FHC0001 U91629.1(MYBPC3):g.5256G>A FHCDB substitution exon 1 FHC0002 U91629.1(MYBPC3):g.5254A>C FHCDB substitution exon 1 FHC0003 U91629.1(MYBPC3):g.5824G>T FHCDB substitution intron 1 FHC0004 U91629.1(MYBPC3):g.5166G>A FHCDB substitution exon 1 FHC0005 U91629.1(MYBPC3):g.5824G>A FHCDB substitution intron 1 FHC0006 U91629.1(MYBPC3):g.5828G>A FHCDB substitution intron 1 FHC0007 U91629.1(MYBPC3):g.6011G>A FHCDB substitution exon 1 FHC0008 U91629.1(MYBPC3):g.6014G>C FHCDB substitution exon 1 FHC0010 U91629.1(MYBPC3):g.7308A>G FHCDB substitution intron 1 FHC0012 U91629.1(MYBPC3):g.7360G>A FHCDB substitution exon 1 FHC0015 U91629.1(MYBPC3):g.7438T>C FHCDB substitution exon 1 FHC0016 U91629.1(MYBPC3):g.10385A>G FHCDB substitution intron 1 FHC0017 U91629.1(MYBPC3):g.10512_10513del FHCDB deletion exon 1 FHC0018 U91629.1(MYBPC3):g.10587delT FHCDB deletion exon 1 FHC0019 U91629.1(MYBPC3):g.10618delC FHCDB deletion exon 1 FHC0020 U91629.1(MYBPC3):g.10628G>C FHCDB substitution exon 1 FHC0022 U91629.1(MYBPC3):g.10732C>T FHCDB substitution exon 1 FHC0025 U91629.1(MYBPC3):g.10931G>A FHCDB substitution exon 1 FHC0026 U91629.1(MYBPC3):g.10951C>T FHCDB substitution exon 1 FHC0027 U91629.1(MYBPC3):g.10952G>A FHCDB substitution exon 1 FHC0028 U91629.1(MYBPC3):g.10957_10959del FHCDB deletion exon 1 FHC0029 U91629.1(MYBPC3):g.11071G>C FHCDB substitution exon 1 FHC0030 U91629.1(MYBPC3):g.11047_11048del FHCDB deletion exon 1 FHC0032 U91629.1(MYBPC3):g.11073T>C FHCDB substitution intron 1 FHC0035 U91629.1(MYBPC3):g.11645delT FHCDB deletion exon 1 FHC0038 U91629.1(MYBPC3):g.12413delA FHCDB deletion exon 1 FHC0040 U91629.1(MYBPC3):g.13858A>G FHCDB substitution intron 1 FHC0045 U91629.1(MYBPC3):g.13893G>A FHCDB substitution exon 1 FHC0048 U91629.1(MYBPC3):g.13980G>A FHCDB substitution exon 1 FHC0050 U91629.1(MYBPC3):g.14271delC FHCDB deletion exon 1 FHC0053 U91629.1(MYBPC3):g.15042_15063dup FHCDB duplication exon 1 FHC0055 U91629.1(MYBPC3):g.15087C>A FHCDB substitution exon 1 FHC0060 U91629.1(MYBPC3):g.15829A>G FHCDB substitution intron 1 FHC0061 U91629.1(MYBPC3):g.15131G>T FHCDB substitution intron 1 FHC0062 U91629.1(MYBPC3):g.15131G>A FHCDB substitution intron 1 FHC0063 U91629.1(MYBPC3):g.15088delC FHCDB deletion exon 1 FHC0065 U91629.1(MYBPC3):g.15919dupG FHCDB duplication exon 1 FHC0066 U91629.1(MYBPC3):g.16085G>A FHCDB substitution exon 1 FHC0067 U91629.1(MYBPC3):g.16088A>G FHCDB substitution exon 1 FHC0068 U91629.1(MYBPC3):g.16154C>T FHCDB substitution exon 1 FHC0069 U91629.1(MYBPC3):g.16189_16193del FHCDB deletion exon 1 FHC0070 U91629.1(MYBPC3):g.16190_16194del FHCDB deletion exon 1 FHC0071 U91629.1(MYBPC3):g.16234_16247dup FHCDB duplication exon 1 FHC0072 U91629.1(MYBPC3):g.16212delC FHCDB deletion exon 1 FHC0073 U91629.1(MYBPC3):g.17721G>A FHCDB substitution exon 1 FHC0074 U91629.1(MYBPC3):g.17773_17774delGT FHCDB deletion intron 1 FHC0075 U91629.1(MYBPC3):g.17721G>A FHCDB substitution exon 1 FHC0076 U91629.1(MYBPC3):g.18566_18567del FHCDB deletion exon 1 FHC0077 U91629.1(MYBPC3):g.18607C>T FHCDB substitution exon 1 FHC0078 U91629.1(MYBPC3):g.18608G>A FHCDB substitution intron 1 FHC0079 U91629.1(MYBPC3):g.18535_18536del FHCDB deletion exon 1 FHC0080 U91629.1(MYBPC3):g.20025_20026ins FHCDB insertion exon 1 FHC0081 U91629.1(MYBPC3):g.19935C>T FHCDB substitution exon 1 FHC0082 U91629.1(MYBPC3):g.20082C>T FHCDB substitution exon 1 FHC0083 U91629.1(MYBPC3):g.20096G>A FHCDB substitution intron 1 FHC0084 U91629.1(MYBPC3):g.20410G>T FHCDB substitution exon 1 FHC0085 U91629.1(MYBPC3):g.20459G>C FHCDB substitution intron 1 FHC0086 U91629.1(MYBPC3):g.20456T>G FHCDB substitution intron 1 FHC0090 U91629.1(MYBPC3):g.20835G>A FHCDB substitution intron 1 FHC0091 U91629.1(MYBPC3):g.21034G>A FHCDB substitution exon 1 FHC0092 U91629.1(MYBPC3):g.21059delG FHCDB deletion exon 1 FHC0093 U91629.1(MYBPC3):g.21524G>A FHCDB substitution exon 1 FHC0094 U91629.1(MYBPC3):g.21082G>A FHCDB substitution intron 1 FHC0095 U91629.1(MYBPC3):g.[21420_21421ins21404_21415; 21420_21423del] FHCDB complex exon 1 FHC0096 U91629.1(MYBPC3):g.21458C>T FHCDB substitution exon 1 FHC0097 U91629.1(MYBPC3):g.21520_21521ins21503_21520 FHCDB insertion exon 1 FHC0098 X52889.1(MYH7):g.4421_4423del FHCDB deletion exon 1 FHC0099 X52889.1(MYH7):g.4470C>T FHCDB substitution exon 1 FHC0101 X52889.1(MYH7):g.4568G>A FHCDB substitution exon 1 FHC0102 X52889.1(MYH7):g.5353C>T FHCDB substitution exon 1 FHC0103 X52889.1(MYH7):g.5410G>A FHCDB substitution exon 1 FHC0104 X52889.1(MYH7):g.5467A>G FHCDB substitution exon 1 FHC0105 X52889.1(MYH7):g.6283G>C FHCDB substitution exon 1 FHC0106 X52889.1(MYH7):g.6275C>G FHCDB substitution exon 1 FHC0107 X52889.1(MYH7):g.6277C>A FHCDB substitution exon 1 FHC0108 X52889.1(MYH7):g.6491A>G FHCDB substitution exon 1 FHC0109 X52889.1(MYH7):g.6460C>A FHCDB substitution exon 1 FHC0111 X52889.1(MYH7):g.6643G>A FHCDB substitution exon 1 FHC0112 X52889.1(MYH7):g.6664G>A FHCDB substitution exon 1 FHC0113 X52889.1(MYH7):g.6633A>C FHCDB substitution exon 1 FHC0114 X52889.1(MYH7):g.6685T>C FHCDB substitution exon 1 FHC0115 X52889.1(MYH7):g.7543G>C FHCDB substitution exon 1 FHC0116 X52889.1(MYH7):g.[8808C>G;8810G>T] FHCDB substitution exon 1 FHC0117 X52889.1(MYH7):g.8848G>A FHCDB substitution exon 1 FHC0118 X52889.1(MYH7):g.8847C>T FHCDB substitution exon 1 FHC0119 X52889.1(MYH7):g.8848G>T FHCDB substitution exon 1 FHC0120 X52889.1(MYH7):g.8789G>T FHCDB substitution exon 1 FHC0121 X52889.1(MYH7):g.9123C>T FHCDB substitution exon 1 FHC0123 X52889.1(MYH7):g.9585T>G FHCDB substitution exon 1 FHC0124 X52889.1(MYH7):g.10391G>C FHCDB substitution exon 1 FHC0125 X52889.1(MYH7):g.10401A>T FHCDB substitution exon 1 FHC0126 X52889.1(MYH7):g.10446A>G FHCDB substitution exon 1 FHC0127 X52889.1(MYH7):g.10442C>G FHCDB substitution exon 1 FHC0130 X52889.1(MYH7):p.V606L FHCDB substitution exon 1 FHC0131 X52889.1(MYH7):g.9542G>A FHCDB substitution exon 1 FHC0132 X52889.1(MYH7):g.10457G>A FHCDB substitution exon 1 FHC0134 X52889.1(MYH7):g.10486G>C FHCDB substitution exon 1 FHC0135 X52889.1(MYH7):g.11271G>A FHCDB substitution exon 1 FHC0136 X52889.1(MYH7):g.11281C>T FHCDB substitution exon 1 FHC0137 X52889.1(MYH7):g.11282G>A FHCDB substitution exon 1 FHC0138 X52889.1(MYH7):g.11281C>A FHCDB substitution exon 1 FHC0139 X52889.1(MYH7):g.11306G>T FHCDB substitution exon 1 FHC0140 X52889.1(MYH7):g.12072C>T FHCDB substitution exon 1 FHC0141 X52889.1(MYH7):g.12079A>G FHCDB substitution exon 1 FHC0143 X52889.1(MYH7):g.12127G>T FHCDB substitution exon 1 FHC0144 X52889.1(MYH7):g.12138G>A FHCDB substitution exon 1 FHC0146 X52889.1(MYH7):g.12147C>T FHCDB substitution exon 1 FHC0147 X52889.1(MYH7):g.12148G>A FHCDB substitution exon 1 FHC0150 X52889.1(MYH7):g.12307C>T FHCDB substitution exon 1 FHC0151 X52889.1(MYH7):g.12307C>G FHCDB substitution exon 1 FHC0153 X52889.1(MYH7):g.12332C>T FHCDB substitution exon 1 FHC0154 X52889.1(MYH7):g.12338G>A FHCDB substitution exon 1 FHC0155 X52889.1(MYH7):g.12348T>G FHCDB substitution exon 1 FHC0156 X52889.1(MYH7):g.12340C>G FHCDB substitution exon 1 FHC0157 X52889.1(MYH7):g.12361G>C FHCDB substitution exon 1 FHC0158 X52889.1(MYH7):g.12361G>T FHCDB substitution exon 1 FHC0159 X52889.1(MYH7):g.12361G>A FHCDB substitution exon 1 FHC0160 X52889.1(MYH7):g.12362G>C FHCDB substitution exon 1 FHC0161 X52889.1(MYH7):g.12707G>A FHCDB substitution exon 1 FHC0163 X52889.1(MYH7):g.19227G>A FHCDB substitution exon 1 FHC0164 X52889.1(MYH7):g.22240A>G FHCDB substitution exon 1 FHC0165 X52889.1(MYH7):g.13198G>A FHCDB substitution exon 1 FHC0167 X52889.1(MYH7):g.12738A>G FHCDB substitution exon 1 FHC0168 X52889.1(MYH7):g.12739C>G FHCDB substitution exon 1 FHC0169 X52889.1(MYH7):g.12750G>A FHCDB substitution exon 1 FHC0170 X52889.1(MYH7):g.12765G>A FHCDB substitution exon 1 FHC0171 X52889.1(MYH7):g.12794G>A FHCDB substitution exon 1 FHC0173 X52889.1(MYH7):g.13198G>C FHCDB substitution exon 1 FHC0174 X52889.1(MYH7):g.13267C>T FHCDB substitution exon 1 FHC0175 X52889.1(MYH7):g.13271G>A FHCDB substitution exon 1 FHC0176 X52889.1(MYH7):g.13270C>T FHCDB substitution exon 1 FHC0177 X52889.1(MYH7):g.13217T>C FHCDB substitution exon 1 FHC0178 X52889.1(MYH7):g.13267C>G FHCDB substitution exon 1 FHC0179 X52889.1(MYH7):g.13292T>A FHCDB substitution exon 1 FHC0180 X52889.1(MYH7):g.13309_13311del FHCDB deletion exon 1 FHC0181 X52889.1(MYH7):g.13968A>G FHCDB substitution exon 1 FHC0182 X52889.1(MYH7):g.14009C>G FHCDB substitution exon 1 FHC0183 X52889.1(MYH7):g.14057G>A FHCDB substitution exon 1 FHC0184 X52889.1(MYH7):g.14066G>A FHCDB substitution exon 1 FHC0185 X52889.1(MYH7):g.14075_14077del FHCDB deletion exon 1 FHC0186 X52889.1(MYH7):g.14075G>A FHCDB substitution exon 1 FHC0188 X52889.1(MYH7):g.14090G>A FHCDB substitution exon 1 FHC0190 X52889.1(MYH7):g.14132G>A FHCDB substitution exon 1 FHC0191 X52889.1(MYH7):g.14169T>G FHCDB substitution exon 1 FHC0192 X52889.1(MYH7):g.23793_26171del FHCDB deletion intron 1 FHC0194 X52889.1(MYH7):g.8856G>A FHCDB substitution exon 1 FHC0196 X52889.1(MYH7):g.9124G>A FHCDB substitution exon 1 FHC0197 X52889.1(MYH7):g.9124G>T FHCDB substitution exon 1 FHC0198 X52889.1(MYH7):g.9049C>T FHCDB substitution exon 1 FHC0199 X52889.1(MYH7):g.9094T>C FHCDB substitution exon 1 FHC0201 X66141.1(MYL2):c.67G>A FHCDB substitution exon 1 FHC0202 X66141.1(MYL2):c.82T>C FHCDB substitution exon 1 FHC0203 X66141.1(MYL2):c.94G>A FHCDB substitution exon 1 FHC0206 X66141.1(MYL2):c.171C>A FHCDB substitution exon 1 FHC0211 X66141.1(MYL2):c.203G>A FHCDB substitution exon 1 FHC0214 X66141.1(MYL2):c.314C>G FHCDB substitution exon 1 FHC0230 X66141.1(MYL2):c.527A>T FHCDB substitution exon 1 FHC0320 M24122.1(MYL3):c.217A>G FHCDB substitution exon 1 FHC0330 M24122.1(MYL3):c.495A>G FHCDB substitution exon 1 FHC0335 M24122.1(MYL3):c.511G>A FHCDB substitution exon 1 FHC0392 X90780.1(TNNI3):g.4745G>A FHCDB substitution exon 1 FHC0393 X90780.1(TNNI3):g.4757C>T FHCDB substitution exon 1 FHC0394 X90780.1(TNNI3):g.4792A>G FHCDB substitution exon 1 FHC0395 X90780.1(TNNI3):g.4807A>G FHCDB substitution exon 1 FHC0400 X90780.1(TNNI3):g.2530G>T FHCDB substitution exon 1 FHC0402 X90780.1(TNNI3):g.2600C>T FHCDB substitution exon 1 FHC0404 X90780.1(TNNI3):g.4683G>A FHCDB substitution exon 1 FHC0405 X90780.1(TNNI3):g.4693C>T FHCDB substitution exon 1 FHC0406 X90780.1(TNNI3):g.4730C>T FHCDB substitution exon 1 FHC0407 X90780.1(TNNI3):g.4693C>G FHCDB substitution exon 1 FHC0408 X90780.1(TNNI3):g.4694G>A FHCDB substitution exon 1 FHC0409 X90780.1(TNNI3):g.4744C>T FHCDB substitution exon 1 FHC0410 X90780.1(TNNI3):g.4807_4809del FHCDB deletion exon 1 FHC0411 X90780.1(TNNI3):g.4745G>C FHCDB substitution exon 1 FHC0412 X90780.1(TNNI3):g.4789_4791del FHCDB deletion exon 1 FHC0413 X90780.1(TNNI3):g.6449G>A FHCDB substitution exon 1 FHC0414 X90780.1(TNNI3):g.6461A>G FHCDB substitution exon 1 FHC0415 X90780.1(TNNI3):g.6467G>A FHCDB substitution exon 1 FHC0416 X90780.1(TNNI3):g.6498G>A FHCDB substitution exon 1 FHC0418 X90780.1(TNNI3):p.S199N FHCDB substitution exon 1 FHC0421 X90780.1(TNNI3):g.6499G>C FHCDB substitution exon 1 FHC0422 X90780.1(TNNI3):g.6499G>A FHCDB substitution exon 1 FHC0423 X90780.1(TNNI3):g.6508A>C FHCDB substitution exon 1 FHC0546 AF004414.1(TNNT2):g.200T>C FHCDB substitution exon 1 FHC0547 AF004414.1(TNNT2):g.239G>A FHCDB substitution exon 1 FHC0548 AF004414.1(TNNT2):g.249A>C FHCDB substitution exon 1 FHC0549 AF004414.1(TNNT2):g.228T>A FHCDB substitution exon 1 FHC0550 AF004414.1(TNNT2):g.119C>T FHCDB substitution exon 1 FHC0554 AF004414.1(TNNT2):g.125C>T FHCDB substitution exon 1 FHC0555 AF004414.1(TNNT2):g.156C>T FHCDB substitution exon 1 FHC0565 AF004414.1(TNNT2):g.161_163del FHCDB deletion exon 1 FHC0567 AF004414.1(TNNT2):g.170_172del FHCDB deletion exon 1 FHC0571 AF004414.1(TNNT2):g.113A>G FHCDB substitution exon 1 FHC0573 AF004414.1(TNNT2):g.192A>T FHCDB substitution exon 1 FHC0581 AF004414.1(TNNT2):g.81G>C FHCDB substitution exon 1 FHC0609 M19713.1(TPM1):c.240G>C FHCDB substitution exon 1 FHC0610 M19713.1(TPM1):c.244C>T FHCDB substitution exon 1 FHC0611 M19713.1(TPM1):c.265A>C FHCDB substitution exon 1 FHC0616 M19713.1(TPM1):c.340T>C FHCDB substitution exon 1 FHC0621 M19713.1(TPM1):c.571T>C FHCDB substitution exon 1 FHC0622 M19713.1(TPM1):c.579G>A FHCDB substitution exon 1 FHC0623 M19713.1(TPM1):c.595A>G FHCDB substitution exon 1 FHC0624 M19713.1(TPM1):c.595A>T FHCDB substitution exon 1 FHC0625 M19713.1(TPM1):c.610T>G FHCDB substitution exon 1 FHC0670 M19713.1(TPM1):c.898T>C FHCDB substitution exon 1 FHC0690 J00071.1(ACTC):g.281G>A FHCDB substitution exon 1 FHC0695 J00071.1(ACTC):g.1146C>G FHCDB substitution exon 1 FHC0800 X90568.1(TTN):c.2221G>T FHCDB substitution exon 1 FHC0904 U91629.1(MYBPC3):g.2376_2382del FHCDB deletion exon 1 FHC0905 U91629.1(MYBPC3):g.2377C>T FHCDB substitution exon 1 FHC0955 U91629.1(MYBPC3):g.16115G>A FHCDB substitution exon 1 FHC0960 U91629.1(MYBPC3):g.17653C>A FHCDB substitution exon 1 FHC0970 U91629.1(MYBPC3):g.18509C>T FHCDB substitution exon 1 FHC1010 X52889.1(MYH7):g.4508G>A FHCDB substitution exon 1 FHC1019 X52889.1(MYH7):g.6300G>A FHCDB substitution exon 1 FHC1020 X52889.1(MYH7):g.6325G>A FHCDB substitution exon 1 FHC1021 X52889.1(MYH7):g.6346C>T FHCDB substitution exon 1 FHC1024 X52889.1(MYH7):g.6475C>G FHCDB substitution exon 1 FHC1025 X52889.1(MYH7):g.7525G>A FHCDB substitution exon 1 FHC1026 X52889.1(MYH7):g.7550A>G FHCDB substitution exon 1 FHC1028 X52889.1(MYH7):g.8266A>G FHCDB substitution exon 1 FHC1030 X52889.1(MYH7):g.8278G>A FHCDB substitution exon 1 FHC1032 X52889.1(MYH7):g.8850G>T FHCDB substitution exon 1 FHC1034 X52889.1(MYH7):g.8871G>A FHCDB substitution exon 1 FHC1036 X52889.1(MYH7):g.9070T>C FHCDB substitution exon 1 FHC1040 X52889.1(MYH7):g.9483A>G FHCDB substitution exon 1 FHC1042 X52889.1(MYH7):g.9494G>A FHCDB substitution exon 1 FHC1044 X52889.1(MYH7):g.9596C>A FHCDB substitution exon 1 FHC1050 X52889.1(MYH7):g.13126A>G FHCDB substitution exon 1 FHC1055 X52889.1(MYH7):g.12726A>T FHCDB substitution exon 1 FHC1056 X52889.1(MYH7):g.12740G>T FHCDB substitution exon 1 FHC1060 X52889.1(MYH7):g.17905T>G FHCDB substitution exon 1 FHC1062 X52889.1(MYH7):g.18153G>C FHCDB substitution exon 1 FHC1070 X52889.1(MYH7):g.19222C>T FHCDB substitution exon 1 FHC1072 X52889.1(MYH7):g.19227G>A FHCDB substitution exon 1 FHC1073 X52889.1(MYH7):g.19236C>T FHCDB substitution exon 1 FHC1080 X52889.1(MYH7):g.21752G>A FHCDB substitution exon 1 FHC1090 X52889.1(MYH7):g.22243G>A FHCDB substitution exon 1 BGMUT_10 AF134412.1(ABO):c.155+1170C>T BGMUT substitution intron 1 BGMUT_100 AF134412.1(ABO):c.[467C>T; 592C>T; 1061delC; 155+1170C>T] BGMUT complex not within known transcription unit 1 BGMUT_101 AF134412.1(ABO):c.[220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 98+127_98+128insA; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+1095delC; 155+1096delA; 203+375C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC;..] BGMUT complex not within known transcription unit 1 BGMUT_103 AF134412.1(ABO):c.804_805insG BGMUT insertion exon 1 BGMUT_104 AF134412.1(ABO):c.[467C>T; 646T>A; 681G>A] BGMUT substitution exon 1 BGMUT_105 AF134412.1(ABO):c.804delG BGMUT deletion exon 1 BGMUT_106 AF134412.1(ABO):c.373+5G>A BGMUT substitution intron 1 BGMUT_107 AF134412.1(ABO):c.[467C>T; 767T>C] BGMUT substitution exon 1 BGMUT_108 AF134412.1(ABO):c.[467C>T; 761C>T] BGMUT substitution exon 1 BGMUT_109 AF134412.1(ABO):c.664G>A BGMUT substitution exon 1 BGMUT_11 AF134412.1(ABO):c.1054C>T BGMUT substitution exon 1 BGMUT_110 AF134412.1(ABO):c.[467C>T; 803G>C] BGMUT substitution exon 1 BGMUT_111 AF134412.1(ABO):c.[526C>G; 657C>T; 703G>A; 803G>C] BGMUT substitution exon 1 BGMUT_112 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 700C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_113 AF134412.1(ABO):c.[467C>T; 796C>A] BGMUT substitution exon 1 BGMUT_114 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1054C>T] BGMUT substitution exon 1 BGMUT_115 AF134412.1(ABO):c.[297A>G; 526C>G; 646T>A; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_117 AF134412.1(ABO):c.[247G>T; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_118 AF134412.1(ABO):c.[297A>G; 526C>G; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_119 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 700C>G; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_12 AF134412.1(ABO):c.1054C>G BGMUT substitution exon 1 VAR_000005 P14060:p.Thr367Asn SP substitution exon 1 VAR_000006 P26439:p.Glu142Lys SP substitution exon 1 BGMUT_120 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 796C>A; 803G>C; 930G>A; 155+858C>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_121 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 871G>A; 930G>A] BGMUT substitution exon 1 BGMUT_122 AF134412.1(ABO):c.[297A>G; 526C>G; 641T>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_123 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 669G>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_124 AF134412.1(ABO):c.[297A>G; 502C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_125 AF134412.1(ABO):c.[467C>T; 646T>A; 681G>A; 771C>T; 796C>A; 803G>C; 829G>A] BGMUT substitution exon 1 BGMUT_126 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 873C>G; 930G>A] BGMUT substitution exon 1 BGMUT_127 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 721C>T; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_128 AF134412.1(ABO):c.[297A>G; 526C>G; 548A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_129 AF134412.1(ABO):c.[297A>G; 526C>G; 539G>A; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_13 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_130 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1036A>G] BGMUT substitution exon 1 BGMUT_131 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1055G>A; 239+530A>G; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_132 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 803G>C; 863T>G; 930G>A] BGMUT substitution exon 1 BGMUT_133 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1037A>T; 239+530A>G; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_134 AF134412.1(ABO):c.[297A>G; 526C>G; 556A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_136 K02403.1:g.[3258A>G; 3567A>G; 3660T>C; 3669T>G; 3670C>G] BGMUT substitution exon 1 BGMUT_137 K02403.1:g.3567A>G BGMUT substitution exon 1 BGMUT_139 NM_000592.4:g.3578G>A BGMUT substitution exon 1 BGMUT_14 AF134412.1(ABO):c.[467C>T; 1009A>G] BGMUT substitution exon 1 BGMUT_140 NM_000592.4:g.3269G>A BGMUT substitution exon 1 BGMUT_141 NM_000592.4:g.[3269G>A; 3671C>T; 3680G>T; 3681G>C] BGMUT substitution exon 1 BGMUT_143 M77829.1(AQP1):c.134C>T BGMUT substitution exon 1 BGMUT_144 M77829.1(AQP1):c.1_384del BGMUT deletion not within known transcription unit 0 BGMUT_145 M77829.1(AQP1):c.307_308insT BGMUT insertion exon 1 BGMUT_146 M77829.1(AQP1):c.113C>T BGMUT substitution exon 1 BGMUT_147 M77829.1(AQP1):c.576C>A BGMUT substitution exon 1 BGMUT_148 M77829.1(AQP1):c.232delG BGMUT deletion exon 1 BGMUT_149 M77829.1(AQP1):c.140A>G BGMUT substitution exon 1 BGMUT_15 AF134412.1(ABO):c.1061delC BGMUT deletion exon 1 BGMUT_151 M31516.1(DAF):c.679G>C BGMUT substitution exon 1 BGMUT_152 M31516.1(DAF):c.155G>T BGMUT substitution exon 1 BGMUT_153 M31516.1(DAF):c.155G>C BGMUT substitution exon 1 BGMUT_155 M31516.1(DAF):c.239T>A BGMUT substitution exon 1 BGMUT_156 M31516.1(DAF):c.261G>A BGMUT substitution exon 1 BGMUT_157 M31516.1(DAF):c.263C>A BGMUT substitution exon 1 BGMUT_158 M31516.1(DAF):c.245T>G BGMUT substitution exon 1 BGMUT_159 M31516.1(DAF):c.749C>T BGMUT substitution exon 1 BGMUT_16 AF134412.1(ABO):c.539G>C BGMUT substitution exon 1 BGMUT_160 M31516.1(DAF):c.719G>A BGMUT substitution exon 1 BGMUT_161 M31516.1(DAF):c.647C>T BGMUT substitution exon 1 BGMUT_162 M31516.1(DAF):c.726T>G BGMUT substitution exon 1 BGMUT_164 AF290204.1(DO):c.[378C>T; 624T>C; 793A>G] BGMUT substitution exon 1 BGMUT_165 AF290204.1(DO):c.[323G>T; 378C>T] BGMUT substitution exon 1 BGMUT_166 AF290204.1(DO):c.[350C>T; 378C>T] BGMUT substitution exon 1 BGMUT_167 AF290204.1(DO):c.145-2A>G BGMUT substitution intron 1 BGMUT_168 AF290204.1(DO):c.144+2T>C BGMUT substitution intron 1 BGMUT_169 AF290204.1(DO):c.442C>T BGMUT substitution exon 1 BGMUT_17 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_170 AF290204.1(DO):c.343_350del BGMUT deletion exon 1 BGMUT_171 AF290204.1(DO):c.[323G>T; 624T>C; 793A>G; 898C>G] BGMUT substitution exon 1 BGMUT_172 AF290204.1(DO):c.[323G>T; 624T>C; 793A>G] BGMUT substitution exon 1 BGMUT_174 M27819.1(SLC4A1):c.2561C>T BGMUT substitution exon 1 BGMUT_175 M27819.1(SLC4A1):c.166A>G BGMUT substitution exon 1 BGMUT_176 M27819.1(SLC4A1):c.[166A>G; 2561C>T] BGMUT substitution exon 1 BGMUT_177 M27819.1(SLC4A1):c.[166A>G; 980C>G] BGMUT substitution exon 1 BGMUT_178 M27819.1(SLC4A1):c.118G>A BGMUT substitution exon 1 BGMUT_179 M27819.1(SLC4A1):c.165delC BGMUT deletion exon 1 BGMUT_18 AF134412.1(ABO):c.[239+530A>G; 373+42G>T; 373+44G>A; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution intron 1 BGMUT_180 M27819.1(SLC4A1):c.168delG BGMUT deletion exon 1 BGMUT_181 M27819.1(SLC4A1):c.243G>A BGMUT substitution exon 1 BGMUT_182 M27819.1(SLC4A1):c.268G>A BGMUT substitution exon 1 BGMUT_183 M27819.1(SLC4A1):c.300_301insT BGMUT insertion exon 1 BGMUT_184 M27819.1(SLC4A1):c.343delAC BGMUT deletion exon 1 BGMUT_185 M27819.1(SLC4A1):c.485+3C>A BGMUT substitution intron 1 BGMUT_186 M27819.1(SLC4A1):c.388G>A BGMUT substitution exon 1 BGMUT_187 M27819.1(SLC4A1):c.448C>T BGMUT substitution exon 1 BGMUT_188 M27819.1(SLC4A1):c.510_511insC BGMUT insertion exon 1 BGMUT_189 M27819.1(SLC4A1):c.549_550insA BGMUT insertion exon 1 BGMUT_19 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+42G>T; 373+44G>A; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_190 M27819.1(SLC4A1):c.876+1G>T BGMUT substitution intron 1 BGMUT_191 M27819.1(SLC4A1):c.722delT BGMUT deletion exon 1 BGMUT_192 M27819.1(SLC4A1):c.822_823insC BGMUT insertion exon 1 BGMUT_193 M27819.1(SLC4A1):c.854C>A BGMUT substitution exon 1 BGMUT_194 M27819.1(SLC4A1):c.988C>T BGMUT substitution exon 1 BGMUT_195 M27819.1(SLC4A1):c.1257delC BGMUT deletion exon 1 BGMUT_196 M27819.1(SLC4A1):c.1364G>A BGMUT substitution exon 1 BGMUT_197 M27819.1(SLC4A1):c.1366delG BGMUT deletion exon 1 BGMUT_198 M27819.1(SLC4A1):c.1626+1G>A BGMUT substitution intron 1 BGMUT_199 M27819.1(SLC4A1):c.1462G>A BGMUT substitution exon 1 BGMUT_20 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C] BGMUT substitution exon 1 BGMUT_200 M27819.1(SLC4A1):c.1468C>T BGMUT substitution exon 1 BGMUT_201 M27819.1(SLC4A1):c.1474delT BGMUT deletion exon 1 BGMUT_202 M27819.1(SLC4A1):c.1494dup69 BGMUT duplication exon 1 BGMUT_203 M27819.1(SLC4A1):c.1552C>T BGMUT substitution exon 1 BGMUT_204 M27819.1(SLC4A1):c.1848_1849insC BGMUT insertion exon 1 BGMUT_205 M27819.1(SLC4A1):c.1884C>A BGMUT substitution exon 1 BGMUT_206 M27819.1(SLC4A1):c.1938delG BGMUT deletion exon 1 BGMUT_207 M27819.1(SLC4A1):c.1987del BGMUT deletion exon 1 BGMUT_208 M27819.1(SLC4A1):c.2119C>T BGMUT substitution exon 1 BGMUT_209 M27819.1(SLC4A1):c.2140G>A BGMUT substitution exon 1 BGMUT_21 AF134412.1(ABO):c.[297A>G; 526C>G; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_210 M27819.1(SLC4A1):c.2279G>A BGMUT substitution exon 1 BGMUT_211 M27819.1(SLC4A1):c.2278C>T BGMUT substitution exon 1 BGMUT_212 M27819.1(SLC4A1):c.2312G>A BGMUT substitution exon 1 BGMUT_213 M27819.1(SLC4A1):c.2348T>A BGMUT substitution exon 1 BGMUT_214 M27819.1(SLC4A1):c.2422C>T BGMUT substitution exon 1 BGMUT_215 M27819.1(SLC4A1):c.2423G>A BGMUT substitution exon 1 BGMUT_216 M27819.1(SLC4A1):c.2455_2464insCACCCaGATC BGMUT insertion exon 1 BGMUT_217 M27819.1(SLC4A1):c.2501A>C BGMUT substitution exon 1 BGMUT_218 M27819.1(SLC4A1):c.2510C>T BGMUT substitution exon 1 BGMUT_219 M27819.1(SLC4A1):c.2509A>G BGMUT substitution exon 1 BGMUT_22 AF134412.1(ABO):c.[526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_220 M27819.1(SLC4A1):c.2603C>T BGMUT substitution exon 1 BGMUT_221 M27819.1(SLC4A1):c.2608C>T BGMUT substitution exon 1 BGMUT_222 M27819.1(SLC4A1):c.2952delC BGMUT deletion exon 1 BGMUT_223 M27819.1(SLC4A1):c.[166A>G; 1200_1224del] BGMUT complex exon 1 BGMUT_224 M27819.1(SLC4A1):c.1766G>A BGMUT substitution exon 1 BGMUT_225 M27819.1(SLC4A1):c.1765C>T BGMUT substitution exon 1 BGMUT_226 M27819.1(SLC4A1):c.1765C>A BGMUT substitution exon 1 BGMUT_227 M27819.1(SLC4A1):c.2703_2733del BGMUT deletion exon 1 BGMUT_228 M27819.1(SLC4A1):c.1838C>T BGMUT substitution exon 1 BGMUT_229 M27819.1(SLC4A1):c.[92T>C; 166A>G; 2102G>A] BGMUT substitution exon 1 BGMUT_23 AF134412.1(ABO):c.261delG #insertion in reference# BGMUT deletion exon 1 BGMUT_230 M27819.1(SLC4A1):c.2573C>A BGMUT substitution exon 1 BGMUT_231 M27819.1(SLC4A1):c.2550delG BGMUT deletion exon 1 BGMUT_232 M27819.1(SLC4A1):c.2102G>A BGMUT substitution exon 1 BGMUT_233 M27819.1(SLC4A1):c.1972G>A BGMUT substitution exon 1 BGMUT_234 M27819.1(SLC4A1):c.1669G>A BGMUT substitution exon 1 BGMUT_235 M27819.1(SLC4A1):c.1643C>T BGMUT substitution exon 1 BGMUT_236 M27819.1(SLC4A1):c.1654A>C BGMUT substitution exon 1 BGMUT_237 M27819.1(SLC4A1):c.1294C>T BGMUT substitution exon 1 BGMUT_238 M27819.1(SLC4A1):c.1694G>C BGMUT substitution exon 1 BGMUT_239 M27819.1(SLC4A1):c.1707C>A BGMUT substitution exon 1 BGMUT_24 AF134412.1(ABO):c.[98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+575C>T; 203+1678T>C; 239+336G>A; 373+784G>A] BGMUT substitution intron 1 BGMUT_240 M27819.1(SLC4A1):c.1967G>A BGMUT substitution exon 1 BGMUT_241 M27819.1(SLC4A1):c.1966C>T BGMUT substitution exon 1 BGMUT_242 M27819.1(SLC4A1):c.1663T>C BGMUT substitution exon 1 BGMUT_243 M27819.1(SLC4A1):c.1937G>A BGMUT substitution exon 1 BGMUT_244 M27819.1(SLC4A1):c.1936C>T BGMUT substitution exon 1 BGMUT_245 M27819.1(SLC4A1):c.1681C>T BGMUT substitution exon 1 BGMUT_246 M27819.1(SLC4A1):c.[1287A>T; 1681C>G] BGMUT substitution exon 1 BGMUT_247 M27819.1(SLC4A1):c.1696C>T BGMUT substitution exon 1 BGMUT_248 M27819.1(SLC4A1):c.1696C>G BGMUT substitution exon 1 BGMUT_249 M27819.1(SLC4A1):c.1653G>C BGMUT substitution exon 1 BGMUT_25 AF134412.1(ABO):c.[98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+575C>T; 203+102C>A; 203+1678T>C; 239+336G>A; 373+784G>A] BGMUT substitution intron 1 BGMUT_250 M27819.1(SLC4A1):c.1438G>A BGMUT substitution exon 1 BGMUT_251 U01839.1(DARC):c.125A>G BGMUT substitution exon 1 BGMUT_253 U01839.1(DARC):c.-33T>C BGMUT substitution exon 1 BGMUT_254 U01839.1(DARC):c.298G>A BGMUT substitution exon 1 BGMUT_255 U01839.1(DARC):c.[265C>T; 298G>A] BGMUT substitution exon 1 BGMUT_256 U01839.1(DARC):c.[145G>T; 265C>T; 298G>A] BGMUT substitution exon 1 BGMUT_257 U01839.1(DARC):c.281_295del BGMUT deletion exon 1 BGMUT_258 U01839.1(DARC):c.293G>A BGMUT substitution exon 1 BGMUT_259 U01839.1(DARC):c.413G>A BGMUT substitution exon 1 BGMUT_26 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_260 U01839.1(DARC):c.413G>A BGMUT substitution exon 1 BGMUT_261 U01839.1(DARC):c.414G>A BGMUT substitution exon 1 BGMUT_263 M36284.1(GYPC):c.50_106del BGMUT deletion not within known transcription unit 0 BGMUT_264 M36284.1(GYPC):c.107_190del BGMUT deletion not within known transcription unit 0 BGMUT_266 M36284.1(GYPC):c.[131G>T; 134delC] BGMUT complex exon 1 BGMUT_267 M36284.1(GYPC):c.23A>G BGMUT substitution exon 1 BGMUT_269 M36284.1(GYPC):c.67G>T BGMUT substitution exon 1 BGMUT_27 AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 155+1357C>T; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G;..] BGMUT complex intron 1 BGMUT_270 M36284.1(GYPC):c.40C>T BGMUT substitution exon 1 BGMUT_272 AB001325.1(AQP3):c.710+1G>A BGMUT substitution intron 1 BGMUT_274 M35531.1(FUT1):c.349C>T BGMUT substitution exon 1 BGMUT_275 M35531.1(FUT1):c.442G>T BGMUT substitution exon 1 BGMUT_276 M35531.1(FUT1):c.[460T>C; 1042G>A] BGMUT substitution exon 1 BGMUT_277 M35531.1(FUT1):c.460T>C BGMUT substitution exon 1 BGMUT_278 M35531.1(FUT1):c.461A>G BGMUT substitution exon 1 BGMUT_279 M35531.1(FUT1):c.462C>A BGMUT substitution exon 1 BGMUT_28 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 526C>G; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_280 M35531.1(FUT1):c.491T>A BGMUT substitution exon 1 BGMUT_281 M35531.1(FUT1):c.513G>C BGMUT substitution exon 1 BGMUT_282 M35531.1(FUT1):c.522C>A BGMUT substitution exon 1 BGMUT_283 M35531.1(FUT1):c.547delAG BGMUT deletion exon 1 BGMUT_284 M35531.1(FUT1):c.658C>T BGMUT substitution exon 1 BGMUT_285 M35531.1(FUT1):c.695G>A BGMUT substitution exon 1 BGMUT_286 M35531.1(FUT1):c.721T>C BGMUT substitution exon 1 BGMUT_287 M35531.1(FUT1):c.725T>G BGMUT substitution exon 1 BGMUT_288 M35531.1(FUT1):c.776T>A BGMUT substitution exon 1 BGMUT_289 M35531.1(FUT1):c.[785G>A; 786C>A] BGMUT substitution exon 1 BGMUT_290 M35531.1(FUT1):c.801G>C BGMUT substitution exon 1 BGMUT_291 M35531.1(FUT1):c.801G>T BGMUT substitution exon 1 BGMUT_292 M35531.1(FUT1):c.826C>T BGMUT substitution exon 1 BGMUT_293 M35531.1(FUT1):c.832G>A BGMUT substitution exon 1 BGMUT_294 M35531.1(FUT1):c.880delTT BGMUT deletion exon 1 BGMUT_295 M35531.1(FUT1):c.522C>A BGMUT substitution exon 1 BGMUT_296 M35531.1(FUT1):c.904_906insAAC BGMUT insertion exon 1 BGMUT_297 M35531.1(FUT1):c.944C>T BGMUT substitution exon 1 BGMUT_299 M35531.1(FUT1):c.990delG BGMUT deletion exon 1 BGMUT_30 AF134412.1(ABO):c.[261delG #insertion in reference#; 579T>C] BGMUT complex exon 1 BGMUT_300 M35531.1(FUT1):c.1047G>C BGMUT substitution exon 1 BGMUT_302 U17894.1(FUT2):c.428G>A BGMUT substitution exon 1 BGMUT_303 U17894.1(FUT2):c.715_716del BGMUT deletion exon 1 BGMUT_304 U17894.1(FUT2):c.357C>T BGMUT substitution exon 1 BGMUT_308 U17894.1(FUT2):c.571C>T BGMUT substitution exon 1 BGMUT_309 U17894.1(FUT2):c.628C>T BGMUT substitution exon 1 BGMUT_31 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G] BGMUT complex not within known transcription unit 1 BGMUT_310 U17894.1(FUT2):c.658C>T BGMUT substitution exon 1 BGMUT_311 U17894.1(FUT2):c.685delGT BGMUT deletion exon 1 BGMUT_312 U17894.1(FUT2):c.849G>A BGMUT substitution exon 1 BGMUT_313 U17894.1(FUT2):c.40A>G BGMUT substitution exon 1 BGMUT_314 U17894.1(FUT2):c.481G>A BGMUT substitution exon 1 BGMUT_315 U17894.1(FUT2):c.[40A>G; 481G>A] BGMUT substitution exon 1 BGMUT_316 U17894.1(FUT2):c.357C>T BGMUT substitution exon 1 BGMUT_317 U17894.1(FUT2):c.[357C>T; 480C>T] BGMUT substitution exon 1 BGMUT_318 U17894.1(FUT2):c.[357C>T; 379C>T; 480C>T] BGMUT substitution exon 1 BGMUT_319 U17894.1(FUT2):c.375A>G BGMUT substitution exon 1 BGMUT_32 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_320 U17894.1(FUT2):c.[357C>T; 480C>T; 778delC] BGMUT complex exon 1 BGMUT_321 U17894.1(FUT2):c.385A>T BGMUT substitution exon 1 BGMUT_322 U17894.1(FUT2):c.[357C>T; 385A>T] BGMUT substitution exon 1 BGMUT_323 U17894.1(FUT2):c.400G>A BGMUT substitution exon 1 BGMUT_324 U17894.1(FUT2):c.[171A>G; 216C>T; 428G>A; 739G>A; 960A>G] BGMUT substitution exon 1 BGMUT_325 U17894.1(FUT2):c.[357C>T; 571C>T] BGMUT substitution exon 1 BGMUT_326 U17894.1(FUT2):c.[375A>G; 664C>T] BGMUT substitution exon 1 BGMUT_327 U17894.1(FUT2):c.[400G>A; 760G>A] BGMUT substitution exon 1 BGMUT_328 U17894.1(FUT2):c.[357C>T; 868G>A] BGMUT substitution exon 1 BGMUT_329 U17894.1(FUT2):c.[357C>T; 385A>T] BGMUT substitution exon 1 BGMUT_33 AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T;..] BGMUT complex intron 1 BGMUT_330 U17894.1(FUT2):c.688_690delGTC BGMUT deletion exon 1 BGMUT_332 L31860.1(GYPA):c.[59C>T; 71G>A; 72T>G] BGMUT substitution exon 1 BGMUT_334 J02982.1(GYPB):c.143C>T BGMUT substitution exon 1 BGMUT_337 L31860.1(GYPA):c.232G>A BGMUT substitution exon 1 BGMUT_338 L31860.1(GYPA):c.250G>C BGMUT substitution exon 1 BGMUT_34 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 721C>T; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_35 AF134412.1(ABO):c.[467C>T; 804_805insG; 1061delC] BGMUT complex exon 1 BGMUT_359 J02982.1(GYPB):c.161G>A BGMUT substitution exon 1 BGMUT_36 AF134412.1(ABO):c.[261delG #insertion in reference#; 318C>T; 467C>T] BGMUT complex exon 1 BGMUT_361 L31860.1(GYPA):c.230C>T BGMUT substitution exon 1 BGMUT_362 J02982.1(GYPB):c.65C>G BGMUT substitution exon 1 BGMUT_363 L31860.1(GYPA):c.138T>A BGMUT substitution exon 1 BGMUT_364 L31860.1(GYPA):c.217C>T BGMUT substitution exon 1 BGMUT_365 J02982.1(GYPB):c.173C>G BGMUT substitution exon 1 BGMUT_37 AF134412.1(ABO):c.[261delG #insertion in reference#; 657C>T] BGMUT complex exon 1 BGMUT_373 L31860.1(GYPA):c.197C>A BGMUT substitution exon 1 BGMUT_375 AF458026.1(IGnT C):c.505G>A BGMUT substitution exon 1 BGMUT_376 AF458026.1(IGnT C):c.683G>A BGMUT substitution exon 1 BGMUT_377 AF458026.1(IGnT C):c.816G>C BGMUT substitution exon 1 BGMUT_379 NM_001491.2(IGnT):c.1043G>A BGMUT substitution exon 1 BGMUT_38 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 542G>A; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_380 NM_001491.2(IGnT):c.1148G>A BGMUT substitution exon 1 BGMUT_382 NM_001491.2(IGnT):c.978G>A BGMUT substitution exon 1 BGMUT_383 M59040.1(CD44):c.[137G>C; 207T>C; 255T>C; 326A>C; 716G>A] BGMUT substitution exon 1 BGMUT_387 L36121.1(SLC14A1):c.838G>A BGMUT substitution exon 1 BGMUT_388 L36121.1(SLC14A1):c.342-1G>A BGMUT substitution intron 1 BGMUT_389 L36121.1(SLC14A1):c.663+1G>T BGMUT substitution intron 1 BGMUT_39 AF134412.1(ABO):c.[373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT substitution intron 1 BGMUT_390 L36121.1(SLC14A1):c.871T>C BGMUT substitution exon 1 BGMUT_391 L36121.1(SLC14A1):c.1_341del BGMUT deletion not within known transcription unit 0 BGMUT_392 L36121.1(SLC14A1):c.582C>G BGMUT substitution exon 1 BGMUT_393 L36121.1(SLC14A1):c.1_341del BGMUT deletion not within known transcription unit 0 BGMUT_395 M64934.2(KEL):c.578C>T BGMUT substitution exon 1 BGMUT_396 M64934.2(KEL):c.578C>G BGMUT substitution exon 1 BGMUT_397 M64934.2(KEL):c.577A>T BGMUT substitution exon 1 BGMUT_398 M64934.2(KEL):c.841C>T BGMUT substitution exon 1 BGMUT_399 M64934.2(KEL):c.842G>A BGMUT substitution exon 1 BGMUT_4 AF134412.1(ABO):c.467C>T BGMUT substitution exon 1 BGMUT_40 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 595C>T; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_400 M64934.2(KEL):c.[1790T>C; 1899A>G] BGMUT substitution exon 1 BGMUT_401 M64934.2(KEL):c.1481A>T BGMUT substitution exon 1 BGMUT_402 M64934.2(KEL):c.905T>C BGMUT substitution exon 1 BGMUT_403 M64934.2(KEL):c.1145A>G BGMUT substitution exon 1 BGMUT_404 M64934.2(KEL):c.539G>C BGMUT substitution exon 1 BGMUT_405 M64934.2(KEL):c.1643A>G BGMUT substitution exon 1 BGMUT_406 M64934.2(KEL):c.[388C>T; 389G>A] BGMUT substitution exon 1 BGMUT_407 M64934.2(KEL):c.1475G>A BGMUT substitution exon 1 BGMUT_408 M64934.2(KEL):c.965C>T BGMUT substitution exon 1 BGMUT_409 M64934.2(KEL):c.743G>A BGMUT substitution exon 1 BGMUT_41 AF134412.1(ABO):c.[155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A;..] BGMUT complex intron 1 BGMUT_410 M64934.2(KEL):c.742C>T BGMUT substitution exon 1 BGMUT_411 M64934.2(KEL):c.1217G>A BGMUT substitution exon 1 BGMUT_412 M64934.2(KEL):c.745G>A BGMUT substitution exon 1 BGMUT_413 M64934.2(KEL):c.1268C>T BGMUT substitution exon 1 BGMUT_415 M64934.2(KEL):c.[1088G>A; 2030A>G] BGMUT substitution exon 1 BGMUT_416 M64934.2(KEL):c.[986T>C; 1596G>A] BGMUT substitution exon 1 BGMUT_417 M64934.2(KEL):c.[2107G>A; 1719C>T] BGMUT substitution exon 1 BGMUT_418 M64934.2(KEL):c.223+1G>C BGMUT substitution intron 1 BGMUT_419 M64934.2(KEL):c.382C>T BGMUT substitution exon 1 BGMUT_42 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_420 M64934.2(KEL):c.246T>A BGMUT substitution exon 1 BGMUT_421 M64934.2(KEL):c.1042C>T BGMUT substitution exon 1 BGMUT_422 M64934.2(KEL):c.2027G>A BGMUT substitution exon 1 BGMUT_423 M64934.2(KEL):c.223+1G>A BGMUT substitution intron 1 BGMUT_424 M64934.2(KEL):c.1088G>A BGMUT substitution exon 1 BGMUT_425 M64934.2(KEL):c.[574C>T; 1088G>A] BGMUT substitution exon 1 BGMUT_426 M64934.2(KEL):c.1377G>A BGMUT substitution exon 1 BGMUT_427 M64934.2(KEL):c.526-2A>G BGMUT substitution intron 1 BGMUT_428 M64934.2(KEL):c.1420C>T BGMUT substitution exon 1 BGMUT_429 M64934.2(KEL):c.903delG BGMUT deletion exon 1 BGMUT_43 AF134412.1(ABO):c.[467C>T; 893C>T] BGMUT substitution exon 1 BGMUT_431 Y00816.1(CR1):c.4681G>A BGMUT substitution exon 1 BGMUT_433 Y00816.1(CR1):c.4768A>G BGMUT substitution exon 1 BGMUT_435 Y00816.1(CR1):c.4801A>G BGMUT substitution exon 1 BGMUT_437 Y00816.1(CR1):c.4828T>A BGMUT substitution exon 1 BGMUT_439 Y00816.1(CR1):c.[1333A>G #insertion in reference#; 2051T>C; 3066G>T; 3623A>G; 4843A>G; 5480C>G] BGMUT substitution exon 1 BGMUT_44 AF134412.1(ABO):c.927C>A BGMUT substitution exon 1 BGMUT_444 Y00816.1(CR1):c.180G>A BGMUT substitution exon 1 BGMUT_445 Y00816.1(CR1):c.954T>C BGMUT substitution exon 1 BGMUT_446 Y00816.1(CR1):c.1329A>G BGMUT substitution exon 1 BGMUT_447 Y00816.1(CR1):c.1333G>A #insertion in reference# BGMUT substitution exon 1 BGMUT_448 Y00816.1(CR1):c.2051T>C BGMUT substitution exon 1 BGMUT_449 Y00816.1(CR1):c.2340T>C BGMUT substitution exon 1 BGMUT_45 AF134412.1(ABO):c.[261delG #insertion in reference#; 373+784G>A; 373+1019C>T] BGMUT complex not within known transcription unit 1 BGMUT_450 Y00816.1(CR1):c.3066G>T BGMUT substitution exon 1 BGMUT_451 Y00816.1(CR1):c.3623A>G BGMUT substitution exon 1 BGMUT_452 Y00816.1(CR1):c.4014A>C BGMUT substitution exon 1 BGMUT_453 Y00816.1(CR1):c.4145G>C BGMUT substitution exon 1 BGMUT_454 Y00816.1(CR1):c.4223C>T BGMUT substitution exon 1 BGMUT_455 Y00816.1(CR1):c.4843A>G BGMUT substitution exon 1 BGMUT_456 Y00816.1(CR1):c.5397A>G BGMUT substitution exon 1 BGMUT_457 Y00816.1(CR1):c.5480C>G BGMUT substitution exon 1 BGMUT_458 Y00816.1(CR1):c.5548C>G BGMUT substitution exon 1 BGMUT_459 Y00816.1(CR1):c.5627C>T BGMUT substitution exon 1 BGMUT_46 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G] BGMUT complex not within known transcription unit 1 BGMUT_461 X53578.1(FUT3):c.[47G>C; 508G>A] BGMUT substitution exon 1 BGMUT_462 X53578.1(FUT3):c.[47G>C; 202T>C; 314C>T] BGMUT substitution exon 1 BGMUT_463 X53578.1(FUT3):c.59T>G BGMUT substitution exon 1 BGMUT_464 X53578.1(FUT3):c.1067T>A BGMUT substitution exon 1 BGMUT_465 X53578.1(FUT3):c.[59T>G; 508G>A] BGMUT substitution exon 1 BGMUT_466 X53578.1(FUT3):c.[59T>G; 1067T>A] BGMUT substitution exon 1 BGMUT_467 X53578.1(FUT3):c.[202T>C; 314C>T] BGMUT substitution exon 1 BGMUT_468 X53578.1(FUT3):c.[202T>C; 1067T>A] BGMUT substitution exon 1 BGMUT_469 X53578.1(FUT3):c.[59T>G; 445C>A] BGMUT substitution exon 1 BGMUT_47 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 681G>A; 771C>T; 829G>A; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_470 X53578.1(FUT3):c.[202T>C; 314C>T; 484G>A] BGMUT substitution exon 1 BGMUT_471 X53578.1(FUT3):c.[484G>A; 667G>A] BGMUT substitution exon 1 BGMUT_472 X53578.1(FUT3):c.[484G>A; 667G>A; 808G>A] BGMUT substitution exon 1 BGMUT_473 X53578.1(FUT3):c.760G>A BGMUT substitution exon 1 BGMUT_474 X53578.1(FUT3):c.304C>A BGMUT substitution exon 1 BGMUT_475 X53578.1(FUT3):c.370T>G BGMUT substitution exon 1 BGMUT_477 M98825.1(FUT6):c.[370C>T; 730C>G; 907C>G] BGMUT substitution exon 1 BGMUT_478 M98825.1(FUT6):c.[370C>T; 907C>G] BGMUT substitution exon 1 BGMUT_479 M98825.1(FUT6):c.[370C>T; 739G>A] BGMUT substitution exon 1 BGMUT_48 AF134412.1(ABO):c.[646T>A; 681G>A; 771C>T; 829G>A; 373+1011A>G; 373+1013G>A] BGMUT substitution not within known transcription unit 1 BGMUT_480 M98825.1(FUT6):c.[739G>A; 945C>A] BGMUT substitution exon 1 BGMUT_482 M98825.1(FUT6):c.63G>A BGMUT substitution exon 1 BGMUT_483 M98825.1(FUT6):c.[63G>A; 172G>A; 376C>T] BGMUT substitution exon 1 BGMUT_484 M98825.1(FUT6):c.[63G>A; 172G>A; 376C>T; 527G>T] BGMUT substitution exon 1 BGMUT_485 M98825.1(FUT6):c.729T>C BGMUT substitution exon 1 BGMUT_486 M98825.1(FUT6):c.[738C>T; 977G>A] BGMUT substitution exon 1 BGMUT_487 M98825.1(FUT6):c.1002C>G BGMUT substitution exon 1 BGMUT_488 M98825.1(FUT6):c.[370C>T; 1002C>G] BGMUT substitution exon 1 BGMUT_489 M98825.1(FUT6):c.[370C>T; 907C>G; 1002C>G] BGMUT substitution exon 1 BGMUT_49 AF134412.1(ABO):c.[297A>G; 646T>A; 681G>A; 771C>T; 829G>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_490 M98825.1(FUT6):c.[879C>T; 971C>T; 1002C>G] BGMUT substitution exon 1 BGMUT_491 M98825.1(FUT6):c.[855G>A; 1002C>G] BGMUT substitution exon 1 BGMUT_492 M98825.1(FUT6):c.[370C>T; 739G>A; 1002C>G] BGMUT substitution exon 1 BGMUT_493 M98825.1(FUT6):c.[370C>T; 739G>A; 945C>A; 1002C>G] BGMUT substitution exon 1 BGMUT_494 M98825.1(FUT6):c.[18G>A; 336C>A; 499_501insC; 855G>A; 1002C>G] BGMUT complex exon 1 BGMUT_495 M98825.1(FUT6):c.[18G>A; 336C>A; 499_501insC; 855G>A; 977G>A; 1002C>G] BGMUT complex exon 1 BGMUT_497 U11282.1(FUT7):c.329G>A BGMUT substitution exon 1 BGMUT_498 X83425.1(LU):c.230G>A BGMUT substitution exon 1 BGMUT_499 X83425.1(LU):c.1615G>A BGMUT substitution exon 1 BGMUT_5 AF134412.1(ABO):c.[467C>T; 564C>T] BGMUT substitution exon 1 BGMUT_50 AF134412.1(ABO):c.[88_89insG; 261delG #insertion in reference#; 467C>T] BGMUT complex exon 1 BGMUT_502 X83425.1(LU):c.524G>A BGMUT substitution exon 1 BGMUT_503 X83425.1(LU):c.326G>A BGMUT substitution exon 1 BGMUT_504 X83425.1(LU):c.824C>T BGMUT substitution exon 1 BGMUT_505 X83425.1(LU):c.1878C>T BGMUT substitution exon 1 BGMUT_506 X83425.1(LU):c.611T>A BGMUT substitution exon 1 BGMUT_507 X83425.1(LU):c.99_104delGCGCTT BGMUT deletion exon 1 BGMUT_508 X83425.1(LU):c.419G>A BGMUT substitution exon 1 BGMUT_509 X83425.1(LU):c.[1340C>T; 1671C>T; 1742A>T] BGMUT substitution exon 1 BGMUT_51 AF134412.1(ABO):c.373+784G>A BGMUT substitution intron 1 BGMUT_510 X83425.1(LU):c.679C>T BGMUT substitution exon 1 BGMUT_511 X83425.1(LU):c.[340G>A; 1971C>T] BGMUT substitution exon 1 BGMUT_512 X83425.1(LU):c.905C>T BGMUT substitution exon 1 BGMUT_513 X83425.1(LU):c.282C>G BGMUT substitution exon 1 BGMUT_514 X83425.1(LU):c.711C>A BGMUT substitution exon 1 BGMUT_516 S78852.1(ICAM4):c.299A>G BGMUT substitution exon 1 BGMUT_517 S78852.1(ICAM4):c.346_355del10 BGMUT deletion exon 1 BGMUT_519 L10240.1(BSG):c.370C>T BGMUT substitution exon 1 BGMUT_52 AF134412.1(ABO):c.[261delG #insertion in reference#; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_520 L10240.1(BSG):c.274G>A BGMUT substitution exon 1 BGMUT_521 L10240.1(BSG):c.[176G>T; 195C>T; 234C>G] BGMUT substitution exon 1 BGMUT_522 L10240.1(BSG):c.327T>C BGMUT substitution exon 1 BGMUT_524 AJ245581.1(A4GALT):c.68_69insT BGMUT insertion exon 1 BGMUT_525 AJ245581.1(A4GALT):c.237_239delCTT BGMUT deletion exon 1 BGMUT_526 AJ245581.1(A4GALT):c.241_243delTTC BGMUT deletion exon 1 BGMUT_527 AJ245581.1(A4GALT):c.287G>A BGMUT substitution exon 1 BGMUT_528 AJ245581.1(A4GALT):c.[290C>T; 109A>G; 987G>A] BGMUT substitution exon 1 BGMUT_529 AJ245581.1(A4GALT):c.300_301delG BGMUT deletion exon 1 BGMUT_53 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 771C>T; 829G>A; 1054C>T] BGMUT complex exon 1 BGMUT_530 AJ245581.1(A4GALT):c.[470_497ins; 907G>C] BGMUT complex exon 1 BGMUT_531 AJ245581.1(A4GALT):c.473G>A BGMUT substitution exon 1 BGMUT_532 AJ245581.1(A4GALT):c.[502_504insC; 914C>T] BGMUT complex exon 1 BGMUT_533 AJ245581.1(A4GALT):c.548T>A BGMUT substitution exon 1 BGMUT_534 AJ245581.1(A4GALT):c.[548T>A; 987G>A] BGMUT substitution exon 1 BGMUT_535 AJ245581.1(A4GALT):c.560G>A BGMUT substitution exon 1 BGMUT_536 AJ245581.1(A4GALT):c.656C>T BGMUT substitution exon 1 BGMUT_537 AJ245581.1(A4GALT):c.657delG BGMUT deletion exon 1 BGMUT_538 AJ245581.1(A4GALT):c.[732_733insG; 903C>G] BGMUT complex exon 1 BGMUT_539 AJ245581.1(A4GALT):c.751C>T BGMUT substitution exon 1 BGMUT_54 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1096G>A] BGMUT complex exon 1 BGMUT_540 AJ245581.1(A4GALT):c.752C>T BGMUT substitution exon 1 BGMUT_541 AJ245581.1(A4GALT):c.[752C>T; 903C>G] BGMUT substitution exon 1 BGMUT_542 AJ245581.1(A4GALT):c.[109A>G; 903C>G; 987G>A] BGMUT substitution exon 1 BGMUT_543 AJ245581.1(A4GALT):c.972_997del BGMUT deletion exon 1 BGMUT_544 AJ245581.1(A4GALT):c.[972_997del; 109A>G; 903C>G] BGMUT complex exon 1 BGMUT_545 AJ245581.1(A4GALT):c.[769delG; 903C>G] BGMUT complex exon 1 BGMUT_546 AJ245581.1(A4GALT):c.783G>A BGMUT substitution exon 1 BGMUT_547 AJ245581.1(A4GALT):c.900_902delC BGMUT deletion exon 1 BGMUT_548 AJ245581.1(A4GALT):c.1026_1029insC BGMUT insertion exon 1 BGMUT_549 AJ245581.1(A4GALT):c.-550_-549insC BGMUT insertion not within known transcription unit 1 BGMUT_55 AF134412.1(ABO):c.[261delG #insertion in reference#; 454T>C] BGMUT complex exon 1 BGMUT_550 AJ245581.1(A4GALT):c.-160A>G BGMUT substitution not within known transcription unit 1 BGMUT_552 AB050855.1(B3GALT3):c.202C>T BGMUT substitution exon 1 BGMUT_553 AB050855.1(B3GALT3):c.292_293insA BGMUT insertion exon 1 BGMUT_554 AB050855.1(B3GALT3):c.433C>T BGMUT substitution exon 1 BGMUT_555 AB050855.1(B3GALT3):c.537_538insA BGMUT insertion exon 1 BGMUT_556 AB050855.1(B3GALT3):c.648A>C BGMUT substitution exon 1 BGMUT_557 AB050855.1(B3GALT3):c.797A>C BGMUT substitution exon 1 BGMUT_558 AB050855.1(B3GALT3):c.811G>A BGMUT substitution exon 1 BGMUT_559 AB050855.1(B3GALT3):c.959G>A BGMUT substitution exon 1 BGMUT_56 AF134412.1(ABO):c.[261delG #insertion in reference#; 768C>A] BGMUT complex exon 1 BGMUT_563 L08429.1(RHD):c.1060G>A BGMUT substitution exon 1 BGMUT_564 L08429.1(RHD):c.[455A>C; 602C>G; 667T>G] BGMUT substitution exon 1 BGMUT_567 L08429.1(RHD):c.[186G>T; 410C>T; 455A>C] BGMUT substitution exon 1 BGMUT_568 L08429.1(RHD):c.[186G>T; 410C>T; 455A>C; 602C>G; 667T>G; 819G>A] BGMUT substitution exon 1 BGMUT_570 L08429.1(RHD):c.[186G>T; 455A>C; 1048G>C] BGMUT substitution exon 1 BGMUT_573 L08429.1(RHD):c.[667T>G; 697G>C] BGMUT substitution exon 1 BGMUT_575 L08429.1(RHD):c.[667T>G; 697G>C; 712G>A; 1273G>C] BGMUT substitution exon 1 BGMUT_576 L08429.1(RHD):c.697G>A BGMUT substitution exon 1 BGMUT_58 AF134412.1(ABO):c.[261delG #insertion in reference#; 318C>T; 467C>T; 729C>T] BGMUT complex exon 1 BGMUT_580 L08429.1(RHD):c.329T>C BGMUT substitution exon 1 BGMUT_581 L08429.1(RHD):c.[307T>C; 329T>C] BGMUT substitution exon 1 BGMUT_582 L08429.1(RHD):c.[602C>G; 667T>G; 1025T>C] BGMUT substitution exon 1 BGMUT_583 L08429.1(RHD):c.[505A>C; 509T>G; 514A>T] BGMUT substitution exon 1 BGMUT_587 L08429.1(RHD):c.848C>T BGMUT substitution exon 1 BGMUT_588 L08429.1(RHD):c.854G>A BGMUT substitution exon 1 BGMUT_589 L08429.1(RHD):c.1057G>A BGMUT substitution exon 1 BGMUT_59 AF134412.1(ABO):c.[261delG #insertion in reference#; 926A>G] BGMUT complex exon 1 BGMUT_590 L08429.1(RHD):c.497A>C BGMUT substitution exon 1 BGMUT_591 L08429.1(RHD):c.1063G>A BGMUT substitution exon 1 BGMUT_592 L08429.1(RHD):c.621G>C BGMUT substitution exon 1 BGMUT_593 L08429.1(RHD):c.1073T>C BGMUT substitution exon 1 BGMUT_594 L08429.1(RHD):c.680T>C BGMUT substitution exon 1 BGMUT_595 L08429.1(RHD):c.851C>T BGMUT substitution exon 1 BGMUT_596 L08429.1(RHD):c.384T>C BGMUT substitution exon 1 BGMUT_598 L08429.1(RHD):c.8C>G BGMUT substitution exon 1 BGMUT_599 L08429.1(RHD):c.29G>A BGMUT substitution exon 1 BGMUT_6 AF134412.1(ABO):c.297A>G BGMUT substitution exon 1 BGMUT_60 AF134412.1(ABO):c.[261delG #insertion in reference#; 318C>T; 373+784G>A] BGMUT complex not within known transcription unit 1 BGMUT_600 L08429.1(RHD):c.446C>A BGMUT substitution exon 1 BGMUT_601 L08429.1(RHD):c.658T>C BGMUT substitution exon 1 BGMUT_602 L08429.1(RHD):c.809T>G BGMUT substitution exon 1 BGMUT_603 L08429.1(RHD):c.826G>C BGMUT substitution exon 1 BGMUT_604 L08429.1(RHD):c.830G>A BGMUT substitution exon 1 BGMUT_605 L08429.1(RHD):c.845G>A BGMUT substitution exon 1 BGMUT_606 L08429.1(RHD):c.880G>C BGMUT substitution exon 1 BGMUT_607 L08429.1(RHD):c.885G>T BGMUT substitution exon 1 BGMUT_608 L08429.1(RHD):c.919G>A BGMUT substitution exon 1 BGMUT_609 L08429.1(RHD):c.1016G>A BGMUT substitution exon 1 BGMUT_61 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_610 L08429.1(RHD):c.1154G>A BGMUT substitution exon 1 BGMUT_611 L08429.1(RHD):c.1177T>C BGMUT substitution exon 1 BGMUT_612 L08429.1(RHD):c.[602C>G; 667T>G] BGMUT substitution exon 1 BGMUT_613 L08429.1(RHD):c.[602C>G; 667T>G; 149-29C>G; 149-256_149-255insG; 1227+55A>G] BGMUT complex not within known transcription unit 1 BGMUT_614 L08429.1(RHD):c.[48G>C; 602C>G; 667T>G; 819G>A] BGMUT substitution exon 1 BGMUT_615 L08429.1(RHD):c.[602C>G; 667T>G; 957G>A; 1025T>C] BGMUT substitution exon 1 BGMUT_616 L08429.1(RHD):c.[602C>G; 667T>G; 744C>T; 957G>A; 1025T>C] BGMUT substitution exon 1 BGMUT_617 L08429.1(RHD):c.340C>T BGMUT substitution exon 1 BGMUT_618 L08429.1(RHD):c.[178A>T; 203G>A; 594A>T; 667T>G; 1025T>G; 149-29C>G; 149-256_149-255insG; 335+36A>G] BGMUT complex not within known transcription unit 1 BGMUT_619 L08429.1(RHD):c.[544T>A; 594A>T; 602C>G] BGMUT substitution exon 1 BGMUT_62 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 529G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_620 L08429.1(RHD):c.634G>T BGMUT substitution exon 1 BGMUT_621 L08429.1(RHD):c.1013T>C BGMUT substitution exon 1 BGMUT_622 L08429.1(RHD):c.26T>A BGMUT substitution exon 1 BGMUT_623 L08429.1(RHD):c.399G>T BGMUT substitution exon 1 BGMUT_624 L08429.1(RHD):c.833G>A BGMUT substitution exon 1 BGMUT_625 L08429.1(RHD):c.1015G>A BGMUT substitution exon 1 BGMUT_626 L08429.1(RHD):c.520G>A BGMUT substitution exon 1 BGMUT_627 L08429.1(RHD):c.809T>A BGMUT substitution exon 1 BGMUT_628 L08429.1(RHD):c.1136C>T BGMUT substitution exon 1 BGMUT_629 L08429.1(RHD):c.[579G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_63 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 538C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G;..] BGMUT complex not within known transcription unit 1 BGMUT_630 L08429.1(RHD):c.[689G>T; 1136C>T] BGMUT substitution exon 1 BGMUT_631 L08429.1(RHD):c.[209G>A; 998G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_632 L08429.1(RHD):c.[835G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_633 L08429.1(RHD):c.[697G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_637 L08429.1(RHD):c.121C>T BGMUT substitution exon 1 BGMUT_639 L08429.1(RHD):c.600delG BGMUT deletion exon 1 BGMUT_64 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 498C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G;..] BGMUT complex not within known transcription unit 1 BGMUT_645 L08429.1(RHD):c.47G>A BGMUT substitution exon 1 BGMUT_646 L08429.1(RHD):c.635G>T BGMUT substitution exon 1 BGMUT_647 L08429.1(RHD):c.1153+1G>A BGMUT substitution intron 1 BGMUT_648 L08429.1(RHD):c.269G>A BGMUT substitution exon 1 BGMUT_65 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 351G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G;..] BGMUT complex not within known transcription unit 1 BGMUT_650 L08429.1(RHD):c.[906_907insGGCT; 939+2T>A] BGMUT complex not within known transcription unit 1 BGMUT_651 L08429.1(RHD):c.933C>A BGMUT substitution exon 1 BGMUT_652 L08429.1(RHD):c.335+1G>A BGMUT substitution intron 1 BGMUT_653 L08429.1(RHD):c.554G>A BGMUT substitution exon 1 BGMUT_657 L08429.1(RHD):c.1222T>C BGMUT substitution exon 1 BGMUT_658 L08429.1(RHD):c.486+1G>A BGMUT substitution intron 1 BGMUT_659 L08429.1(RHD):c.885G>T BGMUT substitution exon 1 BGMUT_66 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_660 L08429.1(RHD):c.[1227+1G>A; 1227+1227G>A] BGMUT substitution intron 1 BGMUT_661 L08429.1(RHD):c.801+38delCTCT BGMUT deletion intron 1 BGMUT_662 L08429.1(RHD):c.1252_1253insT BGMUT insertion exon 1 BGMUT_663 L08429.1(RHD):c.1203T>A BGMUT substitution exon 1 BGMUT_668 DQ322275.1(RHCE):c.500T>A BGMUT substitution exon 1 BGMUT_67 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A] BGMUT complex exon 1 BGMUT_671 DQ322275.1(RHCE):c.[697C>G; 712A>G] BGMUT substitution exon 1 BGMUT_673 DQ322275.1(RHCE):c.733C>G BGMUT substitution exon 1 BGMUT_674 DQ322275.1(RHCE):c.106G>A BGMUT substitution exon 1 BGMUT_675 DQ322275.1(RHCE):c.602G>C BGMUT substitution exon 1 BGMUT_676 DQ322275.1(RHCE):c.461G>C BGMUT substitution exon 1 BGMUT_677 DQ322275.1(RHCE):c.122A>G BGMUT substitution exon 1 BGMUT_678 DQ322275.1(RHce):c.286G>A BGMUT substitution exon 1 BGMUT_68 AF134412.1(ABO):c.[220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG;..] BGMUT complex not within known transcription unit 1 BGMUT_680 DQ322275.1(RHCE):c.[48G>C; 712A>G; 733C>G; 787A>G; 800T>A; 916A>G] BGMUT substitution exon 1 BGMUT_681 DQ322275.1(RHCE):c.[48G>C; 667G>T] BGMUT substitution exon 1 BGMUT_69 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T;..] BGMUT complex not within known transcription unit 1 BGMUT_691 DQ322275.1(RHCE):c.685_687delAGA BGMUT deletion exon 1 BGMUT_696 DQ322275.1(RHCE):c.350_358del BGMUT deletion exon 1 BGMUT_698 DQ322275.1(RHCE):c.634+1G>T BGMUT substitution intron 1 BGMUT_699 DQ322275.1(RHCE):c.80_84del BGMUT deletion exon 1 BGMUT_7 AF134412.1(ABO):c.[467C>T; 373+163T>C; 373+179C>T] BGMUT substitution not within known transcription unit 1 BGMUT_70 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+163T>C; 373+179C>T; 373+271A>G; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT complex not within known transcription unit 1 BGMUT_702 X64594.1(RHAG):c.236G>A BGMUT substitution exon 1 BGMUT_703 X64594.1(RHAG):c.3G>T BGMUT substitution exon 1 BGMUT_704 X64594.1(RHAG):c.1183delA BGMUT deletion exon 1 BGMUT_705 X64594.1(RHAG):c.836G>A BGMUT substitution exon 1 BGMUT_706 X64594.1(RHAG):c.[808G>A; 838G>A] BGMUT substitution exon 1 BGMUT_707 X64594.1(RHAG):c.946-1G>A BGMUT substitution intron 1 BGMUT_709 X64594.1(RHAG):c.157+1G>A BGMUT substitution intron 1 BGMUT_71 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A;..] BGMUT complex not within known transcription unit 1 BGMUT_710 X64594.1(RHAG):c.1067+1G>A BGMUT substitution intron 1 BGMUT_711 X64594.1(RHAG):c.1139G>T BGMUT substitution exon 1 BGMUT_712 DQ322275.1(RHCE):c.[48G>C; 150C>T; 178C>A; 201A>G; 203A>G; 307C>T] BGMUT substitution exon 1 BGMUT_713 DQ322275.1(RHCE):c.[48G>C; 150C>T; 178C>A; 201A>G; 203A>G; 307C>T; 676G>C] BGMUT substitution exon 1 BGMUT_714 DQ322275.1(RHCE):c.676G>C BGMUT substitution exon 1 BGMUT_72 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+192G>A; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_724 Z32684.2(XK):c.508+5G>A BGMUT substitution intron 1 BGMUT_725 Z32684.2(XK):c.268delT BGMUT deletion exon 1 BGMUT_726 Z32684.2(XK):c.245+1G>C BGMUT substitution intron 1 BGMUT_73 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_735 Z32684.2(XK):c.686_687delTT BGMUT deletion exon 1 BGMUT_736 Z32684.2(XK):c.771delG BGMUT deletion exon 1 BGMUT_737 Z32684.2(XK):c.856_860delCTCTA BGMUT deletion exon 1 BGMUT_738 Z32684.2(XK):c.938_951del BGMUT deletion exon 1 BGMUT_74 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 771C>T; 373+89T>A; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_740 Z32684.2(XK):c.1013delT BGMUT deletion exon 1 BGMUT_742 Z32684.2(XK):c.245+1G>C BGMUT substitution intron 1 BGMUT_743 Z32684.2(XK):c.107G>A BGMUT substitution exon 1 BGMUT_744 Z32684.2(XK):c.397C>T BGMUT substitution exon 1 BGMUT_745 Z32684.2(XK):c.463C>T BGMUT substitution exon 1 BGMUT_746 Z32684.2(XK):c.707G>A BGMUT substitution exon 1 BGMUT_747 Z32684.2(XK):c.880T>C BGMUT substitution exon 1 BGMUT_748 Z32684.2(XK):c.895C>T BGMUT substitution exon 1 BGMUT_749 Z32684.2(XK):c.664C>G BGMUT substitution exon 1 BGMUT_75 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_750 Z32684.2(XK):c.941G>A BGMUT substitution exon 1 BGMUT_751 Z32684.2(XK):c.979G>A BGMUT substitution exon 1 BGMUT_752 Z32684.2(XK):c.391del1 BGMUT deletion exon 1 BGMUT_754 AY049028.1(ERMAP):c.169G>A BGMUT substitution exon 1 BGMUT_755 AY049028.1(ERMAP):c.[54C>T; 76C>T; 307_309del] BGMUT complex exon 1 BGMUT_756 AY049028.1(ERMAP):c.178C>G BGMUT substitution exon 1 BGMUT_757 AY049028.1(ERMAP):c.139G>A BGMUT substitution exon 1 BGMUT_759 BT007397.1(CD151):c.383_384insG BGMUT insertion exon 1 BGMUT_76 AF134412.1(ABO):c.[261delG #insertion in reference#; 373+163T>C; 373+188G>A; 373+268T>G; 373+446A>G; 373+582C>T; 373+786A>G; 373+788G>A; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_760 BT007397.1(CD151):c.533G>A BGMUT substitution exon 1 BGMUT_762 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1170C>T; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T;..] BGMUT complex not within known transcription unit 1 BGMUT_764 AF134412.1(ABO):c.[467C>T; 1061delC; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T;..] BGMUT complex not within known transcription unit 1 BGMUT_765 M35531.1(FUT1):c.293C>T BGMUT substitution exon 1 BGMUT_766 AF134412.1(ABO):c.[467C>T; 539G>A; 1061delC] BGMUT complex exon 1 BGMUT_77 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 526C>G; 649C>T; 689G>A; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_771 AF134412.1(ABO):c.[467C>T; 539G>C] BGMUT substitution exon 1 BGMUT_772 M35531.1(FUT1):c.682A>G BGMUT substitution exon 1 BGMUT_773 L08429.1(RHD):c.636C>T BGMUT substitution exon 1 BGMUT_774 L08429.1(RHD):c.[667T>G; 697G>C; 1136C>T] BGMUT substitution exon 1 BGMUT_775 L08429.1(RHD):c.700A>T BGMUT substitution exon 1 BGMUT_776 L08429.1(RHD):c.733G>C BGMUT substitution exon 1 BGMUT_777 DQ322275.1(RHCE):c.365C>T BGMUT substitution exon 1 BGMUT_778 AF134412.1(ABO gene):c.784G>A BGMUT substitution exon 1 BGMUT_779 L08429.1(RHD):c.[998G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_78 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 526C>G; 689G>A; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_781 L08429.1(RHD):c.[667T>G; 674C>T] BGMUT substitution exon 1 BGMUT_782 L08429.1(RHD):c.1226A>T BGMUT substitution exon 1 BGMUT_783 L08429.1(RHD):c.[52C>G; 809T>G] BGMUT substitution exon 1 BGMUT_784 L08429.1(RHD):c.17C>T BGMUT substitution exon 1 BGMUT_785 L08429.1(RHD):c.1121T>A BGMUT substitution exon 1 BGMUT_786 AF134412.1(ABO):c.[425T>C; 467C>T] BGMUT substitution exon 1 BGMUT_79 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_790 AY159319.1(C1GALT1C1):c.[202C>T; 393T>A] BGMUT substitution exon 1 BGMUT_791 AY159319.1(C1GALT1C1):c.454G>A BGMUT substitution exon 1 BGMUT_792 AY159319.1(C1GALT1C1):c.393T>A BGMUT substitution exon 1 BGMUT_794 AF134412.1(ABO):c.[297A>G; 526C>G; 640A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_795 AF134412.1(ABO):c.[297A>G; 526C>G; 641T>C; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_797 AF134412.1(ABO):c.[467C>T; 543G>T] BGMUT substitution exon 1 BGMUT_798 AJ245581.1(A4GALT):c.[-550_-549insC; -160A>G; 987G>A; 1697G>A] BGMUT complex not within known transcription unit 1 BGMUT_799 AJ245581.1(A4GALT):c.[109A>G; 987G>A] BGMUT substitution exon 1 BGMUT_8 AF134412.1(ABO):c.[297A>G; 467C>T; 373+42G>T; 373+163C>t; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+786A>G] BGMUT complex not within known transcription unit 1 BGMUT_80 AF134412.1(ABO):c.88_89insG BGMUT insertion exon 1 BGMUT_800 AJ245581.1(A4GALT):c.[109A>G; 987G>A; 1697G>A] BGMUT substitution exon 1 BGMUT_801 U17894.1(FUT2):c.[357C>T; 716G>A] BGMUT substitution exon 1 BGMUT_802 M35531.1(FUT1):c.328G>A BGMUT substitution exon 1 BGMUT_803 M35531.1(FUT1):c.586C>T BGMUT substitution exon 1 BGMUT_805 M35531.1(FUT1):c.35C>T BGMUT substitution exon 1 BGMUT_806 AY049028.1(ERMAP):c.[54C>T; 76C>T; 103G>A] BGMUT substitution exon 1 BGMUT_807 AY049028.1(ERMAP):c.994C>T BGMUT substitution exon 1 BGMUT_808 AY049028.1(ERMAP):c.242G>A BGMUT substitution exon 1 BGMUT_809 AY049028.1(ERMAP):c.[994C>T; 1514C>T] BGMUT substitution exon 1 BGMUT_81 AF134412.1(ABO):c.322C>T BGMUT substitution exon 1 BGMUT_810 AF134412.1(ABO):c.[523G>A; 721C>T] BGMUT substitution exon 1 BGMUT_812 U17894.1(FUT2):c.[357C>T; 685G>A] BGMUT substitution exon 1 BGMUT_813 U17894.1(FUT2):c.400G>A BGMUT substitution exon 1 BGMUT_815 DQ322275.1(RHCE):c.48G>C BGMUT substitution exon 1 BGMUT_816 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 502C>T; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_817 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 695T>C; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_818 AF134412.1(ABO):c.[467C>T; 829G>A; 1009A>G] BGMUT substitution exon 1 BGMUT_819 AF134412.1(ABO):c.[261delG #insertion in reference#; 496delA] BGMUT deletion exon 1 BGMUT_82 AF134412.1(ABO):c.542G>A BGMUT substitution exon 1 BGMUT_820 AF134412.1(ABO):c.[467C>T; 527G>A; 1061delC] BGMUT complex exon 1 BGMUT_821 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>A; 892G>T; 930G>A] BGMUT substitution exon 1 BGMUT_822 AF134412.1(ABO):c.[297A>G; 498C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>A; 930G>A] BGMUT substitution exon 1 BGMUT_823 AF134412.1(ABO):c.[297A>G; 523G>A; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_824 AF134412.1(ABO):c.[297A>G; 306C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>A; 930G>A] BGMUT substitution exon 1 BGMUT_825 AF134412.1(ABO):c.[467C>T; 556A>G] BGMUT substitution exon 1 BGMUT_826 AF134412.1(ABO):c.[278C>T; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_827 AF134412.1(ABO):c.[261delG #insertion in reference#; 802G>A] BGMUT complex exon 1 BGMUT_828 AF134412.1(ABO):c.2T>C BGMUT substitution exon 1 BGMUT_829 AJ245581.1(A4GALT):c.[-773C>G; -770C>G; -638A>C; -550_-549insC; -212C>G; -164C>T; -160A>G] BGMUT complex not within known transcription unit 1 BGMUT_83 AF134412.1(ABO):c.871G>A BGMUT substitution exon 1 BGMUT_832 L08429.1(RHD):c.667T>G BGMUT substitution exon 1 BGMUT_833 L08429.1(RHD):c.[410C>T; 455A>C; 602C>G; 667T>G; 819G>A] BGMUT substitution exon 1 BGMUT_835 L08429.1(RHD):c.[602C>G; 667T>G; 697G>C; 957G>A; 1025T>C] BGMUT substitution exon 1 BGMUT_836 DQ322275.1(RHCE):c.[48G>C; 105C>T; 365C>T] BGMUT substitution exon 1 BGMUT_837 AF134412.1(ABO):c.[467C>T; 681G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_838 AF134412.1(ABO):c.[261delC #insertion in reference#; 297A>G; 646T>A; 681G>A; 687C>T; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_839 AF134412.1(ABO):c.[261delC #insertion in reference#; 297A>G; 1116G>A] BGMUT complex exon 1 BGMUT_84 AF134412.1(ABO):c.[829G>A; 1061delC] BGMUT complex exon 1 BGMUT_840 AF134412.1(ABO):c.[297A>G; 425T>C; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_841 M36284.1(GYPC):c.95C>A BGMUT substitution exon 1 BGMUT_842 AF134412.1(ABO):c.[297A>G; 526C>G; 547G>A; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_845 AF290204.1(DO):c.[378C>T; 624T>C; 793A>G; 898C>G] BGMUT substitution exon 1 BGMUT_847 M35531.1(FUT1):c.661C>T BGMUT substitution exon 1 BGMUT_848 DQ322275.1(RHce):c.[48G>C; 538G>C] BGMUT substitution exon 1 BGMUT_85 AF134412.1(ABO):c.838C>T BGMUT substitution exon 1 BGMUT_851 M64934.2(KEL):c.1868G>A BGMUT substitution exon 1 BGMUT_852 M64934.2(KEL):c.913G>A BGMUT substitution exon 1 BGMUT_853 L08429.1(RHD):c.611T>C BGMUT substitution exon 1 BGMUT_854 L08429.1(RHD):c.1250T>C BGMUT substitution exon 1 BGMUT_855 DQ322275.1(RHCE):c.[48G>C; 697C>G; 733C>G] BGMUT substitution exon 1 BGMUT_859 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 930G>A] BGMUT substitution exon 1 BGMUT_86 AF134412.1(ABO):c.646T>A BGMUT substitution exon 1 BGMUT_860 L08429.1(RHD):c.3G>A BGMUT substitution exon 1 BGMUT_861 L08429.1(RHD):c.28C>T BGMUT substitution exon 1 BGMUT_862 L08429.1(RHD):c.53T>C BGMUT substitution exon 1 BGMUT_863 L08429.1(RHD):c.251T>C BGMUT substitution exon 1 BGMUT_864 AF458026.1(IGnT C):c.243T>A BGMUT substitution exon 1 BGMUT_865 M35531.1(FUT1):c.[538C>T; 1089T>G] BGMUT substitution exon 1 BGMUT_866 M35531.1(FUT1):c.689A>C BGMUT substitution exon 1 BGMUT_867 M64934.2(KEL):c.1899A>G BGMUT substitution exon 1 BGMUT_868 L08429.1(RHD):c.684_686delGAG BGMUT deletion exon 1 BGMUT_869 L08429.1(RHD):c.705_707delGAA BGMUT deletion exon 1 BGMUT_87 AF134412.1(ABO):c.[297A>G; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_870 DQ322275.1(RHce):c.685_687delAGA BGMUT deletion exon 1 BGMUT_871 M35531.1(FUT1):c.917C>T BGMUT substitution exon 1 BGMUT_872 M35531.1(FUT1):c.[35C>T; 269G>T] BGMUT substitution exon 1 BGMUT_873 U17894.1(FUT2):c.[278C>T; 357C>T] BGMUT substitution exon 1 BGMUT_874 M35531.1(FUT1):c.422G>A BGMUT substitution exon 1 BGMUT_875 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 952G>A] BGMUT substitution exon 1 BGMUT_876 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 930G>A] BGMUT substitution exon 1 BGMUT_879 AY885237.1(SEMA7A):c.620G>A BGMUT substitution exon 1 BGMUT_88 AF134412.1(ABO):c.[646T>A; 681G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_880 AY885237.1(SEMA7A):c.1379G>A BGMUT substitution exon 1 BGMUT_881 AY885237.1(SEMA7A):c.1381C>T BGMUT substitution exon 1 BGMUT_883 AY885237.1(SEMA7A):c.[619C>T; 1545A>G] BGMUT substitution exon 1 BGMUT_884 Y00816.1(CR1):c.4619A>G BGMUT substitution exon 1 BGMUT_885 AY885237.1(SEMA7A):c.507C>T BGMUT substitution exon 1 BGMUT_886 AY885237.1(SEMA7A):c.1059C>T BGMUT substitution exon 1 BGMUT_887 AY885237.1(SEMA7A):c.1239C>T BGMUT substitution exon 1 BGMUT_888 L08429.1(RHD):c.[594A>T; 602C>G] BGMUT substitution exon 1 BGMUT_889 L08429.1(RHD):c.92T>C BGMUT substitution exon 1 BGMUT_89 AF134412.1(ABO):c.[646T>A; 681G>A] BGMUT substitution exon 1 BGMUT_890 L08429.1(RHD):c.740T>G BGMUT substitution exon 1 BGMUT_891 L08429.1(RHD):c.[667T>G; 676G>C; 697G>C; 712G>A; 733G>C; 744C>T; 787G>A; 800A>T] BGMUT substitution exon 1 BGMUT_892 L08429.1(RHD):c.[667T>G; 676G>C; 697G>C; 712G>A; 733G>C; 744C>T] BGMUT substitution exon 1 BGMUT_894 X83425.1(LU):c.361C>T BGMUT substitution exon 1 BGMUT_895 X83425.1(LU):c.691C>T BGMUT substitution exon 1 BGMUT_896 L08429.1(RHD):c.325delA BGMUT deletion exon 1 BGMUT_898 DQ322275.1(RHCE):c.[48G>C; 733C>G] BGMUT substitution exon 1 BGMUT_899 M64934.2(KEL):c.924+1G>T BGMUT substitution intron 1 BGMUT_9 AF134412.1(ABO):c.[467C>T; 1061delC] BGMUT complex exon 1 BGMUT_900 M64934.2(KEL):c.924+1G>A BGMUT substitution intron 1 BGMUT_901 M64934.2(KEL):c.948G>A BGMUT substitution exon 1 BGMUT_902 M64934.2(KEL):c.1216C>T BGMUT substitution exon 1 BGMUT_903 M64934.2(KEL):c.1477C>T BGMUT substitution exon 1 BGMUT_904 M64934.2(KEL):c.1546C>T BGMUT substitution exon 1 BGMUT_905 M64934.2(KEL):c.1678C>G BGMUT substitution exon 1 BGMUT_906 M64934.2(KEL):c.2023C>T BGMUT substitution exon 1 BGMUT_907 M64934.2(KEL):c.986T>C BGMUT substitution exon 1 BGMUT_908 M64934.2(KEL):c.[306C>A; 1298C>T] BGMUT substitution exon 1 BGMUT_909 M64934.2(KEL):c.1763A>G BGMUT substitution exon 1 BGMUT_910 M64934.2(KEL):c.841C>T BGMUT substitution exon 1 BGMUT_911 AF134412.1(ABO):c.[467C>T; 699C>A] BGMUT substitution exon 1 BGMUT_912 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 802G>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_913 AF134412.1(ABO):c.[297A>G; 526C>G; 565A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_914 AF134412.1(ABO):c.[297A>G; 526C>G; 575T>C; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_915 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 784G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_916 AF134412.1(ABO):c.[297A>G; 526C>G; 646T>A; 681G>A; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_917 AF134412.1(ABO):c.[297A>G; 523G>A; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_919 L08429.1(RHD):c.494A>G BGMUT substitution exon 1 BGMUT_92 AF134412.1(ABO):c.996G>A BGMUT substitution exon 1 BGMUT_920 L08429.1(RHD):c.1148T>C BGMUT substitution exon 1 BGMUT_922 L08429.1(RHD):c.1219_1224delTTCTGG BGMUT deletion exon 1 BGMUT_924 L08429.1(RHD):c.640C>T BGMUT substitution exon 1 BGMUT_925 L08429.1(RHD):c.677C>A BGMUT substitution exon 1 BGMUT_926 L08429.1(RHD):c.1006G>C BGMUT substitution exon 1 BGMUT_927 L08429.1(RHD):c.65C>A BGMUT substitution exon 1 BGMUT_928 L08429.1(RHD):c.284A>G BGMUT substitution exon 1 BGMUT_929 L08429.1(RHD):c.330_331delGT BGMUT deletion exon 1 BGMUT_93 AF134412.1(ABO):c.[646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT substitution not within known transcription unit 1 BGMUT_930 L08429.1(RHD):c.[667T>G; 697G>C; 1136C>T; 1177T>C] BGMUT substitution exon 1 BGMUT_932 AF134412.1(ABO):c.820G>A BGMUT substitution exon 1 BGMUT_933 AF134412.1(ABO):c.[467C>T; 820G>A] BGMUT substitution exon 1 BGMUT_934 AF134412.1(ABO):c.[467C>T; 745C>T] BGMUT substitution exon 1 BGMUT_935 AF134412.1(ABO):c.[467C>T; 860C>T] BGMUT substitution exon 1 BGMUT_936 M27819.1(SLC4A1):c.2191T>C BGMUT substitution exon 1 BGMUT_937 M27819.1(SLC4A1):c.[166A>G; 1249C>T; 2201A>G] BGMUT substitution exon 1 BGMUT_938 M27819.1(SLC4A1):c.2113G>T BGMUT substitution exon 1 BGMUT_939 M27819.1(SLC4A1):c.2201A>G BGMUT substitution exon 1 BGMUT_94 AF134412.1(ABO):c.[407C>T; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_940 M27819.1(SLC4A1):c.2060T>C BGMUT substitution exon 1 BGMUT_941 AF134412.1(ABO):c.[87_88insGG; 203+560G>T] BGMUT complex not within known transcription unit 1 BGMUT_942 AF290204.1(DO):c.[185T>C; 378C>T; 624T>C; 793A>G] BGMUT substitution exon 1 BGMUT_943 M31516.1(DAF):c.466G>A BGMUT substitution exon 1 BGMUT_944 M31516.1(DAF):c.740A>G BGMUT substitution exon 1 BGMUT_945 U17894.1(FUT2):c.[210A>G; 357C>T] BGMUT substitution exon 1 BGMUT_946 U17894.1(FUT2):c.[357C>T; 380G>A; 385A>T] BGMUT substitution exon 1 BGMUT_947 U17894.1(FUT2):c.853G>A BGMUT substitution exon 1 BGMUT_948 U17894.1(FUT2):c.[357C>T; 855A>C] BGMUT substitution exon 1 BGMUT_949 U17894.1(FUT2):c.[171A>G; 216C>T; 428G>A; 572G>A; 739G>A; 960A>G; 1009A>G; 1011T>C] BGMUT substitution exon 1 BGMUT_95 AF134412.1(ABO):c.[350G>C; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_950 U17894.1(FUT2):c.[357C>T; 748_750insGTG] BGMUT complex exon 1 BGMUT_951 M59040.1(CD44):c.488C>A BGMUT substitution exon 1 BGMUT_953 L08429.1(RHD):c.[505A>C; 509T>G; 514A>T; 560T>A; 577G>A; 594A>T; 602C>G] BGMUT substitution exon 1 BGMUT_959 L08429.1(RHD):c.[667T>G; 676G>C] BGMUT substitution exon 1 BGMUT_96 AF134412.1(ABO):c.[203G>C; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_960 L08429.1(RHD):c.676G>C BGMUT substitution exon 1 BGMUT_961 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 816_817insG] BGMUT complex exon 1 BGMUT_962 AF134412.1(ABO):c.[268T>C; 467C>T] BGMUT substitution exon 1 BGMUT_963 AF134412.1(ABO):c.[266C>T; 467C>T] BGMUT substitution exon 1 BGMUT_964 AF134412.1(ABO):c.[297A>G; 410C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_97 AF134412.1(ABO):c.721C>T BGMUT substitution exon 1 BGMUT_98 AF134412.1(ABO):c.965A>G BGMUT substitution exon 1 BGMUT_99 AF134412.1(ABO):c.502C>G BGMUT substitution exon 1 RISN_LRAT:c.505A>T LRAT:c.505A>T RISN substitution exon 1 RISN_LRAT:c.332A>G LRAT:c.332A>G RISN substitution exon 1 RISN_XLRS:c.(?_1)_(184_?)del XLRS:c.(?_1)_(184_?)del RISN deletion not within known transcription unit 0 RISN_XLRS:c.(?_1)_(52_?)del XLRS:c.(?_1)_(52_?)del RISN deletion not within known transcription unit 0 RISN_XLRS:c.1A>G XLRS:c.1A>G RISN substitution exon 1 RISN_XLRS:c.2T>C XLRS:c.2T>C RISN substitution exon 1 RISN_XLRS:c.52+2T>C XLRS:c.52+2T>C RISN substitution intron 1 RISN_XLRS:c.33_36delACTT XLRS:c.33_36delACTT RISN deletion exon 1 RISN_XLRS:c.35T>A XLRS:c.35T>A RISN substitution exon 1 RISN_XLRS:c.38T>C XLRS:c.38T>C RISN substitution exon 1 RISN_XLRS:c.52+1G>A XLRS:c.52+1G>A RISN substitution intron 1 RISN_XLRS:c.52+1_52+2insT XLRS:c.52+1_52+2insT RISN insertion intron 1 RISN_XLRS:c.52+5G>C XLRS:c.52+5G>C RISN substitution intron 1 RISN_XLRS:c.52+1G>T XLRS:c.52+1G>T RISN substitution intron 1 RISN_XLRS:c.53_77del XLRS:c.53_77del RISN deletion exon 1 RISN_XLRS:c.(?_53)_(78_?)del XLRS:c.(?_53)_(78_?)del RISN deletion not within known transcription unit 0 RISN_XLRS:c.68C>A XLRS:c.68C>A RISN substitution exon 1 RISN_XLRS:c.76G>T XLRS:c.76G>T RISN substitution exon 1 RISN_XLRS:c.79-2A>G XLRS:c.79-2A>G RISN substitution intron 1 RISN_XLRS:c.78+1G>A XLRS:c.78+1G>A RISN substitution intron 1 RISN_XLRS:c.79_183del XLRS:c.79_183del RISN deletion exon 1 RISN_XLRS:c.120C>A XLRS:c.120C>A RISN substitution exon 1 RISN_XLRS:c.163delA XLRS:c.163delA RISN deletion exon 1 RISN_XLRS:c.163_164insGCCA XLRS:c.163_164insGCCA RISN insertion exon 1 RISN_XLRS:c.173_205del XLRS:c.173_205del RISN deletion exon 1 RISN_XLRS:c.175T>A XLRS:c.175T>A RISN substitution exon 1 RISN_XLRS:c.181_194del XLRS:c.181_194del RISN deletion exon 1 RISN_XLRS:c.184+1G>C XLRS:c.184+1G>C RISN substitution intron 1 RISN_XLRS:c.185-1G>C XLRS:c.185-1G>C RISN substitution intron 1 RISN_XLRS:c.185_325del XLRS:c.185_325del RISN deletion exon 1 RISN_XLRS:c.185-34_623del XLRS:c.185-34_623del RISN deletion exon 1 RISN_XLRS:c.194A>G XLRS:c.194A>G RISN substitution exon 1 RISN_XLRS:c.194delA XLRS:c.194delA RISN deletion exon 1 RISN_XLRS:c.208G>C XLRS:c.208G>C RISN substitution exon 1 RISN_XLRS:c.209G>A XLRS:c.209G>A RISN substitution exon 1 RISN_XLRS:c.214G>A XLRS:c.214G>A RISN substitution exon 1 RISN_XLRS:c.214G>C XLRS:c.214G>C RISN substitution exon 1 RISN_XLRS:c.216G>C XLRS:c.216G>C RISN substitution exon 1 RISN_XLRS:c.217T>C XLRS:c.217T>C RISN substitution exon 1 RISN_XLRS:c.219delA XLRS:c.219delA RISN deletion exon 1 RISN_XLRS:c.221G>T XLRS:c.221G>T RISN substitution exon 1 RISN_XLRS:c.221_237delins20 XLRS:c.221_237delins20 RISN complex exon 1 RISN_XLRS:c.223G>T XLRS:c.223G>T RISN substitution exon 1 RISN_XLRS:c.242T>A XLRS:c.242T>A RISN substitution exon 1 RISN_XLRS:c.253_255delAAC XLRS:c.253_255delAAC RISN deletion exon 1 RISN_XLRS:c.262C>T XLRS:c.262C>T RISN substitution exon 1 RISN_XLRS:c.266A>G XLRS:c.266A>G RISN substitution exon 1 RISN_XLRS:c.267T>A XLRS:c.267T>A RISN substitution exon 1 RISN_XLRS:c.276G>C XLRS:c.276G>C RISN substitution exon 1 RISN_XLRS:c.286T>C XLRS:c.286T>C RISN substitution exon 1 RISN_XLRS:c.288G>A XLRS:c.288G>A RISN substitution exon 1 RISN_XLRS:c.293C>A XLRS:c.293C>A RISN substitution exon 1 RISN_XLRS:c.301G>C XLRS:c.301G>C RISN substitution exon 1 RISN_XLRS:c.301delG XLRS:c.301delG RISN deletion exon 1 RISN_XLRS:c.304C>T XLRS:c.304C>T RISN substitution exon 1 RISN_XLRS:c.305G>A XLRS:c.305G>A RISN substitution exon 1 RISN_XLRS:c.308T>G XLRS:c.308T>G RISN substitution exon 1 RISN_XLRS:c.312C>G XLRS:c.312C>G RISN substitution exon 1 RISN_XLRS:c.317dupA XLRS:c.317dupA RISN duplication exon 1 RISN_XLRS:c.323T>G XLRS:c.323T>G RISN substitution exon 1 RISN_XLRS:c.325G>T XLRS:c.325G>T RISN substitution exon 1 RISN_XLRS:c.325G>C XLRS:c.325G>C RISN substitution exon 1 RISN_XLRS:c.326G>A XLRS:c.326G>A RISN substitution exon 1 RISN_XLRS:c.326+1G>A XLRS:c.326+1G>A RISN substitution intron 1 RISN_XLRS:c.329G>A XLRS:c.329G>A RISN substitution exon 1 RISN_XLRS:c.330T>C XLRS:c.330T>C RISN substitution exon 1 RISN_XLRS:c.330T>A XLRS:c.330T>A RISN substitution exon 1 RISN_XLRS:c.336G>C XLRS:c.336G>C RISN substitution exon 1 RISN_XLRS:c.336G>T XLRS:c.336G>T RISN substitution exon 1 RISN_XLRS:c.337C>T XLRS:c.337C>T RISN substitution exon 1 RISN_XLRS:c.349_350insT XLRS:c.349_350insT RISN insertion exon 1 RISN_XLRS:c.366G>C XLRS:c.366G>C RISN substitution exon 1 RISN_XLRS:c.375_378delAGAT XLRS:c.375_378delAGAT RISN deletion exon 1 RISN_XLRS:c.380T>C XLRS:c.380T>C RISN substitution exon 1 RISN_XLRS:c.392_393delAA XLRS:c.392_393delAA RISN deletion exon 1 RISN_XLRS:c.397A>T XLRS:c.397A>T RISN substitution exon 1 RISN_XLRS:c.404G>T XLRS:c.404G>T RISN substitution exon 1 RISN_XLRS:c.407T>C XLRS:c.407T>C RISN substitution exon 1 RISN_XLRS:c.412A>G XLRS:c.412A>G RISN substitution exon 1 RISN_XLRS:c.416delA XLRS:c.416delA RISN deletion exon 1 RISN_XLRS:c.418G>A XLRS:c.418G>A RISN substitution exon 1 RISN_XLRS:c.419G>A XLRS:c.419G>A RISN substitution exon 1 RISN_XLRS:c.421C>T XLRS:c.421C>T RISN substitution exon 1 RISN_XLRS:c.421C>G XLRS:c.421C>G RISN substitution exon 1 RISN_XLRS:c.422G>A XLRS:c.422G>A RISN substitution exon 1 RISN_XLRS:c.426T>C XLRS:c.426T>C RISN substitution exon 1 RISN_XLRS:c.426_427delTG XLRS:c.426_427delTG RISN deletion exon 1 RISN_XLRS:c.426T>G XLRS:c.426T>G RISN substitution exon 1 RISN_XLRS:c.428A>T XLRS:c.428A>T RISN substitution exon 1 RISN_XLRS:c.436G>A XLRS:c.436G>A RISN substitution exon 1 RISN_XLRS:c.438G>C XLRS:c.438G>C RISN substitution exon 1 RISN_XLRS:c.460C>T XLRS:c.460C>T RISN substitution exon 1 RISN_XLRS:c.464A>G XLRS:c.464A>G RISN substitution exon 1 RISN_XLRS:c.472G>A XLRS:c.472G>A RISN substitution exon 1 RISN_XLRS:c.489G>A XLRS:c.489G>A RISN substitution exon 1 RISN_XLRS:c.489G>T XLRS:c.489G>T RISN substitution exon 1 RISN_XLRS:c.499A>T XLRS:c.499A>T RISN substitution exon 1 RISN_XLRS:c.501G>C XLRS:c.501G>C RISN substitution exon 1 RISN_XLRS:c.522+5G>A XLRS:c.522+5G>A RISN substitution intron 1 RISN_XLRS:c.522+1G>T XLRS:c.522+1G>T RISN substitution intron 1 RISN_XLRS:c.522+1G>A XLRS:c.522+1G>A RISN substitution intron 1 RISN_XLRS:c.523-2A>G XLRS:c.523-2A>G RISN substitution intron 1 RISN_XLRS:c.533G>A XLRS:c.533G>A RISN substitution exon 1 RISN_XLRS:c.535A>G XLRS:c.535A>G RISN substitution exon 1 RISN_XLRS:c.544C>T XLRS:c.544C>T RISN substitution exon 1 RISN_XLRS:c.548_549insCC XLRS:c.548_549insCC RISN insertion exon 1 RISN_XLRS:c.554C>T XLRS:c.554C>T RISN substitution exon 1 RISN_XLRS:c.574C>T XLRS:c.574C>T RISN substitution exon 1 RISN_XLRS:c.574C>A XLRS:c.574C>A RISN substitution exon 1 RISN_XLRS:c.575C>G XLRS:c.575C>G RISN substitution exon 1 RISN_XLRS:c.576_577insT XLRS:c.576_577insT RISN insertion exon 1 RISN_XLRS:c.577C>T XLRS:c.577C>T RISN substitution exon 1 RISN_XLRS:c.578C>T XLRS:c.578C>T RISN substitution exon 1 RISN_XLRS:c.579dupC XLRS:c.579dupC RISN duplication exon 1 RISN_XLRS:c.589C>T XLRS:c.589C>T RISN substitution exon 1 RISN_XLRS:c.590G>C XLRS:c.590G>C RISN substitution exon 1 RISN_XLRS:c.590G>A XLRS:c.590G>A RISN substitution exon 1 RISN_XLRS:c.596T>C XLRS:c.596T>C RISN substitution exon 1 RISN_XLRS:c.598C>T XLRS:c.598C>T RISN substitution exon 1 RISN_XLRS:c.599G>A XLRS:c.599G>A RISN substitution exon 1 RISN_XLRS:c.606C>T XLRS:c.606C>T RISN substitution exon 1 RISN_XLRS:c.608C>T XLRS:c.608C>T RISN substitution exon 1 RISN_XLRS:c.618G>A XLRS:c.618G>A RISN substitution exon 1 RISN_XLRS:c.621C>G XLRS:c.621C>G RISN substitution exon 1 RISN_XLRS:c.625C>T XLRS:c.625C>T RISN substitution exon 1 RISN_XLRS:c.625C>G XLRS:c.625C>G RISN substitution exon 1 RISN_XLRS:c.626G>A XLRS:c.626G>A RISN substitution exon 1 RISN_XLRS:c.631G>A XLRS:c.631G>A RISN substitution exon 1 RISN_XLRS:c.638G>A XLRS:c.638G>A RISN substitution exon 1 RISN_XLRS:c.637C>T XLRS:c.637C>T RISN substitution exon 1 RISN_XLRS:c.639delG XLRS:c.639delG RISN deletion exon 1 RISN_XLRS:c.643G>A XLRS:c.643G>A RISN substitution exon 1 RISN_XLRS:c.643G>C XLRS:c.643G>C RISN substitution exon 1 RISN_XLRS:c.647T>C XLRS:c.647T>C RISN substitution exon 1 RISN_XLRS:c.655T>C XLRS:c.655T>C RISN substitution exon 1 RISN_XLRS:c.655T>G XLRS:c.655T>G RISN substitution exon 1 RISN_XLRS:c.655delT XLRS:c.655delT RISN deletion exon 1 RISN_XLRS:c.655_679del XLRS:c.655_679del RISN deletion exon 1 RISN_XLRS:c.666G>C XLRS:c.666G>C RISN substitution exon 1 RISN_XLRS:c.675*3C>T XLRS:c.675*3C>T RISN substitution exon 1 RISN_TYR:c.(?_1)_(819_?)del TYR:c.(?_1)_(819_?)del RISN deletion not within known transcription unit 0 RISN_TYR:c.1A>G TYR:c.1A>G RISN substitution exon 1 RISN_TYR:c.2T>C TYR:c.2T>C RISN substitution exon 1 RISN_TYR:c.24delC TYR:c.24delC RISN deletion exon 1 RISN_TYR:c.52delG TYR:c.52delG RISN deletion exon 1 RISN_TYR:c.57T>A TYR:c.57T>A RISN substitution exon 1 RISN_TYR:c.61C>T TYR:c.61C>T RISN substitution exon 1 RISN_TYR:c.107G>A TYR:c.107G>A RISN substitution exon 1 RISN_TYR:c.125A>G TYR:c.125A>G RISN substitution exon 1 RISN_TYR:c.140G>A TYR:c.140G>A RISN substitution exon 1 RISN_TYR:c.149C>G TYR:c.149C>G RISN substitution exon 1 RISN_TYR:c.155G>T TYR:c.155G>T RISN substitution exon 1 RISN_TYR:c.164G>A TYR:c.164G>A RISN substitution exon 1 RISN_TYR:c.222delG TYR:c.222delG RISN deletion exon 1 RISN_TYR:c.229C>T TYR:c.229C>T RISN substitution exon 1 RISN_TYR:c.230G>A TYR:c.230G>A RISN substitution exon 1 RISN_TYR:c.232G>T TYR:c.232G>T RISN substitution exon 1 RISN_TYR:c.231_232insGGG TYR:c.231_232insGGG RISN insertion exon 1 RISN_TYR:c.238T>C TYR:c.238T>C RISN substitution exon 1 RISN_TYR:c.240G>A TYR:c.240G>A RISN substitution exon 1 RISN_TYR:c.242C>T TYR:c.242C>T RISN substitution exon 1 RISN_TYR:c.265T>C TYR:c.265T>C RISN substitution exon 1 RISN_TYR:c.286dupA TYR:c.286dupA RISN duplication exon 1 RISN_TYR:c.289G>A TYR:c.289G>A RISN substitution exon 1 RISN_TYR:c.325G>A TYR:c.325G>A RISN substitution exon 1 RISN_TYR:c.336_337delCA TYR:c.336_337delCA RISN deletion exon 1 RISN_TYR:c.340_341delGA TYR:c.340_341delGA RISN deletion exon 1 RISN_TYR:c.346C>T TYR:c.346C>T RISN substitution exon 1 RISN_TYR:c.456C>T TYR:c.456C>T RISN substitution exon 1 RISN_TYR:c.458_459insT TYR:c.458_459insT RISN insertion exon 1 RISN_TYR:c.526T>A TYR:c.526T>A RISN substitution exon 1 RISN_TYR:c.533G>A TYR:c.533G>A RISN substitution exon 1 RISN_TYR:c.568delG TYR:c.568delG RISN deletion exon 1 RISN_TYR:c.575C>A TYR:c.575C>A RISN substitution exon 1 RISN_TYR:c.613C>A TYR:c.613C>A RISN substitution exon 1 RISN_TYR:c.616G>A TYR:c.616G>A RISN substitution exon 1 RISN_TYR:c.646T>A TYR:c.646T>A RISN substitution exon 1 RISN_TYR:c.649delC TYR:c.649delC RISN deletion exon 1 RISN_TYR:c.649C>G TYR:c.649C>G RISN substitution exon 1 RISN_TYR:c.649C>T TYR:c.649C>T RISN substitution exon 1 RISN_TYR:c.650G>A TYR:c.650G>A RISN substitution exon 1 RISN_TYR:c.678_680delAGG TYR:c.678_680delAGG RISN deletion exon 1 RISN_TYR:c.707G>A TYR:c.707G>A RISN substitution exon 1 RISN_TYR:c.707G>C TYR:c.707G>C RISN substitution exon 1 RISN_TYR:c.730_731delTG TYR:c.730_731delTG RISN deletion exon 1 RISN_TYR:c.757G>A TYR:c.757G>A RISN substitution exon 1 RISN_TYR:c.766C>T TYR:c.766C>T RISN substitution exon 1 RISN_TYR:c.816G>C TYR:c.816G>C RISN substitution exon 1 RISN_TYR:c.820-3C>G TYR:c.820-3C>G RISN substitution exon 1 RISN_TYR:c.823G>T TYR:c.823G>T RISN substitution exon 1 RISN_TYR:c.832C>T TYR:c.832C>T RISN substitution exon 1 RISN_TYR:c.840delG TYR:c.840delG RISN deletion exon 1 RISN_TYR:c.875C>T TYR:c.875C>T RISN substitution exon 1 RISN_TYR:c.891A>G TYR:c.891A>G RISN substitution exon 1 RISN_TYR:c.895C>A TYR:c.895C>A RISN substitution exon 1 RISN_TYR:c.896G>A TYR:c.896G>A RISN substitution exon 1 RISN_TYR:c.926dupC TYR:c.926dupC RISN duplication exon 1 RISN_TYR:c.934C>G TYR:c.934C>G RISN substitution exon 1 RISN_TYR:c.938C>G TYR:c.938C>G RISN substitution exon 1 RISN_TYR:c.973A>G TYR:c.973A>G RISN substitution exon 1 RISN_TYR:c.982G>C TYR:c.982G>C RISN substitution exon 1 RISN_TYR:c.1015A>G TYR:c.1015A>G RISN substitution exon 1 RISN_TYR:c.1018T>C TYR:c.1018T>C RISN substitution exon 1 RISN_TYR:c.1037-7T>A TYR:c.1037-7T>A RISN substitution intron 1 RISN_TYR:c.1037-1G>A TYR:c.1037-1G>A RISN substitution intron 1 RISN_TYR:c.1063G>C TYR:c.1063G>C RISN substitution exon 1 RISN_TYR:c.1075C>T TYR:c.1075C>T RISN substitution exon 1 RISN_TYR:c.1081A>C TYR:c.1081A>C RISN substitution exon 1 RISN_TYR:c.1100A>G TYR:c.1100A>G RISN substitution exon 1 RISN_TYR:c.1109T>C TYR:c.1109T>C RISN substitution exon 1 RISN_TYR:c.1111A>T TYR:c.1111A>T RISN substitution exon 1 RISN_TYR:c.1112A>C TYR:c.1112A>C RISN substitution exon 1 RISN_TYR:c.1118C>A TYR:c.1118C>A RISN substitution exon 1 RISN_TYR:c.1126C>T TYR:c.1126C>T RISN substitution exon 1 RISN_TYR:c.1132C>T TYR:c.1132C>T RISN substitution exon 1 RISN_TYR:c.1138T>C TYR:c.1138T>C RISN substitution exon 1 RISN_TYR:c.1146C>A TYR:c.1146C>A RISN substitution exon 1 RISN_TYR:c.1147G>A TYR:c.1147G>A RISN substitution exon 1 RISN_TYR:c.1160delT TYR:c.1160delT RISN deletion exon 1 RISN_TYR:c.1163delT TYR:c.1163delT RISN deletion exon 1 RISN_TYR:c.1168C>G TYR:c.1168C>G RISN substitution exon 1 RISN_TYR:c.1183A>G TYR:c.1183A>G RISN substitution exon 1 RISN_TYR:c.1199G>T TYR:c.1199G>T RISN substitution exon 1 RISN_TYR:c.1204C>T TYR:c.1204C>T RISN substitution exon 1 RISN_TYR:c.1205G>A TYR:c.1205G>A RISN substitution exon 1 RISN_TYR:c.1209G>T TYR:c.1209G>T RISN substitution exon 1 RISN_TYR:c.1211A>C TYR:c.1211A>C RISN substitution exon 1 RISN_TYR:c.1217C>T TYR:c.1217C>T RISN substitution exon 1 RISN_TYR:c.1255G>A TYR:c.1255G>A RISN substitution exon 1 RISN_TYR:c.1265G>A TYR:c.1265G>A RISN substitution exon 1 RISN_TYR:c.1292C>T TYR:c.1292C>T RISN substitution exon 1 RISN_TYR:c.1314_1317delCTTT TYR:c.1314_1317delCTTT RISN deletion exon 1 RISN_TYR:c.1315T>G TYR:c.1315T>G RISN substitution exon 1 RISN_TYR:c.1336G>A TYR:c.1336G>A RISN substitution exon 1 RISN_TYR:c.1342G>A TYR:c.1342G>A RISN substitution exon 1 RISN_TYR:c.1357C>T TYR:c.1357C>T RISN substitution exon 1 RISN_TYR:c.1366+5A>G TYR:c.1366+5A>G RISN substitution intron 1 RISN_TYR:c.1366+4A>G TYR:c.1366+4A>G RISN substitution intron 1 RISN_TYR:c.1467dupT TYR:c.1467dupT RISN duplication exon 1 RISN_TYR:c.1501dupC TYR:c.1501dupC RISN duplication exon 1 RISN_TYR:c.-301C>T TYR:c.-301C>T RISN substitution 5' UTR 1 RISN_TYR:c.-199C>A TYR:c.-199C>A RISN substitution 5' UTR 1 RISN_TYR:c.-658delC TYR:c.-658delC#insertion in reference# RISN deletion 5' UTR 1 RISN_TYR:c.-683_-682insG TYR:c.-683_-682insG RISN insertion 5' UTR 1 RISN_TYR:c.-692_-691insC TYR:c.-692_-691insC RISN insertion 5' UTR 1 RISN_TYR:c.-802_-801insGAGAGGGAGA TYR:c.-802_-801insGAGAGGGAGA RISN insertion 5' UTR 1 RISN_RDS:c.2T>C RDS:c.2T>C RISN substitution exon 1 RISN_RDS:c.37C>T RDS:c.37C>T RISN substitution exon 1 RISN_RDS:c.37C>A RDS:c.37C>A RISN substitution exon 1 RISN_RDS:c.73_74delTG RDS:c.73_74delTG RISN deletion exon 1 RISN_RDS:c.80C>T RDS:c.80C>T RISN substitution exon 1 RISN_RDS:c.94A>G RDS:c.94A>G RISN substitution exon 1 RISN_RDS:c.96_97insC RDS:c.96_97insC RISN insertion exon 1 RISN_RDS:c.113delG RDS:c.113delG RISN deletion exon 1 RISN_RDS:c.133C>T RDS:c.133C>T RISN substitution exon 1 RISN_RDS:c.136C>T RDS:c.136C>T RISN substitution exon 1 RISN_RDS:c.198_202delinsAAGACAGA RDS:c.198_202delinsAAGACAGA RISN complex exon 1 RISN_RDS:c.199_201delATG RDS:c.199_201delATG RISN deletion exon 1 RISN_RDS:c.202G>A RDS:c.202G>A RISN substitution exon 1 RISN_RDS:c.249C>T RDS:c.249C>T RISN substitution exon 1 RISN_RDS:c.303C>T RDS:c.303C>T RISN substitution exon 1 RISN_RDS:c.318C>T RDS:c.318C>T RISN substitution exon 1 RISN_RDS:c.355_357delTGC RDS:c.355_357delTGC RISN deletion exon 1 RISN_RDS:c.371delG RDS:c.371delG RISN deletion exon 1 RISN_RDS:c.376C>G RDS:c.376C>G RISN substitution exon 1 RISN_RDS:c.421T>C RDS:c.421T>C RISN substitution exon 1 RISN_RDS:c.422A>G RDS:c.422A>G RISN substitution exon 1 RISN_RDS:c.423_424insTACT RDS:c.423_424insTACT RISN insertion exon 1 RISN_RDS:c.424C>T RDS:c.424C>T RISN substitution exon 1 RISN_RDS:c.441delT RDS:c.441delT RISN deletion exon 1 RISN_RDS:c.458A>G RDS:c.458A>G RISN substitution exon 1 RISN_RDS:c.460_462delAAG RDS:c.460_462delAAG RISN deletion exon 1 RISN_RDS:c.469G>A RDS:c.469G>A RISN substitution exon 1 RISN_RDS:c.494G>A RDS:c.494G>A RISN substitution exon 1 RISN_RDS:c.500G>A RDS:c.500G>A RISN substitution exon 1 RISN_RDS:c.505_507delAAC RDS:c.505_507delAAC RISN deletion exon 1 RISN_RDS:c.508G>A RDS:c.508G>A RISN substitution exon 1 RISN_RDS:c.514C>G RDS:c.514C>G RISN substitution exon 1 RISN_RDS:c.514C>T RDS:c.514C>T RISN substitution exon 1 RISN_RDS:c.515G>A RDS:c.515G>A RISN substitution exon 1 RISN_RDS:c.518A>T RDS:c.518A>T RISN substitution exon 1 RISN_RDS:c.533A>G RDS:c.533A>G RISN substitution exon 1 RISN_RDS:c.535T>C RDS:c.535T>C RISN substitution exon 1 RISN_RDS:c.551A>C RDS:c.551A>C RISN substitution exon 1 RISN_RDS:c.554T>C RDS:c.554T>C RISN substitution exon 1 RISN_RDS:c.577_579delAAA RDS:c.577_579delAAA RISN deletion exon 1 RISN_RDS:c.578_579delAA RDS:c.578_579delAA RISN deletion exon 1 RISN_RDS:c.(?_582)_(1038_?)del RDS:c.(?_582)_(1038_?)del RISN deletion not within known transcription unit 0 RISN_RDS:c.584G>T RDS:c.584G>T RISN substitution exon 1 RISN_RDS:c.589A>G RDS:c.589A>G RISN substitution exon 1 RISN_RDS:c.599T>A RDS:c.599T>A RISN substitution exon 1 RISN_RDS:c.609_625del RDS:c.609_625del RISN deletion exon 1 RISN_RDS:c.616_627delGTGGACGGCGTC RDS:c.616_627delGTGGACGGCGTC RISN deletion exon 1 RISN_RDS:c.623_624insG RDS:c.623_624insG RISN insertion exon 1 RISN_RDS:c.628C>T RDS:c.628C>T RISN substitution exon 1 RISN_RDS:c.629C>G RDS:c.629C>G RISN substitution exon 1 RISN_RDS:c.629C>T RDS:c.629C>T RISN substitution exon 1 RISN_RDS:c.633C>A RDS:c.633C>A RISN substitution exon 1 RISN_RDS:c.634A>G RDS:c.634A>G RISN substitution exon 1 RISN_RDS:c.635G>C RDS:c.635G>C RISN substitution exon 1 RISN_RDS:c.637T>C RDS:c.637T>C RISN substitution exon 1 RISN_RDS:c.638G>A RDS:c.638G>A RISN substitution exon 1 RISN_RDS:c.641G>C RDS:c.641G>C RISN substitution exon 1 RISN_RDS:c.641G>A RDS:c.641G>A RISN substitution exon 1 RISN_RDS:c.646C>T RDS:c.646C>T RISN substitution exon 1 RISN_RDS:c.647C>T RDS:c.647C>T RISN substitution exon 1 RISN_RDS:c.656_658delCAC RDS:c.656_658delCAC RISN deletion exon 1 RISN_RDS:c.656C>G RDS:c.656C>G RISN substitution exon 1 RISN_RDS:c.658C>T RDS:c.658C>T RISN substitution exon 1 RISN_RDS:c.659G>A RDS:c.659G>A RISN substitution exon 1 RISN_RDS:c.672_673ins37 RDS:c.672_673ins37 RISN insertion exon 1 RISN_RDS:c.676C>G RDS:c.676C>G RISN substitution exon 1 RISN_RDS:c.700_701insT RDS:c.700_701insT RISN insertion exon 1 RISN_RDS:c.708C>T RDS:c.708C>T RISN substitution exon 1 RISN_RDS:c.715C>T RDS:c.715C>T RISN substitution exon 1 RISN_RDS:c.730A>C RDS:c.730A>C RISN substitution exon 1 RISN_RDS:c.732C>G RDS:c.732C>G RISN substitution exon 1 RISN_RDS:c.732C>A RDS:c.732C>A RISN substitution exon 1 RISN_RDS:c.736T>C RDS:c.736T>C RISN substitution exon 1 RISN_RDS:c.773A>C RDS:c.773A>C RISN substitution exon 1 RISN_RDS:c.797G>A RDS:c.797G>A RISN substitution exon 1 RISN_RDS:c.802G>A RDS:c.802G>A RISN substitution exon 1 RISN_RDS:c.824_825delTC RDS:c.824_825delTC RISN deletion exon 1 RISN_RDS:c.828+21_828+22ins7 RDS:c.828+21_828+22ins7 RISN insertion intron 1 RISN_RDS:c.828+3A>T RDS:c.828+3A>T RISN substitution intron 1 RISN_RDS:c.855C>A RDS:c.855C>A RISN substitution exon 1 RISN_RDS:c.866C>T RDS:c.866C>T RISN substitution exon 1 RISN_RDS:c.897_898delTG RDS:c.897_898delTG RISN deletion exon 1 RISN_RDS:c.904G>T RDS:c.904G>T RISN substitution exon 1 RISN_RDS:c.910G>C RDS:c.910G>C RISN substitution exon 1 RISN_RDS:c.914_922del RDS:c.914_922del RISN deletion exon 1 RISN_RDS:c.914G>A RDS:c.914G>A RISN substitution exon 1 RISN_RDS:c.920delT RDS:c.920delT RISN deletion exon 1 RISN_RDS:c.929A>G RDS:c.929A>G RISN substitution exon 1 RISN_RDS:c.938C>T RDS:c.938C>T RISN substitution exon 1 RISN_RDS:c.947G>A RDS:c.947G>A RISN substitution exon 1 RISN_RDS:c.991C>T RDS:c.991C>T RISN substitution exon 1 RISN_RDS:c.1013G>A RDS:c.1013G>A RISN substitution exon 1 RISN_RDS:c.1038*148A>G RDS:c.1038*148A>G RISN substitution 3' UTR 1 RISN_RDS:c.1038*549A>G RDS:c.1038*549A>G RISN substitution 3' UTR 1 RISN_RDS:c.1038*768T>C RDS:c.1038*768T>C RISN substitution 3' UTR 1 RISN_RDS:c.1891_1894del RDS:c.1891_1894del RISN deletion 3' UTR 1 RISN_RDS:c.1038*904A>C RDS:c.1038*904A>C RISN substitution 3' UTR 1 RISN_RDS:c.1038*1007A>C RDS:c.1038*1007A>C RISN substitution 3' UTR 1 RISN_RDS:c.1038*1363T>C RDS:c.1038*1363T>C RISN substitution 3' UTR 1 RISN_RDS:c.1038*1381T>C RDS:c.1038*1381T>C RISN substitution 3' UTR 1 RISN_CRX:c.21dupG CRX:c.21dupG RISN duplication exon 1 RISN_CRX:c.100+12C>T CRX:c.100+12C>T RISN substitution intron 1 RISN_CRX:c.100+2T>C CRX:c.100+2T>C RISN substitution intron 1 RISN_CRX:c.101-13C>G CRX:c.101-13C>G RISN substitution intron 1 RISN_CRX:c.101-65A>T CRX:c.101-65A>T RISN substitution intron 1 RISN_CRX:c.121C>T CRX:c.121C>T RISN substitution exon 1 RISN_CRX:c.122G>A CRX:c.122G>A RISN substitution exon 1 RISN_CRX:c.166G>A CRX:c.166G>A RISN substitution exon 1 RISN_CRX:c.196G>A CRX:c.196G>A RISN substitution exon 1 RISN_CRX:c.238G>A CRX:c.238G>A RISN substitution exon 1 RISN_CRX:c.239A>C CRX:c.239A>C RISN substitution exon 1 RISN_CRX:c.253-15G>A CRX:c.253-15G>A RISN substitution intron 1 RISN_CRX:c.253-18T>A CRX:c.253-18T>A RISN substitution intron 1 RISN_CRX:p.Arg90Trp CRX:p.Arg90Trp RISN substitution exon 1 RISN_CRX:c.335C>T CRX:c.335C>T RISN substitution exon 1 RISN_CRX:c.351dupC CRX:c.351dupC RISN duplication exon 1 RISN_CRX:c.365G>A CRX:c.365G>A RISN substitution exon 1 RISN_CRX:c.425A>G CRX:c.425A>G RISN substitution exon 1 RISN_CRX:c.436_447del CRX:c.436_447del RISN deletion exon 1 RISN_CRX:c.444dupC CRX:c.444dupC RISN duplication exon 1 RISN_CRX:c.472G>A CRX:c.472G>A RISN substitution exon 1 RISN_CRX:c.501_502delAG CRX:c.501_502delAG RISN deletion exon 1 RISN_CRX:c.505delT CRX:c.505delT RISN deletion exon 1 RISN_CRX:c.519delG CRX:c.519delG RISN deletion exon 1 RISN_CRX:c.529delG CRX:c.529delG RISN deletion exon 1 RISN_CRX:c.541delG CRX:c.541delG RISN deletion exon 1 RISN_CRX:c.549G>A CRX:c.549G>A RISN substitution exon 1 RISN_CRX:c.571delT CRX:c.571delT RISN deletion exon 1 RISN_CRX:c.585dupC CRX:c.585dupC RISN duplication exon 1 RISN_CRX:c.587_590delCCCC CRX:c.587_590delCCCC RISN deletion exon 1 RISN_CRX:c.597C>T CRX:c.597C>T RISN substitution exon 1 RISN_CRX:c.613delC CRX:c.613delC RISN deletion exon 1 RISN_CRX:c.649delG CRX:c.649delG RISN deletion exon 1 RISN_CRX:c.705delC CRX:c.705delC RISN deletion exon 1 RISN_CRX:c.724G>A CRX:c.724G>A RISN substitution exon 1 RISN_CRX:c.bp_720dup CRX:c.bp_720dup RISN duplication exon 1 RISN_CRX:c.753delC CRX:c.753delC RISN deletion exon 1 RISN_CRX:c.786delC CRX:c.786delC RISN deletion exon 1 RISN_CRX:c.818C>T CRX:c.818C>T RISN substitution exon 1 RISN_GC1:c.2T>A GC1:c.2T>A RISN substitution exon 1 RISN_GC1:c.3G>A GC1:c.3G>A RISN substitution exon 1 RISN_GC1:c.3G>C GC1:c.3G>C RISN substitution exon 1 RISN_GC1:c.52_99dup GC1:c.52_99dup RISN duplication exon 1 RISN_GC1:c.61T>C GC1:c.61T>C RISN substitution exon 1 RISN_GC1:c.87dupC GC1:c.87dupC RISN duplication exon 1 RISN_GC1:c.121C>T GC1:c.121C>T RISN substitution exon 1 RISN_GC1:c.154G>T GC1:c.154G>T RISN substitution exon 1 RISN_GC1:c.226_239del GC1:c.226_239del RISN deletion exon 1 RISN_GC1:c.289G>C GC1:c.289G>C RISN substitution exon 1 RISN_GC1:c.307G>A GC1:c.307G>A RISN substitution exon 1 RISN_GC1:c.314G>A GC1:c.314G>A RISN substitution exon 1 RISN_GC1:c.387delC GC1:c.387delC RISN deletion exon 1 RISN_GC1:c.387C>A GC1:c.387C>A RISN substitution exon 1 RISN_GC1:c.620delC GC1:c.620delC RISN deletion exon 1 RISN_GC1:c.779T>C GC1:c.779T>C RISN substitution exon 1 RISN_GC1:c.935C>T GC1:c.935C>T RISN substitution exon 1 RISN_GC1:c.937C>T GC1:c.937C>T RISN substitution exon 1 RISN_GC1:c.974T>C GC1:c.974T>C RISN substitution exon 1 RISN_GC1:c.1052A>G GC1:c.1052A>G RISN substitution exon 1 RISN_GC1:c.1084G>T GC1:c.1084G>T RISN substitution exon 1 RISN_GC1:c.1236C>T GC1:c.1236C>T RISN substitution exon 1 RISN_GC1:c.1343C>A GC1:c.1343C>A RISN substitution exon 1 RISN_GC1:c.1379-28A>G GC1:c.1379-28A>G RISN substitution intron 1 RISN_GC1:c.1424_1431dup GC1:c.1424_1431dup RISN duplication exon 1 RISN_GC1:c.1537C>T GC1:c.1537C>T RISN substitution exon 1 RISN_GC1:c.1566+2T>C GC1:c.1566+2T>C RISN substitution intron 1 RISN_GC1:c.1615A>G GC1:c.1615A>G RISN substitution exon 1 RISN_GC1:c.1618C>T GC1:c.1618C>T RISN substitution exon 1 RISN_GC1:c.1694T>C GC1:c.1694T>C RISN substitution exon 1 RISN_GC1:c.1717A>G GC1:c.1717A>G RISN substitution exon 1 RISN_GC1:c.1724C>T GC1:c.1724C>T RISN substitution exon 1 RISN_GC1:c.1806_1830del GC1:c.1806_1830del RISN deletion exon 1 RISN_GC1:c.1956+2T>A GC1:c.1956+2T>A RISN substitution intron 1 RISN_GC1:c.1957-1G>T GC1:c.1957-1G>T RISN substitution intron 1 RISN_GC1:c.1957-1G>A GC1:c.1957-1G>A RISN substitution intron 1 RISN_GC1:c.1957G>A GC1:c.1957G>A RISN substitution exon 1 RISN_GC1:c.1978C>T GC1:c.1978C>T RISN substitution exon 1 RISN_GC1:c.1979G>A GC1:c.1979G>A RISN substitution exon 1 RISN_GC1:c.2078_2085del GC1:c.2078_2085del RISN deletion exon 1 RISN_GC1:c.2080C>A GC1:c.2080C>A RISN substitution exon 1 RISN_GC1:c.2101C>T GC1:c.2101C>T RISN substitution exon 1 RISN_GC1:c.2109G>A GC1:c.2109G>A RISN substitution exon 1 RISN_GC1:c.2237A>G GC1:c.2237A>G RISN substitution exon 1 RISN_GC1:c.2248G>T GC1:c.2248G>T RISN substitution exon 1 RISN_GC1:c.2302C>T GC1:c.2302C>T RISN substitution exon 1 RISN_GC1:c.2317A>C GC1:c.2317A>C RISN substitution exon 1 RISN_GC1:c.2346C>A GC1:c.2346C>A RISN substitution exon 1 RISN_GC1:c.2384G>T GC1:c.2384G>T RISN substitution exon 1 RISN_GC1:c.2511G>C GC1:c.2511G>C RISN substitution exon 1 RISN_GC1:c.2512C>T GC1:c.2512C>T RISN substitution exon 1 RISN_GC1:c.2512C>A GC1:c.2512C>A RISN substitution exon 1 RISN_GC1:c.2513G>A GC1:c.2513G>A RISN substitution exon 1 RISN_GC1:c.2516C>T GC1:c.2516C>T RISN substitution exon 1 RISN_GC1:c.2566A>G GC1:c.2566A>G RISN substitution exon 1 RISN_GC1:c.2572C>T GC1:c.2572C>T RISN substitution exon 1 RISN_GC1:c.2576+37G>T GC1:c.2576+37G>T RISN substitution intron 1 RISN_GC1:c.2745C>T GC1:c.2745C>T RISN substitution exon 1 RISN_GC1:c.2749G>C GC1:c.2749G>C RISN substitution exon 1 RISN_GC1:c.2800G>C GC1:c.2800G>C RISN substitution exon 1 RISN_GC1:c.2837C>T GC1:c.2837C>T RISN substitution exon 1 RISN_GC1:c.2849C>T GC1:c.2849C>T RISN substitution exon 1 RISN_GC1:c.2861T>C GC1:c.2861T>C RISN substitution exon 1 RISN_GC1:c.2899delC GC1:c.2899delC RISN deletion exon 1 RISN_GC1:c.2927G>T GC1:c.2927G>T RISN substitution exon 1 RISN_GC1:c.2943delG GC1:c.2943delG RISN deletion exon 1 RISN_GC1:c.2951G>A GC1:c.2951G>A RISN substitution exon 1 RISN_GC1:c.2983C>T GC1:c.2983C>T RISN substitution exon 1 RISN_GC1:c.3025A>T GC1:c.3025A>T RISN substitution exon 1 RISN_GC1:c.3043+4A>T GC1:c.3043+4A>T RISN substitution intron 1 RISN_GC1:c.3055C>A GC1:c.3055C>A RISN substitution exon 1 RISN_GC1:c.3055_3064delins4 GC1:c.3055_3064delins4 RISN complex exon 1 RISN_GC1:c.3078_3079delGA GC1:c.3078_3079delGA RISN deletion exon 1 RISN_GC1:c.3106C>T GC1:c.3106C>T RISN substitution exon 1 RISN_GC1:c.3108G>T GC1:c.3108G>T RISN substitution exon 1 RISN_GC1:c.3118C>G GC1:c.3118C>G RISN substitution exon 1 RISN_GC1:c.3118C>T GC1:c.3118C>T RISN substitution exon 1 RISN_GC1:c.3138+34G>T GC1:c.3138+34G>T RISN substitution exon 1 RISN_GC1:c.3181G>A GC1:c.3181G>A RISN substitution exon 1 RISN_GC1:c.3205delC GC1:c.3205delC RISN deletion exon 1 RISN_GC1:c.3235_3236insACCA GC1:c.3235_3236insACCA RISN insertion exon 1 RISN_GC1:c.3282G>T GC1:c.3282G>T RISN substitution exon 1 RISN_GC1:c.1026+171delG GC1:c.1026+171delG RISN deletion intron 1 RISN_GC1:c.341T>C GC1:c.341T>C RISN substitution exon 1 RISN_GC1:c.577C>T GC1:c.577C>T RISN substitution exon 1 RISN_ABCR:c.634C>T ABCR:c.634C>T RISN substitution exon 1 RISN_ABCR:c.769-5T>G ABCR:c.769-5T>G RISN substitution intron 1 RISN_ABCR:c.1411G>A ABCR:c.1411G>A RISN substitution exon 1 RISN_ABCR:c.2453G>A ABCR:c.2453G>A RISN substitution exon 1 RISN_ABCR:c.2588G>C ABCR:c.2588G>C RISN substitution exon 1 RISN_ABCR:c.2884delC ABCR:c.2884delC RISN deletion exon 1 RISN_ABCR:c.3113C>T ABCR:c.3113C>T RISN substitution exon 1 RISN_ABCR:c.3386G>T ABCR:c.3386G>T RISN substitution exon 1 RISN_ABCR:c.4283C>T ABCR:c.4283C>T RISN substitution exon 1 RISN_ABCR:c.4297G>A ABCR:c.4297G>A RISN substitution exon 1 RISN_ABCR:c.4549C>A ABCR:c.4549C>A RISN substitution exon 1 RISN_ABCR:c.4685T>C ABCR:c.4685T>C RISN substitution exon 1 RISN_ABCR:c.4714A>T ABCR:c.4714A>T RISN substitution exon 1 RISN_ABCR:c.4732G>A ABCR:c.4732G>A RISN substitution exon 1 RISN_ABCR:c.4773+1G>T ABCR:c.4773+1G>T RISN substitution intron 1 RISN_ABCR:c.5196+1G>A ABCR:c.5196+1G>A RISN substitution exon 1 RISN_ABCR:c.5693G>A ABCR:c.5693G>A RISN substitution exon 1 RISN_ABCR:c.5882G>A ABCR:c.5882G>A RISN substitution exon 1 RISN_ABCR:c.5908C>T ABCR:c.5908C>T RISN substitution exon 1 RISN_ABCR:c.6148G>C ABCR:c.6148G>C RISN substitution exon 1 RISN_ABCR:c.6498C>G ABCR:c.6498C>G RISN substitution exon 1 RISN_ABCR:c.6519_6529del ABCR:c.6519_6529del RISN deletion exon 1 RISN_ABCR:c.6529G>A ABCR:c.6529G>A RISN substitution exon 1 RISN_ABCR:c.6568delC ABCR:c.6568delC RISN deletion exon 1 RISN_ABCR:c.2585C>T ABCR:c.2585C>T RISN substitution exon 1 RISN_ABCR:c.6088C>T ABCR:c.6088C>T RISN substitution exon 1 RISN_ABCR:c.6449G>A ABCR:c.6449G>A RISN substitution exon 1 RISN_ABCR:c.1760+2T>G ABCR:c.1760+2T>G RISN substitution intron 1 RISN_ABCR:c.1847delA ABCR:c.1847delA RISN deletion exon 1 RISN_ABCR:c.2827C>G ABCR:c.2827C>G RISN substitution exon 1 RISN_ABCR:c.3523-28T>C ABCR:c.3523-28T>C RISN substitution intron 1 RISN_ABCR:c.4539+1G>T ABCR:c.4539+1G>T RISN substitution intron 1 RISN_ABCR:c.4773+48C>T ABCR:c.4773+48C>T#insertion in reference# RISN substitution intron 1 RISN_ABCR:c.5585-70T>C ABCR:c.5585-70T>C RISN substitution intron 1 RISN_ABCR:c.5888delG ABCR:c.5888delG RISN deletion exon 1 RISN_ABCR:c.5917delG ABCR:c.5917delG RISN deletion exon 1 RISN_ABCR:c.52C>T ABCR:c.52C>T RISN substitution exon 1 RISN_ABCR:c.70C>T ABCR:c.70C>T RISN substitution exon 1 RISN_ABCR:c.194G>A ABCR:c.194G>A RISN substitution exon 1 RISN_ABCR:c.249_250insCAAA ABCR:c.249_250insCAAA RISN insertion exon 1 RISN_ABCR:c.481G>A ABCR:c.481G>A RISN substitution exon 1 RISN_ABCR:c.768G>T ABCR:c.768G>T RISN substitution exon 1 RISN_ABCR:c.1066A>T ABCR:c.1066A>T RISN substitution exon 1 RISN_ABCR:c.1622T>C ABCR:c.1622T>C RISN substitution exon 1 RISN_ABCR:c.1789C>T ABCR:c.1789C>T RISN substitution exon 1 RISN_ABCR:c.1853G>A ABCR:c.1853G>A RISN substitution exon 1 RISN_ABCR:c.2300T>A ABCR:c.2300T>A RISN substitution exon 1 RISN_ABCR:c.2588-12C>G ABCR:c.2588-12C>G RISN substitution intron 1 RISN_ABCR:c.3085C>T ABCR:c.3085C>T RISN substitution exon 1 RISN_ABCR:c.3259G>A ABCR:c.3259G>A RISN substitution exon 1 RISN_ABCR:c.3364G>A ABCR:c.3364G>A RISN substitution exon 1 RISN_ABCR:c.3862+1G>A ABCR:c.3862+1G>A RISN substitution intron 1 RISN_ABCR:c.4035_4036dupCA ABCR:c.4035_4036dupCA RISN duplication exon 1 RISN_ABCR:c.4469G>A ABCR:c.4469G>A RISN substitution exon 1 RISN_ABCR:c.4537_4538insC ABCR:c.4537_4538insC RISN insertion exon 1 RISN_ABCR:c.4919G>A ABCR:c.4919G>A RISN substitution exon 1 RISN_ABCR:c.4918C>T ABCR:c.4918C>T RISN substitution exon 1 RISN_ABCR:c.5196+2T>C ABCR:c.5196+2T>C RISN substitution intron 1 RISN_ABCR:c.5381C>A ABCR:c.5381C>A RISN substitution exon 1 RISN_ABCR:c.5461-10T>C ABCR:c.5461-10T>C RISN substitution intron 1 RISN_ABCR:c.5714+5G>A ABCR:c.5714+5G>A RISN substitution intron 1 RISN_ABCR:c.6079C>T ABCR:c.6079C>T RISN substitution exon 1 RISN_ABCR:c.6601_6602delAG ABCR:c.6601_6602delAG RISN deletion exon 1 RISN_ABCR:c.32T>C ABCR:c.32T>C RISN substitution exon 1 RISN_ABCR:c.122G>A ABCR:c.122G>A RISN substitution exon 1 RISN_ABCR:c.161G>T ABCR:c.161G>T RISN substitution exon 1 RISN_ABCR:c.178G>A ABCR:c.178G>A RISN substitution exon 1 RISN_ABCR:c.203C>T ABCR:c.203C>T RISN substitution exon 1 RISN_ABCR:c.214G>A ABCR:c.214G>A RISN substitution exon 1 RISN_ABCR:c.296dupA ABCR:c.296dupA RISN duplication exon 1 RISN_ABCR:c.302+1G>A ABCR:c.302+1G>A RISN substitution intron 1 RISN_ABCR:c.666_678del ABCR:c.666_678del RISN deletion exon 1 RISN_ABCR:c.667_678del ABCR:c.667_678del RISN deletion exon 1 RISN_ABCR:c.667_680del ABCR:c.667_680del RISN deletion exon 1 RISN_ABCR:c.671delC ABCR:c.671delC RISN deletion exon 1 RISN_ABCR:c.730_731delCT ABCR:c.730_731delCT RISN deletion exon 1 RISN_ABCR:c.740A>T ABCR:c.740A>T RISN substitution exon 1 RISN_ABCR:c.740A>G ABCR:c.740A>G RISN substitution exon 1 RISN_ABCR:c.763C>G ABCR:c.763C>G RISN substitution exon 1 RISN_ABCR:c.982G>T ABCR:c.982G>T RISN substitution exon 1 RISN_ABCR:c.983A>T ABCR:c.983A>T RISN substitution exon 1 RISN_ABCR:c.1015T>G ABCR:c.1015T>G RISN substitution exon 1 RISN_ABCR:c.1025_1038del ABCR:c.1025_1038del RISN deletion exon 1 RISN_ABCR:c.1036A>T ABCR:c.1036A>T RISN substitution exon 1 RISN_ABCR:c.1037A>C ABCR:c.1037A>C RISN substitution exon 1 RISN_ABCR:c.1086T>G ABCR:c.1086T>G RISN substitution exon 1 RISN_ABCR:c.1268A>C ABCR:c.1268A>C RISN substitution exon 1 RISN_ABCR:c.1317G>A ABCR:c.1317G>A RISN substitution exon 1 RISN_ABCR:c.1325T>C ABCR:c.1325T>C RISN substitution exon 1 RISN_ABCR:c.1506_1514del ABCR:c.1506_1514del RISN deletion exon 1 RISN_ABCR:c.1554+1G>A ABCR:c.1554+1G>A RISN substitution intron 1 RISN_ABCR:c.1555-1G>A ABCR:c.1555-1G>A RISN substitution intron 1 RISN_ABCR:c.1610G>A ABCR:c.1610G>A RISN substitution exon 1 RISN_ABCR:c.1659C>G ABCR:c.1659C>G RISN substitution exon 1 RISN_ABCR:c.1798G>T ABCR:c.1798G>T RISN substitution exon 1 RISN_ABCR:c.1822T>C ABCR:c.1822T>C RISN substitution exon 1 RISN_ABCR:c.1823T>A ABCR:c.1823T>A RISN substitution exon 1 RISN_ABCR:c.1903C>A ABCR:c.1903C>A RISN substitution exon 1 RISN_ABCR:c.1908G>T ABCR:c.1908G>T RISN substitution exon 1 RISN_ABCR:c.1917C>T ABCR:c.1917C>T RISN substitution exon 1 RISN_ABCR:c.1937+1G>A ABCR:c.1937+1G>A RISN substitution intron 1 RISN_ABCR:c.2057T>C ABCR:c.2057T>C RISN substitution exon 1 RISN_ABCR:c.2292delT ABCR:c.2292delT RISN deletion exon 1 RISN_ABCR:c.2295T>G ABCR:c.2295T>G RISN substitution exon 1 RISN_ABCR:c.2409_2410delAT ABCR:c.2409_2410delAT RISN deletion exon 1 RISN_ABCR:c.2564G>A ABCR:c.2564G>A RISN substitution exon 1 RISN_ABCR:c.2570delT ABCR:c.2570delT RISN deletion exon 1 RISN_ABCR:c.2616_2617delCT ABCR:c.2616_2617delCT RISN deletion exon 1 RISN_ABCR:c.2703A>T ABCR:c.2703A>T RISN substitution exon 1 RISN_ABCR:c.2826delC ABCR:c.2826delC RISN deletion exon 1 RISN_ABCR:c.2876C>T ABCR:c.2876C>T RISN substitution exon 1 RISN_ABCR:c.2886delG ABCR:c.2886delG RISN deletion exon 1 RISN_ABCR:c.2948C>T ABCR:c.2948C>T RISN substitution exon 1 RISN_ABCR:c.2971G>C ABCR:c.2971G>C RISN substitution exon 1 RISN_ABCR:c.3163C>T ABCR:c.3163C>T RISN substitution exon 1 RISN_ABCR:c.3187T>C ABCR:c.3187T>C RISN substitution exon 1 RISN_ABCR:c.3190+1G>T ABCR:c.3190+1G>T RISN substitution intron 1 RISN_ABCR:c.3191-2A>G ABCR:c.3191-2A>G RISN substitution intron 1 RISN_ABCR:c.3261A>C ABCR:c.3261A>C RISN substitution exon 1 RISN_ABCR:c.3272G>A ABCR:c.3272G>A RISN substitution exon 1 RISN_ABCR:c.3278A>G ABCR:c.3278A>G RISN substitution exon 1 RISN_ABCR:c.3303G>A ABCR:c.3303G>A RISN substitution exon 1 RISN_ABCR:c.3323G>T ABCR:c.3323G>T RISN substitution exon 1 RISN_ABCR:c.3438delC ABCR:c.3438delC RISN deletion exon 1 RISN_ABCR:c.3527_3528insTGCA ABCR:c.3527_3528insTGCA RISN insertion exon 1 RISN_ABCR:c.3607+1G>A ABCR:c.3607+1G>A RISN substitution intron 1 RISN_ABCR:c.3703A>G ABCR:c.3703A>G RISN substitution exon 1 RISN_ABCR:c.3754G>T ABCR:c.3754G>T RISN substitution exon 1 RISN_ABCR:c.3758C>T ABCR:c.3758C>T RISN substitution exon 1 RISN_ABCR:c.3808G>T ABCR:c.3808G>T RISN substitution exon 1 RISN_ABCR:c.3815dupT ABCR:c.3815dupT RISN duplication exon 1 RISN_ABCR:c.3874C>T ABCR:c.3874C>T RISN substitution exon 1 RISN_ABCR:c.3898C>T ABCR:c.3898C>T RISN substitution exon 1 RISN_ABCR:c.3994C>T ABCR:c.3994C>T RISN substitution exon 1 RISN_ABCR:c.4073T>C ABCR:c.4073T>C RISN substitution exon 1 RISN_ABCR:c.4169T>C ABCR:c.4169T>C RISN substitution exon 1 RISN_ABCR:c.4254-2A>G ABCR:c.4254-2A>G RISN substitution intron 1 RISN_ABCR:c.4286T>C ABCR:c.4286T>C RISN substitution exon 1 RISN_ABCR:c.4318T>G ABCR:c.4318T>G RISN substitution exon 1 RISN_ABCR:c.4436G>A ABCR:c.4436G>A RISN substitution exon 1 RISN_ABCR:c.4463G>A ABCR:c.4463G>A RISN substitution exon 1 RISN_ABCR:c.4540-2A>G ABCR:c.4540-2A>G RISN substitution intron 1 RISN_ABCR:c.4667+2T>C ABCR:c.4667+2T>C RISN substitution intron 1 RISN_ABCR:c.4707delC ABCR:c.4707delC RISN deletion exon 1 RISN_ABCR:c.4773+2T>C ABCR:c.4773+2T>C RISN substitution intron 1 RISN_ABCR:c.4838delA ABCR:c.4838delA RISN deletion exon 1 RISN_ABCR:c.4854G>A ABCR:c.4854G>A RISN substitution exon 1 RISN_ABCR:c.4875T>A ABCR:c.4875T>A RISN substitution exon 1 RISN_ABCR:c.4926C>G ABCR:c.4926C>G RISN substitution exon 1 RISN_ABCR:c.4999C>A ABCR:c.4999C>A RISN substitution exon 1 RISN_ABCR:c.5018+2T>A ABCR:c.5018+2T>A RISN substitution intron 1 RISN_ABCR:c.5056G>A ABCR:c.5056G>A RISN substitution exon 1 RISN_ABCR:c.5065T>C ABCR:c.5065T>C RISN substitution exon 1 RISN_ABCR:c.5114G>T ABCR:c.5114G>T RISN substitution exon 1 RISN_ABCR:c.5160_5161delCA ABCR:c.5160_5161delCA RISN deletion exon 1 RISN_ABCR:c.5196+1_5196+4del ABCR:c.5196+1_5196+4del RISN deletion intron 1 RISN_ABCR:c.5196+1_5196+6del ABCR:c.5196+1_5196+6del RISN deletion intron 1 RISN_ABCR:c.5196+2T>G ABCR:c.5196+2T>G RISN substitution intron 1 RISN_ABCR:c.5242G>A ABCR:c.5242G>A RISN substitution exon 1 RISN_ABCR:c.5248C>T ABCR:c.5248C>T RISN substitution exon 1 RISN_ABCR:c.5278_5286del ABCR:c.5278_5286del RISN deletion exon 1 RISN_ABCR:c.5288T>C ABCR:c.5288T>C RISN substitution exon 1 RISN_ABCR:c.5337C>A ABCR:c.5337C>A RISN substitution exon 1 RISN_ABCR:c.5413A>G ABCR:c.5413A>G RISN substitution exon 1 RISN_ABCR:c.5460+1G>A ABCR:c.5460+1G>A RISN substitution intron 1 RISN_ABCR:c.5512C>G ABCR:c.5512C>G RISN substitution exon 1 RISN_ABCR:c.5585-10T>C ABCR:c.5585-10T>C RISN substitution intron 1 RISN_ABCR:c.5653G>A ABCR:c.5653G>A RISN substitution exon 1 RISN_ABCR:c.5761G>A ABCR:c.5761G>A RISN substitution exon 1 RISN_ABCR:c.5819T>C ABCR:c.5819T>C RISN substitution exon 1 RISN_ABCR:c.5912T>G ABCR:c.5912T>G RISN substitution exon 1 RISN_ABCR:c.5914G>A ABCR:c.5914G>A RISN substitution exon 1 RISN_ABCR:c.5923G>C ABCR:c.5923G>C RISN substitution exon 1 RISN_ABCR:c.5936C>T ABCR:c.5936C>T RISN substitution exon 1 RISN_ABCR:c.6118C>T ABCR:c.6118C>T RISN substitution exon 1 RISN_ABCR:c.6179T>G ABCR:c.6179T>G RISN substitution exon 1 RISN_ABCR:c.6190G>C ABCR:c.6190G>C RISN substitution exon 1 RISN_ABCR:c.6229C>G ABCR:c.6229C>G RISN substitution exon 1 RISN_ABCR:c.6238_6239delTC ABCR:c.6238_6239delTC RISN deletion exon 1 RISN_ABCR:c.6276G>A ABCR:c.6276G>A RISN substitution exon 1 RISN_ABCR:c.6320G>C ABCR:c.6320G>C RISN substitution exon 1 RISN_ABCR:c.6329G>A ABCR:c.6329G>A RISN substitution exon 1 RISN_ABCR:c.6386+2C>G ABCR:c.6386+2C>G RISN substitution exon 1 RISN_ABCR:c.6437G>A ABCR:c.6437G>A RISN substitution exon 1 RISN_ABCR:c.6609C>A ABCR:c.6609C>A RISN substitution exon 1 RISN_ABCR:c.6658C>T ABCR:c.6658C>T RISN substitution exon 1 RISN_ABCR:c.6709_6710insA ABCR:c.6709_6710insA RISN insertion exon 1 RISN_ABCR:c.6813C>T ABCR:c.6813C>T RISN substitution exon 1 RISN_ABCR:c.141G>A ABCR:c.141G>A RISN substitution exon 1 RISN_ABCR:c.161-45G>T ABCR:c.161-45G>T RISN substitution intron 1 RISN_ABCR:c.234C>T ABCR:c.234C>T RISN substitution exon 1 RISN_ABCR:c.302+20C>T ABCR:c.302+20C>T RISN substitution intron 1 RISN_ABCR:c.302+26A>G ABCR:c.302+26A>G RISN substitution intron 1 RISN_ABCR:c.303-71delA ABCR:c.303-71delA RISN deletion intron 1 RISN_ABCR:c.571-29G>T ABCR:c.571-29G>T RISN substitution intron 1 RISN_ABCR:c.635G>A ABCR:c.635G>A RISN substitution exon 1 RISN_ABCR:c.769-32T>C ABCR:c.769-32T>C RISN substitution intron 1 RISN_ABCR:c.859-11C>T ABCR:c.859-11C>T RISN substitution intron 1 RISN_ABCR:c.873G>A ABCR:c.873G>A RISN substitution exon 1 RISN_ABCR:c.928G>C ABCR:c.928G>C RISN substitution exon 1 RISN_ABCR:c.933C>T ABCR:c.933C>T RISN substitution exon 1 RISN_ABCR:c.981C>T ABCR:c.981C>T RISN substitution exon 1 RISN_ABCR:c.989G>A ABCR:c.989G>A RISN substitution exon 1 RISN_ABCR:c.1100-14T>C ABCR:c.1100-14T>C RISN substitution intron 1 RISN_ABCR:c.1240-14C>T ABCR:c.1240-14C>T RISN substitution intron 1 RISN_ABCR:c.1248A>C ABCR:c.1248A>C RISN substitution exon 1 RISN_ABCR:c.1268A>G ABCR:c.1268A>G RISN substitution exon 1 RISN_ABCR:c.1269C>T ABCR:c.1269C>T RISN substitution exon 1 RISN_ABCR:c.1356+11delG ABCR:c.1356+11delG RISN deletion intron 1 RISN_ABCR:c.1356+5_1356+6insC ABCR:c.1356+5_1356+6insC#insertion in reference# RISN insertion intron 1 RISN_ABCR:c.1356+6G>C ABCR:c.1356+6G>C RISN substitution intron 1 RISN_ABCR:c.1356+5delG ABCR:c.1356+5delG#insertion in reference# RISN deletion intron 1 RISN_ABCR:c.1623A>G ABCR:c.1623A>G RISN substitution exon 1 RISN_ABCR:c.1653G>A ABCR:c.1653G>A RISN substitution exon 1 RISN_ABCR:c.1760+22G>T ABCR:c.1760+22G>T RISN substitution intron 1 RISN_ABCR:c.1761-37G>A ABCR:c.1761-37G>A RISN substitution intron 1 RISN_ABCR:c.1761-50G>A ABCR:c.1761-50G>A RISN substitution intron 1 RISN_ABCR:c.1761-54G>A ABCR:c.1761-54G>A RISN substitution intron 1 RISN_ABCR:c.1878G>A ABCR:c.1878G>A RISN substitution exon 1 RISN_ABCR:c.1928T>G ABCR:c.1928T>G RISN substitution exon 1 RISN_ABCR:c.2127G>A ABCR:c.2127G>A RISN substitution exon 1 RISN_ABCR:c.2383-10C>G ABCR:c.2383-10C>G RISN substitution intron 1 RISN_ABCR:c.2536G>C ABCR:c.2536G>C RISN substitution exon 1 RISN_ABCR:c.2653+60G>C ABCR:c.2653+60G>C RISN substitution intron 1 RISN_ABCR:c.2654-21A>T ABCR:c.2654-21A>T RISN substitution intron 1 RISN_ABCR:c.2654-48G>C ABCR:c.2654-48G>C RISN substitution intron 1 RISN_ABCR:c.2701A>G ABCR:c.2701A>G RISN substitution exon 1 RISN_ABCR:c.2744-38delC ABCR:c.2744-38delC RISN deletion intron 1 RISN_ABCR:c.2744-56G>A ABCR:c.2744-56G>A RISN substitution intron 1 RISN_ABCR:c.2877C>T ABCR:c.2877C>T RISN substitution exon 1 RISN_ABCR:c.2964C>T ABCR:c.2964C>T RISN substitution exon 1 RISN_ABCR:c.2992C>T ABCR:c.2992C>T RISN substitution exon 1 RISN_ABCR:c.3051-14T>A ABCR:c.3051-14T>A RISN substitution intron 1 RISN_ABCR:c.3190+83A>T ABCR:c.3190+83A>T RISN substitution intron 1 RISN_ABCR:c.3191-20C>T ABCR:c.3191-20C>T RISN substitution intron 1 RISN_ABCR:c.3329-34A>G ABCR:c.3329-34A>G RISN substitution intron 1 RISN_ABCR:c.3523-12C>T ABCR:c.3523-12C>T RISN substitution intron 1 RISN_ABCR:c.3607+32G>A ABCR:c.3607+32G>A RISN substitution intron 1 RISN_ABCR:c.3608-16T>A ABCR:c.3608-16T>A RISN substitution intron 1 RISN_ABCR:c.3696T>G ABCR:c.3696T>G RISN substitution exon 1 RISN_ABCR:c.3940C>A ABCR:c.3940C>A RISN substitution exon 1 RISN_ABCR:c.4129-35A>T ABCR:c.4129-35A>T RISN substitution intron 1 RISN_ABCR:c.4129-71A>T ABCR:c.4129-71A>T RISN substitution intron 1 RISN_ABCR:c.4184T>C ABCR:c.4184T>C RISN substitution exon 1 RISN_ABCR:c.4203C>A ABCR:c.4203C>A RISN substitution exon 1 RISN_ABCR:c.4253+4C>T ABCR:c.4253+4C>T RISN substitution intron 1 RISN_ABCR:c.4253+43G>A ABCR:c.4253+43G>A RISN substitution intron 1 RISN_ABCR:c.4254-38G>A ABCR:c.4254-38G>A RISN substitution intron 1 RISN_ABCR:c.4254-47T>C ABCR:c.4254-47T>C RISN substitution intron 1 RISN_ABCR:c.4352+32G>A ABCR:c.4352+32G>A RISN substitution intron 1 RISN_ABCR:c.4352+13G>A ABCR:c.4352+13G>A RISN substitution intron 1 RISN_ABCR:c.4506C>T ABCR:c.4506C>T RISN substitution exon 1 RISN_ABCR:c.4539+35G>C ABCR:c.4539+35G>C RISN substitution intron 1 RISN_ABCR:c.4539+40C>T ABCR:c.4539+40C>T RISN substitution intron 1 RISN_ABCR:c.4539+3A>G ABCR:c.4539+3A>G RISN substitution intron 1 RISN_ABCR:c.4539+21delG ABCR:c.4539+21delG RISN deletion intron 1 RISN_ABCR:c.4668-38C>T ABCR:c.4668-38C>T RISN substitution intron 1 RISN_ABCR:c.4668-15C>T ABCR:c.4668-15C>T RISN substitution intron 1 RISN_ABCR:c.4746C>T ABCR:c.4746C>T RISN substitution exon 1 RISN_ABCR:c.4909G>A ABCR:c.4909G>A RISN substitution exon 1 RISN_ABCR:c.5019-32G>A ABCR:c.5019-32G>A RISN substitution intron 1 RISN_ABCR:c.5196+20G>A ABCR:c.5196+20G>A RISN substitution intron 1 RISN_ABCR:c.5312+45G>T ABCR:c.5312+45G>T RISN substitution intron 1 RISN_ABCR:c.5461-50_5461-51insG ABCR:c.5461-50_5461-51insG RISN insertion intron 1 RISN_ABCR:c.5461-38delT ABCR:c.5461-38delT RISN deletion intron 1 RISN_ABCR:c.5461-52delG ABCR:c.5461-52delG RISN deletion intron 1 RISN_ABCR:c.5461-49_5461-50insA ABCR:c.5461-49_5461-50insA RISN insertion intron 1 RISN_ABCR:c.5584+6_5584+17delins11 ABCR:c.5584+6_5584+17delins11 RISN complex intron 1 RISN_ABCR:c.5585-17T>A ABCR:c.5585-17T>A RISN substitution intron 1 RISN_ABCR:c.5603A>T ABCR:c.5603A>T RISN substitution exon 1 RISN_ABCR:c.5682G>C ABCR:c.5682G>C RISN substitution exon 1 RISN_ABCR:c.5715-25A>C ABCR:c.5715-25A>C RISN substitution intron 1 RISN_ABCR:c.5814A>G ABCR:c.5814A>G RISN substitution exon 1 RISN_ABCR:c.5836-40C>A ABCR:c.5836-40C>A RISN substitution intron 1 RISN_ABCR:c.5836-15_5836-16insT ABCR:c.5836-15_5836-16insT RISN insertion intron 1 RISN_ABCR:c.5836-11G>A ABCR:c.5836-11G>A RISN substitution intron 1 RISN_ABCR:c.5836-36_5836-37insTC ABCR:c.5836-36_5836-37insTC RISN insertion intron 1 RISN_ABCR:c.5836-24A>G ABCR:c.5836-24A>G RISN substitution intron 1 RISN_ABCR:c.5843C>T ABCR:c.5843C>T RISN substitution exon 1 RISN_ABCR:c.5844G>A ABCR:c.5844G>A RISN substitution exon 1 RISN_ABCR:c.5868C>T ABCR:c.5868C>T RISN substitution exon 1 RISN_ABCR:c.5886T>C ABCR:c.5886T>C RISN substitution exon 1 RISN_ABCR:c.5951_5952delinsCA ABCR:c.5951_5952delinsCA RISN complex exon 1 RISN_ABCR:c.6005+1G>T ABCR:c.6005+1G>T RISN substitution intron 1 RISN_ABCR:c.6006-16G>A ABCR:c.6006-16G>A RISN substitution intron 1 RISN_ABCR:c.6069C>T ABCR:c.6069C>T RISN substitution exon 1 RISN_ABCR:c.6076C>T ABCR:c.6076C>T RISN substitution exon 1 RISN_ABCR:c.6249C>T ABCR:c.6249C>T RISN substitution exon 1 RISN_ABCR:c.6255C>T ABCR:c.6255C>T RISN substitution exon 1 RISN_ABCR:c.6282+7G>A ABCR:c.6282+7G>A RISN substitution intron 1 RISN_ABCR:c.6285T>C ABCR:c.6285T>C RISN substitution exon 1 RISN_ABCR:c.6342G>A ABCR:c.6342G>A RISN substitution exon 1 RISN_ABCR:c.6693C>T ABCR:c.6693C>T RISN substitution exon 1 RISN_ABCR:c.6721C>G ABCR:c.6721C>G RISN substitution exon 1 RISN_ABCR:c.6729+21C>T ABCR:c.6729+21C>T RISN substitution intron 1 RISN_ABCR:c.6730-3T>C ABCR:c.6730-3T>C RISN substitution intron 1 RISN_ABCR:c.6730-27C>G ABCR:c.6730-27C>G RISN substitution intron 1 RISN_ABCR:c.6732G>A ABCR:c.6732G>A RISN substitution exon 1 RISN_ABCR:c.1A>G ABCR:c.1A>G RISN substitution exon 1 RISN_ABCR:c.38_46del ABCR:c.38_46del RISN deletion exon 1 RISN_ABCR:c.45G>A ABCR:c.45G>A RISN substitution exon 1 RISN_ABCR:c.71G>A ABCR:c.71G>A RISN substitution exon 1 RISN_ABCR:c.106delT ABCR:c.106delT RISN deletion exon 1 RISN_ABCR:c.160+1G>A ABCR:c.160+1G>A RISN substitution intron 1 RISN_ABCR:c.161G>A ABCR:c.161G>A RISN substitution exon 1 RISN_ABCR:c.174C>G ABCR:c.174C>G RISN substitution exon 1 RISN_ABCR:c.179C>T ABCR:c.179C>T RISN substitution exon 1 RISN_ABCR:c.203C>G ABCR:c.203C>G RISN substitution exon 1 RISN_ABCR:c.223T>G ABCR:c.223T>G RISN substitution exon 1 RISN_ABCR:c.230T>A ABCR:c.230T>A RISN substitution exon 1 RISN_ABCR:c.247_250delCAAA ABCR:c.247_250delCAAA RISN deletion exon 1 RISN_ABCR:c.286A>G ABCR:c.286A>G RISN substitution exon 1 RISN_ABCR:c.286A>C ABCR:c.286A>C RISN substitution exon 1 RISN_ABCR:c.298T>C ABCR:c.298T>C RISN substitution exon 1 RISN_ABCR:c.324dupT ABCR:c.324dupT RISN duplication exon 1 RISN_ABCR:c.428C>T ABCR:c.428C>T RISN substitution exon 1 RISN_ABCR:c.454C>T ABCR:c.454C>T RISN substitution exon 1 RISN_ABCR:c.455G>A ABCR:c.455G>A RISN substitution exon 1 RISN_ABCR:c.466A>G ABCR:c.466A>G RISN substitution exon 1 RISN_ABCR:c.514G>A ABCR:c.514G>A RISN substitution exon 1 RISN_ABCR:c.570G>C ABCR:c.570G>C RISN substitution exon 1 RISN_ABCR:c.571-2A>G ABCR:c.571-2A>G RISN substitution intron 1 RISN_ABCR:c.571-1G>T ABCR:c.571-1G>T RISN substitution intron 1 RISN_ABCR:c.574G>A ABCR:c.574G>A RISN substitution exon 1 RISN_ABCR:c.618C>G ABCR:c.618C>G RISN substitution exon 1 RISN_ABCR:c.656G>C ABCR:c.656G>C RISN substitution exon 1 RISN_ABCR:c.658C>T ABCR:c.658C>T RISN substitution exon 1 RISN_ABCR:c.661delG ABCR:c.661delG RISN deletion exon 1 RISN_ABCR:c.664_676del ABCR:c.664_676del RISN deletion exon 1 RISN_ABCR:c.666_676del ABCR:c.666_676del RISN deletion exon 1 RISN_ABCR:c.731T>C ABCR:c.731T>C RISN substitution exon 1 RISN_ABCR:c.746A>G ABCR:c.746A>G RISN substitution exon 1 RISN_ABCR:c.769-1G>T ABCR:c.769-1G>T RISN substitution intron 1 RISN_ABCR:c.832delT ABCR:c.832delT RISN deletion exon 1 RISN_ABCR:c.899C>A ABCR:c.899C>A RISN substitution exon 1 RISN_ABCR:c.926C>G ABCR:c.926C>G RISN substitution exon 1 RISN_ABCR:c.997C>T ABCR:c.997C>T RISN substitution exon 1 RISN_ABCR:c.1007C>G ABCR:c.1007C>G RISN substitution exon 1 RISN_ABCR:c.1018T>G ABCR:c.1018T>G RISN substitution exon 1 RISN_ABCR:c.1140T>A ABCR:c.1140T>A RISN substitution exon 1 RISN_ABCR:c.1222C>T ABCR:c.1222C>T RISN substitution exon 1 RISN_ABCR:c.1272T>C ABCR:c.1272T>C RISN substitution exon 1 RISN_ABCR:c.1335C>G ABCR:c.1335C>G RISN substitution exon 1 RISN_ABCR:c.1341delG ABCR:c.1341delG RISN deletion exon 1 RISN_ABCR:c.1344delG ABCR:c.1344delG RISN deletion exon 1 RISN_ABCR:c.1387_1388delTT ABCR:c.1387_1388delTT RISN deletion exon 1 RISN_ABCR:c.1513_1517delATCAC ABCR:c.1513_1517delATCAC RISN deletion exon 1 RISN_ABCR:c.1526delC ABCR:c.1526delC RISN deletion exon 1 RISN_ABCR:c.1569T>G ABCR:c.1569T>G RISN substitution exon 1 RISN_ABCR:c.1575T>G ABCR:c.1575T>G RISN substitution exon 1 RISN_ABCR:c.1609C>T ABCR:c.1609C>T RISN substitution exon 1 RISN_ABCR:c.1645G>C ABCR:c.1645G>C RISN substitution exon 1 RISN_ABCR:c.1648G>A ABCR:c.1648G>A RISN substitution exon 1 RISN_ABCR:c.1715G>A ABCR:c.1715G>A RISN substitution exon 1 RISN_ABCR:c.1715G>C ABCR:c.1715G>C RISN substitution exon 1 RISN_ABCR:c.1804C>T ABCR:c.1804C>T RISN substitution exon 1 RISN_ABCR:c.1805G>A ABCR:c.1805G>A RISN substitution exon 1 RISN_ABCR:c.1811T>G ABCR:c.1811T>G RISN substitution exon 1 RISN_ABCR:c.1819G>T ABCR:c.1819G>T RISN substitution exon 1 RISN_ABCR:c.1819G>A ABCR:c.1819G>A RISN substitution exon 1 RISN_ABCR:c.1894delA ABCR:c.1894delA RISN deletion exon 1 RISN_ABCR:c.1903C>T ABCR:c.1903C>T RISN substitution exon 1 RISN_ABCR:c.1917C>A ABCR:c.1917C>A RISN substitution exon 1 RISN_ABCR:c.1922G>C ABCR:c.1922G>C RISN substitution exon 1 RISN_ABCR:c.1927G>A ABCR:c.1927G>A RISN substitution exon 1 RISN_ABCR:c.1933G>A ABCR:c.1933G>A RISN substitution exon 1 RISN_ABCR:c.1937+2T>C ABCR:c.1937+2T>C RISN substitution intron 1 RISN_ABCR:c.1957C>T ABCR:c.1957C>T RISN substitution exon 1 RISN_ABCR:c.1989G>A ABCR:c.1989G>A RISN substitution exon 1 RISN_ABCR:c.2005_2006delAT ABCR:c.2005_2006delAT RISN deletion exon 1 RISN_ABCR:c.2041C>T ABCR:c.2041C>T RISN substitution exon 1 RISN_ABCR:c.2090G>A ABCR:c.2090G>A RISN substitution exon 1 RISN_ABCR:c.2099G>A ABCR:c.2099G>A RISN substitution exon 1 RISN_ABCR:c.2147C>T ABCR:c.2147C>T RISN substitution exon 1 RISN_ABCR:c.2160+1G>C ABCR:c.2160+1G>C RISN substitution intron 1 RISN_ABCR:c.2291G>A ABCR:c.2291G>A RISN substitution exon 1 RISN_ABCR:c.2294G>A ABCR:c.2294G>A RISN substitution exon 1 RISN_ABCR:c.2337C>A ABCR:c.2337C>A RISN substitution exon 1 RISN_ABCR:c.2385_2400del ABCR:c.2385_2400del RISN deletion exon 1 RISN_ABCR:c.2390T>C ABCR:c.2390T>C RISN substitution exon 1 RISN_ABCR:c.2461T>A ABCR:c.2461T>A RISN substitution exon 1 RISN_ABCR:c.2472C>T ABCR:c.2472C>T RISN substitution exon 1 RISN_ABCR:c.2546T>C ABCR:c.2546T>C RISN substitution exon 1 RISN_ABCR:c.2552G>A ABCR:c.2552G>A RISN substitution exon 1 RISN_ABCR:c.2560G>A ABCR:c.2560G>A RISN substitution exon 1 RISN_ABCR:c.2565G>A ABCR:c.2565G>A RISN substitution exon 1 RISN_ABCR:c.2587+1G>A ABCR:c.2587+1G>A RISN substitution intron 1 RISN_ABCR:c.2617T>C ABCR:c.2617T>C RISN substitution exon 1 RISN_ABCR:c.2690C>T ABCR:c.2690C>T RISN substitution exon 1 RISN_ABCR:c.2692G>A ABCR:c.2692G>A RISN substitution exon 1 RISN_ABCR:c.2703A>G ABCR:c.2703A>G RISN substitution exon 1 RISN_ABCR:c.2791G>A ABCR:c.2791G>A RISN substitution exon 1 RISN_ABCR:c.2804T>C ABCR:c.2804T>C RISN substitution exon 1 RISN_ABCR:c.2820C>G ABCR:c.2820C>G RISN substitution exon 1 RISN_ABCR:c.2827C>T ABCR:c.2827C>T RISN substitution exon 1 RISN_ABCR:c.2860T>G ABCR:c.2860T>G RISN substitution exon 1 RISN_ABCR:c.2870A>G ABCR:c.2870A>G RISN substitution exon 1 RISN_ABCR:c.2893A>G ABCR:c.2893A>G RISN substitution exon 1 RISN_ABCR:c.2912C>A ABCR:c.2912C>A RISN substitution exon 1 RISN_ABCR:c.2915C>A ABCR:c.2915C>A RISN substitution exon 1 RISN_ABCR:c.2920T>C ABCR:c.2920T>C RISN substitution exon 1 RISN_ABCR:c.2932G>T ABCR:c.2932G>T RISN substitution exon 1 RISN_ABCR:c.(?_2919)_(3328_?)del ABCR:c.(?_2919)_(3328_?)del RISN deletion not within known transcription unit 0 RISN_ABCR:c.2933G>A ABCR:c.2933G>A RISN substitution exon 1 RISN_ABCR:c.2966T>C ABCR:c.2966T>C RISN substitution exon 1 RISN_ABCR:c.2971G>T ABCR:c.2971G>T RISN substitution exon 1 RISN_ABCR:c.2977_2984del ABCR:c.2977_2984del RISN deletion exon 1 RISN_ABCR:c.3041T>G ABCR:c.3041T>G RISN substitution exon 1 RISN_ABCR:c.3055A>G ABCR:c.3055A>G RISN substitution exon 1 RISN_ABCR:c.3057G>T ABCR:c.3057G>T RISN substitution exon 1 RISN_ABCR:c.3064G>A ABCR:c.3064G>A RISN substitution exon 1 RISN_ABCR:c.3091A>G ABCR:c.3091A>G RISN substitution exon 1 RISN_ABCR:c.3106G>A ABCR:c.3106G>A RISN substitution exon 1 RISN_ABCR:c.3149G>A ABCR:c.3149G>A RISN substitution exon 1 RISN_ABCR:c.3205_3206dupAA ABCR:c.3205_3206dupAA RISN duplication exon 1 RISN_ABCR:c.3210_3211insGT ABCR:c.3210_3211insGT RISN insertion exon 1 RISN_ABCR:c.3212C>T ABCR:c.3212C>T RISN substitution exon 1 RISN_ABCR:c.3216T>C ABCR:c.3216T>C RISN substitution exon 1 RISN_ABCR:c.3291A>G ABCR:c.3291A>G RISN substitution exon 1 RISN_ABCR:c.3295T>C ABCR:c.3295T>C RISN substitution exon 1 RISN_ABCR:c.3322C>T ABCR:c.3322C>T RISN substitution exon 1 RISN_ABCR:c.3323G>A ABCR:c.3323G>A RISN substitution exon 1 RISN_ABCR:c.3335C>A ABCR:c.3335C>A RISN substitution exon 1 RISN_ABCR:c.3366G>C ABCR:c.3366G>C RISN substitution exon 1 RISN_ABCR:c.3392delC ABCR:c.3392delC RISN deletion exon 1 RISN_ABCR:c.3531C>A ABCR:c.3531C>A RISN substitution exon 1 RISN_ABCR:c.3602T>G ABCR:c.3602T>G RISN substitution exon 1 RISN_ABCR:c.3610G>A ABCR:c.3610G>A RISN substitution exon 1 RISN_ABCR:c.3749T>C ABCR:c.3749T>C RISN substitution exon 1 RISN_ABCR:c.3835_3840delGATTCT ABCR:c.3835_3840delGATTCT RISN deletion exon 1 RISN_ABCR:c.3899G>A ABCR:c.3899G>A RISN substitution exon 1 RISN_ABCR:c.4139C>T ABCR:c.4139C>T RISN substitution exon 1 RISN_ABCR:c.4163T>C ABCR:c.4163T>C RISN substitution exon 1 RISN_ABCR:c.4195G>A ABCR:c.4195G>A RISN substitution exon 1 RISN_ABCR:c.4200C>T ABCR:c.4200C>T RISN substitution exon 1 RISN_ABCR:c.4216C>T ABCR:c.4216C>T RISN substitution exon 1 RISN_ABCR:c.4223G>T ABCR:c.4223G>T RISN substitution exon 1 RISN_ABCR:c.4222T>C ABCR:c.4222T>C RISN substitution exon 1 RISN_ABCR:c.4231_4232insTATG ABCR:c.4231_4232insTATG RISN insertion exon 1 RISN_ABCR:c.4234C>T ABCR:c.4234C>T RISN substitution exon 1 RISN_ABCR:c.4253+5G>T ABCR:c.4253+5G>T RISN substitution intron 1 RISN_ABCR:c.4253+1G>T ABCR:c.4253+1G>T RISN substitution intron 1 RISN_ABCR:c.4316G>A ABCR:c.4316G>A RISN substitution exon 1 RISN_ABCR:c.4319T>C ABCR:c.4319T>C RISN substitution exon 1 RISN_ABCR:c.4328G>A ABCR:c.4328G>A RISN substitution exon 1 RISN_ABCR:c.4346G>A ABCR:c.4346G>A RISN substitution exon 1 RISN_ABCR:c.4353-1G>T ABCR:c.4353-1G>T RISN substitution exon 1 RISN_ABCR:c.4457C>T ABCR:c.4457C>T RISN substitution exon 1 RISN_ABCR:c.4462T>C ABCR:c.4462T>C RISN substitution exon 1 RISN_ABCR:c.4463G>T ABCR:c.4463G>T RISN substitution exon 1 RISN_ABCR:c.4468T>A ABCR:c.4468T>A RISN substitution exon 1 RISN_ABCR:c.4506C>A ABCR:c.4506C>A RISN substitution exon 1 RISN_ABCR:c.4535C>G ABCR:c.4535C>G RISN substitution exon 1 RISN_ABCR:c.4538A>G ABCR:c.4538A>G RISN substitution exon 1 RISN_ABCR:c.4574T>C ABCR:c.4574T>C RISN substitution exon 1 RISN_ABCR:c.4577C>T ABCR:c.4577C>T RISN substitution exon 1 RISN_ABCR:c.4594G>A ABCR:c.4594G>A RISN substitution exon 1 RISN_ABCR:c.4610C>T ABCR:c.4610C>T RISN substitution exon 1 RISN_ABCR:c.4748T>C ABCR:c.4748T>C RISN substitution exon 1 RISN_ABCR:c.4774-2A>C ABCR:c.4774-2A>C RISN substitution intron 1 RISN_ABCR:c.4793C>A ABCR:c.4793C>A RISN substitution exon 1 RISN_ABCR:c.4849-1G>C ABCR:c.4849-1G>C RISN substitution intron 1 RISN_ABCR:c.4859_4864delins4 ABCR:c.4859_4864delins4 RISN complex exon 1 RISN_ABCR:c.4867G>A ABCR:c.4867G>A RISN substitution exon 1 RISN_ABCR:c.4892T>C ABCR:c.4892T>C RISN substitution exon 1 RISN_ABCR:c.4944delC ABCR:c.4944delC RISN deletion exon 1 RISN_ABCR:c.4954T>G ABCR:c.4954T>G RISN substitution exon 1 RISN_ABCR:c.4956T>G ABCR:c.4956T>G RISN substitution exon 1 RISN_ABCR:c.5018+2T>C ABCR:c.5018+2T>C RISN substitution intron 1 RISN_ABCR:c.5041_5055del ABCR:c.5041_5055del RISN deletion exon 1 RISN_ABCR:c.5077G>A ABCR:c.5077G>A RISN substitution exon 1 RISN_ABCR:c.5087G>A ABCR:c.5087G>A RISN substitution exon 1 RISN_ABCR:c.5107C>G ABCR:c.5107C>G RISN substitution exon 1 RISN_ABCR:c.5161_5162delAC ABCR:c.5161_5162delAC RISN deletion exon 1 RISN_ABCR:c.5186T>C ABCR:c.5186T>C RISN substitution exon 1 RISN_ABCR:c.5206T>C ABCR:c.5206T>C RISN substitution exon 1 RISN_ABCR:c.5212_5222del ABCR:c.5212_5222del RISN deletion exon 1 RISN_ABCR:c.5222_5232delTGGTGGTGGGC ABCR:c.5222_5232delTGGTGGTGGGC RISN deletion exon 1 RISN_ABCR:c.5223_5233del ABCR:c.5223_5233del RISN deletion exon 1 RISN_ABCR:c.5281_5289del ABCR:c.5281_5289del RISN deletion exon 1 RISN_ABCR:c.5316G>A ABCR:c.5316G>A RISN substitution exon 1 RISN_ABCR:c.5327_5328delinsTG ABCR:c.5327_5328delinsTG RISN complex exon 1 RISN_ABCR:c.5337C>G ABCR:c.5337C>G RISN substitution exon 1 RISN_ABCR:c.5395A>G ABCR:c.5395A>G RISN substitution exon 1 RISN_ABCR:c.5459G>C ABCR:c.5459G>C RISN substitution exon 1 RISN_ABCR:c.5512C>T ABCR:c.5512C>T RISN substitution exon 1 RISN_ABCR:c.5527C>T ABCR:c.5527C>T RISN substitution exon 1 RISN_ABCR:c.5537T>C ABCR:c.5537T>C RISN substitution exon 1 RISN_ABCR:c.5584+5G>A ABCR:c.5584+5G>A RISN substitution intron 1 RISN_ABCR:c.5584+6T>C ABCR:c.5584+6T>C RISN substitution intron 1 RISN_ABCR:c.5585-1G>A ABCR:c.5585-1G>A RISN substitution intron 1 RISN_ABCR:c.5644A>G ABCR:c.5644A>G RISN substitution exon 1 RISN_ABCR:c.5651T>A ABCR:c.5651T>A RISN substitution exon 1 RISN_ABCR:c.5657G>A ABCR:c.5657G>A RISN substitution exon 1 RISN_ABCR:c.5668_5670delTTC ABCR:c.5668_5670delTTC RISN deletion exon 1 RISN_ABCR:c.5687T>A ABCR:c.5687T>A RISN substitution exon 1 RISN_ABCR:c.5836-2delA ABCR:c.5836-2delA RISN deletion intron 1 RISN_ABCR:c.5898+1G>T ABCR:c.5898+1G>T RISN substitution intron 1 RISN_ABCR:c.5929G>A ABCR:c.5929G>A RISN substitution exon 1 RISN_ABCR:c.5961_5964delGGAC ABCR:c.5961_5964delGGAC RISN deletion exon 1 RISN_ABCR:c.6089G>A ABCR:c.6089G>A RISN substitution exon 1 RISN_ABCR:c.6104T>C ABCR:c.6104T>C RISN substitution exon 1 RISN_ABCR:c.6112C>T ABCR:c.6112C>T RISN substitution exon 1 RISN_ABCR:c.6166A>T ABCR:c.6166A>T RISN substitution exon 1 RISN_ABCR:c.6213C>T ABCR:c.6213C>T RISN substitution exon 1 RISN_ABCR:c.6229C>T ABCR:c.6229C>T RISN substitution exon 1 RISN_ABCR:c.6286G>A ABCR:c.6286G>A RISN substitution exon 1 RISN_ABCR:c.6300delG ABCR:c.6300delG RISN deletion exon 1 RISN_ABCR:c.6316C>T ABCR:c.6316C>T RISN substitution exon 1 RISN_ABCR:c.6320G>A ABCR:c.6320G>A RISN substitution exon 1 RISN_ABCR:c.6339C>G ABCR:c.6339C>G RISN substitution exon 1 RISN_ABCR:c.6352delA ABCR:c.6352delA RISN deletion exon 1 RISN_ABCR:c.6383A>G ABCR:c.6383A>G RISN substitution exon 1 RISN_ABCR:c.6391G>A ABCR:c.6391G>A RISN substitution exon 1 RISN_ABCR:c.6415C>T ABCR:c.6415C>T RISN substitution exon 1 RISN_ABCR:c.6445C>T ABCR:c.6445C>T RISN substitution exon 1 RISN_ABCR:c.6446G>T ABCR:c.6446G>T RISN substitution exon 1 RISN_ABCR:c.6448T>C ABCR:c.6448T>C RISN substitution exon 1 RISN_ABCR:c.6479A>G ABCR:c.6479A>G RISN substitution exon 1 RISN_ABCR:c.6543_6578del ABCR:c.6543_6578del RISN deletion exon 1 RISN_ABCR:c.6563T>C ABCR:c.6563T>C RISN substitution exon 1 RISN_ABCR:c.6686T>C ABCR:c.6686T>C RISN substitution exon 1 RISN_ABCR:c.6707_6714delTCACACAG ABCR:c.6707_6714delTCACACAG RISN deletion exon 1 RISN_ABCR:c.6708_6709insG ABCR:c.6708_6709insG RISN insertion exon 1 RISN_ABCR:c.6729+1G>A ABCR:c.6729+1G>A RISN substitution exon 1 RISN_ABCR:c.6748delA ABCR:c.6748delA RISN deletion exon 1 RISN_ABCR:c.6788G>T ABCR:c.6788G>T RISN substitution exon 1 RISN_ABCR:c.2828G>A ABCR:c.2828G>A RISN substitution exon 1 RISN_ABCR:c.3050+5G>A ABCR:c.3050+5G>A RISN substitution intron 1 RISN_ABCR:c.5451T>G ABCR:c.5451T>G RISN substitution exon 1 RISN_ABCR:c.6764G>T ABCR:c.6764G>T RISN substitution exon 1 RISN_ABCR:c.1938-1G>A ABCR:c.1938-1G>A RISN substitution intron 1 RISN_ABCR:c.1220C>T ABCR:c.1220C>T RISN substitution exon 1 RISN_RPGRIP:c.1639G>T RPGRIP:c.1639G>T RISN substitution exon 1 RISN_RPGRIP:c.2480G>T RPGRIP:c.2480G>T RISN substitution exon 1 RISN_RPGRIP:c.195G>A RPGRIP:c.195G>A RISN substitution exon 1 RISN_RPGRIP:c.511delT RPGRIP:c.511delT RISN deletion exon 1 RISN_RPGRIP:c.1103delA RPGRIP:c.1103delA RISN deletion exon 1 RISN_RPGRIP:c.1525C>T RPGRIP:c.1525C>T RISN substitution exon 1 RISN_RPGRIP:c.15500_15501insTGTC RPGRIP:c.15500_15501insTGTC RISN insertion exon 1 RISN_RPGRIP:c.2237G>A RPGRIP:c.2237G>A RISN substitution exon 1 RISN_RPGRIP:c.2565_2566insTT RPGRIP:c.2565_2566insTT RISN insertion exon 1 RISN_RPGRIP:c.2759dupA RPGRIP:c.2759dupA RISN duplication exon 1 RISN_RPGRIP:c.3609delT RPGRIP:c.3609delT RISN deletion exon 1 RISN_RPGRIP:c.3628_3629insG RPGRIP:c.3628_3629insG RISN insertion exon 1 RISN_RPGRIP:c.3835_3837delGAG RPGRIP:c.3835_3837delGAG RISN deletion exon 1 RISN_RPGRIP:c.287C>A RPGRIP:c.287C>A RISN substitution exon 1 RISN_RPGRIP:c.525A>G RPGRIP:c.525A>G RISN substitution exon 1 RISN_RPGRIP:c.574A>G RPGRIP:c.574A>G RISN substitution exon 1 RISN_RPGRIP:c.1797G>A RPGRIP:c.1797G>A RISN substitution exon 1 RISN_RPGRIP:c.3546C>T RPGRIP:c.3546C>T RISN substitution exon 1 RISN_RPGRIP:c.3780A>T RPGRIP:c.3780A>T RISN substitution exon 1 RISN_RPGRIP:c.256C>T RPGRIP:c.256C>T RISN substitution exon 1 RISN_RPGRIP:c.1707T>G RPGRIP:c.1707T>G RISN substitution exon 1 RISN_RPGRIP:c.2627A>G RPGRIP:c.2627A>G RISN substitution exon 1 RISN_RPE65:c.2T>C RPE65:c.2T>C RISN substitution exon 1 RISN_RPE65:c.11+34T>A RPE65:c.11+34T>A RISN substitution intron 1 RISN_RPE65:c.11+5G>A RPE65:c.11+5G>A RISN substitution intron 1 RISN_RPE65:c.48T>C RPE65:c.48T>C RISN substitution exon 1 RISN_RPE65:c.57_58delGG RPE65:c.57_58delGG RISN deletion exon 1 RISN_RPE65:c.65T>C RPE65:c.65T>C RISN substitution exon 1 RISN_RPE65:c.89_90insT RPE65:c.89_90insT RISN insertion exon 1 RISN_RPE65:c.95G>T RPE65:c.95G>T RISN substitution exon 1 RISN_RPE65:c.95-2A>T RPE65:c.95-2A>T RISN substitution intron 1 RISN_RPE65:c.106_114delCTCTGGCTC RPE65:c.106_114delCTCTGGCTC RISN deletion exon 1 RISN_RPE65:c.118G>A RPE65:c.118G>A RISN substitution exon 1 RISN_RPE65:c.131G>A RPE65:c.131G>A RISN substitution exon 1 RISN_RPE65:c.136delG RPE65:c.136delG RISN deletion exon 1 RISN_RPE65:c.202C>T RPE65:c.202C>T RISN substitution exon 1 RISN_RPE65:c.208_209delinsGG RPE65:c.208_209delinsGG RISN complex exon 1 RISN_RPE65:c.231C>A RPE65:c.231C>A RISN substitution exon 1 RISN_RPE65:c.235T>C RPE65:c.235T>C RISN substitution exon 1 RISN_RPE65:c.254G>A RPE65:c.254G>A RISN substitution exon 1 RISN_RPE65:c.271C>T RPE65:c.271C>T RISN substitution exon 1 RISN_RPE65:c.271_272insA RPE65:c.271_272insA RISN insertion exon 1 RISN_RPE65:c.272G>A RPE65:c.272G>A RISN substitution exon 1 RISN_RPE65:c.272G>C RPE65:c.272G>C RISN substitution exon 1 RISN_RPE65:c.283G>C RPE65:c.283G>C RISN substitution exon 1 RISN_RPE65:c.290_309del RPE65:c.290_309del RISN deletion exon 1 RISN_RPE65:c.304G>A RPE65:c.304G>A RISN substitution exon 1 RISN_RPE65:c.304G>T RPE65:c.304G>T RISN substitution exon 1 RISN_RPE65:c.311G>T RPE65:c.311G>T RISN substitution exon 1 RISN_RPE65:c.353+1G>T RPE65:c.353+1G>T RISN substitution intron 1 RISN_RPE65:c.370C>T RPE65:c.370C>T RISN substitution exon 1 RISN_RPE65:c.394G>A RPE65:c.394G>A RISN substitution exon 1 RISN_RPE65:c.399T>C RPE65:c.399T>C RISN substitution exon 1 RISN_RPE65:c.430T>G RPE65:c.430T>G RISN substitution exon 1 RISN_RPE65:c.432C>T RPE65:c.432C>T RISN substitution exon 1 RISN_RPE65:c.444G>T RPE65:c.444G>T RISN substitution exon 1 RISN_RPE65:c.495_495+1insG RPE65:c.495_495+1insG RISN insertion intron 1 RISN_RPE65:c.499G>T RPE65:c.499G>T RISN substitution exon 1 RISN_RPE65:c.544C>A RPE65:c.544C>A RISN substitution exon 1 RISN_RPE65:c.544C>T RPE65:c.544C>T RISN substitution exon 1 RISN_RPE65:c.570C>T RPE65:c.570C>T RISN substitution exon 1 RISN_RPE65:c.609C>T RPE65:c.609C>T RISN substitution exon 1 RISN_RPE65:c.614A>G RPE65:c.614A>G RISN substitution exon 1 RISN_RPE65:c.615_616delCA RPE65:c.615_616delCA RISN deletion exon 1 RISN_RPE65:c.643+1G>C RPE65:c.643+1G>C RISN substitution intron 1 RISN_RPE65:c.643+5G>A RPE65:c.643+5G>A RISN substitution intron 1 RISN_RPE65:c.644-2A>T RPE65:c.644-2A>T RISN substitution intron 1 RISN_RPE65:c.644A>G RPE65:c.644A>G RISN substitution exon 1 RISN_RPE65:c.644-1G>T RPE65:c.644-1G>T RISN substitution intron 1 RISN_RPE65:c.644-33G>C RPE65:c.644-33G>C RISN substitution intron 1 RISN_RPE65:c.644-42delT RPE65:c.644-42delT RISN deletion intron 1 RISN_RPE65:c.644-43delA RPE65:c.644-43delA RISN deletion intron 1 RISN_RPE65:c.700C>T RPE65:c.700C>T RISN substitution exon 1 RISN_RPE65:c.715T>G RPE65:c.715T>G RISN substitution exon 1 RISN_RPE65:c.725+4A>G RPE65:c.725+4A>G RISN substitution intron 1 RISN_RPE65:c.777_784del RPE65:c.777_784del RISN deletion exon 1 RISN_RPE65:c.858+1G>A RPE65:c.858+1G>A RISN substitution intron 1 RISN_RPE65:c.858+1G>T RPE65:c.858+1G>T RISN substitution intron 1 RISN_RPE65:c.858+4A>G RPE65:c.858+4A>G RISN substitution intron 1 RISN_RPE65:c.859G>T RPE65:c.859G>T RISN substitution exon 1 RISN_RPE65:c.881A>C RPE65:c.881A>C RISN substitution exon 1 RISN_RPE65:c.889delA RPE65:c.889delA RISN deletion exon 1 RISN_RPE65:c.894delG RPE65:c.894delG RISN deletion exon 1 RISN_RPE65:c.907A>T RPE65:c.907A>T RISN substitution exon 1 RISN_RPE65:c.952T>A RPE65:c.952T>A RISN substitution exon 1 RISN_RPE65:c.962dupA RPE65:c.962dupA RISN duplication exon 1 RISN_RPE65:c.978G>T RPE65:c.978G>T RISN substitution exon 1 RISN_RPE65:c.989G>A RPE65:c.989G>A RISN substitution exon 1 RISN_RPE65:c.1022T>C RPE65:c.1022T>C RISN substitution exon 1 RISN_RPE65:c.1046_1047insTGG RPE65:c.1046_1047insTGG RISN insertion exon 1 RISN_RPE65:c.1053A>G RPE65:c.1053A>G RISN substitution exon 1 RISN_RPE65:c.1056G>A RPE65:c.1056G>A RISN substitution exon 1 RISN_RPE65:c.1060delA RPE65:c.1060delA RISN deletion exon 1 RISN_RPE65:c.1068_1069ins1 RPE65:c.1068_1069ins1 RISN insertion exon 1 RISN_RPE65:c.1078G>C RPE65:c.1078G>C RISN substitution exon 1 RISN_RPE65:c.1102T>C RPE65:c.1102T>C RISN substitution exon 1 RISN_RPE65:c.1103A>G RPE65:c.1103A>G RISN substitution exon 1 RISN_RPE65:c.1120delA RPE65:c.1120delA RISN deletion exon 1 RISN_RPE65:c.1155G>A RPE65:c.1155G>A RISN substitution exon 1 RISN_RPE65:c.1178C>G RPE65:c.1178C>G RISN substitution exon 1 RISN_RPE65:c.1207_1210dupCTGG RPE65:c.1207_1210dupCTGG RISN duplication exon 1 RISN_RPE65:c.1208T>C RPE65:c.1208T>C RISN substitution exon 1 RISN_RPE65:c.1220T>C RPE65:c.1220T>C RISN substitution exon 1 RISN_RPE65:c.1223T>C RPE65:c.1223T>C RISN substitution exon 1 RISN_RPE65:c.1249G>C RPE65:c.1249G>C RISN substitution exon 1 RISN_RPE65:c.1292A>G RPE65:c.1292A>G RISN substitution exon 1 RISN_RPE65:c.1301C>T RPE65:c.1301C>T RISN substitution exon 1 RISN_RPE65:c.1302G>C RPE65:c.1302G>C RISN substitution exon 1 RISN_RPE65:c.1304A>G RPE65:c.1304A>G RISN substitution exon 1 RISN_RPE65:c.1307G>T RPE65:c.1307G>T RISN substitution exon 1 RISN_RPE65:c.1338+20A>C RPE65:c.1338+20A>C RISN substitution intron 1 RISN_RPE65:c.1350G>T RPE65:c.1350G>T RISN substitution exon 1 RISN_RPE65:c.1355T>G RPE65:c.1355T>G RISN substitution exon 1 RISN_RPE65:c.1370C>A RPE65:c.1370C>A RISN substitution exon 1 RISN_RPE65:c.1384G>T RPE65:c.1384G>T RISN substitution exon 1 RISN_RPE65:c.1418T>A RPE65:c.1418T>A RISN substitution exon 1 RISN_RPE65:c.1451G>A RPE65:c.1451G>A RISN substitution exon 1 RISN_RPE65:c.1451-22C>T RPE65:c.1451-22C>T RISN substitution intron 1 RISN_RPE65:c.1543C>T RPE65:c.1543C>T RISN substitution exon 1 RISN_RPE65:c.1559T>C RPE65:c.1559T>C RISN substitution exon 1 RISN_RPE65:c.1590delC RPE65:c.1590delC RISN deletion exon 1 RISN_AIPL1:c.1053_1064del AIPL1:c.1053_1064del RISN deletion exon 1 RISN_AIPL1:c.97-9G>A AIPL1:c.97-9G>A RISN substitution intron 1 RISN_AIPL1:c.276+66G>C AIPL1:c.276+66G>C RISN substitution intron 1 RISN_AIPL1:c.277-88C>T AIPL1:c.277-88C>T RISN substitution intron 1 RISN_AIPL1:c.277-14G>A AIPL1:c.277-14G>A RISN substitution intron 1 RISN_AIPL1:c.277-10A>C AIPL1:c.277-10A>C RISN substitution intron 1 RISN_AIPL1:c.466-25C>T AIPL1:c.466-25C>T RISN substitution intron 1 RISN_AIPL1:c.466-22T>C AIPL1:c.466-22T>C RISN substitution intron 1 RISN_AIPL1:c.784+18G>A AIPL1:c.784+18G>A RISN substitution intron 1 RISN_AIPL1:c.268G>C AIPL1:c.268G>C RISN substitution exon 1 RISN_AIPL1:c.157C>T AIPL1:c.157C>T RISN substitution exon 1 RISN_AIPL1:c.236T>C AIPL1:c.236T>C RISN substitution exon 1 RISN_AIPL1:c.264G>A AIPL1:c.264G>A RISN substitution exon 1 RISN_AIPL1:c.277-2A>G AIPL1:c.277-2A>G RISN substitution intron 1 RISN_AIPL1:c.286G>A AIPL1:c.286G>A RISN substitution exon 1 RISN_AIPL1:c.341C>T AIPL1:c.341C>T RISN substitution exon 1 RISN_AIPL1:c.487C>T AIPL1:c.487C>T RISN substitution exon 1 RISN_AIPL1:c.589G>C AIPL1:c.589G>C RISN substitution exon 1 RISN_AIPL1:c.617T>A AIPL1:c.617T>A RISN substitution exon 1 RISN_AIPL1:c.715T>C AIPL1:c.715T>C RISN substitution exon 1 RISN_AIPL1:c.784G>A AIPL1:c.784G>A RISN substitution exon 1 RISN_AIPL1:c.834G>A AIPL1:c.834G>A RISN substitution exon 1 RISN_AIPL1:c.905G>T AIPL1:c.905G>T RISN substitution exon 1 RISN_AIPL1:c.1010_1011delAG AIPL1:c.1010_1011delAG RISN deletion exon 1 RISN_AIPL1:c.1126C>T AIPL1:c.1126C>T RISN substitution exon 1 RISN_AIPL1:c.111C>T AIPL1:c.111C>T RISN substitution exon 1 RISN_AIPL1:c.234C>T AIPL1:c.234C>T RISN substitution exon 1 RISN_AIPL1:c.267C>T AIPL1:c.267C>T RISN substitution exon 1 RISN_AIPL1:c.516T>C AIPL1:c.516T>C RISN substitution exon 1 RISN_AIPL1:c.651A>G AIPL1:c.651A>G RISN substitution exon 1 RISN_AIPL1:c.765T>C AIPL1:c.765T>C RISN substitution exon 1 RISN_NYX:c.556_605delins3 NYX:c.556_605delins3 RISN complex exon 1 RISN_NYX:c.85_108del NYX:c.85_108del RISN deletion exon 1 RISN_NYX:c.92G>C NYX:c.92G>C RISN substitution exon 1 RISN_NYX:c.105C>A NYX:c.105C>A RISN substitution exon 1 RISN_NYX:c.340_354del NYX:c.340_354del RISN deletion exon 1 RISN_NYX:c.427G>C NYX:c.427G>C RISN substitution exon 1 RISN_NYX:c.452C>T NYX:c.452C>T RISN substitution exon 1 RISN_NYX:c.463_464ins21 NYX:c.463_464ins21 RISN insertion exon 1 RISN_NYX:c.524C>G NYX:c.524C>G RISN substitution exon 1 RISN_NYX:c.551T>C NYX:c.551T>C RISN substitution exon 1 RISN_NYX:c.559_560delinsAA NYX:c.559_560delinsAA RISN complex exon 1 RISN_NYX:c.618_619ins9 NYX:c.618_619ins9 RISN insertion exon 1 RISN_NYX:c.620_621ins9 NYX:c.620_621ins9 RISN insertion exon 1 RISN_NYX:c.627_628ins9 NYX:c.627_628ins9 RISN insertion exon 1 RISN_NYX:c.638T>A NYX:c.638T>A RISN substitution exon 1 RISN_NYX:c.647A>T NYX:c.647A>T RISN substitution exon 1 RISN_NYX:c.695T>C NYX:c.695T>C RISN substitution exon 1 RISN_NYX:c.727_738del NYX:c.727_738del RISN deletion exon 1 RISN_NYX:c.792C>G NYX:c.792C>G RISN substitution exon 1 RISN_NYX:c.854T>C NYX:c.854T>C RISN substitution exon 1 RISN_NYX:c.893T>C NYX:c.893T>C RISN substitution exon 1 RISN_NYX:c.935A>G NYX:c.935A>G RISN substitution exon 1 RISN_NYX:c.1040T>C NYX:c.1040T>C RISN substitution exon 1 RISN_NYX:c.1049G>A NYX:c.1049G>A RISN substitution exon 1 RISN_NYX:c.1109G>T NYX:c.1109G>T RISN substitution exon 1 RISN_BBS4:c.157-2A>G XM_027370.3(BBS4):c.157-2A>G RISN substitution intron 1 RISN_BBS4:p.Asn165His XM_027370.3(BBS4):p.Asn165His RISN substitution exon 1 RISN_BBS4:p.Ser457Ile XM_027370.3(BBS4):p.Ser457Ile RISN substitution exon 1 RISN_BBS4:c.52_195del XM_027370.3(BBS4):c.52_195del RISN deletion not within known transcription unit 1 RISN_BBS4:c.220+1G>C XM_027370.3(BBS4):c.220+1G>C RISN substitution intron 1 RISN_BBS4:c.460-2A>C XM_027370.3(BBS4):c.460-2A>C RISN substitution intron 1 RISN_BBS4:c.584_585insTG XM_027370.3(BBS4):c.584_585insTG RISN insertion exon 1 RISN_BBS4:c.884G>C XM_027370.3(BBS4):c.884G>C RISN substitution exon 1 RISN_BBS4:c.24+42G>A XM_027370.3(BBS4):c.24+42G>A RISN substitution intron 1 RISN_BBS4:c.77-6A>G XM_027370.3(BBS4):c.77-6A>G RISN substitution intron 1 RISN_BBS4:c.220+91G>A XM_027370.3(BBS4):c.220+91G>A RISN substitution intron 1 RISN_BBS4:c.332+27_332+28insA XM_027370.3(BBS4):c.332+27_332+28insA RISN insertion intron 1 RISN_BBS4:c.405+17C>T XM_027370.3(BBS4):c.405+17C>T RISN substitution intron 1 RISN_BBS4:c.1106+20C>T XM_027370.3(BBS4):c.1106+20C>T RISN substitution intron 1 RISN_BBS4:c.1450+18C>T XM_027370.3(BBS4):c.1450+18C>T RISN substitution intron 1 RISN_BBS4:c.1451-45C>T XM_027370.3(BBS4):c.1451-45C>T RISN substitution intron 1 RISN_BBS4:c.-17C>A XM_027370.3(BBS4):c.-17C>A RISN substitution 5' UTR 1 RISN_BBS4:c.1061T>C XM_027370.3(BBS4):c.1061T>C RISN substitution exon 1 RISN_BBS4:c.1560*1G>C XM_027370.3(BBS4):c.1560*1G>C RISN substitution exon 1 RISN_VMD2:c.16A>C VMD2:c.16A>C RISN substitution exon 1 RISN_VMD2:c.17C>G VMD2:c.17C>G RISN substitution exon 1 RISN_VMD2:c.25G>A VMD2:c.25G>A RISN substitution exon 1 RISN_VMD2:c.26T>C VMD2:c.26T>C RISN substitution exon 1 RISN_VMD2:c.28G>A VMD2:c.28G>A RISN substitution exon 1 RISN_VMD2:c.29C>T VMD2:c.29C>T RISN substitution exon 1 RISN_VMD2:c.32A>T VMD2:c.32A>T RISN substitution exon 1 RISN_VMD2:c.38G>A VMD2:c.38G>A RISN substitution exon 1 RISN_VMD2:c.47C>T VMD2:c.47C>T RISN substitution exon 1 RISN_VMD2:c.50T>G VMD2:c.50T>G RISN substitution exon 1 RISN_VMD2:c.61C>G VMD2:c.61C>G RISN substitution exon 1 RISN_VMD2:c.72G>T VMD2:c.72G>T RISN substitution exon 1 RISN_VMD2:c.73C>T VMD2:c.73C>T RISN substitution exon 1 RISN_VMD2:c.74G>A VMD2:c.74G>A RISN substitution exon 1 RISN_VMD2:c.81C>G VMD2:c.81C>G RISN substitution exon 1 RISN_VMD2:c.85T>C VMD2:c.85T>C RISN substitution exon 1 RISN_VMD2:c.89A>G VMD2:c.89A>G RISN substitution exon 1 RISN_VMD2:c.122T>C VMD2:c.122T>C RISN substitution exon 1 RISN_VMD2:c.176A>T VMD2:c.176A>T RISN substitution exon 1 RISN_VMD2:c.217A>C VMD2:c.217A>C RISN substitution exon 1 RISN_VMD2:c.240C>A VMD2:c.240C>A RISN substitution exon 1 RISN_VMD2:c.243G>C VMD2:c.243G>C RISN substitution exon 1 RISN_VMD2:c.253T>C VMD2:c.253T>C RISN substitution exon 1 RISN_VMD2:c.272C>T VMD2:c.272C>T RISN substitution exon 1 RISN_VMD2:c.274C>T VMD2:c.274C>T RISN substitution exon 1 RISN_VMD2:c.274C>A VMD2:c.274C>A RISN substitution exon 1 RISN_VMD2:c.275G>A VMD2:c.275G>A RISN substitution exon 1 RISN_VMD2:c.279G>C VMD2:c.279G>C RISN substitution exon 1 RISN_VMD2:c.288G>C VMD2:c.288G>C RISN substitution exon 1 RISN_VMD2:c.297C>A VMD2:c.297C>A RISN substitution exon 1 RISN_VMD2:c.299T>G VMD2:c.299T>G RISN substitution exon 1 RISN_VMD2:c.301C>A VMD2:c.301C>A RISN substitution exon 1 RISN_VMD2:c.304T>C VMD2:c.304T>C RISN substitution exon 1 RISN_VMD2:c.310G>C VMD2:c.310G>C RISN substitution exon 1 RISN_VMD2:c.312C>A VMD2:c.312C>A RISN substitution exon 1 RISN_VMD2:c.399C>G VMD2:c.399C>G RISN substitution exon 1 RISN_VMD2:c.403G>A VMD2:c.403G>A RISN substitution exon 1 RISN_VMD2:c.419T>G VMD2:c.419T>G RISN substitution exon 1 RISN_VMD2:c.421C>A VMD2:c.421C>A RISN substitution exon 1 RISN_VMD2:c.422G>A VMD2:c.422G>A RISN substitution exon 1 RISN_VMD2:c.584C>T VMD2:c.584C>T RISN substitution exon 1 RISN_VMD2:c.602T>C VMD2:c.602T>C RISN substitution exon 1 RISN_VMD2:c.619C>A VMD2:c.619C>A RISN substitution exon 1 RISN_VMD2:c.626G>A VMD2:c.626G>A RISN substitution exon 1 RISN_VMD2:c.636+1G>C VMD2:c.636+1G>C RISN substitution intron 1 RISN_VMD2:c.652C>A VMD2:c.652C>A RISN substitution exon 1 RISN_VMD2:c.652C>T VMD2:c.652C>T RISN substitution exon 1 RISN_VMD2:c.653G>A VMD2:c.653G>A RISN substitution exon 1 RISN_VMD2:c.663T>G VMD2:c.663T>G RISN substitution exon 1 RISN_VMD2:c.665G>T VMD2:c.665G>T RISN substitution exon 1 RISN_VMD2:c.670C>A VMD2:c.670C>A RISN substitution exon 1 RISN_VMD2:c.671T>C VMD2:c.671T>C RISN substitution exon 1 RISN_VMD2:c.679T>A VMD2:c.679T>A RISN substitution exon 1 RISN_VMD2:c.680A>G VMD2:c.680A>G RISN substitution exon 1 RISN_VMD2:c.693T>G VMD2:c.693T>G RISN substitution exon 1 RISN_VMD2:c.703G>C VMD2:c.703G>C RISN substitution exon 1 RISN_VMD2:c.703G>A VMD2:c.703G>A RISN substitution exon 1 RISN_VMD2:c.710C>G VMD2:c.710C>G RISN substitution exon 1 RISN_VMD2:c.722C>A VMD2:c.722C>A RISN substitution exon 1 RISN_VMD2:c.727G>A VMD2:c.727G>A RISN substitution exon 1 RISN_VMD2:c.728C>T VMD2:c.728C>T RISN substitution exon 1 RISN_VMD2:c.828C>G VMD2:c.828C>G RISN substitution exon 1 RISN_VMD2:c.841_843delTTC VMD2:c.841_843delTTC RISN deletion exon 1 RISN_VMD2:c.877C>A VMD2:c.877C>A RISN substitution exon 1 RISN_VMD2:c.880C>G VMD2:c.880C>G RISN substitution exon 1 RISN_VMD2:c.881_883delTCA VMD2:c.881_883delTCA RISN deletion exon 1 RISN_VMD2:c.884T>C VMD2:c.884T>C RISN substitution exon 1 RISN_VMD2:c.886A>C VMD2:c.886A>C RISN substitution exon 1 RISN_VMD2:c.887A>G VMD2:c.887A>G RISN substitution exon 1 RISN_VMD2:c.889C>G VMD2:c.889C>G RISN substitution exon 1 RISN_VMD2:c.891C>T VMD2:c.891C>T RISN substitution exon 1 RISN_VMD2:c.893T>C VMD2:c.893T>C RISN substitution exon 1 RISN_VMD2:c.896G>A VMD2:c.896G>A RISN substitution exon 1 RISN_VMD2:c.898G>A VMD2:c.898G>A RISN substitution exon 1 RISN_VMD2:c.900G>C VMD2:c.900G>C RISN substitution exon 1 RISN_VMD2:c.901G>A VMD2:c.901G>A RISN substitution exon 1 RISN_VMD2:c.901_903delGAT VMD2:c.901_903delGAT RISN deletion exon 1 RISN_VMD2:c.903T>G VMD2:c.903T>G RISN substitution exon 1 RISN_VMD2:c.904G>C VMD2:c.904G>C RISN substitution exon 1 RISN_VMD2:c.905A>T VMD2:c.905A>T RISN substitution exon 1 RISN_VMD2:c.905A>G VMD2:c.905A>G RISN substitution exon 1 RISN_VMD2:c.909T>A VMD2:c.909T>A RISN substitution exon 1 RISN_VMD2:c.914T>C VMD2:c.914T>C RISN substitution exon 1 RISN_VMD2:c.917A>G VMD2:c.917A>G RISN substitution exon 1 RISN_VMD2:c.918G>C VMD2:c.918G>C RISN substitution exon 1 RISN_VMD2:c.919A>G VMD2:c.919A>G RISN substitution exon 1 RISN_VMD2:c.920C>T VMD2:c.920C>T RISN substitution exon 1 RISN_VMD2:c.923A>G VMD2:c.923A>G RISN substitution exon 1 RISN_VMD2:c.929T>C VMD2:c.929T>C RISN substitution exon 1 RISN_VMD2:c.1468_1469delCA VMD2:c.1468_1469delCA RISN deletion exon 1 RISN_VMD2:c.313C>T VMD2:c.313C>T RISN substitution exon 1 RISN_VMD2:c.355G>C VMD2:c.355G>C RISN substitution exon 1 RISN_VMD2:c.445A>T VMD2:c.445A>T RISN substitution exon 1 RISN_VMD2:c.647C>T VMD2:c.647C>T RISN substitution exon 1 RISN_VMD2:c.823G>A VMD2:c.823G>A RISN substitution exon 1 RISN_VMD2:c.1699C>T VMD2:c.1699C>T RISN substitution exon 1 RISN_VMD2:c.140G>A VMD2:c.140G>A RISN substitution exon 1 RISN_VMD2:c.436_437delinsAA VMD2:c.436_437delinsAA RISN complex exon 1 RISN_VMD2:c.934G>A VMD2:c.934G>A RISN substitution exon 1 RISN_VMD2:c.933C>T VMD2:c.933C>T RISN substitution exon 1 RISN_VMD2:c.33T>C VMD2:c.33T>C RISN substitution exon 1 RISN_VMD2:c.87C>T VMD2:c.87C>T RISN substitution exon 1 RISN_VMD2:c.109T>C VMD2:c.109T>C RISN substitution exon 1 RISN_VMD2:c.165G>A VMD2:c.165G>A RISN substitution exon 1 RISN_VMD2:c.201G>C VMD2:c.201G>C RISN substitution exon 1 RISN_VMD2:c.219C>A VMD2:c.219C>A RISN substitution exon 1 RISN_VMD2:c.222G>A VMD2:c.222G>A RISN substitution exon 1 RISN_VMD2:c.248-12C>T VMD2:c.248-12C>T RISN substitution intron 1 RISN_VMD2:c.248-32C>T VMD2:c.248-32C>T RISN substitution intron 1 RISN_VMD2:c.248-17C>T VMD2:c.248-17C>T RISN substitution intron 1 RISN_VMD2:c.248-26C>T VMD2:c.248-26C>T RISN substitution intron 1 RISN_VMD2:c.482-24C>T VMD2:c.482-24C>T RISN substitution intron 1 RISN_VMD2:c.624G>A VMD2:c.624G>A RISN substitution exon 1 RISN_VMD2:c.637-6C>T VMD2:c.637-6C>T RISN substitution intron 1 RISN_VMD2:c.654T>C VMD2:c.654T>C RISN substitution exon 1 RISN_VMD2:c.696C>A VMD2:c.696C>A RISN substitution exon 1 RISN_VMD2:c.715-27TCC[5] VMD2:c.715-27TCC[5]#insertion in reference# RISN complex intron 1 RISN_VMD2:c.715-26_715-27insTCC VMD2:c.715-26_715-27insTCC#insertion in reference# RISN insertion intron 1 RISN_VMD2:c.715-27TCC[6] VMD2:c.715-27TCC[6]#insertion in reference# RISN complex intron 1 RISN_VMD2:c.720G>C VMD2:c.720G>C RISN substitution exon 1 RISN_VMD2:c.949-21delT VMD2:c.949-21delT RISN deletion intron 1 RISN_VMD2:c.1023C>T VMD2:c.1023C>T RISN substitution exon 1 RISN_VMD2:c.1026G>A VMD2:c.1026G>A RISN substitution exon 1 RISN_VMD2:c.1410A>G VMD2:c.1410A>G RISN substitution exon 1 RISN_VMD2:c.1557C>T VMD2:c.1557C>T RISN substitution exon 1 RISN_VMD2:c.1574A>C VMD2:c.1574A>C RISN substitution exon 1 RISN_VMD2:c.1608T>C VMD2:c.1608T>C RISN substitution exon 1 RISN_VMD2:c.1669G>A VMD2:c.1669G>A RISN substitution exon 1 RISN_VMD2:c.1681A>G VMD2:c.1681A>G RISN substitution exon 1 RISN_VMD2:c.1740-27T>C VMD2:c.1740-27T>C RISN substitution intron 1 RISN_VMD2:c.1846_1847insG VMD2:c.1846_1847insG RISN insertion 3' UTR 1 RISN_BBS2:c.507+1G>C AF342736.1(BBS2):c.507+1G>C RISN substitution intron 1 RISN_BBS2:p.Tyr24X AF342736.1(BBS2):p.Tyr24X RISN substitution exon 1 RISN_BBS2:p.Arg643Pro AF342736.1(BBS2):p.Arg643Pro RISN substitution exon 1 RISN_BBS2:c.224T>G AF342736.1(BBS2):c.224T>G RISN substitution exon 1 RISN_BBS2:c.814C>T AF342736.1(BBS2):c.814C>T RISN substitution exon 1 RISN_BBS2:c.823C>T AF342736.1(BBS2):c.823C>T RISN substitution exon 1 RISN_BBS2:c.940delA AF342736.1(BBS2):c.940delA RISN deletion exon 1 RISN_BBS2:c.1206dupA AF342736.1(BBS2):c.1206dupA RISN duplication exon 1 RISN_BBS2:c.1413A>C AF342736.1(BBS2):c.1413A>C RISN substitution exon 1 RISN_CEP290:c.21G>T CEP290:c.21G>T RISN substitution exon 1 RISN_CEP290:c.3175dupA CEP290:c.3175dupA RISN duplication exon 1 RISN_CEP290:c.3176dupT CEP290:c.3176dupT RISN duplication exon 1 RISN_CEP290:c.4656delA CEP290:c.4656delA RISN deletion exon 1 RISN_CEP290:c.4732G>T CEP290:c.4732G>T RISN substitution exon 1 RISN_CEP290:c.4771C>T CEP290:c.4771C>T RISN substitution exon 1 RISN_CEP290:c.5424T>C CEP290:c.5424T>C RISN substitution exon 1 RISN_CEP290:c.5515_5518delGAGA CEP290:c.5515_5518delGAGA RISN deletion exon 1 RISN_CEP290:c.5649dupA CEP290:c.5649dupA RISN duplication exon 1 RISN_CEP290:c.5668G>T CEP290:c.5668G>T RISN substitution exon 1 RISN_CEP290:c.6331C>T CEP290:c.6331C>T RISN substitution exon 1 RISN_CEP290:c.7341dupA CEP290:c.7341dupA RISN duplication exon 1 RISN_CEP290:c.181-1G>T CEP290:c.181-1G>T RISN substitution intron 1 RISN_CEP290:c.265dupA CEP290:c.265dupA RISN duplication exon 1 RISN_CEP290:c.679_680delGA CEP290:c.679_680delGA RISN deletion exon 1 RISN_CEP290:c.1550delT CEP290:c.1550delT RISN deletion exon 1 RISN_CEP290:c.2118_2122dupTCAGC CEP290:c.2118_2122dupTCAGC RISN duplication exon 1 RISN_CEP290:c.2991+1655A>G CEP290:c.2991+1655A>G RISN substitution intron 1 RISN_CEP290:c.3814C>T CEP290:c.3814C>T RISN substitution exon 1 RISN_CEP290:c.4115_4116delTA CEP290:c.4115_4116delTA RISN deletion exon 1 RISN_CEP290:c.4966G>T CEP290:c.4966G>T RISN substitution exon 1 RISN_CEP290:c.5813_5817delCTTTA CEP290:c.5813_5817delCTTTA RISN deletion exon 1 RISN_CEP290:c.2055T>C CEP290:c.2055T>C RISN substitution exon 1 RISN_CEP290:c.2218-4_2222del CEP290:c.2218-4_2222del RISN deletion intron 1 RISN_RDH5:c.103G>A RDH5:c.103G>A RISN substitution exon 1 RISN_RDH5:c.128delT RDH5:c.128delT RISN deletion exon 1 RISN_RDH5:c.215_216insGTGG RDH5:c.215_216insGTGG RISN insertion exon 1 RISN_RDH5:c.218C>T RDH5:c.218C>T RISN substitution exon 1 RISN_RDH5:c.319G>C RDH5:c.319G>C RISN substitution exon 1 RISN_RDH5:c.394G>A RDH5:c.394G>A RISN substitution exon 1 RISN_RDH5:c.468C>T RDH5:c.468C>T RISN substitution exon 1 RISN_RDH5:c.501C>G RDH5:c.501C>G RISN substitution exon 1 RISN_RDH5:c.530T>G RDH5:c.530T>G RISN substitution exon 1 RISN_RDH5:c.712G>T RDH5:c.712G>T RISN substitution exon 1 RISN_RDH5:c.712dupG RDH5:c.712dupG RISN duplication exon 1 RISN_RDH5:c.839G>A RDH5:c.839G>A RISN substitution exon 1 RISN_RDH5:c.841T>C RDH5:c.841T>C RISN substitution exon 1 RISN_RDH5:c.880G>C RDH5:c.880G>C RISN substitution exon 1 RISN_RDH5:c.928_928delinsGAAG RDH5:c.928_928delinsGAAG RISN complex exon 1 RISN_RDH5:c.97A>G RDH5:c.97A>G RISN substitution exon 1 RISN_RDH5:c.423C>T RDH5:c.423C>T RISN substitution exon 1 RISN_RDH5:p.Val200Val RDH5:p.Val200Val RISN substitution exon 1 RISN_GRM6:c.19G>A GRM6:c.19G>A RISN substitution exon 1 RISN_GRM6:c.57_75dup GRM6:c.57_75dup RISN duplication exon 1 RISN_GRM6:c.83G>A GRM6:c.83G>A RISN substitution exon 1 RISN_GRM6:c.137C>T GRM6:c.137C>T RISN substitution exon 1 RISN_GRM6:c.172G>C GRM6:c.172G>C RISN substitution exon 1 RISN_GRM6:c.176A>C GRM6:c.176A>C RISN substitution exon 1 RISN_GRM6:c.261C>T GRM6:c.261C>T RISN substitution exon 1 RISN_GRM6:c.336C>T GRM6:c.336C>T RISN substitution exon 1 RISN_GRM6:c.352C>A GRM6:c.352C>A RISN substitution exon 1 RISN_GRM6:c.448G>A GRM6:c.448G>A RISN substitution exon 1 RISN_GRM6:c.504+66A>C GRM6:c.504+66A>C RISN substitution intron 1 RISN_GRM6:c.664G>A GRM6:c.664G>A RISN substitution exon 1 RISN_GRM6:c.686G>A GRM6:c.686G>A RISN substitution exon 1 RISN_GRM6:c.721+83G>T GRM6:c.721+83G>T RISN substitution intron 1 RISN_GRM6:c.727G>T GRM6:c.727G>T RISN substitution exon 1 RISN_GRM6:c.727_728insG GRM6:c.727_728insG RISN insertion exon 1 RISN_GRM6:c.733A>G GRM6:c.733A>G RISN substitution exon 1 RISN_GRM6:c.1131C>T GRM6:c.1131C>T RISN substitution exon 1 RISN_GRM6:c.1153+52_1153+53ins9 GRM6:c.1153+52_1153+53ins9 RISN insertion intron 1 RISN_GRM6:c.1227C>T GRM6:c.1227C>T RISN substitution exon 1 RISN_GRM6:c.1353T>C GRM6:c.1353T>C RISN substitution exon 1 RISN_GRM6:c.1392A>G GRM6:c.1392A>G RISN substitution exon 1 RISN_GRM6:c.1500+23A>G GRM6:c.1500+23A>G RISN substitution intron 1 RISN_GRM6:c.1565G>A GRM6:c.1565G>A RISN substitution exon 1 RISN_GRM6:c.1566C>T GRM6:c.1566C>T RISN substitution exon 1 RISN_GRM6:c.1732C>T GRM6:c.1732C>T RISN substitution exon 1 RISN_GRM6:c.1748C>T GRM6:c.1748C>T RISN substitution exon 1 RISN_GRM6:c.1766C>T GRM6:c.1766C>T RISN substitution exon 1 RISN_GRM6:c.1848C>T GRM6:c.1848C>T RISN substitution exon 1 RISN_GRM6:c.1861C>T GRM6:c.1861C>T RISN substitution exon 1 RISN_GRM6:c.1875C>T GRM6:c.1875C>T RISN substitution exon 1 RISN_GRM6:c.1887C>T GRM6:c.1887C>T RISN substitution exon 1 RISN_GRM6:c.1944G>T GRM6:c.1944G>T RISN substitution exon 1 RISN_GRM6:c.1953C>T GRM6:c.1953C>T RISN substitution exon 1 RISN_GRM6:c.1956C>T GRM6:c.1956C>T RISN substitution exon 1 RISN_GRM6:c.1958G>A GRM6:c.1958G>A RISN substitution exon 1 RISN_GRM6:c.2092C>G GRM6:c.2092C>G RISN substitution exon 1 RISN_GRM6:c.2122C>T GRM6:c.2122C>T RISN substitution exon 1 RISN_GRM6:c.2134A>G GRM6:c.2134A>G RISN substitution exon 1 RISN_GRM6:c.2196G>A GRM6:c.2196G>A RISN substitution exon 1 RISN_GRM6:c.2341G>A GRM6:c.2341G>A RISN substitution exon 1 RISN_GRM6:c.2397C>T GRM6:c.2397C>T RISN substitution exon 1 RISN_GRM6:c.2420C>T GRM6:c.2420C>T RISN substitution exon 1 RISN_GRM6:c.2436+46A>C GRM6:c.2436+46A>C RISN substitution intron 1 RISN_GRM6:c.2436+55G>A GRM6:c.2436+55G>A RISN substitution intron 1 RISN_GRM6:c.2437-6G>A GRM6:c.2437-6G>A RISN substitution intron 1 RISN_GRM6:c.2634*56A>C GRM6:c.2634*56A>C RISN substitution exon 1 RISN_RPGR:c.28+5G>A RPGR:c.28+5G>A RISN substitution intron 1 RISN_RPGR:c.28+1G>A RPGR:c.28+1G>A RISN substitution intron 1 RISN_RPGR:c.29-15A>G RPGR:c.29-15A>G RISN substitution intron 1 RISN_RPGR:c.97delA RPGR:c.97delA RISN deletion exon 1 RISN_RPGR:c.106G>T RPGR:c.106G>T RISN substitution exon 1 RISN_RPGR:c.127G>A RPGR:c.127G>A RISN substitution exon 1 RISN_RPGR:c.128G>A RPGR:c.128G>A RISN substitution exon 1 RISN_RPGR:c.141T>G RPGR:c.141T>G RISN substitution exon 1 RISN_RPGR:c.154G>T RPGR:c.154G>T RISN substitution exon 1 RISN_RPGR:c.155-2A>G RPGR:c.155-2A>G RISN substitution intron 1 RISN_RPGR:c.248-2A>G RPGR:c.248-2A>G RISN substitution intron 1 RISN_RPGR:c.179G>T RPGR:c.179G>T RISN substitution exon 1 RISN_RPGR:c.237_238delAT RPGR:c.237_238delAT RISN deletion exon 1 RISN_RPGR:c.248-6T>A RPGR:c.248-6T>A RISN substitution intron 1 RISN_RPGR:c.294C>A RPGR:c.294C>A RISN substitution exon 1 RISN_RPGR:c.296C>A RPGR:c.296C>A RISN substitution exon 1 RISN_RPGR:c.295_296insCA RPGR:c.295_296insCA RISN insertion exon 1 RISN_RPGR:c.310+1G>C RPGR:c.310+1G>C RISN substitution intron 1 RISN_RPGR:c.310+3A>G RPGR:c.310+3A>G RISN substitution intron 1 RISN_RPGR:c.355delT RPGR:c.355delT RISN deletion exon 1 RISN_RPGR:c.371delC RPGR:c.371delC RISN deletion exon 1 RISN_RPGR:c.379A>G RPGR:c.379A>G RISN substitution exon 1 RISN_RPGR:c.389T>G RPGR:c.389T>G RISN substitution exon 1 RISN_RPGR:c.415G>T RPGR:c.415G>T RISN substitution exon 1 RISN_RPGR:c.469+1G>A RPGR:c.469+1G>A RISN substitution intron 1 RISN_RPGR:c.482delT RPGR:c.482delT RISN deletion exon 1 RISN_RPGR:c.482_483delTT RPGR:c.482_483delTT RISN deletion exon 1 RISN_RPGR:c.492G>A RPGR:c.492G>A RISN substitution exon 1 RISN_RPGR:c.581G>A RPGR:c.581G>A RISN substitution exon 1 RISN_RPGR:c.605C>A RPGR:c.605C>A RISN substitution exon 1 RISN_RPGR:c.619+5G>A RPGR:c.619+5G>A RISN substitution intron 1 RISN_RPGR:c.620-41T>C RPGR:c.620-41T>C RISN substitution intron 1 RISN_RPGR:c.644G>T RPGR:c.644G>T RISN substitution exon 1 RISN_RPGR:c.703C>T RPGR:c.703C>T RISN substitution exon 1 RISN_RPGR:c.706C>T RPGR:c.706C>T RISN substitution exon 1 RISN_RPGR:c.730A>T RPGR:c.730A>T RISN substitution exon 1 RISN_RPGR:c.732G>A RPGR:c.732G>A RISN substitution exon 1 RISN_RPGR:c.747delC RPGR:c.747delC RISN deletion exon 1 RISN_RPGR:c.748T>C RPGR:c.748T>C RISN substitution exon 1 RISN_RPGR:c.750_751delTG RPGR:c.750_751delTG RISN deletion exon 1 RISN_RPGR:c.(?_779)_(1245_?)del RPGR:c.(?_779)_(1245_?)del RISN deletion not within known transcription unit 0 RISN_RPGR:c.(?_779)_(934_?)del RPGR:c.(?_779)_(934_?)del RISN deletion not within known transcription unit 0 RISN_RPGR:c.779-1G>A RPGR:c.779-1G>A RISN substitution intron 1 RISN_RPGR:c.778+5G>A RPGR:c.778+5G>A RISN substitution intron 1 RISN_RPGR:c.823G>A RPGR:c.823G>A RISN substitution exon 1 RISN_RPGR:c.833_836delCTTT RPGR:c.833_836delCTTT RISN deletion exon 1 RISN_RPGR:c.834delT RPGR:c.834delT RISN deletion exon 1 RISN_RPGR:c.834_835delTT RPGR:c.834_835delTT RISN deletion exon 1 RISN_RPGR:c.836_2209del RPGR:c.836_2209del RISN deletion exon 1 RISN_RPGR:c.865A>G RPGR:c.865A>G RISN substitution exon 1 RISN_RPGR:c.869delA RPGR:c.869delA RISN deletion exon 1 RISN_RPGR:c.886_900del RPGR:c.886_900del RISN deletion exon 1 RISN_RPGR:c.904T>C RPGR:c.904T>C RISN substitution exon 1 RISN_RPGR:c.905G>A RPGR:c.905G>A RISN substitution exon 1 RISN_RPGR:c.931A>G RPGR:c.931A>G RISN substitution exon 1 RISN_RPGR:c.934+1G>A RPGR:c.934+1G>A RISN substitution intron 1 RISN_RPGR:c.934+1G>C RPGR:c.934+1G>C RISN substitution intron 1 RISN_RPGR:c.958G>A RPGR:c.958G>A RISN substitution exon 1 RISN_RPGR:c.980T>G RPGR:c.980T>G RISN substitution exon 1 RISN_RPGR:c.994G>T RPGR:c.994G>T RISN substitution exon 1 RISN_RPGR:c.1033A>G RPGR:c.1033A>G RISN substitution exon 1 RISN_RPGR:c.1088dupT RPGR:c.1088dupT RISN duplication exon 1 RISN_RPGR:c.1099delC RPGR:c.1099delC RISN deletion exon 1 RISN_RPGR:c.1120G>T RPGR:c.1120G>T RISN substitution exon 1 RISN_RPGR:c.1164G>A RPGR:c.1164G>A RISN substitution exon 1 RISN_RPGR:c.1243_1244dupAG RPGR:c.1243_1244dupAG RISN duplication exon 1 RISN_RPGR:c.1245+3A>G RPGR:c.1245+3A>G RISN substitution intron 1 RISN_RPGR:c.1245+16A>G RPGR:c.1245+16A>G RISN substitution intron 1 RISN_RPGR:c.1261_1279del RPGR:c.1261_1279del RISN deletion exon 1 RISN_RPGR:c.1274G>A RPGR:c.1274G>A RISN substitution exon 1 RISN_RPGR:c.1291A>G RPGR:c.1291A>G RISN substitution exon 1 RISN_RPGR:c.1307G>A RPGR:c.1307G>A RISN substitution exon 1 RISN_RPGR:c.1376_1377delTC RPGR:c.1376_1377delTC RISN deletion exon 1 RISN_RPGR:c.1402_1405delCCAG RPGR:c.1402_1405delCCAG RISN deletion exon 1 RISN_RPGR:c.1476delC RPGR:c.1476delC RISN deletion exon 1 RISN_RPGR:c.1478T>A RPGR:c.1478T>A RISN substitution exon 1 RISN_RPGR:c.1507-101T>A RPGR:c.1507-101T>A RISN substitution intron 1 RISN_RPGR:c.1507-97T>C RPGR:c.1507-97T>C RISN substitution intron 1 RISN_RPGR:c.1507-104_1507-101delAAAT RPGR:c.1507-104_1507-101delAAAT RISN deletion intron 1 RISN_RPGR:c.1507-68T>C RPGR:c.1507-68T>C RISN substitution intron 1 RISN_RPGR:c.1508_1509delCA RPGR:c.1508_1509delCA RISN deletion exon 1 RISN_RPGR:c.1572+11A>G RPGR:c.1572+11A>G RISN substitution intron 1 RISN_RPGR:c.(?_1573)_(3459_?)del RPGR:c.(?_1573)_(3459_?)del RISN deletion not within known transcription unit 0 RISN_RPGR:c.1573-2A>G RPGR:c.1573-2A>G RISN substitution intron 1 RISN_RPGR:c.1573-1G>A RPGR:c.1573-1G>A RISN substitution intron 1 RISN_RPGR:c.1573-8A>G RPGR:c.1573-8A>G RISN substitution intron 1 RISN_RPGR:c.1575_1578delACAA RPGR:c.1575_1578delACAA RISN deletion exon 1 RISN_RPGR:c.1576_1578delCAA RPGR:c.1576_1578delCAA RISN deletion exon 1 RISN_RPGR:c.1598C>T RPGR:c.1598C>T RISN substitution exon 1 RISN_RPGR:c.1697G>A RPGR:c.1697G>A RISN substitution exon 1 RISN_RPGR:c.1747G>T RPGR:c.1747G>T RISN substitution exon 1 RISN_RPGR:c.1832dupA RPGR:c.1832dupA RISN duplication exon 1 RISN_RPGR:c.2008C>T RPGR:c.2008C>T RISN substitution exon 1 RISN_RPGR:c.2055A>G RPGR:c.2055A>G RISN substitution exon 1 RISN_RPGR:c.2080A>T RPGR:c.2080A>T RISN substitution exon 1 RISN_RPGR:c.2106_2109delGAAG RPGR:c.2106_2109delGAAG RISN deletion exon 1 RISN_RPGR:c.2109_2110ins4 RPGR:c.2109_2110ins4 RISN insertion exon 1 RISN_RPGR:c.2144_2216dup RPGR:c.2144_2216dup RISN duplication exon 1 RISN_RPGR:c.2218G>T RPGR:c.2218G>T RISN substitution exon 1 RISN_RPGR:c.2223G>A RPGR:c.2223G>A RISN substitution exon 1 RISN_RPGR:c.2226G>A RPGR:c.2226G>A RISN substitution exon 1 RISN_RPGR:c.2239_2240delGA RPGR:c.2239_2240delGA RISN deletion exon 1 RISN_RPGR:c.2245G>T RPGR:c.2245G>T RISN substitution exon 1 RISN_RPGR:c.2259A>T RPGR:c.2259A>T RISN substitution exon 1 RISN_RPGR:c.2260G>T RPGR:c.2260G>T RISN substitution exon 1 RISN_RPGR:c.2269_2270delGA RPGR:c.2269_2270delGA RISN deletion exon 1 RISN_RPGR:c.2311delG RPGR:c.2311delG RISN deletion exon 1 RISN_RPGR:c.2317_2318ins14 RPGR:c.2317_2318ins14 RISN insertion exon 1 RISN_RPGR:c.2320_2321delGA RPGR:c.2320_2321delGA RISN deletion exon 1 RISN_RPGR:c.2340A>G RPGR:c.2340A>G RISN substitution exon 1 RISN_RPGR:c.2342C>A RPGR:c.2342C>A RISN substitution exon 1 RISN_RPGR:c.2356_2357delAA RPGR:c.2356_2357delAA RISN deletion exon 1 RISN_RPGR:c.2357_2375del RPGR:c.2357_2375del RISN deletion exon 1 RISN_RPGR:c.2400_2401delAA RPGR:c.2400_2401delAA RISN deletion exon 1 RISN_RPGR:c.2403_2406delAGAG RPGR:c.2403_2406delAGAG RISN deletion exon 1 RISN_RPGR:c.2405_2406delAG RPGR:c.2405_2406delAG RISN deletion exon 1 RISN_RPGR:c.2412_2413delAG RPGR:c.2412_2413delAG RISN deletion exon 1 RISN_RPGR:c.2426_2427delAG RPGR:c.2426_2427delAG RISN deletion exon 1 RISN_RPGR:c.2442_2445delAGAG RPGR:c.2442_2445delAGAG RISN deletion exon 1 RISN_RPGR:c.2447_2461del RPGR:c.2447_2461del RISN deletion exon 1 RISN_RPGR:c.2496dupG RPGR:c.2496dupG RISN duplication exon 1 RISN_RPGR:c.2522delA RPGR:c.2522delA RISN deletion exon 1 RISN_RPGR:c.2541_2561del RPGR:c.2541_2561del RISN deletion exon 1 RISN_RPGR:c.2557G>T RPGR:c.2557G>T RISN substitution exon 1 RISN_RPGR:c.2584_2585delGG RPGR:c.2584_2585delGG RISN deletion exon 1 RISN_RPGR:c.2605_2619del RPGR:c.2605_2619del RISN deletion exon 1 RISN_RPGR:c.2611_2612dupGG RPGR:c.2611_2612dupGG RISN duplication exon 1 RISN_RPGR:c.2625_2626insA RPGR:c.2625_2626insA RISN insertion exon 1 RISN_RPGR:c.2650G>T RPGR:c.2650G>T RISN substitution exon 1 RISN_RPGR:c.2667_2669delGGA RPGR:c.2667_2669delGGA RISN deletion exon 1 RISN_RPGR:c.2728_2729delGG RPGR:c.2728_2729delGG RISN deletion exon 1 RISN_RPGR:c.2761_2762delGG RPGR:c.2761_2762delGG RISN deletion exon 1 RISN_RPGR:c.2820_2840dup RPGR:c.2820_2840dup RISN duplication exon 1 RISN_RPGR:c.2894delA RPGR:c.2894delA RISN deletion exon 1 RISN_RPGR:c.2925_2945dup RPGR:c.2925_2945dup RISN duplication exon 1 RISN_RPGR:c.2992_2996delGAAGG RPGR:c.2992_2996delGAAGG RISN deletion exon 1 RISN_RPGR:c.3072_3083del RPGR:c.3072_3083del RISN deletion exon 1 RISN_RPGR:c.3086_3097del RPGR:c.3086_3097del RISN deletion exon 1 RISN_RPGR:c.3101_3102delAG RPGR:c.3101_3102delAG RISN deletion exon 1 RISN_RPGR:c.3102delA RPGR:c.3102delA RISN deletion exon 1 RISN_RPGR:c.3105delG RPGR:c.3105delG RISN deletion exon 1 RISN_RPGR:c.3231T>C RPGR:c.3231T>C RISN substitution exon 1 RISN_RPGR:c.3243T>A RPGR:c.3243T>A RISN substitution exon 1 RISN_RPGR:c.3246A>G RPGR:c.3246A>G RISN substitution exon 1 RISN_RPGR:c.3322_3323insA RPGR:c.3322_3323insA RISN insertion exon 1 RISN_RPGR:c.3408T>C RPGR:c.3408T>C RISN substitution exon 1 RISN_BBS1:c.432+1G>A AF503941.1(BBS1):c.432+1G>A RISN substitution intron 1 RISN_BBS1:c.851delA AF503941.1(BBS1):c.851delA RISN deletion exon 1 RISN_BBS1:c.1169T>G AF503941.1(BBS1):c.1169T>G RISN substitution exon 1 RISN_BBS1:c.1655T>G AF503941.1(BBS1):c.1655T>G RISN substitution exon 1 RISN_OA1:c.13C>T OA1:c.13C>T RISN substitution exon 1 RISN_OA1:c.104G>A OA1:c.104G>A RISN substitution exon 1 RISN_OA1:c.116T>G OA1:c.116T>G RISN substitution exon 1 RISN_OA1:c.151_157del OA1:c.151_157del RISN deletion exon 1 RISN_OA1:c.165_193del OA1:c.165_193del RISN deletion exon 1 RISN_OA1:c.174_175insC OA1:c.174_175insC RISN insertion exon 1 RISN_OA1:c.175delT OA1:c.175delT RISN deletion exon 1 RISN_OA1:c.215_231del OA1:c.215_231del RISN deletion exon 1 RISN_OA1:c.232G>A OA1:c.232G>A RISN substitution exon 1 RISN_OA1:c.233A>T OA1:c.233A>T RISN substitution exon 1 RISN_OA1:c.250G>C OA1:c.250G>C RISN substitution exon 1 RISN_OA1:c.(?_251)_(360_?)del OA1:c.(?_251)_(360_?)del RISN deletion not within known transcription unit 0 RISN_OA1:c.(?_251)_(1120_?)del OA1:c.(?_251)_(1120_?)del RISN deletion not within known transcription unit 0 RISN_OA1:c.251G>A OA1:c.251G>A RISN substitution exon 1 RISN_OA1:c.251-1G>C OA1:c.251-1G>C RISN substitution intron 1 RISN_OA1:c.310delG OA1:c.310delG RISN deletion exon 1 RISN_OA1:c.347G>C OA1:c.347G>C RISN substitution exon 1 RISN_OA1:c.346T>C OA1:c.346T>C RISN substitution exon 1 RISN_OA1:c.353G>A OA1:c.353G>A RISN substitution exon 1 RISN_OA1:c.360G>A OA1:c.360G>A RISN substitution exon 1 RISN_OA1:c.360+5G>C OA1:c.360+5G>C RISN substitution intron 1 RISN_OA1:c.360+13C>G OA1:c.360+13C>G RISN substitution intron 1 RISN_OA1:c.(?_361)_(455_?)del OA1:c.(?_361)_(455_?)del RISN deletion not within known transcription unit 0 RISN_OA1:c.371A>G OA1:c.371A>G RISN substitution exon 1 RISN_OA1:c.397T>A OA1:c.397T>A RISN substitution exon 1 RISN_OA1:c.397T>C OA1:c.397T>C RISN substitution exon 1 RISN_OA1:c.402delG OA1:c.402delG RISN deletion exon 1 RISN_OA1:c.413C>T OA1:c.413C>T RISN substitution exon 1 RISN_OA1:c.444_445insAGATCGG OA1:c.444_445insAGATCGG RISN insertion exon 1 RISN_OA1:c.455G>A OA1:c.455G>A RISN substitution exon 1 RISN_OA1:c.455+1G>C OA1:c.455+1G>C RISN substitution intron 1 RISN_OA1:c.(?_456)_(658_?)del OA1:c.(?_456)_(658_?)del RISN deletion not within known transcription unit 0 RISN_OA1:c.(?_456)_(548_?)del OA1:c.(?_456)_(548_?)del RISN deletion not within known transcription unit 0 RISN_OA1:c.518C>A OA1:c.518C>A RISN substitution exon 1 RISN_OA1:c.676delG OA1:c.676delG RISN deletion exon 1 RISN_OA1:c.686G>T OA1:c.686G>T RISN substitution exon 1 RISN_OA1:c.695C>A OA1:c.695C>A RISN substitution exon 1 RISN_OA1:c.697G>A OA1:c.697G>A RISN substitution exon 1 RISN_OA1:c.705G>A OA1:c.705G>A RISN substitution exon 1 RISN_OA1:c.730A>G OA1:c.730A>G RISN substitution exon 1 RISN_OA1:c.754_767del OA1:c.754_767del RISN deletion exon 1 RISN_OA1:c.779A>T OA1:c.779A>T RISN substitution exon 1 RISN_OA1:c.812A>G OA1:c.812A>G RISN substitution exon 1 RISN_OA1:c.885+1G>A OA1:c.885+1G>A RISN substitution intron 1 RISN_OA1:c.868_870delACC OA1:c.868_870delACC RISN deletion exon 1 RISN_OA1:c.874T>G OA1:c.874T>G RISN substitution exon 1 RISN_OA1:c.876G>T OA1:c.876G>T RISN substitution exon 1 RISN_OA1:c.876G>A OA1:c.876G>A RISN substitution exon 1 RISN_OA1:c.931_932insCG OA1:c.931_932insCG RISN insertion exon 1 RISN_OA1:c.1215*194C>T OA1:c.1215*194C>T RISN substitution 3' UTR 1 RISN_CRB1:c.478dupG CRB1:c.478dupG RISN duplication exon 1 RISN_CRB1:c.2882_2884delTAT CRB1:c.2882_2884delTAT RISN deletion exon 1 RISN_CRB1:c.3961T>A CRB1:c.3961T>A RISN substitution exon 1 RISN_CRB1:c.3961_3970del CRB1:c.3961_3970del RISN deletion exon 1 RISN_CRB1:c.482C>T CRB1:c.482C>T RISN substitution exon 1 RISN_CRB1:c.750T>G CRB1:c.750T>G RISN substitution exon 1 RISN_CRB1:c.1208C>G CRB1:c.1208C>G RISN substitution exon 1 RISN_CRB1:c.2234C>T CRB1:c.2234C>T RISN substitution exon 1 RISN_CRB1:c.2244_2246delATC CRB1:c.2244_2246delATC RISN deletion exon 1 RISN_CRB1:c.2290C>T CRB1:c.2290C>T RISN substitution exon 1 RISN_CRB1:c.2842T>A CRB1:c.2842T>A RISN substitution exon 1 RISN_CRB1:c.2843G>A CRB1:c.2843G>A RISN substitution exon 1 RISN_CRB1:c.2983G>T CRB1:c.2983G>T RISN substitution exon 1 RISN_CRB1:c.3122T>C CRB1:c.3122T>C RISN substitution exon 1 RISN_CRB1:c.3212T>C CRB1:c.3212T>C RISN substitution exon 1 RISN_CRB1:c.2671T>G CRB1:c.2671T>G RISN substitution exon 1 RISN_CRB1:c.3299T>C CRB1:c.3299T>C RISN substitution exon 1 RISN_CRB1:c.614T>C CRB1:c.614T>C RISN substitution exon 1 RISN_CRB1:c.111delT CRB1:c.111delT RISN deletion exon 1 RISN_CRB1:c.257_258insGT CRB1:c.257_258insGT RISN insertion exon 1 RISN_CRB1:c.428_432del CRB1:c.428_432del RISN deletion exon 1 RISN_CRB1:c.430T>G CRB1:c.430T>G RISN substitution exon 1 RISN_CRB1:c.611_617del CRB1:c.611_617del RISN deletion exon 1 RISN_CRB1:c.613_619del CRB1:c.613_619del RISN deletion exon 1 RISN_CRB1:c.616_621del CRB1:c.616_621del RISN deletion exon 1 RISN_CRB1:c.866C>T CRB1:c.866C>T RISN substitution exon 1 RISN_CRB1:c.1148G>A CRB1:c.1148G>A RISN substitution exon 1 RISN_CRB1:c.1438T>C CRB1:c.1438T>C RISN substitution exon 1 RISN_CRB1:c.1439G>A CRB1:c.1439G>A RISN substitution exon 1 RISN_CRB1:c.2042G>A CRB1:c.2042G>A RISN substitution exon 1 RISN_CRB1:c.2128G>C CRB1:c.2128G>C RISN substitution exon 1 RISN_CRB1:c.2222T>C CRB1:c.2222T>C RISN substitution exon 1 RISN_CRB1:c.2441T>A CRB1:c.2441T>A RISN substitution exon 1 RISN_CRB1:c.2479G>T CRB1:c.2479G>T RISN substitution exon 1 RISN_CRB1:c.2548_2551del CRB1:c.2548_2551del RISN deletion exon 1 RISN_CRB1:c.2555T>C CRB1:c.2555T>C RISN substitution exon 1 RISN_CRB1:c.2613dupT CRB1:c.2613dupT RISN duplication exon 1 RISN_CRB1:c.2688T>A CRB1:c.2688T>A RISN substitution exon 1 RISN_CRB1:c.2853dupT CRB1:c.2853dupT RISN duplication exon 1 RISN_CRB1:c.3074G>T CRB1:c.3074G>T RISN substitution exon 1 RISN_CRB1:c.3299T>G CRB1:c.3299T>G RISN substitution exon 1 RISN_CRB1:c.3307G>A CRB1:c.3307G>A RISN substitution exon 1 RISN_CRB1:c.3320T>C CRB1:c.3320T>C RISN substitution exon 1 RISN_CRB1:c.3320T>G CRB1:c.3320T>G RISN substitution exon 1 RISN_CRB1:c.3331G>T CRB1:c.3331G>T RISN substitution exon 1 RISN_CRB1:c.3345delT CRB1:c.3345delT RISN deletion exon 1 RISN_CRB1:c.3614G>A CRB1:c.3614G>A RISN substitution exon 1 RISN_CRB1:c.3879G>A CRB1:c.3879G>A RISN substitution exon 1 RISN_CRB1:c.3949A>C CRB1:c.3949A>C RISN substitution exon 1 RISN_CRB1:c.4118_4127del CRB1:c.4118_4127del RISN deletion exon 1 RISN_CRB1:c.1410A>G CRB1:c.1410A>G RISN substitution exon 1 RISN_CRB1:c.1428C>T CRB1:c.1428C>T RISN substitution exon 1 RISN_CRB1:c.1647T>C CRB1:c.1647T>C RISN substitution exon 1 RISN_CRB1:c.2823G>A CRB1:c.2823G>A RISN substitution exon 1 RISN_CRB1:c.3171C>T CRB1:c.3171C>T RISN substitution exon 1 RISN_CRB1:c.3992G>A CRB1:c.3992G>A RISN substitution exon 1 RISN_CRB1:c.2035C>G CRB1:c.2035C>G RISN substitution exon 1 RISN_CRB1:c.2306G>A CRB1:c.2306G>A RISN substitution exon 1 RISN_CRB1:c.1298A>G CRB1:c.1298A>G RISN substitution exon 1 RISN_CRB1:c.2509G>C CRB1:c.2509G>C RISN substitution exon 1 RISN_CRB1:c.2681A>G CRB1:c.2681A>G RISN substitution exon 1 RISN_CRB1:c.3541T>C CRB1:c.3541T>C RISN substitution exon 1 RISN_TULP1:c.99+1G>A TULP1:c.99+1G>A RISN substitution intron 1 RISN_TULP1:c.350-2_350delAGA TULP1:c.350-2_350delAGA RISN deletion intron 1 RISN_TULP1:c.897delC TULP1:c.897delC RISN deletion exon 1 RISN_TULP1:c.1265C>G TULP1:c.1265C>G RISN substitution exon 1 RISN_TULP1:c.1381C>A TULP1:c.1381C>A RISN substitution exon 1 RISN_TULP1:c.1466A>G TULP1:c.1466A>G RISN substitution exon 1 RISN_TULP1:c.1495+1G>A TULP1:c.1495+1G>A RISN substitution intron 1 RISN_TULP1:c.200G>C TULP1:c.200G>C RISN substitution exon 1 RISN_TULP1:c.360_383del TULP1:c.360_383del RISN deletion exon 1 RISN_TULP1:c.719-19T>A TULP1:c.719-19T>A RISN substitution intron 1 RISN_TULP1:c.734C>T TULP1:c.734C>T RISN substitution exon 1 RISN_TULP1:c.776T>C TULP1:c.776T>C RISN substitution exon 1 RISN_TULP1:c.783C>G TULP1:c.783C>G RISN substitution exon 1 RISN_TULP1:c.805A>C TULP1:c.805A>C RISN substitution exon 1 RISN_TULP1:c.823-4A>C TULP1:c.823-4A>C RISN substitution intron 1 RISN_TULP1:c.1369A>G TULP1:c.1369A>G RISN substitution exon 1 RISN_TULP1:c.1492G>A TULP1:c.1492G>A RISN substitution exon 1 RISN_TULP1:c.1496-6C>A TULP1:c.1496-6C>A RISN substitution intron 1 LQTS_NM_000238.2:c.87C>A NM_000238.2(KCNH2):c.87C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.98A>C NM_000238.2(KCNH2):c.98A>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.132C>A NM_000238.2(KCNH2):c.132C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.140G>T NM_000238.2(KCNH2):c.140G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.157G>C NM_000238.2(KCNH2):c.157G>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.167G>A NM_000238.2(KCNH2):c.167G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.196T>G NM_000238.2(KCNH2):c.196T>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.209A>G NM_000238.2(KCNH2):c.209A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.215C>A NM_000238.2(KCNH2):c.215C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.221_251del NM_000238.2(KCNH2):c.221_251del LQTSdb deletion exon 1 LQTS_NM_000238.2:c.234_250dup NM_000238.2(KCNH2):c.234_250dup LQTSdb duplication exon 1 LQTS_NM_000238.2:p.A78P NM_000238.2(KCNH2):p.A78P LQTSdb substitution exon 1 LQTS_NM_000238.2:c.241C>T NM_000238.2(KCNH2):c.241C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.257T>G NM_000238.2(KCNH2):c.257T>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.260T>C NM_000238.2(KCNH2):c.260T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.287T>C NM_000238.2(KCNH2):c.287T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.296A>C NM_000238.2(KCNH2):c.296A>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.391G>A NM_000238.2(KCNH2):c.391G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:p.M124R NM_000238.2(KCNH2):p.M124R LQTSdb substitution exon 1 LQTS_NM_000238.2:c.453delC NM_000238.2(KCNH2):c.453delC LQTSdb deletion exon 1 LQTS_NM_000238.2:c.526C>T NM_000238.2(KCNH2):c.526C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.558_600dup NM_000238.2(KCNH2):c.558_600dup LQTSdb duplication exon 1 LQTS_NM_000238.2:c.934C>T NM_000238.2(KCNH2):c.934C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1039C>T NM_000238.2(KCNH2):c.1039C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1096C>T NM_000238.2(KCNH2):c.1096C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1128G>A NM_000238.2(KCNH2):c.1128G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1129-2G>A NM_000238.2(KCNH2):c.1129-2G>A LQTSdb substitution intron 1 LQTS_NM_000238.2:c.1199T>A NM_000238.2(KCNH2):c.1199T>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1261delA NM_000238.2(KCNH2):c.1261delA LQTSdb deletion exon 1 LQTS_NM_000238.2:c.1283C>A NM_000238.2(KCNH2):c.1283C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:p.S428L NM_000238.2(KCNH2):p.S428L LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1307C>T NM_000238.2(KCNH2):c.1307C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1341C>A NM_000238.2(KCNH2):c.1341C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1352C>T NM_000238.2(KCNH2):c.1352C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1408A>G NM_000238.2(KCNH2):c.1408A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1421C>T NM_000238.2(KCNH2):c.1421C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1479C>G NM_000238.2(KCNH2):c.1479C>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1496_1523del NM_000238.2(KCNH2):c.1496_1523del LQTSdb deletion exon 1 LQTS_NM_000238.2:c.1501G>A NM_000238.2(KCNH2):c.1501G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1592G>A NM_000238.2(KCNH2):c.1592G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:p.L552S NM_000238.2(KCNH2):p.L552S LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1600C>T NM_000238.2(KCNH2):c.1600C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1655T>C NM_000238.2(KCNH2):c.1655T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1672G>C NM_000238.2(KCNH2):c.1672G>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1681G>A NM_000238.2(KCNH2):c.1681G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1682C>T NM_000238.2(KCNH2):c.1682C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1691T>C NM_000238.2(KCNH2):c.1691T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1705T>C NM_000238.2(KCNH2):c.1705T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1714G>C NM_000238.2(KCNH2):c.1714G>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1714G>T NM_000238.2(KCNH2):c.1714G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1750G>A NM_000238.2(KCNH2):c.1750G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1755G>T NM_000238.2(KCNH2):c.1755G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1762A>G NM_000238.2(KCNH2):c.1762A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1778T>C NM_000238.2(KCNH2):c.1778T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1778T>G NM_000238.2(KCNH2):c.1778T>G LQTSdb substitution exon 1 LQTS_NM_000238.2:p.I593X NM_000238.2(KCNH2):p.I593X LQTSdb substitution exon 1 LQTS_NM_000238.2:p.P596L NM_000238.2(KCNH2):p.P596L LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1801G>A NM_000238.2(KCNH2):c.1801G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1810G>A NM_000238.2(KCNH2):c.1810G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1825G>A NM_000238.2(KCNH2):c.1825G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1831T>C NM_000238.2(KCNH2):c.1831T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1833T>A/G NM_000238.2(KCNH2):c.1833T>A/G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1834G>T NM_000238.2(KCNH2):c.1834G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1838C>T NM_000238.2(KCNH2):c.1838C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1862G>A NM_000238.2(KCNH2):c.1862G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1876G>A NM_000238.2(KCNH2):c.1876G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1877G>T NM_000238.2(KCNH2):c.1877G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1881C>G NM_000238.2(KCNH2):c.1881C>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1882G>A NM_000238.2(KCNH2):c.1882G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1885A>G NM_000238.2(KCNH2):c.1885A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1886A>G NM_000238.2(KCNH2):c.1886A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:p.N629K NM_000238.2(KCNH2):p.N629K LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1888G>C NM_000238.2(KCNH2):c.1888G>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1889T>C NM_000238.2(KCNH2):c.1889T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1894C>T NM_000238.2(KCNH2):c.1894C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1898A>G NM_000238.2(KCNH2):c.1898A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1912A>G NM_000238.2(KCNH2):c.1912A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1913_1915del NM_000238.2(KCNH2):c.1913_1915del LQTSdb deletion exon 1 LQTS_NM_000238.2:c.1920C>A NM_000238.2(KCNH2):c.1920C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1933A>T NM_000238.2(KCNH2):c.1933A>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1951_1952delAT NM_000238.2(KCNH2):c.1951_1952delAT LQTSdb deletion exon 1 LQTS_NM_000238.2:c.2001C>A NM_000238.2(KCNH2):c.2001C>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2044G>T NM_000238.2(KCNH2):c.2044G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2092G>T NM_000238.2(KCNH2):c.2092G>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2173C>T NM_000238.2(KCNH2):c.2173C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2254C>T NM_000238.2(KCNH2):c.2254C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2350C>T NM_000238.2(KCNH2):c.2350C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2356_2376dup NM_000238.2(KCNH2):c.2356_2376dup LQTSdb duplication exon 1 LQTS_NM_000238.2:c.2395delC NM_000238.2(KCNH2):c.2395delC LQTSdb deletion exon 1 LQTS_NM_000238.2:c.2398+1G>C NM_000238.2(KCNH2):c.2398+1G>C LQTSdb substitution intron 1 LQTS_NM_000238.2:c.2414T>C NM_000238.2(KCNH2):c.2414T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2414T>G NM_000238.2(KCNH2):c.2414T>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2453C>T NM_000238.2(KCNH2):c.2453C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2464G>A NM_000238.2(KCNH2):c.2464G>A LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2467C>T NM_000238.2(KCNH2):c.2467C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2582A>T NM_000238.2(KCNH2):c.2582A>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2592+1G>A NM_000238.2(KCNH2):c.2592+1G>A LQTSdb substitution intron 1 LQTS_NM_000238.2:c.2616delC NM_000238.2(KCNH2):c.2616delC LQTSdb deletion exon 1 LQTS_NM_000238.2:c.2660delG NM_000238.2(KCNH2):c.2660delG LQTSdb deletion exon 1 LQTS_NM_000238.2:c.2750C>T NM_000238.2(KCNH2):c.2750C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2764C>T NM_000238.2(KCNH2):c.2764C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2906delG NM_000238.2(KCNH2):c.2906delG LQTSdb deletion exon 1 LQTS_NM_000238.2:p.W1001X NM_000238.2(KCNH2):p.W1001X LQTSdb substitution exon 1 LQTS_NM_000238.2:c.3040C>T NM_000238.2(KCNH2):c.3040C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.3094delC NM_000238.2(KCNH2):c.3094delC LQTSdb deletion exon 1 LQTS_NM_000238.2:c.2690A>C NM_000238.2(KCNH2):c.2690A>C LQTSdb substitution exon 1 LQTS_NM_000238.2:p.R1047L NM_000238.2(KCNH2):p.R1047L LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1467C>T NM_000238.2(KCNH2):c.1467C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1539C>T NM_000238.2(KCNH2):c.1539C>T LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1692A>G NM_000238.2(KCNH2):c.1692A>G LQTSdb substitution exon 1 LQTS_NM_000238.2:c.1956T>C NM_000238.2(KCNH2):c.1956T>C LQTSdb substitution exon 1 LQTS_NM_000238.2:c.2965+22A>G NM_000238.2(KCNH2):c.2965+22A>G LQTSdb substitution intron 1 LQTS_4557686:c.20C>T;226G>A 4557686(KCNE1):c.[20C>T(+)226G>A] LQTSdb substitution exon 1 LQTS_4557686:c.95G>A 4557686(KCNE1):c.95G>A LQTSdb substitution exon 1 LQTS_4557686:c.139G>T 4557686(KCNE1):c.139G>T LQTSdb substitution exon 1 LQTS_4557686:c.172A>C;176T>C;177G>T 4557686(KCNE1):c.[172A>C(+)176T>C(+)177G>T] LQTSdb substitution exon 1 LQTS_4557686:c.221C>T 4557686(KCNE1):c.221C>T LQTSdb substitution exon 1 LQTS_4557686:c.226G>A 4557686(KCNE1):c.226G>A LQTSdb substitution exon 1 LQTS_4557686:c.259T>C 4557686(KCNE1):c.259T>C LQTSdb substitution exon 1 LQTS_4557686:c.292C>T 4557686(KCNE1):c.292C>T LQTSdb substitution exon 1 LQTS_4557686:c.325G>A 4557686(KCNE1):c.325G>A LQTSdb substitution exon 1 LQTS_4557686:c.379C>A 4557686(KCNE1):c.379C>A LQTSdb substitution exon 1 LQTS_4557686:c.112G>A 4557686(KCNE1):c.112G>A LQTSdb substitution exon 1 LQTS_4557686:c.253G>A 4557686(KCNE1):c.253G>A LQTSdb substitution exon 1 LQTS_NM_000335.4:c.376A>G NM_000335.4(SCN5A):c.376A>G LQTSdb substitution exon 1 LQTS_NM_000335.4:c.892G>A NM_000335.4(SCN5A):c.892G>A LQTSdb substitution exon 1 LQTS_NM_000335.4:c.1052G>T NM_000335.4(SCN5A):c.1052G>T LQTSdb substitution exon 1 LQTS_NM_000335.4:p.L619F NM_000335.4(SCN5A):p.L619F LQTSdb substitution exon 1 LQTS_NM_000335.4:c.2989G>T NM_000335.4(SCN5A):c.2989G>T LQTSdb substitution exon 1 LQTS_NM_000335.4:c.3305C>A NM_000335.4(SCN5A):c.3305C>A LQTSdb substitution exon 1 LQTS_NM_000335.4:p.E1295K NM_000335.4(SCN5A):p.E1295K LQTSdb substitution exon 1 LQTS_NM_000335.4:c.3816delG NM_000335.4(SCN5A):c.3816delG LQTSdb deletion exon 1 LQTS_NM_000335.4:c.4372T>G NM_000335.4(SCN5A):c.4372T>G LQTSdb substitution exon 1 LQTS_NM_000335.4:p.R1432G NM_000335.4(SCN5A):p.R1432G LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4501G>C NM_000335.4(SCN5A):c.4501G>C LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4511_4520del NM_000335.4(SCN5A):c.4511_4520del LQTSdb deletion exon 1 LQTS_NM_000335.4:p.R1512W NM_000335.4(SCN5A):p.R1512W LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4850_4852del NM_000335.4(SCN5A):c.4850_4852del LQTSdb deletion exon 1 LQTS_NM_000335.4:c.4868T>G NM_000335.4(SCN5A):c.4868T>G LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4934T>C NM_000335.4(SCN5A):c.4934T>C LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4999A>G NM_000335.4(SCN5A):c.4999A>G LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5227A>G NM_000335.4(SCN5A):c.5227A>G LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5298C>A NM_000335.4(SCN5A):c.5298C>A LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5302G>A NM_000335.4(SCN5A):c.5302G>A LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5329G>A NM_000335.4(SCN5A):c.5329G>A LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5349G>A NM_000335.4(SCN5A):c.5349G>A LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5360A>G NM_000335.4(SCN5A):c.5360A>G LQTSdb substitution exon 1 LQTS_NM_000335.4:p.Y1795C NM_000335.4(SCN5A):p.Y1795C LQTSdb substitution exon 1 LQTS_NM_000335.4:p.Y1975H NM_000335.4(SCN5A):p.Y1975H LQTSdb substitution exon 1 LQTS_NM_000335.4:c.1673A>G NM_000335.4(SCN5A):c.1673A>G LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4500G>T NM_000335.4(SCN5A):c.4500G>T LQTSdb substitution exon 1 LQTS_NM_000335.4:c.1017C>T NM_000335.4(SCN5A):c.1017C>T LQTSdb substitution exon 1 LQTS_NM_000335.4:c.4299+53T>C NM_000335.4(SCN5A):c.4299+53T>C LQTSdb substitution intron 1 LQTS_NM_000335.4:c.5454T>C NM_000335.4(SCN5A):c.5454T>C LQTSdb substitution exon 1 LQTS_NM_000335.4:c.5457C>T NM_000335.4(SCN5A):c.5457C>T LQTSdb substitution exon 1 LQTS_NM_005136.2:c.25C>G NM_005136.2(KCNE2):c.25C>G LQTSdb substitution exon 1 LQTS_NM_005136.2:c.161T>C NM_005136.2(KCNE2):c.161T>C LQTSdb substitution exon 1 LQTS_NM_005136.2:c.193G>A NM_005136.2(KCNE2):c.193G>A LQTSdb substitution exon 1 LQTS_NM_005136.2:c.170T>C NM_005136.2(KCNE2):c.170T>C LQTSdb substitution exon 1 LQTS_NM_005136.2:c.420C>T NM_005136.2(KCNE2):c.420C>T LQTSdb substitution exon 1 LQTS_NM_005136.2:c.22A>G NM_005136.2(KCNE2):c.22A>G LQTSdb substitution exon 1 LQTS_NM_005136.2:c.-28A>G NM_005136.2(KCNE2):c.-28A>G LQTSdb substitution 5' UTR 1 LQTS_AF000571.1:c.211_219del AF000571.1(KvLQT1):c.211_219del LQTSdb deletion exon 1 LQTS_AF000571.1:c.332A>G AF000571.1(KvLQT1):c.332A>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.341T>C AF000571.1(KvLQT1):c.341T>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.470T>G AF000571.1(KvLQT1):c.470T>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.478G>A AF000571.1(KvLQT1):c.478G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.500_502del AF000571.1(KvLQT1):c.500_502del LQTSdb deletion exon 1 LQTS_AF000571.1:c.502G>C AF000571.1(KvLQT1):c.502G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.504delG AF000571.1(KvLQT1):c.504delG LQTSdb deletion exon 1 LQTS_AF000571.1:c.513C>G AF000571.1(KvLQT1):c.513C>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.520C>T AF000571.1(KvLQT1):c.520C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.521G>A AF000571.1(KvLQT1):c.521G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.532G>C AF000571.1(KvLQT1):c.532G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.532G>A AF000571.1(KvLQT1):c.532G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.535G>A AF000571.1(KvLQT1):c.535G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.551A>C AF000571.1(KvLQT1):c.551A>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.565G>A AF000571.1(KvLQT1):c.565G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.569G>A AF000571.1(KvLQT1):c.569G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.572_576del AF000571.1(KvLQT1):c.572_576del LQTSdb deletion exon 1 LQTS_AF000571.1:p.F193L AF000571.1(KvLQT1):p.F193L LQTSdb substitution exon 1 LQTS_AF000571.1:c.580G>C AF000571.1(KvLQT1):c.580G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.674C>T AF000571.1(KvLQT1):c.674C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.724G>A AF000571.1(KvLQT1):c.724G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.727C>T AF000571.1(KvLQT1):c.727C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.728G>A AF000571.1(KvLQT1):c.728G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.742T>A AF000571.1(KvLQT1):c.742T>A LQTSdb substitution exon 1 LQTS_AF000571.1:p.L251P AF000571.1(KvLQT1):p.L251P LQTSdb substitution exon 1 LQTS_AF000571.1:c.760G>A AF000571.1(KvLQT1):c.760G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.775C>T AF000571.1(KvLQT1):c.775C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.781G>A AF000571.1(KvLQT1):c.781G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.783G>C AF000571.1(KvLQT1):c.783G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.797T>A AF000571.1(KvLQT1):c.797T>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.805G>A AF000571.1(KvLQT1):c.805G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.806G>A AF000571.1(KvLQT1):c.806G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.817C>T AF000571.1(KvLQT1):c.817C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.842A>G AF000571.1(KvLQT1):c.842A>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.898G>A AF000571.1(KvLQT1):c.898G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.914G>C AF000571.1(KvLQT1):c.914G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.914G>A AF000571.1(KvLQT1):c.914G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.916G>A AF000571.1(KvLQT1):c.916G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.921+1G>T AF000571.1(KvLQT1):c.921+1G>T LQTSdb substitution intron 1 LQTS_AF000571.1:c.922-2A>C AF000571.1(KvLQT1):c.922-2A>C LQTSdb substitution intron 1 LQTS_AF000571.1:c.922-1G>C AF000571.1(KvLQT1):c.922-1G>C LQTSdb substitution intron 1 LQTS_AF000571.1:c.926C>G AF000571.1(KvLQT1):c.926C>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.926C>T AF000571.1(KvLQT1):c.926C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.928G>A AF000571.1(KvLQT1):c.928G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.932C>T AF000571.1(KvLQT1):c.932C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.935C>T AF000571.1(KvLQT1):c.935C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.939C>G AF000571.1(KvLQT1):c.939C>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.940G>A AF000571.1(KvLQT1):c.940G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.940G>T AF000571.1(KvLQT1):c.940G>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.944A>C AF000571.1(KvLQT1):c.944A>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.944A>G AF000571.1(KvLQT1):c.944A>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.946G>C AF000571.1(KvLQT1):c.946G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.949G>A AF000571.1(KvLQT1):c.949G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.954G>C AF000571.1(KvLQT1):c.954G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.958C>G AF000571.1(KvLQT1):c.958C>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.973G>A AF000571.1(KvLQT1):c.973G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1008delC AF000571.1(KvLQT1):c.1008delC LQTSdb deletion exon 1 LQTS_AF000571.1:c.1015_1017del AF000571.1(KvLQT1):c.1015_1017del LQTSdb deletion exon 1 LQTS_AF000571.1:c.1017_1019del AF000571.1(KvLQT1):c.1017_1019del LQTSdb deletion exon 1 LQTS_AF000571.1:c.1022C>A AF000571.1(KvLQT1):c.1022C>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1022C>T AF000571.1(KvLQT1):c.1022C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1024C>T AF000571.1(KvLQT1):c.1024C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1032G>A AF000571.1(KvLQT1):c.1032G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1032G>T AF000571.1(KvLQT1):c.1032G>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1032G>C AF000571.1(KvLQT1):c.1032G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1033G>C AF000571.1(KvLQT1):c.1033G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1033G>A AF000571.1(KvLQT1):c.1033G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1046C>G AF000571.1(KvLQT1):c.1046C>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.1058T>C AF000571.1(KvLQT1):c.1058T>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1066C>T AF000571.1(KvLQT1):c.1066C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1070A>G AF000571.1(KvLQT1):c.1070A>G LQTSdb substitution exon 1 LQTS_AF000571.1:c.1096C>T AF000571.1(KvLQT1):c.1096C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1097G>A AF000571.1(KvLQT1):c.1097G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1097G>C AF000571.1(KvLQT1):c.1097G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1111G>A AF000571.1(KvLQT1):c.1111G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1117T>C AF000571.1(KvLQT1):c.1117T>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1172C>T AF000571.1(KvLQT1):c.1172C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1174T>C AF000571.1(KvLQT1):c.1174T>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1188delC AF000571.1(KvLQT1):c.1188delC LQTSdb deletion exon 1 LQTS_AF000571.1:c.760G>A;1249G>A AF000571.1(KvLQT1):c.[760G>A(+)1249G>A] LQTSdb substitution exon 1 LQTS_AF000571.1:c.1343delC AF000571.1(KvLQT1):c.1343delC LQTSdb deletion exon 1 LQTS_AF000571.1:c.1552C>T AF000571.1(KvLQT1):c.1552C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1573G>A AF000571.1(KvLQT1):c.1573G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1588C>T AF000571.1(KvLQT1):c.1588C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1597C>T AF000571.1(KvLQT1):c.1597C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1615C>T AF000571.1(KvLQT1):c.1615C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1663C>T AF000571.1(KvLQT1):c.1663C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1697C>T AF000571.1(KvLQT1):c.1697C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1703G>C AF000571.1(KvLQT1):c.1703G>C LQTSdb substitution exon 1 LQTS_AF000571.1:c.1747C>T AF000571.1(KvLQT1):c.1747C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1760C>T AF000571.1(KvLQT1):c.1760C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1766G>A AF000571.1(KvLQT1):c.1766G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1772G>A AF000571.1(KvLQT1):c.1772G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1781G>A AF000571.1(KvLQT1):c.1781G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1927G>A AF000571.1(KvLQT1):c.1927G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.435C>T AF000571.1(KvLQT1):c.435C>T LQTSdb substitution exon 1 LQTS_AF000571.1:c.1110G>A AF000571.1(KvLQT1):c.1110G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1394-12C>T AF000571.1(KvLQT1):c.1394-12C>T LQTSdb substitution intron 1 LQTS_AF000571.1:c.1638G>A AF000571.1(KvLQT1):c.1638G>A LQTSdb substitution exon 1 LQTS_AF000571.1:c.1685+23G>A AF000571.1(KvLQT1):c.1685+23G>A LQTSdb substitution intron 1 LQTS_AF000571.1:c.1732+43T>C AF000571.1(KvLQT1):c.1732+43T>C LQTSdb substitution intron 1 LQTS_AF000571.1:c.1986C>T AF000571.1(KvLQT1):c.1986C>T LQTSdb substitution exon 1 ADM_1 AF109907.1(PSEN1):g.88906C>T ADM substitution exon 1 ADM_2 AF109907.1(PSEN1):g.91616T>C ADM substitution exon 1 ADM_3 AF109907.1(PSEN1):g.88914G>C ADM substitution exon 1 ADM_5 AF109907.1(PSEN1):g.88956G>T ADM substitution exon 1 ADM_6 AF109907.1(PSEN1):g.89009delG ADM deletion intron 1 ADM_7 AF109907.1(PSEN1):g.91532A>G ADM substitution exon 1 ADM_8 AF109907.1(PSEN1):g.91531T>C ADM substitution exon 1 ADM_9 AF109907.1(PSEN1):g.91538C>T ADM substitution exon 1 ADM_10 AF109907.1(PSEN1):g.91548A>T ADM substitution exon 1 ADM_11 AF109907.1(PSEN1):g.91546G>A ADM substitution exon 1 ADM_12 AF109907.1(PSEN1):g.91591A>G ADM substitution exon 1 ADM_13 AF109907.1(PSEN1):g.91605G>A ADM substitution exon 1 ADM_14 AF109907.1(PSEN1):g.91604T>C ADM substitution exon 1 ADM_15 AF109907.1(PSEN1):g.91603A>G ADM substitution exon 1 ADM_16 AF109907.1(PSEN1):g.91615A>T ADM substitution exon 1 ADM_17 AF109907.1(PSEN1):g.91626G>C ADM substitution exon 1 ADM_18 AF109907.1(PSEN1):g.91624A>T ADM substitution exon 1 ADM_19 AF109907.1(PSEN1):g.91624A>G ADM substitution exon 1 ADM_20 AF109907.1(PSEN1):g.104770A>G ADM substitution exon 1 ADM_21 AF109907.1(PSEN1):g.104769C>T ADM substitution exon 1 ADM_22 AF109907.1(PSEN1):g.110556A>C ADM substitution exon 1 ADM_23 AF109907.1(PSEN1):g.110630G>T ADM substitution exon 1 ADM_24 AF109907.1(PSEN1):g.110642T>C ADM substitution exon 1 ADM_25 AF109907.1(PSEN1):g.110695G>A ADM substitution exon 1 ADM_26 AF109907.1(PSEN1):g.110696C>T ADM substitution exon 1 ADM_27 AF109907.1(PSEN1):g.110702T>C ADM substitution exon 1 ADM_28 AF109907.1(PSEN1):g.110708T>C ADM substitution exon 1 ADM_29 AF109907.1(PSEN1):g.110741C>A ADM substitution exon 1 ADM_30 AF109907.1(PSEN1):g.110753T>C ADM substitution exon 1 ADM_31 AF109907.1(PSEN1):g.115949C>T ADM substitution exon 1 ADM_32 AF109907.1(PSEN1):g.115956G>C ADM substitution exon 1 ADM_33 AF109907.1(PSEN1):g.115957T>C ADM substitution exon 1 ADM_34 AF109907.1(PSEN1):g.115961C>T ADM substitution exon 1 ADM_35 AF109907.1(PSEN1):g.115969C>T ADM substitution exon 1 ADM_36 AF109907.1(PSEN1):g.115975C>G ADM substitution exon 1 ADM_37 AF109907.1(PSEN1):g.115976G>A ADM substitution exon 1 ADM_38 AF109907.1(PSEN1):g.116003G>C ADM substitution exon 1 ADM_39 AF109907.1(PSEN1):g.116009A>C ADM substitution exon 1 ADM_40 AF109907.1(PSEN1):g.116009A>G ADM substitution exon 1 ADM_41 AF109907.1(PSEN1):g.116015T>G ADM substitution exon 1 ADM_42 AF109907.1(PSEN1):g.116024C>T ADM substitution exon 1 ADM_43 AF109907.1(PSEN1):g.116026C>G ADM substitution exon 1 ADM_44 AF109907.1(PSEN1):g.135032G>A ADM substitution exon 1 ADM_45 AF109907.1(PSEN1):g.135050G>C ADM substitution exon 1 ADM_46 AF109907.1(PSEN1):g.135073C>G ADM substitution exon 1 ADM_47 AF109907.1(PSEN1):g.135128G>A ADM substitution exon 1 ADM_48 AF109907.1(PSEN1):g.137065G>C ADM substitution exon 1 ADM_50 U50871.1(PSEN2):g.38915G>A ADM substitution exon 1 ADM_51 U50871.1(PSEN2):g.40770A>T ADM substitution exon 1 ADM_52 U50871.1(PSEN2):g.40790G>A ADM substitution exon 1 ADM_53 U50871.1(PSEN2):g.44147A>G ADM substitution exon 1 ADM_55 D87675.1(APP):g.[278645G>T;278646A>C] ADM substitution exon 1 ADM_56 D87675.1(APP):g.284414C>G ADM substitution exon 1 ADM_57 D87675.1(APP):g.284485A>G ADM substitution exon 1 ADM_58 D87675.1(APP):g.284489T>G ADM substitution exon 1 ADM_59 D87675.1(APP):g.284488G>A ADM substitution exon 1 ADM_60 D87675.1(APP):g.284488G>T ADM substitution exon 1 ADM_61 D87675.1(APP):g.284507T>C ADM substitution exon 1 ADM_63 AF109907.1(PSEN1):g.124289G>A ADM substitution intron 1 ADM_64 AF109907.1(PSEN1):g.124289G>T ADM substitution intron 1 ADM_65 AF109907.1(PSEN1):g.122666_127220del ADM deletion not within known transcription unit 1 ADM_66 AF109907.1(PSEN1):g.91555G>A ADM substitution exon 1 ADM_67 AF109907.1(PSEN1):g.115988A>C ADM substitution exon 1 ADM_68 AF109907.1(PSEN1):g.104794T>C ADM substitution exon 1 ADM_69 AF109907.1(PSEN1):g.104788C>T ADM substitution exon 1 ADM_70 AF109907.1(PSEN1):g.137096C>A ADM substitution exon 1 ADM_71 D87675.1(APP):g.284482G>A ADM substitution exon 1 ADM_72 AF109907.1(PSEN1):g.110660T>C ADM substitution exon 1 ADM_73 AF109907.1(PSEN1):g.110701A>C ADM substitution exon 1 ADM_74 AF109907.1(PSEN1):g.135124G>A ADM substitution exon 1 ADM_75 AF109907.1(PSEN1):g.88985T>G ADM substitution exon 1 ADM_76 U50871.1(PSEN2):g.40712A>C ADM substitution exon 1 ADM_77 U50871.1(PSEN2):g.44149G>A ADM substitution exon 1 ADM_78 AF109907.1(PSEN1):g.135113A>G ADM substitution exon 1 ADM_79 AF109907.1(PSEN1):g.104787T>C ADM substitution exon 1 ADM_81 AF109907.1(PSEN1):g.110629G>A ADM substitution exon 1 ADM_82 AF109907.1(PSEN1):g.91604T>A ADM substitution exon 1 ADM_83 AF109907.1(PSEN1):g.91628C>T ADM substitution exon 1 ADM_84 AF109907.1(PSEN1):g.104800T>G ADM substitution exon 1 ADM_85 AF109907.1(PSEN1):g.104777G>C ADM substitution exon 1 ADM_86 AF109907.1(PSEN1):g.135068G>T ADM substitution exon 1 ADM_87 AF109907.1(PSEN1):g.91626G>A ADM substitution exon 1 ADM_88 AF109907.1(PSEN1):g.104779T>G ADM substitution exon 1 ADM_89 AF109907.1(PSEN1):g.137095C>T ADM substitution exon 1 ADM_90 D87675.1(APP):g.284488G>C ADM substitution exon 1 ADM_91 AF109907.1(PSEN1):g.91645C>G ADM substitution exon 1 ADM_92 AF109907.1(PSEN1):g.115951G>T ADM substitution exon 1 ADM_93 AF109907.1(PSEN1):g.91535C>A ADM substitution exon 1 ADM_94 AF109907.1(PSEN1):g.110659C>T ADM substitution exon 1 ADM_95 AF109907.1(PSEN1):g.88950G>A ADM substitution exon 1 ADM_96 D87675.1(APP):g.284417A>G ADM substitution exon 1 ADM_97 D87675.1(APP):g.284480C>T ADM substitution exon 1 ADM_98 AF109907.1(PSEN1):g.122290_128147del ADM deletion not within known transcription unit 1 ADM_99 AF109907.1(PSEN1):g.91548A>C ADM substitution exon 1 ADM_100 AF109907.1(PSEN1):g.104775T>G ADM substitution exon 1 ADM_101 AF109907.1(PSEN1):g.135074T>C ADM substitution exon 1 ADM_102 AF109907.1(PSEN1):g.89008T>C ADM substitution exon 1 ADM_103 AF109907.1(PSEN1):g.88917_88922del ADM deletion exon 1 ADM_104 AF109907.1(PSEN1):g.[137089G>T;137090C>G] ADM substitution exon 1 ADM_105 D87675.1(APP):g.284419G>A ADM substitution exon 1 ADM_106 AF109907.1(PSEN1):g.88774G>A ADM substitution exon 1 ADM_107 AF109907.1(PSEN1):g.91624A>C ADM substitution exon 1 ADM_108 AF109907.1(PSEN1):g.91626G>T ADM substitution exon 1 ADM_109 AF109907.1(PSEN1):g.91654_91655insTTATAT ADM insertion exon 1 ADM_110 AF109907.1(PSEN1):g.104811T>C ADM substitution exon 1 ADM_111 AF109907.1(PSEN1):g.104812T>C ADM substitution exon 1 ADM_112 AF109907.1(PSEN1):g.104814T>C ADM substitution exon 1 ADM_113 AF109907.1(PSEN1):g.110620G>A ADM substitution exon 1 ADM_114 AF109907.1(PSEN1):g.110621G>C ADM substitution exon 1 ADM_115 AF109907.1(PSEN1):g.110630G>A ADM substitution exon 1 ADM_116 AF109907.1(PSEN1):g.110641A>C ADM substitution exon 1 ADM_117 AF109907.1(PSEN1):g.110669A>G ADM substitution exon 1 ADM_118 AF109907.1(PSEN1):g.115991C>G ADM substitution exon 1 ADM_119 AF109907.1(PSEN1):g.129777C>T ADM substitution exon 1 ADM_120 AF109907.1(PSEN1):g.129789G>A ADM substitution exon 1 ADM_121 AF109907.1(PSEN1):g.129810C>A ADM substitution exon 1 ADM_122 AF109907.1(PSEN1):g.135080G>T ADM substitution exon 1 ADM_123 AF109907.1(PSEN1):g.137043G>T ADM substitution exon 1 ADM_124 AF109907.1(PSEN1):g.137081C>A ADM substitution exon 1 ADM_125 AF109907.1(PSEN1):g.137092C>T ADM substitution exon 1 ADM_126 AF109907.1(PSEN1):g.137104A>G ADM substitution exon 1 ADM_127 AF109907.1(PSEN1):g.129771_129772insTCG ADM insertion exon 1 ADM_128 AF109907.1(PSEN1):g.110701A>G ADM substitution exon 1 ADM_129 AF109907.1(PSEN1):g.116014C>G ADM substitution exon 1 ADM_131 AF109907.1(PSEN1):g.110713T>A ADM substitution exon 1 ADM_132 U50871.1(PSEN2):g.50718A>C ADM substitution exon 1 ADM_133 D87675.1(APP):g.284479A>G ADM substitution exon 1 ADM_134 U50871.1(PSEN2):g.40737C>T ADM substitution exon 1 ADM_135 AF109907.1(PSEN1):g.104802C>A ADM substitution exon 1 ADM_136 AF109907.1(PSEN1):g.88945G>C ADM substitution exon 1 ADM_137 AF109907.1(PSEN1):g.104779T>C ADM substitution exon 1 ADM_138 AF109907.1(PSEN1):g.110654G>A ADM substitution exon 1 ADM_139 D87675.1(APP):g.284486T>C ADM substitution exon 1 ADM_140 D87675.1(APP):g.284483T>C ADM substitution exon 1 ADM_141 AF109907.1(PSEN1):g.91617T>G ADM substitution exon 1 ADM_142 AF109907.1(PSEN1):g.115985T>C ADM substitution exon 1 ADM_143 AF109907.1(PSEN1):g.91649A>G ADM substitution exon 1 ADM_144 AF109907.1(PSEN1):g.104780_104782delTAT ADM deletion exon 1 ADM_145 AF109907.1(PSEN1):g.110689A>T ADM substitution exon 1 ADM_146 AF109907.1(PSEN1):g.110707C>G ADM substitution exon 1 ADM_147 AF109907.1(PSEN1):g.110713T>C ADM substitution exon 1 ADM_148 AF109907.1(PSEN1):g.115958G>T ADM substitution exon 1 ADM_149 AF109907.1(PSEN1):g.135029G>T ADM substitution exon 1 ADM_150 AF109907.1(PSEN1):g.135032G>T ADM substitution exon 1 ADM_151 AF109907.1(PSEN1):g.91537C>T ADM substitution exon 1 ADM_152 AF109907.1(PSEN1):g.116003G>A ADM substitution exon 1 ADM_153 D87675.1(APP):g.284416G>C ADM substitution exon 1 ADM_154 AF109907.1(PSEN1):g.88935G>T ADM substitution exon 1 ADM_155 AF109907.1(PSEN1):g.137081C>T ADM substitution exon 1 ADM_156 AF109907.1(PSEN1):g.115981C>G ADM substitution exon 1 ADM_157 U50871.1(PSEN2):g.46943C>G ADM substitution exon 1 ADM_158 U50871.1(PSEN2):g.50691C>T ADM substitution exon 1 ADM_159 D87675.1(APP):g.[284476G>A;284484G>A] ADM substitution exon 1 ADM_160 D87675.1(APP):g.278652G>A ADM substitution exon 1 ADM_161 AF109907.1(PSEN1):g.104806T>C ADM substitution exon 1 ADM_162 D87675.1(APP):g.278630G>C ADM substitution exon 1 ADM_163 D87675.1(APP):g.284477C>T ADM substitution exon 1 ADM_164 AF109907.1(PSEN1):g.124374A>G ADM substitution exon 1 ADM_165 AF109907.1(PSEN1):g.116021C>T ADM substitution exon 1 ADM_166 AF109907.1(PSEN1):g.110621G>T ADM substitution exon 1 ADM_167 AF109907.1(PSEN1):g.110752T>G ADM substitution exon 1 ADM_168 AF109907.1(PSEN1):g.115970C>T ADM substitution exon 1 ADM_169 AF109907.1(PSEN1):g.137060T>G ADM substitution exon 1 ADM_170 AF109907.1(PSEN1):g.110670G>C ADM substitution exon 1 ADM_171 AF109907.1(PSEN1):g.110771A>C ADM substitution exon 1 ADM_172 AC091628.2(MAPT):g.75756G>A ADM substitution exon 1 ADM_173 AC091628.2(MAPT):g.75756G>T ADM substitution exon 1 ADM_174 AC091628.2(MAPT):g.110018A>C ADM substitution exon 1 ADM_175 AC091628.2(MAPT):g.110026A>G ADM substitution exon 1 ADM_176 AC091628.2(MAPT):g.110044C>G ADM substitution exon 1 ADM_177 AC091628.2(MAPT):g.110063G>T ADM substitution exon 1 ADM_178 AC091628.2(MAPT):g.123725T>G ADM substitution exon 1 ADM_179 AC091628.2(MAPT):g.123729_123731delAAG ADM deletion exon 1 ADM_180 AC091628.2(MAPT):g.123740T>C ADM substitution exon 1 ADM_181 AC091628.2(MAPT):g.123776T>C ADM substitution exon 1 ADM_182 AC091628.2(MAPT):g.123774A>C ADM substitution exon 1 ADM_183 AC091628.2(MAPT):g.123775_123777delATA ADM deletion exon 1 ADM_184 AC091628.2(MAPT):g.123789C>T ADM substitution exon 1 ADM_185 AC091628.2(MAPT):g.123803T>C ADM substitution exon 1 ADM_186 AC091628.2(MAPT):g.123802G>A ADM substitution exon 1 ADM_187 AC091628.2(MAPT):g.127672T>G ADM substitution exon 1 ADM_188 AC091628.2(MAPT):g.127687C>T ADM substitution exon 1 ADM_189 AC091628.2(MAPT):g.132039G>A ADM substitution exon 1 ADM_190 AC091628.2(MAPT):g.132055A>T ADM substitution exon 1 ADM_191 AC091628.2(MAPT):g.132085C>T ADM substitution exon 1 ADM_192 AC091628.2(MAPT):g.132136A>T ADM substitution exon 1 ADM_193 AC091628.2(MAPT):g.137420G>C ADM substitution exon 1 ADM_194 AC091628.2(MAPT):g.137420G>A ADM substitution exon 1 ADM_195 AC091628.2(MAPT):g.137471C>T ADM substitution exon 1 ADM_196 AC091628.2(MAPT):g.123790C>T ADM substitution exon 1 ADM_197 AC091628.2(MAPT):g.123806G>A ADM substitution intron 1 ADM_198 AC091628.2(MAPT):g.123814T>C ADM substitution intron 1 ADM_199 AC091628.2(MAPT):g.123815C>T ADM substitution intron 1 ADM_200 AC091628.2(MAPT):g.123816A>G ADM substitution intron 1 ADM_201 AC091628.2(MAPT):g.123817C>T ADM substitution intron 1 ADM_202 AC091628.2(MAPT):g.123819C>T ADM substitution intron 1 ADM_203 AC091628.2(MAPT):g.123822C>G ADM substitution intron 1 ADM_204 AC091628.2(MAPT):g.123832G>A ADM substitution intron 1 ADM_205 AC091628.2(MAPT):g.132037A>G ADM substitution exon 1 ADM_206 AC091628.2(MAPT):g.75796C>T ADM substitution exon 1 ADM_207 AC091628.2(MAPT):g.75859G>A ADM substitution exon 1 ADM_208 AC091628.2(MAPT):g.96815C>T ADM substitution exon 1 ADM_209 AC091628.2(MAPT):g.96899A>G ADM substitution exon 1 ADM_210 AC091628.2(MAPT):g.97063G>A ADM substitution exon 1 ADM_211 AC091628.2(MAPT):g.97065C>T ADM substitution exon 1 ADM_212 AC091628.2(MAPT):g.97076T>C ADM substitution exon 1 ADM_213 AC091628.2(MAPT):g.97317C>T ADM substitution exon 1 ADM_214 AC091628.2(MAPT):g.103422T>C ADM substitution exon 1 ADM_215 AC091628.2(MAPT):g.103440T>C ADM substitution exon 1 ADM_216 AC091628.2(MAPT):g.104964G>A ADM substitution exon 1 ADM_217 AC091628.2(MAPT):g.104968G>A ADM substitution exon 1 ADM_218 AC091628.2(MAPT):g.107334T>C ADM substitution exon 1 ADM_219 AC091628.2(MAPT):g.109929A>G ADM substitution exon 1 ADM_221 AC091628.2(MAPT):g.110013T>C ADM substitution exon 1 ADM_222 AC091628.2(MAPT):g.110058G>A ADM substitution exon 1 ADM_223 AC091628.2(MAPT):g.123791G>A ADM substitution exon 1 ADM_224 AF109907.1(PSEN1):g.104830G>T ADM substitution exon 1 ADM_225 AF109907.1(PSEN1):g.91538C>G ADM substitution exon 1 ADM_226 AF109907.1(PSEN1):g.110641A>T ADM substitution exon 1 ADM_227 U50871.1(PSEN2):g.44115A>T ADM substitution exon 1 ADM_228 AF109907.1(PSEN1):g.110681T>G ADM substitution exon 1 ADM_229 AF109907.1(PSEN1):g.91535C>T ADM substitution exon 1 ADM_230 AF109907.1(PSEN1):g.91531T>G ADM substitution exon 1 ADM_231 AC091628.2(MAPT):g.127678A>T ADM substitution exon 1 ADM_232 AC091628.2(MAPT):g.137535C>T ADM substitution exon 1 ADM_233 AC091628.2(MAPT):g.87825G>A ADM substitution exon 1 ADM_234 AF109907.1(PSEN1):g.91648T>A ADM substitution exon 1 ADM_235 D87675.1(APP):g.278665A>G ADM substitution exon 1 ADM_236 D87675.1(APP):g.278667G>A ADM substitution exon 1 ADM_237 AF109907.1(PSEN1):g.116003G>T ADM substitution exon 1 ADM_238 D87675.1(APP):g.284476G>A ADM substitution exon 1 ADM_239 AF109907.1(PSEN1):g.88924T>C ADM substitution exon 1 ADM_240 AC091628.2(MAPT):g.127673G>A ADM substitution exon 1 ADM_241 AF109907.1(PSEN1):g.89008T>A ADM substitution exon 1 ADM_242 AF109907.1(PSEN1):g.91592A>G ADM substitution exon 1 ADM_243 AC091628.2(MAPT):g.132034G>T ADM substitution exon 1 ADM_244 AC091628.2(MAPT):g.123796G>T ADM substitution exon 1 ADM_245 AC091628.2(MAPT):g.137525C>A ADM substitution exon 1 ADM_246 D87675.1(APP):g.284416G>A ADM substitution exon 1 ADM_247 D87675.1(APP):g.284452C>G ADM substitution exon 1 ADM_248 AF109907.1(PSEN1):g.104779T>A ADM substitution exon 1 ADM_249 AF109907.1(PSEN1):g.104791C>T ADM substitution exon 1 ADM_250 AF109907.1(PSEN1):g.137107_137109delACC ADM deletion exon 1 ADM_251 AF109907.1(PSEN1):g.104803T>G ADM substitution exon 1 ADM_252 AF109907.1(PSEN1):g.135040C>G ADM substitution exon 1 ADM_253 AF109907.1(PSEN1):g.88983T>A ADM substitution exon 1 ADM_254 AF109907.1(PSEN1):g.91616T>A ADM substitution exon 1 ADM_255 AF109907.1(PSEN1):g.110621G>A ADM substitution exon 1 ADM_256 AF109907.1(PSEN1):g.110644C>T ADM substitution exon 1 ADM_257 AF109907.1(PSEN1):g.135056T>C ADM substitution exon 1 ADM_258 AF109907.1(PSEN1):g.135070G>T ADM substitution exon 1 ADM_259 AF109907.1(PSEN1):g.137060T>A ADM substitution exon 1 ADM_265 AC003043.1.rev(GRN):g.101153C>T ADM substitution exon 1 ADM_266 AC003043.1.rev(GRN):g.96241G>C ADM substitution intron 1 ADM_267 AC003043.1.rev(GRN):g.100069G>A ADM substitution exon 1 ADM_268 AC003043.1.rev(GRN):g.101160_101161delCT ADM deletion exon 1 ADM_269 AC003043.1.rev(GRN):g.102065_102066insCTGA ADM insertion intron 1 ADM_270 AC003043.1.rev(GRN):g.100068T>C ADM substitution exon 1 ADM_271 AC003043.1.rev(GRN):g.100156_100157insCTGC ADM insertion exon 1 ADM_272 AC003043.1.rev(GRN):g.101168_101171delCAGT ADM deletion exon 1 ADM_273 AC003043.1.rev(GRN):g.102363G>A ADM substitution intron 1 ADM_274 AC003043.1.rev(GRN):g.102663delC ADM deletion exon 1 ADM_275 AC003043.1.rev(GRN):g.102675G>A ADM substitution exon 1 ADM_276 AC003043.1.rev(GRN):g.102989C>T ADM substitution exon 1 ADM_277 AC003043.1.rev(GRN):g.103139C>T ADM substitution exon 1 ADM_278 AF109907.1(PSEN1):g.110737A>C ADM substitution exon 1 ADM_279 AF109907.1(PSEN1):g.88959G>T ADM substitution exon 1 ADM_280 D87675.1(APP):g.284511G>C ADM substitution exon 1 ADM_281 AC003043.1.rev(GRN):g.100092C>A ADM substitution exon 1 ADM_282 AC003043.1.rev(GRN):g.100129_100130insC ADM insertion exon 1 ADM_283 AC003043.1.rev(GRN):g.100168delC ADM deletion exon 1 ADM_284 AC003043.1.rev(GRN):g.100205G>A ADM substitution intron 1 ADM_286 AC003043.1.rev(GRN):g.100343delA ADM deletion exon 1 ADM_287 AC003043.1.rev(GRN):g.100423_100424delAG ADM deletion exon 1 ADM_288 AC003043.1.rev(GRN):g.101343G>A ADM substitution intron 1 ADM_289 AC003043.1.rev(GRN):g.101669_101670delCA ADM deletion exon 1 ADM_290 AC003043.1.rev(GRN):g.101703G>C ADM substitution intron 1 ADM_291 AC003043.1.rev(GRN):g.101989_101990delTG ADM deletion exon 1 ADM_292 AC003043.1.rev(GRN):g.102264G>C ADM substitution intron 1 ADM_293 AC003043.1.rev(GRN):g.102339_102340insTG ADM insertion exon 1 ADM_294 AC003043.1.rev(GRN):g.102340G>A ADM substitution exon 1 ADM_295 AC003043.1.rev(GRN):g.102516delG ADM deletion exon 1 ADM_296 AC003043.1.rev(GRN):g.103132_103133insC ADM insertion exon 1 ADM_297 AC003043.1.rev(GRN):g.103306C>T ADM substitution exon 1 ADM_298 AC003043.1.rev(GRN):g.100121C>T ADM substitution exon 1 ADM_299 AC003043.1.rev(GRN):g.100165C>T ADM substitution exon 1 ADM_300 AC003043.1.rev(GRN):g.100453G>A ADM substitution exon 1 ADM_301 AC003043.1.rev(GRN):g.100617T>C ADM substitution exon 1 ADM_302 AC003043.1.rev(GRN):g.101164T>C ADM substitution exon 1 ADM_303 AC003043.1.rev(GRN):g.101702C>T ADM substitution exon 1 ADM_304 AC003043.1.rev(GRN):g.102290G>C ADM substitution exon 1 ADM_305 AC003043.1.rev(GRN):g.102332G>A ADM substitution exon 1 ADM_306 AC003043.1.rev(GRN):g.102488G>A ADM substitution exon 1 ADM_307 AC003043.1.rev(GRN):g.102990G>A ADM substitution exon 1 ADM_308 AC003043.1.rev(GRN):g.103034C>T ADM substitution exon 1 ADM_309 AC003043.1.rev(GRN):g.103251C>T ADM substitution exon 1 ADM_310 AC003043.1.rev(GRN):g.103373G>C ADM substitution exon 1 ADM_312 AF109907.1(PSEN1):g.124267_124268ins18 ADM insertion intron 1 ADM_313 AF109907.1(PSEN1):g.124292A>C ADM substitution exon 1 ADM_314 AC003043.1.rev(GRN):g.101703G>A ADM substitution intron 1 ADM_315 AC003043.1.rev(GRN):g.103228_103420del ADM deletion not within known transcription unit 1 ADM_316 AC091628.2(MAPT):g.109963G>A ADM substitution exon 1 ADM_317 AC091628.2(MAPT):g.123828C>T ADM substitution intron 1 ADM_318 AC003043.1.rev(GRN):g.102043_102046delCACT ADM deletion exon 1 ADM_319 U50871.1(PSEN2):g.40713C>G ADM substitution exon 1 ADM_320 AF109907.1(PSEN1):g.116020C>T ADM substitution exon 1 ADM_321 AF109907.1(PSEN1):g.110703G>C ADM substitution exon 1 ADM_322 AC091628.2(MAPT):g.132033G>A ADM substitution exon 1 ADM_323 AC003043.1.rev(GRN):g.100432delC ADM deletion exon 1 ADM_324 AC003043.1.rev(GRN):g.100583G>A ADM substitution exon 1 ADM_325 AC003043.1.rev(GRN):g.101426C>T ADM substitution exon 1 ADM_326 AC003043.1.rev(GRN):g.101692C>A ADM substitution exon 1 ADM_327 AC003043.1.rev(GRN):g.102968_102969delGT ADM deletion exon 1 ADM_328 AC003043.1.rev(GRN):g.102978G>T ADM substitution exon 1 ADM_329 AC003043.1.rev(GRN):g.103078C>T ADM substitution exon 1 ADM_330 AC003043.1.rev(GRN):g.103452G>C ADM substitution exon 1 ADM_331 AC003043.1.rev(GRN):g.101937A>G ADM substitution intron 1 ADM_332 AF109907.1(PSEN1):g.110680C>T ADM substitution exon 1 ADM_334 AC091628.2(MAPT):g.123701G>T ADM substitution intron 1 ADM_335 AC003043.1.rev(GRN):g.101139C>A ADM substitution exon 1 ADM_336 AC003043.1.rev(GRN):g.102694A>C ADM substitution exon 1 ADM_337 AC003043.1.rev(GRN):g.101201G>A ADM substitution exon 1 ADM_338 AC003043.1.rev(GRN):g.103110C>T ADM substitution exon 1 ADM_339 AC003043.1.rev(GRN):g.103584C>T ADM substitution exon 1 ADM_340 AC003043.1.rev(GRN):g.96239A>T ADM substitution intron 1 ADM_341 AC003043.1.rev(GRN):g.101141delG ADM deletion exon 1 ADM_342 AC003043.1.rev(GRN):g.101164_101167delTAGT ADM deletion exon 1 ADM_343 AC003043.1.rev(GRN):g.101349_101355delCTGCTGT ADM deletion exon 1 ADM_344 AC003043.1.rev(GRN):g.102460C>A ADM substitution exon 1 ADM_345 AC003043.1.rev(GRN):g.102613_102614delCT ADM deletion exon 1 ADM_346 AC003043.1.rev(GRN):g.102938C>T ADM substitution exon 1 ADM_347 AC003043.1.rev(GRN):g.102969_102970insGT ADM insertion exon 1 ADM_348 AC003043.1.rev(GRN):g.100168C>T ADM substitution exon 1 ADM_349 AC003043.1.rev(GRN):g.103613C>T ADM substitution exon 1 ADM_350 AC003043.1.rev(GRN):g.101973C>T ADM substitution exon 1 ADM_351 AC003043.1.rev(GRN):g.102003G>A ADM substitution exon 1 ADM_353 AC003043.1.rev(GRN):g.103031C>T ADM substitution exon 1 ADM_354 AC003043.1.rev(GRN):g.102338delC ADM deletion exon 1 ADM_355 AC003043.1.rev(GRN):g.103314C>T ADM substitution exon 1 ADM_356 AC003043.1.rev(GRN):g.100621G>A ADM substitution exon 1 ADM_357 AC003043.1.rev(GRN):g.101354G>A ADM substitution exon 1 ADM_358 AC003043.1.rev(GRN):g.101629G>A ADM substitution exon 1 ADM_359 AC003043.1.rev(GRN):g.101652A>T ADM substitution exon 1 ADM_360 AC003043.1.rev(GRN):g.102011C>A ADM substitution exon 1 ADM_361 AC003043.1.rev(GRN):g.102034G>A ADM substitution exon 1 ADM_362 AC003043.1.rev(GRN):g.102514G>A ADM substitution exon 1 ADM_363 AC003043.1.rev(GRN):g.103146C>T ADM substitution exon 1 ADM_364 AC003043.1.rev(GRN):g.103254C>T ADM substitution exon 1 ADM_365 AC003043.1.rev(GRN):g.103566G>A ADM substitution exon 1 ADM_366 AF109907.1(PSEN1):g.116004A>C ADM substitution exon 1 ADM_367 AF109907.1(PSEN1):g.137048T>G ADM substitution exon 1 ADM_368 AF109907.1(PSEN1):g.104778_104780delCTT ADM deletion exon 1 ADM_369 AF109907.1(PSEN1):g.110701A>T ADM substitution exon 1 ADM_371 AC003043.1.rev(GRN):g.102662_102663insA ADM insertion exon 1 ADM_372 AC003043.1.rev(GRN):g.100347T>C ADM substitution exon 1 ADM_373 U50871.1(PSEN2):g.38984C>T ADM substitution exon 1 ADM_374 AC091628.2(MAPT):g.132117G>A ADM substitution exon 1 ADM_375 AC003043.1.rev(GRN):g.100632C>T ADM substitution exon 1 ADM_376 AC003043.1.rev(GRN):g.102527C>T ADM substitution exon 1 ADM_377 AC091628.2(MAPT):g.123789C>A ADM substitution exon 1 ADM_378 NT_022459.14.20933454_21061505(CHMP2B):g.76265G>C ADM substitution intron 1 ADM_379 NT_022459.14.20933454_21061505(CHMP2B):g.75975G>T ADM substitution exon 1 ADM_380 NT_022459.14.20933454_21061505(CHMP2B):g.76290C>T ADM substitution exon 1 ADM_381 NT_022459.14.20933454_21061505(CHMP2B):g.50103C>T ADM substitution exon 1 ADM_382 NT_022459.14.20933454_21061505(CHMP2B):g.68453T>C ADM substitution exon 1 ADM_383 NT_022459.14.20933454_21061505(CHMP2B):g.72479A>C ADM substitution exon 1 ADM_384 NT_022459.14.20933454_21061505(CHMP2B):g.63303A>G ADM substitution exon 1 ADM_385 NT_022459.14.20933454_21061505(CHMP2B):g.76352A>C ADM substitution exon 1 ADM_386 NT_022459.14.20933454_21061505(CHMP2B):g.76026C>T ADM substitution exon 1 ADM_387 NT_022459.14.20933454_21061505(CHMP2B):g.75961A>G ADM substitution exon 1 reichardt_2 L03843.1:g.756T>C Reichardt substitution exon 1 reichardt_3 L03843.1:g.832C>T Reichardt substitution exon 1 reichardt_4 L03843.1:g.886C>G Reichardt substitution exon 1 reichardt_5 L03843.1:g.888G>A Reichardt substitution exon 1 reichardt_6 L03843.1:g.894G>A Reichardt substitution exon 1 reichardt_7 L03843.1:g.957C>T Reichardt substitution exon 1 reichardt_8 L03843.1:g.1008C>G Reichardt substitution exon 1 reichardt_9 L03843.1:g.1902C>T Reichardt substitution exon 1 reichardt_10 L03843.1:g.1924C>G Reichardt substitution exon 1 reichardt_11 L03843.1:g.1994delT Reichardt deletion exon 1 reichardt_12 L03843.1:g.2022G>A Reichardt substitution exon 1 reichardt_13 L03843.1:g.2244C>G Reichardt substitution exon 1 reichardt_14 L03843.1:g.95A>C Reichardt substitution not within known transcription unit 1 reichardt_15 L03843.1:g.97A>T Reichardt substitution not within known transcription unit 1 reichardt_16 L03843.1:g.362G>A Reichardt substitution not within known transcription unit 1 reichardt_17 L03843.1:g.528C>A Reichardt substitution not within known transcription unit 1 reichardt_18 L03843.1:g.682G>C Reichardt substitution not within known transcription unit 1 reichardt_19 L03843.1:g.742C>A Reichardt substitution not within known transcription unit 1 reichardt_20 L03843.1:g.905C>T Reichardt substitution not within known transcription unit 1 reichardt_21 L03843.1:g.926C>T Reichardt substitution not within known transcription unit 1 reichardt_22 L03843.1:g.950C>T Reichardt substitution not within known transcription unit 1 reichardt_23 L03843.1:g.952G>A Reichardt substitution not within known transcription unit 1 reichardt_24 L03843.1:g.953G>A Reichardt substitution not within known transcription unit 1 reichardt_25 L03843.1:g.1001C>G Reichardt substitution not within known transcription unit 1 reichardt_26 L03843.1:g.1016C>T Reichardt substitution not within known transcription unit 1 reichardt_27 L03843.1:g.1037C>G Reichardt substitution not within known transcription unit 1 reichardt_28 L03843.1:g.1039T>C Reichardt substitution not within known transcription unit 1 reichardt_29 L03843.1:g.1044G>A Reichardt substitution not within known transcription unit 1 reichardt_30 L03843.1:g.1047G>T Reichardt substitution not within known transcription unit 1 reichardt_31 L03843.1:g.1061A>C Reichardt substitution not within known transcription unit 1 reichardt_32 L03843.1:g.1395A>C Reichardt substitution not within known transcription unit 1 reichardt_33 L03843.1:g.1545A>T Reichardt substitution not within known transcription unit 1 reichardt_34 L03843.1:g.1888A>C Reichardt substitution not within known transcription unit 1 reichardt_35 L03843.1:g.1892G>C Reichardt substitution not within known transcription unit 1 reichardt_36 L03843.1:g.1927C>T Reichardt substitution not within known transcription unit 1 reichardt_37 L03843.1:g.2038T>C Reichardt substitution not within known transcription unit 1 reichardt_38 L03843.1:g.2584T>C Reichardt substitution not within known transcription unit 1 reichardt_39 L03843.1:g.3146A>T Reichardt substitution not within known transcription unit 1 reichardt_40 L03843.1:g.3174A>G Reichardt substitution not within known transcription unit 1 reichardt_41 L03843.1:g.3681A>C Reichardt substitution not within known transcription unit 1 reichardt_42 L03843.1:g.3877G>A Reichardt substitution not within known transcription unit 1 reichardt_43 L03843.1:g.4168A>G Reichardt substitution not within known transcription unit 1 VAR_000007 P26439:p.Leu205Pro SP substitution exon 1 VAR_000008 P26439:p.Ala245Pro SP substitution exon 1 VAR_000009 P26439:p.Tyr253Asn SP substitution exon 1 VAR_000010 P26439:p.Tyr254Asp SP substitution exon 1 VAR_000011 P26439:p.Thr259Arg SP substitution exon 1 VAR_000012 P01023:p.Arg704His SP substitution exon 1 VAR_000013 P01023:p.Cys972Tyr SP substitution exon 1 VAR_000014 P01023:p.Ile1000Val SP substitution exon 1 VAR_000016 P05067:p.Ala692Gly SP substitution exon 1 VAR_000017 P05067:p.Glu693Gln SP substitution exon 1 VAR_000018 P05067:p.Ala713Val SP substitution exon 1 VAR_000019 P05067:p.Ala713Thr SP substitution exon 1 VAR_000020 P05067:p.Ile716Val SP substitution exon 1 VAR_000021 P05067:p.Val717Ile SP substitution exon 1 VAR_000022 P05067:p.Val717Gly SP substitution exon 1 VAR_000023 P05067:p.Val717Phe SP substitution exon 1 VAR_000024 P33897:p.Ser98Leu SP substitution exon 1 VAR_000025 P33897:p.Arg104Cys SP substitution exon 1 VAR_000026 P33897:p.Arg104His SP substitution exon 1 VAR_000027 P33897:p.Thr105Ile SP substitution exon 1 VAR_000028 P33897:p.Leu107Pro SP substitution exon 1 VAR_000029 P33897:p.Ser108Trp SP substitution exon 1 VAR_000030 P33897:p.Gly116Arg SP substitution exon 1 VAR_000033 P33897:p.Ala141Thr SP substitution exon 1 VAR_000034 P33897:p.Asn148Ser SP substitution exon 1 VAR_000035 P33897:p.Ser149Asn SP substitution exon 1 VAR_000036 P33897:p.Arg152Cys SP substitution exon 1 VAR_000037 P33897:p.Arg152Pro SP substitution exon 1 VAR_000038 P33897:p.Arg163His SP substitution exon 1 VAR_000039 P33897:p.Tyr174Asp SP substitution exon 1 VAR_000040 P33897:p.Tyr174Ser SP substitution exon 1 VAR_000041 P33897:p.Gln178Glu SP substitution exon 1 VAR_000042 P33897:p.Tyr181Cys SP substitution exon 1 VAR_000043 P33897:p.Arg182Pro SP substitution exon 1 VAR_000044 P33897:p.Asp194His SP substitution exon 1 VAR_000045 P33897:p.Asp200Val SP substitution exon 1 VAR_000046 P33897:p.Leu211Pro SP substitution exon 1 VAR_000047 P33897:p.Leu220Pro SP substitution exon 1 VAR_000048 P33897:p.Asp221Gly SP substitution exon 1 VAR_000049 P33897:p.Thr254Met SP substitution exon 1 VAR_000050 P33897:p.Thr254Pro SP substitution exon 1 VAR_000051 P33897:p.Pro263Leu SP substitution exon 1 VAR_000052 P33897:p.Gly266Arg SP substitution exon 1 VAR_000053 P33897:p.Lys276Glu SP substitution exon 1 VAR_000054 P33897:p.Gly277Arg SP substitution exon 1 VAR_000056 P33897:p.Gly277Trp SP substitution exon 1 VAR_000057 P33897:p.Glu291Asp SP substitution exon 1 VAR_000058 P33897:p.Glu291Lys SP substitution exon 1 VAR_000060 P33897:p.Ala294Thr SP substitution exon 1 VAR_000061 P33897:p.Ser342Pro SP substitution exon 1 VAR_000062 P33897:p.Arg389Gly SP substitution exon 1 VAR_000063 P33897:p.Arg389His SP substitution exon 1 VAR_000064 P33897:p.Arg401Gln SP substitution exon 1 VAR_000065 P33897:p.Arg418Trp SP substitution exon 1 VAR_000066 P33897:p.Pro484Arg SP substitution exon 1 VAR_000067 P33897:p.Gly507Val SP substitution exon 1 VAR_000068 P33897:p.Gly512Ser SP substitution exon 1 VAR_000069 P33897:p.Ser515Phe SP substitution exon 1 VAR_000070 P33897:p.Arg518Gln SP substitution exon 1 VAR_000071 P33897:p.Arg518Trp SP substitution exon 1 VAR_000072 P33897:p.Gly522Trp SP substitution exon 1 VAR_000074 P33897:p.Pro534Leu SP substitution exon 1 VAR_000075 P33897:p.Pro560Leu SP substitution exon 1 VAR_000076 P33897:p.Pro560Arg SP substitution exon 1 VAR_000077 P33897:p.Met566Lys SP substitution exon 1 VAR_000078 P33897:p.Arg591Gln SP substitution exon 1 VAR_000079 P33897:p.Ser606Leu SP substitution exon 1 VAR_000080 P33897:p.Ser606Pro SP substitution exon 1 VAR_000081 P33897:p.Glu609Gly SP substitution exon 1 VAR_000082 P33897:p.Glu609Lys SP substitution exon 1 VAR_000083 P33897:p.Arg617Cys SP substitution exon 1 VAR_000084 P33897:p.Arg617Gly SP substitution exon 1 VAR_000085 P33897:p.Arg617His SP substitution exon 1 VAR_000086 P33897:p.Ala626Thr SP substitution exon 1 VAR_000087 P33897:p.Asp629His SP substitution exon 1 VAR_000089 P33897:p.Arg660Trp SP substitution exon 1 VAR_000090 P33897:p.Trp679Arg SP substitution exon 1 VAR_000091 P28288:p.Gly17Asp SP substitution exon 1 VAR_000099 Q92887:p.Arg768Trp SP substitution exon 1 VAR_000100 Q09428:p.Gly716Val SP substitution exon 1 VAR_000101 P13569:p.Ser13Phe SP substitution exon 1 VAR_000102 P13569:p.Arg31Cys SP substitution exon 1 VAR_000103 P13569:p.Arg31Leu SP substitution exon 1 VAR_000104 P13569:p.Ser42Phe SP substitution exon 1 VAR_000105 P13569:p.Asp44Gly SP substitution exon 1 VAR_000106 P13569:p.Asp44Val SP substitution exon 1 VAR_000107 P13569:p.Ser50Tyr SP substitution exon 1 VAR_000108 P13569:p.Trp57Gly SP substitution exon 1 VAR_000109 P13569:p.Pro67Leu SP substitution exon 1 VAR_000110 P13569:p.Arg74Trp SP substitution exon 1 VAR_000111 P13569:p.Arg75Gln SP substitution exon 1 VAR_000112 P13569:p.Gly85Glu SP substitution exon 1 VAR_000113 P13569:p.Phe87Leu SP substitution exon 1 VAR_000114 P13569:p.Gly91Arg SP substitution exon 1 VAR_000115 P13569:p.Glu92Lys SP substitution exon 1 VAR_000116 P13569:p.Gln98Arg SP substitution exon 1 VAR_000117 P13569:p.Ile105Ser SP substitution exon 1 VAR_000118 P13569:p.Tyr109Cys SP substitution exon 1 VAR_000119 P13569:p.Asp110His SP substitution exon 1 VAR_000120 P13569:p.Pro111Leu SP substitution exon 1 VAR_000121 P13569:p.Arg117Cys SP substitution exon 1 VAR_000122 P13569:p.Arg117His SP substitution exon 1 VAR_000123 P13569:p.Arg117Leu SP substitution exon 1 VAR_000124 P13569:p.Arg117Pro SP substitution exon 1 VAR_000125 P13569:p.Ala120Thr SP substitution exon 1 VAR_000126 P13569:p.His139Arg SP substitution exon 1 VAR_000127 P13569:p.Ala141Asp SP substitution exon 1 VAR_000128 P13569:p.Ile148Thr SP substitution exon 1 VAR_000129 P13569:p.Gly149Arg SP substitution exon 1 VAR_000130 P13569:p.Gly178Arg SP substitution exon 1 VAR_000132 P13569:p.Glu193Lys SP substitution exon 1 VAR_000133 P13569:p.His199Gln SP substitution exon 1 VAR_000134 P13569:p.His199Tyr SP substitution exon 1 VAR_000135 P13569:p.Pro205Ser SP substitution exon 1 VAR_000136 P13569:p.Leu206Trp SP substitution exon 1 VAR_000137 P13569:p.Cys225Arg SP substitution exon 1 VAR_000138 P13569:p.Met244Lys SP substitution exon 1 VAR_000139 P13569:p.Arg258Gly SP substitution exon 1 VAR_000140 P13569:p.Asn287Tyr SP substitution exon 1 VAR_000141 P13569:p.Arg297Gln SP substitution exon 1 VAR_000142 P13569:p.Tyr301Cys SP substitution exon 1 VAR_000143 P13569:p.Ser307Asn SP substitution exon 1 VAR_000144 P13569:p.Phe311Leu SP substitution exon 1 VAR_000146 P13569:p.Gly314Glu SP substitution exon 1 VAR_000147 P13569:p.Gly314Arg SP substitution exon 1 VAR_000148 P13569:p.Arg334Trp SP substitution exon 1 VAR_000150 P13569:p.Ile336Lys SP substitution exon 1 VAR_000151 P13569:p.Thr338Ile SP substitution exon 1 VAR_000152 P13569:p.Leu346Pro SP substitution exon 1 VAR_000153 P13569:p.Arg347His SP substitution exon 1 VAR_000154 P13569:p.Arg347Leu SP substitution exon 1 VAR_000155 P13569:p.Arg347Pro SP substitution exon 1 VAR_000156 P13569:p.Arg352Gln SP substitution exon 1 VAR_000157 P13569:p.Gln359Lys SP substitution exon 1 VAR_000160 P13569:p.Ala455Glu SP substitution exon 1 VAR_000161 P13569:p.Val456Phe SP substitution exon 1 VAR_000162 P13569:p.Gly458Val SP substitution exon 1 VAR_000163 P13569:p.Leu467Phe SP substitution exon 1 VAR_000164 P13569:p.Val470Met SP substitution exon 1 VAR_000165 P13569:p.Gly480Cys SP substitution exon 1 VAR_000166 P13569:p.Ser492Phe SP substitution exon 1 VAR_000167 P13569:p.Glu504Gln SP substitution exon 1 VAR_000168 P13569:p.Ile506Val SP substitution exon 1 VAR_000169 P13569:p.Ile507Val SP substitution exon 1 VAR_000172 P13569:p.Phe508Cys SP substitution exon 1 VAR_000173 P13569:p.Asp513Gly SP substitution exon 1 VAR_000174 P13569:p.Val520Phe SP substitution exon 1 VAR_000175 P13569:p.Gly544Val SP substitution exon 1 VAR_000176 P13569:p.Ser549Asn SP substitution exon 1 VAR_000177 P13569:p.Ser549Ile SP substitution exon 1 VAR_000178 P13569:p.Ser549Arg SP substitution exon 1 VAR_000179 P13569:p.Gly551Asp SP substitution exon 1 VAR_000180 P13569:p.Gly551Ser SP substitution exon 1 VAR_000181 P13569:p.Arg553Gln SP substitution exon 1 VAR_000182 P13569:p.Leu558Ser SP substitution exon 1 VAR_000183 P13569:p.Ala559Thr SP substitution exon 1 VAR_000184 P13569:p.Arg560Lys SP substitution exon 1 VAR_000185 P13569:p.Arg560Ser SP substitution exon 1 VAR_000186 P13569:p.Arg560Thr SP substitution exon 1 VAR_000187 P13569:p.Val562Ile SP substitution exon 1 VAR_000188 P13569:p.Val562Leu SP substitution exon 1 VAR_000189 P13569:p.Tyr563Asn SP substitution exon 1 VAR_000190 P13569:p.Tyr569Cys SP substitution exon 1 VAR_000191 P13569:p.Tyr569Asp SP substitution exon 1 VAR_000192 P13569:p.Tyr569His SP substitution exon 1 VAR_000193 P13569:p.Leu571Ser SP substitution exon 1 VAR_000194 P13569:p.Asp572Asn SP substitution exon 1 VAR_000195 P13569:p.Pro574His SP substitution exon 1 VAR_000196 P13569:p.Gly576Ala SP substitution exon 1 VAR_000197 P13569:p.Asp579Gly SP substitution exon 1 VAR_000198 P13569:p.Ile601Phe SP substitution exon 1 VAR_000199 P13569:p.Leu610Ser SP substitution exon 1 VAR_000200 P13569:p.Ala613Thr SP substitution exon 1 VAR_000201 P13569:p.Asp614Gly SP substitution exon 1 VAR_000202 P13569:p.Ile618Thr SP substitution exon 1 VAR_000203 P13569:p.Leu619Ser SP substitution exon 1 VAR_000204 P13569:p.His620Pro SP substitution exon 1 VAR_000205 P13569:p.His620Gln SP substitution exon 1 VAR_000206 P13569:p.Gly622Asp SP substitution exon 1 VAR_000207 P13569:p.Gly628Arg SP substitution exon 1 VAR_000208 P13569:p.Leu633Pro SP substitution exon 1 VAR_000209 P13569:p.Asp648Val SP substitution exon 1 VAR_000210 P13569:p.Asp651Asn SP substitution exon 1 VAR_000211 P13569:p.Thr665Ser SP substitution exon 1 VAR_000212 P13569:p.Arg668Cys SP substitution exon 1 VAR_000213 P13569:p.Phe693Leu SP substitution exon 1 VAR_000214 P13569:p.Val754Met SP substitution exon 1 VAR_000215 P13569:p.Arg766Met SP substitution exon 1 VAR_000216 P13569:p.Arg792Gly SP substitution exon 1 VAR_000217 P13569:p.Ala800Gly SP substitution exon 1 VAR_000218 P13569:p.Ile807Met SP substitution exon 1 VAR_000219 P13569:p.Glu822Lys SP substitution exon 1 VAR_000220 P13569:p.Glu826Lys SP substitution exon 1 VAR_000221 P13569:p.Cys866Tyr SP substitution exon 1 VAR_000271 P05166:p.Arg44Pro SP substitution exon 1 VAR_000272 P05166:p.Ser106Arg SP substitution exon 1 VAR_000273 P05166:p.Gly131Arg SP substitution exon 1 VAR_000274 P05166:p.Arg165Trp SP substitution exon 1 VAR_000275 P05166:p.Glu168Lys SP substitution exon 1 VAR_000276 P05166:p.Gly198Asp SP substitution exon 1 VAR_000278 P05166:p.Arg410Trp SP substitution exon 1 VAR_000279 P05166:p.Ala497Val SP substitution exon 1 VAR_000280 P05166:p.Arg512Cys SP substitution exon 1 VAR_000281 P05166:p.Leu519Pro SP substitution exon 1 VAR_000282 P02708:p.Gly198Ser SP substitution exon 1 VAR_000283 P02708:p.Val201Met SP substitution exon 1 VAR_000284 P02708:p.Asn262Lys SP substitution exon 1 VAR_000285 P02708:p.Thr299Ile SP substitution exon 1 VAR_000286 P02708:p.Ser314Ile SP substitution exon 1 VAR_000287 P11230:p.Leu285Met SP substitution exon 1 VAR_000288 P11230:p.Val289Met SP substitution exon 1 VAR_000289 Q04844:p.Pro141Leu SP substitution exon 1 VAR_000290 Q04844:p.Arg167Leu SP substitution exon 1 VAR_000291 Q04844:p.Pro265Leu SP substitution exon 1 VAR_000292 Q04844:p.Thr284Pro SP substitution exon 1 VAR_000293 Q04844:p.Leu289Phe SP substitution exon 1 VAR_000294 Q04844:p.Arg331Trp SP substitution exon 1 VAR_000295 P43681:p.Ser280Phe SP substitution exon 1 VAR_000296 P23415:p.Ile272Asn SP substitution exon 1 VAR_000297 P23415:p.Gln294His SP substitution exon 1 VAR_000298 P23415:p.Arg299Leu SP substitution exon 1 VAR_000299 P23415:p.Arg299Gln SP substitution exon 1 VAR_000300 P23415:p.Lys304Glu SP substitution exon 1 VAR_000301 P23415:p.Tyr307Cys SP substitution exon 1 VAR_000302 P18505:p.His421Gln SP substitution exon 1 VAR_000303 P42262:p.Gln607Arg SP substitution exon 1 VAR_000304 P39086:p.Gln636Arg SP substitution exon 1 VAR_000305 Q13002:p.Ile567Val SP substitution exon 1 VAR_000306 Q13002:p.Tyr571Cys SP substitution exon 1 VAR_000308 Q13003:p.Ser310Ala SP substitution exon 1 VAR_000309 Q13003:p.Arg352Gln SP substitution exon 1 VAR_000310 P16219:p.Arg46Trp SP substitution exon 1 VAR_000311 P16219:p.Gly92Cys SP substitution exon 1 VAR_000312 P16219:p.Arg107Cys SP substitution exon 1 VAR_000314 P16219:p.Trp177Arg SP substitution exon 1 VAR_000315 P16219:p.Gly209Ser SP substitution exon 1 VAR_000316 P16219:p.Arg383Cys SP substitution exon 1 VAR_000317 P11310:p.Arg53Cys SP substitution exon 1 VAR_000319 P11310:p.Met149Ile SP substitution exon 1 VAR_000320 P11310:p.Thr193Ala SP substitution exon 1 VAR_000321 P11310:p.Gly195Arg SP substitution exon 1 VAR_000328 P28330:p.Ser303Thr SP substitution exon 1 VAR_000329 P28330:p.Lys333Gln SP substitution exon 1 VAR_000330 P49748:p.Gly43Asp SP substitution exon 1 VAR_000332 P49748:p.Thr158Asn SP substitution exon 1 VAR_000333 P49748:p.Gln159Arg SP substitution exon 1 VAR_000334 P49748:p.Val174Met SP substitution exon 1 VAR_000335 P49748:p.Gly185Ser SP substitution exon 1 VAR_000336 P49748:p.Glu218Lys SP substitution exon 1 VAR_000337 P49748:p.Leu243Arg SP substitution exon 1 VAR_000338 P49748:p.Lys247Thr SP substitution exon 1 VAR_000339 P49748:p.Thr260Met SP substitution exon 1 VAR_000341 P49748:p.Ala281Asp SP substitution exon 1 VAR_000342 P49748:p.Val283Ala SP substitution exon 1 VAR_000343 P49748:p.Gly290Asp SP substitution exon 1 VAR_000344 P49748:p.Gly294Glu SP substitution exon 1 VAR_000345 P49748:p.Lys299Asn SP substitution exon 1 VAR_000347 P49748:p.Val317Ala SP substitution exon 1 VAR_000348 P49748:p.Met352Val SP substitution exon 1 VAR_000349 P49748:p.Arg366Cys SP substitution exon 1 VAR_000350 P49748:p.Arg366His SP substitution exon 1 VAR_000352 P49748:p.Lys382Gln SP substitution exon 1 VAR_000353 P49748:p.Asp405His SP substitution exon 1 VAR_000354 P49748:p.Gly441Asp SP substitution exon 1 VAR_000355 P49748:p.Arg450His SP substitution exon 1 VAR_000356 P49748:p.Arg453Gln SP substitution exon 1 VAR_000357 P49748:p.Asp454Asn SP substitution exon 1 VAR_000358 P49748:p.Arg456His SP substitution exon 1 VAR_000359 P49748:p.Arg459Trp SP substitution exon 1 VAR_000360 P49748:p.Gly463Glu SP substitution exon 1 VAR_000361 P49748:p.Arg469Gln SP substitution exon 1 VAR_000362 P49748:p.Arg469Trp SP substitution exon 1 VAR_000363 P49748:p.Leu502Pro SP substitution exon 1 VAR_000366 Q92947:p.Arg88Cys SP substitution exon 1 VAR_000367 Q92947:p.Arg94Leu SP substitution exon 1 VAR_000368 Q92947:p.Gly101Arg SP substitution exon 1 VAR_000369 Q92947:p.Cys115Tyr SP substitution exon 1 VAR_000370 Q92947:p.Ala122Val SP substitution exon 1 VAR_000371 Q92947:p.Arg128Gly SP substitution exon 1 VAR_000372 Q92947:p.Arg138Gly SP substitution exon 1 VAR_000373 Q92947:p.Ser139Leu SP substitution exon 1 VAR_000374 Q92947:p.Val148Ile SP substitution exon 1 VAR_000375 Q92947:p.Arg161Gln SP substitution exon 1 VAR_000376 Q92947:p.Gly178Arg SP substitution exon 1 VAR_000377 Q92947:p.Leu179Arg SP substitution exon 1 VAR_000378 Q92947:p.Met191Thr SP substitution exon 1 VAR_000379 Q92947:p.Ala195Thr SP substitution exon 1 VAR_000380 Q92947:p.Arg227Pro SP substitution exon 1 VAR_000381 Q92947:p.Phe236Leu SP substitution exon 1 VAR_000382 Q92947:p.Arg257Gln SP substitution exon 1 VAR_000383 Q92947:p.Arg257Trp SP substitution exon 1 VAR_000384 Q92947:p.Met266Val SP substitution exon 1 VAR_000385 Q92947:p.Pro278Ser SP substitution exon 1 VAR_000386 Q92947:p.Leu283Pro SP substitution exon 1 VAR_000387 Q92947:p.Ala293Thr SP substitution exon 1 VAR_000388 Q92947:p.Arg294Trp SP substitution exon 1 VAR_000389 Q92947:p.Tyr295His SP substitution exon 1 VAR_000390 Q92947:p.Ala298Thr SP substitution exon 1 VAR_000391 Q92947:p.Ala298Val SP substitution exon 1 VAR_000392 Q92947:p.Ser305Leu SP substitution exon 1 VAR_000393 Q92947:p.Cys308Ser SP substitution exon 1 VAR_000394 Q92947:p.Leu309Trp SP substitution exon 1 VAR_000395 Q92947:p.Arg313Trp SP substitution exon 1 VAR_000396 Q92947:p.Gln333Glu SP substitution exon 1 VAR_000397 Q92947:p.Ala349Thr SP substitution exon 1 VAR_000398 Q92947:p.Gly354Arg SP substitution exon 1 VAR_000399 Q92947:p.Gly354Ser SP substitution exon 1 VAR_000400 Q92947:p.Arg355Cys SP substitution exon 1 VAR_000401 Q92947:p.Arg355His SP substitution exon 1 VAR_000402 Q92947:p.Glu365Lys SP substitution exon 1 VAR_000403 Q92947:p.Cys375Arg SP substitution exon 1 VAR_000404 Q92947:p.Ala382Thr SP substitution exon 1 VAR_000405 Q92947:p.Arg383Cys SP substitution exon 1 VAR_000406 Q92947:p.Arg383His SP substitution exon 1 VAR_000407 Q92947:p.Arg386Gln SP substitution exon 1 VAR_000408 Q92947:p.Gly390Arg SP substitution exon 1 VAR_000409 Q92947:p.Gly390Ala SP substitution exon 1 VAR_000410 Q92947:p.Asn392Asp SP substitution exon 1 VAR_000411 Q92947:p.Val400Met SP substitution exon 1 VAR_000412 Q92947:p.Arg402Trp SP substitution exon 1 VAR_000413 Q92947:p.Arg402Gln SP substitution exon 1 VAR_000414 Q92947:p.His403Arg SP substitution exon 1 VAR_000415 Q92947:p.Asn406Lys SP substitution exon 1 VAR_000416 Q92947:p.Leu407Pro SP substitution exon 1 VAR_000417 Q92947:p.Glu414Lys SP substitution exon 1 VAR_000418 Q92947:p.Thr416Ile SP substitution exon 1 VAR_000419 Q92947:p.Ala421Thr SP substitution exon 1 VAR_000420 Q92947:p.Ala421Val SP substitution exon 1 VAR_000421 Q92947:p.Thr429Met SP substitution exon 1 VAR_000422 Q92947:p.Ala433Glu SP substitution exon 1 VAR_000423 P26440:p.Leu42Pro SP substitution exon 1 VAR_000424 P26440:p.Gly199Val SP substitution exon 1 VAR_000426 P00325:p.Arg48His SP substitution exon 1 VAR_000430 Q00796:p.Gln239Leu SP substitution exon 1 VAR_000431 P06280:p.Leu32Pro SP substitution exon 1 VAR_000432 P06280:p.Asn34Ser SP substitution exon 1 VAR_000433 P06280:p.Gly35Arg SP substitution exon 1 VAR_000434 P06280:p.Pro40Ser SP substitution exon 1 VAR_000435 P06280:p.Arg49Leu SP substitution exon 1 VAR_000436 P06280:p.Cys52Arg SP substitution exon 1 VAR_000437 P06280:p.Cys52Ser SP substitution exon 1 VAR_000438 P06280:p.Cys56Phe SP substitution exon 1 VAR_000439 P06280:p.Cys56Gly SP substitution exon 1 VAR_000440 P06280:p.Glu59Lys SP substitution exon 1 VAR_000441 P06280:p.Glu66Gln SP substitution exon 1 VAR_000442 P06280:p.Met72Val SP substitution exon 1 VAR_000443 P06280:p.Gly85Asp SP substitution exon 1 VAR_000444 P06280:p.Leu89Arg SP substitution exon 1 VAR_000445 P06280:p.Arg100Lys SP substitution exon 1 VAR_000447 P06280:p.Arg112Cys SP substitution exon 1 VAR_000448 P06280:p.Arg112His SP substitution exon 1 VAR_000450 P06280:p.Gly128Glu SP substitution exon 1 VAR_000451 P06280:p.Leu131Pro SP substitution exon 1 VAR_000452 P06280:p.Cys142Tyr SP substitution exon 1 VAR_000453 P06280:p.Ala143Pro SP substitution exon 1 VAR_000454 P06280:p.Gly144Val SP substitution exon 1 VAR_000455 P06280:p.Pro146Ser SP substitution exon 1 VAR_000456 P06280:p.Ala156Thr SP substitution exon 1 VAR_000457 P06280:p.Ala156Val SP substitution exon 1 VAR_000458 P06280:p.Trp162Arg SP substitution exon 1 VAR_000459 P06280:p.Asp165Val SP substitution exon 1 VAR_000460 P06280:p.Leu166Val SP substitution exon 1 VAR_000461 P06280:p.Cys172Tyr SP substitution exon 1 VAR_000462 P06280:p.Cys202Trp SP substitution exon 1 VAR_000463 P06280:p.Pro205Thr SP substitution exon 1 VAR_000464 P06280:p.Asn215Ser SP substitution exon 1 VAR_000465 P06280:p.Ile219Asn SP substitution exon 1 VAR_000466 P06280:p.Asn224Asp SP substitution exon 1 VAR_000467 P06280:p.Arg227Gln SP substitution exon 1 VAR_000468 P06280:p.Asp231Asn SP substitution exon 1 VAR_000469 P06280:p.Asp244Asn SP substitution exon 1 VAR_000471 P06280:p.Asp264Val SP substitution exon 1 VAR_000472 P06280:p.Asp266Val SP substitution exon 1 VAR_000473 P06280:p.Val269Ala SP substitution exon 1 VAR_000474 P06280:p.Asn272Lys SP substitution exon 1 VAR_000475 P06280:p.Gln279Glu SP substitution exon 1 VAR_000476 P06280:p.Met284Thr SP substitution exon 1 VAR_000477 P06280:p.Ala288Asp SP substitution exon 1 VAR_000478 P06280:p.Met296Val SP substitution exon 1 VAR_000479 P06280:p.Ser297Phe SP substitution exon 1 VAR_000480 P06280:p.Asn298Lys SP substitution exon 1 VAR_000481 P06280:p.Arg301Gln SP substitution exon 1 VAR_000482 P06280:p.Asp313Tyr SP substitution exon 1 VAR_000483 P06280:p.Val316Glu SP substitution exon 1 VAR_000484 P06280:p.Gln327Lys SP substitution exon 1 VAR_000485 P06280:p.Gly328Arg SP substitution exon 1 VAR_000486 P06280:p.Gly328Ala SP substitution exon 1 VAR_000487 P06280:p.Arg342Gln SP substitution exon 1 VAR_000488 P06280:p.Arg356Trp SP substitution exon 1 VAR_000489 P06280:p.Glu358Lys SP substitution exon 1 VAR_000491 P06280:p.Gly361Arg SP substitution exon 1 VAR_000493 P06280:p.Phe396Tyr SP substitution exon 1 VAR_000496 P17050:p.Ser160Cys SP substitution exon 1 VAR_000497 P17050:p.Glu325Lys SP substitution exon 1 VAR_000498 P17050:p.Arg329Trp SP substitution exon 1 VAR_000499 P02768:p.Arg23Cys SP substitution exon 1 VAR_000500 P02768:p.Arg23His SP substitution exon 1 VAR_000501 P02768:p.Arg24Leu SP substitution exon 1 VAR_000502 P02768:p.Arg24Pro SP substitution exon 1 VAR_000503 P02768:p.Arg24Gln SP substitution exon 1 VAR_000504 P02768:p.Asp25Val SP substitution exon 1 VAR_000505 P02768:p.His27Gln SP substitution exon 1 VAR_000506 P02768:p.His27Tyr SP substitution exon 1 VAR_000507 P02768:p.Glu84Lys SP substitution exon 1 VAR_000508 P02768:p.Asp87Asn SP substitution exon 1 VAR_000509 P02768:p.Glu106Lys SP substitution exon 1 VAR_000510 P02768:p.Arg138Gly SP substitution exon 1 VAR_000511 P02768:p.Glu143Lys SP substitution exon 1 VAR_000512 P02768:p.His152Arg SP substitution exon 1 VAR_000513 P02768:p.Cys201Phe SP substitution exon 1 VAR_000514 P02768:p.Arg242His SP substitution exon 1 VAR_000515 P02768:p.Lys249Gln SP substitution exon 1 VAR_000516 P02768:p.Lys264Glu SP substitution exon 1 VAR_000517 P02768:p.Gln292Arg SP substitution exon 1 VAR_000518 P02768:p.Asp293Gly SP substitution exon 1 VAR_000519 P02768:p.Lys300Asn SP substitution exon 1 VAR_000520 P02768:p.Lys337Asn SP substitution exon 1 VAR_000521 P02768:p.Asn342Lys SP substitution exon 1 VAR_000522 P02768:p.Ala344Thr SP substitution exon 1 VAR_000523 P02768:p.Glu345Lys SP substitution exon 1 VAR_000524 P02768:p.Glu357Lys SP substitution exon 1 VAR_000525 P02768:p.Glu378Lys SP substitution exon 1 VAR_000526 P02768:p.Glu382Lys SP substitution exon 1 VAR_000527 P02768:p.Asp389His SP substitution exon 1 VAR_000528 P02768:p.Asp389Val SP substitution exon 1 VAR_000529 P02768:p.Lys396Glu SP substitution exon 1 VAR_000530 P02768:p.Asp399Asn SP substitution exon 1 VAR_000531 P02768:p.Glu400Lys SP substitution exon 1 VAR_000532 P02768:p.Glu400Gln SP substitution exon 1 VAR_000533 P02768:p.Glu406Lys SP substitution exon 1 VAR_000550 P04075:p.Asp129Gly SP substitution exon 1 VAR_000551 P05062:p.Cys135Arg SP substitution exon 1 VAR_000552 P05062:p.Trp148Arg SP substitution exon 1 VAR_000553 P05062:p.Ala150Pro SP substitution exon 1 VAR_000554 P05062:p.Ala175Asp SP substitution exon 1 VAR_000555 P05062:p.Leu257Pro SP substitution exon 1 VAR_000556 P05062:p.Arg304Trp SP substitution exon 1 VAR_000557 P05062:p.Asn335Lys SP substitution exon 1 VAR_000558 P05062:p.Ala338Val SP substitution exon 1 VAR_000560 P17735:p.Gly362Val SP substitution exon 1 VAR_000561 P24298:p.His14Asn SP substitution exon 1 VAR_000562 P22557:p.Thr388Ser SP substitution exon 1 VAR_000563 P22557:p.Arg411Cys SP substitution exon 1 VAR_000564 P22557:p.Ile476Asn SP substitution exon 1 VAR_000565 P04181:p.Asn54Lys SP substitution exon 1 VAR_000566 P04181:p.Tyr55His SP substitution exon 1 VAR_000567 P04181:p.Asn89Lys SP substitution exon 1 VAR_000568 P04181:p.Cys93Phe SP substitution exon 1 VAR_000569 P04181:p.Arg154Leu SP substitution exon 1 VAR_000570 P04181:p.Arg180Thr SP substitution exon 1 VAR_000572 P04181:p.Ala226Val SP substitution exon 1 VAR_000573 P04181:p.Pro241Leu SP substitution exon 1 VAR_000574 P04181:p.Tyr245Cys SP substitution exon 1 VAR_000575 P04181:p.Arg250Pro SP substitution exon 1 VAR_000576 P04181:p.Thr267Ile SP substitution exon 1 VAR_000577 P04181:p.Ala270Pro SP substitution exon 1 VAR_000578 P04181:p.Arg271Lys SP substitution exon 1 VAR_000587 P21549:p.Pro11Leu SP substitution exon 1 VAR_000588 P21549:p.Gly41Arg SP substitution exon 1 VAR_000589 P21549:p.Phe152Ile SP substitution exon 1 VAR_000590 P21549:p.Gly170Arg SP substitution exon 1 VAR_000591 P21549:p.Ser187Phe SP substitution exon 1 VAR_000595 P16157:p.Arg21Thr SP substitution exon 1 VAR_000596 P16157:p.Val463Ile SP substitution exon 1 VAR_000597 P16157:p.Arg619His SP substitution exon 1 VAR_000598 P16157:p.Val750Ala SP substitution exon 1 VAR_000599 P16157:p.Asp845Glu SP substitution exon 1 VAR_000600 P16157:p.Ser1392Thr SP substitution exon 1 VAR_000601 P16157:p.Glu1286Asp SP substitution exon 1 VAR_000602 P16157:p.Asp1592Asn SP substitution exon 1 VAR_000605 P02647:p.Pro27His SP substitution exon 1 VAR_000606 P02647:p.Pro27Arg SP substitution exon 1 VAR_000607 P02647:p.Pro28Arg SP substitution exon 1 VAR_000608 P02647:p.Arg34Leu SP substitution exon 1 VAR_000609 P02647:p.Gly50Arg SP substitution exon 1 VAR_000610 P02647:p.Leu84Arg SP substitution exon 1 VAR_000611 P02647:p.Asp113Glu SP substitution exon 1 VAR_000612 P02647:p.Ala119Asp SP substitution exon 1 VAR_000613 P02647:p.Asp127Asn SP substitution exon 1 VAR_000615 P02647:p.Lys131Met SP substitution exon 1 VAR_000616 P02647:p.Trp132Arg SP substitution exon 1 VAR_000617 P02647:p.Glu134Lys SP substitution exon 1 VAR_000618 P02647:p.Glu160Lys SP substitution exon 1 VAR_000619 P02647:p.Glu163Gly SP substitution exon 1 VAR_000620 P02647:p.Pro167Arg SP substitution exon 1 VAR_000621 P02647:p.Leu168Arg SP substitution exon 1 VAR_000622 P02647:p.Glu171Val SP substitution exon 1 VAR_000623 P02647:p.Pro189Arg SP substitution exon 1 VAR_000624 P02647:p.Arg197Cys SP substitution exon 1 VAR_000625 P02647:p.Glu222Lys SP substitution exon 1 VAR_000626 P06727:p.Val13Met SP substitution exon 1 VAR_000627 P06727:p.Glu44Lys SP substitution exon 1 VAR_000628 P06727:p.Asn147Ser SP substitution exon 1 VAR_000629 P06727:p.Ala161Ser SP substitution exon 1 VAR_000630 P06727:p.Ser178Leu SP substitution exon 1 VAR_000631 P06727:p.Glu185Lys SP substitution exon 1 VAR_000632 P06727:p.Lys187Glu SP substitution exon 1 VAR_000633 P06727:p.Glu250Lys SP substitution exon 1 VAR_000634 P06727:p.Arg264Gln SP substitution exon 1 VAR_000635 P06727:p.Arg305Cys SP substitution exon 1 VAR_000636 P06727:p.Thr367Ser SP substitution exon 1 VAR_000637 P06727:p.Gln380His SP substitution exon 1 VAR_000643 P02656:p.Lys78Glu SP substitution exon 1 VAR_000644 P02656:p.Thr94Ala SP substitution exon 1 VAR_000645 P02649:p.Glu21Lys SP substitution exon 1 VAR_000646 P02649:p.Glu31Lys SP substitution exon 1 VAR_000647 P02649:p.Leu46Pro SP substitution exon 1 VAR_000648 P02649:p.Thr60Ala SP substitution exon 1 VAR_000649 P02649:p.Gln99Lys SP substitution exon 1 VAR_000650 P02649:p.Pro102Arg SP substitution exon 1 VAR_000651 P02649:p.Ala117Thr SP substitution exon 1 VAR_000652 P02649:p.Cys130Arg SP substitution exon 1 VAR_000653 P02649:p.Gly145Asp SP substitution exon 1 VAR_000655 P02649:p.Arg152Gln SP substitution exon 1 VAR_000656 P02649:p.Arg154Ser SP substitution exon 1 VAR_000657 P02649:p.Arg154Cys SP substitution exon 1 VAR_000658 P02649:p.Arg160Cys SP substitution exon 1 VAR_000659 P02649:p.Arg163Cys SP substitution exon 1 VAR_000660 P02649:p.Arg163His SP substitution exon 1 VAR_000661 P02649:p.Lys164Gln SP substitution exon 1 VAR_000662 P02649:p.Lys164Glu SP substitution exon 1 VAR_000663 P02649:p.Ala170Pro SP substitution exon 1 VAR_000664 P02649:p.Arg176Cys SP substitution exon 1 VAR_000665 P02649:p.Arg242Gln SP substitution exon 1 VAR_000666 P02649:p.Arg246Cys SP substitution exon 1 VAR_000667 P02649:p.Val254Glu SP substitution exon 1 VAR_000669 P02649:p.Arg269Gly SP substitution exon 1 VAR_000670 P02649:p.Leu270Glu SP substitution exon 1 VAR_000671 P02649:p.Arg292His SP substitution exon 1 VAR_000672 P02649:p.Ser314Arg SP substitution exon 1 VAR_000673 P02749:p.Val266Leu SP substitution exon 1 VAR_000676 P04424:p.Arg95Cys SP substitution exon 1 VAR_000677 P04424:p.Arg111Trp SP substitution exon 1 VAR_000678 P04424:p.Arg193Gln SP substitution exon 1 VAR_000679 P04424:p.Gln286Arg SP substitution exon 1 VAR_000680 P30566:p.Ser438Pro SP substitution exon 1 VAR_000681 P00966:p.Gly14Ser SP substitution exon 1 VAR_000682 P00966:p.Ser18Leu SP substitution exon 1 VAR_000683 P00966:p.Arg86Cys SP substitution exon 1 VAR_000684 P00966:p.Ala118Thr SP substitution exon 1 VAR_000685 P00966:p.Arg157His SP substitution exon 1 VAR_000686 P00966:p.Ser180Asn SP substitution exon 1 VAR_000687 P00966:p.Ala192Val SP substitution exon 1 VAR_000688 P00966:p.Arg272Cys SP substitution exon 1 VAR_000689 P00966:p.Gly280Arg SP substitution exon 1 VAR_000690 P00966:p.Arg304Trp SP substitution exon 1 VAR_000691 P00966:p.Gly324Ser SP substitution exon 1 VAR_000692 P00966:p.Arg363Leu SP substitution exon 1 VAR_000693 P00966:p.Arg363Trp SP substitution exon 1 VAR_000694 P00966:p.Gly390Arg SP substitution exon 1 VAR_000695 P55809:p.Thr58Met SP substitution exon 1 VAR_000696 P55809:p.Val133Glu SP substitution exon 1 VAR_000697 P55809:p.Cys456Phe SP substitution exon 1 VAR_000699 Q04656:p.Ala629Pro SP substitution exon 1 VAR_000700 Q04656:p.Gly727Arg SP substitution exon 1 VAR_000701 Q04656:p.Leu1006Pro SP substitution exon 1 VAR_000702 Q04656:p.Gly1019Asp SP substitution exon 1 VAR_000703 P35670:p.Gly85Val SP substitution exon 1 VAR_000704 P35670:p.Gly96Asp SP substitution exon 1 VAR_000705 P35670:p.Ile390Val SP substitution exon 1 VAR_000706 P35670:p.Ser406Ala SP substitution exon 1 VAR_000707 P35670:p.Val446Leu SP substitution exon 1 VAR_000708 P35670:p.Val456Leu SP substitution exon 1 VAR_000709 P35670:p.Leu466Val SP substitution exon 1 VAR_000710 P35670:p.Leu492Ser SP substitution exon 1 VAR_000711 P35670:p.Asn565Ser SP substitution exon 1 VAR_000712 P35670:p.Gly626Ala SP substitution exon 1 VAR_000713 P35670:p.Asp642His SP substitution exon 1 VAR_000714 P35670:p.Met645Arg SP substitution exon 1 VAR_000715 P35670:p.Met665Ile SP substitution exon 1 VAR_000716 P35670:p.Gly691Arg SP substitution exon 1 VAR_000717 P35670:p.Leu708Pro SP substitution exon 1 VAR_000718 P35670:p.Gly710Arg SP substitution exon 1 VAR_000719 P35670:p.Gly710Ser SP substitution exon 1 VAR_000720 P35670:p.Gly711Glu SP substitution exon 1 VAR_000721 P35670:p.Tyr713Cys SP substitution exon 1 VAR_000722 P35670:p.Arg723Gly SP substitution exon 1 VAR_000798 P02730:p.Glu40Lys SP substitution exon 1 VAR_000799 P02730:p.Lys56Glu SP substitution exon 1 VAR_000800 P02730:p.Pro327Arg SP substitution exon 1 VAR_000802 P02730:p.Arg518Cys SP substitution exon 1 VAR_000809 P35240:p.Leu46Arg SP substitution exon 1 VAR_000810 P35240:p.Phe62Ser SP substitution exon 1 VAR_000811 P35240:p.Lys79Glu SP substitution exon 1 VAR_000813 P35240:p.Glu106Gly SP substitution exon 1 VAR_000814 P35240:p.Leu117Ile SP substitution exon 1 VAR_000817 P35240:p.Val219Met SP substitution exon 1 VAR_000818 P35240:p.Asn220Tyr SP substitution exon 1 VAR_000819 P35240:p.Ile273Phe SP substitution exon 1 VAR_000820 P35240:p.Leu339Phe SP substitution exon 1 VAR_000821 P35240:p.Thr352Met SP substitution exon 1 VAR_000822 P35240:p.Leu360Pro SP substitution exon 1 VAR_000823 P35240:p.Lys364Ile SP substitution exon 1 VAR_000824 P35240:p.Arg418Cys SP substitution exon 1 VAR_000825 P35240:p.Leu535Pro SP substitution exon 1 VAR_000826 P35240:p.Gln538Pro SP substitution exon 1 VAR_000827 P10415:p.Thr7Ser SP substitution exon 1 VAR_000828 P10415:p.Pro59Ser SP substitution exon 1 VAR_000829 P10415:p.Val93Ile SP substitution exon 1 VAR_000830 O76090:p.Thr6Pro SP substitution exon 1 VAR_000831 O76090:p.Val9Ala SP substitution exon 1 VAR_000832 O76090:p.Val9Met SP substitution exon 1 VAR_000833 O76090:p.Ala10Thr SP substitution exon 1 VAR_000834 O76090:p.Leu21Val SP substitution exon 1 VAR_000835 O76090:p.Trp24Cys SP substitution exon 1 VAR_000836 O76090:p.Arg25Gln SP substitution exon 1 VAR_000837 O76090:p.Arg25Trp SP substitution exon 1 VAR_000838 O76090:p.Ser27Arg SP substitution exon 1 VAR_000839 O76090:p.Gln58Leu SP substitution exon 1 VAR_000840 O76090:p.Leu67Val SP substitution exon 1 VAR_000841 O76090:p.Tyr85His SP substitution exon 1 VAR_000842 O76090:p.Arg92Ser SP substitution exon 1 VAR_000843 O76090:p.Trp93Cys SP substitution exon 1 VAR_000844 O76090:p.Asn99Lys SP substitution exon 1 VAR_000845 O76090:p.Leu100Arg SP substitution exon 1 VAR_000846 O76090:p.Asp104Glu SP substitution exon 1 VAR_000847 O76090:p.Arg141His SP substitution exon 1 VAR_000848 O76090:p.Ser209Asn SP substitution exon 1 VAR_000849 O76090:p.Arg218Cys SP substitution exon 1 VAR_000850 O76090:p.Arg218Gln SP substitution exon 1 VAR_000851 O76090:p.Arg218Ser SP substitution exon 1 VAR_000852 O76090:p.Leu224Met SP substitution exon 1 VAR_000853 O76090:p.Tyr227Cys SP substitution exon 1 VAR_000854 O76090:p.Tyr227Asn SP substitution exon 1 VAR_000855 O76090:p.Ser231Arg SP substitution exon 1 VAR_000856 O76090:p.Val235Met SP substitution exon 1 VAR_000857 O76090:p.Thr237Arg SP substitution exon 1 VAR_000858 O76090:p.Ala243Val SP substitution exon 1 VAR_000860 O76090:p.Pro297Ala SP substitution exon 1 VAR_000861 O76090:p.Gly299Glu SP substitution exon 1 VAR_000862 O76090:p.Glu300Lys SP substitution exon 1 VAR_000863 O76090:p.Asp301Glu SP substitution exon 1 VAR_000864 O76090:p.Asp301Asn SP substitution exon 1 VAR_000865 O76090:p.Phe305Ser SP substitution exon 1 VAR_000866 O76090:p.Ile310Thr SP substitution exon 1 VAR_000867 O76090:p.Val311Gly SP substitution exon 1 VAR_000868 O76090:p.Asp312Asn SP substitution exon 1 VAR_000869 P00439:p.Ser16Pro SP substitution exon 1 VAR_000870 P00439:p.Phe39Leu SP substitution exon 1 VAR_000872 P00439:p.Ser40Leu SP substitution exon 1 VAR_000873 P00439:p.Leu41Phe SP substitution exon 1 VAR_000874 P00439:p.Lys42Ile SP substitution exon 1 VAR_000875 P00439:p.Gly46Ser SP substitution exon 1 VAR_000876 P00439:p.Ala47Val SP substitution exon 1 VAR_000877 P00439:p.Leu48Ser SP substitution exon 1 VAR_000878 P00439:p.Arg53His SP substitution exon 1 VAR_000879 P00439:p.Phe55Leu SP substitution exon 1 VAR_000880 P00439:p.Glu56Asp SP substitution exon 1 VAR_000882 P00439:p.Ile65Asn SP substitution exon 1 VAR_000883 P00439:p.Ile65Thr SP substitution exon 1 VAR_000884 P00439:p.Ser67Pro SP substitution exon 1 VAR_000885 P00439:p.Arg68Ser SP substitution exon 1 VAR_000886 P00439:p.Glu76Ala SP substitution exon 1 VAR_000887 P00439:p.Asp84Tyr SP substitution exon 1 VAR_000888 P00439:p.Ser87Arg SP substitution exon 1 VAR_000889 P00439:p.Thr92Ile SP substitution exon 1 VAR_000891 P00439:p.Leu98Ser SP substitution exon 1 VAR_000892 P00439:p.Ala104Asp SP substitution exon 1 VAR_000893 P00439:p.Thr124Ile SP substitution exon 1 VAR_000894 P00439:p.Asp129Tyr SP substitution exon 1 VAR_000895 P00439:p.Asp143Gly SP substitution exon 1 VAR_000896 P00439:p.His146Tyr SP substitution exon 1 VAR_000897 P00439:p.Gly148Ser SP substitution exon 1 VAR_000898 P00439:p.Asp151His SP substitution exon 1 VAR_000899 P00439:p.Tyr154Asn SP substitution exon 1 VAR_000900 P00439:p.Arg157Asn SP substitution exon 1 VAR_000901 P00439:p.Arg158Gln SP substitution exon 1 VAR_000902 P00439:p.Arg158Trp SP substitution exon 1 VAR_000903 P00439:p.Gln160Pro SP substitution exon 1 VAR_000904 P00439:p.Phe161Ser SP substitution exon 1 VAR_000905 P00439:p.Ile164Thr SP substitution exon 1 VAR_000906 P00439:p.Asn167Ile SP substitution exon 1 VAR_000907 P00439:p.His170Arg SP substitution exon 1 VAR_000908 P00439:p.Gly171Ala SP substitution exon 1 VAR_000909 P00439:p.Gly171Arg SP substitution exon 1 VAR_000910 P00439:p.Pro173Thr SP substitution exon 1 VAR_000911 P00439:p.Ile174Thr SP substitution exon 1 VAR_000912 P00439:p.Pro175Ala SP substitution exon 1 VAR_000913 P00439:p.Arg176Leu SP substitution exon 1 VAR_000914 P00439:p.Arg176Pro SP substitution exon 1 VAR_000915 P00439:p.Val177Leu SP substitution exon 1 VAR_000916 P00439:p.Glu178Gly SP substitution exon 1 VAR_000917 P00439:p.Val190Ala SP substitution exon 1 VAR_000918 P00439:p.Leu194Pro SP substitution exon 1 VAR_000922 P00439:p.His201Arg SP substitution exon 1 VAR_000923 P00439:p.His201Tyr SP substitution exon 1 VAR_000924 P00439:p.Tyr204Cys SP substitution exon 1 VAR_000925 P00439:p.Tyr206Asp SP substitution exon 1 VAR_000926 P00439:p.Asn207Asp SP substitution exon 1 VAR_000927 P00439:p.Asn207Ser SP substitution exon 1 VAR_000928 P00439:p.Pro211Thr SP substitution exon 1 VAR_000929 P00439:p.Leu212Pro SP substitution exon 1 VAR_000930 P00439:p.Leu213Pro SP substitution exon 1 VAR_000931 P00439:p.Cys217Gly SP substitution exon 1 VAR_000932 P00439:p.Gly218Val SP substitution exon 1 VAR_000933 P00439:p.Glu221Gly SP substitution exon 1 VAR_000934 P00439:p.Asp222Val SP substitution exon 1 VAR_000935 P00439:p.Ile224Met SP substitution exon 1 VAR_000936 P00439:p.Pro225Arg SP substitution exon 1 VAR_000937 P00439:p.Pro225Thr SP substitution exon 1 VAR_000938 P00439:p.Val230Ile SP substitution exon 1 VAR_000939 P00439:p.Ser231Pro SP substitution exon 1 VAR_000940 P00439:p.Phe233Leu SP substitution exon 1 VAR_000941 P00439:p.Thr238Pro SP substitution exon 1 VAR_000942 P00439:p.Gly239Ser SP substitution exon 1 VAR_000943 P00439:p.Arg241Cys SP substitution exon 1 VAR_000944 P00439:p.Arg241His SP substitution exon 1 VAR_000945 P00439:p.Arg241Leu SP substitution exon 1 VAR_000946 P00439:p.Leu242Phe SP substitution exon 1 VAR_000947 P00439:p.Arg243Gln SP substitution exon 1 VAR_000948 P00439:p.Pro244Leu SP substitution exon 1 VAR_000949 P00439:p.Val245Ala SP substitution exon 1 VAR_000950 P00439:p.Val245Glu SP substitution exon 1 VAR_000951 P00439:p.Val245Leu SP substitution exon 1 VAR_000952 P00439:p.Ala246Asp SP substitution exon 1 VAR_000953 P00439:p.Gly247Val SP substitution exon 1 VAR_000954 P00439:p.Leu248Pro SP substitution exon 1 VAR_000955 P00439:p.Leu249Phe SP substitution exon 1 VAR_000956 P00439:p.Arg252Gly SP substitution exon 1 VAR_000957 P00439:p.Arg252Gln SP substitution exon 1 VAR_000958 P00439:p.Arg252Trp SP substitution exon 1 VAR_000959 P00439:p.Leu255Val SP substitution exon 1 VAR_000960 P00439:p.Leu255Ser SP substitution exon 1 VAR_000961 P00439:p.Gly257Cys SP substitution exon 1 VAR_000962 P00439:p.Ala259Thr SP substitution exon 1 VAR_000963 P00439:p.Ala259Val SP substitution exon 1 VAR_000964 P00439:p.Arg261Pro SP substitution exon 1 VAR_000965 P00439:p.Arg261Gln SP substitution exon 1 VAR_000966 P00439:p.Phe263Leu SP substitution exon 1 VAR_000967 P00439:p.His264Leu SP substitution exon 1 VAR_000968 P00439:p.Cys265Gly SP substitution exon 1 VAR_000969 P00439:p.Ile269Leu SP substitution exon 1 VAR_000970 P00439:p.Arg270Lys SP substitution exon 1 VAR_000971 P00439:p.Arg270Ser SP substitution exon 1 VAR_000972 P00439:p.His271Tyr SP substitution exon 1 VAR_000973 P00439:p.Ser273Phe SP substitution exon 1 VAR_000974 P00439:p.Met276Ile SP substitution exon 1 VAR_000975 P00439:p.Met276Val SP substitution exon 1 VAR_000976 P00439:p.Tyr277Cys SP substitution exon 1 VAR_000977 P00439:p.Tyr277Asp SP substitution exon 1 VAR_000978 P00439:p.Thr278Ala SP substitution exon 1 VAR_000979 P00439:p.Thr278Asn SP substitution exon 1 VAR_000980 P00439:p.Glu280Lys SP substitution exon 1 VAR_000981 P00439:p.Pro281Leu SP substitution exon 1 VAR_000982 P00439:p.Asp282Asn SP substitution exon 1 VAR_000983 P00439:p.Ile283Phe SP substitution exon 1 VAR_000984 P00439:p.Ile283Asn SP substitution exon 1 VAR_000985 P00439:p.Arg297Cys SP substitution exon 1 VAR_000986 P00439:p.Arg297His SP substitution exon 1 VAR_000987 P00439:p.Phe299Cys SP substitution exon 1 VAR_000988 P00439:p.Ala300Ser SP substitution exon 1 VAR_000989 P00439:p.Ala300Val SP substitution exon 1 VAR_000990 P00439:p.Ser303Pro SP substitution exon 1 VAR_000991 P00439:p.Gln304Arg SP substitution exon 1 VAR_000992 P00439:p.Ile306Val SP substitution exon 1 VAR_000993 P00439:p.Ala309Asp SP substitution exon 1 VAR_000994 P00439:p.Ala309Val SP substitution exon 1 VAR_000995 P00439:p.Ser310Phe SP substitution exon 1 VAR_000996 P00439:p.Leu311Pro SP substitution exon 1 VAR_000997 P00439:p.Pro314His SP substitution exon 1 VAR_000998 P00439:p.Ala322Gly SP substitution exon 1 VAR_000999 P00439:p.Ala322Thr SP substitution exon 1 VAR_001000 P00439:p.Phe331Leu SP substitution exon 1 VAR_001001 P00439:p.Leu333Phe SP substitution exon 1 VAR_001002 P00439:p.Cys334Ser SP substitution exon 1 VAR_001003 P00439:p.Gly337Val SP substitution exon 1 VAR_001004 P00439:p.Asp338Tyr SP substitution exon 1 VAR_001005 P00439:p.Lys341Arg SP substitution exon 1 VAR_001006 P00439:p.Lys341Thr SP substitution exon 1 VAR_001007 P00439:p.Ala342Thr SP substitution exon 1 VAR_001008 P00439:p.Tyr343Cys SP substitution exon 1 VAR_001009 P00439:p.Ala345Ser SP substitution exon 1 VAR_001010 P00439:p.Ala345Thr SP substitution exon 1 VAR_001011 P00439:p.Leu347Phe SP substitution exon 1 VAR_001012 P00439:p.Leu348Val SP substitution exon 1 VAR_001013 P00439:p.Ser349Leu SP substitution exon 1 VAR_001014 P00439:p.Ser349Pro SP substitution exon 1 VAR_001015 P00439:p.Ser350Thr SP substitution exon 1 VAR_001016 P00439:p.Pro362Thr SP substitution exon 1 VAR_001019 P00439:p.Pro366His SP substitution exon 1 VAR_001020 P00439:p.Thr372Ser SP substitution exon 1 VAR_001021 P00439:p.Tyr377Cys SP substitution exon 1 VAR_001022 P00439:p.Thr380Met SP substitution exon 1 VAR_001023 P00439:p.Tyr386Cys SP substitution exon 1 VAR_001024 P00439:p.Tyr387His SP substitution exon 1 VAR_001025 P00439:p.Val388Leu SP substitution exon 1 VAR_001026 P00439:p.Val388Met SP substitution exon 1 VAR_001027 P00439:p.Glu390Gly SP substitution exon 1 VAR_001028 P00439:p.Asp394Ala SP substitution exon 1 VAR_001029 P00439:p.Asp394His SP substitution exon 1 VAR_001030 P00439:p.Ala395Gly SP substitution exon 1 VAR_001031 P00439:p.Ala395Pro SP substitution exon 1 VAR_001033 P00439:p.Ala403Val SP substitution exon 1 VAR_001034 P00439:p.Arg408Gln SP substitution exon 1 VAR_001035 P00439:p.Arg408Trp SP substitution exon 1 VAR_001036 P00439:p.Arg413Pro SP substitution exon 1 VAR_001037 P00439:p.Arg413Ser SP substitution exon 1 VAR_001038 P00439:p.Tyr414Cys SP substitution exon 1 VAR_001039 P00439:p.Asp415Asn SP substitution exon 1 VAR_001040 P00439:p.Thr418Pro SP substitution exon 1 VAR_001041 P00439:p.Leu430Pro SP substitution exon 1 VAR_001042 P00439:p.Ala447Asp SP substitution exon 1 VAR_001045 P00451:p.Leu26Arg SP substitution exon 1 VAR_001046 P00451:p.Glu30Val SP substitution exon 1 VAR_001047 P00451:p.Gly41Cys SP substitution exon 1 VAR_001048 P00451:p.Arg48Cys SP substitution exon 1 VAR_001049 P00451:p.Asp75Val SP substitution exon 1 VAR_001050 P00451:p.Gly89Asp SP substitution exon 1 VAR_001051 P00451:p.Gly89Val SP substitution exon 1 VAR_001052 P00451:p.Val99Asp SP substitution exon 1 VAR_001053 P00451:p.Val104Asp SP substitution exon 1 VAR_001054 P00451:p.Lys108Thr SP substitution exon 1 VAR_001055 P00451:p.Met110Val SP substitution exon 1 VAR_001056 P00451:p.Leu117Arg SP substitution exon 1 VAR_001057 P00451:p.Glu129Val SP substitution exon 1 VAR_001058 P00451:p.Gly130Arg SP substitution exon 1 VAR_001059 P00451:p.Glu132Asp SP substitution exon 1 VAR_001060 P00451:p.Tyr133Cys SP substitution exon 1 VAR_001061 P00451:p.Asp135Gly SP substitution exon 1 VAR_001062 P00451:p.Thr137Ile SP substitution exon 1 VAR_001063 P00451:p.Gly164Val SP substitution exon 1 VAR_001064 P00451:p.Pro165Ser SP substitution exon 1 VAR_001065 P00451:p.Val181Met SP substitution exon 1 VAR_001066 P00451:p.Lys185Thr SP substitution exon 1 VAR_001067 P00451:p.Ser189Leu SP substitution exon 1 VAR_001068 P00451:p.Asp222Val SP substitution exon 1 VAR_001069 P00451:p.Gly224Trp SP substitution exon 1 VAR_001070 P00451:p.Val253Phe SP substitution exon 1 VAR_001071 P00451:p.Gly266Glu SP substitution exon 1 VAR_001072 P00451:p.Gly278Arg SP substitution exon 1 VAR_001073 P00451:p.Val285Gly SP substitution exon 1 VAR_001074 P00451:p.Glu291Gly SP substitution exon 1 VAR_001075 P00451:p.Thr294Ile SP substitution exon 1 VAR_001076 P00451:p.Asn299Ile SP substitution exon 1 VAR_001077 P00451:p.Arg301His SP substitution exon 1 VAR_001078 P00451:p.Arg301Leu SP substitution exon 1 VAR_001079 P00451:p.Ser308Leu SP substitution exon 1 VAR_001080 P00451:p.Phe312Ser SP substitution exon 1 VAR_001081 P00451:p.Thr314Ala SP substitution exon 1 VAR_001082 P00451:p.Thr314Ile SP substitution exon 1 VAR_001083 P00451:p.Leu327Pro SP substitution exon 1 VAR_001084 P00451:p.Ile331Val SP substitution exon 1 VAR_001085 P00451:p.Val345Leu SP substitution exon 1 VAR_001086 P00451:p.Cys348Arg SP substitution exon 1 VAR_001087 P00451:p.Cys348Ser SP substitution exon 1 VAR_001088 P00451:p.Cys348Tyr SP substitution exon 1 VAR_001089 P00451:p.Arg391Cys SP substitution exon 1 VAR_001090 P00451:p.Arg391His SP substitution exon 1 VAR_001091 P00451:p.Arg391Pro SP substitution exon 1 VAR_001092 P00451:p.Ser392Leu SP substitution exon 1 VAR_001093 P00451:p.Ser392Pro SP substitution exon 1 VAR_001094 P00451:p.Ile405Ser SP substitution exon 1 VAR_001095 P00451:p.Glu409Gly SP substitution exon 1 VAR_001096 P00451:p.Leu431Phe SP substitution exon 1 VAR_001097 P00451:p.Gly439Val SP substitution exon 1 VAR_001098 P00451:p.Lys444Arg SP substitution exon 1 VAR_001099 P00451:p.Tyr450Asn SP substitution exon 1 VAR_001100 P00451:p.Gly474Arg SP substitution exon 1 VAR_001101 P00451:p.Ala488Gly SP substitution exon 1 VAR_001102 P00451:p.Tyr492His SP substitution exon 1 VAR_001103 P00451:p.Tyr492Cys SP substitution exon 1 VAR_001104 P00451:p.Ile494Thr SP substitution exon 1 VAR_001105 P00451:p.Gly498Arg SP substitution exon 1 VAR_001106 P00451:p.Asp544Asn SP substitution exon 1 VAR_001107 P00451:p.Arg546Trp SP substitution exon 1 VAR_001108 P00451:p.Arg550Cys SP substitution exon 1 VAR_001109 P00451:p.Arg550Gly SP substitution exon 1 VAR_001110 P00451:p.Arg550His SP substitution exon 1 VAR_001111 P00451:p.Ser554Gly SP substitution exon 1 VAR_001112 P00451:p.Val556Asp SP substitution exon 1 VAR_001113 P00451:p.Ser577Phe SP substitution exon 1 VAR_001114 P00451:p.Gln584Lys SP substitution exon 1 VAR_001115 P00451:p.Ile585Thr SP substitution exon 1 VAR_001116 P00451:p.Ser596Pro SP substitution exon 1 VAR_001117 P00451:p.Ser603Ile SP substitution exon 1 VAR_001118 P00451:p.Trp604Cys SP substitution exon 1 VAR_001119 P00451:p.Tyr605Ser SP substitution exon 1 VAR_001120 P00451:p.Arg612Cys SP substitution exon 1 VAR_001121 P00451:p.Asn631Lys SP substitution exon 1 VAR_001122 P00451:p.Asn631Ser SP substitution exon 1 VAR_001123 P00451:p.Leu644Val SP substitution exon 1 VAR_001124 P00451:p.Val653Ala SP substitution exon 1 VAR_001125 P00451:p.Val653Met SP substitution exon 1 VAR_001126 P00451:p.Ala663Val SP substitution exon 1 VAR_001128 P00451:p.Phe677Leu SP substitution exon 1 VAR_001129 P00451:p.Met699Val SP substitution exon 1 VAR_001130 P00451:p.Arg717Trp SP substitution exon 1 VAR_001131 P00451:p.Gly720Asp SP substitution exon 1 VAR_001132 P00451:p.Ala723Thr SP substitution exon 1 VAR_001133 P00451:p.Val727Phe SP substitution exon 1 VAR_001134 P00451:p.Glu739Lys SP substitution exon 1 VAR_001135 P00451:p.Glu1057Lys SP substitution exon 1 VAR_001136 P00451:p.Asp1260Glu SP substitution exon 1 VAR_001137 P00451:p.Leu1481Pro SP substitution exon 1 VAR_001138 P00451:p.Tyr1699Cys SP substitution exon 1 VAR_001139 P00451:p.Tyr1699Phe SP substitution exon 1 VAR_001140 P00451:p.Arg1708Cys SP substitution exon 1 VAR_001141 P00451:p.Arg1708His SP substitution exon 1 VAR_001142 P00451:p.Arg1715Gly SP substitution exon 1 VAR_001143 P00451:p.Glu1723Lys SP substitution exon 1 VAR_001144 P00451:p.Tyr1728Cys SP substitution exon 1 VAR_001145 P00451:p.Gly1769Arg SP substitution exon 1 VAR_001146 P00451:p.Leu1775Val SP substitution exon 1 VAR_001147 P00451:p.Leu1775Phe SP substitution exon 1 VAR_001148 P00451:p.Gly1779Glu SP substitution exon 1 VAR_001149 P00451:p.Met1791Thr SP substitution exon 1 VAR_001150 P00451:p.Arg1800His SP substitution exon 1 VAR_001151 P00451:p.Arg1800Cys SP substitution exon 1 VAR_001152 P00451:p.Arg1800Gly SP substitution exon 1 VAR_001153 P00451:p.Ser1803Tyr SP substitution exon 1 VAR_001154 P00451:p.Leu1808Phe SP substitution exon 1 VAR_001155 P00451:p.Met1842Ile SP substitution exon 1 VAR_001156 P00451:p.Pro1844Ser SP substitution exon 1 VAR_001157 P00451:p.Thr1845Pro SP substitution exon 1 VAR_001158 P00451:p.Ala1853Thr SP substitution exon 1 VAR_001159 P00451:p.Ala1853Val SP substitution exon 1 VAR_001160 P00451:p.Asp1865Asn SP substitution exon 1 VAR_001161 P00451:p.Asp1865Tyr SP substitution exon 1 VAR_001162 P00451:p.His1867Arg SP substitution exon 1 VAR_001163 P00451:p.Gly1869Val SP substitution exon 1 VAR_001164 P00451:p.Pro1873Arg SP substitution exon 1 VAR_001165 P00451:p.Arg1888Ile SP substitution exon 1 VAR_001166 P00451:p.Glu1894Gly SP substitution exon 1 VAR_001167 P00451:p.Glu1904Lys SP substitution exon 1 VAR_001168 P00451:p.Asn1941Asp SP substitution exon 1 VAR_001169 P00451:p.Asn1941Ser SP substitution exon 1 VAR_001170 P00451:p.Arg1960Gln SP substitution exon 1 VAR_001171 P00451:p.Arg1960Leu SP substitution exon 1 VAR_001172 P00451:p.Gly1967Asp SP substitution exon 1 VAR_001173 P00451:p.Gly1979Val SP substitution exon 1 VAR_001174 P00451:p.His1980Tyr SP substitution exon 1 VAR_001175 P00451:p.Arg2016Trp SP substitution exon 1 VAR_001176 P00451:p.Asn2038Ser SP substitution exon 1 VAR_001177 P00451:p.Trp2065Arg SP substitution exon 1 VAR_001178 P00451:p.Ser2088Phe SP substitution exon 1 VAR_001179 P00451:p.Asp2093Gly SP substitution exon 1 VAR_001180 P00451:p.Thr2105Asn SP substitution exon 1 VAR_001181 P00451:p.Gly2107Ser SP substitution exon 1 VAR_001182 P00451:p.Phe2120Leu SP substitution exon 1 VAR_001183 P00451:p.Tyr2124Cys SP substitution exon 1 VAR_001184 P00451:p.Arg2135Pro SP substitution exon 1 VAR_001185 P00451:p.Ser2138Tyr SP substitution exon 1 VAR_001186 P00451:p.Asn2148Ser SP substitution exon 1 VAR_001187 P00451:p.Arg2169His SP substitution exon 1 VAR_001188 P00451:p.Pro2172Gln SP substitution exon 1 VAR_001189 P00451:p.Thr2173Ile SP substitution exon 1 VAR_001190 P00451:p.Arg2178Cys SP substitution exon 1 VAR_001191 P00451:p.Arg2178His SP substitution exon 1 VAR_001192 P00451:p.Arg2178Leu SP substitution exon 1 VAR_001193 P00451:p.Arg2182Cys SP substitution exon 1 VAR_001194 P00451:p.Arg2182His SP substitution exon 1 VAR_001195 P00451:p.Met2183Val SP substitution exon 1 VAR_001196 P00451:p.Leu2185Ser SP substitution exon 1 VAR_001197 P00451:p.Ile2204Thr SP substitution exon 1 VAR_001198 P00451:p.Ile2209Asn SP substitution exon 1 VAR_001199 P00451:p.Ala2211Pro SP substitution exon 1 VAR_001201 P00451:p.Arg2228Gly SP substitution exon 1 VAR_001202 P00451:p.Arg2228Leu SP substitution exon 1 VAR_001203 P00451:p.Arg2228Gln SP substitution exon 1 VAR_001204 P00451:p.Val2242Met SP substitution exon 1 VAR_001205 P00451:p.Trp2248Cys SP substitution exon 1 VAR_001206 P00451:p.Gln2265Arg SP substitution exon 1 VAR_001207 P00451:p.Pro2319Leu SP substitution exon 1 VAR_001208 P00451:p.Pro2319Ser SP substitution exon 1 VAR_001209 P00451:p.Arg2323Cys SP substitution exon 1 VAR_001210 P00451:p.Arg2323His SP substitution exon 1 VAR_001211 P00451:p.Arg2326Leu SP substitution exon 1 VAR_001212 P00451:p.Arg2326Gln SP substitution exon 1 VAR_001213 P12259:p.Arg534Gln SP substitution exon 1 VAR_001214 P12259:p.Lys858Arg SP substitution exon 1 VAR_001215 P12259:p.His865Arg SP substitution exon 1 VAR_001216 Q03468:p.Lys255Thr SP substitution exon 1 VAR_001217 Q03468:p.Gly399Asp SP substitution exon 1 VAR_001218 Q03468:p.Arg670Trp SP substitution exon 1 VAR_001219 Q03468:p.Trp851Arg SP substitution exon 1 VAR_001226 P46100:p.Pro190Ala SP substitution exon 1 VAR_001227 P46100:p.Leu192Phe SP substitution exon 1 VAR_001228 P46100:p.Cys200Ser SP substitution exon 1 VAR_001229 P46100:p.Cys220Arg SP substitution exon 1 VAR_001230 P46100:p.Trp222Ser SP substitution exon 1 VAR_001231 P46100:p.Cys243Phe SP substitution exon 1 VAR_001232 P46100:p.Arg246Cys SP substitution exon 1 VAR_001233 P46100:p.Gly249Asp SP substitution exon 1 VAR_001234 P46100:p.His1609Arg SP substitution exon 1 VAR_001235 P46100:p.Cys1614Arg SP substitution exon 1 VAR_001236 P46100:p.Lys1650Asn SP substitution exon 1 VAR_001237 P46100:p.Asn1860Ser SP substitution exon 1 VAR_001238 P46100:p.Asp2035Val SP substitution exon 1 VAR_001239 P46100:p.Tyr2084His SP substitution exon 1 VAR_001240 P46100:p.Arg2131Gln SP substitution exon 1 VAR_001241 P46100:p.Tyr2163Cys SP substitution exon 1 VAR_001242 P28370:p.Gln656Arg SP substitution exon 1 VAR_001243 P04798:p.Ile462Val SP substitution exon 1 VAR_001244 Q16678:p.Gly61Glu SP substitution exon 1 VAR_001245 Q16678:p.Gly365Trp SP substitution exon 1 VAR_001246 Q16678:p.Asp374Asn SP substitution exon 1 VAR_001247 Q16678:p.Arg469Trp SP substitution exon 1 VAR_001248 Q16678:p.Leu432Val SP substitution exon 1 VAR_001249 P11509:p.Leu160His SP substitution exon 1 VAR_001250 P10632:p.Glu154Asp SP substitution exon 1 VAR_001251 P10632:p.Asn193Lys SP substitution exon 1 VAR_001252 P10632:p.Lys249Arg SP substitution exon 1 VAR_001254 P33260:p.Thr385Met SP substitution exon 1 VAR_001255 P33261:p.Val331Ile SP substitution exon 1 VAR_001258 Q08477:p.Ala269Asp SP substitution exon 1 VAR_001259 P22680:p.Phe100Ser SP substitution exon 1 VAR_001260 P15538:p.Pro42Ser SP substitution exon 1 VAR_001261 P15538:p.Asn133His SP substitution exon 1 VAR_001262 P15538:p.Thr318Met SP substitution exon 1 VAR_001263 P15538:p.Thr319Met SP substitution exon 1 VAR_001264 P15538:p.Arg374Gln SP substitution exon 1 VAR_001265 P15538:p.Arg448His SP substitution exon 1 VAR_001266 P19099:p.Lys173Arg SP substitution exon 1 VAR_001267 P19099:p.Arg181Trp SP substitution exon 1 VAR_001268 P19099:p.Glu198Asp SP substitution exon 1 VAR_001269 P19099:p.Val386Ala SP substitution exon 1 VAR_001271 P05093:p.Tyr64Ser SP substitution exon 1 VAR_001272 P05093:p.Ser106Pro SP substitution exon 1 VAR_001274 P05093:p.Pro342Thr SP substitution exon 1 VAR_001275 P05093:p.Arg347His SP substitution exon 1 VAR_001276 P05093:p.Arg358Gln SP substitution exon 1 VAR_001277 P05093:p.His373Leu SP substitution exon 1 VAR_001278 P05093:p.Arg440His SP substitution exon 1 VAR_001280 P05093:p.Arg496Cys SP substitution exon 1 VAR_001303 Q02318:p.Arg395Cys SP substitution exon 1 VAR_001304 Q02318:p.Arg479Cys SP substitution exon 1 VAR_001305 P33763:p.Asp54Gly SP substitution exon 1 VAR_001306 P12830:p.His123Tyr SP substitution exon 1 VAR_001307 P12830:p.Thr193Pro SP substitution exon 1 VAR_001309 P12830:p.Asn315Ser SP substitution exon 1 VAR_001310 P12830:p.Glu336Asp SP substitution exon 1 VAR_001311 P12830:p.Asp370Ala SP substitution exon 1 VAR_001314 P12830:p.Glu463Gln SP substitution exon 1 VAR_001315 P12830:p.Thr470Ile SP substitution exon 1 VAR_001317 P12830:p.Val473Asp SP substitution exon 1 VAR_001318 P12830:p.Ala592Thr SP substitution exon 1 VAR_001319 P12830:p.Arg598Gln SP substitution exon 1 VAR_001320 P12830:p.Ala617Thr SP substitution exon 1 VAR_001321 P12830:p.Leu711Val SP substitution exon 1 VAR_001322 P12830:p.Ser838Gly SP substitution exon 1 VAR_001323 P28907:p.Arg140Trp SP substitution exon 1 VAR_001324 P02549:p.Ile24Ser SP substitution exon 1 VAR_001325 P02549:p.Arg28His SP substitution exon 1 VAR_001326 P02549:p.Arg28Leu SP substitution exon 1 VAR_001327 P02549:p.Arg28Ser SP substitution exon 1 VAR_001328 P02549:p.Arg28Cys SP substitution exon 1 VAR_001329 P02549:p.Val31Ala SP substitution exon 1 VAR_001330 P02549:p.Arg34Trp SP substitution exon 1 VAR_001331 P02549:p.Arg41Trp SP substitution exon 1 VAR_001332 P02549:p.Arg45Ser SP substitution exon 1 VAR_001333 P02549:p.Arg45Thr SP substitution exon 1 VAR_001334 P02549:p.Gly46Val SP substitution exon 1 VAR_001335 P02549:p.Lys48Arg SP substitution exon 1 VAR_001336 P02549:p.Leu49Phe SP substitution exon 1 VAR_001337 P02549:p.Gly151Asp SP substitution exon 1 VAR_001339 P02549:p.Leu207Pro SP substitution exon 1 VAR_001340 P02549:p.Leu260Pro SP substitution exon 1 VAR_001341 P02549:p.Ser261Pro SP substitution exon 1 VAR_001342 P02549:p.His469Pro SP substitution exon 1 VAR_001344 P02549:p.Gln471Pro SP substitution exon 1 VAR_001345 P02549:p.Arg701His SP substitution exon 1 VAR_001346 P02549:p.Asp791Glu SP substitution exon 1 VAR_001347 P02549:p.Ile809Val SP substitution exon 1 VAR_001348 P02549:p.Thr853Arg SP substitution exon 1 VAR_001349 P02549:p.Ala970Asp SP substitution exon 1 VAR_001350 P02549:p.Leu1858Val SP substitution exon 1 VAR_001351 P02549:p.Ala2025Gly SP substitution exon 1 VAR_001352 P11277:p.Trp202Arg SP substitution exon 1 VAR_001353 P11277:p.Ser439Asn SP substitution exon 1 VAR_001354 P11277:p.Asn1151Asp SP substitution exon 1 VAR_001355 P11277:p.His1374Arg SP substitution exon 1 VAR_001356 P11277:p.Arg1403Gln SP substitution exon 1 VAR_001357 P11277:p.Ala2018Gly SP substitution exon 1 VAR_001358 P11277:p.Ser2019Pro SP substitution exon 1 VAR_001359 P11277:p.Ala2023Val SP substitution exon 1 VAR_001360 P11277:p.Trp2024Arg SP substitution exon 1 VAR_001361 P11277:p.Leu2025Arg SP substitution exon 1 VAR_001362 P11277:p.Ala2053Pro SP substitution exon 1 VAR_001363 P20807:p.Leu182Gln SP substitution exon 1 VAR_001365 P20807:p.Gly234Glu SP substitution exon 1 VAR_001366 P20807:p.Val354Gly SP substitution exon 1 VAR_001367 P20807:p.Arg490Trp SP substitution exon 1 VAR_001368 P20807:p.Arg572Gln SP substitution exon 1 VAR_001369 P20807:p.Ser744Gly SP substitution exon 1 VAR_001370 P20807:p.Arg769Gln SP substitution exon 1 VAR_001371 P13796:p.Asp24Glu SP substitution exon 1 VAR_001372 P43080:p.Tyr99Cys SP substitution exon 1 VAR_001373 Q14203:p.Ala163Pro SP substitution exon 1 VAR_001374 P32189:p.Ser185Asn SP substitution exon 1 VAR_001375 P32189:p.Asn232His SP substitution exon 1 VAR_001378 P00915:p.His68Arg SP substitution exon 1 VAR_001379 P00915:p.Gly254Arg SP substitution exon 1 VAR_001380 P00918:p.Lys18Glu SP substitution exon 1 VAR_001381 P00918:p.Gln92Pro SP substitution exon 1 VAR_001382 P00918:p.His107Tyr SP substitution exon 1 VAR_001383 P00918:p.Pro236His SP substitution exon 1 VAR_001384 P00918:p.Asn252Asp SP substitution exon 1 VAR_001385 P10619:p.Gln49Arg SP substitution exon 1 VAR_001386 P10619:p.Trp65Arg SP substitution exon 1 VAR_001387 P10619:p.Ser90Leu SP substitution exon 1 VAR_001388 P10619:p.Tyr249Asn SP substitution exon 1 VAR_001389 P10619:p.Tyr395Cys SP substitution exon 1 VAR_001390 P10619:p.Phe440Val SP substitution exon 1 VAR_001391 P23786:p.Pro50His SP substitution exon 1 VAR_001392 P23786:p.Ser113Leu SP substitution exon 1 VAR_001393 P23786:p.Glu174Lys SP substitution exon 1 VAR_001394 P23786:p.Phe352Cys SP substitution exon 1 VAR_001395 P23786:p.Val368Ile SP substitution exon 1 VAR_001396 P23786:p.Phe383Tyr SP substitution exon 1 VAR_001397 P23786:p.Asp553Asn SP substitution exon 1 VAR_001398 P23786:p.Tyr628Ser SP substitution exon 1 VAR_001399 P23786:p.Arg631Cys SP substitution exon 1 VAR_001400 P23786:p.Met647Val SP substitution exon 1 VAR_001401 P42574:p.Glu190Asp SP substitution exon 1 VAR_001403 P56539:p.Pro105Leu SP substitution exon 1 VAR_001408 P42771:p.Asp14Glu SP substitution exon 1 VAR_001409 P42771:p.Leu16Pro SP substitution exon 1 VAR_001410 P42771:p.Ala20Pro SP substitution exon 1 VAR_001411 P42771:p.Ala20Ser SP substitution exon 1 VAR_001412 P42771:p.Gly23Asp SP substitution exon 1 VAR_001413 P42771:p.Arg24Cys SP substitution exon 1 VAR_001414 P42771:p.Arg24Pro SP substitution exon 1 VAR_001415 P42771:p.Glu26Asp SP substitution exon 1 VAR_001416 P42771:p.Leu32Pro SP substitution exon 1 VAR_001417 P42771:p.Glu33Asp SP substitution exon 1 VAR_001418 P42771:p.Gly35Ala SP substitution exon 1 VAR_001419 P42771:p.Gly35Glu SP substitution exon 1 VAR_001420 P42771:p.Pro48Leu SP substitution exon 1 VAR_001421 P42771:p.Ile49Ser SP substitution exon 1 VAR_001422 P42771:p.Ile49Thr SP substitution exon 1 VAR_001423 P42771:p.Gln50Arg SP substitution exon 1 VAR_001424 P42771:p.Met53Ile SP substitution exon 1 VAR_001425 P42771:p.Ser56Ile SP substitution exon 1 VAR_001426 P42771:p.Ala57Val SP substitution exon 1 VAR_001427 P42771:p.Val59Gly SP substitution exon 1 VAR_001428 P42771:p.Ala60Thr SP substitution exon 1 VAR_001430 P42771:p.Leu62Pro SP substitution exon 1 VAR_001431 P42771:p.His66Tyr SP substitution exon 1 VAR_001432 P42771:p.Ala68Leu SP substitution exon 1 VAR_001433 P42771:p.Ala68Thr SP substitution exon 1 VAR_001434 P42771:p.Ala68Val SP substitution exon 1 VAR_001435 P42771:p.Glu69Lys SP substitution exon 1 VAR_001436 P42771:p.Glu69Val SP substitution exon 1 VAR_001437 P42771:p.Asn71Lys SP substitution exon 1 VAR_001438 P42771:p.Asn71Ser SP substitution exon 1 VAR_001439 P42771:p.Cys72Gly SP substitution exon 1 VAR_001440 P42771:p.Asp74Asn SP substitution exon 1 VAR_001441 P42771:p.Asp74Val SP substitution exon 1 VAR_001442 P42771:p.Arg80Leu SP substitution exon 1 VAR_001443 P42771:p.Pro81Leu SP substitution exon 1 VAR_001444 P42771:p.His83Tyr SP substitution exon 1 VAR_001445 P42771:p.His83Asn SP substitution exon 1 VAR_001446 P42771:p.Asp84Glu SP substitution exon 1 VAR_001447 P42771:p.Asp84His SP substitution exon 1 VAR_001448 P42771:p.Asp84Asn SP substitution exon 1 VAR_001449 P42771:p.Asp84Tyr SP substitution exon 1 VAR_001450 P42771:p.Ala85Thr SP substitution exon 1 VAR_001451 P42771:p.Arg87Pro SP substitution exon 1 VAR_001452 P42771:p.Glu88Asp SP substitution exon 1 VAR_001453 P42771:p.Gly89Asp SP substitution exon 1 VAR_001454 P42771:p.Gly89Ser SP substitution exon 1 VAR_001455 P42771:p.Thr93Ala SP substitution exon 1 VAR_001456 P42771:p.Val95Ala SP substitution exon 1 VAR_001457 P42771:p.Leu97Arg SP substitution exon 1 VAR_001458 P42771:p.His98Pro SP substitution exon 1 VAR_001459 P42771:p.His98Gln SP substitution exon 1 VAR_001460 P42771:p.Arg99Pro SP substitution exon 1 VAR_001461 P42771:p.Arg99Gln SP substitution exon 1 VAR_001462 P42771:p.Ala100Leu SP substitution exon 1 VAR_001463 P42771:p.Ala100Pro SP substitution exon 1 VAR_001464 P42771:p.Gly101Trp SP substitution exon 1 VAR_001466 P42771:p.Arg107Cys SP substitution exon 1 VAR_001467 P42771:p.Arg107His SP substitution exon 1 VAR_001468 P42771:p.Asp108Tyr SP substitution exon 1 VAR_001469 P42771:p.Asp108His SP substitution exon 1 VAR_001470 P42771:p.Pro114Leu SP substitution exon 1 VAR_001471 P42771:p.Leu117Met SP substitution exon 1 VAR_001472 P42771:p.Ala118Thr SP substitution exon 1 VAR_001473 P42771:p.Glu119Gln SP substitution exon 1 VAR_001474 P42771:p.Glu120Ala SP substitution exon 1 VAR_001475 P42771:p.Glu120Lys SP substitution exon 1 VAR_001476 P42771:p.Gly122Ser SP substitution exon 1 VAR_001477 P42771:p.His123Gln SP substitution exon 1 VAR_001478 P42771:p.Arg124His SP substitution exon 1 VAR_001479 P42771:p.Val126Asp SP substitution exon 1 VAR_001480 P42771:p.Ala127Ser SP substitution exon 1 VAR_001481 P42771:p.Ala132Pro SP substitution exon 1 VAR_001482 P42771:p.Ala134Val SP substitution exon 1 VAR_001483 P42771:p.His142Tyr SP substitution exon 1 VAR_001484 P42771:p.Arg144Cys SP substitution exon 1 VAR_001486 P42771:p.Ala148Thr SP substitution exon 1 VAR_001487 P42771:p.Gly150Val SP substitution exon 1 VAR_001488 P42772:p.Gly47Glu SP substitution exon 1 VAR_001489 P42772:p.Ala50Val SP substitution exon 1 VAR_001490 P42773:p.Ala72Pro SP substitution exon 1 VAR_001491 O00555:p.Arg192Gln SP substitution exon 1 VAR_001492 O00555:p.Thr666Met SP substitution exon 1 VAR_001493 O00555:p.Val714Ala SP substitution exon 1 VAR_001494 O00555:p.Ile1810Leu SP substitution exon 1 VAR_001495 Q13936:p.Ala752Thr SP substitution exon 1 VAR_001496 Q13936:p.Ala2169Thr SP substitution exon 1 VAR_001498 Q13698:p.Leu458His SP substitution exon 1 VAR_001499 Q13698:p.Arg528His SP substitution exon 1 VAR_001500 Q13698:p.Arg1086His SP substitution exon 1 VAR_001501 Q13698:p.Arg1239Gly SP substitution exon 1 VAR_001502 Q13698:p.Arg1239His SP substitution exon 1 VAR_001503 Q13698:p.Arg1539Cys SP substitution exon 1 VAR_001504 O60840:p.Gly369Asp SP substitution exon 1 VAR_001505 O60840:p.Arg519Gln SP substitution exon 1 VAR_001506 O60840:p.Arg1060Trp SP substitution exon 1 VAR_001507 O60840:p.Leu1375His SP substitution exon 1 VAR_001508 Q09470:p.Val174Phe SP substitution exon 1 VAR_001509 Q09470:p.Ile177Arg SP substitution exon 1 VAR_001510 Q09470:p.Thr226Ala SP substitution exon 1 VAR_001511 Q09470:p.Arg239Ser SP substitution exon 1 VAR_001512 Q09470:p.Phe249Ile SP substitution exon 1 VAR_001513 Q09470:p.Val404Ile SP substitution exon 1 VAR_001514 Q09470:p.Val408Ala SP substitution exon 1 VAR_001516 P51787:p.Gly168Arg SP substitution exon 1 VAR_001517 P51787:p.Arg174Cys SP substitution exon 1 VAR_001518 P51787:p.Ala178Pro SP substitution exon 1 VAR_001519 P51787:p.Gly189Arg SP substitution exon 1 VAR_001520 P51787:p.Arg190Gln SP substitution exon 1 VAR_001521 P51787:p.Gly216Arg SP substitution exon 1 VAR_001522 P51787:p.Val254Met SP substitution exon 1 VAR_001523 P51787:p.Glu261Lys SP substitution exon 1 VAR_001524 P51787:p.Gly269Asp SP substitution exon 1 VAR_001525 P51787:p.Leu273Phe SP substitution exon 1 VAR_001526 P51787:p.Ala300Thr SP substitution exon 1 VAR_001527 P51787:p.Trp305Ser SP substitution exon 1 VAR_001528 P51787:p.Gly306Arg SP substitution exon 1 VAR_001529 P51787:p.Thr309Arg SP substitution exon 1 VAR_001530 P51787:p.Thr312Ile SP substitution exon 1 VAR_001531 P51787:p.Ile313Met SP substitution exon 1 VAR_001532 P51787:p.Gly314Ser SP substitution exon 1 VAR_001533 P51787:p.Tyr315Ser SP substitution exon 1 VAR_001534 P51787:p.Asp317Asn SP substitution exon 1 VAR_001535 P51787:p.Pro320Ala SP substitution exon 1 VAR_001536 P51787:p.Gly325Arg SP substitution exon 1 VAR_001538 P51787:p.Ala341Glu SP substitution exon 1 VAR_001539 P51787:p.Ala341Val SP substitution exon 1 VAR_001540 P51787:p.Leu342Phe SP substitution exon 1 VAR_001541 P51787:p.Ala344Val SP substitution exon 1 VAR_001542 P51787:p.Gly345Glu SP substitution exon 1 VAR_001543 P51787:p.Arg366Pro SP substitution exon 1 VAR_001544 P51787:p.Ala371Thr SP substitution exon 1 VAR_001546 O43525:p.Gly310Val SP substitution exon 1 VAR_001547 P56696:p.Gly285Ser SP substitution exon 1 VAR_001548 P48048:p.Val72Glu SP substitution exon 1 VAR_001549 P48048:p.Asp74Tyr SP substitution exon 1 VAR_001550 P48048:p.Trp99Cys SP substitution exon 1 VAR_001551 P48048:p.Asp108His SP substitution exon 1 VAR_001552 P48048:p.Pro110Leu SP substitution exon 1 VAR_001553 P48048:p.Val122Glu SP substitution exon 1 VAR_001554 P48048:p.Gly167Glu SP substitution exon 1 VAR_001555 P48048:p.Ala198Thr SP substitution exon 1 VAR_001556 P48048:p.Val315Gly SP substitution exon 1 VAR_001558 P15382:p.Ser38Gly SP substitution exon 1 VAR_001560 P35499:p.Met135Val SP substitution exon 1 VAR_001561 P35499:p.Ser524Gly SP substitution exon 1 VAR_001562 P35499:p.Thr704Met SP substitution exon 1 VAR_001563 P35499:p.Ser804Phe SP substitution exon 1 VAR_001564 P35499:p.Ala861Asp SP substitution exon 1 VAR_001565 P35499:p.Ala1156Thr SP substitution exon 1 VAR_001566 P35499:p.Val1293Ile SP substitution exon 1 VAR_001567 P35499:p.Gly1306Ala SP substitution exon 1 VAR_001568 P35499:p.Gly1306Glu SP substitution exon 1 VAR_001569 P35499:p.Gly1306Val SP substitution exon 1 VAR_001570 P35499:p.Thr1313Met SP substitution exon 1 VAR_001571 P35499:p.Leu1433Arg SP substitution exon 1 VAR_001572 P35499:p.Arg1448Cys SP substitution exon 1 VAR_001573 P35499:p.Arg1448His SP substitution exon 1 VAR_001574 P35499:p.Val1589Met SP substitution exon 1 VAR_001575 P35499:p.Met1592Val SP substitution exon 1 VAR_001577 Q14524:p.Asn1325Ser SP substitution exon 1 VAR_001578 Q14524:p.Arg1623Gln SP substitution exon 1 VAR_001579 Q14524:p.Arg1644His SP substitution exon 1 VAR_001580 Q14524:p.Asp1790Gly SP substitution exon 1 VAR_001581 Q14524:p.Asp1839Gly SP substitution exon 1 VAR_001582 P35523:p.Arg105Cys SP substitution exon 1 VAR_001583 P35523:p.Gly118Trp SP substitution exon 1 VAR_001584 P35523:p.Asp136Gly SP substitution exon 1 VAR_001585 P35523:p.Tyr150Cys SP substitution exon 1 VAR_001586 P35523:p.Phe161Val SP substitution exon 1 VAR_001587 P35523:p.Val165Gly SP substitution exon 1 VAR_001588 P35523:p.Phe167Leu SP substitution exon 1 VAR_001589 P35523:p.Gly200Arg SP substitution exon 1 VAR_001590 P35523:p.Gly230Glu SP substitution exon 1 VAR_001591 P35523:p.Val236Leu SP substitution exon 1 VAR_001592 P35523:p.Tyr261Cys SP substitution exon 1 VAR_001593 P35523:p.Gly285Glu SP substitution exon 1 VAR_001594 P35523:p.Val286Ala SP substitution exon 1 VAR_001595 P35523:p.Ile290Met SP substitution exon 1 VAR_001596 P35523:p.Glu291Lys SP substitution exon 1 VAR_001597 P35523:p.Arg300Gln SP substitution exon 1 VAR_001598 P35523:p.Phe307Ser SP substitution exon 1 VAR_001599 P35523:p.Ala313Thr SP substitution exon 1 VAR_001600 P35523:p.Arg317Gln SP substitution exon 1 VAR_001601 P35523:p.Val327Ile SP substitution exon 1 VAR_001602 P35523:p.Ile329Thr SP substitution exon 1 VAR_001603 P35523:p.Arg338Gln SP substitution exon 1 VAR_001604 P35523:p.Phe413Cys SP substitution exon 1 VAR_001605 P35523:p.Ala415Val SP substitution exon 1 VAR_001606 P35523:p.Ala437Thr SP substitution exon 1 VAR_001607 P35523:p.Pro480Leu SP substitution exon 1 VAR_001608 P35523:p.Gly482Arg SP substitution exon 1 VAR_001609 P35523:p.Met485Val SP substitution exon 1 VAR_001610 P35523:p.Arg496Ser SP substitution exon 1 VAR_001611 P35523:p.Gln552Arg SP substitution exon 1 VAR_001612 P35523:p.Ile556Asn SP substitution exon 1 VAR_001613 P35523:p.Val563Ile SP substitution exon 1 VAR_001616 P51795:p.Gly57Val SP substitution exon 1 VAR_001617 P51795:p.Leu200Arg SP substitution exon 1 VAR_001618 P51795:p.Ser244Leu SP substitution exon 1 VAR_001619 P51795:p.Arg280Pro SP substitution exon 1 VAR_001620 P51795:p.Gly506Glu SP substitution exon 1 VAR_001621 P51795:p.Gly512Arg SP substitution exon 1 VAR_001622 P51795:p.Ser520Pro SP substitution exon 1 VAR_001623 P51795:p.Glu527Asp SP substitution exon 1 VAR_001624 P51801:p.Pro124Leu SP substitution exon 1 VAR_001625 P51801:p.Ala204Thr SP substitution exon 1 VAR_001626 P51801:p.Ala349Asp SP substitution exon 1 VAR_001627 P51801:p.Tyr432His SP substitution exon 1 VAR_001628 P51801:p.Arg438Cys SP substitution exon 1 VAR_001633 P80075:p.Lys69Gln SP substitution exon 1 VAR_001634 P51671:p.Leu7Pro SP substitution exon 1 VAR_001635 P51671:p.Ala23Thr SP substitution exon 1 VAR_001636 P51671:p.Arg51Ser SP substitution exon 1 VAR_001637 P51671:p.Lys79Arg SP substitution exon 1 VAR_001638 P20062:p.Met198Thr SP substitution exon 1 VAR_001639 P20062:p.Ile219Leu SP substitution exon 1 VAR_001640 P20062:p.Arg259Pro SP substitution exon 1 VAR_001641 P20062:p.Leu376Ser SP substitution exon 1 VAR_001642 P02452:p.Gly197Cys SP substitution exon 1 VAR_001643 P02452:p.Pro205Ala SP substitution exon 1 VAR_001644 P02452:p.Gly221Cys SP substitution exon 1 VAR_001645 P02452:p.Gly224Cys SP substitution exon 1 VAR_001646 P02452:p.Gly263Arg SP substitution exon 1 VAR_001647 P02452:p.Gly263Val SP substitution exon 1 VAR_001648 P02452:p.Gly272Cys SP substitution exon 1 VAR_001649 P02452:p.Gly275Asp SP substitution exon 1 VAR_001650 P02452:p.Gly332Arg SP substitution exon 1 VAR_001651 P02452:p.Gly350Arg SP substitution exon 1 VAR_001652 P02452:p.Gly353Cys SP substitution exon 1 VAR_001653 P02452:p.Gly356Cys SP substitution exon 1 VAR_001654 P02452:p.Gly383Cys SP substitution exon 1 VAR_001655 P02452:p.Gly389Cys SP substitution exon 1 VAR_001656 P02452:p.Gly389Arg SP substitution exon 1 VAR_001657 P02452:p.Gly398Ala SP substitution exon 1 VAR_001658 P02452:p.Gly398Asp SP substitution exon 1 VAR_001659 P02452:p.Gly401Cys SP substitution exon 1 VAR_001660 P02452:p.Gly404Cys SP substitution exon 1 VAR_001661 P02452:p.Gly422Cys SP substitution exon 1 VAR_001662 P02452:p.Gly425Ser SP substitution exon 1 VAR_001663 P02452:p.Gly434Val SP substitution exon 1 VAR_001664 P02452:p.Gly476Arg SP substitution exon 1 VAR_001665 P02452:p.Gly527Cys SP substitution exon 1 VAR_001666 P02452:p.Gly530Ser SP substitution exon 1 VAR_001667 P02452:p.Gly533Asp SP substitution exon 1 VAR_001668 P02452:p.Gly560Ser SP substitution exon 1 VAR_001669 P02452:p.Gly560Cys SP substitution exon 1 VAR_001670 P02452:p.Gly560Arg SP substitution exon 1 VAR_001671 P02452:p.Arg564His SP substitution exon 1 VAR_001672 P02452:p.Gly569Arg SP substitution exon 1 VAR_001673 P02452:p.Gly593Cys SP substitution exon 1 VAR_001674 P02452:p.Gly593Ser SP substitution exon 1 VAR_001676 P02452:p.Gly656Ser SP substitution exon 1 VAR_001677 P02452:p.Gly701Cys SP substitution exon 1 VAR_001678 P02452:p.Gly704Cys SP substitution exon 1 VAR_001679 P02452:p.Gly719Asp SP substitution exon 1 VAR_001680 P02452:p.Gly719Ser SP substitution exon 1 VAR_001681 P02452:p.Gly728Arg SP substitution exon 1 VAR_001682 P02452:p.Gly737Asp SP substitution exon 1 VAR_001683 P02452:p.Gly743Ser SP substitution exon 1 VAR_001684 P02452:p.Gly743Val SP substitution exon 1 VAR_001685 P02452:p.Gly764Val SP substitution exon 1 VAR_001686 P02452:p.Gly767Ser SP substitution exon 1 VAR_001687 P02452:p.Gly776Ser SP substitution exon 1 VAR_001688 P02452:p.Gly809Ser SP substitution exon 1 VAR_001689 P02452:p.Gly815Val SP substitution exon 1 VAR_001690 P02452:p.Gly821Ser SP substitution exon 1 VAR_001691 P02452:p.Pro823Ala SP substitution exon 1 VAR_001692 P02452:p.Gly839Ser SP substitution exon 1 VAR_001693 P02452:p.Gly842Arg SP substitution exon 1 VAR_001694 P02452:p.Gly845Arg SP substitution exon 1 VAR_001695 P02452:p.Gly851Asp SP substitution exon 1 VAR_001696 P02452:p.Gly869Cys SP substitution exon 1 VAR_001697 P02452:p.Gly884Ser SP substitution exon 1 VAR_001698 P02452:p.Gly896Cys SP substitution exon 1 VAR_001699 P02452:p.Gly926Cys SP substitution exon 1 VAR_001700 P02452:p.Gly980Val SP substitution exon 1 VAR_001701 P02452:p.Gly1010Ser SP substitution exon 1 VAR_001702 P02452:p.Gly1022Ser SP substitution exon 1 VAR_001703 P02452:p.Gly1022Val SP substitution exon 1 VAR_001704 P02452:p.Gly1025Arg SP substitution exon 1 VAR_001705 P02452:p.Gly1040Ser SP substitution exon 1 VAR_001706 P02452:p.Gly1043Ser SP substitution exon 1 VAR_001708 P02452:p.Gly1049Ser SP substitution exon 1 VAR_001709 P02452:p.Gly1058Ser SP substitution exon 1 VAR_001710 P02452:p.Gly1061Asp SP substitution exon 1 VAR_001711 P02452:p.Gly1061Ser SP substitution exon 1 VAR_001712 P02452:p.Thr1075Ala SP substitution exon 1 VAR_001713 P02452:p.Gly1076Ser SP substitution exon 1 VAR_001714 P02452:p.Gly1079Ser SP substitution exon 1 VAR_001715 P02452:p.Gly1082Cys SP substitution exon 1 VAR_001716 P02452:p.Gly1088Ala SP substitution exon 1 VAR_001717 P02452:p.Gly1091Ser SP substitution exon 1 VAR_001718 P02452:p.Gly1100Asp SP substitution exon 1 VAR_001719 P02452:p.Gly1106Ala SP substitution exon 1 VAR_001720 P02452:p.Gly1124Cys SP substitution exon 1 VAR_001721 P02452:p.Gly1142Ser SP substitution exon 1 VAR_001722 P02452:p.Gly1151Ser SP substitution exon 1 VAR_001723 P02452:p.Gly1151Val SP substitution exon 1 VAR_001724 P02452:p.Gly1154Arg SP substitution exon 1 VAR_001725 P02452:p.Gly1166Cys SP substitution exon 1 VAR_001726 P02452:p.Gly1172Asp SP substitution exon 1 VAR_001727 P02452:p.Gly1181Ser SP substitution exon 1 VAR_001728 P02452:p.Gly1184Val SP substitution exon 1 VAR_001729 P02452:p.Gly1187Ser SP substitution exon 1 VAR_001730 P02452:p.Gly1187Val SP substitution exon 1 VAR_001731 P02452:p.Gly1195Cys SP substitution exon 1 VAR_001732 P02452:p.Asp1277His SP substitution exon 1 VAR_001733 P02452:p.Trp1312Cys SP substitution exon 1 VAR_001735 P02452:p.Leu1388Arg SP substitution exon 1 VAR_001736 P02452:p.Thr1434Ser SP substitution exon 1 VAR_001737 P02452:p.Leu1464Pro SP substitution exon 1 VAR_001738 P02458:p.Gly267Asp SP substitution exon 1 VAR_001739 P02458:p.Arg275Cys SP substitution exon 1 VAR_001741 P02458:p.Gly303Asp SP substitution exon 1 VAR_001742 P02458:p.Gly354Arg SP substitution exon 1 VAR_001743 P02458:p.Gly375Arg SP substitution exon 1 VAR_001744 P02458:p.Gly447Ser SP substitution exon 1 VAR_001745 P02458:p.Gly492Val SP substitution exon 1 VAR_001746 P02458:p.Gly504Cys SP substitution exon 1 VAR_001747 P02458:p.Gly510Asp SP substitution exon 1 VAR_001748 P02458:p.Arg719Cys SP substitution exon 1 VAR_001749 P02458:p.Gly774Ser SP substitution exon 1 VAR_001751 P02458:p.Gly804Ala SP substitution exon 1 VAR_001752 P02458:p.Gly891Arg SP substitution exon 1 VAR_001753 P02458:p.Gly909Cys SP substitution exon 1 VAR_001754 P02458:p.Gly969Ser SP substitution exon 1 VAR_001755 P02458:p.Arg989Cys SP substitution exon 1 VAR_001756 P02458:p.Gly1005Ser SP substitution exon 1 VAR_001757 P02458:p.Gly1017Val SP substitution exon 1 VAR_001758 P02458:p.Gly1053Glu SP substitution exon 1 VAR_001759 P02458:p.Gly1110Cys SP substitution exon 1 VAR_001760 P02458:p.Gly1113Cys SP substitution exon 1 VAR_001761 P02458:p.Gly1143Ser SP substitution exon 1 VAR_001763 P02458:p.Gly1176Ser SP substitution exon 1 VAR_001764 P02458:p.Gly1188Arg SP substitution exon 1 VAR_001765 P02458:p.Gly1197Ser SP substitution exon 1 VAR_001767 P02461:p.Leu169Phe SP substitution exon 1 VAR_001768 P02461:p.Gly183Cys SP substitution exon 1 VAR_001769 P02461:p.Gly201Arg SP substitution exon 1 VAR_001770 P02461:p.Gly228Glu SP substitution exon 1 VAR_001771 P02461:p.Gly303Arg SP substitution exon 1 VAR_001772 P02461:p.Gly540Arg SP substitution exon 1 VAR_001773 P02461:p.Gly567Glu SP substitution exon 1 VAR_001774 P02461:p.Gly582Ser SP substitution exon 1 VAR_001775 P02461:p.Pro602Thr SP substitution exon 1 VAR_001776 P02461:p.Pro635Leu SP substitution exon 1 VAR_001777 P02461:p.Gly666Asp SP substitution exon 1 VAR_001778 P02461:p.Ala698Thr SP substitution exon 1 VAR_001779 P02461:p.Gly726Arg SP substitution exon 1 VAR_001780 P02461:p.Gly756Glu SP substitution exon 1 VAR_001781 P02461:p.Gly762Cys SP substitution exon 1 VAR_001782 P02461:p.Gly786Arg SP substitution exon 1 VAR_001783 P02461:p.Gly804Ser SP substitution exon 1 VAR_001784 P02461:p.Gly828Arg SP substitution exon 1 VAR_001785 P02461:p.Gly909Asp SP substitution exon 1 VAR_001786 P02461:p.Gly936Arg SP substitution exon 1 VAR_001787 P02461:p.Gly936Ser SP substitution exon 1 VAR_001788 P02461:p.Gly939Asp SP substitution exon 1 VAR_001789 P02461:p.Gly957Ser SP substitution exon 1 VAR_001790 P02461:p.Gly960Val SP substitution exon 1 VAR_001791 P02461:p.Gly996Glu SP substitution exon 1 VAR_001792 P02461:p.Gly1014Glu SP substitution exon 1 VAR_001793 P02461:p.Gly1050Asp SP substitution exon 1 VAR_001794 P02461:p.Gly1071Val SP substitution exon 1 VAR_001795 P02461:p.Gly1077Val SP substitution exon 1 VAR_001796 P02461:p.Gly1101Glu SP substitution exon 1 VAR_001797 P02461:p.Gly1104Ala SP substitution exon 1 VAR_001798 P02461:p.Gly1164Ser SP substitution exon 1 VAR_001799 P02461:p.Gly1167Val SP substitution exon 1 VAR_001800 P02461:p.Gly1170Asp SP substitution exon 1 VAR_001801 P02461:p.Gly1173Glu SP substitution exon 1 VAR_001802 P02461:p.Gly1176Val SP substitution exon 1 VAR_001803 P02461:p.Gly1182Glu SP substitution exon 1 VAR_001804 P02461:p.Gly1185Asp SP substitution exon 1 VAR_001805 P02461:p.Gly1185Val SP substitution exon 1 VAR_001806 P02461:p.Gly1188Glu SP substitution exon 1 VAR_001807 P02461:p.Gly1188Arg SP substitution exon 1 VAR_001808 P20908:p.Cys1639Ser SP substitution exon 1 VAR_001809 Q02388:p.Lys142Arg SP substitution exon 1 VAR_001810 Q02388:p.Pro595Leu SP substitution exon 1 VAR_001811 Q02388:p.Pro1277Leu SP substitution exon 1 VAR_001812 Q02388:p.Gly1557Arg SP substitution exon 1 VAR_001813 Q02388:p.Gly1782Arg SP substitution exon 1 VAR_001814 Q02388:p.Gly1982Trp SP substitution exon 1 VAR_001815 Q02388:p.Gly2003Arg SP substitution exon 1 VAR_001816 Q02388:p.Arg2008Gly SP substitution exon 1 VAR_001817 Q02388:p.Gly2025Ala SP substitution exon 1 VAR_001818 Q02388:p.Gly2034Arg SP substitution exon 1 VAR_001819 Q02388:p.Gly2040Ser SP substitution exon 1 VAR_001820 Q02388:p.Gly2043Arg SP substitution exon 1 VAR_001821 Q02388:p.Gly2049Glu SP substitution exon 1 VAR_001822 Q02388:p.Gly2055Glu SP substitution exon 1 VAR_001823 Q02388:p.Arg2063Trp SP substitution exon 1 VAR_001825 Q02388:p.Gly2073Asp SP substitution exon 1 VAR_001826 Q02388:p.Gly2076Asp SP substitution exon 1 VAR_001827 Q02388:p.Gly2079Glu SP substitution exon 1 VAR_001828 Q02388:p.Gly2242Arg SP substitution exon 1 VAR_001829 Q02388:p.Gly2351Arg SP substitution exon 1 VAR_001830 Q02388:p.Gly2569Arg SP substitution exon 1 VAR_001831 Q02388:p.Gly2575Arg SP substitution exon 1 VAR_001832 Q02388:p.Gly2623Cys SP substitution exon 1 VAR_001833 Q02388:p.Gly2653Arg SP substitution exon 1 VAR_001834 Q02388:p.Gly2671Val SP substitution exon 1 VAR_001835 Q02388:p.Gly2674Arg SP substitution exon 1 VAR_001836 Q02388:p.Gly2749Arg SP substitution exon 1 VAR_001837 Q02388:p.Met2798Lys SP substitution exon 1 VAR_001838 Q03692:p.Gly18Glu SP substitution exon 1 VAR_001839 Q03692:p.Gly18Arg SP substitution exon 1 VAR_001840 Q03692:p.Gly545Arg SP substitution exon 1 VAR_001841 Q03692:p.Cys591Arg SP substitution exon 1 VAR_001842 Q03692:p.Gly595Glu SP substitution exon 1 VAR_001843 Q03692:p.Tyr597His SP substitution exon 1 VAR_001844 Q03692:p.Tyr598Asp SP substitution exon 1 VAR_001845 Q03692:p.Ser600Pro SP substitution exon 1 VAR_001846 Q03692:p.Leu614Pro SP substitution exon 1 VAR_001847 Q03692:p.Asn617Lys SP substitution exon 1 VAR_001848 Q03692:p.Gly618Val SP substitution exon 1 VAR_001849 Q03692:p.Leu644Arg SP substitution exon 1 VAR_001850 Q03692:p.Asp648Gly SP substitution exon 1 VAR_001852 P08123:p.Gly211Asp SP substitution exon 1 VAR_001853 P08123:p.Ile249Asn SP substitution exon 1 VAR_001854 P08123:p.Ala276Thr SP substitution exon 1 VAR_001855 P08123:p.Gly328Ser SP substitution exon 1 VAR_001856 P08123:p.Gly334Cys SP substitution exon 1 VAR_001857 P08123:p.Gly337Cys SP substitution exon 1 VAR_001858 P08123:p.Gly337Ser SP substitution exon 1 VAR_001860 P08123:p.Gly349Cys SP substitution exon 1 VAR_001861 P08123:p.Gly409Val SP substitution exon 1 VAR_001862 P08123:p.Gly433Glu SP substitution exon 1 VAR_001863 P08123:p.Gly460Ser SP substitution exon 1 VAR_001864 P08123:p.Gly511Asp SP substitution exon 1 VAR_001865 P08123:p.Gly517Arg SP substitution exon 1 VAR_001866 P08123:p.Gly547Arg SP substitution exon 1 VAR_001867 P08123:p.Pro549Ala SP substitution exon 1 VAR_001868 P08123:p.Gly562Cys SP substitution exon 1 VAR_001869 P08123:p.Gly586Arg SP substitution exon 1 VAR_001870 P08123:p.Gly592Ser SP substitution exon 1 VAR_001871 P08123:p.Gly634Val SP substitution exon 1 VAR_001872 P08123:p.Gly637Asp SP substitution exon 1 VAR_001873 P08123:p.Gly640Ser SP substitution exon 1 VAR_001874 P08123:p.Gly670Asp SP substitution exon 1 VAR_001875 P08123:p.Gly676Val SP substitution exon 1 VAR_001876 P08123:p.Arg708Gln SP substitution exon 1 VAR_001877 P08123:p.Gly715Asp SP substitution exon 1 VAR_001878 P08123:p.Gly730Cys SP substitution exon 1 VAR_001879 P08123:p.Gly736Cys SP substitution exon 1 VAR_001880 P08123:p.Ala743Gly SP substitution exon 1 VAR_001881 P08123:p.Gly751Ser SP substitution exon 1 VAR_001882 P08123:p.Gly754Arg SP substitution exon 1 VAR_001883 P08123:p.Gly766Val SP substitution exon 1 VAR_001884 P08123:p.Gly778Ser SP substitution exon 1 VAR_001885 P08123:p.Gly784Arg SP substitution exon 1 VAR_001886 P08123:p.Gly787Cys SP substitution exon 1 VAR_001887 P08123:p.Gly790Asp SP substitution exon 1 VAR_001888 P08123:p.Gly796Ser SP substitution exon 1 VAR_001889 P08123:p.Arg822His SP substitution exon 1 VAR_001890 P08123:p.Gly835Ser SP substitution exon 1 VAR_001891 P08123:p.Gly877Cys SP substitution exon 1 VAR_001892 P08123:p.Gly892Asp SP substitution exon 1 VAR_001893 P08123:p.Gly895Asp SP substitution exon 1 VAR_001894 P08123:p.Gly949Ser SP substitution exon 1 VAR_001895 P08123:p.Gly955Ser SP substitution exon 1 VAR_001896 P08123:p.Gly997Asp SP substitution exon 1 VAR_001897 P08123:p.Gly1012Ser SP substitution exon 1 VAR_001898 P08123:p.Leu1022Phe SP substitution exon 1 VAR_001899 P08123:p.Gly1066Asp SP substitution exon 1 VAR_001900 P08123:p.Gly1078Cys SP substitution exon 1 VAR_001901 P08123:p.Gly1096Ala SP substitution exon 1 VAR_001902 P08123:p.Gly1102Arg SP substitution exon 1 VAR_001903 P08123:p.Pro1101Leu SP substitution exon 1 VAR_001904 P08123:p.Thr1148Pro SP substitution exon 1 VAR_001905 P08123:p.Asp1189Glu SP substitution exon 1 VAR_001906 P08123:p.Ser1198Pro SP substitution exon 1 VAR_001908 Q01955:p.Leu1474Pro SP substitution exon 1 VAR_001909 Q01955:p.Gln1495Arg SP substitution exon 1 VAR_001910 P12111:p.Gly1679Glu SP substitution exon 1 VAR_001911 P12111:p.Asp2831His SP substitution exon 1 VAR_001912 P53420:p.Gly897Glu SP substitution exon 1 VAR_001913 P53420:p.Gly1201Ser SP substitution exon 1 VAR_001975 P04141:p.Ile117Thr SP substitution exon 1 VAR_001978 P04003:p.Tyr357His SP substitution exon 1 VAR_001979 P08603:p.Tyr402His SP substitution exon 1 VAR_001980 Q03591:p.His157Tyr SP substitution exon 1 VAR_001981 Q03591:p.Leu159Val SP substitution exon 1 VAR_001982 Q03591:p.Glu175Gln SP substitution exon 1 VAR_001983 P01024:p.Arg102Gly SP substitution exon 1 VAR_001984 P01024:p.Pro314Leu SP substitution exon 1 VAR_001985 P01024:p.Asp549Asn SP substitution exon 1 VAR_001986 P01024:p.Arg1320Gln SP substitution exon 1 VAR_001996 P01031:p.Phe518Ser SP substitution exon 1 VAR_001997 P08174:p.Arg52Leu SP substitution exon 1 VAR_001998 P08174:p.Arg52Pro SP substitution exon 1 VAR_001999 P08174:p.Leu82Arg SP substitution exon 1 VAR_002000 P08174:p.Ser199Leu SP substitution exon 1 VAR_002001 P08174:p.Ala227Pro SP substitution exon 1 VAR_002002 P27918:p.Arg100Trp SP substitution exon 1 VAR_002003 P27918:p.Gln343Arg SP substitution exon 1 VAR_002004 P27918:p.Tyr414Asp SP substitution exon 1 VAR_002005 P48165:p.Pro88Ser SP substitution exon 1 VAR_002006 P08034:p.Trp3Arg SP substitution exon 1 VAR_002007 P08034:p.Trp3Ser SP substitution exon 1 VAR_002008 P08034:p.Tyr7Cys SP substitution exon 1 VAR_002009 P08034:p.Thr8Pro SP substitution exon 1 VAR_002010 P08034:p.Ser11Gly SP substitution exon 1 VAR_002011 P08034:p.Gly12Ser SP substitution exon 1 VAR_002012 P08034:p.Val13Leu SP substitution exon 1 VAR_002013 P08034:p.Val13Met SP substitution exon 1 VAR_002014 P08034:p.Asn14Lys SP substitution exon 1 VAR_002015 P08034:p.Arg15Gln SP substitution exon 1 VAR_002016 P08034:p.Arg15Trp SP substitution exon 1 VAR_002017 P08034:p.His16Pro SP substitution exon 1 VAR_002018 P08034:p.Ile20Ser SP substitution exon 1 VAR_002019 P08034:p.Gly21Asp SP substitution exon 1 VAR_002020 P08034:p.Arg22Gly SP substitution exon 1 VAR_002021 P08034:p.Arg22Pro SP substitution exon 1 VAR_002022 P08034:p.Arg22Gln SP substitution exon 1 VAR_002023 P08034:p.Val23Ala SP substitution exon 1 VAR_002024 P08034:p.Leu25Phe SP substitution exon 1 VAR_002025 P08034:p.Ser26Leu SP substitution exon 1 VAR_002026 P08034:p.Ile28Thr SP substitution exon 1 VAR_002028 P08034:p.Phe29Leu SP substitution exon 1 VAR_002029 P08034:p.Ile30Asn SP substitution exon 1 VAR_002030 P08034:p.Met34Thr SP substitution exon 1 VAR_002031 P08034:p.Met34Val SP substitution exon 1 VAR_002032 P08034:p.Val35Met SP substitution exon 1 VAR_002033 P08034:p.Val38Met SP substitution exon 1 VAR_002034 P08034:p.Ala39Pro SP substitution exon 1 VAR_002035 P08034:p.Ala39Val SP substitution exon 1 VAR_002036 P08034:p.Ala40Val SP substitution exon 1 VAR_002037 P08034:p.Glu41Lys SP substitution exon 1 VAR_002038 P08034:p.Val43Met SP substitution exon 1 VAR_002039 P08034:p.Trp44Leu SP substitution exon 1 VAR_002040 P08034:p.Ser49Tyr SP substitution exon 1 VAR_002041 P08034:p.Ser50Pro SP substitution exon 1 VAR_002042 P08034:p.Cys53Ser SP substitution exon 1 VAR_002043 P08034:p.Leu56Phe SP substitution exon 1 VAR_002044 P08034:p.Pro58Arg SP substitution exon 1 VAR_002045 P08034:p.Gly59Cys SP substitution exon 1 VAR_002046 P08034:p.Cys60Phe SP substitution exon 1 VAR_002047 P08034:p.Val63Ile SP substitution exon 1 VAR_002048 P08034:p.Cys64Ser SP substitution exon 1 VAR_002049 P08034:p.Tyr65Cys SP substitution exon 1 VAR_002051 P08034:p.Arg75Pro SP substitution exon 1 VAR_002052 P08034:p.Arg75Gln SP substitution exon 1 VAR_002053 P08034:p.Arg75Trp SP substitution exon 1 VAR_002054 P08034:p.Trp77Ser SP substitution exon 1 VAR_002055 P08034:p.Gln80Arg SP substitution exon 1 VAR_002056 P08034:p.Leu81Phe SP substitution exon 1 VAR_002057 P08034:p.Leu83Pro SP substitution exon 1 VAR_002058 P08034:p.Val84Ile SP substitution exon 1 VAR_002059 P08034:p.Ser85Cys SP substitution exon 1 VAR_002060 P08034:p.Ser85Phe SP substitution exon 1 VAR_002061 P08034:p.Thr86Ala SP substitution exon 1 VAR_002062 P08034:p.Thr86Asn SP substitution exon 1 VAR_002063 P08034:p.Thr86Ser SP substitution exon 1 VAR_002064 P08034:p.Pro87Ala SP substitution exon 1 VAR_002065 P08034:p.Pro87Leu SP substitution exon 1 VAR_002066 P08034:p.Pro87Ser SP substitution exon 1 VAR_002067 P08034:p.Leu89Pro SP substitution exon 1 VAR_002068 P08034:p.Leu90His SP substitution exon 1 VAR_002069 P08034:p.Met93Val SP substitution exon 1 VAR_002070 P08034:p.His94Gln SP substitution exon 1 VAR_002071 P08034:p.His94Tyr SP substitution exon 1 VAR_002072 P08034:p.Val95Met SP substitution exon 1 VAR_002073 P08034:p.His100Tyr SP substitution exon 1 VAR_002074 P08034:p.Glu102Gly SP substitution exon 1 VAR_002075 P08034:p.Lys103Glu SP substitution exon 1 VAR_002076 P08034:p.Arg107Trp SP substitution exon 1 VAR_002078 P08034:p.Lys124Asn SP substitution exon 1 VAR_002079 P08034:p.Ser128Pro SP substitution exon 1 VAR_002080 P08034:p.Trp133Cys SP substitution exon 1 VAR_002081 P08034:p.Trp133Arg SP substitution exon 1 VAR_002082 P08034:p.Tyr135Cys SP substitution exon 1 VAR_002083 P08034:p.Val139Met SP substitution exon 1 VAR_002084 P08034:p.Phe141Leu SP substitution exon 1 VAR_002085 P08034:p.Arg142Glu SP substitution exon 1 VAR_002086 P08034:p.Arg142Trp SP substitution exon 1 VAR_002088 P08034:p.Phe149Ile SP substitution exon 1 VAR_002089 P08034:p.Leu156Phe SP substitution exon 1 VAR_002090 P08034:p.Leu156Arg SP substitution exon 1 VAR_002091 P08034:p.Tyr157Cys SP substitution exon 1 VAR_002092 P08034:p.Pro158Ala SP substitution exon 1 VAR_002093 P08034:p.Pro158Arg SP substitution exon 1 VAR_002094 P08034:p.Pro158Ser SP substitution exon 1 VAR_002095 P08034:p.Gly159Ser SP substitution exon 1 VAR_002096 P08034:p.Tyr160His SP substitution exon 1 VAR_002097 P08034:p.Ala161Pro SP substitution exon 1 VAR_002098 P08034:p.Arg164Gln SP substitution exon 1 VAR_002099 P08034:p.Arg164Trp SP substitution exon 1 VAR_002100 P08034:p.Pro172Leu SP substitution exon 1 VAR_002101 P08034:p.Pro172Ser SP substitution exon 1 VAR_002102 P08034:p.Cys173Arg SP substitution exon 1 VAR_002103 P08034:p.Asn175Asp SP substitution exon 1 VAR_002104 P08034:p.Asp178Tyr SP substitution exon 1 VAR_002105 P08034:p.Cys179Arg SP substitution exon 1 VAR_002106 P08034:p.Phe180Leu SP substitution exon 1 VAR_002107 P08034:p.Val181Met SP substitution exon 1 VAR_002108 P08034:p.Ser182Thr SP substitution exon 1 VAR_002109 P08034:p.Arg183Cys SP substitution exon 1 VAR_002110 P08034:p.Arg183His SP substitution exon 1 VAR_002111 P08034:p.Arg183Ser SP substitution exon 1 VAR_002112 P08034:p.Pro184Arg SP substitution exon 1 VAR_002114 P08034:p.Glu186Lys SP substitution exon 1 VAR_002115 P08034:p.Lys187Glu SP substitution exon 1 VAR_002116 P08034:p.Val189Gly SP substitution exon 1 VAR_002117 P08034:p.Val189Ile SP substitution exon 1 VAR_002119 P08034:p.Phe193Cys SP substitution exon 1 VAR_002120 P08034:p.Met194Val SP substitution exon 1 VAR_002121 P08034:p.Ser198Phe SP substitution exon 1 VAR_002122 P08034:p.Gly199Arg SP substitution exon 1 VAR_002123 P08034:p.Cys201Arg SP substitution exon 1 VAR_002124 P08034:p.Ile203Asn SP substitution exon 1 VAR_002125 P08034:p.Leu204Phe SP substitution exon 1 VAR_002126 P08034:p.Asn205Ser SP substitution exon 1 VAR_002127 P08034:p.Glu208Lys SP substitution exon 1 VAR_002129 P08034:p.Arg215Trp SP substitution exon 1 VAR_002130 P08034:p.Arg219Cys SP substitution exon 1 VAR_002131 P08034:p.Arg219His SP substitution exon 1 VAR_002132 P08034:p.Arg220Gly SP substitution exon 1 VAR_002133 P08034:p.Arg230Cys SP substitution exon 1 VAR_002134 P08034:p.Arg230Leu SP substitution exon 1 VAR_002135 P08034:p.Phe235Cys SP substitution exon 1 VAR_002136 P08034:p.Arg238His SP substitution exon 1 VAR_002137 P29033:p.Val27Ile SP substitution exon 1 VAR_002138 P29033:p.Met34Thr SP substitution exon 1 VAR_002139 P29033:p.Val37Ile SP substitution exon 1 VAR_002140 P29033:p.Arg75Trp SP substitution exon 1 VAR_002141 P29033:p.Trp77Arg SP substitution exon 1 VAR_002142 P29033:p.Phe83Leu SP substitution exon 1 VAR_002143 P29033:p.Val84Leu SP substitution exon 1 VAR_002144 P29033:p.Val95Met SP substitution exon 1 VAR_002145 P29033:p.Ser113Arg SP substitution exon 1 VAR_002146 P29033:p.Gly160Ser SP substitution exon 1 VAR_002147 O75712:p.Gly12Asp SP substitution exon 1 VAR_002148 O75712:p.Gly12Arg SP substitution exon 1 VAR_002149 O75712:p.Cys86Ser SP substitution exon 1 VAR_002150 O75712:p.Glu183Lys SP substitution exon 1 VAR_002152 P36551:p.Gly189Ser SP substitution exon 1 VAR_002153 P36551:p.Gly197Trp SP substitution exon 1 VAR_002154 P36551:p.Glu201Lys SP substitution exon 1 VAR_002155 P36551:p.Pro249Ser SP substitution exon 1 VAR_002156 P36551:p.Asn272His SP substitution exon 1 VAR_002157 P36551:p.Gly280Arg SP substitution exon 1 VAR_002158 P36551:p.Val294Ile SP substitution exon 1 VAR_002159 P36551:p.His295Asp SP substitution exon 1 VAR_002160 P36551:p.Arg331Trp SP substitution exon 1 VAR_002162 P36551:p.Lys404Glu SP substitution exon 1 VAR_002163 P36551:p.Trp427Arg SP substitution exon 1 VAR_002164 P22528:p.Gln23His SP substitution exon 1 VAR_002165 P22528:p.Val61Leu SP substitution exon 1 VAR_002166 P22528:p.Ala80Pro SP substitution exon 1 VAR_002170 P13073:p.Tyr38Phe SP substitution exon 1 VAR_002171 P35520:p.Pro78Arg SP substitution exon 1 VAR_002172 P35520:p.Pro88Ser SP substitution exon 1 VAR_002173 P35520:p.Lys102Asn SP substitution exon 1 VAR_002174 P35520:p.Ala114Val SP substitution exon 1 VAR_002175 P35520:p.Arg125Gln SP substitution exon 1 VAR_002176 P35520:p.Glu131Asp SP substitution exon 1 VAR_002177 P35520:p.Glu144Lys SP substitution exon 1 VAR_002178 P35520:p.Pro145Leu SP substitution exon 1 VAR_002179 P35520:p.Cys165Tyr SP substitution exon 1 VAR_002180 P35520:p.Val168Met SP substitution exon 1 VAR_002181 P35520:p.Arg224His SP substitution exon 1 VAR_002182 P35520:p.Glu239Lys SP substitution exon 1 VAR_002183 P35520:p.Thr257Met SP substitution exon 1 VAR_002184 P35520:p.Ile278Thr SP substitution exon 1 VAR_002185 P35520:p.Pro290Leu SP substitution exon 1 VAR_002186 P35520:p.Gly307Ser SP substitution exon 1 VAR_002187 P35520:p.Ala331Val SP substitution exon 1 VAR_002188 P35520:p.Arg336Cys SP substitution exon 1 VAR_002189 P35520:p.Arg369His SP substitution exon 1 VAR_002190 P35520:p.Val371Met SP substitution exon 1 VAR_002191 P35520:p.Lys384Glu SP substitution exon 1 VAR_002192 P35520:p.Asp444Asn SP substitution exon 1 VAR_002196 P09172:p.Ala318Ser SP substitution exon 1 VAR_002200 P51687:p.Arg217Gln SP substitution exon 1 VAR_002201 P51687:p.Ala265Asp SP substitution exon 1 VAR_002202 P51687:p.Ser427Tyr SP substitution exon 1 VAR_002203 P51687:p.Gly530Asp SP substitution exon 1 VAR_002204 P99999:p.Met66Leu SP substitution exon 1 VAR_002206 P04080:p.Gly4Arg SP substitution exon 1 VAR_002207 P01034:p.Leu94Gln SP substitution exon 1 VAR_002208 P28325:p.Cys46Arg SP substitution exon 1 VAR_002209 P00813:p.Asp8Asn SP substitution exon 1 VAR_002210 P00813:p.His15Asp SP substitution exon 1 VAR_002211 P00813:p.Gly20Arg SP substitution exon 1 VAR_002212 P00813:p.Gly74Cys SP substitution exon 1 VAR_002213 P00813:p.Arg76Trp SP substitution exon 1 VAR_002214 P00813:p.Lys80Arg SP substitution exon 1 VAR_002215 P00813:p.Ala83Asp SP substitution exon 1 VAR_002216 P00813:p.Arg101Leu SP substitution exon 1 VAR_002217 P00813:p.Arg101Trp SP substitution exon 1 VAR_002218 P00813:p.Arg101Gln SP substitution exon 1 VAR_002219 P00813:p.Leu107Pro SP substitution exon 1 VAR_002220 P00813:p.Val129Met SP substitution exon 1 VAR_002221 P00813:p.Gly140Glu SP substitution exon 1 VAR_002222 P00813:p.Arg142Gln SP substitution exon 1 VAR_002223 P00813:p.Arg149Gln SP substitution exon 1 VAR_002224 P00813:p.Arg149Trp SP substitution exon 1 VAR_002225 P00813:p.Leu152Met SP substitution exon 1 VAR_002226 P00813:p.Arg156Cys SP substitution exon 1 VAR_002227 P00813:p.Arg156His SP substitution exon 1 VAR_002228 P00813:p.Val177Met SP substitution exon 1 VAR_002229 P00813:p.Ala179Asp SP substitution exon 1 VAR_002230 P00813:p.Gln199Pro SP substitution exon 1 VAR_002231 P00813:p.Arg211Cys SP substitution exon 1 VAR_002232 P00813:p.Arg211His SP substitution exon 1 VAR_002233 P00813:p.Ala215Thr SP substitution exon 1 VAR_002234 P00813:p.Gly216Arg SP substitution exon 1 VAR_002235 P00813:p.Thr233Ile SP substitution exon 1 VAR_002236 P00813:p.Pro274Leu SP substitution exon 1 VAR_002237 P00813:p.Ser291Leu SP substitution exon 1 VAR_002238 P00813:p.Pro297Gln SP substitution exon 1 VAR_002239 P00813:p.Leu304Arg SP substitution exon 1 VAR_002240 P00813:p.Ala329Val SP substitution exon 1 VAR_002243 P00491:p.Gly51Ser SP substitution exon 1 VAR_002244 P00491:p.Glu89Lys SP substitution exon 1 VAR_002245 P00491:p.Asp128Gly SP substitution exon 1 VAR_002248 P05091:p.Glu504Lys SP substitution exon 1 VAR_002249 P51648:p.Leu106Arg SP substitution exon 1 VAR_002250 P51648:p.Cys214Tyr SP substitution exon 1 VAR_002251 P51648:p.Cys226Trp SP substitution exon 1 VAR_002252 P51648:p.Asp245Asn SP substitution exon 1 VAR_002257 P30837:p.Ala86Val SP substitution exon 1 VAR_002258 P30837:p.Leu107Arg SP substitution exon 1 VAR_002259 P30038:p.Pro16Leu SP substitution exon 1 VAR_002260 P30038:p.Ser352Leu SP substitution exon 1 VAR_002262 P18858:p.Glu566Lys SP substitution exon 1 VAR_002264 P24855:p.Gln31Glu SP substitution exon 1 VAR_002265 P24855:p.Pro154Ala SP substitution exon 1 VAR_002266 P24855:p.Arg244Gln SP substitution exon 1 VAR_002267 Q14117:p.Thr68Arg SP substitution exon 1 VAR_002268 Q14117:p.Gln334Arg SP substitution exon 1 VAR_002269 Q14117:p.Trp360Arg SP substitution exon 1 VAR_002270 Q14117:p.Gly435Arg SP substitution exon 1 VAR_002271 Q14117:p.Arg490Thr SP substitution exon 1 VAR_002272 Q14188:p.Ile64Thr SP substitution exon 1 VAR_002273 P40939:p.Glu510Gln SP substitution exon 1 VAR_002275 P01133:p.Met708Ile SP substitution exon 1 VAR_002349 P35556:p.Val965Ile SP substitution exon 1 VAR_002350 P35556:p.Cys1253Tyr SP substitution exon 1 VAR_002351 P35556:p.Cys1434Ser SP substitution exon 1 VAR_002352 P41091:p.Lys125Arg SP substitution exon 1 VAR_002353 P14138:p.Cys159Phe SP substitution exon 1 VAR_002354 P09104:p.Pro264Ala SP substitution exon 1 VAR_002355 P09104:p.Thr395Ala SP substitution exon 1 VAR_002356 Q15768:p.Arg166Gln SP substitution exon 1 VAR_002359 P22303:p.His353Asn SP substitution exon 1 VAR_002360 P06276:p.Asp98Gly SP substitution exon 1 VAR_002362 P06276:p.Leu358Ile SP substitution exon 1 VAR_002364 P06276:p.Ala567Thr SP substitution exon 1 VAR_002365 P01266:p.Gln870His SP substitution exon 1 VAR_002366 P13804:p.Gly116Arg SP substitution exon 1 VAR_002367 P13804:p.Val157Gly SP substitution exon 1 VAR_002368 P13804:p.Thr266Met SP substitution exon 1 VAR_002369 P38117:p.Arg164Gln SP substitution exon 1 VAR_002370 Q16394:p.Arg280Gly SP substitution exon 1 VAR_002371 Q16394:p.Arg280Ser SP substitution exon 1 VAR_002372 Q16394:p.Gly339Asp SP substitution exon 1 VAR_002373 Q16394:p.Arg340Cys SP substitution exon 1 VAR_002374 Q16394:p.Arg340His SP substitution exon 1 VAR_002375 Q16394:p.Arg340Leu SP substitution exon 1 VAR_002376 Q16394:p.Arg340Ser SP substitution exon 1 VAR_002378 Q93063:p.Asp227Asn SP substitution exon 1 VAR_002379 P12104:p.Ala55Thr SP substitution exon 1 VAR_002380 P09467:p.Gly164Ser SP substitution exon 1 VAR_002381 P09467:p.Ala177Asp SP substitution exon 1 VAR_002382 P09467:p.Val325Ala SP substitution exon 1 VAR_002383 P22830:p.Gly55Cys SP substitution exon 1 VAR_002384 P22830:p.Ile186Thr SP substitution exon 1 VAR_002385 P22830:p.Met267Ile SP substitution exon 1 VAR_002390 P02671:p.Asp26Asn SP substitution exon 1 VAR_002391 P02671:p.Gly31Val SP substitution exon 1 VAR_002392 P02671:p.Arg35Cys SP substitution exon 1 VAR_002393 P02671:p.Arg35His SP substitution exon 1 VAR_002394 P02671:p.Pro37Leu SP substitution exon 1 VAR_002395 P02671:p.Arg38Asn SP substitution exon 1 VAR_002396 P02671:p.Arg38Ser SP substitution exon 1 VAR_002397 P02671:p.Arg38Gly SP substitution exon 1 VAR_002398 P02671:p.Ser66Thr SP substitution exon 1 VAR_002399 P02671:p.Arg160Ser SP substitution exon 1 VAR_002400 P02671:p.Ser453Asn SP substitution exon 1 VAR_002401 P02671:p.Arg573Cys SP substitution exon 1 VAR_002403 P02675:p.Arg44Cys SP substitution exon 1 VAR_002404 P02675:p.Gly45Arg SP substitution exon 1 VAR_002405 P02675:p.Arg74Cys SP substitution exon 1 VAR_002406 P02675:p.Ala98Thr SP substitution exon 1 VAR_002407 P02675:p.Ala365Thr SP substitution exon 1 VAR_002409 P02679:p.Arg301Cys SP substitution exon 1 VAR_002410 P02679:p.Arg301His SP substitution exon 1 VAR_002411 P02679:p.Gly318Val SP substitution exon 1 VAR_002412 P02679:p.Asn334Lys SP substitution exon 1 VAR_002413 P02679:p.Asn334Ile SP substitution exon 1 VAR_002414 P02679:p.Met336Thr SP substitution exon 1 VAR_002416 P02679:p.Gln355Arg SP substitution exon 1 VAR_002417 P02679:p.Asp356Tyr SP substitution exon 1 VAR_002418 P02679:p.Asp356Val SP substitution exon 1 VAR_002419 P02679:p.Asn363Lys SP substitution exon 1 VAR_002421 P02679:p.Ser384Cys SP substitution exon 1 VAR_002422 P02679:p.Arg401Gly SP substitution exon 1 VAR_002423 P31513:p.Met66Ile SP substitution exon 1 VAR_002424 P31513:p.Pro153Leu SP substitution exon 1 VAR_002425 P31513:p.Glu158Lys SP substitution exon 1 VAR_002426 P31513:p.Val257Met SP substitution exon 1 VAR_002427 P31513:p.Glu308Gly SP substitution exon 1 VAR_002428 Q16595:p.Asp122Tyr SP substitution exon 1 VAR_002429 Q16595:p.Gly130Val SP substitution exon 1 VAR_002430 Q16595:p.Ile154Phe SP substitution exon 1 VAR_002431 Q16595:p.Trp155Arg SP substitution exon 1 VAR_002432 P04839:p.His101Arg SP substitution exon 1 VAR_002433 P04839:p.Ala156Thr SP substitution exon 1 VAR_002434 P04839:p.His209Tyr SP substitution exon 1 VAR_002435 P04839:p.Glu225Val SP substitution exon 1 VAR_002436 P04839:p.Cys244Ser SP substitution exon 1 VAR_002437 P04839:p.Cys244Tyr SP substitution exon 1 VAR_002442 P04066:p.Gly65Asp SP substitution exon 1 VAR_002443 P04066:p.Ser68Leu SP substitution exon 1 VAR_002444 P04066:p.Gln286Arg SP substitution exon 1 VAR_002445 P07954:p.Lys230Arg SP substitution exon 1 VAR_002446 P07954:p.Ala308Thr SP substitution exon 1 VAR_002447 P07954:p.Phe312Cys SP substitution exon 1 VAR_002448 P07954:p.Asp425Val SP substitution exon 1 VAR_002450 P11413:p.Val12Leu SP substitution exon 1 VAR_002451 P11413:p.His32Arg SP substitution exon 1 VAR_002453 P11413:p.Ala44Gly SP substitution exon 1 VAR_002454 P11413:p.Ile48Thr SP substitution exon 1 VAR_002455 P11413:p.Asp58Asn SP substitution exon 1 VAR_002456 P11413:p.Val68Met SP substitution exon 1 VAR_002457 P11413:p.Tyr70His SP substitution exon 1 VAR_002458 P11413:p.Leu75Pro SP substitution exon 1 VAR_002459 P11413:p.Arg81His SP substitution exon 1 VAR_002460 P11413:p.Arg81Cys SP substitution exon 1 VAR_002461 P11413:p.Ser106Cys SP substitution exon 1 VAR_002462 P11413:p.Asn126Asp SP substitution exon 1 VAR_002463 P11413:p.Leu128Pro SP substitution exon 1 VAR_002464 P11413:p.Gly131Val SP substitution exon 1 VAR_002465 P11413:p.Glu156Lys SP substitution exon 1 VAR_002466 P11413:p.Gly163Ser SP substitution exon 1 VAR_002467 P11413:p.Gly163Asp SP substitution exon 1 VAR_002468 P11413:p.Asn165Asp SP substitution exon 1 VAR_002469 P11413:p.Arg166His SP substitution exon 1 VAR_002470 P11413:p.Asp176Gly SP substitution exon 1 VAR_002471 P11413:p.Asp181Val SP substitution exon 1 VAR_002472 P11413:p.Arg182Trp SP substitution exon 1 VAR_002473 P11413:p.Ser188Phe SP substitution exon 1 VAR_002474 P11413:p.Arg198Cys SP substitution exon 1 VAR_002475 P11413:p.Arg198Pro SP substitution exon 1 VAR_002476 P11413:p.Met212Val SP substitution exon 1 VAR_002477 P11413:p.Val213Leu SP substitution exon 1 VAR_002478 P11413:p.Phe216Leu SP substitution exon 1 VAR_002479 P11413:p.Arg227Gln SP substitution exon 1 VAR_002480 P11413:p.Arg227Leu SP substitution exon 1 VAR_002482 P11413:p.Arg257Gly SP substitution exon 1 VAR_002483 P11413:p.Glu274Lys SP substitution exon 1 VAR_002484 P11413:p.Ser278Phe SP substitution exon 1 VAR_002485 P11413:p.Thr279Ser SP substitution exon 1 VAR_002486 P11413:p.Asp282His SP substitution exon 1 VAR_002487 P11413:p.Arg285His SP substitution exon 1 VAR_002488 P11413:p.Val291Met SP substitution exon 1 VAR_002489 P11413:p.Glu317Lys SP substitution exon 1 VAR_002490 P11413:p.Leu323Pro SP substitution exon 1 VAR_002491 P11413:p.Ala335Thr SP substitution exon 1 VAR_002492 P11413:p.Leu342Phe SP substitution exon 1 VAR_002493 P11413:p.Pro353Ser SP substitution exon 1 VAR_002494 P11413:p.Asn363Lys SP substitution exon 1 VAR_002495 P11413:p.Cys385Arg SP substitution exon 1 VAR_002496 P11413:p.Lys386Glu SP substitution exon 1 VAR_002497 P11413:p.Arg387His SP substitution exon 1 VAR_002498 P11413:p.Arg387Cys SP substitution exon 1 VAR_002499 P11413:p.Arg393His SP substitution exon 1 VAR_002500 P11413:p.Val394Leu SP substitution exon 1 VAR_002501 P11413:p.Pro396Leu SP substitution exon 1 VAR_002502 P11413:p.Glu398Lys SP substitution exon 1 VAR_002503 P11413:p.Gly410Cys SP substitution exon 1 VAR_002504 P11413:p.Gly410Asp SP substitution exon 1 VAR_002505 P11413:p.Glu416Lys SP substitution exon 1 VAR_002506 P11413:p.Arg439Pro SP substitution exon 1 VAR_002507 P11413:p.Leu440Phe SP substitution exon 1 VAR_002508 P11413:p.Gly447Arg SP substitution exon 1 VAR_002509 P11413:p.Gln449His SP substitution exon 1 VAR_002510 P11413:p.Arg454Cys SP substitution exon 1 VAR_002511 P11413:p.Arg454His SP substitution exon 1 VAR_002512 P11413:p.Arg459Leu SP substitution exon 1 VAR_002513 P11413:p.Arg459Pro SP substitution exon 1 VAR_002514 P11413:p.Arg463His SP substitution exon 1 VAR_002515 P11413:p.Gly488Val SP substitution exon 1 VAR_002516 P06744:p.Thr5Ile SP substitution exon 1 VAR_002517 P06744:p.His20Pro SP substitution exon 1 VAR_002518 P06744:p.Arg75Gly SP substitution exon 1 VAR_002519 P06744:p.Arg83Trp SP substitution exon 1 VAR_002520 P06744:p.Gly159Ser SP substitution exon 1 VAR_002521 P06744:p.Val101Met SP substitution exon 1 VAR_002522 P06744:p.Thr195Ile SP substitution exon 1 VAR_002523 P06744:p.Thr224Met SP substitution exon 1 VAR_002524 P06744:p.Arg273His SP substitution exon 1 VAR_002525 P06744:p.Ser278Leu SP substitution exon 1 VAR_002526 P06744:p.Ala300Pro SP substitution exon 1 VAR_002527 P06744:p.Leu339Pro SP substitution exon 1 VAR_002528 P06744:p.Gln343Arg SP substitution exon 1 VAR_002529 P06744:p.Arg347Cys SP substitution exon 1 VAR_002530 P06744:p.Arg347His SP substitution exon 1 VAR_002531 P06744:p.Thr375Arg SP substitution exon 1 VAR_002532 P06744:p.His389Arg SP substitution exon 1 VAR_002533 P06744:p.Arg472His SP substitution exon 1 VAR_002534 P06744:p.Leu487Phe SP substitution exon 1 VAR_002535 P06744:p.Glu495Lys SP substitution exon 1 VAR_002536 P06744:p.Leu517Val SP substitution exon 1 VAR_002537 P06744:p.Ile525Thr SP substitution exon 1 VAR_002538 P06744:p.Asp539Asn SP substitution exon 1 VAR_002539 Q14376:p.Asn34Ser SP substitution exon 1 VAR_002540 Q14376:p.Gly90Glu SP substitution exon 1 VAR_002541 Q14376:p.Asp103Gly SP substitution exon 1 VAR_002542 Q14376:p.Ala180Val SP substitution exon 1 VAR_002543 Q14376:p.Leu183Pro SP substitution exon 1 VAR_002544 Q14376:p.Lys257Arg SP substitution exon 1 VAR_002547 P51570:p.Val32Met SP substitution exon 1 VAR_002548 P07902:p.Asp28Tyr SP substitution exon 1 VAR_002549 P07902:p.Ile32Asn SP substitution exon 1 VAR_002550 P07902:p.Gln38Pro SP substitution exon 1 VAR_002551 P07902:p.Val44Leu SP substitution exon 1 VAR_002552 P07902:p.Val44Met SP substitution exon 1 VAR_002553 P07902:p.Arg51Leu SP substitution exon 1 VAR_002554 P07902:p.Gly55Cys SP substitution exon 1 VAR_002555 P07902:p.Leu62Met SP substitution exon 1 VAR_002556 P07902:p.Arg67Cys SP substitution exon 1 VAR_002557 P07902:p.Leu74Pro SP substitution exon 1 VAR_002558 P07902:p.Ala81Thr SP substitution exon 1 VAR_002559 P07902:p.Asn97Ser SP substitution exon 1 VAR_002560 P07902:p.Asp98Asn SP substitution exon 1 VAR_002561 P07902:p.Asp113Asn SP substitution exon 1 VAR_002562 P07902:p.His114Leu SP substitution exon 1 VAR_002563 P07902:p.Phe117Ser SP substitution exon 1 VAR_002564 P07902:p.Gln118His SP substitution exon 1 VAR_002565 P07902:p.Arg123Gly SP substitution exon 1 VAR_002566 P07902:p.Arg123Gln SP substitution exon 1 VAR_002567 P07902:p.Val125Ala SP substitution exon 1 VAR_002568 P07902:p.Lys127Glu SP substitution exon 1 VAR_002569 P07902:p.Cys130Tyr SP substitution exon 1 VAR_002570 P07902:p.His132Tyr SP substitution exon 1 VAR_002571 P07902:p.Ser135Leu SP substitution exon 1 VAR_002572 P07902:p.Thr138Met SP substitution exon 1 VAR_002573 P07902:p.Leu139Pro SP substitution exon 1 VAR_002574 P07902:p.Met142Lys SP substitution exon 1 VAR_002575 P07902:p.Met142Val SP substitution exon 1 VAR_002576 P07902:p.Ser143Leu SP substitution exon 1 VAR_002577 P07902:p.Arg148Gly SP substitution exon 1 VAR_002578 P07902:p.Arg148Gln SP substitution exon 1 VAR_002579 P07902:p.Arg148Trp SP substitution exon 1 VAR_002580 P07902:p.Val150Leu SP substitution exon 1 VAR_002581 P07902:p.Val151Ala SP substitution exon 1 VAR_002582 P07902:p.Trp154Gly SP substitution exon 1 VAR_002583 P07902:p.Phe171Ser SP substitution exon 1 VAR_002584 P07902:p.Gly179Asp SP substitution exon 1 VAR_002585 P07902:p.Pro183Thr SP substitution exon 1 VAR_002586 P07902:p.His184Gln SP substitution exon 1 VAR_002587 P07902:p.Gln188Arg SP substitution exon 1 VAR_002588 P07902:p.Ser192Asn SP substitution exon 1 VAR_002589 P07902:p.Phe194Leu SP substitution exon 1 VAR_002590 P07902:p.Leu195Pro SP substitution exon 1 VAR_002591 P07902:p.Ile198Met SP substitution exon 1 VAR_002592 P07902:p.Ile198Thr SP substitution exon 1 VAR_002593 P07902:p.Ala199Thr SP substitution exon 1 VAR_002594 P07902:p.Arg201His SP substitution exon 1 VAR_002595 P07902:p.Glu203Lys SP substitution exon 1 VAR_002596 P07902:p.Tyr209Cys SP substitution exon 1 VAR_002597 P07902:p.Tyr209Ser SP substitution exon 1 VAR_002598 P07902:p.Gln212His SP substitution exon 1 VAR_002599 P07902:p.Leu217Pro SP substitution exon 1 VAR_002600 P07902:p.Leu226Pro SP substitution exon 1 VAR_002601 P07902:p.Arg231His SP substitution exon 1 VAR_002602 P07902:p.Trp249Arg SP substitution exon 1 VAR_002603 P07902:p.Tyr251Cys SP substitution exon 1 VAR_002604 P07902:p.Tyr251Ser SP substitution exon 1 VAR_002605 P07902:p.Arg258Cys SP substitution exon 1 VAR_002606 P07902:p.Arg259Trp SP substitution exon 1 VAR_002607 P07902:p.Arg262Pro SP substitution exon 1 VAR_002608 P07902:p.Leu282Val SP substitution exon 1 VAR_002609 P07902:p.Lys285Asn SP substitution exon 1 VAR_002610 P07902:p.Leu289Arg SP substitution exon 1 VAR_002611 P07902:p.Glu291Lys SP substitution exon 1 VAR_002612 P07902:p.Glu308Lys SP substitution exon 1 VAR_002613 P07902:p.Asn314Asp SP substitution exon 1 VAR_002614 P07902:p.Gln317His SP substitution exon 1 VAR_002615 P07902:p.Gln317Arg SP substitution exon 1 VAR_002616 P07902:p.His319Gln SP substitution exon 1 VAR_002617 P07902:p.Ala320Thr SP substitution exon 1 VAR_002618 P07902:p.Tyr323Asp SP substitution exon 1 VAR_002619 P07902:p.Tyr323His SP substitution exon 1 VAR_002620 P07902:p.Pro324Ser SP substitution exon 1 VAR_002621 P07902:p.Pro325Leu SP substitution exon 1 VAR_002622 P07902:p.Arg328His SP substitution exon 1 VAR_002623 P07902:p.Ser329Phe SP substitution exon 1 VAR_002624 P07902:p.Ala330Val SP substitution exon 1 VAR_002625 P07902:p.Arg333Gly SP substitution exon 1 VAR_002626 P07902:p.Arg333Gln SP substitution exon 1 VAR_002627 P07902:p.Arg333Trp SP substitution exon 1 VAR_002628 P07902:p.Lys334Arg SP substitution exon 1 VAR_002629 P07902:p.Met336Leu SP substitution exon 1 VAR_002630 P07902:p.Gln344Lys SP substitution exon 1 VAR_002631 P07902:p.Thr350Ala SP substitution exon 1 VAR_002632 P30793:p.Gly15Asp SP substitution exon 1 VAR_002633 P30793:p.Pro23Leu SP substitution exon 1 VAR_002634 P30793:p.Leu79Pro SP substitution exon 1 VAR_002635 P30793:p.Arg88Pro SP substitution exon 1 VAR_002636 P30793:p.Arg88Trp SP substitution exon 1 VAR_002637 P30793:p.Met102Lys SP substitution exon 1 VAR_002638 P30793:p.Asp134Val SP substitution exon 1 VAR_002639 P30793:p.Cys141Trp SP substitution exon 1 VAR_002640 P30793:p.His144Pro SP substitution exon 1 VAR_002641 P30793:p.His153Pro SP substitution exon 1 VAR_002650 P20936:p.Arg398Leu SP substitution exon 1 VAR_002651 P20936:p.Lys400Glu SP substitution exon 1 VAR_002652 P20936:p.Ile401Val SP substitution exon 1 VAR_002653 P21359:p.Gly629Arg SP substitution exon 1 VAR_002654 P21359:p.Leu844Arg SP substitution exon 1 VAR_002655 P21359:p.Leu898Pro SP substitution exon 1 VAR_002657 P21359:p.Met1035Arg SP substitution exon 1 VAR_002658 P21359:p.Lys1440Arg SP substitution exon 1 VAR_002659 P21359:p.Lys1444Glu SP substitution exon 1 VAR_002660 P21359:p.Arg1611Trp SP substitution exon 1 VAR_002662 P21359:p.Trp1952Arg SP substitution exon 1 VAR_002663 P21359:p.Leu1953Pro SP substitution exon 1 VAR_002664 P21359:p.Leu2164Met SP substitution exon 1 VAR_002665 P21359:p.Tyr2192Asn SP substitution exon 1 VAR_002667 P21359:p.Thr2631Ala SP substitution exon 1 VAR_002668 P31785:p.Asp39Asn SP substitution exon 1 VAR_002669 P31785:p.Cys62Gly SP substitution exon 1 VAR_002670 P31785:p.Glu68Gly SP substitution exon 1 VAR_002671 P31785:p.Glu68Lys SP substitution exon 1 VAR_002672 P31785:p.Asn84Lys SP substitution exon 1 VAR_002673 P31785:p.Tyr89Cys SP substitution exon 1 VAR_002674 P31785:p.Tyr105Cys SP substitution exon 1 VAR_002675 P31785:p.Gly114Asp SP substitution exon 1 VAR_002676 P31785:p.Cys115Phe SP substitution exon 1 VAR_002677 P31785:p.Cys115Arg SP substitution exon 1 VAR_002678 P31785:p.His123Pro SP substitution exon 1 VAR_002679 P31785:p.Tyr125Asn SP substitution exon 1 VAR_002680 P31785:p.Gln144Pro SP substitution exon 1 VAR_002681 P31785:p.Ile153Asn SP substitution exon 1 VAR_002682 P31785:p.Ala156Val SP substitution exon 1 VAR_002683 P31785:p.Leu162His SP substitution exon 1 VAR_002684 P31785:p.Leu172Pro SP substitution exon 1 VAR_002685 P31785:p.Leu172Gln SP substitution exon 1 VAR_002686 P31785:p.Cys182Arg SP substitution exon 1 VAR_002687 P31785:p.Leu183Ser SP substitution exon 1 VAR_002688 P31785:p.Arg222Cys SP substitution exon 1 VAR_002689 P31785:p.Arg224Trp SP substitution exon 1 VAR_002690 P31785:p.Arg226Cys SP substitution exon 1 VAR_002691 P31785:p.Arg226His SP substitution exon 1 VAR_002692 P31785:p.Phe227Cys SP substitution exon 1 VAR_002693 P31785:p.Leu230Pro SP substitution exon 1 VAR_002694 P31785:p.Cys231Tyr SP substitution exon 1 VAR_002695 P31785:p.Gly232Arg SP substitution exon 1 VAR_002697 P31785:p.Trp240Cys SP substitution exon 1 VAR_002698 P31785:p.Ser241Ile SP substitution exon 1 VAR_002699 P31785:p.Met270Arg SP substitution exon 1 VAR_002701 P31785:p.Arg285Gln SP substitution exon 1 VAR_002702 P31785:p.Leu293Gln SP substitution exon 1 VAR_002703 P48357:p.Lys109Arg SP substitution exon 1 VAR_002704 P48357:p.Lys204Arg SP substitution exon 1 VAR_002705 P48357:p.Gln223Arg SP substitution exon 1 VAR_002706 P48357:p.Lys656Asn SP substitution exon 1 VAR_002707 P48357:p.Ser675Thr SP substitution exon 1 VAR_002708 P10912:p.Glu62Lys SP substitution exon 1 VAR_002709 P10912:p.Arg89Lys SP substitution exon 1 VAR_002710 P10912:p.Phe114Ser SP substitution exon 1 VAR_002711 P10912:p.Val143Ala SP substitution exon 1 VAR_002712 P10912:p.Val162Asp SP substitution exon 1 VAR_002713 P10912:p.Asp170His SP substitution exon 1 VAR_002714 P10912:p.Arg179Cys SP substitution exon 1 VAR_002715 P10912:p.Arg229Gly SP substitution exon 1 VAR_002716 P10912:p.Glu242Asp SP substitution exon 1 VAR_002717 P17181:p.Val168Leu SP substitution exon 1 VAR_002718 P38484:p.Gln64Arg SP substitution exon 1 VAR_002719 P69905:p.Val2Glu SP substitution exon 1 VAR_002720 P69905:p.Leu3Arg SP substitution exon 1 VAR_002721 P69905:p.Ala6Asp SP substitution exon 1 VAR_002722 P69905:p.Ala6Pro SP substitution exon 1 VAR_002723 P69905:p.Asp7Ala SP substitution exon 1 VAR_002724 P69905:p.Asp7Gly SP substitution exon 1 VAR_002725 P69905:p.Asp7Asn SP substitution exon 1 VAR_002726 P69905:p.Asp7Val SP substitution exon 1 VAR_002727 P69905:p.Asp7Tyr SP substitution exon 1 VAR_002728 P69905:p.Lys8Glu SP substitution exon 1 VAR_002729 P69905:p.Lys12Glu SP substitution exon 1 VAR_002730 P69905:p.Ala13Asp SP substitution exon 1 VAR_002731 P69905:p.Trp15Arg SP substitution exon 1 VAR_002732 P69905:p.Gly16Arg SP substitution exon 1 VAR_002733 P69905:p.Lys17Met SP substitution exon 1 VAR_002734 P69905:p.Lys17Asn SP substitution exon 1 VAR_002735 P69905:p.Gly19Asp SP substitution exon 1 VAR_002736 P69905:p.Gly19Arg SP substitution exon 1 VAR_002737 P69905:p.Ala20Asp SP substitution exon 1 VAR_002738 P69905:p.Ala20Glu SP substitution exon 1 VAR_002739 P69905:p.His21Gln SP substitution exon 1 VAR_002740 P69905:p.His21Arg SP substitution exon 1 VAR_002741 P69905:p.Ala22Asp SP substitution exon 1 VAR_002742 P69905:p.Ala22Pro SP substitution exon 1 VAR_002743 P69905:p.Gly23Asp SP substitution exon 1 VAR_002744 P69905:p.Glu24Gly SP substitution exon 1 VAR_002745 P69905:p.Glu24Lys SP substitution exon 1 VAR_002746 P69905:p.Tyr25His SP substitution exon 1 VAR_002747 P69905:p.Ala27Glu SP substitution exon 1 VAR_002748 P69905:p.Glu28Asp SP substitution exon 1 VAR_002749 P69905:p.Glu28Gly SP substitution exon 1 VAR_002750 P69905:p.Glu28Val SP substitution exon 1 VAR_002751 P69905:p.Glu31Lys SP substitution exon 1 VAR_002752 P69905:p.Arg32Ser SP substitution exon 1 VAR_002753 P69905:p.Leu35Arg SP substitution exon 1 VAR_002754 P69905:p.Pro38Arg SP substitution exon 1 VAR_002756 P69905:p.Lys41Met SP substitution exon 1 VAR_002757 P69905:p.Thr42Ser SP substitution exon 1 VAR_002758 P69905:p.Phe44Leu SP substitution exon 1 VAR_002759 P69905:p.Pro45Leu SP substitution exon 1 VAR_002760 P69905:p.Pro45Arg SP substitution exon 1 VAR_002761 P69905:p.His46Gln SP substitution exon 1 VAR_002762 P69905:p.His46Arg SP substitution exon 1 VAR_002763 P69905:p.Asp48Ala SP substitution exon 1 VAR_002764 P69905:p.Asp48Gly SP substitution exon 1 VAR_002765 P69905:p.Asp48His SP substitution exon 1 VAR_002766 P69905:p.Asp48Tyr SP substitution exon 1 VAR_002767 P69905:p.Leu49Arg SP substitution exon 1 VAR_002768 P69905:p.Ser50Arg SP substitution exon 1 VAR_002769 P69905:p.His51Arg SP substitution exon 1 VAR_002770 P69905:p.Gly52Asp SP substitution exon 1 VAR_002771 P69905:p.Gly52Arg SP substitution exon 1 VAR_002772 P69905:p.Ala54Asp SP substitution exon 1 VAR_002773 P69905:p.Gln55Arg SP substitution exon 1 VAR_002774 P69905:p.Lys57Arg SP substitution exon 1 VAR_002775 P69905:p.Lys57Thr SP substitution exon 1 VAR_002776 P69905:p.Gly58Arg SP substitution exon 1 VAR_002777 P69905:p.His59Tyr SP substitution exon 1 VAR_002778 P69905:p.Gly60Asp SP substitution exon 1 VAR_002779 P69905:p.Gly60Val SP substitution exon 1 VAR_002780 P69905:p.Lys61Asn SP substitution exon 1 VAR_002782 P69905:p.Lys62Asn SP substitution exon 1 VAR_002783 P69905:p.Lys62Thr SP substitution exon 1 VAR_002784 P69905:p.Val63Met SP substitution exon 1 VAR_002785 P69905:p.Ala64Asp SP substitution exon 1 VAR_002786 P69905:p.Asp65Tyr SP substitution exon 1 VAR_002787 P69905:p.Asn69Lys SP substitution exon 1 VAR_002788 P69905:p.Ala72Glu SP substitution exon 1 VAR_002789 P69905:p.Ala72Val SP substitution exon 1 VAR_002790 P69905:p.His73Arg SP substitution exon 1 VAR_002791 P69905:p.Asp75Ala SP substitution exon 1 VAR_002792 P69905:p.Asp75Gly SP substitution exon 1 VAR_002793 P69905:p.Asp75Asn SP substitution exon 1 VAR_002794 P69905:p.Asp76Ala SP substitution exon 1 VAR_002795 P69905:p.Asp76His SP substitution exon 1 VAR_002796 P69905:p.Met77Lys SP substitution exon 1 VAR_002797 P69905:p.Met77Thr SP substitution exon 1 VAR_002798 P69905:p.Pro78Arg SP substitution exon 1 VAR_002799 P69905:p.Asn79His SP substitution exon 1 VAR_002800 P69905:p.Asn79Lys SP substitution exon 1 VAR_002801 P69905:p.Leu81Arg SP substitution exon 1 VAR_002802 P69905:p.Ser82Cys SP substitution exon 1 VAR_002803 P69905:p.Ala83Asp SP substitution exon 1 VAR_002804 P69905:p.Ser85Arg SP substitution exon 1 VAR_002805 P69905:p.Asp86Val SP substitution exon 1 VAR_002806 P69905:p.Asp86Tyr SP substitution exon 1 VAR_002807 P69905:p.Leu87Arg SP substitution exon 1 VAR_002808 P69905:p.His88Asn SP substitution exon 1 VAR_002809 P69905:p.His88Arg SP substitution exon 1 VAR_002810 P69905:p.Ala89Ser SP substitution exon 1 VAR_002811 P69905:p.Lys91Met SP substitution exon 1 VAR_002812 P69905:p.Leu92Pro SP substitution exon 1 VAR_002813 P69905:p.Arg93Gln SP substitution exon 1 VAR_002814 P69905:p.Asp95Tyr SP substitution exon 1 VAR_002815 P69905:p.Pro96Ala SP substitution exon 1 VAR_002816 P69905:p.Pro96Thr SP substitution exon 1 VAR_002817 P69905:p.Asn98Lys SP substitution exon 1 VAR_002818 P69905:p.Lys100Glu SP substitution exon 1 VAR_002819 P69905:p.Ser103Arg SP substitution exon 1 VAR_002820 P69905:p.His104Arg SP substitution exon 1 VAR_002821 P69905:p.Leu110Arg SP substitution exon 1 VAR_002822 P69905:p.Ala111Asp SP substitution exon 1 VAR_002823 P69905:p.His113Asp SP substitution exon 1 VAR_002824 P69905:p.Leu114His SP substitution exon 1 VAR_002825 P69905:p.Pro115Leu SP substitution exon 1 VAR_002826 P69905:p.Pro115Arg SP substitution exon 1 VAR_002827 P69905:p.Pro115Ser SP substitution exon 1 VAR_002828 P69905:p.Ala116Asp SP substitution exon 1 VAR_002829 P69905:p.Glu117Ala SP substitution exon 1 VAR_002833 P69905:p.Ala121Glu SP substitution exon 1 VAR_002834 P69905:p.Val122Met SP substitution exon 1 VAR_002835 P69905:p.His123Gln SP substitution exon 1 VAR_002836 P69905:p.Leu126Pro SP substitution exon 1 VAR_002837 P69905:p.Asp127Val SP substitution exon 1 VAR_002838 P69905:p.Asp127Tyr SP substitution exon 1 VAR_002839 P69905:p.Lys128Asn SP substitution exon 1 VAR_002840 P69905:p.Leu130Pro SP substitution exon 1 VAR_002841 P69905:p.Ala131Pro SP substitution exon 1 VAR_002842 P69905:p.Ala131Asp SP substitution exon 1 VAR_002843 P69905:p.Ser132Pro SP substitution exon 1 VAR_002844 P69905:p.Ser134Arg SP substitution exon 1 VAR_002845 P69905:p.Val136Glu SP substitution exon 1 VAR_002846 P69905:p.Leu137Met SP substitution exon 1 VAR_002847 P69905:p.Leu137Pro SP substitution exon 1 VAR_002848 P69905:p.Ser139Pro SP substitution exon 1 VAR_002849 P69905:p.Lys140Glu SP substitution exon 1 VAR_002850 P69905:p.Lys140Thr SP substitution exon 1 VAR_002851 P69905:p.Tyr141His SP substitution exon 1 VAR_002852 P69905:p.Arg142Cys SP substitution exon 1 VAR_002853 P69905:p.Arg142Leu SP substitution exon 1 VAR_002854 P69905:p.Arg142His SP substitution exon 1 VAR_002855 P69905:p.Arg142Pro SP substitution exon 1 VAR_002856 P68871:p.Val2Ala SP substitution exon 1 VAR_002857 P68871:p.His3Leu SP substitution exon 1 VAR_002858 P68871:p.His3Gln SP substitution exon 1 VAR_002859 P68871:p.His3Arg SP substitution exon 1 VAR_002860 P68871:p.His3Tyr SP substitution exon 1 VAR_002861 P68871:p.Pro6Arg SP substitution exon 1 VAR_002862 P68871:p.Glu7Ala SP substitution exon 1 VAR_002863 P68871:p.Glu7Val SP substitution exon 1 VAR_002864 P68871:p.Glu7Lys SP substitution exon 1 VAR_002865 P68871:p.Glu7Gln SP substitution exon 1 VAR_002866 P68871:p.Glu8Gly SP substitution exon 1 VAR_002867 P68871:p.Glu8Lys SP substitution exon 1 VAR_002868 P68871:p.Lys9Glu SP substitution exon 1 VAR_002869 P68871:p.Lys9Gln SP substitution exon 1 VAR_002870 P68871:p.Lys9Thr SP substitution exon 1 VAR_002871 P68871:p.Ser10Cys SP substitution exon 1 VAR_002872 P68871:p.Ala11Asp SP substitution exon 1 VAR_002873 P68871:p.Val12Asp SP substitution exon 1 VAR_002874 P68871:p.Val12Ile SP substitution exon 1 VAR_002875 P68871:p.Ala14Asp SP substitution exon 1 VAR_002876 P68871:p.Leu15Pro SP substitution exon 1 VAR_002877 P68871:p.Leu15Arg SP substitution exon 1 VAR_002878 P68871:p.Trp16Gly SP substitution exon 1 VAR_002879 P68871:p.Trp16Arg SP substitution exon 1 VAR_002880 P68871:p.Gly17Asp SP substitution exon 1 VAR_002881 P68871:p.Gly17Arg SP substitution exon 1 VAR_002882 P68871:p.Lys18Glu SP substitution exon 1 VAR_002883 P68871:p.Lys18Asn SP substitution exon 1 VAR_002884 P68871:p.Lys18Gln SP substitution exon 1 VAR_002885 P68871:p.Val19Met SP substitution exon 1 VAR_002886 P68871:p.Asn20Asp SP substitution exon 1 VAR_002887 P68871:p.Asn20Lys SP substitution exon 1 VAR_002888 P68871:p.Asn20Ser SP substitution exon 1 VAR_002889 P68871:p.Val21Met SP substitution exon 1 VAR_002890 P68871:p.Asp22Gly SP substitution exon 1 VAR_002891 P68871:p.Asp22Asn SP substitution exon 1 VAR_002892 P68871:p.Asp22His SP substitution exon 1 VAR_002893 P68871:p.Asp22Tyr SP substitution exon 1 VAR_002894 P68871:p.Glu23Ala SP substitution exon 1 VAR_002895 P68871:p.Glu23Gly SP substitution exon 1 VAR_002896 P68871:p.Glu23Lys SP substitution exon 1 VAR_002897 P68871:p.Glu23Gln SP substitution exon 1 VAR_002898 P68871:p.Glu23Val SP substitution exon 1 VAR_002899 P68871:p.Val24Asp SP substitution exon 1 VAR_002900 P68871:p.Val24Phe SP substitution exon 1 VAR_002901 P68871:p.Val24Gly SP substitution exon 1 VAR_002902 P68871:p.Gly25Asp SP substitution exon 1 VAR_002903 P68871:p.Gly25Arg SP substitution exon 1 VAR_002904 P68871:p.Gly25Val SP substitution exon 1 VAR_002905 P68871:p.Gly26Asp SP substitution exon 1 VAR_002906 P68871:p.Gly26Arg SP substitution exon 1 VAR_002907 P68871:p.Glu27Lys SP substitution exon 1 VAR_002908 P68871:p.Glu27Val SP substitution exon 1 VAR_002909 P68871:p.Ala28Asp SP substitution exon 1 VAR_002910 P68871:p.Ala28Ser SP substitution exon 1 VAR_002911 P68871:p.Ala28Val SP substitution exon 1 VAR_002912 P68871:p.Leu29Pro SP substitution exon 1 VAR_002913 P68871:p.Gly30Asp SP substitution exon 1 VAR_002914 P68871:p.Arg31Ser SP substitution exon 1 VAR_002915 P68871:p.Leu32Pro SP substitution exon 1 VAR_002916 P68871:p.Leu33Arg SP substitution exon 1 VAR_002917 P68871:p.Leu33Val SP substitution exon 1 VAR_002918 P68871:p.Val35Phe SP substitution exon 1 VAR_002919 P68871:p.Tyr36Phe SP substitution exon 1 VAR_002920 P68871:p.Pro37Arg SP substitution exon 1 VAR_002921 P68871:p.Pro37Ser SP substitution exon 1 VAR_002922 P68871:p.Pro37Thr SP substitution exon 1 VAR_002923 P68871:p.Trp38Gly SP substitution exon 1 VAR_002924 P68871:p.Trp38Ser SP substitution exon 1 VAR_002925 P68871:p.Trp38Arg SP substitution exon 1 VAR_002926 P68871:p.Thr39Asn SP substitution exon 1 VAR_002927 P68871:p.Gln40Glu SP substitution exon 1 VAR_002928 P68871:p.Gln40Lys SP substitution exon 1 VAR_002929 P68871:p.Gln40Arg SP substitution exon 1 VAR_002930 P68871:p.Phe42Tyr SP substitution exon 1 VAR_002931 P68871:p.Phe43Leu SP substitution exon 1 VAR_002932 P68871:p.Glu44Gln SP substitution exon 1 VAR_002933 P68871:p.Ser45Cys SP substitution exon 1 VAR_002934 P68871:p.Phe46Ser SP substitution exon 1 VAR_002935 P68871:p.Gly47Glu SP substitution exon 1 VAR_002936 P68871:p.Asp48Ala SP substitution exon 1 VAR_002937 P68871:p.Asp48Gly SP substitution exon 1 VAR_002938 P68871:p.Asp48Tyr SP substitution exon 1 VAR_002939 P68871:p.Leu49Pro SP substitution exon 1 VAR_002940 P68871:p.Ser50Phe SP substitution exon 1 VAR_002941 P68871:p.Thr51Lys SP substitution exon 1 VAR_002942 P68871:p.Pro52Arg SP substitution exon 1 VAR_002943 P68871:p.Asp53Ala SP substitution exon 1 VAR_002944 P68871:p.Asp53His SP substitution exon 1 VAR_002945 P68871:p.Val55Asp SP substitution exon 1 VAR_002946 P68871:p.Met56Lys SP substitution exon 1 VAR_002947 P68871:p.Gly57Arg SP substitution exon 1 VAR_002948 P68871:p.Asn58Lys SP substitution exon 1 VAR_002949 P68871:p.Pro59Arg SP substitution exon 1 VAR_002950 P68871:p.Lys60Glu SP substitution exon 1 VAR_002951 P68871:p.Val61Ala SP substitution exon 1 VAR_002952 P68871:p.Lys62Glu SP substitution exon 1 VAR_002953 P68871:p.Lys62Met SP substitution exon 1 VAR_002954 P68871:p.Lys62Asn SP substitution exon 1 VAR_002955 P68871:p.Ala63Asp SP substitution exon 1 VAR_002956 P68871:p.Ala63Pro SP substitution exon 1 VAR_002957 P68871:p.His64Tyr SP substitution exon 1 VAR_002958 P68871:p.Lys66Met SP substitution exon 1 VAR_002959 P68871:p.Lys66Asn SP substitution exon 1 VAR_002960 P68871:p.Lys66Gln SP substitution exon 1 VAR_002961 P68871:p.Lys67Thr SP substitution exon 1 VAR_002962 P68871:p.Val68Ala SP substitution exon 1 VAR_002963 P68871:p.Val68Met SP substitution exon 1 VAR_002964 P68871:p.Leu69His SP substitution exon 1 VAR_002965 P68871:p.Leu69Pro SP substitution exon 1 VAR_002966 P68871:p.Gly70Asp SP substitution exon 1 VAR_002967 P68871:p.Gly70Arg SP substitution exon 1 VAR_002968 P68871:p.Gly70Ser SP substitution exon 1 VAR_002969 P68871:p.Ala71Asp SP substitution exon 1 VAR_002970 P68871:p.Phe72Ser SP substitution exon 1 VAR_002971 P68871:p.Asp74Gly SP substitution exon 1 VAR_002972 P68871:p.Asp74Val SP substitution exon 1 VAR_002973 P68871:p.Asp74Tyr SP substitution exon 1 VAR_002974 P68871:p.Gly75Arg SP substitution exon 1 VAR_002975 P68871:p.Gly75Val SP substitution exon 1 VAR_002976 P68871:p.Leu76Pro SP substitution exon 1 VAR_002977 P68871:p.Leu76Arg SP substitution exon 1 VAR_002978 P68871:p.Ala77Asp SP substitution exon 1 VAR_002979 P68871:p.His78Asp SP substitution exon 1 VAR_002980 P68871:p.His78Arg SP substitution exon 1 VAR_002981 P68871:p.His78Tyr SP substitution exon 1 VAR_002982 P68871:p.Leu79Arg SP substitution exon 1 VAR_002983 P68871:p.Asp80Tyr SP substitution exon 1 VAR_002984 P68871:p.Asn81Lys SP substitution exon 1 VAR_002985 P68871:p.Leu82Arg SP substitution exon 1 VAR_002986 P68871:p.Lys83Met SP substitution exon 1 VAR_002987 P68871:p.Gly84Arg SP substitution exon 1 VAR_002988 P68871:p.Thr85Ile SP substitution exon 1 VAR_002989 P68871:p.Ala87Asp SP substitution exon 1 VAR_002990 P68871:p.Thr88Ile SP substitution exon 1 VAR_002991 P68871:p.Thr88Lys SP substitution exon 1 VAR_002992 P68871:p.Thr88Pro SP substitution exon 1 VAR_002993 P68871:p.Leu89Pro SP substitution exon 1 VAR_002994 P68871:p.Leu89Arg SP substitution exon 1 VAR_002995 P68871:p.Ser90Asn SP substitution exon 1 VAR_002996 P68871:p.Ser90Arg SP substitution exon 1 VAR_002997 P68871:p.Glu91Asp SP substitution exon 1 VAR_002998 P68871:p.Glu91Lys SP substitution exon 1 VAR_002999 P68871:p.Leu92Pro SP substitution exon 1 VAR_003000 P68871:p.Leu92Arg SP substitution exon 1 VAR_003001 P68871:p.His93Asp SP substitution exon 1 VAR_003002 P68871:p.His93Asn SP substitution exon 1 VAR_003003 P68871:p.His93Pro SP substitution exon 1 VAR_003004 P68871:p.His93Gln SP substitution exon 1 VAR_003005 P68871:p.Cys94Arg SP substitution exon 1 VAR_003006 P68871:p.Asp95Gly SP substitution exon 1 VAR_003007 P68871:p.Asp95His SP substitution exon 1 VAR_003008 P68871:p.Asp95Asn SP substitution exon 1 VAR_003009 P68871:p.Lys96Met SP substitution exon 1 VAR_003010 P68871:p.Lys96Asn SP substitution exon 1 VAR_003011 P68871:p.Leu97Pro SP substitution exon 1 VAR_003012 P68871:p.Leu97Val SP substitution exon 1 VAR_003013 P68871:p.His98Leu SP substitution exon 1 VAR_003014 P68871:p.His98Pro SP substitution exon 1 VAR_003015 P68871:p.His98Gln SP substitution exon 1 VAR_003016 P68871:p.His98Tyr SP substitution exon 1 VAR_003017 P68871:p.Val99Gly SP substitution exon 1 VAR_003018 P68871:p.Asp100Glu SP substitution exon 1 VAR_003019 P68871:p.Pro101Leu SP substitution exon 1 VAR_003020 P68871:p.Pro101Arg SP substitution exon 1 VAR_003021 P68871:p.Glu102Asp SP substitution exon 1 VAR_003022 P68871:p.Glu102Gly SP substitution exon 1 VAR_003023 P68871:p.Glu102Lys SP substitution exon 1 VAR_003024 P68871:p.Glu102Gln SP substitution exon 1 VAR_003025 P68871:p.Asn103Ser SP substitution exon 1 VAR_003026 P68871:p.Asn103Tyr SP substitution exon 1 VAR_003027 P68871:p.Phe104Leu SP substitution exon 1 VAR_003028 P68871:p.Arg105Ser SP substitution exon 1 VAR_003029 P68871:p.Arg105Thr SP substitution exon 1 VAR_003030 P68871:p.Gly108Arg SP substitution exon 1 VAR_003031 P68871:p.Asn109Lys SP substitution exon 1 VAR_003032 P68871:p.Val110Met SP substitution exon 1 VAR_003033 P68871:p.Leu111Pro SP substitution exon 1 VAR_003034 P68871:p.Val112Ala SP substitution exon 1 VAR_003035 P68871:p.Cys113Arg SP substitution exon 1 VAR_003036 P68871:p.Cys113Tyr SP substitution exon 1 VAR_003037 P68871:p.Ala116Asp SP substitution exon 1 VAR_003038 P68871:p.Ala116Pro SP substitution exon 1 VAR_003039 P68871:p.His117Gln SP substitution exon 1 VAR_003040 P68871:p.His118Pro SP substitution exon 1 VAR_003041 P68871:p.His118Arg SP substitution exon 1 VAR_003042 P68871:p.Gly120Ala SP substitution exon 1 VAR_003043 P68871:p.Lys121Glu SP substitution exon 1 VAR_003044 P68871:p.Lys121Ile SP substitution exon 1 VAR_003045 P68871:p.Lys121Gln SP substitution exon 1 VAR_003046 P68871:p.Glu122Ala SP substitution exon 1 VAR_003047 P68871:p.Glu122Gly SP substitution exon 1 VAR_003048 P68871:p.Glu122Gln SP substitution exon 1 VAR_003049 P68871:p.Glu122Lys SP substitution exon 1 VAR_003050 P68871:p.Glu122Val SP substitution exon 1 VAR_003051 P68871:p.Thr124Ile SP substitution exon 1 VAR_003052 P68871:p.Pro125Arg SP substitution exon 1 VAR_003053 P68871:p.Pro125Gln SP substitution exon 1 VAR_003054 P68871:p.Pro125Ser SP substitution exon 1 VAR_003055 P68871:p.Val127Ala SP substitution exon 1 VAR_003056 P68871:p.Val127Gly SP substitution exon 1 VAR_003057 P68871:p.Val127Glu SP substitution exon 1 VAR_003058 P68871:p.Gln128Glu SP substitution exon 1 VAR_003059 P68871:p.Gln128Lys SP substitution exon 1 VAR_003060 P68871:p.Ala129Asp SP substitution exon 1 VAR_003061 P68871:p.Ala130Pro SP substitution exon 1 VAR_003062 P68871:p.Ala130Val SP substitution exon 1 VAR_003063 P68871:p.Tyr131Asp SP substitution exon 1 VAR_003064 P68871:p.Tyr131Ser SP substitution exon 1 VAR_003065 P68871:p.Gln132Glu SP substitution exon 1 VAR_003066 P68871:p.Gln132Lys SP substitution exon 1 VAR_003067 P68871:p.Gln132Pro SP substitution exon 1 VAR_003068 P68871:p.Gln132Arg SP substitution exon 1 VAR_003069 P68871:p.Lys133Asn SP substitution exon 1 VAR_003070 P68871:p.Lys133Gln SP substitution exon 1 VAR_003071 P68871:p.Val134Leu SP substitution exon 1 VAR_003072 P68871:p.Val135Glu SP substitution exon 1 VAR_003073 P68871:p.Ala136Glu SP substitution exon 1 VAR_003074 P68871:p.Ala136Pro SP substitution exon 1 VAR_003075 P68871:p.Gly137Asp SP substitution exon 1 VAR_003076 P68871:p.Ala139Pro SP substitution exon 1 VAR_003077 P68871:p.Asn140Asp SP substitution exon 1 VAR_003078 P68871:p.Asn140Lys SP substitution exon 1 VAR_003079 P68871:p.Asn140Tyr SP substitution exon 1 VAR_003080 P68871:p.Ala141Asp SP substitution exon 1 VAR_003081 P68871:p.Ala141Thr SP substitution exon 1 VAR_003082 P68871:p.Ala141Val SP substitution exon 1 VAR_003083 P68871:p.Leu142Arg SP substitution exon 1 VAR_003084 P68871:p.Ala143Asp SP substitution exon 1 VAR_003085 P68871:p.His144Asp SP substitution exon 1 VAR_003086 P68871:p.His144Gln SP substitution exon 1 VAR_003087 P68871:p.His144Pro SP substitution exon 1 VAR_003088 P68871:p.His144Arg SP substitution exon 1 VAR_003089 P68871:p.Lys145Glu SP substitution exon 1 VAR_003090 P68871:p.Tyr146Cys SP substitution exon 1 VAR_003091 P68871:p.Tyr146His SP substitution exon 1 VAR_003092 P68871:p.His147Asp SP substitution exon 1 VAR_003093 P68871:p.His147Leu SP substitution exon 1 VAR_003094 P68871:p.His147Pro SP substitution exon 1 VAR_003095 P68871:p.His147Gln SP substitution exon 1 VAR_003096 P02042:p.Val2Ala SP substitution exon 1 VAR_003097 P02042:p.His3Arg SP substitution exon 1 VAR_003098 P02042:p.Asn13Lys SP substitution exon 1 VAR_003099 P02042:p.Gly17Arg SP substitution exon 1 VAR_003100 P02042:p.Val21Glu SP substitution exon 1 VAR_003101 P02042:p.Ala23Glu SP substitution exon 1 VAR_003102 P02042:p.Gly25Asp SP substitution exon 1 VAR_003103 P02042:p.Gly26Asp SP substitution exon 1 VAR_003104 P02042:p.Glu27Asp SP substitution exon 1 VAR_003105 P02042:p.Ala28Ser SP substitution exon 1 VAR_003106 P02042:p.Glu44Gly SP substitution exon 1 VAR_003107 P02042:p.Glu44Lys SP substitution exon 1 VAR_003108 P02042:p.Asp48Val SP substitution exon 1 VAR_003109 P02042:p.Pro52Arg SP substitution exon 1 VAR_003110 P02042:p.Gly70Arg SP substitution exon 1 VAR_003111 P02042:p.Leu76Val SP substitution exon 1 VAR_003112 P02042:p.Glu91Val SP substitution exon 1 VAR_003113 P02042:p.Val99Met SP substitution exon 1 VAR_003114 P02042:p.Asp100Asn SP substitution exon 1 VAR_003115 P02042:p.Arg117Cys SP substitution exon 1 VAR_003116 P02042:p.Arg117His SP substitution exon 1 VAR_003117 P02042:p.Asn118Asp SP substitution exon 1 VAR_003118 P02042:p.Glu122Val SP substitution exon 1 VAR_003119 P02042:p.Gln126Glu SP substitution exon 1 VAR_003120 P02042:p.Gly137Asp SP substitution exon 1 VAR_003121 P02042:p.Leu142Pro SP substitution exon 1 VAR_003122 P02042:p.Ala143Asp SP substitution exon 1 VAR_003123 P69892:p.Gly2Cys SP substitution exon 1 VAR_003124 P69891:p.His3Gln SP substitution exon 1 VAR_003125 P69891:p.Glu6Lys SP substitution exon 1 VAR_003126 P69892:p.Glu6Gly SP substitution exon 1 VAR_003127 P69891:p.Glu7Gly SP substitution exon 1 VAR_003128 P69891:p.Glu7Gln SP substitution exon 1 VAR_003129 P69892:p.Asp8Asn SP substitution exon 1 VAR_003130 P69891:p.Thr13Arg SP substitution exon 1 VAR_003131 P69892:p.Trp16Arg SP substitution exon 1 VAR_003132 P69892:p.Gly17Arg SP substitution exon 1 VAR_003133 P69892:p.Glu22Lys SP substitution exon 1 VAR_003134 P69892:p.Glu22Gln SP substitution exon 1 VAR_003135 P69891:p.Asp23Gly SP substitution exon 1 VAR_003136 P69892:p.Asp23Val SP substitution exon 1 VAR_003137 P69892:p.Gly26Glu SP substitution exon 1 VAR_003138 P69891:p.Gly26Arg SP substitution exon 1 VAR_003139 P69892:p.Glu27Lys SP substitution exon 1 VAR_003140 P69892:p.Val35Ile SP substitution exon 1 VAR_003141 P69891:p.Pro37Arg SP substitution exon 1 VAR_003142 P69891:p.Trp38Gly SP substitution exon 1 VAR_003143 P69891:p.Gln40Arg SP substitution exon 1 VAR_003144 P69892:p.Arg41Gly SP substitution exon 1 VAR_003145 P69891:p.Arg41Lys SP substitution exon 1 VAR_003146 P69892:p.Phe42Ser SP substitution exon 1 VAR_003147 P69891:p.Asp44Asn SP substitution exon 1 VAR_003148 P69892:p.Ser45Arg SP substitution exon 1 VAR_003149 P69891:p.Ala54Asp SP substitution exon 1 VAR_003150 P69892:p.Met56Arg SP substitution exon 1 VAR_003151 P69892:p.Lys60Glu SP substitution exon 1 VAR_003152 P69892:p.Lys60Gln SP substitution exon 1 VAR_003153 P69891:p.Lys62Glu SP substitution exon 1 VAR_003154 P69892:p.His64Tyr SP substitution exon 1 VAR_003155 P69892:p.Lys66Asn SP substitution exon 1 VAR_003156 P69892:p.Lys67Arg SP substitution exon 1 VAR_003157 P69892:p.Lys67Gln SP substitution exon 1 VAR_003158 P69891:p.Gly73Arg SP substitution exon 1 VAR_003159 P69891:p.Asp74Asn SP substitution exon 1 VAR_003160 P69891:p.Asp74His SP substitution exon 1 VAR_003161 P69891:p.Ile76Thr SP substitution exon 1 VAR_003162 P69892:p.His78Arg SP substitution exon 1 VAR_003163 P69891:p.Asp80Asn SP substitution exon 1 VAR_003164 P69891:p.Asp81Tyr SP substitution exon 1 VAR_003165 P69891:p.Asp81Asn SP substitution exon 1 VAR_003166 P69892:p.His93Tyr SP substitution exon 1 VAR_003167 P69892:p.Asp95Asn SP substitution exon 1 VAR_003168 P69891:p.His98Arg SP substitution exon 1 VAR_003169 P69892:p.Glu102Lys SP substitution exon 1 VAR_003170 P69892:p.Lys105Asn SP substitution exon 1 VAR_003171 P69892:p.His118Arg SP substitution exon 1 VAR_003172 P69892:p.Lys121Gln SP substitution exon 1 VAR_003173 P69891:p.Glu122Lys SP substitution exon 1 VAR_003174 P69892:p.Glu126Ala SP substitution exon 1 VAR_003175 P69891:p.Ala129Thr SP substitution exon 1 VAR_003176 P69892:p.Trp131Gly SP substitution exon 1 VAR_003177 P69891:p.Val135Met SP substitution exon 1 VAR_003179 P69892:p.His147Tyr SP substitution exon 1 VAR_003180 P02144:p.Glu55Lys SP substitution exon 1 VAR_003181 P02144:p.Lys134Asn SP substitution exon 1 VAR_003182 P02144:p.Arg140Gln SP substitution exon 1 VAR_003183 P02144:p.Arg140Trp SP substitution exon 1 VAR_003184 O43826:p.Gly149Glu SP substitution exon 1 VAR_003185 O43826:p.Gly339Cys SP substitution exon 1 VAR_003188 P01233:p.Asp137Ala SP substitution exon 1 VAR_003189 P01229:p.Gln74Arg SP substitution exon 1 VAR_003192 P06028:p.Thr48Met SP substitution exon 1 VAR_003193 P04921:p.Asn8Ser SP substitution exon 1 VAR_003194 P04921:p.Leu14Phe SP substitution exon 1 VAR_003195 P04921:p.Ala23Ser SP substitution exon 1 VAR_003196 P08236:p.Arg216Trp SP substitution exon 1 VAR_003197 P08236:p.Ala354Val SP substitution exon 1 VAR_003198 P08236:p.Arg382Cys SP substitution exon 1 VAR_003199 P08236:p.Arg611Trp SP substitution exon 1 VAR_003200 P08236:p.Ala619Val SP substitution exon 1 VAR_003201 P08236:p.Trp627Cys SP substitution exon 1 VAR_003202 P06865:p.Pro25Ser SP substitution exon 1 VAR_003203 P06865:p.Leu39Arg SP substitution exon 1 VAR_003204 P06865:p.Leu127Arg SP substitution exon 1 VAR_003205 P06865:p.Arg166Gly SP substitution exon 1 VAR_003206 P06865:p.Arg170Gln SP substitution exon 1 VAR_003207 P06865:p.Arg170Trp SP substitution exon 1 VAR_003208 P06865:p.Arg178Cys SP substitution exon 1 VAR_003209 P06865:p.Arg178His SP substitution exon 1 VAR_003210 P06865:p.Arg178Leu SP substitution exon 1 VAR_003211 P06865:p.Tyr180His SP substitution exon 1 VAR_003212 P06865:p.Val192Leu SP substitution exon 1 VAR_003213 P06865:p.Asn196Ser SP substitution exon 1 VAR_003214 P06865:p.Lys197Thr SP substitution exon 1 VAR_003215 P06865:p.Val200Met SP substitution exon 1 VAR_003216 P06865:p.His204Arg SP substitution exon 1 VAR_003217 P06865:p.Ser210Phe SP substitution exon 1 VAR_003218 P06865:p.Phe211Ser SP substitution exon 1 VAR_003219 P06865:p.Arg247Trp SP substitution exon 1 VAR_003220 P06865:p.Arg249Trp SP substitution exon 1 VAR_003221 P06865:p.Gly250Asp SP substitution exon 1 VAR_003222 P06865:p.Gly250Ser SP substitution exon 1 VAR_003223 P06865:p.Arg252His SP substitution exon 1 VAR_003224 P06865:p.Asp258His SP substitution exon 1 VAR_003225 P06865:p.Gly269Ser SP substitution exon 1 VAR_003226 P06865:p.Ser279Pro SP substitution exon 1 VAR_003227 P06865:p.Met301Arg SP substitution exon 1 VAR_003230 P06865:p.Ile335Phe SP substitution exon 1 VAR_003247 P07686:p.Ser62Leu SP substitution exon 1 VAR_003248 P07686:p.Lys121Arg SP substitution exon 1 VAR_003249 P07686:p.Ile207Val SP substitution exon 1 VAR_003250 P07686:p.Cys309Tyr SP substitution exon 1 VAR_003255 P04062:p.Val54Leu SP substitution exon 1 VAR_003256 P04062:p.Phe76Val SP substitution exon 1 VAR_003257 P04062:p.Thr82Ile SP substitution exon 1 VAR_003258 P04062:p.Gly85Glu SP substitution exon 1 VAR_003259 P04062:p.Arg87Trp SP substitution exon 1 VAR_003260 P04062:p.Lys118Asn SP substitution exon 1 VAR_003261 P04062:p.Gly152Glu SP substitution exon 1 VAR_003262 P04062:p.Ile158Thr SP substitution exon 1 VAR_003263 P04062:p.Arg159Gln SP substitution exon 1 VAR_003264 P04062:p.Arg159Trp SP substitution exon 1 VAR_003265 P04062:p.Pro161Ser SP substitution exon 1 VAR_003266 P04062:p.Thr173Pro SP substitution exon 1 VAR_003267 P04062:p.Asp179His SP substitution exon 1 VAR_003268 P04062:p.Lys196Gln SP substitution exon 1 VAR_003269 P04062:p.Arg209Pro SP substitution exon 1 VAR_003270 P04062:p.Ala215Asp SP substitution exon 1 VAR_003271 P04062:p.Pro217Ser SP substitution exon 1 VAR_003272 P04062:p.Pro221Thr SP substitution exon 1 VAR_003273 P04062:p.Trp223Arg SP substitution exon 1 VAR_003274 P04062:p.Asn227Ser SP substitution exon 1 VAR_003275 P04062:p.Asn227Lys SP substitution exon 1 VAR_003276 P04062:p.Val230Gly SP substitution exon 1 VAR_003277 P04062:p.Gly234Glu SP substitution exon 1 VAR_003278 P04062:p.Ser235Pro SP substitution exon 1 VAR_003279 P04062:p.Gly241Arg SP substitution exon 1 VAR_003280 P04062:p.Tyr251His SP substitution exon 1 VAR_003281 P04062:p.Phe252Ile SP substitution exon 1 VAR_003282 P04062:p.Phe255Tyr SP substitution exon 1 VAR_003283 P04062:p.Ser276Pro SP substitution exon 1 VAR_003284 P04062:p.Arg296Gln SP substitution exon 1 VAR_003285 P04062:p.Pro305Arg SP substitution exon 1 VAR_003286 P04062:p.Arg324Cys SP substitution exon 1 VAR_003287 P04062:p.Pro328Leu SP substitution exon 1 VAR_003288 P04062:p.Lys342Ile SP substitution exon 1 VAR_003289 P04062:p.Ala348Val SP substitution exon 1 VAR_003290 P04062:p.Trp351Cys SP substitution exon 1 VAR_003291 P04062:p.Tyr352His SP substitution exon 1 VAR_003292 P04062:p.Asp354His SP substitution exon 1 VAR_003293 P04062:p.Ala357Asp SP substitution exon 1 VAR_003294 P04062:p.Thr362Ile SP substitution exon 1 VAR_003295 P04062:p.Leu363Pro SP substitution exon 1 VAR_003296 P04062:p.Gly364Arg SP substitution exon 1 VAR_003297 P04062:p.Glu365Lys SP substitution exon 1 VAR_003298 P04062:p.Cys381Gly SP substitution exon 1 VAR_003299 P04062:p.Arg398Gln SP substitution exon 1 VAR_003300 P04062:p.Ser403Thr SP substitution exon 1 VAR_003301 P04062:p.Thr408Met SP substitution exon 1 VAR_003302 P04062:p.Asn409Ser SP substitution exon 1 VAR_003303 P04062:p.Gly416Ser SP substitution exon 1 VAR_003304 P04062:p.Trp417Gly SP substitution exon 1 VAR_003305 P04062:p.Asp419Ala SP substitution exon 1 VAR_003306 P04062:p.Asp419Asn SP substitution exon 1 VAR_003307 P04062:p.Gly428Glu SP substitution exon 1 VAR_003308 P04062:p.Pro430Leu SP substitution exon 1 VAR_003309 P04062:p.Asn431Ile SP substitution exon 1 VAR_003310 P04062:p.Val433Leu SP substitution exon 1 VAR_003311 P04062:p.Asn435Thr SP substitution exon 1 VAR_003312 P04062:p.Asp438Asn SP substitution exon 1 VAR_003313 P04062:p.Asp448His SP substitution exon 1 VAR_003314 P04062:p.Asp448Val SP substitution exon 1 VAR_003329 P16278:p.Arg49Cys SP substitution exon 1 VAR_003330 P16278:p.Ile51Thr SP substitution exon 1 VAR_003331 P16278:p.Gly123Arg SP substitution exon 1 VAR_003332 P16278:p.Arg201Cys SP substitution exon 1 VAR_003333 P16278:p.Trp273Leu SP substitution exon 1 VAR_003334 P16278:p.Tyr316Cys SP substitution exon 1 VAR_003335 P16278:p.Arg457Gln SP substitution exon 1 VAR_003336 P16278:p.Arg482His SP substitution exon 1 VAR_003337 P16278:p.Trp509Cys SP substitution exon 1 VAR_003338 O00754:p.His72Leu SP substitution exon 1 VAR_003339 O00754:p.Leu278Val SP substitution exon 1 VAR_003340 O00754:p.Thr312Ile SP substitution exon 1 VAR_003341 O00754:p.Arg337Gln SP substitution exon 1 VAR_003342 O00754:p.Thr355Pro SP substitution exon 1 VAR_003343 O00754:p.Pro356Arg SP substitution exon 1 VAR_003344 O00754:p.Glu402Lys SP substitution exon 1 VAR_003345 O00754:p.Asn413Ser SP substitution exon 1 VAR_003346 O00754:p.Trp714Arg SP substitution exon 1 VAR_003347 O00754:p.Arg750Trp SP substitution exon 1 VAR_003348 O00754:p.Leu809Pro SP substitution exon 1 VAR_003350 P35475:p.His33Gln SP substitution exon 1 VAR_003351 P35475:p.Gly51Asp SP substitution exon 1 VAR_003352 P35475:p.Ala75Thr SP substitution exon 1 VAR_003353 P35475:p.His82Pro SP substitution exon 1 VAR_003354 P35475:p.Arg89Gln SP substitution exon 1 VAR_003355 P35475:p.Arg89Trp SP substitution exon 1 VAR_003356 P35475:p.Arg105Gln SP substitution exon 1 VAR_003357 P35475:p.Gly116Arg SP substitution exon 1 VAR_003358 P35475:p.Leu218Pro SP substitution exon 1 VAR_003359 P35475:p.Val279Ala SP substitution exon 1 VAR_003360 P35475:p.Asp315Tyr SP substitution exon 1 VAR_003361 P35475:p.Ala327Pro SP substitution exon 1 VAR_003362 P35475:p.Asp349Asn SP substitution exon 1 VAR_003364 P35475:p.Ala361Thr SP substitution exon 1 VAR_003365 P35475:p.Thr366Pro SP substitution exon 1 VAR_003366 P35475:p.Gln380Arg SP substitution exon 1 VAR_003367 P35475:p.Arg383His SP substitution exon 1 VAR_003368 P35475:p.Thr388Arg SP substitution exon 1 VAR_003370 P35475:p.Gly409Arg SP substitution exon 1 VAR_003372 P35475:p.Val454Ile SP substitution exon 1 VAR_003373 P35475:p.Arg489Pro SP substitution exon 1 VAR_003374 P35475:p.Leu490Pro SP substitution exon 1 VAR_003375 P35475:p.Arg492Pro SP substitution exon 1 VAR_003376 P35475:p.Pro496Leu SP substitution exon 1 VAR_003377 P35475:p.Met504Thr SP substitution exon 1 VAR_003378 P35475:p.Pro533Arg SP substitution exon 1 VAR_003379 P35475:p.Trp626Arg SP substitution exon 1 VAR_003380 P54803:p.Gly111Asp SP substitution exon 1 VAR_003381 P54803:p.Gly111Ser SP substitution exon 1 VAR_003382 P54803:p.Thr112Ala SP substitution exon 1 VAR_003383 P54803:p.Met117Leu SP substitution exon 1 VAR_003384 P54803:p.Asp187Val SP substitution exon 1 VAR_003385 P54803:p.Gly194Ala SP substitution exon 1 VAR_003386 P54803:p.Asp248Asn SP substitution exon 1 VAR_003387 P54803:p.Ile250Thr SP substitution exon 1 VAR_003388 P54803:p.Ala263Thr SP substitution exon 1 VAR_003389 P54803:p.Gly284Ser SP substitution exon 1 VAR_003390 P54803:p.Gly286Asp SP substitution exon 1 VAR_003391 P54803:p.Asn295Thr SP substitution exon 1 VAR_003392 P54803:p.Ser303Phe SP substitution exon 1 VAR_003393 P54803:p.Pro318Ala SP substitution exon 1 VAR_003394 P54803:p.Arg396Trp SP substitution exon 1 VAR_003395 P54803:p.Pro400Leu SP substitution exon 1 VAR_003409 P16442:p.Pro156Leu SP substitution exon 1 VAR_003410 P16442:p.Arg176Gly SP substitution exon 1 VAR_003415 Q10469:p.His262Arg SP substitution exon 1 VAR_003416 Q10469:p.Ser290Phe SP substitution exon 1 VAR_003417 P19526:p.Tyr154Cys SP substitution exon 1 VAR_003418 P19526:p.Trp171Cys SP substitution exon 1 VAR_003419 P19526:p.Val259Glu SP substitution exon 1 VAR_003420 P19526:p.Ala315Val SP substitution exon 1 VAR_003421 P19526:p.Trp349Cys SP substitution exon 1 VAR_003422 Q10981:p.Ile25Val SP substitution exon 1 VAR_003423 Q10981:p.Arg138Cys SP substitution exon 1 VAR_003424 Q10981:p.Ile140Phe SP substitution exon 1 VAR_003425 Q10981:p.Asp172Asn SP substitution exon 1 VAR_003426 P21217:p.Leu20Arg SP substitution exon 1 VAR_003427 P21217:p.Thr105Met SP substitution exon 1 VAR_003428 P21217:p.Gly170Ser SP substitution exon 1 VAR_003429 P21217:p.Asp336Ala SP substitution exon 1 VAR_003430 P21217:p.Ile356Lys SP substitution exon 1 VAR_003431 P11217:p.Gly205Ser SP substitution exon 1 VAR_003432 P11217:p.Leu397Pro SP substitution exon 1 VAR_003433 P11217:p.Lys543Thr SP substitution exon 1 VAR_003434 P11217:p.Glu655Lys SP substitution exon 1 VAR_003435 Q02846:p.Ala52Ser SP substitution exon 1 VAR_003436 Q02846:p.Glu837Asp SP substitution exon 1 VAR_003437 Q02846:p.Arg838Cys SP substitution exon 1 VAR_003439 P63092:p.Leu99Pro SP substitution exon 1 VAR_003440 P63092:p.Arg165Cys SP substitution exon 1 VAR_003441 P63092:p.Arg201His SP substitution exon 1 VAR_003442 P63092:p.Arg201Cys SP substitution exon 1 VAR_003443 P63092:p.Gln227Arg SP substitution exon 1 VAR_003446 P08908:p.Pro16Leu SP substitution exon 1 VAR_003448 P28223:p.Thr25Asn SP substitution exon 1 VAR_003449 P28223:p.His452Tyr SP substitution exon 1 VAR_003450 P28335:p.Cys23Ser SP substitution exon 1 VAR_003452 P07550:p.Gly16Arg SP substitution exon 1 VAR_003453 P07550:p.Glu27Gln SP substitution exon 1 VAR_003454 P07550:p.Val34Met SP substitution exon 1 VAR_003455 P07550:p.Thr164Ile SP substitution exon 1 VAR_003456 P13945:p.Trp64Arg SP substitution exon 1 VAR_003457 P30411:p.Arg14Cys SP substitution exon 1 VAR_003458 P21918:p.Ala269Val SP substitution exon 1 VAR_003459 P21918:p.Pro330Gln SP substitution exon 1 VAR_003460 P21918:p.Asn351Asp SP substitution exon 1 VAR_003461 P21918:p.Ser453Cys SP substitution exon 1 VAR_003463 P35462:p.Ser9Gly SP substitution exon 1 VAR_003464 P21917:p.Val194Gly SP substitution exon 1 VAR_003467 P21917:p.Pro329Ala SP substitution exon 1 VAR_003468 P21917:p.Gly332Ser SP substitution exon 1 VAR_003469 P24530:p.Gly57Ser SP substitution exon 1 VAR_003470 P24530:p.Ala183Gly SP substitution exon 1 VAR_003471 P24530:p.Trp276Cys SP substitution exon 1 VAR_003472 P24530:p.Ser305Asn SP substitution exon 1 VAR_003473 P24530:p.Arg319Trp SP substitution exon 1 VAR_003474 P24530:p.Met374Ile SP substitution exon 1 VAR_003475 P24530:p.Pro383Leu SP substitution exon 1 VAR_003476 P21462:p.Val101Leu SP substitution exon 1 VAR_003477 P21462:p.Asn192Lys SP substitution exon 1 VAR_003478 P21462:p.Glu346Ala SP substitution exon 1 VAR_003479 P25024:p.Ser276Thr SP substitution exon 1 VAR_003480 Q16570:p.Gly42Asp SP substitution exon 1 VAR_003481 P51681:p.Tyr10Asp SP substitution exon 1 VAR_003482 P51681:p.Arg31His SP substitution exon 1 VAR_003483 P51681:p.Pro34Leu SP substitution exon 1 VAR_003484 P51681:p.Lys62Arg SP substitution exon 1 VAR_003485 P51681:p.Tyr68His SP substitution exon 1 VAR_003486 P51681:p.Asp95Asn SP substitution exon 1 VAR_003487 P51681:p.Gly97Glu SP substitution exon 1 VAR_003488 P51681:p.Leu122Pro SP substitution exon 1 VAR_003489 P51681:p.Phe158Ser SP substitution exon 1 VAR_003490 P51681:p.Tyr176Cys SP substitution exon 1 VAR_003491 P51681:p.Thr177Ala SP substitution exon 1 VAR_003492 P51681:p.Ser185Asn SP substitution exon 1 VAR_003493 P51681:p.Met210Val SP substitution exon 1 VAR_003494 P51681:p.Tyr214Cys SP substitution exon 1 VAR_003495 P51681:p.Thr239Ser SP substitution exon 1 VAR_003496 P51681:p.Leu246Pro SP substitution exon 1 VAR_003497 P51681:p.Thr288Met SP substitution exon 1 VAR_003498 P51681:p.Glu302Gly SP substitution exon 1 VAR_003499 P51681:p.Lys303Glu SP substitution exon 1 VAR_003500 P51681:p.Asn306Ser SP substitution exon 1 VAR_003501 P51681:p.Lys322Arg SP substitution exon 1 VAR_003502 P51681:p.Glu333Gly SP substitution exon 1 VAR_003503 P51681:p.Ala335Val SP substitution exon 1 VAR_003504 P51681:p.Tyr339Phe SP substitution exon 1 VAR_003505 P51681:p.Glu345Gly SP substitution exon 1 VAR_003506 O00574:p.Asp25Ala SP substitution exon 1 VAR_003507 Q01726:p.Asp84Glu SP substitution exon 1 VAR_003508 Q01726:p.Val92Met SP substitution exon 1 VAR_003509 Q01718:p.Pro27Arg SP substitution exon 1 VAR_003510 Q01718:p.Ser74Ile SP substitution exon 1 VAR_003511 Q01718:p.Ser120Arg SP substitution exon 1 VAR_003512 Q01718:p.Arg128Cys SP substitution exon 1 VAR_003513 Q01718:p.Arg146His SP substitution exon 1 VAR_003514 P47211:p.Trp15Cys SP substitution exon 1 VAR_003515 P21731:p.Arg60Leu SP substitution exon 1 VAR_003516 P30518:p.Thr7Ser SP substitution exon 1 VAR_003517 P30518:p.Leu44Pro SP substitution exon 1 VAR_003519 P30518:p.Arg64Trp SP substitution exon 1 VAR_003520 P30518:p.His80Arg SP substitution exon 1 VAR_003521 P30518:p.Val88Met SP substitution exon 1 VAR_003522 P30518:p.Arg106Cys SP substitution exon 1 VAR_003523 P30518:p.Cys112Arg SP substitution exon 1 VAR_003524 P30518:p.Arg113Trp SP substitution exon 1 VAR_003525 P30518:p.Ser126Phe SP substitution exon 1 VAR_003526 P30518:p.Tyr128Ser SP substitution exon 1 VAR_003527 P30518:p.Ala132Asp SP substitution exon 1 VAR_003528 P30518:p.Arg137His SP substitution exon 1 VAR_003529 P30518:p.Arg143Pro SP substitution exon 1 VAR_003530 P30518:p.Ala147Val SP substitution exon 1 VAR_003531 P30518:p.Trp164Ser SP substitution exon 1 VAR_003532 P30518:p.Ser167Leu SP substitution exon 1 VAR_003533 P30518:p.Ser167Thr SP substitution exon 1 VAR_003534 P30518:p.Arg181Cys SP substitution exon 1 VAR_003535 P30518:p.Gly185Cys SP substitution exon 1 VAR_003536 P30518:p.Arg202Cys SP substitution exon 1 VAR_003537 P30518:p.Arg203Cys SP substitution exon 1 VAR_003538 P30518:p.Tyr205Cys SP substitution exon 1 VAR_003541 P30518:p.Tyr280Cys SP substitution exon 1 VAR_003542 P30518:p.Ala285Pro SP substitution exon 1 VAR_003543 P30518:p.Pro286Leu SP substitution exon 1 VAR_003544 P30518:p.Pro286Arg SP substitution exon 1 VAR_003545 P30518:p.Leu292Pro SP substitution exon 1 VAR_003546 P30518:p.Leu309Pro SP substitution exon 1 VAR_003547 P30518:p.Asn317Lys SP substitution exon 1 VAR_003548 P30518:p.Trp323Ser SP substitution exon 1 VAR_003550 P22888:p.Asn284Ser SP substitution exon 1 VAR_003551 P22888:p.Ser306Asn SP substitution exon 1 VAR_003552 P22888:p.Glu354Lys SP substitution exon 1 VAR_003553 P22888:p.Ala373Val SP substitution exon 1 VAR_003554 P22888:p.Met398Thr SP substitution exon 1 VAR_003555 P22888:p.Ala568Val SP substitution exon 1 VAR_003556 P22888:p.Met571Ile SP substitution exon 1 VAR_003557 P22888:p.Ala572Val SP substitution exon 1 VAR_003558 P22888:p.Thr577Ile SP substitution exon 1 VAR_003559 P22888:p.Asp578Gly SP substitution exon 1 VAR_003560 P22888:p.Ala593Pro SP substitution exon 1 VAR_003562 P22888:p.Ser616Tyr SP substitution exon 1 VAR_003563 P22888:p.Ile625Lys SP substitution exon 1 VAR_003564 P16473:p.Asp36His SP substitution exon 1 VAR_003565 P16473:p.Pro52Thr SP substitution exon 1 VAR_003566 P16473:p.Lys183Arg SP substitution exon 1 VAR_003567 P16473:p.Phe197Ile SP substitution exon 1 VAR_003568 P16473:p.Asp219Glu SP substitution exon 1 VAR_003569 P16473:p.Ser281Ile SP substitution exon 1 VAR_003570 P16473:p.Ser281Asn SP substitution exon 1 VAR_003571 P16473:p.Ser505Asn SP substitution exon 1 VAR_003572 P16473:p.Arg528His SP substitution exon 1 VAR_003573 P16473:p.Asp619Gly SP substitution exon 1 VAR_003574 P16473:p.Ala623Ile SP substitution exon 1 VAR_003575 P16473:p.Leu629Phe SP substitution exon 1 VAR_003576 P16473:p.Asn715Asp SP substitution exon 1 VAR_003577 P16473:p.Lys723Met SP substitution exon 1 VAR_003578 P16473:p.Asp727Glu SP substitution exon 1 VAR_003579 P48146:p.Gln206Arg SP substitution exon 1 VAR_003581 P47871:p.Gly40Ser SP substitution exon 1 VAR_003582 Q03431:p.His223Arg SP substitution exon 1 VAR_003583 Q03431:p.Thr410Pro SP substitution exon 1 VAR_003584 Q14831:p.Tyr433Phe SP substitution exon 1 VAR_003585 P41180:p.Pro39Ala SP substitution exon 1 VAR_003586 P41180:p.Arg62Met SP substitution exon 1 VAR_003587 P41180:p.Arg66Cys SP substitution exon 1 VAR_003588 P41180:p.Ala116Thr SP substitution exon 1 VAR_003589 P41180:p.Glu127Ala SP substitution exon 1 VAR_003590 P41180:p.Thr138Met SP substitution exon 1 VAR_003591 P41180:p.Gly143Glu SP substitution exon 1 VAR_003592 P41180:p.Leu174Arg SP substitution exon 1 VAR_003593 P41180:p.Arg185Gln SP substitution exon 1 VAR_003594 P41180:p.Arg227Leu SP substitution exon 1 VAR_003595 P41180:p.Arg227Gln SP substitution exon 1 VAR_003596 P41180:p.Glu297Lys SP substitution exon 1 VAR_003597 P41180:p.Cys582Tyr SP substitution exon 1 VAR_003598 P41180:p.Gln681His SP substitution exon 1 VAR_003599 P41180:p.Arg795Trp SP substitution exon 1 VAR_003600 P41180:p.Phe806Ser SP substitution exon 1 VAR_003601 P41180:p.Cys851Ser SP substitution exon 1 VAR_003602 P48637:p.Ala26Asp SP substitution exon 1 VAR_003603 P48637:p.Leu188Pro SP substitution exon 1 VAR_003604 P48637:p.Asp219Ala SP substitution exon 1 VAR_003605 P48637:p.Asp219Gly SP substitution exon 1 VAR_003606 P48637:p.Leu254Arg SP substitution exon 1 VAR_003607 P48637:p.Arg267Trp SP substitution exon 1 VAR_003608 P48637:p.Tyr270Cys SP substitution exon 1 VAR_003609 P48637:p.Tyr270His SP substitution exon 1 VAR_003610 P48637:p.Arg283Cys SP substitution exon 1 VAR_003611 P48637:p.Leu286Gln SP substitution exon 1 VAR_003612 P48637:p.Arg330Cys SP substitution exon 1 VAR_003615 P18283:p.Ala37Leu SP substitution exon 1 VAR_003616 P18283:p.Ile176Met SP substitution exon 1 VAR_003617 P09488:p.Lys173Asn SP substitution exon 1 VAR_003618 P16403:p.Ala18Val SP substitution exon 1 VAR_003619 Q15465:p.Gly31Arg SP substitution exon 1 VAR_003620 Q15465:p.Trp117Gly SP substitution exon 1 VAR_003621 Q15465:p.Trp117Arg SP substitution exon 1 VAR_003622 P18074:p.Arg112His SP substitution exon 1 VAR_003623 P18074:p.Leu461Val SP substitution exon 1 VAR_003625 P18074:p.Ser541Arg SP substitution exon 1 VAR_003626 P18074:p.Arg616Pro SP substitution exon 1 VAR_003627 P18074:p.Gly602Asp SP substitution exon 1 VAR_003628 P18074:p.Gly675Arg SP substitution exon 1 VAR_003632 P19447:p.Phe99Ser SP substitution exon 1 VAR_003633 P13716:p.Lys59Asn SP substitution exon 1 VAR_003634 P13716:p.Gly133Arg SP substitution exon 1 VAR_003635 P13716:p.Arg240Trp SP substitution exon 1 VAR_003636 P13716:p.Ala274Thr SP substitution exon 1 VAR_003637 P13716:p.Val275Met SP substitution exon 1 VAR_003638 P08397:p.Arg22Cys SP substitution exon 1 VAR_003639 P08397:p.Arg26His SP substitution exon 1 VAR_003640 P08397:p.Ala31Thr SP substitution exon 1 VAR_003641 P08397:p.Gln34Lys SP substitution exon 1 VAR_003642 P08397:p.Ala55Ser SP substitution exon 1 VAR_003643 P08397:p.Val93Phe SP substitution exon 1 VAR_003644 P08397:p.Lys98Arg SP substitution exon 1 VAR_003645 P08397:p.Gly111Arg SP substitution exon 1 VAR_003646 P08397:p.Arg116Gln SP substitution exon 1 VAR_003647 P08397:p.Arg116Trp SP substitution exon 1 VAR_003648 P08397:p.Pro119Leu SP substitution exon 1 VAR_003649 P08397:p.Arg149Leu SP substitution exon 1 VAR_003650 P08397:p.Arg149Gln SP substitution exon 1 VAR_003651 P08397:p.Arg167Gln SP substitution exon 1 VAR_003652 P08397:p.Arg167Trp SP substitution exon 1 VAR_003653 P08397:p.Arg173Gln SP substitution exon 1 VAR_003654 P08397:p.Arg173Trp SP substitution exon 1 VAR_003655 P08397:p.Leu177Arg SP substitution exon 1 VAR_003656 P08397:p.Arg195Cys SP substitution exon 1 VAR_003657 P08397:p.Arg201Trp SP substitution exon 1 VAR_003658 P08397:p.Val222Met SP substitution exon 1 VAR_003659 P08397:p.Glu223Lys SP substitution exon 1 VAR_003660 P08397:p.Arg225Gly SP substitution exon 1 VAR_003661 P08397:p.Leu238Arg SP substitution exon 1 VAR_003662 P08397:p.Leu245Arg SP substitution exon 1 VAR_003663 P08397:p.Cys247Phe SP substitution exon 1 VAR_003664 P08397:p.Cys247Arg SP substitution exon 1 VAR_003665 P08397:p.Glu250Ala SP substitution exon 1 VAR_003666 P08397:p.Glu250Lys SP substitution exon 1 VAR_003667 P08397:p.Ala252Thr SP substitution exon 1 VAR_003668 P08397:p.Ala252Val SP substitution exon 1 VAR_003669 P08397:p.His256Asn SP substitution exon 1 VAR_003670 P08397:p.Thr269Ile SP substitution exon 1 VAR_003671 P08397:p.Gly274Arg SP substitution exon 1 VAR_003672 P08397:p.Leu278Pro SP substitution exon 1 VAR_003673 P08397:p.Gly280Arg SP substitution exon 1 VAR_003674 P10746:p.Leu4Phe SP substitution exon 1 VAR_003675 P10746:p.Tyr19Cys SP substitution exon 1 VAR_003676 P10746:p.Pro53Leu SP substitution exon 1 VAR_003677 P10746:p.Thr62Ala SP substitution exon 1 VAR_003678 P10746:p.Ala66Val SP substitution exon 1 VAR_003679 P10746:p.Cys73Arg SP substitution exon 1 VAR_003680 P10746:p.Val82Phe SP substitution exon 1 VAR_003681 P10746:p.Val99Ala SP substitution exon 1 VAR_003682 P10746:p.Ala104Val SP substitution exon 1 VAR_003683 P10746:p.Ser212Pro SP substitution exon 1 VAR_003684 P10746:p.Gly225Ser SP substitution exon 1 VAR_003685 P10746:p.Thr228Met SP substitution exon 1 VAR_003686 P50336:p.Arg59Trp SP substitution exon 1 VAR_003687 P50336:p.Arg152Cys SP substitution exon 1 VAR_003688 P50336:p.Arg168Cys SP substitution exon 1 VAR_003689 P50336:p.Gly232Arg SP substitution exon 1 VAR_003690 P50336:p.Arg304His SP substitution exon 1 VAR_003691 P52789:p.Gln142His SP substitution exon 1 VAR_003692 P35557:p.Asp4Asn SP substitution exon 1 VAR_003693 P35557:p.Glu70Lys SP substitution exon 1 VAR_003694 P35557:p.Gly80Ala SP substitution exon 1 VAR_003695 P35557:p.Gly80Ser SP substitution exon 1 VAR_003696 P35557:p.Met107Thr SP substitution exon 1 VAR_003697 P35557:p.Ser131Pro SP substitution exon 1 VAR_003698 P35557:p.Gly175Arg SP substitution exon 1 VAR_003699 P35557:p.Val182Met SP substitution exon 1 VAR_003700 P35557:p.Ala188Thr SP substitution exon 1 VAR_003701 P35557:p.Val203Ala SP substitution exon 1 VAR_003702 P35557:p.Glu221Lys SP substitution exon 1 VAR_003703 P35557:p.Val226Met SP substitution exon 1 VAR_003704 P35557:p.Gly227Cys SP substitution exon 1 VAR_003705 P35557:p.Thr228Met SP substitution exon 1 VAR_003706 P35557:p.Glu256Lys SP substitution exon 1 VAR_003707 P35557:p.Trp257Arg SP substitution exon 1 VAR_003708 P35557:p.Gly261Arg SP substitution exon 1 VAR_003709 P35557:p.Glu279Gln SP substitution exon 1 VAR_003710 P35557:p.Gly299Arg SP substitution exon 1 VAR_003711 P35557:p.Glu300Gln SP substitution exon 1 VAR_003712 P35557:p.Glu300Lys SP substitution exon 1 VAR_003713 P35557:p.Leu309Pro SP substitution exon 1 VAR_003714 P35557:p.Lys414Glu SP substitution exon 1 VAR_003715 P35557:p.Val455Met SP substitution exon 1 VAR_003716 P05204:p.Glu7Lys SP substitution exon 1 VAR_003717 Q05066:p.Ser18Asn SP substitution exon 1 VAR_003718 Q05066:p.Val60Ala SP substitution exon 1 VAR_003719 Q05066:p.Val60Leu SP substitution exon 1 VAR_003720 Q05066:p.Arg62Gly SP substitution exon 1 VAR_003721 Q05066:p.Met64Ile SP substitution exon 1 VAR_003722 Q05066:p.Ile68Thr SP substitution exon 1 VAR_003723 Q05066:p.Met78Thr SP substitution exon 1 VAR_003724 Q05066:p.Ile90Met SP substitution exon 1 VAR_003725 Q05066:p.Ser91Gly SP substitution exon 1 VAR_003726 Q05066:p.Gly95Arg SP substitution exon 1 VAR_003727 Q05066:p.Leu101His SP substitution exon 1 VAR_003728 Q05066:p.Lys106Ile SP substitution exon 1 VAR_003729 Q05066:p.Pro108Arg SP substitution exon 1 VAR_003730 Q05066:p.Phe109Ser SP substitution exon 1 VAR_003731 Q05066:p.Ala113Thr SP substitution exon 1 VAR_003732 Q05066:p.Pro125Leu SP substitution exon 1 VAR_003733 Q05066:p.Tyr127Cys SP substitution exon 1 VAR_003734 Q05066:p.Arg133Trp SP substitution exon 1 VAR_003735 P48436:p.Pro108Leu SP substitution exon 1 VAR_003736 P48436:p.Phe112Leu SP substitution exon 1 VAR_003737 P48436:p.Phe112Ser SP substitution exon 1 VAR_003738 P48436:p.Ala119Val SP substitution exon 1 VAR_003739 P48436:p.Trp143Arg SP substitution exon 1 VAR_003740 P48436:p.Arg152Pro SP substitution exon 1 VAR_003741 P48436:p.Pro170Arg SP substitution exon 1 VAR_003744 P35914:p.Arg41Gln SP substitution exon 1 VAR_003745 P35914:p.Asp42Glu SP substitution exon 1 VAR_003746 P35914:p.Asp42Gly SP substitution exon 1 VAR_003747 P35914:p.Asp42His SP substitution exon 1 VAR_003748 P35914:p.Val70Leu SP substitution exon 1 VAR_003750 O43186:p.Arg41Trp SP substitution exon 1 VAR_003751 O43186:p.Glu80Ala SP substitution exon 1 VAR_003752 P52952:p.Thr178Met SP substitution exon 1 VAR_003753 O15522:p.Asp16Ala SP substitution exon 1 VAR_003754 P28360:p.Arg196Pro SP substitution exon 1 VAR_003755 P35548:p.Pro148His SP substitution exon 1 VAR_003756 P20823:p.Tyr122Cys SP substitution exon 1 VAR_003757 P20823:p.Ser142Phe SP substitution exon 1 VAR_003758 P20823:p.Arg159Gln SP substitution exon 1 VAR_003759 P20823:p.Arg272His SP substitution exon 1 VAR_003760 P20823:p.Pro447Leu SP substitution exon 1 VAR_003762 Q99697:p.Arg130Trp SP substitution exon 1 VAR_003763 Q99697:p.Leu100Gln SP substitution exon 1 VAR_003764 Q99697:p.Thr114Pro SP substitution exon 1 VAR_003765 Q99697:p.Arg115His SP substitution exon 1 VAR_003766 Q99697:p.Arg137Pro SP substitution exon 1 VAR_003767 O75364:p.Ser13Asn SP substitution exon 1 VAR_003768 O75360:p.Arg73Cys SP substitution exon 1 VAR_003769 O75360:p.Phe117Ile SP substitution exon 1 VAR_003770 O75360:p.Arg120Cys SP substitution exon 1 VAR_003771 O95343:p.Leu226Val SP substitution exon 1 VAR_003772 O95343:p.Val250Ala SP substitution exon 1 VAR_003773 O95343:p.Arg257Pro SP substitution exon 1 VAR_003776 P28069:p.Gln4Arg SP substitution exon 1 VAR_003777 P28069:p.Pro24Leu SP substitution exon 1 VAR_003778 P28069:p.Arg143Gln SP substitution exon 1 VAR_003779 P28069:p.Ala158Pro SP substitution exon 1 VAR_003780 P28069:p.Asp227Tyr SP substitution exon 1 VAR_003781 P28069:p.Arg271Trp SP substitution exon 1 VAR_003782 P49335:p.Ala312Val SP substitution exon 1 VAR_003783 P49335:p.Leu317Trp SP substitution exon 1 VAR_003784 P49335:p.Arg323Gly SP substitution exon 1 VAR_003785 P49335:p.Arg330Ser SP substitution exon 1 VAR_003786 P49335:p.Lys334Glu SP substitution exon 1 VAR_003787 P15863:p.Gln139His SP substitution exon 1 VAR_003789 Q02962:p.Gly76Ser SP substitution exon 1 VAR_003790 P23760:p.Phe45Leu SP substitution exon 1 VAR_003791 P23760:p.Asn47His SP substitution exon 1 VAR_003792 P23760:p.Asn47Lys SP substitution exon 1 VAR_003793 P23760:p.Pro50Leu SP substitution exon 1 VAR_003794 P23760:p.Arg56Leu SP substitution exon 1 VAR_003795 P23760:p.Ile59Phe SP substitution exon 1 VAR_003796 P23760:p.Ile59Asn SP substitution exon 1 VAR_003797 P23760:p.Val60Met SP substitution exon 1 VAR_003798 P23760:p.Met62Val SP substitution exon 1 VAR_003800 P23760:p.Gly81Ala SP substitution exon 1 VAR_003801 P23760:p.Ser84Phe SP substitution exon 1 VAR_003802 P23760:p.Lys85Glu SP substitution exon 1 VAR_003803 P23760:p.Gly99Asp SP substitution exon 1 VAR_003804 P23760:p.Phe238Ser SP substitution exon 1 VAR_003805 P23760:p.Val265Phe SP substitution exon 1 VAR_003806 P23760:p.Arg271Gly SP substitution exon 1 VAR_003807 P23760:p.Thr315Lys SP substitution exon 1 VAR_003808 P26367:p.Asn17Ser SP substitution exon 1 VAR_003809 P26367:p.Gly18Trp SP substitution exon 1 VAR_003810 P26367:p.Arg26Gly SP substitution exon 1 VAR_003811 P26367:p.Ile29Val SP substitution exon 1 VAR_003812 P26367:p.Arg44Gln SP substitution exon 1 VAR_003813 P26367:p.Ile87Arg SP substitution exon 1 VAR_003814 P26367:p.Arg128Cys SP substitution exon 1 VAR_003815 P26367:p.Gln178His SP substitution exon 1 VAR_003816 P26367:p.Arg208Trp SP substitution exon 1 VAR_003819 P02489:p.Arg116Cys SP substitution exon 1 VAR_003821 P08833:p.Ile253Met SP substitution exon 1 VAR_003822 P35527:p.Asn161Lys SP substitution exon 1 VAR_003823 P35527:p.Arg163Gln SP substitution exon 1 VAR_003824 P35527:p.Arg163Trp SP substitution exon 1 VAR_003825 P35527:p.Leu168Ser SP substitution exon 1 VAR_003826 P13645:p.Asn154His SP substitution exon 1 VAR_003827 P13645:p.Arg156His SP substitution exon 1 VAR_003828 P13645:p.Arg156Cys SP substitution exon 1 VAR_003829 P13645:p.Arg156Pro SP substitution exon 1 VAR_003830 P13645:p.Arg156Ser SP substitution exon 1 VAR_003831 P13645:p.Tyr160Asp SP substitution exon 1 VAR_003832 P13645:p.Leu161Ser SP substitution exon 1 VAR_003833 P13645:p.Leu442Gln SP substitution exon 1 VAR_003834 Q99456:p.Arg135Thr SP substitution exon 1 VAR_003835 Q99456:p.Val143Leu SP substitution exon 1 VAR_003836 P13646:p.Leu119Pro SP substitution exon 1 VAR_003837 P02533:p.Arg125Cys SP substitution exon 1 VAR_003838 P02533:p.Arg125His SP substitution exon 1 VAR_003839 P02533:p.Glu144Ala SP substitution exon 1 VAR_003840 P02533:p.Val270Met SP substitution exon 1 VAR_003841 P02533:p.Met272Arg SP substitution exon 1 VAR_003843 P02533:p.Leu384Pro SP substitution exon 1 VAR_003844 P02533:p.Tyr415His SP substitution exon 1 VAR_003845 P02533:p.Leu419Gln SP substitution exon 1 VAR_003846 P08779:p.Leu132Pro SP substitution exon 1 VAR_003847 Q04695:p.Asn92Asp SP substitution exon 1 VAR_003848 Q04695:p.Asn92His SP substitution exon 1 VAR_003849 Q04695:p.Asn92Ser SP substitution exon 1 VAR_003850 Q04695:p.Arg94His SP substitution exon 1 VAR_003851 Q04695:p.Tyr98Asp SP substitution exon 1 VAR_003852 P05783:p.His128Leu SP substitution exon 1 VAR_003853 P04264:p.Val155Gly SP substitution exon 1 VAR_003854 P04264:p.Leu161Pro SP substitution exon 1 VAR_003855 P04264:p.Ser186Pro SP substitution exon 1 VAR_003856 P04264:p.Asn188Ser SP substitution exon 1 VAR_003857 P04264:p.Ser193Pro SP substitution exon 1 VAR_003858 P04264:p.Ile312Val SP substitution exon 1 VAR_003859 P04264:p.Ile330Thr SP substitution exon 1 VAR_003860 P04264:p.Tyr358Asn SP substitution exon 1 VAR_003861 P04264:p.Glu490Gln SP substitution exon 1 VAR_003862 P04264:p.Gly537Cys SP substitution exon 1 VAR_003863 P04264:p.Lys633Arg SP substitution exon 1 VAR_003865 P35908:p.Gln181Pro SP substitution exon 1 VAR_003866 P35908:p.Glu487Asp SP substitution exon 1 VAR_003867 P35908:p.Glu487Lys SP substitution exon 1 VAR_003868 P12035:p.Glu509Lys SP substitution exon 1 VAR_003871 P13647:p.Gly138Glu SP substitution exon 1 VAR_003872 P13647:p.Ile161Ser SP substitution exon 1 VAR_003873 P13647:p.Asn193Lys SP substitution exon 1 VAR_003874 P13647:p.Met327Thr SP substitution exon 1 VAR_003875 P13647:p.Arg331Cys SP substitution exon 1 VAR_003876 P13647:p.Leu463Pro SP substitution exon 1 VAR_003877 P13647:p.Glu475Gly SP substitution exon 1 VAR_003885 P01854:p.Trp359Leu SP substitution exon 1 VAR_003886 P01857:p.Lys97Arg SP substitution exon 1 VAR_003887 P01857:p.Asp239Glu SP substitution exon 1 VAR_003888 P01857:p.Leu241Met SP substitution exon 1 VAR_003905 P40198:p.Ser7Pro SP substitution exon 1 VAR_003906 P01730:p.Arg265Trp SP substitution exon 1 VAR_003907 Q13740:p.Asn258Ser SP substitution exon 1 VAR_003908 Q13740:p.Thr301Met SP substitution exon 1 VAR_003909 P43146:p.Met168Thr SP substitution exon 1 VAR_003910 P43146:p.Arg201Gly SP substitution exon 1 VAR_003912 Q14773:p.Gln100Arg SP substitution exon 1 VAR_003913 P20273:p.Gln152Glu SP substitution exon 1 VAR_003914 P20273:p.Ser664Gly SP substitution exon 1 VAR_003915 P20273:p.Arg669Cys SP substitution exon 1 VAR_003916 P20273:p.Gly745Asp SP substitution exon 1 VAR_003920 P01833:p.Ala580Val SP substitution exon 1 VAR_003921 P32004:p.Trp9Ser SP substitution exon 1 VAR_003922 P32004:p.Gly121Ser SP substitution exon 1 VAR_003923 P32004:p.Ile179Ser SP substitution exon 1 VAR_003924 P32004:p.Arg184Gln SP substitution exon 1 VAR_003925 P32004:p.Tyr194Cys SP substitution exon 1 VAR_003926 P32004:p.His210Gln SP substitution exon 1 VAR_003927 P32004:p.Ile219Thr SP substitution exon 1 VAR_003928 P32004:p.Pro240Leu SP substitution exon 1 VAR_003929 P32004:p.Cys264Tyr SP substitution exon 1 VAR_003930 P32004:p.Glu309Lys SP substitution exon 1 VAR_003931 P32004:p.Trp335Arg SP substitution exon 1 VAR_003932 P32004:p.Gly370Arg SP substitution exon 1 VAR_003933 P32004:p.Arg386Cys SP substitution exon 1 VAR_003935 P32004:p.Gly452Arg SP substitution exon 1 VAR_003936 P32004:p.Arg473Cys SP substitution exon 1 VAR_003937 P32004:p.Asp598Asn SP substitution exon 1 VAR_003938 P32004:p.Arg632Pro SP substitution exon 1 VAR_003939 P32004:p.Ala691Asp SP substitution exon 1 VAR_003940 P32004:p.Gly698Arg SP substitution exon 1 VAR_003941 P32004:p.Val768Phe SP substitution exon 1 VAR_003942 P32004:p.Tyr784Cys SP substitution exon 1 VAR_003943 P32004:p.Leu935Pro SP substitution exon 1 VAR_003945 P32004:p.Pro941Leu SP substitution exon 1 VAR_003946 P32004:p.Tyr1070Cys SP substitution exon 1 VAR_003947 P32004:p.Ser1194Leu SP substitution exon 1 VAR_003948 P32004:p.Ser1224Leu SP substitution exon 1 VAR_003952 P15151:p.Ala67Thr SP substitution exon 1 VAR_003955 P12318:p.His167Arg SP substitution exon 1 VAR_003956 O75015:p.Ser36Arg SP substitution exon 1 VAR_003957 O75015:p.Asn82Asp SP substitution exon 1 VAR_003960 P08637:p.Phe176Val SP substitution exon 1 VAR_003963 O75015:p.Ser65Asn SP substitution exon 1 VAR_003964 O75015:p.Ile106Val SP substitution exon 1 VAR_003969 P36959:p.Ala234Thr SP substitution exon 1 VAR_003970 P36959:p.Phe256Ile SP substitution exon 1 VAR_003971 P01308:p.His34Asp SP substitution exon 1 VAR_003972 P01308:p.Phe48Ser SP substitution exon 1 VAR_003973 P01308:p.Phe49Leu SP substitution exon 1 VAR_003974 P01308:p.Arg89His SP substitution exon 1 VAR_003975 P01308:p.Arg89Leu SP substitution exon 1 VAR_003976 P01308:p.Val92Leu SP substitution exon 1 VAR_003977 P17301:p.Lys534Glu SP substitution exon 1 VAR_003978 P13612:p.Arg878Gln SP substitution exon 1 VAR_003979 P08514:p.Gly273Asp SP substitution exon 1 VAR_003980 P08514:p.Arg358His SP substitution exon 1 VAR_003981 P08514:p.Gly449Asp SP substitution exon 1 VAR_003982 P08514:p.Gln778Pro SP substitution exon 1 VAR_003983 P08514:p.Ile874Ser SP substitution exon 1 VAR_003984 P05107:p.Asp128Asn SP substitution exon 1 VAR_003985 P05107:p.Leu149Pro SP substitution exon 1 VAR_003986 P05107:p.Gly169Arg SP substitution exon 1 VAR_003987 P05107:p.Pro178Leu SP substitution exon 1 VAR_003988 P05107:p.Lys196Thr SP substitution exon 1 VAR_003989 P05107:p.Gly284Ser SP substitution exon 1 VAR_003990 P05107:p.Asn351Ser SP substitution exon 1 VAR_003991 P05107:p.Arg586Trp SP substitution exon 1 VAR_003992 P05107:p.Arg593Cys SP substitution exon 1 VAR_003993 P05106:p.Leu59Pro SP substitution exon 1 VAR_003994 P05106:p.Arg169Gln SP substitution exon 1 VAR_003995 P05106:p.Pro433Ala SP substitution exon 1 VAR_003996 P05106:p.Arg515Gln SP substitution exon 1 VAR_003997 P05106:p.Arg662Cys SP substitution exon 1 VAR_003998 P05106:p.Asp145Tyr SP substitution exon 1 VAR_003999 P05106:p.Arg240Gln SP substitution exon 1 VAR_004000 P05106:p.Arg240Trp SP substitution exon 1 VAR_004001 P05106:p.His306Pro SP substitution exon 1 VAR_004002 P05106:p.Cys400Tyr SP substitution exon 1 VAR_004003 P05106:p.Cys586Phe SP substitution exon 1 VAR_004004 P05106:p.Gly598Ser SP substitution exon 1 VAR_004005 P05106:p.Ser778Pro SP substitution exon 1 VAR_004006 P16144:p.Cys61Tyr SP substitution exon 1 VAR_004007 P16144:p.Leu156Pro SP substitution exon 1 VAR_004008 P16144:p.Cys245Gly SP substitution exon 1 VAR_004009 P16144:p.Arg252Cys SP substitution exon 1 VAR_004010 P16144:p.Cys562Arg SP substitution exon 1 VAR_004011 P16144:p.Arg1281Trp SP substitution exon 1 VAR_004016 P01574:p.Cys162Tyr SP substitution exon 1 VAR_004017 P01579:p.Lys29Gln SP substitution exon 1 VAR_004018 P01579:p.Arg160Gln SP substitution exon 1 VAR_004019 P19827:p.Glu585Val SP substitution exon 1 VAR_004020 P19827:p.Gln595Arg SP substitution exon 1 VAR_004021 P00568:p.Arg128Trp SP substitution exon 1 VAR_004022 Q03426:p.His20Pro SP substitution exon 1 VAR_004023 Q03426:p.Pro167Leu SP substitution exon 1 VAR_004028 P30613:p.Met107Thr SP substitution exon 1 VAR_004030 P30613:p.Val134Asp SP substitution exon 1 VAR_004031 P30613:p.Leu155Pro SP substitution exon 1 VAR_004032 P30613:p.Glu172Gln SP substitution exon 1 VAR_004033 P30613:p.Arg163Cys SP substitution exon 1 VAR_004035 P30613:p.Gly275Arg SP substitution exon 1 VAR_004036 P30613:p.Asp281Asn SP substitution exon 1 VAR_004037 P30613:p.Phe287Val SP substitution exon 1 VAR_004038 P30613:p.Ile314Thr SP substitution exon 1 VAR_004039 P30613:p.Asp331Glu SP substitution exon 1 VAR_004040 P30613:p.Gly332Ser SP substitution exon 1 VAR_004041 P30613:p.Ala336Ser SP substitution exon 1 VAR_004042 P30613:p.Arg337Pro SP substitution exon 1 VAR_004043 P30613:p.Arg337Gln SP substitution exon 1 VAR_004044 P30613:p.Asp339His SP substitution exon 1 VAR_004045 P30613:p.Gly341Ala SP substitution exon 1 VAR_004047 P30613:p.Ile357Thr SP substitution exon 1 VAR_004048 P30613:p.Arg359Cys SP substitution exon 1 VAR_004049 P30613:p.Arg359His SP substitution exon 1 VAR_004050 P30613:p.Asn361Asp SP substitution exon 1 VAR_004051 P30613:p.Val368Phe SP substitution exon 1 VAR_004052 P30613:p.Thr384Met SP substitution exon 1 VAR_004053 P30613:p.Ala392Thr SP substitution exon 1 VAR_004054 P30613:p.Asn393Lys SP substitution exon 1 VAR_004055 P30613:p.Asn393Ser SP substitution exon 1 VAR_004057 P30613:p.Thr408Ile SP substitution exon 1 VAR_004058 P30613:p.Gln421Lys SP substitution exon 1 VAR_004059 P30613:p.Arg426Gln SP substitution exon 1 VAR_004060 P30613:p.Arg426Trp SP substitution exon 1 VAR_004061 P30613:p.Ala431Thr SP substitution exon 1 VAR_004062 P30613:p.Gly458Asp SP substitution exon 1 VAR_004063 P30613:p.Ala459Val SP substitution exon 1 VAR_004064 P30613:p.Val460Met SP substitution exon 1 VAR_004065 P30613:p.Ala468Val SP substitution exon 1 VAR_004066 P30613:p.Arg486Trp SP substitution exon 1 VAR_004067 P30613:p.Arg490Trp SP substitution exon 1 VAR_004068 P30613:p.Ala495Val SP substitution exon 1 VAR_004069 P30613:p.Arg498Cys SP substitution exon 1 VAR_004070 P30613:p.Arg498His SP substitution exon 1 VAR_004071 P30613:p.Arg510Gln SP substitution exon 1 VAR_004072 P30613:p.Arg532Gln SP substitution exon 1 VAR_004073 P30613:p.Arg532Trp SP substitution exon 1 VAR_004074 P30613:p.Val552Met SP substitution exon 1 VAR_004075 P30613:p.Arg559Gly SP substitution exon 1 VAR_004076 P30613:p.Asn566Lys SP substitution exon 1 VAR_004077 P04626:p.Ile654Val SP substitution exon 1 VAR_004078 P04626:p.Ile655Val SP substitution exon 1 VAR_004079 P06213:p.Asn42Lys SP substitution exon 1 VAR_004080 P06213:p.Val55Ala SP substitution exon 1 VAR_004081 P06213:p.Gly58Arg SP substitution exon 1 VAR_004082 P06213:p.Arg113Pro SP substitution exon 1 VAR_004083 P06213:p.Pro220Leu SP substitution exon 1 VAR_004084 P06213:p.His236Arg SP substitution exon 1 VAR_004085 P06213:p.Leu260Pro SP substitution exon 1 VAR_004086 P06213:p.Gly393Arg SP substitution exon 1 VAR_004087 P06213:p.Phe409Val SP substitution exon 1 VAR_004088 P06213:p.Lys487Glu SP substitution exon 1 VAR_004089 P06213:p.Asn489Ser SP substitution exon 1 VAR_004103 P04629:p.Gly577Arg SP substitution exon 1 VAR_004104 P10721:p.Glu583Lys SP substitution exon 1 VAR_004105 P10721:p.Phe584Leu SP substitution exon 1 VAR_004106 P10721:p.Gly664Arg SP substitution exon 1 VAR_004107 P10721:p.Arg791Gly SP substitution exon 1 VAR_004108 P10721:p.Gly812Val SP substitution exon 1 VAR_004109 P10721:p.Asp816Val SP substitution exon 1 VAR_004111 P11362:p.Pro252Arg SP substitution exon 1 VAR_004112 P21802:p.Tyr105Cys SP substitution exon 1 VAR_004113 P21802:p.Ser252Leu SP substitution exon 1 VAR_004114 P21802:p.Ser252Phe SP substitution exon 1 VAR_004115 P21802:p.Ser252Trp SP substitution exon 1 VAR_004117 P21802:p.Pro253Arg SP substitution exon 1 VAR_004118 P21802:p.Ser267Pro SP substitution exon 1 VAR_004120 P21802:p.Phe276Val SP substitution exon 1 VAR_004121 P21802:p.Cys278Phe SP substitution exon 1 VAR_004123 P21802:p.Gln289Pro SP substitution exon 1 VAR_004124 P21802:p.Trp290Cys SP substitution exon 1 VAR_004125 P21802:p.Trp290Arg SP substitution exon 1 VAR_004126 P21802:p.Lys292Glu SP substitution exon 1 VAR_004127 P21802:p.Tyr301Cys SP substitution exon 1 VAR_004128 P21802:p.Ala314Ser SP substitution exon 1 VAR_004129 P21802:p.Asp321Ala SP substitution exon 1 VAR_004130 P21802:p.Tyr328Cys SP substitution exon 1 VAR_004131 P21802:p.Asn331Ile SP substitution exon 1 VAR_004133 P21802:p.Gly338Glu SP substitution exon 1 VAR_004134 P21802:p.Tyr340His SP substitution exon 1 VAR_004135 P21802:p.Thr341Pro SP substitution exon 1 VAR_004136 P21802:p.Cys342Phe SP substitution exon 1 VAR_004137 P21802:p.Cys342Arg SP substitution exon 1 VAR_004138 P21802:p.Cys342Ser SP substitution exon 1 VAR_004139 P21802:p.Cys342Tyr SP substitution exon 1 VAR_004140 P21802:p.Ala344Gly SP substitution exon 1 VAR_004141 P21802:p.Ala344Pro SP substitution exon 1 VAR_004142 P21802:p.Ser347Cys SP substitution exon 1 VAR_004143 P21802:p.Ser351Cys SP substitution exon 1 VAR_004144 P21802:p.Ser354Cys SP substitution exon 1 VAR_004146 P21802:p.Val359Phe SP substitution exon 1 VAR_004147 P21802:p.Gly384Arg SP substitution exon 1 VAR_004148 P22607:p.Arg248Cys SP substitution exon 1 VAR_004149 P22607:p.Ser249Cys SP substitution exon 1 VAR_004150 P22607:p.Pro250Arg SP substitution exon 1 VAR_004151 P22607:p.Gly370Cys SP substitution exon 1 VAR_004152 P22607:p.Ser371Cys SP substitution exon 1 VAR_004153 P22607:p.Tyr373Cys SP substitution exon 1 VAR_004154 P22607:p.Gly375Cys SP substitution exon 1 VAR_004155 P22607:p.Gly380Arg SP substitution exon 1 VAR_004156 P22607:p.Ala391Glu SP substitution exon 1 VAR_004157 P22607:p.Ile538Val SP substitution exon 1 VAR_004158 P22607:p.Asn540Lys SP substitution exon 1 VAR_004159 P22607:p.Asn540Thr SP substitution exon 1 VAR_004160 P22607:p.Lys650Glu SP substitution exon 1 VAR_004161 P22607:p.Lys650Met SP substitution exon 1 VAR_004163 P60891:p.Asn114Ser SP substitution exon 1 VAR_004164 P60891:p.Asp183His SP substitution exon 1 VAR_004165 P24043:p.Leu545Gln SP substitution exon 1 VAR_004166 P24043:p.Arg619His SP substitution exon 1 VAR_004167 P24043:p.Arg919Leu SP substitution exon 1 VAR_004168 P24043:p.Tyr2586His SP substitution exon 1 VAR_004169 P24043:p.Glu2614Lys SP substitution exon 1 VAR_004170 Q13751:p.Glu210Lys SP substitution exon 1 VAR_004171 Q13751:p.Pro679Leu SP substitution exon 1 VAR_004172 P11597:p.Asp459Gly SP substitution exon 1 VAR_004173 P07195:p.Lys7Glu SP substitution exon 1 VAR_004174 P07195:p.Ala35Glu SP substitution exon 1 VAR_004175 P07195:p.Ser129Arg SP substitution exon 1 VAR_004176 P07195:p.Phe171Val SP substitution exon 1 VAR_004177 P07195:p.Arg172His SP substitution exon 1 VAR_004178 P07195:p.Met175Leu SP substitution exon 1 VAR_004179 P07195:p.Asp322Val SP substitution exon 1 VAR_004180 P00338:p.Lys222Glu SP substitution exon 1 VAR_004181 P00338:p.Arg315Cys SP substitution exon 1 VAR_004182 P11226:p.Gly54Asp SP substitution exon 1 VAR_004183 P11226:p.Gly57Glu SP substitution exon 1 VAR_004184 Q8IWL2:p.Asn9Thr SP substitution exon 1 VAR_004189 P05452:p.Ala55Ser SP substitution exon 1 VAR_004190 P05452:p.Val58Met SP substitution exon 1 VAR_004191 P16581:p.Ser149Arg SP substitution exon 1 VAR_004197 P41159:p.Val94Met SP substitution exon 1 VAR_004198 O60663:p.Cys95Phe SP substitution exon 1 VAR_004199 O60663:p.Cys142Trp SP substitution exon 1 VAR_004200 O60663:p.Arg200Gln SP substitution exon 1 VAR_004201 O60663:p.Ala213Pro SP substitution exon 1 VAR_004202 O60663:p.Ser218Pro SP substitution exon 1 VAR_004203 O60663:p.Arg226Pro SP substitution exon 1 VAR_004204 O60663:p.Ala230Val SP substitution exon 1 VAR_004205 O60663:p.Asn246Lys SP substitution exon 1 VAR_004206 P11150:p.Val95Met SP substitution exon 1 VAR_004208 P11150:p.Asn215Ser SP substitution exon 1 VAR_004209 P11150:p.Ser289Phe SP substitution exon 1 VAR_004210 P11150:p.Thr405Met SP substitution exon 1 VAR_004211 P06858:p.Arg102Ser SP substitution exon 1 VAR_004212 P06858:p.Trp113Gly SP substitution exon 1 VAR_004213 P06858:p.Trp113Arg SP substitution exon 1 VAR_004214 P06858:p.His163Arg SP substitution exon 1 VAR_004215 P06858:p.Gly169Glu SP substitution exon 1 VAR_004216 P06858:p.Gly181Ser SP substitution exon 1 VAR_004217 P06858:p.Asp183Gly SP substitution exon 1 VAR_004218 P06858:p.Asp183Asn SP substitution exon 1 VAR_004219 P06858:p.Pro184Arg SP substitution exon 1 VAR_004220 P06858:p.Ala185Thr SP substitution exon 1 VAR_004221 P06858:p.Ser199Cys SP substitution exon 1 VAR_004222 P06858:p.Ala203Thr SP substitution exon 1 VAR_004223 P06858:p.Asp207Glu SP substitution exon 1 VAR_004224 P06858:p.His210Gln SP substitution exon 1 VAR_004225 P06858:p.Gly215Glu SP substitution exon 1 VAR_004226 P06858:p.Ser220Arg SP substitution exon 1 VAR_004227 P06858:p.Ile221Thr SP substitution exon 1 VAR_004228 P06858:p.Gly222Glu SP substitution exon 1 VAR_004229 P06858:p.Asp231Glu SP substitution exon 1 VAR_004230 P06858:p.Ile232Ser SP substitution exon 1 VAR_004231 P06858:p.Pro234Leu SP substitution exon 1 VAR_004232 P06858:p.Cys243Ser SP substitution exon 1 VAR_004233 P06858:p.Arg270His SP substitution exon 1 VAR_004234 P06858:p.Ser271Thr SP substitution exon 1 VAR_004235 P06858:p.Asp277Asn SP substitution exon 1 VAR_004236 P06858:p.Ser278Cys SP substitution exon 1 VAR_004237 P06858:p.Ser286Gly SP substitution exon 1 VAR_004238 P06858:p.Ser286Arg SP substitution exon 1 VAR_004239 P06858:p.Asn318Ser SP substitution exon 1 VAR_004240 P06858:p.Met328Thr SP substitution exon 1 VAR_004241 P06858:p.Leu330Pro SP substitution exon 1 VAR_004242 P06858:p.Ala361Thr SP substitution exon 1 VAR_004243 P06858:p.Leu392Val SP substitution exon 1 VAR_004245 P06858:p.Glu437Lys SP substitution exon 1 VAR_004246 P06858:p.Glu437Val SP substitution exon 1 VAR_004247 P38571:p.Thr16Pro SP substitution exon 1 VAR_004248 P38571:p.His129Pro SP substitution exon 1 VAR_004249 P38571:p.His129Arg SP substitution exon 1 VAR_004250 P38571:p.Leu200Pro SP substitution exon 1 VAR_004252 P04180:p.Pro34Leu SP substitution exon 1 VAR_004253 P04180:p.Gly54Ser SP substitution exon 1 VAR_004254 P04180:p.Gly57Arg SP substitution exon 1 VAR_004255 P04180:p.Ala117Thr SP substitution exon 1 VAR_004256 P04180:p.Thr147Ile SP substitution exon 1 VAR_004257 P04180:p.Arg159Trp SP substitution exon 1 VAR_004258 P04180:p.Arg164His SP substitution exon 1 VAR_004259 P04180:p.Arg171Trp SP substitution exon 1 VAR_004260 P04180:p.Tyr180Asn SP substitution exon 1 VAR_004261 P04180:p.Arg182Cys SP substitution exon 1 VAR_004262 P04180:p.Leu233Pro SP substitution exon 1 VAR_004263 P04180:p.Asn252Lys SP substitution exon 1 VAR_004264 P04180:p.Met276Lys SP substitution exon 1 VAR_004265 P04180:p.Met317Ile SP substitution exon 1 VAR_004266 P04180:p.Thr345Met SP substitution exon 1 VAR_004267 P04180:p.Thr371Met SP substitution exon 1 VAR_004268 Q13093:p.Val279Phe SP substitution exon 1 VAR_004273 P41222:p.Arg56Gln SP substitution exon 1 VAR_004279 P18054:p.Ala298Thr SP substitution exon 1 VAR_004280 P61626:p.Ile74Thr SP substitution exon 1 VAR_004281 P61626:p.Asp85His SP substitution exon 1 VAR_004282 P28300:p.Arg158Gln SP substitution exon 1 VAR_004283 P43355:p.Thr32Ala SP substitution exon 1 VAR_004284 P43358:p.Ala173Thr SP substitution exon 1 VAR_004285 P10253:p.Asp91Asn SP substitution exon 1 VAR_004286 P10253:p.His199Arg SP substitution exon 1 VAR_004287 P10253:p.Arg223His SP substitution exon 1 VAR_004288 P10253:p.Leu299Arg SP substitution exon 1 VAR_004289 P10253:p.Met318Thr SP substitution exon 1 VAR_004290 P10253:p.Trp402Arg SP substitution exon 1 VAR_004291 P10253:p.Gly478Arg SP substitution exon 1 VAR_004292 P10253:p.Trp481Arg SP substitution exon 1 VAR_004293 P10253:p.Met519Thr SP substitution exon 1 VAR_004294 P10253:p.Met519Val SP substitution exon 1 VAR_004295 P10253:p.Glu521Lys SP substitution exon 1 VAR_004296 P10253:p.Ser529Val SP substitution exon 1 VAR_004297 P10253:p.Pro545Leu SP substitution exon 1 VAR_004298 P10253:p.Ser566Pro SP substitution exon 1 VAR_004299 P10253:p.Gly576Ala SP substitution exon 1 VAR_004300 P10253:p.Gly576Ser SP substitution exon 1 VAR_004301 P10253:p.Gly643Arg SP substitution exon 1 VAR_004302 P10253:p.Asp645Glu SP substitution exon 1 VAR_004303 P10253:p.Asp645His SP substitution exon 1 VAR_004304 P10253:p.Asp645Asn SP substitution exon 1 VAR_004305 P10253:p.Cys647Trp SP substitution exon 1 VAR_004306 P10253:p.Gly648Ser SP substitution exon 1 VAR_004307 P10253:p.Arg672Gln SP substitution exon 1 VAR_004308 P10253:p.Arg672Trp SP substitution exon 1 VAR_004309 P10253:p.Glu689Lys SP substitution exon 1 VAR_004310 P10253:p.Arg725Trp SP substitution exon 1 VAR_004311 P10253:p.Trp746Cys SP substitution exon 1 VAR_004312 P10253:p.Pro768Arg SP substitution exon 1 VAR_004313 P10253:p.Val780Ile SP substitution exon 1 VAR_004314 P10253:p.Val816Ile SP substitution exon 1 VAR_004317 P10253:p.Thr927Ile SP substitution exon 1 VAR_004318 P10253:p.Val949Asp SP substitution exon 1 VAR_004319 P42898:p.Arg52Gln SP substitution exon 1 VAR_004320 P42898:p.Arg157Gln SP substitution exon 1 VAR_004321 P42898:p.Thr227Met SP substitution exon 1 VAR_004322 P42898:p.Pro251Leu SP substitution exon 1 VAR_004323 P42898:p.Arg325Cys SP substitution exon 1 VAR_004324 P42898:p.Arg335Cys SP substitution exon 1 VAR_004325 P42898:p.Arg357Cys SP substitution exon 1 VAR_004326 Q99707:p.Arg61Lys SP substitution exon 1 VAR_004327 Q99707:p.Cys255Tyr SP substitution exon 1 VAR_004396 Q30201:p.His63Asp SP substitution exon 1 VAR_004397 Q30201:p.Ser65Cys SP substitution exon 1 VAR_004398 Q30201:p.Cys282Tyr SP substitution exon 1 VAR_004400 P29972:p.Ala45Val SP substitution exon 1 VAR_004401 P41181:p.Gly64Arg SP substitution exon 1 VAR_004402 P41181:p.Arg187Cys SP substitution exon 1 VAR_004403 P41181:p.Ser216Pro SP substitution exon 1 VAR_004404 P12955:p.Asp276Asn SP substitution exon 1 VAR_004405 P12955:p.Gly448Arg SP substitution exon 1 VAR_004407 P55916:p.Arg70Trp SP substitution exon 1 VAR_004408 P55916:p.Val102Ile SP substitution exon 1 VAR_004409 P22033:p.Arg93His SP substitution exon 1 VAR_004410 P22033:p.Trp105Arg SP substitution exon 1 VAR_004411 P22033:p.Ala191Glu SP substitution exon 1 VAR_004412 P22033:p.Arg228Gln SP substitution exon 1 VAR_004413 P22033:p.Tyr231Asn SP substitution exon 1 VAR_004414 P22033:p.Gly312Val SP substitution exon 1 VAR_004416 P22033:p.Val368Asp SP substitution exon 1 VAR_004417 P22033:p.Arg369His SP substitution exon 1 VAR_004418 P22033:p.Ala377Glu SP substitution exon 1 VAR_004419 P22033:p.Arg532His SP substitution exon 1 VAR_004420 P22033:p.Gly623Arg SP substitution exon 1 VAR_004421 P22033:p.Gly626Cys SP substitution exon 1 VAR_004422 P22033:p.Gly630Glu SP substitution exon 1 VAR_004423 P22033:p.Val633Gly SP substitution exon 1 VAR_004424 P22033:p.Gly648Asp SP substitution exon 1 VAR_004425 P22033:p.Val669Glu SP substitution exon 1 VAR_004426 P22033:p.Ile671Val SP substitution exon 1 VAR_004427 P22033:p.His678Arg SP substitution exon 1 VAR_004429 P22033:p.Leu685Arg SP substitution exon 1 VAR_004430 P22033:p.Arg694Trp SP substitution exon 1 VAR_004431 P22033:p.Gly703Arg SP substitution exon 1 VAR_004432 P22033:p.Gly717Val SP substitution exon 1 VAR_004433 P40692:p.Pro28Leu SP substitution exon 1 VAR_004434 P40692:p.Met35Arg SP substitution exon 1 VAR_004436 P40692:p.Ser44Phe SP substitution exon 1 VAR_004437 P40692:p.Gln62Lys SP substitution exon 1 VAR_004438 P40692:p.Asn64Ser SP substitution exon 1 VAR_004439 P40692:p.Gly67Arg SP substitution exon 1 VAR_004440 P40692:p.Ile68Asn SP substitution exon 1 VAR_004441 P40692:p.Arg69Lys SP substitution exon 1 VAR_004442 P40692:p.Cys77Arg SP substitution exon 1 VAR_004443 P40692:p.Ser93Gly SP substitution exon 1 VAR_004444 P40692:p.Ile107Arg SP substitution exon 1 VAR_004445 P40692:p.Thr117Met SP substitution exon 1 VAR_004446 P40692:p.Thr117Arg SP substitution exon 1 VAR_004447 P40692:p.Val185Gly SP substitution exon 1 VAR_004448 P40692:p.Ser193Pro SP substitution exon 1 VAR_004449 P40692:p.Arg217Cys SP substitution exon 1 VAR_004450 P40692:p.Ile219Val SP substitution exon 1 VAR_004451 P40692:p.Arg226Leu SP substitution exon 1 VAR_004453 P40692:p.Val326Ala SP substitution exon 1 VAR_004454 P40692:p.Val384Asp SP substitution exon 1 VAR_004455 P40692:p.Ala492Thr SP substitution exon 1 VAR_004456 P40692:p.Val506Ala SP substitution exon 1 VAR_004457 P40692:p.Gln542Leu SP substitution exon 1 VAR_004458 P40692:p.Leu574Pro SP substitution exon 1 VAR_004459 P40692:p.Glu578Gly SP substitution exon 1 VAR_004460 P40692:p.Leu582Val SP substitution exon 1 VAR_004462 P40692:p.Lys618Ala SP substitution exon 1 VAR_004463 P40692:p.Lys618Thr SP substitution exon 1 VAR_004465 P40692:p.Arg659Pro SP substitution exon 1 VAR_004466 P40692:p.Ala681Thr SP substitution exon 1 VAR_004469 P54278:p.Arg20Gln SP substitution exon 1 VAR_004470 P43246:p.His46Gln SP substitution exon 1 VAR_004471 P43246:p.Arg96His SP substitution exon 1 VAR_004472 P43246:p.Asn139Ser SP substitution exon 1 VAR_004473 P43246:p.Ile145Met SP substitution exon 1 VAR_004474 P43246:p.Asp167His SP substitution exon 1 VAR_004476 P43246:p.Ala305Thr SP substitution exon 1 VAR_004477 P43246:p.Gly322Asp SP substitution exon 1 VAR_004478 P43246:p.Leu390Phe SP substitution exon 1 VAR_004479 P43246:p.Arg524Pro SP substitution exon 1 VAR_004480 P43246:p.Glu562Val SP substitution exon 1 VAR_004482 P43246:p.Pro622Leu SP substitution exon 1 VAR_004483 P43246:p.His639Tyr SP substitution exon 1 VAR_004484 P43246:p.Cys641Gly SP substitution exon 1 VAR_004485 P43246:p.Gly674Ser SP substitution exon 1 VAR_004486 P43246:p.Cys697Phe SP substitution exon 1 VAR_004490 P52701:p.Gly39Glu SP substitution exon 1 VAR_004493 P23409:p.Ala90Asp SP substitution exon 1 VAR_004494 P23409:p.Ala112Ser SP substitution exon 1 VAR_004495 Q15672:p.Gln119Pro SP substitution exon 1 VAR_004496 Q15672:p.Leu131Pro SP substitution exon 1 VAR_004499 P50539:p.Glu152Ala SP substitution exon 1 VAR_004500 P25189:p.Ile30Met SP substitution exon 1 VAR_004501 P25189:p.Val32Phe SP substitution exon 1 VAR_004502 P25189:p.Thr34Ile SP substitution exon 1 VAR_004503 P25189:p.Ser44Phe SP substitution exon 1 VAR_004504 P25189:p.Ser54Cys SP substitution exon 1 VAR_004505 P25189:p.Ser54Pro SP substitution exon 1 VAR_004506 P25189:p.Val58Phe SP substitution exon 1 VAR_004508 P25189:p.Ser63Cys SP substitution exon 1 VAR_004509 P25189:p.Ser63Phe SP substitution exon 1 VAR_004511 P25189:p.Tyr68Cys SP substitution exon 1 VAR_004512 P25189:p.Ser78Leu SP substitution exon 1 VAR_004513 P25189:p.His81Arg SP substitution exon 1 VAR_004514 P25189:p.Tyr82Cys SP substitution exon 1 VAR_004515 P25189:p.Asp90Glu SP substitution exon 1 VAR_004516 P25189:p.Gly93Glu SP substitution exon 1 VAR_004517 P25189:p.Lys96Glu SP substitution exon 1 VAR_004518 P25189:p.Arg98Cys SP substitution exon 1 VAR_004519 P25189:p.Arg98His SP substitution exon 1 VAR_004520 P25189:p.Arg98Pro SP substitution exon 1 VAR_004521 P25189:p.Arg98Ser SP substitution exon 1 VAR_004522 P25189:p.Ile99Thr SP substitution exon 1 VAR_004523 P25189:p.Trp101Cys SP substitution exon 1 VAR_004524 P25189:p.Ile112Thr SP substitution exon 1 VAR_004525 P25189:p.Ile114Thr SP substitution exon 1 VAR_004526 P25189:p.Asn116His SP substitution exon 1 VAR_004528 P25189:p.Asn122Ser SP substitution exon 1 VAR_004529 P25189:p.Thr124Met SP substitution exon 1 VAR_004531 P25189:p.Cys127Tyr SP substitution exon 1 VAR_004532 P25189:p.Asp128Glu SP substitution exon 1 VAR_004533 P25189:p.Asp128Asn SP substitution exon 1 VAR_004534 P25189:p.Lys130Arg SP substitution exon 1 VAR_004535 P25189:p.Pro132Leu SP substitution exon 1 VAR_004536 P25189:p.Asp134Glu SP substitution exon 1 VAR_004537 P25189:p.Asp134Asn SP substitution exon 1 VAR_004538 P25189:p.Ile135Leu SP substitution exon 1 VAR_004539 P25189:p.Ile135Thr SP substitution exon 1 VAR_004540 P25189:p.Gly137Ser SP substitution exon 1 VAR_004541 P25189:p.Thr143Met SP substitution exon 1 VAR_004542 P25189:p.Gly163Arg SP substitution exon 1 VAR_004543 P25189:p.Gly167Ala SP substitution exon 1 VAR_004544 P25189:p.Gly167Arg SP substitution exon 1 VAR_004545 P25189:p.Arg244Leu SP substitution exon 1 VAR_004546 P60201:p.Pro15Leu SP substitution exon 1 VAR_004547 P60201:p.Thr43Ile SP substitution exon 1 VAR_004548 P60201:p.Gly74Arg SP substitution exon 1 VAR_004551 P60201:p.His140Tyr SP substitution exon 1 VAR_004552 P60201:p.Thr156Ile SP substitution exon 1 VAR_004553 P60201:p.Trp163Arg SP substitution exon 1 VAR_004566 P12883:p.Ala26Val SP substitution exon 1 VAR_004567 P12883:p.Val59Ile SP substitution exon 1 VAR_004568 P12883:p.Arg143Gln SP substitution exon 1 VAR_004569 P12883:p.Arg249Gln SP substitution exon 1 VAR_004570 P12883:p.Gly256Glu SP substitution exon 1 VAR_004571 P12883:p.Ile263Thr SP substitution exon 1 VAR_004572 P12883:p.Met349Thr SP substitution exon 1 VAR_004573 P12883:p.Arg403Leu SP substitution exon 1 VAR_004574 P12883:p.Arg403Gln SP substitution exon 1 VAR_004575 P12883:p.Arg403Trp SP substitution exon 1 VAR_004576 P12883:p.Arg453Cys SP substitution exon 1 VAR_004577 P12883:p.Phe513Cys SP substitution exon 1 VAR_004578 P12883:p.Gly584Arg SP substitution exon 1 VAR_004579 P12883:p.Asp587Val SP substitution exon 1 VAR_004580 P12883:p.Asn602Ser SP substitution exon 1 VAR_004581 P12883:p.Val606Met SP substitution exon 1 VAR_004582 P12883:p.Lys615Asn SP substitution exon 1 VAR_004583 P12883:p.Gly716Arg SP substitution exon 1 VAR_004584 P12883:p.Arg719Trp SP substitution exon 1 VAR_004585 P12883:p.Arg723Cys SP substitution exon 1 VAR_004586 P12883:p.Pro731Leu SP substitution exon 1 VAR_004587 P12883:p.Ile736Met SP substitution exon 1 VAR_004588 P12883:p.Gly741Arg SP substitution exon 1 VAR_004589 P12883:p.Gly741Trp SP substitution exon 1 VAR_004590 P12883:p.Asp778Gly SP substitution exon 1 VAR_004591 P12883:p.Ala797Thr SP substitution exon 1 VAR_004592 P12883:p.Arg870His SP substitution exon 1 VAR_004593 P12883:p.Leu908Val SP substitution exon 1 VAR_004594 P12883:p.Glu924Lys SP substitution exon 1 VAR_004595 P12883:p.Glu930Lys SP substitution exon 1 VAR_004597 P12883:p.Glu935Lys SP substitution exon 1 VAR_004598 P12883:p.Glu949Lys SP substitution exon 1 VAR_004599 P08590:p.Met149Val SP substitution exon 1 VAR_004600 P08590:p.Arg154His SP substitution exon 1 VAR_004601 P10916:p.Ala13Thr SP substitution exon 1 VAR_004602 P10916:p.Phe18Leu SP substitution exon 1 VAR_004603 P10916:p.Glu22Lys SP substitution exon 1 VAR_004604 P10916:p.Arg58Gln SP substitution exon 1 VAR_004605 P10916:p.Pro95Ala SP substitution exon 1 VAR_004606 P18440:p.Arg64Trp SP substitution exon 1 VAR_004607 P18440:p.Val149Ile SP substitution exon 1 VAR_004613 Q12908:p.Ser171Ala SP substitution exon 1 VAR_004614 Q12908:p.Leu243Pro SP substitution exon 1 VAR_004615 Q12908:p.Thr262Met SP substitution exon 1 VAR_004616 Q12908:p.Pro290Ser SP substitution exon 1 VAR_004619 P00387:p.Arg58Gln SP substitution exon 1 VAR_004620 P00387:p.Val106Met SP substitution exon 1 VAR_004621 P00387:p.Ser128Pro SP substitution exon 1 VAR_004622 P00387:p.Leu149Pro SP substitution exon 1 VAR_004624 P22570:p.Arg123Gln SP substitution exon 1 VAR_004625 P15531:p.Ser120Gly SP substitution exon 1 VAR_004626 P23560:p.Val66Met SP substitution exon 1 VAR_004629 P49279:p.Gln30Arg SP substitution exon 1 VAR_004630 P49279:p.Ala318Val SP substitution exon 1 VAR_004632 P10828:p.Ala234Thr SP substitution exon 1 VAR_004633 P10828:p.Arg243Trp SP substitution exon 1 VAR_004634 P10828:p.Arg316His SP substitution exon 1 VAR_004635 P10828:p.Ala317Thr SP substitution exon 1 VAR_004636 P10828:p.Arg320Cys SP substitution exon 1 VAR_004637 P10828:p.Arg320His SP substitution exon 1 VAR_004638 P10828:p.Gly332Arg SP substitution exon 1 VAR_004640 P10828:p.Arg338Trp SP substitution exon 1 VAR_004641 P10828:p.Gln340His SP substitution exon 1 VAR_004642 P10828:p.Lys342Ile SP substitution exon 1 VAR_004643 P10828:p.Gly345Val SP substitution exon 1 VAR_004644 P10828:p.Gly345Ser SP substitution exon 1 VAR_004645 P10828:p.Gly345Arg SP substitution exon 1 VAR_004646 P10828:p.Gly347Glu SP substitution exon 1 VAR_004647 P10828:p.Val348Glu SP substitution exon 1 VAR_004648 P10828:p.Thr426Ile SP substitution exon 1 VAR_004649 P10828:p.Arg438His SP substitution exon 1 VAR_004650 P10828:p.Met442Val SP substitution exon 1 VAR_004651 P10828:p.Lys443Glu SP substitution exon 1 VAR_004652 P10828:p.Cys446Arg SP substitution exon 1 VAR_004653 P10828:p.Pro453His SP substitution exon 1 VAR_004654 P10828:p.Pro453Ser SP substitution exon 1 VAR_004655 P10828:p.Pro453Thr SP substitution exon 1 VAR_004656 P11473:p.Gly33Asp SP substitution exon 1 VAR_004657 P11473:p.His35Gln SP substitution exon 1 VAR_004658 P11473:p.Lys45Glu SP substitution exon 1 VAR_004659 P11473:p.Gly46Asp SP substitution exon 1 VAR_004660 P11473:p.Phe47Ile SP substitution exon 1 VAR_004661 P11473:p.Arg50Gln SP substitution exon 1 VAR_004662 P11473:p.Arg73Gln SP substitution exon 1 VAR_004663 P11473:p.Arg80Gln SP substitution exon 1 VAR_004664 P11473:p.Arg274Leu SP substitution exon 1 VAR_004665 P11473:p.His305Gln SP substitution exon 1 VAR_004666 P11473:p.Ile314Ser SP substitution exon 1 VAR_004667 P11473:p.Arg391Cys SP substitution exon 1 VAR_004668 P41235:p.Arg136Trp SP substitution exon 1 VAR_004669 P41235:p.Thr139Ile SP substitution exon 1 VAR_004670 P41235:p.Val402Ile SP substitution exon 1 VAR_004671 P03372:p.Gly160Cys SP substitution exon 1 VAR_004672 P03372:p.Val364Glu SP substitution exon 1 VAR_004673 P03372:p.Gly400Val SP substitution exon 1 VAR_004675 P04150:p.Asn363Ser SP substitution exon 1 VAR_004737 Q13285:p.Gly35Glu SP substitution exon 1 VAR_004738 P51843:p.Arg267Pro SP substitution exon 1 VAR_004740 P51843:p.Val287Gly SP substitution exon 1 VAR_004741 P51843:p.Ala300Val SP substitution exon 1 VAR_004742 P51843:p.Glu377Lys SP substitution exon 1 VAR_004743 P51843:p.Lys382Asn SP substitution exon 1 VAR_004744 P51843:p.Val385Gly SP substitution exon 1 VAR_004745 P51843:p.Arg425Gly SP substitution exon 1 VAR_004746 P51843:p.Asn440Ile SP substitution exon 1 VAR_004765 P08100:p.Thr4Lys SP substitution exon 1 VAR_004766 P08100:p.Asn15Ser SP substitution exon 1 VAR_004767 P08100:p.Thr17Met SP substitution exon 1 VAR_004768 P08100:p.Pro23His SP substitution exon 1 VAR_004769 P08100:p.Pro23Leu SP substitution exon 1 VAR_004770 P08100:p.Gln28His SP substitution exon 1 VAR_004771 P08100:p.Leu40Arg SP substitution exon 1 VAR_004772 P08100:p.Met44Thr SP substitution exon 1 VAR_004773 P08100:p.Phe45Leu SP substitution exon 1 VAR_004774 P08100:p.Leu46Arg SP substitution exon 1 VAR_004775 P08100:p.Gly51Ala SP substitution exon 1 VAR_004776 P08100:p.Gly51Arg SP substitution exon 1 VAR_004777 P08100:p.Gly51Val SP substitution exon 1 VAR_004778 P08100:p.Pro53Arg SP substitution exon 1 VAR_004779 P08100:p.Thr58Arg SP substitution exon 1 VAR_004781 P08100:p.Val87Asp SP substitution exon 1 VAR_004782 P08100:p.Gly89Asp SP substitution exon 1 VAR_004783 P08100:p.Gly90Asp SP substitution exon 1 VAR_004784 P08100:p.Thr94Ile SP substitution exon 1 VAR_004785 P08100:p.Val104Ile SP substitution exon 1 VAR_004786 P08100:p.Gly106Arg SP substitution exon 1 VAR_004787 P08100:p.Gly106Trp SP substitution exon 1 VAR_004788 P08100:p.Gly109Arg SP substitution exon 1 VAR_004789 P08100:p.Cys110Phe SP substitution exon 1 VAR_004790 P08100:p.Cys110Tyr SP substitution exon 1 VAR_004791 P08100:p.Gly114Asp SP substitution exon 1 VAR_004792 P08100:p.Leu125Arg SP substitution exon 1 VAR_004793 P08100:p.Ser127Phe SP substitution exon 1 VAR_004794 P08100:p.Leu131Pro SP substitution exon 1 VAR_004795 P08100:p.Arg135Gly SP substitution exon 1 VAR_004796 P08100:p.Arg135Leu SP substitution exon 1 VAR_004797 P08100:p.Arg135Trp SP substitution exon 1 VAR_004798 P08100:p.Cys140Ser SP substitution exon 1 VAR_004799 P08100:p.Glu150Lys SP substitution exon 1 VAR_004800 P08100:p.Ala164Glu SP substitution exon 1 VAR_004801 P08100:p.Ala164Val SP substitution exon 1 VAR_004802 P08100:p.Cys167Arg SP substitution exon 1 VAR_004803 P08100:p.Pro171Leu SP substitution exon 1 VAR_004804 P08100:p.Pro171Gln SP substitution exon 1 VAR_004805 P08100:p.Pro171Ser SP substitution exon 1 VAR_004806 P08100:p.Tyr178Cys SP substitution exon 1 VAR_004807 P08100:p.Tyr178Asn SP substitution exon 1 VAR_004808 P08100:p.Glu181Lys SP substitution exon 1 VAR_004809 P08100:p.Gly182Ser SP substitution exon 1 VAR_004810 P08100:p.Ser186Pro SP substitution exon 1 VAR_004811 P08100:p.Gly188Glu SP substitution exon 1 VAR_004812 P08100:p.Gly188Arg SP substitution exon 1 VAR_004813 P08100:p.Asp190Asn SP substitution exon 1 VAR_004814 P08100:p.Asp190Gly SP substitution exon 1 VAR_004815 P08100:p.Asp190Tyr SP substitution exon 1 VAR_004816 P08100:p.Met207Arg SP substitution exon 1 VAR_004817 P08100:p.Val209Met SP substitution exon 1 VAR_004818 P08100:p.His211Pro SP substitution exon 1 VAR_004819 P08100:p.His211Arg SP substitution exon 1 VAR_004820 P08100:p.Met216Lys SP substitution exon 1 VAR_004821 P08100:p.Phe220Cys SP substitution exon 1 VAR_004822 P08100:p.Cys222Arg SP substitution exon 1 VAR_004825 P08100:p.Pro267Leu SP substitution exon 1 VAR_004826 P08100:p.Pro267Arg SP substitution exon 1 VAR_004827 P08100:p.Ala292Glu SP substitution exon 1 VAR_004828 P08100:p.Lys296Glu SP substitution exon 1 VAR_004829 P08100:p.Ser297Arg SP substitution exon 1 VAR_004830 P08100:p.Thr342Met SP substitution exon 1 VAR_004831 P08100:p.Val345Leu SP substitution exon 1 VAR_004832 P08100:p.Val345Met SP substitution exon 1 VAR_004833 P08100:p.Pro347Ala SP substitution exon 1 VAR_004834 P08100:p.Pro347Leu SP substitution exon 1 VAR_004835 P08100:p.Pro347Gln SP substitution exon 1 VAR_004836 P08100:p.Pro347Arg SP substitution exon 1 VAR_004837 P08100:p.Pro347Ser SP substitution exon 1 VAR_004838 P03999:p.Gly79Arg SP substitution exon 1 VAR_004839 P03999:p.Ser214Pro SP substitution exon 1 VAR_004840 P03999:p.Pro264Ser SP substitution exon 1 VAR_004841 P04001:p.Cys203Arg SP substitution exon 1 VAR_004842 P04000:p.Ser180Ala SP substitution exon 1 VAR_004843 P00480:p.Arg26Gln SP substitution exon 1 VAR_004844 P00480:p.Gly39Cys SP substitution exon 1 VAR_004845 P00480:p.Arg40Cys SP substitution exon 1 VAR_004846 P00480:p.Arg40His SP substitution exon 1 VAR_004847 P00480:p.Leu43Phe SP substitution exon 1 VAR_004848 P00480:p.Thr44Ile SP substitution exon 1 VAR_004849 P00480:p.Leu45Pro SP substitution exon 1 VAR_004850 P00480:p.Leu45Val SP substitution exon 1 VAR_004851 P00480:p.Lys46Arg SP substitution exon 1 VAR_004852 P00480:p.Asn47Ile SP substitution exon 1 VAR_004853 P00480:p.Gly50Arg SP substitution exon 1 VAR_004854 P00480:p.Tyr55Asp SP substitution exon 1 VAR_004855 P00480:p.Met56Thr SP substitution exon 1 VAR_004856 P00480:p.Ser60Leu SP substitution exon 1 VAR_004857 P00480:p.Leu63Pro SP substitution exon 1 VAR_004858 P00480:p.Gly79Glu SP substitution exon 1 VAR_004860 P00480:p.Gly83Asp SP substitution exon 1 VAR_004861 P00480:p.Gly83Arg SP substitution exon 1 VAR_004862 P00480:p.Glu87Lys SP substitution exon 1 VAR_004863 P00480:p.Lys88Asn SP substitution exon 1 VAR_004864 P00480:p.Ser90Arg SP substitution exon 1 VAR_004865 P00480:p.Arg92Gln SP substitution exon 1 VAR_004866 P00480:p.Thr93Ala SP substitution exon 1 VAR_004867 P00480:p.Arg94Thr SP substitution exon 1 VAR_004868 P00480:p.Gly100Asp SP substitution exon 1 VAR_004869 P00480:p.Phe101Leu SP substitution exon 1 VAR_004870 P00480:p.Ala102Glu SP substitution exon 1 VAR_004871 P00480:p.Leu111Pro SP substitution exon 1 VAR_004872 P00480:p.His117Leu SP substitution exon 1 VAR_004873 P00480:p.His117Arg SP substitution exon 1 VAR_004874 P00480:p.Thr125Met SP substitution exon 1 VAR_004875 P00480:p.Asp126Gly SP substitution exon 1 VAR_004876 P00480:p.Arg129His SP substitution exon 1 VAR_004877 P00480:p.Leu139Ser SP substitution exon 1 VAR_004878 P00480:p.Arg141Pro SP substitution exon 1 VAR_004879 P00480:p.Arg141Gln SP substitution exon 1 VAR_004880 P00480:p.Leu148Phe SP substitution exon 1 VAR_004881 P00480:p.Ile159Thr SP substitution exon 1 VAR_004882 P00480:p.Asn161Ser SP substitution exon 1 VAR_004883 P00480:p.Gly162Arg SP substitution exon 1 VAR_004884 P00480:p.His168Gln SP substitution exon 1 VAR_004885 P00480:p.His168Arg SP substitution exon 1 VAR_004886 P00480:p.Ile172Met SP substitution exon 1 VAR_004887 P00480:p.Ala174Pro SP substitution exon 1 VAR_004888 P00480:p.Asp175Val SP substitution exon 1 VAR_004889 P00480:p.Tyr176Cys SP substitution exon 1 VAR_004890 P00480:p.Thr178Met SP substitution exon 1 VAR_004892 P00480:p.Gln180His SP substitution exon 1 VAR_004893 P00480:p.Glu181Gly SP substitution exon 1 VAR_004894 P00480:p.His182Leu SP substitution exon 1 VAR_004895 P00480:p.Tyr183Cys SP substitution exon 1 VAR_004896 P00480:p.Tyr183Asp SP substitution exon 1 VAR_004897 P00480:p.Gly188Arg SP substitution exon 1 VAR_004898 P00480:p.Ser192Arg SP substitution exon 1 VAR_004899 P00480:p.Gly195Arg SP substitution exon 1 VAR_004900 P00480:p.Asp196Val SP substitution exon 1 VAR_004901 P00480:p.Asp196Tyr SP substitution exon 1 VAR_004902 P00480:p.Gly197Glu SP substitution exon 1 VAR_004903 P00480:p.Leu201Pro SP substitution exon 1 VAR_004904 P00480:p.His202Tyr SP substitution exon 1 VAR_004905 P00480:p.Ser203Cys SP substitution exon 1 VAR_004906 P00480:p.Met206Arg SP substitution exon 1 VAR_004907 P00480:p.Ser207Arg SP substitution exon 1 VAR_004908 P00480:p.Ala208Thr SP substitution exon 1 VAR_004909 P00480:p.Ala209Val SP substitution exon 1 VAR_004910 P00480:p.Met213Lys SP substitution exon 1 VAR_004911 P00480:p.Gln216Glu SP substitution exon 1 VAR_004912 P00480:p.Pro220Ala SP substitution exon 1 VAR_004913 P00480:p.Pro225Leu SP substitution exon 1 VAR_004914 P00480:p.Pro225Arg SP substitution exon 1 VAR_004915 P00480:p.Pro225Thr SP substitution exon 1 VAR_004916 P00480:p.Thr242Ile SP substitution exon 1 VAR_004917 P00480:p.Leu244Gln SP substitution exon 1 VAR_004918 P00480:p.Thr247Lys SP substitution exon 1 VAR_004919 P00480:p.His255Pro SP substitution exon 1 VAR_004920 P00480:p.Asp263Gly SP substitution exon 1 VAR_004921 P00480:p.Asp263Asn SP substitution exon 1 VAR_004922 P00480:p.Thr264Ala SP substitution exon 1 VAR_004923 P00480:p.Thr264Ile SP substitution exon 1 VAR_004924 P00480:p.Ser267Arg SP substitution exon 1 VAR_004925 P00480:p.Met268Thr SP substitution exon 1 VAR_004926 P00480:p.Gly269Glu SP substitution exon 1 VAR_004927 P00480:p.Gln270Arg SP substitution exon 1 VAR_004929 P00480:p.Arg277Gln SP substitution exon 1 VAR_004930 P00480:p.Arg277Trp SP substitution exon 1 VAR_004931 P00480:p.His302Leu SP substitution exon 1 VAR_004932 P00480:p.His302Gln SP substitution exon 1 VAR_004933 P00480:p.His302Tyr SP substitution exon 1 VAR_004934 P00480:p.Cys303Arg SP substitution exon 1 VAR_004935 P00480:p.Cys303Tyr SP substitution exon 1 VAR_004936 P00480:p.Leu304Phe SP substitution exon 1 VAR_004938 P00480:p.Arg320Leu SP substitution exon 1 VAR_004939 P00480:p.Arg330Gly SP substitution exon 1 VAR_004940 P00480:p.Ala336Ser SP substitution exon 1 VAR_004941 P00480:p.Val337Leu SP substitution exon 1 VAR_004942 P00480:p.Val339Leu SP substitution exon 1 VAR_004943 P00480:p.Ser340Pro SP substitution exon 1 VAR_004944 P00480:p.Thr343Lys SP substitution exon 1 VAR_004946 P00480:p.Tyr345Cys SP substitution exon 1 VAR_004947 P00480:p.Tyr345Asp SP substitution exon 1 VAR_004948 P00480:p.Phe354Cys SP substitution exon 1 VAR_004949 P08559:p.Arg72Cys SP substitution exon 1 VAR_004950 P08559:p.His113Asp SP substitution exon 1 VAR_004951 P08559:p.Gly162Arg SP substitution exon 1 VAR_004952 P08559:p.Val167Met SP substitution exon 1 VAR_004953 P08559:p.Ala199Thr SP substitution exon 1 VAR_004954 P08559:p.Phe205Leu SP substitution exon 1 VAR_004955 P08559:p.Met210Val SP substitution exon 1 VAR_004956 P08559:p.Pro217Leu SP substitution exon 1 VAR_004957 P08559:p.Thr231Ala SP substitution exon 1 VAR_004958 P08559:p.Asp258Ala SP substitution exon 1 VAR_004959 P08559:p.Arg263Gly SP substitution exon 1 VAR_004960 P08559:p.Arg263Gln SP substitution exon 1 VAR_004961 P08559:p.His292Leu SP substitution exon 1 VAR_004962 P08559:p.Arg302Cys SP substitution exon 1 VAR_004963 P08559:p.Arg302His SP substitution exon 1 VAR_004966 P08559:p.Arg378His SP substitution exon 1 VAR_004967 P11177:p.Leu31Val SP substitution exon 1 VAR_004968 P12694:p.Arg159Trp SP substitution exon 1 VAR_004969 P12694:p.Gln190Lys SP substitution exon 1 VAR_004974 P21953:p.His206Arg SP substitution exon 1 VAR_004976 P36957:p.Pro213Ala SP substitution exon 1 VAR_004978 P11182:p.Phe276Cys SP substitution exon 1 VAR_004979 P23378:p.Ser564Ile SP substitution exon 1 VAR_004980 P01185:p.Ser17Phe SP substitution exon 1 VAR_004981 P01185:p.Ala19Thr SP substitution exon 1 VAR_004982 P01185:p.Ala19Val SP substitution exon 1 VAR_004983 P01185:p.Gly45Arg SP substitution exon 1 VAR_004984 P01185:p.Gly48Val SP substitution exon 1 VAR_004985 P01185:p.Arg51Cys SP substitution exon 1 VAR_004986 P01185:p.Pro55Leu SP substitution exon 1 VAR_004988 P01185:p.Glu78Gly SP substitution exon 1 VAR_004989 P01185:p.Leu81Pro SP substitution exon 1 VAR_004990 P01185:p.Gly88Arg SP substitution exon 1 VAR_004991 P01185:p.Gly88Ser SP substitution exon 1 VAR_004992 P01185:p.Cys92Ser SP substitution exon 1 VAR_004993 P01185:p.Gly93Trp SP substitution exon 1 VAR_004994 P01185:p.Gly96Cys SP substitution exon 1 VAR_004995 P45381:p.Ile143Thr SP substitution exon 1 VAR_004996 P45381:p.Cys152Arg SP substitution exon 1 VAR_004998 P45381:p.Gly274Arg SP substitution exon 1 VAR_004999 P45381:p.Glu285Ala SP substitution exon 1 VAR_005000 P45381:p.Phe295Ser SP substitution exon 1 VAR_005001 P45381:p.Ala305Glu SP substitution exon 1 VAR_005002 O00116:p.Arg419His SP substitution exon 1 VAR_005003 P42127:p.Gln61Pro SP substitution exon 1 VAR_005004 O43918:p.Leu28Pro SP substitution exon 1 VAR_005005 O43918:p.Lys83Glu SP substitution exon 1 VAR_005006 O43918:p.Ser278Arg SP substitution exon 1 VAR_005007 P54802:p.Tyr92His SP substitution exon 1 VAR_005008 P54802:p.Pro115Ser SP substitution exon 1 VAR_005009 P54802:p.Tyr140Cys SP substitution exon 1 VAR_005010 P54802:p.Glu153Lys SP substitution exon 1 VAR_005011 P54802:p.Pro358Leu SP substitution exon 1 VAR_005012 P54802:p.Arg643His SP substitution exon 1 VAR_005013 P54802:p.Ala664Val SP substitution exon 1 VAR_005014 P54802:p.Arg674His SP substitution exon 1 VAR_005015 P54802:p.Leu682Arg SP substitution exon 1 VAR_005032 P25054:p.Ser171Ile SP substitution exon 1 VAR_005033 P25054:p.Arg414Cys SP substitution exon 1 VAR_005034 P25054:p.Ser784Thr SP substitution exon 1 VAR_005035 P25054:p.Gly817Cys SP substitution exon 1 VAR_005036 P25054:p.Ile880Thr SP substitution exon 1 VAR_005037 P25054:p.Ser906Tyr SP substitution exon 1 VAR_005038 P25054:p.Glu911Gly SP substitution exon 1 VAR_005039 P25054:p.Asn942Asp SP substitution exon 1 VAR_005040 P25054:p.Tyr1027Cys SP substitution exon 1 VAR_005041 P25054:p.Asn1118Asp SP substitution exon 1 VAR_005042 P25054:p.Gly1120Glu SP substitution exon 1 VAR_005043 P25054:p.Arg1171His SP substitution exon 1 VAR_005044 P25054:p.Pro1176Leu SP substitution exon 1 VAR_005045 P25054:p.Phe1197Ser SP substitution exon 1 VAR_005046 P25054:p.Ile1259Thr SP substitution exon 1 VAR_005047 P25054:p.Thr1292Met SP substitution exon 1 VAR_005048 P25054:p.Ile1304Val SP substitution exon 1 VAR_005049 P25054:p.Ile1307Lys SP substitution exon 1 VAR_005050 P25054:p.Gly1312Glu SP substitution exon 1 VAR_005051 P25054:p.Thr1313Ala SP substitution exon 1 VAR_005052 P25054:p.Val1326Ala SP substitution exon 1 VAR_005053 P25054:p.Arg1348Trp SP substitution exon 1 VAR_005054 P25054:p.Asp1422His SP substitution exon 1 VAR_005069 P20933:p.Gly60Asp SP substitution exon 1 VAR_005070 P20933:p.Ser72Pro SP substitution exon 1 VAR_005071 P20933:p.Ala101Val SP substitution exon 1 VAR_005072 P20933:p.Arg161Gln SP substitution exon 1 VAR_005073 P20933:p.Cys163Ser SP substitution exon 1 VAR_005074 P20933:p.Gly302Arg SP substitution exon 1 VAR_005075 P20933:p.Cys306Arg SP substitution exon 1 VAR_005076 Q15582:p.Arg124Cys SP substitution exon 1 VAR_005077 Q15582:p.Arg124His SP substitution exon 1 VAR_005078 Q15582:p.Arg124Leu SP substitution exon 1 VAR_005079 Q15582:p.Pro501Thr SP substitution exon 1 VAR_005084 P50747:p.Leu237Pro SP substitution exon 1 VAR_005085 P51587:p.Phe32Leu SP substitution exon 1 VAR_005086 P51587:p.Lys53Arg SP substitution exon 1 VAR_005087 P51587:p.Ala75Pro SP substitution exon 1 VAR_005088 P51587:p.Phe81Leu SP substitution exon 1 VAR_005089 P51587:p.Pro201Arg SP substitution exon 1 VAR_005090 P51587:p.Val211Ala SP substitution exon 1 VAR_005091 P51587:p.Pro222Ser SP substitution exon 1 VAR_005092 P51587:p.Asn289His SP substitution exon 1 VAR_005093 P51587:p.Val355Leu SP substitution exon 1 VAR_005094 P51587:p.His372Asn SP substitution exon 1 VAR_005095 P51587:p.Cys554Trp SP substitution exon 1 VAR_005096 P51587:p.Thr630Ile SP substitution exon 1 VAR_005097 P51587:p.Asp728Ala SP substitution exon 1 VAR_005098 P51587:p.Asn991Asp SP substitution exon 1 VAR_005099 P51587:p.Asn1147Ser SP substitution exon 1 VAR_005101 P51587:p.Gly1529Arg SP substitution exon 1 VAR_005102 P51587:p.Asn1880Lys SP substitution exon 1 VAR_005103 P51587:p.Thr1915Met SP substitution exon 1 VAR_005104 P51587:p.Arg2034Cys SP substitution exon 1 VAR_005105 P51587:p.Gly2274Val SP substitution exon 1 VAR_005106 P51587:p.His2415Asn SP substitution exon 1 VAR_005107 P51587:p.Gln2421His SP substitution exon 1 VAR_005108 P51587:p.Asp3095Glu SP substitution exon 1 VAR_005109 P51587:p.Ile3103Met SP substitution exon 1 VAR_005110 P51587:p.Met3118Thr SP substitution exon 1 VAR_005111 P51587:p.Thr3357Arg SP substitution exon 1 VAR_005112 P51587:p.Ile3412Val SP substitution exon 1 VAR_005113 P43251:p.Phe128Val SP substitution exon 1 VAR_005114 P43251:p.Ala171Thr SP substitution exon 1 VAR_005115 P43251:p.Asp228Tyr SP substitution exon 1 VAR_005116 P43251:p.His323Arg SP substitution exon 1 VAR_005117 P43251:p.Asp444His SP substitution exon 1 VAR_005118 P43251:p.Gly451Asp SP substitution exon 1 VAR_005119 P43251:p.Gln456His SP substitution exon 1 VAR_005122 P13498:p.Tyr72His SP substitution exon 1 VAR_005123 P13498:p.Arg90Gln SP substitution exon 1 VAR_005124 P13498:p.His94Arg SP substitution exon 1 VAR_005125 P13498:p.Ser118Arg SP substitution exon 1 VAR_005128 P33076:p.Gly500Ala SP substitution exon 1 VAR_005131 Q13286:p.Leu101Pro SP substitution exon 1 VAR_005132 Q13286:p.Leu170Pro SP substitution exon 1 VAR_005137 O75503:p.Asp230Asn SP substitution exon 1 VAR_005138 O75503:p.Lys319Arg SP substitution exon 1 VAR_005139 P21964:p.Val158Met SP substitution exon 1 VAR_005140 P12271:p.Arg151Gln SP substitution exon 1 VAR_005141 P23508:p.Arg267Leu SP substitution exon 1 VAR_005142 P23508:p.Pro486Leu SP substitution exon 1 VAR_005143 P23508:p.Ser490Leu SP substitution exon 1 VAR_005144 P23508:p.Arg506Gln SP substitution exon 1 VAR_005145 P23508:p.Ala698Val SP substitution exon 1 VAR_005147 P11532:p.Leu54Arg SP substitution exon 1 VAR_005148 P11532:p.Gln133Pro SP substitution exon 1 VAR_005149 P11532:p.Ala168Asp SP substitution exon 1 VAR_005150 P11532:p.Tyr231Asn SP substitution exon 1 VAR_005151 P11532:p.Gln365His SP substitution exon 1 VAR_005153 P11532:p.Leu623Ile SP substitution exon 1 VAR_005154 P11532:p.Lys773Glu SP substitution exon 1 VAR_005155 P11532:p.Ala784Gly SP substitution exon 1 VAR_005156 P11532:p.Asp882Gly SP substitution exon 1 VAR_005157 P11532:p.Val1197Phe SP substitution exon 1 VAR_005158 P11532:p.Thr1245Ile SP substitution exon 1 VAR_005159 P11532:p.Ala1278Pro SP substitution exon 1 VAR_005160 P11532:p.Lys1377Asn SP substitution exon 1 VAR_005161 P11532:p.Gln1469Leu SP substitution exon 1 VAR_005162 P11532:p.Arg1745His SP substitution exon 1 VAR_005163 P11532:p.Arg1844Ser SP substitution exon 1 VAR_005164 P11532:p.Arg2155Trp SP substitution exon 1 VAR_005165 P11532:p.Arg2191Trp SP substitution exon 1 VAR_005173 Q12882:p.Cys29Arg SP substitution exon 1 VAR_005174 Q12882:p.Arg235Trp SP substitution exon 1 VAR_005175 Q12882:p.Ser534Asn SP substitution exon 1 VAR_005176 Q12882:p.Ile543Val SP substitution exon 1 VAR_005177 Q12882:p.Arg886His SP substitution exon 1 VAR_005178 Q12882:p.Val995Phe SP substitution exon 1 VAR_005179 Q92838:p.Tyr61His SP substitution exon 1 VAR_005180 Q92838:p.Glu63Lys SP substitution exon 1 VAR_005181 Q92838:p.Arg69Leu SP substitution exon 1 VAR_005182 Q92838:p.Arg155Cys SP substitution exon 1 VAR_005183 Q92838:p.Arg156Cys SP substitution exon 1 VAR_005184 Q92838:p.Arg156His SP substitution exon 1 VAR_005185 Q92838:p.Pro209Leu SP substitution exon 1 VAR_005186 Q92838:p.Gly224Ala SP substitution exon 1 VAR_005187 Q92838:p.His252Leu SP substitution exon 1 VAR_005188 Q92838:p.Gly299Ser SP substitution exon 1 VAR_005189 Q92838:p.Ala349Thr SP substitution exon 1 VAR_005190 Q92838:p.Ala356Asp SP substitution exon 1 VAR_005191 Q92838:p.Arg357Pro SP substitution exon 1 VAR_005192 P17813:p.Thr5Met SP substitution exon 1 VAR_005193 P17813:p.Gly52Val SP substitution exon 1 VAR_005194 P17813:p.Cys53Arg SP substitution exon 1 VAR_005195 P17813:p.Trp149Cys SP substitution exon 1 VAR_005197 P17813:p.Leu306Pro SP substitution exon 1 VAR_005198 P50402:p.Ser54Phe SP substitution exon 1 VAR_005199 P50402:p.Pro183His SP substitution exon 1 VAR_005200 P50402:p.Pro183Thr SP substitution exon 1 VAR_005202 P10768:p.Gly190Glu SP substitution exon 1 VAR_005203 Q99502:p.Ser487Pro SP substitution exon 1 VAR_005204 Q99502:p.Leu505Arg SP substitution exon 1 VAR_005205 P16930:p.Asn16Ile SP substitution exon 1 VAR_005206 P16930:p.Phe62Cys SP substitution exon 1 VAR_005207 P16930:p.Gln64His SP substitution exon 1 VAR_005208 P16930:p.Ala134Asp SP substitution exon 1 VAR_005209 P16930:p.Gly158Asp SP substitution exon 1 VAR_005210 P16930:p.Val166Gly SP substitution exon 1 VAR_005211 P16930:p.Cys193Arg SP substitution exon 1 VAR_005212 P16930:p.Gly207Asp SP substitution exon 1 VAR_005213 P16930:p.Asp233Val SP substitution exon 1 VAR_005214 P16930:p.Trp234Gly SP substitution exon 1 VAR_005215 P16930:p.Pro249Thr SP substitution exon 1 VAR_005216 P16930:p.Pro261Leu SP substitution exon 1 VAR_005217 P16930:p.Thr294Pro SP substitution exon 1 VAR_005218 P16930:p.Gly337Ser SP substitution exon 1 VAR_005219 P16930:p.Arg341Trp SP substitution exon 1 VAR_005220 P16930:p.Pro342Leu SP substitution exon 1 VAR_005225 Q00597:p.Ser26Phe SP substitution exon 1 VAR_005226 Q00597:p.Gly139Glu SP substitution exon 1 VAR_005227 Q00597:p.Leu190Phe SP substitution exon 1 VAR_005228 Q00597:p.Asp195Val SP substitution exon 1 VAR_005229 Q00597:p.Ile312Val SP substitution exon 1 VAR_005230 Q00597:p.Val449Met SP substitution exon 1 VAR_005231 Q00597:p.Gln465Arg SP substitution exon 1 VAR_005234 Q06787:p.Ile304Asn SP substitution exon 1 VAR_005235 Q06787:p.Arg546His SP substitution exon 1 VAR_005237 P35575:p.Asp38Val SP substitution exon 1 VAR_005238 P35575:p.Trp77Arg SP substitution exon 1 VAR_005239 P35575:p.Arg83Cys SP substitution exon 1 VAR_005240 P35575:p.Arg83His SP substitution exon 1 VAR_005241 P35575:p.Arg83Ile SP substitution exon 1 VAR_005242 P35575:p.Glu110Lys SP substitution exon 1 VAR_005243 P35575:p.Ala124Thr SP substitution exon 1 VAR_005244 P35575:p.Val166Gly SP substitution exon 1 VAR_005245 P35575:p.Gly184Glu SP substitution exon 1 VAR_005246 P35575:p.Gly188Arg SP substitution exon 1 VAR_005247 P35575:p.Leu211Pro SP substitution exon 1 VAR_005248 P35575:p.Gly222Arg SP substitution exon 1 VAR_005249 P35575:p.Gly266Val SP substitution exon 1 VAR_005250 P35575:p.Gly270Val SP substitution exon 1 VAR_005251 P35575:p.Arg295Cys SP substitution exon 1 VAR_005253 P35575:p.Val338Phe SP substitution exon 1 VAR_005254 P35575:p.Ile341Asn SP substitution exon 1 VAR_005263 P14770:p.Asp37Gly SP substitution exon 1 VAR_005264 P14770:p.Asn61Ser SP substitution exon 1 VAR_005265 O43593:p.Arg620Gln SP substitution exon 1 VAR_005266 O43593:p.Thr1022Ala SP substitution exon 1 VAR_005267 O43593:p.Val1136Asp SP substitution exon 1 VAR_005269 Q08648:p.Arg77Gln SP substitution exon 1 VAR_005272 Q93099:p.Glu42Ala SP substitution exon 1 VAR_005273 Q93099:p.Trp60Gly SP substitution exon 1 VAR_005274 Q93099:p.Tyr62Cys SP substitution exon 1 VAR_005275 Q93099:p.Trp97Gly SP substitution exon 1 VAR_005276 Q93099:p.Ala122Asp SP substitution exon 1 VAR_005277 Q93099:p.Asp153Gly SP substitution exon 1 VAR_005278 Q93099:p.Gly161Arg SP substitution exon 1 VAR_005279 Q93099:p.Ser189Ile SP substitution exon 1 VAR_005280 Q93099:p.Ile216Thr SP substitution exon 1 VAR_005281 Q93099:p.Arg225His SP substitution exon 1 VAR_005282 Q93099:p.Phe227Ser SP substitution exon 1 VAR_005283 Q93099:p.Pro230Ser SP substitution exon 1 VAR_005284 Q93099:p.Pro230Thr SP substitution exon 1 VAR_005285 Q93099:p.Asp291Glu SP substitution exon 1 VAR_005286 Q93099:p.Val300Gly SP substitution exon 1 VAR_005288 P15516:p.Arg41Gln SP substitution exon 1 VAR_005290 Q92902:p.Gly283Trp SP substitution exon 1 VAR_005291 Q92902:p.Pro491Arg SP substitution exon 1 VAR_005292 Q92902:p.Gln603Arg SP substitution exon 1 VAR_005293 Q92902:p.Val630Ile SP substitution exon 1 VAR_005294 P00738:p.Asn129Asp SP substitution exon 1 VAR_005295 P07099:p.Tyr113His SP substitution exon 1 VAR_005296 P07099:p.His139Arg SP substitution exon 1 VAR_005297 P07099:p.Thr396Ile SP substitution exon 1 VAR_005299 P35568:p.Ala512Pro SP substitution exon 1 VAR_005300 P35568:p.Gly971Arg SP substitution exon 1 VAR_005302 P35568:p.Ser1043Tyr SP substitution exon 1 VAR_005303 P35568:p.Cys1095Tyr SP substitution exon 1 VAR_005304 P01130:p.Cys27Trp SP substitution exon 1 VAR_005306 P01130:p.Cys52Tyr SP substitution exon 1 VAR_005307 P01130:p.Arg78Cys SP substitution exon 1 VAR_005308 P01130:p.Trp87Gly SP substitution exon 1 VAR_005309 P01130:p.Cys89Tyr SP substitution exon 1 VAR_005310 P01130:p.Asp90Gly SP substitution exon 1 VAR_005311 P01130:p.Asp90Asn SP substitution exon 1 VAR_005312 P01130:p.Asp90Tyr SP substitution exon 1 VAR_005313 P01130:p.Gln92Glu SP substitution exon 1 VAR_005314 P01130:p.Cys95Gly SP substitution exon 1 VAR_005315 P01130:p.Glu101Lys SP substitution exon 1 VAR_005316 P01130:p.Cys109Arg SP substitution exon 1 VAR_005317 P01130:p.Cys116Arg SP substitution exon 1 VAR_005318 P01130:p.Glu140Lys SP substitution exon 1 VAR_005319 P01130:p.Cys155Gly SP substitution exon 1 VAR_005320 P01130:p.Cys160Tyr SP substitution exon 1 VAR_005321 P01130:p.Asp168His SP substitution exon 1 VAR_005322 P01130:p.Asp168Asn SP substitution exon 1 VAR_005323 P01130:p.Asp168Tyr SP substitution exon 1 VAR_005324 P01130:p.Cys173Arg SP substitution exon 1 VAR_005325 P01130:p.Cys173Trp SP substitution exon 1 VAR_005326 P01130:p.Asp175Asn SP substitution exon 1 VAR_005327 P01130:p.Ser177Leu SP substitution exon 1 VAR_005328 P01130:p.Cys197Phe SP substitution exon 1 VAR_005329 P01130:p.Cys197Tyr SP substitution exon 1 VAR_005330 P01130:p.Cys197Arg SP substitution exon 1 VAR_005332 P01130:p.Asp221Gly SP substitution exon 1 VAR_005333 P01130:p.Asp221Tyr SP substitution exon 1 VAR_005334 P01130:p.Asp224Asn SP substitution exon 1 VAR_005335 P01130:p.Asp224Gly SP substitution exon 1 VAR_005336 P01130:p.Asp224Val SP substitution exon 1 VAR_005337 P01130:p.Ser226Pro SP substitution exon 1 VAR_005338 P01130:p.Asp227Glu SP substitution exon 1 VAR_005340 P01130:p.Glu228Gln SP substitution exon 1 VAR_005341 P01130:p.Glu228Lys SP substitution exon 1 VAR_005342 P01130:p.Cys231Gly SP substitution exon 1 VAR_005343 P01130:p.Glu240Lys SP substitution exon 1 VAR_005344 P01130:p.Cys248Phe SP substitution exon 1 VAR_005345 P01130:p.Cys248Tyr SP substitution exon 1 VAR_005346 P01130:p.Asp256Gly SP substitution exon 1 VAR_005347 P01130:p.Asp266Glu SP substitution exon 1 VAR_005348 P01130:p.Cys270Tyr SP substitution exon 1 VAR_005349 P01130:p.Cys276Tyr SP substitution exon 1 VAR_005350 P01130:p.Glu277Lys SP substitution exon 1 VAR_005351 P01130:p.Ser286Arg SP substitution exon 1 VAR_005352 P01130:p.Asp301Ala SP substitution exon 1 VAR_005353 P01130:p.Cys302Tyr SP substitution exon 1 VAR_005354 P01130:p.Cys302Trp SP substitution exon 1 VAR_005355 P01130:p.Asp304Asn SP substitution exon 1 VAR_005356 P01130:p.Asp304Glu SP substitution exon 1 VAR_005357 P01130:p.Ser306Leu SP substitution exon 1 VAR_005358 P01130:p.Cys313Tyr SP substitution exon 1 VAR_005359 P01130:p.Cys318Tyr SP substitution exon 1 VAR_005360 P01130:p.Cys318Phe SP substitution exon 1 VAR_005361 P01130:p.His327Tyr SP substitution exon 1 VAR_005362 P01130:p.Cys329Tyr SP substitution exon 1 VAR_005363 P01130:p.Gly335Ser SP substitution exon 1 VAR_005364 P01130:p.Cys338Ser SP substitution exon 1 VAR_005365 P01130:p.Asp342Glu SP substitution exon 1 VAR_005366 P01130:p.Asp342Asn SP substitution exon 1 VAR_005367 P01130:p.Gly343Ser SP substitution exon 1 VAR_005368 P01130:p.Arg350Pro SP substitution exon 1 VAR_005369 P01130:p.Cys352Tyr SP substitution exon 1 VAR_005370 P01130:p.Asp354Gly SP substitution exon 1 VAR_005371 P01130:p.Asp354Val SP substitution exon 1 VAR_005372 P01130:p.Glu357Lys SP substitution exon 1 VAR_005373 P01130:p.Cys364Arg SP substitution exon 1 VAR_005374 P01130:p.Cys368Arg SP substitution exon 1 VAR_005375 P01130:p.Cys379Arg SP substitution exon 1 VAR_005376 P01130:p.Ala399Asp SP substitution exon 1 VAR_005377 P01130:p.Leu401His SP substitution exon 1 VAR_005378 P01130:p.Glu408Lys SP substitution exon 1 VAR_005379 P01130:p.Leu414Arg SP substitution exon 1 VAR_005380 P01130:p.Arg416Gln SP substitution exon 1 VAR_005381 P01130:p.Arg416Trp SP substitution exon 1 VAR_005382 P01130:p.Ile423Thr SP substitution exon 1 VAR_005383 P01130:p.Val429Met SP substitution exon 1 VAR_005384 P01130:p.Ala431Thr SP substitution exon 1 VAR_005385 P01130:p.Asp433His SP substitution exon 1 VAR_005386 P01130:p.Thr434Lys SP substitution exon 1 VAR_005387 P01130:p.Ile441Asn SP substitution exon 1 VAR_005388 P01130:p.Ile441Met SP substitution exon 1 VAR_005389 P01130:p.Trp443Cys SP substitution exon 1 VAR_005390 P01130:p.Gly478Arg SP substitution exon 1 VAR_005391 P01130:p.Asp482His SP substitution exon 1 VAR_005392 P01130:p.Trp483Arg SP substitution exon 1 VAR_005394 P01130:p.His485Arg SP substitution exon 1 VAR_005395 P01130:p.Val523Met SP substitution exon 1 VAR_005396 P01130:p.Pro526Ser SP substitution exon 1 VAR_005397 P01130:p.Gly546Asp SP substitution exon 1 VAR_005398 P01130:p.Gly549Asp SP substitution exon 1 VAR_005399 P01130:p.Asn564His SP substitution exon 1 VAR_005400 P01130:p.Asn564Ser SP substitution exon 1 VAR_005401 P01130:p.Gly565Val SP substitution exon 1 VAR_005402 P01130:p.Asp579Asn SP substitution exon 1 VAR_005403 P01130:p.Gly592Glu SP substitution exon 1 VAR_005421 P98164:p.Ala1287Pro SP substitution exon 1 VAR_005422 P98164:p.Ala2872Thr SP substitution exon 1 VAR_005423 P98164:p.Lys4094Glu SP substitution exon 1 VAR_005424 P98164:p.Ile4210Leu SP substitution exon 1 VAR_005425 O00255:p.Pro12Leu SP substitution exon 1 VAR_005426 O00255:p.Leu22Arg SP substitution exon 1 VAR_005427 O00255:p.Glu26Lys SP substitution exon 1 VAR_005428 O00255:p.Leu39Trp SP substitution exon 1 VAR_005429 O00255:p.Gly42Asp SP substitution exon 1 VAR_005430 O00255:p.Glu45Gly SP substitution exon 1 VAR_005432 O00255:p.His139Asp SP substitution exon 1 VAR_005433 O00255:p.His139Tyr SP substitution exon 1 VAR_005434 O00255:p.Lys135Ile SP substitution exon 1 VAR_005436 O00255:p.Phe144Val SP substitution exon 1 VAR_005437 O00255:p.Ala165Pro SP substitution exon 1 VAR_005438 O00255:p.Ala169Asp SP substitution exon 1 VAR_005440 O00255:p.Arg176Gln SP substitution exon 1 VAR_005441 O00255:p.Asp177Tyr SP substitution exon 1 VAR_005442 O00255:p.Ala181Pro SP substitution exon 1 VAR_005443 O00255:p.Glu184Asp SP substitution exon 1 VAR_005444 O00255:p.Trp188Ser SP substitution exon 1 VAR_005445 O00255:p.Val189Glu SP substitution exon 1 VAR_005446 O00255:p.Leu228Pro SP substitution exon 1 VAR_005447 O00255:p.Ala247Val SP substitution exon 1 VAR_005448 O00255:p.Glu260Lys SP substitution exon 1 VAR_005449 O00255:p.Leu269Pro SP substitution exon 1 VAR_005450 O00255:p.Leu272Pro SP substitution exon 1 VAR_005451 O00255:p.Ala289Glu SP substitution exon 1 VAR_005452 O00255:p.Leu291Pro SP substitution exon 1 VAR_005453 O00255:p.Ala314Pro SP substitution exon 1 VAR_005454 O00255:p.Arg319Pro SP substitution exon 1 VAR_005455 O00255:p.Ala342Asp SP substitution exon 1 VAR_005456 O00255:p.Trp346Arg SP substitution exon 1 VAR_005457 O00255:p.Thr349Arg SP substitution exon 1 VAR_005458 O00255:p.Glu364Lys SP substitution exon 1 VAR_005460 O00255:p.Ala373Asp SP substitution exon 1 VAR_005461 O00255:p.Asp423Asn SP substitution exon 1 VAR_005464 O00255:p.Trp441Arg SP substitution exon 1 VAR_005465 O00255:p.Phe452Ser SP substitution exon 1 VAR_005466 O00255:p.Thr546Ala SP substitution exon 1 VAR_005467 O00255:p.Ser560Asn SP substitution exon 1 VAR_005468 Q99972:p.Gly246Arg SP substitution exon 1 VAR_005469 Q99972:p.Gln337Arg SP substitution exon 1 VAR_005470 Q99972:p.Gly364Val SP substitution exon 1 VAR_005471 Q99972:p.Gly367Arg SP substitution exon 1 VAR_005472 Q99972:p.Pro370Leu SP substitution exon 1 VAR_005473 Q99972:p.Val426Phe SP substitution exon 1 VAR_005474 Q99972:p.Tyr437His SP substitution exon 1 VAR_005475 Q99972:p.Ile477Ser SP substitution exon 1 VAR_005476 Q99972:p.Asn480Lys SP substitution exon 1 VAR_005477 Q99972:p.Ile499Phe SP substitution exon 1 VAR_005478 Q00604:p.Leu13Arg SP substitution exon 1 VAR_005479 Q00604:p.Cys39Arg SP substitution exon 1 VAR_005480 Q00604:p.Arg41Lys SP substitution exon 1 VAR_005481 Q00604:p.His42Arg SP substitution exon 1 VAR_005482 Q00604:p.Tyr44Cys SP substitution exon 1 VAR_005483 Q00604:p.Lys58Asn SP substitution exon 1 VAR_005484 Q00604:p.Val60Glu SP substitution exon 1 VAR_005485 Q00604:p.Leu61Phe SP substitution exon 1 VAR_005486 Q00604:p.Leu61Pro SP substitution exon 1 VAR_005487 Q00604:p.Ala63Asp SP substitution exon 1 VAR_005488 Q00604:p.Cys65Tyr SP substitution exon 1 VAR_005489 Q00604:p.Cys69Ser SP substitution exon 1 VAR_005490 Q00604:p.Cys65Trp SP substitution exon 1 VAR_005491 Q00604:p.Arg74Cys SP substitution exon 1 VAR_005492 Q00604:p.Ser75Cys SP substitution exon 1 VAR_005494 Q00604:p.Arg90Pro SP substitution exon 1 VAR_005496 Q00604:p.Cys96Tyr SP substitution exon 1 VAR_005497 Q00604:p.Ser101Phe SP substitution exon 1 VAR_005498 Q00604:p.Lys104Gln SP substitution exon 1 VAR_005499 Q00604:p.Tyr120Cys SP substitution exon 1 VAR_005500 Q00604:p.Arg121Gly SP substitution exon 1 VAR_005501 Q00604:p.Arg121Gln SP substitution exon 1 VAR_005502 Q00604:p.Arg121Trp SP substitution exon 1 VAR_005504 Q00604:p.Ile123Asn SP substitution exon 1 VAR_005505 Q00604:p.Leu124Phe SP substitution exon 1 VAR_005506 P24001:p.Asp152Asn SP substitution exon 1 VAR_005507 P51810:p.Gly35Asp SP substitution exon 1 VAR_005508 P51810:p.Gly84Asp SP substitution exon 1 VAR_005509 P51810:p.Gly84Arg SP substitution exon 1 VAR_005510 P51810:p.Cys116Arg SP substitution exon 1 VAR_005511 P51810:p.Gly118Glu SP substitution exon 1 VAR_005513 P51810:p.Trp133Arg SP substitution exon 1 VAR_005514 P51810:p.Ala138Val SP substitution exon 1 VAR_005515 P51810:p.Ser152Asn SP substitution exon 1 VAR_005516 P51810:p.Ala173Asp SP substitution exon 1 VAR_005517 P51810:p.Thr232Lys SP substitution exon 1 VAR_005518 P51810:p.Glu235Lys SP substitution exon 1 VAR_005520 P51810:p.Trp292Gly SP substitution exon 1 VAR_005521 Q16633:p.Thr141Ala SP substitution exon 1 VAR_005522 Q16633:p.Gln194Arg SP substitution exon 1 VAR_005524 P08567:p.Trp92Arg SP substitution exon 1 VAR_005527 P61457:p.Thr79Ile SP substitution exon 1 VAR_005528 P61457:p.Cys82Arg SP substitution exon 1 VAR_005529 P61457:p.Arg88Gln SP substitution exon 1 VAR_005530 P61457:p.Glu97Lys SP substitution exon 1 VAR_005531 P37287:p.Ser155Phe SP substitution exon 1 VAR_005532 P37287:p.Asn297Asp SP substitution exon 1 VAR_005533 P98161:p.Met2760Thr SP substitution exon 1 VAR_005535 P98161:p.Leu2763Val SP substitution exon 1 VAR_005536 P98161:p.Met2764Thr SP substitution exon 1 VAR_005537 P98161:p.Arg2791Gln SP substitution exon 1 VAR_005538 P98161:p.Ile2826Thr SP substitution exon 1 VAR_005539 P98161:p.Val3008Leu SP substitution exon 1 VAR_005541 P98161:p.Val3375Met SP substitution exon 1 VAR_005542 P98161:p.Glu3632Asp SP substitution exon 1 VAR_005543 P98161:p.Met3678Thr SP substitution exon 1 VAR_005545 P98161:p.Gly4032Asp SP substitution exon 1 VAR_005546 P98161:p.Ile4045Val SP substitution exon 1 VAR_005547 P98161:p.Val4058Ala SP substitution exon 1 VAR_005548 P50897:p.His39Gln SP substitution exon 1 VAR_005549 P50897:p.Gly42Glu SP substitution exon 1 VAR_005550 P50897:p.Thr75Pro SP substitution exon 1 VAR_005551 P50897:p.Asp79Gly SP substitution exon 1 VAR_005552 P50897:p.Tyr109Asp SP substitution exon 1 VAR_005553 P50897:p.Arg122Trp SP substitution exon 1 VAR_005554 P50897:p.Ile134Thr SP substitution exon 1 VAR_005555 P50897:p.Gln177Glu SP substitution exon 1 VAR_005556 P50897:p.Val181Leu SP substitution exon 1 VAR_005557 P50897:p.Val181Met SP substitution exon 1 VAR_005558 P50897:p.Leu219Gln SP substitution exon 1 VAR_005559 P50897:p.Tyr247His SP substitution exon 1 VAR_005560 P50897:p.Gly250Val SP substitution exon 1 VAR_005563 P02810:p.Asp20Asn SP substitution exon 1 VAR_005564 P02810:p.Asp66Asn SP substitution exon 1 VAR_005565 P02810:p.Gln163Lys SP substitution exon 1 VAR_005566 P07225:p.Lys196Glu SP substitution exon 1 VAR_005567 P07225:p.Asn258Ser SP substitution exon 1 VAR_005568 P07225:p.Ser501Pro SP substitution exon 1 VAR_005569 Q16769:p.Gln71Arg SP substitution exon 1 VAR_005570 P55895:p.Arg229Gln SP substitution exon 1 VAR_005571 P55895:p.Cys478Tyr SP substitution exon 1 VAR_005572 P06400:p.Glu72Gln SP substitution exon 1 VAR_005573 P06400:p.Glu137Asp SP substitution exon 1 VAR_005574 P06400:p.Ile185Thr SP substitution exon 1 VAR_005575 P06400:p.Arg358Gln SP substitution exon 1 VAR_005576 P06400:p.Met457Arg SP substitution exon 1 VAR_005578 P06400:p.His549Tyr SP substitution exon 1 VAR_005579 P06400:p.Ser567Leu SP substitution exon 1 VAR_005580 P06400:p.Ala635Pro SP substitution exon 1 VAR_005581 P06400:p.Val654Glu SP substitution exon 1 VAR_005582 P06400:p.Arg661Trp SP substitution exon 1 VAR_005583 P06400:p.Leu662Pro SP substitution exon 1 VAR_005584 P06400:p.His673Pro SP substitution exon 1 VAR_005585 P06400:p.Gln685Pro SP substitution exon 1 VAR_005586 P06400:p.Cys706Tyr SP substitution exon 1 VAR_005587 P06400:p.Cys712Arg SP substitution exon 1 VAR_005588 P06400:p.Asn803Lys SP substitution exon 1 VAR_005589 P21817:p.Cys35Arg SP substitution exon 1 VAR_005590 P21817:p.Arg163Cys SP substitution exon 1 VAR_005591 P21817:p.Gly248Arg SP substitution exon 1 VAR_005592 P21817:p.Gly341Arg SP substitution exon 1 VAR_005593 P21817:p.Ile403Met SP substitution exon 1 VAR_005594 P21817:p.Arg471Cys SP substitution exon 1 VAR_005595 P21817:p.Tyr522Ser SP substitution exon 1 VAR_005596 P21817:p.Arg552Trp SP substitution exon 1 VAR_005597 P21817:p.Arg614Cys SP substitution exon 1 VAR_005598 P21817:p.Arg614Leu SP substitution exon 1 VAR_005599 P21817:p.Pro1787Leu SP substitution exon 1 VAR_005600 P21817:p.Gly2060Cys SP substitution exon 1 VAR_005601 P21817:p.Arg2163Cys SP substitution exon 1 VAR_005602 P21817:p.Arg2163His SP substitution exon 1 VAR_005603 P21817:p.Val2168Met SP substitution exon 1 VAR_005604 P21817:p.Thr2206Met SP substitution exon 1 VAR_005605 P21817:p.Gly2434Arg SP substitution exon 1 VAR_005606 P21817:p.Arg2435His SP substitution exon 1 VAR_005609 P31213:p.Arg246Trp SP substitution exon 1 VAR_005610 P04279:p.Ser79Thr SP substitution exon 1 VAR_005612 O60880:p.Arg32Thr SP substitution exon 1 VAR_005613 O60880:p.Thr68Ile SP substitution exon 1 VAR_005614 O60880:p.Pro101Leu SP substitution exon 1 VAR_005615 Q16637:p.Ala2Gly SP substitution exon 1 VAR_005616 Q16637:p.Ser262Ile SP substitution exon 1 VAR_005617 Q16637:p.Tyr272Cys SP substitution exon 1 VAR_005618 Q16637:p.Thr274Ile SP substitution exon 1 VAR_005619 Q16637:p.Gly275Ser SP substitution exon 1 VAR_005620 Q16637:p.Gly279Val SP substitution exon 1 VAR_005621 P23497:p.Met433Val SP substitution exon 1 VAR_005622 P23497:p.Ser471Pro SP substitution exon 1 VAR_005623 P23327:p.Ser96Ala SP substitution exon 1 VAR_005625 P78539:p.Pro225Ser SP substitution exon 1 VAR_005626 P78539:p.Ser413Phe SP substitution exon 1 VAR_005627 P49675:p.Arg182Leu SP substitution exon 1 VAR_005628 P49675:p.Ala203Asp SP substitution exon 1 VAR_005629 Q15545:p.Ser178Arg SP substitution exon 1 VAR_005630 Q13428:p.Trp53Arg SP substitution exon 1 VAR_005631 Q13428:p.Pro516Leu SP substitution exon 1 VAR_005632 Q13428:p.Val887Ala SP substitution exon 1 VAR_005633 Q13428:p.Ala1390Val SP substitution exon 1 VAR_005634 Q13428:p.Asp1432Gly SP substitution exon 1 VAR_005635 P42166:p.Gln599Glu SP substitution exon 1 VAR_005636 P51580:p.Leu49Ser SP substitution exon 1 VAR_005637 P51580:p.Ala80Pro SP substitution exon 1 VAR_005638 P51580:p.Ala154Thr SP substitution exon 1 VAR_005639 P51580:p.Tyr180Phe SP substitution exon 1 VAR_005642 O14773:p.Arg175His SP substitution exon 1 VAR_005646 P49815:p.Leu292Pro SP substitution exon 1 VAR_005647 P49815:p.Tyr407Asp SP substitution exon 1 VAR_005648 P49815:p.Met449Ile SP substitution exon 1 VAR_005649 P49815:p.Ala607Thr SP substitution exon 1 VAR_005650 P49815:p.Arg611Gln SP substitution exon 1 VAR_005651 P49815:p.Arg611Trp SP substitution exon 1 VAR_005652 P49815:p.Leu826Met SP substitution exon 1 VAR_005653 P49815:p.Arg905Gln SP substitution exon 1 VAR_005654 P49815:p.Arg905Trp SP substitution exon 1 VAR_005655 P49815:p.Asp1084Glu SP substitution exon 1 VAR_005656 P49815:p.Arg1200Trp SP substitution exon 1 VAR_005657 P49815:p.Pro1227Leu SP substitution exon 1 VAR_005658 P49815:p.Arg1240Trp SP substitution exon 1 VAR_005659 P49815:p.Asp1295Val SP substitution exon 1 VAR_005661 P49815:p.Tyr1549Cys SP substitution exon 1 VAR_005663 P49815:p.Asn1643Ile SP substitution exon 1 VAR_005664 P49815:p.Tyr1650Cys SP substitution exon 1 VAR_005665 P49815:p.Asp1690Tyr SP substitution exon 1 VAR_005666 P49815:p.Ala1712Glu SP substitution exon 1 VAR_005667 P49815:p.Leu1750Phe SP substitution exon 1 VAR_005668 P49638:p.His101Gln SP substitution exon 1 VAR_005670 P40337:p.Ser38Pro SP substitution exon 1 VAR_005671 P40337:p.Glu52Lys SP substitution exon 1 VAR_005672 P40337:p.Ser65Leu SP substitution exon 1 VAR_005673 P40337:p.Ser65Trp SP substitution exon 1 VAR_005675 P40337:p.Ser68Trp SP substitution exon 1 VAR_005676 P40337:p.Glu70Lys SP substitution exon 1 VAR_005677 P40337:p.Val74Gly SP substitution exon 1 VAR_005679 P40337:p.Phe76Ile SP substitution exon 1 VAR_005680 P40337:p.Phe76Leu SP substitution exon 1 VAR_005681 P40337:p.Phe76Ser SP substitution exon 1 VAR_005682 P40337:p.Asn78His SP substitution exon 1 VAR_005683 P40337:p.Asn78Ser SP substitution exon 1 VAR_005684 P40337:p.Asn78Thr SP substitution exon 1 VAR_005685 P40337:p.Arg79Pro SP substitution exon 1 VAR_005686 P40337:p.Ser80Ile SP substitution exon 1 VAR_005687 P40337:p.Ser80Arg SP substitution exon 1 VAR_005688 P40337:p.Ser80Asn SP substitution exon 1 VAR_005689 P40337:p.Pro81Ser SP substitution exon 1 VAR_005690 P40337:p.Arg82Pro SP substitution exon 1 VAR_005692 P40337:p.Val84Leu SP substitution exon 1 VAR_005693 P40337:p.Pro86Ala SP substitution exon 1 VAR_005694 P40337:p.Pro86Leu SP substitution exon 1 VAR_005695 P40337:p.Pro86Arg SP substitution exon 1 VAR_005696 P40337:p.Pro86Ser SP substitution exon 1 VAR_005697 P40337:p.Trp88Arg SP substitution exon 1 VAR_005698 P40337:p.Trp88Ser SP substitution exon 1 VAR_005699 P40337:p.Leu89His SP substitution exon 1 VAR_005700 P40337:p.Leu89Pro SP substitution exon 1 VAR_005701 P40337:p.Phe91Leu SP substitution exon 1 VAR_005703 P40337:p.Gly93Cys SP substitution exon 1 VAR_005704 P40337:p.Gly93Asp SP substitution exon 1 VAR_005705 P40337:p.Gly93Ser SP substitution exon 1 VAR_005706 P40337:p.Gln96Pro SP substitution exon 1 VAR_005707 P40337:p.Tyr98His SP substitution exon 1 VAR_005708 P40337:p.Leu101Gly SP substitution exon 1 VAR_005709 P40337:p.Leu101Arg SP substitution exon 1 VAR_005710 P40337:p.Gly104Ala SP substitution exon 1 VAR_005711 P40337:p.Thr105Pro SP substitution exon 1 VAR_005712 P40337:p.Gly106Asp SP substitution exon 1 VAR_005713 P40337:p.Arg107Pro SP substitution exon 1 VAR_005714 P40337:p.Ser111Cys SP substitution exon 1 VAR_005715 P40337:p.Ser111Asn SP substitution exon 1 VAR_005716 P40337:p.Ser111Arg SP substitution exon 1 VAR_005717 P40337:p.Tyr112His SP substitution exon 1 VAR_005718 P40337:p.Gly114Cys SP substitution exon 1 VAR_005719 P40337:p.Gly114Arg SP substitution exon 1 VAR_005720 P40337:p.Gly114Ser SP substitution exon 1 VAR_005722 P40337:p.His115Tyr SP substitution exon 1 VAR_005723 P40337:p.His115Gln SP substitution exon 1 VAR_005724 P40337:p.Leu116Val SP substitution exon 1 VAR_005725 P40337:p.Trp117Cys SP substitution exon 1 VAR_005726 P40337:p.Leu118Pro SP substitution exon 1 VAR_005727 P40337:p.Leu118Arg SP substitution exon 1 VAR_005728 P40337:p.Phe119Leu SP substitution exon 1 VAR_005729 P40337:p.Phe119Ser SP substitution exon 1 VAR_005730 P40337:p.Asp121Gly SP substitution exon 1 VAR_005731 P40337:p.Leu128Phe SP substitution exon 1 VAR_005733 P40337:p.Val130Leu SP substitution exon 1 VAR_005734 P40337:p.Asn131Lys SP substitution exon 1 VAR_005735 P40337:p.Asn131Thr SP substitution exon 1 VAR_005736 P40337:p.Phe136Ser SP substitution exon 1 VAR_005737 P40337:p.Phe136Cys SP substitution exon 1 VAR_005738 P40337:p.Asp143Glu SP substitution exon 1 VAR_005740 P40337:p.Ala149Thr SP substitution exon 1 VAR_005741 P40337:p.Pro154Leu SP substitution exon 1 VAR_005742 P40337:p.Val155Gly SP substitution exon 1 VAR_005743 P40337:p.Tyr156Cys SP substitution exon 1 VAR_005744 P40337:p.Tyr156Asp SP substitution exon 1 VAR_005746 P40337:p.Thr157Ile SP substitution exon 1 VAR_005748 P40337:p.Leu158Pro SP substitution exon 1 VAR_005749 P40337:p.Leu158Val SP substitution exon 1 VAR_005750 P40337:p.Lys159Glu SP substitution exon 1 VAR_005751 P40337:p.Arg161Gln SP substitution exon 1 VAR_005752 P40337:p.Arg161Pro SP substitution exon 1 VAR_005753 P40337:p.Arg161Gly SP substitution exon 1 VAR_005754 P40337:p.Cys162Phe SP substitution exon 1 VAR_005755 P40337:p.Cys162Arg SP substitution exon 1 VAR_005756 P40337:p.Cys162Trp SP substitution exon 1 VAR_005757 P40337:p.Cys162Tyr SP substitution exon 1 VAR_005758 P40337:p.Gln164Arg SP substitution exon 1 VAR_005759 P40337:p.Val166Phe SP substitution exon 1 VAR_005760 P40337:p.Arg167Gly SP substitution exon 1 VAR_005761 P40337:p.Arg167Gln SP substitution exon 1 VAR_005762 P40337:p.Arg167Trp SP substitution exon 1 VAR_005763 P40337:p.Val170Asp SP substitution exon 1 VAR_005764 P40337:p.Val170Phe SP substitution exon 1 VAR_005765 P40337:p.Val170Gly SP substitution exon 1 VAR_005766 P40337:p.Tyr175Asp SP substitution exon 1 VAR_005768 P40337:p.Leu178Pro SP substitution exon 1 VAR_005769 P40337:p.Leu178Gln SP substitution exon 1 VAR_005770 P40337:p.Ile180Val SP substitution exon 1 VAR_005771 P40337:p.Leu184Arg SP substitution exon 1 VAR_005772 P40337:p.Leu184Pro SP substitution exon 1 VAR_005773 P40337:p.Glu186Lys SP substitution exon 1 VAR_005775 P40337:p.Leu188Pro SP substitution exon 1 VAR_005776 P40337:p.Leu188Gln SP substitution exon 1 VAR_005777 P40337:p.Leu188Val SP substitution exon 1 VAR_005778 P40337:p.Leu198Arg SP substitution exon 1 VAR_005779 P40337:p.Arg200Trp SP substitution exon 1 VAR_005780 P38435:p.Arg325Gln SP substitution exon 1 VAR_005781 P38435:p.Leu394Arg SP substitution exon 1 VAR_005782 P04275:p.Trp377Cys SP substitution exon 1 VAR_005783 P04275:p.Asn528Ser SP substitution exon 1 VAR_005784 P04275:p.Gly550Arg SP substitution exon 1 VAR_005785 P04275:p.Thr789Ala SP substitution exon 1 VAR_005786 P04275:p.Thr791Met SP substitution exon 1 VAR_005787 P04275:p.Arg816Trp SP substitution exon 1 VAR_005788 P04275:p.Gln852Arg SP substitution exon 1 VAR_005789 P04275:p.Arg854Gln SP substitution exon 1 VAR_005790 P04275:p.Asn857Asp SP substitution exon 1 VAR_005791 P04275:p.Pro1266Leu SP substitution exon 1 VAR_005792 P04275:p.His1268Asp SP substitution exon 1 VAR_005793 P04275:p.Cys1272Arg SP substitution exon 1 VAR_005794 P04275:p.Arg1306Trp SP substitution exon 1 VAR_005795 P04275:p.Arg1308Cys SP substitution exon 1 VAR_005796 P04275:p.Trp1313Cys SP substitution exon 1 VAR_005797 P04275:p.Val1314Leu SP substitution exon 1 VAR_005798 P04275:p.Val1316Met SP substitution exon 1 VAR_005799 P04275:p.Val1318Leu SP substitution exon 1 VAR_005800 P04275:p.Gly1324Ser SP substitution exon 1 VAR_005801 P04275:p.Arg1341Gln SP substitution exon 1 VAR_005802 P04275:p.Arg1374Cys SP substitution exon 1 VAR_005803 P04275:p.Arg1374His SP substitution exon 1 VAR_005804 P04275:p.Thr1381Ala SP substitution exon 1 VAR_005805 P04275:p.Arg1399His SP substitution exon 1 VAR_005806 P04275:p.Leu1460Val SP substitution exon 1 VAR_005807 P04275:p.Ala1461Val SP substitution exon 1 VAR_005808 P04275:p.Phe1514Cys SP substitution exon 1 VAR_005809 P04275:p.Leu1540Pro SP substitution exon 1 VAR_005810 P04275:p.Tyr1584Cys SP substitution exon 1 VAR_005811 P04275:p.Arg1597Gly SP substitution exon 1 VAR_005812 P04275:p.Arg1597Gln SP substitution exon 1 VAR_005813 P04275:p.Arg1597Trp SP substitution exon 1 VAR_005814 P04275:p.Val1607Asp SP substitution exon 1 VAR_005815 P04275:p.Gly1609Arg SP substitution exon 1 VAR_005816 P04275:p.Ser1613Pro SP substitution exon 1 VAR_005817 P04275:p.Ile1628Thr SP substitution exon 1 VAR_005818 P04275:p.Glu1638Lys SP substitution exon 1 VAR_005819 P04275:p.Pro1648Ser SP substitution exon 1 VAR_005820 P04275:p.Val1665Glu SP substitution exon 1 VAR_005821 P04275:p.Cys2739Tyr SP substitution exon 1 VAR_005822 P04275:p.Cys2773Arg SP substitution exon 1 VAR_005823 P42768:p.Leu27Phe SP substitution exon 1 VAR_005825 P42768:p.Glu31Lys SP substitution exon 1 VAR_005826 P42768:p.Thr48Ile SP substitution exon 1 VAR_005827 P42768:p.Ala56Val SP substitution exon 1 VAR_005828 P42768:p.Val75Met SP substitution exon 1 VAR_005829 P42768:p.Ser82Pro SP substitution exon 1 VAR_005830 P42768:p.Arg86His SP substitution exon 1 VAR_005831 P42768:p.Arg86Leu SP substitution exon 1 VAR_005832 P42768:p.Arg86Cys SP substitution exon 1 VAR_005833 P42768:p.Trp97Cys SP substitution exon 1 VAR_005834 P42768:p.Glu131Lys SP substitution exon 1 VAR_005835 P42768:p.Glu133Lys SP substitution exon 1 VAR_005836 P42768:p.Gly187Cys SP substitution exon 1 VAR_005837 P42768:p.Ala236Glu SP substitution exon 1 VAR_005838 P42768:p.Lys476Glu SP substitution exon 1 VAR_005839 P42768:p.Arg477Lys SP substitution exon 1 VAR_005840 O76024:p.Val333Ile SP substitution exon 1 VAR_005841 O76024:p.Arg456His SP substitution exon 1 VAR_005842 O76024:p.Pro504Leu SP substitution exon 1 VAR_005843 O76024:p.Arg611His SP substitution exon 1 VAR_005844 O76024:p.Gly695Val SP substitution exon 1 VAR_005846 Q01831:p.Pro334His SP substitution exon 1 VAR_005851 P04637:p.Asp7His SP substitution exon 1 VAR_005852 P04637:p.Leu35Phe SP substitution exon 1 VAR_005853 P04637:p.Leu43Ser SP substitution exon 1 VAR_005854 P04637:p.Trp53Cys SP substitution exon 1 VAR_005855 P04637:p.Pro60Ser SP substitution exon 1 VAR_005856 P04637:p.Pro72Arg SP substitution exon 1 VAR_005857 P04637:p.Ala79Thr SP substitution exon 1 VAR_005858 P04637:p.Pro87Gln SP substitution exon 1 VAR_005859 P04637:p.Ser94Thr SP substitution exon 1 VAR_005860 P04637:p.Arg110Cys SP substitution exon 1 VAR_005861 P04637:p.Arg110Leu SP substitution exon 1 VAR_005862 P04637:p.Arg110Pro SP substitution exon 1 VAR_005863 P04637:p.Phe113Cys SP substitution exon 1 VAR_005864 P04637:p.Thr125Met SP substitution exon 1 VAR_005865 P04637:p.Tyr126Asp SP substitution exon 1 VAR_005866 P04637:p.Tyr126Asn SP substitution exon 1 VAR_005867 P04637:p.Ser127Phe SP substitution exon 1 VAR_005868 P04637:p.Pro128Ser SP substitution exon 1 VAR_005869 P04637:p.Ala129Asp SP substitution exon 1 VAR_005870 P04637:p.Leu130Arg SP substitution exon 1 VAR_005871 P04637:p.Asn131Ser SP substitution exon 1 VAR_005872 P04637:p.Asn131Lys SP substitution exon 1 VAR_005873 P04637:p.Lys132Met SP substitution exon 1 VAR_005874 P04637:p.Lys132Gln SP substitution exon 1 VAR_005875 P04637:p.Met133Thr SP substitution exon 1 VAR_005876 P04637:p.Cys135Ser SP substitution exon 1 VAR_005877 P04637:p.Cys135Phe SP substitution exon 1 VAR_005878 P04637:p.Gln136Glu SP substitution exon 1 VAR_005879 P04637:p.Gln136Lys SP substitution exon 1 VAR_005880 P04637:p.Leu137Gln SP substitution exon 1 VAR_005881 P04637:p.Ala138Pro SP substitution exon 1 VAR_005882 P04637:p.Lys139Asn SP substitution exon 1 VAR_005884 P04637:p.Cys141Gly SP substitution exon 1 VAR_005885 P04637:p.Cys141Phe SP substitution exon 1 VAR_005886 P04637:p.Cys141Tyr SP substitution exon 1 VAR_005887 P04637:p.Val143Ala SP substitution exon 1 VAR_005888 P04637:p.Gln144Pro SP substitution exon 1 VAR_005889 P04637:p.Leu145Pro SP substitution exon 1 VAR_005890 P04637:p.Leu145Gln SP substitution exon 1 VAR_005891 P04637:p.Val147Asp SP substitution exon 1 VAR_005892 P04637:p.Val147Gly SP substitution exon 1 VAR_005893 P04637:p.Ser149Pro SP substitution exon 1 VAR_005894 P04637:p.Pro151Ala SP substitution exon 1 VAR_005895 P04637:p.Pro151Ser SP substitution exon 1 VAR_005896 P04637:p.Pro151Thr SP substitution exon 1 VAR_005897 P04637:p.Pro152Leu SP substitution exon 1 VAR_005898 P04637:p.Pro152Ser SP substitution exon 1 VAR_005899 P04637:p.Pro153Thr SP substitution exon 1 VAR_005900 P04637:p.Gly154Val SP substitution exon 1 VAR_005901 P04637:p.Thr155Ala SP substitution exon 1 VAR_005902 P04637:p.Arg156Pro SP substitution exon 1 VAR_005903 P04637:p.Val157Asp SP substitution exon 1 VAR_005904 P04637:p.Val157Phe SP substitution exon 1 VAR_005905 P04637:p.Arg158Cys SP substitution exon 1 VAR_005906 P04637:p.Arg158Gly SP substitution exon 1 VAR_005907 P04637:p.Arg158His SP substitution exon 1 VAR_005908 P04637:p.Met160Ile SP substitution exon 1 VAR_005909 P04637:p.Ala161Ser SP substitution exon 1 VAR_005910 P04637:p.Ile162Ser SP substitution exon 1 VAR_005911 P04637:p.Ile162Val SP substitution exon 1 VAR_005912 P04637:p.Tyr163His SP substitution exon 1 VAR_005913 P04637:p.Lys164Asn SP substitution exon 1 VAR_005914 P04637:p.Lys164Gln SP substitution exon 1 VAR_005915 P04637:p.Gln165Leu SP substitution exon 1 VAR_005916 P04637:p.Gln165Arg SP substitution exon 1 VAR_005917 P04637:p.Ser166Leu SP substitution exon 1 VAR_005918 P04637:p.His168Arg SP substitution exon 1 VAR_005919 P04637:p.Met169Ile SP substitution exon 1 VAR_005920 P04637:p.Met169Thr SP substitution exon 1 VAR_005921 P04637:p.Thr170Met SP substitution exon 1 VAR_005922 P04637:p.Thr170Ser SP substitution exon 1 VAR_005923 P04637:p.Val172Ala SP substitution exon 1 VAR_005924 P04637:p.Val173Glu SP substitution exon 1 VAR_005925 P04637:p.Val173Leu SP substitution exon 1 VAR_005926 P04637:p.Val173Met SP substitution exon 1 VAR_005927 P04637:p.Arg174Lys SP substitution exon 1 VAR_005928 P04637:p.Arg175Cys SP substitution exon 1 VAR_005929 P04637:p.Arg175Gly SP substitution exon 1 VAR_005930 P04637:p.Arg175Leu SP substitution exon 1 VAR_005931 P04637:p.Arg175Pro SP substitution exon 1 VAR_005932 P04637:p.Arg175His SP substitution exon 1 VAR_005933 P04637:p.Cys176Phe SP substitution exon 1 VAR_005934 P04637:p.Cys176Trp SP substitution exon 1 VAR_005935 P04637:p.Pro177Leu SP substitution exon 1 VAR_005937 P04637:p.Arg181Leu SP substitution exon 1 VAR_005938 P04637:p.Cys182Ser SP substitution exon 1 VAR_005939 P04637:p.Asp184Tyr SP substitution exon 1 VAR_005940 P04637:p.Asp186Tyr SP substitution exon 1 VAR_005941 P04637:p.Gly187Cys SP substitution exon 1 VAR_005942 P04637:p.Gly187Ser SP substitution exon 1 VAR_005943 P04637:p.Ala189Pro SP substitution exon 1 VAR_005944 P04637:p.Pro190Leu SP substitution exon 1 VAR_005945 P04637:p.Pro191Thr SP substitution exon 1 VAR_005946 P04637:p.Gln192Arg SP substitution exon 1 VAR_005947 P04637:p.His193Asp SP substitution exon 1 VAR_005948 P04637:p.His193Arg SP substitution exon 1 VAR_005949 P04637:p.Leu194Pro SP substitution exon 1 VAR_005950 P04637:p.Leu194Arg SP substitution exon 1 VAR_005951 P04637:p.Ile195Thr SP substitution exon 1 VAR_005952 P04637:p.Glu198Lys SP substitution exon 1 VAR_005953 P04637:p.Tyr205Cys SP substitution exon 1 VAR_005954 P04637:p.Tyr205Asp SP substitution exon 1 VAR_005955 P04637:p.Arg213Gln SP substitution exon 1 VAR_005956 P04637:p.Val216Met SP substitution exon 1 VAR_005957 P04637:p.Tyr220Cys SP substitution exon 1 VAR_005958 P04637:p.Tyr220His SP substitution exon 1 VAR_005959 P04637:p.Tyr220Ser SP substitution exon 1 VAR_005960 P04637:p.Asp228Glu SP substitution exon 1 VAR_005961 P04637:p.Thr230Ile SP substitution exon 1 VAR_005962 P04637:p.Ile232Thr SP substitution exon 1 VAR_005963 P04637:p.Tyr234Cys SP substitution exon 1 VAR_005964 P04637:p.Tyr234His SP substitution exon 1 VAR_005965 P04637:p.Met237Ile SP substitution exon 1 VAR_005966 P04637:p.Cys238Phe SP substitution exon 1 VAR_005967 P04637:p.Cys238Tyr SP substitution exon 1 VAR_005968 P04637:p.Ser240Ile SP substitution exon 1 VAR_005969 P04637:p.Ser241Phe SP substitution exon 1 VAR_005970 P04637:p.Cys242Phe SP substitution exon 1 VAR_005971 P04637:p.Gly245Ala SP substitution exon 1 VAR_005972 P04637:p.Gly245Cys SP substitution exon 1 VAR_005973 P04637:p.Gly245Asp SP substitution exon 1 VAR_005974 P04637:p.Gly245Ser SP substitution exon 1 VAR_005975 P04637:p.Gly245Val SP substitution exon 1 VAR_005976 P04637:p.Met246Arg SP substitution exon 1 VAR_005977 P04637:p.Met246Thr SP substitution exon 1 VAR_005978 P04637:p.Met246Val SP substitution exon 1 VAR_005980 P04637:p.Asn247Ile SP substitution exon 1 VAR_005981 P04637:p.Arg248Gly SP substitution exon 1 VAR_005982 P04637:p.Arg248Leu SP substitution exon 1 VAR_005983 P04637:p.Arg248Gln SP substitution exon 1 VAR_005984 P04637:p.Arg248Trp SP substitution exon 1 VAR_005985 P04637:p.Arg249Gly SP substitution exon 1 VAR_005986 P04637:p.Arg249Ser SP substitution exon 1 VAR_005987 P04637:p.Ile251Asn SP substitution exon 1 VAR_005988 P04637:p.Leu252Pro SP substitution exon 1 VAR_005989 P04637:p.Leu257Pro SP substitution exon 1 VAR_005990 P04637:p.Glu258Asp SP substitution exon 1 VAR_005991 P04637:p.Glu258Lys SP substitution exon 1 VAR_005992 P04637:p.Val272Leu SP substitution exon 1 VAR_005993 P04637:p.Arg273Cys SP substitution exon 1 VAR_005994 P04637:p.Arg273Gly SP substitution exon 1 VAR_005995 P04637:p.Arg273His SP substitution exon 1 VAR_005997 P04637:p.Val274Phe SP substitution exon 1 VAR_005998 P04637:p.Cys275Tyr SP substitution exon 1 VAR_005999 P04637:p.Cys275Trp SP substitution exon 1 VAR_006000 P04637:p.Cys277Gly SP substitution exon 1 VAR_006001 P04637:p.Pro278Ala SP substitution exon 1 VAR_006002 P04637:p.Pro278His SP substitution exon 1 VAR_006003 P04637:p.Pro278Leu SP substitution exon 1 VAR_006004 P04637:p.Pro278Ser SP substitution exon 1 VAR_006005 P04637:p.Pro278Thr SP substitution exon 1 VAR_006006 P04637:p.Gly279Glu SP substitution exon 1 VAR_006007 P04637:p.Arg280Lys SP substitution exon 1 VAR_006008 P04637:p.Arg280Ile SP substitution exon 1 VAR_006009 P04637:p.Arg280Thr SP substitution exon 1 VAR_006010 P04637:p.Asp281Ala SP substitution exon 1 VAR_006011 P04637:p.Asp281Glu SP substitution exon 1 VAR_006012 P04637:p.Asp281Gly SP substitution exon 1 VAR_006013 P04637:p.Asp281His SP substitution exon 1 VAR_006014 P04637:p.Asp281Val SP substitution exon 1 VAR_006015 P04637:p.Arg282Leu SP substitution exon 1 VAR_006016 P04637:p.Arg282Trp SP substitution exon 1 VAR_006017 P04637:p.Arg283Cys SP substitution exon 1 VAR_006018 P04637:p.Arg283Gly SP substitution exon 1 VAR_006019 P04637:p.Arg283His SP substitution exon 1 VAR_006020 P04637:p.Arg283Pro SP substitution exon 1 VAR_006021 P04637:p.Thr284Ala SP substitution exon 1 VAR_006022 P04637:p.Thr284Pro SP substitution exon 1 VAR_006023 P04637:p.Glu285Lys SP substitution exon 1 VAR_006024 P04637:p.Glu285Gln SP substitution exon 1 VAR_006025 P04637:p.Glu285Val SP substitution exon 1 VAR_006026 P04637:p.Glu286Ala SP substitution exon 1 VAR_006027 P04637:p.Glu286Asp SP substitution exon 1 VAR_006028 P04637:p.Glu286Gly SP substitution exon 1 VAR_006029 P04637:p.Glu286Lys SP substitution exon 1 VAR_006030 P04637:p.Glu286Gln SP substitution exon 1 VAR_006031 P04637:p.His296Pro SP substitution exon 1 VAR_006032 P04637:p.Pro300Arg SP substitution exon 1 VAR_006033 P04637:p.Pro301Leu SP substitution exon 1 VAR_006034 P04637:p.Gly302Glu SP substitution exon 1 VAR_006035 P04637:p.Gly302Val SP substitution exon 1 VAR_006036 P04637:p.Arg306Gln SP substitution exon 1 VAR_006037 P04637:p.Ala307Thr SP substitution exon 1 VAR_006038 P04637:p.Pro309Ser SP substitution exon 1 VAR_006039 P04637:p.Gly325Val SP substitution exon 1 VAR_006040 P04637:p.Gly334Val SP substitution exon 1 VAR_006041 P04637:p.Arg337Cys SP substitution exon 1 VAR_006042 P42357:p.Val439Ile SP substitution exon 1 VAR_006043 P27169:p.Leu55Met SP substitution exon 1 VAR_006044 P27169:p.Gln192Arg SP substitution exon 1 VAR_006047 P01270:p.Cys18Arg SP substitution exon 1 VAR_006048 P30086:p.Ser9Asn SP substitution exon 1 VAR_006049 P16499:p.Ser344Arg SP substitution exon 1 VAR_006050 P35913:p.His557Tyr SP substitution exon 1 VAR_006051 P35913:p.Gly576Asp SP substitution exon 1 VAR_006052 P35913:p.Leu699Arg SP substitution exon 1 VAR_006054 P02743:p.Glu155Gly SP substitution exon 1 VAR_006055 P02743:p.Ser158Gly SP substitution exon 1 VAR_006056 P13671:p.Ala119Glu SP substitution exon 1 VAR_006057 P07202:p.Ala257Ser SP substitution exon 1 VAR_006058 P07202:p.Ala373Ser SP substitution exon 1 VAR_006059 P07202:p.Ser398Thr SP substitution exon 1 VAR_006060 P07202:p.Tyr453Asp SP substitution exon 1 VAR_006061 P07202:p.Thr725Pro SP substitution exon 1 VAR_006062 P07202:p.Glu799Lys SP substitution exon 1 VAR_006063 P08237:p.Arg39Leu SP substitution exon 1 VAR_006064 P08237:p.Arg39Pro SP substitution exon 1 VAR_006065 P08237:p.Arg100Gln SP substitution exon 1 VAR_006066 P08237:p.Gly209Asp SP substitution exon 1 VAR_006070 P17858:p.Gly81Ala SP substitution exon 1 VAR_006071 P17858:p.Arg151Trp SP substitution exon 1 VAR_006072 P50053:p.Gly40Arg SP substitution exon 1 VAR_006073 P50053:p.Ala43Thr SP substitution exon 1 VAR_006074 P50053:p.Val49Ile SP substitution exon 1 VAR_006075 P50053:p.Arg159Gly SP substitution exon 1 VAR_006076 P00558:p.Leu88Pro SP substitution exon 1 VAR_006077 P00558:p.Gly158Val SP substitution exon 1 VAR_006078 P00558:p.Asp164Val SP substitution exon 1 VAR_006080 P00558:p.Arg206Pro SP substitution exon 1 VAR_006081 P00558:p.Glu252Ala SP substitution exon 1 VAR_006082 P00558:p.Val266Met SP substitution exon 1 VAR_006083 P00558:p.Asp268Asn SP substitution exon 1 VAR_006084 P00558:p.Asp285Val SP substitution exon 1 VAR_006085 P00558:p.Asp315Asn SP substitution exon 1 VAR_006086 P00558:p.Cys316Arg SP substitution exon 1 VAR_006087 P00558:p.Thr352Asn SP substitution exon 1 VAR_006088 P15259:p.Glu89Ala SP substitution exon 1 VAR_006089 P15259:p.Arg90Trp SP substitution exon 1 VAR_006090 P36871:p.Lys68Met SP substitution exon 1 VAR_006091 P36871:p.Arg221Cys SP substitution exon 1 VAR_006093 O15305:p.Val44Ala SP substitution exon 1 VAR_006094 O15305:p.Asp65Tyr SP substitution exon 1 VAR_006095 O15305:p.Asn101Lys SP substitution exon 1 VAR_006096 O15305:p.Tyr106Cys SP substitution exon 1 VAR_006097 O15305:p.Ala108Val SP substitution exon 1 VAR_006098 O15305:p.Pro113Leu SP substitution exon 1 VAR_006099 O15305:p.Gly117Arg SP substitution exon 1 VAR_006100 O15305:p.Phe119Leu SP substitution exon 1 VAR_006101 O15305:p.Arg123Gln SP substitution exon 1 VAR_006102 O15305:p.Val129Met SP substitution exon 1 VAR_006103 O15305:p.Pro131Ala SP substitution exon 1 VAR_006104 O15305:p.Ile132Thr SP substitution exon 1 VAR_006105 O15305:p.Arg141His SP substitution exon 1 VAR_006106 O15305:p.Arg162Trp SP substitution exon 1 VAR_006107 O15305:p.Gly175Arg SP substitution exon 1 VAR_006108 O15305:p.Asp188Gly SP substitution exon 1 VAR_006109 O15305:p.Gly208Ala SP substitution exon 1 VAR_006110 O15305:p.Asn216Ile SP substitution exon 1 VAR_006111 O15305:p.Asp223Glu SP substitution exon 1 VAR_006112 O15305:p.Tyr229Ser SP substitution exon 1 VAR_006113 O15305:p.Val231Met SP substitution exon 1 VAR_006114 O15305:p.Ala233Thr SP substitution exon 1 VAR_006115 O15305:p.Thr237Met SP substitution exon 1 VAR_006116 O15305:p.Arg238Pro SP substitution exon 1 VAR_006117 Q04671:p.Gly27Arg SP substitution exon 1 VAR_006118 Q04671:p.Ser86Arg SP substitution exon 1 VAR_006119 Q04671:p.Cys112Phe SP substitution exon 1 VAR_006121 Q04671:p.Ala257Asp SP substitution exon 1 VAR_006123 Q04671:p.Arg305Trp SP substitution exon 1 VAR_006124 Q04671:p.Ala368Val SP substitution exon 1 VAR_006125 Q04671:p.Phe385Ile SP substitution exon 1 VAR_006126 Q04671:p.Met395Leu SP substitution exon 1 VAR_006127 Q04671:p.Thr404Met SP substitution exon 1 VAR_006128 Q04671:p.Arg419Gln SP substitution exon 1 VAR_006129 Q04671:p.Arg419Trp SP substitution exon 1 VAR_006131 Q04671:p.Leu440His SP substitution exon 1 VAR_006132 Q04671:p.Val443Ile SP substitution exon 1 VAR_006133 Q04671:p.Met446Val SP substitution exon 1 VAR_006134 Q04671:p.Ile473Ser SP substitution exon 1 VAR_006135 Q04671:p.Asn489Asp SP substitution exon 1 VAR_006136 Q04671:p.His549Gln SP substitution exon 1 VAR_006137 Q04671:p.Thr592Ile SP substitution exon 1 VAR_006138 Q04671:p.Lys614Asn SP substitution exon 1 VAR_006139 Q04671:p.His615Arg SP substitution exon 1 VAR_006140 Q04671:p.Trp652Arg SP substitution exon 1 VAR_006141 Q04671:p.Trp679Arg SP substitution exon 1 VAR_006142 Q04671:p.Ile722Thr SP substitution exon 1 VAR_006143 Q04671:p.Ala724Pro SP substitution exon 1 VAR_006144 Q04671:p.Ser736Leu SP substitution exon 1 VAR_006145 Q04671:p.Pro743Leu SP substitution exon 1 VAR_006146 Q04671:p.Ala787Val SP substitution exon 1 VAR_006147 P05186:p.Ala33Val SP substitution exon 1 VAR_006148 P05186:p.Met62Leu SP substitution exon 1 VAR_006149 P05186:p.Arg71Cys SP substitution exon 1 VAR_006150 P05186:p.Arg71Pro SP substitution exon 1 VAR_006151 P05186:p.Ala111Thr SP substitution exon 1 VAR_006152 P05186:p.Arg136His SP substitution exon 1 VAR_006153 P05186:p.Gly162Val SP substitution exon 1 VAR_006154 P05186:p.His171Tyr SP substitution exon 1 VAR_006155 P05186:p.Ala177Thr SP substitution exon 1 VAR_006156 P05186:p.Ala179Thr SP substitution exon 1 VAR_006157 P05186:p.Glu191Gly SP substitution exon 1 VAR_006158 P05186:p.Glu191Lys SP substitution exon 1 VAR_006159 P05186:p.Cys201Tyr SP substitution exon 1 VAR_006160 P05186:p.Gln207Pro SP substitution exon 1 VAR_006161 P05186:p.Tyr263His SP substitution exon 1 VAR_006162 P05186:p.Leu289Phe SP substitution exon 1 VAR_006163 P05186:p.Asp294Ala SP substitution exon 1 VAR_006164 P05186:p.Asp306Val SP substitution exon 1 VAR_006165 P05186:p.Phe327Leu SP substitution exon 1 VAR_006166 P05186:p.Gly334Asp SP substitution exon 1 VAR_006167 P05186:p.Asp378Val SP substitution exon 1 VAR_006168 P05186:p.Val382Ile SP substitution exon 1 VAR_006169 P05186:p.Tyr436His SP substitution exon 1 VAR_006170 P05186:p.Glu476Lys SP substitution exon 1 VAR_006171 P24666:p.Gln106Arg SP substitution exon 1 VAR_006173 P22061:p.Val120Ile SP substitution exon 1 VAR_006175 Q05655:p.Phe375Ser SP substitution exon 1 VAR_006176 Q05655:p.Val593Met SP substitution exon 1 VAR_006177 P46019:p.His132Pro SP substitution exon 1 VAR_006178 P46019:p.His132Tyr SP substitution exon 1 VAR_006180 P46019:p.Arg186Cys SP substitution exon 1 VAR_006181 P46019:p.Arg186His SP substitution exon 1 VAR_006183 P46019:p.Asp299Gly SP substitution exon 1 VAR_006185 P46019:p.Thr1114Ile SP substitution exon 1 VAR_006186 P46019:p.Pro1205Leu SP substitution exon 1 VAR_006187 Q93100:p.Tyr770Cys SP substitution exon 1 VAR_006188 P51812:p.Ile38Ser SP substitution exon 1 VAR_006189 P51812:p.Gly75Val SP substitution exon 1 VAR_006190 P51812:p.Val82Phe SP substitution exon 1 VAR_006191 P51812:p.Arg114Trp SP substitution exon 1 VAR_006192 P51812:p.His127Gln SP substitution exon 1 VAR_006193 P51812:p.Asp154Tyr SP substitution exon 1 VAR_006194 P51812:p.Ala225Val SP substitution exon 1 VAR_006195 P51812:p.Ser227Ala SP substitution exon 1 VAR_006196 P51812:p.Gly431Asp SP substitution exon 1 VAR_006200 P11802:p.Arg24Cys SP substitution exon 1 VAR_006201 P11802:p.Arg24His SP substitution exon 1 VAR_006202 Q15831:p.Leu67Pro SP substitution exon 1 VAR_006204 P37023:p.Trp50Cys SP substitution exon 1 VAR_006205 P37023:p.Cys51Tyr SP substitution exon 1 VAR_006206 P37023:p.Arg67Gln SP substitution exon 1 VAR_006207 P37023:p.Cys77Trp SP substitution exon 1 VAR_006208 P37023:p.Asn96Asp SP substitution exon 1 VAR_006210 P37023:p.Ser333Ile SP substitution exon 1 VAR_006211 P37023:p.Arg374Trp SP substitution exon 1 VAR_006212 P37023:p.Met376Arg SP substitution exon 1 VAR_006213 P37023:p.Arg411Gln SP substitution exon 1 VAR_006214 P37023:p.Pro424Thr SP substitution exon 1 VAR_006215 Q15835:p.Val380Asp SP substitution exon 1 VAR_006216 Q06187:p.Leu11Pro SP substitution exon 1 VAR_006217 Q06187:p.Lys12Arg SP substitution exon 1 VAR_006218 Q06187:p.Ser14Phe SP substitution exon 1 VAR_006219 Q06187:p.Phe25Ser SP substitution exon 1 VAR_006220 Q06187:p.Arg28His SP substitution exon 1 VAR_006221 Q06187:p.Arg28Pro SP substitution exon 1 VAR_006222 Q06187:p.Thr33Pro SP substitution exon 1 VAR_006223 Q06187:p.Val64Phe SP substitution exon 1 VAR_006225 Q06187:p.Val113Asp SP substitution exon 1 VAR_006227 Q06187:p.Arg288Trp SP substitution exon 1 VAR_006228 Q06187:p.Leu295Pro SP substitution exon 1 VAR_006230 Q06187:p.Gly302Glu SP substitution exon 1 VAR_006231 Q06187:p.Arg307Gly SP substitution exon 1 VAR_006232 Q06187:p.Tyr334Ser SP substitution exon 1 VAR_006233 Q06187:p.Leu358Phe SP substitution exon 1 VAR_006234 Q06187:p.Tyr361Cys SP substitution exon 1 VAR_006235 Q06187:p.His362Gln SP substitution exon 1 VAR_006236 Q06187:p.His364Pro SP substitution exon 1 VAR_006237 Q06187:p.Asn365Tyr SP substitution exon 1 VAR_006238 Q06187:p.Ile370Met SP substitution exon 1 VAR_006239 Q06187:p.Leu408Pro SP substitution exon 1 VAR_006240 Q06187:p.Tyr418His SP substitution exon 1 VAR_006241 Q06187:p.Ile429Asn SP substitution exon 1 VAR_006242 Q06187:p.Lys430Glu SP substitution exon 1 VAR_006243 Q06187:p.Tyr476Asp SP substitution exon 1 VAR_006244 Q06187:p.Met477Arg SP substitution exon 1 VAR_006245 Q06187:p.Cys502Phe SP substitution exon 1 VAR_006246 Q06187:p.Cys502Trp SP substitution exon 1 VAR_006247 Q06187:p.Cys506Arg SP substitution exon 1 VAR_006248 Q06187:p.Cys506Tyr SP substitution exon 1 VAR_006249 Q06187:p.Met509Val SP substitution exon 1 VAR_006251 Q06187:p.Arg520Gln SP substitution exon 1 VAR_006252 Q06187:p.Asp521His SP substitution exon 1 VAR_006253 Q06187:p.Asp521Asn SP substitution exon 1 VAR_006254 Q06187:p.Arg525Pro SP substitution exon 1 VAR_006255 Q06187:p.Arg525Gln SP substitution exon 1 VAR_006256 Q06187:p.Asn526Lys SP substitution exon 1 VAR_006282 P16591:p.Leu439Val SP substitution exon 1 VAR_006283 P42685:p.Gly122Arg SP substitution exon 1 VAR_006284 P52333:p.Tyr100Cys SP substitution exon 1 VAR_006285 P08581:p.Ala320Val SP substitution exon 1 VAR_006295 P07949:p.Ser32Leu SP substitution exon 1 VAR_006296 P07949:p.Pro64Leu SP substitution exon 1 VAR_006297 P07949:p.Gly93Ser SP substitution exon 1 VAR_006298 P07949:p.Cys142Ser SP substitution exon 1 VAR_006299 P07949:p.Arg231His SP substitution exon 1 VAR_006300 P07949:p.Glu251Lys SP substitution exon 1 VAR_006301 P07949:p.Arg287Gln SP substitution exon 1 VAR_006302 P07949:p.Arg330Gln SP substitution exon 1 VAR_006303 P07949:p.Phe393Leu SP substitution exon 1 VAR_006304 P07949:p.Pro399Leu SP substitution exon 1 VAR_006305 P07949:p.Arg475Gln SP substitution exon 1 VAR_006306 P07949:p.Cys609Tyr SP substitution exon 1 VAR_006307 P07949:p.Cys609Trp SP substitution exon 1 VAR_006308 P07949:p.Cys611Trp SP substitution exon 1 VAR_006309 P07949:p.Cys611Tyr SP substitution exon 1 VAR_006310 P07949:p.Cys618Gly SP substitution exon 1 VAR_006311 P07949:p.Cys618Arg SP substitution exon 1 VAR_006312 P07949:p.Cys618Phe SP substitution exon 1 VAR_006313 P07949:p.Cys618Ser SP substitution exon 1 VAR_006314 P07949:p.Cys618Tyr SP substitution exon 1 VAR_006315 P07949:p.Cys620Gly SP substitution exon 1 VAR_006316 P07949:p.Cys620Arg SP substitution exon 1 VAR_006317 P07949:p.Cys620Ser SP substitution exon 1 VAR_006318 P07949:p.Cys620Phe SP substitution exon 1 VAR_006319 P07949:p.Cys620Tyr SP substitution exon 1 VAR_006320 P07949:p.Cys630Phe SP substitution exon 1 VAR_006321 P07949:p.Asp631Gly SP substitution exon 1 VAR_006323 P07949:p.Cys634Gly SP substitution exon 1 VAR_006324 P07949:p.Cys634Phe SP substitution exon 1 VAR_006325 P07949:p.Cys634Tyr SP substitution exon 1 VAR_006326 P07949:p.Cys634Arg SP substitution exon 1 VAR_006327 P07949:p.Cys634Ser SP substitution exon 1 VAR_006328 P07949:p.Cys634Trp SP substitution exon 1 VAR_006331 P07949:p.Ser690Pro SP substitution exon 1 VAR_006332 P07949:p.Gly691Ser SP substitution exon 1 VAR_006334 P07949:p.Ser767Arg SP substitution exon 1 VAR_006335 P07949:p.Glu768Asp SP substitution exon 1 VAR_006336 P07949:p.Val804Leu SP substitution exon 1 VAR_006337 P07949:p.Val804Met SP substitution exon 1 VAR_006338 P07949:p.Arg873Gln SP substitution exon 1 VAR_006339 P07949:p.Phe893Leu SP substitution exon 1 VAR_006340 P07949:p.Arg897Gln SP substitution exon 1 VAR_006341 P07949:p.Lys907Glu SP substitution exon 1 VAR_006342 P07949:p.Met918Thr SP substitution exon 1 VAR_006343 P07949:p.Glu921Lys SP substitution exon 1 VAR_006345 P07949:p.Thr946Met SP substitution exon 1 VAR_006346 P07949:p.Arg972Gly SP substitution exon 1 VAR_006347 P07949:p.Pro973Leu SP substitution exon 1 VAR_006348 P07949:p.Met980Thr SP substitution exon 1 VAR_006349 P07949:p.Arg982Cys SP substitution exon 1 VAR_006350 Q04912:p.Arg322Gln SP substitution exon 1 VAR_006355 Q02809:p.Trp612Cys SP substitution exon 1 VAR_006356 Q02809:p.Gly678Arg SP substitution exon 1 VAR_006357 O15228:p.Arg211Cys SP substitution exon 1 VAR_006358 O15228:p.Arg211His SP substitution exon 1 VAR_006359 Q01453:p.His12Gln SP substitution exon 1 VAR_006360 Q01453:p.Leu16Pro SP substitution exon 1 VAR_006361 Q01453:p.Leu19Pro SP substitution exon 1 VAR_006362 Q01453:p.Met69Lys SP substitution exon 1 VAR_006363 Q01453:p.Ser72Leu SP substitution exon 1 VAR_006364 Q01453:p.Ser72Pro SP substitution exon 1 VAR_006365 Q01453:p.Ser72Trp SP substitution exon 1 VAR_006366 Q01453:p.Ser76Ile SP substitution exon 1 VAR_006367 Q01453:p.Ser79Cys SP substitution exon 1 VAR_006368 Q01453:p.Ser79Pro SP substitution exon 1 VAR_006369 Q01453:p.Leu80Pro SP substitution exon 1 VAR_006371 Q01453:p.Gly100Glu SP substitution exon 1 VAR_006372 Q01453:p.Gly100Arg SP substitution exon 1 VAR_006373 Q01453:p.Leu105Arg SP substitution exon 1 VAR_006374 Q01453:p.Gly107Val SP substitution exon 1 VAR_006375 Q01453:p.Thr118Met SP substitution exon 1 VAR_006376 Q01453:p.Ile137Val SP substitution exon 1 VAR_006377 Q01453:p.Leu147Arg SP substitution exon 1 VAR_006378 Q01453:p.Gly150Cys SP substitution exon 1 VAR_006379 Q01453:p.Gly150Asp SP substitution exon 1 VAR_006380 P45880:p.Ala24Val SP substitution exon 1 VAR_006382 P10082:p.Thr72Arg SP substitution exon 1 VAR_006384 P30154:p.Gly90Asp SP substitution exon 1 VAR_006385 Q05209:p.Lys61Arg SP substitution exon 1 VAR_006387 Q13496:p.Arg69Cys SP substitution exon 1 VAR_006388 Q13496:p.Leu70Phe SP substitution exon 1 VAR_006389 Q13496:p.Leu87Pro SP substitution exon 1 VAR_006390 Q13496:p.Arg184Gly SP substitution exon 1 VAR_006391 Q13496:p.Asn189Ser SP substitution exon 1 VAR_006392 Q13496:p.Tyr198Asn SP substitution exon 1 VAR_006393 Q13496:p.Pro205Leu SP substitution exon 1 VAR_006394 Q13496:p.Ser229Pro SP substitution exon 1 VAR_006395 Q13496:p.Arg241Cys SP substitution exon 1 VAR_006396 Q13496:p.Arg241Leu SP substitution exon 1 VAR_006397 Q13496:p.Met317Arg SP substitution exon 1 VAR_006398 Q13496:p.Ser376Asn SP substitution exon 1 VAR_006399 Q13496:p.Gly378Arg SP substitution exon 1 VAR_006400 Q13496:p.Tyr397Cys SP substitution exon 1 VAR_006401 Q13496:p.Gly402Ala SP substitution exon 1 VAR_006402 Q13496:p.Glu404Lys SP substitution exon 1 VAR_006403 Q13496:p.Leu406Pro SP substitution exon 1 VAR_006404 Q13496:p.Arg421Gln SP substitution exon 1 VAR_006406 Q13496:p.Asp431Asn SP substitution exon 1 VAR_006407 Q13496:p.Asp433Asn SP substitution exon 1 VAR_006408 Q13496:p.His469Pro SP substitution exon 1 VAR_006411 P26885:p.Ala25Thr SP substitution exon 1 VAR_006412 P26885:p.Cys97Tyr SP substitution exon 1 VAR_006413 P49768:p.Ala79Val SP substitution exon 1 VAR_006414 P49768:p.Val82Leu SP substitution exon 1 VAR_006415 P49768:p.Val96Phe SP substitution exon 1 VAR_006416 P49768:p.Tyr115Cys SP substitution exon 1 VAR_006417 P49768:p.Tyr115His SP substitution exon 1 VAR_006418 P49768:p.Glu120Asp SP substitution exon 1 VAR_006419 P49768:p.Glu120Lys SP substitution exon 1 VAR_006420 P49768:p.Met139Ile SP substitution exon 1 VAR_006421 P49768:p.Met139Thr SP substitution exon 1 VAR_006422 P49768:p.Met139Val SP substitution exon 1 VAR_006423 P49768:p.Ile143Phe SP substitution exon 1 VAR_006424 P49768:p.Ile143Thr SP substitution exon 1 VAR_006425 P49768:p.Met146Ile SP substitution exon 1 VAR_006426 P49768:p.Met146Leu SP substitution exon 1 VAR_006427 P49768:p.Met146Val SP substitution exon 1 VAR_006428 P49768:p.His163Arg SP substitution exon 1 VAR_006429 P49768:p.His163Tyr SP substitution exon 1 VAR_006430 P49768:p.Ser169Leu SP substitution exon 1 VAR_006431 P49768:p.Ser169Pro SP substitution exon 1 VAR_006432 P49768:p.Leu171Pro SP substitution exon 1 VAR_006433 P49768:p.Gly209Val SP substitution exon 1 VAR_006434 P49768:p.Ile213Thr SP substitution exon 1 VAR_006435 P49768:p.Ala231Thr SP substitution exon 1 VAR_006436 P49768:p.Ala231Val SP substitution exon 1 VAR_006437 P49768:p.Met233Thr SP substitution exon 1 VAR_006438 P49768:p.Leu235Pro SP substitution exon 1 VAR_006439 P49768:p.Ala246Glu SP substitution exon 1 VAR_006440 P49768:p.Leu250Ser SP substitution exon 1 VAR_006441 P49768:p.Ala260Val SP substitution exon 1 VAR_006442 P49768:p.Leu262Phe SP substitution exon 1 VAR_006443 P49768:p.Cys263Arg SP substitution exon 1 VAR_006444 P49768:p.Pro264Leu SP substitution exon 1 VAR_006445 P49768:p.Pro267Ser SP substitution exon 1 VAR_006446 P49768:p.Pro267Thr SP substitution exon 1 VAR_006447 P49768:p.Arg269Gly SP substitution exon 1 VAR_006448 P49768:p.Arg269His SP substitution exon 1 VAR_006449 P49768:p.Arg278Thr SP substitution exon 1 VAR_006450 P49768:p.Glu280Ala SP substitution exon 1 VAR_006451 P49768:p.Glu280Gly SP substitution exon 1 VAR_006452 P49768:p.Ala285Val SP substitution exon 1 VAR_006453 P49768:p.Leu286Val SP substitution exon 1 VAR_006454 P49768:p.Glu318Gly SP substitution exon 1 VAR_006455 P49768:p.Gly378Glu SP substitution exon 1 VAR_006456 P49768:p.Gly384Ala SP substitution exon 1 VAR_006457 P49768:p.Leu392Val SP substitution exon 1 VAR_006458 P49768:p.Cys410Tyr SP substitution exon 1 VAR_006459 P49768:p.Ala426Pro SP substitution exon 1 VAR_006460 P49768:p.Pro436Gln SP substitution exon 1 VAR_006461 P49810:p.Arg62His SP substitution exon 1 VAR_006462 P49810:p.Asn141Ile SP substitution exon 1 VAR_006463 P49810:p.Met239Val SP substitution exon 1 VAR_006464 P04156:p.Pro102Leu SP substitution exon 1 VAR_006465 P04156:p.Pro105Leu SP substitution exon 1 VAR_006466 P04156:p.Ala117Val SP substitution exon 1 VAR_006467 P04156:p.Met129Val SP substitution exon 1 VAR_006468 P04156:p.Asn171Ser SP substitution exon 1 VAR_006469 P04156:p.Asp178Asn SP substitution exon 1 VAR_006470 P04156:p.Val180Ile SP substitution exon 1 VAR_006471 P04156:p.Thr183Ala SP substitution exon 1 VAR_006472 P04156:p.Phe198Ser SP substitution exon 1 VAR_006473 P04156:p.Glu200Lys SP substitution exon 1 VAR_006474 P04156:p.Arg208His SP substitution exon 1 VAR_006475 P04156:p.Val210Ile SP substitution exon 1 VAR_006476 P04156:p.Gln217Arg SP substitution exon 1 VAR_006477 P04156:p.Glu219Lys SP substitution exon 1 VAR_006479 P35232:p.Val88Ala SP substitution exon 1 VAR_006480 P35232:p.Arg105His SP substitution exon 1 VAR_006490 P16070:p.Arg46Pro SP substitution exon 1 VAR_006491 P08311:p.Asn125Ser SP substitution exon 1 VAR_006497 P08709:p.Arg139Lys SP substitution exon 1 VAR_006498 P08709:p.Arg139Gln SP substitution exon 1 VAR_006499 P08709:p.Arg139Trp SP substitution exon 1 VAR_006500 P08709:p.Gly157Ser SP substitution exon 1 VAR_006501 P08709:p.Gly157Cys SP substitution exon 1 VAR_006502 P08709:p.Gln160Arg SP substitution exon 1 VAR_006503 P08709:p.Pro194Thr SP substitution exon 1 VAR_006504 P08709:p.Lys197Glu SP substitution exon 1 VAR_006505 P08709:p.Arg212Gln SP substitution exon 1 VAR_006506 P08709:p.Cys238Tyr SP substitution exon 1 VAR_006507 P08709:p.Arg283Trp SP substitution exon 1 VAR_006508 P08709:p.Ala304Val SP substitution exon 1 VAR_006509 P08709:p.Arg307His SP substitution exon 1 VAR_006510 P08709:p.Glu325Lys SP substitution exon 1 VAR_006511 P08709:p.Ala354Val SP substitution exon 1 VAR_006512 P08709:p.Met358Ile SP substitution exon 1 VAR_006513 P08709:p.Met358Val SP substitution exon 1 VAR_006514 P08709:p.Arg364Gln SP substitution exon 1 VAR_006515 P08709:p.Cys370Phe SP substitution exon 1 VAR_006516 P08709:p.Gly402Arg SP substitution exon 1 VAR_006517 P08709:p.Gly402Glu SP substitution exon 1 VAR_006518 P08709:p.Arg413Gln SP substitution exon 1 VAR_006519 P08709:p.Thr419Met SP substitution exon 1 VAR_006520 P00740:p.Ile7Phe SP substitution exon 1 VAR_006521 P00740:p.Ile17Asn SP substitution exon 1 VAR_006522 P00740:p.Cys28Arg SP substitution exon 1 VAR_006523 P00740:p.Val30Ile SP substitution exon 1 VAR_006524 P00740:p.Arg43Gln SP substitution exon 1 VAR_006525 P00740:p.Arg43Leu SP substitution exon 1 VAR_006526 P00740:p.Arg43Trp SP substitution exon 1 VAR_006527 P00740:p.Lys45Asn SP substitution exon 1 VAR_006528 P00740:p.Arg46Ser SP substitution exon 1 VAR_006529 P00740:p.Arg46Thr SP substitution exon 1 VAR_006530 P00740:p.Asn48Ile SP substitution exon 1 VAR_006531 P00740:p.Ser49Pro SP substitution exon 1 VAR_006532 P00740:p.Glu53Ala SP substitution exon 1 VAR_006533 P00740:p.Glu54Gly SP substitution exon 1 VAR_006534 P00740:p.Phe55Cys SP substitution exon 1 VAR_006535 P00740:p.Gly58Ala SP substitution exon 1 VAR_006536 P00740:p.Gly58Arg SP substitution exon 1 VAR_006538 P00740:p.Glu66Val SP substitution exon 1 VAR_006539 P00740:p.Glu67Lys SP substitution exon 1 VAR_006540 P00740:p.Phe71Ser SP substitution exon 1 VAR_006541 P00740:p.Glu73Lys SP substitution exon 1 VAR_006542 P00740:p.Glu73Val SP substitution exon 1 VAR_006543 P00740:p.Tyr91Cys SP substitution exon 1 VAR_006544 P00740:p.Asp93Gly SP substitution exon 1 VAR_006545 P00740:p.Gln96Pro SP substitution exon 1 VAR_006546 P00740:p.Cys97Ser SP substitution exon 1 VAR_006547 P00740:p.Pro101Arg SP substitution exon 1 VAR_006548 P00740:p.Cys102Arg SP substitution exon 1 VAR_006549 P00740:p.Gly106Ser SP substitution exon 1 VAR_006550 P00740:p.Cys108Ser SP substitution exon 1 VAR_006551 P00740:p.Asp110Asn SP substitution exon 1 VAR_006552 P00740:p.Ile112Ser SP substitution exon 1 VAR_006553 P00740:p.Asn113Lys SP substitution exon 1 VAR_006554 P00740:p.Tyr115Cys SP substitution exon 1 VAR_006555 P00740:p.Cys119Phe SP substitution exon 1 VAR_006556 P00740:p.Cys119Arg SP substitution exon 1 VAR_006557 P00740:p.Gly125Glu SP substitution exon 1 VAR_006558 P00740:p.Gly125Val SP substitution exon 1 VAR_006560 P00740:p.Ile136Thr SP substitution exon 1 VAR_006561 P00740:p.Gly139Asp SP substitution exon 1 VAR_006562 P00740:p.Gly139Ser SP substitution exon 1 VAR_006563 P00740:p.Cys155Phe SP substitution exon 1 VAR_006564 P00740:p.Gly160Glu SP substitution exon 1 VAR_006565 P00740:p.Gln167His SP substitution exon 1 VAR_006566 P00740:p.Cys178Arg SP substitution exon 1 VAR_006567 P00740:p.Cys178Trp SP substitution exon 1 VAR_006568 P00740:p.Arg191His SP substitution exon 1 VAR_006569 P00740:p.Arg191Cys SP substitution exon 1 VAR_006570 P00740:p.Arg226Trp SP substitution exon 1 VAR_006571 P00740:p.Arg226Gly SP substitution exon 1 VAR_006572 P00740:p.Arg226Gln SP substitution exon 1 VAR_006573 P00740:p.Val227Asp SP substitution exon 1 VAR_006574 P00740:p.Val228Leu SP substitution exon 1 VAR_006575 P00740:p.Gln241His SP substitution exon 1 VAR_006576 P00740:p.Gly253Glu SP substitution exon 1 VAR_006577 P00740:p.Gly253Arg SP substitution exon 1 VAR_006578 P00740:p.Ala265Thr SP substitution exon 1 VAR_006579 P00740:p.Ala279Thr SP substitution exon 1 VAR_006580 P00740:p.Asn283Asp SP substitution exon 1 VAR_006582 P00740:p.Arg294Gly SP substitution exon 1 VAR_006583 P00740:p.Arg294Gln SP substitution exon 1 VAR_006584 P00740:p.His302Arg SP substitution exon 1 VAR_006585 P00740:p.Ile316Phe SP substitution exon 1 VAR_006586 P00740:p.Leu321Gln SP substitution exon 1 VAR_006587 P00740:p.Pro333His SP substitution exon 1 VAR_006588 P00740:p.Thr342Lys SP substitution exon 1 VAR_006589 P00740:p.Thr342Met SP substitution exon 1 VAR_006590 P00740:p.Gly351Asp SP substitution exon 1 VAR_006591 P00740:p.Trp356Cys SP substitution exon 1 VAR_006592 P00740:p.Gly357Glu SP substitution exon 1 VAR_006593 P00740:p.Lys362Glu SP substitution exon 1 VAR_006594 P00740:p.Gly363Trp SP substitution exon 1 VAR_006595 P00740:p.Ala366Asp SP substitution exon 1 VAR_006596 P00740:p.Arg379Gly SP substitution exon 1 VAR_006597 P00740:p.Arg379Gln SP substitution exon 1 VAR_006598 P00740:p.Cys382Tyr SP substitution exon 1 VAR_006599 P00740:p.Lys387Glu SP substitution exon 1 VAR_006600 P00740:p.Ile390Phe SP substitution exon 1 VAR_006601 P00740:p.Met394Lys SP substitution exon 1 VAR_006602 P00740:p.Cys396Ser SP substitution exon 1 VAR_006603 P00740:p.Arg404Thr SP substitution exon 1 VAR_006604 P00740:p.Cys407Ser SP substitution exon 1 VAR_006605 P00740:p.Gly413Arg SP substitution exon 1 VAR_006606 P00740:p.Val419Glu SP substitution exon 1 VAR_006607 P00740:p.Phe424Val SP substitution exon 1 VAR_006608 P00740:p.Thr426Pro SP substitution exon 1 VAR_006609 P00740:p.Ser430Thr SP substitution exon 1 VAR_006610 P00740:p.Trp431Gly SP substitution exon 1 VAR_006611 P00740:p.Trp431Arg SP substitution exon 1 VAR_006612 P00740:p.Gly432Ser SP substitution exon 1 VAR_006613 P00740:p.Gly432Val SP substitution exon 1 VAR_006614 P00740:p.Glu433Ala SP substitution exon 1 VAR_006615 P00740:p.Glu433Lys SP substitution exon 1 VAR_006616 P00740:p.Ala436Val SP substitution exon 1 VAR_006618 P00740:p.Arg449Gln SP substitution exon 1 VAR_006619 P00740:p.Arg449Trp SP substitution exon 1 VAR_006620 P00740:p.Tyr450Cys SP substitution exon 1 VAR_006621 P00740:p.Ile454Thr SP substitution exon 1 VAR_006622 P03951:p.Phe301Leu SP substitution exon 1 VAR_006623 P00748:p.Arg372Pro SP substitution exon 1 VAR_006624 P00748:p.Cys590Ser SP substitution exon 1 VAR_006625 P06870:p.Glu145Gln SP substitution exon 1 VAR_006626 P06870:p.Lys186Glu SP substitution exon 1 VAR_006627 P00747:p.Val374Phe SP substitution exon 1 VAR_006628 P00747:p.Ser591Pro SP substitution exon 1 VAR_006629 P00747:p.Ala620Thr SP substitution exon 1 VAR_006630 P00747:p.Gly751Arg SP substitution exon 1 VAR_006631 P26927:p.Cys13Tyr SP substitution exon 1 VAR_006632 P26927:p.Cys212Phe SP substitution exon 1 VAR_006634 P04070:p.Trp14Gly SP substitution exon 1 VAR_006635 P04070:p.Arg32Cys SP substitution exon 1 VAR_006636 P04070:p.Arg38Trp SP substitution exon 1 VAR_006637 P04070:p.Arg42His SP substitution exon 1 VAR_006638 P04070:p.Arg42Cys SP substitution exon 1 VAR_006639 P04070:p.Ala43Thr SP substitution exon 1 VAR_006640 P04070:p.Glu49Asp SP substitution exon 1 VAR_006641 P04070:p.Arg51Cys SP substitution exon 1 VAR_006642 P04070:p.Arg57Trp SP substitution exon 1 VAR_006643 P04070:p.Arg57Gly SP substitution exon 1 VAR_006644 P04070:p.Arg57Gln SP substitution exon 1 VAR_006645 P04070:p.Glu62Ala SP substitution exon 1 VAR_006646 P04070:p.Val76Met SP substitution exon 1 VAR_006647 P04070:p.Gly89Cys SP substitution exon 1 VAR_006648 P04070:p.His108Asn SP substitution exon 1 VAR_006649 P04070:p.Gly109Arg SP substitution exon 1 VAR_006651 P04070:p.Gly114Arg SP substitution exon 1 VAR_006652 P04070:p.Phe118Leu SP substitution exon 1 VAR_006656 P04070:p.Gly145Arg SP substitution exon 1 VAR_006657 P04070:p.Cys147Tyr SP substitution exon 1 VAR_006658 P04070:p.His149Pro SP substitution exon 1 VAR_006659 P04070:p.Ser161Arg SP substitution exon 1 VAR_006660 P04070:p.Ala178Pro SP substitution exon 1 VAR_006661 P04070:p.Cys183Arg SP substitution exon 1 VAR_006662 P04070:p.Arg189Trp SP substitution exon 1 VAR_006663 P04070:p.Arg194Cys SP substitution exon 1 VAR_006664 P04070:p.Pro210Leu SP substitution exon 1 VAR_006665 P04070:p.Arg211Trp SP substitution exon 1 VAR_006666 P04070:p.Arg211Gln SP substitution exon 1 VAR_006667 P04070:p.Arg220Pro SP substitution exon 1 VAR_006668 P04070:p.Arg220Trp SP substitution exon 1 VAR_006669 P04070:p.Arg220Gln SP substitution exon 1 VAR_006670 P04070:p.Gln226His SP substitution exon 1 VAR_006671 P04070:p.Ile243Thr SP substitution exon 1 VAR_006672 P04070:p.His244Tyr SP substitution exon 1 VAR_006673 P04070:p.His253Gln SP substitution exon 1 VAR_006674 P04070:p.Leu265Phe SP substitution exon 1 VAR_006675 P04070:p.Arg271Gln SP substitution exon 1 VAR_006676 P04070:p.Arg271Trp SP substitution exon 1 VAR_006677 P04070:p.Arg272Cys SP substitution exon 1 VAR_006679 P04070:p.Pro289Leu SP substitution exon 1 VAR_006680 P04070:p.Ser294Asn SP substitution exon 1 VAR_006681 P04070:p.Asn298Asp SP substitution exon 1 VAR_006682 P04070:p.Ala301Thr SP substitution exon 1 VAR_006683 P04070:p.Ala301Val SP substitution exon 1 VAR_006684 P04070:p.Ala309Thr SP substitution exon 1 VAR_006685 P04070:p.Ser312Leu SP substitution exon 1 VAR_006686 P04070:p.Ser312Pro SP substitution exon 1 VAR_006687 P04070:p.Pro321Leu SP substitution exon 1 VAR_006688 P04070:p.Gly324Arg SP substitution exon 1 VAR_006689 P04070:p.Arg328Cys SP substitution exon 1 VAR_006690 P04070:p.Arg328His SP substitution exon 1 VAR_006691 P04070:p.Gly334Ser SP substitution exon 1 VAR_006692 P04070:p.Thr340Met SP substitution exon 1 VAR_006693 P04070:p.Gly343Asp SP substitution exon 1 VAR_006695 P04070:p.Val367Ala SP substitution exon 1 VAR_006696 P04070:p.Pro369Leu SP substitution exon 1 VAR_006697 P04070:p.Met385Ile SP substitution exon 1 VAR_006698 P04070:p.Ala388Thr SP substitution exon 1 VAR_006699 P04070:p.Ala388Val SP substitution exon 1 VAR_006700 P04070:p.Gly392Arg SP substitution exon 1 VAR_006701 P04070:p.Arg394Trp SP substitution exon 1 VAR_006702 P04070:p.Asp401Asn SP substitution exon 1 VAR_006703 P04070:p.Gly418Asp SP substitution exon 1 VAR_006704 P04070:p.Gly423Ser SP substitution exon 1 VAR_006705 P04070:p.Cys426Tyr SP substitution exon 1 VAR_006706 P04070:p.Gly433Ser SP substitution exon 1 VAR_006707 P04070:p.Thr436Asn SP substitution exon 1 VAR_006708 P04070:p.Tyr441His SP substitution exon 1 VAR_006709 P04070:p.Trp444Cys SP substitution exon 1 VAR_006710 P04070:p.Ile445Met SP substitution exon 1 VAR_006711 P00734:p.Glu200Lys SP substitution exon 1 VAR_006712 P00734:p.Arg314Cys SP substitution exon 1 VAR_006713 P00734:p.Arg314His SP substitution exon 1 VAR_006714 P00734:p.Met380Thr SP substitution exon 1 VAR_006715 P00734:p.Arg425Cys SP substitution exon 1 VAR_006716 P00734:p.Arg431His SP substitution exon 1 VAR_006717 P00734:p.Arg461Trp SP substitution exon 1 VAR_006718 P00734:p.Glu509Ala SP substitution exon 1 VAR_006719 P00734:p.Gly601Val SP substitution exon 1 VAR_006720 P07477:p.Asn29Ile SP substitution exon 1 VAR_006721 P07477:p.Arg122His SP substitution exon 1 VAR_006722 P00749:p.Pro141Leu SP substitution exon 1 VAR_006724 P07858:p.Leu26Val SP substitution exon 1 VAR_006725 P43235:p.Gly146Arg SP substitution exon 1 VAR_006726 P43235:p.Leu309Pro SP substitution exon 1 VAR_006727 P15144:p.Asp242Tyr SP substitution exon 1 VAR_006728 P15144:p.Leu243Pro SP substitution exon 1 VAR_006729 P09237:p.Arg77His SP substitution exon 1 VAR_006730 P22894:p.Lys87Glu SP substitution exon 1 VAR_006731 P23276:p.Arg180Pro SP substitution exon 1 VAR_006732 P23276:p.Thr193Met SP substitution exon 1 VAR_006733 P23276:p.Arg281Trp SP substitution exon 1 VAR_006734 P23276:p.Arg281Gln SP substitution exon 1 VAR_006735 P23276:p.Val302Ala SP substitution exon 1 VAR_006736 P23276:p.Glu494Val SP substitution exon 1 VAR_006737 P23276:p.Leu597Pro SP substitution exon 1 VAR_006738 P78562:p.Cys77Ser SP substitution exon 1 VAR_006739 P78562:p.Cys85Tyr SP substitution exon 1 VAR_006740 P78562:p.Leu138Pro SP substitution exon 1 VAR_006741 P78562:p.Arg166Cys SP substitution exon 1 VAR_006742 P78562:p.Phe252Ser SP substitution exon 1 VAR_006743 P78562:p.Met253Ile SP substitution exon 1 VAR_006744 P78562:p.Pro534Leu SP substitution exon 1 VAR_006745 P78562:p.Gly579Arg SP substitution exon 1 VAR_006746 P78562:p.Gly579Val SP substitution exon 1 VAR_006747 P07741:p.Asp65Val SP substitution exon 1 VAR_006748 P07741:p.Leu110Pro SP substitution exon 1 VAR_006749 P07741:p.Met136Thr SP substitution exon 1 VAR_006750 P00492:p.Gly7Asp SP substitution exon 1 VAR_006751 P00492:p.Val8Gly SP substitution exon 1 VAR_006752 P00492:p.Gly16Asp SP substitution exon 1 VAR_006753 P00492:p.Gly16Ser SP substitution exon 1 VAR_006754 P00492:p.Asp20Val SP substitution exon 1 VAR_006755 P00492:p.Cys23Trp SP substitution exon 1 VAR_006756 P00492:p.Leu41Pro SP substitution exon 1 VAR_006757 P00492:p.Ile42Phe SP substitution exon 1 VAR_006758 P00492:p.Ile42Thr SP substitution exon 1 VAR_006760 P00492:p.Arg45Lys SP substitution exon 1 VAR_006761 P00492:p.Arg48His SP substitution exon 1 VAR_006762 P00492:p.Ala50Val SP substitution exon 1 VAR_006763 P00492:p.Ala50Pro SP substitution exon 1 VAR_006764 P00492:p.Arg51Gly SP substitution exon 1 VAR_006765 P00492:p.Arg51Pro SP substitution exon 1 VAR_006766 P00492:p.Asp52Gly SP substitution exon 1 VAR_006767 P00492:p.Val53Ala SP substitution exon 1 VAR_006768 P00492:p.Val53Met SP substitution exon 1 VAR_006769 P00492:p.Met54Leu SP substitution exon 1 VAR_006770 P00492:p.Met57Thr SP substitution exon 1 VAR_006771 P00492:p.Gly58Arg SP substitution exon 1 VAR_006772 P00492:p.His61Arg SP substitution exon 1 VAR_006773 P00492:p.Gly70Glu SP substitution exon 1 VAR_006774 P00492:p.Gly71Arg SP substitution exon 1 VAR_006775 P00492:p.Phe74Leu SP substitution exon 1 VAR_006776 P00492:p.Leu78Val SP substitution exon 1 VAR_006777 P00492:p.Asp80Val SP substitution exon 1 VAR_006778 P00492:p.Ser104Arg SP substitution exon 1 VAR_006779 P00492:p.Ser110Leu SP substitution exon 1 VAR_006780 P00492:p.Val130Asp SP substitution exon 1 VAR_006781 P00492:p.Leu131Ser SP substitution exon 1 VAR_006782 P00492:p.Ile132Met SP substitution exon 1 VAR_006783 P00492:p.Ile132Thr SP substitution exon 1 VAR_006784 P00492:p.Asp135Gly SP substitution exon 1 VAR_006785 P00492:p.Met143Lys SP substitution exon 1 VAR_006787 P00492:p.Ala161Ser SP substitution exon 1 VAR_006788 P00492:p.Ser162Arg SP substitution exon 1 VAR_006789 P00492:p.Thr168Ile SP substitution exon 1 VAR_006790 P00492:p.Pro176Leu SP substitution exon 1 VAR_006791 P00492:p.Asp177Val SP substitution exon 1 VAR_006792 P00492:p.Asp177Tyr SP substitution exon 1 VAR_006795 P00492:p.Val188Ala SP substitution exon 1 VAR_006796 P00492:p.Ile183Thr SP substitution exon 1 VAR_006797 P00492:p.Asp194Glu SP substitution exon 1 VAR_006798 P00492:p.Asp194Asn SP substitution exon 1 VAR_006799 P00492:p.Tyr195Cys SP substitution exon 1 VAR_006800 P00492:p.Phe199Val SP substitution exon 1 VAR_006801 P00492:p.Asp201Gly SP substitution exon 1 VAR_006802 P00492:p.Asp201Asn SP substitution exon 1 VAR_006803 P00492:p.Asp201Tyr SP substitution exon 1 VAR_006804 P00492:p.His204Asp SP substitution exon 1 VAR_006805 P00492:p.His204Arg SP substitution exon 1 VAR_006806 P00492:p.Cys206Tyr SP substitution exon 1 VAR_006807 P11172:p.Arg96Gly SP substitution exon 1 VAR_006808 P11172:p.Val109Gly SP substitution exon 1 VAR_006809 P11172:p.Gly213Ala SP substitution exon 1 VAR_006811 O60832:p.Phe36Val SP substitution exon 1 VAR_006813 O60832:p.Pro40Arg SP substitution exon 1 VAR_006814 O60832:p.Leu72Tyr SP substitution exon 1 VAR_006815 O60832:p.Gly402Glu SP substitution exon 1 VAR_006816 Q03393:p.Arg16Cys SP substitution exon 1 VAR_006817 Q03393:p.Arg25Gly SP substitution exon 1 VAR_006818 Q03393:p.Arg25Gln SP substitution exon 1 VAR_006819 Q03393:p.Glu35Gly SP substitution exon 1 VAR_006820 Q03393:p.Asn36Lys SP substitution exon 1 VAR_006821 Q03393:p.Asn52Ser SP substitution exon 1 VAR_006822 Q03393:p.Val56Met SP substitution exon 1 VAR_006824 Q03393:p.Thr67Met SP substitution exon 1 VAR_006825 Q03393:p.Val70Asp SP substitution exon 1 VAR_006826 Q03393:p.Pro87Leu SP substitution exon 1 VAR_006827 Q03393:p.Pro87Ser SP substitution exon 1 VAR_006828 Q03393:p.Asp96Asn SP substitution exon 1 VAR_006829 Q03393:p.Phe100Val SP substitution exon 1 VAR_006830 Q03393:p.Thr106Met SP substitution exon 1 VAR_006831 Q03393:p.Ile114Val SP substitution exon 1 VAR_006832 Q03393:p.Lys129Glu SP substitution exon 1 VAR_006833 Q03393:p.Asp136Val SP substitution exon 1 VAR_006834 P31327:p.Thr344Ala SP substitution exon 1 VAR_006835 P31327:p.Thr544Met SP substitution exon 1 VAR_006836 P01112:p.Gly12Val SP substitution exon 1 VAR_006837 P01112:p.Gly12Ser SP substitution exon 1 VAR_006838 P01112:p.Gln61Leu SP substitution exon 1 VAR_006839 P01116:p.Gly12Cys SP substitution exon 1 VAR_006840 P01116:p.Gly12Val SP substitution exon 1 VAR_006841 P01116:p.Gln61His SP substitution exon 1 VAR_006845 P01111:p.Gly13Arg SP substitution exon 1 VAR_006846 P01111:p.Gln61Lys SP substitution exon 1 VAR_006847 P01111:p.Gln61Arg SP substitution exon 1 VAR_006848 P62070:p.Gln72Leu SP substitution exon 1 VAR_006849 Q14088:p.Met102Thr SP substitution exon 1 VAR_006853 P23942:p.Arg13Trp SP substitution exon 1 VAR_006854 P23942:p.Ile32Val SP substitution exon 1 VAR_006855 P23942:p.Leu45Phe SP substitution exon 1 VAR_006857 P23942:p.Gly68Arg SP substitution exon 1 VAR_006859 P23942:p.Leu126Arg SP substitution exon 1 VAR_006860 P23942:p.Arg142Trp SP substitution exon 1 VAR_006861 P23942:p.Lys153Arg SP substitution exon 1 VAR_006863 P23942:p.Asp157Asn SP substitution exon 1 VAR_006864 P23942:p.Cys165Tyr SP substitution exon 1 VAR_006865 P23942:p.Gly167Asp SP substitution exon 1 VAR_006866 P23942:p.Arg172Gly SP substitution exon 1 VAR_006867 P23942:p.Arg172Gln SP substitution exon 1 VAR_006868 P23942:p.Arg172Trp SP substitution exon 1 VAR_006869 P23942:p.Asp173Val SP substitution exon 1 VAR_006870 P23942:p.Tyr184Ser SP substitution exon 1 VAR_006871 P23942:p.Leu185Pro SP substitution exon 1 VAR_006873 P23942:p.Gly208Asp SP substitution exon 1 VAR_006874 P23942:p.Pro210Arg SP substitution exon 1 VAR_006875 P23942:p.Pro210Ser SP substitution exon 1 VAR_006876 P23942:p.Phe211Leu SP substitution exon 1 VAR_006877 P23942:p.Ser212Gly SP substitution exon 1 VAR_006878 P23942:p.Ser212Thr SP substitution exon 1 VAR_006879 P23942:p.Cys213Arg SP substitution exon 1 VAR_006880 P23942:p.Cys214Ser SP substitution exon 1 VAR_006881 P23942:p.Pro216Leu SP substitution exon 1 VAR_006882 P23942:p.Pro216Ser SP substitution exon 1 VAR_006883 P23942:p.Pro219Arg SP substitution exon 1 VAR_006885 P23942:p.Arg220Gln SP substitution exon 1 VAR_006886 P23942:p.Arg220Trp SP substitution exon 1 VAR_006887 P23942:p.Asn244Lys SP substitution exon 1 VAR_006888 P23942:p.Asn244His SP substitution exon 1 VAR_006889 P23942:p.Gly266Asp SP substitution exon 1 VAR_006890 P23942:p.Val268Ile SP substitution exon 1 VAR_006891 P23942:p.Glu304Gln SP substitution exon 1 VAR_006892 P23942:p.Gly305Asp SP substitution exon 1 VAR_006893 P23942:p.Lys310Arg SP substitution exon 1 VAR_006894 P23942:p.Pro313Leu SP substitution exon 1 VAR_006895 P23942:p.Gly338Asp SP substitution exon 1 VAR_006896 Q03395:p.Pro60Thr SP substitution exon 1 VAR_006897 Q03395:p.Thr108Met SP substitution exon 1 VAR_006898 Q03395:p.Arg229His SP substitution exon 1 VAR_006899 Q03395:p.Ala265Thr SP substitution exon 1 VAR_006900 Q03395:p.Met271Thr SP substitution exon 1 VAR_006901 P54132:p.Gln672Arg SP substitution exon 1 VAR_006902 P54132:p.Thr843Ile SP substitution exon 1 VAR_006903 P54132:p.Cys1055Ser SP substitution exon 1 VAR_006904 Q14191:p.Thr324Ala SP substitution exon 1 VAR_006905 Q14191:p.Met387Ile SP substitution exon 1 VAR_006907 P09622:p.Lys72Glu SP substitution exon 1 VAR_006911 P18577:p.Trp16Cys SP substitution exon 1 VAR_006912 P18577:p.Ala36Thr SP substitution exon 1 VAR_006913 P18577:p.Gln41Arg SP substitution exon 1 VAR_006914 P18577:p.Leu60Ile SP substitution exon 1 VAR_006915 P18577:p.Asn68Ser SP substitution exon 1 VAR_006916 P18577:p.Pro103Ser SP substitution exon 1 VAR_006917 P18577:p.Pro226Ala SP substitution exon 1 VAR_006918 P18577:p.Leu245Val SP substitution exon 1 VAR_006919 Q02161:p.Leu110Pro SP substitution exon 1 VAR_006920 Q02161:p.Met218Ile SP substitution exon 1 VAR_006921 Q02094:p.Ser79Asn SP substitution exon 1 VAR_006922 P27635:p.Asn202Ser SP substitution exon 1 VAR_006924 P39019:p.Arg62Trp SP substitution exon 1 VAR_006934 P23526:p.Asp86Asn SP substitution exon 1 VAR_006935 Q00266:p.Ala55Asp SP substitution exon 1 VAR_006936 Q00266:p.Arg199Cys SP substitution exon 1 VAR_006937 Q00266:p.Arg264His SP substitution exon 1 VAR_006938 Q00266:p.Leu305Pro SP substitution exon 1 VAR_006939 Q00266:p.Ile322Met SP substitution exon 1 VAR_006940 Q00266:p.Arg356Gln SP substitution exon 1 VAR_006941 Q00266:p.Pro357Leu SP substitution exon 1 VAR_006942 Q00266:p.Gly378Ser SP substitution exon 1 VAR_006943 P07602:p.Thr217Ile SP substitution exon 1 VAR_006944 P07602:p.Cys241Ser SP substitution exon 1 VAR_006945 P07602:p.Cys388Phe SP substitution exon 1 VAR_006947 P17900:p.Cys138Arg SP substitution exon 1 VAR_006951 P14061:p.Ala238Val SP substitution exon 1 VAR_006952 P14061:p.Gly313Ser SP substitution exon 1 VAR_006953 P37058:p.Arg80Gln SP substitution exon 1 VAR_006954 P37058:p.Arg80Trp SP substitution exon 1 VAR_006955 P37058:p.Ala203Val SP substitution exon 1 VAR_006956 P37058:p.Ser232Leu SP substitution exon 1 VAR_006957 P37058:p.Met235Val SP substitution exon 1 VAR_006958 P80365:p.Arg208Cys SP substitution exon 1 VAR_006959 P80365:p.Arg213Cys SP substitution exon 1 VAR_006960 P09417:p.Gly23Asp SP substitution exon 1 VAR_006961 P09417:p.Trp36Arg SP substitution exon 1 VAR_006962 P09417:p.Leu74Pro SP substitution exon 1 VAR_006963 P09417:p.Trp108Gly SP substitution exon 1 VAR_006965 P09417:p.Pro145Leu SP substitution exon 1 VAR_006966 P09417:p.Tyr150Cys SP substitution exon 1 VAR_006967 P09417:p.Gly151Ser SP substitution exon 1 VAR_006968 P09417:p.His158Tyr SP substitution exon 1 VAR_006969 P09417:p.Gly170Ser SP substitution exon 1 VAR_006970 P09417:p.Phe212Cys SP substitution exon 1 VAR_006973 P01011:p.Ala9Thr SP substitution exon 1 VAR_006974 P01011:p.Leu78Pro SP substitution exon 1 VAR_006975 P01011:p.Ala167Gly SP substitution exon 1 VAR_006976 P01011:p.Pro252Ala SP substitution exon 1 VAR_006977 P01011:p.Met401Val SP substitution exon 1 VAR_006978 P01009:p.Ser4Leu SP substitution exon 1 VAR_006979 P01009:p.Asp26Ala SP substitution exon 1 VAR_006980 P01009:p.Ala58Thr SP substitution exon 1 VAR_006981 P01009:p.Arg63Cys SP substitution exon 1 VAR_006982 P01009:p.Leu65Pro SP substitution exon 1 VAR_006983 P01009:p.Ser69Phe SP substitution exon 1 VAR_006985 P01009:p.Ser77Phe SP substitution exon 1 VAR_006986 P01009:p.Ala84Thr SP substitution exon 1 VAR_006987 P01009:p.Gly91Glu SP substitution exon 1 VAR_006988 P01009:p.Thr92Ile SP substitution exon 1 VAR_006989 P01009:p.Pro112Thr SP substitution exon 1 VAR_006990 P01009:p.Ile116Asn SP substitution exon 1 VAR_006991 P01009:p.Arg125His SP substitution exon 1 VAR_006992 P01009:p.Gly139Ser SP substitution exon 1 VAR_006993 P01009:p.Gly172Arg SP substitution exon 1 VAR_006994 P01009:p.Gly172Trp SP substitution exon 1 VAR_006995 P01009:p.Gln180Glu SP substitution exon 1 VAR_006996 P01009:p.Glu228Lys SP substitution exon 1 VAR_006997 P01009:p.Val237Ala SP substitution exon 1 VAR_006998 P01009:p.Arg247Cys SP substitution exon 1 VAR_006999 P01009:p.Asp280Val SP substitution exon 1 VAR_007000 P01009:p.Glu288Val SP substitution exon 1 VAR_007001 P01009:p.Ser354Phe SP substitution exon 1 VAR_007002 P01009:p.Ala360Thr SP substitution exon 1 VAR_007003 P01009:p.Asp365Asn SP substitution exon 1 VAR_007004 P01009:p.Glu366Lys SP substitution exon 1 VAR_007005 P01009:p.Met382Arg SP substitution exon 1 VAR_007006 P01009:p.Pro386His SP substitution exon 1 VAR_007007 P01009:p.Pro386Thr SP substitution exon 1 VAR_007008 P01009:p.Glu387Lys SP substitution exon 1 VAR_007009 P01009:p.Pro393Leu SP substitution exon 1 VAR_007010 P01009:p.Glu400Asp SP substitution exon 1 VAR_007011 P01009:p.Pro415His SP substitution exon 1 VAR_007013 P05155:p.Gly429Arg SP substitution exon 1 VAR_007032 P01008:p.Val30Glu SP substitution exon 1 VAR_007033 P01008:p.Ile39Asn SP substitution exon 1 VAR_007034 P01008:p.Met52Thr SP substitution exon 1 VAR_007035 P01008:p.Arg56Cys SP substitution exon 1 VAR_007036 P01008:p.Pro73Leu SP substitution exon 1 VAR_007037 P01008:p.Arg79Cys SP substitution exon 1 VAR_007038 P01008:p.Arg79His SP substitution exon 1 VAR_007039 P01008:p.Arg79Ser SP substitution exon 1 VAR_007041 P01008:p.Arg89Cys SP substitution exon 1 VAR_007042 P01008:p.Phe90Leu SP substitution exon 1 VAR_007044 P01008:p.Pro112Thr SP substitution exon 1 VAR_007045 P01008:p.Leu131Phe SP substitution exon 1 VAR_007046 P01008:p.Leu131Val SP substitution exon 1 VAR_007047 P01008:p.Gln133Lys SP substitution exon 1 VAR_007049 P01008:p.Ser148Pro SP substitution exon 1 VAR_007050 P01008:p.Gln150Pro SP substitution exon 1 VAR_007051 P01008:p.His152Tyr SP substitution exon 1 VAR_007053 P01008:p.Leu158Pro SP substitution exon 1 VAR_007054 P01008:p.Arg161Gln SP substitution exon 1 VAR_007055 P01008:p.Tyr190Cys SP substitution exon 1 VAR_007056 P01008:p.Tyr198Cys SP substitution exon 1 VAR_007057 P01008:p.Ser214Tyr SP substitution exon 1 VAR_007058 P01008:p.Asn219Lys SP substitution exon 1 VAR_007059 P01008:p.Asn219Asp SP substitution exon 1 VAR_007060 P01008:p.Glu269Lys SP substitution exon 1 VAR_007062 P01008:p.Met283Ile SP substitution exon 1 VAR_007063 P01008:p.Leu302Pro SP substitution exon 1 VAR_007064 P01008:p.Ile316Asn SP substitution exon 1 VAR_007065 P01008:p.Glu334Lys SP substitution exon 1 VAR_007067 P01008:p.Ser381Pro SP substitution exon 1 VAR_007068 P01008:p.Arg391Gln SP substitution exon 1 VAR_007069 P01008:p.Ala414Thr SP substitution exon 1 VAR_007070 P01008:p.Ala416Pro SP substitution exon 1 VAR_007071 P01008:p.Ala416Ser SP substitution exon 1 VAR_007072 P01008:p.Ala419Val SP substitution exon 1 VAR_007073 P01008:p.Gly424Asp SP substitution exon 1 VAR_007074 P01008:p.Arg425His SP substitution exon 1 VAR_007075 P01008:p.Arg425Cys SP substitution exon 1 VAR_007076 P01008:p.Arg425Pro SP substitution exon 1 VAR_007077 P01008:p.Ser426Leu SP substitution exon 1 VAR_007078 P01008:p.Phe434Cys SP substitution exon 1 VAR_007079 P01008:p.Phe434Ser SP substitution exon 1 VAR_007080 P01008:p.Phe434Leu SP substitution exon 1 VAR_007081 P01008:p.Ala436Thr SP substitution exon 1 VAR_007082 P01008:p.Asn437Lys SP substitution exon 1 VAR_007083 P01008:p.Arg438Met SP substitution exon 1 VAR_007084 P01008:p.Pro439Leu SP substitution exon 1 VAR_007085 P01008:p.Pro439Thr SP substitution exon 1 VAR_007086 P01008:p.Ile453Thr SP substitution exon 1 VAR_007087 P01008:p.Gly456Arg SP substitution exon 1 VAR_007088 P01008:p.Arg457Thr SP substitution exon 1 VAR_007090 P01008:p.Ala459Asp SP substitution exon 1 VAR_007091 P01008:p.Pro461Leu SP substitution exon 1 VAR_007092 P01008:p.Cys462Phe SP substitution exon 1 VAR_007093 P01019:p.Thr207Met SP substitution exon 1 VAR_007094 P01019:p.Thr242Ile SP substitution exon 1 VAR_007095 P01019:p.Leu244Arg SP substitution exon 1 VAR_007096 P01019:p.Met268Thr SP substitution exon 1 VAR_007097 P01019:p.Tyr281Cys SP substitution exon 1 VAR_007099 P05121:p.Ala15Thr SP substitution exon 1 VAR_007100 P05154:p.Ala55Val SP substitution exon 1 VAR_007101 P05154:p.Lys105Glu SP substitution exon 1 VAR_007102 P05543:p.Ser43Thr SP substitution exon 1 VAR_007103 P05543:p.Ile116Asn SP substitution exon 1 VAR_007104 P05543:p.Ala133Pro SP substitution exon 1 VAR_007105 P05543:p.Asp191Asn SP substitution exon 1 VAR_007106 P05543:p.Ala211Thr SP substitution exon 1 VAR_007107 P05543:p.Leu247Pro SP substitution exon 1 VAR_007111 P08185:p.Leu115His SP substitution exon 1 VAR_007112 P05546:p.Arg208His SP substitution exon 1 VAR_007113 P55017:p.Arg209Trp SP substitution exon 1 VAR_007114 P55017:p.Pro349Leu SP substitution exon 1 VAR_007115 P55017:p.Cys421Arg SP substitution exon 1 VAR_007116 P55017:p.Asp486Asn SP substitution exon 1 VAR_007117 P55017:p.Gly496Cys SP substitution exon 1 VAR_007119 P55017:p.Ala588Val SP substitution exon 1 VAR_007120 P55017:p.Gly630Val SP substitution exon 1 VAR_007121 P55017:p.Arg655His SP substitution exon 1 VAR_007122 P55017:p.Arg655Leu SP substitution exon 1 VAR_007123 P55017:p.Ala728Thr SP substitution exon 1 VAR_007124 P55017:p.Gly741Arg SP substitution exon 1 VAR_007125 P55017:p.Leu850Pro SP substitution exon 1 VAR_007126 P55017:p.Arg955Gln SP substitution exon 1 VAR_007127 P51168:p.Gly37Ser SP substitution exon 1 VAR_007128 P51168:p.Pro616Leu SP substitution exon 1 VAR_007129 P51168:p.Pro616Ser SP substitution exon 1 VAR_007130 P00441:p.Ala5Thr SP substitution exon 1 VAR_007131 P00441:p.Ala5Val SP substitution exon 1 VAR_007132 P00441:p.Val8Glu SP substitution exon 1 VAR_007133 P00441:p.Val15Met SP substitution exon 1 VAR_007134 P00441:p.Gly17Ser SP substitution exon 1 VAR_007135 P00441:p.Glu22Lys SP substitution exon 1 VAR_007136 P00441:p.Gly38Arg SP substitution exon 1 VAR_007137 P00441:p.Leu39Val SP substitution exon 1 VAR_007138 P00441:p.Gly42Ser SP substitution exon 1 VAR_007139 P00441:p.Gly42Asp SP substitution exon 1 VAR_007140 P00441:p.His44Arg SP substitution exon 1 VAR_007141 P00441:p.His47Arg SP substitution exon 1 VAR_007142 P00441:p.His49Gln SP substitution exon 1 VAR_007143 P00441:p.Leu85Val SP substitution exon 1 VAR_007144 P00441:p.Gly86Arg SP substitution exon 1 VAR_007145 P00441:p.Asp91Ala SP substitution exon 1 VAR_007146 P00441:p.Gly94Ala SP substitution exon 1 VAR_007147 P00441:p.Gly94Cys SP substitution exon 1 VAR_007148 P00441:p.Gly94Asp SP substitution exon 1 VAR_007149 P00441:p.Gly94Arg SP substitution exon 1 VAR_007150 P00441:p.Glu101Gly SP substitution exon 1 VAR_007151 P00441:p.Asp102Gly SP substitution exon 1 VAR_007152 P00441:p.Asp102Asn SP substitution exon 1 VAR_007153 P00441:p.Leu107Val SP substitution exon 1 VAR_007154 P00441:p.Ile113Thr SP substitution exon 1 VAR_007155 P00441:p.Ile114Thr SP substitution exon 1 VAR_007156 P00441:p.Arg116Gly SP substitution exon 1 VAR_007157 P00441:p.Asp126His SP substitution exon 1 VAR_007158 P00441:p.Ser135Asn SP substitution exon 1 VAR_007159 P00441:p.Asn140Lys SP substitution exon 1 VAR_007160 P00441:p.Leu145Phe SP substitution exon 1 VAR_007161 P00441:p.Val149Gly SP substitution exon 1 VAR_007162 P00441:p.Val149Ile SP substitution exon 1 VAR_007163 P00441:p.Ile150Thr SP substitution exon 1 VAR_007164 P00441:p.Ile152Thr SP substitution exon 1 VAR_007165 P04179:p.Ile82Thr SP substitution exon 1 VAR_007166 P01243:p.Pro3Ala SP substitution exon 1 VAR_007168 P13866:p.Asp28Asn SP substitution exon 1 VAR_007169 P11168:p.Pro68Leu SP substitution exon 1 VAR_007170 P14672:p.Val383Ile SP substitution exon 1 VAR_007171 P14672:p.Ile385Thr SP substitution exon 1 VAR_007172 P34059:p.Gly47Arg SP substitution exon 1 VAR_007173 P34059:p.Asp60Asn SP substitution exon 1 VAR_007174 P34059:p.Leu67Met SP substitution exon 1 VAR_007175 P34059:p.Pro77Arg SP substitution exon 1 VAR_007177 P34059:p.Ser80Leu SP substitution exon 1 VAR_007178 P34059:p.Arg90Trp SP substitution exon 1 VAR_007179 P34059:p.Arg94Cys SP substitution exon 1 VAR_007180 P34059:p.Arg94Gly SP substitution exon 1 VAR_007181 P34059:p.Gly96Cys SP substitution exon 1 VAR_007182 P34059:p.Gly96Val SP substitution exon 1 VAR_007183 P34059:p.Phe97Val SP substitution exon 1 VAR_007184 P34059:p.Gln111Arg SP substitution exon 1 VAR_007185 P34059:p.Ile113Phe SP substitution exon 1 VAR_007186 P34059:p.Pro125Leu SP substitution exon 1 VAR_007187 P34059:p.Ser135Arg SP substitution exon 1 VAR_007188 P34059:p.Val138Ala SP substitution exon 1 VAR_007189 P34059:p.Gly139Ser SP substitution exon 1 VAR_007190 P34059:p.Trp141Arg SP substitution exon 1 VAR_007191 P34059:p.Pro151Leu SP substitution exon 1 VAR_007192 P34059:p.Pro151Ser SP substitution exon 1 VAR_007193 P34059:p.Gly155Arg SP substitution exon 1 VAR_007194 P34059:p.Phe156Cys SP substitution exon 1 VAR_007195 P34059:p.Phe156Ser SP substitution exon 1 VAR_007196 P34059:p.His166Gln SP substitution exon 1 VAR_007197 P34059:p.Gly168Arg SP substitution exon 1 VAR_007198 P34059:p.Ile178Val SP substitution exon 1 VAR_007199 P34059:p.Pro179His SP substitution exon 1 VAR_007200 P34059:p.Pro179Leu SP substitution exon 1 VAR_007201 P34059:p.Glu185Gly SP substitution exon 1 VAR_007202 P34059:p.Thr200Met SP substitution exon 1 VAR_007203 P34059:p.Asn204Lys SP substitution exon 1 VAR_007204 P34059:p.Trp230Gly SP substitution exon 1 VAR_007205 P34059:p.Ala231Gly SP substitution exon 1 VAR_007206 P34059:p.Gly247Asp SP substitution exon 1 VAR_007207 P34059:p.Ala257Thr SP substitution exon 1 VAR_007208 P34059:p.Arg259Gln SP substitution exon 1 VAR_007210 P34059:p.Phe284Val SP substitution exon 1 VAR_007211 P34059:p.Ser287Leu SP substitution exon 1 VAR_007212 P34059:p.Gly290Ser SP substitution exon 1 VAR_007213 P34059:p.Ala291Asp SP substitution exon 1 VAR_007214 P34059:p.Ala291Thr SP substitution exon 1 VAR_007215 P34059:p.Ser295Phe SP substitution exon 1 VAR_007216 P34059:p.Gly301Cys SP substitution exon 1 VAR_007217 P34059:p.Gly309Arg SP substitution exon 1 VAR_007218 P34059:p.Thr312Ser SP substitution exon 1 VAR_007219 P34059:p.Met318Arg SP substitution exon 1 VAR_007221 P34059:p.Met343Arg SP substitution exon 1 VAR_007222 P34059:p.Asp344Glu SP substitution exon 1 VAR_007223 P34059:p.Asp344Asn SP substitution exon 1 VAR_007224 P34059:p.Phe346Leu SP substitution exon 1 VAR_007225 P34059:p.Ala351Val SP substitution exon 1 VAR_007226 P34059:p.Arg361Gly SP substitution exon 1 VAR_007227 P34059:p.Arg376Gln SP substitution exon 1 VAR_007228 P34059:p.Arg386Cys SP substitution exon 1 VAR_007229 P34059:p.Met391Val SP substitution exon 1 VAR_007230 P34059:p.Ala393Ser SP substitution exon 1 VAR_007231 P34059:p.Leu395Pro SP substitution exon 1 VAR_007232 P34059:p.Leu395Val SP substitution exon 1 VAR_007233 P34059:p.Asn407His SP substitution exon 1 VAR_007234 P34059:p.Trp409Ser SP substitution exon 1 VAR_007235 P34059:p.Glu450Val SP substitution exon 1 VAR_007236 P34059:p.Ala459Val SP substitution exon 1 VAR_007237 P34059:p.Asn487Ser SP substitution exon 1 VAR_007238 P34059:p.Val488Met SP substitution exon 1 VAR_007239 P34059:p.Met494Val SP substitution exon 1 VAR_007240 P08842:p.Ser341Leu SP substitution exon 1 VAR_007241 P08842:p.Trp372Arg SP substitution exon 1 VAR_007242 P08842:p.Cys446Tyr SP substitution exon 1 VAR_007243 P15289:p.Leu76Pro SP substitution exon 1 VAR_007244 P15289:p.Pro82Leu SP substitution exon 1 VAR_007245 P15289:p.Arg84Gln SP substitution exon 1 VAR_007246 P15289:p.Gly86Asp SP substitution exon 1 VAR_007247 P15289:p.Ser95Asn SP substitution exon 1 VAR_007248 P15289:p.Ser96Phe SP substitution exon 1 VAR_007249 P15289:p.Ser96Leu SP substitution exon 1 VAR_007250 P15289:p.Gly99Asp SP substitution exon 1 VAR_007251 P15289:p.Gly119Arg SP substitution exon 1 VAR_007252 P15289:p.Gly122Ser SP substitution exon 1 VAR_007253 P15289:p.Leu135Pro SP substitution exon 1 VAR_007254 P15289:p.Pro136Leu SP substitution exon 1 VAR_007255 P15289:p.Asp152Tyr SP substitution exon 1 VAR_007256 P15289:p.Gly154Asp SP substitution exon 1 VAR_007257 P15289:p.Pro155Arg SP substitution exon 1 VAR_007258 P15289:p.Pro167Arg SP substitution exon 1 VAR_007259 P15289:p.Asp169Asn SP substitution exon 1 VAR_007260 P15289:p.Cys172Tyr SP substitution exon 1 VAR_007261 P15289:p.Ile179Ser SP substitution exon 1 VAR_007262 P15289:p.Trp193Cys SP substitution exon 1 VAR_007263 P15289:p.Tyr201Cys SP substitution exon 1 VAR_007264 P15289:p.Ala212Val SP substitution exon 1 VAR_007265 P15289:p.Ala224Val SP substitution exon 1 VAR_007266 P15289:p.Pro231Thr SP substitution exon 1 VAR_007267 P15289:p.Arg244Cys SP substitution exon 1 VAR_007268 P15289:p.Arg244His SP substitution exon 1 VAR_007269 P15289:p.Gly245Arg SP substitution exon 1 VAR_007270 P15289:p.Ser250Tyr SP substitution exon 1 VAR_007271 P15289:p.Thr274Met SP substitution exon 1 VAR_007272 P15289:p.Arg288Cys SP substitution exon 1 VAR_007273 P15289:p.Ser295Tyr SP substitution exon 1 VAR_007274 P15289:p.Gly309Ser SP substitution exon 1 VAR_007275 P15289:p.Arg311Gln SP substitution exon 1 VAR_007276 P15289:p.Ala314Thr SP substitution exon 1 VAR_007277 P15289:p.Asp335Val SP substitution exon 1 VAR_007278 P15289:p.Asn350Ser SP substitution exon 1 VAR_007279 P15289:p.Lys367Asn SP substitution exon 1 VAR_007280 P15289:p.Arg370Gln SP substitution exon 1 VAR_007281 P15289:p.Arg370Trp SP substitution exon 1 VAR_007282 P15289:p.Pro377Leu SP substitution exon 1 VAR_007283 P15289:p.Glu382Lys SP substitution exon 1 VAR_007284 P15289:p.Arg384Cys SP substitution exon 1 VAR_007285 P15289:p.Arg390Gln SP substitution exon 1 VAR_007286 P15289:p.Arg390Trp SP substitution exon 1 VAR_007287 P15289:p.Thr391Ser SP substitution exon 1 VAR_007288 P15289:p.His397Tyr SP substitution exon 1 VAR_007294 P15848:p.Thr92Met SP substitution exon 1 VAR_007295 P15848:p.Arg95Gln SP substitution exon 1 VAR_007296 P15848:p.Cys117Arg SP substitution exon 1 VAR_007297 P15848:p.Gly137Val SP substitution exon 1 VAR_007298 P15848:p.Arg152Trp SP substitution exon 1 VAR_007299 P15848:p.Arg160Gln SP substitution exon 1 VAR_007300 P15848:p.Tyr210Cys SP substitution exon 1 VAR_007301 P15848:p.Leu236Pro SP substitution exon 1 VAR_007302 P15848:p.Gly302Arg SP substitution exon 1 VAR_007303 P15848:p.Val376Met SP substitution exon 1 VAR_007304 P15848:p.His393Pro SP substitution exon 1 VAR_007305 P15848:p.Cys405Tyr SP substitution exon 1 VAR_007306 P15848:p.Leu498Pro SP substitution exon 1 VAR_007307 P51690:p.Arg12Ser SP substitution exon 1 VAR_007308 P51690:p.Arg111Pro SP substitution exon 1 VAR_007309 P51690:p.Gly117Arg SP substitution exon 1 VAR_007310 P51690:p.Gly137Val SP substitution exon 1 VAR_007311 P51690:p.Gly245Arg SP substitution exon 1 VAR_007312 P51690:p.Cys492Tyr SP substitution exon 1 VAR_007313 P22304:p.Asp45Asn SP substitution exon 1 VAR_007314 P22304:p.Arg48Pro SP substitution exon 1 VAR_007315 P22304:p.Tyr54Asp SP substitution exon 1 VAR_007316 P22304:p.Asn63Asp SP substitution exon 1 VAR_007317 P22304:p.Ala68Glu SP substitution exon 1 VAR_007318 P22304:p.Ala79Glu SP substitution exon 1 VAR_007319 P22304:p.Ala85Thr SP substitution exon 1 VAR_007320 P22304:p.Pro86Leu SP substitution exon 1 VAR_007321 P22304:p.Pro86Gln SP substitution exon 1 VAR_007322 P22304:p.Pro86Arg SP substitution exon 1 VAR_007323 P22304:p.Ser87Asn SP substitution exon 1 VAR_007324 P22304:p.Arg88Cys SP substitution exon 1 VAR_007325 P22304:p.Arg88His SP substitution exon 1 VAR_007326 P22304:p.Arg88Leu SP substitution exon 1 VAR_007327 P22304:p.Arg88Pro SP substitution exon 1 VAR_007328 P22304:p.Leu92Pro SP substitution exon 1 VAR_007329 P22304:p.Gly94Asp SP substitution exon 1 VAR_007330 P22304:p.Leu102Arg SP substitution exon 1 VAR_007331 P22304:p.Tyr108Cys SP substitution exon 1 VAR_007332 P22304:p.Asn115Tyr SP substitution exon 1 VAR_007333 P22304:p.Thr118Ile SP substitution exon 1 VAR_007334 P22304:p.Pro120His SP substitution exon 1 VAR_007335 P22304:p.Pro120Arg SP substitution exon 1 VAR_007336 P22304:p.Glu125Val SP substitution exon 1 VAR_007337 P22304:p.Ser132Trp SP substitution exon 1 VAR_007338 P22304:p.Gly134Arg SP substitution exon 1 VAR_007339 P22304:p.Lys135Asn SP substitution exon 1 VAR_007340 P22304:p.Lys135Arg SP substitution exon 1 VAR_007341 P22304:p.Ser143Phe SP substitution exon 1 VAR_007342 P22304:p.His159Pro SP substitution exon 1 VAR_007344 P22304:p.Pro160Arg SP substitution exon 1 VAR_007345 P22304:p.Cys184Phe SP substitution exon 1 VAR_007346 P22304:p.Cys184Trp SP substitution exon 1 VAR_007347 P22304:p.Leu196Ser SP substitution exon 1 VAR_007348 P22304:p.Asp198Gly SP substitution exon 1 VAR_007349 P22304:p.Leu221Pro SP substitution exon 1 VAR_007350 P22304:p.Gly224Glu SP substitution exon 1 VAR_007351 P22304:p.Tyr225Asp SP substitution exon 1 VAR_007352 P22304:p.Lys227Gln SP substitution exon 1 VAR_007353 P22304:p.Pro228Leu SP substitution exon 1 VAR_007354 P22304:p.His229Tyr SP substitution exon 1 VAR_007355 P22304:p.Asp252Asn SP substitution exon 1 VAR_007356 P22304:p.Pro266His SP substitution exon 1 VAR_007357 P22304:p.Pro266Arg SP substitution exon 1 VAR_007358 P22304:p.Asp269Val SP substitution exon 1 VAR_007359 P22304:p.Gln293His SP substitution exon 1 VAR_007360 P22304:p.Ser333Leu SP substitution exon 1 VAR_007361 P22304:p.Trp337Arg SP substitution exon 1 VAR_007362 P22304:p.Gly340Asp SP substitution exon 1 VAR_007388 P51688:p.Tyr40Asn SP substitution exon 1 VAR_007389 P51688:p.Ala44Thr SP substitution exon 1 VAR_007390 P51688:p.Ser66Trp SP substitution exon 1 VAR_007391 P51688:p.Arg74Cys SP substitution exon 1 VAR_007392 P51688:p.Arg74His SP substitution exon 1 VAR_007393 P51688:p.Thr79Pro SP substitution exon 1 VAR_007395 P51688:p.Gln85Arg SP substitution exon 1 VAR_007396 P51688:p.Gly90Arg SP substitution exon 1 VAR_007397 P51688:p.Gly122Arg SP substitution exon 1 VAR_007398 P51688:p.Pro128Leu SP substitution exon 1 VAR_007399 P51688:p.Val131Met SP substitution exon 1 VAR_007400 P51688:p.Thr139Met SP substitution exon 1 VAR_007401 P51688:p.Leu146Pro SP substitution exon 1 VAR_007402 P51688:p.Arg150Gln SP substitution exon 1 VAR_007403 P51688:p.Asp179Asn SP substitution exon 1 VAR_007404 P51688:p.Arg182Cys SP substitution exon 1 VAR_007405 P51688:p.Phe193Leu SP substitution exon 1 VAR_007406 P51688:p.Arg206Pro SP substitution exon 1 VAR_007407 P51688:p.Val226Ala SP substitution exon 1 VAR_007408 P51688:p.Pro227Arg SP substitution exon 1 VAR_007409 P51688:p.Ala234Gly SP substitution exon 1 VAR_007410 P51688:p.Asp235Val SP substitution exon 1 VAR_007411 P51688:p.Arg245His SP substitution exon 1 VAR_007412 P51688:p.Ser298Pro SP substitution exon 1 VAR_007425 P50225:p.Arg213His SP substitution exon 1 VAR_007426 P50226:p.Ile7Thr SP substitution exon 1 VAR_007427 P50226:p.Asn235Thr SP substitution exon 1 VAR_007428 P40879:p.Gly120Ser SP substitution exon 1 VAR_007429 P40879:p.His124Leu SP substitution exon 1 VAR_007430 P40879:p.Pro131Arg SP substitution exon 1 VAR_007431 P40879:p.Cys307Trp SP substitution exon 1 VAR_007434 P50443:p.Gly255Glu SP substitution exon 1 VAR_007435 P50443:p.Arg279Trp SP substitution exon 1 VAR_007437 P50443:p.Asn425Asp SP substitution exon 1 VAR_007438 P50443:p.Gly678Val SP substitution exon 1 VAR_007439 P50443:p.Ala715Val SP substitution exon 1 VAR_007440 O43511:p.Gly209Val SP substitution exon 1 VAR_007441 O43511:p.Leu236Pro SP substitution exon 1 VAR_007442 O43511:p.Lys369Glu SP substitution exon 1 VAR_007443 O43511:p.Ala372Val SP substitution exon 1 VAR_007444 O43511:p.Glu384Gly SP substitution exon 1 VAR_007445 O43511:p.Thr416Pro SP substitution exon 1 VAR_007446 O43511:p.Gly497Ser SP substitution exon 1 VAR_007447 O43511:p.Phe667Cys SP substitution exon 1 VAR_007448 O43511:p.Thr721Met SP substitution exon 1 VAR_007449 O43511:p.His723Arg SP substitution exon 1 VAR_007450 Q15526:p.Gly124Glu SP substitution exon 1 VAR_007451 Q15526:p.Asp202His SP substitution exon 1 VAR_007452 Q15526:p.Ile246Thr SP substitution exon 1 VAR_007454 P37840:p.Ala53Thr SP substitution exon 1 VAR_007455 O76070:p.Glu110Val SP substitution exon 1 VAR_007456 Q99593:p.Arg237Gln SP substitution exon 1 VAR_007457 P60484:p.Arg15Ser SP substitution exon 1 VAR_007458 P60484:p.Gly36Glu SP substitution exon 1 VAR_007459 P60484:p.Leu42Arg SP substitution exon 1 VAR_007460 P60484:p.Leu57Trp SP substitution exon 1 VAR_007461 P60484:p.Ile67Arg SP substitution exon 1 VAR_007462 P60484:p.Tyr68His SP substitution exon 1 VAR_007463 P60484:p.His123Arg SP substitution exon 1 VAR_007464 P60484:p.Cys124Arg SP substitution exon 1 VAR_007465 P60484:p.Gly129Glu SP substitution exon 1 VAR_007466 P60484:p.Gly129Arg SP substitution exon 1 VAR_007467 P60484:p.Arg130Leu SP substitution exon 1 VAR_007468 P60484:p.Arg130Gln SP substitution exon 1 VAR_007469 P60484:p.Met134Leu SP substitution exon 1 VAR_007470 P60484:p.Ser170Arg SP substitution exon 1 VAR_007471 P00488:p.Pro565Leu SP substitution exon 1 VAR_007472 P00488:p.Val651Ile SP substitution exon 1 VAR_007473 P00488:p.Gln652Glu SP substitution exon 1 VAR_007474 P00488:p.Arg682His SP substitution exon 1 VAR_007475 P05160:p.Cys450Phe SP substitution exon 1 VAR_007476 P22735:p.Arg142His SP substitution exon 1 VAR_007477 P22735:p.Arg143Cys SP substitution exon 1 VAR_007478 P22735:p.Arg143His SP substitution exon 1 VAR_007479 P22735:p.Gly218Ser SP substitution exon 1 VAR_007480 P22735:p.Val379Leu SP substitution exon 1 VAR_007481 P22735:p.Arg396Leu SP substitution exon 1 VAR_007482 P16452:p.Ala112Thr SP substitution exon 1 VAR_007483 P03971:p.Val12Gly SP substitution exon 1 VAR_007484 P03971:p.Ser49Ile SP substitution exon 1 VAR_007485 P03971:p.Leu70Pro SP substitution exon 1 VAR_007486 P03971:p.Gly101Val SP substitution exon 1 VAR_007487 P03971:p.Arg123Trp SP substitution exon 1 VAR_007488 P03971:p.Tyr167Cys SP substitution exon 1 VAR_007489 P03971:p.Gln185Glu SP substitution exon 1 VAR_007490 P03971:p.Arg194Cys SP substitution exon 1 VAR_007491 P03971:p.Gln325Arg SP substitution exon 1 VAR_007492 P03971:p.Val477Ala SP substitution exon 1 VAR_007493 P55084:p.Arg61His SP substitution exon 1 VAR_007494 P55084:p.Arg247His SP substitution exon 1 VAR_007495 P55084:p.Asp263Gly SP substitution exon 1 VAR_007496 P24752:p.Ala5Pro SP substitution exon 1 VAR_007498 P24752:p.Asn93Ser SP substitution exon 1 VAR_007499 P24752:p.Gly152Ala SP substitution exon 1 VAR_007500 P24752:p.Asn158Asp SP substitution exon 1 VAR_007501 P24752:p.Gly183Arg SP substitution exon 1 VAR_007502 P24752:p.Thr297Met SP substitution exon 1 VAR_007503 P24752:p.Ala301Pro SP substitution exon 1 VAR_007504 P24752:p.Ile312Thr SP substitution exon 1 VAR_007505 P24752:p.Ala333Pro SP substitution exon 1 VAR_007506 P24752:p.Gly379Val SP substitution exon 1 VAR_007507 P24752:p.Ala380Thr SP substitution exon 1 VAR_007508 P35625:p.Ser179Cys SP substitution exon 1 VAR_007509 P35625:p.Tyr191Cys SP substitution exon 1 VAR_007510 P35625:p.Ser204Cys SP substitution exon 1 VAR_007513 P29965:p.Met36Arg SP substitution exon 1 VAR_007514 P29965:p.Ala123Glu SP substitution exon 1 VAR_007515 P29965:p.Val126Ala SP substitution exon 1 VAR_007517 P29965:p.Trp140Cys SP substitution exon 1 VAR_007518 P29965:p.Trp140Gly SP substitution exon 1 VAR_007519 P29965:p.Trp140Arg SP substitution exon 1 VAR_007520 P29965:p.Gly144Glu SP substitution exon 1 VAR_007521 P29965:p.Leu155Pro SP substitution exon 1 VAR_007522 P29965:p.Thr211Asn SP substitution exon 1 VAR_007523 P29965:p.Gly219Arg SP substitution exon 1 VAR_007524 P29965:p.Gly227Val SP substitution exon 1 VAR_007526 P29965:p.Leu231Ser SP substitution exon 1 VAR_007527 P29965:p.Ala235Pro SP substitution exon 1 VAR_007528 P29965:p.Thr254Met SP substitution exon 1 VAR_007530 P11387:p.Asp533Gly SP substitution exon 1 VAR_007531 P11387:p.Thr729Ala SP substitution exon 1 VAR_007532 P11388:p.Arg450Gln SP substitution exon 1 VAR_007533 P11388:p.Arg487Lys SP substitution exon 1 VAR_007534 P60174:p.Cys79Tyr SP substitution exon 1 VAR_007535 P60174:p.Gly110Ala SP substitution exon 1 VAR_007536 P60174:p.Glu142Asp SP substitution exon 1 VAR_007537 P60174:p.Gly160Arg SP substitution exon 1 VAR_007542 P19801:p.His645Asp SP substitution exon 1 VAR_007543 P50542:p.Asn526Lys SP substitution exon 1 VAR_007544 P02787:p.Asp296Gly SP substitution exon 1 VAR_007545 P02787:p.His319Arg SP substitution exon 1 VAR_007546 P02766:p.Gly26Ser SP substitution exon 1 VAR_007547 P02766:p.Cys30Arg SP substitution exon 1 VAR_007548 P02766:p.Asp38Glu SP substitution exon 1 VAR_007549 P02766:p.Asp38Gly SP substitution exon 1 VAR_007550 P02766:p.Val40Ile SP substitution exon 1 VAR_007551 P02766:p.Pro44Ser SP substitution exon 1 VAR_007552 P02766:p.Val50Ala SP substitution exon 1 VAR_007553 P02766:p.Val50Leu SP substitution exon 1 VAR_007554 P02766:p.Val50Met SP substitution exon 1 VAR_007555 P02766:p.Phe53Ile SP substitution exon 1 VAR_007556 P02766:p.Phe53Leu SP substitution exon 1 VAR_007557 P02766:p.Ala56Pro SP substitution exon 1 VAR_007558 P02766:p.Glu62Gly SP substitution exon 1 VAR_007559 P02766:p.Ala65Asp SP substitution exon 1 VAR_007560 P02766:p.Ala65Thr SP substitution exon 1 VAR_007561 P02766:p.Gly67Ala SP substitution exon 1 VAR_007562 P02766:p.Gly67Arg SP substitution exon 1 VAR_007563 P02766:p.Gly67Val SP substitution exon 1 VAR_007564 P02766:p.Thr69Ala SP substitution exon 1 VAR_007565 P02766:p.Ser70Ile SP substitution exon 1 VAR_007566 P02766:p.Ser70Arg SP substitution exon 1 VAR_007567 P02766:p.Ser72Pro SP substitution exon 1 VAR_007568 P02766:p.Glu74Gly SP substitution exon 1 VAR_007569 P02766:p.Leu75Pro SP substitution exon 1 VAR_007570 P02766:p.Leu78His SP substitution exon 1 VAR_007571 P02766:p.Leu78Arg SP substitution exon 1 VAR_007572 P02766:p.Thr79Lys SP substitution exon 1 VAR_007573 P02766:p.Thr80Ala SP substitution exon 1 VAR_007574 P02766:p.Glu81Lys SP substitution exon 1 VAR_007575 P02766:p.Phe84Leu SP substitution exon 1 VAR_007576 P02766:p.Ile88Leu SP substitution exon 1 VAR_007577 P02766:p.Tyr89His SP substitution exon 1 VAR_007578 P02766:p.Lys90Asn SP substitution exon 1 VAR_007579 P02766:p.Val91Ala SP substitution exon 1 VAR_007580 P02766:p.Ile93Val SP substitution exon 1 VAR_007581 P02766:p.Asp94His SP substitution exon 1 VAR_007582 P02766:p.Ser97Tyr SP substitution exon 1 VAR_007583 P02766:p.Ile104Asn SP substitution exon 1 VAR_007584 P02766:p.Ile104Ser SP substitution exon 1 VAR_007585 P02766:p.Glu109Gln SP substitution exon 1 VAR_007586 P02766:p.His110Asn SP substitution exon 1 VAR_007587 P02766:p.Ala111Ser SP substitution exon 1 VAR_007588 P02766:p.Ala117Gly SP substitution exon 1 VAR_007589 P02766:p.Gly121Ser SP substitution exon 1 VAR_007590 P02766:p.Pro122Arg SP substitution exon 1 VAR_007591 P02766:p.Arg124Cys SP substitution exon 1 VAR_007592 P02766:p.Ile127Val SP substitution exon 1 VAR_007593 P02766:p.Ala129Thr SP substitution exon 1 VAR_007594 P02766:p.Leu131Met SP substitution exon 1 VAR_007595 P02766:p.Tyr134Cys SP substitution exon 1 VAR_007596 P02766:p.Tyr136Ser SP substitution exon 1 VAR_007597 P02766:p.Tyr136Val SP substitution exon 1 VAR_007598 P02766:p.Tyr134His SP substitution exon 1 VAR_007599 P02766:p.Thr139Met SP substitution exon 1 VAR_007600 P02766:p.Val142Ile SP substitution exon 1 VAR_007601 P09493:p.Asp175Asn SP substitution exon 1 VAR_007602 P09493:p.Glu180Gly SP substitution exon 1 VAR_007603 P19429:p.Arg145Gly SP substitution exon 1 VAR_007604 P19429:p.Lys206Gln SP substitution exon 1 VAR_007614 P49747:p.Asp290Asn SP substitution exon 1 VAR_007615 P49747:p.Gly299Arg SP substitution exon 1 VAR_007616 P49747:p.Cys328Arg SP substitution exon 1 VAR_007617 P49747:p.Asp342Tyr SP substitution exon 1 VAR_007618 P49747:p.Asp349Val SP substitution exon 1 VAR_007619 P49747:p.Asp361Val SP substitution exon 1 VAR_007620 P49747:p.Asp361Tyr SP substitution exon 1 VAR_007622 P49747:p.Cys371Ser SP substitution exon 1 VAR_007625 P49747:p.Cys387Gly SP substitution exon 1 VAR_007627 P49747:p.Asp408Tyr SP substitution exon 1 VAR_007628 P49747:p.Gly440Glu SP substitution exon 1 VAR_007629 P49747:p.Gly440Arg SP substitution exon 1 VAR_007630 P49747:p.Asn453Ser SP substitution exon 1 VAR_007632 P49747:p.Cys468Tyr SP substitution exon 1 VAR_007634 P49747:p.Asp472Tyr SP substitution exon 1 VAR_007635 P49747:p.Asp473Gly SP substitution exon 1 VAR_007637 P49747:p.Asp482Gly SP substitution exon 1 VAR_007639 P49747:p.Asp518Asn SP substitution exon 1 VAR_007640 P49747:p.Asn523Lys SP substitution exon 1 VAR_007641 P49747:p.Thr585Met SP substitution exon 1 VAR_007642 P49747:p.Thr585Arg SP substitution exon 1 VAR_007643 P19971:p.Gly145Arg SP substitution exon 1 VAR_007644 P19971:p.Gly153Ser SP substitution exon 1 VAR_007645 P19971:p.Lys222Arg SP substitution exon 1 VAR_007646 P19971:p.Glu289Ala SP substitution exon 1 VAR_007648 P19971:p.Ser471Leu SP substitution exon 1 VAR_007649 P14679:p.His19Gln SP substitution exon 1 VAR_007650 P14679:p.Pro21Ser SP substitution exon 1 VAR_007651 P14679:p.Asp42Gly SP substitution exon 1 VAR_007652 P14679:p.Gly47Asp SP substitution exon 1 VAR_007653 P14679:p.Arg52Ile SP substitution exon 1 VAR_007654 P14679:p.Cys55Tyr SP substitution exon 1 VAR_007655 P14679:p.Arg77Gln SP substitution exon 1 VAR_007656 P14679:p.Arg77Trp SP substitution exon 1 VAR_007657 P14679:p.Trp80Arg SP substitution exon 1 VAR_007658 P14679:p.Pro81Leu SP substitution exon 1 VAR_007659 P14679:p.Cys89Arg SP substitution exon 1 VAR_007660 P14679:p.Gly97Arg SP substitution exon 1 VAR_007661 P14679:p.Phe176Ile SP substitution exon 1 VAR_007662 P14679:p.Ser192Tyr SP substitution exon 1 VAR_007663 P14679:p.Ala206Thr SP substitution exon 1 VAR_007664 P14679:p.Leu216Met SP substitution exon 1 VAR_007665 P14679:p.Arg217Gly SP substitution exon 1 VAR_007666 P14679:p.Arg217Trp SP substitution exon 1 VAR_007667 P14679:p.Arg217Gln SP substitution exon 1 VAR_007668 P14679:p.Gly253Arg SP substitution exon 1 VAR_007669 P14679:p.Val275Phe SP substitution exon 1 VAR_007670 P14679:p.Cys289Arg SP substitution exon 1 VAR_007671 P14679:p.Arg299His SP substitution exon 1 VAR_007672 P14679:p.Arg299Ser SP substitution exon 1 VAR_007673 P14679:p.Leu312Val SP substitution exon 1 VAR_007674 P14679:p.Pro313Arg SP substitution exon 1 VAR_007675 P14679:p.Thr325Ala SP substitution exon 1 VAR_007676 P14679:p.Ser339Gly SP substitution exon 1 VAR_007677 P14679:p.Phe340Leu SP substitution exon 1 VAR_007678 P14679:p.Ala355Pro SP substitution exon 1 VAR_007679 P14679:p.Asn371Thr SP substitution exon 1 VAR_007680 P14679:p.Thr373Lys SP substitution exon 1 VAR_007681 P14679:p.Ser380Pro SP substitution exon 1 VAR_007682 P14679:p.Asn382Lys SP substitution exon 1 VAR_007683 P14679:p.Asp383Asn SP substitution exon 1 VAR_007684 P14679:p.His390Asp SP substitution exon 1 VAR_007685 P14679:p.Ser395Asn SP substitution exon 1 VAR_007686 P14679:p.Arg402Gln SP substitution exon 1 VAR_007687 P14679:p.Arg403Ser SP substitution exon 1 VAR_007688 P14679:p.His404Pro SP substitution exon 1 VAR_007689 P14679:p.Pro406Leu SP substitution exon 1 VAR_007690 P14679:p.Gly419Arg SP substitution exon 1 VAR_007691 P14679:p.Arg422Gln SP substitution exon 1 VAR_007692 P14679:p.Gly446Ser SP substitution exon 1 VAR_007693 P14679:p.Asp448Asn SP substitution exon 1 VAR_007694 O00762:p.Gly25Asp SP substitution exon 1 VAR_007697 P22309:p.Cys177Arg SP substitution exon 1 VAR_007698 P22309:p.Arg209Trp SP substitution exon 1 VAR_007699 P22309:p.Gly276Arg SP substitution exon 1 VAR_007700 P22309:p.Ala292Val SP substitution exon 1 VAR_007701 P22309:p.Gly308Glu SP substitution exon 1 VAR_007702 P22309:p.Gln331Arg SP substitution exon 1 VAR_007703 P22309:p.Gln357Arg SP substitution exon 1 VAR_007704 P22309:p.Ala368Thr SP substitution exon 1 VAR_007705 P22309:p.Ser375Phe SP substitution exon 1 VAR_007706 P22309:p.Ser381Arg SP substitution exon 1 VAR_007707 P22309:p.Ala401Pro SP substitution exon 1 VAR_007708 P22309:p.Lys428Glu SP substitution exon 1 VAR_007709 P22309:p.Tyr486Asp SP substitution exon 1 VAR_007710 P22310:p.Gln332Arg SP substitution exon 1 VAR_007711 P22310:p.Ser376Phe SP substitution exon 1 VAR_007713 P54855:p.Tyr85Asp SP substitution exon 1 VAR_007714 P06132:p.Glu167Lys SP substitution exon 1 VAR_007715 P06132:p.Gly281Glu SP substitution exon 1 VAR_007716 P06132:p.Gly281Val SP substitution exon 1 VAR_007717 P06132:p.Arg292Gly SP substitution exon 1 VAR_007718 P06396:p.Asp214Asn SP substitution exon 1 VAR_007719 P06396:p.Asp214Tyr SP substitution exon 1 VAR_007720 P23352:p.Asn267Lys SP substitution exon 1 VAR_007721 P23352:p.Val534Ile SP substitution exon 1 VAR_007724 P43034:p.His149Arg SP substitution exon 1 VAR_007725 O00628:p.Gly217Arg SP substitution exon 1 VAR_007726 O00628:p.Ala218Val SP substitution exon 1 VAR_007727 P23025:p.Pro94Leu SP substitution exon 1 VAR_007728 P23025:p.Cys108Phe SP substitution exon 1 VAR_007729 P23025:p.Arg130Lys SP substitution exon 1 VAR_007730 P23025:p.Gln185His SP substitution exon 1 VAR_007731 P23025:p.His244Arg SP substitution exon 1 VAR_007732 P28715:p.Met254Val SP substitution exon 1 VAR_007735 P11161:p.Ile268Asn SP substitution exon 1 VAR_007736 P11161:p.Asp355Val SP substitution exon 1 VAR_007738 P11161:p.Arg409Trp SP substitution exon 1 VAR_007753 O60481:p.Thr323Met SP substitution exon 1 VAR_007754 P38398:p.Val11Ala SP substitution exon 1 VAR_007755 P38398:p.Ile21Val SP substitution exon 1 VAR_007756 P38398:p.Leu22Ser SP substitution exon 1 VAR_007757 P38398:p.Cys61Gly SP substitution exon 1 VAR_007758 P38398:p.Cys64Gly SP substitution exon 1 VAR_007759 P38398:p.Cys64Tyr SP substitution exon 1 VAR_007760 P38398:p.His239Arg SP substitution exon 1 VAR_007761 P38398:p.Val271Met SP substitution exon 1 VAR_007762 P38398:p.Gln356Arg SP substitution exon 1 VAR_007764 P38398:p.Ile379Met SP substitution exon 1 VAR_007765 P38398:p.Phe461Leu SP substitution exon 1 VAR_007766 P38398:p.Tyr465Asp SP substitution exon 1 VAR_007767 P38398:p.Arg507Ile SP substitution exon 1 VAR_007768 P38398:p.Gly552Val SP substitution exon 1 VAR_007769 P38398:p.Asp693Asn SP substitution exon 1 VAR_007770 P38398:p.Val772Ala SP substitution exon 1 VAR_007771 P38398:p.Lys820Glu SP substitution exon 1 VAR_007772 P38398:p.Thr826Lys SP substitution exon 1 VAR_007773 P38398:p.Arg841Trp SP substitution exon 1 VAR_007774 P38398:p.Pro871Leu SP substitution exon 1 VAR_007775 P38398:p.Leu892Ser SP substitution exon 1 VAR_007776 P38398:p.Gly960Asp SP substitution exon 1 VAR_007777 P38398:p.Met1008Ile SP substitution exon 1 VAR_007778 P38398:p.Thr1025Ile SP substitution exon 1 VAR_007779 P38398:p.Glu1038Gly SP substitution exon 1 VAR_007780 P38398:p.Ser1040Asn SP substitution exon 1 VAR_007781 P38398:p.Val1047Ala SP substitution exon 1 VAR_007800 P15918:p.Ala156Val SP substitution exon 1 VAR_007801 P15918:p.Arg244Gly SP substitution exon 1 VAR_007802 P15918:p.His249Arg SP substitution exon 1 VAR_007803 P15918:p.Arg624His SP substitution exon 1 VAR_007804 P15918:p.Glu722Lys SP substitution exon 1 VAR_007805 O60683:p.His290Gln SP substitution exon 1 VAR_007806 P32298:p.Val247Ile SP substitution exon 1 VAR_007807 P60484:p.Leu112Pro SP substitution exon 1 VAR_007808 P60484:p.Cys136Tyr SP substitution exon 1 VAR_007809 Q07812:p.Gly67Arg SP substitution exon 1 VAR_007810 P56715:p.Arg872His SP substitution exon 1 VAR_007811 P56715:p.Asn985Tyr SP substitution exon 1 VAR_007812 P56715:p.Ala1670Thr SP substitution exon 1 VAR_007813 P56715:p.Ser1691Pro SP substitution exon 1 VAR_007814 P56715:p.Cys2033Tyr SP substitution exon 1 VAR_007815 Q12948:p.Phe112Ser SP substitution exon 1 VAR_007816 Q12948:p.Ile126Met SP substitution exon 1 VAR_007817 Q12948:p.Ser131Leu SP substitution exon 1 VAR_007818 O95125:p.Val154Ala SP substitution exon 1 VAR_007819 O43602:p.Leu124Ser SP substitution exon 1 VAR_007820 O43602:p.Ser128Arg SP substitution exon 1 VAR_007821 O43602:p.Arg140Leu SP substitution exon 1 VAR_007822 O43602:p.Arg140His SP substitution exon 1 VAR_007823 O43602:p.Asp143Asn SP substitution exon 1 VAR_007824 O43602:p.Arg159Leu SP substitution exon 1 VAR_007825 O43602:p.Asp167His SP substitution exon 1 VAR_007826 O43602:p.Gly181Ala SP substitution exon 1 VAR_007827 O43602:p.Arg183Ser SP substitution exon 1 VAR_007828 O43602:p.Tyr206His SP substitution exon 1 VAR_007829 O43602:p.Tyr206Asp SP substitution exon 1 VAR_007830 O43602:p.Arg259Leu SP substitution exon 1 VAR_007831 O43602:p.Arg267Cys SP substitution exon 1 VAR_007832 O43602:p.Pro272Arg SP substitution exon 1 VAR_007833 O43602:p.Arg273Trp SP substitution exon 1 VAR_007834 O43602:p.Asn281Lys SP substitution exon 1 VAR_007835 O43602:p.Thr284Arg SP substitution exon 1 VAR_007836 O43602:p.Ile295Thr SP substitution exon 1 VAR_007837 O43602:p.Thr303Ile SP substitution exon 1 VAR_007838 O43602:p.Gly304Glu SP substitution exon 1 VAR_007839 O43602:p.Val317Ile SP substitution exon 1 VAR_007840 O43602:p.Ile331Asn SP substitution exon 1 VAR_007841 O43602:p.Ile331Thr SP substitution exon 1 VAR_007842 O43602:p.Gly334Asp SP substitution exon 1 VAR_007843 Q13635:p.Leu175Pro SP substitution exon 1 VAR_007844 Q13635:p.Phe376Ser SP substitution exon 1 VAR_007847 Q13635:p.Arg1114Trp SP substitution exon 1 VAR_007848 Q99835:p.Trp535Leu SP substitution exon 1 VAR_007849 Q99835:p.Arg562Gln SP substitution exon 1 VAR_007850 O43826:p.Trp118Arg SP substitution exon 1 VAR_007851 O95807:p.Phe141Leu SP substitution exon 1 VAR_007852 Q05086:p.Cys44Tyr SP substitution exon 1 VAR_007853 Q05086:p.Ala201Thr SP substitution exon 1 VAR_007854 P14410:p.Gln1098Pro SP substitution exon 1 VAR_007855 O75638:p.Gln6Arg SP substitution exon 1 VAR_007856 O75638:p.Gln89Glu SP substitution exon 1 VAR_007858 P49638:p.Arg192His SP substitution exon 1 VAR_007859 P13807:p.Gly464Ser SP substitution exon 1 VAR_007860 P54840:p.Asn39Ser SP substitution exon 1 VAR_007861 P54840:p.Ala339Pro SP substitution exon 1 VAR_007862 P54840:p.His446Asp SP substitution exon 1 VAR_007863 P54840:p.Pro479Gln SP substitution exon 1 VAR_007864 P54840:p.Ser483Pro SP substitution exon 1 VAR_007865 P54840:p.Met491Arg SP substitution exon 1 VAR_007866 P15313:p.Leu81Pro SP substitution exon 1 VAR_007867 P15313:p.Arg124Trp SP substitution exon 1 VAR_007868 P15313:p.Met174Arg SP substitution exon 1 VAR_007873 P04839:p.Gly20Arg SP substitution exon 1 VAR_007874 P04839:p.Arg54Ser SP substitution exon 1 VAR_007875 P04839:p.Cys59Arg SP substitution exon 1 VAR_007876 P04839:p.His101Tyr SP substitution exon 1 VAR_007877 P04839:p.His119Arg SP substitution exon 1 VAR_007878 P04839:p.His209Gln SP substitution exon 1 VAR_007880 P04839:p.His222Asn SP substitution exon 1 VAR_007881 P04839:p.His222Arg SP substitution exon 1 VAR_007882 P04839:p.His222Tyr SP substitution exon 1 VAR_007883 P04839:p.Gly223Leu SP substitution exon 1 VAR_007884 P04839:p.Cys244Arg SP substitution exon 1 VAR_007899 P02511:p.Arg120Gly SP substitution exon 1 VAR_007900 P17661:p.Ala337Pro SP substitution exon 1 VAR_007901 P17661:p.Ala360Pro SP substitution exon 1 VAR_007902 P17661:p.Asn393Ile SP substitution exon 1 VAR_007904 P07203:p.Pro200Leu SP substitution exon 1 VAR_007905 P20823:p.Ile27Leu SP substitution exon 1 VAR_007906 P20823:p.Ser487Asn SP substitution exon 1 VAR_007907 P06737:p.Val222Ile SP substitution exon 1 VAR_007908 P06737:p.Asn339Ser SP substitution exon 1 VAR_007909 P06737:p.Asn377Lys SP substitution exon 1 VAR_007910 P06132:p.Ala80Gly SP substitution exon 1 VAR_007911 P06132:p.Met165Arg SP substitution exon 1 VAR_007912 P06132:p.Leu195Phe SP substitution exon 1 VAR_007913 P06132:p.Leu253Gln SP substitution exon 1 VAR_007914 P06132:p.Asn304Lys SP substitution exon 1 VAR_007915 P06132:p.Gly318Arg SP substitution exon 1 VAR_007916 P06132:p.Arg332His SP substitution exon 1 VAR_007917 P06132:p.Ile334Thr SP substitution exon 1 VAR_007918 Q13608:p.Arg812Gln SP substitution exon 1 VAR_007919 Q13608:p.Arg812Trp SP substitution exon 1 VAR_007921 Q15831:p.Asp194Asn SP substitution exon 1 VAR_007922 Q15831:p.Arg297Lys SP substitution exon 1 VAR_007925 P14679:p.Pro152Ser SP substitution exon 1 VAR_007927 P14679:p.Leu288Ser SP substitution exon 1 VAR_007928 P14679:p.Glu294Lys SP substitution exon 1 VAR_007929 P14679:p.Glu328Gln SP substitution exon 1 VAR_007930 P14679:p.Gly346Glu SP substitution exon 1 VAR_007931 P14679:p.Ala355Glu SP substitution exon 1 VAR_007932 P14679:p.Ser361Arg SP substitution exon 1 VAR_007933 P14679:p.His367Tyr SP substitution exon 1 VAR_007934 P14679:p.Met370Thr SP substitution exon 1 VAR_007935 P14679:p.Asn371Tyr SP substitution exon 1 VAR_007936 P14679:p.Val393Phe SP substitution exon 1 VAR_007937 P14679:p.Arg402Gly SP substitution exon 1 VAR_007938 P14679:p.Pro431Leu SP substitution exon 1 VAR_007939 Q04671:p.Leu440Phe SP substitution exon 1 VAR_007940 Q04671:p.Ala481Thr SP substitution exon 1 VAR_007941 O00294:p.Arg420Pro SP substitution exon 1 VAR_007942 O00294:p.Ile459Lys SP substitution exon 1 VAR_007944 Q12948:p.Ser82Thr SP substitution exon 1 VAR_007945 Q12948:p.Ile87Met SP substitution exon 1 VAR_007946 O43186:p.Arg41Gln SP substitution exon 1 VAR_007948 O43186:p.Ala158Thr SP substitution exon 1 VAR_007949 O43186:p.Val242Met SP substitution exon 1 VAR_007951 P48728:p.His42Arg SP substitution exon 1 VAR_007952 P48728:p.Gly47Arg SP substitution exon 1 VAR_007953 P48728:p.Gly269Asp SP substitution exon 1 VAR_007954 P48728:p.Asp276His SP substitution exon 1 VAR_007957 P37840:p.Ala30Pro SP substitution exon 1 VAR_007958 P49810:p.Val148Ile SP substitution exon 1 VAR_007959 P21217:p.Trp68Arg SP substitution exon 1 VAR_007960 P21217:p.Gln102Lys SP substitution exon 1 VAR_007961 P21217:p.Ser124Ala SP substitution exon 1 VAR_007962 P21217:p.Asp162Asn SP substitution exon 1 VAR_007963 P21217:p.Gly223Arg SP substitution exon 1 VAR_007964 P21217:p.Val270Met SP substitution exon 1 VAR_007966 P23786:p.Met214Thr SP substitution exon 1 VAR_007967 P23786:p.Pro227Leu SP substitution exon 1 VAR_007968 P23786:p.Phe448Leu SP substitution exon 1 VAR_007969 P23786:p.Tyr479Phe SP substitution exon 1 VAR_007970 P23786:p.Arg503Cys SP substitution exon 1 VAR_007971 P23786:p.Gly549Asp SP substitution exon 1 VAR_007972 P30566:p.Ile72Val SP substitution exon 1 VAR_007973 P30566:p.Arg141Trp SP substitution exon 1 VAR_007974 P30566:p.Arg190Gln SP substitution exon 1 VAR_007975 P30566:p.Lys246Glu SP substitution exon 1 VAR_007976 P30566:p.Arg303Cys SP substitution exon 1 VAR_007977 P30566:p.Ser395Arg SP substitution exon 1 VAR_007978 P30566:p.Arg426His SP substitution exon 1 VAR_007979 P01130:p.Ala50Ser SP substitution exon 1 VAR_007980 P01130:p.Ser56Pro SP substitution exon 1 VAR_007981 P01130:p.Asp175Tyr SP substitution exon 1 VAR_007982 P01130:p.Asp221Asn SP substitution exon 1 VAR_007983 P01130:p.Glu288Lys SP substitution exon 1 VAR_007984 P01130:p.Asp356Tyr SP substitution exon 1 VAR_007985 P01130:p.Gln366Arg SP substitution exon 1 VAR_007986 P01130:p.Cys379Tyr SP substitution exon 1 VAR_007987 P01130:p.Leu401Val SP substitution exon 1 VAR_007988 P01130:p.Leu432Val SP substitution exon 1 VAR_007990 Q16637:p.Gly279Cys SP substitution exon 1 VAR_008017 O00255:p.Gly161Asp SP substitution exon 1 VAR_008018 O00255:p.Cys246Arg SP substitution exon 1 VAR_008019 P49815:p.Pro94Thr SP substitution exon 1 VAR_008020 P49815:p.Cys227Tyr SP substitution exon 1 VAR_008021 P49815:p.Asn331Lys SP substitution exon 1 VAR_008022 P49815:p.Asn486Ile SP substitution exon 1 VAR_008023 P49815:p.Ile490Val SP substitution exon 1 VAR_008024 P49815:p.Ala536Val SP substitution exon 1 VAR_008025 P49815:p.Phe615Ser SP substitution exon 1 VAR_008026 P49815:p.Pro816Leu SP substitution exon 1 VAR_008027 P49815:p.Val1144Met SP substitution exon 1 VAR_008028 P49815:p.Pro1315Ser SP substitution exon 1 VAR_008029 P49815:p.Arg1329His SP substitution exon 1 VAR_008030 P49815:p.Pro1709Leu SP substitution exon 1 VAR_008031 P49815:p.Arg1743Gln SP substitution exon 1 VAR_008032 P49815:p.His1773Pro SP substitution exon 1 VAR_008033 P49815:p.Glu1783Gln SP substitution exon 1 VAR_008034 P24394:p.Ile75Val SP substitution exon 1 VAR_008035 P24394:p.Gln576Arg SP substitution exon 1 VAR_008036 P60484:p.Met35Arg SP substitution exon 1 VAR_008037 P29474:p.Glu298Asp SP substitution exon 1 VAR_008039 Q03692:p.Tyr597Cys SP substitution exon 1 VAR_008040 Q03393:p.Asn47Asp SP substitution exon 1 VAR_008041 Q03393:p.Asp116Gly SP substitution exon 1 VAR_008042 P07902:p.Ser45Leu SP substitution exon 1 VAR_008043 P07902:p.Met129Thr SP substitution exon 1 VAR_008044 P07902:p.Trp167Arg SP substitution exon 1 VAR_008045 P07902:p.Arg204Pro SP substitution exon 1 VAR_008047 P07902:p.Arg272Gly SP substitution exon 1 VAR_008048 P07902:p.Phe294Tyr SP substitution exon 1 VAR_008049 P35520:p.Pro49Leu SP substitution exon 1 VAR_008050 P35520:p.Arg58Trp SP substitution exon 1 VAR_008051 P35520:p.Gly85Arg SP substitution exon 1 VAR_008052 P35520:p.Lys102Gln SP substitution exon 1 VAR_008053 P35520:p.Gly116Arg SP substitution exon 1 VAR_008054 P35520:p.Arg121Cys SP substitution exon 1 VAR_008055 P35520:p.Arg121His SP substitution exon 1 VAR_008056 P35520:p.Arg121Leu SP substitution exon 1 VAR_008057 P35520:p.Arg125Trp SP substitution exon 1 VAR_008058 P35520:p.Met126Val SP substitution exon 1 VAR_008059 P35520:p.Glu128Asp SP substitution exon 1 VAR_008060 P35520:p.Gly139Arg SP substitution exon 1 VAR_008061 P35520:p.Gly148Arg SP substitution exon 1 VAR_008062 P35520:p.Gly151Arg SP substitution exon 1 VAR_008064 P35520:p.Ile152Met SP substitution exon 1 VAR_008065 P35520:p.Ala155Thr SP substitution exon 1 VAR_008066 P35520:p.Glu176Lys SP substitution exon 1 VAR_008067 P35520:p.Val180Ala SP substitution exon 1 VAR_008068 P35520:p.Thr191Met SP substitution exon 1 VAR_008069 P35520:p.Asp198Val SP substitution exon 1 VAR_008070 P35520:p.Ala226Thr SP substitution exon 1 VAR_008071 P35520:p.Asp234Asn SP substitution exon 1 VAR_008072 P35520:p.Thr262Met SP substitution exon 1 VAR_008073 P35520:p.Arg266Gly SP substitution exon 1 VAR_008074 P35520:p.Arg266Lys SP substitution exon 1 VAR_008076 P35520:p.Glu302Lys SP substitution exon 1 VAR_008077 P35520:p.Gly305Arg SP substitution exon 1 VAR_008078 P35520:p.Val320Ala SP substitution exon 1 VAR_008079 P35520:p.Ala331Glu SP substitution exon 1 VAR_008080 P35520:p.Arg336His SP substitution exon 1 VAR_008081 P35520:p.Ser352Asn SP substitution exon 1 VAR_008082 P35520:p.Thr353Met SP substitution exon 1 VAR_008083 P35520:p.Val354Met SP substitution exon 1 VAR_008084 P35520:p.Arg369Cys SP substitution exon 1 VAR_008085 P35520:p.Cys370Tyr SP substitution exon 1 VAR_008086 P35520:p.Lys384Asn SP substitution exon 1 VAR_008087 P35520:p.Met391Ile SP substitution exon 1 VAR_008088 P35520:p.Thr434Asn SP substitution exon 1 VAR_008089 P35520:p.Ile435Thr SP substitution exon 1 VAR_008090 P35520:p.Arg439Gln SP substitution exon 1 VAR_008094 P41159:p.Arg105Trp SP substitution exon 1 VAR_008095 P11498:p.Ala610Thr SP substitution exon 1 VAR_008096 P11498:p.Met743Ile SP substitution exon 1 VAR_008097 P40337:p.Pro86His SP substitution exon 1 VAR_008098 P40337:p.His115Arg SP substitution exon 1 VAR_008099 P40337:p.Phe136Tyr SP substitution exon 1 VAR_008100 P40337:p.Gln145His SP substitution exon 1 VAR_008101 P40337:p.Val155Met SP substitution exon 1 VAR_008102 P40337:p.Gln164His SP substitution exon 1 VAR_008103 P40337:p.Val166Asp SP substitution exon 1 VAR_008104 P40337:p.Arg176Trp SP substitution exon 1 VAR_008105 P42768:p.Cys43Trp SP substitution exon 1 VAR_008106 P42768:p.Thr45Met SP substitution exon 1 VAR_008107 P42768:p.Cys73Arg SP substitution exon 1 VAR_008108 P42768:p.Tyr83Cys SP substitution exon 1 VAR_008109 P42768:p.Phe84Leu SP substitution exon 1 VAR_008110 P42768:p.Gly89Asp SP substitution exon 1 VAR_008111 Q30201:p.Val53Met SP substitution exon 1 VAR_008112 Q30201:p.Val59Met SP substitution exon 1 VAR_008113 Q30201:p.Gln127His SP substitution exon 1 VAR_008114 Q30201:p.Arg330Met SP substitution exon 1 VAR_008118 P02452:p.Gly866Ser SP substitution exon 1 VAR_008119 P08123:p.Gly331Asp SP substitution exon 1 VAR_008120 P08123:p.Gly973Val SP substitution exon 1 VAR_008121 P09417:p.Leu14Pro SP substitution exon 1 VAR_008122 P09417:p.Gly17Val SP substitution exon 1 VAR_008123 P00451:p.Ser202Arg SP substitution exon 1 VAR_008124 P51787:p.Phe157Cys SP substitution exon 1 VAR_008125 P51787:p.Tyr184Ser SP substitution exon 1 VAR_008126 P51787:p.Gly345Arg SP substitution exon 1 VAR_008127 P51787:p.Ser373Pro SP substitution exon 1 VAR_008129 P21359:p.Leu1446Pro SP substitution exon 1 VAR_008130 P31150:p.Leu92Pro SP substitution exon 1 VAR_008131 P31150:p.Arg423Pro SP substitution exon 1 VAR_008132 P15289:p.Cys300Phe SP substitution exon 1 VAR_008137 P08034:p.Thr55Ile SP substitution exon 1 VAR_008138 P08034:p.Val120Glu SP substitution exon 1 VAR_008139 Q16595:p.Arg165Cys SP substitution exon 1 VAR_008140 Q16595:p.Leu182Phe SP substitution exon 1 VAR_008141 P49768:p.Pro436Ser SP substitution exon 1 VAR_008142 Q05086:p.Arg62His SP substitution exon 1 VAR_008143 Q05086:p.Ser372Pro SP substitution exon 1 VAR_008145 P31513:p.Arg492Trp SP substitution exon 1 VAR_008146 P31513:p.Ala52Thr SP substitution exon 1 VAR_008147 P31513:p.Arg387Leu SP substitution exon 1 VAR_008149 P53420:p.Gly545Ala SP substitution exon 1 VAR_008150 P53420:p.Glu570Gln SP substitution exon 1 VAR_008151 P53420:p.Ala931Thr SP substitution exon 1 VAR_008152 P53420:p.Pro1004Leu SP substitution exon 1 VAR_008153 P53420:p.Gly1030Val SP substitution exon 1 VAR_008154 P53420:p.Pro1402Ser SP substitution exon 1 VAR_008155 P53420:p.Pro1572Leu SP substitution exon 1 VAR_008169 P02749:p.Ser107Asn SP substitution exon 1 VAR_008170 P02749:p.Cys325Gly SP substitution exon 1 VAR_008171 P02749:p.Trp335Ser SP substitution exon 1 VAR_008172 Q9Y5I7:p.Gly239Arg SP substitution exon 1 VAR_008173 Q9Y5I7:p.Met71Arg SP substitution exon 1 VAR_008174 Q9Y5I7:p.Leu167Pro SP substitution exon 1 VAR_008175 Q9Y5I7:p.Gly191Arg SP substitution exon 1 VAR_008176 Q9Y5I7:p.Gly198Asp SP substitution exon 1 VAR_008177 Q9Y5I7:p.Phe232Cys SP substitution exon 1 VAR_008178 Q9Y5I7:p.Gly233Asp SP substitution exon 1 VAR_008179 Q9Y5I7:p.Ser235Phe SP substitution exon 1 VAR_008180 O15537:p.Glu72Asp SP substitution exon 1 VAR_008181 O15537:p.Glu72Lys SP substitution exon 1 VAR_008182 O15537:p.Gly74Val SP substitution exon 1 VAR_008183 O15537:p.Trp96Arg SP substitution exon 1 VAR_008184 O15537:p.Arg102Trp SP substitution exon 1 VAR_008185 O15537:p.Gly109Arg SP substitution exon 1 VAR_008186 P19447:p.Thr119Pro SP substitution exon 1 VAR_008187 P18074:p.Gly47Arg SP substitution exon 1 VAR_008188 P18074:p.Asp234Asn SP substitution exon 1 VAR_008189 P18074:p.Cys259Tyr SP substitution exon 1 VAR_008191 P18074:p.Tyr542Cys SP substitution exon 1 VAR_008192 P18074:p.Arg601Leu SP substitution exon 1 VAR_008193 P18074:p.Arg616Trp SP substitution exon 1 VAR_008194 P18074:p.Arg658Cys SP substitution exon 1 VAR_008195 P18074:p.Arg658His SP substitution exon 1 VAR_008196 P18074:p.Asp673Gly SP substitution exon 1 VAR_008197 P18074:p.Arg683Gln SP substitution exon 1 VAR_008198 P18074:p.Arg683Trp SP substitution exon 1 VAR_008200 Q92889:p.Ile225Met SP substitution exon 1 VAR_008201 Q92889:p.Arg454Trp SP substitution exon 1 VAR_008209 O15537:p.Leu12His SP substitution exon 1 VAR_008210 O15537:p.Leu13Pro SP substitution exon 1 VAR_008211 O15537:p.Cys59Ser SP substitution exon 1 VAR_008212 O15537:p.Tyr65Cys SP substitution exon 1 VAR_008213 O15537:p.Gly70Ala SP substitution exon 1 VAR_008214 O15537:p.Gly70Ser SP substitution exon 1 VAR_008215 O15537:p.Tyr89Cys SP substitution exon 1 VAR_008216 O15537:p.Ala98Glu SP substitution exon 1 VAR_008217 O15537:p.Arg102Gln SP substitution exon 1 VAR_008218 O15537:p.Leu103Arg SP substitution exon 1 VAR_008219 O15537:p.Phe108Cys SP substitution exon 1 VAR_008220 O15537:p.Gly109Glu SP substitution exon 1 VAR_008221 O15537:p.Gly109Trp SP substitution exon 1 VAR_008222 O15537:p.Cys110Tyr SP substitution exon 1 VAR_008223 O15537:p.Trp112Cys SP substitution exon 1 VAR_008224 O15537:p.Leu113Phe SP substitution exon 1 VAR_008225 O15537:p.Leu127Pro SP substitution exon 1 VAR_008226 O15537:p.Gly135Val SP substitution exon 1 VAR_008227 O15537:p.Ile136Thr SP substitution exon 1 VAR_008228 O15537:p.Thr138Ala SP substitution exon 1 VAR_008229 O15537:p.Gly140Glu SP substitution exon 1 VAR_008230 O15537:p.Gly140Arg SP substitution exon 1 VAR_008231 O15537:p.Arg141Cys SP substitution exon 1 VAR_008232 O15537:p.Arg141Gly SP substitution exon 1 VAR_008233 O15537:p.Arg141His SP substitution exon 1 VAR_008234 O15537:p.Cys142Trp SP substitution exon 1 VAR_008235 O15537:p.Asp143Val SP substitution exon 1 VAR_008236 O15537:p.Glu146Asp SP substitution exon 1 VAR_008237 O15537:p.Glu146Lys SP substitution exon 1 VAR_008238 O15537:p.Tyr155Cys SP substitution exon 1 VAR_008239 O15537:p.Asp158Asn SP substitution exon 1 VAR_008240 O15537:p.Trp163Cys SP substitution exon 1 VAR_008241 O15537:p.Gly178Asp SP substitution exon 1 VAR_008242 O15537:p.Arg182Cys SP substitution exon 1 VAR_008243 O15537:p.Pro192Arg SP substitution exon 1 VAR_008244 O15537:p.Pro192Ser SP substitution exon 1 VAR_008245 O15537:p.Pro193Leu SP substitution exon 1 VAR_008246 O15537:p.Pro193Ser SP substitution exon 1 VAR_008247 O15537:p.Arg197Cys SP substitution exon 1 VAR_008248 O15537:p.Arg197His SP substitution exon 1 VAR_008249 O15537:p.Ile199Thr SP substitution exon 1 VAR_008251 O15537:p.Arg200Cys SP substitution exon 1 VAR_008252 O15537:p.Arg200His SP substitution exon 1 VAR_008253 O15537:p.Pro203Leu SP substitution exon 1 VAR_008254 O15537:p.His207Gln SP substitution exon 1 VAR_008255 O15537:p.Arg209His SP substitution exon 1 VAR_008256 O15537:p.Arg213Trp SP substitution exon 1 VAR_008257 O15537:p.Glu215Lys SP substitution exon 1 VAR_008258 O15537:p.Glu215Gln SP substitution exon 1 VAR_008259 O15537:p.Leu216Pro SP substitution exon 1 VAR_008260 O15537:p.Cys219Gly SP substitution exon 1 VAR_008261 O15537:p.Cys219Arg SP substitution exon 1 VAR_008262 O15537:p.Cys223Arg SP substitution exon 1 VAR_008263 P10523:p.Ile76Val SP substitution exon 1 VAR_008264 P10523:p.Arg84Cys SP substitution exon 1 VAR_008265 P10523:p.Thr125Met SP substitution exon 1 VAR_008269 Q03395:p.Arg16His SP substitution exon 1 VAR_008270 Q03395:p.Gly75Asp SP substitution exon 1 VAR_008271 Q03395:p.Gly118Ala SP substitution exon 1 VAR_008272 Q03395:p.Arg242Gln SP substitution exon 1 VAR_008273 P24386:p.Gln471Leu SP substitution exon 1 VAR_008274 O00294:p.Thr67Arg SP substitution exon 1 VAR_008275 O00294:p.Ala245Val SP substitution exon 1 VAR_008276 O00294:p.Ile259Thr SP substitution exon 1 VAR_008277 O00294:p.Lys261Thr SP substitution exon 1 VAR_008278 O00294:p.Arg378His SP substitution exon 1 VAR_008279 O00294:p.Thr454Met SP substitution exon 1 VAR_008282 O43186:p.Gly122Asp SP substitution exon 1 VAR_008283 Q15835:p.Glu136Gln SP substitution exon 1 VAR_008284 Q15835:p.Thr298Met SP substitution exon 1 VAR_008285 Q15835:p.Asn330Ser SP substitution exon 1 VAR_008286 Q15835:p.Arg438His SP substitution exon 1 VAR_008287 Q15835:p.Cys514Ser SP substitution exon 1 VAR_008288 Q15835:p.Met522Thr SP substitution exon 1 VAR_008289 Q15835:p.Ser536Leu SP substitution exon 1 VAR_008290 P35625:p.Gly189Cys SP substitution exon 1 VAR_008291 Q06187:p.Lys19Glu SP substitution exon 1 VAR_008292 Q06187:p.Lys27Arg SP substitution exon 1 VAR_008293 Q06187:p.Arg28Cys SP substitution exon 1 VAR_008294 Q06187:p.Tyr40Cys SP substitution exon 1 VAR_008295 Q06187:p.Tyr40Asn SP substitution exon 1 VAR_008296 Q06187:p.Ile61Asn SP substitution exon 1 VAR_008297 Q06187:p.Val64Asp SP substitution exon 1 VAR_008298 Q06187:p.Ser115Phe SP substitution exon 1 VAR_008299 Q06187:p.Thr117Pro SP substitution exon 1 VAR_008300 Q06187:p.Gln127His SP substitution exon 1 VAR_008301 Q06187:p.Cys154Ser SP substitution exon 1 VAR_008302 Q06187:p.Cys155Gly SP substitution exon 1 VAR_008303 Q06187:p.Cys155Arg SP substitution exon 1 VAR_008304 Q06187:p.Thr184Pro SP substitution exon 1 VAR_008305 Q06187:p.Arg288Gln SP substitution exon 1 VAR_008306 Q06187:p.Gly302Arg SP substitution exon 1 VAR_008307 Q06187:p.Arg307Thr SP substitution exon 1 VAR_008308 Q06187:p.Asp308Glu SP substitution exon 1 VAR_008309 Q06187:p.Val319Ala SP substitution exon 1 VAR_008310 Q06187:p.Ser366Phe SP substitution exon 1 VAR_008311 Q06187:p.Leu369Phe SP substitution exon 1 VAR_008312 Q06187:p.Arg372Gly SP substitution exon 1 VAR_008313 Q06187:p.Gly414Arg SP substitution exon 1 VAR_008314 Q06187:p.Lys430Arg SP substitution exon 1 VAR_008315 Q06187:p.Glu445Asp SP substitution exon 1 VAR_008316 Q06187:p.Gly462Asp SP substitution exon 1 VAR_008317 Q06187:p.Gly462Val SP substitution exon 1 VAR_008318 Q06187:p.Ala508Asp SP substitution exon 1 VAR_008319 Q06187:p.Met509Ile SP substitution exon 1 VAR_008320 Q06187:p.Leu518Arg SP substitution exon 1 VAR_008321 Q06187:p.Asp521Gly SP substitution exon 1 VAR_008322 Q06187:p.Ala523Glu SP substitution exon 1 VAR_008323 Q06187:p.Arg525Gly SP substitution exon 1 VAR_008342 P04798:p.Thr461Asn SP substitution exon 1 VAR_008343 P11712:p.Arg144Cys SP substitution exon 1 VAR_008344 P11712:p.Tyr358Cys SP substitution exon 1 VAR_008345 P11712:p.Ile359Leu SP substitution exon 1 VAR_008346 P11712:p.Gly417Asp SP substitution exon 1 VAR_008350 Q16678:p.Trp57Cys SP substitution exon 1 VAR_008351 Q16678:p.Pro379Leu SP substitution exon 1 VAR_008352 Q16678:p.Glu387Lys SP substitution exon 1 VAR_008353 Q16678:p.Arg390His SP substitution exon 1 VAR_008354 Q16678:p.Pro437Leu SP substitution exon 1 VAR_008355 Q16678:p.Asn453Ser SP substitution exon 1 VAR_008356 P11509:p.Gly479Val SP substitution exon 1 VAR_008357 P33261:p.Trp120Arg SP substitution exon 1 VAR_008358 P33261:p.Arg132Gln SP substitution exon 1 VAR_008359 P33261:p.Arg433Trp SP substitution exon 1 VAR_008360 P05181:p.Arg76His SP substitution exon 1 VAR_008361 P05181:p.Val179Ile SP substitution exon 1 VAR_008363 P08684:p.Ser222Pro SP substitution exon 1 VAR_008364 P08684:p.Met445Thr SP substitution exon 1 VAR_008365 P20815:p.Thr398Asn SP substitution exon 1 VAR_008375 Q9Y6J6:p.Thr8Ala SP substitution exon 1 VAR_008376 Q9Y6J6:p.Gln9Glu SP substitution exon 1 VAR_008377 Q9Y6J6:p.Met54Thr SP substitution exon 1 VAR_008378 Q9Y6J6:p.Ile57Thr SP substitution exon 1 VAR_008384 P15559:p.Pro187Ser SP substitution exon 1 VAR_008398 P78363:p.Arg18Trp SP substitution exon 1 VAR_008399 P78363:p.Arg24His SP substitution exon 1 VAR_008400 P78363:p.Cys54Tyr SP substitution exon 1 VAR_008401 P78363:p.Gly65Glu SP substitution exon 1 VAR_008402 P78363:p.Cys75Gly SP substitution exon 1 VAR_008403 P78363:p.Asn96Asp SP substitution exon 1 VAR_008404 P78363:p.Asn96His SP substitution exon 1 VAR_008405 P78363:p.Ala192Thr SP substitution exon 1 VAR_008406 P78363:p.Arg212Cys SP substitution exon 1 VAR_008407 P78363:p.Asp249Gly SP substitution exon 1 VAR_008408 P78363:p.Thr300Asn SP substitution exon 1 VAR_008409 P78363:p.Ser336Cys SP substitution exon 1 VAR_008410 P78363:p.Tyr340Asp SP substitution exon 1 VAR_008411 P78363:p.Ala407Val SP substitution exon 1 VAR_008412 P78363:p.Ser445Arg SP substitution exon 1 VAR_008413 P78363:p.Glu471Lys SP substitution exon 1 VAR_008414 P78363:p.Asp523Glu SP substitution exon 1 VAR_008415 P78363:p.Leu541Pro SP substitution exon 1 VAR_008416 P78363:p.Arg572Pro SP substitution exon 1 VAR_008417 P78363:p.Arg572Gln SP substitution exon 1 VAR_008418 P78363:p.Arg602Trp SP substitution exon 1 VAR_008419 P78363:p.Phe608Ile SP substitution exon 1 VAR_008420 P78363:p.Val643Gly SP substitution exon 1 VAR_008421 P78363:p.Asp645Asn SP substitution exon 1 VAR_008422 P78363:p.Gly818Glu SP substitution exon 1 VAR_008423 P78363:p.Trp821Arg SP substitution exon 1 VAR_008424 P78363:p.Gly851Asp SP substitution exon 1 VAR_008425 P78363:p.Gly863Ala SP substitution exon 1 VAR_008426 P78363:p.Thr901Ala SP substitution exon 1 VAR_008427 P78363:p.Val931Met SP substitution exon 1 VAR_008428 P78363:p.Arg943Gln SP substitution exon 1 VAR_008429 P78363:p.Gln957Arg SP substitution exon 1 VAR_008430 P78363:p.Asn965Ser SP substitution exon 1 VAR_008431 P78363:p.Gly978Cys SP substitution exon 1 VAR_008432 P78363:p.Glu1036Lys SP substitution exon 1 VAR_008433 P78363:p.Ala1038Val SP substitution exon 1 VAR_008434 P78363:p.Ser1071Leu SP substitution exon 1 VAR_008435 P78363:p.Val1072Ala SP substitution exon 1 VAR_008436 P78363:p.Glu1087Lys SP substitution exon 1 VAR_008437 P78363:p.Thr1112Asn SP substitution exon 1 VAR_008438 P78363:p.Glu1122Lys SP substitution exon 1 VAR_008439 P78363:p.Arg1129Leu SP substitution exon 1 VAR_008440 P78363:p.Leu1201Arg SP substitution exon 1 VAR_008441 P78363:p.Asp1204Asn SP substitution exon 1 VAR_008442 P78363:p.Pro1314Thr SP substitution exon 1 VAR_008443 P78363:p.Pro1380Leu SP substitution exon 1 VAR_008444 P78363:p.His1406Tyr SP substitution exon 1 VAR_008445 P78363:p.Trp1408Leu SP substitution exon 1 VAR_008446 P78363:p.Trp1408Arg SP substitution exon 1 VAR_008447 P78363:p.Thr1428Met SP substitution exon 1 VAR_008448 P78363:p.Val1429Ala SP substitution exon 1 VAR_008449 P78363:p.Val1433Ile SP substitution exon 1 VAR_008450 P78363:p.Gly1439Asp SP substitution exon 1 VAR_008451 P78363:p.Phe1440Ser SP substitution exon 1 VAR_008452 P78363:p.Pro1486Leu SP substitution exon 1 VAR_008453 P78363:p.Cys1488Arg SP substitution exon 1 VAR_008454 P78363:p.Cys1490Tyr SP substitution exon 1 VAR_008455 P78363:p.Arg1517Ser SP substitution exon 1 VAR_008456 P78363:p.Thr1526Met SP substitution exon 1 VAR_008457 P78363:p.Asp1532Asn SP substitution exon 1 VAR_008458 P78363:p.Ile1562Thr SP substitution exon 1 VAR_008459 P78363:p.Gly1578Arg SP substitution exon 1 VAR_008460 P78363:p.Leu1631Pro SP substitution exon 1 VAR_008461 P78363:p.Arg1640Trp SP substitution exon 1 VAR_008462 P78363:p.Tyr1652Asp SP substitution exon 1 VAR_008463 P78363:p.Ser1696Asn SP substitution exon 1 VAR_008464 P78363:p.Gln1703Lys SP substitution exon 1 VAR_008465 P78363:p.Leu1729Pro SP substitution exon 1 VAR_008466 P78363:p.Ala1794Asp SP substitution exon 1 VAR_008467 P78363:p.Arg1820Pro SP substitution exon 1 VAR_008468 P78363:p.His1838Tyr SP substitution exon 1 VAR_008469 P78363:p.Arg1843Trp SP substitution exon 1 VAR_008470 P78363:p.Asn1868Ile SP substitution exon 1 VAR_008471 P78363:p.Gly1886Glu SP substitution exon 1 VAR_008473 P78363:p.Arg1898His SP substitution exon 1 VAR_008474 P78363:p.Pro1948Leu SP substitution exon 1 VAR_008475 P78363:p.Gly1961Glu SP substitution exon 1 VAR_008476 P78363:p.Leu1970Phe SP substitution exon 1 VAR_008477 P78363:p.Gly1977Ser SP substitution exon 1 VAR_008478 P78363:p.Leu2027Phe SP substitution exon 1 VAR_008480 P78363:p.Arg2030Gln SP substitution exon 1 VAR_008481 P78363:p.Val2050Leu SP substitution exon 1 VAR_008482 P78363:p.Arg2077Trp SP substitution exon 1 VAR_008483 P78363:p.Glu2096Lys SP substitution exon 1 VAR_008484 P78363:p.Arg2106Cys SP substitution exon 1 VAR_008485 P78363:p.Arg2107His SP substitution exon 1 VAR_008486 P78363:p.His2128Arg SP substitution exon 1 VAR_008487 P78363:p.Glu2131Lys SP substitution exon 1 VAR_008488 P78363:p.Arg2139Trp SP substitution exon 1 VAR_008489 P78363:p.Cys2150Tyr SP substitution exon 1 VAR_008490 P78363:p.Lys2160Arg SP substitution exon 1 VAR_008491 P78363:p.Asp2177Asn SP substitution exon 1 VAR_008492 P78363:p.Ala60Val SP substitution exon 1 VAR_008493 P78363:p.Asp846His SP substitution exon 1 VAR_008494 P78363:p.Ile1846Thr SP substitution exon 1 VAR_008495 P78363:p.Arg2038Trp SP substitution exon 1 VAR_008498 O75695:p.Cys108Gly SP substitution exon 1 VAR_008499 O75695:p.Arg118His SP substitution exon 1 VAR_008500 O75695:p.Leu253Arg SP substitution exon 1 VAR_008513 P49959:p.Asn117Ser SP substitution exon 1 VAR_008514 P51570:p.Pro28Thr SP substitution exon 1 VAR_008516 O60673:p.Gln231His SP substitution exon 1 VAR_008517 O60673:p.Ser389Thr SP substitution exon 1 VAR_008518 O60673:p.Lys1540Glu SP substitution exon 1 VAR_008519 O60673:p.Ser2607Thr SP substitution exon 1 VAR_008520 Q99574:p.Ser49Pro SP substitution exon 1 VAR_008521 Q99574:p.Ser52Arg SP substitution exon 1 VAR_008522 Q01726:p.Arg151Cys SP substitution exon 1 VAR_008523 Q01726:p.Arg160Trp SP substitution exon 1 VAR_008524 Q01726:p.Asp294His SP substitution exon 1 VAR_008525 Q99456:p.Arg135Ile SP substitution exon 1 VAR_008526 Q99456:p.Arg135Gly SP substitution exon 1 VAR_008527 Q99456:p.Leu140Arg SP substitution exon 1 VAR_008528 Q99456:p.Tyr429Asp SP substitution exon 1 VAR_008529 P48436:p.Phe154Leu SP substitution exon 1 VAR_008530 P48436:p.Ala158Thr SP substitution exon 1 VAR_008531 P48436:p.His165Tyr SP substitution exon 1 VAR_008532 O43405:p.Pro51Ser SP substitution exon 1 VAR_008533 O43405:p.Val66Gly SP substitution exon 1 VAR_008534 O43405:p.Gly88Glu SP substitution exon 1 VAR_008535 O43405:p.Ile109Asn SP substitution exon 1 VAR_008536 O43405:p.Trp117Arg SP substitution exon 1 VAR_008537 Q09428:p.Arg1352Pro SP substitution exon 1 VAR_008539 Q09428:p.Arg1420Cys SP substitution exon 1 VAR_008540 Q09428:p.Arg1493Trp SP substitution exon 1 VAR_008541 P02746:p.Gly42Asp SP substitution exon 1 VAR_008542 P02747:p.Gly34Arg SP substitution exon 1 VAR_008543 P11226:p.Arg52Cys SP substitution exon 1 VAR_008547 P13804:p.Thr171Ile SP substitution exon 1 VAR_008548 P38117:p.Thr154Met SP substitution exon 1 VAR_008549 O15499:p.Arg47Cys SP substitution exon 1 VAR_008554 O96017:p.Arg145Trp SP substitution exon 1 VAR_008555 O96017:p.Ile157Thr SP substitution exon 1 VAR_008578 Q12809:p.Asn470Asp SP substitution exon 1 VAR_008579 Q12809:p.Arg534Cys SP substitution exon 1 VAR_008580 Q12809:p.Ala561Val SP substitution exon 1 VAR_008581 Q12809:p.Arg582Cys SP substitution exon 1 VAR_008582 Q12809:p.Ile593Arg SP substitution exon 1 VAR_008583 Q12809:p.Gly628Ser SP substitution exon 1 VAR_008584 Q12809:p.Val822Met SP substitution exon 1 VAR_008608 P16615:p.Gly23Glu SP substitution exon 1 VAR_008609 P16615:p.Asn39Thr SP substitution exon 1 VAR_008611 P16615:p.Leu65Ser SP substitution exon 1 VAR_008612 P16615:p.Arg131Gln SP substitution exon 1 VAR_008613 P16615:p.Pro160Leu SP substitution exon 1 VAR_008614 P16615:p.Ser186Pro SP substitution exon 1 VAR_008615 P16615:p.Gly211Asp SP substitution exon 1 VAR_008616 P16615:p.Val223Met SP substitution exon 1 VAR_008617 P16615:p.Cys268Phe SP substitution exon 1 VAR_008618 P16615:p.Gly310Val SP substitution exon 1 VAR_008619 P16615:p.Cys318Arg SP substitution exon 1 VAR_008620 P16615:p.Ile348Thr SP substitution exon 1 VAR_008621 P16615:p.Glu412Gly SP substitution exon 1 VAR_008622 P16615:p.Ser495Phe SP substitution exon 1 VAR_008623 P16615:p.Cys560Arg SP substitution exon 1 VAR_008624 P16615:p.Phe675Ser SP substitution exon 1 VAR_008625 P16615:p.Lys683Glu SP substitution exon 1 VAR_008626 P16615:p.Asp702Asn SP substitution exon 1 VAR_008627 P16615:p.Ala745Asp SP substitution exon 1 VAR_008629 P16615:p.Ser765Leu SP substitution exon 1 VAR_008630 P16615:p.Asn767Ser SP substitution exon 1 VAR_008631 P16615:p.Gly769Arg SP substitution exon 1 VAR_008632 P16615:p.Ala803Thr SP substitution exon 1 VAR_008633 P16615:p.Ala838Pro SP substitution exon 1 VAR_008634 P16615:p.Val843Phe SP substitution exon 1 VAR_008635 P16615:p.Cys875Gly SP substitution exon 1 VAR_008636 P16615:p.Ser920Tyr SP substitution exon 1 VAR_008637 P16615:p.His943Arg SP substitution exon 1 VAR_008638 P16615:p.Pro975Arg SP substitution exon 1 VAR_008639 Q09428:p.Arg74Gln SP substitution exon 1 VAR_008640 Q09428:p.His125Gln SP substitution exon 1 VAR_008641 Q09428:p.Val187Asp SP substitution exon 1 VAR_008642 Q09428:p.Asn188Ser SP substitution exon 1 VAR_008643 Q09428:p.Arg275Gln SP substitution exon 1 VAR_008644 Q09428:p.Asn406Asp SP substitution exon 1 VAR_008645 Q09428:p.Val560Met SP substitution exon 1 VAR_008646 Q09428:p.Phe591Leu SP substitution exon 1 VAR_008647 Q09428:p.Asp810Asn SP substitution exon 1 VAR_008648 Q09428:p.Arg834Cys SP substitution exon 1 VAR_008649 Q09428:p.Thr1138Met SP substitution exon 1 VAR_008650 Q09428:p.Arg1214Gln SP substitution exon 1 VAR_008651 Q09428:p.Val1360Gly SP substitution exon 1 VAR_008652 Q09428:p.Ala1369Ser SP substitution exon 1 VAR_008653 Q09428:p.Gly1378Arg SP substitution exon 1 VAR_008654 Q09428:p.Gly1381Ser SP substitution exon 1 VAR_008655 Q09428:p.Arg1393His SP substitution exon 1 VAR_008656 Q09428:p.Gly1478Arg SP substitution exon 1 VAR_008658 Q09428:p.Val1572Ile SP substitution exon 1 VAR_008671 P16278:p.Pro10Leu SP substitution exon 1 VAR_008672 P16278:p.Arg59His SP substitution exon 1 VAR_008673 P16278:p.Thr82Met SP substitution exon 1 VAR_008674 P16278:p.Tyr83His SP substitution exon 1 VAR_008675 P16278:p.Arg121Ser SP substitution exon 1 VAR_008676 P16278:p.Arg208Cys SP substitution exon 1 VAR_008677 P16278:p.Val240Met SP substitution exon 1 VAR_008678 P16278:p.Arg482Cys SP substitution exon 1 VAR_008679 P16278:p.Asp491Asn SP substitution exon 1 VAR_008680 P16278:p.Arg521Cys SP substitution exon 1 VAR_008681 P16278:p.Ser532Gly SP substitution exon 1 VAR_008682 P16278:p.Lys578Arg SP substitution exon 1 VAR_008683 P16278:p.Arg590His SP substitution exon 1 VAR_008684 P16278:p.Tyr591Cys SP substitution exon 1 VAR_008685 P16278:p.Tyr591Asn SP substitution exon 1 VAR_008686 P16278:p.Glu632Gly SP substitution exon 1 VAR_008687 P15538:p.Phe494Cys SP substitution exon 1 VAR_008689 P10253:p.Arg600His SP substitution exon 1 VAR_008690 P10253:p.Gly615Arg SP substitution exon 1 VAR_008694 P26367:p.Ile29Ser SP substitution exon 1 VAR_008695 P26367:p.Ala33Pro SP substitution exon 1 VAR_008697 P26367:p.Ile42Ser SP substitution exon 1 VAR_008698 P26367:p.Ser43Pro SP substitution exon 1 VAR_008699 P26367:p.Val53Leu SP substitution exon 1 VAR_008700 P26367:p.Val53Asp SP substitution exon 1 VAR_008701 P26367:p.Thr63Pro SP substitution exon 1 VAR_008702 P26367:p.Gly64Val SP substitution exon 1 VAR_008703 P26367:p.Ala79Glu SP substitution exon 1 VAR_008704 P26367:p.Ser119Arg SP substitution exon 1 VAR_008705 P26367:p.Val126Asp SP substitution exon 1 VAR_008706 P26367:p.Arg208Gln SP substitution exon 1 VAR_008707 P26367:p.Ser353Ala SP substitution exon 1 VAR_008708 P26367:p.Gln422Arg SP substitution exon 1 VAR_008709 P29033:p.Trp44Cys SP substitution exon 1 VAR_008710 P29033:p.Asp66His SP substitution exon 1 VAR_008711 O95452:p.Thr5Met SP substitution exon 1 VAR_008712 P12830:p.Asp244Gly SP substitution exon 1 VAR_008713 P12830:p.Val487Ala SP substitution exon 1 VAR_008714 O43186:p.Arg90Trp SP substitution exon 1 VAR_008717 P00441:p.Cys7Phe SP substitution exon 1 VAR_008718 P00441:p.Gly73Ser SP substitution exon 1 VAR_008719 P00441:p.Gly94Val SP substitution exon 1 VAR_008720 P00441:p.Ile105Phe SP substitution exon 1 VAR_008722 P00441:p.Asp125Val SP substitution exon 1 VAR_008724 P00441:p.Leu145Ser SP substitution exon 1 VAR_008725 P00441:p.Ala146Thr SP substitution exon 1 VAR_008726 P56696:p.Trp276Ser SP substitution exon 1 VAR_008727 P56696:p.Gly285Cys SP substitution exon 1 VAR_008728 P56696:p.Gly321Ser SP substitution exon 1 VAR_008729 Q30201:p.Gly93Arg SP substitution exon 1 VAR_008730 Q30201:p.Ile105Thr SP substitution exon 1 VAR_008731 Q30201:p.Glu277Lys SP substitution exon 1 VAR_008734 P60484:p.Ala34Asp SP substitution exon 1 VAR_008735 P60484:p.Cys105Tyr SP substitution exon 1 VAR_008736 P60484:p.Ile135Val SP substitution exon 1 VAR_008738 P60484:p.Gly165Val SP substitution exon 1 VAR_008739 P60484:p.Gly165Glu SP substitution exon 1 VAR_008740 P60484:p.Pro246Leu SP substitution exon 1 VAR_008741 P60484:p.Lys289Glu SP substitution exon 1 VAR_008742 P60484:p.Val343Glu SP substitution exon 1 VAR_008743 P60484:p.Phe347Leu SP substitution exon 1 VAR_008746 P04156:p.His187Arg SP substitution exon 1 VAR_008747 P04156:p.Thr188Arg SP substitution exon 1 VAR_008748 P04156:p.Thr188Lys SP substitution exon 1 VAR_008749 P04156:p.Glu196Lys SP substitution exon 1 VAR_008750 P04156:p.Asp202Asn SP substitution exon 1 VAR_008751 P04156:p.Val203Ile SP substitution exon 1 VAR_008752 P04156:p.Glu211Gln SP substitution exon 1 VAR_008753 P04156:p.Gln212Pro SP substitution exon 1 VAR_008755 P05129:p.Arg141Cys SP substitution exon 1 VAR_008756 P05129:p.His415Gln SP substitution exon 1 VAR_008757 P05129:p.Ala523Asp SP substitution exon 1 VAR_008758 P05129:p.Arg659Ser SP substitution exon 1 VAR_008759 P38398:p.Glu227Lys SP substitution exon 1 VAR_008760 P38398:p.Pro346Ser SP substitution exon 1 VAR_008766 P51587:p.Asn108His SP substitution exon 1 VAR_008767 P51587:p.Lys327Glu SP substitution exon 1 VAR_008768 P51587:p.Thr582Pro SP substitution exon 1 VAR_008769 P51587:p.Asp707Tyr SP substitution exon 1 VAR_008770 P51587:p.Met784Val SP substitution exon 1 VAR_008771 P51587:p.Asn886Ile SP substitution exon 1 VAR_008772 P51587:p.Asp935Asn SP substitution exon 1 VAR_008774 P51587:p.Cys1290Tyr SP substitution exon 1 VAR_008775 P51587:p.Thr1414Met SP substitution exon 1 VAR_008776 P51587:p.Asp1420Tyr SP substitution exon 1 VAR_008777 P51587:p.Asp1513Asn SP substitution exon 1 VAR_008778 P51587:p.Glu1593Asp SP substitution exon 1 VAR_008779 P51587:p.Gly1771Asp SP substitution exon 1 VAR_008780 P51587:p.Asn1805Ser SP substitution exon 1 VAR_008781 P51587:p.Asp1902Asn SP substitution exon 1 VAR_008782 P51587:p.His2074Asn SP substitution exon 1 VAR_008783 P51587:p.Glu2089Asp SP substitution exon 1 VAR_008784 P51587:p.Val2138Phe SP substitution exon 1 VAR_008785 P51587:p.Ala2466Val SP substitution exon 1 VAR_008786 P51587:p.Leu2480Val SP substitution exon 1 VAR_008787 P51587:p.Ile2490Thr SP substitution exon 1 VAR_008788 P51587:p.Arg2502His SP substitution exon 1 VAR_008789 P51587:p.Thr2515Ile SP substitution exon 1 VAR_008790 P51587:p.Arg2787His SP substitution exon 1 VAR_008791 P51587:p.Ile2944Phe SP substitution exon 1 VAR_008792 P51587:p.Ala2951Thr SP substitution exon 1 VAR_008793 P51587:p.Val2969Met SP substitution exon 1 VAR_008794 P51587:p.Tyr3098His SP substitution exon 1 VAR_008795 P51587:p.Lys3257Arg SP substitution exon 1 VAR_008796 P51587:p.Arg3276Ser SP substitution exon 1 VAR_008797 Q9Y233:p.Leu303Pro SP substitution exon 1 VAR_008798 P31994:p.Tyr258Asp SP substitution exon 1 VAR_008799 P08637:p.Leu66Arg SP substitution exon 1 VAR_008800 P08637:p.Leu66His SP substitution exon 1 VAR_008802 O75015:p.Ala78Asp SP substitution exon 1 VAR_008803 P98194:p.Ala304Thr SP substitution exon 1 VAR_008804 P98194:p.Leu318Pro SP substitution exon 1 VAR_008809 O43520:p.Leu288Ser SP substitution exon 1 VAR_008810 O43520:p.Gly308Val SP substitution exon 1 VAR_008812 O43520:p.Ile661Thr SP substitution exon 1 VAR_008813 O43520:p.Gly892Arg SP substitution exon 1 VAR_008815 O15118:p.Cys177Gly SP substitution exon 1 VAR_008816 O15118:p.His215Arg SP substitution exon 1 VAR_008817 O15118:p.Pro237Ser SP substitution exon 1 VAR_008818 O15118:p.Gly333Asp SP substitution exon 1 VAR_008819 O15118:p.Leu472Pro SP substitution exon 1 VAR_008820 O15118:p.Ser473Pro SP substitution exon 1 VAR_008821 O15118:p.His510Pro SP substitution exon 1 VAR_008822 O15118:p.Arg518Gln SP substitution exon 1 VAR_008823 O15118:p.Met642Ile SP substitution exon 1 VAR_008824 O15118:p.Val757Ala SP substitution exon 1 VAR_008845 P04839:p.Ala57Glu SP substitution exon 1 VAR_008846 P49821:p.Ala341Val SP substitution exon 1 VAR_008848 O75251:p.Val122Met SP substitution exon 1 VAR_008849 O43683:p.Glu36Asp SP substitution exon 1 VAR_008850 O43683:p.Ser492Tyr SP substitution exon 1 VAR_008851 O43683:p.Pro648Arg SP substitution exon 1 VAR_008852 O60566:p.Met15Thr SP substitution exon 1 VAR_008853 O60566:p.Arg349Gln SP substitution exon 1 VAR_008855 Q13275:p.Leu503Met SP substitution exon 1 VAR_008857 O00358:p.Ala65Val SP substitution exon 1 VAR_008858 Q9Y261:p.Ala328Val SP substitution exon 1 VAR_008859 P55318:p.Gly91Arg SP substitution exon 1 VAR_008860 Q13510:p.Val72Met SP substitution exon 1 VAR_008861 Q13510:p.Ile93Val SP substitution exon 1 VAR_008862 Q13510:p.Thr222Lys SP substitution exon 1 VAR_008873 P22413:p.Lys173Gln SP substitution exon 1 VAR_008874 O43819:p.Glu140Lys SP substitution exon 1 VAR_008875 O43819:p.Ser225Phe SP substitution exon 1 VAR_008876 O43933:p.Leu664Pro SP substitution exon 1 VAR_008877 O43933:p.Gly843Asp SP substitution exon 1 VAR_008878 P21549:p.Gly82Glu SP substitution exon 1 VAR_008882 P49281:p.Leu435Ile SP substitution exon 1 VAR_008883 P80404:p.Arg220Lys SP substitution exon 1 VAR_008884 P38570:p.Asp360Glu SP substitution exon 1 VAR_008885 P38570:p.Cys1041Ser SP substitution exon 1 VAR_008886 P15918:p.Arg396Cys SP substitution exon 1 VAR_008887 P15918:p.Arg396His SP substitution exon 1 VAR_008888 P15918:p.Asp429Gly SP substitution exon 1 VAR_008889 P15918:p.Arg561His SP substitution exon 1 VAR_008890 P15918:p.Arg561Cys SP substitution exon 1 VAR_008891 P15918:p.Arg737His SP substitution exon 1 VAR_008892 P15918:p.Lys820Arg SP substitution exon 1 VAR_008893 P15918:p.Leu885Arg SP substitution exon 1 VAR_008894 P15918:p.Tyr912Cys SP substitution exon 1 VAR_008895 P55895:p.Cys41Trp SP substitution exon 1 VAR_008896 P55895:p.Met285Arg SP substitution exon 1 VAR_008897 P15382:p.Thr7Ile SP substitution exon 1 VAR_008898 P15382:p.Val47Phe SP substitution exon 1 VAR_008899 P15382:p.Leu51His SP substitution exon 1 VAR_008900 P15382:p.Ser74Leu SP substitution exon 1 VAR_008901 P15382:p.Asp76Asn SP substitution exon 1 VAR_008902 P15382:p.Asp85Asn SP substitution exon 1 VAR_008903 P15382:p.Trp87Arg SP substitution exon 1 VAR_008904 P19878:p.Gly78Glu SP substitution exon 1 VAR_008905 P19878:p.Arg395Trp SP substitution exon 1 VAR_008906 Q14397:p.Pro446Leu SP substitution exon 1 VAR_008907 Q12809:p.Phe29Leu SP substitution exon 1 VAR_008908 Q12809:p.Asn33Thr SP substitution exon 1 VAR_008909 Q12809:p.Gly53Arg SP substitution exon 1 VAR_008910 Q12809:p.Arg56Gln SP substitution exon 1 VAR_008911 Q12809:p.Cys66Gly SP substitution exon 1 VAR_008912 Q12809:p.His70Arg SP substitution exon 1 VAR_008913 Q12809:p.Ala78Pro SP substitution exon 1 VAR_008914 Q12809:p.Leu86Arg SP substitution exon 1 VAR_008915 Q12809:p.Arg176Trp SP substitution exon 1 VAR_008916 Q12809:p.Thr436Met SP substitution exon 1 VAR_008917 Q12809:p.Thr474Ile SP substitution exon 1 VAR_008918 Q12809:p.Leu552Ser SP substitution exon 1 VAR_008919 Q12809:p.Ala558Pro SP substitution exon 1 VAR_008920 Q12809:p.Leu564Pro SP substitution exon 1 VAR_008921 Q12809:p.Tyr569His SP substitution exon 1 VAR_008922 Q12809:p.Gly572Arg SP substitution exon 1 VAR_008923 Q12809:p.Gly572Cys SP substitution exon 1 VAR_008924 Q12809:p.Gly584Ser SP substitution exon 1 VAR_008925 Q12809:p.Asn588Asp SP substitution exon 1 VAR_008926 Q12809:p.Gly601Ser SP substitution exon 1 VAR_008927 Q12809:p.Gly604Ser SP substitution exon 1 VAR_008928 Q12809:p.Tyr611His SP substitution exon 1 VAR_008929 Q12809:p.Val612Leu SP substitution exon 1 VAR_008930 Q12809:p.Thr613Met SP substitution exon 1 VAR_008931 Q12809:p.Ala614Val SP substitution exon 1 VAR_008932 Q12809:p.Asn629Asp SP substitution exon 1 VAR_008933 Q12809:p.Asn629Lys SP substitution exon 1 VAR_008934 Q12809:p.Val630Leu SP substitution exon 1 VAR_008935 Q12809:p.Val630Ala SP substitution exon 1 VAR_008936 Q12809:p.Asn633Ser SP substitution exon 1 VAR_008937 Q12809:p.Phe640Leu SP substitution exon 1 VAR_008938 Q12809:p.Ser818Leu SP substitution exon 1 VAR_008939 P51787:p.Arg174His SP substitution exon 1 VAR_008940 P51787:p.Asp242Asn SP substitution exon 1 VAR_008941 P51787:p.Arg243His SP substitution exon 1 VAR_008942 P51787:p.Trp248Arg SP substitution exon 1 VAR_008943 P51787:p.Leu250His SP substitution exon 1 VAR_008944 P51787:p.Glu261Asp SP substitution exon 1 VAR_008945 P51787:p.Tyr281Cys SP substitution exon 1 VAR_008946 P51787:p.Tyr315Cys SP substitution exon 1 VAR_008947 P51787:p.Lys318Asn SP substitution exon 1 VAR_008948 P51787:p.Arg366Trp SP substitution exon 1 VAR_008955 Q14524:p.His558Arg SP substitution exon 1 VAR_008956 Q14524:p.Thr1304Met SP substitution exon 1 VAR_008957 Q14524:p.Lys1500Asn SP substitution exon 1 VAR_008958 Q14524:p.Thr1645Met SP substitution exon 1 VAR_008959 Q14524:p.Glu1784Lys SP substitution exon 1 VAR_008960 Q06187:p.Tyr39Ser SP substitution exon 1 VAR_008961 Q06187:p.Leu512Pro SP substitution exon 1 VAR_008962 Q06187:p.Leu512Gln SP substitution exon 1 VAR_008966 P07949:p.Arg600Gln SP substitution exon 1 VAR_008967 P00451:p.Asp561Tyr SP substitution exon 1 VAR_008968 P00451:p.Gly2344Cys SP substitution exon 1 VAR_008969 Q99972:p.Val53Ala SP substitution exon 1 VAR_008970 Q99972:p.Cys433Arg SP substitution exon 1 VAR_008971 P21817:p.Arg533His SP substitution exon 1 VAR_008972 P21817:p.Arg2163Pro SP substitution exon 1 VAR_008973 P21817:p.Thr2206Arg SP substitution exon 1 VAR_008974 P21817:p.Arg2435Leu SP substitution exon 1 VAR_008975 P21817:p.Arg2454Cys SP substitution exon 1 VAR_008976 P21817:p.Arg2454His SP substitution exon 1 VAR_008977 P21817:p.Arg2458Cys SP substitution exon 1 VAR_008978 P21817:p.Arg2458His SP substitution exon 1 VAR_008979 P54802:p.Gly79Cys SP substitution exon 1 VAR_008980 P54802:p.His100Arg SP substitution exon 1 VAR_008982 P54802:p.Pro243Leu SP substitution exon 1 VAR_008983 P54802:p.Cys277Phe SP substitution exon 1 VAR_008984 P54802:p.Leu280Pro SP substitution exon 1 VAR_008985 P54802:p.Gly292Arg SP substitution exon 1 VAR_008986 P54802:p.Glu452Lys SP substitution exon 1 VAR_008987 P54802:p.Arg482Trp SP substitution exon 1 VAR_008988 P54802:p.Leu561Arg SP substitution exon 1 VAR_008989 P54802:p.Arg565Gln SP substitution exon 1 VAR_008990 P54802:p.Glu705Lys SP substitution exon 1 VAR_008991 P54802:p.Arg737Gly SP substitution exon 1 VAR_008992 P25054:p.Arg1171Cys SP substitution exon 1 VAR_008993 P25054:p.Val1822Asp SP substitution exon 1 VAR_008995 P01130:p.Phe403Leu SP substitution exon 1 VAR_008996 P01130:p.Leu568Val SP substitution exon 1 VAR_008998 P22304:p.Ser71Arg SP substitution exon 1 VAR_008999 P22304:p.Ala82Glu SP substitution exon 1 VAR_009001 P22304:p.Tyr264Asn SP substitution exon 1 VAR_009002 P22304:p.Asp334Gly SP substitution exon 1 VAR_009004 P35670:p.Arg616Gln SP substitution exon 1 VAR_009006 P35670:p.Gly711Arg SP substitution exon 1 VAR_009007 P35670:p.Gly711Trp SP substitution exon 1 VAR_009033 P04062:p.Glu80Lys SP substitution exon 1 VAR_009034 P04062:p.Ser146Leu SP substitution exon 1 VAR_009035 P04062:p.Arg170Cys SP substitution exon 1 VAR_009036 P04062:p.Arg170Leu SP substitution exon 1 VAR_009037 P04062:p.Pro198Leu SP substitution exon 1 VAR_009038 P04062:p.Ala229Glu SP substitution exon 1 VAR_009039 P04062:p.Gly234Trp SP substitution exon 1 VAR_009040 P04062:p.His294Gln SP substitution exon 1 VAR_009041 P04062:p.Phe298Leu SP substitution exon 1 VAR_009042 P04062:p.Arg324His SP substitution exon 1 VAR_009043 P04062:p.Tyr343Cys SP substitution exon 1 VAR_009044 P04062:p.His350Arg SP substitution exon 1 VAR_009045 P04062:p.Ala380Thr SP substitution exon 1 VAR_009046 P04062:p.Ser405Asn SP substitution exon 1 VAR_009047 P04062:p.Trp432Arg SP substitution exon 1 VAR_009048 P04062:p.Val437Phe SP substitution exon 1 VAR_009051 O15553:p.Glu148Gln SP substitution exon 1 VAR_009052 O15553:p.Glu167Asp SP substitution exon 1 VAR_009053 O15553:p.Arg202Gln SP substitution exon 1 VAR_009054 O15553:p.Thr267Ile SP substitution exon 1 VAR_009055 O15553:p.Pro369Ser SP substitution exon 1 VAR_009056 O15553:p.Arg408Gln SP substitution exon 1 VAR_009057 O15553:p.Phe479Leu SP substitution exon 1 VAR_009059 O15553:p.Thr681Ile SP substitution exon 1 VAR_009061 O15553:p.Met694Ile SP substitution exon 1 VAR_009062 O15553:p.Met694Val SP substitution exon 1 VAR_009064 O15553:p.Lys695Arg SP substitution exon 1 VAR_009065 O15553:p.Val726Ala SP substitution exon 1 VAR_009066 O15553:p.Ala744Ser SP substitution exon 1 VAR_009067 O15553:p.Arg761His SP substitution exon 1 VAR_009069 P18440:p.Arg187Gln SP substitution exon 1 VAR_009070 P18440:p.Met205Val SP substitution exon 1 VAR_009071 P18440:p.Ser214Ala SP substitution exon 1 VAR_009072 P18440:p.Asp251Val SP substitution exon 1 VAR_009073 P18440:p.Glu261Lys SP substitution exon 1 VAR_009074 P18440:p.Ile263Val SP substitution exon 1 VAR_009078 P14138:p.Ala17Thr SP substitution exon 1 VAR_009079 P14138:p.Ala224Thr SP substitution exon 1 VAR_009080 P05166:p.Leu17Met SP substitution exon 1 VAR_009082 P05166:p.Val205Asp SP substitution exon 1 VAR_009083 P05166:p.Pro228Leu SP substitution exon 1 VAR_009084 P05166:p.Thr428Ile SP substitution exon 1 VAR_009085 P05166:p.Met442Thr SP substitution exon 1 VAR_009086 P05166:p.Asn536Asp SP substitution exon 1 VAR_009087 P05165:p.Ala75Pro SP substitution exon 1 VAR_009088 P05165:p.Arg77Trp SP substitution exon 1 VAR_009089 P05165:p.Ala138Thr SP substitution exon 1 VAR_009090 P05165:p.Ile164Thr SP substitution exon 1 VAR_009091 P05165:p.Met229Lys SP substitution exon 1 VAR_009092 P05165:p.Gln297Arg SP substitution exon 1 VAR_009093 P05165:p.Asp368Gly SP substitution exon 1 VAR_009094 P05165:p.Met373Lys SP substitution exon 1 VAR_009095 P05165:p.Gly379Val SP substitution exon 1 VAR_009096 P05165:p.Arg399Gln SP substitution exon 1 VAR_009097 P05165:p.Pro423Leu SP substitution exon 1 VAR_009098 P05165:p.Ile475Val SP substitution exon 1 VAR_009099 P05165:p.Trp559Leu SP substitution exon 1 VAR_009100 P05165:p.Gly631Arg SP substitution exon 1 VAR_009101 P05165:p.Gly668Arg SP substitution exon 1 VAR_009103 P06132:p.Pro62Leu SP substitution exon 1 VAR_009104 P06132:p.Val134Gln SP substitution exon 1 VAR_009105 P06132:p.His220Pro SP substitution exon 1 VAR_009106 P06132:p.Phe229Leu SP substitution exon 1 VAR_009107 P06132:p.Tyr311Cys SP substitution exon 1 VAR_009108 P06132:p.Met324Thr SP substitution exon 1 VAR_009109 O76024:p.Glu169Lys SP substitution exon 1 VAR_009110 O76024:p.Pro292Ser SP substitution exon 1 VAR_009111 O76024:p.Ile296Ser SP substitution exon 1 VAR_009114 O76024:p.Gly437Arg SP substitution exon 1 VAR_009116 O76024:p.Cys690Arg SP substitution exon 1 VAR_009117 O76024:p.Trp700Cys SP substitution exon 1 VAR_009120 P17813:p.Ala160Asp SP substitution exon 1 VAR_009121 P17813:p.Leu221Pro SP substitution exon 1 VAR_009122 P11171:p.Val214Ile SP substitution exon 1 VAR_009123 P35240:p.Leu234Arg SP substitution exon 1 VAR_009124 P07550:p.Ile159Leu SP substitution exon 1 VAR_009125 P07550:p.Ile159Phe SP substitution exon 1 VAR_009126 P36955:p.Thr72Met SP substitution exon 1 VAR_009127 Q9UMX6:p.Glu155Asp SP substitution exon 1 VAR_009129 Q02846:p.Ala362Ser SP substitution exon 1 VAR_009130 Q02846:p.Ile573Val SP substitution exon 1 VAR_009131 Q02846:p.Phe565Ser SP substitution exon 1 VAR_009132 Q02846:p.Pro701Ser SP substitution exon 1 VAR_009133 Q02846:p.Leu782His SP substitution exon 1 VAR_009134 Q02846:p.Pro858Ser SP substitution exon 1 VAR_009135 Q02846:p.Leu954Pro SP substitution exon 1 VAR_009136 P51841:p.Leu284Pro SP substitution exon 1 VAR_009137 P51841:p.Arg296Gln SP substitution exon 1 VAR_009138 P54132:p.Gly891Glu SP substitution exon 1 VAR_009139 P54132:p.Cys901Tyr SP substitution exon 1 VAR_009140 P54132:p.Cys1036Phe SP substitution exon 1 VAR_009141 P04275:p.Cys788Tyr SP substitution exon 1 VAR_009142 P04275:p.Pro2063Ser SP substitution exon 1 VAR_009143 P04275:p.Cys2362Phe SP substitution exon 1 VAR_009144 P04275:p.Asn2546Tyr SP substitution exon 1 VAR_009145 O95477:p.Val399Ala SP substitution exon 1 VAR_009146 O95477:p.Arg587Trp SP substitution exon 1 VAR_009147 O95477:p.Trp590Ser SP substitution exon 1 VAR_009148 O95477:p.Gln597Arg SP substitution exon 1 VAR_009150 O95477:p.Asn935Ser SP substitution exon 1 VAR_009151 O95477:p.Ala937Val SP substitution exon 1 VAR_009152 O95477:p.Asp1289Asn SP substitution exon 1 VAR_009153 O95477:p.Cys1477Arg SP substitution exon 1 VAR_009154 O95477:p.Ile1517Arg SP substitution exon 1 VAR_009155 O95477:p.Asn1800His SP substitution exon 1 VAR_009156 O75027:p.Ile400Met SP substitution exon 1 VAR_009157 P78363:p.Ser2255Ile SP substitution exon 1 VAR_009158 Q9Y6H8:p.Asn63Ser SP substitution exon 1 VAR_009159 P35212:p.Pro71Ser SP substitution exon 1 VAR_009160 P35212:p.Ala128Val SP substitution exon 1 VAR_009161 P35212:p.Val130Ile SP substitution exon 1 VAR_009162 P35212:p.Pro319Ser SP substitution exon 1 VAR_009163 Q15465:p.Asp88Val SP substitution exon 1 VAR_009164 Q15465:p.Gln100His SP substitution exon 1 VAR_009165 Q15465:p.Asn115Lys SP substitution exon 1 VAR_009166 Q15465:p.Glu188Gln SP substitution exon 1 VAR_009167 Q15465:p.Asp222Asn SP substitution exon 1 VAR_009168 Q15465:p.Val224Glu SP substitution exon 1 VAR_009169 Q15465:p.Ala226Thr SP substitution exon 1 VAR_009170 Q15465:p.Ser236Arg SP substitution exon 1 VAR_009172 Q15465:p.Gly290Asp SP substitution exon 1 VAR_009179 Q12809:p.Asn629Ser SP substitution exon 1 VAR_009180 P51787:p.Leu353Pro SP substitution exon 1 VAR_009182 Q9Y6K9:p.Met407Val SP substitution exon 1 VAR_009183 P08779:p.Asn125Ser SP substitution exon 1 VAR_009184 P08779:p.Arg127Cys SP substitution exon 1 VAR_009185 P35908:p.Asn186Tyr SP substitution exon 1 VAR_009186 P35908:p.Glu476Lys SP substitution exon 1 VAR_009187 P35908:p.Thr479Pro SP substitution exon 1 VAR_009189 P17661:p.Leu345Pro SP substitution exon 1 VAR_009190 Q13772:p.Ser94Leu SP substitution exon 1 VAR_009191 Q13772:p.Phe154Leu SP substitution exon 1 VAR_009192 Q13772:p.Cys350Arg SP substitution exon 1 VAR_009195 Q13563:p.Trp414Gly SP substitution exon 1 VAR_009196 P50747:p.Val333Glu SP substitution exon 1 VAR_009197 P50747:p.Thr462Ile SP substitution exon 1 VAR_009202 P35575:p.Gln20Arg SP substitution exon 1 VAR_009203 P35575:p.Gln54Pro SP substitution exon 1 VAR_009204 P35575:p.Gly81Arg SP substitution exon 1 VAR_009205 P35575:p.Thr108Ile SP substitution exon 1 VAR_009206 P35575:p.Trp156Leu SP substitution exon 1 VAR_009207 P35575:p.Gly188Asp SP substitution exon 1 VAR_009208 P49768:p.Phe105Leu SP substitution exon 1 VAR_009209 P49768:p.Pro117Leu SP substitution exon 1 VAR_009210 P49768:p.Gly209Arg SP substitution exon 1 VAR_009211 P49768:p.Met233Leu SP substitution exon 1 VAR_009212 P49768:p.Leu282Arg SP substitution exon 1 VAR_009213 P49768:p.Ala409Thr SP substitution exon 1 VAR_009214 P49810:p.Thr122Pro SP substitution exon 1 VAR_009215 P49810:p.Met239Ile SP substitution exon 1 VAR_009217 Q13496:p.Pro179Ser SP substitution exon 1 VAR_009218 Q13496:p.Ile225Thr SP substitution exon 1 VAR_009219 Q13496:p.Ile264Ser SP substitution exon 1 VAR_009230 P35573:p.Gly1115Arg SP substitution exon 1 VAR_009231 P35573:p.Gly1448Arg SP substitution exon 1 VAR_009232 O15305:p.Glu139Lys SP substitution exon 1 VAR_009233 P00480:p.Ile172Phe SP substitution exon 1 VAR_009234 P00480:p.Gly188Val SP substitution exon 1 VAR_009235 P00480:p.Gly197Arg SP substitution exon 1 VAR_009237 P14679:p.Cys289Gly SP substitution exon 1 VAR_009238 P14679:p.Trp400Leu SP substitution exon 1 VAR_009239 P00439:p.Gln20Leu SP substitution exon 1 VAR_009240 P00439:p.Leu41Pro SP substitution exon 1 VAR_009241 P00439:p.Ser110Cys SP substitution exon 1 VAR_009242 P00439:p.Arg155Pro SP substitution exon 1 VAR_009243 P00439:p.Glu183Gln SP substitution exon 1 VAR_009244 P00439:p.Ser231Phe SP substitution exon 1 VAR_009245 P00439:p.Tyr325Cys SP substitution exon 1 VAR_009246 P00439:p.Glu330Asp SP substitution exon 1 VAR_009247 P00439:p.Gly344Arg SP substitution exon 1 VAR_009248 P00439:p.Gly344Val SP substitution exon 1 VAR_009249 P00439:p.Phe410Ser SP substitution exon 1 VAR_009250 P43246:p.Gly692Arg SP substitution exon 1 VAR_009251 P43246:p.Cys697Arg SP substitution exon 1 VAR_009252 O76082:p.Arg169Gln SP substitution exon 1 VAR_009253 O76082:p.Tyr211Cys SP substitution exon 1 VAR_009254 O76082:p.Trp283Arg SP substitution exon 1 VAR_009255 O76082:p.Val446Phe SP substitution exon 1 VAR_009256 O76082:p.Glu452Lys SP substitution exon 1 VAR_009257 O76082:p.Pro478Leu SP substitution exon 1 VAR_009258 P01008:p.Arg438Gly SP substitution exon 1 VAR_009259 P41732:p.Pro172His SP substitution exon 1 VAR_009260 P48039:p.Arg54Trp SP substitution exon 1 VAR_009261 P48039:p.Ala157Val SP substitution exon 1 VAR_009262 P49286:p.Gly24Glu SP substitution exon 1 VAR_009263 P49286:p.Leu66Phe SP substitution exon 1 VAR_009264 O60832:p.Ala353Val SP substitution exon 1 VAR_009266 Q9Y5X4:p.Arg76Gln SP substitution exon 1 VAR_009267 Q9Y5X4:p.Arg76Trp SP substitution exon 1 VAR_009268 P54845:p.Ser50Thr SP substitution exon 1 VAR_009270 P00367:p.Arg318Lys SP substitution exon 1 VAR_009271 P00367:p.Glu349Ala SP substitution exon 1 VAR_009272 Q92781:p.Ile33Val SP substitution exon 1 VAR_009273 Q92781:p.Ser73Phe SP substitution exon 1 VAR_009275 Q00604:p.Cys96Trp SP substitution exon 1 VAR_009276 P02753:p.Ile59Asn SP substitution exon 1 VAR_009277 P02753:p.Gly93Asp SP substitution exon 1 VAR_009279 P11488:p.Gly38Asp SP substitution exon 1 VAR_009280 P04798:p.Arg279Trp SP substitution exon 1 VAR_009281 P35869:p.Arg554Lys SP substitution exon 1 VAR_009282 P35869:p.Val570Ile SP substitution exon 1 VAR_009283 P35913:p.Arg74Cys SP substitution exon 1 VAR_009284 P35913:p.Glu166Lys SP substitution exon 1 VAR_009285 P35913:p.Tyr212His SP substitution exon 1 VAR_009286 P35913:p.Tyr219His SP substitution exon 1 VAR_009287 P35913:p.Leu228His SP substitution exon 1 VAR_009288 P35913:p.Leu228Ile SP substitution exon 1 VAR_009289 P35913:p.His258Asn SP substitution exon 1 VAR_009290 P35913:p.Leu527Pro SP substitution exon 1 VAR_009291 P35913:p.Ile535Asn SP substitution exon 1 VAR_009292 P35913:p.Arg552Gln SP substitution exon 1 VAR_009293 P35913:p.Leu854Arg SP substitution exon 1 VAR_009294 P18545:p.Pro27His SP substitution exon 1 VAR_009295 P29973:p.Arg32Gln SP substitution exon 1 VAR_009296 P29973:p.Asp118Asn SP substitution exon 1 VAR_009297 P29973:p.Ser320Phe SP substitution exon 1 VAR_009298 P04000:p.Cys203Arg SP substitution exon 1 VAR_009299 P04000:p.Pro307Leu SP substitution exon 1 VAR_009300 P24855:p.Val114Met SP substitution exon 1 VAR_009301 P24855:p.Arg207Cys SP substitution exon 1 VAR_009302 P50225:p.Arg37Gln SP substitution exon 1 VAR_009303 P50225:p.Val223Met SP substitution exon 1 VAR_009304 P56589:p.Gly138Glu SP substitution exon 1 VAR_009305 O76075:p.Arg196Lys SP substitution exon 1 VAR_009306 Q92968:p.Ile326Thr SP substitution exon 1 VAR_009307 Q02297:p.Arg38Gln SP substitution exon 1 VAR_009309 P52945:p.Cys18Arg SP substitution exon 1 VAR_009310 P52945:p.Gln59Leu SP substitution exon 1 VAR_009311 P52945:p.Asp76Asn SP substitution exon 1 VAR_009312 P52945:p.Arg197His SP substitution exon 1 VAR_009314 Q15080:p.Leu147Ile SP substitution exon 1 VAR_009315 Q13402:p.Leu16Ser SP substitution exon 1 VAR_009316 Q13402:p.Gly25Arg SP substitution exon 1 VAR_009317 Q13402:p.Ile205Val SP substitution exon 1 VAR_009318 Q13402:p.Arg212Cys SP substitution exon 1 VAR_009319 Q13402:p.Arg212His SP substitution exon 1 VAR_009320 Q13402:p.Gly214Arg SP substitution exon 1 VAR_009322 Q13402:p.Arg241Ser SP substitution exon 1 VAR_009323 Q13402:p.Arg244Pro SP substitution exon 1 VAR_009324 Q13402:p.Arg302His SP substitution exon 1 VAR_009325 Q13402:p.Ala397Asp SP substitution exon 1 VAR_009326 Q13402:p.Glu450Gln SP substitution exon 1 VAR_009328 Q13402:p.Pro503Leu SP substitution exon 1 VAR_009329 Q13402:p.Val597Ile SP substitution exon 1 VAR_009330 Q13402:p.Met599Ile SP substitution exon 1 VAR_009331 Q13402:p.Leu651Pro SP substitution exon 1 VAR_009332 Q13402:p.Ala826Thr SP substitution exon 1 VAR_009334 Q13402:p.Gly955Ser SP substitution exon 1 VAR_009335 Q13402:p.Leu1087Pro SP substitution exon 1 VAR_009336 Q13402:p.Glu1170Lys SP substitution exon 1 VAR_009337 Q13402:p.Arg1240Gln SP substitution exon 1 VAR_009338 Q13402:p.Ala1288Pro SP substitution exon 1 VAR_009339 Q13402:p.Arg1343Ser SP substitution exon 1 VAR_009340 Q13402:p.Arg1602Gln SP substitution exon 1 VAR_009341 Q13402:p.Ala1628Ser SP substitution exon 1 VAR_009343 Q13402:p.Cys1666Ser SP substitution exon 1 VAR_009344 Q13402:p.Tyr1719Cys SP substitution exon 1 VAR_009345 Q13402:p.Ile1954Leu SP substitution exon 1 VAR_009346 Q13402:p.Phe1992Ile SP substitution exon 1 VAR_009347 Q13402:p.Gly2137Glu SP substitution exon 1 VAR_009348 Q13402:p.Gly2163Ser SP substitution exon 1 VAR_009349 P33897:p.Glu90Lys SP substitution exon 1 VAR_009350 P33897:p.Ser103Arg SP substitution exon 1 VAR_009351 P33897:p.Thr105Pro SP substitution exon 1 VAR_009352 P33897:p.Ser108Leu SP substitution exon 1 VAR_009353 P33897:p.Arg113Cys SP substitution exon 1 VAR_009354 P33897:p.Pro143Ser SP substitution exon 1 VAR_009355 P33897:p.Arg152Leu SP substitution exon 1 VAR_009356 P33897:p.Arg152Ser SP substitution exon 1 VAR_009357 P33897:p.Ser161Pro SP substitution exon 1 VAR_009358 P33897:p.Arg163Pro SP substitution exon 1 VAR_009359 P33897:p.Tyr174Cys SP substitution exon 1 VAR_009360 P33897:p.Arg189Trp SP substitution exon 1 VAR_009361 P33897:p.Leu190Pro SP substitution exon 1 VAR_009362 P33897:p.Thr198Lys SP substitution exon 1 VAR_009363 P33897:p.Asp200Asn SP substitution exon 1 VAR_009364 P33897:p.Ser213Cys SP substitution exon 1 VAR_009365 P33897:p.Asn214Asp SP substitution exon 1 VAR_009366 P33897:p.Pro218Thr SP substitution exon 1 VAR_009367 P33897:p.Leu229Pro SP substitution exon 1 VAR_009368 P33897:p.Glu271Lys SP substitution exon 1 VAR_009369 P33897:p.Arg285Pro SP substitution exon 1 VAR_009370 P33897:p.Tyr296Cys SP substitution exon 1 VAR_009371 P33897:p.Gly298Asp SP substitution exon 1 VAR_009372 P33897:p.Glu302Lys SP substitution exon 1 VAR_009373 P33897:p.Leu322Pro SP substitution exon 1 VAR_009374 P33897:p.Lys336Met SP substitution exon 1 VAR_009375 P33897:p.Arg401Trp SP substitution exon 1 VAR_009376 P33897:p.Gly529Ser SP substitution exon 1 VAR_009377 P33897:p.Phe540Ser SP substitution exon 1 VAR_009378 P33897:p.Pro543Leu SP substitution exon 1 VAR_009379 P33897:p.Gln544Arg SP substitution exon 1 VAR_009380 P33897:p.Ser552Pro SP substitution exon 1 VAR_009381 P33897:p.Arg554His SP substitution exon 1 VAR_009382 P33897:p.Arg591Trp SP substitution exon 1 VAR_009383 P33897:p.Ala616Val SP substitution exon 1 VAR_009384 P33897:p.Glu630Gly SP substitution exon 1 VAR_009385 P33897:p.Cys631Tyr SP substitution exon 1 VAR_009386 P33897:p.Ser633Arg SP substitution exon 1 VAR_009387 P33897:p.Ser636Ile SP substitution exon 1 VAR_009388 P33897:p.Asp638Tyr SP substitution exon 1 VAR_009389 P33897:p.Ala646Pro SP substitution exon 1 VAR_009390 P33897:p.Leu654Pro SP substitution exon 1 VAR_009391 P33897:p.His667Asp SP substitution exon 1 VAR_009392 P33897:p.Thr668Ile SP substitution exon 1 VAR_009393 P33897:p.Thr693Met SP substitution exon 1 VAR_009394 P07550:p.Lys375Arg SP substitution exon 1 VAR_009395 Q13627:p.Tyr415Phe SP substitution exon 1 VAR_009397 Q92574:p.Glu51Asp SP substitution exon 1 VAR_009398 Q92574:p.Arg190Ser SP substitution exon 1 VAR_009399 Q92574:p.Leu191His SP substitution exon 1 VAR_009401 Q92574:p.Met224Arg SP substitution exon 1 VAR_009402 Q92574:p.Met322Thr SP substitution exon 1 VAR_009403 Q92574:p.Thr417Ile SP substitution exon 1 VAR_009404 Q92574:p.Glu577Asp SP substitution exon 1 VAR_009406 Q92574:p.Lys587Arg SP substitution exon 1 VAR_009407 Q92574:p.Gln654Glu SP substitution exon 1 VAR_009408 Q92574:p.Ala726Glu SP substitution exon 1 VAR_009409 Q92574:p.His732Tyr SP substitution exon 1 VAR_009410 Q92574:p.Glu809Gln SP substitution exon 1 VAR_009411 Q92574:p.Ser829Arg SP substitution exon 1 VAR_009412 Q92574:p.Thr899Ser SP substitution exon 1 VAR_009413 Q92574:p.Gly1035Ser SP substitution exon 1 VAR_009414 Q92574:p.Gly1108Ser SP substitution exon 1 VAR_009415 P49815:p.His137Arg SP substitution exon 1 VAR_009416 P49815:p.Leu160Val SP substitution exon 1 VAR_009417 P49815:p.Lys258Asn SP substitution exon 1 VAR_009418 P49815:p.Arg261Pro SP substitution exon 1 VAR_009419 P49815:p.Arg261Trp SP substitution exon 1 VAR_009420 P49815:p.Met286Thr SP substitution exon 1 VAR_009421 P49815:p.Met286Val SP substitution exon 1 VAR_009422 P49815:p.Gly294Glu SP substitution exon 1 VAR_009424 P49815:p.Leu309Gln SP substitution exon 1 VAR_009425 P49815:p.Leu320Phe SP substitution exon 1 VAR_009426 P49815:p.Leu361Pro SP substitution exon 1 VAR_009428 P49815:p.Arg367Gln SP substitution exon 1 VAR_009429 P49815:p.Pro378Leu SP substitution exon 1 VAR_009430 P49815:p.Gly440Ser SP substitution exon 1 VAR_009431 P49815:p.Ile463Val SP substitution exon 1 VAR_009432 P49815:p.Asn525Ser SP substitution exon 1 VAR_009433 P49815:p.Ala583Thr SP substitution exon 1 VAR_009434 P49815:p.His593Arg SP substitution exon 1 VAR_009435 P49815:p.Lys599Met SP substitution exon 1 VAR_009436 P49815:p.Ala614Asp SP substitution exon 1 VAR_009437 P49815:p.Asp647Asn SP substitution exon 1 VAR_009439 P49815:p.Cys696Tyr SP substitution exon 1 VAR_009440 P49815:p.Leu717Arg SP substitution exon 1 VAR_009441 P49815:p.Val769Glu SP substitution exon 1 VAR_009442 P49815:p.Met895Val SP substitution exon 1 VAR_009443 P49815:p.Val963Met SP substitution exon 1 VAR_009444 P49815:p.Ser1282Gly SP substitution exon 1 VAR_009445 P49815:p.Pro1497Arg SP substitution exon 1 VAR_009446 P49815:p.Ser1498Asn SP substitution exon 1 VAR_009447 P49815:p.Leu1594Met SP substitution exon 1 VAR_009448 P49815:p.His1620Tyr SP substitution exon 1 VAR_009449 P49815:p.Asn1643Lys SP substitution exon 1 VAR_009450 P49815:p.Asn1651Ser SP substitution exon 1 VAR_009451 P49815:p.Pro1675Leu SP substitution exon 1 VAR_009452 P49815:p.Asn1681Lys SP substitution exon 1 VAR_009453 P49815:p.Ser1704Thr SP substitution exon 1 VAR_009454 P49815:p.Arg1743Pro SP substitution exon 1 VAR_009455 P49815:p.Leu1744Pro SP substitution exon 1 VAR_009457 P49815:p.Gly1787Ser SP substitution exon 1 VAR_009458 P49815:p.Gly1791Ser SP substitution exon 1 VAR_009459 P07949:p.Pro20Leu SP substitution exon 1 VAR_009460 P07949:p.Arg77Cys SP substitution exon 1 VAR_009461 P07949:p.Cys157Tyr SP substitution exon 1 VAR_009462 P07949:p.Phe174Ser SP substitution exon 1 VAR_009463 P07949:p.Arg180Pro SP substitution exon 1 VAR_009464 P07949:p.Cys197Tyr SP substitution exon 1 VAR_009465 P07949:p.Arg313Gln SP substitution exon 1 VAR_009466 P07949:p.Asn359Lys SP substitution exon 1 VAR_009467 P07949:p.Arg360Trp SP substitution exon 1 VAR_009468 P07949:p.Asn394Lys SP substitution exon 1 VAR_009470 P07949:p.Cys609Gly SP substitution exon 1 VAR_009471 P07949:p.Cys609Arg SP substitution exon 1 VAR_009472 P07949:p.Cys611Gly SP substitution exon 1 VAR_009473 P07949:p.Cys611Arg SP substitution exon 1 VAR_009474 P07949:p.Cys611Ser SP substitution exon 1 VAR_009475 P07949:p.Cys620Trp SP substitution exon 1 VAR_009476 P07949:p.Gln626Lys SP substitution exon 1 VAR_009477 P07949:p.Cys630Ser SP substitution exon 1 VAR_009478 P07949:p.Cys630Tyr SP substitution exon 1 VAR_009480 P07949:p.Ala640Gly SP substitution exon 1 VAR_009481 P07949:p.Glu762Gln SP substitution exon 1 VAR_009482 P07949:p.Leu790Phe SP substitution exon 1 VAR_009483 P07949:p.Tyr791Phe SP substitution exon 1 VAR_009484 P07949:p.Arg813Gln SP substitution exon 1 VAR_009485 P07949:p.Ala883Phe SP substitution exon 1 VAR_009486 P07949:p.Ser891Ala SP substitution exon 1 VAR_009487 P07949:p.Ser922Tyr SP substitution exon 1 VAR_009488 P07949:p.Pro1039Gln SP substitution exon 1 VAR_009490 P07949:p.Leu1061Pro SP substitution exon 1 VAR_009491 P07949:p.Met1064Thr SP substitution exon 1 VAR_009492 P07949:p.Leu40Pro SP substitution exon 1 VAR_009493 P07949:p.Ser765Pro SP substitution exon 1 VAR_009494 P39905:p.Pro21Ser SP substitution exon 1 VAR_009495 P39905:p.Arg93Trp SP substitution exon 1 VAR_009496 P39905:p.Asp150Asn SP substitution exon 1 VAR_009497 P39905:p.Thr154Ser SP substitution exon 1 VAR_009498 Q99748:p.Ala96Ser SP substitution exon 1 VAR_009499 O00337:p.Glu34Gly SP substitution exon 1 VAR_009501 O00337:p.Val189Ile SP substitution exon 1 VAR_009502 O00337:p.Asn409Ser SP substitution exon 1 VAR_009503 O00337:p.Asp521Asn SP substitution exon 1 VAR_009504 P22309:p.Gly71Arg SP substitution exon 1 VAR_009505 P22309:p.Pro229Gln SP substitution exon 1 VAR_009506 P22310:p.Leu132Pro SP substitution exon 1 VAR_009507 P22310:p.Tyr487Asp SP substitution exon 1 VAR_009508 P16615:p.Thr357Lys SP substitution exon 1 VAR_009509 P16615:p.Gly749Arg SP substitution exon 1 VAR_009510 P18440:p.Arg117Thr SP substitution exon 1 VAR_009512 Q12805:p.Ile220Phe SP substitution exon 1 VAR_009513 Q12805:p.Arg345Trp SP substitution exon 1 VAR_009514 P48553:p.Val257Glu SP substitution exon 1 VAR_009515 P48553:p.Ile633Met SP substitution exon 1 VAR_009517 P15735:p.Val106Glu SP substitution exon 1 VAR_009518 P15735:p.Gly189Glu SP substitution exon 1 VAR_009519 O15527:p.Arg46Gln SP substitution exon 1 VAR_009520 O15527:p.Arg154His SP substitution exon 1 VAR_009521 O15527:p.Ser326Cys SP substitution exon 1 VAR_009522 Q01726:p.Arg67Gln SP substitution exon 1 VAR_009523 Q01726:p.Arg163Gln SP substitution exon 1 VAR_009524 P35372:p.Asn40Asp SP substitution exon 1 VAR_009525 P35372:p.Ala6Val SP substitution exon 1 VAR_009526 P35372:p.Ser147Cys SP substitution exon 1 VAR_009527 P35372:p.Arg260His SP substitution exon 1 VAR_009528 P42898:p.Ala222Val SP substitution exon 1 VAR_009529 P42898:p.Glu428Ala SP substitution exon 1 VAR_009530 P42898:p.Arg51Pro SP substitution exon 1 VAR_009531 P42898:p.Leu323Pro SP substitution exon 1 VAR_009532 P42898:p.Asn324Ser SP substitution exon 1 VAR_009533 P42898:p.Trp339Gly SP substitution exon 1 VAR_009534 P42898:p.Arg377Cys SP substitution exon 1 VAR_009535 P42898:p.Gly387Asp SP substitution exon 1 VAR_009536 P42898:p.Pro572Leu SP substitution exon 1 VAR_009537 P42898:p.Glu586Lys SP substitution exon 1 VAR_009538 P08246:p.Gly32Val SP substitution exon 1 VAR_009539 P08246:p.Val177Phe SP substitution exon 1 VAR_009540 P08246:p.Arg191Gln SP substitution exon 1 VAR_009541 P53634:p.Val249Phe SP substitution exon 1 VAR_009542 P53634:p.Gln252Leu SP substitution exon 1 VAR_009543 P53634:p.Arg272Pro SP substitution exon 1 VAR_009544 P53634:p.Gly301Ser SP substitution exon 1 VAR_009547 Q99456:p.Arg20Trp SP substitution exon 1 VAR_009548 P20807:p.Val4Ile SP substitution exon 1 VAR_009549 P20807:p.Pro26Leu SP substitution exon 1 VAR_009550 P20807:p.Asp77Asn SP substitution exon 1 VAR_009551 P20807:p.Ser86Phe SP substitution exon 1 VAR_009553 P20807:p.Glu107Lys SP substitution exon 1 VAR_009554 P20807:p.Arg118Gly SP substitution exon 1 VAR_009555 P20807:p.Cys137Arg SP substitution exon 1 VAR_009556 P20807:p.Ile162Leu SP substitution exon 1 VAR_009557 P20807:p.Pro183Leu SP substitution exon 1 VAR_009558 P20807:p.Thr184Met SP substitution exon 1 VAR_009559 P20807:p.Leu189Pro SP substitution exon 1 VAR_009560 P20807:p.Gly214Ser SP substitution exon 1 VAR_009561 P20807:p.Ser215Pro SP substitution exon 1 VAR_009563 P20807:p.Glu217Lys SP substitution exon 1 VAR_009564 P20807:p.Gly222Arg SP substitution exon 1 VAR_009565 P20807:p.Glu226Lys SP substitution exon 1 VAR_009566 P20807:p.Thr232Ile SP substitution exon 1 VAR_009567 P20807:p.Ala236Thr SP substitution exon 1 VAR_009569 P20807:p.Pro319Leu SP substitution exon 1 VAR_009570 P20807:p.His334Gln SP substitution exon 1 VAR_009571 P20807:p.Tyr336Asn SP substitution exon 1 VAR_009572 P20807:p.Trp360Cys SP substitution exon 1 VAR_009573 P20807:p.Arg437Cys SP substitution exon 1 VAR_009574 P20807:p.Arg440Trp SP substitution exon 1 VAR_009575 P20807:p.Gly441Asp SP substitution exon 1 VAR_009576 P20807:p.Gly445Arg SP substitution exon 1 VAR_009577 P20807:p.Arg448Cys SP substitution exon 1 VAR_009578 P20807:p.Arg448Gly SP substitution exon 1 VAR_009579 P20807:p.Arg448His SP substitution exon 1 VAR_009580 P20807:p.Ser479Gly SP substitution exon 1 VAR_009581 P20807:p.Gln486Glu SP substitution exon 1 VAR_009582 P20807:p.Arg489Gln SP substitution exon 1 VAR_009583 P20807:p.Arg489Trp SP substitution exon 1 VAR_009584 P20807:p.Arg490Gln SP substitution exon 1 VAR_009585 P20807:p.Arg493Trp SP substitution exon 1 VAR_009586 P20807:p.Gly496Arg SP substitution exon 1 VAR_009587 P20807:p.Ile502Thr SP substitution exon 1 VAR_009588 P20807:p.Arg541Gln SP substitution exon 1 VAR_009589 P20807:p.Gly567Trp SP substitution exon 1 VAR_009590 P20807:p.Arg572Trp SP substitution exon 1 VAR_009591 P20807:p.Ser606Leu SP substitution exon 1 VAR_009592 P20807:p.Gln638Pro SP substitution exon 1 VAR_009593 P20807:p.Arg698Pro SP substitution exon 1 VAR_009594 P20807:p.Ala702Val SP substitution exon 1 VAR_009595 P20807:p.Asp705Gly SP substitution exon 1 VAR_009596 P20807:p.Asp705His SP substitution exon 1 VAR_009597 P20807:p.Phe731Ser SP substitution exon 1 VAR_009598 P20807:p.Arg748Gln SP substitution exon 1 VAR_009599 P20807:p.His774Asp SP substitution exon 1 VAR_009600 P20807:p.Ala798Glu SP substitution exon 1 VAR_009601 O15119:p.Leu143Pro SP substitution exon 1 VAR_009602 O15119:p.Tyr149Ser SP substitution exon 1 VAR_009603 O14773:p.Gly77Arg SP substitution exon 1 VAR_009604 O14773:p.Gln100Arg SP substitution exon 1 VAR_009605 O14773:p.Arg206Cys SP substitution exon 1 VAR_009606 O14773:p.Ile287Asn SP substitution exon 1 VAR_009613 P25054:p.Arg99Trp SP substitution exon 1 VAR_009614 P25054:p.Ser722Gly SP substitution exon 1 VAR_009615 P25054:p.Glu1057Gly SP substitution exon 1 VAR_009616 P25054:p.Ala1184Pro SP substitution exon 1 VAR_009617 P25054:p.Glu1317Gln SP substitution exon 1 VAR_009618 Q93099:p.Leu25Pro SP substitution exon 1 VAR_009619 Q93099:p.Glu168Lys SP substitution exon 1 VAR_009620 Q93099:p.Gly270Arg SP substitution exon 1 VAR_009621 P35573:p.Arg387Gln SP substitution exon 1 VAR_009622 P35573:p.Glu1343Lys SP substitution exon 1 VAR_009623 P04629:p.Arg85Ser SP substitution exon 1 VAR_009624 P04629:p.Leu93Pro SP substitution exon 1 VAR_009625 P04629:p.Leu213Pro SP substitution exon 1 VAR_009626 P04629:p.Gly522Arg SP substitution exon 1 VAR_009627 P04629:p.Met587Val SP substitution exon 1 VAR_009628 P04629:p.His604Tyr SP substitution exon 1 VAR_009629 P04629:p.Gly613Val SP substitution exon 1 VAR_009630 P04629:p.Arg649Trp SP substitution exon 1 VAR_009631 P04629:p.Arg654Cys SP substitution exon 1 VAR_009632 P04629:p.Asp674Tyr SP substitution exon 1 VAR_009633 P04629:p.Pro695Leu SP substitution exon 1 VAR_009634 P04629:p.Gly714Ser SP substitution exon 1 VAR_009635 P04629:p.Arg780Pro SP substitution exon 1 VAR_009636 P04629:p.Arg780Gln SP substitution exon 1 VAR_009637 O15360:p.Val6Asp SP substitution exon 1 VAR_009638 O15360:p.Asn8Lys SP substitution exon 1 VAR_009639 O15360:p.Ala181Val SP substitution exon 1 VAR_009640 O15360:p.Leu244Phe SP substitution exon 1 VAR_009641 O15360:p.Asp252Gly SP substitution exon 1 VAR_009642 O15360:p.Arg435Cys SP substitution exon 1 VAR_009643 O15360:p.His492Arg SP substitution exon 1 VAR_009644 O15360:p.Gly501Ser SP substitution exon 1 VAR_009645 O15360:p.Pro739Leu SP substitution exon 1 VAR_009646 O15360:p.Gly809Asp SP substitution exon 1 VAR_009647 O15360:p.Leu817Pro SP substitution exon 1 VAR_009648 O15360:p.Leu845Pro SP substitution exon 1 VAR_009649 O15360:p.Arg1055Leu SP substitution exon 1 VAR_009650 O15360:p.His1110Pro SP substitution exon 1 VAR_009651 O15360:p.Arg1117Gly SP substitution exon 1 VAR_009652 O15360:p.Gln1128Glu SP substitution exon 1 VAR_009653 O15360:p.Thr1131Ala SP substitution exon 1 VAR_009655 O15360:p.Val1287Ile SP substitution exon 1 VAR_009656 O15360:p.Trp1302Arg SP substitution exon 1 VAR_009657 O15360:p.Thr1328Ala SP substitution exon 1 VAR_009658 O15360:p.His1417Asp SP substitution exon 1 VAR_009659 Q01453:p.Val30Met SP substitution exon 1 VAR_009660 Q01453:p.Asp37Val SP substitution exon 1 VAR_009661 Q01453:p.Ala67Pro SP substitution exon 1 VAR_009662 Q01453:p.Gly93Arg SP substitution exon 1 VAR_009663 Q01453:p.Arg157Gly SP substitution exon 1 VAR_009664 Q01453:p.Arg157Trp SP substitution exon 1 VAR_009665 Q99972:p.Phe4Ser SP substitution exon 1 VAR_009666 Q99972:p.Cys9Ser SP substitution exon 1 VAR_009667 Q99972:p.Gly12Arg SP substitution exon 1 VAR_009668 Q99972:p.Gln19His SP substitution exon 1 VAR_009669 Q99972:p.Asn73Ser SP substitution exon 1 VAR_009670 Q99972:p.Arg76Lys SP substitution exon 1 VAR_009671 Q99972:p.Arg82Cys SP substitution exon 1 VAR_009672 Q99972:p.Arg82His SP substitution exon 1 VAR_009673 Q99972:p.Arg189Gln SP substitution exon 1 VAR_009674 Q99972:p.Ser203Phe SP substitution exon 1 VAR_009675 Q99972:p.Trp286Arg SP substitution exon 1 VAR_009676 Q99972:p.Thr293Lys SP substitution exon 1 VAR_009677 Q99972:p.Val329Met SP substitution exon 1 VAR_009678 Q99972:p.Glu352Lys SP substitution exon 1 VAR_009679 Q99972:p.Thr353Ile SP substitution exon 1 VAR_009680 Q99972:p.Pro361Ser SP substitution exon 1 VAR_009681 Q99972:p.Thr377Met SP substitution exon 1 VAR_009682 Q99972:p.Asp380Ala SP substitution exon 1 VAR_009683 Q99972:p.Asp380Gly SP substitution exon 1 VAR_009684 Q99972:p.Ser393Arg SP substitution exon 1 VAR_009685 Q99972:p.Lys398Arg SP substitution exon 1 VAR_009686 Q99972:p.Val402Ile SP substitution exon 1 VAR_009687 Q99972:p.Arg422Cys SP substitution exon 1 VAR_009688 Q99972:p.Arg422His SP substitution exon 1 VAR_009689 Q99972:p.Lys423Glu SP substitution exon 1 VAR_009690 Q99972:p.Ser425Pro SP substitution exon 1 VAR_009691 Q99972:p.Ala445Val SP substitution exon 1 VAR_009692 Q99972:p.Ile465Met SP substitution exon 1 VAR_009693 Q99972:p.Arg470Cys SP substitution exon 1 VAR_009694 Q99972:p.Tyr473Cys SP substitution exon 1 VAR_009695 Q99972:p.Ile477Asn SP substitution exon 1 VAR_009696 Q99972:p.Pro481Leu SP substitution exon 1 VAR_009697 Q99972:p.Pro481Thr SP substitution exon 1 VAR_009698 Q99972:p.Val495Ile SP substitution exon 1 VAR_009699 Q99972:p.Lys500Arg SP substitution exon 1 VAR_009700 Q99972:p.Ser502Pro SP substitution exon 1 VAR_009701 Q99593:p.Gly80Arg SP substitution exon 1 VAR_009702 Q99593:p.Arg237Trp SP substitution exon 1 VAR_009703 P07196:p.Gln332Pro SP substitution exon 1 VAR_009704 Q14541:p.Met190Ile SP substitution exon 1 VAR_009705 O43708:p.Lys32Glu SP substitution exon 1 VAR_009706 O43708:p.Arg42Gly SP substitution exon 1 VAR_009707 O43708:p.Met82Thr SP substitution exon 1 VAR_009708 P19526:p.Leu164His SP substitution exon 1 VAR_009709 P19526:p.Leu242Arg SP substitution exon 1 VAR_009710 O00214:p.Arg36Cys SP substitution exon 1 VAR_009864 Q9NPJ1:p.Tyr37Cys SP substitution exon 1 VAR_009865 Q9NPJ1:p.Gly49Val SP substitution exon 1 VAR_009866 Q9NPJ1:p.His84Tyr SP substitution exon 1 VAR_009867 Q9NPJ1:p.Ala242Ser SP substitution exon 1 VAR_009868 Q9NPJ1:p.Arg517Cys SP substitution exon 1 VAR_009869 Q9NPJ1:p.Gly532Val SP substitution exon 1 VAR_009871 P01588:p.Pro149Gln SP substitution exon 1 VAR_009873 O43623:p.Asp119Glu SP substitution exon 1 VAR_009874 P11161:p.Arg359Trp SP substitution exon 1 VAR_009875 P11161:p.Arg381His SP substitution exon 1 VAR_009876 P10071:p.Gly727Arg SP substitution exon 1 VAR_009877 Q15776:p.Pro163Leu SP substitution exon 1 VAR_009878 P19367:p.Leu529Ser SP substitution exon 1 VAR_009879 P08588:p.Ser49Gly SP substitution exon 1 VAR_009880 P08588:p.Arg389Gly SP substitution exon 1 VAR_009881 Q01432:p.Arg573Cys SP substitution exon 1 VAR_009882 Q9NPJ1:p.Gly52Asp SP substitution exon 1 VAR_009883 Q9NPJ1:p.Thr57Ala SP substitution exon 1 VAR_009884 Q9NPJ1:p.Leu277Pro SP substitution exon 1 VAR_009885 P08514:p.Pro176Ala SP substitution exon 1 VAR_009886 P08514:p.Pro176Leu SP substitution exon 1 VAR_009887 P08514:p.Phe320Ser SP substitution exon 1 VAR_009888 P08514:p.Glu355Lys SP substitution exon 1 VAR_009889 Q9UKX5:p.Val433Met SP substitution exon 1 VAR_009890 Q9UKX5:p.Leu524Arg SP substitution exon 1 VAR_009891 Q9UKX5:p.Pro972Leu SP substitution exon 1 VAR_009892 Q9UKX5:p.Met1003Ile SP substitution exon 1 VAR_009894 Q9UKX5:p.Leu1093Val SP substitution exon 1 VAR_009895 P13569:p.Leu138Pro SP substitution exon 1 VAR_009896 P13569:p.Arg170His SP substitution exon 1 VAR_009897 P13569:p.Ser182Gly SP substitution exon 1 VAR_009898 P13569:p.Val322Met SP substitution exon 1 VAR_009899 P13569:p.Thr351Ser SP substitution exon 1 VAR_009900 P13569:p.Gln353His SP substitution exon 1 VAR_009901 P13569:p.Ile506Met SP substitution exon 1 VAR_009902 P13569:p.Ser654Gly SP substitution exon 1 VAR_009906 P15382:p.Arg32His SP substitution exon 1 VAR_009907 P15382:p.Arg98Trp SP substitution exon 1 VAR_009908 P15382:p.Pro127Thr SP substitution exon 1 VAR_009909 Q12809:p.Gly47Val SP substitution exon 1 VAR_009910 Q12809:p.Pro72Gln SP substitution exon 1 VAR_009911 Q12809:p.Arg312Cys SP substitution exon 1 VAR_009912 Q12809:p.Pro347Ser SP substitution exon 1 VAR_009913 Q12809:p.Arg531Gln SP substitution exon 1 VAR_009914 Q12809:p.Trp585Cys SP substitution exon 1 VAR_009915 Q12809:p.Ile593Thr SP substitution exon 1 VAR_009916 Q12809:p.Asp609Asn SP substitution exon 1 VAR_009918 P51787:p.Tyr111Cys SP substitution exon 1 VAR_009919 P51787:p.Glu160Lys SP substitution exon 1 VAR_009920 P51787:p.Ala178Thr SP substitution exon 1 VAR_009921 P51787:p.Gly179Ser SP substitution exon 1 VAR_009922 P51787:p.Ala194Pro SP substitution exon 1 VAR_009923 P51787:p.Ser225Leu SP substitution exon 1 VAR_009924 P51787:p.Leu266Pro SP substitution exon 1 VAR_009925 P51787:p.Gly269Ser SP substitution exon 1 VAR_009926 P51787:p.Val310Ile SP substitution exon 1 VAR_009927 P51787:p.Thr311Ile SP substitution exon 1 VAR_009928 P51787:p.Ser349Trp SP substitution exon 1 VAR_009929 P51787:p.Arg366Gln SP substitution exon 1 VAR_009935 Q14524:p.Asp1114Asn SP substitution exon 1 VAR_009936 Q14524:p.Leu1501Val SP substitution exon 1 VAR_009937 Q14524:p.Arg1623Leu SP substitution exon 1 VAR_009938 Q14524:p.Ser1787Asn SP substitution exon 1 VAR_009941 O14593:p.Leu195Pro SP substitution exon 1 VAR_009942 P57679:p.Gln74Pro SP substitution exon 1 VAR_009943 P57679:p.Tyr258His SP substitution exon 1 VAR_009944 P57679:p.Ser307Pro SP substitution exon 1 VAR_009945 P57679:p.Gly403Ser SP substitution exon 1 VAR_009946 P57679:p.Arg443Gln SP substitution exon 1 VAR_009947 P57679:p.Thr449Lys SP substitution exon 1 VAR_009948 P57679:p.Arg576Gln SP substitution exon 1 VAR_009949 P57679:p.Arg760Gln SP substitution exon 1 VAR_009950 P57679:p.Asp953Gly SP substitution exon 1 VAR_009952 Q9NYJ7:p.Gly385Asp SP substitution exon 1 VAR_009953 O00233:p.Val17Ala SP substitution exon 1 VAR_009954 Q9Y5R6:p.Ser45Thr SP substitution exon 1 VAR_009955 Q9Y5R6:p.Tyr221Ser SP substitution exon 1 VAR_009958 P25021:p.Asn217Asp SP substitution exon 1 VAR_009959 P25021:p.Lys231Arg SP substitution exon 1 VAR_009960 P25021:p.Val268Met SP substitution exon 1 VAR_009961 Q15583:p.Ser157Cys SP substitution exon 1 VAR_009962 Q15583:p.Pro192Arg SP substitution exon 1 VAR_009965 P29033:p.Gly59Ala SP substitution exon 1 VAR_009966 P29033:p.Glu114Gly SP substitution exon 1 VAR_009967 P29033:p.Val153Ile SP substitution exon 1 VAR_009968 P29033:p.Cys169Tyr SP substitution exon 1 VAR_009969 P29033:p.Arg184Trp SP substitution exon 1 VAR_009970 P29033:p.Ile203Thr SP substitution exon 1 VAR_009971 P02545:p.Tyr45Cys SP substitution exon 1 VAR_009972 P02545:p.Arg50Pro SP substitution exon 1 VAR_009974 P02545:p.Ile63Ser SP substitution exon 1 VAR_009975 P02545:p.Leu85Arg SP substitution exon 1 VAR_009977 P02545:p.Asn195Lys SP substitution exon 1 VAR_009978 P02545:p.Glu203Gly SP substitution exon 1 VAR_009979 P02545:p.His222Tyr SP substitution exon 1 VAR_009980 P02545:p.Arg249Gln SP substitution exon 1 VAR_009982 P02545:p.Gln294Pro SP substitution exon 1 VAR_009983 P02545:p.Arg336Gln SP substitution exon 1 VAR_009984 P02545:p.Arg343Gln SP substitution exon 1 VAR_009985 P02545:p.Glu358Lys SP substitution exon 1 VAR_009986 P02545:p.Met371Lys SP substitution exon 1 VAR_009987 P02545:p.Arg386Lys SP substitution exon 1 VAR_009988 P02545:p.Arg453Trp SP substitution exon 1 VAR_009989 P02545:p.Gly465Asp SP substitution exon 1 VAR_009990 P02545:p.Ile469Thr SP substitution exon 1 VAR_009991 P02545:p.Arg482Leu SP substitution exon 1 VAR_009992 P02545:p.Arg482Gln SP substitution exon 1 VAR_009993 P02545:p.Arg482Trp SP substitution exon 1 VAR_009994 P02545:p.Lys486Asn SP substitution exon 1 VAR_009995 P02545:p.Arg527Pro SP substitution exon 1 VAR_009996 P02545:p.Thr528Lys SP substitution exon 1 VAR_009997 P02545:p.Leu530Pro SP substitution exon 1 VAR_009998 P02545:p.Arg582His SP substitution exon 1 VAR_009999 Q04656:p.Ser637Leu SP substitution exon 1 VAR_010000 Q04656:p.Val767Leu SP substitution exon 1 VAR_010001 Q04656:p.Leu873Arg SP substitution exon 1 VAR_010002 Q04656:p.Gly876Glu SP substitution exon 1 VAR_010003 Q04656:p.Cys1000Arg SP substitution exon 1 VAR_010004 Q04656:p.Gly1300Glu SP substitution exon 1 VAR_010005 Q04656:p.Gly1302Arg SP substitution exon 1 VAR_010006 Q04656:p.Gly1302Val SP substitution exon 1 VAR_010007 Q04656:p.Asp1305Ala SP substitution exon 1 VAR_010008 Q04656:p.Ala1362Val SP substitution exon 1 VAR_010010 P35670:p.Gly710Ala SP substitution exon 1 VAR_010022 P23975:p.Ala457Pro SP substitution exon 1 VAR_010023 P27986:p.Met326Ile SP substitution exon 1 VAR_010025 Q9Y5X4:p.Arg97His SP substitution exon 1 VAR_010026 Q9Y5X4:p.Arg104Trp SP substitution exon 1 VAR_010027 Q9Y5X4:p.Glu121Lys SP substitution exon 1 VAR_010028 Q9Y5X4:p.Glu140Gly SP substitution exon 1 VAR_010029 Q9Y5X4:p.Met163Thr SP substitution exon 1 VAR_010030 Q9Y5X4:p.Val232Ile SP substitution exon 1 VAR_010031 Q9Y5X4:p.Trp234Ser SP substitution exon 1 VAR_010032 Q9Y5X4:p.Val302Ile SP substitution exon 1 VAR_010033 Q9Y5X4:p.Arg309Gly SP substitution exon 1 VAR_010034 Q9Y5X4:p.Arg311Gln SP substitution exon 1 VAR_010038 O14521:p.Pro81Leu SP substitution exon 1 VAR_010039 O14521:p.Asp92Tyr SP substitution exon 1 VAR_010040 O14521:p.His102Leu SP substitution exon 1 VAR_010041 P49238:p.Thr57Ala SP substitution exon 1 VAR_010042 P49238:p.Val122Ile SP substitution exon 1 VAR_010043 P49238:p.Val249Ile SP substitution exon 1 VAR_010044 P49238:p.Thr280Met SP substitution exon 1 VAR_010045 P06400:p.Gly310Glu SP substitution exon 1 VAR_010046 P06400:p.Arg358Gly SP substitution exon 1 VAR_010048 P06400:p.Lys447Gln SP substitution exon 1 VAR_010049 P06400:p.Lys530Arg SP substitution exon 1 VAR_010050 P06400:p.Leu657Pro SP substitution exon 1 VAR_010051 Q16637:p.Pro245Leu SP substitution exon 1 VAR_010052 P10071:p.Asp440Glu SP substitution exon 1 VAR_010053 P10071:p.Cys515Gly SP substitution exon 1 VAR_010054 P10071:p.Cys520Tyr SP substitution exon 1 VAR_010055 P10071:p.Pro707Ser SP substitution exon 1 VAR_010056 P10071:p.Ile808Met SP substitution exon 1 VAR_010058 Q14376:p.Val94Met SP substitution exon 1 VAR_010059 P04062:p.Ile200Ser SP substitution exon 1 VAR_010060 P04062:p.Gly228Val SP substitution exon 1 VAR_010061 P04062:p.Gly241Glu SP substitution exon 1 VAR_010062 P04062:p.Tyr244Cys SP substitution exon 1 VAR_010063 P04062:p.Gly304Asp SP substitution exon 1 VAR_010064 P04062:p.Ser310Asn SP substitution exon 1 VAR_010065 P04062:p.Val391Leu SP substitution exon 1 VAR_010066 P04062:p.Arg392Gly SP substitution exon 1 VAR_010067 P04062:p.Ser405Gly SP substitution exon 1 VAR_010068 P04062:p.Val414Leu SP substitution exon 1 VAR_010069 P04062:p.Pro426Leu SP substitution exon 1 VAR_010070 P04062:p.Val437Leu SP substitution exon 1 VAR_010071 P04062:p.Pro440Leu SP substitution exon 1 VAR_010072 P04062:p.Ile441Thr SP substitution exon 1 VAR_010076 O60832:p.Ala2Val SP substitution exon 1 VAR_010077 O60832:p.Lys39Glu SP substitution exon 1 VAR_010078 O60832:p.Glu41Lys SP substitution exon 1 VAR_010079 O60832:p.Arg65Thr SP substitution exon 1 VAR_010080 O60832:p.Thr66Ala SP substitution exon 1 VAR_010081 O60832:p.Leu321Val SP substitution exon 1 VAR_010082 O60832:p.Met350Ile SP substitution exon 1 VAR_010083 O60832:p.Met350Thr SP substitution exon 1 VAR_010084 O60832:p.Gly402Arg SP substitution exon 1 VAR_010085 P98161:p.Arg324Leu SP substitution exon 1 VAR_010086 P98161:p.Leu845Ser SP substitution exon 1 VAR_010087 P98161:p.Trp1399Arg SP substitution exon 1 VAR_010088 P98161:p.Pro1786Leu SP substitution exon 1 VAR_010089 P98161:p.Leu2993Pro SP substitution exon 1 VAR_010090 P98161:p.Gln3016Arg SP substitution exon 1 VAR_010091 P98161:p.Thr3510Met SP substitution exon 1 VAR_010092 P98161:p.Leu3511Val SP substitution exon 1 VAR_010093 P98161:p.Ser3562Asn SP substitution exon 1 VAR_010095 P98161:p.Ala4059Val SP substitution exon 1 VAR_010096 P98161:p.Arg4136Gly SP substitution exon 1 VAR_010097 P98161:p.Arg4154Cys SP substitution exon 1 VAR_010098 P98161:p.Ser4190Phe SP substitution exon 1 VAR_010099 P98161:p.Gln4225Pro SP substitution exon 1 VAR_010100 P98161:p.Arg4276Trp SP substitution exon 1 VAR_010101 P49748:p.Ala213Pro SP substitution exon 1 VAR_010102 P49748:p.Lys247Glu SP substitution exon 1 VAR_010103 P49748:p.Phe458Leu SP substitution exon 1 VAR_010104 P49748:p.Ala490Pro SP substitution exon 1 VAR_010105 P49748:p.Glu534Lys SP substitution exon 1 VAR_010107 P05067:p.Glu665Asp SP substitution exon 1 VAR_010108 P05067:p.Val715Met SP substitution exon 1 VAR_010109 P05067:p.Leu723Pro SP substitution exon 1 VAR_010110 P35498:p.Thr875Met SP substitution exon 1 VAR_010111 P35498:p.Arg1648His SP substitution exon 1 VAR_010112 P23415:p.Pro278Thr SP substitution exon 1 VAR_010113 P23415:p.Arg280His SP substitution exon 1 VAR_010114 P23415:p.Arg428His SP substitution exon 1 VAR_010115 P15976:p.Val205Met SP substitution exon 1 VAR_010116 P52952:p.Arg25Cys SP substitution exon 1 VAR_010117 P52952:p.Asn188Lys SP substitution exon 1 VAR_010118 P52952:p.Arg189Gly SP substitution exon 1 VAR_010119 P52952:p.Tyr191Cys SP substitution exon 1 VAR_010120 P49768:p.Thr116Asn SP substitution exon 1 VAR_010121 P49768:p.Asn135Asp SP substitution exon 1 VAR_010122 P49768:p.Met139Lys SP substitution exon 1 VAR_010123 P49768:p.Thr147Ile SP substitution exon 1 VAR_010124 P49768:p.Trp165Cys SP substitution exon 1 VAR_010125 P49768:p.Leu173Trp SP substitution exon 1 VAR_010126 P49768:p.Leu219Pro SP substitution exon 1 VAR_010127 P49768:p.Ser289Cys SP substitution exon 1 VAR_010128 P49768:p.Ser390Ile SP substitution exon 1 VAR_010129 P49768:p.Asn405Ser SP substitution exon 1 VAR_010130 P98194:p.Pro201Leu SP substitution exon 1 VAR_010131 P98194:p.Cys344Tyr SP substitution exon 1 VAR_010132 P98194:p.Thr570Ile SP substitution exon 1 VAR_010133 Q9Y215:p.Pro59Gln SP substitution exon 1 VAR_010139 Q9NZN9:p.Cys239Arg SP substitution exon 1 VAR_010140 Q9NZN9:p.Asp90His SP substitution exon 1 VAR_010141 Q92466:p.Lys244Glu SP substitution exon 1 VAR_010142 Q92466:p.Arg273His SP substitution exon 1 VAR_010144 P68871:p.Leu115Met SP substitution exon 1 VAR_010145 P68871:p.Leu115Pro SP substitution exon 1 VAR_010148 O75899:p.Tyr628Phe SP substitution exon 1 VAR_010149 O75899:p.Thr869Ala SP substitution exon 1 VAR_010154 P22888:p.Cys131Arg SP substitution exon 1 VAR_010155 P22888:p.Cys343Ser SP substitution exon 1 VAR_010156 P22888:p.Leu457Arg SP substitution exon 1 VAR_010157 P22888:p.Ile542Leu SP substitution exon 1 VAR_010158 P22888:p.Cys543Arg SP substitution exon 1 VAR_010159 P22888:p.Asp564Gly SP substitution exon 1 VAR_010160 P22888:p.Ile575Leu SP substitution exon 1 VAR_010161 P22888:p.Asp578Glu SP substitution exon 1 VAR_010162 P22888:p.Asp578His SP substitution exon 1 VAR_010163 P22888:p.Asp578Tyr SP substitution exon 1 VAR_010164 P22888:p.Cys581Arg SP substitution exon 1 VAR_010165 Q07699:p.Cys121Trp SP substitution exon 1 VAR_010166 P28335:p.Ile156Val SP substitution exon 1 VAR_010167 P28335:p.Asn158Ser SP substitution exon 1 VAR_010168 P28335:p.Ile160Val SP substitution exon 1 VAR_010169 Q01968:p.Arg337Pro SP substitution exon 1 VAR_010170 Q01968:p.Gly357Glu SP substitution exon 1 VAR_010172 Q01968:p.Val372Gly SP substitution exon 1 VAR_010173 Q01968:p.His375Tyr SP substitution exon 1 VAR_010174 Q01968:p.Gly421Glu SP substitution exon 1 VAR_010175 Q01968:p.Asn424Asp SP substitution exon 1 VAR_010176 Q01968:p.Asp451Gly SP substitution exon 1 VAR_010177 Q01968:p.Phe463Ser SP substitution exon 1 VAR_010178 Q01968:p.Cys498Tyr SP substitution exon 1 VAR_010179 Q01968:p.Arg500Gly SP substitution exon 1 VAR_010180 Q01968:p.Arg500Gln SP substitution exon 1 VAR_010181 Q01968:p.Val508Asp SP substitution exon 1 VAR_010182 Q01968:p.Tyr513Cys SP substitution exon 1 VAR_010183 Q01968:p.Ser522Arg SP substitution exon 1 VAR_010184 Q01968:p.His524Gln SP substitution exon 1 VAR_010185 Q01968:p.His524Arg SP substitution exon 1 VAR_010187 Q01968:p.Ile533Ser SP substitution exon 1 VAR_010188 Q01968:p.Ile768Asn SP substitution exon 1 VAR_010189 Q01968:p.Ala797Pro SP substitution exon 1 VAR_010190 O75912:p.Leu153Phe SP substitution exon 1 VAR_010191 P15812:p.Gln106Arg SP substitution exon 1 VAR_010192 P15812:p.Arg164Trp SP substitution exon 1 VAR_010193 P15812:p.Leu194Pro SP substitution exon 1 VAR_010194 Q9UBP0:p.Ser44Leu SP substitution exon 1 VAR_010195 Q9UBP0:p.Ser362Cys SP substitution exon 1 VAR_010196 Q9UBP0:p.Arg424Gly SP substitution exon 1 VAR_010197 Q9UBP0:p.Cys448Tyr SP substitution exon 1 VAR_010198 Q9UBP0:p.Arg499Cys SP substitution exon 1 VAR_010199 Q9UBP0:p.Asp584His SP substitution exon 1 VAR_010201 P35548:p.Arg172His SP substitution exon 1 VAR_010202 O43602:p.Arg159His SP substitution exon 1 VAR_010203 P43034:p.Ser169Pro SP substitution exon 1 VAR_010204 P05362:p.Lys56Met SP substitution exon 1 VAR_010206 Q9NTQ9:p.Phe137Leu SP substitution exon 1 VAR_010207 Q15738:p.Ala105Val SP substitution exon 1 VAR_010208 Q15738:p.Gly205Ser SP substitution exon 1 VAR_010209 P06126:p.Thr30Ile SP substitution exon 1 VAR_010210 P06126:p.Cys68Trp SP substitution exon 1 VAR_010211 P15813:p.Thr64Ser SP substitution exon 1 VAR_010212 P01266:p.Gln135His SP substitution exon 1 VAR_010213 P01266:p.Ser734Ala SP substitution exon 1 VAR_010214 P01266:p.Gln830Glu SP substitution exon 1 VAR_010215 P01266:p.Met1028Val SP substitution exon 1 VAR_010216 P01266:p.Cys1264Arg SP substitution exon 1 VAR_010217 P01266:p.Asp1312Gly SP substitution exon 1 VAR_010223 Q13621:p.Val272Phe SP substitution exon 1 VAR_010224 Q13621:p.Asp648Asn SP substitution exon 1 VAR_010225 Q9UBX0:p.Arg160Cys SP substitution exon 1 VAR_010226 P30953:p.Ala143Thr SP substitution exon 1 VAR_010230 O14830:p.Ser120Arg SP substitution exon 1 VAR_010231 Q9NP85:p.Pro20Leu SP substitution exon 1 VAR_010232 Q9NP85:p.Gly92Cys SP substitution exon 1 VAR_010233 Q9NP85:p.Arg138Gln SP substitution exon 1 VAR_010234 Q9NP85:p.Asp160Gly SP substitution exon 1 VAR_010235 Q9NP85:p.Val180Met SP substitution exon 1 VAR_010236 Q9NP85:p.Arg291Trp SP substitution exon 1 VAR_010237 O60220:p.Cys66Trp SP substitution exon 1 VAR_010238 P08559:p.Arg10Pro SP substitution exon 1 VAR_010241 P11586:p.Arg293His SP substitution exon 1 VAR_010242 P04275:p.Arg273Trp SP substitution exon 1 VAR_010248 O60779:p.Gly172Asp SP substitution exon 1 VAR_010249 O60779:p.Asp93His SP substitution exon 1 VAR_010250 O60779:p.Ser143Phe SP substitution exon 1 VAR_010251 P11586:p.Arg653Gln SP substitution exon 1 VAR_010252 P50135:p.Thr105Ile SP substitution exon 1 VAR_010254 Q9UBR2:p.Pro36Ser SP substitution exon 1 VAR_010255 Q9UBR2:p.Ala129Arg SP substitution exon 1 VAR_010256 P82251:p.Gly105Arg SP substitution exon 1 VAR_010257 P82251:p.Val170Met SP substitution exon 1 VAR_010258 P82251:p.Ala182Thr SP substitution exon 1 VAR_010259 P82251:p.Gly195Arg SP substitution exon 1 VAR_010260 P82251:p.Gly259Arg SP substitution exon 1 VAR_010261 Q9UM01:p.Gly54Val SP substitution exon 1 VAR_010262 Q9UM01:p.Leu334Arg SP substitution exon 1 VAR_010263 Q92911:p.Gly93Arg SP substitution exon 1 VAR_010264 Q92911:p.Ala102Pro SP substitution exon 1 VAR_010265 Q92911:p.Gln267Glu SP substitution exon 1 VAR_010266 Q92911:p.Thr354Pro SP substitution exon 1 VAR_010267 Q92911:p.Gly395Arg SP substitution exon 1 VAR_010268 Q92911:p.Thr536Gln SP substitution exon 1 VAR_010269 Q92911:p.Gly543Glu SP substitution exon 1 VAR_010270 Q92911:p.Ser556Gln SP substitution exon 1 VAR_010271 O95342:p.Glu297Gly SP substitution exon 1 VAR_010272 P51608:p.Arg106Trp SP substitution exon 1 VAR_010273 P51608:p.Arg133Cys SP substitution exon 1 VAR_010274 P51608:p.Phe155Ser SP substitution exon 1 VAR_010275 P51608:p.Thr158Met SP substitution exon 1 VAR_010276 P51608:p.Pro101Arg SP substitution exon 1 VAR_010277 P51608:p.Leu124Phe SP substitution exon 1 VAR_010278 P51608:p.Ser134Cys SP substitution exon 1 VAR_010279 P51608:p.Ala140Val SP substitution exon 1 VAR_010280 P51608:p.Pro152Arg SP substitution exon 1 VAR_010281 P51608:p.Ala201Val SP substitution exon 1 VAR_010282 P51608:p.Arg306Cys SP substitution exon 1 VAR_010283 P51608:p.Glu397Lys SP substitution exon 1 VAR_010285 O60931:p.Val42Ile SP substitution exon 1 VAR_010286 O60931:p.Gly169Asp SP substitution exon 1 VAR_010289 O76041:p.Gln187His SP substitution exon 1 VAR_010290 O76041:p.Met351Val SP substitution exon 1 VAR_010291 O76041:p.Asn654Lys SP substitution exon 1 VAR_010292 O76041:p.Thr728Ala SP substitution exon 1 VAR_010293 Q9UBV7:p.Ala186Asp SP substitution exon 1 VAR_010294 Q9UBV7:p.Leu206Pro SP substitution exon 1 VAR_010295 O43516:p.Ala495Gly SP substitution exon 1 VAR_010296 Q9NZJ4:p.Val3369Ala SP substitution exon 1 VAR_010303 Q9UKN7:p.Asn2111Tyr SP substitution exon 1 VAR_010304 Q9UKN7:p.Ile2113Phe SP substitution exon 1 VAR_010305 P49639:p.His73Arg SP substitution exon 1 VAR_010306 Q92685:p.Gly118Asp SP substitution exon 1 VAR_010313 P43628:p.Val9Ala SP substitution exon 1 VAR_010314 P43628:p.Leu32Arg SP substitution exon 1 VAR_010315 P43628:p.Gln56Glu SP substitution exon 1 VAR_010316 P43628:p.His71Arg SP substitution exon 1 VAR_010317 P43628:p.Arg318His SP substitution exon 1 VAR_010319 P43629:p.Ser2Leu SP substitution exon 1 VAR_010320 P43629:p.Leu13Phe SP substitution exon 1 VAR_010321 P43629:p.Met23Val SP substitution exon 1 VAR_010322 P43629:p.Ile68Val SP substitution exon 1 VAR_010323 P43629:p.Ile75Leu SP substitution exon 1 VAR_010324 P43629:p.Ser333Cys SP substitution exon 1 VAR_010325 P43630:p.Pro40Ala SP substitution exon 1 VAR_010326 P43630:p.Leu113Val SP substitution exon 1 VAR_010327 P43630:p.Glu158Asp SP substitution exon 1 VAR_010328 P43630:p.Arg166His SP substitution exon 1 VAR_010329 P43630:p.Ala228Pro SP substitution exon 1 VAR_010330 P43630:p.Ile252Thr SP substitution exon 1 VAR_010336 P43629:p.Gly259Arg SP substitution exon 1 VAR_010337 P55809:p.Gly219Glu SP substitution exon 1 VAR_010338 P55809:p.Val221Met SP substitution exon 1 VAR_010339 P55809:p.Gly324Glu SP substitution exon 1 VAR_010354 Q99728:p.Pro24Ser SP substitution exon 1 VAR_010355 Q99728:p.Lys153Glu SP substitution exon 1 VAR_010356 Q99728:p.Val507Met SP substitution exon 1 VAR_010357 Q99728:p.Cys557Ser SP substitution exon 1 VAR_010358 Q99728:p.Gln564His SP substitution exon 1 VAR_010359 Q99728:p.Arg658Cys SP substitution exon 1 VAR_010360 Q99728:p.Val695Leu SP substitution exon 1 VAR_010361 Q99728:p.Ser761Asn SP substitution exon 1 VAR_010376 O15353:p.Ala283Val SP substitution exon 1 VAR_010378 O43707:p.Lys255Glu SP substitution exon 1 VAR_010379 O43707:p.Thr259Ile SP substitution exon 1 VAR_010380 O43707:p.Ser262Pro SP substitution exon 1 VAR_010381 Q9UNU6:p.Arg234His SP substitution exon 1 VAR_010382 O43490:p.Ala31Gly SP substitution exon 1 VAR_010383 O43490:p.Ala31Ser SP substitution exon 1 VAR_010384 Q14457:p.Ala103Val SP substitution exon 1 VAR_010385 O00292:p.Ser342Asn SP substitution exon 1 VAR_010386 Q99988:p.Ser48Thr SP substitution exon 1 VAR_010387 Q16586:p.Arg77Cys SP substitution exon 1 VAR_010388 Q16586:p.Arg98His SP substitution exon 1 VAR_010389 Q16586:p.Val175Ala SP substitution exon 1 VAR_010390 Q16586:p.Arg284Cys SP substitution exon 1 VAR_010391 Q16585:p.Arg91Leu SP substitution exon 1 VAR_010392 Q16585:p.Arg91Pro SP substitution exon 1 VAR_010393 Q16585:p.Met100Lys SP substitution exon 1 VAR_010394 Q16585:p.Leu108Arg SP substitution exon 1 VAR_010395 Q16585:p.Thr151Arg SP substitution exon 1 VAR_010396 Q92629:p.Glu261Lys SP substitution exon 1 VAR_010397 Q13326:p.Arg116His SP substitution exon 1 VAR_010398 Q13326:p.Cys283Tyr SP substitution exon 1 VAR_010399 Q13326:p.Asn287Ser SP substitution exon 1 VAR_010400 Q9UBX0:p.Asn125Ser SP substitution exon 1 VAR_010401 O15488:p.Ala270Val SP substitution exon 1 VAR_010402 Q16586:p.Pro30Leu SP substitution exon 1 VAR_010403 Q16586:p.Leu31Pro SP substitution exon 1 VAR_010404 Q16586:p.Arg34Cys SP substitution exon 1 VAR_010405 Q16586:p.Arg34His SP substitution exon 1 VAR_010406 Q16586:p.Tyr62His SP substitution exon 1 VAR_010407 Q16586:p.Gly68Glu SP substitution exon 1 VAR_010408 Q16586:p.Arg74Trp SP substitution exon 1 VAR_010409 Q16586:p.Leu89Pro SP substitution exon 1 VAR_010410 Q16586:p.Gly91Arg SP substitution exon 1 VAR_010411 Q16586:p.Ala93Val SP substitution exon 1 VAR_010412 Q16586:p.Asp97Gly SP substitution exon 1 VAR_010413 Q16586:p.Arg98Cys SP substitution exon 1 VAR_010414 Q16586:p.Ile103Thr SP substitution exon 1 VAR_010415 Q16586:p.Ile124Thr SP substitution exon 1 VAR_010416 Q16586:p.Glu137Lys SP substitution exon 1 VAR_010417 Q16586:p.Leu158Phe SP substitution exon 1 VAR_010418 Q16586:p.Val196Ile SP substitution exon 1 VAR_010419 Q16586:p.Pro205His SP substitution exon 1 VAR_010420 Q16586:p.Val242Ala SP substitution exon 1 VAR_010421 Q16585:p.Gln11Glu SP substitution exon 1 VAR_010422 Q16585:p.Arg91Cys SP substitution exon 1 VAR_010423 Q16585:p.Ser114Phe SP substitution exon 1 VAR_010424 Q16585:p.Ile119Phe SP substitution exon 1 VAR_010425 Q16585:p.Gly139Asp SP substitution exon 1 VAR_010426 Q16585:p.Gly167Ser SP substitution exon 1 VAR_010427 Q16585:p.Thr182Ala SP substitution exon 1 VAR_010428 Q16585:p.Tyr184Cys SP substitution exon 1 VAR_010429 Q92629:p.Arg96Gln SP substitution exon 1 VAR_010430 Q13326:p.Gly69Asp SP substitution exon 1 VAR_010431 Q16586:p.Leu173Pro SP substitution exon 1 VAR_010432 Q16586:p.Pro228Gln SP substitution exon 1 VAR_010433 Q16586:p.Val247Met SP substitution exon 1 VAR_010434 P53985:p.Lys204Glu SP substitution exon 1 VAR_010435 P53985:p.Gly472Arg SP substitution exon 1 VAR_010436 P53985:p.Asp490Glu SP substitution exon 1 VAR_010437 P02533:p.Ala94Thr SP substitution exon 1 VAR_010438 P02533:p.Lys116Asn SP substitution exon 1 VAR_010439 P02533:p.Met119Ile SP substitution exon 1 VAR_010440 P02533:p.Met119Thr SP substitution exon 1 VAR_010441 P02533:p.Gln120Arg SP substitution exon 1 VAR_010442 P02533:p.Leu122Phe SP substitution exon 1 VAR_010443 P02533:p.Asn123Ser SP substitution exon 1 VAR_010444 P02533:p.Arg125Ser SP substitution exon 1 VAR_010445 P02533:p.Tyr129Asp SP substitution exon 1 VAR_010446 P02533:p.Leu143Pro SP substitution exon 1 VAR_010447 P02533:p.Ala247Asp SP substitution exon 1 VAR_010448 P02533:p.Asp273Gly SP substitution exon 1 VAR_010449 P02533:p.Ala274Asp SP substitution exon 1 VAR_010450 P02533:p.Ile377Asn SP substitution exon 1 VAR_010451 P02533:p.Arg388Cys SP substitution exon 1 VAR_010452 P02533:p.Glu422Lys SP substitution exon 1 VAR_010453 P13647:p.Pro25Leu SP substitution exon 1 VAR_010454 P13647:p.Pro152Leu SP substitution exon 1 VAR_010455 P13647:p.Lys173Asn SP substitution exon 1 VAR_010456 P13647:p.Leu175Phe SP substitution exon 1 VAR_010457 P13647:p.Asn176Ser SP substitution exon 1 VAR_010458 P13647:p.Phe179Ser SP substitution exon 1 VAR_010459 P13647:p.Ser181Pro SP substitution exon 1 VAR_010460 P13647:p.Val323Ala SP substitution exon 1 VAR_010461 P13647:p.Leu325Pro SP substitution exon 1 VAR_010462 P13647:p.Met327Lys SP substitution exon 1 VAR_010463 P13647:p.Asp328His SP substitution exon 1 VAR_010464 P13647:p.Asp328Val SP substitution exon 1 VAR_010465 P13647:p.Asn329Lys SP substitution exon 1 VAR_010466 P13647:p.Ile467Thr SP substitution exon 1 VAR_010467 P13647:p.Glu477Lys SP substitution exon 1 VAR_010468 O76090:p.Ala10Val SP substitution exon 1 VAR_010469 O76090:p.Arg13His SP substitution exon 1 VAR_010470 O76090:p.Ser16Phe SP substitution exon 1 VAR_010471 O76090:p.Phe17Cys SP substitution exon 1 VAR_010472 O76090:p.Ile73Asn SP substitution exon 1 VAR_010473 O76090:p.Leu82Val SP substitution exon 1 VAR_010474 O76090:p.Arg92Cys SP substitution exon 1 VAR_010475 O76090:p.Arg92His SP substitution exon 1 VAR_010476 O76090:p.Gln96His SP substitution exon 1 VAR_010477 O76090:p.Glu119Gln SP substitution exon 1 VAR_010478 O76090:p.Gly135Ser SP substitution exon 1 VAR_010479 O76090:p.Ala146Lys SP substitution exon 1 VAR_010480 O76090:p.Thr216Ile SP substitution exon 1 VAR_010481 O76090:p.Arg218His SP substitution exon 1 VAR_010482 O76090:p.Val235Leu SP substitution exon 1 VAR_010483 O76090:p.Gln293Lys SP substitution exon 1 VAR_010484 O76090:p.Asn296Ser SP substitution exon 1 VAR_010485 O76090:p.Pro297Ser SP substitution exon 1 VAR_010486 O76090:p.Glu300Asp SP substitution exon 1 VAR_010487 O76090:p.Thr307Ile SP substitution exon 1 VAR_010492 P52333:p.Pro151Arg SP substitution exon 1 VAR_010493 P52333:p.Glu481Gly SP substitution exon 1 VAR_010494 P52333:p.Arg582Trp SP substitution exon 1 VAR_010496 P52333:p.Val722Ile SP substitution exon 1 VAR_010497 P52333:p.Cys759Arg SP substitution exon 1 VAR_010498 P52333:p.Leu910Ser SP substitution exon 1 VAR_010499 P35527:p.Met157Thr SP substitution exon 1 VAR_010500 P35527:p.Met157Val SP substitution exon 1 VAR_010501 P35527:p.Leu160Val SP substitution exon 1 VAR_010502 P35527:p.Asn161Ser SP substitution exon 1 VAR_010503 P35527:p.Asn161Tyr SP substitution exon 1 VAR_010504 P35527:p.Gln172Pro SP substitution exon 1 VAR_010505 P13645:p.Gly126Ser SP substitution exon 1 VAR_010506 P13645:p.Met150Arg SP substitution exon 1 VAR_010507 P13645:p.Met150Thr SP substitution exon 1 VAR_010508 P13645:p.Tyr160Asn SP substitution exon 1 VAR_010509 P13645:p.Tyr160Ser SP substitution exon 1 VAR_010510 P13645:p.Lys439Glu SP substitution exon 1 VAR_010511 P13645:p.Ile446Thr SP substitution exon 1 VAR_010512 Q04695:p.Met88Thr SP substitution exon 1 VAR_010513 Q04695:p.Arg94Cys SP substitution exon 1 VAR_010514 P35908:p.Ile182Asn SP substitution exon 1 VAR_010515 P35908:p.Asn186Asp SP substitution exon 1 VAR_010516 P35908:p.Leu484Pro SP substitution exon 1 VAR_010517 P26439:p.Ala10Glu SP substitution exon 1 VAR_010518 P26439:p.Ala10Val SP substitution exon 1 VAR_010519 P26439:p.Gly15Asp SP substitution exon 1 VAR_010520 P26439:p.Ala82Thr SP substitution exon 1 VAR_010521 P26439:p.Asn100Ser SP substitution exon 1 VAR_010522 P26439:p.Leu108Trp SP substitution exon 1 VAR_010523 P26439:p.Gly129Arg SP substitution exon 1 VAR_010524 P26439:p.Pro155Leu SP substitution exon 1 VAR_010525 P26439:p.Ala167Val SP substitution exon 1 VAR_010526 P26439:p.Leu173Arg SP substitution exon 1 VAR_010527 P26439:p.Pro186Leu SP substitution exon 1 VAR_010528 P26439:p.Ser213Gly SP substitution exon 1 VAR_010529 P26439:p.Lys216Glu SP substitution exon 1 VAR_010530 P26439:p.Pro222His SP substitution exon 1 VAR_010531 P26439:p.Pro222Gln SP substitution exon 1 VAR_010533 P26439:p.Leu236Ser SP substitution exon 1 VAR_010534 P26439:p.Thr259Met SP substitution exon 1 VAR_010535 P26439:p.Gly294Val SP substitution exon 1 VAR_010536 O43602:p.Arg170Gly SP substitution exon 1 VAR_010537 P20823:p.Leu12His SP substitution exon 1 VAR_010538 P20823:p.Gly31Asp SP substitution exon 1 VAR_010539 P20823:p.Glu48Lys SP substitution exon 1 VAR_010540 P20823:p.Ala98Val SP substitution exon 1 VAR_010541 P20823:p.Leu107Arg SP substitution exon 1 VAR_010542 P20823:p.Lys117Glu SP substitution exon 1 VAR_010543 P20823:p.Ile128Asn SP substitution exon 1 VAR_010544 P20823:p.Pro129Thr SP substitution exon 1 VAR_010545 P20823:p.Arg131Gln SP substitution exon 1 VAR_010546 P20823:p.Arg131Trp SP substitution exon 1 VAR_010547 P20823:p.Val133Met SP substitution exon 1 VAR_010548 P20823:p.His143Tyr SP substitution exon 1 VAR_010549 P20823:p.Lys158Asn SP substitution exon 1 VAR_010550 P20823:p.Arg159Trp SP substitution exon 1 VAR_010551 P20823:p.Ala161Thr SP substitution exon 1 VAR_010552 P20823:p.Gly191Asp SP substitution exon 1 VAR_010554 P20823:p.Arg203Cys SP substitution exon 1 VAR_010555 P20823:p.Lys205Gln SP substitution exon 1 VAR_010556 P20823:p.Arg229Gln SP substitution exon 1 VAR_010557 P20823:p.Cys241Gly SP substitution exon 1 VAR_010558 P20823:p.Leu254Met SP substitution exon 1 VAR_010559 P20823:p.Val259Asp SP substitution exon 1 VAR_010560 P20823:p.Thr260Met SP substitution exon 1 VAR_010561 P20823:p.Arg263Cys SP substitution exon 1 VAR_010562 P20823:p.Arg271Trp SP substitution exon 1 VAR_010563 P20823:p.Arg272Cys SP substitution exon 1 VAR_010564 P20823:p.Gly319Ser SP substitution exon 1 VAR_010565 P20823:p.Gly415Arg SP substitution exon 1 VAR_010574 P28069:p.Phe135Cys SP substitution exon 1 VAR_010575 P28069:p.Glu174Gly SP substitution exon 1 VAR_010576 P28069:p.Pro239Ser SP substitution exon 1 VAR_010577 P52789:p.Leu148Phe SP substitution exon 1 VAR_010578 P52789:p.Ala314Val SP substitution exon 1 VAR_010579 P52789:p.Arg353Cys SP substitution exon 1 VAR_010580 P52789:p.Arg497Gln SP substitution exon 1 VAR_010581 P52789:p.Arg775Gln SP substitution exon 1 VAR_010582 P52789:p.Arg844Lys SP substitution exon 1 VAR_010583 P35557:p.Ala11Thr SP substitution exon 1 VAR_010584 P35557:p.Arg36Trp SP substitution exon 1 VAR_010585 P35557:p.Ala53Ser SP substitution exon 1 VAR_010586 P35557:p.Tyr108His SP substitution exon 1 VAR_010587 P35557:p.His137Arg SP substitution exon 1 VAR_010588 P35557:p.Phe150Ser SP substitution exon 1 VAR_010589 P35557:p.Thr168Pro SP substitution exon 1 VAR_010590 P35557:p.Thr209Met SP substitution exon 1 VAR_010591 P35557:p.Met210Thr SP substitution exon 1 VAR_010592 P35557:p.Cys213Arg SP substitution exon 1 VAR_010593 P35557:p.Ala259Thr SP substitution exon 1 VAR_010594 P35557:p.Gly261Glu SP substitution exon 1 VAR_010595 P35557:p.Ser336Leu SP substitution exon 1 VAR_010596 P35557:p.Val367Met SP substitution exon 1 VAR_010597 P35557:p.Cys382Tyr SP substitution exon 1 VAR_010598 P35557:p.Ala384Thr SP substitution exon 1 VAR_010599 P35557:p.Arg392Cys SP substitution exon 1 VAR_010600 P41235:p.Val264Met SP substitution exon 1 VAR_010601 P41235:p.Glu285Gln SP substitution exon 1 VAR_010602 O76024:p.Ala559Thr SP substitution exon 1 VAR_010603 O76024:p.Gly576Ser SP substitution exon 1 VAR_010605 P00480:p.Ala140Pro SP substitution exon 1 VAR_010606 P00480:p.Asn198Lys SP substitution exon 1 VAR_010607 P00480:p.His214Tyr SP substitution exon 1 VAR_010608 P00480:p.Thr262Lys SP substitution exon 1 VAR_010609 P00480:p.Trp265Leu SP substitution exon 1 VAR_010610 P00480:p.Glu326Lys SP substitution exon 1 VAR_010611 Q92838:p.His54Tyr SP substitution exon 1 VAR_010612 Q92838:p.Leu55Arg SP substitution exon 1 VAR_010613 Q92838:p.Gly291Arg SP substitution exon 1 VAR_010614 Q92838:p.Gly291Trp SP substitution exon 1 VAR_010615 Q92838:p.Asp298His SP substitution exon 1 VAR_010616 P78562:p.Phe80Ser SP substitution exon 1 VAR_010617 P78562:p.Cys85Phe SP substitution exon 1 VAR_010618 P78562:p.Cys85Arg SP substitution exon 1 VAR_010619 P78562:p.Ser141Pro SP substitution exon 1 VAR_010620 P78562:p.Cys142Phe SP substitution exon 1 VAR_010621 P78562:p.Leu160Arg SP substitution exon 1 VAR_010622 P78562:p.Asp237Gly SP substitution exon 1 VAR_010623 P78562:p.Tyr317Phe SP substitution exon 1 VAR_010626 P78562:p.Trp530Cys SP substitution exon 1 VAR_010627 P78562:p.Leu555Pro SP substitution exon 1 VAR_010628 P78562:p.Arg567Pro SP substitution exon 1 VAR_010629 P78562:p.Ala573Asp SP substitution exon 1 VAR_010630 P78562:p.Gln621Arg SP substitution exon 1 VAR_010631 P78562:p.Arg651Pro SP substitution exon 1 VAR_010640 P55157:p.His297Gln SP substitution exon 1 VAR_010641 P55157:p.Asp384Ala SP substitution exon 1 VAR_010642 P55157:p.Arg540His SP substitution exon 1 VAR_010643 P55157:p.Ser590Ile SP substitution exon 1 VAR_010644 P55157:p.Gly746Glu SP substitution exon 1 VAR_010645 Q9Y4I1:p.Arg1246Cys SP substitution exon 1 VAR_010646 Q9NQX4:p.Leu522Pro SP substitution exon 1 VAR_010647 Q9NQX4:p.Leu634Ser SP substitution exon 1 VAR_010648 P43080:p.Pro50Leu SP substitution exon 1 VAR_010649 P05106:p.Leu143Trp SP substitution exon 1 VAR_010651 P05106:p.Ser188Leu SP substitution exon 1 VAR_010652 P16144:p.Cys38Arg SP substitution exon 1 VAR_010654 P51159:p.Trp73Gly SP substitution exon 1 VAR_010657 P02768:p.Phe73Tyr SP substitution exon 1 VAR_010658 P02766:p.Val48Met SP substitution exon 1 VAR_010659 P02766:p.Glu109Lys SP substitution exon 1 VAR_010660 Q9UHK6:p.Val9Met SP substitution exon 1 VAR_010661 Q9UHK6:p.Ser52Pro SP substitution exon 1 VAR_010662 Q9UHK6:p.Gly175Asp SP substitution exon 1 VAR_010663 Q9UHK6:p.Leu201Ser SP substitution exon 1 VAR_010664 Q9UHK6:p.Glu277Lys SP substitution exon 1 VAR_010665 Q9UHK6:p.Leu107Pro SP substitution exon 1 VAR_010666 P11387:p.Met370Thr SP substitution exon 1 VAR_010667 P11387:p.Asn722Ser SP substitution exon 1 VAR_010668 P51677:p.Cys218Ser SP substitution exon 1 VAR_010669 P51679:p.Leu130Val SP substitution exon 1 VAR_010670 P51679:p.Cys178Ser SP substitution exon 1 VAR_010671 P05106:p.Cys568Arg SP substitution exon 1 VAR_010672 P05106:p.Gly605Ser SP substitution exon 1 VAR_010677 O60931:p.Ile133Phe SP substitution exon 1 VAR_010678 O60931:p.Ser139Phe SP substitution exon 1 VAR_010680 O60931:p.Leu158Pro SP substitution exon 1 VAR_010681 O60931:p.Trp182Arg SP substitution exon 1 VAR_010682 O60931:p.Gly197Arg SP substitution exon 1 VAR_010683 O60931:p.Asp205Asn SP substitution exon 1 VAR_010699 P01189:p.Ser7Thr SP substitution exon 1 VAR_010700 P01189:p.Ser9Leu SP substitution exon 1 VAR_010701 P01189:p.Arg236Gly SP substitution exon 1 VAR_010702 Q01718:p.Asp103Asn SP substitution exon 1 VAR_010703 Q01718:p.Arg137Trp SP substitution exon 1 VAR_010704 P32245:p.Ser30Arg SP substitution exon 1 VAR_010705 P32245:p.Asp37Val SP substitution exon 1 VAR_010706 P32245:p.Pro78Leu SP substitution exon 1 VAR_010707 P32245:p.Val103Ile SP substitution exon 1 VAR_010708 P32245:p.Thr112Met SP substitution exon 1 VAR_010709 P32245:p.Arg165Trp SP substitution exon 1 VAR_010710 P32245:p.Ile251Leu SP substitution exon 1 VAR_010711 P32245:p.Gly252Ser SP substitution exon 1 VAR_010712 P32245:p.Ile317Thr SP substitution exon 1 VAR_010713 Q9UBR4:p.Tyr111Cys SP substitution exon 1 VAR_010715 P01189:p.Asp106Asn SP substitution exon 1 VAR_010716 P01189:p.Glu214Gly SP substitution exon 1 VAR_010717 Q9GZV9:p.Arg176Gln SP substitution exon 1 VAR_010718 Q9GZV9:p.Arg179Trp SP substitution exon 1 VAR_010719 Q9GZV9:p.Arg179Gln SP substitution exon 1 VAR_010720 Q9GZV9:p.Thr239Met SP substitution exon 1 VAR_010721 Q9NR20:p.Val95Ile SP substitution exon 1 VAR_010722 Q9NR20:p.Asn189Ser SP substitution exon 1 VAR_010723 P37231:p.Pro12Ala SP substitution exon 1 VAR_010724 P37231:p.Pro113Gln SP substitution exon 1 VAR_010725 P37231:p.Gln314Pro SP substitution exon 1 VAR_010726 P37231:p.Arg316His SP substitution exon 1 VAR_010727 P37231:p.Val318Met SP substitution exon 1 VAR_010728 P37231:p.Pro495Leu SP substitution exon 1 VAR_010729 Q9UBC0:p.Pro75Ala SP substitution exon 1 VAR_010730 P02671:p.Val39Asp SP substitution exon 1 VAR_010731 P02671:p.Glu545Val SP substitution exon 1 VAR_010732 P02671:p.Arg573Leu SP substitution exon 1 VAR_010733 P07320:p.Arg15Cys SP substitution exon 1 VAR_010734 P07320:p.Arg37Ser SP substitution exon 1 VAR_010735 P07320:p.Arg59His SP substitution exon 1 VAR_010738 O95500:p.Val85Asp SP substitution exon 1 VAR_010739 P35556:p.Asp1115His SP substitution exon 1 VAR_010740 P35556:p.Cys1142Phe SP substitution exon 1 VAR_010741 P35556:p.Cys1253Trp SP substitution exon 1 VAR_010742 P56539:p.Val57Met SP substitution exon 1 VAR_010743 P56539:p.Cys72Trp SP substitution exon 1 VAR_010744 P14222:p.Val183Gly SP substitution exon 1 VAR_010745 P14222:p.Arg225Trp SP substitution exon 1 VAR_010746 P14222:p.Asn252Ser SP substitution exon 1 VAR_010747 P14222:p.Cys279Tyr SP substitution exon 1 VAR_010748 P14222:p.Pro345Leu SP substitution exon 1 VAR_010749 P14222:p.Gly429Glu SP substitution exon 1 VAR_010750 P00387:p.Leu73Pro SP substitution exon 1 VAR_010751 P00387:p.Thr117Ser SP substitution exon 1 VAR_010752 P00387:p.Ala179Val SP substitution exon 1 VAR_010753 P00387:p.Cys204Arg SP substitution exon 1 VAR_010754 P00387:p.Cys204Tyr SP substitution exon 1 VAR_010756 Q92887:p.Gln1382Arg SP substitution exon 1 VAR_010757 Q9H2C0:p.Glu486Lys SP substitution exon 1 VAR_010759 Q9H2C0:p.Arg15Ser SP substitution exon 1 VAR_010760 Q9H2C0:p.Ser52Gly SP substitution exon 1 VAR_010761 Q9H2C0:p.Ser79Leu SP substitution exon 1 VAR_010762 Q9H2C0:p.Val82Phe SP substitution exon 1 VAR_010763 Q9H2C0:p.Arg138His SP substitution exon 1 VAR_010764 Q9H2C0:p.Arg269Gln SP substitution exon 1 VAR_010765 Q9H2C0:p.Leu309Arg SP substitution exon 1 VAR_010766 Q9H2C0:p.Arg545Cys SP substitution exon 1 VAR_010767 Q9H2C0:p.Cys570Tyr SP substitution exon 1 VAR_010768 Q01974:p.Arg184Cys SP substitution exon 1 VAR_010769 Q01974:p.Arg189Trp SP substitution exon 1 VAR_010770 Q01974:p.Arg366Trp SP substitution exon 1 VAR_010771 Q01974:p.Asn620Lys SP substitution exon 1 VAR_010772 P14222:p.Val50Met SP substitution exon 1 VAR_010773 P14222:p.Arg123His SP substitution exon 1 VAR_010774 P14222:p.Ile224Asn SP substitution exon 1 VAR_010781 P57727:p.Val53Ile SP substitution exon 1 VAR_010783 Q9H161:p.Arg35Thr SP substitution exon 1 VAR_010784 Q9H161:p.Pro102Ser SP substitution exon 1 VAR_010785 Q9H161:p.Arg218Gln SP substitution exon 1 VAR_010786 P35548:p.Leu154Pro SP substitution exon 1 VAR_010787 Q16790:p.Val33Met SP substitution exon 1 VAR_010788 O14656:p.Asp264His SP substitution exon 1 VAR_010790 Q9UHC1:p.His494Arg SP substitution exon 1 VAR_010791 P35579:p.Asn93Lys SP substitution exon 1 VAR_010792 P35579:p.Arg702Cys SP substitution exon 1 VAR_010793 P35579:p.Arg705His SP substitution exon 1 VAR_010794 P35579:p.Thr1155Ile SP substitution exon 1 VAR_010795 P35579:p.Arg1165Cys SP substitution exon 1 VAR_010796 P35579:p.Asp1424His SP substitution exon 1 VAR_010797 P35579:p.Glu1841Lys SP substitution exon 1 VAR_010798 Q13315:p.Ser49Cys SP substitution exon 1 VAR_010799 Q13315:p.Asp126Glu SP substitution exon 1 VAR_010800 Q13315:p.Val182Leu SP substitution exon 1 VAR_010801 Q13315:p.Lys224Glu SP substitution exon 1 VAR_010802 Q13315:p.Pro292Leu SP substitution exon 1 VAR_010803 Q13315:p.Ile323Val SP substitution exon 1 VAR_010804 Q13315:p.Tyr332Cys SP substitution exon 1 VAR_010805 Q13315:p.Ala350Thr SP substitution exon 1 VAR_010806 Q13315:p.Ile352Thr SP substitution exon 1 VAR_010807 Q13315:p.Gly514Asp SP substitution exon 1 VAR_010808 Q13315:p.Phe570Ser SP substitution exon 1 VAR_010810 Q13315:p.Ser707Pro SP substitution exon 1 VAR_010812 Q13315:p.Asn768Asp SP substitution exon 1 VAR_010813 Q13315:p.Arg785Cys SP substitution exon 1 VAR_010814 Q13315:p.Phe858Leu SP substitution exon 1 VAR_010815 Q13315:p.Leu950Arg SP substitution exon 1 VAR_010816 Q13315:p.Leu1001Gln SP substitution exon 1 VAR_010817 Q13315:p.Met1040Val SP substitution exon 1 VAR_010818 Q13315:p.Pro1054Arg SP substitution exon 1 VAR_010819 Q13315:p.His1082Leu SP substitution exon 1 VAR_010820 Q13315:p.Glu1091Asp SP substitution exon 1 VAR_010821 Q13315:p.Ile1407Thr SP substitution exon 1 VAR_010822 Q13315:p.Leu1420Phe SP substitution exon 1 VAR_010823 Q13315:p.Leu1420Pro SP substitution exon 1 VAR_010824 Q13315:p.Lys1454Asn SP substitution exon 1 VAR_010825 Q13315:p.Phe1463Ser SP substitution exon 1 VAR_010826 Q13315:p.Leu1465Pro SP substitution exon 1 VAR_010827 Q13315:p.Pro1566Arg SP substitution exon 1 VAR_010828 Q13315:p.Val1570Ala SP substitution exon 1 VAR_010829 Q13315:p.Asp1682His SP substitution exon 1 VAR_010830 Q13315:p.Ser1691Arg SP substitution exon 1 VAR_010896 Q13867:p.Ile443Val SP substitution exon 1 VAR_010897 Q9H161:p.Arg272Pro SP substitution exon 1 VAR_010898 P35548:p.Met129Thr SP substitution exon 1 VAR_010899 Q06609:p.Arg150Gln SP substitution exon 1 VAR_010901 P35625:p.Gly190Cys SP substitution exon 1 VAR_010902 Q16281:p.Thr153Met SP substitution exon 1 VAR_010903 Q16281:p.Pro163Leu SP substitution exon 1 VAR_010904 Q16281:p.Arg283Gln SP substitution exon 1 VAR_010905 Q16281:p.Arg283Trp SP substitution exon 1 VAR_010906 Q16281:p.Thr291Arg SP substitution exon 1 VAR_010907 Q16281:p.Val529Met SP substitution exon 1 VAR_010908 Q16281:p.Phe547Leu SP substitution exon 1 VAR_010909 Q16281:p.Gly557Arg SP substitution exon 1 VAR_010910 Q16281:p.Arg410Trp SP substitution exon 1 VAR_010911 Q01974:p.Cys182Tyr SP substitution exon 1 VAR_010912 Q01974:p.Thr245Ala SP substitution exon 1 VAR_010913 Q01974:p.Val819Ile SP substitution exon 1 VAR_010914 P46100:p.Arg246Leu SP substitution exon 1 VAR_010915 Q16647:p.Pro38Leu SP substitution exon 1 VAR_010916 Q16647:p.Ser118Arg SP substitution exon 1 VAR_010919 P24557:p.Asp160Glu SP substitution exon 1 VAR_010920 P24557:p.Asn245Ser SP substitution exon 1 VAR_010921 P24557:p.Leu356Val SP substitution exon 1 VAR_010922 P24557:p.Gln416Glu SP substitution exon 1 VAR_010923 P24557:p.Glu449Lys SP substitution exon 1 VAR_010924 P24557:p.Thr450Asn SP substitution exon 1 VAR_010925 P24557:p.Arg465Gln SP substitution exon 1 VAR_010927 Q9HBU1:p.Ala48Thr SP substitution exon 1 VAR_010928 Q99895:p.Arg80Trp SP substitution exon 1 VAR_010929 O43526:p.Arg214Trp SP substitution exon 1 VAR_010930 O43526:p.Tyr284Cys SP substitution exon 1 VAR_010931 O43526:p.Ala306Thr SP substitution exon 1 VAR_010932 O43526:p.Asn780Thr SP substitution exon 1 VAR_010933 P51787:p.Arg243Cys SP substitution exon 1 VAR_010935 O43525:p.Trp309Arg SP substitution exon 1 VAR_010936 P56696:p.Leu274His SP substitution exon 1 VAR_010937 P56696:p.Leu281Ser SP substitution exon 1 VAR_010938 Q12879:p.Lys270Glu SP substitution exon 1 VAR_010939 Q9H583:p.Asn1694Ser SP substitution exon 1 VAR_010940 Q9H583:p.Val1854Ala SP substitution exon 1 VAR_010941 Q9H583:p.Asn1967Asp SP substitution exon 1 VAR_010942 Q9H583:p.Glu2017Gly SP substitution exon 1 VAR_010943 Q9GZK3:p.Gln234Arg SP substitution exon 1 VAR_010956 Q03426:p.His20Asn SP substitution exon 1 VAR_010957 Q03426:p.Leu39Pro SP substitution exon 1 VAR_010958 Q03426:p.Ser52Asn SP substitution exon 1 VAR_010959 Q03426:p.Ser135Leu SP substitution exon 1 VAR_010960 Q03426:p.Ala148Thr SP substitution exon 1 VAR_010961 Q03426:p.Ser150Leu SP substitution exon 1 VAR_010962 Q03426:p.Gly202Arg SP substitution exon 1 VAR_010969 P21549:p.Gly41Val SP substitution exon 1 VAR_010971 P21549:p.Gly116Arg SP substitution exon 1 VAR_010972 P21549:p.Gly156Arg SP substitution exon 1 VAR_010973 P21549:p.Asp183Asn SP substitution exon 1 VAR_010974 Q13635:p.Gly509Arg SP substitution exon 1 VAR_010975 Q13635:p.Gly509Val SP substitution exon 1 VAR_010976 Q13635:p.Asp513Tyr SP substitution exon 1 VAR_010978 Q13635:p.Val829Met SP substitution exon 1 VAR_010979 Q13635:p.Gly1069Arg SP substitution exon 1 VAR_010980 Q13635:p.Ser1132Pro SP substitution exon 1 VAR_010981 Q13635:p.Ser1132Tyr SP substitution exon 1 VAR_010982 Q13635:p.Glu1242Lys SP substitution exon 1 VAR_010985 P06132:p.Arg142Gln SP substitution exon 1 VAR_010986 P06132:p.Leu161Gln SP substitution exon 1 VAR_010987 P06132:p.Ser219Phe SP substitution exon 1 VAR_010988 P06132:p.Pro235Ser SP substitution exon 1 VAR_010989 P21359:p.Ile117Ser SP substitution exon 1 VAR_010990 P21359:p.Asp338Gly SP substitution exon 1 VAR_010991 P21359:p.Leu508Pro SP substitution exon 1 VAR_010992 P21359:p.Leu844Phe SP substitution exon 1 VAR_010993 P21359:p.Gly1166Asp SP substitution exon 1 VAR_010994 P21359:p.Arg1204Trp SP substitution exon 1 VAR_010995 P21359:p.Arg1276Pro SP substitution exon 1 VAR_010996 P21359:p.Arg1412Ser SP substitution exon 1 VAR_010997 P21359:p.Lys1440Gln SP substitution exon 1 VAR_010998 P21359:p.Ser1489Gly SP substitution exon 1 VAR_010999 Q9UM01:p.Gly338Asp SP substitution exon 1 VAR_011000 Q9UM01:p.Ser386Arg SP substitution exon 1 VAR_011001 P08397:p.Gly24Ser SP substitution exon 1 VAR_011002 P08397:p.Arg26Cys SP substitution exon 1 VAR_011003 P08397:p.Ser28Asn SP substitution exon 1 VAR_011004 P08397:p.Ala31Pro SP substitution exon 1 VAR_011005 P08397:p.Gln34Pro SP substitution exon 1 VAR_011006 P08397:p.Thr35Met SP substitution exon 1 VAR_011007 P08397:p.Leu42Ser SP substitution exon 1 VAR_011008 P08397:p.Asp61Asn SP substitution exon 1 VAR_011009 P08397:p.Leu85Arg SP substitution exon 1 VAR_011010 P08397:p.Val90Gly SP substitution exon 1 VAR_011011 P08397:p.Val124Asp SP substitution exon 1 VAR_011012 P08397:p.Asp178Asn SP substitution exon 1 VAR_011013 P08397:p.Val202Leu SP substitution exon 1 VAR_011014 P08397:p.Glu209Lys SP substitution exon 1 VAR_011015 P08397:p.Gly216Asp SP substitution exon 1 VAR_011016 P08397:p.Gln217His SP substitution exon 1 VAR_011017 P08397:p.Gln217Leu SP substitution exon 1 VAR_011018 P08397:p.Ala219Asp SP substitution exon 1 VAR_011020 P08397:p.Glu250Gln SP substitution exon 1 VAR_011021 P08397:p.Glu250Val SP substitution exon 1 VAR_011022 P08397:p.His256Tyr SP substitution exon 1 VAR_011023 P08397:p.Val267Met SP substitution exon 1 VAR_011024 P08397:p.Ala270Asp SP substitution exon 1 VAR_011025 P08397:p.Ala270Gly SP substitution exon 1 VAR_011030 P98161:p.Leu13Gln SP substitution exon 1 VAR_011031 P98161:p.Ser75Phe SP substitution exon 1 VAR_011032 P98161:p.Trp139Cys SP substitution exon 1 VAR_011033 P98161:p.Gly1166Ser SP substitution exon 1 VAR_011034 P98161:p.Val1956Glu SP substitution exon 1 VAR_011036 P98161:p.Arg1995His SP substitution exon 1 VAR_011038 P98161:p.Thr2250Met SP substitution exon 1 VAR_011039 P98161:p.Arg2329Trp SP substitution exon 1 VAR_011040 P98161:p.Tyr2336Asp SP substitution exon 1 VAR_011041 P98161:p.Tyr2379Cys SP substitution exon 1 VAR_011042 P98161:p.Arg2408Cys SP substitution exon 1 VAR_011044 P98161:p.Asp2604Asn SP substitution exon 1 VAR_011045 P98161:p.Pro2674Ser SP substitution exon 1 VAR_011046 P98161:p.Thr2708Met SP substitution exon 1 VAR_011047 P98161:p.Pro2734Thr SP substitution exon 1 VAR_011048 P98161:p.Gln2735Leu SP substitution exon 1 VAR_011049 P98161:p.Ala2752Asp SP substitution exon 1 VAR_011051 P98161:p.Arg2765Cys SP substitution exon 1 VAR_011052 P98161:p.Val2768Met SP substitution exon 1 VAR_011053 P98161:p.Glu2771Lys SP substitution exon 1 VAR_011054 P98161:p.Val2782Met SP substitution exon 1 VAR_011055 P98161:p.Gly2814Arg SP substitution exon 1 VAR_011056 P98161:p.Leu2816Pro SP substitution exon 1 VAR_011057 P98161:p.Gly2858Ser SP substitution exon 1 VAR_011058 P98161:p.Arg2888Gly SP substitution exon 1 VAR_011059 P98161:p.Val2905Ile SP substitution exon 1 VAR_011060 P98161:p.His2921Pro SP substitution exon 1 VAR_011061 P98161:p.Glu2966Asp SP substitution exon 1 VAR_011063 P98161:p.Phe3066Leu SP substitution exon 1 VAR_011064 P98161:p.Gly3139Val SP substitution exon 1 VAR_011065 P98161:p.Pro3193Leu SP substitution exon 1 VAR_011066 P98161:p.Ala3512Val SP substitution exon 1 VAR_011067 P98161:p.Arg3719Gln SP substitution exon 1 VAR_011068 P98161:p.Arg3753Trp SP substitution exon 1 VAR_011069 P98161:p.Asp3815Asn SP substitution exon 1 VAR_011070 P98161:p.Leu3852Pro SP substitution exon 1 VAR_011072 Q13563:p.Arg28Pro SP substitution exon 1 VAR_011073 Q13563:p.Ala356Pro SP substitution exon 1 VAR_011077 Q92838:p.Gly255Cys SP substitution exon 1 VAR_011078 Q92838:p.Gly255Asp SP substitution exon 1 VAR_011079 Q92838:p.Trp274Gly SP substitution exon 1 VAR_011080 Q92838:p.Cys332Tyr SP substitution exon 1 VAR_011081 P05186:p.Ala40Val SP substitution exon 1 VAR_011082 P05186:p.Thr134Asn SP substitution exon 1 VAR_011083 P05186:p.Ala176Thr SP substitution exon 1 VAR_011084 P05186:p.Lys224Glu SP substitution exon 1 VAR_011085 P05186:p.Arg246Ser SP substitution exon 1 VAR_011086 P05186:p.Ala348Thr SP substitution exon 1 VAR_011087 P05186:p.His381Arg SP substitution exon 1 VAR_011088 P05186:p.Asp406Gly SP substitution exon 1 VAR_011089 P05186:p.Gly426Cys SP substitution exon 1 VAR_011090 P05186:p.Arg450His SP substitution exon 1 VAR_011091 P05186:p.Gly456Arg SP substitution exon 1 VAR_011092 P05186:p.Asn478Ile SP substitution exon 1 VAR_011093 P05186:p.Cys489Ser SP substitution exon 1 VAR_011094 P05186:p.Val522Ala SP substitution exon 1 VAR_011095 P02461:p.Gly183Asp SP substitution exon 1 VAR_011096 P02461:p.Gly183Ser SP substitution exon 1 VAR_011097 P02461:p.Gly192Val SP substitution exon 1 VAR_011098 P02461:p.Gly204Asp SP substitution exon 1 VAR_011099 P02461:p.Gly204Ser SP substitution exon 1 VAR_011100 P02461:p.Gly210Asp SP substitution exon 1 VAR_011101 P02461:p.Gly219Cys SP substitution exon 1 VAR_011102 P02461:p.Gly225Val SP substitution exon 1 VAR_011103 P02461:p.Gly240Arg SP substitution exon 1 VAR_011104 P02461:p.Gly243Val SP substitution exon 1 VAR_011105 P02461:p.Gly249Asp SP substitution exon 1 VAR_011106 P02461:p.Gly249Val SP substitution exon 1 VAR_011107 P02461:p.Gly252Asp SP substitution exon 1 VAR_011108 P02461:p.Gly252Arg SP substitution exon 1 VAR_011109 P02461:p.Gly252Val SP substitution exon 1 VAR_011110 P02461:p.Gly255Val SP substitution exon 1 VAR_011111 P02461:p.Gly264Arg SP substitution exon 1 VAR_011112 P02461:p.Gly267Val SP substitution exon 1 VAR_011113 P02461:p.Gly321Val SP substitution exon 1 VAR_011114 P02461:p.Gly327Asp SP substitution exon 1 VAR_011115 P02461:p.Gly345Arg SP substitution exon 1 VAR_011116 P02461:p.Gly417Arg SP substitution exon 1 VAR_011117 P02461:p.Gly444Arg SP substitution exon 1 VAR_011118 P02461:p.Gly489Glu SP substitution exon 1 VAR_011119 P02461:p.Gly501Arg SP substitution exon 1 VAR_011120 P02461:p.Gly519Val SP substitution exon 1 VAR_011121 P02461:p.Gly549Glu SP substitution exon 1 VAR_011122 P02461:p.Gly552Glu SP substitution exon 1 VAR_011123 P02461:p.Gly588Asp SP substitution exon 1 VAR_011124 P02461:p.Gly636Arg SP substitution exon 1 VAR_011125 P02461:p.Gly657Glu SP substitution exon 1 VAR_011126 P02461:p.Gly660Asp SP substitution exon 1 VAR_011127 P02461:p.Pro668Thr SP substitution exon 1 VAR_011128 P02461:p.Gly699Arg SP substitution exon 1 VAR_011129 P02461:p.Gly738Ser SP substitution exon 1 VAR_011130 P02461:p.Gly738Val SP substitution exon 1 VAR_011131 P02461:p.Gly744Val SP substitution exon 1 VAR_011132 P02461:p.Gly828Trp SP substitution exon 1 VAR_011133 P02461:p.Gly852Cys SP substitution exon 1 VAR_011134 P02461:p.Gly879Val SP substitution exon 1 VAR_011135 P02461:p.Gly882Asp SP substitution exon 1 VAR_011136 P02461:p.Gly900Asp SP substitution exon 1 VAR_011137 P02461:p.Gly903Glu SP substitution exon 1 VAR_011138 P02461:p.Gly909Val SP substitution exon 1 VAR_011139 P02461:p.Gly918Glu SP substitution exon 1 VAR_011140 P02461:p.Gly924Cys SP substitution exon 1 VAR_011141 P02461:p.Gly942Glu SP substitution exon 1 VAR_011142 P02461:p.Gly966Val SP substitution exon 1 VAR_011143 P02461:p.Gly972Ala SP substitution exon 1 VAR_011144 P02461:p.Gly984Thr SP substitution exon 1 VAR_011145 P02461:p.Gly999Arg SP substitution exon 1 VAR_011146 P02461:p.Gly1011Glu SP substitution exon 1 VAR_011147 P02461:p.Gly1032Val SP substitution exon 1 VAR_011148 P02461:p.Gly1035Cys SP substitution exon 1 VAR_011149 P02461:p.Gly1044Asp SP substitution exon 1 VAR_011150 P02461:p.Gly1050Val SP substitution exon 1 VAR_011151 P02461:p.Gly1089Asp SP substitution exon 1 VAR_011152 P02461:p.Gly1098Asp SP substitution exon 1 VAR_011153 P02461:p.Gly1098Val SP substitution exon 1 VAR_011154 P02461:p.Gly1161Val SP substitution exon 1 VAR_011155 P02461:p.Gly1164Glu SP substitution exon 1 VAR_011156 P02461:p.Gly1164Arg SP substitution exon 1 VAR_011157 P02461:p.Gly1170Val SP substitution exon 1 VAR_011158 P02461:p.Gly1173Arg SP substitution exon 1 VAR_011159 P02461:p.Gly1179Arg SP substitution exon 1 VAR_011160 Q02388:p.Gly1347Arg SP substitution exon 1 VAR_011161 Q02388:p.Gly1519Asp SP substitution exon 1 VAR_011162 Q02388:p.Gly1522Glu SP substitution exon 1 VAR_011163 Q02388:p.Gly1604Arg SP substitution exon 1 VAR_011164 Q02388:p.Gly1652Arg SP substitution exon 1 VAR_011165 Q02388:p.Gly1703Glu SP substitution exon 1 VAR_011166 Q02388:p.Arg1772Trp SP substitution exon 1 VAR_011167 Q02388:p.Gly1776Arg SP substitution exon 1 VAR_011168 Q02388:p.Gly1791Glu SP substitution exon 1 VAR_011169 Q02388:p.Gly1812Arg SP substitution exon 1 VAR_011170 Q02388:p.Gly2006Ala SP substitution exon 1 VAR_011171 Q02388:p.Gly2006Asp SP substitution exon 1 VAR_011172 Q02388:p.Arg2008Cys SP substitution exon 1 VAR_011173 Q02388:p.Gly2009Arg SP substitution exon 1 VAR_011174 Q02388:p.Gly2015Glu SP substitution exon 1 VAR_011175 Q02388:p.Gly2028Ala SP substitution exon 1 VAR_011176 Q02388:p.Gly2028Arg SP substitution exon 1 VAR_011177 Q02388:p.Gly2031Ser SP substitution exon 1 VAR_011178 Q02388:p.Gly2034Trp SP substitution exon 1 VAR_011179 Q02388:p.Gly2037Glu SP substitution exon 1 VAR_011180 Q02388:p.Gly2040Asp SP substitution exon 1 VAR_011181 Q02388:p.Gly2040Val SP substitution exon 1 VAR_011182 Q02388:p.Gly2043Trp SP substitution exon 1 VAR_011183 Q02388:p.Gly2046Val SP substitution exon 1 VAR_011184 Q02388:p.Gly2064Arg SP substitution exon 1 VAR_011185 Q02388:p.Gly2079Arg SP substitution exon 1 VAR_011186 Q02388:p.Gly2132Asp SP substitution exon 1 VAR_011187 Q02388:p.Gly2192Ser SP substitution exon 1 VAR_011188 Q02388:p.Gly2207Arg SP substitution exon 1 VAR_011189 Q02388:p.Gly2251Glu SP substitution exon 1 VAR_011190 Q02388:p.Gly2263Val SP substitution exon 1 VAR_011191 Q02388:p.Gly2287Arg SP substitution exon 1 VAR_011192 Q02388:p.Gly2316Arg SP substitution exon 1 VAR_011193 Q02388:p.Gly2348Arg SP substitution exon 1 VAR_011194 Q02388:p.Gly2366Ser SP substitution exon 1 VAR_011195 Q02388:p.Gly2369Ser SP substitution exon 1 VAR_011196 Q02388:p.Gly2674Asp SP substitution exon 1 VAR_011197 Q02388:p.Gly2713Asp SP substitution exon 1 VAR_011198 Q02388:p.Gly2713Arg SP substitution exon 1 VAR_011199 Q02388:p.Gly2740Ala SP substitution exon 1 VAR_011200 Q02388:p.Gly2775Ser SP substitution exon 1 VAR_011201 Q02388:p.Arg2791Trp SP substitution exon 1 VAR_011202 Q01955:p.Gly43Arg SP substitution exon 1 VAR_011203 Q01955:p.Glu162Gly SP substitution exon 1 VAR_011204 Q01955:p.Gly297Glu SP substitution exon 1 VAR_011205 Q01955:p.Asp326Tyr SP substitution exon 1 VAR_011206 Q01955:p.Gly407Arg SP substitution exon 1 VAR_011207 Q01955:p.Arg408His SP substitution exon 1 VAR_011208 Q01955:p.His451Arg SP substitution exon 1 VAR_011209 Q01955:p.Pro574Leu SP substitution exon 1 VAR_011210 Q01955:p.Gly640Arg SP substitution exon 1 VAR_011211 Q01955:p.Gly1167Arg SP substitution exon 1 VAR_011212 Q01955:p.Gly1207Glu SP substitution exon 1 VAR_011213 Q01955:p.Arg1215Gln SP substitution exon 1 VAR_011214 Q01955:p.Asp1269Glu SP substitution exon 1 VAR_011215 Q01955:p.Gly1277Ser SP substitution exon 1 VAR_011216 Q01955:p.Ile1330Thr SP substitution exon 1 VAR_011217 Q01955:p.Gly1334Glu SP substitution exon 1 VAR_011218 Q01955:p.Asp1347Glu SP substitution exon 1 VAR_011219 Q01955:p.Arg1661Cys SP substitution exon 1 VAR_011292 P16144:p.Arg98His SP substitution exon 1 VAR_011293 P16144:p.Asp131Tyr SP substitution exon 1 VAR_011294 P16144:p.Gly273Asp SP substitution exon 1 VAR_011295 P16144:p.Arg283Cys SP substitution exon 1 VAR_011296 P16144:p.Val325Asp SP substitution exon 1 VAR_011297 P16144:p.Leu336Pro SP substitution exon 1 VAR_011298 P16144:p.Arg844Leu SP substitution exon 1 VAR_011299 P16144:p.Gly931Asp SP substitution exon 1 VAR_011300 P16144:p.His1216Gln SP substitution exon 1 VAR_011301 P16144:p.Arg1225His SP substitution exon 1 VAR_011302 P05091:p.Glu496Lys SP substitution exon 1 VAR_011303 P30838:p.Pro329Ala SP substitution exon 1 VAR_011304 P49189:p.Cys116Ser SP substitution exon 1 VAR_011305 O76024:p.Ala58Val SP substitution exon 1 VAR_011306 O76024:p.Ala126Thr SP substitution exon 1 VAR_011308 O76024:p.Ser443Ile SP substitution exon 1 VAR_011309 O76024:p.Gly674Arg SP substitution exon 1 VAR_011310 O76024:p.Ala684Val SP substitution exon 1 VAR_011311 O76024:p.Arg708Cys SP substitution exon 1 VAR_011315 Q9NRQ2:p.Asn34Ser SP substitution exon 1 VAR_011316 Q9NRQ2:p.Ile155Val SP substitution exon 1 VAR_011317 Q13224:p.Ser407Asn SP substitution exon 1 VAR_011318 Q92481:p.Ala275Asp SP substitution exon 1 VAR_011319 Q92481:p.Arg300Cys SP substitution exon 1 VAR_011320 Q9Y6K9:p.Arg175Pro SP substitution exon 1 VAR_011321 Q9Y6K9:p.Leu227Pro SP substitution exon 1 VAR_011322 Q9Y6K9:p.Ala288Gly SP substitution exon 1 VAR_011323 Q9Y6K9:p.Asp311Asn SP substitution exon 1 VAR_011324 Q9Y6K9:p.Asp406Val SP substitution exon 1 VAR_011325 Q9Y6K9:p.Cys417Phe SP substitution exon 1 VAR_011326 Q9Y6K9:p.Cys417Arg SP substitution exon 1 VAR_011327 O95163:p.Arg696Pro SP substitution exon 1 VAR_011328 P06133:p.Phe109Leu SP substitution exon 1 VAR_011331 Q9BZS1:p.Phe371Cys SP substitution exon 1 VAR_011332 Q9BZS1:p.Ala384Thr SP substitution exon 1 VAR_011333 Q9BZS1:p.Arg397Trp SP substitution exon 1 VAR_011334 P51159:p.Leu130Pro SP substitution exon 1 VAR_011335 P51159:p.Ala152Pro SP substitution exon 1 VAR_011360 Q92535:p.Pro266Ser SP substitution exon 1 VAR_011361 Q13253:p.Pro35Arg SP substitution exon 1 VAR_011362 Q13253:p.Gly189Cys SP substitution exon 1 VAR_011363 Q13253:p.Trp217Gly SP substitution exon 1 VAR_011364 Q13253:p.Ile220Asn SP substitution exon 1 VAR_011365 Q13253:p.Tyr222Cys SP substitution exon 1 VAR_011366 Q13253:p.Tyr222Asp SP substitution exon 1 VAR_011367 Q13253:p.Pro223Leu SP substitution exon 1 VAR_011368 P07204:p.Ala43Thr SP substitution exon 1 VAR_011369 P07204:p.Gly79Ala SP substitution exon 1 VAR_011374 Q13617:p.Asn109Ser SP substitution exon 1 VAR_011375 Q15796:p.Arg133Cys SP substitution exon 1 VAR_011377 Q15796:p.Leu440Arg SP substitution exon 1 VAR_011378 Q15796:p.Pro445His SP substitution exon 1 VAR_011379 Q15796:p.Asp450Glu SP substitution exon 1 VAR_011381 O75593:p.Ser113Thr SP substitution exon 1 VAR_011382 O75593:p.Thr125Ser SP substitution exon 1 VAR_011383 O14791:p.Glu150Lys SP substitution exon 1 VAR_011384 O14791:p.Met228Ile SP substitution exon 1 VAR_011385 O14791:p.Arg255Lys SP substitution exon 1 VAR_011386 O14960:p.Ile58Val SP substitution exon 1 VAR_011389 P28328:p.Glu55Lys SP substitution exon 1 VAR_011390 Q99884:p.Leu345Val SP substitution exon 1 VAR_011392 O15269:p.Cys133Trp SP substitution exon 1 VAR_011393 O15269:p.Cys133Tyr SP substitution exon 1 VAR_011394 O15269:p.Val144Asp SP substitution exon 1 VAR_011395 Q92736:p.Leu433Pro SP substitution exon 1 VAR_011396 Q92736:p.Ser2246Leu SP substitution exon 1 VAR_011397 Q92736:p.Pro2328Ser SP substitution exon 1 VAR_011398 Q92736:p.Asn2386Ile SP substitution exon 1 VAR_011399 Q92736:p.Arg2474Ser SP substitution exon 1 VAR_011400 Q92736:p.Asn4104Lys SP substitution exon 1 VAR_011401 Q92736:p.Gln4201Arg SP substitution exon 1 VAR_011402 Q92736:p.Arg4497Cys SP substitution exon 1 VAR_011403 Q92736:p.Val4653Phe SP substitution exon 1 VAR_011404 Q15413:p.Tyr693Cys SP substitution exon 1 VAR_011405 Q15413:p.Ile731Val SP substitution exon 1 VAR_011406 Q15413:p.Glu1380Gly SP substitution exon 1 VAR_011408 Q9NZJ5:p.Arg588Gln SP substitution exon 1 VAR_011409 Q9NZJ5:p.Ser136Cys SP substitution exon 1 VAR_011410 Q9NZJ5:p.Gln166Arg SP substitution exon 1 VAR_011411 Q9NZJ5:p.Ala704Ser SP substitution exon 1 VAR_011412 P18074:p.Ile199Met SP substitution exon 1 VAR_011413 P18074:p.His201Tyr SP substitution exon 1 VAR_011414 P18074:p.Asp312Asn SP substitution exon 1 VAR_011415 P18074:p.Arg616Cys SP substitution exon 1 VAR_011417 Q9UBN6:p.Pro35Ser SP substitution exon 1 VAR_011418 Q9UBN6:p.Ser310Leu SP substitution exon 1 VAR_011420 Q07837:p.Pro128Gln SP substitution exon 1 VAR_011421 Q07837:p.Arg181Gln SP substitution exon 1 VAR_011422 Q07837:p.Glu268Lys SP substitution exon 1 VAR_011423 Q07837:p.Thr341Ala SP substitution exon 1 VAR_011424 Q07837:p.Arg365Trp SP substitution exon 1 VAR_011435 P30613:p.Gly37Glu SP substitution exon 1 VAR_011436 P30613:p.Ser80Pro SP substitution exon 1 VAR_011437 P30613:p.Arg86Pro SP substitution exon 1 VAR_011438 P30613:p.Ile90Asn SP substitution exon 1 VAR_011439 P30613:p.Gly95Arg SP substitution exon 1 VAR_011440 P30613:p.Gly111Arg SP substitution exon 1 VAR_011441 P30613:p.Ala115Pro SP substitution exon 1 VAR_011442 P30613:p.Ser120Phe SP substitution exon 1 VAR_011443 P30613:p.Ser130Tyr SP substitution exon 1 VAR_011444 P30613:p.Gly159Val SP substitution exon 1 VAR_011445 P30613:p.Gly222Ala SP substitution exon 1 VAR_011446 P30613:p.Asp293Asn SP substitution exon 1 VAR_011447 P30613:p.Gly263Arg SP substitution exon 1 VAR_011448 P30613:p.Gly263Trp SP substitution exon 1 VAR_011449 P30613:p.Val288Leu SP substitution exon 1 VAR_011450 P30613:p.Ala295Val SP substitution exon 1 VAR_011451 P30613:p.Ile310Asn SP substitution exon 1 VAR_011452 P30613:p.Glu315Lys SP substitution exon 1 VAR_011453 P30613:p.Asp331Asn SP substitution exon 1 VAR_011454 P30613:p.Gly341Asp SP substitution exon 1 VAR_011455 P30613:p.Ile342Phe SP substitution exon 1 VAR_011456 P30613:p.Lys348Asn SP substitution exon 1 VAR_011458 P30613:p.Gly364Asp SP substitution exon 1 VAR_011459 P30613:p.Ser376Ile SP substitution exon 1 VAR_011460 P30613:p.Glu387Gly SP substitution exon 1 VAR_011461 P30613:p.Asp390Asn SP substitution exon 1 VAR_011462 P30613:p.Ala394Asp SP substitution exon 1 VAR_011463 P30613:p.Ala394Val SP substitution exon 1 VAR_011464 P30613:p.Thr408Ala SP substitution exon 1 VAR_011465 P30613:p.Glu427Ala SP substitution exon 1 VAR_011466 P30613:p.Glu427Asp SP substitution exon 1 VAR_011467 P30613:p.Thr477Ala SP substitution exon 1 VAR_011468 P30613:p.Ser485Phe SP substitution exon 1 VAR_011469 P30613:p.Arg488Gln SP substitution exon 1 VAR_011470 P30613:p.Ala495Thr SP substitution exon 1 VAR_011471 P30613:p.Arg504Leu SP substitution exon 1 VAR_011472 P30613:p.Gly511Arg SP substitution exon 1 VAR_011473 P30613:p.Arg531Cys SP substitution exon 1 VAR_011474 P30613:p.Ile153Thr SP substitution exon 1 VAR_011475 P30613:p.Ile219Thr SP substitution exon 1 VAR_011476 P30613:p.Val335Met SP substitution exon 1 VAR_011477 P30613:p.Ala352Asp SP substitution exon 1 VAR_011478 P30613:p.Arg385Trp SP substitution exon 1 VAR_011479 P30613:p.Ala468Gly SP substitution exon 1 VAR_011480 P30613:p.Arg479His SP substitution exon 1 VAR_011481 P30613:p.Gly557Ala SP substitution exon 1 VAR_011482 P30613:p.Arg569Gln SP substitution exon 1 VAR_011483 O60313:p.Arg290Gln SP substitution exon 1 VAR_011484 O60313:p.Gly300Glu SP substitution exon 1 VAR_011486 Q9NZM5:p.Gln389Arg SP substitution exon 1 VAR_011488 P33527:p.Arg633Gln SP substitution exon 1 VAR_011489 P33527:p.Gly671Val SP substitution exon 1 VAR_011490 O95255:p.Val614Ala SP substitution exon 1 VAR_011491 O95255:p.Arg1114Pro SP substitution exon 1 VAR_011492 O95255:p.Arg1138Gln SP substitution exon 1 VAR_011493 O95255:p.Arg1138Trp SP substitution exon 1 VAR_011494 O95255:p.Arg1268Gln SP substitution exon 1 VAR_011495 O95255:p.Arg1314Trp SP substitution exon 1 VAR_011496 Q15155:p.Glu1081Lys SP substitution exon 1 VAR_011497 P30301:p.Glu134Gly SP substitution exon 1 VAR_011498 P30301:p.Thr138Arg SP substitution exon 1 VAR_011499 Q9UBC3:p.Ala603Thr SP substitution exon 1 VAR_011500 Q9UBC3:p.Gly663Ser SP substitution exon 1 VAR_011501 Q9UBC3:p.Val726Gly SP substitution exon 1 VAR_011503 Q9UBC3:p.Asp817Gly SP substitution exon 1 VAR_011504 Q9UBC3:p.Val818Met SP substitution exon 1 VAR_011505 Q9UI17:p.His109Arg SP substitution exon 1 VAR_011506 Q9UBC3:p.Ala585Val SP substitution exon 1 VAR_011507 Q9UBC3:p.Val606Ala SP substitution exon 1 VAR_011508 Q9UBC3:p.Val699Gly SP substitution exon 1 VAR_011509 Q9UBC3:p.Ala766Pro SP substitution exon 1 VAR_011510 Q9UBC3:p.His814Arg SP substitution exon 1 VAR_011512 P56539:p.Arg27Gln SP substitution exon 1 VAR_011513 P56539:p.Ala46Thr SP substitution exon 1 VAR_011514 P56539:p.Ala46Val SP substitution exon 1 VAR_011515 O60333:p.Gln98Leu SP substitution exon 1 VAR_011518 Q9Y6Q6:p.Ala192Val SP substitution exon 1 VAR_011519 P16473:p.Cys41Ser SP substitution exon 1 VAR_011520 P16473:p.Arg109Gln SP substitution exon 1 VAR_011521 P16473:p.Pro162Ala SP substitution exon 1 VAR_011522 P16473:p.Ile167Asn SP substitution exon 1 VAR_011523 P16473:p.Ser281Thr SP substitution exon 1 VAR_011524 P16473:p.Arg310Cys SP substitution exon 1 VAR_011525 P16473:p.Cys390Trp SP substitution exon 1 VAR_011526 P16473:p.Asp410Asn SP substitution exon 1 VAR_011527 P16473:p.Gly431Ser SP substitution exon 1 VAR_011528 P16473:p.Arg450His SP substitution exon 1 VAR_011529 P16473:p.Met453Thr SP substitution exon 1 VAR_011530 P16473:p.Met463Val SP substitution exon 1 VAR_011531 P16473:p.Ile486Phe SP substitution exon 1 VAR_011532 P16473:p.Ile486Met SP substitution exon 1 VAR_011533 P16473:p.Gly498Ser SP substitution exon 1 VAR_011534 P16473:p.Ser505Arg SP substitution exon 1 VAR_011535 P16473:p.Val509Ala SP substitution exon 1 VAR_011536 P16473:p.Leu512Arg SP substitution exon 1 VAR_011537 P16473:p.Phe525Leu SP substitution exon 1 VAR_011538 P16473:p.Ala553Thr SP substitution exon 1 VAR_011539 P16473:p.Ile568Thr SP substitution exon 1 VAR_011540 P16473:p.Val597Leu SP substitution exon 1 VAR_011541 P16473:p.Ile606Met SP substitution exon 1 VAR_011542 P16473:p.Ala623Val SP substitution exon 1 VAR_011543 P16473:p.Ile630Leu SP substitution exon 1 VAR_011544 P16473:p.Phe631Cys SP substitution exon 1 VAR_011545 P16473:p.Phe631Leu SP substitution exon 1 VAR_011546 P16473:p.Thr632Ala SP substitution exon 1 VAR_011547 P16473:p.Thr632Ile SP substitution exon 1 VAR_011548 P16473:p.Asp633Ala SP substitution exon 1 VAR_011549 P16473:p.Asp633Glu SP substitution exon 1 VAR_011550 P16473:p.Asp633His SP substitution exon 1 VAR_011551 P16473:p.Asp633Tyr SP substitution exon 1 VAR_011552 P16473:p.Pro639Ser SP substitution exon 1 VAR_011553 P16473:p.Ala647Val SP substitution exon 1 VAR_011554 P16473:p.Asn650Tyr SP substitution exon 1 VAR_011556 P16473:p.Asn670Ser SP substitution exon 1 VAR_011557 P16473:p.Cys672Tyr SP substitution exon 1 VAR_011558 P16473:p.Leu677Val SP substitution exon 1 VAR_011559 P16473:p.Ala703Gly SP substitution exon 1 VAR_011560 P16473:p.Gln720Glu SP substitution exon 1 VAR_011566 P00439:p.Asp145Val SP substitution exon 1 VAR_011567 P00439:p.Asn167Ser SP substitution exon 1 VAR_011568 P00439:p.Arg169His SP substitution exon 1 VAR_011569 P00439:p.His170Asp SP substitution exon 1 VAR_011570 P00439:p.Ile174Val SP substitution exon 1 VAR_011571 P00439:p.Glu205Ala SP substitution exon 1 VAR_011572 P00439:p.Phe240Ser SP substitution exon 1 VAR_011573 P00439:p.Lys274Glu SP substitution exon 1 VAR_011574 P00439:p.Ile318Thr SP substitution exon 1 VAR_011575 P00439:p.Cys357Gly SP substitution exon 1 VAR_011576 P00439:p.Pro407Ser SP substitution exon 1 VAR_011577 P11509:p.Arg128Gln SP substitution exon 1 VAR_011578 P11509:p.Ile471Thr SP substitution exon 1 VAR_011579 P11509:p.Arg485Leu SP substitution exon 1 VAR_011580 P06400:p.Arg500Gly SP substitution exon 1 VAR_011581 P06400:p.Lys616Glu SP substitution exon 1 VAR_011582 P07949:p.Arg844Leu SP substitution exon 1 VAR_011583 Q13093:p.Arg92His SP substitution exon 1 VAR_011584 Q13093:p.Ile198Thr SP substitution exon 1 VAR_011585 Q13093:p.Gln281Arg SP substitution exon 1 VAR_011586 Q13093:p.Val379Ala SP substitution exon 1 VAR_011587 P60484:p.Arg47Gly SP substitution exon 1 VAR_011588 P60484:p.Val119Leu SP substitution exon 1 VAR_011589 P60484:p.Val158Leu SP substitution exon 1 VAR_011590 Q92736:p.Gln2958Arg SP substitution exon 1 VAR_011591 Q9Y345:p.Gln184Arg SP substitution exon 1 VAR_011592 Q9Y345:p.Asp463Asn SP substitution exon 1 VAR_011594 Q9NSD5:p.Val426Ile SP substitution exon 1 VAR_011596 O00203:p.Leu580Arg SP substitution exon 1 VAR_011597 P08684:p.Leu15Pro SP substitution exon 1 VAR_011598 P08684:p.Gly56Asp SP substitution exon 1 VAR_011599 P08684:p.Ile118Val SP substitution exon 1 VAR_011600 P08684:p.Arg130Gln SP substitution exon 1 VAR_011601 P08684:p.Arg162Gln SP substitution exon 1 VAR_011602 P08684:p.Val170Ile SP substitution exon 1 VAR_011603 P08684:p.Asp174His SP substitution exon 1 VAR_011604 P08684:p.Thr185Ser SP substitution exon 1 VAR_011605 P08684:p.Pro218Arg SP substitution exon 1 VAR_011606 P08684:p.Thr363Met SP substitution exon 1 VAR_011607 P08684:p.Leu373Phe SP substitution exon 1 VAR_011608 P08684:p.Pro416Leu SP substitution exon 1 VAR_011609 P02671:p.Ile6Val SP substitution exon 1 VAR_011610 P02671:p.Thr331Ala SP substitution exon 1 VAR_011611 P02671:p.Thr456Ala SP substitution exon 1 VAR_011612 Q99801:p.Arg52Cys SP substitution exon 1 VAR_011613 Q9Y5K5:p.Ile197Phe SP substitution exon 1 VAR_011614 P12955:p.Arg184Gln SP substitution exon 1 VAR_011615 P12955:p.Gly278Asp SP substitution exon 1 VAR_011616 O95050:p.Met205Val SP substitution exon 1 VAR_011617 O95050:p.Glu219Gly SP substitution exon 1 VAR_011618 P58304:p.Arg200Pro SP substitution exon 1 VAR_011619 P58304:p.Arg200Gln SP substitution exon 1 VAR_011620 P01009:p.Thr109Met SP substitution exon 1 VAR_011621 P07339:p.Ala58Val SP substitution exon 1 VAR_011623 O43511:p.Thr193Ile SP substitution exon 1 VAR_011624 O43511:p.Leu445Trp SP substitution exon 1 VAR_011625 P49959:p.Ser104Cys SP substitution exon 1 VAR_011626 P49959:p.Met157Val SP substitution exon 1 VAR_011627 P49959:p.Arg503His SP substitution exon 1 VAR_011628 P49959:p.Arg572Gln SP substitution exon 1 VAR_011630 Q9BPW8:p.Glu245Lys SP substitution exon 1 VAR_011631 Q9NYK6:p.Gln117Arg SP substitution exon 1 VAR_011632 Q9NYK6:p.Asp136Glu SP substitution exon 1 VAR_011633 O43612:p.Leu16Arg SP substitution exon 1 VAR_011634 P07195:p.Gly69Glu SP substitution exon 1 VAR_011635 P07195:p.Arg107Trp SP substitution exon 1 VAR_011636 P07195:p.Arg172Pro SP substitution exon 1 VAR_011638 P07195:p.Trp325Arg SP substitution exon 1 VAR_011639 Q9UNF1:p.Gln266Arg SP substitution exon 1 VAR_011640 Q16663:p.Ile24Thr SP substitution exon 1 VAR_011641 P82279:p.Ala161Val SP substitution exon 1 VAR_011642 P82279:p.Cys250Trp SP substitution exon 1 VAR_011643 P82279:p.Thr745Met SP substitution exon 1 VAR_011644 P82279:p.Arg764Cys SP substitution exon 1 VAR_011650 P10323:p.Leu120Val SP substitution exon 1 VAR_011651 P10323:p.Phe166Leu SP substitution exon 1 VAR_011652 P07477:p.Asp22Gly SP substitution exon 1 VAR_011653 P07477:p.Lys23Arg SP substitution exon 1 VAR_011654 P07477:p.Leu104Pro SP substitution exon 1 VAR_011655 P07477:p.Arg116Cys SP substitution exon 1 VAR_011656 P07477:p.Cys139Phe SP substitution exon 1 VAR_011657 P24394:p.Glu400Ala SP substitution exon 1 VAR_011658 P24394:p.Cys431Arg SP substitution exon 1 VAR_011659 P24394:p.Ser436Leu SP substitution exon 1 VAR_011660 P24394:p.Ser503Pro SP substitution exon 1 VAR_011661 P24394:p.Val579Ile SP substitution exon 1 VAR_011664 Q13888:p.Ile151Met SP substitution exon 1 VAR_011665 Q13888:p.Val236Leu SP substitution exon 1 VAR_011666 P28329:p.Leu210Pro SP substitution exon 1 VAR_011667 P28329:p.Pro211Ala SP substitution exon 1 VAR_011668 P28329:p.Ile305Thr SP substitution exon 1 VAR_011669 P28329:p.Arg420Cys SP substitution exon 1 VAR_011670 P28329:p.Glu441Lys SP substitution exon 1 VAR_011671 P28329:p.Arg482Gly SP substitution exon 1 VAR_011672 P28329:p.Ser498Leu SP substitution exon 1 VAR_011673 P28329:p.Val506Leu SP substitution exon 1 VAR_011674 P28329:p.Arg560His SP substitution exon 1 VAR_011675 P28329:p.Ala120Thr SP substitution exon 1 VAR_011676 P28329:p.Ala392Gly SP substitution exon 1 VAR_011677 P12757:p.Ala38Val SP substitution exon 1 VAR_011678 P57727:p.Trp251Cys SP substitution exon 1 VAR_011680 P68133:p.Gly17Arg SP substitution exon 1 VAR_011681 P68133:p.Leu96Pro SP substitution exon 1 VAR_011682 P68133:p.Asn117Ser SP substitution exon 1 VAR_011683 P68133:p.Ile138Met SP substitution exon 1 VAR_011684 P68133:p.Val165Leu SP substitution exon 1 VAR_011685 P68133:p.Glu261Val SP substitution exon 1 VAR_011686 P68133:p.Gly270Cys SP substitution exon 1 VAR_011687 P68133:p.Val372Phe SP substitution exon 1 VAR_011688 P00995:p.Leu14Pro SP substitution exon 1 VAR_011689 P00995:p.Asn34Ser SP substitution exon 1 VAR_011690 P00995:p.Pro55Ser SP substitution exon 1 VAR_011691 P24158:p.Val119Ile SP substitution exon 1 VAR_011692 O15393:p.Lys449Asn SP substitution exon 1 VAR_011693 P07477:p.Ala16Val SP substitution exon 1 VAR_011698 P17900:p.Arg169Pro SP substitution exon 1 VAR_011699 Q15049:p.Ser93Leu SP substitution exon 1 VAR_011700 Q15049:p.Thr118Arg SP substitution exon 1 VAR_011701 Q15049:p.Gly212Arg SP substitution exon 1 VAR_011702 Q15049:p.Ser280Leu SP substitution exon 1 VAR_011703 P31391:p.Asn83Thr SP substitution exon 1 VAR_011704 P07686:p.Ser255Arg SP substitution exon 1 VAR_011707 P12821:p.Ala261Ser SP substitution exon 1 VAR_011708 P12821:p.Arg561Trp SP substitution exon 1 VAR_011709 P12821:p.Arg1286Ser SP substitution exon 1 VAR_011713 P24158:p.Ala135Thr SP substitution exon 1 VAR_011714 P24158:p.Thr136Ser SP substitution exon 1 VAR_011715 P28222:p.Phe124Cys SP substitution exon 1 VAR_011716 P36896:p.Leu408Val SP substitution exon 1 VAR_011717 P37023:p.Ile245Asn SP substitution exon 1 VAR_011718 P54108:p.Ser106Pro SP substitution exon 1 VAR_011719 P54108:p.Ala134Ser SP substitution exon 1 VAR_011720 P35613:p.Gly269Val SP substitution exon 1 VAR_011721 P31997:p.Arg114Lys SP substitution exon 1 VAR_011722 Q12860:p.Val798Leu SP substitution exon 1 VAR_011723 Q00889:p.Leu155Phe SP substitution exon 1 VAR_011724 Q00889:p.Arg165Leu SP substitution exon 1 VAR_011725 Q00889:p.Ile167Thr SP substitution exon 1 VAR_011726 Q00889:p.Leu180Trp SP substitution exon 1 VAR_011727 Q00889:p.Leu181Met SP substitution exon 1 VAR_011728 Q00889:p.Asn185Ser SP substitution exon 1 VAR_011729 Q00889:p.Arg191Ser SP substitution exon 1 VAR_011730 Q00889:p.Lys196Glu SP substitution exon 1 VAR_011731 Q00889:p.Lys253Asn SP substitution exon 1 VAR_011732 Q00889:p.Leu257Ser SP substitution exon 1 VAR_011733 Q00889:p.Ala258Thr SP substitution exon 1 VAR_011735 Q00889:p.Ile404Ser SP substitution exon 1 VAR_011736 P15151:p.Ile340Met SP substitution exon 1 VAR_011737 P43355:p.Arg72Gln SP substitution exon 1 VAR_011738 O43819:p.Arg20Pro SP substitution exon 1 VAR_011739 Q92523:p.Glu531Lys SP substitution exon 1 VAR_011740 Q92523:p.Ser664Tyr SP substitution exon 1 VAR_011741 P23786:p.Ser588Cys SP substitution exon 1 VAR_011742 P01011:p.Asp407Gly SP substitution exon 1 VAR_011743 P05120:p.Asn120Asp SP substitution exon 1 VAR_011744 P05120:p.Asn404Lys SP substitution exon 1 VAR_011745 P05120:p.Ser413Cys SP substitution exon 1 VAR_011746 P05546:p.Ala7Thr SP substitution exon 1 VAR_011747 P05546:p.His60Pro SP substitution exon 1 VAR_011748 P05546:p.Lys237Arg SP substitution exon 1 VAR_011749 P05546:p.Thr442Met SP substitution exon 1 VAR_011750 P05121:p.Val17Ile SP substitution exon 1 VAR_011751 P05155:p.Thr308Ser SP substitution exon 1 VAR_011752 Q16678:p.Arg48Gly SP substitution exon 1 VAR_011753 Q16678:p.Ala119Ser SP substitution exon 1 VAR_011754 P10632:p.Ile264Met SP substitution exon 1 VAR_011755 P05093:p.Cys22Trp SP substitution exon 1 VAR_011756 P23975:p.Val69Ile SP substitution exon 1 VAR_011757 P23975:p.Thr99Ile SP substitution exon 1 VAR_011758 P23975:p.Val245Ile SP substitution exon 1 VAR_011759 P23975:p.Asn292Thr SP substitution exon 1 VAR_011760 P23975:p.Val356Leu SP substitution exon 1 VAR_011761 P23975:p.Ala369Pro SP substitution exon 1 VAR_011762 P23975:p.Asn375Ser SP substitution exon 1 VAR_011763 P23975:p.Lys463Arg SP substitution exon 1 VAR_011764 P23975:p.Gly478Ser SP substitution exon 1 VAR_011765 P23975:p.Phe528Cys SP substitution exon 1 VAR_011766 P23975:p.Tyr548His SP substitution exon 1 VAR_011767 P31641:p.Ile17Met SP substitution exon 1 VAR_011768 P31641:p.Leu18Val SP substitution exon 1 VAR_011769 P31641:p.Trp236Cys SP substitution exon 1 VAR_011770 P23946:p.Gly46Arg SP substitution exon 1 VAR_011771 P23946:p.His66Arg SP substitution exon 1 VAR_011773 P00740:p.Thr194Ala SP substitution exon 1 VAR_011774 P03951:p.Pro66Leu SP substitution exon 1 VAR_011775 P03951:p.Gln244Arg SP substitution exon 1 VAR_011776 P03951:p.Ile308Phe SP substitution exon 1 VAR_011777 P03951:p.Cys339Phe SP substitution exon 1 VAR_011778 P03951:p.Trp399Arg SP substitution exon 1 VAR_011779 P00747:p.Ile46Arg SP substitution exon 1 VAR_011780 P00747:p.Lys453Ile SP substitution exon 1 VAR_011781 P00734:p.Thr165Met SP substitution exon 1 VAR_011782 P00734:p.Pro386Thr SP substitution exon 1 VAR_011783 P00750:p.Arg164Trp SP substitution exon 1 VAR_011784 P10828:p.Thr337Ile SP substitution exon 1 VAR_011785 P41235:p.Pro445Ser SP substitution exon 1 VAR_011786 P37268:p.Lys45Arg SP substitution exon 1 VAR_011788 P48444:p.Phe186Leu SP substitution exon 1 VAR_011789 P48444:p.Lys309Asn SP substitution exon 1 VAR_011790 P16581:p.Cys130Trp SP substitution exon 1 VAR_011791 P16581:p.Glu295Lys SP substitution exon 1 VAR_011792 P16581:p.Glu421Gln SP substitution exon 1 VAR_011793 P16581:p.His468Tyr SP substitution exon 1 VAR_011794 P16581:p.Leu575Phe SP substitution exon 1 VAR_011795 P40225:p.Leu14Pro SP substitution exon 1 VAR_011796 P40225:p.Gly116Glu SP substitution exon 1 VAR_011797 P23560:p.Gln75His SP substitution exon 1 VAR_011798 P23560:p.Arg125Met SP substitution exon 1 VAR_011799 P23560:p.Arg127Leu SP substitution exon 1 VAR_011800 O43913:p.Gly37Arg SP substitution exon 1 VAR_011801 P54762:p.Thr87Ser SP substitution exon 1 VAR_011802 P54762:p.Gly152Arg SP substitution exon 1 VAR_011803 P54762:p.Arg367Gly SP substitution exon 1 VAR_011804 P54762:p.Arg485Ser SP substitution exon 1 VAR_011806 Q13487:p.Leu118Val SP substitution exon 1 VAR_011807 P19623:p.Leu149Val SP substitution exon 1 VAR_011808 P48546:p.Ala207Val SP substitution exon 1 VAR_011809 P48546:p.Leu262Val SP substitution exon 1 VAR_011810 P48546:p.Glu354Gln SP substitution exon 1 VAR_011811 P41587:p.Ala39Thr SP substitution exon 1 VAR_011812 P41587:p.Arg412His SP substitution exon 1 VAR_011813 P19438:p.Pro305Thr SP substitution exon 1 VAR_011814 Q93038:p.Arg370Leu SP substitution exon 1 VAR_011815 Q93038:p.Arg381His SP substitution exon 1 VAR_011816 P09923:p.His298Leu SP substitution exon 1 VAR_011817 P22102:p.Leu21Phe SP substitution exon 1 VAR_011818 P22102:p.Val421Ile SP substitution exon 1 VAR_011820 Q13275:p.Ala474Gly SP substitution exon 1 VAR_011821 P30533:p.Val311Met SP substitution exon 1 VAR_011823 O15265:p.Lys264Arg SP substitution exon 1 VAR_011824 O15265:p.Pro663Ser SP substitution exon 1 VAR_011825 P14679:p.Arg308Thr SP substitution exon 1 VAR_011826 P08908:p.Gly22Ser SP substitution exon 1 VAR_011827 P08908:p.Ile28Val SP substitution exon 1 VAR_011828 P08908:p.Pro184Leu SP substitution exon 1 VAR_011829 P08908:p.Arg220Leu SP substitution exon 1 VAR_011830 P08908:p.Gly273Asp SP substitution exon 1 VAR_011831 P28222:p.Phe219Leu SP substitution exon 1 VAR_011832 P28222:p.Ile367Val SP substitution exon 1 VAR_011833 P28222:p.Glu374Lys SP substitution exon 1 VAR_011834 P28221:p.Ser265Leu SP substitution exon 1 VAR_011835 P29274:p.Ala50Val SP substitution exon 1 VAR_011837 P21918:p.Leu88Arg SP substitution exon 1 VAR_011839 P51681:p.Ala29Ser SP substitution exon 1 VAR_011840 P51681:p.Leu55Gln SP substitution exon 1 VAR_011841 P51681:p.Arg60Ser SP substitution exon 1 VAR_011842 P51681:p.Arg223Gln SP substitution exon 1 VAR_011843 P51681:p.Gly301Val SP substitution exon 1 VAR_011844 P32247:p.Thr53Pro SP substitution exon 1 VAR_011845 P32247:p.Leu162Gln SP substitution exon 1 VAR_011846 P30556:p.Leu48Val SP substitution exon 1 VAR_011847 P30556:p.Cys289Trp SP substitution exon 1 VAR_011848 P30556:p.Thr336Pro SP substitution exon 1 VAR_011849 P50052:p.Arg248Lys SP substitution exon 1 VAR_011850 P50052:p.Cys268Trp SP substitution exon 1 VAR_011851 P25105:p.Ala224Asp SP substitution exon 1 VAR_011852 P25105:p.Asn338Ser SP substitution exon 1 VAR_011853 P32745:p.Ser411Thr SP substitution exon 1 VAR_011854 P51582:p.Val168Met SP substitution exon 1 VAR_011855 P51582:p.Asn178Thr SP substitution exon 1 VAR_011856 P51582:p.Pro191Leu SP substitution exon 1 VAR_011857 P34981:p.Asn10Lys SP substitution exon 1 VAR_011858 P30518:p.Ala42Val SP substitution exon 1 VAR_011859 P46089:p.Arg222His SP substitution exon 1 VAR_011860 O75388:p.Phe327Leu SP substitution exon 1 VAR_011861 O15552:p.Leu211His SP substitution exon 1 VAR_011862 P01130:p.Gly2Arg SP substitution exon 1 VAR_011863 P01130:p.Val468Ile SP substitution exon 1 VAR_011865 P98155:p.Val59Ile SP substitution exon 1 VAR_011866 P98155:p.Glu379Lys SP substitution exon 1 VAR_011867 P33241:p.Ala100Thr SP substitution exon 1 VAR_011868 P33241:p.Gln229Lys SP substitution exon 1 VAR_011869 P05091:p.Glu337Val SP substitution exon 1 VAR_011870 P38936:p.Ser31Arg SP substitution exon 1 VAR_011871 P46527:p.Arg15Trp SP substitution exon 1 VAR_011872 P46527:p.Val109Gly SP substitution exon 1 VAR_011873 P19827:p.Ser263Thr SP substitution exon 1 VAR_011876 P49768:p.Phe205Leu SP substitution exon 1 VAR_011877 P43003:p.Glu219Asp SP substitution exon 1 VAR_011878 P43007:p.Gly37Arg SP substitution exon 1 VAR_011880 O43364:p.Met196Leu SP substitution exon 1 VAR_011881 P31249:p.Ser129Cys SP substitution exon 1 VAR_011882 Q99259:p.Val474Gly SP substitution exon 1 VAR_011883 Q99259:p.Arg532Gln SP substitution exon 1 VAR_011884 Q99259:p.Phe565Leu SP substitution exon 1 VAR_011885 O14828:p.Leu38Arg SP substitution exon 1 VAR_011886 O14828:p.Val235Ala SP substitution exon 1 VAR_011887 O14828:p.Ile239Asn SP substitution exon 1 VAR_011888 O14828:p.Val242Asp SP substitution exon 1 VAR_011889 P07357:p.Gln93Lys SP substitution exon 1 VAR_011890 P07357:p.Thr407Ile SP substitution exon 1 VAR_011891 P07357:p.Arg485Leu SP substitution exon 1 VAR_011892 P07357:p.Glu561Gln SP substitution exon 1 VAR_011893 P01034:p.Ala25Thr SP substitution exon 1 VAR_011894 P01185:p.Pro82Leu SP substitution exon 1 VAR_011895 P01185:p.Gly119Val SP substitution exon 1 VAR_011896 O43665:p.Ala94Val SP substitution exon 1 VAR_011897 Q13438:p.Arg398Trp SP substitution exon 1 VAR_011898 O60575:p.Val7Ile SP substitution exon 1 VAR_011899 P61916:p.Pro86Leu SP substitution exon 1 VAR_011900 P50502:p.Met297Ile SP substitution exon 1 VAR_011901 Q14653:p.Arg96Gln SP substitution exon 1 VAR_011902 Q14653:p.Glu377Lys SP substitution exon 1 VAR_011903 Q14653:p.Ser427Thr SP substitution exon 1 VAR_011904 P09110:p.Glu172Asp SP substitution exon 1 VAR_011905 P08833:p.Val183Ile SP substitution exon 1 VAR_011906 P22692:p.Val42Gly SP substitution exon 1 VAR_011907 P24592:p.Thr236Pro SP substitution exon 1 VAR_011908 P19174:p.Ile813Thr SP substitution exon 1 VAR_011911 P04054:p.Asp16Ala SP substitution exon 1 VAR_011912 P04054:p.Asn89Thr SP substitution exon 1 VAR_011913 P04054:p.Asn89Lys SP substitution exon 1 VAR_011914 Q00013:p.Glu448Gln SP substitution exon 1 VAR_011915 P78556:p.Val47Met SP substitution exon 1 VAR_011916 P55773:p.Val106Met SP substitution exon 1 VAR_011917 P01241:p.Thr3Ala SP substitution exon 1 VAR_011918 P01241:p.Ser105Cys SP substitution exon 1 VAR_011919 P01241:p.Val136Ile SP substitution exon 1 VAR_011920 Q06055:p.Ser58Ile SP substitution exon 1 VAR_011921 Q06055:p.Met141Lys SP substitution exon 1 VAR_011922 P48201:p.Gly93Glu SP substitution exon 1 VAR_011923 P98173:p.Trp213Cys SP substitution exon 1 VAR_011924 Q04941:p.Ala91Ser SP substitution exon 1 VAR_011925 O43405:p.Thr352Ser SP substitution exon 1 VAR_011926 O43405:p.Pro532Ser SP substitution exon 1 VAR_011928 P41273:p.Pro17Ala SP substitution exon 1 VAR_011930 P48047:p.Lys98Arg SP substitution exon 1 VAR_011931 P05090:p.Phe15Ser SP substitution exon 1 VAR_011932 P05090:p.Ser115Leu SP substitution exon 1 VAR_011933 P05090:p.Thr178Lys SP substitution exon 1 VAR_011934 P22303:p.Val333Glu SP substitution exon 1 VAR_011935 P08118:p.Leu17Ser SP substitution exon 1 VAR_011936 P08118:p.Ile25Met SP substitution exon 1 VAR_011937 P08118:p.Trp52Arg SP substitution exon 1 VAR_011938 P08118:p.Gln53Arg SP substitution exon 1 VAR_011939 P08118:p.Asp80Ala SP substitution exon 1 VAR_011940 P08118:p.Ile87Thr SP substitution exon 1 VAR_011941 P08118:p.Glu91Gly SP substitution exon 1 VAR_011942 P08118:p.Asp92Gly SP substitution exon 1 VAR_011943 P08118:p.Val98Leu SP substitution exon 1 VAR_011944 P62736:p.Thr196Ser SP substitution exon 1 VAR_011945 P62736:p.Thr320Ala SP substitution exon 1 VAR_011947 P07098:p.Thr161Ala SP substitution exon 1 VAR_011948 P06858:p.Asp36Asn SP substitution exon 1 VAR_011949 P06858:p.Ala288Thr SP substitution exon 1 VAR_011950 P06858:p.Val370Met SP substitution exon 1 VAR_011951 P06858:p.Thr379Ala SP substitution exon 1 VAR_011952 P06858:p.Ala427Thr SP substitution exon 1 VAR_011953 P07333:p.Tyr969Cys SP substitution exon 1 VAR_011954 P04035:p.Ile638Val SP substitution exon 1 VAR_011955 P41159:p.Val110Met SP substitution exon 1 VAR_011958 Q08117:p.Ala168Glu SP substitution exon 1 VAR_011959 P01344:p.Lys120Asn SP substitution exon 1 VAR_011960 P01344:p.Pro173Gln SP substitution exon 1 VAR_011961 P01344:p.Lys180Asn SP substitution exon 1 VAR_011962 P04808:p.Lys28Met SP substitution exon 1 VAR_011963 P15328:p.Trp160Cys SP substitution exon 1 VAR_011964 Q15293:p.Thr71Asn SP substitution exon 1 VAR_011965 Q15293:p.Asp73Tyr SP substitution exon 1 VAR_011966 Q15293:p.Gln74Glu SP substitution exon 1 VAR_011967 Q15293:p.Arg188Pro SP substitution exon 1 VAR_011968 P20594:p.Gln771Glu SP substitution exon 1 VAR_011969 P03956:p.Gln29Pro SP substitution exon 1 VAR_011970 P03956:p.Asp252Gly SP substitution exon 1 VAR_011971 P45452:p.His2Leu SP substitution exon 1 VAR_011972 P42892:p.Thr341Ile SP substitution exon 1 VAR_011973 Q16620:p.Asn338Tyr SP substitution exon 1 VAR_011974 Q13007:p.Tyr124His SP substitution exon 1 VAR_011975 P07585:p.Glu273Gln SP substitution exon 1 VAR_011976 P51888:p.Asn348His SP substitution exon 1 VAR_011977 Q00403:p.Pro19Ser SP substitution exon 1 VAR_011978 O75712:p.Arg32Trp SP substitution exon 1 VAR_011982 P06703:p.His27Arg SP substitution exon 1 VAR_011983 P06703:p.Asn69Ser SP substitution exon 1 VAR_011984 P06703:p.Ile83Thr SP substitution exon 1 VAR_011985 O43914:p.Tyr111His SP substitution exon 1 VAR_011986 P42701:p.Met365Thr SP substitution exon 1 VAR_011987 P42701:p.Gly378Arg SP substitution exon 1 VAR_011988 P40238:p.Ala58Val SP substitution exon 1 VAR_011989 P40238:p.Glu168Lys SP substitution exon 1 VAR_011990 P49748:p.Ala359Ser SP substitution exon 1 VAR_011992 P13473:p.Pro256His SP substitution exon 1 VAR_011993 Q06323:p.Ser55Asn SP substitution exon 1 VAR_011994 Q06323:p.Thr244Lys SP substitution exon 1 VAR_011995 O75558:p.Glu31Gln SP substitution exon 1 VAR_011996 O75558:p.Leu204His SP substitution exon 1 VAR_011997 P02787:p.Gly142Ser SP substitution exon 1 VAR_011998 P02787:p.Gly277Ser SP substitution exon 1 VAR_011999 P02787:p.Trp377Cys SP substitution exon 1 VAR_012002 P53778:p.Thr244Met SP substitution exon 1 VAR_012003 P60896:p.Asp17Gly SP substitution exon 1 VAR_012004 P10646:p.Val292Met SP substitution exon 1 VAR_012005 P48307:p.Val102Ala SP substitution exon 1 VAR_012006 P50995:p.Arg230Cys SP substitution exon 1 VAR_012007 P50995:p.Ile457Val SP substitution exon 1 VAR_012008 P13726:p.Arg163Trp SP substitution exon 1 VAR_012009 P04000:p.Thr65Ile SP substitution exon 1 VAR_012010 P04000:p.Ile111Val SP substitution exon 1 VAR_012011 P04000:p.Ser116Tyr SP substitution exon 1 VAR_012012 P04000:p.Leu153Met SP substitution exon 1 VAR_012013 P04000:p.Ala174Val SP substitution exon 1 VAR_012014 P04000:p.Ile230Thr SP substitution exon 1 VAR_012015 P04000:p.Ala298Pro SP substitution exon 1 VAR_012016 P04000:p.Tyr309Phe SP substitution exon 1 VAR_012017 P17028:p.Asn220Ser SP substitution exon 1 VAR_012018 P17028:p.Gly331Trp SP substitution exon 1 VAR_012019 Q02386:p.Ala187Thr SP substitution exon 1 VAR_012020 Q02386:p.Arg255Lys SP substitution exon 1 VAR_012021 Q02386:p.Thr299Ala SP substitution exon 1 VAR_012022 Q02386:p.Pro303Arg SP substitution exon 1 VAR_012023 Q02386:p.Arg504Lys SP substitution exon 1 VAR_012024 P52740:p.Pro252Leu SP substitution exon 1 VAR_012026 Q15928:p.Arg349Lys SP substitution exon 1 VAR_012027 Q15928:p.Lys358Asn SP substitution exon 1 VAR_012028 P22830:p.Arg96Gln SP substitution exon 1 VAR_012029 O00410:p.Leu286Ile SP substitution exon 1 VAR_012030 O00410:p.Glu525Lys SP substitution exon 1 VAR_012031 O00410:p.Glu549Lys SP substitution exon 1 VAR_012034 Q16698:p.Lys333Asn SP substitution exon 1 VAR_012035 P52803:p.Asn55Lys SP substitution exon 1 VAR_012037 O43181:p.Thr174Pro SP substitution exon 1 VAR_012038 P04003:p.Trp473Leu SP substitution exon 1 VAR_012039 P20851:p.Pro198Ser SP substitution exon 1 VAR_012041 P39086:p.Ile757Val SP substitution exon 1 VAR_012042 P39086:p.Ala870Val SP substitution exon 1 VAR_012043 P39086:p.Leu902Ser SP substitution exon 1 VAR_012044 O00115:p.Arg314Leu SP substitution exon 1 VAR_012045 P11684:p.Arg56Gly SP substitution exon 1 VAR_012046 P11684:p.Thr68Ala SP substitution exon 1 VAR_012047 P01225:p.Ser20Ile SP substitution exon 1 VAR_012048 Q93091:p.Arg89Gln SP substitution exon 1 VAR_012050 P61626:p.Thr88Asn SP substitution exon 1 VAR_012051 P49755:p.Ser64Tyr SP substitution exon 1 VAR_012052 Q00973:p.Leu35Val SP substitution exon 1 VAR_012053 Q00973:p.Gly172Arg SP substitution exon 1 VAR_012054 P19075:p.Ser213Ala SP substitution exon 1 VAR_012055 P41218:p.Val286Leu SP substitution exon 1 VAR_012056 Q05823:p.Arg462Gln SP substitution exon 1 VAR_012058 P35680:p.Gly492Ser SP substitution exon 1 VAR_012059 P47881:p.Arg125Gln SP substitution exon 1 VAR_012060 P14672:p.Thr78Ser SP substitution exon 1 VAR_012061 O14880:p.Gly15Cys SP substitution exon 1 VAR_012062 O14880:p.Pro48Ser SP substitution exon 1 VAR_012063 Q06432:p.Gly196Ser SP substitution exon 1 VAR_012064 Q16853:p.Tyr317His SP substitution exon 1 VAR_012065 P54219:p.Ile136Thr SP substitution exon 1 VAR_012066 P05164:p.Ile717Val SP substitution exon 1 VAR_012067 Q10589:p.Val143Phe SP substitution exon 1 VAR_012070 P05412:p.Thr297Met SP substitution exon 1 VAR_012071 P51636:p.Gln130Glu SP substitution exon 1 VAR_012072 P28070:p.Met95Ile SP substitution exon 1 VAR_012073 P55058:p.Phe444Leu SP substitution exon 1 VAR_012075 O60568:p.Arg286Trp SP substitution exon 1 VAR_012076 Q14956:p.Ser195Cys SP substitution exon 1 VAR_012077 Q14956:p.Asn197His SP substitution exon 1 VAR_012078 O15537:p.Lys222Asn SP substitution exon 1 VAR_012079 O75791:p.Leu319Phe SP substitution exon 1 VAR_012080 P10997:p.Ser53Gly SP substitution exon 1 VAR_012083 P41143:p.Cys27Phe SP substitution exon 1 VAR_012084 P20783:p.Gly76Glu SP substitution exon 1 VAR_012085 P03951:p.Asp34His SP substitution exon 1 VAR_012086 P03951:p.Trp246Cys SP substitution exon 1 VAR_012087 P03951:p.Ser266Asn SP substitution exon 1 VAR_012088 P03951:p.Leu320Pro SP substitution exon 1 VAR_012089 P03951:p.Thr322Ile SP substitution exon 1 VAR_012090 P03951:p.Arg326Cys SP substitution exon 1 VAR_012091 P03951:p.Glu341Lys SP substitution exon 1 VAR_012092 P03951:p.Thr404Asn SP substitution exon 1 VAR_012093 P03951:p.Ala430Val SP substitution exon 1 VAR_012094 P03951:p.Phe460Val SP substitution exon 1 VAR_012095 P03951:p.Thr493Ile SP substitution exon 1 VAR_012096 P03951:p.Ser594Arg SP substitution exon 1 VAR_012097 Q9NRR2:p.Met60Val SP substitution exon 1 VAR_012098 Q9NRR2:p.Ile126Met SP substitution exon 1 VAR_012099 Q9NRR2:p.Ser132Thr SP substitution exon 1 VAR_012100 Q9NRR2:p.Leu204Ile SP substitution exon 1 VAR_012101 Q9NRR2:p.Leu288Phe SP substitution exon 1 VAR_012105 Q15125:p.Glu80Lys SP substitution exon 1 VAR_012106 Q15125:p.Arg110Gln SP substitution exon 1 VAR_012107 Q15125:p.Arg147Gly SP substitution exon 1 VAR_012108 Q15125:p.Arg147His SP substitution exon 1 VAR_012109 O75880:p.Pro174Leu SP substitution exon 1 VAR_012111 P12235:p.Ala114Pro SP substitution exon 1 VAR_012112 P12235:p.Val289Met SP substitution exon 1 VAR_012113 P46100:p.Gly175Glu SP substitution exon 1 VAR_012115 P46100:p.Asn179Ser SP substitution exon 1 VAR_012116 P46100:p.Pro190Leu SP substitution exon 1 VAR_012117 P46100:p.Pro190Ser SP substitution exon 1 VAR_012118 P46100:p.Val194Ile SP substitution exon 1 VAR_012119 P46100:p.Gln219Pro SP substitution exon 1 VAR_012120 P46100:p.Gly249Cys SP substitution exon 1 VAR_012121 P46100:p.Val1538Gly SP substitution exon 1 VAR_012122 P46100:p.Val1552Phe SP substitution exon 1 VAR_012123 P46100:p.Leu1645Ser SP substitution exon 1 VAR_012124 P46100:p.Pro1713Ser SP substitution exon 1 VAR_012125 P46100:p.Arg1742Lys SP substitution exon 1 VAR_012126 P46100:p.Tyr1847Cys SP substitution exon 1 VAR_012127 P46100:p.Ile2050Thr SP substitution exon 1 VAR_012128 Q01196:p.Arg139Gln SP substitution exon 1 VAR_012129 Q01196:p.Arg174Gln SP substitution exon 1 VAR_012132 Q13950:p.Leu113Arg SP substitution exon 1 VAR_012133 Q13950:p.Ser118Arg SP substitution exon 1 VAR_012134 Q13950:p.Phe121Cys SP substitution exon 1 VAR_012135 Q13950:p.Cys123Arg SP substitution exon 1 VAR_012137 Q13950:p.Arg169Gln SP substitution exon 1 VAR_012138 Q13950:p.Met175Arg SP substitution exon 1 VAR_012139 Q13950:p.Arg190Gln SP substitution exon 1 VAR_012140 Q13950:p.Arg190Trp SP substitution exon 1 VAR_012141 Q13950:p.Ser191Asn SP substitution exon 1 VAR_012142 Q13950:p.Arg193Cys SP substitution exon 1 VAR_012143 Q13950:p.Phe197Ser SP substitution exon 1 VAR_012144 Q13950:p.Leu199Phe SP substitution exon 1 VAR_012145 Q13950:p.Thr200Ala SP substitution exon 1 VAR_012146 Q13950:p.Thr205Arg SP substitution exon 1 VAR_012147 Q13950:p.Gln209Arg SP substitution exon 1 VAR_012148 Q13950:p.Arg225Gln SP substitution exon 1 VAR_012149 Q13950:p.Arg225Trp SP substitution exon 1 VAR_012150 Q13950:p.Gly511Ser SP substitution exon 1 VAR_012153 P54098:p.Arg3Pro SP substitution exon 1 VAR_012154 P54098:p.Leu304Arg SP substitution exon 1 VAR_012155 P54098:p.Ala467Thr SP substitution exon 1 VAR_012156 P54098:p.Tyr955Cys SP substitution exon 1 VAR_012157 Q9NRM0:p.Gly25Arg SP substitution exon 1 VAR_012158 Q9NRM0:p.Val282Ile SP substitution exon 1 VAR_012159 Q9NRM0:p.Pro350Leu SP substitution exon 1 VAR_012160 O15259:p.Gly342Arg SP substitution exon 1 VAR_012161 Q9UHC7:p.Val243Leu SP substitution exon 1 VAR_012162 Q9UMX9:p.Leu374Phe SP substitution exon 1 VAR_012164 Q13515:p.Arg287Trp SP substitution exon 1 VAR_012166 Q9H251:p.Arg3Cys SP substitution exon 1 VAR_012167 Q9H251:p.Gly490Ala SP substitution exon 1 VAR_012168 Q9H251:p.Ser496Asn SP substitution exon 1 VAR_012169 Q9H251:p.Asp990Asn SP substitution exon 1 VAR_012170 Q9H251:p.Ala1222Thr SP substitution exon 1 VAR_012172 Q9H251:p.Arg1349Cys SP substitution exon 1 VAR_012173 Q9H251:p.Asn1351Asp SP substitution exon 1 VAR_012174 Q9H251:p.Gln1496His SP substitution exon 1 VAR_012175 Q9H251:p.Ala1575Thr SP substitution exon 1 VAR_012176 Q9H251:p.Thr1671Ser SP substitution exon 1 VAR_012177 Q9H251:p.Val1675Ile SP substitution exon 1 VAR_012178 Q9H251:p.Arg1746Gln SP substitution exon 1 VAR_012179 Q9H251:p.Arg1804Gln SP substitution exon 1 VAR_012180 Q9H251:p.Thr1999Ser SP substitution exon 1 VAR_012181 Q9H251:p.Glu2044Lys SP substitution exon 1 VAR_012182 Q9H251:p.Asp2045Asn SP substitution exon 1 VAR_012183 Q9H251:p.Asp2202Asn SP substitution exon 1 VAR_012184 Q9H251:p.Arg2358Gln SP substitution exon 1 VAR_012185 Q9H251:p.Pro2380Leu SP substitution exon 1 VAR_012186 Q9H251:p.Glu2588Gln SP substitution exon 1 VAR_012187 Q9H251:p.Ile2950Asn SP substitution exon 1 VAR_012188 Q9H251:p.Arg2956Cys SP substitution exon 1 VAR_012189 Q9H251:p.Pro3059Thr SP substitution exon 1 VAR_012190 Q9H251:p.Phe3125Leu SP substitution exon 1 VAR_012191 O95905:p.Arg281Gly SP substitution exon 1 VAR_012192 Q9HCJ1:p.Trp292Arg SP substitution exon 1 VAR_012193 Q9HCJ1:p.Cys331Arg SP substitution exon 1 VAR_012198 Q9HCJ1:p.Gly389Arg SP substitution exon 1 VAR_012199 Q16568:p.Leu61Phe SP substitution exon 1 VAR_012200 Q16568:p.Ser66Thr SP substitution exon 1 VAR_012201 P01189:p.Arg236Gln SP substitution exon 1 VAR_012202 Q13326:p.Gly69Arg SP substitution exon 1 VAR_012203 Q12770:p.Val798Ile SP substitution exon 1 VAR_012205 P09210:p.Ser112Thr SP substitution exon 1 VAR_012206 P09210:p.Glu210Ala SP substitution exon 1 VAR_012227 Q13813:p.Ile1300Thr SP substitution exon 1 VAR_012228 O75469:p.Pro27Ser SP substitution exon 1 VAR_012229 O75469:p.Gly36Arg SP substitution exon 1 VAR_012230 O75469:p.Arg122Gln SP substitution exon 1 VAR_012231 Q8IWL2:p.Leu50Val SP substitution exon 1 VAR_012234 Q02223:p.Ala153Thr SP substitution exon 1 VAR_012235 Q9Y5N1:p.Ala280Val SP substitution exon 1 VAR_012236 O00592:p.Thr60Arg SP substitution exon 1 VAR_012237 O00592:p.Ser194Leu SP substitution exon 1 VAR_012238 P10632:p.Arg139Lys SP substitution exon 1 VAR_012239 P10632:p.Ile269Phe SP substitution exon 1 VAR_012240 P10632:p.Lys399Arg SP substitution exon 1 VAR_012241 P58418:p.Met120Lys SP substitution exon 1 VAR_012243 Q9UQF2:p.Ser59Asn SP substitution exon 1 VAR_012244 Q9H222:p.Glu146Gln SP substitution exon 1 VAR_012245 Q9H222:p.Arg389His SP substitution exon 1 VAR_012246 Q9H222:p.Arg419His SP substitution exon 1 VAR_012247 Q9H222:p.Arg419Pro SP substitution exon 1 VAR_012248 Q9H222:p.Arg550Ser SP substitution exon 1 VAR_012249 Q9H222:p.Gln604Glu SP substitution exon 1 VAR_012250 Q9H221:p.Asp19His SP substitution exon 1 VAR_012251 Q9H221:p.Tyr54Cys SP substitution exon 1 VAR_012252 Q9H221:p.Arg184His SP substitution exon 1 VAR_012253 Q9H221:p.Pro231Thr SP substitution exon 1 VAR_012254 Q9H221:p.Glu238Lys SP substitution exon 1 VAR_012255 Q9H221:p.Ala259Val SP substitution exon 1 VAR_012256 Q9H221:p.Arg263Gln SP substitution exon 1 VAR_012257 Q9H221:p.Thr400Lys SP substitution exon 1 VAR_012258 Q9H221:p.Arg405His SP substitution exon 1 VAR_012259 Q9H221:p.Leu501Pro SP substitution exon 1 VAR_012260 Q9H221:p.Arg543Ser SP substitution exon 1 VAR_012262 Q9H221:p.Leu572Pro SP substitution exon 1 VAR_012263 Q9H221:p.Gly574Glu SP substitution exon 1 VAR_012264 Q9H221:p.Gly574Arg SP substitution exon 1 VAR_012265 Q9H221:p.Gly575Arg SP substitution exon 1 VAR_012266 Q9H221:p.Leu596Arg SP substitution exon 1 VAR_012267 Q9H221:p.Val632Ala SP substitution exon 1 VAR_012268 P16452:p.Arg280Gln SP substitution exon 1 VAR_012269 P46019:p.Lys189Glu SP substitution exon 1 VAR_012271 P46019:p.Gly193Val SP substitution exon 1 VAR_012272 P46019:p.Arg295His SP substitution exon 1 VAR_012273 P46019:p.Pro399Ser SP substitution exon 1 VAR_012276 P46019:p.Glu1125Lys SP substitution exon 1 VAR_012277 P46019:p.Gly1207Trp SP substitution exon 1 VAR_012279 P45844:p.Phe668Leu SP substitution exon 1 VAR_012280 Q9NZW4:p.Pro17Thr SP substitution exon 1 VAR_012281 Q9NZW4:p.Val18Phe SP substitution exon 1 VAR_012282 Q9UNN8:p.Ser219Gly SP substitution exon 1 VAR_012283 P22309:p.Arg367Gly SP substitution exon 1 VAR_012284 P30411:p.Gly354Glu SP substitution exon 1 VAR_012285 Q02318:p.Arg395Ser SP substitution exon 1 VAR_012286 Q02318:p.Arg405Gln SP substitution exon 1 VAR_012287 Q02318:p.Arg474Gln SP substitution exon 1 VAR_012288 Q02318:p.Arg474Trp SP substitution exon 1 VAR_012289 P49770:p.Glu213Gly SP substitution exon 1 VAR_012290 P49770:p.Val316Asp SP substitution exon 1 VAR_012291 Q13144:p.Thr91Ala SP substitution exon 1 VAR_012292 Q13144:p.Arg113His SP substitution exon 1 VAR_012293 Q13144:p.Gly386Val SP substitution exon 1 VAR_012295 O15061:p.Ala272Val SP substitution exon 1 VAR_012296 O15061:p.Val330Ile SP substitution exon 1 VAR_012297 O15061:p.Arg338Trp SP substitution exon 1 VAR_012298 O15061:p.Pro567Leu SP substitution exon 1 VAR_012299 O15061:p.Glu612Ala SP substitution exon 1 VAR_012300 O15061:p.Pro761Leu SP substitution exon 1 VAR_012301 O15061:p.Arg946Trp SP substitution exon 1 VAR_012302 O15061:p.Gln976Arg SP substitution exon 1 VAR_012303 O15061:p.Pro1059Leu SP substitution exon 1 VAR_012304 O15061:p.Arg1067Pro SP substitution exon 1 VAR_012305 O15061:p.Ser1077Leu SP substitution exon 1 VAR_012306 O15061:p.Gly1386Glu SP substitution exon 1 VAR_012307 O15061:p.Phe1462Cys SP substitution exon 1 VAR_012308 O75923:p.Pro791Arg SP substitution exon 1 VAR_012309 O75923:p.Ile1298Val SP substitution exon 1 VAR_012310 O75923:p.His1857Arg SP substitution exon 1 VAR_012311 O75923:p.Arg2042Cys SP substitution exon 1 VAR_012313 P08034:p.Tyr65His SP substitution exon 1 VAR_012316 P01008:p.Tyr95Ser SP substitution exon 1 VAR_012317 P42771:p.Arg87Trp SP substitution exon 1 VAR_012318 P05452:p.Gly106Ser SP substitution exon 1 VAR_012321 P49770:p.Lys273Arg SP substitution exon 1 VAR_012322 P49770:p.Gly329Val SP substitution exon 1 VAR_012323 Q13144:p.Val73Gly SP substitution exon 1 VAR_012324 Q13144:p.Leu106Phe SP substitution exon 1 VAR_012325 Q13144:p.Arg299His SP substitution exon 1 VAR_012326 Q13144:p.Arg315Gly SP substitution exon 1 VAR_012327 Q13144:p.Arg315His SP substitution exon 1 VAR_012328 Q13144:p.Arg339Pro SP substitution exon 1 VAR_012329 Q13144:p.Arg339Gln SP substitution exon 1 VAR_012330 Q13144:p.Arg339Trp SP substitution exon 1 VAR_012331 Q13144:p.Val430Ala SP substitution exon 1 VAR_012334 P22557:p.Tyr199His SP substitution exon 1 VAR_012335 P22557:p.Arg204Gln SP substitution exon 1 VAR_012336 P22557:p.Arg448Gln SP substitution exon 1 VAR_012337 P22557:p.Arg452Cys SP substitution exon 1 VAR_012338 P34949:p.Ser102Leu SP substitution exon 1 VAR_012339 P34949:p.Met138Thr SP substitution exon 1 VAR_012340 P34949:p.Arg219Gln SP substitution exon 1 VAR_012341 O60762:p.Arg92Gly SP substitution exon 1 VAR_012342 P16662:p.His268Tyr SP substitution exon 1 VAR_012343 Q10469:p.Asn318Asp SP substitution exon 1 VAR_012344 O15305:p.Leu104Val SP substitution exon 1 VAR_012345 P34949:p.Ile140Thr SP substitution exon 1 VAR_012346 O15266:p.Arg173Cys SP substitution exon 1 VAR_012347 Q96A29:p.Arg147Cys SP substitution exon 1 VAR_012348 Q96A29:p.Thr308Arg SP substitution exon 1 VAR_012349 Q96DB9:p.Ser35Ala SP substitution exon 1 VAR_012350 P35557:p.Leu164Pro SP substitution exon 1 VAR_012351 P35557:p.Met210Lys SP substitution exon 1 VAR_012352 P35557:p.Ile110Thr SP substitution exon 1 VAR_012353 P35557:p.Ala119Asp SP substitution exon 1 VAR_012354 P35557:p.Gly385Val SP substitution exon 1 VAR_012355 Q96RE9:p.Gln336His SP substitution exon 1 VAR_012357 P31276:p.Ser50Ile SP substitution exon 1 VAR_012358 P0DI81:p.Asp47Tyr SP substitution exon 1 VAR_012359 P0DI81:p.Ser73Leu SP substitution exon 1 VAR_012360 P0DI81:p.Val130Asp SP substitution exon 1 VAR_012361 P0DI81:p.Phe83Ser SP substitution exon 1 VAR_012362 P06280:p.Ala20Pro SP substitution exon 1 VAR_012363 P06280:p.Ala31Val SP substitution exon 1 VAR_012364 P06280:p.Pro40Leu SP substitution exon 1 VAR_012365 P06280:p.Met42Val SP substitution exon 1 VAR_012367 P06280:p.His46Arg SP substitution exon 1 VAR_012368 P06280:p.His46Tyr SP substitution exon 1 VAR_012369 P06280:p.Trp47Gly SP substitution exon 1 VAR_012370 P06280:p.Arg49Pro SP substitution exon 1 VAR_012371 P06280:p.Arg49Ser SP substitution exon 1 VAR_012372 P06280:p.Cys56Tyr SP substitution exon 1 VAR_012373 P06280:p.Tyr86Cys SP substitution exon 1 VAR_012374 P06280:p.Leu89Pro SP substitution exon 1 VAR_012375 P06280:p.Ile91Thr SP substitution exon 1 VAR_012376 P06280:p.Asp92His SP substitution exon 1 VAR_012377 P06280:p.Asp92Tyr SP substitution exon 1 VAR_012378 P06280:p.Asp93Gly SP substitution exon 1 VAR_012379 P06280:p.Cys94Ser SP substitution exon 1 VAR_012380 P06280:p.Cys94Tyr SP substitution exon 1 VAR_012381 P06280:p.Trp95Ser SP substitution exon 1 VAR_012382 P06280:p.Ala97Val SP substitution exon 1 VAR_012383 P06280:p.Arg100Thr SP substitution exon 1 VAR_012384 P06280:p.Phe113Leu SP substitution exon 1 VAR_012385 P06280:p.Phe113Ser SP substitution exon 1 VAR_012386 P06280:p.Tyr134Ser SP substitution exon 1 VAR_012387 P06280:p.Gly138Arg SP substitution exon 1 VAR_012388 P06280:p.Cys142Arg SP substitution exon 1 VAR_012389 P06280:p.Ala143Thr SP substitution exon 1 VAR_012390 P06280:p.Ser148Asn SP substitution exon 1 VAR_012391 P06280:p.Ser148Arg SP substitution exon 1 VAR_012392 P06280:p.Trp162Cys SP substitution exon 1 VAR_012393 P06280:p.Gly163Val SP substitution exon 1 VAR_012394 P06280:p.Asp170Val SP substitution exon 1 VAR_012395 P06280:p.Cys172Arg SP substitution exon 1 VAR_012396 P06280:p.Gly183Asp SP substitution exon 1 VAR_012397 P06280:p.Met187Val SP substitution exon 1 VAR_012398 P06280:p.Cys202Tyr SP substitution exon 1 VAR_012400 P06280:p.Tyr216Asp SP substitution exon 1 VAR_012401 P06280:p.Cys223Gly SP substitution exon 1 VAR_012402 P06280:p.Asn224Ser SP substitution exon 1 VAR_012403 P06280:p.Trp226Arg SP substitution exon 1 VAR_012404 P06280:p.Ala230Thr SP substitution exon 1 VAR_012405 P06280:p.Ser235Cys SP substitution exon 1 VAR_012406 P06280:p.Trp236Cys SP substitution exon 1 VAR_012407 P06280:p.Trp236Leu SP substitution exon 1 VAR_012408 P06280:p.Ile242Asn SP substitution exon 1 VAR_012409 P06280:p.Asp244His SP substitution exon 1 VAR_012410 P06280:p.Gly258Arg SP substitution exon 1 VAR_012411 P06280:p.Pro259Leu SP substitution exon 1 VAR_012412 P06280:p.Pro259Arg SP substitution exon 1 VAR_012413 P06280:p.Gly260Ala SP substitution exon 1 VAR_012414 P06280:p.Gly261Asp SP substitution exon 1 VAR_012415 P06280:p.Asn263Ser SP substitution exon 1 VAR_012416 P06280:p.Pro265Arg SP substitution exon 1 VAR_012418 P06280:p.Asp266Asn SP substitution exon 1 VAR_012419 P06280:p.Met267Ile SP substitution exon 1 VAR_012420 P06280:p.Gln279His SP substitution exon 1 VAR_012421 P06280:p.Gln280His SP substitution exon 1 VAR_012422 P06280:p.Trp287Cys SP substitution exon 1 VAR_012423 P06280:p.Trp287Gly SP substitution exon 1 VAR_012424 P06280:p.Ile289Phe SP substitution exon 1 VAR_012425 P06280:p.Met296Ile SP substitution exon 1 VAR_012426 P06280:p.Asn298His SP substitution exon 1 VAR_012427 P06280:p.Asn298Ser SP substitution exon 1 VAR_012430 P06280:p.Asn320Lys SP substitution exon 1 VAR_012431 P06280:p.Asn320Tyr SP substitution exon 1 VAR_012432 P06280:p.Gln321Glu SP substitution exon 1 VAR_012433 P06280:p.Trp340Arg SP substitution exon 1 VAR_012434 P06280:p.Glu341Lys SP substitution exon 1 VAR_012435 P06280:p.Arg363His SP substitution exon 1 VAR_012436 P06280:p.Gly373Asp SP substitution exon 1 VAR_012437 P06280:p.Gly373Ser SP substitution exon 1 VAR_012438 P06280:p.Ala377Asp SP substitution exon 1 VAR_012439 P06280:p.Cys378Tyr SP substitution exon 1 VAR_012440 P06280:p.Pro409Ala SP substitution exon 1 VAR_012441 P06280:p.Pro409Thr SP substitution exon 1 VAR_012443 Q02962:p.Ala334Val SP substitution exon 1 VAR_012444 Q15582:p.Arg124Ser SP substitution exon 1 VAR_012451 P09758:p.Asp173Ala SP substitution exon 1 VAR_012452 P98161:p.Ala88Val SP substitution exon 1 VAR_012453 P98161:p.Trp967Arg SP substitution exon 1 VAR_012454 P98161:p.Arg2392Pro SP substitution exon 1 VAR_012455 P98161:p.Ser2423Phe SP substitution exon 1 VAR_012456 P98161:p.Pro2471Leu SP substitution exon 1 VAR_012457 P98161:p.Gln2519Leu SP substitution exon 1 VAR_012458 P98161:p.Glu2548Gln SP substitution exon 1 VAR_012460 P98161:p.Thr2582Met SP substitution exon 1 VAR_012462 P98161:p.His2638Arg SP substitution exon 1 VAR_012463 P98161:p.Thr2649Ile SP substitution exon 1 VAR_012464 P98161:p.Leu2696Arg SP substitution exon 1 VAR_012465 P98161:p.Asp2972Asn SP substitution exon 1 VAR_012467 P98161:p.Arg2985Gly SP substitution exon 1 VAR_012468 P98161:p.Arg3039Cys SP substitution exon 1 VAR_012469 P98161:p.Val3285Ile SP substitution exon 1 VAR_012470 P98161:p.His3311Arg SP substitution exon 1 VAR_012471 P98161:p.Gly3560Arg SP substitution exon 1 VAR_012476 P14598:p.Arg42Gln SP substitution exon 1 VAR_012477 P14598:p.Thr160Ser SP substitution exon 1 VAR_012478 P14598:p.Asn166Asp SP substitution exon 1 VAR_012479 P14598:p.Gly262Ser SP substitution exon 1 VAR_012480 P14598:p.Ala308Val SP substitution exon 1 VAR_012481 P51681:p.Cys178Arg SP substitution exon 1 VAR_012482 O43291:p.Val200Leu SP substitution exon 1 VAR_012483 P20823:p.Gly20Arg SP substitution exon 1 VAR_012484 P20823:p.Arg203His SP substitution exon 1 VAR_012485 P20823:p.Ser432Cys SP substitution exon 1 VAR_012487 Q13562:p.Arg111Leu SP substitution exon 1 VAR_012488 P56159:p.Tyr85Asn SP substitution exon 1 VAR_012489 P56159:p.Thr366Ala SP substitution exon 1 VAR_012490 P48509:p.Lys132Arg SP substitution exon 1 VAR_012491 P48509:p.Pro137Ser SP substitution exon 1 VAR_012492 Q9GZR5:p.Met299Val SP substitution exon 1 VAR_012493 P78363:p.Leu11Pro SP substitution exon 1 VAR_012495 P78363:p.Asn58Lys SP substitution exon 1 VAR_012496 P78363:p.Ala60Glu SP substitution exon 1 VAR_012497 P78363:p.Ala60Thr SP substitution exon 1 VAR_012498 P78363:p.Pro68Leu SP substitution exon 1 VAR_012499 P78363:p.Pro68Arg SP substitution exon 1 VAR_012500 P78363:p.Gly72Arg SP substitution exon 1 VAR_012501 P78363:p.Val77Glu SP substitution exon 1 VAR_012502 P78363:p.Ser100Pro SP substitution exon 1 VAR_012503 P78363:p.Arg152Gln SP substitution exon 1 VAR_012504 P78363:p.Ile156Val SP substitution exon 1 VAR_012505 P78363:p.Gln190His SP substitution exon 1 VAR_012506 P78363:p.Ser206Arg SP substitution exon 1 VAR_012507 P78363:p.Arg212His SP substitution exon 1 VAR_012508 P78363:p.Arg220Cys SP substitution exon 1 VAR_012509 P78363:p.Cys230Ser SP substitution exon 1 VAR_012510 P78363:p.Leu244Pro SP substitution exon 1 VAR_012511 P78363:p.Asn247Ser SP substitution exon 1 VAR_012512 P78363:p.Pro309Arg SP substitution exon 1 VAR_012513 P78363:p.Glu328Val SP substitution exon 1 VAR_012514 P78363:p.Arg333Trp SP substitution exon 1 VAR_012515 P78363:p.Trp339Gly SP substitution exon 1 VAR_012516 P78363:p.Asn380Lys SP substitution exon 1 VAR_012517 P78363:p.His423Arg SP substitution exon 1 VAR_012518 P78363:p.Phe525Cys SP substitution exon 1 VAR_012519 P78363:p.Arg537Cys SP substitution exon 1 VAR_012520 P78363:p.Ala549Pro SP substitution exon 1 VAR_012521 P78363:p.Gly550Arg SP substitution exon 1 VAR_012522 P78363:p.Val552Ile SP substitution exon 1 VAR_012523 P78363:p.Arg602Gln SP substitution exon 1 VAR_012524 P78363:p.Gly607Arg SP substitution exon 1 VAR_012525 P78363:p.Gly607Trp SP substitution exon 1 VAR_012526 P78363:p.Gln635Lys SP substitution exon 1 VAR_012527 P78363:p.Gln636His SP substitution exon 1 VAR_012528 P78363:p.Val643Met SP substitution exon 1 VAR_012529 P78363:p.Arg653Cys SP substitution exon 1 VAR_012530 P78363:p.Leu686Ser SP substitution exon 1 VAR_012531 P78363:p.Thr716Met SP substitution exon 1 VAR_012532 P78363:p.Cys764Tyr SP substitution exon 1 VAR_012533 P78363:p.Ser765Arg SP substitution exon 1 VAR_012534 P78363:p.Ser765Asn SP substitution exon 1 VAR_012535 P78363:p.Val767Asp SP substitution exon 1 VAR_012536 P78363:p.Leu797Pro SP substitution exon 1 VAR_012537 P78363:p.Ile824Thr SP substitution exon 1 VAR_012538 P78363:p.Val849Ala SP substitution exon 1 VAR_012539 P78363:p.Ala854Thr SP substitution exon 1 VAR_012541 P78363:p.Phe873Leu SP substitution exon 1 VAR_012542 P78363:p.Thr897Ile SP substitution exon 1 VAR_012543 P78363:p.His914Arg SP substitution exon 1 VAR_012544 P78363:p.Val935Ala SP substitution exon 1 VAR_012545 P78363:p.Arg943Trp SP substitution exon 1 VAR_012546 P78363:p.Thr959Ile SP substitution exon 1 VAR_012547 P78363:p.Thr971Asn SP substitution exon 1 VAR_012548 P78363:p.Thr972Asn SP substitution exon 1 VAR_012549 P78363:p.Ser974Pro SP substitution exon 1 VAR_012550 P78363:p.Val989Ala SP substitution exon 1 VAR_012551 P78363:p.Gly991Arg SP substitution exon 1 VAR_012552 P78363:p.Leu1014Arg SP substitution exon 1 VAR_012553 P78363:p.Thr1019Ala SP substitution exon 1 VAR_012554 P78363:p.Thr1019Met SP substitution exon 1 VAR_012555 P78363:p.Glu1022Lys SP substitution exon 1 VAR_012556 P78363:p.Lys1031Glu SP substitution exon 1 VAR_012557 P78363:p.Arg1055Trp SP substitution exon 1 VAR_012558 P78363:p.Ser1063Pro SP substitution exon 1 VAR_012559 P78363:p.Glu1087Asp SP substitution exon 1 VAR_012560 P78363:p.Gly1091Glu SP substitution exon 1 VAR_012561 P78363:p.Arg1097Cys SP substitution exon 1 VAR_012562 P78363:p.Arg1108Cys SP substitution exon 1 VAR_012563 P78363:p.Arg1108His SP substitution exon 1 VAR_012564 P78363:p.Arg1108Leu SP substitution exon 1 VAR_012565 P78363:p.Arg1129Cys SP substitution exon 1 VAR_012566 P78363:p.Lys1148Thr SP substitution exon 1 VAR_012567 P78363:p.Leu1250Pro SP substitution exon 1 VAR_012568 P78363:p.Thr1253Met SP substitution exon 1 VAR_012569 P78363:p.Arg1300Gln SP substitution exon 1 VAR_012570 P78363:p.Leu1388Pro SP substitution exon 1 VAR_012571 P78363:p.Glu1399Lys SP substitution exon 1 VAR_012572 P78363:p.Leu1430Pro SP substitution exon 1 VAR_012573 P78363:p.Phe1440Val SP substitution exon 1 VAR_012574 P78363:p.Arg1443His SP substitution exon 1 VAR_012575 P78363:p.Cys1488Phe SP substitution exon 1 VAR_012576 P78363:p.Cys1488Tyr SP substitution exon 1 VAR_012577 P78363:p.Gly1508Cys SP substitution exon 1 VAR_012578 P78363:p.Gln1513Arg SP substitution exon 1 VAR_012579 P78363:p.Leu1525Pro SP substitution exon 1 VAR_012580 P78363:p.Thr1537Met SP substitution exon 1 VAR_012581 P78363:p.Ala1598Asp SP substitution exon 1 VAR_012582 P78363:p.Ala1637Thr SP substitution exon 1 VAR_012583 P78363:p.Arg1640Gln SP substitution exon 1 VAR_012585 P78363:p.Ser1689Pro SP substitution exon 1 VAR_012586 P78363:p.Val1693Ile SP substitution exon 1 VAR_012587 P78363:p.Arg1705Leu SP substitution exon 1 VAR_012588 P78363:p.Met1733Thr SP substitution exon 1 VAR_012589 P78363:p.Ser1736Pro SP substitution exon 1 VAR_012590 P78363:p.Gly1748Arg SP substitution exon 1 VAR_012592 P78363:p.Leu1763Pro SP substitution exon 1 VAR_012593 P78363:p.Pro1776Leu SP substitution exon 1 VAR_012594 P78363:p.Pro1780Ala SP substitution exon 1 VAR_012595 P78363:p.Asn1799Asp SP substitution exon 1 VAR_012596 P78363:p.Asn1805Asp SP substitution exon 1 VAR_012597 P78363:p.Glu1817Asp SP substitution exon 1 VAR_012598 P78363:p.Val1884Glu SP substitution exon 1 VAR_012599 P78363:p.Glu1885Lys SP substitution exon 1 VAR_012600 P78363:p.Val1896Asp SP substitution exon 1 VAR_012601 P78363:p.Val1921Met SP substitution exon 1 VAR_012602 P78363:p.Leu1940Pro SP substitution exon 1 VAR_012603 P78363:p.Leu1971Arg SP substitution exon 1 VAR_012604 P78363:p.Gly1975Arg SP substitution exon 1 VAR_012605 P78363:p.Leu2035Pro SP substitution exon 1 VAR_012606 P78363:p.Gly2059Ala SP substitution exon 1 VAR_012607 P78363:p.Leu2060Arg SP substitution exon 1 VAR_012608 P78363:p.Tyr2071Phe SP substitution exon 1 VAR_012609 P78363:p.Arg2077Gly SP substitution exon 1 VAR_012610 P78363:p.Arg2107Cys SP substitution exon 1 VAR_012611 P78363:p.Gly2146Asp SP substitution exon 1 VAR_012612 P78363:p.Arg2149Leu SP substitution exon 1 VAR_012613 P78363:p.Cys2150Arg SP substitution exon 1 VAR_012614 P78363:p.Ala2216Val SP substitution exon 1 VAR_012615 P78363:p.Leu2229Pro SP substitution exon 1 VAR_012616 P78363:p.Leu2241Val SP substitution exon 1 VAR_012617 P78363:p.Arg2263Leu SP substitution exon 1 VAR_012618 O95477:p.Arg219Lys SP substitution exon 1 VAR_012619 O95477:p.Arg230Cys SP substitution exon 1 VAR_012620 O95477:p.Ala255Thr SP substitution exon 1 VAR_012621 O95477:p.Val771Met SP substitution exon 1 VAR_012622 O95477:p.Thr774Pro SP substitution exon 1 VAR_012623 O95477:p.Lys776Asn SP substitution exon 1 VAR_012624 O95477:p.Val825Ile SP substitution exon 1 VAR_012625 O95477:p.Ile883Met SP substitution exon 1 VAR_012626 O95477:p.Thr929Ile SP substitution exon 1 VAR_012627 O95477:p.Ala1046Asp SP substitution exon 1 VAR_012628 O95477:p.Met1091Thr SP substitution exon 1 VAR_012629 O95477:p.Glu1172Asp SP substitution exon 1 VAR_012630 O95477:p.Ser1506Leu SP substitution exon 1 VAR_012631 O95477:p.Lys1587Arg SP substitution exon 1 VAR_012632 O95477:p.Asn1611Asp SP substitution exon 1 VAR_012633 O95477:p.Ser1731Cys SP substitution exon 1 VAR_012635 O95477:p.Arg2081Trp SP substitution exon 1 VAR_012636 O95477:p.Pro2150Leu SP substitution exon 1 VAR_012637 O95477:p.Leu2168Pro SP substitution exon 1 VAR_012638 O95477:p.Ile1555Thr SP substitution exon 1 VAR_012639 O95477:p.Leu1648Pro SP substitution exon 1 VAR_012640 O75027:p.Glu433Lys SP substitution exon 1 VAR_012642 P07358:p.Arg117Gly SP substitution exon 1 VAR_012643 P10643:p.Arg220Gln SP substitution exon 1 VAR_012644 P10643:p.Gly379Arg SP substitution exon 1 VAR_012645 P10643:p.Arg521Ser SP substitution exon 1 VAR_012646 P10643:p.Glu682Gln SP substitution exon 1 VAR_012647 P10643:p.Arg687His SP substitution exon 1 VAR_012648 P02748:p.Cys119Gly SP substitution exon 1 VAR_012649 P41180:p.Gly557Glu SP substitution exon 1 VAR_012651 P00480:p.Ile160Ser SP substitution exon 1 VAR_012652 P00480:p.Leu191Phe SP substitution exon 1 VAR_012653 P00480:p.Met206Ile SP substitution exon 1 VAR_012654 P00480:p.Leu301Phe SP substitution exon 1 VAR_012655 P00480:p.Pro305His SP substitution exon 1 VAR_012656 P00480:p.Thr333Ala SP substitution exon 1 VAR_012657 P00480:p.Leu341Pro SP substitution exon 1 VAR_012658 Q14055:p.Gln326Trp SP substitution exon 1 VAR_012659 Q14055:p.Gln326Arg SP substitution exon 1 VAR_012662 P69905:p.Ala80Gly SP substitution exon 1 VAR_012663 P68871:p.Leu82His SP substitution exon 1 VAR_012664 P68871:p.Lys83Asn SP substitution exon 1 VAR_012665 Q9HC29:p.Ala140Thr SP substitution exon 1 VAR_012666 Q9HC29:p.Trp157Arg SP substitution exon 1 VAR_012667 Q9HC29:p.Thr189Met SP substitution exon 1 VAR_012668 Q9HC29:p.Arg235Cys SP substitution exon 1 VAR_012669 Q9HC29:p.Leu248Arg SP substitution exon 1 VAR_012670 Q9HC29:p.Pro268Ser SP substitution exon 1 VAR_012671 Q9HC29:p.Asn289Ser SP substitution exon 1 VAR_012672 Q9HC29:p.Asp291Asn SP substitution exon 1 VAR_012673 Q9HC29:p.Thr294Ser SP substitution exon 1 VAR_012674 Q9HC29:p.Ala301Val SP substitution exon 1 VAR_012675 Q9HC29:p.Arg311Trp SP substitution exon 1 VAR_012676 Q9HC29:p.Arg334Gln SP substitution exon 1 VAR_012677 Q9HC29:p.Arg334Trp SP substitution exon 1 VAR_012678 Q9HC29:p.Leu348Val SP substitution exon 1 VAR_012679 Q9HC29:p.His352Arg SP substitution exon 1 VAR_012680 Q9HC29:p.Arg373Cys SP substitution exon 1 VAR_012681 Q9HC29:p.Asn414Ser SP substitution exon 1 VAR_012682 Q9HC29:p.Ser431Leu SP substitution exon 1 VAR_012683 Q9HC29:p.Ala432Val SP substitution exon 1 VAR_012684 Q9HC29:p.Glu441Lys SP substitution exon 1 VAR_012685 Q9HC29:p.Leu469Phe SP substitution exon 1 VAR_012686 Q9HC29:p.Ala612Thr SP substitution exon 1 VAR_012687 Q9HC29:p.Ala612Val SP substitution exon 1 VAR_012688 Q9HC29:p.Arg684Trp SP substitution exon 1 VAR_012689 Q9HC29:p.Arg702Trp SP substitution exon 1 VAR_012690 Q9HC29:p.Arg703Cys SP substitution exon 1 VAR_012691 Q9HC29:p.Arg713Cys SP substitution exon 1 VAR_012692 Q9HC29:p.Ala725Gly SP substitution exon 1 VAR_012693 Q9HC29:p.Ala755Val SP substitution exon 1 VAR_012694 Q9HC29:p.Ala758Val SP substitution exon 1 VAR_012695 Q9HC29:p.Glu778Lys SP substitution exon 1 VAR_012696 Q9HC29:p.Val793Met SP substitution exon 1 VAR_012706 P15976:p.Gly208Ser SP substitution exon 1 VAR_012707 P15976:p.Asp218Gly SP substitution exon 1 VAR_012708 P61812:p.Arg91His SP substitution exon 1 VAR_012710 P42768:p.Gln52His SP substitution exon 1 VAR_012711 P42768:p.Gly70Trp SP substitution exon 1 VAR_012712 P07477:p.Asn29Thr SP substitution exon 1 VAR_012713 P07477:p.Arg122Cys SP substitution exon 1 VAR_012714 P17787:p.Val287Leu SP substitution exon 1 VAR_012715 P17787:p.Val287Met SP substitution exon 1 VAR_012716 O76062:p.Thr299Ile SP substitution exon 1 VAR_012717 Q9UBM7:p.Pro51Ser SP substitution exon 1 VAR_012718 Q9UBM7:p.Thr93Met SP substitution exon 1 VAR_012719 Q9UBM7:p.Leu99Pro SP substitution exon 1 VAR_012720 Q9UBM7:p.His119Leu SP substitution exon 1 VAR_012721 Q9UBM7:p.Leu157Pro SP substitution exon 1 VAR_012722 Q9UBM7:p.Gly244Arg SP substitution exon 1 VAR_012723 Q9UBM7:p.Ala247Val SP substitution exon 1 VAR_012724 Q9UBM7:p.Trp248Cys SP substitution exon 1 VAR_012725 Q9UBM7:p.Thr289Ile SP substitution exon 1 VAR_012726 Q9UBM7:p.Val326Leu SP substitution exon 1 VAR_012727 Q9UBM7:p.Arg352Trp SP substitution exon 1 VAR_012728 Q9UBM7:p.Cys380Ser SP substitution exon 1 VAR_012729 Q9UBM7:p.Arg404Cys SP substitution exon 1 VAR_012730 Q9UBM7:p.Gly410Ser SP substitution exon 1 VAR_012731 Q15049:p.Leu309Met SP substitution exon 1 VAR_012732 Q15392:p.Glu191Lys SP substitution exon 1 VAR_012733 Q15392:p.Asn294Thr SP substitution exon 1 VAR_012734 Q15392:p.Lys306Asn SP substitution exon 1 VAR_012735 Q15392:p.Tyr471Ser SP substitution exon 1 VAR_012737 P02786:p.Gly142Ser SP substitution exon 1 VAR_012738 Q9UP52:p.Met172Lys SP substitution exon 1 VAR_012739 O00206:p.Asp299Gly SP substitution exon 1 VAR_012740 O00206:p.Thr399Ile SP substitution exon 1 VAR_012741 Q9UNK4:p.Ser80Gly SP substitution exon 1 VAR_012742 P23352:p.Glu514Lys SP substitution exon 1 VAR_012743 P07949:p.Ala639Gly SP substitution exon 1 VAR_012744 P07949:p.Ala641Gly SP substitution exon 1 VAR_012745 P07949:p.Ser922Phe SP substitution exon 1 VAR_012746 O75360:p.Arg73His SP substitution exon 1 VAR_012748 P01008:p.Leu23Pro SP substitution exon 1 VAR_012750 P01008:p.Asn167Thr SP substitution exon 1 VAR_012751 P39086:p.Ala332Val SP substitution exon 1 VAR_012752 P39086:p.Arg862Gln SP substitution exon 1 VAR_012753 O60938:p.Thr215Lys SP substitution exon 1 VAR_012754 O60938:p.Asn247Ser SP substitution exon 1 VAR_012755 P13498:p.Gly24Arg SP substitution exon 1 VAR_012756 Q9BZJ4:p.Phe247Leu SP substitution exon 1 VAR_012757 Q9Y619:p.Gly27Glu SP substitution exon 1 VAR_012758 Q9Y619:p.Gly27Arg SP substitution exon 1 VAR_012759 Q9Y619:p.Pro126Arg SP substitution exon 1 VAR_012760 Q9Y619:p.Glu180Lys SP substitution exon 1 VAR_012762 Q9Y619:p.Gly190Asp SP substitution exon 1 VAR_012765 O96007:p.Glu168Lys SP substitution exon 1 VAR_012766 Q14749:p.Leu50Pro SP substitution exon 1 VAR_012767 Q14749:p.His177Asn SP substitution exon 1 VAR_012768 Q99592:p.Glu132Gly SP substitution exon 1 VAR_012769 Q06710:p.Arg31His SP substitution exon 1 VAR_012770 Q06710:p.Gln40Pro SP substitution exon 1 VAR_012771 Q06710:p.Cys57Tyr SP substitution exon 1 VAR_012772 Q06710:p.Leu62Arg SP substitution exon 1 VAR_012774 P49917:p.Arg278His SP substitution exon 1 VAR_012775 P49917:p.Gly469Glu SP substitution exon 1 VAR_012776 Q9BXS9:p.Val206Met SP substitution exon 1 VAR_012777 P40879:p.Ser206Pro SP substitution exon 1 VAR_012778 P40879:p.Asp468Val SP substitution exon 1 VAR_012779 Q9NZ08:p.Arg127Pro SP substitution exon 1 VAR_012780 Q9NZ08:p.Ile276Met SP substitution exon 1 VAR_012781 Q9NZ08:p.Gly346Asp SP substitution exon 1 VAR_012782 Q9NZ08:p.Met349Val SP substitution exon 1 VAR_012783 Q9NZ08:p.Lys528Arg SP substitution exon 1 VAR_012784 Q9NZ08:p.Gln730Glu SP substitution exon 1 VAR_012785 Q96RQ3:p.Ala289Val SP substitution exon 1 VAR_012786 Q96RQ3:p.Met325Arg SP substitution exon 1 VAR_012787 Q96RQ3:p.Arg385Ser SP substitution exon 1 VAR_012788 Q96RQ3:p.Leu437Pro SP substitution exon 1 VAR_012789 Q96RQ3:p.His464Pro SP substitution exon 1 VAR_012790 Q96RQ3:p.Asp532His SP substitution exon 1 VAR_012791 Q96RQ3:p.Ser535Phe SP substitution exon 1 VAR_012792 Q9HCC0:p.Glu99Gln SP substitution exon 1 VAR_012793 Q9HCC0:p.Arg155Gln SP substitution exon 1 VAR_012794 Q9HCC0:p.Cys167Arg SP substitution exon 1 VAR_012795 Q9HCC0:p.Ser173Leu SP substitution exon 1 VAR_012796 Q9HCC0:p.Arg193Cys SP substitution exon 1 VAR_012797 Q9HCC0:p.Ala218Thr SP substitution exon 1 VAR_012798 Q9HCC0:p.Arg268Thr SP substitution exon 1 VAR_012799 Q9HCC0:p.Pro310Arg SP substitution exon 1 VAR_012800 Q9HCC0:p.Val339Met SP substitution exon 1 VAR_012801 Q9HCC0:p.Ile437Val SP substitution exon 1 VAR_012802 P15382:p.Val109Ile SP substitution exon 1 VAR_012803 Q96RL7:p.Ser1452Pro SP substitution exon 1 VAR_012804 Q9NRG9:p.Gln15Lys SP substitution exon 1 VAR_012805 Q9NRG9:p.His160Arg SP substitution exon 1 VAR_012806 Q9NRG9:p.Ser263Pro SP substitution exon 1 VAR_012807 Q9UHF7:p.Val894Asp SP substitution exon 1 VAR_012808 Q9UHF7:p.Thr901Pro SP substitution exon 1 VAR_012809 Q9UHF7:p.Arg908Pro SP substitution exon 1 VAR_012810 Q9UHF7:p.Arg908Gln SP substitution exon 1 VAR_012811 Q9UHF7:p.Ala919Thr SP substitution exon 1 VAR_012812 Q9UIQ6:p.Ala763Thr SP substitution exon 1 VAR_012813 O95672:p.His10Gln SP substitution exon 1 VAR_012814 O95672:p.His328Tyr SP substitution exon 1 VAR_012815 Q16394:p.Gln27Lys SP substitution exon 1 VAR_012816 Q16394:p.Asp164His SP substitution exon 1 VAR_012820 Q16394:p.Asn316Ser SP substitution exon 1 VAR_012821 Q16394:p.Ala486Val SP substitution exon 1 VAR_012822 Q16394:p.Pro496Leu SP substitution exon 1 VAR_012823 Q93063:p.Cys85Arg SP substitution exon 1 VAR_012824 Q93063:p.Leu152Arg SP substitution exon 1 VAR_012825 Q93063:p.Arg179Ser SP substitution exon 1 VAR_012826 Q93063:p.Ala202Val SP substitution exon 1 VAR_012827 Q93063:p.Arg223Pro SP substitution exon 1 VAR_012828 Q93063:p.Ile380Thr SP substitution exon 1 VAR_012829 Q93063:p.Glu576Lys SP substitution exon 1 VAR_012830 Q92935:p.His379Asn SP substitution exon 1 VAR_012831 P21333:p.Val320Ala SP substitution exon 1 VAR_012832 P21333:p.Phe370Leu SP substitution exon 1 VAR_012833 P21333:p.Val552Ala SP substitution exon 1 VAR_012834 P21333:p.Leu656Phe SP substitution exon 1 VAR_012835 P21333:p.Ala1764Thr SP substitution exon 1 VAR_012836 Q9UBK8:p.Ile49Met SP substitution exon 1 VAR_012838 Q9UBK8:p.Val83Met SP substitution exon 1 VAR_012839 Q9UBK8:p.Ala156Thr SP substitution exon 1 VAR_012840 Q9UBK8:p.Leu360Val SP substitution exon 1 VAR_012841 Q9UBK8:p.Cys432Arg SP substitution exon 1 VAR_012842 Q9UBK8:p.Gly514Arg SP substitution exon 1 VAR_012844 Q9BZW5:p.Ile17Thr SP substitution exon 1 VAR_012846 P55085:p.Ser21Phe SP substitution exon 1 VAR_012847 P55085:p.Arg270Gln SP substitution exon 1 VAR_012848 P55085:p.Thr291Ala SP substitution exon 1 VAR_012849 O00254:p.Leu15Ser SP substitution exon 1 VAR_012850 O00254:p.Met177Val SP substitution exon 1 VAR_012851 O00254:p.Asn250Asp SP substitution exon 1 VAR_012852 Q96RI0:p.Phe296Val SP substitution exon 1 VAR_012853 Q96RI0:p.Pro310Leu SP substitution exon 1 VAR_012855 P08779:p.Gln122Pro SP substitution exon 1 VAR_012856 P08779:p.Arg127Pro SP substitution exon 1 VAR_012857 P68032:p.Glu101Lys SP substitution exon 1 VAR_012858 P68032:p.Pro166Ala SP substitution exon 1 VAR_012859 P68032:p.Ala297Ser SP substitution exon 1 VAR_012860 P68032:p.Arg314His SP substitution exon 1 VAR_012861 P68032:p.Ala333Pro SP substitution exon 1 VAR_012862 P68032:p.Glu363Gly SP substitution exon 1 VAR_012863 Q9GZL7:p.Met72Val SP substitution exon 1 VAR_012864 Q9GZL7:p.Tyr89Cys SP substitution exon 1 VAR_012865 Q9GZL7:p.Glu286Gly SP substitution exon 1 VAR_012871 Q9UM47:p.Cys49Tyr SP substitution exon 1 VAR_012872 Q9UM47:p.Trp71Cys SP substitution exon 1 VAR_012873 Q9UM47:p.Arg90Cys SP substitution exon 1 VAR_012874 Q9UM47:p.Arg110Cys SP substitution exon 1 VAR_012876 Q9UM47:p.Arg133Cys SP substitution exon 1 VAR_012877 Q9UM47:p.Arg141Cys SP substitution exon 1 VAR_012878 Q9UM47:p.Cys146Arg SP substitution exon 1 VAR_012879 Q9UM47:p.Arg153Cys SP substitution exon 1 VAR_012880 Q9UM47:p.Arg169Cys SP substitution exon 1 VAR_012881 Q9UM47:p.His170Arg SP substitution exon 1 VAR_012882 Q9UM47:p.Gly171Cys SP substitution exon 1 VAR_012883 Q9UM47:p.Arg182Cys SP substitution exon 1 VAR_012884 Q9UM47:p.Cys185Arg SP substitution exon 1 VAR_012885 Q9UM47:p.Cys212Ser SP substitution exon 1 VAR_012886 Q9UM47:p.Cys222Gly SP substitution exon 1 VAR_012887 Q9UM47:p.Cys224Tyr SP substitution exon 1 VAR_012888 Q9UM47:p.Tyr258Cys SP substitution exon 1 VAR_012889 Q9UM47:p.Pro496Leu SP substitution exon 1 VAR_012890 Q9UM47:p.Cys542Tyr SP substitution exon 1 VAR_012891 Q9UM47:p.Arg558Cys SP substitution exon 1 VAR_012892 Q9UM47:p.Arg578Cys SP substitution exon 1 VAR_012893 Q9UM47:p.Arg728Cys SP substitution exon 1 VAR_012894 Q9UM47:p.Arg985Cys SP substitution exon 1 VAR_012895 Q9UM47:p.Arg1006Cys SP substitution exon 1 VAR_012896 Q9UM47:p.Arg1031Cys SP substitution exon 1 VAR_012897 Q9UM47:p.His1133Gln SP substitution exon 1 VAR_012898 Q9UM47:p.Val1183Met SP substitution exon 1 VAR_012899 Q9UM47:p.Arg1231Cys SP substitution exon 1 VAR_012900 Q9UM47:p.Cys1261Arg SP substitution exon 1 VAR_012902 P40692:p.Gly54Glu SP substitution exon 1 VAR_012903 P40692:p.Gly67Trp SP substitution exon 1 VAR_012904 P40692:p.Cys77Tyr SP substitution exon 1 VAR_012905 P40692:p.Phe80Val SP substitution exon 1 VAR_012906 P40692:p.Lys84Glu SP substitution exon 1 VAR_012907 P40692:p.Ala111Val SP substitution exon 1 VAR_012908 P40692:p.Ala128Pro SP substitution exon 1 VAR_012909 P40692:p.Arg182Gly SP substitution exon 1 VAR_012910 P40692:p.Val213Met SP substitution exon 1 VAR_012911 P40692:p.Gly244Asp SP substitution exon 1 VAR_012912 P40692:p.Gly244Val SP substitution exon 1 VAR_012914 P40692:p.Arg265His SP substitution exon 1 VAR_012915 P40692:p.Glu268Gly SP substitution exon 1 VAR_012916 P40692:p.Ser295Thr SP substitution exon 1 VAR_012917 P40692:p.Arg325Gln SP substitution exon 1 VAR_012918 P40692:p.His329Pro SP substitution exon 1 VAR_012919 P40692:p.Ser406Asn SP substitution exon 1 VAR_012920 P40692:p.Ala441Thr SP substitution exon 1 VAR_012921 P40692:p.Leu549Pro SP substitution exon 1 VAR_012922 P40692:p.Asn551Thr SP substitution exon 1 VAR_012923 P40692:p.Ile565Phe SP substitution exon 1 VAR_012924 P40692:p.Leu588Pro SP substitution exon 1 VAR_012925 P40692:p.Pro603Arg SP substitution exon 1 VAR_012926 P40692:p.Leu607His SP substitution exon 1 VAR_012927 P40692:p.Leu622His SP substitution exon 1 VAR_012928 P40692:p.Pro648Leu SP substitution exon 1 VAR_012929 P40692:p.Arg659Leu SP substitution exon 1 VAR_012930 P40692:p.Thr662Pro SP substitution exon 1 VAR_012931 P40692:p.Arg687Trp SP substitution exon 1 VAR_012936 P43246:p.Val161Asp SP substitution exon 1 VAR_012937 P43246:p.Cys199Arg SP substitution exon 1 VAR_012938 P43246:p.Ile216Val SP substitution exon 1 VAR_012939 P43246:p.Ser323Cys SP substitution exon 1 VAR_012940 P43246:p.Gln419Lys SP substitution exon 1 VAR_012941 P43246:p.Asp506Tyr SP substitution exon 1 VAR_012942 P43246:p.Ser554Arg SP substitution exon 1 VAR_012943 P43246:p.Asn596Ser SP substitution exon 1 VAR_012944 P43246:p.Ala636Pro SP substitution exon 1 VAR_012945 P43246:p.Met688Ile SP substitution exon 1 VAR_012946 Q9UHC1:p.Gln24Glu SP substitution exon 1 VAR_012947 Q9UHC1:p.Asn499Ser SP substitution exon 1 VAR_012948 Q9UHC1:p.Glu624Gln SP substitution exon 1 VAR_012949 Q9UHC1:p.Arg647Cys SP substitution exon 1 VAR_012950 Q9UHC1:p.Ser817Gly SP substitution exon 1 VAR_012951 Q9UHC1:p.Gly981Ser SP substitution exon 1 VAR_012952 Q9UHC1:p.Asn1007Ser SP substitution exon 1 VAR_012953 Q9UHC1:p.Ala1394Thr SP substitution exon 1 VAR_012954 Q9UHC1:p.Glu1451Lys SP substitution exon 1 VAR_012955 P52701:p.Ser144Ile SP substitution exon 1 VAR_012956 P52701:p.Glu220Asp SP substitution exon 1 VAR_012957 P52701:p.Ser285Ile SP substitution exon 1 VAR_012958 P52701:p.Leu396Val SP substitution exon 1 VAR_012959 P52701:p.Gly566Arg SP substitution exon 1 VAR_012960 P52701:p.Gln698Glu SP substitution exon 1 VAR_012961 P52701:p.Val800Leu SP substitution exon 1 VAR_012962 P52701:p.Asp803Gly SP substitution exon 1 VAR_012963 P52701:p.Tyr850Cys SP substitution exon 1 VAR_012964 P52701:p.Val878Ala SP substitution exon 1 VAR_012965 P52701:p.Arg976His SP substitution exon 1 VAR_012967 P54277:p.Met394Thr SP substitution exon 1 VAR_012968 P54277:p.Gly501Arg SP substitution exon 1 VAR_012969 P54278:p.His479Gln SP substitution exon 1 VAR_012970 P54278:p.Thr485Lys SP substitution exon 1 VAR_012971 P54278:p.Thr511Ala SP substitution exon 1 VAR_012975 P25054:p.Val890Ile SP substitution exon 1 VAR_012976 P25054:p.Ala1508Val SP substitution exon 1 VAR_012977 P04637:p.Val157Ile SP substitution exon 1 VAR_012978 Q9BQE5:p.Ile245Val SP substitution exon 1 VAR_012979 Q9HD90:p.Lys68Thr SP substitution exon 1 VAR_012982 P07355:p.Val98Leu SP substitution exon 1 VAR_012983 P04004:p.Ala122Ser SP substitution exon 1 VAR_012984 P04004:p.Arg268Gln SP substitution exon 1 VAR_012985 P04004:p.Thr400Met SP substitution exon 1 VAR_012986 P61106:p.Ala4Thr SP substitution exon 1 VAR_012987 P43080:p.Glu155Gly SP substitution exon 1 VAR_012988 P17931:p.Pro64His SP substitution exon 1 VAR_012989 P17931:p.Thr98Pro SP substitution exon 1 VAR_012990 O00214:p.Phe19Tyr SP substitution exon 1 VAR_012991 O00214:p.Met56Val SP substitution exon 1 VAR_012993 Q16587:p.Glu117Lys SP substitution exon 1 VAR_012995 P34969:p.Thr92Lys SP substitution exon 1 VAR_012996 P34969:p.Pro279Leu SP substitution exon 1 VAR_012997 P02787:p.Ala477Pro SP substitution exon 1 VAR_013000 P01562:p.Ala137Val SP substitution exon 1 VAR_013002 P05014:p.Ala74Thr SP substitution exon 1 VAR_013003 P05014:p.Glu137Val SP substitution exon 1 VAR_013005 P98066:p.Gln144Arg SP substitution exon 1 VAR_013006 O43542:p.Thr241Met SP substitution exon 1 VAR_013007 Q92956:p.Lys17Arg SP substitution exon 1 VAR_013008 P06702:p.His20Arg SP substitution exon 1 VAR_013009 P50747:p.Arg508Trp SP substitution exon 1 VAR_013010 P45954:p.Leu255Phe SP substitution exon 1 VAR_013011 P02768:p.Leu90Pro SP substitution exon 1 VAR_013012 P02768:p.Val146Glu SP substitution exon 1 VAR_013013 P02768:p.Arg242Pro SP substitution exon 1 VAR_013014 P02768:p.Asp338Gly SP substitution exon 1 VAR_013015 P02768:p.Asp338Val SP substitution exon 1 VAR_013016 P02768:p.Lys383Asn SP substitution exon 1 VAR_013017 P02768:p.Arg434Cys SP substitution exon 1 VAR_013020 P01571:p.Ile184Arg SP substitution exon 1 VAR_013027 P09417:p.Ser51Thr SP substitution exon 1 VAR_013029 O60500:p.Trp64Ser SP substitution exon 1 VAR_013030 O60500:p.Glu117Lys SP substitution exon 1 VAR_013031 O60500:p.Ile171Asn SP substitution exon 1 VAR_013033 O60500:p.Ile173Asn SP substitution exon 1 VAR_013035 O60500:p.Gly270Cys SP substitution exon 1 VAR_013036 O60500:p.Ser350Pro SP substitution exon 1 VAR_013037 O60500:p.Ser366Arg SP substitution exon 1 VAR_013038 O60500:p.Arg367Cys SP substitution exon 1 VAR_013039 O60500:p.Pro368Ser SP substitution exon 1 VAR_013040 O60500:p.Leu376Val SP substitution exon 1 VAR_013041 O60500:p.Arg408Gln SP substitution exon 1 VAR_013042 O60500:p.Glu447Lys SP substitution exon 1 VAR_013043 O60500:p.Cys465Tyr SP substitution exon 1 VAR_013044 O60500:p.Cys528Phe SP substitution exon 1 VAR_013045 O60500:p.Leu610Gln SP substitution exon 1 VAR_013046 O60500:p.Cys623Phe SP substitution exon 1 VAR_013047 O60500:p.Ser724Cys SP substitution exon 1 VAR_013048 O60500:p.Arg743Cys SP substitution exon 1 VAR_013049 O60500:p.Arg802Trp SP substitution exon 1 VAR_013050 O60500:p.Arg802Pro SP substitution exon 1 VAR_013051 O60500:p.Ala806Asp SP substitution exon 1 VAR_013052 O60500:p.Asp819Val SP substitution exon 1 VAR_013053 O60500:p.Arg831Cys SP substitution exon 1 VAR_013054 O60500:p.Asn1077Ser SP substitution exon 1 VAR_013055 O60500:p.Arg1140Cys SP substitution exon 1 VAR_013056 Q9BXM0:p.Ala406Thr SP substitution exon 1 VAR_013057 Q9BXM0:p.Glu495Gln SP substitution exon 1 VAR_013058 Q9BXM0:p.Val882Ala SP substitution exon 1 VAR_013059 Q9BXM0:p.Ile921Met SP substitution exon 1 VAR_013060 Q9BXM0:p.Lys935Glu SP substitution exon 1 VAR_013061 Q9BXM0:p.Pro1083Arg SP substitution exon 1 VAR_013062 Q9BXM0:p.Gly1132Arg SP substitution exon 1 VAR_013063 Q9BXM0:p.Glu1259Lys SP substitution exon 1 VAR_013066 Q14314:p.Gly53Glu SP substitution exon 1 VAR_013067 P51946:p.Arg28Leu SP substitution exon 1 VAR_013068 P51946:p.Met54Val SP substitution exon 1 VAR_013069 P51946:p.Lys138Arg SP substitution exon 1 VAR_013070 P51946:p.Val270Ala SP substitution exon 1 VAR_013071 P08700:p.Arg15His SP substitution exon 1 VAR_013072 P08700:p.Pro27Ser SP substitution exon 1 VAR_013073 P09919:p.Leu157Met SP substitution exon 1 VAR_013074 P09919:p.Ala174Thr SP substitution exon 1 VAR_013075 P05231:p.Pro32Ser SP substitution exon 1 VAR_013076 P05231:p.Asp162Val SP substitution exon 1 VAR_013077 Q9UHD0:p.Phe175Ser SP substitution exon 1 VAR_013078 Q9GZX6:p.Ser158Gly SP substitution exon 1 VAR_013079 P15248:p.Thr117Met SP substitution exon 1 VAR_013080 P05154:p.Ser44Gly SP substitution exon 1 VAR_013081 P05154:p.Ser64Asn SP substitution exon 1 VAR_013082 P05154:p.Gly94Val SP substitution exon 1 VAR_013083 P05154:p.Leu115Pro SP substitution exon 1 VAR_013085 P01008:p.Thr147Ala SP substitution exon 1 VAR_013086 P05121:p.His25Pro SP substitution exon 1 VAR_013087 P05121:p.Arg209His SP substitution exon 1 VAR_013088 P05121:p.Thr255Asn SP substitution exon 1 VAR_013089 P04141:p.Thr115Ile SP substitution exon 1 VAR_013090 P08254:p.Lys45Glu SP substitution exon 1 VAR_013091 P02675:p.Pro100Ser SP substitution exon 1 VAR_013092 P02675:p.Asn170His SP substitution exon 1 VAR_013093 P02675:p.Pro265Leu SP substitution exon 1 VAR_013094 P42226:p.Met181Arg SP substitution exon 1 VAR_013095 P06737:p.Val231Glu SP substitution exon 1 VAR_013096 P06737:p.Arg715Ser SP substitution exon 1 VAR_013097 Q13007:p.His125Arg SP substitution exon 1 VAR_013098 Q13007:p.Val131Leu SP substitution exon 1 VAR_013101 P57727:p.Ile253Val SP substitution exon 1 VAR_013102 P00749:p.Ile214Met SP substitution exon 1 VAR_013103 P15259:p.Gly97Asp SP substitution exon 1 VAR_013104 P31213:p.Ala49Thr SP substitution exon 1 VAR_013105 P31213:p.Leu55Gln SP substitution exon 1 VAR_013106 P31213:p.Gly115Asp SP substitution exon 1 VAR_013108 P31213:p.Gly183Ser SP substitution exon 1 VAR_013109 P31213:p.Gly196Ser SP substitution exon 1 VAR_013110 P31213:p.Glu197Asp SP substitution exon 1 VAR_013111 P31213:p.Pro212Arg SP substitution exon 1 VAR_013112 P31213:p.Ala228Thr SP substitution exon 1 VAR_013113 P31213:p.His231Arg SP substitution exon 1 VAR_013114 P16989:p.Thr75Ala SP substitution exon 1 VAR_013115 P28070:p.Ile234Thr SP substitution exon 1 VAR_013116 P78329:p.Ser7Tyr SP substitution exon 1 VAR_013117 P78329:p.Trp12Gly SP substitution exon 1 VAR_013118 P78329:p.Gly185Val SP substitution exon 1 VAR_013121 O95807:p.Ala58Val SP substitution exon 1 VAR_013122 P08709:p.Ala352Thr SP substitution exon 1 VAR_013123 P08709:p.Glu445Lys SP substitution exon 1 VAR_013124 P22891:p.Glu70Lys SP substitution exon 1 VAR_013125 P22891:p.Arg295His SP substitution exon 1 VAR_013126 Q99456:p.Met129Thr SP substitution exon 1 VAR_013127 Q99456:p.Gln130Pro SP substitution exon 1 VAR_013128 P33032:p.Phe209Leu SP substitution exon 1 VAR_013130 P31213:p.Gly85Asp SP substitution exon 1 VAR_013131 P31213:p.Val89Leu SP substitution exon 1 VAR_013132 P31213:p.Glu200Lys SP substitution exon 1 VAR_013133 P31213:p.Ser245Tyr SP substitution exon 1 VAR_013134 P31213:p.Arg246Gln SP substitution exon 1 VAR_013135 P09493:p.Ala63Val SP substitution exon 1 VAR_013137 P52292:p.Pro165Arg SP substitution exon 1 VAR_013138 P07202:p.Arg648Gln SP substitution exon 1 VAR_013139 P27918:p.Gly298Val SP substitution exon 1 VAR_013140 Q14679:p.Arg418His SP substitution exon 1 VAR_013141 P49711:p.Arg339Trp SP substitution exon 1 VAR_013142 P49711:p.Lys344Glu SP substitution exon 1 VAR_013143 P49711:p.His345Arg SP substitution exon 1 VAR_013146 P05186:p.Ala132Val SP substitution exon 1 VAR_013147 P05093:p.Phe93Cys SP substitution exon 1 VAR_013148 P03950:p.Lys84Glu SP substitution exon 1 VAR_013149 P12724:p.Thr124Arg SP substitution exon 1 VAR_013150 P10153:p.His156Asn SP substitution exon 1 VAR_013157 Q9NSC2:p.Ser159Gly SP substitution exon 1 VAR_013160 O00560:p.Asn69Ser SP substitution exon 1 VAR_013161 Q9NPJ1:p.Cys499Ser SP substitution exon 1 VAR_013162 Q9BXC9:p.Asn70Ser SP substitution exon 1 VAR_013163 Q9BXC9:p.Val75Gly SP substitution exon 1 VAR_013164 Q9BXC9:p.Asp104Ala SP substitution exon 1 VAR_013165 Q9BXC9:p.Ile123Val SP substitution exon 1 VAR_013166 Q9BXC9:p.Arg315Gln SP substitution exon 1 VAR_013167 Q9BXC9:p.Arg315Trp SP substitution exon 1 VAR_013168 Q9BXC9:p.Thr558Ile SP substitution exon 1 VAR_013169 Q9BXC9:p.Arg632Pro SP substitution exon 1 VAR_013170 Q96RK4:p.Arg295Pro SP substitution exon 1 VAR_013171 P43246:p.Thr8Met SP substitution exon 1 VAR_013174 Q9UBY8:p.Arg24Gly SP substitution exon 1 VAR_013175 Q9UBY8:p.Ala155Val SP substitution exon 1 VAR_013176 P24539:p.Thr152Asn SP substitution exon 1 VAR_013179 P50553:p.Glu158Gly SP substitution exon 1 VAR_013181 Q92629:p.Ser150Ala SP substitution exon 1 VAR_013182 P11166:p.Gly91Asp SP substitution exon 1 VAR_013183 P11166:p.Arg126His SP substitution exon 1 VAR_013184 P11166:p.Arg126Leu SP substitution exon 1 VAR_013185 P11166:p.Lys256Glu SP substitution exon 1 VAR_013186 P78504:p.Leu37Ser SP substitution exon 1 VAR_013187 P78504:p.Leu79His SP substitution exon 1 VAR_013188 P78504:p.Ala127Thr SP substitution exon 1 VAR_013189 P78504:p.Pro129Arg SP substitution exon 1 VAR_013190 P78504:p.Ile152Thr SP substitution exon 1 VAR_013191 P78504:p.Pro163Leu SP substitution exon 1 VAR_013192 P78504:p.Arg184Cys SP substitution exon 1 VAR_013193 P78504:p.Arg184Gly SP substitution exon 1 VAR_013194 P78504:p.Arg184His SP substitution exon 1 VAR_013195 P78504:p.Arg184Leu SP substitution exon 1 VAR_013196 P78504:p.Cys187Ser SP substitution exon 1 VAR_013197 P78504:p.Cys220Phe SP substitution exon 1 VAR_013198 P78504:p.Cys229Gly SP substitution exon 1 VAR_013199 P78504:p.Cys229Tyr SP substitution exon 1 VAR_013200 P78504:p.Gly274Asp SP substitution exon 1 VAR_013201 P78504:p.Cys284Phe SP substitution exon 1 VAR_013202 P78504:p.Trp288Cys SP substitution exon 1 VAR_013203 P78504:p.Gly386Arg SP substitution exon 1 VAR_013204 P78504:p.Cys438Phe SP substitution exon 1 VAR_013205 P78504:p.Cys731Ser SP substitution exon 1 VAR_013206 P78504:p.Cys740Arg SP substitution exon 1 VAR_013207 P78504:p.Cys753Arg SP substitution exon 1 VAR_013208 O95999:p.Ala5Ser SP substitution exon 1 VAR_013209 O95999:p.Val16Glu SP substitution exon 1 VAR_013210 O95999:p.Lys31Glu SP substitution exon 1 VAR_013211 O95999:p.Lys45Gln SP substitution exon 1 VAR_013212 O95999:p.Thr52Ile SP substitution exon 1 VAR_013213 O95999:p.Cys57Arg SP substitution exon 1 VAR_013214 O95999:p.Arg58Gly SP substitution exon 1 VAR_013215 O95999:p.Arg58Gln SP substitution exon 1 VAR_013216 O95999:p.Arg64Lys SP substitution exon 1 VAR_013217 O95999:p.Asn93Ser SP substitution exon 1 VAR_013218 O95999:p.Asp101Glu SP substitution exon 1 VAR_013219 O95999:p.Ser134Pro SP substitution exon 1 VAR_013220 O95999:p.Met153Val SP substitution exon 1 VAR_013221 O95999:p.Thr168Ala SP substitution exon 1 VAR_013222 O95999:p.Leu174Ser SP substitution exon 1 VAR_013224 O95999:p.Gly213Glu SP substitution exon 1 VAR_013225 O95999:p.Ser218Phe SP substitution exon 1 VAR_013226 O95999:p.Val230Ile SP substitution exon 1 VAR_013227 Q96P20:p.Val200Met SP substitution exon 1 VAR_013228 Q96P20:p.Ala354Val SP substitution exon 1 VAR_013229 Q96P20:p.Ala441Val SP substitution exon 1 VAR_013230 Q96P20:p.Glu629Gly SP substitution exon 1 VAR_013231 P51460:p.Ala24Gly SP substitution exon 1 VAR_013232 P51460:p.Val43Leu SP substitution exon 1 VAR_013233 P51460:p.Pro49Ser SP substitution exon 1 VAR_013234 P51460:p.Thr60Ala SP substitution exon 1 VAR_013235 P51460:p.Pro93Leu SP substitution exon 1 VAR_013236 P51460:p.Arg102Cys SP substitution exon 1 VAR_013237 P51460:p.Arg102His SP substitution exon 1 VAR_013238 O43819:p.Arg171Trp SP substitution exon 1 VAR_013239 Q9GZT5:p.Pro302Thr SP substitution exon 1 VAR_013241 P30926:p.Arg136Trp SP substitution exon 1 VAR_013242 P30926:p.Ser140Gly SP substitution exon 1 VAR_013244 Q9HCS2:p.Pro13Leu SP substitution exon 1 VAR_013245 Q9HCS2:p.Asn76Asp SP substitution exon 1 VAR_013246 Q9HCS2:p.Ile90Val SP substitution exon 1 VAR_013247 Q9HCS2:p.Cys188Arg SP substitution exon 1 VAR_013248 O43548:p.Pro67Ser SP substitution exon 1 VAR_013249 O43548:p.Ala352Gly SP substitution exon 1 VAR_013250 O95932:p.Met58Val SP substitution exon 1 VAR_013251 Q969F9:p.Arg397Trp SP substitution exon 1 VAR_013252 P08697:p.Ala27Val SP substitution exon 1 VAR_013253 P08697:p.Arg33Trp SP substitution exon 1 VAR_013255 P08697:p.Val411Met SP substitution exon 1 VAR_013256 P08697:p.Arg434Lys SP substitution exon 1 VAR_013257 P78314:p.Arg415Pro SP substitution exon 1 VAR_013258 P78314:p.Arg415Gln SP substitution exon 1 VAR_013259 P78314:p.Pro418His SP substitution exon 1 VAR_013260 P78314:p.Pro418Leu SP substitution exon 1 VAR_013261 P78314:p.Pro418Arg SP substitution exon 1 VAR_013262 P78314:p.Gly420Glu SP substitution exon 1 VAR_013263 P78314:p.Gly420Arg SP substitution exon 1 VAR_013264 Q9UGJ0:p.Arg302Gln SP substitution exon 1 VAR_013273 Q15848:p.Gly84Arg SP substitution exon 1 VAR_013274 Q15848:p.Arg112Cys SP substitution exon 1 VAR_013275 Q15848:p.Val117Met SP substitution exon 1 VAR_013276 Q15848:p.Ile164Thr SP substitution exon 1 VAR_013277 Q15848:p.Arg221Ser SP substitution exon 1 VAR_013278 Q15848:p.His241Pro SP substitution exon 1 VAR_013279 P29972:p.Pro38Leu SP substitution exon 1 VAR_013280 P54710:p.Gly41Arg SP substitution exon 1 VAR_013281 Q13705:p.Arg40His SP substitution exon 1 VAR_013283 P11166:p.Ser66Phe SP substitution exon 1 VAR_013284 P11166:p.Glu146Lys SP substitution exon 1 VAR_013285 P11166:p.Thr310Ile SP substitution exon 1 VAR_013286 P11166:p.Arg333Trp SP substitution exon 1 VAR_013287 O60218:p.Asn313Asp SP substitution exon 1 VAR_013288 P42330:p.His5Gln SP substitution exon 1 VAR_013289 P42330:p.Met175Ile SP substitution exon 1 VAR_013290 P17516:p.Ser145Cys SP substitution exon 1 VAR_013291 P17516:p.Leu311Val SP substitution exon 1 VAR_013292 Q99436:p.Val39Ala SP substitution exon 1 VAR_013293 Q9NVP1:p.Thr94Ser SP substitution exon 1 VAR_013294 P11226:p.Thr24Ala SP substitution exon 1 VAR_013295 P26718:p.Ala72Thr SP substitution exon 1 VAR_013296 Q07444:p.Trp19Pro SP substitution exon 1 VAR_013297 P33993:p.Asn144Ser SP substitution exon 1 VAR_013298 P07099:p.Arg49Cys SP substitution exon 1 VAR_013299 P07099:p.Leu260Pro SP substitution exon 1 VAR_013300 P07099:p.Arg454Gln SP substitution exon 1 VAR_013301 P18577:p.Arg154Thr SP substitution exon 1 VAR_013302 P18577:p.Gln233Glu SP substitution exon 1 VAR_013303 P18577:p.Met238Val SP substitution exon 1 VAR_013304 Q02161:p.Phe223Val SP substitution exon 1 VAR_013305 Q02161:p.Glu233Gln SP substitution exon 1 VAR_013306 Q02161:p.Val238Met SP substitution exon 1 VAR_013307 Q02161:p.Val245Leu SP substitution exon 1 VAR_013308 Q9NR45:p.Glu68Asp SP substitution exon 1 VAR_013309 Q15654:p.Leu296Phe SP substitution exon 1 VAR_013311 O94808:p.Ile471Val SP substitution exon 1 VAR_013312 Q15155:p.Ile404Val SP substitution exon 1 VAR_013313 Q15155:p.Lys458Asn SP substitution exon 1 VAR_013314 Q15155:p.Asn490Asp SP substitution exon 1 VAR_013315 Q15155:p.Ile1141Phe SP substitution exon 1 VAR_013316 Q15155:p.Arg1195Gly SP substitution exon 1 VAR_013317 P33527:p.Cys43Ser SP substitution exon 1 VAR_013318 P33527:p.Thr73Ile SP substitution exon 1 VAR_013319 P33527:p.Met117Thr SP substitution exon 1 VAR_013320 P33527:p.Arg433Ser SP substitution exon 1 VAR_013321 P33527:p.Arg723Gln SP substitution exon 1 VAR_013322 P33527:p.Arg1058Gln SP substitution exon 1 VAR_013323 P33527:p.Ser1512Leu SP substitution exon 1 VAR_013324 Q92887:p.Ser281Asn SP substitution exon 1 VAR_013325 Q92887:p.Val417Ile SP substitution exon 1 VAR_013326 Q92887:p.Ser789Phe SP substitution exon 1 VAR_013327 Q92887:p.Arg1150His SP substitution exon 1 VAR_013328 Q92887:p.Ile1173Phe SP substitution exon 1 VAR_013330 Q92887:p.Ala1450Thr SP substitution exon 1 VAR_013331 Q9NUT2:p.Val152Ile SP substitution exon 1 VAR_013332 O95342:p.Val284Leu SP substitution exon 1 VAR_013333 O95342:p.Val444Ala SP substitution exon 1 VAR_013334 O95342:p.Lys461Glu SP substitution exon 1 VAR_013335 O95342:p.Asp482Gly SP substitution exon 1 VAR_013340 P33897:p.Asn13Thr SP substitution exon 1 VAR_013341 P33897:p.Ala99Asp SP substitution exon 1 VAR_013342 P33897:p.Arg113Pro SP substitution exon 1 VAR_013344 P33897:p.Lys217Glu SP substitution exon 1 VAR_013345 P33897:p.Val224Glu SP substitution exon 1 VAR_013346 P33897:p.Arg274Trp SP substitution exon 1 VAR_013347 P33897:p.Arg280Cys SP substitution exon 1 VAR_013349 P33897:p.Trp339Arg SP substitution exon 1 VAR_013350 P33897:p.Gly343Asp SP substitution exon 1 VAR_013352 P33897:p.Gln556Arg SP substitution exon 1 VAR_013353 P33897:p.Pro560Ser SP substitution exon 1 VAR_013354 P33897:p.Arg591Pro SP substitution exon 1 VAR_013355 P33897:p.Gly608Asp SP substitution exon 1 VAR_013356 P33897:p.Ala626Asp SP substitution exon 1 VAR_013357 P33897:p.Thr632Ile SP substitution exon 1 VAR_013358 P33897:p.Ser633Ile SP substitution exon 1 VAR_013359 P33897:p.Val635Met SP substitution exon 1 VAR_013360 P33897:p.Arg660Pro SP substitution exon 1 VAR_013361 P08183:p.Ser893Ala SP substitution exon 1 VAR_013362 P08183:p.Ser893Thr SP substitution exon 1 VAR_013364 O95255:p.Gly61Asp SP substitution exon 1 VAR_013365 O95255:p.Arg64Trp SP substitution exon 1 VAR_013366 O95255:p.Gly207Arg SP substitution exon 1 VAR_013367 O95255:p.Arg265Gly SP substitution exon 1 VAR_013368 O95255:p.Lys281Glu SP substitution exon 1 VAR_013369 O95255:p.Ile319Val SP substitution exon 1 VAR_013370 O95255:p.Thr364Arg SP substitution exon 1 VAR_013371 O95255:p.Asn411Lys SP substitution exon 1 VAR_013372 O95255:p.Ala455Pro SP substitution exon 1 VAR_013373 O95255:p.Asn497Lys SP substitution exon 1 VAR_013374 O95255:p.Arg518Gln SP substitution exon 1 VAR_013375 O95255:p.Phe568Ser SP substitution exon 1 VAR_013376 O95255:p.His632Gln SP substitution exon 1 VAR_013377 O95255:p.Leu673Pro SP substitution exon 1 VAR_013378 O95255:p.Arg765Gln SP substitution exon 1 VAR_013379 O95255:p.Leu953His SP substitution exon 1 VAR_013380 O95255:p.Ser1121Trp SP substitution exon 1 VAR_013381 O95255:p.Arg1138Pro SP substitution exon 1 VAR_013382 O95255:p.Gly1203Asp SP substitution exon 1 VAR_013383 O95255:p.Trp1241Cys SP substitution exon 1 VAR_013384 O95255:p.Val1298Phe SP substitution exon 1 VAR_013385 O95255:p.Thr1301Ile SP substitution exon 1 VAR_013386 O95255:p.Gly1302Arg SP substitution exon 1 VAR_013387 O95255:p.Ala1303Pro SP substitution exon 1 VAR_013388 O95255:p.Arg1314Gln SP substitution exon 1 VAR_013389 O95255:p.Gly1321Ser SP substitution exon 1 VAR_013390 O95255:p.Arg1339Cys SP substitution exon 1 VAR_013391 O95255:p.Gln1347His SP substitution exon 1 VAR_013392 O95255:p.Gly1354Arg SP substitution exon 1 VAR_013393 O95255:p.Asp1361Asn SP substitution exon 1 VAR_013394 O95255:p.Ile1424Thr SP substitution exon 1 VAR_013395 Q92889:p.Pro379Ser SP substitution exon 1 VAR_013396 Q92889:p.Arg415Gln SP substitution exon 1 VAR_013402 P05107:p.Ser138Pro SP substitution exon 1 VAR_013403 P05107:p.Gly273Arg SP substitution exon 1 VAR_013406 O43908:p.Ile29Ser SP substitution exon 1 VAR_013407 O43908:p.Asn104Ser SP substitution exon 1 VAR_013410 P19438:p.Cys59Arg SP substitution exon 1 VAR_013411 P19438:p.Cys62Tyr SP substitution exon 1 VAR_013412 P19438:p.Thr79Met SP substitution exon 1 VAR_013413 P19438:p.Cys81Phe SP substitution exon 1 VAR_013414 P19438:p.Cys117Arg SP substitution exon 1 VAR_013415 P19438:p.Cys117Tyr SP substitution exon 1 VAR_013416 P25445:p.Ala25Thr SP substitution exon 1 VAR_013417 P25445:p.Thr28Ala SP substitution exon 1 VAR_013418 P25445:p.Cys82Arg SP substitution exon 1 VAR_013419 P25445:p.Arg121Trp SP substitution exon 1 VAR_013420 P25445:p.Leu180Phe SP substitution exon 1 VAR_013421 P25445:p.Pro183Leu SP substitution exon 1 VAR_013422 P25445:p.Thr198Ile SP substitution exon 1 VAR_013423 P25445:p.Tyr232Cys SP substitution exon 1 VAR_013424 P25445:p.Thr241Lys SP substitution exon 1 VAR_013425 P25445:p.Thr241Pro SP substitution exon 1 VAR_013426 P25445:p.Arg250Pro SP substitution exon 1 VAR_013427 P25445:p.Arg250Gln SP substitution exon 1 VAR_013428 P25445:p.Ala257Asp SP substitution exon 1 VAR_013429 P25445:p.Asp260Gly SP substitution exon 1 VAR_013430 P25445:p.Asp260Tyr SP substitution exon 1 VAR_013431 P25445:p.Asp260Val SP substitution exon 1 VAR_013432 P25445:p.Asn264Lys SP substitution exon 1 VAR_013433 P25445:p.Thr270Ile SP substitution exon 1 VAR_013434 P25445:p.Glu272Gly SP substitution exon 1 VAR_013435 P25445:p.Glu272Lys SP substitution exon 1 VAR_013436 P25445:p.Leu278Phe SP substitution exon 1 VAR_013437 P25445:p.Lys299Asn SP substitution exon 1 VAR_013438 P25445:p.Ile310Ser SP substitution exon 1 VAR_013439 O00300:p.Asn3Lys SP substitution exon 1 VAR_013442 Q9Y672:p.Phe304Ser SP substitution exon 1 VAR_013443 Q9Y672:p.Ala333Val SP substitution exon 1 VAR_013444 Q9Y672:p.Ser478Pro SP substitution exon 1 VAR_013445 O75083:p.Ile185Val SP substitution exon 1 VAR_013446 Q9UHL9:p.Met652Val SP substitution exon 1 VAR_013447 Q9NP61:p.Ser355Arg SP substitution exon 1 VAR_013448 Q9UNE0:p.Cys87Arg SP substitution exon 1 VAR_013449 Q9UNE0:p.Arg89His SP substitution exon 1 VAR_013450 Q9UNE0:p.Arg420Gln SP substitution exon 1 VAR_013451 P23219:p.Trp8Arg SP substitution exon 1 VAR_013452 P23219:p.Pro17Leu SP substitution exon 1 VAR_013453 P23219:p.Lys359Arg SP substitution exon 1 VAR_013454 P23219:p.Ile443Val SP substitution exon 1 VAR_013455 P27695:p.Gln51His SP substitution exon 1 VAR_013456 P50750:p.Gly231Ala SP substitution exon 1 VAR_013457 P55317:p.Ala83Thr SP substitution exon 1 VAR_013459 Q9P2R7:p.Ser199Thr SP substitution exon 1 VAR_013460 P06753:p.Met8Arg SP substitution exon 1 VAR_013461 O43175:p.Val425Met SP substitution exon 1 VAR_013463 P06239:p.Val28Leu SP substitution exon 1 VAR_013465 P06239:p.Ala353Val SP substitution exon 1 VAR_013466 P06239:p.Pro447Leu SP substitution exon 1 VAR_013467 P37198:p.Ala233Ser SP substitution exon 1 VAR_013468 P07951:p.Glu117Ala SP substitution exon 1 VAR_013469 P07951:p.Gln147Pro SP substitution exon 1 VAR_013470 P68133:p.Met134Val SP substitution exon 1 VAR_013471 P68133:p.Met271Arg SP substitution exon 1 VAR_013481 Q04760:p.Glu111Ala SP substitution exon 1 VAR_013482 Q8WWZ3:p.Glu152Lys SP substitution exon 1 VAR_013483 Q9Y275:p.Ala105Thr SP substitution exon 1 VAR_013484 Q92838:p.Cys60Arg SP substitution exon 1 VAR_013485 Q92838:p.His252Tyr SP substitution exon 1 VAR_013486 Q92838:p.Gly269Val SP substitution exon 1 VAR_013487 Q92838:p.Phe302Ser SP substitution exon 1 VAR_013488 Q92838:p.Thr378Met SP substitution exon 1 VAR_013490 P57727:p.Asp103Gly SP substitution exon 1 VAR_013491 P57727:p.Arg109Trp SP substitution exon 1 VAR_013492 P57727:p.Gly111Ser SP substitution exon 1 VAR_013493 P57727:p.Asp173Asn SP substitution exon 1 VAR_013494 P57727:p.Cys194Phe SP substitution exon 1 VAR_013497 P07954:p.Asn107Thr SP substitution exon 1 VAR_013498 P07954:p.Ala117Pro SP substitution exon 1 VAR_013499 P07954:p.His180Arg SP substitution exon 1 VAR_013500 P07954:p.Gln185Arg SP substitution exon 1 VAR_013501 P07954:p.Arg233His SP substitution exon 1 VAR_013502 P07954:p.Gly282Val SP substitution exon 1 VAR_013503 P07954:p.Met328Arg SP substitution exon 1 VAR_013504 P02788:p.Ala29Thr SP substitution exon 1 VAR_013505 P02788:p.Lys47Arg SP substitution exon 1 VAR_013506 P02788:p.Ile148Thr SP substitution exon 1 VAR_013507 P02788:p.Gly422Cys SP substitution exon 1 VAR_013508 P02788:p.Glu579Asp SP substitution exon 1 VAR_013509 Q05823:p.Gly59Ser SP substitution exon 1 VAR_013510 Q05823:p.Ser406Phe SP substitution exon 1 VAR_013512 O60858:p.Ser355Thr SP substitution exon 1 VAR_013513 O00635:p.Gly421Arg SP substitution exon 1 VAR_013515 P11712:p.Ile359Thr SP substitution exon 1 VAR_013516 P11712:p.Asp360Glu SP substitution exon 1 VAR_013517 Q15758:p.Val512Leu SP substitution exon 1 VAR_013518 P00441:p.Ala5Ser SP substitution exon 1 VAR_013519 P00441:p.Leu9Gln SP substitution exon 1 VAR_013520 P00441:p.Leu9Val SP substitution exon 1 VAR_013521 P00441:p.Gly13Arg SP substitution exon 1 VAR_013522 P00441:p.Val15Gly SP substitution exon 1 VAR_013523 P00441:p.Glu22Gly SP substitution exon 1 VAR_013524 P00441:p.Leu39Arg SP substitution exon 1 VAR_013525 P00441:p.Phe46Cys SP substitution exon 1 VAR_013526 P00441:p.Glu50Lys SP substitution exon 1 VAR_013527 P00441:p.Asn66Ser SP substitution exon 1 VAR_013528 P00441:p.Leu68Arg SP substitution exon 1 VAR_013529 P00441:p.Asp77Tyr SP substitution exon 1 VAR_013530 P00441:p.Leu85Phe SP substitution exon 1 VAR_013531 P00441:p.Asn87Ser SP substitution exon 1 VAR_013532 P00441:p.Ala90Val SP substitution exon 1 VAR_013533 P00441:p.Asp91Val SP substitution exon 1 VAR_013534 P00441:p.Glu101Lys SP substitution exon 1 VAR_013535 P00441:p.Ser106Leu SP substitution exon 1 VAR_013536 P00441:p.Gly109Val SP substitution exon 1 VAR_013537 P00441:p.Ile113Met SP substitution exon 1 VAR_013538 P00441:p.Gly115Ala SP substitution exon 1 VAR_013539 P00441:p.Leu127Ser SP substitution exon 1 VAR_013540 P00441:p.Cys147Arg SP substitution exon 1 VAR_013541 P16278:p.Arg148Ser SP substitution exon 1 VAR_013542 P16278:p.Arg201His SP substitution exon 1 VAR_013543 P16278:p.Asp214Tyr SP substitution exon 1 VAR_013544 P16278:p.Val216Ala SP substitution exon 1 VAR_013545 P16278:p.Pro263Ser SP substitution exon 1 VAR_013546 P16278:p.Asn266Ser SP substitution exon 1 VAR_013547 P16278:p.Tyr270Asp SP substitution exon 1 VAR_013548 P16278:p.His281Tyr SP substitution exon 1 VAR_013549 P16278:p.Asp332Asn SP substitution exon 1 VAR_013550 P16278:p.Gln408Pro SP substitution exon 1 VAR_013551 P16278:p.Gly438Glu SP substitution exon 1 VAR_013552 P16278:p.Asn484Lys SP substitution exon 1 VAR_013553 P16278:p.Gly494Cys SP substitution exon 1 VAR_013554 P16278:p.Thr500Ala SP substitution exon 1 VAR_013555 P16278:p.Gly579Asp SP substitution exon 1 VAR_013556 Q99698:p.Arg1563His SP substitution exon 1 VAR_013557 Q99698:p.Val1999Asp SP substitution exon 1 VAR_013558 P10746:p.Gly188Arg SP substitution exon 1 VAR_013559 Q9Y375:p.Arg9His SP substitution exon 1 VAR_013560 Q9Y375:p.Arg31Leu SP substitution exon 1 VAR_013561 Q9Y375:p.Glu176Lys SP substitution exon 1 VAR_013562 Q9Y375:p.Ala314Gly SP substitution exon 1 VAR_013563 O00519:p.Pro129Thr SP substitution exon 1 VAR_013564 O60938:p.Val235Gly SP substitution exon 1 VAR_013565 P16219:p.Gly90Ser SP substitution exon 1 VAR_013567 P16219:p.Arg171Trp SP substitution exon 1 VAR_013568 P16219:p.Ala192Val SP substitution exon 1 VAR_013569 P16219:p.Arg325Trp SP substitution exon 1 VAR_013570 P16219:p.Ser353Leu SP substitution exon 1 VAR_013571 P16219:p.Arg380Trp SP substitution exon 1 VAR_013572 O43747:p.Pro685His SP substitution exon 1 VAR_013573 Q9NPY3:p.Val318Ala SP substitution exon 1 VAR_013574 P35613:p.Glu208Lys SP substitution exon 1 VAR_013575 Q07812:p.Gly11Glu SP substitution exon 1 VAR_013576 Q07812:p.Gly108Val SP substitution exon 1 VAR_013577 P16410:p.Thr17Ala SP substitution exon 1 VAR_013579 P02452:p.Arg312Cys SP substitution exon 1 VAR_013580 P12109:p.Lys121Arg SP substitution exon 1 VAR_013581 P12109:p.Gly305Val SP substitution exon 1 VAR_013582 P12109:p.Gly341Asp SP substitution exon 1 VAR_013583 P12107:p.Gly625Val SP substitution exon 1 VAR_013584 P12107:p.Gly676Arg SP substitution exon 1 VAR_013587 P12107:p.Gly1516Val SP substitution exon 1 VAR_013588 P05997:p.Gly963Arg SP substitution exon 1 VAR_013589 P12110:p.Gly271Ser SP substitution exon 1 VAR_013590 P12110:p.Asp621Asn SP substitution exon 1 VAR_013598 P03952:p.Asn143Ser SP substitution exon 1 VAR_013599 P03952:p.His202Gln SP substitution exon 1 VAR_013600 P03952:p.His208Pro SP substitution exon 1 VAR_013601 Q9HC97:p.Ala25Thr SP substitution exon 1 VAR_013602 Q9HC97:p.Val29Ile SP substitution exon 1 VAR_013603 Q9HC97:p.Thr108Met SP substitution exon 1 VAR_013604 Q9HC97:p.Arg125Ser SP substitution exon 1 VAR_013605 Q9HC97:p.Thr253Met SP substitution exon 1 VAR_013606 Q9HC97:p.Ser294Arg SP substitution exon 1 VAR_013607 Q01094:p.Arg252His SP substitution exon 1 VAR_013608 Q01094:p.Val276Met SP substitution exon 1 VAR_013609 Q01094:p.Thr311Asn SP substitution exon 1 VAR_013610 Q01094:p.Gly393Ser SP substitution exon 1 VAR_013611 Q01726:p.Ile40Thr SP substitution exon 1 VAR_013612 Q01726:p.Val60Leu SP substitution exon 1 VAR_013613 Q01726:p.Val122Met SP substitution exon 1 VAR_013614 Q01726:p.Ile155Thr SP substitution exon 1 VAR_013615 Q01726:p.Val156Leu SP substitution exon 1 VAR_013616 Q01726:p.Phe196Leu SP substitution exon 1 VAR_013617 P30536:p.Thr147Ala SP substitution exon 1 VAR_013618 P30536:p.Arg162His SP substitution exon 1 VAR_013619 P23760:p.Arg270Cys SP substitution exon 1 VAR_013620 P12259:p.Arg334Gly SP substitution exon 1 VAR_013621 P12259:p.Arg334Thr SP substitution exon 1 VAR_013622 P12259:p.Arg513Lys SP substitution exon 1 VAR_013623 Q9UNA1:p.Asn417Ser SP substitution exon 1 VAR_013628 P25942:p.Cys83Arg SP substitution exon 1 VAR_013629 P31930:p.Asn301Ser SP substitution exon 1 VAR_013630 P13866:p.Asp28Gly SP substitution exon 1 VAR_013631 P08574:p.Leu89Val SP substitution exon 1 VAR_013632 Q01726:p.Arg162Pro SP substitution exon 1 VAR_013633 P50914:p.Ala138Ser SP substitution exon 1 VAR_013638 O60890:p.Ala45Thr SP substitution exon 1 VAR_013639 O60890:p.Thr301Met SP substitution exon 1 VAR_013640 P23760:p.Ser73Leu SP substitution exon 1 VAR_013641 P23760:p.Gln391His SP substitution exon 1 VAR_013642 P14867:p.Ala322Asp SP substitution exon 1 VAR_013669 O00305:p.Cys104Phe SP substitution exon 1 VAR_013670 Q13873:p.Cys60Tyr SP substitution exon 1 VAR_013671 Q13873:p.Cys117Tyr SP substitution exon 1 VAR_013672 Q13873:p.Cys118Trp SP substitution exon 1 VAR_013673 Q13873:p.Cys123Arg SP substitution exon 1 VAR_013674 Q13873:p.Cys123Ser SP substitution exon 1 VAR_013675 Q13873:p.Glu224Asp SP substitution exon 1 VAR_013676 Q13873:p.Cys347Tyr SP substitution exon 1 VAR_013677 Q13873:p.Cys420Arg SP substitution exon 1 VAR_013678 Q13873:p.Cys483Arg SP substitution exon 1 VAR_013679 Q13873:p.Asp485Gly SP substitution exon 1 VAR_013680 Q13873:p.Arg491Gln SP substitution exon 1 VAR_013681 Q13873:p.Arg491Trp SP substitution exon 1 VAR_013682 Q13873:p.Lys512Thr SP substitution exon 1 VAR_013683 Q13873:p.Asn519Lys SP substitution exon 1 VAR_013684 Q99999:p.Val29Met SP substitution exon 1 VAR_013685 O95461:p.Arg68Gly SP substitution exon 1 VAR_013686 O95461:p.Arg68Pro SP substitution exon 1 VAR_013687 O95461:p.Arg665His SP substitution exon 1 VAR_013688 P54252:p.Val212Met SP substitution exon 1 VAR_013691 O15232:p.Arg121Trp SP substitution exon 1 VAR_013692 O15232:p.Val194Asp SP substitution exon 1 VAR_013693 Q9H503:p.Thr78Ser SP substitution exon 1 VAR_013694 Q9BXT6:p.Ile454Leu SP substitution exon 1 VAR_013695 Q9BXT6:p.Val650Ile SP substitution exon 1 VAR_013696 Q9BXT6:p.Gln820Arg SP substitution exon 1 VAR_013697 Q9BXT6:p.Ala1179Glu SP substitution exon 1 VAR_013698 P11310:p.Tyr67His SP substitution exon 1 VAR_013701 Q9NP78:p.Val121Met SP substitution exon 1 VAR_013702 Q9NRK6:p.Ala150Ser SP substitution exon 1 VAR_013703 P49257:p.Arg14Gln SP substitution exon 1 VAR_013704 P49257:p.Val39Ala SP substitution exon 1 VAR_013705 P49257:p.Met410Leu SP substitution exon 1 VAR_013706 Q12962:p.Ile92Thr SP substitution exon 1 VAR_013707 Q93070:p.Gly108Val SP substitution exon 1 VAR_013708 Q93070:p.Thr117Ile SP substitution exon 1 VAR_013709 Q93070:p.Asn265Asp SP substitution exon 1 VAR_013710 Q93070:p.Leu300Val SP substitution exon 1 VAR_013711 Q9UNF0:p.Met294Ile SP substitution exon 1 VAR_013712 Q9UNF0:p.Val324Phe SP substitution exon 1 VAR_013713 O43918:p.Arg15Leu SP substitution exon 1 VAR_013714 O43918:p.Thr16Met SP substitution exon 1 VAR_013715 O43918:p.Leu29Pro SP substitution exon 1 VAR_013716 O43918:p.Trp78Arg SP substitution exon 1 VAR_013717 O43918:p.Val80Leu SP substitution exon 1 VAR_013718 O43918:p.Tyr85Cys SP substitution exon 1 VAR_013719 O43918:p.Tyr90Cys SP substitution exon 1 VAR_013720 O43918:p.Leu93Arg SP substitution exon 1 VAR_013721 O43918:p.Val301Met SP substitution exon 1 VAR_013722 O43918:p.Gly305Ser SP substitution exon 1 VAR_013723 O43918:p.Cys311Tyr SP substitution exon 1 VAR_013724 O43918:p.Pro326Gln SP substitution exon 1 VAR_013725 O75398:p.Glu186Val SP substitution exon 1 VAR_013726 O75398:p.Lys191Ile SP substitution exon 1 VAR_013727 O75398:p.Lys191Asn SP substitution exon 1 VAR_013729 O75398:p.Glu202Asp SP substitution exon 1 VAR_013730 O75398:p.Arg218Lys SP substitution exon 1 VAR_013732 O75398:p.Glu356His SP substitution exon 1 VAR_013733 O75398:p.Ser364Asn SP substitution exon 1 VAR_013734 O75398:p.Gln367His SP substitution exon 1 VAR_013735 O75398:p.Val370Leu SP substitution exon 1 VAR_013736 O75398:p.Tyr397Phe SP substitution exon 1 VAR_013737 O75398:p.Val442Ala SP substitution exon 1 VAR_013738 O75398:p.Glu449Lys SP substitution exon 1 VAR_013740 O75398:p.Gln468His SP substitution exon 1 VAR_013741 O75398:p.His479Leu SP substitution exon 1 VAR_013742 O75398:p.Glu498Lys SP substitution exon 1 VAR_013743 O75398:p.Thr526Asn SP substitution exon 1 VAR_013744 O75398:p.Arg530Leu SP substitution exon 1 VAR_013746 O75398:p.Gln542His SP substitution exon 1 VAR_013747 O75398:p.Ala545Gly SP substitution exon 1 VAR_013748 O75398:p.Ala545Val SP substitution exon 1 VAR_013749 P19474:p.Pro52Ala SP substitution exon 1 VAR_013750 P19474:p.Gly96Arg SP substitution exon 1 VAR_013751 P19474:p.Glu231Lys SP substitution exon 1 VAR_013754 O75665:p.Ser435Arg SP substitution exon 1 VAR_013755 Q9NRG0:p.Cys55Tyr SP substitution exon 1 VAR_013756 Q9NRG0:p.His126Arg SP substitution exon 1 VAR_013757 P36639:p.Val124Met SP substitution exon 1 VAR_013758 O15344:p.Cys266Arg SP substitution exon 1 VAR_013764 Q9Y3D7:p.Gln114Lys SP substitution exon 1 VAR_013765 Q9UKY0:p.Thr26Pro SP substitution exon 1 VAR_013766 Q9UKY0:p.Pro56Leu SP substitution exon 1 VAR_013767 Q9UKY0:p.Thr174Met SP substitution exon 1 VAR_013769 Q9UKY0:p.Ser6Ile SP substitution exon 1 VAR_013770 Q9UKY0:p.Ser22Pro SP substitution exon 1 VAR_013771 Q9UKY0:p.His31Arg SP substitution exon 1 VAR_013772 Q9UKY0:p.Phe70Leu SP substitution exon 1 VAR_013773 Q9UKY0:p.Leu149Ser SP substitution exon 1 VAR_013774 Q9GZX7:p.Arg24Trp SP substitution exon 1 VAR_013775 Q9GZX7:p.Trp80Arg SP substitution exon 1 VAR_013776 Q9GZX7:p.Leu106Pro SP substitution exon 1 VAR_013777 Q9GZX7:p.Met139Val SP substitution exon 1 VAR_013778 Q9GZX7:p.Phe151Ser SP substitution exon 1 VAR_013779 P41238:p.Met80Ile SP substitution exon 1 VAR_013780 P14780:p.Ala20Val SP substitution exon 1 VAR_013781 P14780:p.Glu82Lys SP substitution exon 1 VAR_013782 P14780:p.Gln279Arg SP substitution exon 1 VAR_013783 P01138:p.Ala35Val SP substitution exon 1 VAR_013784 P02730:p.Glu90Lys SP substitution exon 1 VAR_013785 P02730:p.Gly130Arg SP substitution exon 1 VAR_013786 P02730:p.Pro147Ser SP substitution exon 1 VAR_013787 P02730:p.Ala285Asp SP substitution exon 1 VAR_013788 P02730:p.Arg432Trp SP substitution exon 1 VAR_013789 P02730:p.Gly455Glu SP substitution exon 1 VAR_013790 P02730:p.Glu480Lys SP substitution exon 1 VAR_013791 P02730:p.Val488Met SP substitution exon 1 VAR_013792 P02730:p.Arg490Cys SP substitution exon 1 VAR_013817 P51811:p.Arg222Gly SP substitution exon 1 VAR_013818 P51811:p.Cys294Arg SP substitution exon 1 VAR_013819 P17927:p.His1208Arg SP substitution exon 1 VAR_013820 P17927:p.Thr1408Ile SP substitution exon 1 VAR_013821 P17927:p.Lys1590Glu SP substitution exon 1 VAR_013822 P17927:p.Arg1601Gly SP substitution exon 1 VAR_013823 P17927:p.Ser1610Thr SP substitution exon 1 VAR_013824 P17927:p.Ile1615Val SP substitution exon 1 VAR_013825 P17927:p.Pro1827Arg SP substitution exon 1 VAR_013826 P17927:p.His1850Asp SP substitution exon 1 VAR_013827 Q8WXD2:p.Ser125Asn SP substitution exon 1 VAR_013828 Q9H267:p.Gly514Ser SP substitution exon 1 VAR_013829 P13647:p.Val186Leu SP substitution exon 1 VAR_013830 P17900:p.Ala19Thr SP substitution exon 1 VAR_013831 Q9Y6Q9:p.Gly460Arg SP substitution exon 1 VAR_013832 Q9Y6Q9:p.Pro559Ser SP substitution exon 1 VAR_013833 Q9Y6Q9:p.Gln586His SP substitution exon 1 VAR_013835 Q16696:p.Arg257Cys SP substitution exon 1 VAR_013836 Q14624:p.Ile86Asn SP substitution exon 1 VAR_013837 P08779:p.Leu124Arg SP substitution exon 1 VAR_013838 P98161:p.Arg3247His SP substitution exon 1 VAR_013839 P98161:p.Thr3382Met SP substitution exon 1 VAR_013840 P02763:p.Gln38Arg SP substitution exon 1 VAR_013841 P02763:p.Val174Met SP substitution exon 1 VAR_013842 Q16667:p.Trp31Arg SP substitution exon 1 VAR_013843 Q16667:p.Phe78Leu SP substitution exon 1 VAR_013844 Q16667:p.Cys79Tyr SP substitution exon 1 VAR_013845 Q16667:p.Asn91Lys SP substitution exon 1 VAR_013846 Q16667:p.Asp94Val SP substitution exon 1 VAR_013847 Q16667:p.Leu95Phe SP substitution exon 1 VAR_013848 Q16667:p.Ile108Val SP substitution exon 1 VAR_013849 Q16667:p.Asn187Ser SP substitution exon 1 VAR_013850 Q16667:p.Lys195Ile SP substitution exon 1 VAR_013864 Q8WXX7:p.Ala303Ser SP substitution exon 1 VAR_013865 P09544:p.Leu5Arg SP substitution exon 1 VAR_013866 P09544:p.Arg299Trp SP substitution exon 1 VAR_013867 Q9GZU5:p.Cys31Ser SP substitution exon 1 VAR_013868 Q9GZU5:p.Ala143Pro SP substitution exon 1 VAR_013869 Q9GZU5:p.Pro151Leu SP substitution exon 1 VAR_013870 Q9GZU5:p.Pro175Arg SP substitution exon 1 VAR_013871 Q9GZU5:p.Leu184Pro SP substitution exon 1 VAR_013872 Q9GZU5:p.Ala187Lys SP substitution exon 1 VAR_013873 Q9GZU5:p.Leu213Gln SP substitution exon 1 VAR_013874 Q9GZU5:p.Asn216Ser SP substitution exon 1 VAR_013875 Q9GZU5:p.Leu232Pro SP substitution exon 1 VAR_013876 Q9GZU5:p.Asn264Lys SP substitution exon 1 VAR_013877 Q9GZU5:p.Leu285Pro SP substitution exon 1 VAR_013878 Q9GZU5:p.Phe298Ser SP substitution exon 1 VAR_013879 Q9GZU5:p.Leu307Pro SP substitution exon 1 VAR_013880 Q9GZU5:p.Asn312Ser SP substitution exon 1 VAR_013881 Q9GZU5:p.Leu347Pro SP substitution exon 1 VAR_013882 Q9GZU5:p.Gly370Val SP substitution exon 1 VAR_013883 Q9P0X4:p.Ile1040Val SP substitution exon 1 VAR_013884 Q9P0X4:p.Gly1782Ala SP substitution exon 1 VAR_013885 Q14693:p.Pro610Ser SP substitution exon 1 VAR_013886 P12259:p.Asp107His SP substitution exon 1 VAR_013887 P12259:p.Met413Thr SP substitution exon 1 VAR_013888 P12259:p.Pro809Ser SP substitution exon 1 VAR_013889 P12259:p.Asn817Thr SP substitution exon 1 VAR_013890 P12259:p.Lys925Glu SP substitution exon 1 VAR_013891 P12259:p.His1146Gln SP substitution exon 1 VAR_013892 P12259:p.Leu1285Ile SP substitution exon 1 VAR_013893 P12259:p.His1327Arg SP substitution exon 1 VAR_013894 P12259:p.Glu1530Ala SP substitution exon 1 VAR_013895 P12259:p.Thr1685Ser SP substitution exon 1 VAR_013896 P12259:p.Leu1749Val SP substitution exon 1 VAR_013897 P12259:p.Met1764Val SP substitution exon 1 VAR_013898 P12259:p.Met1820Ile SP substitution exon 1 VAR_013899 P12259:p.Asp2222Gly SP substitution exon 1 VAR_013900 P05154:p.Pro121Ala SP substitution exon 1 VAR_013901 P28223:p.Ile197Val SP substitution exon 1 VAR_013902 P28223:p.Ala447Val SP substitution exon 1 VAR_013903 P23945:p.Ala307Thr SP substitution exon 1 VAR_013904 P23945:p.Ser524Arg SP substitution exon 1 VAR_013905 P23945:p.Asn680Ser SP substitution exon 1 VAR_013906 P29120:p.Arg80Gln SP substitution exon 1 VAR_013907 P29120:p.Asn221Asp SP substitution exon 1 VAR_013914 P12429:p.Ser19Asn SP substitution exon 1 VAR_013915 P12429:p.Ile219Asn SP substitution exon 1 VAR_013916 P12429:p.Pro251Leu SP substitution exon 1 VAR_013917 P12429:p.Phe291Ser SP substitution exon 1 VAR_013918 P16671:p.Val154Phe SP substitution exon 1 VAR_013919 P11597:p.Gly331Ser SP substitution exon 1 VAR_013920 P11597:p.Ala390Pro SP substitution exon 1 VAR_013921 P11597:p.Val422Ile SP substitution exon 1 VAR_013922 P11597:p.Arg468Gln SP substitution exon 1 VAR_013923 P11597:p.Val486Met SP substitution exon 1 VAR_013924 P26441:p.His182Arg SP substitution exon 1 VAR_013925 P21964:p.Cys34Ser SP substitution exon 1 VAR_013926 P21964:p.Ala72Ser SP substitution exon 1 VAR_013927 P00488:p.Val35Leu SP substitution exon 1 VAR_013928 P00488:p.Thr551Ile SP substitution exon 1 VAR_013929 P00488:p.Leu589Gln SP substitution exon 1 VAR_013930 P05160:p.Met49Val SP substitution exon 1 VAR_013931 P05160:p.Arg115His SP substitution exon 1 VAR_013932 P05160:p.His350Arg SP substitution exon 1 VAR_013933 P05160:p.Glu388Val SP substitution exon 1 VAR_013934 P05160:p.Tyr543Ser SP substitution exon 1 VAR_013935 P05160:p.Asp569Glu SP substitution exon 1 VAR_013936 P08709:p.Val295Asp SP substitution exon 1 VAR_013937 P10912:p.Arg179His SP substitution exon 1 VAR_013938 P10912:p.Arg229His SP substitution exon 1 VAR_013939 P10912:p.Cys440Phe SP substitution exon 1 VAR_013943 P01148:p.Trp16Ser SP substitution exon 1 VAR_013944 P05108:p.Glu314Lys SP substitution exon 1 VAR_013945 P05019:p.Ala187Asp SP substitution exon 1 VAR_013946 P04278:p.Arg25His SP substitution exon 1 VAR_013947 P09172:p.Ala211Thr SP substitution exon 1 VAR_013948 P09172:p.Arg549Cys SP substitution exon 1 VAR_013949 P01130:p.Cys46Ser SP substitution exon 1 VAR_013950 P01130:p.Asp172His SP substitution exon 1 VAR_013951 P01130:p.Cys184Tyr SP substitution exon 1 VAR_013952 P01130:p.Arg253Trp SP substitution exon 1 VAR_013953 P01130:p.Cys261Phe SP substitution exon 1 VAR_013954 P01130:p.Arg406Gln SP substitution exon 1 VAR_013956 P54803:p.Gly59Arg SP substitution exon 1 VAR_013957 P54803:p.Ser68Phe SP substitution exon 1 VAR_013958 P54803:p.Arg79His SP substitution exon 1 VAR_013959 P54803:p.Ile82Met SP substitution exon 1 VAR_013960 P54803:p.Arg184Cys SP substitution exon 1 VAR_013961 P54803:p.Thr278Ile SP substitution exon 1 VAR_013962 P54803:p.Ile305Val SP substitution exon 1 VAR_013963 P54803:p.Tyr314Cys SP substitution exon 1 VAR_013964 P54803:p.Tyr335Cys SP substitution exon 1 VAR_013970 P12830:p.Ser270Ala SP substitution exon 1 VAR_013971 P12830:p.Thr340Ala SP substitution exon 1 VAR_013972 P05186:p.Tyr28Cys SP substitution exon 1 VAR_013973 P05186:p.Ala51Val SP substitution exon 1 VAR_013974 P05186:p.Gly63Val SP substitution exon 1 VAR_013975 P05186:p.Arg71His SP substitution exon 1 VAR_013976 P05186:p.Gly75Ser SP substitution exon 1 VAR_013977 P05186:p.Ala116Thr SP substitution exon 1 VAR_013978 P05186:p.Gly120Arg SP substitution exon 1 VAR_013979 P05186:p.Gly129Arg SP substitution exon 1 VAR_013980 P05186:p.Arg152His SP substitution exon 1 VAR_013981 P05186:p.Asn170Asp SP substitution exon 1 VAR_013982 P05186:p.Ser181Leu SP substitution exon 1 VAR_013983 P05186:p.Arg184Trp SP substitution exon 1 VAR_013984 P05186:p.Asn211Asp SP substitution exon 1 VAR_013985 P05186:p.Gly220Val SP substitution exon 1 VAR_013986 P05186:p.Arg223Trp SP substitution exon 1 VAR_013987 P05186:p.Glu235Gly SP substitution exon 1 VAR_013988 P05186:p.Gly249Val SP substitution exon 1 VAR_013989 P05186:p.Glu291Lys SP substitution exon 1 VAR_013990 P05186:p.Asp294Tyr SP substitution exon 1 VAR_013991 P05186:p.Gly326Arg SP substitution exon 1 VAR_013992 P05186:p.Phe327Gly SP substitution exon 1 VAR_013993 P05186:p.Arg391Cys SP substitution exon 1 VAR_013994 P05186:p.Ala399Ser SP substitution exon 1 VAR_013995 P05186:p.Val423Ala SP substitution exon 1 VAR_013996 P05186:p.Ser445Pro SP substitution exon 1 VAR_013997 P05186:p.Arg450Cys SP substitution exon 1 VAR_013998 P05186:p.Val459Met SP substitution exon 1 VAR_013999 P05186:p.Gly473Ser SP substitution exon 1 VAR_014000 P05186:p.Ile490Phe SP substitution exon 1 VAR_014001 P05186:p.Gly491Arg SP substitution exon 1 VAR_014002 P11217:p.Leu116Pro SP substitution exon 1 VAR_014003 P11217:p.Arg194Trp SP substitution exon 1 VAR_014004 P11217:p.Leu292Pro SP substitution exon 1 VAR_014005 P11217:p.Glu349Lys SP substitution exon 1 VAR_014006 P11217:p.Thr488Asn SP substitution exon 1 VAR_014007 P11217:p.Arg602Trp SP substitution exon 1 VAR_014008 P11217:p.Ala660Asp SP substitution exon 1 VAR_014009 P11217:p.Gln666Glu SP substitution exon 1 VAR_014010 P11217:p.Asn685Tyr SP substitution exon 1 VAR_014011 P11217:p.Gly686Arg SP substitution exon 1 VAR_014012 P11217:p.Ala687Pro SP substitution exon 1 VAR_014013 P11217:p.Ala704Val SP substitution exon 1 VAR_014015 P11217:p.Trp798Arg SP substitution exon 1 VAR_014016 P55157:p.Gln95His SP substitution exon 1 VAR_014017 P55157:p.Ile128Thr SP substitution exon 1 VAR_014018 P55157:p.Gln244Glu SP substitution exon 1 VAR_014019 P55157:p.Asn780Tyr SP substitution exon 1 VAR_014020 P08842:p.Trp372Ser SP substitution exon 1 VAR_014021 P08842:p.Gly380Arg SP substitution exon 1 VAR_014022 P08842:p.His444Arg SP substitution exon 1 VAR_014023 P08842:p.Gln560Pro SP substitution exon 1 VAR_014025 P07101:p.Val112Met SP substitution exon 1 VAR_014026 P07101:p.Arg233His SP substitution exon 1 VAR_014027 P07101:p.Leu236Pro SP substitution exon 1 VAR_014028 P07101:p.Thr276Pro SP substitution exon 1 VAR_014029 P07101:p.Thr314Met SP substitution exon 1 VAR_014030 P07101:p.Arg337His SP substitution exon 1 VAR_014031 P07101:p.Gln412Lys SP substitution exon 1 VAR_014032 P07101:p.Thr494Met SP substitution exon 1 VAR_014033 P07101:p.Val499Met SP substitution exon 1 VAR_014034 O76024:p.Ala133Thr SP substitution exon 1 VAR_014037 O76024:p.Arg653Cys SP substitution exon 1 VAR_014038 O76024:p.Tyr669Cys SP substitution exon 1 VAR_014039 P08F94:p.Thr36Met SP substitution exon 1 VAR_014040 P08F94:p.Ile222Val SP substitution exon 1 VAR_014041 P08F94:p.Phe253Leu SP substitution exon 1 VAR_014042 P08F94:p.Thr752Met SP substitution exon 1 VAR_014043 P08F94:p.Arg760Cys SP substitution exon 1 VAR_014044 P08F94:p.Arg760His SP substitution exon 1 VAR_014045 P08F94:p.Trp852Arg SP substitution exon 1 VAR_014046 P08F94:p.Gly1122Ser SP substitution exon 1 VAR_014047 P08F94:p.Cys1204Tyr SP substitution exon 1 VAR_014048 P08F94:p.Cys1249Trp SP substitution exon 1 VAR_014049 P08F94:p.Ala1262Val SP substitution exon 1 VAR_014050 P08F94:p.Leu1407Arg SP substitution exon 1 VAR_014051 P08F94:p.Arg1624Trp SP substitution exon 1 VAR_014052 P08F94:p.Ser1664Phe SP substitution exon 1 VAR_014053 P08F94:p.Val1741Met SP substitution exon 1 VAR_014054 P08F94:p.Gln1917Arg SP substitution exon 1 VAR_014055 P08F94:p.Glu1995Gly SP substitution exon 1 VAR_014056 P08F94:p.Ile2331Lys SP substitution exon 1 VAR_014057 P08F94:p.Thr2938Met SP substitution exon 1 VAR_014058 P08F94:p.Ile2957Thr SP substitution exon 1 VAR_014059 P08F94:p.Ser3018Phe SP substitution exon 1 VAR_014060 P08F94:p.Asp3139Tyr SP substitution exon 1 VAR_014061 P08F94:p.Ile3553Thr SP substitution exon 1 VAR_014062 P08F94:p.Val3960Ile SP substitution exon 1 VAR_014063 P08F94:p.Gln4048Arg SP substitution exon 1 VAR_014064 O43252:p.Ser587Leu SP substitution exon 1 VAR_014065 O43252:p.Leu270Phe SP substitution exon 1 VAR_014066 Q9NP70:p.Met11Thr SP substitution exon 1 VAR_014067 Q9NP70:p.Leu354Pro SP substitution exon 1 VAR_014069 Q9NP70:p.His439Arg SP substitution exon 1 VAR_014071 Q92851:p.Leu285Phe SP substitution exon 1 VAR_014072 Q92851:p.Val410Ile SP substitution exon 1 VAR_014073 Q9HCQ7:p.Ile32Met SP substitution exon 1 VAR_014074 Q9HCQ7:p.Asp42Gly SP substitution exon 1 VAR_014075 Q13424:p.Leu364Phe SP substitution exon 1 VAR_014076 Q13425:p.Asp424Glu SP substitution exon 1 VAR_014077 P31327:p.His337Arg SP substitution exon 1 VAR_014078 Q9P2E3:p.Leu864Val SP substitution exon 1 VAR_014079 Q9P2E3:p.Thr910Ala SP substitution exon 1 VAR_014080 Q9P2E3:p.Gln924His SP substitution exon 1 VAR_014081 Q9P2E3:p.Thr1351Ile SP substitution exon 1 VAR_014082 O43156:p.Ala671Val SP substitution exon 1 VAR_014083 O43156:p.Ala979Thr SP substitution exon 1 VAR_014091 Q9GZX7:p.Arg25Cys SP substitution exon 1 VAR_014094 P17302:p.Asp124Glu SP substitution exon 1 VAR_014095 P17302:p.Arg148Gln SP substitution exon 1 VAR_014096 P17302:p.Ala168Thr SP substitution exon 1 VAR_014097 P17302:p.Tyr185His SP substitution exon 1 VAR_014098 P17302:p.Arg202Cys SP substitution exon 1 VAR_014099 P17302:p.Thr204Met SP substitution exon 1 VAR_014100 P17302:p.Arg239Trp SP substitution exon 1 VAR_014101 P17302:p.Pro283Leu SP substitution exon 1 VAR_014103 Q9HC21:p.Gly177Ala SP substitution exon 1 VAR_014104 Q96P20:p.Arg262Trp SP substitution exon 1 VAR_014105 Q96P20:p.Asp305Asn SP substitution exon 1 VAR_014106 Q96P20:p.Phe311Ser SP substitution exon 1 VAR_014107 Q96P20:p.Gly571Arg SP substitution exon 1 VAR_014108 Q96P20:p.Phe575Ser SP substitution exon 1 VAR_014109 P12724:p.Arg72Cys SP substitution exon 1 VAR_014110 Q16635:p.Arg94Ser SP substitution exon 1 VAR_014111 Q16635:p.Cys118Arg SP substitution exon 1 VAR_014112 Q16635:p.Gly197Arg SP substitution exon 1 VAR_014113 O43795:p.Glu969Lys SP substitution exon 1 VAR_014114 P02649:p.Gln64His SP substitution exon 1 VAR_014115 Q9BX26:p.Pro523Leu SP substitution exon 1 VAR_014116 P07225:p.Gly482Cys SP substitution exon 1 VAR_014117 P07225:p.Tyr485Cys SP substitution exon 1 VAR_014122 P98160:p.Cys1532Tyr SP substitution exon 1 VAR_014123 Q9HC84:p.Ser5196Thr SP substitution exon 1 VAR_014124 Q96P20:p.Leu307Pro SP substitution exon 1 VAR_014125 Q8TDI8:p.Asp572Asn SP substitution exon 1 VAR_014127 P60602:p.Ala28Pro SP substitution exon 1 VAR_014128 Q9HDC9:p.Ile65Val SP substitution exon 1 VAR_014129 Q9Y467:p.Ser75Cys SP substitution exon 1 VAR_014130 Q9Y467:p.Pro122Ser SP substitution exon 1 VAR_014131 Q9Y467:p.Gly746Arg SP substitution exon 1 VAR_014132 Q9BXA9:p.Leu593Val SP substitution exon 1 VAR_014133 P20273:p.Ala34Thr SP substitution exon 1 VAR_014134 P20273:p.Glu203Lys SP substitution exon 1 VAR_014135 P20273:p.Tyr639His SP substitution exon 1 VAR_014136 Q9BZZ2:p.Lys239Arg SP substitution exon 1 VAR_014137 Q9BZZ2:p.His919Pro SP substitution exon 1 VAR_014138 Q9BZZ2:p.Ala1519Pro SP substitution exon 1 VAR_014139 Q96NY7:p.Asp632Gly SP substitution exon 1 VAR_014140 P04150:p.Arg23Lys SP substitution exon 1 VAR_014141 P22413:p.Leu91Pro SP substitution exon 1 VAR_014142 P22413:p.Tyr268His SP substitution exon 1 VAR_014143 P22413:p.Ser287Phe SP substitution exon 1 VAR_014144 P22413:p.Thr779Pro SP substitution exon 1 VAR_014145 P15538:p.Cys10Tyr SP substitution exon 1 VAR_014146 P15538:p.Arg43Gln SP substitution exon 1 VAR_014147 P15538:p.Met160Ile SP substitution exon 1 VAR_014148 P15538:p.Leu293Val SP substitution exon 1 VAR_014149 P15538:p.Ala348Thr SP substitution exon 1 VAR_014150 P15538:p.Ala386Val SP substitution exon 1 VAR_014151 P19099:p.Ala29Thr SP substitution exon 1 VAR_014152 P19099:p.Arg30Gln SP substitution exon 1 VAR_014153 P19099:p.Ile248Thr SP substitution exon 1 VAR_014154 P19099:p.Asn281Ser SP substitution exon 1 VAR_014155 P19099:p.Ile339Thr SP substitution exon 1 VAR_014156 P19099:p.Gly435Ser SP substitution exon 1 VAR_014157 P24557:p.Arg60His SP substitution exon 1 VAR_014158 P24557:p.Leu162Ile SP substitution exon 1 VAR_014159 P24557:p.Ile331Thr SP substitution exon 1 VAR_014160 P24557:p.Arg424Cys SP substitution exon 1 VAR_014161 P24557:p.Ala429Thr SP substitution exon 1 VAR_014162 P00742:p.Leu7Ile SP substitution exon 1 VAR_014163 P00742:p.Gln30His SP substitution exon 1 VAR_014164 P20151:p.Val18Leu SP substitution exon 1 VAR_014165 P28566:p.Ser262Phe SP substitution exon 1 VAR_014166 P13945:p.Thr265Met SP substitution exon 1 VAR_014167 P25116:p.Ser166Gly SP substitution exon 1 VAR_014168 P02671:p.Lys446Glu SP substitution exon 1 VAR_014169 P02675:p.Lys2Glu SP substitution exon 1 VAR_014170 P02679:p.Gly191Arg SP substitution exon 1 VAR_014171 P02679:p.Met410Val SP substitution exon 1 VAR_014172 P17677:p.Val59Ile SP substitution exon 1 VAR_014173 P05120:p.Arg229His SP substitution exon 1 VAR_014174 P14060:p.Ile79Val SP substitution exon 1 VAR_014175 P14060:p.Phe286Leu SP substitution exon 1 VAR_014176 P08514:p.Thr40Ile SP substitution exon 1 VAR_014177 P08514:p.Tyr968Asn SP substitution exon 1 VAR_014178 P05106:p.Val453Ile SP substitution exon 1 VAR_014179 P11150:p.Ser440Asn SP substitution exon 1 VAR_014180 Q01959:p.Arg237Gln SP substitution exon 1 VAR_014181 P31645:p.Gly56Ala SP substitution exon 1 VAR_014182 P31645:p.Lys605Asn SP substitution exon 1 VAR_014183 P02654:p.Ile16Met SP substitution exon 1 VAR_014186 P05362:p.Gly241Arg SP substitution exon 1 VAR_014187 P05362:p.Lys469Glu SP substitution exon 1 VAR_014189 P12821:p.Ile1018Thr SP substitution exon 1 VAR_014190 P12821:p.Phe1051Val SP substitution exon 1 VAR_014191 P12821:p.Arg1279Gln SP substitution exon 1 VAR_014192 P12821:p.Gln1296Pro SP substitution exon 1 VAR_014197 Q9H1R3:p.Ala87Val SP substitution exon 1 VAR_014198 Q9H1R3:p.Ala95Glu SP substitution exon 1 VAR_014199 P12883:p.Glu743Asp SP substitution exon 1 VAR_014200 Q9BQ31:p.Thr450Ala SP substitution exon 1 VAR_014201 O60296:p.Val142Ile SP substitution exon 1 VAR_014204 Q14790:p.Arg248Trp SP substitution exon 1 VAR_014208 P46734:p.Arg175Trp SP substitution exon 1 VAR_014209 P46734:p.Leu215Val SP substitution exon 1 VAR_014210 Q9Y6P5:p.Leu44Ile SP substitution exon 1 VAR_014211 Q9H427:p.Gly95Glu SP substitution exon 1 VAR_014212 Q9H427:p.Pro260Thr SP substitution exon 1 VAR_014213 Q9H427:p.Pro261His SP substitution exon 1 VAR_014214 Q9H427:p.Pro323Leu SP substitution exon 1 VAR_014215 P05067:p.Glu693Gly SP substitution exon 1 VAR_014216 P05067:p.Glu693Lys SP substitution exon 1 VAR_014217 P05067:p.Asp694Asn SP substitution exon 1 VAR_014218 P05067:p.Thr714Ile SP substitution exon 1 VAR_014219 P05067:p.Val717Leu SP substitution exon 1 VAR_014220 Q02809:p.Ala99Thr SP substitution exon 1 VAR_014221 Q13214:p.Arg348Cys SP substitution exon 1 VAR_014222 Q13214:p.Asp397His SP substitution exon 1 VAR_014224 Q93015:p.Arg145Ser SP substitution exon 1 VAR_014225 Q93015:p.Thr207Ser SP substitution exon 1 VAR_014226 P78332:p.Ser353Phe SP substitution exon 1 VAR_014227 O75800:p.Arg407Gln SP substitution exon 1 VAR_014229 Q96QB1:p.Asn712Ser SP substitution exon 1 VAR_014230 Q96QB1:p.Val791Met SP substitution exon 1 VAR_014231 Q96QB1:p.Thr959Ala SP substitution exon 1 VAR_014232 Q96QB1:p.His998Gln SP substitution exon 1 VAR_014236 P49675:p.Glu169Gly SP substitution exon 1 VAR_014237 P49675:p.Glu169Lys SP substitution exon 1 VAR_014238 P49675:p.Arg217Thr SP substitution exon 1 VAR_014239 P49675:p.Ala218Val SP substitution exon 1 VAR_014240 P49675:p.Met225Thr SP substitution exon 1 VAR_014242 P49675:p.Leu275Pro SP substitution exon 1 VAR_014243 Q9NZR4:p.Asp144Glu SP substitution exon 1 VAR_014244 Q9NZR4:p.Leu159Met SP substitution exon 1 VAR_014245 Q9NZR4:p.Gly160Asp SP substitution exon 1 VAR_014246 Q9NZR4:p.Arg166Trp SP substitution exon 1 VAR_014247 Q9NZR4:p.His244Arg SP substitution exon 1 VAR_014248 Q9NZR4:p.Pro247Arg SP substitution exon 1 VAR_014249 O15389:p.Val72Ala SP substitution exon 1 VAR_014250 O15389:p.Met215Val SP substitution exon 1 VAR_014251 O15389:p.Phe322Ser SP substitution exon 1 VAR_014252 O43699:p.Leu57Val SP substitution exon 1 VAR_014253 O43699:p.Leu262Phe SP substitution exon 1 VAR_014254 Q9Y336:p.Lys100Glu SP substitution exon 1 VAR_014255 Q9Y336:p.Ser125Asn SP substitution exon 1 VAR_014256 Q9Y336:p.Asn147Lys SP substitution exon 1 VAR_014257 Q9Y336:p.Ala315Glu SP substitution exon 1 VAR_014258 Q9Y336:p.Ala316Asp SP substitution exon 1 VAR_014259 Q96PQ1:p.Pro81Thr SP substitution exon 1 VAR_014260 Q9NZH6:p.Gly31Val SP substitution exon 1 VAR_014261 Q9NZH6:p.Thr42Ala SP substitution exon 1 VAR_014262 Q8WWZ1:p.Ile44Thr SP substitution exon 1 VAR_014263 Q8WWZ1:p.Ala51Asp SP substitution exon 1 VAR_014264 P04156:p.Gly131Val SP substitution exon 1 VAR_014265 P18507:p.Arg82Gln SP substitution exon 1 VAR_014266 P18507:p.Lys328Met SP substitution exon 1 VAR_014267 P35498:p.Asp188Val SP substitution exon 1 VAR_014268 P35498:p.Leu986Phe SP substitution exon 1 VAR_014269 P35498:p.Ala1067Thr SP substitution exon 1 VAR_014270 P35498:p.Trp1204Arg SP substitution exon 1 VAR_014271 P35498:p.Lys1270Thr SP substitution exon 1 VAR_014272 P35498:p.Val1353Leu SP substitution exon 1 VAR_014273 P35498:p.Ile1656Met SP substitution exon 1 VAR_014274 Q8TCT9:p.Ala259Pro SP substitution exon 1 VAR_014277 P02042:p.Cys94Gly SP substitution exon 1 VAR_014278 P02042:p.His147Arg SP substitution exon 1 VAR_014279 O95631:p.Arg351His SP substitution exon 1 VAR_014280 O95631:p.Lys489Glu SP substitution exon 1 VAR_014281 O60216:p.Gly481Arg SP substitution exon 1 VAR_014282 Q9NS82:p.Glu112Asp SP substitution exon 1 VAR_014283 Q15256:p.Lys314Arg SP substitution exon 1 VAR_014284 Q15047:p.Asn236Ser SP substitution exon 1 VAR_014287 Q8TEK3:p.Leu726Met SP substitution exon 1 VAR_014290 P02768:p.Glu121Gly SP substitution exon 1 VAR_014291 P02768:p.Ala215Thr SP substitution exon 1 VAR_014292 P02768:p.Ala215Val SP substitution exon 1 VAR_014293 P02768:p.Gln220Leu SP substitution exon 1 VAR_014294 P02768:p.Glu420Lys SP substitution exon 1 VAR_014295 P02768:p.Lys490Glu SP substitution exon 1 VAR_014296 Q9NPC4:p.Met37Val SP substitution exon 1 VAR_014297 Q9NPC4:p.Met183Lys SP substitution exon 1 VAR_014298 P13726:p.Thr36Ala SP substitution exon 1 VAR_014299 P13726:p.Ile145Val SP substitution exon 1 VAR_014300 P16581:p.Ala21Ser SP substitution exon 1 VAR_014301 P16581:p.Met31Ile SP substitution exon 1 VAR_014302 P16581:p.Gln257Pro SP substitution exon 1 VAR_014303 P16581:p.Pro550Ser SP substitution exon 1 VAR_014304 P01583:p.Arg85Gln SP substitution exon 1 VAR_014305 P01583:p.Ala114Ser SP substitution exon 1 VAR_014306 P01583:p.Asp138Asn SP substitution exon 1 VAR_014307 P35249:p.Val292Ala SP substitution exon 1 VAR_014308 P00740:p.Thr461Pro SP substitution exon 1 VAR_014309 P19320:p.Ser318Phe SP substitution exon 1 VAR_014310 P19320:p.Thr384Ala SP substitution exon 1 VAR_014311 P19320:p.Gly413Ala SP substitution exon 1 VAR_014312 P19320:p.Ile716Leu SP substitution exon 1 VAR_014313 P59103:p.Arg30Lys SP substitution exon 1 VAR_014314 P23141:p.Ser75Asn SP substitution exon 1 VAR_014316 Q9H171:p.Glu88Lys SP substitution exon 1 VAR_014317 P51589:p.Thr143Ala SP substitution exon 1 VAR_014318 P51589:p.Arg158Cys SP substitution exon 1 VAR_014319 P51589:p.Ile192Asn SP substitution exon 1 VAR_014320 P51589:p.Asp342Asn SP substitution exon 1 VAR_014321 P51589:p.Asn404Tyr SP substitution exon 1 VAR_014322 P08684:p.Phe189Ser SP substitution exon 1 VAR_014323 P08684:p.Leu293Pro SP substitution exon 1 VAR_014325 Q99062:p.Met231Thr SP substitution exon 1 VAR_014326 Q99062:p.Asp320Asn SP substitution exon 1 VAR_014327 Q99062:p.Gln346Arg SP substitution exon 1 VAR_014328 Q99062:p.Glu405Lys SP substitution exon 1 VAR_014329 Q99062:p.Arg440Gln SP substitution exon 1 VAR_014330 Q99062:p.Asp510His SP substitution exon 1 VAR_014331 Q99062:p.Tyr562His SP substitution exon 1 VAR_014332 Q99062:p.Arg583Cys SP substitution exon 1 VAR_014333 Q16589:p.Leu4Val SP substitution exon 1 VAR_014334 Q16589:p.Glu28Gly SP substitution exon 1 VAR_014335 Q15582:p.Ile200Phe SP substitution exon 1 VAR_014336 P00748:p.Ala207Pro SP substitution exon 1 VAR_014337 P00748:p.Gly545Asp SP substitution exon 1 VAR_014338 P00748:p.Tyr605His SP substitution exon 1 VAR_014339 P41597:p.Val64Ile SP substitution exon 1 VAR_014340 P41597:p.Gly355Glu SP substitution exon 1 VAR_014345 P32780:p.Arg234Trp SP substitution exon 1 VAR_014346 P32780:p.Ser285Phe SP substitution exon 1 VAR_014348 Q15329:p.Gly18Ala SP substitution exon 1 VAR_014349 P49848:p.Cys36Ser SP substitution exon 1 VAR_014350 P54727:p.Ala249Val SP substitution exon 1 VAR_014351 P07585:p.Thr268Met SP substitution exon 1 VAR_014352 Q8TD46:p.Arg89Lys SP substitution exon 1 VAR_014353 Q8TD46:p.Pro121Thr SP substitution exon 1 VAR_014354 Q8TD46:p.Gln177His SP substitution exon 1 VAR_014355 Q8N0Y7:p.Arg40Cys SP substitution exon 1 VAR_014356 Q8N0Y7:p.Arg90Gln SP substitution exon 1 VAR_014357 Q8N0Y7:p.Ile175Thr SP substitution exon 1 VAR_014359 P46663:p.Ala250Val SP substitution exon 1 VAR_014360 Q9HBE5:p.Arg191Cys SP substitution exon 1 VAR_014361 Q9HBE5:p.Ser318Arg SP substitution exon 1 VAR_014362 Q9HBE5:p.Gly484Ser SP substitution exon 1 VAR_014363 P82251:p.Ile44Thr SP substitution exon 1 VAR_014364 P82251:p.Pro261Leu SP substitution exon 1 VAR_014365 P82251:p.Ala354Thr SP substitution exon 1 VAR_014366 Q96P20:p.Thr350Met SP substitution exon 1 VAR_014367 Q96P20:p.His360Arg SP substitution exon 1 VAR_014368 Q96P20:p.Thr438Asn SP substitution exon 1 VAR_014369 Q96P20:p.Ala441Thr SP substitution exon 1 VAR_014370 Q96P20:p.Met664Thr SP substitution exon 1 VAR_014371 Q12809:p.Thr65Pro SP substitution exon 1 VAR_014373 Q12809:p.Pro451Leu SP substitution exon 1 VAR_014374 Q12809:p.Ala561Thr SP substitution exon 1 VAR_014375 Q12809:p.Leu615Val SP substitution exon 1 VAR_014376 Q12809:p.Gly626Ser SP substitution exon 1 VAR_014377 Q12809:p.Phe627Leu SP substitution exon 1 VAR_014378 Q12809:p.Pro632Ser SP substitution exon 1 VAR_014379 Q12809:p.Glu637Lys SP substitution exon 1 VAR_014380 Q12809:p.Lys638Glu SP substitution exon 1 VAR_014382 Q12809:p.Met645Leu SP substitution exon 1 VAR_014383 Q12809:p.Arg752Trp SP substitution exon 1 VAR_014384 Q12809:p.Phe805Cys SP substitution exon 1 VAR_014385 Q12809:p.Phe805Ser SP substitution exon 1 VAR_014386 Q12809:p.Arg823Trp SP substitution exon 1 VAR_014387 Q12809:p.Asn861Ile SP substitution exon 1 VAR_014391 P08709:p.Leu13Pro SP substitution exon 1 VAR_014392 P08709:p.Cys389Gly SP substitution exon 1 VAR_014401 Q9UJQ1:p.Asp12Gly SP substitution exon 1 VAR_014402 Q9UJQ1:p.Ile81Val SP substitution exon 1 VAR_014403 Q9UJQ1:p.Gln103Glu SP substitution exon 1 VAR_014404 Q9UJQ1:p.Ser158Gly SP substitution exon 1 VAR_014405 P08709:p.Leu73Gln SP substitution exon 1 VAR_014406 P08709:p.Glu79Gln SP substitution exon 1 VAR_014407 P08709:p.Cys121Phe SP substitution exon 1 VAR_014408 P08709:p.Leu125Pro SP substitution exon 1 VAR_014409 P08709:p.Tyr128Cys SP substitution exon 1 VAR_014410 P08709:p.Cys151Ser SP substitution exon 1 VAR_014411 P08709:p.Gly157Val SP substitution exon 1 VAR_014412 P08709:p.Cys195Arg SP substitution exon 1 VAR_014413 P08709:p.Thr241Asn SP substitution exon 1 VAR_014414 P08709:p.Asp302His SP substitution exon 1 VAR_014415 P08709:p.Asp302Asn SP substitution exon 1 VAR_014416 P08709:p.Ala304Thr SP substitution exon 1 VAR_014417 P08709:p.Arg307Cys SP substitution exon 1 VAR_014418 P08709:p.Thr332Met SP substitution exon 1 VAR_014419 P08709:p.Gly391Ser SP substitution exon 1 VAR_014420 P08709:p.Gly435Glu SP substitution exon 1 VAR_014421 P32004:p.Val752Met SP substitution exon 1 VAR_014422 O43918:p.Gly228Trp SP substitution exon 1 VAR_014423 O75845:p.Arg29Gln SP substitution exon 1 VAR_014424 O75845:p.Gly211Asp SP substitution exon 1 VAR_014426 P00748:p.Tyr53Cys SP substitution exon 1 VAR_014427 Q96S44:p.Ala25Thr SP substitution exon 1 VAR_014428 Q09472:p.Leu827Pro SP substitution exon 1 VAR_014429 Q09472:p.Glu1013Gly SP substitution exon 1 VAR_014430 Q09472:p.Ser1650Tyr SP substitution exon 1 VAR_014431 Q09472:p.Pro2221Gln SP substitution exon 1 VAR_014432 Q9Y4G6:p.Ala1148Ser SP substitution exon 1 VAR_014433 Q9Y4G6:p.Phe2266Leu SP substitution exon 1 VAR_014434 O60296:p.Thr528Ile SP substitution exon 1 VAR_014435 P17655:p.Asp22Glu SP substitution exon 1 VAR_014436 P17655:p.Lys568Gln SP substitution exon 1 VAR_014437 Q9HC96:p.Pro200Thr SP substitution exon 1 VAR_014438 Q9HC96:p.Arg202His SP substitution exon 1 VAR_014439 Q9HC96:p.Ala341Val SP substitution exon 1 VAR_014444 O00213:p.Met327Val SP substitution exon 1 VAR_014445 O00213:p.Asn396Ser SP substitution exon 1 VAR_014446 O00222:p.Ser10Cys SP substitution exon 1 VAR_014447 O00222:p.Phe21Cys SP substitution exon 1 VAR_014448 O00222:p.Arg392Gln SP substitution exon 1 VAR_014449 O00222:p.Val548Gly SP substitution exon 1 VAR_014450 P41180:p.Ala986Ser SP substitution exon 1 VAR_014451 P41180:p.Gln1011Glu SP substitution exon 1 VAR_014452 O00303:p.Trp172Leu SP substitution exon 1 VAR_014453 P52292:p.Thr430Pro SP substitution exon 1 VAR_014454 O00505:p.Pro291Ser SP substitution exon 1 VAR_014455 Q92973:p.Asp34Glu SP substitution exon 1 VAR_014456 O00555:p.Ala21Val SP substitution exon 1 VAR_014458 O00555:p.Pro914Ser SP substitution exon 1 VAR_014459 O00555:p.Glu918Asp SP substitution exon 1 VAR_014461 O00555:p.Glu1015Lys SP substitution exon 1 VAR_014462 O00555:p.Gly1105Ser SP substitution exon 1 VAR_014463 O00555:p.Pro2394Ser SP substitution exon 1 VAR_014464 Q14524:p.Pro1090Leu SP substitution exon 1 VAR_014465 P51800:p.Ala447Thr SP substitution exon 1 VAR_014466 P51801:p.Ser88Arg SP substitution exon 1 VAR_014467 P51801:p.Asn143His SP substitution exon 1 VAR_014468 P51801:p.Val334Leu SP substitution exon 1 VAR_014469 P51801:p.Met562Thr SP substitution exon 1 VAR_014472 O14593:p.Gln251Glu SP substitution exon 1 VAR_014473 O14645:p.Ala65Val SP substitution exon 1 VAR_014474 P34820:p.His293Arg SP substitution exon 1 VAR_014475 O14793:p.Ala55Thr SP substitution exon 1 VAR_014476 O14793:p.Lys153Arg SP substitution exon 1 VAR_014477 O15143:p.Lys37Asn SP substitution exon 1 VAR_014479 Q12788:p.Ser457Pro SP substitution exon 1 VAR_014480 P49821:p.Ile76Val SP substitution exon 1 VAR_014481 P49821:p.Asn277Tyr SP substitution exon 1 VAR_014482 O75251:p.Pro23Leu SP substitution exon 1 VAR_014483 P56556:p.Ala35Val SP substitution exon 1 VAR_014484 Q9Y6M9:p.Pro146Ser SP substitution exon 1 VAR_014485 O15239:p.Gly32Arg SP substitution exon 1 VAR_014486 O95298:p.Leu46Val SP substitution exon 1 VAR_014487 O15527:p.Arg229Gln SP substitution exon 1 VAR_014488 O15527:p.Ser320Thr SP substitution exon 1 VAR_014489 P30260:p.Tyr496His SP substitution exon 1 VAR_014490 P09913:p.Asp352Glu SP substitution exon 1 VAR_014491 P53804:p.Phe1117Leu SP substitution exon 1 VAR_014492 O15550:p.Ala30Thr SP substitution exon 1 VAR_014493 O15550:p.Gln497His SP substitution exon 1 VAR_014494 O43657:p.Ala108Thr SP substitution exon 1 VAR_014495 P09210:p.Pro110Ser SP substitution exon 1 VAR_014496 P09210:p.Val149Ala SP substitution exon 1 VAR_014497 P09488:p.Ser210Thr SP substitution exon 1 VAR_014499 P09211:p.Ile105Val SP substitution exon 1 VAR_014500 P09211:p.Ala114Val SP substitution exon 1 VAR_014501 P30711:p.Ala21Thr SP substitution exon 1 VAR_014505 O43708:p.Asn133His SP substitution exon 1 VAR_014506 O43731:p.Val199Gly SP substitution exon 1 VAR_014507 Q13415:p.Arg19Ser SP substitution exon 1 VAR_014508 Q13415:p.Gln180His SP substitution exon 1 VAR_014509 Q13415:p.Val190Met SP substitution exon 1 VAR_014510 Q13415:p.Ala372Val SP substitution exon 1 VAR_014511 Q13415:p.Arg441Met SP substitution exon 1 VAR_014512 Q13415:p.Lys456Glu SP substitution exon 1 VAR_014513 Q13415:p.Thr466Met SP substitution exon 1 VAR_014514 Q13415:p.Cys469Tyr SP substitution exon 1 VAR_014515 Q13416:p.Met106Lys SP substitution exon 1 VAR_014516 Q9UBD5:p.Gln94Lys SP substitution exon 1 VAR_014517 Q9UBD5:p.Gln126Arg SP substitution exon 1 VAR_014518 Q9UBD5:p.Val217Ile SP substitution exon 1 VAR_014519 Q9UBD5:p.Ile247Val SP substitution exon 1 VAR_014520 Q9UBD5:p.Thr287Met SP substitution exon 1 VAR_014521 Q9UBD5:p.Thr389Pro SP substitution exon 1 VAR_014523 O43929:p.Leu56Val SP substitution exon 1 VAR_014524 O43913:p.Lys52Asn SP substitution exon 1 VAR_014525 O43913:p.Arg166Cys SP substitution exon 1 VAR_014526 P56378:p.Ile9Val SP substitution exon 1 VAR_014527 O60676:p.Ala142Pro SP substitution exon 1 VAR_014528 P04196:p.Pro204Ser SP substitution exon 1 VAR_014529 O60925:p.Met67Arg SP substitution exon 1 VAR_014530 Q99626:p.Pro293Ser SP substitution exon 1 VAR_014531 O75360:p.Ala142Thr SP substitution exon 1 VAR_014532 O75683:p.Arg163Trp SP substitution exon 1 VAR_014533 O75683:p.Thr175Met SP substitution exon 1 VAR_014534 O75683:p.Thr311Met SP substitution exon 1 VAR_014535 O75695:p.Arg282Trp SP substitution exon 1 VAR_014536 O75695:p.Asp338Tyr SP substitution exon 1 VAR_014537 O75880:p.Pro58Ser SP substitution exon 1 VAR_014538 O95471:p.Val197Ala SP substitution exon 1 VAR_014539 O95711:p.Met160Val SP substitution exon 1 VAR_014540 P63000:p.Asn26Asp SP substitution exon 1 VAR_014541 P63000:p.Phe28Leu SP substitution exon 1 VAR_014542 P63000:p.Ala59Thr SP substitution exon 1 VAR_014543 P63000:p.Asp63Gly SP substitution exon 1 VAR_014544 P63000:p.Val93Ile SP substitution exon 1 VAR_014545 P63000:p.Val93Gly SP substitution exon 1 VAR_014546 P63000:p.Thr108Ile SP substitution exon 1 VAR_014547 P63000:p.Lys130Arg SP substitution exon 1 VAR_014548 P63000:p.Lys133Glu SP substitution exon 1 VAR_014554 P00390:p.Pro314His SP substitution exon 1 VAR_014555 P09622:p.Leu331Val SP substitution exon 1 VAR_014556 P20718:p.Arg84Gln SP substitution exon 1 VAR_014557 Q15661:p.Ala18Val SP substitution exon 1 VAR_014558 Q15661:p.Gly23Val SP substitution exon 1 VAR_014559 Q15661:p.Ala85Thr SP substitution exon 1 VAR_014560 Q15661:p.Thr141Ala SP substitution exon 1 VAR_014561 Q15661:p.Asp162Asn SP substitution exon 1 VAR_014562 Q15661:p.Pro170Ser SP substitution exon 1 VAR_014563 Q15661:p.Thr215Ser SP substitution exon 1 VAR_014564 Q15661:p.Arg216Gln SP substitution exon 1 VAR_014565 P09871:p.Arg383His SP substitution exon 1 VAR_014566 P17538:p.Thr250Ala SP substitution exon 1 VAR_014567 P06870:p.Arg77His SP substitution exon 1 VAR_014568 P06870:p.Val193Glu SP substitution exon 1 VAR_014569 P26927:p.Glu676Lys SP substitution exon 1 VAR_014570 P14210:p.Ser153Ile SP substitution exon 1 VAR_014571 P00739:p.His339Asp SP substitution exon 1 VAR_014573 P01019:p.Leu392Met SP substitution exon 1 VAR_014574 P01031:p.Val802Ile SP substitution exon 1 VAR_014578 P01127:p.Ile88Val SP substitution exon 1 VAR_014579 P01160:p.Val32Met SP substitution exon 1 VAR_014580 P16860:p.Arg25Leu SP substitution exon 1 VAR_014581 P16860:p.Arg47His SP substitution exon 1 VAR_014582 P16860:p.Met93Leu SP substitution exon 1 VAR_014583 P23582:p.Arg82Gln SP substitution exon 1 VAR_014584 P01210:p.Gly247Asp SP substitution exon 1 VAR_014585 P01233:p.Phe4Leu SP substitution exon 1 VAR_014586 P01233:p.Lys22Arg SP substitution exon 1 VAR_014587 P01233:p.Thr35Ile SP substitution exon 1 VAR_014588 P01233:p.Asn97Asp SP substitution exon 1 VAR_014589 P01229:p.Trp28Arg SP substitution exon 1 VAR_014590 P01229:p.Ile35Thr SP substitution exon 1 VAR_014591 P01242:p.Arg90Trp SP substitution exon 1 VAR_014592 P01258:p.Asn57Asp SP substitution exon 1 VAR_014593 P01258:p.Ser76Arg SP substitution exon 1 VAR_014594 P23141:p.Arg199His SP substitution exon 1 VAR_014595 P23141:p.Asp203Glu SP substitution exon 1 VAR_014596 P01275:p.Ala115Val SP substitution exon 1 VAR_014597 P18509:p.Asp54Gly SP substitution exon 1 VAR_014598 P01303:p.Leu7Pro SP substitution exon 1 VAR_014599 P01303:p.Leu22Met SP substitution exon 1 VAR_014600 P01583:p.Asn125Asp SP substitution exon 1 VAR_014601 P01583:p.Asp176His SP substitution exon 1 VAR_014605 P69905:p.Val11Phe SP substitution exon 1 VAR_014606 P61927:p.Gly81Glu SP substitution exon 1 VAR_014607 P02511:p.Ser41Tyr SP substitution exon 1 VAR_014608 P02511:p.Pro51Leu SP substitution exon 1 VAR_014609 P02647:p.Arg184Pro SP substitution exon 1 VAR_014610 P06727:p.Gly74Ser SP substitution exon 1 VAR_014611 P06727:p.Val307Leu SP substitution exon 1 VAR_014612 P02730:p.Asp38Ala SP substitution exon 1 VAR_014613 P02730:p.Arg112Ser SP substitution exon 1 VAR_014614 P02730:p.Ile442Phe SP substitution exon 1 VAR_014620 P19793:p.Pro261Leu SP substitution exon 1 VAR_014621 P19793:p.Ser336Ile SP substitution exon 1 VAR_014622 P04150:p.Phe65Val SP substitution exon 1 VAR_014627 P06401:p.Arg625Ile SP substitution exon 1 VAR_014628 P06401:p.Ser865Leu SP substitution exon 1 VAR_014629 P08727:p.Ala60Gly SP substitution exon 1 VAR_014630 P04275:p.Val1565Leu SP substitution exon 1 VAR_014632 P04637:p.Pro47Ser SP substitution exon 1 VAR_014634 Q16647:p.Glu154Ala SP substitution exon 1 VAR_014635 Q16647:p.Phe171Leu SP substitution exon 1 VAR_014636 Q16647:p.Arg236Cys SP substitution exon 1 VAR_014638 P15538:p.Asp63His SP substitution exon 1 VAR_014639 P15538:p.Lys173Arg SP substitution exon 1 VAR_014640 P15538:p.Phe257Leu SP substitution exon 1 VAR_014641 P15538:p.Ser281Asn SP substitution exon 1 VAR_014642 P15538:p.Tyr439His SP substitution exon 1 VAR_014643 P19099:p.Asn222Thr SP substitution exon 1 VAR_014644 P19099:p.Glu383Val SP substitution exon 1 VAR_014645 P19099:p.Val403Glu SP substitution exon 1 VAR_014646 P19099:p.Phe487Val SP substitution exon 1 VAR_014647 P24557:p.Lys257Glu SP substitution exon 1 VAR_014648 P24557:p.Arg260Gly SP substitution exon 1 VAR_014649 P24557:p.Gln316Lys SP substitution exon 1 VAR_014651 P05362:p.Lys155Asn SP substitution exon 1 VAR_014652 P05362:p.Val315Met SP substitution exon 1 VAR_014653 P05362:p.Pro352Leu SP substitution exon 1 VAR_014654 P05362:p.Arg397Gln SP substitution exon 1 VAR_014655 P13598:p.Ala37Thr SP substitution exon 1 VAR_014656 P13598:p.Arg199His SP substitution exon 1 VAR_014657 Q14324:p.Gly52Ser SP substitution exon 1 VAR_014658 Q14324:p.Val624Ile SP substitution exon 1 VAR_014659 Q14324:p.Arg1089His SP substitution exon 1 VAR_014660 Q07444:p.Arg135Ser SP substitution exon 1 VAR_014661 P06241:p.Ile445Phe SP substitution exon 1 VAR_014662 P07148:p.Ala54Thr SP substitution exon 1 VAR_014664 P35556:p.Ser2771Pro SP substitution exon 1 VAR_014665 P24821:p.Glu2008Gln SP substitution exon 1 VAR_014666 P07225:p.Thr78Met SP substitution exon 1 VAR_014667 P19652:p.Arg38Gln SP substitution exon 1 VAR_014668 P07360:p.Arg69Gln SP substitution exon 1 VAR_014669 P07360:p.His124Asn SP substitution exon 1 VAR_014670 P21728:p.Thr37Pro SP substitution exon 1 VAR_014671 P21728:p.Thr37Arg SP substitution exon 1 VAR_014672 P21728:p.Arg50Ser SP substitution exon 1 VAR_014673 P21728:p.Ser199Ala SP substitution exon 1 VAR_014675 P24530:p.Leu7Gln SP substitution exon 1 VAR_014676 P24530:p.Leu17Phe SP substitution exon 1 VAR_014677 P24530:p.Phe112Val SP substitution exon 1 VAR_014678 P24530:p.Thr244Met SP substitution exon 1 VAR_014679 P25025:p.Arg80Cys SP substitution exon 1 VAR_014680 P21452:p.Arg375His SP substitution exon 1 VAR_014681 P25929:p.Lys374Thr SP substitution exon 1 VAR_014682 P47211:p.Ser334Asn SP substitution exon 1 VAR_014683 P47211:p.Pro342Leu SP substitution exon 1 VAR_014684 P32239:p.Leu37Phe SP substitution exon 1 VAR_014685 P32239:p.Val125Ile SP substitution exon 1 VAR_014686 P32239:p.Arg215His SP substitution exon 1 VAR_014687 P32239:p.Arg319Gln SP substitution exon 1 VAR_014688 P21731:p.Cys68Ser SP substitution exon 1 VAR_014689 P21731:p.Val80Glu SP substitution exon 1 VAR_014690 P21731:p.Glu94Val SP substitution exon 1 VAR_014691 P21731:p.Ala160Thr SP substitution exon 1 VAR_014692 P21731:p.Val176Glu SP substitution exon 1 VAR_014693 P21731:p.Val217Ile SP substitution exon 1 VAR_014694 P43115:p.Met169Leu SP substitution exon 1 VAR_014695 P43115:p.Pro375Leu SP substitution exon 1 VAR_014696 P07858:p.Ser235Asn SP substitution exon 1 VAR_014697 Q92820:p.Cys6Arg SP substitution exon 1 VAR_014698 P07942:p.Val670Ala SP substitution exon 1 VAR_014699 P07942:p.Gln1022Arg SP substitution exon 1 VAR_014700 P11047:p.Ile458Val SP substitution exon 1 VAR_014701 P11047:p.Leu888Pro SP substitution exon 1 VAR_014702 P11047:p.Arg1121Gln SP substitution exon 1 VAR_014703 P78363:p.Ser752Ile SP substitution exon 1 VAR_014704 P08183:p.Asn21Asp SP substitution exon 1 VAR_014705 P08294:p.Arg231Gly SP substitution exon 1 VAR_014706 P09172:p.Glu181Gln SP substitution exon 1 VAR_014707 P09172:p.Lys239Asn SP substitution exon 1 VAR_014708 P09172:p.Glu250Gln SP substitution exon 1 VAR_014709 P09172:p.Asp290Asn SP substitution exon 1 VAR_014710 P09172:p.Leu317Pro SP substitution exon 1 VAR_014711 P09651:p.Asn73Ser SP substitution exon 1 VAR_014712 Q00839:p.Phe712Leu SP substitution exon 1 VAR_014713 Q13243:p.Ala160Ser SP substitution exon 1 VAR_014714 P09874:p.Ala188Thr SP substitution exon 1 VAR_014715 P09874:p.Val762Ala SP substitution exon 1 VAR_014716 P10415:p.Ala43Thr SP substitution exon 1 VAR_014717 P10451:p.Arg301His SP substitution exon 1 VAR_014718 P11168:p.Val101Ile SP substitution exon 1 VAR_014719 P11168:p.Thr110Ile SP substitution exon 1 VAR_014721 P62424:p.Ala24Val SP substitution exon 1 VAR_014722 P11717:p.Asn2020Ser SP substitution exon 1 VAR_014723 P12955:p.Leu435Phe SP substitution exon 1 VAR_014724 P13010:p.Leu463Phe SP substitution exon 1 VAR_014725 Q07954:p.Ala217Val SP substitution exon 1 VAR_014726 P13489:p.Pro170Leu SP substitution exon 1 VAR_014727 P13807:p.Lys130Glu SP substitution exon 1 VAR_014728 P13807:p.Asn283Ser SP substitution exon 1 VAR_014729 P13807:p.Glu359Gly SP substitution exon 1 VAR_014730 P13807:p.Met416Val SP substitution exon 1 VAR_014731 P13807:p.Glu619Gln SP substitution exon 1 VAR_014732 P13807:p.Pro691Ala SP substitution exon 1 VAR_014733 P14209:p.Met166Val SP substitution exon 1 VAR_014734 P14209:p.Asn173Ile SP substitution exon 1 VAR_014735 P14598:p.Arg90His SP substitution exon 1 VAR_014736 P15144:p.Arg86Gln SP substitution exon 1 VAR_014737 P15144:p.Ser752Asn SP substitution exon 1 VAR_014742 P14780:p.Arg668Gln SP substitution exon 1 VAR_014743 P15121:p.Ile15Phe SP substitution exon 1 VAR_014744 P15121:p.His42Leu SP substitution exon 1 VAR_014745 P15121:p.Leu73Val SP substitution exon 1 VAR_014746 P15121:p.Gly204Ser SP substitution exon 1 VAR_014747 P15121:p.Thr288Ile SP substitution exon 1 VAR_014748 P52895:p.Leu172Gln SP substitution exon 1 VAR_014749 P45954:p.Ser209Gly SP substitution exon 1 VAR_014756 P16520:p.Asp76Asn SP substitution exon 1 VAR_014757 P16520:p.Gly272Ser SP substitution exon 1 VAR_014760 Q12882:p.Val732Ile SP substitution exon 1 VAR_014764 P17813:p.Asp366His SP substitution exon 1 VAR_014765 Q05315:p.Ala28Val SP substitution exon 1 VAR_014766 P19447:p.Lys117Arg SP substitution exon 1 VAR_014767 P19447:p.Gly402Cys SP substitution exon 1 VAR_014769 Q92889:p.Ala168Val SP substitution exon 1 VAR_014783 P19087:p.Gly183Asp SP substitution exon 1 VAR_014784 P19224:p.Thr181Ala SP substitution exon 1 VAR_014785 Q15527:p.Ser213Gly SP substitution exon 1 VAR_014786 P42167:p.Leu427Phe SP substitution exon 1 VAR_014787 P20396:p.Leu8Val SP substitution exon 1 VAR_014791 P20827:p.Asp159Val SP substitution exon 1 VAR_014793 P21128:p.Glu72Gln SP substitution exon 1 VAR_014794 P21128:p.Glu72Val SP substitution exon 1 VAR_014795 P21397:p.Phe314Val SP substitution exon 1 VAR_014797 P22455:p.Gly388Arg SP substitution exon 1 VAR_014798 P22760:p.Val281Ile SP substitution exon 1 VAR_014799 P23025:p.Arg228Gln SP substitution exon 1 VAR_014800 P23975:p.Val449Ile SP substitution exon 1 VAR_014801 P32927:p.Pro603Thr SP substitution exon 1 VAR_014802 P32927:p.Gly647Val SP substitution exon 1 VAR_014803 P32927:p.Val652Met SP substitution exon 1 VAR_014804 Q01113:p.Glu239Gln SP substitution exon 1 VAR_014805 Q99665:p.Ile185Val SP substitution exon 1 VAR_014806 Q99665:p.Gly420Arg SP substitution exon 1 VAR_014807 Q99665:p.Gln426His SP substitution exon 1 VAR_014808 Q99665:p.Gly465Asp SP substitution exon 1 VAR_014810 P25205:p.Ser105Gly SP substitution exon 1 VAR_014811 P25205:p.Asp280Val SP substitution exon 1 VAR_014812 P25205:p.Phe287Leu SP substitution exon 1 VAR_014813 P33992:p.Ser136Thr SP substitution exon 1 VAR_014814 P33992:p.Thr180Ser SP substitution exon 1 VAR_014815 P33992:p.Val258Ile SP substitution exon 1 VAR_014816 Q14566:p.Glu35Val SP substitution exon 1 VAR_014817 P33993:p.Gly473Ser SP substitution exon 1 VAR_014818 P26439:p.Glu94Gln SP substitution exon 1 VAR_014819 P27540:p.Asp511Asn SP substitution exon 1 VAR_014820 Q13562:p.Thr45Ala SP substitution exon 1 VAR_014821 Q15672:p.Ser31Gly SP substitution exon 1 VAR_014822 Q15672:p.Gly84Ser SP substitution exon 1 VAR_014823 P27695:p.Ile64Val SP substitution exon 1 VAR_014824 Q92664:p.Val245Leu SP substitution exon 1 VAR_014826 P28698:p.Ile331Val SP substitution exon 1 VAR_014827 Q9UIE0:p.Asp441Glu SP substitution exon 1 VAR_014828 Q14584:p.Pro519Leu SP substitution exon 1 VAR_014829 P28715:p.Ser311Cys SP substitution exon 1 VAR_014830 P28799:p.Gly515Ala SP substitution exon 1 VAR_014831 P29372:p.Pro64Leu SP substitution exon 1 VAR_014832 P29372:p.Tyr71His SP substitution exon 1 VAR_014833 P29372:p.Arg120Cys SP substitution exon 1 VAR_014834 P29372:p.Arg141Gln SP substitution exon 1 VAR_014837 P47871:p.Pro114Ala SP substitution exon 1 VAR_014838 P31358:p.Ile41Met SP substitution exon 1 VAR_014840 Q99518:p.Asp36Gly SP substitution exon 1 VAR_014841 Q99518:p.Phe81Ser SP substitution exon 1 VAR_014842 Q99518:p.Phe182Ser SP substitution exon 1 VAR_014843 Q99518:p.Ser195Leu SP substitution exon 1 VAR_014845 P31513:p.Val277Ala SP substitution exon 1 VAR_014846 P31513:p.Glu362Gln SP substitution exon 1 VAR_014848 Q01629:p.Met41Thr SP substitution exon 1 VAR_014849 P32455:p.Thr349Ser SP substitution exon 1 VAR_014850 P32856:p.Ser42Thr SP substitution exon 1 VAR_014851 P53004:p.Gln56Arg SP substitution exon 1 VAR_014852 P34913:p.Arg287Gln SP substitution exon 1 VAR_014853 P35568:p.Pro158Arg SP substitution exon 1 VAR_014854 P35568:p.Met209Thr SP substitution exon 1 VAR_014855 P35568:p.Ser809Phe SP substitution exon 1 VAR_014856 P35568:p.Ser892Gly SP substitution exon 1 VAR_014857 Q9Y4H2:p.Gly1057Asp SP substitution exon 1 VAR_014860 P35251:p.Ile598Val SP substitution exon 1 VAR_014861 P35318:p.Ser50Arg SP substitution exon 1 VAR_014862 Q92765:p.Arg324Gly SP substitution exon 1 VAR_014863 P35611:p.Tyr270Asn SP substitution exon 1 VAR_014864 P35611:p.Glu376Asp SP substitution exon 1 VAR_014866 P35612:p.Asp28Asn SP substitution exon 1 VAR_014867 P35612:p.Glu335Asp SP substitution exon 1 VAR_014868 P35612:p.Ser663Arg SP substitution exon 1 VAR_014869 P36405:p.Leu34Met SP substitution exon 1 VAR_014870 P37058:p.Val31Ile SP substitution exon 1 VAR_014871 P37058:p.Gly289Ser SP substitution exon 1 VAR_014872 P51659:p.Arg106His SP substitution exon 1 VAR_014873 P51659:p.Trp511Arg SP substitution exon 1 VAR_014874 P51659:p.Ile559Val SP substitution exon 1 VAR_014875 P38936:p.Asp149Gly SP substitution exon 1 VAR_014876 P40692:p.Ile32Val SP substitution exon 1 VAR_014877 P54277:p.Arg202Lys SP substitution exon 1 VAR_014878 P54277:p.Asn632Ser SP substitution exon 1 VAR_014879 P54277:p.Glu720Asp SP substitution exon 1 VAR_014881 P42898:p.Arg68Gln SP substitution exon 1 VAR_014882 P42898:p.Glu429Ala SP substitution exon 1 VAR_014884 P48506:p.Leu55Ser SP substitution exon 1 VAR_014885 P49005:p.Asn303Ser SP substitution exon 1 VAR_014886 P49792:p.Pro1892Ala SP substitution exon 1 VAR_014887 Q92902:p.Glu100Asp SP substitution exon 1 VAR_014888 Q92902:p.Ala186Val SP substitution exon 1 VAR_014889 P50225:p.Asn235Thr SP substitution exon 1 VAR_014890 P51114:p.Ala614Val SP substitution exon 1 VAR_014891 P51168:p.Gly442Val SP substitution exon 1 VAR_014892 P51168:p.Thr594Met SP substitution exon 1 VAR_014893 P51170:p.Gly49Cys SP substitution exon 1 VAR_014894 P51170:p.Gly183Ser SP substitution exon 1 VAR_014895 P51674:p.Val242Leu SP substitution exon 1 VAR_014896 P52630:p.Gln66His SP substitution exon 1 VAR_014897 P52630:p.Leu220Pro SP substitution exon 1 VAR_014898 P52630:p.Thr448Met SP substitution exon 1 VAR_014899 P52630:p.Ile464Val SP substitution exon 1 VAR_014900 P52630:p.Ser501Ile SP substitution exon 1 VAR_014901 P52630:p.Met594Ile SP substitution exon 1 VAR_014902 P52701:p.Ile886Val SP substitution exon 1 VAR_014903 P53673:p.Thr84Met SP substitution exon 1 VAR_014904 P54098:p.Pro18Ser SP substitution exon 1 VAR_014905 P54098:p.Pro324Ser SP substitution exon 1 VAR_014906 P54098:p.Arg546Cys SP substitution exon 1 VAR_014907 P54098:p.Glu662Lys SP substitution exon 1 VAR_014908 P54098:p.Arg1142Trp SP substitution exon 1 VAR_014909 P54098:p.Glu1143Gly SP substitution exon 1 VAR_014910 P54098:p.Arg1146Cys SP substitution exon 1 VAR_014911 P54098:p.Gln1236His SP substitution exon 1 VAR_014912 P54132:p.Ser1209Thr SP substitution exon 1 VAR_014913 Q14191:p.Arg834Cys SP substitution exon 1 VAR_014915 P54315:p.Leu461Pro SP substitution exon 1 VAR_014916 P55157:p.Glu354Gln SP substitution exon 1 VAR_014917 P55289:p.Glu86Lys SP substitution exon 1 VAR_014918 P98161:p.Arg2746Pro SP substitution exon 1 VAR_014919 Q13563:p.Ile452Val SP substitution exon 1 VAR_014920 Q03167:p.Ser15Phe SP substitution exon 1 VAR_014922 Q03405:p.Leu317Pro SP substitution exon 1 VAR_014924 Q06265:p.Ser425Thr SP substitution exon 1 VAR_014925 P60022:p.Ala48Val SP substitution exon 1 VAR_014926 P60022:p.Cys67Ser SP substitution exon 1 VAR_014927 Q13011:p.Glu41Ala SP substitution exon 1 VAR_014930 Q14690:p.Asp1871Ala SP substitution exon 1 VAR_014931 Q15029:p.Gly773Val SP substitution exon 1 VAR_014934 Q15833:p.Ile526Val SP substitution exon 1 VAR_014936 Q16254:p.Thr293Pro SP substitution exon 1 VAR_014937 Q16512:p.Val901Ile SP substitution exon 1 VAR_014938 Q16619:p.Ala92Thr SP substitution exon 1 VAR_014942 Q99571:p.Ser242Gly SP substitution exon 1 VAR_014943 Q99972:p.Asp208Glu SP substitution exon 1 VAR_014944 Q9UBK8:p.His622Tyr SP substitution exon 1 VAR_014945 Q9HBM0:p.Gly762Asp SP substitution exon 1 VAR_014946 Q9HC24:p.Ile88Thr SP substitution exon 1 VAR_014947 Q9HCP6:p.Met403Val SP substitution exon 1 VAR_014950 Q9UI17:p.Ser279Pro SP substitution exon 1 VAR_014951 Q9UI17:p.Ala530Gly SP substitution exon 1 VAR_014952 Q9UI17:p.Ser646Pro SP substitution exon 1 VAR_014953 Q9Y2Z9:p.Val406Met SP substitution exon 1 VAR_014954 Q9HC52:p.Gly317Val SP substitution exon 1 VAR_014956 Q9H147:p.Ala183Thr SP substitution exon 1 VAR_014957 P08913:p.Asn251Lys SP substitution exon 1 VAR_014959 Q9Y6N5:p.Ile264Thr SP substitution exon 1 VAR_014960 Q9UHW9:p.Phe415Ser SP substitution exon 1 VAR_014961 O14896:p.Ala2Val SP substitution exon 1 VAR_014962 O14896:p.Val18Ala SP substitution exon 1 VAR_014963 O14896:p.Val18Met SP substitution exon 1 VAR_014964 O14896:p.Pro39Ala SP substitution exon 1 VAR_014965 O14896:p.Trp60Gly SP substitution exon 1 VAR_014966 O14896:p.Ala61Gly SP substitution exon 1 VAR_014967 O14896:p.Lys66Thr SP substitution exon 1 VAR_014968 O14896:p.Gly70Arg SP substitution exon 1 VAR_014969 O14896:p.Pro76Ser SP substitution exon 1 VAR_014970 O14896:p.Gln82Lys SP substitution exon 1 VAR_014971 O14896:p.Arg84Cys SP substitution exon 1 VAR_014972 O14896:p.Arg84His SP substitution exon 1 VAR_014973 O14896:p.Asn88His SP substitution exon 1 VAR_014974 O14896:p.Lys89Glu SP substitution exon 1 VAR_014975 O14896:p.Ser90Gly SP substitution exon 1 VAR_014976 O14896:p.Asp98His SP substitution exon 1 VAR_014977 O14896:p.Arg250Gln SP substitution exon 1 VAR_014978 O14896:p.Gln273Arg SP substitution exon 1 VAR_014979 O14896:p.Val274Ile SP substitution exon 1 VAR_014981 O14896:p.Leu294Pro SP substitution exon 1 VAR_014982 O14896:p.Val297Ile SP substitution exon 1 VAR_014983 O14896:p.Lys320Glu SP substitution exon 1 VAR_014984 O14896:p.Val321Met SP substitution exon 1 VAR_014985 O14896:p.Gly325Glu SP substitution exon 1 VAR_014986 O14896:p.Leu345Pro SP substitution exon 1 VAR_014987 O14896:p.Cys347Phe SP substitution exon 1 VAR_014988 O14896:p.Phe369Ser SP substitution exon 1 VAR_014992 P57071:p.Val1342Ile SP substitution exon 1 VAR_014993 P57071:p.Thr1376Ser SP substitution exon 1 VAR_014994 P57071:p.Ser1481Pro SP substitution exon 1 VAR_014995 O76024:p.Lys193Gln SP substitution exon 1 VAR_015001 P08183:p.Phe103Leu SP substitution exon 1 VAR_015002 P08183:p.Gly185Val SP substitution exon 1 VAR_015003 P08183:p.Ser400Asn SP substitution exon 1 VAR_015004 P08183:p.Ala999Thr SP substitution exon 1 VAR_015005 P08183:p.Gln1107Pro SP substitution exon 1 VAR_015006 Q09428:p.Asp673Asn SP substitution exon 1 VAR_015007 Q09428:p.Val1360Met SP substitution exon 1 VAR_015008 Q09428:p.Arg1436Gln SP substitution exon 1 VAR_015009 Q09428:p.Glu1506Lys SP substitution exon 1 VAR_015010 Q09428:p.Leu1543Pro SP substitution exon 1 VAR_015011 P21802:p.Gly338Arg SP substitution exon 1 VAR_015012 P21802:p.Gly613Arg SP substitution exon 1 VAR_015014 P60201:p.Leu31Pro SP substitution exon 1 VAR_015015 P60201:p.Phe32Leu SP substitution exon 1 VAR_015016 P60201:p.Phe32Val SP substitution exon 1 VAR_015017 P60201:p.Cys35Tyr SP substitution exon 1 VAR_015018 P60201:p.Ala39Thr SP substitution exon 1 VAR_015019 P60201:p.Leu46Pro SP substitution exon 1 VAR_015020 P60201:p.Leu46Arg SP substitution exon 1 VAR_015021 P60201:p.Phe51Ser SP substitution exon 1 VAR_015022 P60201:p.Tyr60Cys SP substitution exon 1 VAR_015023 P60201:p.Thr116Lys SP substitution exon 1 VAR_015024 P60201:p.His130Tyr SP substitution exon 1 VAR_015025 P60201:p.His148Tyr SP substitution exon 1 VAR_015026 P60201:p.Lys151Asn SP substitution exon 1 VAR_015063 Q9Y6J6:p.Val65Met SP substitution exon 1 VAR_015064 Q9Y6H6:p.Arg83His SP substitution exon 1 VAR_015065 P26367:p.Pro118Arg SP substitution exon 1 VAR_015066 P26367:p.Pro375Gln SP substitution exon 1 VAR_015068 Q16570:p.Arg89Cys SP substitution exon 1 VAR_015069 Q16570:p.Ala100Thr SP substitution exon 1 VAR_015070 Q9Y6L6:p.Phe73Leu SP substitution exon 1 VAR_015071 Q9Y6L6:p.Val82Ala SP substitution exon 1 VAR_015072 Q9Y6L6:p.Asn130Asp SP substitution exon 1 VAR_015073 Q9Y6L6:p.Arg152Lys SP substitution exon 1 VAR_015074 Q9Y6L6:p.Pro155Thr SP substitution exon 1 VAR_015075 Q9Y6L6:p.Glu156Gly SP substitution exon 1 VAR_015076 Q9Y6L6:p.Val174Ala SP substitution exon 1 VAR_015077 Q9Y6L6:p.Leu193Arg SP substitution exon 1 VAR_015078 Q9Y6L6:p.Asp241Asn SP substitution exon 1 VAR_015079 Q9Y6L6:p.Ile353Thr SP substitution exon 1 VAR_015080 Q9Y6L6:p.Asn432Asp SP substitution exon 1 VAR_015081 Q9Y6L6:p.Asp462Gly SP substitution exon 1 VAR_015082 Q9Y6L6:p.Gly488Ala SP substitution exon 1 VAR_015083 Q9Y6L6:p.Asp655Gly SP substitution exon 1 VAR_015084 Q9Y6L6:p.Glu667Gly SP substitution exon 1 VAR_015085 O75712:p.Arg42Pro SP substitution exon 1 VAR_015086 O75712:p.Phe137Leu SP substitution exon 1 VAR_015087 O75712:p.Ile141Val SP substitution exon 1 VAR_015088 Q9NTQ9:p.Arg103Cys SP substitution exon 1 VAR_015089 Q9NTQ9:p.Arg124Gln SP substitution exon 1 VAR_015090 Q9NTQ9:p.Arg160Cys SP substitution exon 1 VAR_015091 Q9NTQ9:p.Cys169Trp SP substitution exon 1 VAR_015092 Q9NTQ9:p.Glu204Ala SP substitution exon 1 VAR_015093 Q969R5:p.Arg300Trp SP substitution exon 1 VAR_015094 O75600:p.Arg39Cys SP substitution exon 1 VAR_015095 Q01718:p.Asp107Asn SP substitution exon 1 VAR_015096 Q01718:p.Cys251Phe SP substitution exon 1 VAR_015097 Q9BZG1:p.Val197Leu SP substitution exon 1 VAR_015098 P43220:p.Leu260Phe SP substitution exon 1 VAR_015099 P11182:p.Ile98Met SP substitution exon 1 VAR_015100 P11182:p.Gly384Ser SP substitution exon 1 VAR_015103 Q03135:p.Pro132Leu SP substitution exon 1 VAR_015110 P05111:p.Ala257Thr SP substitution exon 1 VAR_015111 Q96S42:p.Arg183Gln SP substitution exon 1 VAR_015112 P15311:p.Leu532Val SP substitution exon 1 VAR_015113 Q16828:p.Val114Leu SP substitution exon 1 VAR_015114 P08151:p.Asp884Ala SP substitution exon 1 VAR_015115 P08151:p.Gly933Asp SP substitution exon 1 VAR_015117 Q96DF8:p.Ala31Val SP substitution exon 1 VAR_015118 Q96DF8:p.Val336Met SP substitution exon 1 VAR_015119 Q96DF8:p.Ala423Val SP substitution exon 1 VAR_015120 P23276:p.Arg248Gln SP substitution exon 1 VAR_015121 P23276:p.Glu249Lys SP substitution exon 1 VAR_015122 P23276:p.Ala322Val SP substitution exon 1 VAR_015123 P23276:p.Gln382Arg SP substitution exon 1 VAR_015124 P23276:p.Arg406Gln SP substitution exon 1 VAR_015125 P23276:p.Arg492Gln SP substitution exon 1 VAR_015126 P23276:p.His548Arg SP substitution exon 1 VAR_015127 P00451:p.Gly255Val SP substitution exon 1 VAR_015128 P00451:p.Gly323Glu SP substitution exon 1 VAR_015129 P00451:p.Met586Val SP substitution exon 1 VAR_015130 P00451:p.Gly1942Ala SP substitution exon 1 VAR_015131 P00451:p.Leu1963Pro SP substitution exon 1 VAR_015132 P00451:p.Tyr2036Cys SP substitution exon 1 VAR_015133 P00451:p.Pro2172Arg SP substitution exon 1 VAR_015134 P00451:p.Asp2307Ala SP substitution exon 1 VAR_015135 P08709:p.Phe64Leu SP substitution exon 1 VAR_015136 P08709:p.Ser120Pro SP substitution exon 1 VAR_015137 P08709:p.Glu154Lys SP substitution exon 1 VAR_015138 P08709:p.Gly216Asp SP substitution exon 1 VAR_015139 P08709:p.Cys254Tyr SP substitution exon 1 VAR_015140 P08709:p.Ala266Thr SP substitution exon 1 VAR_015141 P08709:p.Val312Met SP substitution exon 1 VAR_015142 P08709:p.Val341Phe SP substitution exon 1 VAR_015143 P08709:p.Pro363Arg SP substitution exon 1 VAR_015144 P08709:p.Asp403His SP substitution exon 1 VAR_015145 Q9UJA3:p.Gln63Lys SP substitution exon 1 VAR_015146 Q9BR10:p.Pro94Leu SP substitution exon 1 VAR_015147 Q8TC36:p.Glu16Lys SP substitution exon 1 VAR_015152 Q9BZ23:p.Leu111Gln SP substitution exon 1 VAR_015153 Q9BZ23:p.Gly126Ala SP substitution exon 1 VAR_015154 Q9BZ23:p.Gly219Val SP substitution exon 1 VAR_015155 Q9BZ23:p.Thr234Ala SP substitution exon 1 VAR_015156 Q9BZ23:p.Arg264Trp SP substitution exon 1 VAR_015157 Q9BZ23:p.Arg278Cys SP substitution exon 1 VAR_015158 Q9BZ23:p.Leu282Val SP substitution exon 1 VAR_015159 Q9BZ23:p.Arg286Cys SP substitution exon 1 VAR_015160 Q9BZ23:p.Thr327Ile SP substitution exon 1 VAR_015161 Q9BZ23:p.Ser351Pro SP substitution exon 1 VAR_015162 Q9BZ23:p.Asn355Ser SP substitution exon 1 VAR_015163 Q9BZ23:p.Asn404Ile SP substitution exon 1 VAR_015164 Q9BZ23:p.Leu413Pro SP substitution exon 1 VAR_015165 Q9BZ23:p.Ser471Asn SP substitution exon 1 VAR_015166 Q9BZ23:p.Ile497Thr SP substitution exon 1 VAR_015167 Q9BZ23:p.Asn500Ile SP substitution exon 1 VAR_015168 Q9BZ23:p.Gly521Arg SP substitution exon 1 VAR_015169 Q9BZ23:p.Thr528Met SP substitution exon 1 VAR_015170 Q9NVE7:p.Gln684Arg SP substitution exon 1 VAR_015172 P12271:p.Arg234Trp SP substitution exon 1 VAR_015173 O75342:p.Leu426Pro SP substitution exon 1 VAR_015174 O75342:p.His578Gln SP substitution exon 1 VAR_015175 Q9BYJ1:p.Arg396Ser SP substitution exon 1 VAR_015176 Q9BYJ1:p.Val500Phe SP substitution exon 1 VAR_015178 Q96QS3:p.Arg332His SP substitution exon 1 VAR_015179 Q96QS3:p.Leu343Gln SP substitution exon 1 VAR_015180 Q96QS3:p.Pro353Leu SP substitution exon 1 VAR_015181 P58012:p.Gly187Asp SP substitution exon 1 VAR_015182 P58012:p.Pro285Ser SP substitution exon 1 VAR_015183 P55317:p.Gly72Ala SP substitution exon 1 VAR_015185 P55317:p.Gln185Arg SP substitution exon 1 VAR_015186 O75161:p.Phe991Ser SP substitution exon 1 VAR_015187 Q8N6T3:p.Val184Met SP substitution exon 1 VAR_015188 P43699:p.Trp208Leu SP substitution exon 1 VAR_015189 P43699:p.Arg213Ser SP substitution exon 1 VAR_015190 O60663:p.His54Asn SP substitution exon 1 VAR_015191 O60663:p.Leu58Trp SP substitution exon 1 VAR_015192 O60663:p.Cys60Phe SP substitution exon 1 VAR_015193 O60663:p.Cys60Trp SP substitution exon 1 VAR_015194 O60663:p.Cys80Trp SP substitution exon 1 VAR_015195 O60663:p.Cys95Tyr SP substitution exon 1 VAR_015196 O60663:p.His114Tyr SP substitution exon 1 VAR_015197 O60663:p.Cys117Tyr SP substitution exon 1 VAR_015198 O60663:p.Trp243Cys SP substitution exon 1 VAR_015199 P11498:p.Val145Ala SP substitution exon 1 VAR_015200 P11498:p.Arg451Cys SP substitution exon 1 VAR_015201 O60663:p.Cys36Arg SP substitution exon 1 VAR_015202 O60663:p.Cys36Ser SP substitution exon 1 VAR_015203 O60663:p.His54Gln SP substitution exon 1 VAR_015204 O60663:p.His54Tyr SP substitution exon 1 VAR_015205 O60663:p.Cys57Arg SP substitution exon 1 VAR_015206 O60663:p.Cys60Gly SP substitution exon 1 VAR_015207 O60663:p.Cys60Tyr SP substitution exon 1 VAR_015208 O60663:p.Cys63Arg SP substitution exon 1 VAR_015209 O60663:p.Asp83Gly SP substitution exon 1 VAR_015210 O60663:p.Cys120Ser SP substitution exon 1 VAR_015211 O60663:p.Cys123Phe SP substitution exon 1 VAR_015212 O60663:p.Cys123Tyr SP substitution exon 1 VAR_015213 O60663:p.Leu229Pro SP substitution exon 1 VAR_015214 O75161:p.Gly754Arg SP substitution exon 1 VAR_015215 O75161:p.Arg848Trp SP substitution exon 1 VAR_015216 Q14031:p.Ser455Ala SP substitution exon 1 VAR_015217 Q14031:p.Asn1110Lys SP substitution exon 1 VAR_015218 P38435:p.Trp501Ser SP substitution exon 1 VAR_015219 Q15672:p.Ile156Val SP substitution exon 1 VAR_015220 P22735:p.Ser42Tyr SP substitution exon 1 VAR_015221 P22735:p.Arg323Gln SP substitution exon 1 VAR_015222 P22735:p.Arg389His SP substitution exon 1 VAR_015223 Q9UKM9:p.Gln215Arg SP substitution exon 1 VAR_015224 Q9UKM9:p.Gly251Ser SP substitution exon 1 VAR_015228 Q14498:p.Ala2Val SP substitution exon 1 VAR_015229 Q9UIJ5:p.Ser306Phe SP substitution exon 1 VAR_015230 Q9UIJ5:p.Met356Ile SP substitution exon 1 VAR_015231 P01233:p.Thr18Ala SP substitution exon 1 VAR_015232 P01233:p.Pro24Met SP substitution exon 1 VAR_015233 P01233:p.Arg28Trp SP substitution exon 1 VAR_015234 P01233:p.Arg30His SP substitution exon 1 VAR_015235 P01233:p.Ser147Cys SP substitution exon 1 VAR_015236 P98174:p.Arg522His SP substitution exon 1 VAR_015237 P98174:p.Arg610Gln SP substitution exon 1 VAR_015238 P14138:p.Tyr127Cys SP substitution exon 1 VAR_015239 P41181:p.Leu22Val SP substitution exon 1 VAR_015240 P41181:p.Leu28Pro SP substitution exon 1 VAR_015241 P41181:p.Ala47Val SP substitution exon 1 VAR_015242 P41181:p.Asn68Ser SP substitution exon 1 VAR_015243 P41181:p.Val71Met SP substitution exon 1 VAR_015244 P41181:p.Thr125Met SP substitution exon 1 VAR_015245 P41181:p.Thr126Met SP substitution exon 1 VAR_015246 P41181:p.Ala147Thr SP substitution exon 1 VAR_015247 P41181:p.Val168Met SP substitution exon 1 VAR_015248 P41181:p.Gly175Arg SP substitution exon 1 VAR_015249 P41181:p.Cys181Trp SP substitution exon 1 VAR_015250 P41181:p.Pro185Ala SP substitution exon 1 VAR_015251 P41181:p.Ala190Thr SP substitution exon 1 VAR_015252 P41181:p.Val194Ile SP substitution exon 1 VAR_015253 P41181:p.Trp202Cys SP substitution exon 1 VAR_015254 P41181:p.Glu258Lys SP substitution exon 1 VAR_015255 P41181:p.Pro262Leu SP substitution exon 1 VAR_015256 P41181:p.Gln57Pro SP substitution exon 1 VAR_015257 P41181:p.Gly100Val SP substitution exon 1 VAR_015258 Q15526:p.Gly124Arg SP substitution exon 1 VAR_015259 Q15526:p.Tyr274Asp SP substitution exon 1 VAR_015260 P28069:p.Trp193Arg SP substitution exon 1 VAR_015262 P01185:p.Tyr21His SP substitution exon 1 VAR_015263 P01185:p.Pro26Leu SP substitution exon 1 VAR_015264 P01185:p.Cys52Arg SP substitution exon 1 VAR_015265 P01185:p.Gly54Arg SP substitution exon 1 VAR_015266 P01185:p.Gly54Val SP substitution exon 1 VAR_015267 P01185:p.Cys59Arg SP substitution exon 1 VAR_015268 P01185:p.Cys59Tyr SP substitution exon 1 VAR_015269 P01185:p.Ser87Phe SP substitution exon 1 VAR_015270 P01185:p.Cys92Tyr SP substitution exon 1 VAR_015271 P01185:p.Gly96Val SP substitution exon 1 VAR_015272 P01185:p.Arg97Cys SP substitution exon 1 VAR_015273 P01185:p.Arg97Pro SP substitution exon 1 VAR_015274 P01185:p.Cys98Gly SP substitution exon 1 VAR_015275 P01185:p.Cys104Phe SP substitution exon 1 VAR_015276 P01185:p.Cys105Arg SP substitution exon 1 VAR_015277 P01185:p.Cys116Gly SP substitution exon 1 VAR_015278 P01185:p.Cys116Arg SP substitution exon 1 VAR_015279 P01185:p.Cys105Tyr SP substitution exon 1 VAR_015280 P28715:p.Pro72His SP substitution exon 1 VAR_015281 P04155:p.Thr32Ile SP substitution exon 1 VAR_015282 P04155:p.Thr32Lys SP substitution exon 1 VAR_015283 P04155:p.Ala34Asp SP substitution exon 1 VAR_015284 P04155:p.Glu37Lys SP substitution exon 1 VAR_015285 P04155:p.Val46Ile SP substitution exon 1 VAR_015286 P04155:p.Gly55Val SP substitution exon 1 VAR_015294 P24530:p.Phe292Leu SP substitution exon 1 VAR_015295 Q01718:p.Tyr254Cys SP substitution exon 1 VAR_015296 P30518:p.Gly12Glu SP substitution exon 1 VAR_015297 P30518:p.Leu43Pro SP substitution exon 1 VAR_015298 P30518:p.Ile46Lys SP substitution exon 1 VAR_015299 P30518:p.Leu53Arg SP substitution exon 1 VAR_015300 P30518:p.Asn55Asp SP substitution exon 1 VAR_015301 P30518:p.Asn55His SP substitution exon 1 VAR_015302 P30518:p.Leu59Pro SP substitution exon 1 VAR_015303 P30518:p.Ala61Val SP substitution exon 1 VAR_015304 P30518:p.Leu62Pro SP substitution exon 1 VAR_015305 P30518:p.Leu81Phe SP substitution exon 1 VAR_015306 P30518:p.Leu83Pro SP substitution exon 1 VAR_015307 P30518:p.Leu83Gln SP substitution exon 1 VAR_015308 P30518:p.Ala84Asp SP substitution exon 1 VAR_015309 P30518:p.Asp85Asn SP substitution exon 1 VAR_015310 P30518:p.Gln92Arg SP substitution exon 1 VAR_015311 P30518:p.Leu94Gln SP substitution exon 1 VAR_015312 P30518:p.Pro95Leu SP substitution exon 1 VAR_015313 P30518:p.Trp99Arg SP substitution exon 1 VAR_015314 P30518:p.Arg104Cys SP substitution exon 1 VAR_015315 P30518:p.Phe105Val SP substitution exon 1 VAR_015316 P30518:p.Gly107Glu SP substitution exon 1 VAR_015317 P30518:p.Cys112Tyr SP substitution exon 1 VAR_015318 P30518:p.Gly122Arg SP substitution exon 1 VAR_015319 P30518:p.Met123Lys SP substitution exon 1 VAR_015320 P30518:p.Ser127Phe SP substitution exon 1 VAR_015321 P30518:p.Ile130Phe SP substitution exon 1 VAR_015322 P30518:p.Leu135Pro SP substitution exon 1 VAR_015323 P30518:p.Arg139Ser SP substitution exon 1 VAR_015324 P30518:p.Ala163Pro SP substitution exon 1 VAR_015325 P30518:p.Pro173Ser SP substitution exon 1 VAR_015326 P30518:p.Gln174Leu SP substitution exon 1 VAR_015327 P30518:p.Asp191Gly SP substitution exon 1 VAR_015328 P30518:p.Gly201Asp SP substitution exon 1 VAR_015329 P30518:p.Thr204Asn SP substitution exon 1 VAR_015330 P30518:p.Val206Asp SP substitution exon 1 VAR_015331 P30518:p.Thr207Asn SP substitution exon 1 VAR_015332 P30518:p.Ile209Phe SP substitution exon 1 VAR_015333 P30518:p.Phe214Ser SP substitution exon 1 VAR_015334 P30518:p.Val215Met SP substitution exon 1 VAR_015335 P30518:p.Pro217Thr SP substitution exon 1 VAR_015336 P30518:p.Leu219Pro SP substitution exon 1 VAR_015337 P30518:p.Leu219Arg SP substitution exon 1 VAR_015338 P30518:p.Arg252Trp SP substitution exon 1 VAR_015339 P30518:p.Met272Lys SP substitution exon 1 VAR_015340 P30518:p.Val277Ala SP substitution exon 1 VAR_015341 P30518:p.Leu282Pro SP substitution exon 1 VAR_015342 P30518:p.Pro286Ser SP substitution exon 1 VAR_015343 P30518:p.Phe287Leu SP substitution exon 1 VAR_015344 P30518:p.Leu289Pro SP substitution exon 1 VAR_015345 P30518:p.Ala294Pro SP substitution exon 1 VAR_015346 P30518:p.Leu309Arg SP substitution exon 1 VAR_015347 P30518:p.Ser315Arg SP substitution exon 1 VAR_015348 P30518:p.Ser318Thr SP substitution exon 1 VAR_015349 P30518:p.Cys319Arg SP substitution exon 1 VAR_015350 P30518:p.Asn321Asp SP substitution exon 1 VAR_015351 P30518:p.Asn321Lys SP substitution exon 1 VAR_015352 P30518:p.Asn321Tyr SP substitution exon 1 VAR_015353 P30518:p.Pro322His SP substitution exon 1 VAR_015354 P30518:p.Pro322Ser SP substitution exon 1 VAR_015355 P30518:p.Trp323Arg SP substitution exon 1 VAR_015356 P30518:p.Gly352Asp SP substitution exon 1 VAR_015357 P32245:p.Asn274Ser SP substitution exon 1 VAR_015358 Q01740:p.His97Gln SP substitution exon 1 VAR_015359 Q01740:p.Ile303Thr SP substitution exon 1 VAR_015360 Q01740:p.Ile303Val SP substitution exon 1 VAR_015361 Q99518:p.Val59Ile SP substitution exon 1 VAR_015362 Q99518:p.Arg238Gln SP substitution exon 1 VAR_015364 P31513:p.Asp132His SP substitution exon 1 VAR_015365 P31513:p.Leu360Pro SP substitution exon 1 VAR_015366 P31513:p.Gly503Arg SP substitution exon 1 VAR_015367 P31512:p.Ile37Thr SP substitution exon 1 VAR_015368 P31512:p.Val323Ala SP substitution exon 1 VAR_015369 P31512:p.Glu339Gln SP substitution exon 1 VAR_015370 P49326:p.Pro457Leu SP substitution exon 1 VAR_015371 O60774:p.Val127Ile SP substitution exon 1 VAR_015372 O60774:p.Val257Ile SP substitution exon 1 VAR_015373 Q02846:p.Arg838His SP substitution exon 1 VAR_015374 P56539:p.Asp28Glu SP substitution exon 1 VAR_015375 P07202:p.Ile447Phe SP substitution exon 1 VAR_015376 P11678:p.Arg286His SP substitution exon 1 VAR_015377 P05164:p.Tyr173Cys SP substitution exon 1 VAR_015378 P05164:p.Met251Thr SP substitution exon 1 VAR_015379 P05164:p.Arg569Trp SP substitution exon 1 VAR_015380 Q92934:p.Ala107Ser SP substitution exon 1 VAR_015381 Q99593:p.Gln49Lys SP substitution exon 1 VAR_015382 Q99593:p.Ile54Thr SP substitution exon 1 VAR_015383 Q9Y458:p.Gly118Cys SP substitution exon 1 VAR_015384 Q9Y458:p.Thr260Met SP substitution exon 1 VAR_015385 O00253:p.Ala67Thr SP substitution exon 1 VAR_015386 Q8WXD0:p.Thr222Pro SP substitution exon 1 VAR_015387 Q8WXD0:p.Ile604Val SP substitution exon 1 VAR_015388 P63092:p.Arg258Trp SP substitution exon 1 VAR_015389 P20807:p.Ala160Gly SP substitution exon 1 VAR_015390 Q9Y3A5:p.Asn8Lys SP substitution exon 1 VAR_015391 Q9Y3A5:p.Glu44Gly SP substitution exon 1 VAR_015392 Q9Y3A5:p.Lys67Glu SP substitution exon 1 VAR_015393 Q9Y3A5:p.Ile87Ser SP substitution exon 1 VAR_015394 Q9Y3A5:p.Arg126Thr SP substitution exon 1 VAR_015395 Q9Y3A5:p.Arg169Cys SP substitution exon 1 VAR_015396 Q9Y3A5:p.Ile212Thr SP substitution exon 1 VAR_015397 O15273:p.Arg87Gln SP substitution exon 1 VAR_015398 P43034:p.Phe31Ser SP substitution exon 1 VAR_015399 P43034:p.Gly162Ser SP substitution exon 1 VAR_015400 P43034:p.Asp317His SP substitution exon 1 VAR_015401 P50461:p.Trp4Arg SP substitution exon 1 VAR_015402 P15924:p.Ser299Arg SP substitution exon 1 VAR_015403 P48506:p.Pro158Leu SP substitution exon 1 VAR_015404 Q14232:p.Asn208Tyr SP substitution exon 1 VAR_015405 Q9UI10:p.Ala228Val SP substitution exon 1 VAR_015406 Q9UI10:p.Arg306Gly SP substitution exon 1 VAR_015407 Q9UI10:p.Arg357Gln SP substitution exon 1 VAR_015408 Q9UI10:p.Arg374Cys SP substitution exon 1 VAR_015409 Q9NR50:p.Ala87Val SP substitution exon 1 VAR_015410 Q9NR50:p.Arg225Gln SP substitution exon 1 VAR_015411 P26439:p.Pro222Thr SP substitution exon 1 VAR_015412 P20908:p.Gly530Ser SP substitution exon 1 VAR_015413 P20908:p.Gly1489Asp SP substitution exon 1 VAR_015414 P41180:p.Leu616Val SP substitution exon 1 VAR_015415 P55211:p.Ala28Val SP substitution exon 1 VAR_015416 P55211:p.Ser99Leu SP substitution exon 1 VAR_015417 P55211:p.Thr102Ile SP substitution exon 1 VAR_015418 P55211:p.Leu106Val SP substitution exon 1 VAR_015419 P55211:p.Glu114Asp SP substitution exon 1 VAR_015420 P55211:p.Arg173His SP substitution exon 1 VAR_015421 P55211:p.Gln221Arg SP substitution exon 1 VAR_015422 P22223:p.Arg503His SP substitution exon 1 VAR_015423 O43520:p.Asp554Asn SP substitution exon 1 VAR_015424 Q9H2A7:p.Ile123Thr SP substitution exon 1 VAR_015425 Q9H2A7:p.Ala181Val SP substitution exon 1 VAR_015426 Q9Y6I8:p.Val204Ile SP substitution exon 1 VAR_015427 P20933:p.Val12Leu SP substitution exon 1 VAR_015428 P20933:p.Gly100Glu SP substitution exon 1 VAR_015429 P20933:p.Phe135Ser SP substitution exon 1 VAR_015430 P20933:p.Gly252Glu SP substitution exon 1 VAR_015431 P20933:p.Gly252Arg SP substitution exon 1 VAR_015432 P20933:p.Thr257Ile SP substitution exon 1 VAR_015433 P32189:p.Asn294Asp SP substitution exon 1 VAR_015434 P20333:p.Met196Arg SP substitution exon 1 VAR_015435 P20333:p.Glu232Lys SP substitution exon 1 VAR_015436 P37287:p.Asp40His SP substitution exon 1 VAR_015437 P37287:p.Gly48Ala SP substitution exon 1 VAR_015438 P37287:p.Gly48Asp SP substitution exon 1 VAR_015439 P37287:p.Gly48Val SP substitution exon 1 VAR_015440 P37287:p.His128Arg SP substitution exon 1 VAR_015441 P37287:p.Gly239Arg SP substitution exon 1 VAR_015442 P37287:p.Arg19Trp SP substitution exon 1 VAR_015443 Q9UHP6:p.Thr42Met SP substitution exon 1 VAR_015444 P32754:p.Ala33Thr SP substitution exon 1 VAR_015445 P32754:p.Tyr160Cys SP substitution exon 1 VAR_015446 P32754:p.Ile267Phe SP substitution exon 1 VAR_015447 P32754:p.Ala268Val SP substitution exon 1 VAR_015448 P32754:p.Ile335Met SP substitution exon 1 VAR_015449 P32754:p.Val340Leu SP substitution exon 1 VAR_015450 P32929:p.Thr67Ile SP substitution exon 1 VAR_015451 P32929:p.Gln240Glu SP substitution exon 1 VAR_015452 P32929:p.Ser403Ile SP substitution exon 1 VAR_015453 P29033:p.Gly12Arg SP substitution exon 1 VAR_015454 P29033:p.Ser17Phe SP substitution exon 1 VAR_015455 P29033:p.Gly45Glu SP substitution exon 1 VAR_015456 P29033:p.Asp50Asn SP substitution exon 1 VAR_015457 P29033:p.Ile71Thr SP substitution exon 1 VAR_015458 P29033:p.Thr86Arg SP substitution exon 1 VAR_015459 P29033:p.Thr123Asn SP substitution exon 1 VAR_015460 P29033:p.Arg143Trp SP substitution exon 1 VAR_015461 P29033:p.Phe191Leu SP substitution exon 1 VAR_015463 P78324:p.Ala20Pro SP substitution exon 1 VAR_015464 P78324:p.Asp40Glu SP substitution exon 1 VAR_015465 P78324:p.Leu44Ser SP substitution exon 1 VAR_015466 P78324:p.Thr50Ser SP substitution exon 1 VAR_015468 P78324:p.Thr52Ile SP substitution exon 1 VAR_015470 P78324:p.Arg54His SP substitution exon 1 VAR_015471 P78324:p.Ala57Val SP substitution exon 1 VAR_015472 P78324:p.Ile61Asn SP substitution exon 1 VAR_015473 P78324:p.Trp68Arg SP substitution exon 1 VAR_015474 P78324:p.Gly75Ala SP substitution exon 1 VAR_015475 P78324:p.Glu77Lys SP substitution exon 1 VAR_015477 P78324:p.Asn81His SP substitution exon 1 VAR_015478 P78324:p.Asp95Glu SP substitution exon 1 VAR_015479 P78324:p.Leu96Ser SP substitution exon 1 VAR_015480 P78324:p.Asn100Glu SP substitution exon 1 VAR_015483 P78324:p.Arg107Ser SP substitution exon 1 VAR_015484 P78324:p.Gly109Ser SP substitution exon 1 VAR_015485 P78324:p.Arg125Gln SP substitution exon 1 VAR_015486 P78324:p.Val132Thr SP substitution exon 1 VAR_015487 P78324:p.Phe134Leu SP substitution exon 1 VAR_015488 P78324:p.Gln163Asp SP substitution exon 1 VAR_015489 P78324:p.Thr181Ser SP substitution exon 1 VAR_015490 P78324:p.Glu190Gln SP substitution exon 1 VAR_015492 P78324:p.Lys214Asn SP substitution exon 1 VAR_015493 P78324:p.Glu220Gly SP substitution exon 1 VAR_015494 P78324:p.Val222Ile SP substitution exon 1 VAR_015495 P78324:p.Gln236Arg SP substitution exon 1 VAR_015497 P78324:p.Arg251Gln SP substitution exon 1 VAR_015498 P78324:p.Gln261Leu SP substitution exon 1 VAR_015499 P78324:p.Val263Met SP substitution exon 1 VAR_015500 P78324:p.Val271Ile SP substitution exon 1 VAR_015501 P78324:p.Arg276Thr SP substitution exon 1 VAR_015502 P78324:p.Val302Leu SP substitution exon 1 VAR_015503 P78324:p.Pro339Ser SP substitution exon 1 VAR_015504 P78324:p.Pro353Leu SP substitution exon 1 VAR_015505 P78324:p.Gly357Ser SP substitution exon 1 VAR_015506 P78324:p.Ser367Pro SP substitution exon 1 VAR_015507 P78324:p.Arg370Gln SP substitution exon 1 VAR_015508 P78324:p.Ala389Glu SP substitution exon 1 VAR_015509 P78324:p.Gln443Arg SP substitution exon 1 VAR_015510 P78324:p.Pro460Leu SP substitution exon 1 VAR_015511 P78324:p.Ala486Leu SP substitution exon 1 VAR_015512 P78324:p.Pro491Leu SP substitution exon 1 VAR_015513 Q9UPZ3:p.Leu417Met SP substitution exon 1 VAR_015514 P56645:p.Pro856Ala SP substitution exon 1 VAR_015515 P31994:p.Ile232Thr SP substitution exon 1 VAR_015516 P35869:p.Pro517Ser SP substitution exon 1 VAR_015517 P35869:p.Met786Val SP substitution exon 1 VAR_015518 Q92620:p.Thr1217Ala SP substitution exon 1 VAR_015519 Q02388:p.Gly1595Arg SP substitution exon 1 VAR_015520 Q02388:p.Gly1815Arg SP substitution exon 1 VAR_015521 Q8NBS3:p.Gln408His SP substitution exon 1 VAR_015522 Q8NBS3:p.Lys409Asn SP substitution exon 1 VAR_015523 Q8NBS3:p.Met483Thr SP substitution exon 1 VAR_015524 Q8NBS3:p.Thr708Ala SP substitution exon 1 VAR_015525 Q16671:p.Arg54Cys SP substitution exon 1 VAR_015526 Q16671:p.Gly142Val SP substitution exon 1 VAR_015527 Q16671:p.His282Gln SP substitution exon 1 VAR_015528 Q16671:p.Arg406Gln SP substitution exon 1 VAR_015529 Q16671:p.Asp426Gly SP substitution exon 1 VAR_015530 Q16671:p.Val458Ala SP substitution exon 1 VAR_015531 Q16671:p.Asp491His SP substitution exon 1 VAR_015532 Q16671:p.Arg504Cys SP substitution exon 1 VAR_015533 P36894:p.Cys124Arg SP substitution exon 1 VAR_015534 P36894:p.Ala338Asp SP substitution exon 1 VAR_015535 P36894:p.Cys376Tyr SP substitution exon 1 VAR_015536 Q93100:p.Ala118Pro SP substitution exon 1 VAR_015537 Q9NQ38:p.Lys420Glu SP substitution exon 1 VAR_015539 P06213:p.Ile146Met SP substitution exon 1 VAR_015540 P06213:p.Arg279Cys SP substitution exon 1 VAR_015542 P06213:p.Trp439Ser SP substitution exon 1 VAR_015543 Q9HAW9:p.Lys132Arg SP substitution exon 1 VAR_015544 Q9HAW9:p.Gly154Ala SP substitution exon 1 VAR_015545 Q9HAW9:p.Ala173Gly SP substitution exon 1 VAR_015546 Q9HAW9:p.Thr202Ala SP substitution exon 1 VAR_015547 Q9HAW9:p.Met212Leu SP substitution exon 1 VAR_015548 Q8NF91:p.Gly8323Ala SP substitution exon 1 VAR_015549 Q9HAW9:p.Cys277Tyr SP substitution exon 1 VAR_015550 P48382:p.Arg149Gln SP substitution exon 1 VAR_015551 P33076:p.Leu469Pro SP substitution exon 1 VAR_015552 P33076:p.Ala658Gly SP substitution exon 1 VAR_015556 Q9HAW7:p.Asn129Lys SP substitution exon 1 VAR_015557 Q9HAW7:p.Arg131Lys SP substitution exon 1 VAR_015558 Q9HAW7:p.Trp208Arg SP substitution exon 1 VAR_015559 P19224:p.Arg184Ser SP substitution exon 1 VAR_015560 Q9H2C0:p.Ile423Thr SP substitution exon 1 VAR_015561 O15118:p.Cys177Tyr SP substitution exon 1 VAR_015562 O15118:p.Val378Ala SP substitution exon 1 VAR_015568 Q9NRY6:p.Val293Ile SP substitution exon 1 VAR_015569 P15924:p.Asn287Lys SP substitution exon 1 VAR_015570 P15924:p.Arg2366Cys SP substitution exon 1 VAR_015574 O75665:p.Ser74Phe SP substitution exon 1 VAR_015575 P35558:p.Ile267Val SP substitution exon 1 VAR_015576 Q9BY32:p.Pro32Thr SP substitution exon 1 VAR_015577 P42701:p.Arg213Trp SP substitution exon 1 VAR_015578 Q92793:p.Arg1378Pro SP substitution exon 1 VAR_015579 P68133:p.His42Tyr SP substitution exon 1 VAR_015580 P68133:p.Gly184Asp SP substitution exon 1 VAR_015581 P68133:p.Arg185Gly SP substitution exon 1 VAR_015582 P68133:p.Arg185Cys SP substitution exon 1 VAR_015583 P68133:p.Arg258His SP substitution exon 1 VAR_015584 P68133:p.Gln265Leu SP substitution exon 1 VAR_015585 P68133:p.Asn282Lys SP substitution exon 1 VAR_015586 P68133:p.Asp288Gly SP substitution exon 1 VAR_015587 P68133:p.Ile359Leu SP substitution exon 1 VAR_015588 O14983:p.Pro789Leu SP substitution exon 1 VAR_015589 O15169:p.Leu106Arg SP substitution exon 1 VAR_015590 O15169:p.Pro345Leu SP substitution exon 1 VAR_015591 O15169:p.Gly425Ser SP substitution exon 1 VAR_015592 O15169:p.Gly650Ser SP substitution exon 1 VAR_015593 O15169:p.Arg841Gln SP substitution exon 1 VAR_015594 P05089:p.Ile11Thr SP substitution exon 1 VAR_015595 P05089:p.Gly138Val SP substitution exon 1 VAR_015596 Q9BRB3:p.Thr14Ala SP substitution exon 1 VAR_015597 Q9BYK8:p.Ser788Asn SP substitution exon 1 VAR_015598 Q9BYK8:p.His1123Arg SP substitution exon 1 VAR_015599 Q9BYK8:p.Pro2016Leu SP substitution exon 1 VAR_015600 Q9BYK8:p.Gln2049Glu SP substitution exon 1 VAR_015628 P04150:p.Phe29Leu SP substitution exon 1 VAR_015629 P04150:p.Leu112Phe SP substitution exon 1 VAR_015630 P04150:p.Asp233Asn SP substitution exon 1 VAR_015635 P80365:p.Leu179Arg SP substitution exon 1 VAR_015636 P80365:p.Ser180Phe SP substitution exon 1 VAR_015637 P80365:p.Arg186Cys SP substitution exon 1 VAR_015638 P80365:p.Arg208His SP substitution exon 1 VAR_015639 P80365:p.Pro227Leu SP substitution exon 1 VAR_015640 P80365:p.Ala237Val SP substitution exon 1 VAR_015641 P80365:p.Asp244Asn SP substitution exon 1 VAR_015642 P80365:p.Leu250Arg SP substitution exon 1 VAR_015644 P80365:p.Arg279Cys SP substitution exon 1 VAR_015645 P80365:p.Ala328Val SP substitution exon 1 VAR_015646 P80365:p.Tyr338His SP substitution exon 1 VAR_015648 P04181:p.Gln90Glu SP substitution exon 1 VAR_015649 Q9BV73:p.Gln995His SP substitution exon 1 VAR_015650 P23142:p.Gln141Arg SP substitution exon 1 VAR_015652 Q9H2W1:p.Ala183Ser SP substitution exon 1 VAR_015653 Q9H2W1:p.Thr185Ser SP substitution exon 1 VAR_015654 Q96DS6:p.Val47Phe SP substitution exon 1 VAR_015655 Q96Q42:p.His102Arg SP substitution exon 1 VAR_015656 Q96Q42:p.Val368Met SP substitution exon 1 VAR_015663 Q8TEW0:p.Glu107Asp SP substitution exon 1 VAR_015664 Q8TEW8:p.Leu165Pro SP substitution exon 1 VAR_015665 Q8TEW8:p.Arg192Lys SP substitution exon 1 VAR_015666 Q8TEW8:p.Gln295Lys SP substitution exon 1 VAR_015667 Q96B97:p.Pro382Leu SP substitution exon 1 VAR_015668 Q9NZ94:p.Arg451Cys SP substitution exon 1 VAR_015669 Q96QS3:p.Leu33Pro SP substitution exon 1 VAR_015671 Q96QS3:p.Gly286Ser SP substitution exon 1 VAR_015672 P01229:p.Ala18Thr SP substitution exon 1 VAR_015673 P01229:p.Gly122Ser SP substitution exon 1 VAR_015674 O60832:p.Ile38Thr SP substitution exon 1 VAR_015675 O60832:p.Thr49Met SP substitution exon 1 VAR_015676 O60832:p.Ser121Gly SP substitution exon 1 VAR_015677 P09936:p.Ser18Tyr SP substitution exon 1 VAR_015678 P09936:p.Ile93Met SP substitution exon 1 VAR_015679 Q16557:p.Leu30Pro SP substitution exon 1 VAR_015680 Q9H2C0:p.Ile86Phe SP substitution exon 1 VAR_015681 Q9H2C0:p.Gly368Arg SP substitution exon 1 VAR_015682 Q14524:p.Leu619Phe SP substitution exon 1 VAR_015683 Q9NWW5:p.Gly123Asp SP substitution exon 1 VAR_015686 Q9NWW5:p.Trp300Arg SP substitution exon 1 VAR_015687 O43683:p.Tyr259Cys SP substitution exon 1 VAR_015688 O43683:p.His265Asn SP substitution exon 1 VAR_015689 P40692:p.Ala586Pro SP substitution exon 1 VAR_015690 Q9BV36:p.Arg139Trp SP substitution exon 1 VAR_015691 Q9BV36:p.Leu153Pro SP substitution exon 1 VAR_015692 Q9BV36:p.Asp163Asn SP substitution exon 1 VAR_015693 Q9BV36:p.Gly172Asp SP substitution exon 1 VAR_015694 Q9BV36:p.His347Arg SP substitution exon 1 VAR_015695 Q9BV36:p.Val374Ala SP substitution exon 1 VAR_015696 O95452:p.Gly11Arg SP substitution exon 1 VAR_015697 O95452:p.Ala88Val SP substitution exon 1 VAR_015698 P55771:p.Gly51Ser SP substitution exon 1 VAR_015699 P21333:p.Glu82Val SP substitution exon 1 VAR_015700 P21333:p.Pro207Leu SP substitution exon 1 VAR_015701 P21333:p.Glu254Lys SP substitution exon 1 VAR_015702 P21333:p.Asp1159Ala SP substitution exon 1 VAR_015703 P21333:p.Ala1188Thr SP substitution exon 1 VAR_015704 P21333:p.Ser1199Leu SP substitution exon 1 VAR_015705 Q14315:p.Arg1567Gln SP substitution exon 1 VAR_015706 Q14315:p.Asp1580Gly SP substitution exon 1 VAR_015707 Q14315:p.Thr1599Ala SP substitution exon 1 VAR_015708 Q14315:p.Lys2135Arg SP substitution exon 1 VAR_015709 Q14315:p.Arg2203Pro SP substitution exon 1 VAR_015710 Q14315:p.Ser2626Asn SP substitution exon 1 VAR_015711 Q14315:p.Lys2637Gln SP substitution exon 1 VAR_015712 P28360:p.Met61Lys SP substitution exon 1 VAR_015713 P21333:p.Gln170Pro SP substitution exon 1 VAR_015714 P21333:p.Leu172Phe SP substitution exon 1 VAR_015715 P21333:p.Arg196Gly SP substitution exon 1 VAR_015716 P21333:p.Arg196Trp SP substitution exon 1 VAR_015717 P21333:p.Ala200Ser SP substitution exon 1 VAR_015718 P21333:p.Ala273Pro SP substitution exon 1 VAR_015719 P21333:p.Thr555Lys SP substitution exon 1 VAR_015720 P21333:p.Asp1184Glu SP substitution exon 1 VAR_015721 P21333:p.Ser1186Leu SP substitution exon 1 VAR_015723 P21333:p.Cys1645Phe SP substitution exon 1 VAR_015724 P51687:p.Ile258Leu SP substitution exon 1 VAR_015725 P51687:p.Arg268Gln SP substitution exon 1 VAR_015726 P51687:p.Gly362Ser SP substitution exon 1 VAR_015727 P51687:p.Arg366His SP substitution exon 1 VAR_015728 P51687:p.Lys379Arg SP substitution exon 1 VAR_015729 P51687:p.Gln396Arg SP substitution exon 1 VAR_015730 P51687:p.Trp450Arg SP substitution exon 1 VAR_015731 Q9UBK8:p.Gly581Arg SP substitution exon 1 VAR_015732 Q9BQI3:p.Lys558Arg SP substitution exon 1 VAR_015733 Q9BXJ7:p.Thr41Ile SP substitution exon 1 VAR_015734 Q9Y6A1:p.Gly76Arg SP substitution exon 1 VAR_015735 Q9Y6A1:p.Val428Asp SP substitution exon 1 VAR_015736 P54105:p.Gln20His SP substitution exon 1 VAR_015737 P54105:p.Met218Thr SP substitution exon 1 VAR_015738 P43235:p.Gly79Glu SP substitution exon 1 VAR_015739 P43235:p.Ala277Val SP substitution exon 1 VAR_015740 P69892:p.Phe119Leu SP substitution exon 1 VAR_015741 O60313:p.Arg445His SP substitution exon 1 VAR_015742 P51787:p.Ser140Gly SP substitution exon 1 VAR_015743 P24043:p.Cys527Tyr SP substitution exon 1 VAR_015744 P24043:p.Cys862Arg SP substitution exon 1 VAR_015745 P24043:p.Leu2564Pro SP substitution exon 1 VAR_015746 P51570:p.Ala198Val SP substitution exon 1 VAR_015747 P17302:p.Tyr17Ser SP substitution exon 1 VAR_015748 P17302:p.Ser18Pro SP substitution exon 1 VAR_015749 P17302:p.Gly21Arg SP substitution exon 1 VAR_015750 P17302:p.Gly22Glu SP substitution exon 1 VAR_015751 P17302:p.Lys23Thr SP substitution exon 1 VAR_015752 P17302:p.Ala40Val SP substitution exon 1 VAR_015753 P17302:p.Gln49Lys SP substitution exon 1 VAR_015755 P17302:p.Arg76Ser SP substitution exon 1 VAR_015756 P17302:p.Leu90Val SP substitution exon 1 VAR_015757 P17302:p.Tyr98Cys SP substitution exon 1 VAR_015758 P17302:p.Lys102Asn SP substitution exon 1 VAR_015759 P17302:p.Ile130Thr SP substitution exon 1 VAR_015760 P17302:p.Lys134Glu SP substitution exon 1 VAR_015761 P17302:p.Gly138Arg SP substitution exon 1 VAR_015762 P17302:p.Arg202His SP substitution exon 1 VAR_015763 P17302:p.Val216Leu SP substitution exon 1 VAR_015764 P17302:p.Ala253Val SP substitution exon 1 VAR_015771 O95970:p.Leu26Arg SP substitution exon 1 VAR_015772 O95970:p.Cys46Arg SP substitution exon 1 VAR_015773 O95970:p.Glu383Ala SP substitution exon 1 VAR_015774 O95970:p.Phe318Cys SP substitution exon 1 VAR_015775 Q96L73:p.Val614Leu SP substitution exon 1 VAR_015776 Q96L73:p.Ala691Thr SP substitution exon 1 VAR_015777 Q96L73:p.Ser726Pro SP substitution exon 1 VAR_015778 Q96L73:p.Ala1036Pro SP substitution exon 1 VAR_015779 Q96L73:p.Leu1091Ile SP substitution exon 1 VAR_015780 Q96L73:p.His1616Leu SP substitution exon 1 VAR_015781 Q96L73:p.Leu1637Pro SP substitution exon 1 VAR_015782 Q96L73:p.Cys1674Trp SP substitution exon 1 VAR_015783 Q96L73:p.Ile1687Asn SP substitution exon 1 VAR_015784 Q96L73:p.Gly1792Val SP substitution exon 1 VAR_015785 Q96L73:p.Cys1925Arg SP substitution exon 1 VAR_015786 Q96L73:p.Gly1955Asp SP substitution exon 1 VAR_015787 Q96L73:p.Arg1984Gln SP substitution exon 1 VAR_015788 Q96L73:p.Tyr1997Cys SP substitution exon 1 VAR_015789 Q96L73:p.Arg2005Gln SP substitution exon 1 VAR_015790 Q96L73:p.Arg2017Gln SP substitution exon 1 VAR_015791 Q96L73:p.Arg2017Trp SP substitution exon 1 VAR_015792 Q96L73:p.His2143Gln SP substitution exon 1 VAR_015793 Q96L73:p.Cys2183Ser SP substitution exon 1 VAR_015794 Q96L73:p.Met2250Ile SP substitution exon 1 VAR_015795 Q96L73:p.Met2261Thr SP substitution exon 1 VAR_015796 Q02643:p.Leu144His SP substitution exon 1 VAR_015797 Q02643:p.Ala176Val SP substitution exon 1 VAR_015798 Q02643:p.Ala222Glu SP substitution exon 1 VAR_015799 Q02643:p.Phe242Cys SP substitution exon 1 VAR_015800 Q02643:p.Lys329Glu SP substitution exon 1 VAR_015801 P01241:p.Leu16Pro SP substitution exon 1 VAR_015802 P01241:p.Asp37Asn SP substitution exon 1 VAR_015803 P01241:p.Arg42Cys SP substitution exon 1 VAR_015804 P01241:p.Thr53Ile SP substitution exon 1 VAR_015805 P01241:p.Lys67Arg SP substitution exon 1 VAR_015806 P01241:p.Asn73Asp SP substitution exon 1 VAR_015807 P01241:p.Ser97Phe SP substitution exon 1 VAR_015808 P01241:p.Glu100Lys SP substitution exon 1 VAR_015809 P01241:p.Arg103Cys SP substitution exon 1 VAR_015810 P01241:p.Gln117Leu SP substitution exon 1 VAR_015811 P01241:p.Ser134Cys SP substitution exon 1 VAR_015812 P01241:p.Ser134Arg SP substitution exon 1 VAR_015813 P01241:p.Asp138Gly SP substitution exon 1 VAR_015814 P01241:p.Thr201Ala SP substitution exon 1 VAR_015815 P01241:p.Arg209His SP substitution exon 1 VAR_015817 Q15149:p.Arg2110Trp SP substitution exon 1 VAR_015818 P42771:p.Ala102Glu SP substitution exon 1 VAR_015819 P04637:p.Lys292Ile SP substitution exon 1 VAR_015820 P09622:p.Gly229Cys SP substitution exon 1 VAR_015822 Q92608:p.Ser1746Thr SP substitution exon 1 VAR_015823 Q8N1I0:p.Thr87Ile SP substitution exon 1 VAR_015824 Q8N1I0:p.Glu606Gln SP substitution exon 1 VAR_015825 Q8N1I0:p.Lys1059Thr SP substitution exon 1 VAR_015826 Q8N1I0:p.Pro1718Leu SP substitution exon 1 VAR_015827 Q8N1I0:p.Pro1733Ala SP substitution exon 1 VAR_015828 Q8N1I0:p.Ser1755Pro SP substitution exon 1 VAR_015829 Q8N1I0:p.Val1884Met SP substitution exon 1 VAR_015830 Q8N1I0:p.Val1914Ile SP substitution exon 1 VAR_015831 Q8N1I0:p.Pro1917Leu SP substitution exon 1 VAR_015832 Q8N1I0:p.Ser1926Leu SP substitution exon 1 VAR_015836 P51168:p.Ala336Pro SP substitution exon 1 VAR_015837 P51168:p.Val434Met SP substitution exon 1 VAR_015838 P51168:p.Gly589Ser SP substitution exon 1 VAR_015839 P51168:p.Arg597His SP substitution exon 1 VAR_015840 P51168:p.Arg624Cys SP substitution exon 1 VAR_015841 P51168:p.Glu632Gly SP substitution exon 1 VAR_015842 P51170:p.Arg178Trp SP substitution exon 1 VAR_015843 P51170:p.Ala502Pro SP substitution exon 1 VAR_015844 P51170:p.Ala614Ser SP substitution exon 1 VAR_015845 Q9NST1:p.Cys99Gly SP substitution exon 1 VAR_015846 Q9NST1:p.Gly115Cys SP substitution exon 1 VAR_015847 Q9NST1:p.Lys434Glu SP substitution exon 1 VAR_015848 P61916:p.Val39Met SP substitution exon 1 VAR_015849 P61916:p.Ser67Pro SP substitution exon 1 VAR_015850 Q14203:p.Gly59Ser SP substitution exon 1 VAR_015851 P35556:p.Glu391Lys SP substitution exon 1 VAR_015852 O15232:p.Thr303Met SP substitution exon 1 VAR_015853 P02679:p.Gly335Asp SP substitution exon 1 VAR_015855 Q02094:p.Val270Ile SP substitution exon 1 VAR_015856 Q02094:p.Gly279Glu SP substitution exon 1 VAR_015857 Q02094:p.Gly280Arg SP substitution exon 1 VAR_015858 Q02094:p.Gly380Val SP substitution exon 1 VAR_015859 Q14694:p.Met200Val SP substitution exon 1 VAR_015860 Q14694:p.Ser203Pro SP substitution exon 1 VAR_015861 Q14694:p.Val204Leu SP substitution exon 1 VAR_015862 Q8IUG5:p.Gly234Val SP substitution exon 1 VAR_015863 Q8IUG5:p.Lys347Asn SP substitution exon 1 VAR_015864 Q8IUG5:p.Arg379Gln SP substitution exon 1 VAR_015865 Q8IUG5:p.Trp389Cys SP substitution exon 1 VAR_015866 Q8IUG5:p.Thr590Met SP substitution exon 1 VAR_015867 Q8IUG5:p.Arg661Trp SP substitution exon 1 VAR_015868 Q8IUG5:p.Ala835Gly SP substitution exon 1 VAR_015869 Q8IUG5:p.Arg1095Leu SP substitution exon 1 VAR_015870 Q8IUG5:p.Arg1195Gln SP substitution exon 1 VAR_015871 Q8IUG5:p.Pro1238Gln SP substitution exon 1 VAR_015872 Q8IUG5:p.Pro1238Thr SP substitution exon 1 VAR_015873 Q8IUG5:p.Glu1708Lys SP substitution exon 1 VAR_015874 Q8IUG5:p.Glu1715Asp SP substitution exon 1 VAR_015880 Q9H4B6:p.Ala185Asp SP substitution exon 1 VAR_015881 Q9UHV2:p.Thr31Ala SP substitution exon 1 VAR_015882 P27169:p.Ile102Val SP substitution exon 1 VAR_015883 P22301:p.Gly15Arg SP substitution exon 1 VAR_015884 P08174:p.Arg240His SP substitution exon 1 VAR_015885 P82251:p.Val330Met SP substitution exon 1 VAR_015886 Q93088:p.Arg239Gln SP substitution exon 1 VAR_015887 O95954:p.Arg135Cys SP substitution exon 1 VAR_015888 O95954:p.Arg299Pro SP substitution exon 1 VAR_015890 O15381:p.Cys359Gly SP substitution exon 1 VAR_015891 P00966:p.Cys19Arg SP substitution exon 1 VAR_015892 P00966:p.Arg86His SP substitution exon 1 VAR_015893 P00966:p.Arg95Ser SP substitution exon 1 VAR_015894 P00966:p.Pro96Ser SP substitution exon 1 VAR_015895 P00966:p.Gly117Ser SP substitution exon 1 VAR_015896 P00966:p.Gly117Asp SP substitution exon 1 VAR_015897 P00966:p.Arg157Cys SP substitution exon 1 VAR_015898 P00966:p.Trp179Arg SP substitution exon 1 VAR_015899 P00966:p.Glu191Lys SP substitution exon 1 VAR_015900 P00966:p.Arg265His SP substitution exon 1 VAR_015901 P00966:p.Val269Met SP substitution exon 1 VAR_015902 P00966:p.Glu283Lys SP substitution exon 1 VAR_015903 P00966:p.Lys310Arg SP substitution exon 1 VAR_015904 P00966:p.Gly362Val SP substitution exon 1 VAR_015905 Q12913:p.Arg214Cys SP substitution exon 1 VAR_015906 Q12913:p.Gln276Pro SP substitution exon 1 VAR_015907 P06213:p.Asp86Gly SP substitution exon 1 VAR_015908 P06213:p.Leu89Pro SP substitution exon 1 VAR_015909 P06213:p.Ala119Val SP substitution exon 1 VAR_015910 P06213:p.Val167Leu SP substitution exon 1 VAR_015911 P06213:p.Cys280Tyr SP substitution exon 1 VAR_015912 P06213:p.Cys301Tyr SP substitution exon 1 VAR_015914 P06213:p.Ser350Leu SP substitution exon 1 VAR_015915 P06213:p.Ile448Thr SP substitution exon 1 VAR_015916 P06213:p.Gln492Lys SP substitution exon 1 VAR_015935 P29033:p.Asp50Tyr SP substitution exon 1 VAR_015936 P29033:p.Arg75Gln SP substitution exon 1 VAR_015937 P29033:p.Leu90Pro SP substitution exon 1 VAR_015938 P29033:p.Ile111Thr SP substitution exon 1 VAR_015939 P29033:p.Arg127His SP substitution exon 1 VAR_015940 P29033:p.Arg143Gln SP substitution exon 1 VAR_015941 P29033:p.Asp159Val SP substitution exon 1 VAR_015942 P29033:p.Arg165Trp SP substitution exon 1 VAR_015943 P29033:p.Arg184Pro SP substitution exon 1 VAR_015944 P29033:p.Cys202Phe SP substitution exon 1 VAR_015946 Q9UBC5:p.Val306Met SP substitution exon 1 VAR_015947 Q9UBC5:p.Glu385Asp SP substitution exon 1 VAR_015948 Q9UBC5:p.Gly662Glu SP substitution exon 1 VAR_015949 Q9UBC5:p.Gly674Asp SP substitution exon 1 VAR_015950 Q9UBC5:p.Ser797Phe SP substitution exon 1 VAR_015952 P35453:p.Ser316Cys SP substitution exon 1 VAR_015953 P35453:p.Ile322Leu SP substitution exon 1 VAR_015954 P11310:p.Ile78Thr SP substitution exon 1 VAR_015955 P11310:p.Cys116Tyr SP substitution exon 1 VAR_015956 P11310:p.Thr121Ile SP substitution exon 1 VAR_015957 P11310:p.Arg206Leu SP substitution exon 1 VAR_015960 P26440:p.Arg50Pro SP substitution exon 1 VAR_015961 P26440:p.Asp69Asn SP substitution exon 1 VAR_015962 P26440:p.Ala311Val SP substitution exon 1 VAR_015963 P26440:p.Cys357Arg SP substitution exon 1 VAR_015964 P26440:p.Val371Ala SP substitution exon 1 VAR_015965 P26440:p.Arg392Cys SP substitution exon 1 VAR_015966 P26440:p.Arg411Leu SP substitution exon 1 VAR_015967 P43628:p.His34Gln SP substitution exon 1 VAR_015968 P43628:p.Pro229Leu SP substitution exon 1 VAR_015969 P43628:p.Arg242Ile SP substitution exon 1 VAR_015970 P43628:p.Ala304Thr SP substitution exon 1 VAR_015971 P25189:p.Asp35Tyr SP substitution exon 1 VAR_015972 P25189:p.Ile62Phe SP substitution exon 1 VAR_015973 P25189:p.Asp75Val SP substitution exon 1 VAR_015974 P25189:p.Ile89Asn SP substitution exon 1 VAR_015975 P25189:p.Val92Met SP substitution exon 1 VAR_015976 P25189:p.Gly103Glu SP substitution exon 1 VAR_015977 P25189:p.Gly123Cys SP substitution exon 1 VAR_015978 P25189:p.Asn131Lys SP substitution exon 1 VAR_015979 P25189:p.Val136Glu SP substitution exon 1 VAR_015980 P25189:p.Ile162Met SP substitution exon 1 VAR_015981 Q14623:p.Pro46Leu SP substitution exon 1 VAR_015982 Q14623:p.Glu95Lys SP substitution exon 1 VAR_015983 Q14623:p.Asp100Glu SP substitution exon 1 VAR_015984 Q14623:p.Asp100Asn SP substitution exon 1 VAR_015985 Q14623:p.Glu131Lys SP substitution exon 1 VAR_015986 Q14623:p.Val190Ala SP substitution exon 1 VAR_015987 Q99714:p.Leu122Val SP substitution exon 1 VAR_015988 Q99714:p.Arg130Cys SP substitution exon 1 VAR_015989 P51788:p.Gly715Glu SP substitution exon 1 VAR_016004 Q9UDY2:p.Val48Ala SP substitution exon 1 VAR_016005 Q96IY1:p.Met254Val SP substitution exon 1 VAR_016006 O95995:p.Glu199Lys SP substitution exon 1 VAR_016007 P00966:p.Glu270Gln SP substitution exon 1 VAR_016008 P00966:p.Arg279Gln SP substitution exon 1 VAR_016009 P00966:p.Lys310Gln SP substitution exon 1 VAR_016010 P00966:p.Arg363Gly SP substitution exon 1 VAR_016011 P00966:p.Arg363Gln SP substitution exon 1 VAR_016012 P00966:p.Thr389Ile SP substitution exon 1 VAR_016013 P00966:p.Val69Ala SP substitution exon 1 VAR_016014 P00966:p.Arg108Leu SP substitution exon 1 VAR_016015 P00966:p.Thr119Ile SP substitution exon 1 VAR_016016 P50402:p.Gln133His SP substitution exon 1 VAR_016017 P07196:p.Glu7Lys SP substitution exon 1 VAR_016018 P07196:p.Pro8Leu SP substitution exon 1 VAR_016019 P07196:p.Pro8Gln SP substitution exon 1 VAR_016020 P07196:p.Pro8Arg SP substitution exon 1 VAR_016021 P07196:p.Pro22Ser SP substitution exon 1 VAR_016022 P07196:p.Glu90Lys SP substitution exon 1 VAR_016023 P07196:p.Asn98Ser SP substitution exon 1 VAR_016024 P07196:p.Asp468Asn SP substitution exon 1 VAR_016026 P01116:p.Gly12Asp SP substitution exon 1 VAR_016027 P01116:p.Gly12Arg SP substitution exon 1 VAR_016028 P01116:p.Gly12Ser SP substitution exon 1 VAR_016029 P01116:p.Gly13Asp SP substitution exon 1 VAR_016030 P01116:p.Ala59Thr SP substitution exon 1 VAR_016031 Q8TDM0:p.Glu56Asp SP substitution exon 1 VAR_016032 P54132:p.Ile841Thr SP substitution exon 1 VAR_016033 P54132:p.Cys878Arg SP substitution exon 1 VAR_016034 Q16678:p.Arg368His SP substitution exon 1 VAR_016035 P13646:p.Met108Thr SP substitution exon 1 VAR_016036 P13646:p.Asn112Ser SP substitution exon 1 VAR_016037 P13646:p.Leu115Pro SP substitution exon 1 VAR_016039 P11465:p.Val20Leu SP substitution exon 1 VAR_016040 Q00888:p.Leu75Val SP substitution exon 1 VAR_016041 Q15238:p.Asn154Lys SP substitution exon 1 VAR_016042 Q9UJQ4:p.Leu507Arg SP substitution exon 1 VAR_016043 Q9UJQ4:p.Ile798Leu SP substitution exon 1 VAR_016044 P60891:p.Asp52His SP substitution exon 1 VAR_016045 P60891:p.Leu129Ile SP substitution exon 1 VAR_016046 P60891:p.Ala190Val SP substitution exon 1 VAR_016047 P60891:p.His193Gln SP substitution exon 1 VAR_016048 Q00604:p.Leu16Pro SP substitution exon 1 VAR_016049 Q00604:p.Ser75Pro SP substitution exon 1 VAR_016050 Q00604:p.Ala105Thr SP substitution exon 1 VAR_016051 Q00604:p.Cys110Gly SP substitution exon 1 VAR_016052 Q8NBK3:p.Ser63Asn SP substitution exon 1 VAR_016053 Q8NBK3:p.Ser155Pro SP substitution exon 1 VAR_016054 Q8NBK3:p.Cys218Tyr SP substitution exon 1 VAR_016055 Q8NBK3:p.Ala279Val SP substitution exon 1 VAR_016056 Q8NBK3:p.Cys336Arg SP substitution exon 1 VAR_016057 Q8NBK3:p.Arg345Cys SP substitution exon 1 VAR_016058 Q8NBK3:p.Ala348Pro SP substitution exon 1 VAR_016059 Q8NBK3:p.Arg349Gln SP substitution exon 1 VAR_016060 Q8NBK3:p.Arg349Trp SP substitution exon 1 VAR_016061 P15848:p.Val358Met SP substitution exon 1 VAR_016062 Q03431:p.Pro132Leu SP substitution exon 1 VAR_016063 Q03431:p.Arg150Cys SP substitution exon 1 VAR_016064 Q03431:p.Ile458Arg SP substitution exon 1 VAR_016065 Q16595:p.Leu106Ser SP substitution exon 1 VAR_016066 Q16595:p.Leu198Arg SP substitution exon 1 VAR_016067 P37058:p.Ala56Thr SP substitution exon 1 VAR_016068 P37058:p.Ser65Leu SP substitution exon 1 VAR_016069 P37058:p.Asn130Ser SP substitution exon 1 VAR_016070 P37058:p.Gln176Pro SP substitution exon 1 VAR_016071 P37058:p.Val205Glu SP substitution exon 1 VAR_016072 P37058:p.Phe208Ile SP substitution exon 1 VAR_016073 P37058:p.Cys268Tyr SP substitution exon 1 VAR_016074 P37058:p.Pro282Leu SP substitution exon 1 VAR_016075 O14958:p.Asp307His SP substitution exon 1 VAR_016077 P51114:p.Asp429Asn SP substitution exon 1 VAR_016078 P19429:p.Pro82Ser SP substitution exon 1 VAR_016079 P19429:p.Leu144Gln SP substitution exon 1 VAR_016080 P19429:p.Arg145Trp SP substitution exon 1 VAR_016081 P19429:p.Ala171Thr SP substitution exon 1 VAR_016082 P19429:p.Lys178Glu SP substitution exon 1 VAR_016083 P19429:p.Asp190His SP substitution exon 1 VAR_016084 P19429:p.Arg192His SP substitution exon 1 VAR_016085 P19429:p.Asp196Asn SP substitution exon 1 VAR_016086 P07951:p.Arg91Gly SP substitution exon 1 VAR_016087 P48788:p.Arg174Gln SP substitution exon 1 VAR_016088 Q9NQ50:p.Arg129His SP substitution exon 1 VAR_016092 Q9UBS4:p.Ile264Val SP substitution exon 1 VAR_016093 Q9UBM1:p.Val175Met SP substitution exon 1 VAR_016094 Q9NYQ6:p.Ser664Trp SP substitution exon 1 VAR_016095 Q9NYQ6:p.Cys1126Arg SP substitution exon 1 VAR_016097 Q99665:p.Ala625Val SP substitution exon 1 VAR_016098 Q96RD7:p.Gln5His SP substitution exon 1 VAR_016099 Q8TDR4:p.His145Arg SP substitution exon 1 VAR_016100 Q8N5I4:p.Glu297Lys SP substitution exon 1 VAR_016101 Q8IWJ2:p.Arg1298Gly SP substitution exon 1 VAR_016102 Q15661:p.Asn132Lys SP substitution exon 1 VAR_016104 Q5JPE7:p.Val580Met SP substitution exon 1 VAR_016105 Q15046:p.Thr595Ser SP substitution exon 1 VAR_016106 Q14596:p.His923Arg SP substitution exon 1 VAR_016107 Q14515:p.Ala49Asp SP substitution exon 1 VAR_016108 Q12931:p.Arg307Gly SP substitution exon 1 VAR_016109 Q12889:p.Glu676Gln SP substitution exon 1 VAR_016110 Q07869:p.Arg127Gln SP substitution exon 1 VAR_016111 Q07869:p.Leu162Val SP substitution exon 1 VAR_016112 Q07869:p.Val227Ala SP substitution exon 1 VAR_016116 P37231:p.Pro40Ala SP substitution exon 1 VAR_016117 P06401:p.Ser344Thr SP substitution exon 1 VAR_016118 P06401:p.Val660Leu SP substitution exon 1 VAR_016119 Q04656:p.Ile669Thr SP substitution exon 1 VAR_016120 Q04656:p.Arg703His SP substitution exon 1 VAR_016121 Q04656:p.Ile1464Val SP substitution exon 1 VAR_016122 Q02535:p.Thr105Ala SP substitution exon 1 VAR_016123 Q02447:p.Thr164Ala SP substitution exon 1 VAR_016124 Q00059:p.Ser12Thr SP substitution exon 1 VAR_016125 P78549:p.Arg21Trp SP substitution exon 1 VAR_016126 P78549:p.Arg33Lys SP substitution exon 1 VAR_016127 P78549:p.Ile176Thr SP substitution exon 1 VAR_016128 P78549:p.Asp239Tyr SP substitution exon 1 VAR_016129 P55851:p.Ala55Val SP substitution exon 1 VAR_016130 P55212:p.Ala109Thr SP substitution exon 1 VAR_016131 P55211:p.Gly176Arg SP substitution exon 1 VAR_016132 P55211:p.Arg192Cys SP substitution exon 1 VAR_016133 P54278:p.Thr277Lys SP substitution exon 1 VAR_016134 P54278:p.Pro470Ser SP substitution exon 1 VAR_016136 P49753:p.His475Arg SP substitution exon 1 VAR_016137 P49736:p.Ala396Thr SP substitution exon 1 VAR_016138 P49736:p.Val667Met SP substitution exon 1 VAR_016139 P49736:p.Ala727Thr SP substitution exon 1 VAR_016140 P46063:p.Lys487Thr SP substitution exon 1 VAR_016141 P46063:p.Asp495His SP substitution exon 1 VAR_016142 P42566:p.Ile822Met SP substitution exon 1 VAR_016143 P35556:p.Pro2428Thr SP substitution exon 1 VAR_016144 P34810:p.Gln254Lys SP substitution exon 1 VAR_016145 P34810:p.Ala340Thr SP substitution exon 1 VAR_016146 P28340:p.Arg30Trp SP substitution exon 1 VAR_016148 P26842:p.Ala59Thr SP substitution exon 1 VAR_016149 O00220:p.Thr33Ile SP substitution exon 1 VAR_016150 O00220:p.His141Arg SP substitution exon 1 VAR_016151 O00220:p.Arg209Thr SP substitution exon 1 VAR_016152 O00220:p.Glu228Ala SP substitution exon 1 VAR_016153 O14763:p.Pro32Leu SP substitution exon 1 VAR_016154 O14763:p.Ala67Val SP substitution exon 1 VAR_016155 O43822:p.Thr150Ile SP substitution exon 1 VAR_016157 P24941:p.Tyr15Ser SP substitution exon 1 VAR_016158 P24557:p.Gly389Val SP substitution exon 1 VAR_016159 P21452:p.Ile23Thr SP substitution exon 1 VAR_016160 P20585:p.Phe709Leu SP substitution exon 1 VAR_016161 P20585:p.Gln949Arg SP substitution exon 1 VAR_016162 P20585:p.Ala1045Thr SP substitution exon 1 VAR_016163 P20585:p.Thr1054Ala SP substitution exon 1 VAR_016164 P20023:p.Ser639Asn SP substitution exon 1 VAR_016165 P20023:p.Ile993Val SP substitution exon 1 VAR_016166 P20023:p.Ala1003Glu SP substitution exon 1 VAR_016167 P19404:p.Val29Ala SP substitution exon 1 VAR_016170 P15559:p.Arg139Trp SP substitution exon 1 VAR_016171 P01137:p.Leu10Pro SP substitution exon 1 VAR_016172 P01137:p.Arg25Pro SP substitution exon 1 VAR_016173 P01137:p.Thr263Ile SP substitution exon 1 VAR_016174 P12644:p.Val152Ala SP substitution exon 1 VAR_016177 P08493:p.Lys53Glu SP substitution exon 1 VAR_016178 P08493:p.Thr102Ala SP substitution exon 1 VAR_016179 P08236:p.Leu649Pro SP substitution exon 1 VAR_016180 P07451:p.Val31Ile SP substitution exon 1 VAR_016181 P05161:p.Ser83Asn SP substitution exon 1 VAR_016182 P04278:p.Pro185Leu SP substitution exon 1 VAR_016183 P04179:p.Ala16Val SP substitution exon 1 VAR_016189 P02647:p.Asp126His SP substitution exon 1 VAR_016190 P01266:p.Gln515Glu SP substitution exon 1 VAR_016191 O75487:p.Glu391Asp SP substitution exon 1 VAR_016192 O75487:p.Ala442Val SP substitution exon 1 VAR_016193 O60928:p.Thr175Ile SP substitution exon 1 VAR_016194 O00507:p.Ala1060Thr SP substitution exon 1 VAR_016200 Q12923:p.Leu1419Pro SP substitution exon 1 VAR_016201 Q12923:p.Ile1522Met SP substitution exon 1 VAR_016202 Q9C026:p.Leu653Phe SP substitution exon 1 VAR_016203 P37058:p.Glu215Asp SP substitution exon 1 VAR_016205 P02545:p.Arg377His SP substitution exon 1 VAR_016206 Q86UP2:p.Val282Met SP substitution exon 1 VAR_016207 P56539:p.Leu87Pro SP substitution exon 1 VAR_016208 P56539:p.Ala93Thr SP substitution exon 1 VAR_016210 P35713:p.Trp95Arg SP substitution exon 1 VAR_016211 P35713:p.Ala104Pro SP substitution exon 1 VAR_016212 Q99684:p.Asn382Ser SP substitution exon 1 VAR_016213 Q99684:p.Lys403Arg SP substitution exon 1 VAR_016214 P49768:p.Cys92Ser SP substitution exon 1 VAR_016215 P49768:p.Leu113Pro SP substitution exon 1 VAR_016216 P49768:p.Leu166Pro SP substitution exon 1 VAR_016217 P49768:p.Leu174Met SP substitution exon 1 VAR_016218 P49768:p.Gly206Ala SP substitution exon 1 VAR_016219 P49768:p.Gly266Ser SP substitution exon 1 VAR_016220 P49768:p.Leu271Val SP substitution exon 1 VAR_016221 Q99705:p.Asn32Asp SP substitution exon 1 VAR_016222 O43593:p.Asp1012Asn SP substitution exon 1 VAR_016223 P08185:p.Asp389Asn SP substitution exon 1 VAR_016224 O95389:p.Gln56His SP substitution exon 1 VAR_016225 O95389:p.Cys78Arg SP substitution exon 1 VAR_016227 Q01534:p.Pro195Arg SP substitution exon 1 VAR_016228 Q01534:p.Ile216Phe SP substitution exon 1 VAR_016229 Q9H0U9:p.Pro62Ser SP substitution exon 1 VAR_016230 Q9H0U9:p.Ala74Pro SP substitution exon 1 VAR_016232 P11586:p.Arg134Lys SP substitution exon 1 VAR_016233 P04066:p.Pro10Arg SP substitution exon 1 VAR_016234 P04066:p.Cys269Ser SP substitution exon 1 VAR_016235 P04066:p.Leu410Arg SP substitution exon 1 VAR_016236 P25024:p.Arg71Cys SP substitution exon 1 VAR_016237 P25024:p.Ala306Thr SP substitution exon 1 VAR_016238 P25024:p.Arg335Cys SP substitution exon 1 VAR_016240 P49682:p.Arg292Gln SP substitution exon 1 VAR_016241 P49682:p.Ala363Thr SP substitution exon 1 VAR_016244 Q8IZJ4:p.Gln24Arg SP substitution exon 1 VAR_016245 Q8IZJ4:p.His241Tyr SP substitution exon 1 VAR_016246 Q8IZJ4:p.Met342Arg SP substitution exon 1 VAR_016247 Q8IZJ4:p.Val378Ala SP substitution exon 1 VAR_016248 Q9HCS7:p.Val126Ile SP substitution exon 1 VAR_016249 Q9HCS7:p.Arg454Gln SP substitution exon 1 VAR_016250 Q9HCS7:p.Ala702Thr SP substitution exon 1 VAR_016251 P54725:p.Thr131Ala SP substitution exon 1 VAR_016253 P43657:p.Cys137Trp SP substitution exon 1 VAR_016254 P49747:p.Glu50Asp SP substitution exon 1 VAR_016255 P49747:p.Leu51Trp SP substitution exon 1 VAR_016257 P49747:p.Ala109Gly SP substitution exon 1 VAR_016258 P49747:p.Arg224Gly SP substitution exon 1 VAR_016261 P49747:p.Arg285Pro SP substitution exon 1 VAR_016262 P35354:p.Arg228His SP substitution exon 1 VAR_016263 P35354:p.Pro428Ala SP substitution exon 1 VAR_016265 P23276:p.Ala163Thr SP substitution exon 1 VAR_016266 P23276:p.Ser726Ala SP substitution exon 1 VAR_016267 P05362:p.Arg478Trp SP substitution exon 1 VAR_016268 P19838:p.Thr489Ile SP substitution exon 1 VAR_016269 P19838:p.Met506Val SP substitution exon 1 VAR_016270 P19838:p.Thr566Ile SP substitution exon 1 VAR_016271 P19838:p.Arg578Lys SP substitution exon 1 VAR_016272 P19838:p.His711Gln SP substitution exon 1 VAR_016273 P19838:p.Ala901Thr SP substitution exon 1 VAR_016279 Q16594:p.Thr6Met SP substitution exon 1 VAR_016280 P03952:p.Ala178Thr SP substitution exon 1 VAR_016281 P03952:p.Ser269Cys SP substitution exon 1 VAR_016282 P03952:p.Phe311Val SP substitution exon 1 VAR_016283 P03952:p.Thr358Ala SP substitution exon 1 VAR_016284 P03952:p.Ser381Ala SP substitution exon 1 VAR_016287 P00747:p.Glu57Lys SP substitution exon 1 VAR_016288 P00747:p.His133Gln SP substitution exon 1 VAR_016289 P00747:p.Arg261His SP substitution exon 1 VAR_016290 P00747:p.Arg408Trp SP substitution exon 1 VAR_016291 P00747:p.Asp472Asn SP substitution exon 1 VAR_016292 P00747:p.Ala494Val SP substitution exon 1 VAR_016293 P00747:p.Arg523Trp SP substitution exon 1 VAR_016294 Q13651:p.Leu61Val SP substitution exon 1 VAR_016295 Q13651:p.Val113Ile SP substitution exon 1 VAR_016296 Q13651:p.Ser159Gly SP substitution exon 1 VAR_016297 Q13651:p.Arg212Gln SP substitution exon 1 VAR_016298 Q13651:p.Arg351Gly SP substitution exon 1 VAR_016299 Q13651:p.Ser420Leu SP substitution exon 1 VAR_016300 P17676:p.Gly195Ser SP substitution exon 1 VAR_016301 Q03468:p.Asp425Ala SP substitution exon 1 VAR_016302 Q03468:p.Gly446Asp SP substitution exon 1 VAR_016312 Q14094:p.Val207Ile SP substitution exon 1 VAR_016313 P20809:p.Val108Met SP substitution exon 1 VAR_016314 P20809:p.Arg112His SP substitution exon 1 VAR_016315 P10600:p.Thr60Met SP substitution exon 1 VAR_016316 Q16082:p.Gly111Ser SP substitution exon 1 VAR_016317 P04626:p.Trp452Cys SP substitution exon 1 VAR_016319 Q13216:p.Tyr200Cys SP substitution exon 1 VAR_016320 Q16620:p.Gly309Arg SP substitution exon 1 VAR_016321 P08729:p.Gly364Ala SP substitution exon 1 VAR_016322 Q03405:p.Glu55Gly SP substitution exon 1 VAR_016323 Q03405:p.Thr86Ala SP substitution exon 1 VAR_016324 Q03405:p.Arg105Gln SP substitution exon 1 VAR_016325 Q03405:p.Lys220Arg SP substitution exon 1 VAR_016326 Q03405:p.Asn281Lys SP substitution exon 1 VAR_016327 P01106:p.Asn11Ser SP substitution exon 1 VAR_016328 P01106:p.Gly160Cys SP substitution exon 1 VAR_016329 P01106:p.Val170Ile SP substitution exon 1 VAR_016333 Q15544:p.Thr68Arg SP substitution exon 1 VAR_016334 P42575:p.Val172Leu SP substitution exon 1 VAR_016335 P42575:p.Pro178Ala SP substitution exon 1 VAR_016337 Q92466:p.Met215Thr SP substitution exon 1 VAR_016338 Q92466:p.Ala293Thr SP substitution exon 1 VAR_016339 Q00597:p.Ile80Thr SP substitution exon 1 VAR_016340 Q14566:p.Glu806Lys SP substitution exon 1 VAR_016601 Q9UJS0:p.Glu601Lys SP substitution exon 1 VAR_016602 Q9ULT0:p.Val538Leu SP substitution exon 1 VAR_016603 Q96EZ4:p.Val159Ala SP substitution exon 1 VAR_016697 Q14678:p.Ser464Ala SP substitution exon 1 VAR_016756 Q8TDL5:p.Ile84Val SP substitution exon 1 VAR_016757 Q8TDL5:p.Ser479Thr SP substitution exon 1 VAR_016758 P51649:p.His180Tyr SP substitution exon 1 VAR_016759 P51649:p.Pro182Leu SP substitution exon 1 VAR_016760 P00367:p.Ser270Cys SP substitution exon 1 VAR_016761 P00367:p.Arg274Cys SP substitution exon 1 VAR_016762 P00367:p.Arg318Thr SP substitution exon 1 VAR_016763 P00367:p.Tyr319Cys SP substitution exon 1 VAR_016764 P00367:p.Arg322Cys SP substitution exon 1 VAR_016765 P00367:p.Arg322His SP substitution exon 1 VAR_016766 P18858:p.Gly249Glu SP substitution exon 1 VAR_016767 P18858:p.Asn267Ser SP substitution exon 1 VAR_016768 P18858:p.Arg409His SP substitution exon 1 VAR_016769 P18858:p.Met480Val SP substitution exon 1 VAR_016771 P49917:p.Leu539Phe SP substitution exon 1 VAR_016772 P49917:p.Ile658Val SP substitution exon 1 VAR_016774 Q9UI46:p.Ala8Ser SP substitution exon 1 VAR_016775 Q9UI46:p.Gly515Ser SP substitution exon 1 VAR_016776 Q9NYJ7:p.Leu218Pro SP substitution exon 1 VAR_016777 P19971:p.Arg44Gln SP substitution exon 1 VAR_016778 P45381:p.His21Pro SP substitution exon 1 VAR_016779 P45381:p.Ala57Thr SP substitution exon 1 VAR_016780 P45381:p.Arg168His SP substitution exon 1 VAR_016781 P45381:p.Pro181Thr SP substitution exon 1 VAR_016782 P45381:p.Glu24Gly SP substitution exon 1 VAR_016783 P45381:p.Asp68Ala SP substitution exon 1 VAR_016784 P45381:p.Asp114Tyr SP substitution exon 1 VAR_016785 P45381:p.Cys152Trp SP substitution exon 1 VAR_016786 P45381:p.Tyr231Cys SP substitution exon 1 VAR_016787 P45381:p.His244Arg SP substitution exon 1 VAR_016788 P45381:p.Asp249Val SP substitution exon 1 VAR_016789 P02649:p.Ala124Val SP substitution exon 1 VAR_016790 O14773:p.Arg127Gln SP substitution exon 1 VAR_016791 O14773:p.Ser153Pro SP substitution exon 1 VAR_016792 O14773:p.Arg206His SP substitution exon 1 VAR_016793 O14773:p.Val277Met SP substitution exon 1 VAR_016794 O14773:p.Gln278Pro SP substitution exon 1 VAR_016795 O14773:p.Gly284Val SP substitution exon 1 VAR_016796 O14773:p.Asn286Ser SP substitution exon 1 VAR_016804 Q86UR5:p.Arg820His SP substitution exon 1 VAR_016805 Q09470:p.Ile400Val SP substitution exon 1 VAR_016806 Q9Y6B6:p.Gly37Arg SP substitution exon 1 VAR_016807 Q9Y6B6:p.Asp137Asn SP substitution exon 1 VAR_016808 Q9Y6B6:p.Ser179Arg SP substitution exon 1 VAR_016809 Q8N2M8:p.Lys174Glu SP substitution exon 1 VAR_016810 O00628:p.Thr14Pro SP substitution exon 1 VAR_016811 P78417:p.Ala140Asp SP substitution exon 1 VAR_016812 Q9H4Y5:p.Asn142Asp SP substitution exon 1 VAR_016814 Q92781:p.Gly35Ser SP substitution exon 1 VAR_016815 Q92781:p.Gly107Arg SP substitution exon 1 VAR_016816 Q92781:p.Val132Met SP substitution exon 1 VAR_016817 Q92781:p.Val164Phe SP substitution exon 1 VAR_016818 Q92781:p.Val177Gly SP substitution exon 1 VAR_016824 O15553:p.Leu110Pro SP substitution exon 1 VAR_016825 O15553:p.Gly138Ala SP substitution exon 1 VAR_016826 O15553:p.Glu230Lys SP substitution exon 1 VAR_016827 O15553:p.Ile591Thr SP substitution exon 1 VAR_016828 O15553:p.Arg653His SP substitution exon 1 VAR_016829 O15553:p.Ser675Asn SP substitution exon 1 VAR_016830 O15553:p.Met680Leu SP substitution exon 1 VAR_016838 O95452:p.Val37Glu SP substitution exon 1 VAR_016839 P29033:p.Arg32Leu SP substitution exon 1 VAR_016840 O43826:p.Arg28His SP substitution exon 1 VAR_016842 P49770:p.Ser171Phe SP substitution exon 1 VAR_016843 Q9UI10:p.Cys465Arg SP substitution exon 1 VAR_016844 Q9UI10:p.Tyr489His SP substitution exon 1 VAR_016845 Q13144:p.Arg195Cys SP substitution exon 1 VAR_016846 Q13144:p.Arg195His SP substitution exon 1 VAR_016847 P48728:p.Asn145Ile SP substitution exon 1 VAR_016848 P48728:p.Glu211Lys SP substitution exon 1 VAR_016849 P23378:p.Ala283Pro SP substitution exon 1 VAR_016850 P23378:p.Pro329Thr SP substitution exon 1 VAR_016851 P23378:p.Arg515Ser SP substitution exon 1 VAR_016852 P01266:p.Ser604Asp SP substitution exon 1 VAR_016853 P01266:p.Gly653Asp SP substitution exon 1 VAR_016855 P01266:p.His1043Tyr SP substitution exon 1 VAR_016856 P01266:p.Ile1059Thr SP substitution exon 1 VAR_016857 P01266:p.Trp1437Arg SP substitution exon 1 VAR_016858 P01266:p.Pro1463His SP substitution exon 1 VAR_016864 Q99502:p.Glu363Lys SP substitution exon 1 VAR_016865 Q99502:p.Gly426Ser SP substitution exon 1 VAR_016866 Q99502:p.Asp429Gly SP substitution exon 1 VAR_016867 Q99502:p.Arg440Gln SP substitution exon 1 VAR_016868 Q99502:p.Arg547Gly SP substitution exon 1 VAR_016869 Q99502:p.Leu583Pro SP substitution exon 1 VAR_016870 Q9BZJ3:p.Pro22Arg SP substitution exon 1 VAR_016871 Q9BZJ3:p.Val25Ala SP substitution exon 1 VAR_016872 Q9BZJ3:p.Val83Met SP substitution exon 1 VAR_016874 P00441:p.His81Ala SP substitution exon 1 VAR_016875 O76003:p.Gln21His SP substitution exon 1 VAR_016876 O76003:p.Pro123Ser SP substitution exon 1 VAR_016877 O43395:p.Thr494Met SP substitution exon 1 VAR_016880 P04839:p.His303Asn SP substitution exon 1 VAR_016881 P04839:p.Pro304Arg SP substitution exon 1 VAR_016882 O00358:p.Ser57Asn SP substitution exon 1 VAR_016883 P58012:p.Ile84Ser SP substitution exon 1 VAR_016885 P58012:p.Leu106Phe SP substitution exon 1 VAR_016886 P58012:p.Asn109Lys SP substitution exon 1 VAR_016887 P58012:p.Ser217Phe SP substitution exon 1 VAR_016888 P30793:p.Leu71Gln SP substitution exon 1 VAR_016889 P30793:p.Ala74Val SP substitution exon 1 VAR_016890 P30793:p.Gly83Ala SP substitution exon 1 VAR_016892 P30793:p.Gly90Val SP substitution exon 1 VAR_016893 P30793:p.Met102Arg SP substitution exon 1 VAR_016894 P30793:p.Gly108Asp SP substitution exon 1 VAR_016895 P30793:p.Asp115Asn SP substitution exon 1 VAR_016896 P30793:p.Ile135Lys SP substitution exon 1 VAR_016897 P30793:p.Cys141Arg SP substitution exon 1 VAR_016898 P30793:p.Leu163Arg SP substitution exon 1 VAR_016908 P02675:p.Arg196Cys SP substitution exon 1 VAR_016909 P02675:p.Leu383Arg SP substitution exon 1 VAR_016910 P02675:p.Gly430Asp SP substitution exon 1 VAR_016911 Q13825:p.Ala240Val SP substitution exon 1 VAR_016912 Q9P0W8:p.Val74Met SP substitution exon 1 VAR_016913 P02545:p.Arg133Leu SP substitution exon 1 VAR_016914 P46100:p.Ser596Pro SP substitution exon 1 VAR_016915 P46100:p.Glu740Gly SP substitution exon 1 VAR_016916 P46100:p.Thr1621Met SP substitution exon 1 VAR_016917 Q969F0:p.Ala10Val SP substitution exon 1 VAR_016918 Q969F0:p.Ile34Thr SP substitution exon 1 VAR_016919 Q969F0:p.Ser125Arg SP substitution exon 1 VAR_016920 Q86UW9:p.Ala94Thr SP substitution exon 1 VAR_016921 Q86UW9:p.Gly384Glu SP substitution exon 1 VAR_016922 Q86UW9:p.Thr421Ala SP substitution exon 1 VAR_016924 P20813:p.Pro167Ala SP substitution exon 1 VAR_016925 P20813:p.Gln172His SP substitution exon 1 VAR_016926 P20813:p.Lys262Arg SP substitution exon 1 VAR_016927 P20813:p.Arg22Cys SP substitution exon 1 VAR_016928 P20813:p.Ser259Arg SP substitution exon 1 VAR_016929 P20813:p.Arg487Cys SP substitution exon 1 VAR_016930 P30566:p.Ala2Val SP substitution exon 1 VAR_016931 P30566:p.Met26Leu SP substitution exon 1 VAR_016932 P30566:p.Thr450Ser SP substitution exon 1 VAR_016933 P53634:p.Trp39Ser SP substitution exon 1 VAR_016934 P53634:p.His127Pro SP substitution exon 1 VAR_016935 P53634:p.Gln286Arg SP substitution exon 1 VAR_016937 P04798:p.Met331Ile SP substitution exon 1 VAR_016938 P04798:p.Ile448Asn SP substitution exon 1 VAR_016939 P04798:p.Arg464Cys SP substitution exon 1 VAR_016940 P04798:p.Arg464Ser SP substitution exon 1 VAR_016941 P04798:p.Arg477Trp SP substitution exon 1 VAR_016942 P04798:p.Pro492Arg SP substitution exon 1 VAR_016943 P53634:p.Ile153Thr SP substitution exon 1 VAR_016947 P10632:p.Leu390Ser SP substitution exon 1 VAR_016948 P20813:p.Lys139Glu SP substitution exon 1 VAR_016949 P05108:p.Ala189Val SP substitution exon 1 VAR_016951 P05108:p.Arg353Trp SP substitution exon 1 VAR_016952 O15528:p.Arg107His SP substitution exon 1 VAR_016953 O15528:p.Gly125Glu SP substitution exon 1 VAR_016954 O15528:p.Glu189Gly SP substitution exon 1 VAR_016962 P11511:p.Arg365Gln SP substitution exon 1 VAR_016963 P11511:p.Arg375Cys SP substitution exon 1 VAR_016966 Q02318:p.Gly145Glu SP substitution exon 1 VAR_016967 O15528:p.Glu189Lys SP substitution exon 1 VAR_016969 O15528:p.Gln65His SP substitution exon 1 VAR_016975 Q9UBM7:p.Glu448Lys SP substitution exon 1 VAR_016976 Q96T68:p.Val473Met SP substitution exon 1 VAR_016977 Q92481:p.Pro73Arg SP substitution exon 1 VAR_016978 Q92481:p.Arg236Cys SP substitution exon 1 VAR_016979 Q92481:p.Arg236Ser SP substitution exon 1 VAR_016980 Q92481:p.Arg285Gln SP substitution exon 1 VAR_016981 P09758:p.Asp216Glu SP substitution exon 1 VAR_016982 Q13285:p.Arg92Gln SP substitution exon 1 VAR_016983 Q13285:p.Arg255Leu SP substitution exon 1 VAR_016984 Q13309:p.Pro85Leu SP substitution exon 1 VAR_016985 Q13309:p.Leu87Ile SP substitution exon 1 VAR_016986 P35251:p.Arg613Leu SP substitution exon 1 VAR_016988 Q8N149:p.His25Leu SP substitution exon 1 VAR_016989 Q8N149:p.His25Asn SP substitution exon 1 VAR_016990 Q8N6C8:p.Pro3Ser SP substitution exon 1 VAR_016991 Q8N6C8:p.Leu107Arg SP substitution exon 1 VAR_016992 Q8N6C8:p.Tyr301His SP substitution exon 1 VAR_016993 Q8NHL6:p.Leu68Pro SP substitution exon 1 VAR_016994 Q8NHL6:p.Ile142Thr SP substitution exon 1 VAR_016995 Q8NHL6:p.Ser155Ile SP substitution exon 1 VAR_016996 Q8NHL6:p.Leu620Phe SP substitution exon 1 VAR_016997 Q8N423:p.His20Arg SP substitution exon 1 VAR_016998 Q8N423:p.Glu161Asp SP substitution exon 1 VAR_016999 Q8N423:p.His300Tyr SP substitution exon 1 VAR_017000 Q8N423:p.Cys306Trp SP substitution exon 1 VAR_017001 O75022:p.Val21Met SP substitution exon 1 VAR_017002 O75022:p.Arg59Gln SP substitution exon 1 VAR_017003 O75022:p.Leu69Trp SP substitution exon 1 VAR_017004 O75022:p.Glu90Gln SP substitution exon 1 VAR_017005 O75022:p.Ser122Asn SP substitution exon 1 VAR_017006 O75022:p.Trp205Gln SP substitution exon 1 VAR_017007 O75022:p.Tyr400Arg SP substitution exon 1 VAR_017008 O75022:p.Tyr400His SP substitution exon 1 VAR_017009 O75022:p.Tyr400Phe SP substitution exon 1 VAR_017010 O75022:p.His405Tyr SP substitution exon 1 VAR_017012 O75022:p.Gln539His SP substitution exon 1 VAR_017013 O75022:p.Val574Ala SP substitution exon 1 VAR_017014 Q8NHJ6:p.Asp223Gly SP substitution exon 1 VAR_017015 Q8NHJ6:p.Lys362Glu SP substitution exon 1 VAR_017016 O95477:p.Ser1181Phe SP substitution exon 1 VAR_017017 P02647:p.Thr92Ile SP substitution exon 1 VAR_017018 P11597:p.Ala15Gly SP substitution exon 1 VAR_017019 P11597:p.Val385Met SP substitution exon 1 VAR_017020 P55058:p.Arg282Gln SP substitution exon 1 VAR_017021 P55058:p.Arg372His SP substitution exon 1 VAR_017022 P55058:p.Arg380Trp SP substitution exon 1 VAR_017024 P11150:p.Val342Ile SP substitution exon 1 VAR_017025 P11150:p.Phe356Leu SP substitution exon 1 VAR_017026 P11150:p.Asp409Ala SP substitution exon 1 VAR_017027 Q9Y5X9:p.Gly96Ser SP substitution exon 1 VAR_017028 Q9Y5X9:p.Thr111Ile SP substitution exon 1 VAR_017029 Q9Y5X9:p.Arg312His SP substitution exon 1 VAR_017030 P04180:p.Ser232Thr SP substitution exon 1 VAR_017031 P20839:p.Arg224Pro SP substitution exon 1 VAR_017032 P20839:p.Asp226Asn SP substitution exon 1 VAR_017033 P20839:p.Val268Ile SP substitution exon 1 VAR_017034 P47804:p.Ser66Arg SP substitution exon 1 VAR_017035 Q9NPJ1:p.Ile32Met SP substitution exon 1 VAR_017036 Q9NPJ1:p.Ser236Pro SP substitution exon 1 VAR_017037 Q9NPJ1:p.Asp286Ala SP substitution exon 1 VAR_017038 Q9NPJ1:p.Ser511Ala SP substitution exon 1 VAR_017039 Q9NPJ1:p.Arg518His SP substitution exon 1 VAR_017040 Q9NPJ1:p.Arg155Leu SP substitution exon 1 VAR_017041 Q9NPJ1:p.Ile339Val SP substitution exon 1 VAR_017042 Q9NPJ1:p.Gly345Glu SP substitution exon 1 VAR_017043 Q9GZR5:p.Ile267Thr SP substitution exon 1 VAR_017049 Q96RK4:p.Asn165His SP substitution exon 1 VAR_017050 Q96RK4:p.Leu327Pro SP substitution exon 1 VAR_017055 P47804:p.Val132Leu SP substitution exon 1 VAR_017056 P47804:p.His152Asn SP substitution exon 1 VAR_017057 P47804:p.Ser241Phe SP substitution exon 1 VAR_017058 P47804:p.Ala234Thr SP substitution exon 1 VAR_017059 Q96M32:p.Arg102Gln SP substitution exon 1 VAR_017060 P05129:p.His101Tyr SP substitution exon 1 VAR_017061 P05129:p.Ser119Pro SP substitution exon 1 VAR_017062 P05129:p.Gly128Asp SP substitution exon 1 VAR_017063 P36969:p.Ser2Asn SP substitution exon 1 VAR_017064 P36969:p.Ala120Thr SP substitution exon 1 VAR_017065 P08779:p.Met121Thr SP substitution exon 1 VAR_017066 P08779:p.Leu128Gln SP substitution exon 1 VAR_017067 P08779:p.Lys354Asn SP substitution exon 1 VAR_017068 Q04695:p.Arg94Pro SP substitution exon 1 VAR_017070 Q04695:p.Leu95Gln SP substitution exon 1 VAR_017071 Q04695:p.Leu95Pro SP substitution exon 1 VAR_017073 Q04695:p.Leu99Pro SP substitution exon 1 VAR_017074 Q04695:p.Val102Met SP substitution exon 1 VAR_017075 P02538:p.Phe174Val SP substitution exon 1 VAR_017076 P02538:p.Leu469Arg SP substitution exon 1 VAR_017077 P02538:p.Glu472Lys SP substitution exon 1 VAR_017078 P30566:p.Ala3Val SP substitution exon 1 VAR_017079 P30566:p.Pro100Ala SP substitution exon 1 VAR_017080 P30566:p.Tyr114His SP substitution exon 1 VAR_017081 P30566:p.Arg194Cys SP substitution exon 1 VAR_017082 P30566:p.Asp268Asn SP substitution exon 1 VAR_017083 P30566:p.Leu311Val SP substitution exon 1 VAR_017084 P30566:p.Pro318Leu SP substitution exon 1 VAR_017085 P30566:p.Val364Met SP substitution exon 1 VAR_017086 P30566:p.Arg374Trp SP substitution exon 1 VAR_017087 P30566:p.Arg396Cys SP substitution exon 1 VAR_017088 P30566:p.Arg396His SP substitution exon 1 VAR_017089 P30566:p.Asp422Tyr SP substitution exon 1 VAR_017090 P30566:p.Leu423Val SP substitution exon 1 VAR_017091 P30566:p.Asp430Asn SP substitution exon 1 VAR_017092 P30566:p.Ser447Pro SP substitution exon 1 VAR_017093 P30566:p.Arg452Pro SP substitution exon 1 VAR_017094 P13051:p.Phe251Ser SP substitution exon 1 VAR_017095 Q86Y07:p.Ile167Val SP substitution exon 1 VAR_017098 Q8WTV0:p.Gly2Ser SP substitution exon 1 VAR_017099 Q8WTV0:p.Val135Ile SP substitution exon 1 VAR_017100 Q8WTV0:p.Gly167Ser SP substitution exon 1 VAR_017101 Q8WTV0:p.Cys511Arg SP substitution exon 1 VAR_017102 P49747:p.Cys348Arg SP substitution exon 1 VAR_017103 P49747:p.Gly719Asp SP substitution exon 1 VAR_017104 P06729:p.His266Gln SP substitution exon 1 VAR_017105 P02458:p.Thr1439Met SP substitution exon 1 VAR_017106 O15151:p.Ile175Thr SP substitution exon 1 VAR_017108 P19419:p.Gly144Ser SP substitution exon 1 VAR_017109 P19419:p.Ser183Asn SP substitution exon 1 VAR_017110 P57057:p.Asp247Asn SP substitution exon 1 VAR_017111 P57057:p.Val414Ile SP substitution exon 1 VAR_017113 P00738:p.Glu130Lys SP substitution exon 1 VAR_017115 O14686:p.Arg5224His SP substitution exon 1 VAR_017117 Q8NEZ4:p.Ile823Thr SP substitution exon 1 VAR_017118 Q8NEZ4:p.Ile823Asn SP substitution exon 1 VAR_017119 Q96T58:p.Ala970Val SP substitution exon 1 VAR_017120 Q96T58:p.Leu1091Pro SP substitution exon 1 VAR_017121 Q96T58:p.Asn2360Asp SP substitution exon 1 VAR_017122 P51460:p.Asn110Lys SP substitution exon 1 VAR_017125 Q9H0E7:p.Thr91Ala SP substitution exon 1 VAR_017126 Q16518:p.Leu22Pro SP substitution exon 1 VAR_017127 Q16518:p.Gly40Ser SP substitution exon 1 VAR_017128 Q16518:p.Arg44Gln SP substitution exon 1 VAR_017129 Q16518:p.His68Tyr SP substitution exon 1 VAR_017130 Q16518:p.Arg91Trp SP substitution exon 1 VAR_017131 Q16518:p.Arg91Gln SP substitution exon 1 VAR_017132 Q16518:p.Ala132Thr SP substitution exon 1 VAR_017133 Q16518:p.Tyr144Asp SP substitution exon 1 VAR_017134 Q16518:p.His182Tyr SP substitution exon 1 VAR_017135 Q16518:p.Val287Phe SP substitution exon 1 VAR_017136 Q16518:p.Asn321Lys SP substitution exon 1 VAR_017137 Q16518:p.Leu341Ser SP substitution exon 1 VAR_017138 Q16518:p.Pro363Thr SP substitution exon 1 VAR_017139 Q16518:p.Tyr368His SP substitution exon 1 VAR_017140 Q16518:p.Ala393Gly SP substitution exon 1 VAR_017141 Q16518:p.Glu417Gln SP substitution exon 1 VAR_017142 Q16518:p.Val452Gly SP substitution exon 1 VAR_017143 P14416:p.Val154Ile SP substitution exon 1 VAR_017144 Q9NUW8:p.His493Arg SP substitution exon 1 VAR_017145 Q9NUW8:p.Pro566Leu SP substitution exon 1 VAR_017146 Q8WXF7:p.Arg217Gln SP substitution exon 1 VAR_017147 Q8WXF7:p.Arg239Cys SP substitution exon 1 VAR_017148 Q8WXF7:p.His258Arg SP substitution exon 1 VAR_017149 Q8WXF7:p.Ser259Tyr SP substitution exon 1 VAR_017150 Q9Y3A6:p.Thr175Ile SP substitution exon 1 VAR_017151 P56747:p.Ile143Val SP substitution exon 1 VAR_017152 Q9NZU0:p.His400Gln SP substitution exon 1 VAR_017153 Q9UBX5:p.Ser227Pro SP substitution exon 1 VAR_017154 Q8N6T7:p.Ser46Asn SP substitution exon 1 VAR_017155 Q8NE79:p.Arg129Trp SP substitution exon 1 VAR_017156 Q9UGK8:p.Lys429Glu SP substitution exon 1 VAR_017157 Q9UGK8:p.Gly457Glu SP substitution exon 1 VAR_017158 Q9NX57:p.Asn134Ser SP substitution exon 1 VAR_017159 Q9ULC3:p.Gly207Ser SP substitution exon 1 VAR_017160 Q14344:p.Val221Leu SP substitution exon 1 VAR_017164 Q86WG3:p.Ser301Arg SP substitution exon 1 VAR_017171 O95206:p.Trp7Arg SP substitution exon 1 VAR_017172 O95206:p.Glu39Ala SP substitution exon 1 VAR_017173 O95206:p.Val743Ala SP substitution exon 1 VAR_017174 Q8N6G6:p.Ser242Asn SP substitution exon 1 VAR_017175 O43405:p.Ala119Thr SP substitution exon 1 VAR_017176 P20333:p.Val187Met SP substitution exon 1 VAR_017177 P20333:p.Ala236Thr SP substitution exon 1 VAR_017178 P20333:p.Leu264Pro SP substitution exon 1 VAR_017182 O75369:p.Val1018Met SP substitution exon 1 VAR_017183 O75369:p.Asp1157Asn SP substitution exon 1 VAR_017184 Q8TB36:p.Arg120Gln SP substitution exon 1 VAR_017185 Q8TB36:p.Arg161His SP substitution exon 1 VAR_017188 P06865:p.Arg252Leu SP substitution exon 1 VAR_017189 P06865:p.Asn295Ser SP substitution exon 1 VAR_017190 P34995:p.Ala71Thr SP substitution exon 1 VAR_017191 Q8WXQ8:p.Pro79Ser SP substitution exon 1 VAR_017192 Q8WXQ8:p.Leu336Ser SP substitution exon 1 VAR_017193 Q8WXQ8:p.Glu338Asp SP substitution exon 1 VAR_017194 Q13618:p.Asp13His SP substitution exon 1 VAR_017195 Q13618:p.Val567Ile SP substitution exon 1 VAR_017196 Q15637:p.Ser357Thr SP substitution exon 1 VAR_017197 Q8NBP7:p.Arg46Leu SP substitution exon 1 VAR_017198 Q8NBP7:p.Ala53Val SP substitution exon 1 VAR_017199 Q8NBP7:p.Ser127Arg SP substitution exon 1 VAR_017200 Q8NBP7:p.Phe216Leu SP substitution exon 1 VAR_017201 Q8NBP7:p.Gly670Glu SP substitution exon 1 VAR_017202 Q8IVH4:p.Tyr207Cys SP substitution exon 1 VAR_017203 Q96EY8:p.Arg19Gln SP substitution exon 1 VAR_017204 Q96EY8:p.Ala135Thr SP substitution exon 1 VAR_017209 Q86UK5:p.Ile283Arg SP substitution exon 1 VAR_017210 Q86UK5:p.Thr699Ala SP substitution exon 1 VAR_017212 Q8IWZ6:p.Thr211Ile SP substitution exon 1 VAR_017213 Q8IWZ6:p.His323Arg SP substitution exon 1 VAR_017215 Q8NFJ9:p.Glu234Lys SP substitution exon 1 VAR_017216 Q8NFJ9:p.Met390Arg SP substitution exon 1 VAR_017218 Q8IWY9:p.Asn599Ser SP substitution exon 1 VAR_017219 Q8IWY9:p.Pro672Leu SP substitution exon 1 VAR_017220 Q8IWY9:p.Glu698Lys SP substitution exon 1 VAR_017221 Q8IWY9:p.Arg714Trp SP substitution exon 1 VAR_017222 Q8IWY9:p.Phe868Ile SP substitution exon 1 VAR_017223 Q8IWY9:p.Val869Met SP substitution exon 1 VAR_017224 Q8IWY9:p.Arg1042Trp SP substitution exon 1 VAR_017225 Q8IWY9:p.Asp1043Val SP substitution exon 1 VAR_017226 Q8IWY9:p.Pro1130Leu SP substitution exon 1 VAR_017227 O95500:p.Thr4Met SP substitution exon 1 VAR_017228 Q9Y5I7:p.His141Asp SP substitution exon 1 VAR_017229 Q9Y5I7:p.Leu145Pro SP substitution exon 1 VAR_017230 Q9Y5I7:p.Arg149Leu SP substitution exon 1 VAR_017231 Q9Y5I7:p.Leu151Phe SP substitution exon 1 VAR_017232 Q9Y5I7:p.Leu151Pro SP substitution exon 1 VAR_017233 Q9Y5I7:p.Leu151Trp SP substitution exon 1 VAR_017234 Q9Y5I7:p.Gly198Ala SP substitution exon 1 VAR_017235 Q9Y5I7:p.Ala209Thr SP substitution exon 1 VAR_017236 Q9Y5I7:p.Arg216Thr SP substitution exon 1 VAR_017237 Q9Y5I7:p.Ser235Pro SP substitution exon 1 VAR_017238 O95990:p.Leu15Met SP substitution exon 1 VAR_017239 O95990:p.Pro19Leu SP substitution exon 1 VAR_017240 P55265:p.Lys384Arg SP substitution exon 1 VAR_017242 Q9HBI1:p.Val58Ala SP substitution exon 1 VAR_017243 Q9H3H5:p.Tyr170Cys SP substitution exon 1 VAR_017244 P23945:p.Thr449Ile SP substitution exon 1 VAR_017245 P23945:p.Asp567Asn SP substitution exon 1 VAR_017246 O60285:p.Pro543Arg SP substitution exon 1 VAR_017248 Q9BXI2:p.Gly159Cys SP substitution exon 1 VAR_017249 Q9BXI2:p.Val181Gly SP substitution exon 1 VAR_017250 Q9BXI2:p.Val226Ile SP substitution exon 1 VAR_017251 O94856:p.Thr159Met SP substitution exon 1 VAR_017252 Q8TA86:p.His137Leu SP substitution exon 1 VAR_017253 Q8TA86:p.Asp170Gly SP substitution exon 1 VAR_017254 Q8TA86:p.Lys210Arg SP substitution exon 1 VAR_017255 Q9HBG4:p.Pro524Leu SP substitution exon 1 VAR_017256 Q9HBG4:p.Met580Thr SP substitution exon 1 VAR_017257 Q9HBG4:p.Gly820Arg SP substitution exon 1 VAR_017258 P21802:p.Arg6Pro SP substitution exon 1 VAR_017259 P21802:p.Ala172Phe SP substitution exon 1 VAR_017260 P21802:p.Met186Thr SP substitution exon 1 VAR_017261 P21802:p.Pro263Leu SP substitution exon 1 VAR_017263 P21802:p.Cys278Tyr SP substitution exon 1 VAR_017264 P21802:p.Tyr281Cys SP substitution exon 1 VAR_017265 P21802:p.Ile288Ser SP substitution exon 1 VAR_017266 P21802:p.Trp290Gly SP substitution exon 1 VAR_017267 P21802:p.Ala315Ser SP substitution exon 1 VAR_017268 P21802:p.Ala337Pro SP substitution exon 1 VAR_017269 P21802:p.Tyr340Cys SP substitution exon 1 VAR_017270 P21802:p.Cys342Gly SP substitution exon 1 VAR_017271 P21802:p.Cys342Trp SP substitution exon 1 VAR_017272 P21802:p.Ser354Tyr SP substitution exon 1 VAR_017273 P21802:p.Ala362Ser SP substitution exon 1 VAR_017274 P21802:p.Ser372Cys SP substitution exon 1 VAR_017275 P21802:p.Tyr375Cys SP substitution exon 1 VAR_017276 P21802:p.Asn549His SP substitution exon 1 VAR_017277 P21802:p.Glu565Gly SP substitution exon 1 VAR_017278 P21802:p.Lys641Arg SP substitution exon 1 VAR_017279 P21802:p.Lys659Asn SP substitution exon 1 VAR_017280 P21802:p.Gly663Glu SP substitution exon 1 VAR_017281 P21802:p.Arg678Gly SP substitution exon 1 VAR_017282 P18074:p.Thr76Ala SP substitution exon 1 VAR_017283 P18074:p.Leu485Pro SP substitution exon 1 VAR_017284 P18074:p.Arg487Gly SP substitution exon 1 VAR_017285 P18074:p.Arg511Gln SP substitution exon 1 VAR_017287 P18074:p.Arg592Pro SP substitution exon 1 VAR_017288 P18074:p.Ala594Pro SP substitution exon 1 VAR_017289 P18074:p.Arg601Trp SP substitution exon 1 VAR_017290 P18074:p.Arg658Gly SP substitution exon 1 VAR_017291 P18074:p.Cys663Arg SP substitution exon 1 VAR_017292 P18074:p.Arg666Trp SP substitution exon 1 VAR_017293 P18074:p.Asp681Asn SP substitution exon 1 VAR_017295 P16473:p.Leu467Pro SP substitution exon 1 VAR_017296 P16473:p.Thr477Ile SP substitution exon 1 VAR_017297 P16473:p.Cys600Arg SP substitution exon 1 VAR_017298 Q05066:p.Met64Arg SP substitution exon 1 VAR_017299 Q05066:p.Phe67Val SP substitution exon 1 VAR_017300 Q05066:p.Arg76Ser SP substitution exon 1 VAR_017301 Q05066:p.Asn87Tyr SP substitution exon 1 VAR_017302 Q05066:p.Gly95Glu SP substitution exon 1 VAR_017303 Q05066:p.Tyr127Phe SP substitution exon 1 VAR_017304 Q05066:p.Pro131Arg SP substitution exon 1 VAR_017305 Q9UG22:p.His161Arg SP substitution exon 1 VAR_017306 Q9NUV9:p.Glu128Asp SP substitution exon 1 VAR_017307 P00740:p.Ala37Thr SP substitution exon 1 VAR_017308 P00740:p.Arg75Gln SP substitution exon 1 VAR_017309 P00740:p.Glu79Asp SP substitution exon 1 VAR_017310 P00740:p.Val227Phe SP substitution exon 1 VAR_017311 P00740:p.Val228Phe SP substitution exon 1 VAR_017312 P00740:p.Cys252Ser SP substitution exon 1 VAR_017313 P00740:p.Cys268Trp SP substitution exon 1 VAR_017314 P00740:p.Glu291Val SP substitution exon 1 VAR_017315 P00740:p.Asn306Ser SP substitution exon 1 VAR_017316 P00740:p.Gly357Arg SP substitution exon 1 VAR_017317 P00740:p.Ala397Pro SP substitution exon 1 VAR_017318 P00740:p.Asp410His SP substitution exon 1 VAR_017319 P00740:p.Ser411Ile SP substitution exon 1 VAR_017320 P00740:p.Ser411Gly SP substitution exon 1 VAR_017321 P00740:p.Pro414Thr SP substitution exon 1 VAR_017322 P00740:p.Gly442Arg SP substitution exon 1 VAR_017323 P00740:p.Ile443Thr SP substitution exon 1 VAR_017324 P00740:p.Trp453Arg SP substitution exon 1 VAR_017325 O15120:p.Ala239Val SP substitution exon 1 VAR_017327 O15120:p.Leu228Pro SP substitution exon 1 VAR_017328 O15120:p.Gly136Arg SP substitution exon 1 VAR_017329 P12259:p.Arg2102His SP substitution exon 1 VAR_017330 P00451:p.Glu72Lys SP substitution exon 1 VAR_017331 P00451:p.Ala97Pro SP substitution exon 1 VAR_017332 P00451:p.Tyr155His SP substitution exon 1 VAR_017333 P00451:p.Val181Glu SP substitution exon 1 VAR_017334 P00451:p.Asn254Ile SP substitution exon 1 VAR_017335 P00451:p.Gly439Ser SP substitution exon 1 VAR_017336 P00451:p.Lys529Glu SP substitution exon 1 VAR_017337 P00451:p.Ile567Thr SP substitution exon 1 VAR_017338 P00451:p.Phe1804Ser SP substitution exon 1 VAR_017339 P00451:p.Ile2051Ser SP substitution exon 1 VAR_017340 P00451:p.Thr2141Asn SP substitution exon 1 VAR_017341 P00451:p.Cys2193Gly SP substitution exon 1 VAR_017343 P00740:p.Cys28Tyr SP substitution exon 1 VAR_017344 P00740:p.Leu52Ser SP substitution exon 1 VAR_017345 P00740:p.Thr84Arg SP substitution exon 1 VAR_017346 P00740:p.Gly106Asp SP substitution exon 1 VAR_017347 P00740:p.Glu124Lys SP substitution exon 1 VAR_017348 P00740:p.Gly125Arg SP substitution exon 1 VAR_017349 P00740:p.Cys134Tyr SP substitution exon 1 VAR_017350 P00740:p.Ser169Cys SP substitution exon 1 VAR_017351 P00740:p.Cys170Phe SP substitution exon 1 VAR_017352 P00740:p.Gln241Lys SP substitution exon 1 VAR_017353 P00740:p.Cys252Tyr SP substitution exon 1 VAR_017354 P00740:p.Leu318Arg SP substitution exon 1 VAR_017355 P00740:p.Pro333Thr SP substitution exon 1 VAR_017356 P00740:p.Ile344Leu SP substitution exon 1 VAR_017357 P00740:p.Leu383Ile SP substitution exon 1 VAR_017358 P00740:p.Leu383Phe SP substitution exon 1 VAR_017359 P00740:p.Phe395Ile SP substitution exon 1 VAR_017360 P00740:p.Phe395Leu SP substitution exon 1 VAR_017361 P00740:p.Cys396Phe SP substitution exon 1 VAR_017362 P00740:p.Cys407Arg SP substitution exon 1 VAR_017363 P00740:p.Gly412Glu SP substitution exon 1 VAR_017364 P00740:p.Cys435Tyr SP substitution exon 1 VAR_017365 P00740:p.Gly442Glu SP substitution exon 1 VAR_017366 O76090:p.Thr6Arg SP substitution exon 1 VAR_017367 O76090:p.Asn11Ile SP substitution exon 1 VAR_017368 O76090:p.Gly26Arg SP substitution exon 1 VAR_017369 O76090:p.Tyr29His SP substitution exon 1 VAR_017370 O76090:p.Lys30Arg SP substitution exon 1 VAR_017371 O76090:p.Leu41Pro SP substitution exon 1 VAR_017372 O76090:p.Arg47His SP substitution exon 1 VAR_017373 O76090:p.Phe80Leu SP substitution exon 1 VAR_017374 O76090:p.Val89Ala SP substitution exon 1 VAR_017375 O76090:p.Thr91Ile SP substitution exon 1 VAR_017376 O76090:p.Pro101Thr SP substitution exon 1 VAR_017377 O76090:p.Trp102Arg SP substitution exon 1 VAR_017378 O76090:p.Asp104His SP substitution exon 1 VAR_017379 O76090:p.Asn133Lys SP substitution exon 1 VAR_017380 O76090:p.Leu140Arg SP substitution exon 1 VAR_017381 O76090:p.Ala195Val SP substitution exon 1 VAR_017382 Q969X1:p.Pro21Leu SP substitution exon 1 VAR_017383 Q8WXU2:p.Pro2Ser SP substitution exon 1 VAR_017384 Q8WXU2:p.Val91Ile SP substitution exon 1 VAR_017385 Q8WXU2:p.Glu191Gly SP substitution exon 1 VAR_017386 Q8WXU2:p.Ser420Cys SP substitution exon 1 VAR_017388 P19878:p.Arg77Gln SP substitution exon 1 VAR_017389 P19878:p.Ala128Val SP substitution exon 1 VAR_017397 Q9C035:p.His43Tyr SP substitution exon 1 VAR_017398 Q9C035:p.Arg136Gln SP substitution exon 1 VAR_017399 Q9C029:p.Ala18Ser SP substitution exon 1 VAR_017400 Q9C029:p.Pro73Ser SP substitution exon 1 VAR_017401 Q9C029:p.Gln95Glu SP substitution exon 1 VAR_017404 Q7Z407:p.Ile219Met SP substitution exon 1 VAR_017405 Q7Z407:p.Val3000Leu SP substitution exon 1 VAR_017406 Q7Z407:p.Asn3621His SP substitution exon 1 VAR_017407 P43026:p.Cys400Tyr SP substitution exon 1 VAR_017408 P43026:p.Leu441Pro SP substitution exon 1 VAR_017410 Q9NSC5:p.Ser342Arg SP substitution exon 1 VAR_017412 O95361:p.Glu121Asp SP substitution exon 1 VAR_017413 O43488:p.Ala142Thr SP substitution exon 1 VAR_017414 O43488:p.Gln157His SP substitution exon 1 VAR_017415 O43488:p.Cys214Tyr SP substitution exon 1 VAR_017416 O95154:p.Val138Met SP substitution exon 1 VAR_017417 O95154:p.Asn215Asp SP substitution exon 1 VAR_017418 O95154:p.Thr323Ala SP substitution exon 1 VAR_017419 P05187:p.Pro25Leu SP substitution exon 1 VAR_017420 Q9UK53:p.Ala335Asp SP substitution exon 1 VAR_017421 Q9UK53:p.Cys358Ser SP substitution exon 1 VAR_017422 Q9UK53:p.Asn359Ser SP substitution exon 1 VAR_017423 O95295:p.Ser112Cys SP substitution exon 1 VAR_017425 Q9BQ52:p.Arg211Gln SP substitution exon 1 VAR_017426 Q9BQ52:p.Ser217Leu SP substitution exon 1 VAR_017427 Q9BQ52:p.Gly487Arg SP substitution exon 1 VAR_017428 Q9BQ52:p.Ala541Thr SP substitution exon 1 VAR_017429 Q9BQ52:p.Glu622Val SP substitution exon 1 VAR_017430 Q9BQ52:p.Ser627Leu SP substitution exon 1 VAR_017431 Q9BQ52:p.Arg781His SP substitution exon 1 VAR_017432 Q9BQ52:p.Gly806Arg SP substitution exon 1 VAR_017433 Q9UQ90:p.Thr503Ala SP substitution exon 1 VAR_017434 Q9UQ90:p.Arg688Gln SP substitution exon 1 VAR_017435 P35475:p.Ala300Thr SP substitution exon 1 VAR_017436 P35475:p.Leu346Arg SP substitution exon 1 VAR_017437 P35475:p.Arg619Gly SP substitution exon 1 VAR_017438 Q15049:p.Gly59Glu SP substitution exon 1 VAR_017439 Q15049:p.Pro92Ser SP substitution exon 1 VAR_017440 Q15049:p.Asn141Lys SP substitution exon 1 VAR_017441 Q15049:p.Asn141Ser SP substitution exon 1 VAR_017443 Q96SN8:p.Glu289Gln SP substitution exon 1 VAR_017445 Q969X6:p.Arg565Trp SP substitution exon 1 VAR_017446 O95153:p.Gln514Arg SP substitution exon 1 VAR_017447 O95153:p.Ala586Thr SP substitution exon 1 VAR_017448 O95153:p.His1118Leu SP substitution exon 1 VAR_017449 O95153:p.Ala1140Pro SP substitution exon 1 VAR_017450 O95153:p.Arg1253Cys SP substitution exon 1 VAR_017451 O95153:p.Gly1830Glu SP substitution exon 1 VAR_017452 P15153:p.Asp57Asn SP substitution exon 1 VAR_017453 Q14191:p.Lys32Arg SP substitution exon 1 VAR_017454 Q14191:p.Val114Ile SP substitution exon 1 VAR_017455 Q14191:p.Thr172Pro SP substitution exon 1 VAR_017456 Q14191:p.Asn240Lys SP substitution exon 1 VAR_017457 Q14191:p.Leu383Trp SP substitution exon 1 VAR_017458 Q14191:p.Gln724Leu SP substitution exon 1 VAR_017462 P51608:p.Leu100Val SP substitution exon 1 VAR_017463 P51608:p.Gly428Ser SP substitution exon 1 VAR_017464 P14136:p.Pro47Leu SP substitution exon 1 VAR_017465 P14136:p.Leu76Phe SP substitution exon 1 VAR_017466 P14136:p.Asn77Tyr SP substitution exon 1 VAR_017467 P14136:p.Arg79Cys SP substitution exon 1 VAR_017468 P14136:p.Arg79His SP substitution exon 1 VAR_017469 P14136:p.Arg88Cys SP substitution exon 1 VAR_017470 P14136:p.Arg88Ser SP substitution exon 1 VAR_017471 P14136:p.Arg239Cys SP substitution exon 1 VAR_017472 P14136:p.Arg239His SP substitution exon 1 VAR_017473 P14136:p.Ala244Val SP substitution exon 1 VAR_017474 P14136:p.Arg258Pro SP substitution exon 1 VAR_017475 P14136:p.Glu362Asp SP substitution exon 1 VAR_017476 P14136:p.Arg416Trp SP substitution exon 1 VAR_017477 P14136:p.Asp78Glu SP substitution exon 1 VAR_017478 P14136:p.Glu223Gln SP substitution exon 1 VAR_017479 P14136:p.Asp295Asn SP substitution exon 1 VAR_017480 O60237:p.Val182Ile SP substitution exon 1 VAR_017481 Q9UNZ2:p.Asp290Asn SP substitution exon 1 VAR_017482 O14832:p.Pro29Ser SP substitution exon 1 VAR_017483 O14832:p.Pro173Ser SP substitution exon 1 VAR_017484 O14832:p.Gln176Lys SP substitution exon 1 VAR_017485 O14832:p.Asp177Gly SP substitution exon 1 VAR_017486 O14832:p.Trp193Arg SP substitution exon 1 VAR_017487 O14832:p.Glu197Gln SP substitution exon 1 VAR_017488 O14832:p.Ile199Phe SP substitution exon 1 VAR_017489 O14832:p.Gly204Ser SP substitution exon 1 VAR_017490 O14832:p.His220Tyr SP substitution exon 1 VAR_017495 O15287:p.Leu71Pro SP substitution exon 1 VAR_017496 O15360:p.Thr266Ala SP substitution exon 1 VAR_017497 O15360:p.Asp598Asn SP substitution exon 1 VAR_017498 O15360:p.Ser858Arg SP substitution exon 1 VAR_017499 O15360:p.Arg1055Trp SP substitution exon 1 VAR_017500 O15360:p.Leu1082Pro SP substitution exon 1 VAR_017501 O15360:p.Ser1088Phe SP substitution exon 1 VAR_017502 O15360:p.Phe1262Leu SP substitution exon 1 VAR_017503 O15360:p.Asp1359Tyr SP substitution exon 1 VAR_017504 O15360:p.Met1360Ile SP substitution exon 1 VAR_017505 O15360:p.Pro1324Leu SP substitution exon 1 VAR_017508 Q9NPC4:p.Gly187Asp SP substitution exon 1 VAR_017509 Q9NPC4:p.Pro251Leu SP substitution exon 1 VAR_017510 P51648:p.Ile45Phe SP substitution exon 1 VAR_017511 P51648:p.Val64Asp SP substitution exon 1 VAR_017512 P51648:p.Pro114Leu SP substitution exon 1 VAR_017513 P51648:p.Pro121Leu SP substitution exon 1 VAR_017514 P51648:p.Thr184Met SP substitution exon 1 VAR_017515 P51648:p.Thr184Arg SP substitution exon 1 VAR_017516 P51648:p.Gly185Ala SP substitution exon 1 VAR_017517 P51648:p.Arg228Cys SP substitution exon 1 VAR_017518 P51648:p.Cys237Tyr SP substitution exon 1 VAR_017519 P51648:p.Lys266Asn SP substitution exon 1 VAR_017520 P51648:p.Tyr279Asn SP substitution exon 1 VAR_017529 O95477:p.Pro85Leu SP substitution exon 1 VAR_017530 O95477:p.Asp1099Tyr SP substitution exon 1 VAR_017531 P43681:p.Ser280Leu SP substitution exon 1 VAR_017532 P16615:p.Pro602Leu SP substitution exon 1 VAR_017533 P23760:p.Gly48Arg SP substitution exon 1 VAR_017534 P23760:p.Val78Met SP substitution exon 1 VAR_017535 P23760:p.Tyr90His SP substitution exon 1 VAR_017536 P23760:p.Trp266Cys SP substitution exon 1 VAR_017537 P23760:p.Arg271Cys SP substitution exon 1 VAR_017538 P23760:p.Arg271His SP substitution exon 1 VAR_017539 P23760:p.Arg273Lys SP substitution exon 1 VAR_017540 P26367:p.Pro68Ser SP substitution exon 1 VAR_017541 P26367:p.Arg125Cys SP substitution exon 1 VAR_017542 P26367:p.Phe258Ser SP substitution exon 1 VAR_017543 P26367:p.Ser292Ile SP substitution exon 1 VAR_017544 P26367:p.Ser363Pro SP substitution exon 1 VAR_017545 P26367:p.Gln378Arg SP substitution exon 1 VAR_017546 P26367:p.Met381Val SP substitution exon 1 VAR_017547 P26367:p.Thr391Ala SP substitution exon 1 VAR_017550 P21359:p.Ala74Asp SP substitution exon 1 VAR_017551 P21359:p.Cys93Tyr SP substitution exon 1 VAR_017552 P21359:p.Asp176Glu SP substitution exon 1 VAR_017553 P21359:p.Leu604Val SP substitution exon 1 VAR_017554 P21359:p.His712Arg SP substitution exon 1 VAR_017555 P21359:p.Arg1276Gln SP substitution exon 1 VAR_017556 Q9HCJ1:p.Met48Thr SP substitution exon 1 VAR_017558 Q9ULV5:p.Ala19Asp SP substitution exon 1 VAR_017559 Q9ULV5:p.Ile86Val SP substitution exon 1 VAR_017560 Q9ULV5:p.Leu114Pro SP substitution exon 1 VAR_017561 Q9ULV5:p.Arg119Cys SP substitution exon 1 VAR_017562 P31327:p.Val457Gly SP substitution exon 1 VAR_017563 P31327:p.Gln810Arg SP substitution exon 1 VAR_017564 P31327:p.Leu843Ser SP substitution exon 1 VAR_017565 P31327:p.Lys875Glu SP substitution exon 1 VAR_017570 O00186:p.Glu433Gly SP substitution exon 1 VAR_017571 O00186:p.Cys546Gly SP substitution exon 1 VAR_017572 P04424:p.Val178Met SP substitution exon 1 VAR_017573 P04424:p.Arg379Cys SP substitution exon 1 VAR_017574 P04424:p.Arg385Cys SP substitution exon 1 VAR_017575 Q96ED9:p.Gly10Arg SP substitution exon 1 VAR_017576 Q96ED9:p.His488Gln SP substitution exon 1 VAR_017577 P15260:p.Cys77Tyr SP substitution exon 1 VAR_017578 P15260:p.Ile87Thr SP substitution exon 1 VAR_017580 Q13477:p.Pro300His SP substitution exon 1 VAR_017581 P51608:p.Glu137Gly SP substitution exon 1 VAR_017582 Q96EP1:p.Pro166Leu SP substitution exon 1 VAR_017583 Q96EP1:p.Arg202Pro SP substitution exon 1 VAR_017584 Q96EP1:p.Gly270Arg SP substitution exon 1 VAR_017585 Q96EP1:p.Ala497Val SP substitution exon 1 VAR_017586 Q96EP1:p.Phe536Ser SP substitution exon 1 VAR_017587 Q96EP1:p.Val580Met SP substitution exon 1 VAR_017588 Q96J92:p.Glu562Lys SP substitution exon 1 VAR_017589 Q96J92:p.Asp564Ala SP substitution exon 1 VAR_017590 Q96J92:p.Gln565Glu SP substitution exon 1 VAR_017592 P60328:p.His17Arg SP substitution exon 1 VAR_017593 Q9UMD9:p.Thr210Met SP substitution exon 1 VAR_017594 Q9UMD9:p.Met231Ile SP substitution exon 1 VAR_017595 Q9UMD9:p.Met238Thr SP substitution exon 1 VAR_017596 Q9UMD9:p.Ser265Cys SP substitution exon 1 VAR_017597 Q9UMD9:p.Gly428Ser SP substitution exon 1 VAR_017598 Q9UMD9:p.Gly627Val SP substitution exon 1 VAR_017599 Q9UMD9:p.Gly633Asp SP substitution exon 1 VAR_017600 Q9UMD9:p.Met703Val SP substitution exon 1 VAR_017601 Q9UMD9:p.Arg1303Gln SP substitution exon 1 VAR_017602 Q9UMD9:p.Asp1370Gly SP substitution exon 1 VAR_017603 P60331:p.Pro39Leu SP substitution exon 1 VAR_017604 P55265:p.Leu923Pro SP substitution exon 1 VAR_017606 P37173:p.Val191Ile SP substitution exon 1 VAR_017607 P01137:p.Tyr81His SP substitution exon 1 VAR_017608 P01137:p.Arg218Cys SP substitution exon 1 VAR_017609 P01137:p.Arg218His SP substitution exon 1 VAR_017610 P01137:p.His222Asp SP substitution exon 1 VAR_017611 P01137:p.Cys225Arg SP substitution exon 1 VAR_017612 P35222:p.Ser23Arg SP substitution exon 1 VAR_017614 P35222:p.Asp32Ala SP substitution exon 1 VAR_017615 P35222:p.Asp32Gly SP substitution exon 1 VAR_017616 P35222:p.Asp32Tyr SP substitution exon 1 VAR_017617 P35222:p.Ser33Phe SP substitution exon 1 VAR_017618 P35222:p.Ser33Leu SP substitution exon 1 VAR_017619 P35222:p.Ser33Tyr SP substitution exon 1 VAR_017620 P35222:p.Gly34Glu SP substitution exon 1 VAR_017621 P35222:p.Gly34Arg SP substitution exon 1 VAR_017622 P35222:p.Gly34Val SP substitution exon 1 VAR_017623 P35222:p.Ile35Ser SP substitution exon 1 VAR_017624 P35222:p.Ser37Ala SP substitution exon 1 VAR_017625 P35222:p.Ser37Cys SP substitution exon 1 VAR_017626 P35222:p.Ser37Phe SP substitution exon 1 VAR_017627 P35222:p.Ser37Tyr SP substitution exon 1 VAR_017629 P35222:p.Thr41Ala SP substitution exon 1 VAR_017630 P35222:p.Thr41Ile SP substitution exon 1 VAR_017631 P35222:p.Ser45Phe SP substitution exon 1 VAR_017632 P35222:p.Ser45Pro SP substitution exon 1 VAR_017633 Q8IWS0:p.Cys45Tyr SP substitution exon 1 VAR_017634 Q8IWS0:p.Cys99Phe SP substitution exon 1 VAR_017635 Q8IWS0:p.His229Arg SP substitution exon 1 VAR_017636 Q8IWS0:p.Lys234Glu SP substitution exon 1 VAR_017637 Q8IWS0:p.Arg257Gly SP substitution exon 1 VAR_017638 P02458:p.Thr9Ser SP substitution exon 1 VAR_017639 P02458:p.Gly453Asp SP substitution exon 1 VAR_017640 P02458:p.Gly453Val SP substitution exon 1 VAR_017641 P02458:p.Gly771Asp SP substitution exon 1 VAR_017642 P02458:p.Gly780Arg SP substitution exon 1 VAR_017643 P02458:p.Gly795Arg SP substitution exon 1 VAR_017644 P02458:p.Gly894Glu SP substitution exon 1 VAR_017645 P02458:p.Arg904Cys SP substitution exon 1 VAR_017646 P02458:p.Gly948Asp SP substitution exon 1 VAR_017647 P02458:p.Gly981Ser SP substitution exon 1 VAR_017649 P02458:p.Gly1065Val SP substitution exon 1 VAR_017650 P02458:p.Gly1119Arg SP substitution exon 1 VAR_017651 P02458:p.Gly1173Arg SP substitution exon 1 VAR_017652 P02458:p.Val1331Ile SP substitution exon 1 VAR_017653 P25054:p.Ala1296Val SP substitution exon 1 VAR_017654 P25054:p.Val1472Ile SP substitution exon 1 VAR_017655 P25054:p.Ser1495Gly SP substitution exon 1 VAR_017656 P02545:p.Ala57Pro SP substitution exon 1 VAR_017657 P02545:p.Arg133Pro SP substitution exon 1 VAR_017658 P02545:p.Leu140Arg SP substitution exon 1 VAR_017659 P02545:p.Glu145Lys SP substitution exon 1 VAR_017660 P02545:p.Glu161Lys SP substitution exon 1 VAR_017661 P02545:p.Arg298Cys SP substitution exon 1 VAR_017662 P02545:p.Arg471Cys SP substitution exon 1 VAR_017663 P02545:p.Arg527Cys SP substitution exon 1 VAR_017664 P02545:p.Gly608Ser SP substitution exon 1 VAR_017665 P35680:p.Ser465Arg SP substitution exon 1 VAR_017666 P07911:p.Gly103Cys SP substitution exon 1 VAR_017667 P07911:p.Cys148Tyr SP substitution exon 1 VAR_017668 P07911:p.Cys217Arg SP substitution exon 1 VAR_017669 P21359:p.Leu2088Pro SP substitution exon 1 VAR_017670 Q14524:p.Thr220Ile SP substitution exon 1 VAR_017671 Q14524:p.Gly298Ser SP substitution exon 1 VAR_017672 Q14524:p.Arg367His SP substitution exon 1 VAR_017673 Q14524:p.Gly514Cys SP substitution exon 1 VAR_017674 Q14524:p.Ala735Val SP substitution exon 1 VAR_017675 Q14524:p.Ser941Asn SP substitution exon 1 VAR_017676 Q14524:p.Ala997Ser SP substitution exon 1 VAR_017677 Q14524:p.Ser1103Tyr SP substitution exon 1 VAR_017678 Q14524:p.Arg1193Gln SP substitution exon 1 VAR_017679 Q14524:p.Arg1232Trp SP substitution exon 1 VAR_017680 Q14524:p.Pro1298Leu SP substitution exon 1 VAR_017681 Q14524:p.Gly1408Arg SP substitution exon 1 VAR_017682 Q14524:p.Arg1512Trp SP substitution exon 1 VAR_017683 Q14524:p.Asp1595Asn SP substitution exon 1 VAR_017684 Q14524:p.Thr1620Met SP substitution exon 1 VAR_017685 Q14524:p.Ser1710Leu SP substitution exon 1 VAR_017687 Q14524:p.Arg1826His SP substitution exon 1 VAR_017688 Q14524:p.Ala1924Thr SP substitution exon 1 VAR_017689 Q9UBT2:p.Leu307Arg SP substitution exon 1 VAR_017690 P60368:p.Asn15Asp SP substitution exon 1 VAR_017691 P60368:p.Pro107Thr SP substitution exon 1 VAR_017692 P60368:p.Ala117Pro SP substitution exon 1 VAR_017693 P60368:p.Arg241Gly SP substitution exon 1 VAR_017694 P60372:p.Arg62Cys SP substitution exon 1 VAR_017695 P60372:p.Ile159Val SP substitution exon 1 VAR_017696 P60370:p.Asp20Asn SP substitution exon 1 VAR_017697 P60370:p.Val235Leu SP substitution exon 1 VAR_017739 P60411:p.Tyr182Cys SP substitution exon 1 VAR_017744 P20936:p.Cys540Tyr SP substitution exon 1 VAR_017745 P12883:p.Asp107Glu SP substitution exon 1 VAR_017746 P12883:p.Ala223Thr SP substitution exon 1 VAR_017747 P12883:p.Ser532Pro SP substitution exon 1 VAR_017748 P12883:p.Ser642Leu SP substitution exon 1 VAR_017749 P12883:p.Arg719Gln SP substitution exon 1 VAR_017750 P12883:p.Ala728Val SP substitution exon 1 VAR_017751 P12883:p.Phe764Leu SP substitution exon 1 VAR_017753 P12883:p.Ala1124Ser SP substitution exon 1 VAR_017754 P12883:p.Arg1845Trp SP substitution exon 1 VAR_017755 P60014:p.Thr72Pro SP substitution exon 1 VAR_017756 Q13136:p.Val71Ile SP substitution exon 1 VAR_017757 O75145:p.Ala563Ser SP substitution exon 1 VAR_017758 Q86W92:p.Val148Leu SP substitution exon 1 VAR_017759 Q7Z7G8:p.Leu2193Arg SP substitution exon 1 VAR_017760 P48960:p.Arg367Gln SP substitution exon 1 VAR_017775 P31271:p.Gln371Leu SP substitution exon 1 VAR_017776 P31271:p.Asn372His SP substitution exon 1 VAR_017778 P00352:p.Ile177Phe SP substitution exon 1 VAR_017779 Q7Z6W7:p.Glu41Ala SP substitution exon 1 VAR_017780 Q92904:p.Thr12Ala SP substitution exon 1 VAR_017781 Q92904:p.Thr54Ala SP substitution exon 1 VAR_017785 P35499:p.Ser246Leu SP substitution exon 1 VAR_017786 P35499:p.Val445Met SP substitution exon 1 VAR_017787 P35499:p.Asn559Asp SP substitution exon 1 VAR_017788 P35499:p.Arg669His SP substitution exon 1 VAR_017789 P35499:p.Arg672Gly SP substitution exon 1 VAR_017790 P35499:p.Arg672His SP substitution exon 1 VAR_017791 P35499:p.Arg672Ser SP substitution exon 1 VAR_017792 P35499:p.Pro1158Ser SP substitution exon 1 VAR_017793 P35499:p.Ile1160Val SP substitution exon 1 VAR_017794 P35499:p.Asn1376Asp SP substitution exon 1 VAR_017795 P35499:p.Val1442Glu SP substitution exon 1 VAR_017796 P40818:p.Asp443Gly SP substitution exon 1 VAR_017797 P40818:p.Ala827Gly SP substitution exon 1 VAR_017801 Q14264:p.Thr90Ile SP substitution exon 1 VAR_017802 Q14264:p.Cys192Tyr SP substitution exon 1 VAR_017803 Q14264:p.Tyr236Cys SP substitution exon 1 VAR_017804 Q14264:p.Asn481Ser SP substitution exon 1 VAR_017805 Q14264:p.Leu522Pro SP substitution exon 1 VAR_017806 Q14264:p.Asn569Ser SP substitution exon 1 VAR_017807 Q8TF05:p.Glu43Lys SP substitution exon 1 VAR_017808 Q8TF05:p.Ile470Val SP substitution exon 1 VAR_017809 Q8TF05:p.Ser595Asn SP substitution exon 1 VAR_017810 Q13426:p.Gln240Pro SP substitution exon 1 VAR_017811 Q13426:p.Ala247Ser SP substitution exon 1 VAR_017812 Q969H0:p.Glu115Lys SP substitution exon 1 VAR_017813 Q969H0:p.Arg133Gly SP substitution exon 1 VAR_017814 Q969H0:p.Thr144Arg SP substitution exon 1 VAR_017815 Q969H0:p.Arg465Cys SP substitution exon 1 VAR_017816 Q969H0:p.Arg505Leu SP substitution exon 1 VAR_017817 Q969H0:p.Ser668Gly SP substitution exon 1 VAR_017818 P23771:p.Trp274Arg SP substitution exon 1 VAR_017819 P04264:p.Lys74Ile SP substitution exon 1 VAR_017820 P04264:p.Val155Asp SP substitution exon 1 VAR_017821 P04264:p.Asn188Lys SP substitution exon 1 VAR_017822 P04264:p.Asn188Thr SP substitution exon 1 VAR_017823 P04264:p.Leu214Pro SP substitution exon 1 VAR_017824 P04264:p.Asp340Val SP substitution exon 1 VAR_017825 P04264:p.Ile479Phe SP substitution exon 1 VAR_017826 P04264:p.Ile479Thr SP substitution exon 1 VAR_017827 P04264:p.Tyr482Cys SP substitution exon 1 VAR_017828 P04264:p.Leu486Pro SP substitution exon 1 VAR_017829 P35908:p.Asn186Lys SP substitution exon 1 VAR_017830 Q96KN7:p.Lys192Glu SP substitution exon 1 VAR_017831 Q96KN7:p.Ala547Ser SP substitution exon 1 VAR_017832 Q96KN7:p.Ser601Leu SP substitution exon 1 VAR_017833 Q96KN7:p.Gly746Glu SP substitution exon 1 VAR_017837 Q9HC16:p.His186Arg SP substitution exon 1 VAR_017838 P51798:p.Arg762Gln SP substitution exon 1 VAR_017839 P51798:p.Leu766Pro SP substitution exon 1 VAR_017840 P51798:p.Arg767Trp SP substitution exon 1 VAR_017841 Q14739:p.Pro119Leu SP substitution exon 1 VAR_017842 Q14739:p.Pro569Arg SP substitution exon 1 VAR_017843 P63092:p.Pro115Leu SP substitution exon 1 VAR_017844 P63092:p.Arg201Gly SP substitution exon 1 VAR_017845 P63092:p.Arg201Leu SP substitution exon 1 VAR_017846 P63092:p.Arg201Ser SP substitution exon 1 VAR_017847 P63092:p.Gln227His SP substitution exon 1 VAR_017848 P63092:p.Arg231His SP substitution exon 1 VAR_017849 P63092:p.Ser250Arg SP substitution exon 1 VAR_017851 P63252:p.Arg67Trp SP substitution exon 1 VAR_017852 P63252:p.Asp71Val SP substitution exon 1 VAR_017854 P63252:p.Pro186Leu SP substitution exon 1 VAR_017855 P63252:p.Asn216His SP substitution exon 1 VAR_017856 P63252:p.Arg218Trp SP substitution exon 1 VAR_017857 P63252:p.Gly300Val SP substitution exon 1 VAR_017858 P63252:p.Val302Met SP substitution exon 1 VAR_017863 O75354:p.Leu138Val SP substitution exon 1 VAR_017864 Q9NXW2:p.Glu304Lys SP substitution exon 1 VAR_017865 O75462:p.Arg81His SP substitution exon 1 VAR_017866 O75462:p.Leu374Arg SP substitution exon 1 VAR_017867 Q8IUE1:p.Val197Ile SP substitution exon 1 VAR_017868 P21912:p.Pro197Arg SP substitution exon 1 VAR_017869 P21912:p.Arg242His SP substitution exon 1 VAR_017870 O14521:p.Gly12Ser SP substitution exon 1 VAR_017871 O14521:p.His50Arg SP substitution exon 1 VAR_017872 O14521:p.Tyr114Cys SP substitution exon 1 VAR_017873 O14521:p.Leu139Pro SP substitution exon 1 VAR_017874 P50219:p.Arg245Gly SP substitution exon 1 VAR_017875 P50219:p.Arg245His SP substitution exon 1 VAR_017876 P50219:p.Thr246Ser SP substitution exon 1 VAR_017883 Q15465:p.Ile111Phe SP substitution exon 1 VAR_017885 P11362:p.Gly97Asp SP substitution exon 1 VAR_017886 P11362:p.Tyr99Cys SP substitution exon 1 VAR_017887 P11362:p.Ala167Ser SP substitution exon 1 VAR_017888 P11362:p.Cys277Tyr SP substitution exon 1 VAR_017889 P11362:p.Val607Met SP substitution exon 1 VAR_017890 P11362:p.Trp666Arg SP substitution exon 1 VAR_017891 P11362:p.Met719Arg SP substitution exon 1 VAR_017892 P11362:p.Pro772Ser SP substitution exon 1 VAR_017893 P25067:p.Gly3Arg SP substitution exon 1 VAR_017894 P25067:p.Arg155Gln SP substitution exon 1 VAR_017895 P25067:p.Arg304Gln SP substitution exon 1 VAR_017896 P25067:p.Gly357Arg SP substitution exon 1 VAR_017897 P25067:p.Arg434His SP substitution exon 1 VAR_017898 P25067:p.Gln455Lys SP substitution exon 1 VAR_017899 P25067:p.Pro575Leu SP substitution exon 1 VAR_017901 Q8N302:p.Glu133Lys SP substitution exon 1 VAR_017902 Q8N302:p.Pro698Thr SP substitution exon 1 VAR_017903 Q8TDZ2:p.Ala758Glu SP substitution exon 1 VAR_017904 Q9BV10:p.Thr67Met SP substitution exon 1 VAR_017905 Q9BV10:p.Phe142Val SP substitution exon 1 VAR_017906 Q9BV10:p.Arg146Gln SP substitution exon 1 VAR_017907 Q9BV10:p.Leu158Pro SP substitution exon 1 VAR_017908 P04637:p.Ile254Asn SP substitution exon 1 VAR_017909 P04637:p.Ile254Thr SP substitution exon 1 VAR_017910 Q9Y653:p.Ser281Arg SP substitution exon 1 VAR_017911 Q9Y653:p.Gln306His SP substitution exon 1 VAR_017912 O75916:p.Trp299Arg SP substitution exon 1 VAR_017913 P16671:p.Pro90Ser SP substitution exon 1 VAR_017914 P16671:p.Glu123Lys SP substitution exon 1 VAR_017915 P16671:p.Thr174Ala SP substitution exon 1 VAR_017917 P16671:p.Phe254Leu SP substitution exon 1 VAR_017918 P16671:p.Ile271Thr SP substitution exon 1 VAR_017920 Q9HBB8:p.Arg357Ser SP substitution exon 1 VAR_017921 Q9HBB8:p.Asp389Asn SP substitution exon 1 VAR_017922 P29965:p.Thr147Asn SP substitution exon 1 VAR_017923 P29965:p.Tyr170Cys SP substitution exon 1 VAR_017924 P29965:p.Leu258Ser SP substitution exon 1 VAR_017925 P29965:p.Gly38Arg SP substitution exon 1 VAR_017926 P29965:p.His125Arg SP substitution exon 1 VAR_017927 P29965:p.Gln174Arg SP substitution exon 1 VAR_017928 P29965:p.Gly257Ser SP substitution exon 1 VAR_017929 P29965:p.Gly116Arg SP substitution exon 1 VAR_017930 P29965:p.Gly116Ser SP substitution exon 1 VAR_017931 P29965:p.Val126Asp SP substitution exon 1 VAR_017932 P29965:p.Lys143Thr SP substitution exon 1 VAR_017933 P29965:p.Ala173Asp SP substitution exon 1 VAR_017934 P29965:p.Thr176Ile SP substitution exon 1 VAR_017935 P29965:p.Leu195Pro SP substitution exon 1 VAR_017936 P29965:p.Ala208Asp SP substitution exon 1 VAR_017937 P29965:p.His224Tyr SP substitution exon 1 VAR_017938 P29965:p.Gly226Ala SP substitution exon 1 VAR_017939 P29965:p.Val237Glu SP substitution exon 1 VAR_017940 P29965:p.Gly257Asp SP substitution exon 1 VAR_017941 Q8N2C9:p.Val98Phe SP substitution exon 1 VAR_017942 Q8WW38:p.Glu30Gly SP substitution exon 1 VAR_017943 Q8WW38:p.Ser657Gly SP substitution exon 1 VAR_017944 Q8WW38:p.Glu782Asp SP substitution exon 1 VAR_017945 Q9Y223:p.Pro36Leu SP substitution exon 1 VAR_017946 Q9Y223:p.Ile200Phe SP substitution exon 1 VAR_017947 Q9Y223:p.Asp225Asn SP substitution exon 1 VAR_017948 Q9Y223:p.Arg246Gln SP substitution exon 1 VAR_017949 Q9Y223:p.Arg246Trp SP substitution exon 1 VAR_017950 Q9Y223:p.Arg263Leu SP substitution exon 1 VAR_017951 Q9Y223:p.Arg266Gln SP substitution exon 1 VAR_017952 Q9Y223:p.Arg266Trp SP substitution exon 1 VAR_017953 Q9Y223:p.Cys303Val SP substitution exon 1 VAR_017954 Q9Y223:p.Asp378Tyr SP substitution exon 1 VAR_017955 Q9Y223:p.Ala460Val SP substitution exon 1 VAR_017956 Q9Y223:p.Ala524Val SP substitution exon 1 VAR_017957 Q9Y223:p.Phe528Cys SP substitution exon 1 VAR_017958 Q9Y223:p.Ile557Thr SP substitution exon 1 VAR_017959 Q9Y223:p.Val572Leu SP substitution exon 1 VAR_017960 Q9Y223:p.Gly576Glu SP substitution exon 1 VAR_017961 Q9Y223:p.Ile587Thr SP substitution exon 1 VAR_017962 Q9Y223:p.Ala631Thr SP substitution exon 1 VAR_017963 Q9Y223:p.Ala631Val SP substitution exon 1 VAR_017964 Q9Y223:p.Tyr675His SP substitution exon 1 VAR_017965 Q9Y223:p.Val696Met SP substitution exon 1 VAR_017966 Q9Y223:p.Met712Thr SP substitution exon 1 VAR_018045 P23945:p.Ile160Thr SP substitution exon 1 VAR_018046 P23945:p.Ala189Val SP substitution exon 1 VAR_018047 P23945:p.Ala419Thr SP substitution exon 1 VAR_018048 P23945:p.Arg573Cys SP substitution exon 1 VAR_018049 P23945:p.Phe591Ser SP substitution exon 1 VAR_018052 Q9HB55:p.Pro340Ala SP substitution exon 1 VAR_018069 O75695:p.Cys67Tyr SP substitution exon 1 VAR_018070 O75695:p.Cys86Tyr SP substitution exon 1 VAR_018071 O75695:p.Pro95Leu SP substitution exon 1 VAR_018072 O75695:p.Arg118Leu SP substitution exon 1 VAR_018074 O75695:p.Glu138Gly SP substitution exon 1 VAR_018075 O75695:p.Leu188Pro SP substitution exon 1 VAR_018078 P10253:p.Cys103Gly SP substitution exon 1 VAR_018079 P10253:p.Gly219Arg SP substitution exon 1 VAR_018080 P10253:p.Pro285Arg SP substitution exon 1 VAR_018081 P10253:p.Tyr292Cys SP substitution exon 1 VAR_018082 P10253:p.Gly293Arg SP substitution exon 1 VAR_018083 P10253:p.His308Pro SP substitution exon 1 VAR_018084 P10253:p.Gly309Arg SP substitution exon 1 VAR_018085 P10253:p.Leu312Arg SP substitution exon 1 VAR_018086 P10253:p.Leu355Pro SP substitution exon 1 VAR_018087 P10253:p.Cys374Arg SP substitution exon 1 VAR_018088 P10253:p.Leu405Pro SP substitution exon 1 VAR_018089 P10253:p.Tyr455Phe SP substitution exon 1 VAR_018091 P10253:p.Gly549Arg SP substitution exon 1 VAR_018092 P10253:p.Leu552Pro SP substitution exon 1 VAR_018093 P10253:p.Tyr575Ser SP substitution exon 1 VAR_018094 P10253:p.Glu579Lys SP substitution exon 1 VAR_018095 P10253:p.Arg600Cys SP substitution exon 1 VAR_018096 P10253:p.Gly607Asp SP substitution exon 1 VAR_018097 P10253:p.Ala880Asp SP substitution exon 1 VAR_018098 O94813:p.Ser636Pro SP substitution exon 1 VAR_018099 O94813:p.Ser1277Phe SP substitution exon 1 VAR_018100 P60484:p.Asp19Asn SP substitution exon 1 VAR_018101 P60484:p.His61Asp SP substitution exon 1 VAR_018102 P60484:p.Leu70Pro SP substitution exon 1 VAR_018103 P60484:p.Ala121Gly SP substitution exon 1 VAR_018104 P60484:p.Cys124Ser SP substitution exon 1 VAR_018105 P60484:p.Val217Ile SP substitution exon 1 VAR_018106 P60484:p.Arg234Gln SP substitution exon 1 VAR_018107 Q8IV48:p.Leu16Pro SP substitution exon 1 VAR_018109 Q9NQW8:p.Cys234Trp SP substitution exon 1 VAR_018110 Q9NQW8:p.Thr298Pro SP substitution exon 1 VAR_018111 Q9NQW8:p.Ser435Phe SP substitution exon 1 VAR_018112 Q9NQW8:p.Glu755Gly SP substitution exon 1 VAR_018113 Q14533:p.Gly52Arg SP substitution exon 1 VAR_018114 Q14533:p.Leu248Arg SP substitution exon 1 VAR_018115 Q14533:p.Arg316Cys SP substitution exon 1 VAR_018116 Q14533:p.Glu402Lys SP substitution exon 1 VAR_018117 Q14533:p.Glu413Lys SP substitution exon 1 VAR_018118 Q9NSB4:p.Thr458Met SP substitution exon 1 VAR_018119 P78385:p.Arg149Cys SP substitution exon 1 VAR_018120 P78385:p.Ile279Met SP substitution exon 1 VAR_018121 P78385:p.His493Tyr SP substitution exon 1 VAR_018122 Q9NSB2:p.Arg184Gln SP substitution exon 1 VAR_018123 Q9NSB2:p.Ile206Val SP substitution exon 1 VAR_018124 Q9NSB2:p.Cys446Arg SP substitution exon 1 VAR_018125 O43790:p.Asn114Asp SP substitution exon 1 VAR_018126 O43790:p.Glu402Gln SP substitution exon 1 VAR_018127 O43790:p.Glu402Lys SP substitution exon 1 VAR_018128 O43790:p.Glu413Lys SP substitution exon 1 VAR_018129 O43790:p.Glu413Asp SP substitution exon 1 VAR_018130 P51810:p.Arg5Cys SP substitution exon 1 VAR_018131 P51810:p.Leu39Arg SP substitution exon 1 VAR_018132 P51810:p.Asp78Asn SP substitution exon 1 VAR_018133 P51810:p.Asp78Val SP substitution exon 1 VAR_018134 P51810:p.Cys116Ser SP substitution exon 1 VAR_018135 P51810:p.Gln124Arg SP substitution exon 1 VAR_018136 P51810:p.Gly229Val SP substitution exon 1 VAR_018137 P51810:p.Glu233Lys SP substitution exon 1 VAR_018138 P51810:p.Ile244Val SP substitution exon 1 VAR_018139 P51810:p.Ile261Asn SP substitution exon 1 VAR_018140 P51810:p.Glu271Gly SP substitution exon 1 VAR_018141 P51810:p.Trp292Cys SP substitution exon 1 VAR_018142 Q9UH17:p.Lys62Glu SP substitution exon 1 VAR_018143 Q9UH17:p.Pro98Leu SP substitution exon 1 VAR_018144 Q9UH17:p.Thr146Lys SP substitution exon 1 VAR_018145 Q8IUX4:p.Gln61Leu SP substitution exon 1 VAR_018146 Q8IUX4:p.Pro97Leu SP substitution exon 1 VAR_018147 Q8IUX4:p.Ala108Ser SP substitution exon 1 VAR_018149 Q9Y276:p.Ser78Gly SP substitution exon 1 VAR_018150 Q12948:p.Met161Lys SP substitution exon 1 VAR_018151 Q16518:p.Tyr431Cys SP substitution exon 1 VAR_018153 P07949:p.Arg67His SP substitution exon 1 VAR_018154 P07949:p.Arg114His SP substitution exon 1 VAR_018155 P07949:p.Ala432Glu SP substitution exon 1 VAR_018156 P07949:p.Asp489Asn SP substitution exon 1 VAR_018157 P07949:p.Pro1039Leu SP substitution exon 1 VAR_018158 P15924:p.Gly2375Arg SP substitution exon 1 VAR_018159 Q9Y276:p.Pro99Leu SP substitution exon 1 VAR_018160 Q9Y276:p.Arg144Gln SP substitution exon 1 VAR_018161 Q9Y276:p.Arg155Pro SP substitution exon 1 VAR_018162 Q9Y276:p.Ser277Asn SP substitution exon 1 VAR_018163 Q9Y276:p.Val327Ala SP substitution exon 1 VAR_018164 Q9Y276:p.Val353Met SP substitution exon 1 VAR_018165 Q8WUJ3:p.Arg187Cys SP substitution exon 1 VAR_018166 Q8WUJ3:p.Arg187His SP substitution exon 1 VAR_018167 Q8WUJ3:p.His783Arg SP substitution exon 1 VAR_018168 Q8WUJ3:p.His783Tyr SP substitution exon 1 VAR_018169 Q8WUJ3:p.Val1109Ile SP substitution exon 1 VAR_018170 Q8WUJ3:p.Pro1169Ala SP substitution exon 1 VAR_018172 Q7Z4F1:p.Arg48Trp SP substitution exon 1 VAR_018173 Q9NPA1:p.Asp44Gly SP substitution exon 1 VAR_018174 Q9NPA1:p.Ala53Thr SP substitution exon 1 VAR_018175 Q9NPA1:p.Leu75Val SP substitution exon 1 VAR_018176 Q9NPA1:p.Asn165Ser SP substitution exon 1 VAR_018177 Q9NPA1:p.Met230Thr SP substitution exon 1 VAR_018178 Q86W47:p.Val199Ile SP substitution exon 1 VAR_018180 P51608:p.Glu10Gln SP substitution exon 1 VAR_018181 P51608:p.Ser86Cys SP substitution exon 1 VAR_018182 P51608:p.Asp97Tyr SP substitution exon 1 VAR_018183 P51608:p.Pro101His SP substitution exon 1 VAR_018184 P51608:p.Pro101Leu SP substitution exon 1 VAR_018185 P51608:p.Pro101Thr SP substitution exon 1 VAR_018186 P51608:p.Arg106Gln SP substitution exon 1 VAR_018187 P51608:p.Arg111Gly SP substitution exon 1 VAR_018188 P51608:p.Gln128Pro SP substitution exon 1 VAR_018189 P51608:p.Arg133His SP substitution exon 1 VAR_018190 P51608:p.Lys135Glu SP substitution exon 1 VAR_018191 P51608:p.Asp156Gly SP substitution exon 1 VAR_018192 P51608:p.Arg167Trp SP substitution exon 1 VAR_018193 P51608:p.Ala181Val SP substitution exon 1 VAR_018194 P51608:p.Thr196Ser SP substitution exon 1 VAR_018195 P51608:p.Thr197Met SP substitution exon 1 VAR_018196 P51608:p.Thr203Met SP substitution exon 1 VAR_018197 P51608:p.Lys210Ile SP substitution exon 1 VAR_018198 P51608:p.Pro225Arg SP substitution exon 1 VAR_018199 P51608:p.Thr228Ser SP substitution exon 1 VAR_018200 P51608:p.Ser229Leu SP substitution exon 1 VAR_018201 P51608:p.Gly232Ala SP substitution exon 1 VAR_018202 P51608:p.Pro251Leu SP substitution exon 1 VAR_018203 P51608:p.Lys284Glu SP substitution exon 1 VAR_018204 P51608:p.Ala287Pro SP substitution exon 1 VAR_018205 P51608:p.Ser291Ala SP substitution exon 1 VAR_018206 P51608:p.Pro302Ala SP substitution exon 1 VAR_018207 P51608:p.Pro302His SP substitution exon 1 VAR_018208 P51608:p.Pro302Leu SP substitution exon 1 VAR_018209 P51608:p.Pro302Arg SP substitution exon 1 VAR_018210 P51608:p.Lys305Arg SP substitution exon 1 VAR_018211 P51608:p.Arg306His SP substitution exon 1 VAR_018212 P51608:p.Pro322Ala SP substitution exon 1 VAR_018213 P51608:p.Pro322Leu SP substitution exon 1 VAR_018214 P51608:p.Arg344Trp SP substitution exon 1 VAR_018215 P51608:p.Ser359Pro SP substitution exon 1 VAR_018216 P51608:p.Pro376Ser SP substitution exon 1 VAR_018218 P51608:p.Pro388Ser SP substitution exon 1 VAR_018219 P51608:p.Glu394Lys SP substitution exon 1 VAR_018220 P51608:p.Pro399Leu SP substitution exon 1 VAR_018221 P51608:p.Pro402Leu SP substitution exon 1 VAR_018222 P51608:p.Val412Ile SP substitution exon 1 VAR_018223 P51608:p.Ala439Thr SP substitution exon 1 VAR_018224 P51608:p.Ala444Thr SP substitution exon 1 VAR_018225 P51608:p.Arg453Gln SP substitution exon 1 VAR_018226 P51608:p.Pro480Ser SP substitution exon 1 VAR_018227 Q13496:p.Val49Phe SP substitution exon 1 VAR_018228 Q13496:p.Tyr68Asp SP substitution exon 1 VAR_018229 Q13496:p.Arg69Pro SP substitution exon 1 VAR_018230 Q13496:p.Arg69Ser SP substitution exon 1 VAR_018231 Q13496:p.Glu157Lys SP substitution exon 1 VAR_018232 Q13496:p.Asn180Lys SP substitution exon 1 VAR_018233 Q13496:p.Arg184Leu SP substitution exon 1 VAR_018234 Q13496:p.Thr186Ile SP substitution exon 1 VAR_018235 Q13496:p.Thr197Ile SP substitution exon 1 VAR_018236 Q13496:p.Pro199Ser SP substitution exon 1 VAR_018237 Q13496:p.Leu202Ser SP substitution exon 1 VAR_018238 Q13496:p.Pro226Thr SP substitution exon 1 VAR_018239 Q13496:p.Val227Met SP substitution exon 1 VAR_018240 Q13496:p.Leu228Pro SP substitution exon 1 VAR_018241 Q13496:p.Trp230Cys SP substitution exon 1 VAR_018242 Q13496:p.His232Arg SP substitution exon 1 VAR_018243 Q13496:p.Ala279Gly SP substitution exon 1 VAR_018244 Q13496:p.Trp346Cys SP substitution exon 1 VAR_018245 Q13496:p.Trp346Ser SP substitution exon 1 VAR_018246 Q13496:p.Val364Gly SP substitution exon 1 VAR_018247 Q13496:p.His374Asp SP substitution exon 1 VAR_018248 Q13496:p.Gly378Glu SP substitution exon 1 VAR_018249 Q13496:p.Ala389Asp SP substitution exon 1 VAR_018250 Q13496:p.Leu391Pro SP substitution exon 1 VAR_018251 Q13496:p.Gly402Arg SP substitution exon 1 VAR_018252 Q13496:p.Gly402Val SP substitution exon 1 VAR_018253 Q13496:p.Trp411Cys SP substitution exon 1 VAR_018254 Q13496:p.Cys444Tyr SP substitution exon 1 VAR_018255 Q13496:p.Leu470Pro SP substitution exon 1 VAR_018260 P23560:p.Thr2Ile SP substitution exon 1 VAR_018261 P56159:p.Leu371Arg SP substitution exon 1 VAR_018262 Q8N3F8:p.Ala519Ser SP substitution exon 1 VAR_018263 Q7RTP6:p.Met750Leu SP substitution exon 1 VAR_018264 Q9Y5B0:p.Thr340Met SP substitution exon 1 VAR_018267 Q8TF17:p.Ala468Ser SP substitution exon 1 VAR_018268 Q8TF17:p.Arg529Gln SP substitution exon 1 VAR_018269 Q8TF17:p.Glu657Lys SP substitution exon 1 VAR_018270 Q8TF17:p.Arg658Cys SP substitution exon 1 VAR_018271 Q9UPI3:p.Val16Ala SP substitution exon 1 VAR_018272 Q14154:p.Phe128Leu SP substitution exon 1 VAR_018273 Q14154:p.Ala247Thr SP substitution exon 1 VAR_018274 Q9Y250:p.Ser29Pro SP substitution exon 1 VAR_018275 Q9Y250:p.Lys119Glu SP substitution exon 1 VAR_018276 Q9Y250:p.Leu475Val SP substitution exon 1 VAR_018277 Q9BRK4:p.Arg299Trp SP substitution exon 1 VAR_018278 O75072:p.Cys250Gly SP substitution exon 1 VAR_018280 Q9H9S5:p.Ala114Gly SP substitution exon 1 VAR_018282 Q9H9S5:p.Arg143Ser SP substitution exon 1 VAR_018283 Q9H9S5:p.Pro217Thr SP substitution exon 1 VAR_018284 Q9H9S5:p.Ser221Arg SP substitution exon 1 VAR_018285 Q9H9S5:p.Leu276Ile SP substitution exon 1 VAR_018286 Q9H9S5:p.Tyr309Cys SP substitution exon 1 VAR_018287 Q9H9S5:p.Arg312Cys SP substitution exon 1 VAR_018288 Q9H9S5:p.Pro315Thr SP substitution exon 1 VAR_018289 Q9H9S5:p.Pro316Arg SP substitution exon 1 VAR_018290 Q9H9S5:p.Tyr328Ser SP substitution exon 1 VAR_018291 Q9H9S5:p.Arg339Leu SP substitution exon 1 VAR_018292 Q9H9S5:p.Arg339His SP substitution exon 1 VAR_018293 Q9H9S5:p.Asp401Asn SP substitution exon 1 VAR_018294 Q9H9S5:p.Pro448Leu SP substitution exon 1 VAR_018295 Q9H9S5:p.Tyr465Ser SP substitution exon 1 VAR_018296 Q8NFJ5:p.Ser118Gly SP substitution exon 1 VAR_018297 Q9NZD1:p.Ala18Asp SP substitution exon 1 VAR_018298 Q9ULV8:p.His405Tyr SP substitution exon 1 VAR_018300 P51843:p.Tyr380Asp SP substitution exon 1 VAR_018301 P51843:p.Leu381His SP substitution exon 1 VAR_018302 P51843:p.Ile439Ser SP substitution exon 1 VAR_018303 P51843:p.Leu295Pro SP substitution exon 1 VAR_018304 P51843:p.Ala300Pro SP substitution exon 1 VAR_018305 P51843:p.Arg425Thr SP substitution exon 1 VAR_018306 P51843:p.Leu466Arg SP substitution exon 1 VAR_018307 O60880:p.Arg55Leu SP substitution exon 1 VAR_018308 P35579:p.Ala95Thr SP substitution exon 1 VAR_018309 P35579:p.Ser96Leu SP substitution exon 1 VAR_018310 P35579:p.Lys373Asn SP substitution exon 1 VAR_018311 P35579:p.Arg702His SP substitution exon 1 VAR_018312 P35579:p.Ser1114Pro SP substitution exon 1 VAR_018313 P35579:p.Arg1165Leu SP substitution exon 1 VAR_018315 P35579:p.Arg1400Trp SP substitution exon 1 VAR_018316 P35579:p.Asp1424Asn SP substitution exon 1 VAR_018317 P35579:p.Asp1424Tyr SP substitution exon 1 VAR_018318 P35579:p.Ile1626Val SP substitution exon 1 VAR_018321 P25445:p.Asn118Ser SP substitution exon 1 VAR_018322 P25445:p.Cys178Arg SP substitution exon 1 VAR_018323 P25445:p.Asn255Asp SP substitution exon 1 VAR_018324 Q13253:p.Pro35Ser SP substitution exon 1 VAR_018325 Q13253:p.Cys184Tyr SP substitution exon 1 VAR_018326 Q13253:p.Arg204Leu SP substitution exon 1 VAR_018328 Q9NZR2:p.Arg3157Cys SP substitution exon 1 VAR_018329 P16422:p.Met115Thr SP substitution exon 1 VAR_018330 P11509:p.Gly5Arg SP substitution exon 1 VAR_018331 P11509:p.Ser29Asn SP substitution exon 1 VAR_018332 P11509:p.Lys194Glu SP substitution exon 1 VAR_018333 P11509:p.Arg203Ser SP substitution exon 1 VAR_018334 Q16696:p.Arg25Gln SP substitution exon 1 VAR_018335 Q16696:p.Arg101Gln SP substitution exon 1 VAR_018337 Q16696:p.Asp158Glu SP substitution exon 1 VAR_018338 Q16696:p.Phe453Tyr SP substitution exon 1 VAR_018339 Q16696:p.Arg494Cys SP substitution exon 1 VAR_018340 O75469:p.Arg98Cys SP substitution exon 1 VAR_018341 O75469:p.Arg148Gln SP substitution exon 1 VAR_018344 Q14994:p.Val133Gly SP substitution exon 1 VAR_018345 P31513:p.Asp198Glu SP substitution exon 1 VAR_018346 P31513:p.Arg205Cys SP substitution exon 1 VAR_018347 P07099:p.Glu44Gln SP substitution exon 1 VAR_018348 P54855:p.Lys523Thr SP substitution exon 1 VAR_018349 Q9UNQ0:p.Phe431Leu SP substitution exon 1 VAR_018350 Q9UNQ0:p.Phe489Leu SP substitution exon 1 VAR_018351 P08183:p.Glu108Lys SP substitution exon 1 VAR_018352 P08183:p.Met986Val SP substitution exon 1 VAR_018353 P08183:p.Val1251Ile SP substitution exon 1 VAR_018354 Q9HAW8:p.Met59Ile SP substitution exon 1 VAR_018355 Q9HAW8:p.Thr202Ile SP substitution exon 1 VAR_018356 Q16696:p.Val323Leu SP substitution exon 1 VAR_018357 P13584:p.Arg173Trp SP substitution exon 1 VAR_018358 P13584:p.Ser322Gly SP substitution exon 1 VAR_018359 P13584:p.Met331Ile SP substitution exon 1 VAR_018360 P13584:p.Arg340Cys SP substitution exon 1 VAR_018361 P13584:p.Val345Ile SP substitution exon 1 VAR_018369 P04217:p.His52Arg SP substitution exon 1 VAR_018370 P04217:p.His395Arg SP substitution exon 1 VAR_018371 P10144:p.Arg55Gln SP substitution exon 1 VAR_018372 P19440:p.Val272Ala SP substitution exon 1 VAR_018373 P19440:p.Lys52Glu SP substitution exon 1 VAR_018374 P19440:p.Ala177Val SP substitution exon 1 VAR_018375 P11509:p.Glu419Asp SP substitution exon 1 VAR_018376 P22680:p.Asn233Ser SP substitution exon 1 VAR_018377 P22680:p.Asp347Asn SP substitution exon 1 VAR_018378 P24557:p.Val124Ile SP substitution exon 1 VAR_018379 P24557:p.Glu388Lys SP substitution exon 1 VAR_018382 Q9H5J0:p.Ile574Met SP substitution exon 1 VAR_018383 Q9P1Z0:p.Met550Ile SP substitution exon 1 VAR_018384 Q96DT7:p.Pro50Thr SP substitution exon 1 VAR_018385 Q96DT7:p.Met174Ile SP substitution exon 1 VAR_018386 O95237:p.Ser175Arg SP substitution exon 1 VAR_018387 O60806:p.Ser128Phe SP substitution exon 1 VAR_018388 P22607:p.Glu322Lys SP substitution exon 1 VAR_018389 P22607:p.Asn540Ser SP substitution exon 1 VAR_018390 P22607:p.Lys650Gln SP substitution exon 1 VAR_018391 P28360:p.Glu78Val SP substitution exon 1 VAR_018392 P28360:p.Gly91Asp SP substitution exon 1 VAR_018393 P28360:p.Val114Gly SP substitution exon 1 VAR_018394 P28360:p.Gly116Glu SP substitution exon 1 VAR_018395 P28360:p.Arg151Ser SP substitution exon 1 VAR_018396 O00748:p.Arg34Trp SP substitution exon 1 VAR_018397 O00748:p.Arg206His SP substitution exon 1 VAR_018399 O60602:p.Asn592Ser SP substitution exon 1 VAR_018400 O60602:p.Phe616Leu SP substitution exon 1 VAR_018401 P17213:p.Ala16Val SP substitution exon 1 VAR_018402 P17213:p.Ala196Val SP substitution exon 1 VAR_018403 P17213:p.Glu216Lys SP substitution exon 1 VAR_018404 O00175:p.Ile29Leu SP substitution exon 1 VAR_018405 P60022:p.Val38Ile SP substitution exon 1 VAR_018406 P11511:p.Arg264Cys SP substitution exon 1 VAR_018407 P35916:p.Thr494Ala SP substitution exon 1 VAR_018408 P35916:p.Pro641Ser SP substitution exon 1 VAR_018409 P35916:p.Gly857Arg SP substitution exon 1 VAR_018410 P35916:p.His890Gln SP substitution exon 1 VAR_018411 P35916:p.Pro954Ser SP substitution exon 1 VAR_018412 P35916:p.His1035Arg SP substitution exon 1 VAR_018413 P35916:p.Arg1041Pro SP substitution exon 1 VAR_018414 P35916:p.Leu1044Pro SP substitution exon 1 VAR_018415 P35916:p.Pro1114Leu SP substitution exon 1 VAR_018416 P35916:p.Pro1137Ser SP substitution exon 1 VAR_018417 P35916:p.Arg1146His SP substitution exon 1 VAR_018418 Q99958:p.Ser125Leu SP substitution exon 1 VAR_018419 P00387:p.Ser66Pro SP substitution exon 1 VAR_018420 Q9UP65:p.Ala38Pro SP substitution exon 1 VAR_018421 Q9UP65:p.Ile143Val SP substitution exon 1 VAR_018422 Q9UP65:p.Ser203Pro SP substitution exon 1 VAR_018423 Q9UP65:p.Arg430Cys SP substitution exon 1 VAR_018424 P47712:p.Arg651Lys SP substitution exon 1 VAR_018425 Q9H0C1:p.Phe316Leu SP substitution exon 1 VAR_018426 P10912:p.Cys56Ser SP substitution exon 1 VAR_018427 P10912:p.Ser58Leu SP substitution exon 1 VAR_018428 P10912:p.Trp68Arg SP substitution exon 1 VAR_018429 P10912:p.Pro149Gln SP substitution exon 1 VAR_018430 P10912:p.Val162Ile SP substitution exon 1 VAR_018431 P10912:p.Ile171Thr SP substitution exon 1 VAR_018432 P10912:p.Gln172Pro SP substitution exon 1 VAR_018433 P10912:p.Val173Gly SP substitution exon 1 VAR_018434 P10912:p.Tyr226Cys SP substitution exon 1 VAR_018435 P10912:p.Ser244Ile SP substitution exon 1 VAR_018436 P10912:p.Asp262Asn SP substitution exon 1 VAR_018437 P39019:p.Arg56Gln SP substitution exon 1 VAR_018438 P39019:p.Val15Phe SP substitution exon 1 VAR_018439 P39019:p.Leu18Pro SP substitution exon 1 VAR_018440 P39019:p.Pro47Leu SP substitution exon 1 VAR_018441 P39019:p.Trp52Arg SP substitution exon 1 VAR_018442 P39019:p.Thr55Met SP substitution exon 1 VAR_018443 P39019:p.Ala61Glu SP substitution exon 1 VAR_018444 P39019:p.Arg62Gln SP substitution exon 1 VAR_018445 P39019:p.Arg101His SP substitution exon 1 VAR_018446 P39019:p.Gly120Arg SP substitution exon 1 VAR_018447 P39019:p.Leu131Pro SP substitution exon 1 VAR_018448 Q7Z434:p.Ser409Phe SP substitution exon 1 VAR_018449 Q9NS73:p.Leu7His SP substitution exon 1 VAR_018450 Q9UBK2:p.Gly482Ser SP substitution exon 1 VAR_018451 Q9UBK2:p.Thr612Met SP substitution exon 1 VAR_018454 Q7Z2W4:p.Arg485Lys SP substitution exon 1 VAR_018455 Q7Z2W4:p.His565Gln SP substitution exon 1 VAR_018456 Q7Z2W4:p.Thr851Ile SP substitution exon 1 VAR_018457 Q8IXZ2:p.Ile6Met SP substitution exon 1 VAR_018458 Q8IXZ2:p.Phe149Tyr SP substitution exon 1 VAR_018459 Q8IXZ2:p.Glu151Asp SP substitution exon 1 VAR_018460 Q8IXZ2:p.Ser399Gly SP substitution exon 1 VAR_018461 Q8IXZ2:p.Ser452Gly SP substitution exon 1 VAR_018462 Q15542:p.Ser130Ala SP substitution exon 1 VAR_018464 P01270:p.Ser23Pro SP substitution exon 1 VAR_018465 O75197:p.Thr173Met SP substitution exon 1 VAR_018468 Q14114:p.Asp46Glu SP substitution exon 1 VAR_018469 Q14114:p.Arg952Gln SP substitution exon 1 VAR_018471 P19099:p.Thr185Ile SP substitution exon 1 VAR_018472 P19099:p.Leu461Pro SP substitution exon 1 VAR_018473 P19099:p.Thr498Ala SP substitution exon 1 VAR_018474 Q15399:p.His118Tyr SP substitution exon 1 VAR_018475 Q92561:p.Arg21Ser SP substitution exon 1 VAR_018476 P14598:p.Lys258Glu SP substitution exon 1 VAR_018477 P19878:p.Lys181Arg SP substitution exon 1 VAR_018478 P19878:p.Arg328Lys SP substitution exon 1 VAR_018479 P14598:p.Gly99Ser SP substitution exon 1 VAR_018480 O94880:p.Lys115Arg SP substitution exon 1 VAR_018481 O94955:p.Pro21Arg SP substitution exon 1 VAR_018482 O94955:p.Asn262Asp SP substitution exon 1 VAR_018483 O60706:p.Ala1513Thr SP substitution exon 1 VAR_018490 Q99973:p.Ser116Pro SP substitution exon 1 VAR_018491 Q99973:p.Asn307Lys SP substitution exon 1 VAR_018492 Q99973:p.Arg1055Cys SP substitution exon 1 VAR_018493 Q99973:p.Ser1195Pro SP substitution exon 1 VAR_018494 Q99973:p.Ser1447Thr SP substitution exon 1 VAR_018495 Q99973:p.Cys1468Tyr SP substitution exon 1 VAR_018499 Q86US8:p.Arg291Pro SP substitution exon 1 VAR_018500 Q86US8:p.Lys294Gln SP substitution exon 1 VAR_018501 Q86US8:p.Asn341Thr SP substitution exon 1 VAR_018502 Q86US8:p.Ala972Thr SP substitution exon 1 VAR_018503 Q86US8:p.His1233Arg SP substitution exon 1 VAR_018504 Q9UJY1:p.Lys141Glu SP substitution exon 1 VAR_018505 Q9UJY1:p.Lys141Asn SP substitution exon 1 VAR_018506 P04792:p.Arg127Trp SP substitution exon 1 VAR_018507 P04792:p.Ser135Phe SP substitution exon 1 VAR_018508 P04792:p.Arg136Trp SP substitution exon 1 VAR_018509 P04792:p.Thr151Ile SP substitution exon 1 VAR_018510 P04792:p.Pro182Leu SP substitution exon 1 VAR_018511 P50897:p.Gly108Arg SP substitution exon 1 VAR_018512 P15056:p.Gly466Val SP substitution exon 1 VAR_018513 P15056:p.Leu597Arg SP substitution exon 1 VAR_018514 P22413:p.Leu579Phe SP substitution exon 1 VAR_018515 P22413:p.Arg774Cys SP substitution exon 1 VAR_018516 O14638:p.Val620Met SP substitution exon 1 VAR_018517 P21912:p.Leu87Ser SP substitution exon 1 VAR_018518 P21912:p.Pro131Arg SP substitution exon 1 VAR_018520 P08F94:p.Ala17Val SP substitution exon 1 VAR_018521 P08F94:p.Ile25Val SP substitution exon 1 VAR_018522 P08F94:p.Gly223Ser SP substitution exon 1 VAR_018523 P08F94:p.Ile307Thr SP substitution exon 1 VAR_018524 P08F94:p.Gly326Val SP substitution exon 1 VAR_018526 P08F94:p.Glu457Asp SP substitution exon 1 VAR_018527 P08F94:p.Ile473Ser SP substitution exon 1 VAR_018528 P08F94:p.Tyr486His SP substitution exon 1 VAR_018529 P08F94:p.Arg488Pro SP substitution exon 1 VAR_018530 P08F94:p.Arg496Pro SP substitution exon 1 VAR_018531 P08F94:p.Thr579Met SP substitution exon 1 VAR_018532 P08F94:p.Trp656Cys SP substitution exon 1 VAR_018533 P08F94:p.Asp703Asn SP substitution exon 1 VAR_018534 P08F94:p.Val732Phe SP substitution exon 1 VAR_018535 P08F94:p.Pro739Leu SP substitution exon 1 VAR_018536 P08F94:p.Ile757Leu SP substitution exon 1 VAR_018537 P08F94:p.Pro805Leu SP substitution exon 1 VAR_018538 P08F94:p.Asn830Ser SP substitution exon 1 VAR_018539 P08F94:p.Thr899Pro SP substitution exon 1 VAR_018540 P08F94:p.Met997Lys SP substitution exon 1 VAR_018541 P08F94:p.Ala1030Glu SP substitution exon 1 VAR_018542 P08F94:p.Gly1123Ser SP substitution exon 1 VAR_018543 P08F94:p.Tyr1136Cys SP substitution exon 1 VAR_018544 P08F94:p.Ala1150Pro SP substitution exon 1 VAR_018545 P08F94:p.Ser1283Leu SP substitution exon 1 VAR_018546 P08F94:p.Pro1389Thr SP substitution exon 1 VAR_018547 P08F94:p.Cys1472Tyr SP substitution exon 1 VAR_018548 P08F94:p.Pro1486Leu SP substitution exon 1 VAR_018549 P08F94:p.Ser1584Ile SP substitution exon 1 VAR_018550 P08F94:p.Leu1709Phe SP substitution exon 1 VAR_018551 P08F94:p.Thr1781Ile SP substitution exon 1 VAR_018552 P08F94:p.Val1789Leu SP substitution exon 1 VAR_018553 P08F94:p.Ser1833Leu SP substitution exon 1 VAR_018554 P08F94:p.Tyr1838Cys SP substitution exon 1 VAR_018555 P08F94:p.Ser1867Asn SP substitution exon 1 VAR_018556 P08F94:p.Leu1870Val SP substitution exon 1 VAR_018557 P08F94:p.Asp1942Gly SP substitution exon 1 VAR_018558 P08F94:p.Gly1971Asp SP substitution exon 1 VAR_018559 P08F94:p.Ile1998Thr SP substitution exon 1 VAR_018560 P08F94:p.Val2032Leu SP substitution exon 1 VAR_018561 P08F94:p.Leu2134Pro SP substitution exon 1 VAR_018562 P08F94:p.Ile2303Phe SP substitution exon 1 VAR_018563 P08F94:p.Cys2422Gly SP substitution exon 1 VAR_018564 P08F94:p.Ala2615Gly SP substitution exon 1 VAR_018565 P08F94:p.Thr2641Ala SP substitution exon 1 VAR_018566 P08F94:p.Cys2688Phe SP substitution exon 1 VAR_018567 P08F94:p.Asp2761Tyr SP substitution exon 1 VAR_018568 P08F94:p.Leu2772Pro SP substitution exon 1 VAR_018569 P08F94:p.Ser2861Gly SP substitution exon 1 VAR_018570 P08F94:p.Tyr2863Cys SP substitution exon 1 VAR_018571 P08F94:p.Thr2869Lys SP substitution exon 1 VAR_018572 P08F94:p.Asp2962Gly SP substitution exon 1 VAR_018573 P08F94:p.Ser2983Leu SP substitution exon 1 VAR_018574 P08F94:p.Val3036Gly SP substitution exon 1 VAR_018575 P08F94:p.Ala3072Val SP substitution exon 1 VAR_018576 P08F94:p.Ile3081Val SP substitution exon 1 VAR_018577 P08F94:p.Asp3088Asn SP substitution exon 1 VAR_018578 P08F94:p.Arg3107Pro SP substitution exon 1 VAR_018579 P08F94:p.His3124Tyr SP substitution exon 1 VAR_018580 P08F94:p.Arg3143Ile SP substitution exon 1 VAR_018581 P08F94:p.Ile3167Leu SP substitution exon 1 VAR_018582 P08F94:p.Asn3175Asp SP substitution exon 1 VAR_018583 P08F94:p.Asn3175Ser SP substitution exon 1 VAR_018584 P08F94:p.Ile3177Thr SP substitution exon 1 VAR_018585 P08F94:p.Ser3289Ile SP substitution exon 1 VAR_018586 P08F94:p.Asp3293Val SP substitution exon 1 VAR_018587 P08F94:p.Cys3346Arg SP substitution exon 1 VAR_018588 P08F94:p.Val3440Asp SP substitution exon 1 VAR_018589 P08F94:p.Ile3468Val SP substitution exon 1 VAR_018590 P08F94:p.Val3471Gly SP substitution exon 1 VAR_018591 P08F94:p.Arg3482Cys SP substitution exon 1 VAR_018592 P08F94:p.Glu3502Val SP substitution exon 1 VAR_018593 P08F94:p.Ser3505Arg SP substitution exon 1 VAR_018594 P08F94:p.Glu3529Gln SP substitution exon 1 VAR_018595 P08F94:p.Glu3551Lys SP substitution exon 1 VAR_018596 P08F94:p.Cys3622Tyr SP substitution exon 1 VAR_018597 P08F94:p.Pro3783Ser SP substitution exon 1 VAR_018598 P08F94:p.Arg3842Leu SP substitution exon 1 VAR_018599 P08F94:p.Gln3899Arg SP substitution exon 1 VAR_018600 P49815:p.Ala862Val SP substitution exon 1 VAR_018601 P49815:p.Ala1429Ser SP substitution exon 1 VAR_018602 P49815:p.Pro1450Arg SP substitution exon 1 VAR_018603 P49815:p.Ser1653Phe SP substitution exon 1 VAR_018604 P22557:p.Asp159Tyr SP substitution exon 1 VAR_018605 P22557:p.Arg560His SP substitution exon 1 VAR_018606 Q8IWA4:p.Pro523Arg SP substitution exon 1 VAR_018607 O95140:p.Val69Phe SP substitution exon 1 VAR_018608 O95140:p.Leu76Pro SP substitution exon 1 VAR_018609 O95140:p.Arg94Gln SP substitution exon 1 VAR_018610 O95140:p.Pro251Ala SP substitution exon 1 VAR_018611 O95140:p.Arg280His SP substitution exon 1 VAR_018612 O95140:p.Trp740Ser SP substitution exon 1 VAR_018613 P15056:p.Arg462Ile SP substitution exon 1 VAR_018614 P15056:p.Ile463Ser SP substitution exon 1 VAR_018615 P15056:p.Gly464Glu SP substitution exon 1 VAR_018616 P15056:p.Gly464Val SP substitution exon 1 VAR_018617 P15056:p.Gly466Ala SP substitution exon 1 VAR_018618 P15056:p.Gly466Glu SP substitution exon 1 VAR_018619 O14832:p.Asn83Tyr SP substitution exon 1 VAR_018620 P15056:p.Gly469Ala SP substitution exon 1 VAR_018621 P15056:p.Gly469Glu SP substitution exon 1 VAR_018622 P15056:p.Gly469Arg SP substitution exon 1 VAR_018623 P15056:p.Glu586Lys SP substitution exon 1 VAR_018624 P15056:p.Asp594Gly SP substitution exon 1 VAR_018625 P15056:p.Phe595Leu SP substitution exon 1 VAR_018626 P15056:p.Gly596Arg SP substitution exon 1 VAR_018627 P15056:p.Leu597Val SP substitution exon 1 VAR_018628 P15056:p.Val600Asp SP substitution exon 1 VAR_018629 P15056:p.Val600Glu SP substitution exon 1 VAR_018630 P15056:p.Lys601Glu SP substitution exon 1 VAR_018631 O14832:p.His175Arg SP substitution exon 1 VAR_018633 O76036:p.Lys82Gln SP substitution exon 1 VAR_018634 O95944:p.Met75Val SP substitution exon 1 VAR_018635 O95944:p.Ser139Pro SP substitution exon 1 VAR_018636 O95944:p.Ile218Lys SP substitution exon 1 VAR_018637 O95944:p.Met223Val SP substitution exon 1 VAR_018638 Q9UQF0:p.Val129Ala SP substitution exon 1 VAR_018639 Q9UQF0:p.Arg138Gln SP substitution exon 1 VAR_018640 Q9UQF0:p.Ser307Asn SP substitution exon 1 VAR_018641 Q9UQF0:p.Ser477Phe SP substitution exon 1 VAR_018647 Q7Z412:p.Leu45Pro SP substitution exon 1 VAR_018648 Q7Z412:p.Gly89Arg SP substitution exon 1 VAR_018649 Q7Z412:p.Arg98Trp SP substitution exon 1 VAR_018650 P11168:p.Val197Ile SP substitution exon 1 VAR_018651 P11168:p.Leu389Pro SP substitution exon 1 VAR_018654 P50443:p.Gln454Pro SP substitution exon 1 VAR_018655 P50443:p.Cys653Ser SP substitution exon 1 VAR_018656 P42704:p.Ala354Val SP substitution exon 1 VAR_018657 P00747:p.Lys38Glu SP substitution exon 1 VAR_018658 P00747:p.Leu147Pro SP substitution exon 1 VAR_018659 P00747:p.Arg235His SP substitution exon 1 VAR_018660 P00747:p.Arg532His SP substitution exon 1 VAR_018661 P51587:p.Thr2722Arg SP substitution exon 1 VAR_018662 Q9BZD2:p.Arg18Gly SP substitution exon 1 VAR_018663 Q9BZD2:p.Ser158Phe SP substitution exon 1 VAR_018664 Q9BZD2:p.Val239Ile SP substitution exon 1 VAR_018671 P08709:p.Thr367Ser SP substitution exon 1 VAR_018672 P20702:p.Trp48Arg SP substitution exon 1 VAR_018673 P53708:p.Val216Leu SP substitution exon 1 VAR_018674 P53708:p.Ser577Phe SP substitution exon 1 VAR_018675 P53708:p.Gln581Pro SP substitution exon 1 VAR_018676 P53708:p.Arg748His SP substitution exon 1 VAR_018677 P53708:p.Ile993Val SP substitution exon 1 VAR_018678 P53708:p.Val994Ala SP substitution exon 1 VAR_018679 P40763:p.Met143Ile SP substitution exon 1 VAR_018680 P06732:p.Glu83Gly SP substitution exon 1 VAR_018681 P06732:p.Leu127Val SP substitution exon 1 VAR_018682 P06732:p.Gly243Ala SP substitution exon 1 VAR_018683 P40763:p.Gln32Lys SP substitution exon 1 VAR_018684 Q9NRA2:p.Arg39Cys SP substitution exon 1 VAR_018685 Q9NRA2:p.Lys136Glu SP substitution exon 1 VAR_018686 Q9NRA2:p.His183Arg SP substitution exon 1 VAR_018688 Q9NRA2:p.Pro334Arg SP substitution exon 1 VAR_018689 Q9NRA2:p.Gly371Val SP substitution exon 1 VAR_018690 Q16610:p.Thr130Met SP substitution exon 1 VAR_018691 Q16610:p.Phe167Ile SP substitution exon 1 VAR_018718 P41250:p.Glu125Gly SP substitution exon 1 VAR_018719 P41250:p.Leu183Pro SP substitution exon 1 VAR_018720 P41250:p.Gly294Arg SP substitution exon 1 VAR_018721 P41250:p.Gly580Arg SP substitution exon 1 VAR_018722 P51149:p.Leu129Phe SP substitution exon 1 VAR_018723 P51149:p.Val162Met SP substitution exon 1 VAR_018724 Q9BV36:p.Arg35Trp SP substitution exon 1 VAR_018725 Q13049:p.Asp487Asn SP substitution exon 1 VAR_018727 P02545:p.Arg527His SP substitution exon 1 VAR_018728 P51692:p.Ala630Pro SP substitution exon 1 VAR_018729 O00206:p.Gln188Arg SP substitution exon 1 VAR_018730 O00206:p.Cys246Ser SP substitution exon 1 VAR_018731 O00206:p.Asn329Ser SP substitution exon 1 VAR_018732 O00206:p.Phe443Leu SP substitution exon 1 VAR_018733 O00206:p.Glu474Lys SP substitution exon 1 VAR_018734 O00206:p.Gln510His SP substitution exon 1 VAR_018738 Q7Z3D6:p.Arg10Cys SP substitution exon 1 VAR_018739 Q7Z3D6:p.Asp502Asn SP substitution exon 1 VAR_018740 P02042:p.Thr5Ile SP substitution exon 1 VAR_018741 P02042:p.Thr5Ser SP substitution exon 1 VAR_018742 P08588:p.Arg389Leu SP substitution exon 1 VAR_018743 P18054:p.Gln261Arg SP substitution exon 1 VAR_018744 P18054:p.Asn322Ser SP substitution exon 1 VAR_018745 P18054:p.Arg430His SP substitution exon 1 VAR_018746 P16050:p.Asp90His SP substitution exon 1 VAR_018747 P16050:p.Asn103Lys SP substitution exon 1 VAR_018748 P16050:p.Arg205Gln SP substitution exon 1 VAR_018749 P40937:p.Ala13Thr SP substitution exon 1 VAR_018750 P40938:p.Leu16Val SP substitution exon 1 VAR_018751 P25942:p.Ser124Leu SP substitution exon 1 VAR_018752 P25942:p.Pro227Ala SP substitution exon 1 VAR_018753 P28908:p.Cys273Tyr SP substitution exon 1 VAR_018754 P28908:p.Ser402Gly SP substitution exon 1 VAR_018755 Q02223:p.Ala54Val SP substitution exon 1 VAR_018756 Q02223:p.Ile65Val SP substitution exon 1 VAR_018757 Q02223:p.Phe75Val SP substitution exon 1 VAR_018758 Q02223:p.Asn81Ser SP substitution exon 1 VAR_018759 Q02223:p.Cys165Ser SP substitution exon 1 VAR_018760 P47712:p.Val224Ile SP substitution exon 1 VAR_018761 Q9UP65:p.Glu21Lys SP substitution exon 1 VAR_018762 Q9UP65:p.Ala127Val SP substitution exon 1 VAR_018763 Q9UP65:p.Val142Phe SP substitution exon 1 VAR_018764 Q9UP65:p.Arg148Gly SP substitution exon 1 VAR_018765 Q9UP65:p.Pro151Leu SP substitution exon 1 VAR_018766 Q9UP65:p.Thr226Ser SP substitution exon 1 VAR_018767 Q9UP65:p.Thr360Pro SP substitution exon 1 VAR_018768 Q9UP65:p.Asp411Asn SP substitution exon 1 VAR_018771 P17661:p.Leu385Pro SP substitution exon 1 VAR_018772 P17661:p.Gln389Pro SP substitution exon 1 VAR_018773 P17661:p.Ile451Met SP substitution exon 1 VAR_018774 Q16678:p.Ala443Gly SP substitution exon 1 VAR_018776 Q7Z333:p.Thr3Ile SP substitution exon 1 VAR_018777 Q7Z333:p.Trp305Cys SP substitution exon 1 VAR_018778 Q7Z333:p.Arg332Trp SP substitution exon 1 VAR_018779 Q7Z333:p.Leu389Ser SP substitution exon 1 VAR_018780 Q7Z333:p.Pro413Leu SP substitution exon 1 VAR_018781 Q7Z333:p.Ala660Gly SP substitution exon 1 VAR_018782 Q7Z333:p.Pro1061Leu SP substitution exon 1 VAR_018783 Q7Z333:p.Phe1152Cys SP substitution exon 1 VAR_018784 Q7Z333:p.Asp1192Glu SP substitution exon 1 VAR_018785 Q7Z333:p.Gly1252Arg SP substitution exon 1 VAR_018786 Q7Z333:p.Pro1331Leu SP substitution exon 1 VAR_018787 Q7Z333:p.Ile1386Val SP substitution exon 1 VAR_018788 Q7Z333:p.Phe1756Ser SP substitution exon 1 VAR_018789 Q7Z333:p.Thr1855Ala SP substitution exon 1 VAR_018790 Q7Z333:p.Arg2136His SP substitution exon 1 VAR_018791 Q7Z333:p.Pro2213Leu SP substitution exon 1 VAR_018792 Q7Z333:p.Ile2587Val SP substitution exon 1 VAR_018793 Q7Z333:p.Ser2612Gly SP substitution exon 1 VAR_018794 Q7Z2E3:p.Lys211Gln SP substitution exon 1 VAR_018795 Q7Z2E3:p.Ala212Val SP substitution exon 1 VAR_018796 Q7Z2E3:p.Arg213His SP substitution exon 1 VAR_018797 Q7Z2E3:p.His215Arg SP substitution exon 1 VAR_018798 Q7Z2E3:p.Pro220Leu SP substitution exon 1 VAR_018802 P18858:p.Ala24Val SP substitution exon 1 VAR_018803 P18858:p.Arg62Trp SP substitution exon 1 VAR_018804 P18858:p.Val349Met SP substitution exon 1 VAR_018805 P18858:p.Val369Ile SP substitution exon 1 VAR_018808 P49917:p.Pro231Ser SP substitution exon 1 VAR_018809 P22079:p.Thr105Ile SP substitution exon 1 VAR_018810 P22079:p.Ala244Thr SP substitution exon 1 VAR_018816 P06744:p.Ile208Thr SP substitution exon 1 VAR_018817 P20800:p.Pro168Leu SP substitution exon 1 VAR_018818 P06307:p.Gly32Glu SP substitution exon 1 VAR_018819 P20248:p.Ile163Val SP substitution exon 1 VAR_018820 P30279:p.Gly268Arg SP substitution exon 1 VAR_018821 Q05329:p.Gly12Arg SP substitution exon 1 VAR_018822 Q05329:p.Lys124Asn SP substitution exon 1 VAR_018823 Q05329:p.Lys286Arg SP substitution exon 1 VAR_018824 Q05329:p.Arg375Gln SP substitution exon 1 VAR_018825 P61803:p.Ala83Thr SP substitution exon 1 VAR_018826 Q93038:p.Arg23Gln SP substitution exon 1 VAR_018827 Q93038:p.Asp159Gly SP substitution exon 1 VAR_018828 Q93038:p.Pro254Arg SP substitution exon 1 VAR_018829 Q16611:p.Ala28Val SP substitution exon 1 VAR_018830 Q16611:p.Ser69Arg SP substitution exon 1 VAR_018831 O15457:p.Ala60Val SP substitution exon 1 VAR_018832 O15457:p.Ala90Thr SP substitution exon 1 VAR_018833 O15457:p.Ala97Thr SP substitution exon 1 VAR_018834 O15457:p.Glu162Lys SP substitution exon 1 VAR_018835 O15457:p.Tyr589Cys SP substitution exon 1 VAR_018836 O15457:p.Ser914Asn SP substitution exon 1 VAR_018838 P15289:p.Phe356Val SP substitution exon 1 VAR_018840 P04049:p.Pro308Leu SP substitution exon 1 VAR_018841 O15528:p.Val166Leu SP substitution exon 1 VAR_018842 O75324:p.Val17Ile SP substitution exon 1 VAR_018843 O75324:p.Gly88Ser SP substitution exon 1 VAR_018844 O43681:p.Asn332Ser SP substitution exon 1 VAR_018845 P55957:p.Ser10Gly SP substitution exon 1 VAR_018846 P23434:p.Ser21Leu SP substitution exon 1 VAR_018847 P23434:p.Asn73Ser SP substitution exon 1 VAR_018848 P30613:p.Val506Ile SP substitution exon 1 VAR_018849 Q14397:p.Glu77Gly SP substitution exon 1 VAR_018850 Q14397:p.Gly256Ser SP substitution exon 1 VAR_018851 Q14397:p.Arg540Gln SP substitution exon 1 VAR_018852 P37059:p.Ala121Thr SP substitution exon 1 VAR_018855 P08069:p.Val388Met SP substitution exon 1 VAR_018856 P08069:p.Arg605His SP substitution exon 1 VAR_018857 P42898:p.Gly422Arg SP substitution exon 1 VAR_018858 P42898:p.Arg519Cys SP substitution exon 1 VAR_018859 P42898:p.Arg594Gln SP substitution exon 1 VAR_018860 P42898:p.Thr653Met SP substitution exon 1 VAR_018861 Q99259:p.Ile228Leu SP substitution exon 1 VAR_018862 P11712:p.Leu19Ile SP substitution exon 1 VAR_018863 P11712:p.Arg150His SP substitution exon 1 VAR_018864 P11712:p.His251Arg SP substitution exon 1 VAR_018865 P11712:p.Glu272Gly SP substitution exon 1 VAR_018866 P11712:p.Arg335Trp SP substitution exon 1 VAR_018867 P11712:p.Pro489Ser SP substitution exon 1 VAR_018868 P30536:p.Glu169Gln SP substitution exon 1 VAR_018869 Q16678:p.Ser206Asn SP substitution exon 1 VAR_018870 Q16678:p.Arg266Leu SP substitution exon 1 VAR_018871 P18065:p.Ala137Asp SP substitution exon 1 VAR_018872 Q9UIF7:p.Val22Met SP substitution exon 1 VAR_018873 Q9UIF7:p.Tyr176Cys SP substitution exon 1 VAR_018874 Q9UIF7:p.Gln335His SP substitution exon 1 VAR_018875 Q9UIF7:p.Gly393Asp SP substitution exon 1 VAR_018879 P55058:p.Ser124Tyr SP substitution exon 1 VAR_018880 P55058:p.Met425Ile SP substitution exon 1 VAR_018882 P10767:p.Val36Ala SP substitution exon 1 VAR_018883 P10767:p.Ala63Val SP substitution exon 1 VAR_018884 P10767:p.Asp174Val SP substitution exon 1 VAR_018885 P10767:p.Arg191Trp SP substitution exon 1 VAR_018886 Q92914:p.Arg163Gly SP substitution exon 1 VAR_018887 Q9GZV9:p.Pro195Ser SP substitution exon 1 VAR_018888 O95257:p.Gly112Ser SP substitution exon 1 VAR_018889 P04406:p.Ala22Gly SP substitution exon 1 VAR_018890 O15527:p.Ala288Val SP substitution exon 1 VAR_018891 O15527:p.Asp322Asn SP substitution exon 1 VAR_018892 Q13569:p.Gly199Ser SP substitution exon 1 VAR_018894 Q01831:p.Leu16Val SP substitution exon 1 VAR_018895 Q01831:p.Leu48Phe SP substitution exon 1 VAR_018896 Q01831:p.Lys86Arg SP substitution exon 1 VAR_018897 Q01831:p.Arg314Gln SP substitution exon 1 VAR_018898 Q01831:p.Arg492His SP substitution exon 1 VAR_018899 Q01831:p.Ala499Val SP substitution exon 1 VAR_018900 Q01831:p.Met513Ile SP substitution exon 1 VAR_018901 Q01831:p.Gln632Glu SP substitution exon 1 VAR_018902 Q01831:p.Arg671His SP substitution exon 1 VAR_018903 Q01831:p.Thr689Met SP substitution exon 1 VAR_018905 P03372:p.Gly77Ser SP substitution exon 1 VAR_018906 P27540:p.Asp517Glu SP substitution exon 1 VAR_018907 P49888:p.Asp22Tyr SP substitution exon 1 VAR_018908 P51587:p.Lys322Gln SP substitution exon 1 VAR_018909 P51587:p.Leu929Ser SP substitution exon 1 VAR_018910 P51587:p.Ser976Phe SP substitution exon 1 VAR_018911 P51587:p.Asn987Ile SP substitution exon 1 VAR_018912 P51587:p.His1561Asn SP substitution exon 1 VAR_018913 P51587:p.Lys2162Arg SP substitution exon 1 VAR_018914 P51587:p.His2440Arg SP substitution exon 1 VAR_018915 P51587:p.Ser2835Pro SP substitution exon 1 VAR_018916 P51587:p.Glu2856Ala SP substitution exon 1 VAR_018917 P51587:p.Val3244Ile SP substitution exon 1 VAR_018918 P15514:p.Asp80Val SP substitution exon 1 VAR_018919 P15514:p.Tyr81Cys SP substitution exon 1 VAR_018920 Q07011:p.Ala56Thr SP substitution exon 1 VAR_018921 Q07011:p.Lys115Asn SP substitution exon 1 VAR_018922 Q07011:p.Ala176Asp SP substitution exon 1 VAR_018923 P61812:p.Val207Leu SP substitution exon 1 VAR_018924 P43220:p.Pro7Leu SP substitution exon 1 VAR_018925 P43220:p.Arg20Lys SP substitution exon 1 VAR_018926 P43220:p.Arg44His SP substitution exon 1 VAR_018927 P43220:p.Arg131Gln SP substitution exon 1 VAR_018928 P43220:p.Gly168Ser SP substitution exon 1 VAR_018929 P43220:p.Ala316Thr SP substitution exon 1 VAR_018930 P43220:p.Ser333Cys SP substitution exon 1 VAR_018931 P43220:p.Arg421Gln SP substitution exon 1 VAR_018932 P24592:p.Arg128Gly SP substitution exon 1 VAR_018933 P24592:p.Arg217Gln SP substitution exon 1 VAR_018934 O00622:p.Arg334Trp SP substitution exon 1 VAR_018935 Q9Y6C5:p.Glu346Gln SP substitution exon 1 VAR_018936 Q9Y6C5:p.Glu493Lys SP substitution exon 1 VAR_018937 Q9Y6C5:p.His622Tyr SP substitution exon 1 VAR_018941 Q14191:p.Glu343Lys SP substitution exon 1 VAR_018942 Q14191:p.Asn533Ser SP substitution exon 1 VAR_018943 Q14191:p.Ser612Cys SP substitution exon 1 VAR_018944 Q14191:p.Ser708Phe SP substitution exon 1 VAR_018948 P29475:p.Pro228Ser SP substitution exon 1 VAR_018949 P29475:p.Asp394Ala SP substitution exon 1 VAR_018950 P29475:p.Asn725Asp SP substitution exon 1 VAR_018951 P29475:p.Gly864Asp SP substitution exon 1 VAR_018952 P29475:p.Gln1064Arg SP substitution exon 1 VAR_018953 P14555:p.His19Tyr SP substitution exon 1 VAR_018954 P35222:p.Met688Val SP substitution exon 1 VAR_018955 Q92956:p.Ala117Thr SP substitution exon 1 VAR_018956 Q92956:p.Gly174Glu SP substitution exon 1 VAR_018957 O00300:p.Val104Met SP substitution exon 1 VAR_018958 P10632:p.Ile244Val SP substitution exon 1 VAR_018959 Q16270:p.Leu11Phe SP substitution exon 1 VAR_018960 Q14565:p.Met200Val SP substitution exon 1 VAR_018961 O60733:p.Val58Ile SP substitution exon 1 VAR_018962 O60733:p.Arg63Gly SP substitution exon 1 VAR_018963 O60733:p.Arg70Gln SP substitution exon 1 VAR_018964 O60733:p.Asp183Asn SP substitution exon 1 VAR_018965 O60733:p.Ala343Thr SP substitution exon 1 VAR_018966 Q13724:p.Arg486Thr SP substitution exon 1 VAR_018968 O75443:p.Arg371Gly SP substitution exon 1 VAR_018969 O75443:p.Val932Ala SP substitution exon 1 VAR_018970 O75443:p.Cys1057Ser SP substitution exon 1 VAR_018971 O75443:p.Cys1619Ser SP substitution exon 1 VAR_018972 O75443:p.Ser1724Asn SP substitution exon 1 VAR_018973 O75443:p.Leu1820Phe SP substitution exon 1 VAR_018974 O75443:p.Gly1824Asp SP substitution exon 1 VAR_018975 O75443:p.Cys1837Gly SP substitution exon 1 VAR_018976 O75443:p.Tyr1870Cys SP substitution exon 1 VAR_018977 O75443:p.Arg2021His SP substitution exon 1 VAR_018978 O75443:p.Ser2100Thr SP substitution exon 1 VAR_018979 P80404:p.Gln56Arg SP substitution exon 1 VAR_018980 Q9NP59:p.Arg561Gly SP substitution exon 1 VAR_018981 P30838:p.Ser134Ala SP substitution exon 1 VAR_018982 P30838:p.Gly309Glu SP substitution exon 1 VAR_018983 Q9H267:p.Leu30Pro SP substitution exon 1 VAR_018984 Q8TET4:p.Leu11Val SP substitution exon 1 VAR_018985 Q8TET4:p.Gln44Arg SP substitution exon 1 VAR_018986 Q8TET4:p.Ile153Met SP substitution exon 1 VAR_018987 Q8TET4:p.Asp443Glu SP substitution exon 1 VAR_018988 Q8TET4:p.Phe845Ser SP substitution exon 1 VAR_018989 Q8TET4:p.Gln848Arg SP substitution exon 1 VAR_018990 Q14209:p.Gly205Arg SP substitution exon 1 VAR_018991 Q14209:p.Gln226His SP substitution exon 1 VAR_018992 Q9HB65:p.Gln11Glu SP substitution exon 1 VAR_018993 Q9BXM7:p.Pro305Leu SP substitution exon 1 VAR_018994 Q9BXM7:p.Gly309Asp SP substitution exon 1 VAR_018995 Q9BXM7:p.Ala340Thr SP substitution exon 1 VAR_018996 Q9BXM7:p.Asn521Thr SP substitution exon 1 VAR_018998 P82251:p.Pro52Leu SP substitution exon 1 VAR_018999 P82251:p.Gly63Arg SP substitution exon 1 VAR_019000 P82251:p.Trp69Leu SP substitution exon 1 VAR_019001 P82251:p.Ala70Val SP substitution exon 1 VAR_019002 P82251:p.Thr123Met SP substitution exon 1 VAR_019003 P82251:p.Ala126Thr SP substitution exon 1 VAR_019005 P82251:p.Ile187Phe SP substitution exon 1 VAR_019007 P82251:p.Leu223Met SP substitution exon 1 VAR_019008 P82251:p.Trp230Arg SP substitution exon 1 VAR_019009 P82251:p.Ile241Thr SP substitution exon 1 VAR_019011 P82251:p.Arg333Trp SP substitution exon 1 VAR_019012 P82251:p.Ser379Arg SP substitution exon 1 VAR_019013 P82251:p.Ala382Thr SP substitution exon 1 VAR_019014 O14813:p.Ala72Val SP substitution exon 1 VAR_019016 O14813:p.Pro256Gln SP substitution exon 1 VAR_019017 P15848:p.Ser65Phe SP substitution exon 1 VAR_019019 P15848:p.Pro116His SP substitution exon 1 VAR_019020 P15848:p.Met142Ile SP substitution exon 1 VAR_019021 P15848:p.Gly144Arg SP substitution exon 1 VAR_019022 P15848:p.Trp146Leu SP substitution exon 1 VAR_019023 P15848:p.Trp146Arg SP substitution exon 1 VAR_019024 P15848:p.Trp146Ser SP substitution exon 1 VAR_019025 P15848:p.Cys192Arg SP substitution exon 1 VAR_019026 P15848:p.Gln239Arg SP substitution exon 1 VAR_019027 P15848:p.Trp312Cys SP substitution exon 1 VAR_019028 P15848:p.Arg315Gln SP substitution exon 1 VAR_019029 P15848:p.Leu321Pro SP substitution exon 1 VAR_019030 P15848:p.Ser384Asn SP substitution exon 1 VAR_019031 P15848:p.Phe399Leu SP substitution exon 1 VAR_019032 P15848:p.Arg484Gly SP substitution exon 1 VAR_019033 P15848:p.Cys521Tyr SP substitution exon 1 VAR_019034 P15848:p.Pro531Arg SP substitution exon 1 VAR_019036 P53634:p.Val129Glu SP substitution exon 1 VAR_019037 P53634:p.Gly139Arg SP substitution exon 1 VAR_019038 P53634:p.Asp236Tyr SP substitution exon 1 VAR_019039 P53634:p.Arg272His SP substitution exon 1 VAR_019040 P53634:p.Cys291Tyr SP substitution exon 1 VAR_019041 P53634:p.Gly300Asp SP substitution exon 1 VAR_019042 P53634:p.Gly300Ser SP substitution exon 1 VAR_019043 P53634:p.Gly301Val SP substitution exon 1 VAR_019044 P53634:p.Tyr304Asn SP substitution exon 1 VAR_019045 P53634:p.Gln312Arg SP substitution exon 1 VAR_019049 P16671:p.Ser127Leu SP substitution exon 1 VAR_019050 Q8NBK3:p.Leu20Phe SP substitution exon 1 VAR_019051 Q8NBK3:p.Ala177Pro SP substitution exon 1 VAR_019052 Q8NBK3:p.Arg224Trp SP substitution exon 1 VAR_019053 Q8NBK3:p.Asn259Ile SP substitution exon 1 VAR_019054 Q8NBK3:p.Pro266Leu SP substitution exon 1 VAR_019055 P07741:p.Gln121Arg SP substitution exon 1 VAR_019067 P36551:p.Ser208Phe SP substitution exon 1 VAR_019068 P36551:p.Arg328Cys SP substitution exon 1 VAR_019069 P36551:p.Arg447Cys SP substitution exon 1 VAR_019070 Q8NHU6:p.Val150Ala SP substitution exon 1 VAR_019071 Q9Y6N7:p.Ser1055Asn SP substitution exon 1 VAR_019073 Q96MS0:p.Glu319Lys SP substitution exon 1 VAR_019074 Q96MS0:p.Arg703Pro SP substitution exon 1 VAR_019075 Q96MS0:p.Ser705Pro SP substitution exon 1 VAR_019078 Q9NY15:p.Met2506Thr SP substitution exon 1 VAR_019079 P00390:p.Arg153Cys SP substitution exon 1 VAR_019080 P00390:p.Gly232Ser SP substitution exon 1 VAR_019081 P00390:p.Ile261Val SP substitution exon 1 VAR_019082 P00390:p.Glu297Asp SP substitution exon 1 VAR_019083 Q9BUI4:p.His243Arg SP substitution exon 1 VAR_019084 Q8IZT6:p.Ser2562Gly SP substitution exon 1 VAR_019085 Q8IZT6:p.Leu2647Ile SP substitution exon 1 VAR_019086 Q8IZT6:p.Leu3132Arg SP substitution exon 1 VAR_019101 O96017:p.Ala17Ser SP substitution exon 1 VAR_019102 O96017:p.Pro85Leu SP substitution exon 1 VAR_019103 O96017:p.Arg180Cys SP substitution exon 1 VAR_019104 O96017:p.Arg181Cys SP substitution exon 1 VAR_019105 O96017:p.Arg181His SP substitution exon 1 VAR_019106 O96017:p.Glu239Lys SP substitution exon 1 VAR_019107 O96017:p.Glu64Lys SP substitution exon 1 VAR_019108 O96017:p.Arg145Pro SP substitution exon 1 VAR_019109 O96017:p.Gly167Arg SP substitution exon 1 VAR_019110 O96017:p.Arg180His SP substitution exon 1 VAR_019111 O96017:p.Ile251Phe SP substitution exon 1 VAR_019112 O96017:p.Arg318His SP substitution exon 1 VAR_019113 O96017:p.Thr323Pro SP substitution exon 1 VAR_019114 O96017:p.Tyr327Cys SP substitution exon 1 VAR_019117 Q9BS40:p.His53Arg SP substitution exon 1 VAR_019119 Q96MS0:p.Leu5Pro SP substitution exon 1 VAR_019120 Q96MS0:p.Ile66Leu SP substitution exon 1 VAR_019121 Q96MS0:p.Gly361Glu SP substitution exon 1 VAR_019122 P49247:p.Ala135Val SP substitution exon 1 VAR_019123 Q14524:p.Tyr1795Cys SP substitution exon 1 VAR_019124 Q14524:p.Tyr1795His SP substitution exon 1 VAR_019125 Q8N554:p.Arg275Trp SP substitution exon 1 VAR_019131 P14778:p.Ala124Gly SP substitution exon 1 VAR_019132 P27930:p.Glu181Lys SP substitution exon 1 VAR_019133 P27930:p.Glu292Lys SP substitution exon 1 VAR_019134 P14151:p.Phe193Leu SP substitution exon 1 VAR_019135 P14151:p.Glu201Gln SP substitution exon 1 VAR_019136 P14151:p.Pro213Ser SP substitution exon 1 VAR_019138 P29372:p.Lys22Gln SP substitution exon 1 VAR_019139 O15197:p.Gly122Ser SP substitution exon 1 VAR_019140 O15197:p.Pro282Arg SP substitution exon 1 VAR_019141 O15197:p.Ser324Ala SP substitution exon 1 VAR_019142 O15197:p.Arg499Gln SP substitution exon 1 VAR_019143 P58753:p.Ala9Pro SP substitution exon 1 VAR_019144 P58753:p.Arg13Trp SP substitution exon 1 VAR_019145 P58753:p.Asp96Asn SP substitution exon 1 VAR_019146 P58753:p.Ser180Leu SP substitution exon 1 VAR_019147 P16442:p.Gly35Arg SP substitution exon 1 VAR_019148 P16442:p.Val36Phe SP substitution exon 1 VAR_019149 P16442:p.Arg63His SP substitution exon 1 VAR_019150 P16442:p.Pro74Ser SP substitution exon 1 VAR_019151 P16442:p.Arg161His SP substitution exon 1 VAR_019152 P16442:p.Arg199Cys SP substitution exon 1 VAR_019155 P02749:p.Arg154His SP substitution exon 1 VAR_019156 Q14242:p.Met62Ile SP substitution exon 1 VAR_019157 Q14242:p.Pro246Ser SP substitution exon 1 VAR_019160 Q02928:p.Phe434Ser SP substitution exon 1 VAR_019161 P23219:p.Arg53His SP substitution exon 1 VAR_019162 P23219:p.Arg149Leu SP substitution exon 1 VAR_019163 P23219:p.Leu237Met SP substitution exon 1 VAR_019164 Q16581:p.Val136Ala SP substitution exon 1 VAR_019165 P09601:p.Asp7His SP substitution exon 1 VAR_019166 P54277:p.Glu27Gln SP substitution exon 1 VAR_019167 P07992:p.Ala266Thr SP substitution exon 1 VAR_019168 P30043:p.Arg46Gln SP substitution exon 1 VAR_019169 Q12981:p.Gln14His SP substitution exon 1 VAR_019170 Q13156:p.Ala33Thr SP substitution exon 1 VAR_019171 P09874:p.Val334Ile SP substitution exon 1 VAR_019172 P09874:p.Ser383Tyr SP substitution exon 1 VAR_019173 P09874:p.Lys940Arg SP substitution exon 1 VAR_019174 Q9UGN5:p.Ser161Asn SP substitution exon 1 VAR_019175 Q9UGN5:p.Asn168Ser SP substitution exon 1 VAR_019176 Q9UGN5:p.Asp235Gly SP substitution exon 1 VAR_019177 Q9UGN5:p.Ile285Val SP substitution exon 1 VAR_019178 Q9UGN5:p.Arg296Gln SP substitution exon 1 VAR_019179 P78527:p.Ala6Ser SP substitution exon 1 VAR_019180 P78527:p.Met333Ile SP substitution exon 1 VAR_019181 P78527:p.Thr605Ser SP substitution exon 1 VAR_019182 P78527:p.Ile680Met SP substitution exon 1 VAR_019183 P78527:p.Pro695Ser SP substitution exon 1 VAR_019184 P78527:p.Asn1071Ser SP substitution exon 1 VAR_019185 P78527:p.Gly1314Val SP substitution exon 1 VAR_019186 P78527:p.Asp1588Val SP substitution exon 1 VAR_019187 P78527:p.Gln1603His SP substitution exon 1 VAR_019188 P78527:p.Ala2095Val SP substitution exon 1 VAR_019189 P78527:p.Lys2702Glu SP substitution exon 1 VAR_019190 P78527:p.Arg2899Cys SP substitution exon 1 VAR_019191 P78527:p.Gly3149Asp SP substitution exon 1 VAR_019192 P78527:p.Pro3201Ser SP substitution exon 1 VAR_019193 P78527:p.Gly3404Glu SP substitution exon 1 VAR_019194 P78527:p.Ile3434Thr SP substitution exon 1 VAR_019195 P78527:p.Asn3459Ser SP substitution exon 1 VAR_019196 P78527:p.Leu3562Met SP substitution exon 1 VAR_019197 P78527:p.Pro3836Leu SP substitution exon 1 VAR_019198 P78527:p.Met3932Val SP substitution exon 1 VAR_019199 P14210:p.Glu304Lys SP substitution exon 1 VAR_019200 P14210:p.Asp330Tyr SP substitution exon 1 VAR_019202 P23771:p.Gly242Ser SP substitution exon 1 VAR_019203 Q14005:p.Arg889Gln SP substitution exon 1 VAR_019204 Q14005:p.Ser906Leu SP substitution exon 1 VAR_019205 Q14005:p.Asn1147Lys SP substitution exon 1 VAR_019206 P01024:p.Arg863Lys SP substitution exon 1 VAR_019207 P01024:p.Gly1224Asp SP substitution exon 1 VAR_019208 P01024:p.Ile1367Thr SP substitution exon 1 VAR_019209 Q9NRM6:p.Phe278Leu SP substitution exon 1 VAR_019210 Q9NRM6:p.Ile451Thr SP substitution exon 1 VAR_019211 Q9NRM6:p.Asn458Ser SP substitution exon 1 VAR_019212 Q9NRM6:p.Cys499Arg SP substitution exon 1 VAR_019213 P52630:p.Gln826His SP substitution exon 1 VAR_019218 P43351:p.Arg70Trp SP substitution exon 1 VAR_019219 P43351:p.Gln221Glu SP substitution exon 1 VAR_019220 P43351:p.Ser287Asn SP substitution exon 1 VAR_019221 P06401:p.Ala50Thr SP substitution exon 1 VAR_019222 P06401:p.Ala120Val SP substitution exon 1 VAR_019223 P06401:p.Pro186Leu SP substitution exon 1 VAR_019224 P06401:p.Met301Arg SP substitution exon 1 VAR_019225 P06401:p.Ala444Ser SP substitution exon 1 VAR_019226 P06401:p.Val529Leu SP substitution exon 1 VAR_019227 P06401:p.Gln536Pro SP substitution exon 1 VAR_019228 P06401:p.Leu651Val SP substitution exon 1 VAR_019229 P62508:p.Thr50Met SP substitution exon 1 VAR_019230 P53004:p.Ala3Thr SP substitution exon 1 VAR_019231 P53004:p.Leu37Val SP substitution exon 1 VAR_019232 Q9UJX2:p.Glu78Gln SP substitution exon 1 VAR_019233 P43246:p.Tyr43Cys SP substitution exon 1 VAR_019234 P43246:p.Asn127Ser SP substitution exon 1 VAR_019235 O43929:p.Asn78Ser SP substitution exon 1 VAR_019236 P27694:p.Thr351Ala SP substitution exon 1 VAR_019237 P08246:p.Val219Ile SP substitution exon 1 VAR_019238 P08246:p.Pro257Leu SP substitution exon 1 VAR_019239 P08246:p.Pro262Leu SP substitution exon 1 VAR_019240 O60318:p.Ser102Leu SP substitution exon 1 VAR_019241 O60318:p.Met288Val SP substitution exon 1 VAR_019242 O60318:p.Arg333Leu SP substitution exon 1 VAR_019243 O60318:p.Pro413Leu SP substitution exon 1 VAR_019244 O60318:p.Pro1051Leu SP substitution exon 1 VAR_019245 O60318:p.Val1062Met SP substitution exon 1 VAR_019246 O60318:p.Arg1314Trp SP substitution exon 1 VAR_019247 O60318:p.Asp1449Glu SP substitution exon 1 VAR_019248 O60318:p.Val1576Ile SP substitution exon 1 VAR_019249 O60318:p.Ala1795Thr SP substitution exon 1 VAR_019250 O60318:p.Leu1870Arg SP substitution exon 1 VAR_019251 O60318:p.Ala1941Val SP substitution exon 1 VAR_019252 P35372:p.Asn152Asp SP substitution exon 1 VAR_019253 P35372:p.Arg265Cys SP substitution exon 1 VAR_019254 P35372:p.Asp274Asn SP substitution exon 1 VAR_019255 O00311:p.Gln23Pro SP substitution exon 1 VAR_019256 O00311:p.Ile99Val SP substitution exon 1 VAR_019257 O00311:p.Gly112Trp SP substitution exon 1 VAR_019258 O00311:p.Phe162Leu SP substitution exon 1 VAR_019259 O00311:p.Lys441Arg SP substitution exon 1 VAR_019260 Q96T60:p.Pro20Ser SP substitution exon 1 VAR_019261 Q96T60:p.Ala63Val SP substitution exon 1 VAR_019262 Q96T60:p.Arg180Ser SP substitution exon 1 VAR_019263 Q96T60:p.Tyr196Asn SP substitution exon 1 VAR_019267 P54098:p.Arg193Gln SP substitution exon 1 VAR_019268 P98174:p.Ser205Ile SP substitution exon 1 VAR_019269 P98174:p.Pro312Leu SP substitution exon 1 VAR_019270 P98174:p.Glu380Ala SP substitution exon 1 VAR_019271 P98174:p.Arg443His SP substitution exon 1 VAR_019272 Q9H9S5:p.Arg54Trp SP substitution exon 1 VAR_019273 P01185:p.Val67Ala SP substitution exon 1 VAR_019274 P01185:p.Gly96Asp SP substitution exon 1 VAR_019275 P01185:p.Cys104Gly SP substitution exon 1 VAR_019276 P01185:p.Cys116Trp SP substitution exon 1 VAR_019277 P01042:p.Gly163Ser SP substitution exon 1 VAR_019278 P01042:p.Met178Thr SP substitution exon 1 VAR_019279 P01042:p.Leu212Pro SP substitution exon 1 VAR_019280 P01589:p.Ile272Thr SP substitution exon 1 VAR_019281 P15260:p.Val61Ile SP substitution exon 1 VAR_019282 P15260:p.His335Pro SP substitution exon 1 VAR_019283 P15260:p.Leu467Pro SP substitution exon 1 VAR_019284 P24593:p.Arg138Trp SP substitution exon 1 VAR_019285 P24530:p.Pro5Thr SP substitution exon 1 VAR_019286 O75419:p.Val81Ile SP substitution exon 1 VAR_019287 O75419:p.Val376Met SP substitution exon 1 VAR_019288 P49959:p.Asp468Gly SP substitution exon 1 VAR_019289 P49959:p.Met698Val SP substitution exon 1 VAR_019290 P11362:p.Arg22Ser SP substitution exon 1 VAR_019291 P11362:p.Gly818Arg SP substitution exon 1 VAR_019292 P11362:p.Arg822Cys SP substitution exon 1 VAR_019293 P00533:p.Arg98Gln SP substitution exon 1 VAR_019294 P00533:p.Pro266Arg SP substitution exon 1 VAR_019295 P00533:p.Arg521Lys SP substitution exon 1 VAR_019296 P00533:p.Val674Ile SP substitution exon 1 VAR_019297 P00533:p.Gly719Ser SP substitution exon 1 VAR_019298 P00533:p.Leu858Arg SP substitution exon 1 VAR_019299 P00533:p.Arg962Gly SP substitution exon 1 VAR_019300 P00533:p.His988Pro SP substitution exon 1 VAR_019301 O95073:p.Arg226Lys SP substitution exon 1 VAR_019302 P19438:p.Cys59Ser SP substitution exon 1 VAR_019303 P19438:p.Cys62Gly SP substitution exon 1 VAR_019304 P19438:p.Cys99Ser SP substitution exon 1 VAR_019305 P19438:p.Arg121Pro SP substitution exon 1 VAR_019306 P31939:p.Thr116Ser SP substitution exon 1 VAR_019307 P31939:p.Lys426Arg SP substitution exon 1 VAR_019308 O75844:p.Trp340Arg SP substitution exon 1 VAR_019310 P31639:p.Asn654Ser SP substitution exon 1 VAR_019311 P30968:p.Asn10Lys SP substitution exon 1 VAR_019312 P30968:p.Glu90Lys SP substitution exon 1 VAR_019313 P30968:p.Gln106Arg SP substitution exon 1 VAR_019314 P30968:p.Ala129Asp SP substitution exon 1 VAR_019315 P30968:p.Arg139His SP substitution exon 1 VAR_019316 P30968:p.Ser168Arg SP substitution exon 1 VAR_019317 P30968:p.Ala171Thr SP substitution exon 1 VAR_019318 P30968:p.Ser217Arg SP substitution exon 1 VAR_019319 P30968:p.Arg262Gln SP substitution exon 1 VAR_019320 P30968:p.Tyr284Cys SP substitution exon 1 VAR_019322 P00325:p.Asn57Lys SP substitution exon 1 VAR_019323 P00325:p.Thr60Ser SP substitution exon 1 VAR_019325 Q16558:p.Glu65Lys SP substitution exon 1 VAR_019326 Q8IY92:p.Pro1122Leu SP substitution exon 1 VAR_019327 Q8IY92:p.Ser1271Phe SP substitution exon 1 VAR_019328 Q8IU89:p.Arg370Gly SP substitution exon 1 VAR_019329 P19438:p.His51Gln SP substitution exon 1 VAR_019330 P19438:p.Pro75Leu SP substitution exon 1 VAR_019331 P19438:p.Ser115Gly SP substitution exon 1 VAR_019332 P19438:p.Arg121Gln SP substitution exon 1 VAR_019333 Q9NP99:p.Thr25Ser SP substitution exon 1 VAR_019334 Q9NZC2:p.Asp134Gly SP substitution exon 1 VAR_019335 Q9NZC2:p.Lys186Asn SP substitution exon 1 VAR_019336 P52333:p.Pro132Thr SP substitution exon 1 VAR_019338 P52333:p.Asp169Glu SP substitution exon 1 VAR_019339 P52333:p.Gly589Ser SP substitution exon 1 VAR_019340 P28340:p.Arg19His SP substitution exon 1 VAR_019341 P28340:p.Arg119His SP substitution exon 1 VAR_019342 P28340:p.Ser173Asn SP substitution exon 1 VAR_019343 P28340:p.Arg177His SP substitution exon 1 VAR_019344 P28340:p.Arg849His SP substitution exon 1 VAR_019345 P28340:p.Arg1086Gln SP substitution exon 1 VAR_019346 Q96RT1:p.Ser274Leu SP substitution exon 1 VAR_019347 Q96RT1:p.Ser1112Leu SP substitution exon 1 VAR_019348 Q96RT1:p.Lys1207Glu SP substitution exon 1 VAR_019349 Q99741:p.Thr238Ala SP substitution exon 1 VAR_019350 Q99741:p.Asp295Asn SP substitution exon 1 VAR_019351 Q99741:p.Thr299Met SP substitution exon 1 VAR_019352 Q99741:p.Arg378His SP substitution exon 1 VAR_019353 Q99741:p.Val441Ile SP substitution exon 1 VAR_019354 Q9NWZ3:p.Ser98Arg SP substitution exon 1 VAR_019357 O95243:p.Ala273Ser SP substitution exon 1 VAR_019358 O95243:p.Ser342Pro SP substitution exon 1 VAR_019359 O95243:p.Glu346Lys SP substitution exon 1 VAR_019360 O95243:p.Asp568His SP substitution exon 1 VAR_019361 Q13724:p.Glu236Gln SP substitution exon 1 VAR_019362 Q13724:p.Asp239Asn SP substitution exon 1 VAR_019363 P04179:p.Ser10Ile SP substitution exon 1 VAR_019364 P04179:p.Glu66Val SP substitution exon 1 VAR_019365 P04179:p.Arg156Trp SP substitution exon 1 VAR_019366 P10909:p.Asn317His SP substitution exon 1 VAR_019367 P10909:p.Asp328Asn SP substitution exon 1 VAR_019368 P10909:p.Ser396Leu SP substitution exon 1 VAR_019369 Q9GZU1:p.Leu106Pro SP substitution exon 1 VAR_019370 Q9GZU1:p.Thr232Pro SP substitution exon 1 VAR_019371 Q9GZU1:p.Asp362Tyr SP substitution exon 1 VAR_019373 Q9GZU1:p.Val446Leu SP substitution exon 1 VAR_019374 Q9GZU1:p.Leu447Pro SP substitution exon 1 VAR_019375 Q9GZU1:p.Phe465Leu SP substitution exon 1 VAR_019376 Q8N387:p.Ile184Thr SP substitution exon 1 VAR_019377 Q8N387:p.Thr202Ile SP substitution exon 1 VAR_019379 P06400:p.Gln436Lys SP substitution exon 1 VAR_019380 P06400:p.Ala525Gly SP substitution exon 1 VAR_019392 P57773:p.Val497Ile SP substitution exon 1 VAR_019393 Q8N119:p.Val191Ala SP substitution exon 1 VAR_019394 Q96C10:p.Gln425Arg SP substitution exon 1 VAR_019395 Q96C10:p.Arg523Gln SP substitution exon 1 VAR_019396 Q96L93:p.Arg824Ser SP substitution exon 1 VAR_019397 Q96L93:p.Met1027Thr SP substitution exon 1 VAR_019399 Q7Z4S6:p.Met356Thr SP substitution exon 1 VAR_019400 Q7Z4S6:p.Met947Arg SP substitution exon 1 VAR_019401 Q7Z4S6:p.Met947Val SP substitution exon 1 VAR_019402 Q7Z4S6:p.Arg954Gln SP substitution exon 1 VAR_019403 Q7Z4S6:p.Arg954Trp SP substitution exon 1 VAR_019404 Q7Z4S6:p.Ile1010Thr SP substitution exon 1 VAR_019405 P08603:p.Cys536Arg SP substitution exon 1 VAR_019406 P08603:p.Cys959Tyr SP substitution exon 1 VAR_019407 P08603:p.Leu1189Arg SP substitution exon 1 VAR_019408 P08603:p.Ser1191Leu SP substitution exon 1 VAR_019410 P22309:p.Leu15Arg SP substitution exon 1 VAR_019411 P22309:p.Leu175Gln SP substitution exon 1 VAR_019412 P22309:p.Asn400Asp SP substitution exon 1 VAR_019414 O15266:p.Leu132Val SP substitution exon 1 VAR_019415 O15266:p.Arg153Leu SP substitution exon 1 VAR_019416 O15266:p.Arg168Trp SP substitution exon 1 VAR_019417 Q16854:p.Arg142Lys SP substitution exon 1 VAR_019418 Q16854:p.Glu227Lys SP substitution exon 1 VAR_019419 O00142:p.Ile53Met SP substitution exon 1 VAR_019420 O00142:p.Thr108Met SP substitution exon 1 VAR_019421 O00142:p.His121Asn SP substitution exon 1 VAR_019423 Q9H596:p.Met186Thr SP substitution exon 1 VAR_019425 Q6UB98:p.Ser171Thr SP substitution exon 1 VAR_019426 Q8N743:p.Val168Ile SP substitution exon 1 VAR_019427 O00411:p.Glu555Ala SP substitution exon 1 VAR_019428 P20648:p.Val265Ala SP substitution exon 1 VAR_019429 Q14160:p.Pro422Leu SP substitution exon 1 VAR_019431 Q9BTT6:p.Ile193Val SP substitution exon 1 VAR_019432 Q96LB2:p.Ile36Val SP substitution exon 1 VAR_019433 Q96LB1:p.Asn62Ser SP substitution exon 1 VAR_019434 Q96LB0:p.Asn169Asp SP substitution exon 1 VAR_019435 Q96LA9:p.Phe8Leu SP substitution exon 1 VAR_019436 Q96LA9:p.Asn25Lys SP substitution exon 1 VAR_019437 Q96LA9:p.Tyr54Cys SP substitution exon 1 VAR_019438 Q96LA9:p.Leu83Ser SP substitution exon 1 VAR_019439 Q9UBP0:p.Leu378Gln SP substitution exon 1 VAR_019440 Q9UBP0:p.Asn386Ser SP substitution exon 1 VAR_019441 Q9UBP0:p.Met390Val SP substitution exon 1 VAR_019442 Q9UBP0:p.Arg503Leu SP substitution exon 1 VAR_019444 Q9UBP0:p.Leu534Pro SP substitution exon 1 VAR_019445 Q9UBP0:p.Thr614Ile SP substitution exon 1 VAR_019446 Q8WXF7:p.Ala161Pro SP substitution exon 1 VAR_019447 Q8WXF7:p.His247Pro SP substitution exon 1 VAR_019448 Q9UBP0:p.Ile344Lys SP substitution exon 1 VAR_019450 Q9UBP0:p.Ser407Arg SP substitution exon 1 VAR_019451 Q9UBP0:p.Ala551Tyr SP substitution exon 1 VAR_019452 Q9UBP0:p.Thr615Ile SP substitution exon 1 VAR_019453 Q8N4C6:p.Pro1111Ala SP substitution exon 1 VAR_019454 Q8N4C6:p.Gly1320Glu SP substitution exon 1 VAR_019455 Q8N4C6:p.Ser1837Thr SP substitution exon 1 VAR_019456 Q86YF9:p.Pro736Ser SP substitution exon 1 VAR_019457 Q8WW01:p.Gly19Asp SP substitution exon 1 VAR_019458 Q8WW01:p.Gln59His SP substitution exon 1 VAR_019459 Q7Z6J9:p.Glu4Asp SP substitution exon 1 VAR_019461 Q7Z6J9:p.His38Gln SP substitution exon 1 VAR_019462 Q7Z6J9:p.Lys347Asn SP substitution exon 1 VAR_019463 Q7Z6J9:p.Ala437Val SP substitution exon 1 VAR_019464 Q9H1I8:p.Arg509Gln SP substitution exon 1 VAR_019465 O95278:p.Ser25Pro SP substitution exon 1 VAR_019466 O95278:p.Glu28Lys SP substitution exon 1 VAR_019467 O95278:p.Trp32Gly SP substitution exon 1 VAR_019468 O95278:p.Ala46Pro SP substitution exon 1 VAR_019469 O95278:p.Phe84Leu SP substitution exon 1 VAR_019470 O95278:p.Phe88Leu SP substitution exon 1 VAR_019471 O95278:p.Arg91Pro SP substitution exon 1 VAR_019472 O95278:p.Arg108Cys SP substitution exon 1 VAR_019473 O95278:p.Glu114Asp SP substitution exon 1 VAR_019474 O95278:p.Arg171His SP substitution exon 1 VAR_019482 Q6VVB1:p.Cys26Ser SP substitution exon 1 VAR_019483 Q6VVB1:p.Phe33Ser SP substitution exon 1 VAR_019484 Q6VVB1:p.Pro69Ala SP substitution exon 1 VAR_019485 Q6VVB1:p.Leu87Pro SP substitution exon 1 VAR_019486 Q6VVB1:p.Pro111Leu SP substitution exon 1 VAR_019487 Q6VVB1:p.Asp146Asn SP substitution exon 1 VAR_019488 Q6VVB1:p.Gln302Pro SP substitution exon 1 VAR_019489 Q7Z3T8:p.Ile192Thr SP substitution exon 1 VAR_019490 Q7Z3T8:p.Ile598Thr SP substitution exon 1 VAR_019491 Q7Z3T8:p.Ser1055Gly SP substitution exon 1 VAR_019492 Q86YB8:p.His465Gln SP substitution exon 1 VAR_019493 Q75N90:p.Gly119Ala SP substitution exon 1 VAR_019494 Q75N90:p.Arg473Gln SP substitution exon 1 VAR_019495 Q75N90:p.Asp662Asn SP substitution exon 1 VAR_019496 Q75N90:p.Arg935Leu SP substitution exon 1 VAR_019497 Q75N90:p.Val938Phe SP substitution exon 1 VAR_019498 Q75N90:p.Arg1083Trp SP substitution exon 1 VAR_019499 Q75N90:p.Ser1293Asn SP substitution exon 1 VAR_019500 Q75N90:p.Val1326Ile SP substitution exon 1 VAR_019501 Q75N90:p.Gly1614Ser SP substitution exon 1 VAR_019502 Q75N90:p.Arg1806Gln SP substitution exon 1 VAR_019503 Q75N90:p.Asn1869Lys SP substitution exon 1 VAR_019504 Q75N90:p.Leu1904Pro SP substitution exon 1 VAR_019505 Q75N90:p.Pro1958His SP substitution exon 1 VAR_019506 Q75N90:p.Glu2610Asp SP substitution exon 1 VAR_019507 Q8WTV0:p.Ser229Gly SP substitution exon 1 VAR_019509 P35348:p.Cys347Arg SP substitution exon 1 VAR_019510 P35368:p.Val51Gly SP substitution exon 1 VAR_019511 Q96PE7:p.Arg104Leu SP substitution exon 1 VAR_019512 Q05209:p.Val322Ile SP substitution exon 1 VAR_019513 Q9UIS9:p.Pro401Ala SP substitution exon 1 VAR_019514 O95243:p.Ala273Thr SP substitution exon 1 VAR_019515 O95243:p.Ile358Thr SP substitution exon 1 VAR_019516 Q9BUN8:p.Ile171Val SP substitution exon 1 VAR_019518 Q6KC79:p.Ser135Asn SP substitution exon 1 VAR_019519 Q6KC79:p.Cys1311Arg SP substitution exon 1 VAR_019520 Q6KC79:p.Leu1348Arg SP substitution exon 1 VAR_019521 Q6KC79:p.Tyr2430Cys SP substitution exon 1 VAR_019522 P12314:p.Leu105Pro SP substitution exon 1 VAR_019523 P98194:p.Cys490Phe SP substitution exon 1 VAR_019524 P98194:p.Leu584Pro SP substitution exon 1 VAR_019525 Q99665:p.Thr201Ile SP substitution exon 1 VAR_019526 Q99665:p.Arg313Gly SP substitution exon 1 VAR_019528 Q9H015:p.Ile306Thr SP substitution exon 1 VAR_019529 Q9H015:p.Gly462Glu SP substitution exon 1 VAR_019530 Q9H015:p.Leu503Phe SP substitution exon 1 VAR_019531 Q9NWM0:p.His522Tyr SP substitution exon 1 VAR_019532 P28331:p.Arg241Trp SP substitution exon 1 VAR_019533 P28331:p.Asp252Gly SP substitution exon 1 VAR_019534 P49821:p.Glu214Lys SP substitution exon 1 VAR_019535 O75306:p.Arg228Gln SP substitution exon 1 VAR_019536 O75306:p.Pro229Gln SP substitution exon 1 VAR_019537 O75306:p.Ser413Pro SP substitution exon 1 VAR_019538 O00217:p.Pro79Leu SP substitution exon 1 VAR_019539 O00217:p.Arg102His SP substitution exon 1 VAR_019540 Q96HZ4:p.Arg218Gln SP substitution exon 1 VAR_019541 Q8WWQ8:p.Pro510His SP substitution exon 1 VAR_019542 Q9NS23:p.Lys21Gln SP substitution exon 1 VAR_019543 Q9NS23:p.Arg53Cys SP substitution exon 1 VAR_019544 Q9NS23:p.Asp133Glu SP substitution exon 1 VAR_019545 Q9NS23:p.Ser135Phe SP substitution exon 1 VAR_019546 Q9NS23:p.Ala137Ser SP substitution exon 1 VAR_019549 Q9UBE8:p.Val177Ala SP substitution exon 1 VAR_019550 Q9UPQ3:p.Glu829Lys SP substitution exon 1 VAR_019551 Q96GW7:p.Glu504Lys SP substitution exon 1 VAR_019556 Q9HA82:p.Gly301Ser SP substitution exon 1 VAR_019558 Q8N5B7:p.Cys75Arg SP substitution exon 1 VAR_019559 Q92698:p.Pro63His SP substitution exon 1 VAR_019560 Q92698:p.Lys151Glu SP substitution exon 1 VAR_019561 Q92698:p.Gly325Arg SP substitution exon 1 VAR_019562 Q92698:p.Val444Glu SP substitution exon 1 VAR_019563 Q9Y620:p.Asp418Tyr SP substitution exon 1 VAR_019564 Q9Y620:p.Asn593Ser SP substitution exon 1 VAR_019565 Q99828:p.Ser44Thr SP substitution exon 1 VAR_019566 Q07001:p.Ser289Phe SP substitution exon 1 VAR_019567 Q04844:p.Leu98Pro SP substitution exon 1 VAR_019568 Q04844:p.Leu241Phe SP substitution exon 1 VAR_019569 Q13488:p.Gly405Arg SP substitution exon 1 VAR_019570 Q13488:p.Arg444Leu SP substitution exon 1 VAR_019571 Q13485:p.Gly352Arg SP substitution exon 1 VAR_019572 Q13485:p.Arg361Cys SP substitution exon 1 VAR_019573 Q13485:p.Gly386Asp SP substitution exon 1 VAR_019574 Q9NQI0:p.Gly148Asp SP substitution exon 1 VAR_019576 Q8N4A0:p.Ile270Thr SP substitution exon 1 VAR_019577 Q8N4A0:p.Val506Ile SP substitution exon 1 VAR_019578 Q7Z7M9:p.Pro77Leu SP substitution exon 1 VAR_019579 Q7Z7M9:p.Gln489His SP substitution exon 1 VAR_019580 Q8NCL4:p.Val423Ile SP substitution exon 1 VAR_019581 Q9NY28:p.Tyr53Asp SP substitution exon 1 VAR_019582 Q9NY28:p.Tyr53Asn SP substitution exon 1 VAR_019583 Q9NY28:p.Glu267Gly SP substitution exon 1 VAR_019584 Q9NY28:p.Phe312Ser SP substitution exon 1 VAR_019585 Q9NY28:p.Ala337Val SP substitution exon 1 VAR_019586 Q9NY28:p.Asp438Gly SP substitution exon 1 VAR_019587 Q9NY28:p.Val515Phe SP substitution exon 1 VAR_019588 Q9NY28:p.Val611Met SP substitution exon 1 VAR_019589 Q8NCW6:p.Pro151Ser SP substitution exon 1 VAR_019590 Q8NCW6:p.Asp197Tyr SP substitution exon 1 VAR_019592 Q7Z4T8:p.Cys124Arg SP substitution exon 1 VAR_019596 Q7KZN9:p.Arg217Trp SP substitution exon 1 VAR_019597 Q86UK0:p.Ser459Thr SP substitution exon 1 VAR_019598 Q86UK0:p.Asn1380Ser SP substitution exon 1 VAR_019599 Q86UK0:p.Gly1381Glu SP substitution exon 1 VAR_019600 Q86UK0:p.Arg1514His SP substitution exon 1 VAR_019603 Q8TE73:p.His12Gln SP substitution exon 1 VAR_019604 Q8TE73:p.Gly24Glu SP substitution exon 1 VAR_019605 Q8TE73:p.Thr558Ala SP substitution exon 1 VAR_019606 Q8TE73:p.Gln2463Arg SP substitution exon 1 VAR_019607 Q8TE73:p.Leu2862Phe SP substitution exon 1 VAR_019608 Q8TE73:p.Gly3519Arg SP substitution exon 1 VAR_019609 Q8TE73:p.Ala4134Val SP substitution exon 1 VAR_019610 Q8TE73:p.Thr4220Ala SP substitution exon 1 VAR_019611 Q8TE73:p.Ile4450Val SP substitution exon 1 VAR_019612 P11137:p.Ala82Gly SP substitution exon 1 VAR_019613 P11137:p.Arg423Lys SP substitution exon 1 VAR_019614 P54687:p.Glu321Lys SP substitution exon 1 VAR_019615 Q9H3P7:p.Glu187Asp SP substitution exon 1 VAR_019616 Q8WVM8:p.Lys63Arg SP substitution exon 1 VAR_019617 Q6ZVN8:p.Cys80Arg SP substitution exon 1 VAR_019618 Q6ZVN8:p.Ser85Pro SP substitution exon 1 VAR_019619 Q6ZVN8:p.Gly99Arg SP substitution exon 1 VAR_019620 Q6ZVN8:p.Leu101Pro SP substitution exon 1 VAR_019621 Q6ZVN8:p.Ala168Asp SP substitution exon 1 VAR_019622 Q6ZVN8:p.Phe170Ser SP substitution exon 1 VAR_019623 Q6ZVN8:p.Asp172Glu SP substitution exon 1 VAR_019624 Q6ZVN8:p.Trp191Cys SP substitution exon 1 VAR_019625 Q6ZVN8:p.Ser205Arg SP substitution exon 1 VAR_019626 Q6ZVN8:p.Ile222Asn SP substitution exon 1 VAR_019627 Q6ZVN8:p.Gly250Val SP substitution exon 1 VAR_019628 Q6ZVN8:p.Arg288Trp SP substitution exon 1 VAR_019630 P34982:p.Arg25Gln SP substitution exon 1 VAR_019632 O00444:p.Ser232Thr SP substitution exon 1 VAR_019633 Q9Y5E8:p.Ser474Arg SP substitution exon 1 VAR_019634 Q9Y5E8:p.Arg494Gln SP substitution exon 1 VAR_019635 Q9NZV5:p.Gly273Glu SP substitution exon 1 VAR_019636 Q9NZV5:p.His293Arg SP substitution exon 1 VAR_019637 Q9NZV5:p.Gly315Ser SP substitution exon 1 VAR_019638 Q9NZV5:p.Asn340Ile SP substitution exon 1 VAR_019639 Q9NZV5:p.Trp453Ser SP substitution exon 1 VAR_019640 Q9NZV5:p.Sec462Gly SP substitution exon 1 VAR_019641 Q9NZV5:p.Arg466Gln SP substitution exon 1 VAR_019646 O75752:p.Glu266Ala SP substitution exon 1 VAR_019647 O75752:p.Gly271Arg SP substitution exon 1 VAR_019648 Q99572:p.Arg270His SP substitution exon 1 VAR_019649 Q99572:p.Tyr155His SP substitution exon 1 VAR_019650 Q99572:p.Thr357Ser SP substitution exon 1 VAR_019651 Q99572:p.Gln460Arg SP substitution exon 1 VAR_019652 Q99572:p.Glu496Ala SP substitution exon 1 VAR_019653 Q9BX66:p.Arg74Trp SP substitution exon 1 VAR_019654 Q9BX66:p.Thr237Ala SP substitution exon 1 VAR_019655 Q9H1L0:p.Val27Ala SP substitution exon 1 VAR_019656 Q14183:p.Gly48Ser SP substitution exon 1 VAR_019658 P62917:p.Ile98Val SP substitution exon 1 VAR_019659 Q9H0M4:p.Thr153Ala SP substitution exon 1 VAR_019669 P49441:p.Thr228Ala SP substitution exon 1 VAR_019670 Q9UMS6:p.Thr573Ala SP substitution exon 1 VAR_019671 Q9H987:p.Pro707Leu SP substitution exon 1 VAR_019672 Q8TCU5:p.Val362Met SP substitution exon 1 VAR_019673 Q8TCU5:p.Gly487Arg SP substitution exon 1 VAR_019674 Q8TCU5:p.Asp835Asn SP substitution exon 1 VAR_019676 O60391:p.Thr157Met SP substitution exon 1 VAR_019677 O60391:p.Arg404Trp SP substitution exon 1 VAR_019678 O60391:p.Trp414Arg SP substitution exon 1 VAR_019679 O60391:p.Thr577Met SP substitution exon 1 VAR_019680 O60391:p.Ala845Thr SP substitution exon 1 VAR_019681 Q9ULL4:p.Val598Ile SP substitution exon 1 VAR_019682 Q9ULL4:p.Met1535Thr SP substitution exon 1 VAR_019683 O15194:p.Ser121Pro SP substitution exon 1 VAR_019684 O15194:p.Asn127Ser SP substitution exon 1 VAR_019685 O15194:p.Val132Gly SP substitution exon 1 VAR_019686 Q9BWD1:p.Lys211Arg SP substitution exon 1 VAR_019687 Q9UL12:p.Arg614His SP substitution exon 1 VAR_019688 Q9UL12:p.Met648Val SP substitution exon 1 VAR_019689 Q9Y385:p.Gly55Val SP substitution exon 1 VAR_019690 Q9Y385:p.Leu229Val SP substitution exon 1 VAR_019695 P02812:p.Ser274Pro SP substitution exon 1 VAR_019697 Q16821:p.Arg883Ser SP substitution exon 1 VAR_019698 Q16821:p.Asp905Tyr SP substitution exon 1 VAR_019699 Q16821:p.Ala931Glu SP substitution exon 1 VAR_019700 P22897:p.Thr167Ile SP substitution exon 1 VAR_019704 Q9NUQ9:p.Asn169Lys SP substitution exon 1 VAR_019706 P47895:p.Met386Val SP substitution exon 1 VAR_019707 Q9Y6D9:p.Ser29Leu SP substitution exon 1 VAR_019708 Q9Y6D9:p.Arg59Cys SP substitution exon 1 VAR_019709 Q9Y6D9:p.Asn160Ser SP substitution exon 1 VAR_019710 Q9Y6D9:p.Thr299Ala SP substitution exon 1 VAR_019711 Q9Y6D9:p.Arg360Gln SP substitution exon 1 VAR_019721 P22792:p.Val536Met SP substitution exon 1 VAR_019722 P22792:p.Ala305Thr SP substitution exon 1 VAR_019724 P48048:p.Asn124Lys SP substitution exon 1 VAR_019725 P48048:p.Ala214Val SP substitution exon 1 VAR_019726 P48048:p.Ser219Arg SP substitution exon 1 VAR_019727 P48048:p.Met357Thr SP substitution exon 1 VAR_019728 Q99712:p.Gly98Asp SP substitution exon 1 VAR_019729 Q8IY92:p.Ala1221Val SP substitution exon 1 VAR_019730 Q8IZJ1:p.Ala516Thr SP substitution exon 1 VAR_019731 O95185:p.Gly37Val SP substitution exon 1 VAR_019732 O95185:p.Met721Thr SP substitution exon 1 VAR_019733 O60260:p.Val15Met SP substitution exon 1 VAR_019734 O60260:p.Arg33Gln SP substitution exon 1 VAR_019735 O60260:p.Pro37Leu SP substitution exon 1 VAR_019736 O60260:p.Arg42Pro SP substitution exon 1 VAR_019737 O60260:p.Ala46Pro SP substitution exon 1 VAR_019738 O60260:p.Ala82Glu SP substitution exon 1 VAR_019739 O60260:p.Ala92Val SP substitution exon 1 VAR_019740 O60260:p.Gln100His SP substitution exon 1 VAR_019741 O60260:p.Lys161Asn SP substitution exon 1 VAR_019742 O60260:p.Ser167Asn SP substitution exon 1 VAR_019743 O60260:p.Met192Val SP substitution exon 1 VAR_019744 O60260:p.Lys211Asn SP substitution exon 1 VAR_019745 O60260:p.Lys211Arg SP substitution exon 1 VAR_019746 O60260:p.Cys212Tyr SP substitution exon 1 VAR_019747 O60260:p.Thr240Met SP substitution exon 1 VAR_019748 O60260:p.Thr240Arg SP substitution exon 1 VAR_019749 O60260:p.Cys253Tyr SP substitution exon 1 VAR_019750 O60260:p.Arg256Cys SP substitution exon 1 VAR_019751 O60260:p.Arg271Ser SP substitution exon 1 VAR_019752 O60260:p.Arg275Trp SP substitution exon 1 VAR_019768 Q15788:p.Gln457Lys SP substitution exon 1 VAR_019769 Q15788:p.Asn466Lys SP substitution exon 1 VAR_019770 Q15788:p.Ser474Pro SP substitution exon 1 VAR_019771 Q15788:p.Ile591Thr SP substitution exon 1 VAR_019772 Q15788:p.Glu685Ala SP substitution exon 1 VAR_019773 Q15788:p.Pro794Ala SP substitution exon 1 VAR_019774 Q15788:p.Ser999Phe SP substitution exon 1 VAR_019775 Q15788:p.Met1154Thr SP substitution exon 1 VAR_019776 P63316:p.Leu29Gln SP substitution exon 1 VAR_019777 Q9BRX2:p.Leu221Met SP substitution exon 1 VAR_019783 Q8WZ55:p.Arg8Leu SP substitution exon 1 VAR_019784 Q8WZ55:p.Arg8Trp SP substitution exon 1 VAR_019785 Q8WZ55:p.Gly10Ser SP substitution exon 1 VAR_019786 Q8WZ55:p.Gly47Arg SP substitution exon 1 VAR_019787 P51800:p.Arg83Gly SP substitution exon 1 VAR_019788 P51800:p.Tyr315Phe SP substitution exon 1 VAR_019789 Q9NRM7:p.Ala324Val SP substitution exon 1 VAR_019790 P27695:p.Asp148Glu SP substitution exon 1 VAR_019791 Q9UHF1:p.Val153Ile SP substitution exon 1 VAR_019794 Q96RI8:p.Ile37Thr SP substitution exon 1 VAR_019795 Q96RI8:p.Gly165Ser SP substitution exon 1 VAR_019796 Q96RI8:p.Tyr173Cys SP substitution exon 1 VAR_019797 Q96RI8:p.Ala228Val SP substitution exon 1 VAR_019798 Q96RI8:p.Val265Ile SP substitution exon 1 VAR_019799 Q96RI8:p.Cys291Tyr SP substitution exon 1 VAR_019800 Q96RI8:p.Val326Ile SP substitution exon 1 VAR_019801 Q9H8L6:p.Gly49Ser SP substitution exon 1 VAR_019802 Q9H8L6:p.His731Asp SP substitution exon 1 VAR_019803 Q96A84:p.Ala107Gly SP substitution exon 1 VAR_019804 Q6GYQ0:p.Thr931Ala SP substitution exon 1 VAR_019806 Q9Y6Y8:p.Lys644Glu SP substitution exon 1 VAR_019807 Q8N3L3:p.Ala11Thr SP substitution exon 1 VAR_019809 Q9NUQ3:p.Ile246Val SP substitution exon 1 VAR_019810 P13535:p.Arg674Gln SP substitution exon 1 VAR_019811 O95461:p.Glu509Lys SP substitution exon 1 VAR_019812 Q9Y616:p.Ile147Val SP substitution exon 1 VAR_019813 P51610:p.Ser1164Pro SP substitution exon 1 VAR_019814 Q9UBX5:p.Val60Leu SP substitution exon 1 VAR_019815 Q9UBX5:p.Arg71Gln SP substitution exon 1 VAR_019816 Q9UBX5:p.Pro87Ser SP substitution exon 1 VAR_019817 Q9UBX5:p.Ile169Thr SP substitution exon 1 VAR_019818 Q9UBX5:p.Arg351Trp SP substitution exon 1 VAR_019819 Q9UBX5:p.Ala363Thr SP substitution exon 1 VAR_019820 Q9UBX5:p.Gly412Glu SP substitution exon 1 VAR_019821 Q14626:p.Pro65Thr SP substitution exon 1 VAR_019822 Q14626:p.Arg395Trp SP substitution exon 1 VAR_019823 O43303:p.Ile252Met SP substitution exon 1 VAR_019824 O43303:p.Met375Ile SP substitution exon 1 VAR_019836 P02458:p.Pro158Leu SP substitution exon 1 VAR_019838 P36222:p.Arg145Gly SP substitution exon 1 VAR_019839 P36222:p.Ile311Thr SP substitution exon 1 VAR_019840 Q14749:p.Asn141Ser SP substitution exon 1 VAR_019841 O60762:p.Ser248Pro SP substitution exon 1 VAR_019842 P08590:p.Glu56Gly SP substitution exon 1 VAR_019843 P08590:p.Glu143Lys SP substitution exon 1 VAR_019845 P12883:p.Val39Met SP substitution exon 1 VAR_019846 P12883:p.Thr188Asn SP substitution exon 1 VAR_019847 P12883:p.Arg204His SP substitution exon 1 VAR_019848 P12883:p.Asn232Ser SP substitution exon 1 VAR_019849 P12883:p.Ala355Thr SP substitution exon 1 VAR_019850 P12883:p.Ala428Val SP substitution exon 1 VAR_019851 P12883:p.Ile443Thr SP substitution exon 1 VAR_019852 P12883:p.Asn479Ser SP substitution exon 1 VAR_019853 P12883:p.Glu483Lys SP substitution exon 1 VAR_019854 P12883:p.Met659Ile SP substitution exon 1 VAR_019855 P12883:p.Arg663His SP substitution exon 1 VAR_019856 P12883:p.Arg663Ser SP substitution exon 1 VAR_019857 P12883:p.Arg671Cys SP substitution exon 1 VAR_019858 P12883:p.Gly733Glu SP substitution exon 1 VAR_019859 P12883:p.Gly768Arg SP substitution exon 1 VAR_019860 P12883:p.Asp778Glu SP substitution exon 1 VAR_019861 P12883:p.Arg787His SP substitution exon 1 VAR_019862 P12883:p.Met852Thr SP substitution exon 1 VAR_019863 P12883:p.Arg869Gly SP substitution exon 1 VAR_019865 P12883:p.Leu1135Arg SP substitution exon 1 VAR_019866 P12883:p.Glu1218Gln SP substitution exon 1 VAR_019867 P12883:p.Thr1377Met SP substitution exon 1 VAR_019868 P12883:p.Ala1379Thr SP substitution exon 1 VAR_019869 P12883:p.Arg1382Trp SP substitution exon 1 VAR_019870 P12883:p.Val1692Met SP substitution exon 1 VAR_019871 P12883:p.Ala1777Thr SP substitution exon 1 VAR_019872 P19429:p.Arg141Gln SP substitution exon 1 VAR_019873 P19429:p.Ala157Val SP substitution exon 1 VAR_019874 P19429:p.Arg162Pro SP substitution exon 1 VAR_019876 P19429:p.Arg186Gln SP substitution exon 1 VAR_019881 O15232:p.Pro11Ser SP substitution exon 1 VAR_019882 O15232:p.Thr120Met SP substitution exon 1 VAR_019883 O15232:p.Ala128Pro SP substitution exon 1 VAR_019884 O15232:p.Glu134Lys SP substitution exon 1 VAR_019885 O15232:p.Ile192Asn SP substitution exon 1 VAR_019886 O15232:p.Ala219Asp SP substitution exon 1 VAR_019887 O15232:p.Glu252Lys SP substitution exon 1 VAR_019888 O15232:p.Cys304Ser SP substitution exon 1 VAR_019902 Q9GZX5:p.Leu66Pro SP substitution exon 1 VAR_019903 Q9GZX5:p.Ser472Pro SP substitution exon 1 VAR_019904 Q9GZX5:p.Arg501Ser SP substitution exon 1 VAR_019905 Q9GZX5:p.Val524Ile SP substitution exon 1 VAR_019906 Q9P232:p.Ser630Asn SP substitution exon 1 VAR_019907 O94779:p.Ser23Ala SP substitution exon 1 VAR_019908 O94779:p.Leu70Arg SP substitution exon 1 VAR_019909 O94779:p.Asn81Ser SP substitution exon 1 VAR_019910 O94779:p.Ile530Val SP substitution exon 1 VAR_019913 Q9UQ52:p.Ala440Ser SP substitution exon 1 VAR_019914 Q6S5H4:p.His30Asp SP substitution exon 1 VAR_019915 Q6S5H4:p.Met43Val SP substitution exon 1 VAR_019920 Q6S5H4:p.Gln286Glu SP substitution exon 1 VAR_019921 Q6S5H4:p.Lys511Glu SP substitution exon 1 VAR_019922 Q6S5H4:p.Met535Lys SP substitution exon 1 VAR_019923 Q6S5H4:p.Ala568Val SP substitution exon 1 VAR_019924 Q8WWA0:p.Val109Asp SP substitution exon 1 VAR_019925 Q8WWA0:p.Arg313Pro SP substitution exon 1 VAR_019926 Q8WWU7:p.Arg103His SP substitution exon 1 VAR_019928 Q99640:p.Arg140Cys SP substitution exon 1 VAR_019929 Q99640:p.Pro417Arg SP substitution exon 1 VAR_019931 Q9H8W5:p.Cys375Tyr SP substitution exon 1 VAR_019932 Q9H8W5:p.Arg413Gln SP substitution exon 1 VAR_019933 Q9H8W5:p.Met496Thr SP substitution exon 1 VAR_019934 P50993:p.Thr378Asn SP substitution exon 1 VAR_019935 P50993:p.Arg689Gln SP substitution exon 1 VAR_019936 P50993:p.Met731Thr SP substitution exon 1 VAR_019937 P50993:p.Leu764Pro SP substitution exon 1 VAR_019938 P50993:p.Trp887Arg SP substitution exon 1 VAR_019939 P51508:p.Ala3Val SP substitution exon 1 VAR_019940 P51508:p.Asn157Ser SP substitution exon 1 VAR_019941 P51508:p.Ser179Asn SP substitution exon 1 VAR_019942 P51508:p.Ser185Leu SP substitution exon 1 VAR_019943 P51508:p.Ile499Val SP substitution exon 1 VAR_019944 P38398:p.Gly275Ser SP substitution exon 1 VAR_019951 P35443:p.Leu55Gln SP substitution exon 1 VAR_019952 P35443:p.Ala387Pro SP substitution exon 1 VAR_019953 P35443:p.Ala420Val SP substitution exon 1 VAR_019954 P35443:p.Val646Ile SP substitution exon 1 VAR_019955 Q96LC7:p.Ala226Val SP substitution exon 1 VAR_019956 Q96LC7:p.Arg520Ser SP substitution exon 1 VAR_019957 Q9UNH5:p.Arg345Gln SP substitution exon 1 VAR_019958 Q9UNH5:p.Ser589Phe SP substitution exon 1 VAR_019959 O60729:p.Ile302Thr SP substitution exon 1 VAR_019960 O60729:p.Ile341Thr SP substitution exon 1 VAR_019961 Q9NST1:p.Ile148Met SP substitution exon 1 VAR_019963 Q9BX84:p.Ser141Leu SP substitution exon 1 VAR_019964 Q9BX84:p.Asn1071Asp SP substitution exon 1 VAR_019965 Q9BX84:p.Val1393Ile SP substitution exon 1 VAR_019966 Q9BX84:p.Lys1584Glu SP substitution exon 1 VAR_019967 Q96QT4:p.Thr1482Ile SP substitution exon 1 VAR_019968 Q15911:p.Glu460Gln SP substitution exon 1 VAR_019969 O95863:p.Val118Ala SP substitution exon 1 VAR_019970 P41182:p.Ala493Thr SP substitution exon 1 VAR_019971 P08047:p.Thr737Ala SP substitution exon 1 VAR_019972 P51504:p.Asp253Ala SP substitution exon 1 VAR_019973 Q15928:p.Lys124Glu SP substitution exon 1 VAR_019974 O43670:p.Ala224Ser SP substitution exon 1 VAR_019975 Q9UL59:p.Leu128His SP substitution exon 1 VAR_019976 Q9UL59:p.Ile185Arg SP substitution exon 1 VAR_019977 Q14588:p.Val16Ile SP substitution exon 1 VAR_019979 Q9HCX3:p.Leu121Pro SP substitution exon 1 VAR_019980 Q96PQ6:p.Gln19His SP substitution exon 1 VAR_019981 Q96LW9:p.Thr50Ser SP substitution exon 1 VAR_019982 Q9Y2H8:p.Gln43Arg SP substitution exon 1 VAR_019983 O75626:p.Gly74Ser SP substitution exon 1 VAR_019985 O15060:p.Pro689Ala SP substitution exon 1 VAR_019986 Q15746:p.Leu861Pro SP substitution exon 1 VAR_019987 Q15746:p.Asp914Glu SP substitution exon 1 VAR_019990 P51955:p.Asn354Ser SP substitution exon 1 VAR_019991 Q9UEE5:p.Lys362Glu SP substitution exon 1 VAR_019992 Q9H4A3:p.Thr665Ile SP substitution exon 1 VAR_019993 Q9NQU5:p.Met76Val SP substitution exon 1 VAR_019994 Q9NQU5:p.His215Arg SP substitution exon 1 VAR_019995 Q9NQU5:p.Pro337Leu SP substitution exon 1 VAR_019996 Q13873:p.Ser775Asn SP substitution exon 1 VAR_019997 Q99735:p.Ala101Val SP substitution exon 1 VAR_019998 P14784:p.Asp391Glu SP substitution exon 1 VAR_019999 P24394:p.Ser387Leu SP substitution exon 1 VAR_020001 P29460:p.Val33Ile SP substitution exon 1 VAR_020002 P10912:p.Val162Phe SP substitution exon 1 VAR_020003 P38484:p.Thr58Arg SP substitution exon 1 VAR_020004 Q13651:p.Ile224Val SP substitution exon 1 VAR_020005 P20742:p.Val813Ala SP substitution exon 1 VAR_020006 Q9NX02:p.Ala1052Glu SP substitution exon 1 VAR_020007 Q96MN2:p.Gln925Leu SP substitution exon 1 VAR_020008 P25445:p.Ala16Thr SP substitution exon 1 VAR_020009 P25445:p.Thr122Ile SP substitution exon 1 VAR_020010 P08138:p.Ser205Leu SP substitution exon 1 VAR_020011 Q9UNE0:p.Val370Ala SP substitution exon 1 VAR_020012 P02461:p.Ile1205Val SP substitution exon 1 VAR_020013 P02462:p.Gln1334His SP substitution exon 1 VAR_020015 P25940:p.Arg134His SP substitution exon 1 VAR_020016 P25940:p.Arg1207Pro SP substitution exon 1 VAR_020017 P25940:p.Val1428Met SP substitution exon 1 VAR_020018 P25940:p.Ile1594Met SP substitution exon 1 VAR_020019 P25940:p.Val1691Ile SP substitution exon 1 VAR_020020 Q9NP86:p.Val128Ala SP substitution exon 1 VAR_020021 P32241:p.Arg445Leu SP substitution exon 1 VAR_020022 Q9NYQ7:p.Ala157Pro SP substitution exon 1 VAR_020023 Q9NYQ7:p.Ser805Thr SP substitution exon 1 VAR_020024 Q08050:p.Ser643Pro SP substitution exon 1 VAR_020025 O15353:p.Arg69Cys SP substitution exon 1 VAR_020026 O15353:p.Ala599Pro SP substitution exon 1 VAR_020028 P05000:p.Arg95Ser SP substitution exon 1 VAR_020029 Q92523:p.Ile66Val SP substitution exon 1 VAR_020030 P28072:p.Pro107Ala SP substitution exon 1 VAR_020031 P11678:p.Asn572Tyr SP substitution exon 1 VAR_020032 O94759:p.Asp543Glu SP substitution exon 1 VAR_020033 P54219:p.Ser98Thr SP substitution exon 1 VAR_020034 Q16572:p.Ala13Pro SP substitution exon 1 VAR_020035 Q16572:p.Arg29Trp SP substitution exon 1 VAR_020037 P38570:p.Gln892His SP substitution exon 1 VAR_020038 Q9UKX5:p.Met471Leu SP substitution exon 1 VAR_020039 Q9UKX5:p.Gln891Lys SP substitution exon 1 VAR_020041 O43310:p.Pro82Leu SP substitution exon 1 VAR_020042 O60308:p.Ala686Val SP substitution exon 1 VAR_020044 O75330:p.Val368Ala SP substitution exon 1 VAR_020045 Q14197:p.Arg8Pro SP substitution exon 1 VAR_020047 P46013:p.Glu1403Val SP substitution exon 1 VAR_020048 P23975:p.Thr283Arg SP substitution exon 1 VAR_020049 Q16790:p.Gln326Arg SP substitution exon 1 VAR_020050 Q9P0X4:p.Gly1782Arg SP substitution exon 1 VAR_020051 Q09470:p.Arg204His SP substitution exon 1 VAR_020052 Q96KK3:p.Ile489Val SP substitution exon 1 VAR_020053 P12821:p.Asp592Gly SP substitution exon 1 VAR_020054 P14780:p.Asn127Lys SP substitution exon 1 VAR_020055 P51511:p.Gly609Arg SP substitution exon 1 VAR_020056 Q16819:p.Val469Leu SP substitution exon 1 VAR_020057 Q9P0K1:p.Pro81Arg SP substitution exon 1 VAR_020058 O95450:p.Val245Ile SP substitution exon 1 VAR_020059 O95450:p.Pro1177Ser SP substitution exon 1 VAR_020061 P12643:p.Ser37Ala SP substitution exon 1 VAR_020062 P12643:p.Ala106Thr SP substitution exon 1 VAR_020063 P12645:p.Arg192Gln SP substitution exon 1 VAR_020064 Q9NR23:p.Val328Leu SP substitution exon 1 VAR_020066 P41597:p.Leu45Val SP substitution exon 1 VAR_020067 P51677:p.Gly21Asp SP substitution exon 1 VAR_020068 P51686:p.Met284Val SP substitution exon 1 VAR_020070 P41968:p.Val44Ile SP substitution exon 1 VAR_020071 P30989:p.Val304Ile SP substitution exon 1 VAR_020072 P32745:p.Ser251Phe SP substitution exon 1 VAR_020073 P35346:p.Pro335Leu SP substitution exon 1 VAR_020074 Q96G91:p.Ala87Thr SP substitution exon 1 VAR_020075 P49685:p.Pro37Ser SP substitution exon 1 VAR_020076 O14842:p.Arg211His SP substitution exon 1 VAR_020077 O60218:p.Pro87Ser SP substitution exon 1 VAR_020078 O60218:p.Met286Thr SP substitution exon 1 VAR_020079 Q99795:p.Asp20Asn SP substitution exon 1 VAR_020080 O60469:p.Asp232Glu SP substitution exon 1 VAR_020081 Q9P2V4:p.Ser591Gly SP substitution exon 1 VAR_020082 P09326:p.Glu102Gln SP substitution exon 1 VAR_020083 P54296:p.Thr776Met SP substitution exon 1 VAR_020087 O15389:p.Pro499Ala SP substitution exon 1 VAR_020091 P12319:p.Lys84Arg SP substitution exon 1 VAR_020092 P12319:p.Ser101Asn SP substitution exon 1 VAR_020093 P19075:p.Gly73Ala SP substitution exon 1 VAR_020094 O00322:p.Met257Thr SP substitution exon 1 VAR_020095 Q9NXR5:p.Pro320Leu SP substitution exon 1 VAR_020097 P55040:p.Arg43Gly SP substitution exon 1 VAR_020100 Q14093:p.Lys190Glu SP substitution exon 1 VAR_020101 Q14093:p.Gly208Asp SP substitution exon 1 VAR_020102 Q14093:p.Ala319Glu SP substitution exon 1 VAR_020104 Q14241:p.Thr145Met SP substitution exon 1 VAR_020105 Q9NRM1:p.Pro724Leu SP substitution exon 1 VAR_020106 P54136:p.Val3Ile SP substitution exon 1 VAR_020107 P54136:p.Phe397Tyr SP substitution exon 1 VAR_020109 Q99728:p.Ser241Cys SP substitution exon 1 VAR_020110 P38398:p.Asn723Asp SP substitution exon 1 VAR_020111 P38398:p.Phe989Ser SP substitution exon 1 VAR_020113 P15918:p.Asp302Glu SP substitution exon 1 VAR_020114 P15918:p.Glu880Lys SP substitution exon 1 VAR_020115 O75677:p.Met127Thr SP substitution exon 1 VAR_020116 Q969Q1:p.Lys237Glu SP substitution exon 1 VAR_020117 O00463:p.Asn186His SP substitution exon 1 VAR_020119 Q9Y297:p.Pro592His SP substitution exon 1 VAR_020120 P57081:p.Lys71Asn SP substitution exon 1 VAR_020121 Q8TEB1:p.Arg207His SP substitution exon 1 VAR_020122 P04798:p.Ile286Thr SP substitution exon 1 VAR_020123 P33261:p.Pro227Leu SP substitution exon 1 VAR_020124 P24462:p.Arg409Thr SP substitution exon 1 VAR_020125 P78329:p.Ala269Asp SP substitution exon 1 VAR_020126 P55212:p.Thr182Ser SP substitution exon 1 VAR_020128 Q9Y399:p.His294Arg SP substitution exon 1 VAR_020130 Q9GZQ3:p.Ala6Thr SP substitution exon 1 VAR_020131 Q9UKA4:p.Ser721Cys SP substitution exon 1 VAR_020132 Q9NWT8:p.Gln107His SP substitution exon 1 VAR_020133 P28039:p.Ala166Thr SP substitution exon 1 VAR_020134 O96018:p.Lys276Thr SP substitution exon 1 VAR_020141 P25054:p.Thr1496Ser SP substitution exon 1 VAR_020142 P25054:p.Ser1973Thr SP substitution exon 1 VAR_020143 O15265:p.Val862Met SP substitution exon 1 VAR_020144 Q9NQS1:p.Gln228Arg SP substitution exon 1 VAR_020145 O43491:p.Gln17His SP substitution exon 1 VAR_020146 P30307:p.Gly297Arg SP substitution exon 1 VAR_020148 Q9BXT6:p.Arg182Cys SP substitution exon 1 VAR_020149 P47902:p.Pro130Arg SP substitution exon 1 VAR_020150 Q9Y2V3:p.Asp44Glu SP substitution exon 1 VAR_020152 Q9UIW0:p.Pro254Arg SP substitution exon 1 VAR_020153 Q08378:p.Gly70Glu SP substitution exon 1 VAR_020154 Q08378:p.Lys1185Arg SP substitution exon 1 VAR_020155 Q14789:p.Thr911Ser SP substitution exon 1 VAR_020156 Q14789:p.Tyr1212Cys SP substitution exon 1 VAR_020157 Q96CN9:p.Cys87Trp SP substitution exon 1 VAR_020158 O75631:p.Ala154Pro SP substitution exon 1 VAR_020161 P01133:p.Ser16Arg SP substitution exon 1 VAR_020162 P01133:p.Arg431Lys SP substitution exon 1 VAR_020163 P01133:p.Gly723Arg SP substitution exon 1 VAR_020164 P01133:p.Asp784Val SP substitution exon 1 VAR_020165 P01133:p.Met842Thr SP substitution exon 1 VAR_020166 P01133:p.Leu1043Phe SP substitution exon 1 VAR_020167 Q92832:p.Arg354Trp SP substitution exon 1 VAR_020168 O75094:p.Glu994Gly SP substitution exon 1 VAR_020169 P24821:p.Ala1781Thr SP substitution exon 1 VAR_020173 O43653:p.Glu39Lys SP substitution exon 1 VAR_020174 Q99445:p.Arg54Cys SP substitution exon 1 VAR_020175 P98073:p.Glu641Lys SP substitution exon 1 VAR_020176 P00742:p.Ala152Thr SP substitution exon 1 VAR_020177 P00742:p.Gly192Arg SP substitution exon 1 VAR_020179 Q9H2R5:p.Pro134Leu SP substitution exon 1 VAR_020180 P03952:p.Ala210Glu SP substitution exon 1 VAR_020181 P00750:p.Ala34Asp SP substitution exon 1 VAR_020182 Q8WXE9:p.Ser307Pro SP substitution exon 1 VAR_020183 Q9Y6Q2:p.Arg127Thr SP substitution exon 1 VAR_020184 Q9Y6Q2:p.Gln544His SP substitution exon 1 VAR_020185 Q9Y6Q2:p.Gln607His SP substitution exon 1 VAR_020186 P54707:p.Pro863Leu SP substitution exon 1 VAR_020187 Q9P241:p.Val1240Ile SP substitution exon 1 VAR_020188 Q92730:p.Pro44Arg SP substitution exon 1 VAR_020189 P27540:p.Pro706Leu SP substitution exon 1 VAR_020190 Q14765:p.Ile115Val SP substitution exon 1 VAR_020191 Q9NZN5:p.Tyr973Phe SP substitution exon 1 VAR_020192 O60229:p.Glu1326Asp SP substitution exon 1 VAR_020193 Q9NZM3:p.Ile1287Thr SP substitution exon 1 VAR_020194 P18858:p.Pro52Leu SP substitution exon 1 VAR_020195 P18858:p.Asp72Gly SP substitution exon 1 VAR_020196 P49916:p.Arg224Trp SP substitution exon 1 VAR_020198 Q9NYW7:p.Arg111His SP substitution exon 1 VAR_020199 Q9NYW7:p.Arg206Trp SP substitution exon 1 VAR_020200 Q9NYW5:p.Thr74Met SP substitution exon 1 VAR_020201 Q9NYW5:p.Val96Leu SP substitution exon 1 VAR_020202 Q9NYW5:p.Ser171Asn SP substitution exon 1 VAR_020203 Q9NYW4:p.Ser26Ile SP substitution exon 1 VAR_020204 Q9NYW1:p.Val187Ala SP substitution exon 1 VAR_020205 Q9NYV7:p.Arg222His SP substitution exon 1 VAR_020207 Q9Y4R7:p.Met502Arg SP substitution exon 1 VAR_020209 Q14739:p.Thr311Ala SP substitution exon 1 VAR_020210 P41440:p.His27Arg SP substitution exon 1 VAR_020212 P11216:p.Asp502Asn SP substitution exon 1 VAR_020213 O14594:p.Pro92Ser SP substitution exon 1 VAR_020214 P13611:p.Gly428Asp SP substitution exon 1 VAR_020217 Q9UGM6:p.Ala267Pro SP substitution exon 1 VAR_020218 P98164:p.Ile2065Thr SP substitution exon 1 VAR_020219 P98164:p.Arg3305His SP substitution exon 1 VAR_020220 P41180:p.Pro951Thr SP substitution exon 1 VAR_020221 P41180:p.Arg990Gly SP substitution exon 1 VAR_020222 O14678:p.Glu368Lys SP substitution exon 1 VAR_020223 P21439:p.Leu238Val SP substitution exon 1 VAR_020225 P21439:p.Arg652Gly SP substitution exon 1 VAR_020226 Q92887:p.Asp333Gly SP substitution exon 1 VAR_020227 Q92887:p.Arg353His SP substitution exon 1 VAR_020228 Q92887:p.Ile670Thr SP substitution exon 1 VAR_020229 Q92887:p.Leu849Arg SP substitution exon 1 VAR_020230 Q92887:p.Ile1036Thr SP substitution exon 1 VAR_020231 Q92887:p.Arg1181Leu SP substitution exon 1 VAR_020232 Q92887:p.Val1188Glu SP substitution exon 1 VAR_020233 Q92887:p.Pro1291Leu SP substitution exon 1 VAR_020234 Q92887:p.Cys1515Tyr SP substitution exon 1 VAR_020235 O15438:p.Ser346Phe SP substitution exon 1 VAR_020237 O15438:p.Arg1297His SP substitution exon 1 VAR_020239 O15438:p.Gln1365Arg SP substitution exon 1 VAR_020240 O15438:p.Arg1381Ser SP substitution exon 1 VAR_020241 O15439:p.Met184Thr SP substitution exon 1 VAR_020242 O15439:p.Gly187Trp SP substitution exon 1 VAR_020243 O15439:p.Lys498Glu SP substitution exon 1 VAR_020244 O15439:p.Met744Val SP substitution exon 1 VAR_020245 O15439:p.Val860Met SP substitution exon 1 VAR_020246 O15439:p.Val900Leu SP substitution exon 1 VAR_020247 Q9NSE7:p.Ser228Asn SP substitution exon 1 VAR_020248 Q9UJA9:p.Leu6Ile SP substitution exon 1 VAR_020249 O43173:p.Lys91Thr SP substitution exon 1 VAR_020250 O15178:p.Asn369Ser SP substitution exon 1 VAR_020251 P57082:p.Gly6Ala SP substitution exon 1 VAR_020252 Q9UL17:p.His33Gln SP substitution exon 1 VAR_020253 Q96CA5:p.Glu223Gln SP substitution exon 1 VAR_020254 O95969:p.Pro53Leu SP substitution exon 1 VAR_020255 O95969:p.Val80Ala SP substitution exon 1 VAR_020256 Q9H489:p.Pro246His SP substitution exon 1 VAR_020257 O94851:p.Arg1089Gln SP substitution exon 1 VAR_020258 Q8N3F8:p.Pro583Leu SP substitution exon 1 VAR_020259 P49619:p.Thr142Ser SP substitution exon 1 VAR_020260 P49619:p.Arg370Trp SP substitution exon 1 VAR_020261 P08603:p.Glu936Asp SP substitution exon 1 VAR_020262 P01024:p.Glu469Asp SP substitution exon 1 VAR_020263 P17927:p.Thr1408Met SP substitution exon 1 VAR_020264 Q8NA92:p.Lys112Arg SP substitution exon 1 VAR_020265 Q9NP94:p.Met80Val SP substitution exon 1 VAR_020266 Q9NP94:p.Gly129Glu SP substitution exon 1 VAR_020267 Q9NP94:p.His154Tyr SP substitution exon 1 VAR_020268 Q9UGP5:p.Thr221Pro SP substitution exon 1 VAR_020269 Q9UGP5:p.Arg438Trp SP substitution exon 1 VAR_020270 Q30201:p.Thr217Ile SP substitution exon 1 VAR_020271 Q8TD07:p.Tyr82Asn SP substitution exon 1 VAR_020272 Q9H0W5:p.Lys507Asn SP substitution exon 1 VAR_020274 P21964:p.Ala102Thr SP substitution exon 1 VAR_020275 P21964:p.Ala146Val SP substitution exon 1 VAR_020276 Q07864:p.Ala252Val SP substitution exon 1 VAR_020277 Q07864:p.Asn336Ser SP substitution exon 1 VAR_020278 Q07864:p.Phe695Ile SP substitution exon 1 VAR_020279 Q07864:p.Tyr1395Cys SP substitution exon 1 VAR_020280 Q07864:p.Asn1396Ser SP substitution exon 1 VAR_020281 Q07864:p.Glu1399Gln SP substitution exon 1 VAR_020282 Q07864:p.Ala2040Val SP substitution exon 1 VAR_020283 Q07864:p.Arg2165His SP substitution exon 1 VAR_020284 Q14289:p.Lys838Thr SP substitution exon 1 VAR_020286 P29597:p.Ile684Ser SP substitution exon 1 VAR_020287 P05060:p.Arg178Gln SP substitution exon 1 VAR_020288 Q9NZ20:p.Leu157Val SP substitution exon 1 VAR_020289 P46721:p.Asn128Tyr SP substitution exon 1 VAR_020290 P46721:p.Asn135Ile SP substitution exon 1 VAR_020291 P46721:p.Glu172Asp SP substitution exon 1 VAR_020292 P46721:p.Ile355Val SP substitution exon 1 VAR_020294 O94956:p.Ser486Phe SP substitution exon 1 VAR_020295 Q9NP59:p.Gln248His SP substitution exon 1 VAR_020296 Q9NP59:p.Met432Val SP substitution exon 1 VAR_020298 Q16690:p.Glu154Asp SP substitution exon 1 VAR_020299 P10586:p.Tyr450Cys SP substitution exon 1 VAR_020300 P10586:p.Asp562Asn SP substitution exon 1 VAR_020301 P23470:p.Gly574Ser SP substitution exon 1 VAR_020302 Q92932:p.Ser325Asn SP substitution exon 1 VAR_020303 P08575:p.Ser1283Arg SP substitution exon 1 VAR_020304 Q13753:p.Ser733Thr SP substitution exon 1 VAR_020305 P50440:p.Gln110His SP substitution exon 1 VAR_020306 O76013:p.Thr315Met SP substitution exon 1 VAR_020307 O43150:p.Glu748Asp SP substitution exon 1 VAR_020308 O75923:p.Arg1242His SP substitution exon 1 VAR_020309 O15374:p.Asn264His SP substitution exon 1 VAR_020310 Q93098:p.Cys11Ser SP substitution exon 1 VAR_020311 O15287:p.Thr297Ile SP substitution exon 1 VAR_020312 P53804:p.Met840Thr SP substitution exon 1 VAR_020313 O15550:p.Thr726Lys SP substitution exon 1 VAR_020315 Q06546:p.Ala291Val SP substitution exon 1 VAR_020316 Q06546:p.Glu345Lys SP substitution exon 1 VAR_020317 Q9Y6X0:p.Pro1130Thr SP substitution exon 1 VAR_020318 Q15437:p.His489Gln SP substitution exon 1 VAR_020319 Q8NI60:p.His85Gln SP substitution exon 1 VAR_020320 Q9UBC5:p.Phe600Leu SP substitution exon 1 VAR_020321 P29083:p.Pro366Ser SP substitution exon 1 VAR_020322 Q16236:p.Ser99Pro SP substitution exon 1 VAR_020323 O00591:p.Phe391Leu SP substitution exon 1 VAR_020324 P23025:p.Leu252Val SP substitution exon 1 VAR_020325 Q9UK55:p.Lys46Arg SP substitution exon 1 VAR_020326 Q9UK55:p.Ser61Gly SP substitution exon 1 VAR_020327 Q9UK55:p.Thr161Ser SP substitution exon 1 VAR_020329 O75711:p.Pro42Leu SP substitution exon 1 VAR_020330 Q9BYH1:p.Met430Ile SP substitution exon 1 VAR_020332 O14669:p.Gly116Cys SP substitution exon 1 VAR_020333 P31942:p.Asn163Ser SP substitution exon 1 VAR_020334 O00206:p.Phe342Tyr SP substitution exon 1 VAR_020335 O00206:p.Ser400Asn SP substitution exon 1 VAR_020336 P14672:p.Ala358Val SP substitution exon 1 VAR_020337 Q9NRM0:p.Arg294His SP substitution exon 1 VAR_020338 O15547:p.Arg242His SP substitution exon 1 VAR_020339 P78508:p.Arg271His SP substitution exon 1 VAR_020340 Q9H3R0:p.Asp396Asn SP substitution exon 1 VAR_020342 Q16548:p.Cys19Tyr SP substitution exon 1 VAR_020343 Q16548:p.Asn39Lys SP substitution exon 1 VAR_020344 Q16548:p.Gly82Asp SP substitution exon 1 VAR_020345 Q9NQZ5:p.Arg140Pro SP substitution exon 1 VAR_020346 Q99985:p.Val337Met SP substitution exon 1 VAR_020347 O76082:p.Phe17Leu SP substitution exon 1 VAR_020348 O76082:p.Leu144Phe SP substitution exon 1 VAR_020349 O76082:p.Val481Phe SP substitution exon 1 VAR_020350 O76082:p.Pro549Ser SP substitution exon 1 VAR_020351 O75751:p.Thr44Met SP substitution exon 1 VAR_020352 O75751:p.Ala116Ser SP substitution exon 1 VAR_020353 P35968:p.Gln472His SP substitution exon 1 VAR_020355 Q9BWW9:p.Thr272Met SP substitution exon 1 VAR_020356 Q9BWW9:p.Thr323Met SP substitution exon 1 VAR_020357 Q9BWW9:p.Ser406Cys SP substitution exon 1 VAR_020358 Q9HCH3:p.Asn33Ser SP substitution exon 1 VAR_020359 P53384:p.Pro39Ala SP substitution exon 1 VAR_020360 Q92673:p.Ala528Thr SP substitution exon 1 VAR_020361 P27816:p.Ser427Tyr SP substitution exon 1 VAR_020362 P27816:p.Glu441Gln SP substitution exon 1 VAR_020363 Q9H347:p.Arg624Gln SP substitution exon 1 VAR_020364 Q02413:p.Tyr841Phe SP substitution exon 1 VAR_020365 Q9Y5E7:p.Val128Ile SP substitution exon 1 VAR_020366 Q9Y5E6:p.Arg414Ser SP substitution exon 1 VAR_020367 Q9Y5E2:p.Val389Leu SP substitution exon 1 VAR_020368 Q9NPG4:p.His385Asn SP substitution exon 1 VAR_020369 Q9NPG4:p.Ser640Asn SP substitution exon 1 VAR_020370 P51825:p.Pro209Ala SP substitution exon 1 VAR_020371 Q9Y239:p.Glu266Lys SP substitution exon 1 VAR_020372 P12872:p.Val15Ala SP substitution exon 1 VAR_020373 O75908:p.Glu14Gly SP substitution exon 1 VAR_020374 O75908:p.Thr254Ile SP substitution exon 1 VAR_020375 P00797:p.Arg33Trp SP substitution exon 1 VAR_020376 P00797:p.Gly217Arg SP substitution exon 1 VAR_020377 P54725:p.Arg179Gln SP substitution exon 1 VAR_020378 Q92562:p.Met364Leu SP substitution exon 1 VAR_020379 Q9H0B6:p.Pro517Ser SP substitution exon 1 VAR_020380 Q9P1Q5:p.Pro285Ser SP substitution exon 1 VAR_020381 O60404:p.Val224Met SP substitution exon 1 VAR_020382 O60404:p.Ser293Asn SP substitution exon 1 VAR_020384 P18440:p.Thr207Ile SP substitution exon 1 VAR_020387 P56748:p.Ser151Pro SP substitution exon 1 VAR_020388 Q9Y5T5:p.Gln141His SP substitution exon 1 VAR_020389 P35573:p.Pro1067Ser SP substitution exon 1 VAR_020390 P57678:p.Arg1033Cys SP substitution exon 1 VAR_020391 Q8WXD5:p.Gly140Asp SP substitution exon 1 VAR_020392 P05112:p.Cys27Arg SP substitution exon 1 VAR_020393 Q9UI42:p.Pro157Thr SP substitution exon 1 VAR_020394 Q9UI42:p.Gly303Cys SP substitution exon 1 VAR_020395 P27918:p.Val53Met SP substitution exon 1 VAR_020396 P27918:p.Pro204Leu SP substitution exon 1 VAR_020397 P27918:p.Gly250Ser SP substitution exon 1 VAR_020398 P30622:p.Asp1080Glu SP substitution exon 1 VAR_020399 Q13183:p.Pro385Ser SP substitution exon 1 VAR_020401 Q04759:p.Pro330Leu SP substitution exon 1 VAR_020402 P50443:p.Thr689Ser SP substitution exon 1 VAR_020403 O43543:p.Ala16Ser SP substitution exon 1 VAR_020404 O43543:p.Arg188His SP substitution exon 1 VAR_020405 O43542:p.Arg94His SP substitution exon 1 VAR_020406 Q92696:p.Thr420Ala SP substitution exon 1 VAR_020407 Q9UQC2:p.Pro344Leu SP substitution exon 1 VAR_020408 O00192:p.Val175Ala SP substitution exon 1 VAR_020409 Q8IX29:p.Arg75Gln SP substitution exon 1 VAR_020410 Q8TB52:p.His583Gln SP substitution exon 1 VAR_020411 P06127:p.Pro224Leu SP substitution exon 1 VAR_020412 P30281:p.Pro134Ser SP substitution exon 1 VAR_020413 P08582:p.Arg294Trp SP substitution exon 1 VAR_020415 Q8WTW3:p.Asn392Ser SP substitution exon 1 VAR_020416 Q8TDY3:p.Gly247Arg SP substitution exon 1 VAR_020417 Q92791:p.Gln186Arg SP substitution exon 1 VAR_020419 O43423:p.Arg71Lys SP substitution exon 1 VAR_020420 O43423:p.Glu204Gly SP substitution exon 1 VAR_020421 Q8NE62:p.Glu40Ala SP substitution exon 1 VAR_020422 P10244:p.Ser427Gly SP substitution exon 1 VAR_020423 Q8IVH4:p.Gln363His SP substitution exon 1 VAR_020424 O95833:p.Pro38His SP substitution exon 1 VAR_020425 Q09472:p.Ile997Val SP substitution exon 1 VAR_020426 Q9UBC7:p.Ile72Met SP substitution exon 1 VAR_020429 P12270:p.Ser960Asn SP substitution exon 1 VAR_020430 Q9UHM6:p.Thr394Ile SP substitution exon 1 VAR_020431 P28715:p.Val145Ile SP substitution exon 1 VAR_020432 P28715:p.Gln256Arg SP substitution exon 1 VAR_020433 P28715:p.Cys529Ser SP substitution exon 1 VAR_020434 P28715:p.Gln680Arg SP substitution exon 1 VAR_020438 Q9NS39:p.Ala44Thr SP substitution exon 1 VAR_020439 Q15758:p.Pro17Ala SP substitution exon 1 VAR_020440 Q13635:p.Thr1195Ser SP substitution exon 1 VAR_020441 P30042:p.Leu248Val SP substitution exon 1 VAR_020442 Q9UFN0:p.Arg100Gln SP substitution exon 1 VAR_020443 Q9HAQ2:p.Gly96Ala SP substitution exon 1 VAR_020444 Q9Y227:p.Lys354Glu SP substitution exon 1 VAR_020445 Q9BR11:p.Arg101Gln SP substitution exon 1 VAR_020446 Q8NBQ7:p.Gly102Ser SP substitution exon 1 VAR_020447 P21580:p.Ala125Val SP substitution exon 1 VAR_020448 Q15814:p.Pro169Ser SP substitution exon 1 VAR_020449 O14656:p.Asp216His SP substitution exon 1 VAR_020450 Q14191:p.Gln329Arg SP substitution exon 1 VAR_020451 Q14191:p.Leu383Phe SP substitution exon 1 VAR_020452 Q03154:p.Arg386Cys SP substitution exon 1 VAR_020453 O00182:p.Gly5Ser SP substitution exon 1 VAR_020454 P09603:p.Leu408Pro SP substitution exon 1 VAR_020455 P09603:p.Ser496Phe SP substitution exon 1 VAR_020456 P46059:p.Val122Met SP substitution exon 1 VAR_020457 P46059:p.Gly419Ala SP substitution exon 1 VAR_020458 P46059:p.Thr451Asn SP substitution exon 1 VAR_020459 P56192:p.Ala683Asp SP substitution exon 1 VAR_020460 Q9Y2C3:p.Met85Thr SP substitution exon 1 VAR_020461 Q99689:p.Asp123Glu SP substitution exon 1 VAR_020462 Q9ULW8:p.Ile52Val SP substitution exon 1 VAR_020463 Q9ULW8:p.Val171Met SP substitution exon 1 VAR_020464 P42785:p.Glu112Asp SP substitution exon 1 VAR_020465 Q96F10:p.Arg126Cys SP substitution exon 1 VAR_020466 Q9H8E8:p.Arg442Thr SP substitution exon 1 VAR_020467 O95988:p.Gly93Arg SP substitution exon 1 VAR_020468 P15924:p.Tyr1512Cys SP substitution exon 1 VAR_020469 P40692:p.Arg217Gly SP substitution exon 1 VAR_020470 P11717:p.Pro203Leu SP substitution exon 1 VAR_020471 P11717:p.Leu252Val SP substitution exon 1 VAR_020472 P11717:p.Arg529Gln SP substitution exon 1 VAR_020473 P11717:p.Gly604Ser SP substitution exon 1 VAR_020474 P11717:p.Ala724Thr SP substitution exon 1 VAR_020475 P11717:p.Gly856Ser SP substitution exon 1 VAR_020476 P11717:p.Thr1107Met SP substitution exon 1 VAR_020477 P11717:p.Thr1184Ser SP substitution exon 1 VAR_020478 O95359:p.Asn2102Ser SP substitution exon 1 VAR_020479 O95359:p.Val2197Ala SP substitution exon 1 VAR_020480 O95359:p.Leu2261His SP substitution exon 1 VAR_020481 O95359:p.Val2718Ile SP substitution exon 1 VAR_020482 O95359:p.Ala2732Thr SP substitution exon 1 VAR_020483 P41218:p.His357Tyr SP substitution exon 1 VAR_020484 Q15050:p.Arg191Leu SP substitution exon 1 VAR_020485 Q14195:p.Ala442Ser SP substitution exon 1 VAR_020486 Q9H3H1:p.Phe202Leu SP substitution exon 1 VAR_020487 O60909:p.Gln122His SP substitution exon 1 VAR_020488 P04196:p.Asp118Gly SP substitution exon 1 VAR_020489 P04196:p.His340Arg SP substitution exon 1 VAR_020491 Q86XT4:p.Leu8Pro SP substitution exon 1 VAR_020492 Q99497:p.Met26Ile SP substitution exon 1 VAR_020493 Q99497:p.Glu64Asp SP substitution exon 1 VAR_020494 Q99497:p.Arg98Gln SP substitution exon 1 VAR_020495 Q99497:p.Ala104Thr SP substitution exon 1 VAR_020496 Q99497:p.Asp149Ala SP substitution exon 1 VAR_020497 Q99497:p.Gly150Ser SP substitution exon 1 VAR_020498 Q99497:p.Leu166Pro SP substitution exon 1 VAR_020500 P33991:p.Glu460Gly SP substitution exon 1 VAR_020501 P33991:p.Leu650Met SP substitution exon 1 VAR_020502 P17181:p.Val307Ile SP substitution exon 1 VAR_020503 P17181:p.Thr359Met SP substitution exon 1 VAR_020504 P52789:p.Arg274Cys SP substitution exon 1 VAR_020505 P52789:p.Ala314Pro SP substitution exon 1 VAR_020506 P52789:p.Thr331Ile SP substitution exon 1 VAR_020507 P52789:p.Ala387Ser SP substitution exon 1 VAR_020508 P52789:p.Arg801Gln SP substitution exon 1 VAR_020509 P52789:p.Asp881Asn SP substitution exon 1 VAR_020510 P37173:p.Met36Val SP substitution exon 1 VAR_020511 O60882:p.Lys18Thr SP substitution exon 1 VAR_020512 O60882:p.Asp139Asn SP substitution exon 1 VAR_020513 O60882:p.Ile169Leu SP substitution exon 1 VAR_020514 O60882:p.Val275Ala SP substitution exon 1 VAR_020516 P25205:p.Ile590Leu SP substitution exon 1 VAR_020518 O43502:p.Ile144Thr SP substitution exon 1 VAR_020519 O43502:p.Arg249Cys SP substitution exon 1 VAR_020520 O43502:p.Thr287Ala SP substitution exon 1 VAR_020521 P48551:p.Phe8Ser SP substitution exon 1 VAR_020522 P48551:p.Phe10Val SP substitution exon 1 VAR_020523 P48551:p.Ile196Val SP substitution exon 1 VAR_020524 Q9GZV3:p.Ile89Val SP substitution exon 1 VAR_020525 P48029:p.Gly87Arg SP substitution exon 1 VAR_020526 P48029:p.Gly381Arg SP substitution exon 1 VAR_020527 P48029:p.Pro390Leu SP substitution exon 1 VAR_020530 Q96NX5:p.Val329Ile SP substitution exon 1 VAR_020531 Q8N5S9:p.Glu375Gly SP substitution exon 1 VAR_020532 Q96RR4:p.Thr85Ser SP substitution exon 1 VAR_020533 Q96RR4:p.Arg363Cys SP substitution exon 1 VAR_020534 P45452:p.Asp390Gly SP substitution exon 1 VAR_020535 P11413:p.Tyr322His SP substitution exon 1 VAR_020536 P19526:p.Asp148Tyr SP substitution exon 1 VAR_020537 P19526:p.Tyr154His SP substitution exon 1 VAR_020538 P19526:p.Tyr241His SP substitution exon 1 VAR_020539 P19526:p.Glu348Lys SP substitution exon 1 VAR_020540 P23786:p.Arg151Gln SP substitution exon 1 VAR_020541 P23786:p.Tyr210Asp SP substitution exon 1 VAR_020542 P23786:p.Arg296Gln SP substitution exon 1 VAR_020543 P23786:p.Gln550Arg SP substitution exon 1 VAR_020544 P23786:p.Gly600Arg SP substitution exon 1 VAR_020545 P23786:p.Pro604Ser SP substitution exon 1 VAR_020546 P50416:p.Arg123Cys SP substitution exon 1 VAR_020547 P50416:p.Ala275Thr SP substitution exon 1 VAR_020548 P50416:p.Cys304Trp SP substitution exon 1 VAR_020549 P50416:p.Thr314Ile SP substitution exon 1 VAR_020550 P50416:p.Arg357Trp SP substitution exon 1 VAR_020551 P50416:p.Glu360Gly SP substitution exon 1 VAR_020553 P50416:p.Ala414Val SP substitution exon 1 VAR_020554 P50416:p.Asp454Gly SP substitution exon 1 VAR_020555 P50416:p.Pro479Leu SP substitution exon 1 VAR_020556 P50416:p.Leu484Pro SP substitution exon 1 VAR_020557 P50416:p.Tyr498Cys SP substitution exon 1 VAR_020558 P50416:p.Gly709Glu SP substitution exon 1 VAR_020559 P50416:p.Gly710Glu SP substitution exon 1 VAR_020560 O75771:p.Arg24Ser SP substitution exon 1 VAR_020561 O75771:p.Arg165Gln SP substitution exon 1 VAR_020565 P07098:p.Phe224Ile SP substitution exon 1 VAR_020566 P07098:p.Pro348Thr SP substitution exon 1 VAR_020567 Q14188:p.Pro81Ser SP substitution exon 1 VAR_020576 Q00532:p.Leu66Pro SP substitution exon 1 VAR_020577 Q00532:p.Gln274Glu SP substitution exon 1 VAR_020578 Q00532:p.Leu329Val SP substitution exon 1 VAR_020579 Q00532:p.Lys341Asn SP substitution exon 1 VAR_020580 Q96FI4:p.Ser82Cys SP substitution exon 1 VAR_020581 Q96FI4:p.Gly83Asp SP substitution exon 1 VAR_020582 Q96FI4:p.Cys136Arg SP substitution exon 1 VAR_020583 Q96FI4:p.Ile182Met SP substitution exon 1 VAR_020584 Q96FI4:p.Asp252Asn SP substitution exon 1 VAR_020585 Q969S2:p.Thr70Ser SP substitution exon 1 VAR_020586 Q969S2:p.Arg103Gln SP substitution exon 1 VAR_020587 Q969S2:p.Arg103Trp SP substitution exon 1 VAR_020588 Q969S2:p.Arg257Leu SP substitution exon 1 VAR_020590 Q8TAT5:p.Pro117Arg SP substitution exon 1 VAR_020591 Q8TAT5:p.Pro443Leu SP substitution exon 1 VAR_020592 Q8TAT5:p.Gly520Arg SP substitution exon 1 VAR_020593 Q9P202:p.Ala440Thr SP substitution exon 1 VAR_020597 P29597:p.Arg4His SP substitution exon 1 VAR_020598 P29597:p.Arg197His SP substitution exon 1 VAR_020599 P29597:p.Val362Phe SP substitution exon 1 VAR_020600 P29597:p.Gly363Ser SP substitution exon 1 VAR_020601 Q8NHW6:p.Pro7Leu SP substitution exon 1 VAR_020602 P13686:p.Val148Met SP substitution exon 1 VAR_020603 P13686:p.Val200Met SP substitution exon 1 VAR_020604 Q96MT8:p.Ser651Leu SP substitution exon 1 VAR_020605 Q9Y5Y9:p.Ser509Pro SP substitution exon 1 VAR_020606 Q9Y5Y9:p.Val1073Ala SP substitution exon 1 VAR_020607 Q9Y5Y9:p.Leu1092Pro SP substitution exon 1 VAR_020608 Q9Y5Y9:p.Met1713Val SP substitution exon 1 VAR_020609 Q9UK23:p.Thr465Ile SP substitution exon 1 VAR_020610 Q05655:p.Met494Val SP substitution exon 1 VAR_020611 P31785:p.Glu109Lys SP substitution exon 1 VAR_020612 P05160:p.Ile342Thr SP substitution exon 1 VAR_020613 P05160:p.Leu529Pro SP substitution exon 1 VAR_020614 P11172:p.Ser30Gly SP substitution exon 1 VAR_020616 P08253:p.Ala447Val SP substitution exon 1 VAR_020618 P13929:p.Ser71Asn SP substitution exon 1 VAR_020619 P13929:p.Ala85Val SP substitution exon 1 VAR_020620 P13929:p.Gly156Asp SP substitution exon 1 VAR_020622 Q04671:p.Arg10Trp SP substitution exon 1 VAR_020623 Q04671:p.Pro198Leu SP substitution exon 1 VAR_020624 Q04671:p.Pro211Leu SP substitution exon 1 VAR_020625 Q04671:p.Arg290Gly SP substitution exon 1 VAR_020626 Q04671:p.Ala334Val SP substitution exon 1 VAR_020627 Q04671:p.Val350Met SP substitution exon 1 VAR_020628 Q04671:p.Ile370Thr SP substitution exon 1 VAR_020629 Q04671:p.Thr387Met SP substitution exon 1 VAR_020630 Q04671:p.Met394Ile SP substitution exon 1 VAR_020631 Q04671:p.Lys614Glu SP substitution exon 1 VAR_020632 Q04671:p.Ile617Leu SP substitution exon 1 VAR_020633 Q04671:p.Glu678Lys SP substitution exon 1 VAR_020634 Q04671:p.Trp679Cys SP substitution exon 1 VAR_020635 Q04671:p.Leu688Phe SP substitution exon 1 VAR_020636 Q04671:p.Arg720Cys SP substitution exon 1 VAR_020637 Q04671:p.Gly795Arg SP substitution exon 1 VAR_020638 Q04671:p.Gln799His SP substitution exon 1 VAR_020639 Q9UM07:p.Gly55Ser SP substitution exon 1 VAR_020640 Q9UM07:p.Val82Ala SP substitution exon 1 VAR_020641 Q9UM07:p.Gly112Ala SP substitution exon 1 VAR_020642 Q9UM07:p.Ser275Phe SP substitution exon 1 VAR_020643 P69892:p.Lys9Glu SP substitution exon 1 VAR_020644 P69892:p.Lys9Gln SP substitution exon 1 VAR_020645 P69892:p.Thr13Arg SP substitution exon 1 VAR_020646 P69892:p.Lys18Asn SP substitution exon 1 VAR_020647 P69892:p.Asn20Lys SP substitution exon 1 VAR_020648 P69892:p.Asp23Gly SP substitution exon 1 VAR_020649 P69892:p.Arg41Lys SP substitution exon 1 VAR_020650 P69892:p.Gly73Arg SP substitution exon 1 VAR_020651 P69892:p.Ile76Thr SP substitution exon 1 VAR_020652 P69892:p.Asp81Asn SP substitution exon 1 VAR_020653 P69892:p.Glu122Lys SP substitution exon 1 VAR_020654 Q01344:p.Ile129Val SP substitution exon 1 VAR_020655 Q01344:p.Val262Ala SP substitution exon 1 VAR_020657 P35251:p.Glu692Asp SP substitution exon 1 VAR_020658 P35251:p.Gln955Lys SP substitution exon 1 VAR_020659 P35251:p.Ser1146Leu SP substitution exon 1 VAR_020660 O75762:p.Arg3Cys SP substitution exon 1 VAR_020661 O75762:p.Glu179Lys SP substitution exon 1 VAR_020662 O75762:p.Lys186Asn SP substitution exon 1 VAR_020663 O75762:p.His1018Arg SP substitution exon 1 VAR_020664 Q08477:p.Val270Ile SP substitution exon 1 VAR_020665 Q08477:p.Ile271Thr SP substitution exon 1 VAR_020666 Q08334:p.Lys47Glu SP substitution exon 1 VAR_020667 Q9UHD8:p.Arg76Cys SP substitution exon 1 VAR_020668 Q9UHD8:p.Pro145Leu SP substitution exon 1 VAR_020678 P21675:p.Leu269Val SP substitution exon 1 VAR_020679 P38398:p.Glu10Lys SP substitution exon 1 VAR_020680 P38398:p.Glu23Lys SP substitution exon 1 VAR_020681 P38398:p.Arg71Lys SP substitution exon 1 VAR_020682 P38398:p.Asn656Ile SP substitution exon 1 VAR_020683 P38398:p.Asp749Tyr SP substitution exon 1 VAR_020684 P38398:p.His835Tyr SP substitution exon 1 VAR_020685 P38398:p.Tyr856His SP substitution exon 1 VAR_020686 P38398:p.Arg866Gln SP substitution exon 1 VAR_020687 P38398:p.His888Tyr SP substitution exon 1 VAR_020688 P38398:p.Glu1060Ala SP substitution exon 1 VAR_020705 P51587:p.Tyr42Cys SP substitution exon 1 VAR_020706 P51587:p.Asn60Ser SP substitution exon 1 VAR_020707 P51587:p.Gly405Arg SP substitution exon 1 VAR_020708 P51587:p.Thr431Ile SP substitution exon 1 VAR_020709 P51587:p.Arg448His SP substitution exon 1 VAR_020710 P51587:p.Glu462Gly SP substitution exon 1 VAR_020711 P51587:p.Thr598Ala SP substitution exon 1 VAR_020712 P51587:p.Leu613Arg SP substitution exon 1 VAR_020713 P51587:p.Glu1036Lys SP substitution exon 1 VAR_020714 P51587:p.Ser1106Arg SP substitution exon 1 VAR_020715 P51587:p.Ser1179Asn SP substitution exon 1 VAR_020716 P51587:p.Asn1279Ser SP substitution exon 1 VAR_020717 P51587:p.Lys1445Thr SP substitution exon 1 VAR_020718 P51587:p.Phe1524Val SP substitution exon 1 VAR_020719 P51587:p.Cys1580Tyr SP substitution exon 1 VAR_020720 P51587:p.Thr1679Ile SP substitution exon 1 VAR_020721 P51587:p.Val1804Ala SP substitution exon 1 VAR_020722 P51587:p.Glu1901Lys SP substitution exon 1 VAR_020723 P51587:p.Ile1929Val SP substitution exon 1 VAR_020724 P51587:p.Thr2031Ala SP substitution exon 1 VAR_020725 P51587:p.Ser2072Cys SP substitution exon 1 VAR_020726 P51587:p.Tyr2094Cys SP substitution exon 1 VAR_020727 P51587:p.Pro2096Leu SP substitution exon 1 VAR_020728 P51587:p.Val2118Leu SP substitution exon 1 VAR_020729 P51587:p.Lys2128Asn SP substitution exon 1 VAR_020730 P51587:p.Glu2275Gly SP substitution exon 1 VAR_020731 P51587:p.Phe2293Leu SP substitution exon 1 VAR_020732 P51587:p.Gly2353Arg SP substitution exon 1 VAR_020733 P51587:p.Arg2488Lys SP substitution exon 1 VAR_020734 P51587:p.Asn2706Ser SP substitution exon 1 VAR_020735 P51587:p.Asp2723His SP substitution exon 1 VAR_020736 P51587:p.Val2728Ile SP substitution exon 1 VAR_020737 P51587:p.Lys2729Asn SP substitution exon 1 VAR_020738 P51587:p.Gly2793Arg SP substitution exon 1 VAR_020739 P51587:p.Lys2950Asn SP substitution exon 1 VAR_020740 P51587:p.Thr3013Ile SP substitution exon 1 VAR_020741 P51587:p.Pro3063Ser SP substitution exon 1 VAR_020742 P51587:p.Gly3076Glu SP substitution exon 1 VAR_020743 P51587:p.Asn3124Ile SP substitution exon 1 VAR_020744 P51587:p.Lys3196Glu SP substitution exon 1 VAR_020745 P51587:p.Thr3374Ile SP substitution exon 1 VAR_020746 O14522:p.Phe74Ser SP substitution exon 1 VAR_020747 O14522:p.Ala209Thr SP substitution exon 1 VAR_020748 O14522:p.Lys218Thr SP substitution exon 1 VAR_020749 O14522:p.Phe248Ser SP substitution exon 1 VAR_020750 O14522:p.Tyr280His SP substitution exon 1 VAR_020751 O14522:p.Ile395Val SP substitution exon 1 VAR_020752 O14522:p.Tyr412Phe SP substitution exon 1 VAR_020753 O14522:p.Arg453Cys SP substitution exon 1 VAR_020754 O14522:p.Asn510Lys SP substitution exon 1 VAR_020755 O14522:p.Thr605Met SP substitution exon 1 VAR_020756 O14522:p.Val648Gly SP substitution exon 1 VAR_020757 O14522:p.Ala707Thr SP substitution exon 1 VAR_020758 O14522:p.Ala707Val SP substitution exon 1 VAR_020759 O14522:p.Leu708Pro SP substitution exon 1 VAR_020760 O14522:p.Arg771Ile SP substitution exon 1 VAR_020761 O14522:p.Asp905Gly SP substitution exon 1 VAR_020762 O14522:p.Gln965Lys SP substitution exon 1 VAR_020763 O14522:p.Ala1096Pro SP substitution exon 1 VAR_020764 O14522:p.Asn1106Ile SP substitution exon 1 VAR_020765 O14522:p.Arg1190Trp SP substitution exon 1 VAR_020766 O14522:p.Met1237Leu SP substitution exon 1 VAR_020767 O14522:p.Val1247Met SP substitution exon 1 VAR_020768 O14522:p.Arg1324Leu SP substitution exon 1 VAR_020769 O14522:p.Tyr1329Phe SP substitution exon 1 VAR_020770 O14522:p.Thr1346Met SP substitution exon 1 VAR_020772 Q03169:p.Gln282Glu SP substitution exon 1 VAR_020773 Q03169:p.Thr565Ile SP substitution exon 1 VAR_020774 Q03169:p.Thr580Met SP substitution exon 1 VAR_020775 P69905:p.Arg93Trp SP substitution exon 1 VAR_020776 P08294:p.Ala58Thr SP substitution exon 1 VAR_020777 P08294:p.Ala91Thr SP substitution exon 1 VAR_020778 O14678:p.Ala304Thr SP substitution exon 1 VAR_020779 Q9UNQ0:p.Val12Met SP substitution exon 1 VAR_020780 Q9UNQ0:p.Gln141Lys SP substitution exon 1 VAR_020781 Q9H222:p.Asn437Lys SP substitution exon 1 VAR_020782 Q9H222:p.Ile523Val SP substitution exon 1 VAR_020783 Q9H222:p.Cys600Tyr SP substitution exon 1 VAR_020784 Q9H222:p.Met622Val SP substitution exon 1 VAR_020785 Q9H221:p.Tyr641Phe SP substitution exon 1 VAR_020787 Q8TE23:p.Ala574Thr SP substitution exon 1 VAR_020788 Q7RTX0:p.Cys757Arg SP substitution exon 1 VAR_020789 Q9NZJ6:p.Ser272Gly SP substitution exon 1 VAR_020790 Q9NZJ6:p.Tyr329His SP substitution exon 1 VAR_020791 O95425:p.Val189Ala SP substitution exon 1 VAR_020792 O95425:p.Pro1235Ala SP substitution exon 1 VAR_020797 P12883:p.Thr124Ile SP substitution exon 1 VAR_020798 P12883:p.Tyr162Cys SP substitution exon 1 VAR_020799 P12883:p.Asn187Lys SP substitution exon 1 VAR_020800 P12883:p.Arg190Thr SP substitution exon 1 VAR_020801 P12883:p.Gln222Lys SP substitution exon 1 VAR_020802 P12883:p.Phe244Leu SP substitution exon 1 VAR_020803 P12883:p.Val320Met SP substitution exon 1 VAR_020804 P12883:p.Leu390Val SP substitution exon 1 VAR_020805 P12883:p.Val406Met SP substitution exon 1 VAR_020806 P12883:p.Glu499Lys SP substitution exon 1 VAR_020807 P12883:p.Gln595Arg SP substitution exon 1 VAR_020808 P12883:p.Leu601Val SP substitution exon 1 VAR_020809 P12883:p.Arg694Cys SP substitution exon 1 VAR_020810 P12883:p.Asn696Ser SP substitution exon 1 VAR_020811 P12883:p.Arg712Leu SP substitution exon 1 VAR_020812 P12883:p.Arg723Gly SP substitution exon 1 VAR_020813 P12883:p.Ser782Asn SP substitution exon 1 VAR_020814 P12883:p.Glu846Gln SP substitution exon 1 VAR_020815 P12883:p.Arg869Cys SP substitution exon 1 VAR_020816 P12883:p.Arg870Cys SP substitution exon 1 VAR_020817 P12883:p.Met877Lys SP substitution exon 1 VAR_020819 P12883:p.Ser1491Cys SP substitution exon 1 VAR_020820 P12883:p.Glu1555Lys SP substitution exon 1 VAR_020821 P12883:p.Ser1776Gly SP substitution exon 1 VAR_020822 P05062:p.Ile74Thr SP substitution exon 1 VAR_020824 P05062:p.Pro185Arg SP substitution exon 1 VAR_020825 P05062:p.Glu207Gln SP substitution exon 1 VAR_020826 P05062:p.Val222Phe SP substitution exon 1 VAR_020827 P05062:p.Leu229Pro SP substitution exon 1 VAR_020828 P05062:p.Arg304Gln SP substitution exon 1 VAR_020829 O75845:p.Tyr46Ser SP substitution exon 1 VAR_020830 Q09470:p.Phe184Cys SP substitution exon 1 VAR_020831 Q09470:p.Thr226Met SP substitution exon 1 VAR_020832 Q09470:p.Glu325Asp SP substitution exon 1 VAR_020833 Q09470:p.Leu329Ile SP substitution exon 1 VAR_020834 Q09470:p.Ser342Ile SP substitution exon 1 VAR_020835 Q8IVH4:p.Leu89Pro SP substitution exon 1 VAR_020836 Q8IVH4:p.Arg145Gln SP substitution exon 1 VAR_020837 Q8IVH4:p.Gly218Glu SP substitution exon 1 VAR_020838 Q8IVH4:p.Arg359Gln SP substitution exon 1 VAR_020839 Q9Y5X4:p.Gly88Val SP substitution exon 1 VAR_020840 Q9Y5X4:p.Ala256Glu SP substitution exon 1 VAR_020841 Q9Y5X4:p.Leu263Pro SP substitution exon 1 VAR_020842 Q9Y5X4:p.Leu336Pro SP substitution exon 1 VAR_020843 Q9Y5X4:p.Leu353Val SP substitution exon 1 VAR_020844 O15232:p.Phe105Ser SP substitution exon 1 VAR_020845 Q13635:p.Thr230Pro SP substitution exon 1 VAR_020847 Q13635:p.Pro1282Leu SP substitution exon 1 VAR_020854 P15735:p.Glu157Lys SP substitution exon 1 VAR_020855 P15735:p.Asp215Asn SP substitution exon 1 VAR_020856 P46020:p.Asp299Val SP substitution exon 1 VAR_020857 Q93100:p.Gln657Lys SP substitution exon 1 VAR_020858 Q96NR8:p.Thr49Met SP substitution exon 1 VAR_020859 Q96NR8:p.Ile51Asn SP substitution exon 1 VAR_020860 Q96NR8:p.Leu99Ile SP substitution exon 1 VAR_020861 Q96NR8:p.His151Asp SP substitution exon 1 VAR_020862 Q96NR8:p.His151Asn SP substitution exon 1 VAR_020863 Q96NR8:p.Ser175Pro SP substitution exon 1 VAR_020864 Q96NR8:p.Tyr226Cys SP substitution exon 1 VAR_020865 Q96NR8:p.Pro230Ala SP substitution exon 1 VAR_020866 Q9H3D4:p.Ser184Leu SP substitution exon 1 VAR_020867 Q9H3D4:p.Ala187Pro SP substitution exon 1 VAR_020868 Q9H3D4:p.Gln204Leu SP substitution exon 1 VAR_020869 Q9H3D4:p.Lys233Glu SP substitution exon 1 VAR_020870 Q9H3D4:p.Arg243Gln SP substitution exon 1 VAR_020871 Q9H3D4:p.Arg243Trp SP substitution exon 1 VAR_020872 Q9H3D4:p.Pro279His SP substitution exon 1 VAR_020873 Q9H3D4:p.Arg318His SP substitution exon 1 VAR_020874 Q9H3D4:p.Arg319Cys SP substitution exon 1 VAR_020875 Q9H3D4:p.Arg337Gln SP substitution exon 1 VAR_020876 Q9H3D4:p.Arg343Gln SP substitution exon 1 VAR_020877 Q9H3D4:p.Cys345Arg SP substitution exon 1 VAR_020878 Q9H3D4:p.Asp351Gly SP substitution exon 1 VAR_020879 Q9H3D4:p.Leu553Phe SP substitution exon 1 VAR_020880 Q9H3D4:p.Ser560Ala SP substitution exon 1 VAR_020881 Q9H3D4:p.Cys561Gly SP substitution exon 1 VAR_020884 Q6STE5:p.Pro170Ser SP substitution exon 1 VAR_020885 Q96T23:p.Ser475Pro SP substitution exon 1 VAR_020887 O00204:p.Leu51Ser SP substitution exon 1 VAR_020888 O00204:p.Pro345Leu SP substitution exon 1 VAR_020889 Q14204:p.Asp3902Asn SP substitution exon 1 VAR_020890 Q14204:p.His4029Gln SP substitution exon 1 VAR_020891 Q03167:p.Ser14Asn SP substitution exon 1 VAR_020892 Q03167:p.Trp163Leu SP substitution exon 1 VAR_020893 Q03167:p.Ala635Thr SP substitution exon 1 VAR_020894 Q03167:p.Gly765Arg SP substitution exon 1 VAR_020896 Q9BX63:p.Pro47Ala SP substitution exon 1 VAR_020897 Q9BX63:p.Arg173Cys SP substitution exon 1 VAR_020898 Q9BX63:p.Val193Ile SP substitution exon 1 VAR_020899 Q9BX63:p.Leu195Pro SP substitution exon 1 VAR_020900 Q9BX63:p.Met299Ile SP substitution exon 1 VAR_020901 Q9BX63:p.Arg419Trp SP substitution exon 1 VAR_020902 Q9BX63:p.Phe531Val SP substitution exon 1 VAR_020903 Q9BX63:p.Gln540Leu SP substitution exon 1 VAR_020904 Q9BX63:p.Cys832Tyr SP substitution exon 1 VAR_020905 Q9BX63:p.Pro919Ser SP substitution exon 1 VAR_020906 Q9BX63:p.Val935Gly SP substitution exon 1 VAR_020907 Q9BX63:p.Pro1034Leu SP substitution exon 1 VAR_020910 P00488:p.Val40Ile SP substitution exon 1 VAR_020911 P00488:p.Tyr205Phe SP substitution exon 1 VAR_020912 P07203:p.Arg5Pro SP substitution exon 1 VAR_020915 P07203:p.Ala194Thr SP substitution exon 1 VAR_020916 P18283:p.Pro126Leu SP substitution exon 1 VAR_020917 P18283:p.Arg146Cys SP substitution exon 1 VAR_020918 P22735:p.Asp102Val SP substitution exon 1 VAR_020919 P22735:p.Asn289Thr SP substitution exon 1 VAR_020920 P22735:p.Arg307Trp SP substitution exon 1 VAR_020921 Q6W2J9:p.Pro85Leu SP substitution exon 1 VAR_020924 Q9UBT7:p.Asn91Thr SP substitution exon 1 VAR_020925 Q9UBT7:p.Glu203Lys SP substitution exon 1 VAR_020926 Q9UBT7:p.Glu527Gln SP substitution exon 1 VAR_020927 Q9UBT7:p.Ile593Asn SP substitution exon 1 VAR_020928 Q9UBT7:p.Met716Arg SP substitution exon 1 VAR_020929 O60716:p.Tyr217Cys SP substitution exon 1 VAR_020930 O60716:p.Arg464Cys SP substitution exon 1 VAR_020932 P30304:p.Ser88Phe SP substitution exon 1 VAR_020936 P20585:p.Ile79Val SP substitution exon 1 VAR_020937 P35247:p.Met31Thr SP substitution exon 1 VAR_020938 P35247:p.Leu123Val SP substitution exon 1 VAR_020939 P35247:p.Thr180Ala SP substitution exon 1 VAR_020940 P35247:p.Ser290Thr SP substitution exon 1 VAR_020941 P35247:p.Glu309Lys SP substitution exon 1 VAR_020942 P25445:p.Thr305Ile SP substitution exon 1 VAR_020943 P22352:p.Phe128Leu SP substitution exon 1 VAR_020944 P31371:p.Ile94Val SP substitution exon 1 VAR_020945 Q92913:p.Lys197Gln SP substitution exon 1 VAR_020946 Q9NP95:p.Gly116Arg SP substitution exon 1 VAR_020947 Q9NP95:p.Pro175Ala SP substitution exon 1 VAR_020948 Q9NP95:p.Asp206Asn SP substitution exon 1 VAR_020949 P09238:p.Leu4Val SP substitution exon 1 VAR_020950 P09238:p.Arg53Lys SP substitution exon 1 VAR_020951 P09238:p.Gly65Arg SP substitution exon 1 VAR_020952 P09238:p.Phe226Leu SP substitution exon 1 VAR_020953 P09238:p.Gly282Glu SP substitution exon 1 VAR_020954 P09238:p.Leu440Phe SP substitution exon 1 VAR_020955 P09238:p.His475Leu SP substitution exon 1 VAR_020957 O94822:p.Leu403Ser SP substitution exon 1 VAR_020958 Q92878:p.Lys616Glu SP substitution exon 1 VAR_020959 Q92878:p.Val697Ala SP substitution exon 1 VAR_020960 Q92878:p.Tyr964His SP substitution exon 1 VAR_020961 Q92878:p.Lys973Met SP substitution exon 1 VAR_020962 Q92878:p.Arg1038Gly SP substitution exon 1 VAR_020966 Q6ZMN7:p.Gly429Ser SP substitution exon 1 VAR_020967 Q13261:p.Asn182Thr SP substitution exon 1 VAR_020968 P01133:p.Asp257His SP substitution exon 1 VAR_020969 P01133:p.Ser638Arg SP substitution exon 1 VAR_020970 P01133:p.Glu920Val SP substitution exon 1 VAR_020971 P01133:p.Asp981Glu SP substitution exon 1 VAR_020972 P01133:p.Ala1084Gly SP substitution exon 1 VAR_020973 P13716:p.Phe12Leu SP substitution exon 1 VAR_020974 P13716:p.Val153Met SP substitution exon 1 VAR_020975 P35475:p.Ala79Val SP substitution exon 1 VAR_020976 P35475:p.His82Gln SP substitution exon 1 VAR_020977 P35475:p.Met133Ile SP substitution exon 1 VAR_020978 P35475:p.Glu182Lys SP substitution exon 1 VAR_020979 P35475:p.Gly208Asp SP substitution exon 1 VAR_020980 P35475:p.Leu238Gln SP substitution exon 1 VAR_020981 P35475:p.Ser260Phe SP substitution exon 1 VAR_020982 P35475:p.Asp349Tyr SP substitution exon 1 VAR_020983 P35475:p.Asn350Ile SP substitution exon 1 VAR_020984 P35475:p.Arg363Cys SP substitution exon 1 VAR_020985 P35475:p.Ser423Arg SP substitution exon 1 VAR_020986 P35475:p.Phe602Ile SP substitution exon 1 VAR_020987 P35475:p.Arg628Pro SP substitution exon 1 VAR_020988 Q13488:p.Ala141Pro SP substitution exon 1 VAR_020990 Q13488:p.Asp517Asn SP substitution exon 1 VAR_020992 Q9HBG4:p.Val2Ala SP substitution exon 1 VAR_020993 Q9HBG4:p.Gly175Asp SP substitution exon 1 VAR_020995 Q9HBG4:p.Arg449His SP substitution exon 1 VAR_020996 Q9HBG4:p.Arg807Gln SP substitution exon 1 VAR_020997 P51798:p.Gly215Arg SP substitution exon 1 VAR_020998 P51798:p.Gly240Arg SP substitution exon 1 VAR_020999 P51798:p.Pro249Arg SP substitution exon 1 VAR_021000 P51798:p.Arg286Gln SP substitution exon 1 VAR_021001 P51798:p.Met332Val SP substitution exon 1 VAR_021002 P51798:p.Val418Met SP substitution exon 1 VAR_021003 P51798:p.Leu490Phe SP substitution exon 1 VAR_021004 P51798:p.Arg526Trp SP substitution exon 1 VAR_021005 P51798:p.Leu614Pro SP substitution exon 1 VAR_021006 P51798:p.Gly677Val SP substitution exon 1 VAR_021007 P51798:p.Ser744Phe SP substitution exon 1 VAR_021008 P51798:p.Arg767Gln SP substitution exon 1 VAR_021009 P00918:p.His94Tyr SP substitution exon 1 VAR_021010 P00918:p.Gly144Arg SP substitution exon 1 VAR_021011 P15313:p.Thr30Ile SP substitution exon 1 VAR_021012 P15313:p.Gly123Val SP substitution exon 1 VAR_021013 P15313:p.Arg157Cys SP substitution exon 1 VAR_021014 P15313:p.Glu161Lys SP substitution exon 1 VAR_021016 P56539:p.Asn33Lys SP substitution exon 1 VAR_021017 P56539:p.Val44Glu SP substitution exon 1 VAR_021018 P56539:p.Thr64Pro SP substitution exon 1 VAR_021019 P41180:p.Glu767Lys SP substitution exon 1 VAR_021020 P01732:p.Gly111Ser SP substitution exon 1 VAR_021021 Q08752:p.Arg49Cys SP substitution exon 1 VAR_021022 Q08752:p.Leu302Ile SP substitution exon 1 VAR_021023 Q08752:p.Gly335Glu SP substitution exon 1 VAR_021024 P03956:p.Ile191Val SP substitution exon 1 VAR_021027 P09237:p.Gly137Asp SP substitution exon 1 VAR_021029 P50281:p.Ala4Thr SP substitution exon 1 VAR_021030 P50281:p.Arg6Lys SP substitution exon 1 VAR_021031 P50281:p.Pro8Ser SP substitution exon 1 VAR_021032 P50281:p.Ile233Val SP substitution exon 1 VAR_021033 P50281:p.Asp273Asn SP substitution exon 1 VAR_021034 P50281:p.Arg302Trp SP substitution exon 1 VAR_021035 P50281:p.Met355Ile SP substitution exon 1 VAR_021036 Q99542:p.Arg103Cys SP substitution exon 1 VAR_021037 Q99542:p.Pro488Thr SP substitution exon 1 VAR_021038 Q99542:p.Thr491Met SP substitution exon 1 VAR_021039 Q12866:p.Arg20Ser SP substitution exon 1 VAR_021040 Q12866:p.Ser118Asn SP substitution exon 1 VAR_021041 Q12866:p.Ala282Thr SP substitution exon 1 VAR_021042 Q12866:p.Arg293His SP substitution exon 1 VAR_021043 Q12866:p.Arg466Lys SP substitution exon 1 VAR_021044 Q12866:p.Asn498Ser SP substitution exon 1 VAR_021045 Q12866:p.Ile518Val SP substitution exon 1 VAR_021046 Q12866:p.Glu540Lys SP substitution exon 1 VAR_021047 Q12866:p.Ser661Cys SP substitution exon 1 VAR_021050 Q9BY10:p.Ala366Val SP substitution exon 1 VAR_021051 Q6UWE0:p.Asn318Asp SP substitution exon 1 VAR_021052 Q9NZ43:p.Leu154Ser SP substitution exon 1 VAR_021053 P08559:p.Tyr243Asn SP substitution exon 1 VAR_021054 P08559:p.Met282Leu SP substitution exon 1 VAR_021055 P08559:p.Arg288His SP substitution exon 1 VAR_021056 P08559:p.Asp315Asn SP substitution exon 1 VAR_021059 Q9P2D1:p.Ile1028Val SP substitution exon 1 VAR_021060 Q9P2D1:p.Leu1257Arg SP substitution exon 1 VAR_021061 P25024:p.Met31Arg SP substitution exon 1 VAR_021062 P25024:p.Ser342Leu SP substitution exon 1 VAR_021063 P48507:p.Ile209Met SP substitution exon 1 VAR_021064 P26651:p.Pro37Ser SP substitution exon 1 VAR_021065 P26651:p.Ile259Phe SP substitution exon 1 VAR_021066 P26651:p.Val324Phe SP substitution exon 1 VAR_021067 P30519:p.Arg137Gln SP substitution exon 1 VAR_021068 P30519:p.Pro146Leu SP substitution exon 1 VAR_021069 Q13489:p.Lys260Arg SP substitution exon 1 VAR_021070 Q13489:p.Arg401Lys SP substitution exon 1 VAR_021071 O15392:p.Lys129Glu SP substitution exon 1 VAR_021072 P35558:p.Arg55Gln SP substitution exon 1 VAR_021073 P35558:p.Met60Thr SP substitution exon 1 VAR_021074 P35558:p.Thr138Ile SP substitution exon 1 VAR_021075 P35558:p.Val184Leu SP substitution exon 1 VAR_021076 P35558:p.Glu276Lys SP substitution exon 1 VAR_021077 P35558:p.Val368Ile SP substitution exon 1 VAR_021078 P35558:p.Pro427Ser SP substitution exon 1 VAR_021081 P17275:p.Leu230Val SP substitution exon 1 VAR_021082 Q15166:p.Glu146Lys SP substitution exon 1 VAR_021083 Q15166:p.Ala179Asp SP substitution exon 1 VAR_021084 Q9Y6Q1:p.Val277Leu SP substitution exon 1 VAR_021085 P07384:p.Thr103Ala SP substitution exon 1 VAR_021086 P07384:p.Arg433Pro SP substitution exon 1 VAR_021089 P04632:p.Met224Val SP substitution exon 1 VAR_021090 P02745:p.Glu23Lys SP substitution exon 1 VAR_021091 Q9H4B4:p.Thr61Ser SP substitution exon 1 VAR_021092 Q9H4B4:p.Leu68Phe SP substitution exon 1 VAR_021093 Q9H4B4:p.Leu283Phe SP substitution exon 1 VAR_021094 Q9H4B4:p.Arg483Cys SP substitution exon 1 VAR_021095 Q9H4B4:p.Ser498Leu SP substitution exon 1 VAR_021096 Q9H4B4:p.Ser618Pro SP substitution exon 1 VAR_021097 P35321:p.His42Gln SP substitution exon 1 VAR_021098 P35321:p.Val61Ile SP substitution exon 1 VAR_021099 P22528:p.Thr11Ile SP substitution exon 1 VAR_021101 Q00526:p.Thr226Ile SP substitution exon 1 VAR_021102 Q00526:p.Met264Thr SP substitution exon 1 VAR_021103 O15287:p.Gly294Glu SP substitution exon 1 VAR_021104 O15287:p.Pro330Ser SP substitution exon 1 VAR_021105 O15287:p.Ser378Leu SP substitution exon 1 VAR_021106 O15287:p.Lys430Glu SP substitution exon 1 VAR_021109 Q13546:p.Glu234Lys SP substitution exon 1 VAR_021110 P48506:p.Arg127Cys SP substitution exon 1 VAR_021111 P49736:p.Asp68Glu SP substitution exon 1 VAR_021112 P49736:p.Leu135Phe SP substitution exon 1 VAR_021113 P26951:p.Ala12Thr SP substitution exon 1 VAR_021114 P26951:p.Glu77Gly SP substitution exon 1 VAR_021115 P26951:p.Ser123Thr SP substitution exon 1 VAR_021123 O14757:p.Arg156Gln SP substitution exon 1 VAR_021124 O14920:p.Arg554Trp SP substitution exon 1 VAR_021125 P40939:p.Val282Asp SP substitution exon 1 VAR_021126 P40939:p.Ile305Asn SP substitution exon 1 VAR_021127 P40939:p.Leu342Pro SP substitution exon 1 VAR_021128 P55084:p.Gly59Asp SP substitution exon 1 VAR_021129 P55084:p.Arg61Cys SP substitution exon 1 VAR_021130 P55084:p.Arg117Gly SP substitution exon 1 VAR_021131 P55084:p.Leu121Pro SP substitution exon 1 VAR_021132 P55084:p.Thr133Pro SP substitution exon 1 VAR_021133 P55084:p.Asp242Gly SP substitution exon 1 VAR_021135 P55084:p.Gly280Asp SP substitution exon 1 VAR_021136 P55084:p.Pro294Leu SP substitution exon 1 VAR_021137 P55084:p.Pro294Arg SP substitution exon 1 VAR_021138 P55084:p.Gly301Ser SP substitution exon 1 VAR_021139 P11844:p.Pro148Leu SP substitution exon 1 VAR_021140 P07316:p.Ser73Ile SP substitution exon 1 VAR_021141 P07316:p.Ile111Leu SP substitution exon 1 VAR_021142 P07315:p.Thr5Pro SP substitution exon 1 VAR_021143 P07315:p.Arg48His SP substitution exon 1 VAR_021144 P07315:p.Arg169Trp SP substitution exon 1 VAR_021145 P07320:p.Pro24Thr SP substitution exon 1 VAR_021146 P07320:p.Met102Val SP substitution exon 1 VAR_021147 P16070:p.Lys417Arg SP substitution exon 1 VAR_021148 Q99959:p.Ser140Phe SP substitution exon 1 VAR_021149 Q99959:p.Ser615Phe SP substitution exon 1 VAR_021150 Q99959:p.Lys654Gln SP substitution exon 1 VAR_021151 Q99959:p.Cys796Arg SP substitution exon 1 VAR_021152 P11802:p.Asn41Ser SP substitution exon 1 VAR_021153 P48509:p.Arg178His SP substitution exon 1 VAR_021154 P16435:p.Tyr178Asp SP substitution exon 1 VAR_021155 P16435:p.Ala284Pro SP substitution exon 1 VAR_021162 Q96KB5:p.Asn107Ser SP substitution exon 1 VAR_021163 Q9NS25:p.Val74Leu SP substitution exon 1 VAR_021164 Q8TAD1:p.Val68Leu SP substitution exon 1 VAR_021165 Q6Q788:p.Ser19Trp SP substitution exon 1 VAR_021166 Q6Q788:p.Val153Met SP substitution exon 1 VAR_021167 Q6Q788:p.Gly185Cys SP substitution exon 1 VAR_021169 Q13410:p.Ala213Thr SP substitution exon 1 VAR_021170 O00481:p.Ser224Asn SP substitution exon 1 VAR_021173 Q86X52:p.Pro359Ser SP substitution exon 1 VAR_021174 Q70JA7:p.Asp764Gly SP substitution exon 1 VAR_021175 Q5XG87:p.Asn326Ser SP substitution exon 1 VAR_021177 Q8NHQ1:p.Ser135Asn SP substitution exon 1 VAR_021194 P01111:p.Gly12Cys SP substitution exon 1 VAR_021195 O95972:p.Tyr235Cys SP substitution exon 1 VAR_021196 P58012:p.Ser58Leu SP substitution exon 1 VAR_021197 P58012:p.Ala66Val SP substitution exon 1 VAR_021198 P58012:p.Glu69Lys SP substitution exon 1 VAR_021199 P58012:p.His104Arg SP substitution exon 1 VAR_021200 P58012:p.Asn105Ser SP substitution exon 1 VAR_021201 P58012:p.Ala179Gly SP substitution exon 1 VAR_021202 P58012:p.Lys193Arg SP substitution exon 1 VAR_021203 P58012:p.Tyr215Cys SP substitution exon 1 VAR_021204 P58012:p.Tyr258Asn SP substitution exon 1 VAR_021206 P02708:p.Phe278Val SP substitution exon 1 VAR_021207 P02708:p.Val294Phe SP substitution exon 1 VAR_021208 P02708:p.Phe301Leu SP substitution exon 1 VAR_021209 P02708:p.Val330Ile SP substitution exon 1 VAR_021210 Q07001:p.Glu80Lys SP substitution exon 1 VAR_021211 Q07001:p.Pro271Gln SP substitution exon 1 VAR_021212 Q07001:p.Gln288Glu SP substitution exon 1 VAR_021213 Q04844:p.Gly13Arg SP substitution exon 1 VAR_021214 Q04844:p.Ser163Leu SP substitution exon 1 VAR_021215 Q04844:p.Ala431Pro SP substitution exon 1 VAR_021216 Q13702:p.Leu14Pro SP substitution exon 1 VAR_021217 Q13702:p.Asn88Lys SP substitution exon 1 VAR_021218 P50747:p.Leu216Arg SP substitution exon 1 VAR_021219 P50747:p.Asn511Lys SP substitution exon 1 VAR_021222 O75197:p.Arg570Gln SP substitution exon 1 VAR_021223 O75197:p.Arg752Gly SP substitution exon 1 VAR_021227 Q9Y253:p.Arg111His SP substitution exon 1 VAR_021228 Q9Y253:p.Thr122Pro SP substitution exon 1 VAR_021229 Q9Y253:p.Gly209Val SP substitution exon 1 VAR_021230 Q9Y253:p.Gly263Val SP substitution exon 1 VAR_021231 Q9Y253:p.Arg334Trp SP substitution exon 1 VAR_021232 Q9Y253:p.Arg361Ser SP substitution exon 1 VAR_021233 Q9Y253:p.Thr478Met SP substitution exon 1 VAR_021234 Q9Y253:p.Lys535Glu SP substitution exon 1 VAR_021235 Q9Y253:p.Leu584Pro SP substitution exon 1 VAR_021236 Q9Y253:p.Lys589Thr SP substitution exon 1 VAR_021237 Q9Y253:p.Met595Val SP substitution exon 1 VAR_021239 Q9UNA4:p.Arg96Gly SP substitution exon 1 VAR_021240 Q9UNA4:p.Ile261Met SP substitution exon 1 VAR_021241 Q9UNA4:p.Glu276Lys SP substitution exon 1 VAR_021242 Q9UNA4:p.His474Arg SP substitution exon 1 VAR_021243 Q9UNA4:p.Phe532Ser SP substitution exon 1 VAR_021244 Q9UNA4:p.Cys560Arg SP substitution exon 1 VAR_021246 Q9UBT6:p.Thr595Ile SP substitution exon 1 VAR_021247 Q9UBT6:p.Ile612Val SP substitution exon 1 VAR_021249 Q9UBZ9:p.Val138Met SP substitution exon 1 VAR_021250 Q9UBZ9:p.Phe257Ser SP substitution exon 1 VAR_021251 Q9UBZ9:p.Asn373Ser SP substitution exon 1 VAR_021252 Q8IUH2:p.Pro96Gln SP substitution exon 1 VAR_021255 P57059:p.Ala615Val SP substitution exon 1 VAR_021256 Q14627:p.Trp111Arg SP substitution exon 1 VAR_021258 P78395:p.Trp7Arg SP substitution exon 1 VAR_021260 Q9UMR7:p.His36Leu SP substitution exon 1 VAR_021261 Q8WXI8:p.Ser32Gly SP substitution exon 1 VAR_021262 Q8IUN9:p.Cys35Arg SP substitution exon 1 VAR_021263 Q9NXR8:p.Asp20Gly SP substitution exon 1 VAR_021264 P02538:p.Asn21Ser SP substitution exon 1 VAR_021265 P04259:p.Asn21Ser SP substitution exon 1 VAR_021266 P04259:p.Asn227Ser SP substitution exon 1 VAR_021267 P04259:p.Ile365Val SP substitution exon 1 VAR_021268 P33261:p.Leu17Pro SP substitution exon 1 VAR_021269 P33261:p.Ile19Leu SP substitution exon 1 VAR_021270 P33261:p.Glu92Asp SP substitution exon 1 VAR_021271 P33261:p.Glu122Ala SP substitution exon 1 VAR_021272 P33261:p.Arg144His SP substitution exon 1 VAR_021273 P33261:p.Arg150His SP substitution exon 1 VAR_021274 P33261:p.Arg410Cys SP substitution exon 1 VAR_021275 P33261:p.Arg442Cys SP substitution exon 1 VAR_021276 Q13416:p.Arg521Gln SP substitution exon 1 VAR_021277 P49427:p.Asp227His SP substitution exon 1 VAR_021278 Q99665:p.Met13Val SP substitution exon 1 VAR_021279 Q99665:p.Arg149Gln SP substitution exon 1 VAR_021281 P42701:p.Pro3Gln SP substitution exon 1 VAR_021282 P42701:p.Pro47Ser SP substitution exon 1 VAR_021283 P42701:p.Arg156His SP substitution exon 1 VAR_021284 P42701:p.Gln214Arg SP substitution exon 1 VAR_021285 P42701:p.His339Gln SP substitution exon 1 VAR_021286 P16871:p.Thr66Ile SP substitution exon 1 VAR_021287 P16871:p.Glu113Asp SP substitution exon 1 VAR_021288 P16871:p.Ile138Val SP substitution exon 1 VAR_021289 P16871:p.Thr244Ile SP substitution exon 1 VAR_021290 P16871:p.Ile356Val SP substitution exon 1 VAR_021292 Q8IWL2:p.Val19Ala SP substitution exon 1 VAR_021293 Q8IWL1:p.Asn9Thr SP substitution exon 1 VAR_021294 Q8IWL1:p.Val50Leu SP substitution exon 1 VAR_021295 Q8IWL1:p.Ala91Pro SP substitution exon 1 VAR_021297 P12259:p.Gly15Ser SP substitution exon 1 VAR_021298 P12259:p.Thr915Ser SP substitution exon 1 VAR_021299 P12259:p.Asn969Ser SP substitution exon 1 VAR_021300 P12259:p.Arg980Leu SP substitution exon 1 VAR_021301 P12259:p.Pro1404Ser SP substitution exon 1 VAR_021302 P12259:p.Met2148Thr SP substitution exon 1 VAR_021303 Q9P0W0:p.Lys133Glu SP substitution exon 1 VAR_021304 P11717:p.Arg91His SP substitution exon 1 VAR_021305 P11717:p.Gly231Asp SP substitution exon 1 VAR_021306 P11717:p.Asp273Gly SP substitution exon 1 VAR_021307 P11717:p.Lys512Gln SP substitution exon 1 VAR_021308 P11717:p.Leu817Val SP substitution exon 1 VAR_021309 P11717:p.Val1124Ile SP substitution exon 1 VAR_021310 P11717:p.Gly1315Glu SP substitution exon 1 VAR_021311 P11717:p.Arg1335His SP substitution exon 1 VAR_021312 P11717:p.Arg1619Gly SP substitution exon 1 VAR_021313 P11717:p.Arg1832His SP substitution exon 1 VAR_021314 P11717:p.Gly1860Asp SP substitution exon 1 VAR_021315 P11717:p.Ile1908Met SP substitution exon 1 VAR_021316 P11717:p.Ala2459Val SP substitution exon 1 VAR_021317 Q03164:p.Ala30Gly SP substitution exon 1 VAR_021318 Q03164:p.Ala53Val SP substitution exon 1 VAR_021319 Q03164:p.Glu502Lys SP substitution exon 1 VAR_021320 Q03164:p.Ser2319Thr SP substitution exon 1 VAR_021321 Q03164:p.Pro2354Arg SP substitution exon 1 VAR_021322 Q03164:p.Gln2387Arg SP substitution exon 1 VAR_021323 Q03164:p.Val3714Ile SP substitution exon 1 VAR_021324 Q03164:p.Ser3773Ala SP substitution exon 1 VAR_021325 P22303:p.Arg34Gln SP substitution exon 1 VAR_021326 P22303:p.Pro135Ala SP substitution exon 1 VAR_021327 Q8N0W3:p.Val146Met SP substitution exon 1 VAR_021328 Q8N0W3:p.Ala521Thr SP substitution exon 1 VAR_021329 Q8N0W3:p.Arg571His SP substitution exon 1 VAR_021337 Q8NBP7:p.Asn425Ser SP substitution exon 1 VAR_021338 Q8NBP7:p.Ala443Thr SP substitution exon 1 VAR_021339 Q8NBP7:p.Val474Ile SP substitution exon 1 VAR_021340 Q8NBP7:p.His553Arg SP substitution exon 1 VAR_021341 Q8NBP7:p.Gln619Pro SP substitution exon 1 VAR_021343 P39900:p.Asn357Ser SP substitution exon 1 VAR_021344 P39900:p.Gly469Arg SP substitution exon 1 VAR_021345 P62324:p.Asn139Ser SP substitution exon 1 VAR_021346 P62324:p.Gln141Glu SP substitution exon 1 VAR_021347 O96020:p.Asn387Ser SP substitution exon 1 VAR_021348 P50895:p.Arg77His SP substitution exon 1 VAR_021349 P50895:p.Val196Ile SP substitution exon 1 VAR_021350 P50895:p.Met204Lys SP substitution exon 1 VAR_021351 P50895:p.Arg282His SP substitution exon 1 VAR_021352 P50895:p.Val381Ile SP substitution exon 1 VAR_021353 P50895:p.Lys451Gln SP substitution exon 1 VAR_021354 P50895:p.Thr539Ala SP substitution exon 1 VAR_021355 P50895:p.Gln581Leu SP substitution exon 1 VAR_021356 P00451:p.Met2257Val SP substitution exon 1 VAR_021357 P05230:p.Gly21Glu SP substitution exon 1 VAR_021359 O15111:p.Val268Ile SP substitution exon 1 VAR_021360 O15480:p.Arg107His SP substitution exon 1 VAR_021361 O15480:p.Ile112Thr SP substitution exon 1 VAR_021362 P02647:p.Val180Glu SP substitution exon 1 VAR_021363 Q9NZC9:p.Ala43Thr SP substitution exon 1 VAR_021364 Q9NZC9:p.Arg114His SP substitution exon 1 VAR_021365 Q9NZC9:p.Tyr206Asp SP substitution exon 1 VAR_021366 Q9NZC9:p.Ile207Phe SP substitution exon 1 VAR_021367 Q9NZC9:p.Ser315Arg SP substitution exon 1 VAR_021368 Q9NZC9:p.Glu377Gln SP substitution exon 1 VAR_021369 Q9NZC9:p.Asp424Val SP substitution exon 1 VAR_021370 Q9NZC9:p.Ala468Pro SP substitution exon 1 VAR_021371 Q9NZC9:p.Ile548Asn SP substitution exon 1 VAR_021372 Q9NZC9:p.Ser579Leu SP substitution exon 1 VAR_021373 Q9NZC9:p.Arg586Trp SP substitution exon 1 VAR_021374 Q9NZC9:p.Arg644Trp SP substitution exon 1 VAR_021375 Q9NZC9:p.Arg645Cys SP substitution exon 1 VAR_021376 Q9NZC9:p.Lys647Gln SP substitution exon 1 VAR_021377 Q9NZC9:p.Lys647Thr SP substitution exon 1 VAR_021378 Q9NZC9:p.Asp649Asn SP substitution exon 1 VAR_021379 Q9NZC9:p.Thr705Ile SP substitution exon 1 VAR_021380 Q9NZC9:p.Thr742Met SP substitution exon 1 VAR_021381 Q9NZC9:p.Arg764Gln SP substitution exon 1 VAR_021382 Q9NZC9:p.Arg820His SP substitution exon 1 VAR_021383 P38484:p.Glu147Lys SP substitution exon 1 VAR_021384 P38484:p.Lys182Glu SP substitution exon 1 VAR_021385 P51654:p.Trp296Arg SP substitution exon 1 VAR_021386 P56693:p.Ser135Thr SP substitution exon 1 VAR_021387 P25067:p.Thr502Met SP substitution exon 1 VAR_021388 O75352:p.Gly73Glu SP substitution exon 1 VAR_021389 O75352:p.Leu74Ser SP substitution exon 1 VAR_021390 O75352:p.Leu119Pro SP substitution exon 1 VAR_021391 Q86YD3:p.Gln342Arg SP substitution exon 1 VAR_021392 Q969F8:p.Leu148Ser SP substitution exon 1 VAR_021393 Q969F8:p.Cys223Arg SP substitution exon 1 VAR_021394 Q969F8:p.Arg297Leu SP substitution exon 1 VAR_021395 Q969F8:p.Leu364His SP substitution exon 1 VAR_021396 Q15726:p.Glu20Lys SP substitution exon 1 VAR_021397 Q15726:p.Gln36Arg SP substitution exon 1 VAR_021398 Q15726:p.Pro81Arg SP substitution exon 1 VAR_021399 P16083:p.Lys16Arg SP substitution exon 1 VAR_021400 P16083:p.Glu29Gly SP substitution exon 1 VAR_021401 P16083:p.Leu47Phe SP substitution exon 1 VAR_021402 P16083:p.Gly58Asp SP substitution exon 1 VAR_021403 P16083:p.Val184Ala SP substitution exon 1 VAR_021404 P17655:p.Ser68Gly SP substitution exon 1 VAR_021405 P17655:p.Lys476Arg SP substitution exon 1 VAR_021406 P17655:p.Glu521Gln SP substitution exon 1 VAR_021407 P17655:p.Lys677Gln SP substitution exon 1 VAR_021408 Q9Y3I1:p.Met115Ile SP substitution exon 1 VAR_021409 Q969V6:p.Ser648Gly SP substitution exon 1 VAR_021411 Q92765:p.Arg200Trp SP substitution exon 1 VAR_021412 Q5T4F7:p.Gly7Ala SP substitution exon 1 VAR_021413 Q7LGC8:p.Arg304Gln SP substitution exon 1 VAR_021414 Q7LGC8:p.Ile348Met SP substitution exon 1 VAR_021415 Q7LGC8:p.Arg357Gln SP substitution exon 1 VAR_021416 Q9GZS9:p.Thr318Met SP substitution exon 1 VAR_021417 Q9GZX3:p.Leu15Pro SP substitution exon 1 VAR_021418 Q9GZX3:p.Leu22Arg SP substitution exon 1 VAR_021419 Q9GZX3:p.Pro31Ser SP substitution exon 1 VAR_021420 Q9GZX3:p.His42Tyr SP substitution exon 1 VAR_021421 Q9GZX3:p.Arg50Cys SP substitution exon 1 VAR_021422 Q9GZX3:p.Ser51Leu SP substitution exon 1 VAR_021423 Q9GZX3:p.Gly52Asp SP substitution exon 1 VAR_021424 Q9GZX3:p.Ser53Leu SP substitution exon 1 VAR_021425 Q9GZX3:p.Leu59Pro SP substitution exon 1 VAR_021426 Q9GZX3:p.Asn61Thr SP substitution exon 1 VAR_021427 Q9GZX3:p.Val66Leu SP substitution exon 1 VAR_021428 Q9GZX3:p.Tyr68His SP substitution exon 1 VAR_021429 Q9GZX3:p.Met70Leu SP substitution exon 1 VAR_021430 Q9GZX3:p.Pro72Ser SP substitution exon 1 VAR_021431 Q9GZX3:p.Val76Met SP substitution exon 1 VAR_021432 Q9GZX3:p.Arg93His SP substitution exon 1 VAR_021433 Q9GZX3:p.Arg97Pro SP substitution exon 1 VAR_021434 Q9GZX3:p.Ser98Trp SP substitution exon 1 VAR_021435 Q9GZX3:p.Cys102Gly SP substitution exon 1 VAR_021436 Q9GZX3:p.Cys102Tyr SP substitution exon 1 VAR_021437 Q9GZX3:p.Met104Val SP substitution exon 1 VAR_021438 Q9GZX3:p.Phe107Ser SP substitution exon 1 VAR_021439 Q9GZX3:p.Tyr110Cys SP substitution exon 1 VAR_021440 Q9GZX3:p.Phe121Leu SP substitution exon 1 VAR_021441 Q9GZX3:p.Gln122Pro SP substitution exon 1 VAR_021442 Q9GZX3:p.Arg127Cys SP substitution exon 1 VAR_021443 Q9GZX3:p.Ala128Val SP substitution exon 1 VAR_021444 Q9GZX3:p.Ser131Pro SP substitution exon 1 VAR_021445 Q9GZX3:p.Leu152Pro SP substitution exon 1 VAR_021446 Q9GZX3:p.Arg162Gly SP substitution exon 1 VAR_021447 Q9GZX3:p.Arg166Pro SP substitution exon 1 VAR_021448 Q9GZX3:p.Lys174Arg SP substitution exon 1 VAR_021449 Q9GZX3:p.Arg177His SP substitution exon 1 VAR_021450 Q9GZX3:p.Val198Glu SP substitution exon 1 VAR_021451 Q9GZX3:p.Leu200Arg SP substitution exon 1 VAR_021452 Q9GZX3:p.Arg202Ser SP substitution exon 1 VAR_021453 Q9GZX3:p.Asp203Glu SP substitution exon 1 VAR_021454 Q9GZX3:p.Pro204Gln SP substitution exon 1 VAR_021455 Q9GZX3:p.Arg205Leu SP substitution exon 1 VAR_021456 Q9GZX3:p.Arg205Gln SP substitution exon 1 VAR_021457 Q9GZX3:p.Ala206Thr SP substitution exon 1 VAR_021458 Q9GZX3:p.Ala206Val SP substitution exon 1 VAR_021459 Q9GZX3:p.Ser210Phe SP substitution exon 1 VAR_021460 Q9GZX3:p.Arg211Gln SP substitution exon 1 VAR_021461 Q9GZX3:p.Arg211Trp SP substitution exon 1 VAR_021462 Q9GZX3:p.Ala217Thr SP substitution exon 1 VAR_021463 Q9GZX3:p.Asp221Glu SP substitution exon 1 VAR_021464 Q9GZX3:p.Asp221Tyr SP substitution exon 1 VAR_021465 Q9GZX3:p.His249Pro SP substitution exon 1 VAR_021466 Q9GZX3:p.Tyr268Cys SP substitution exon 1 VAR_021467 Q9GZX3:p.Glu274Lys SP substitution exon 1 VAR_021468 Q9GZX3:p.Leu276Pro SP substitution exon 1 VAR_021469 Q9GZX3:p.Tyr358Asp SP substitution exon 1 VAR_021470 O43529:p.Asp258Asn SP substitution exon 1 VAR_021471 Q9NRB3:p.Pro52His SP substitution exon 1 VAR_021472 Q9NRB3:p.Thr61Ser SP substitution exon 1 VAR_021473 Q9NRB3:p.Arg109Ser SP substitution exon 1 VAR_021474 Q9NRB3:p.Ala145Pro SP substitution exon 1 VAR_021477 Q8NET6:p.Ala271Val SP substitution exon 1 VAR_021478 Q8NET6:p.Arg317Gln SP substitution exon 1 VAR_021479 Q92752:p.Ile17Val SP substitution exon 1 VAR_021480 Q8NEE6:p.Ile74Met SP substitution exon 1 VAR_021481 P10071:p.Arg625Trp SP substitution exon 1 VAR_021482 P10071:p.Ala934Pro SP substitution exon 1 VAR_021483 Q9UNS1:p.Ile455Leu SP substitution exon 1 VAR_021484 Q9UNS1:p.Arg831Gln SP substitution exon 1 VAR_021485 Q9UNS1:p.Pro1018Leu SP substitution exon 1 VAR_021487 Q9NYZ4:p.Ser170Pro SP substitution exon 1 VAR_021488 Q5QGT7:p.Gln82Arg SP substitution exon 1 VAR_021489 Q9NWN3:p.Ile470Asn SP substitution exon 1 VAR_021490 Q9NWN3:p.Leu533Pro SP substitution exon 1 VAR_021491 Q7Z6J4:p.Gln32His SP substitution exon 1 VAR_021492 Q5JSP0:p.Val275Ile SP substitution exon 1 VAR_021493 Q969J5:p.Leu16Pro SP substitution exon 1 VAR_021494 Q969J5:p.Glu190Lys SP substitution exon 1 VAR_021495 P16473:p.Leu252Pro SP substitution exon 1 VAR_021496 P16473:p.Ser425Ile SP substitution exon 1 VAR_021497 P16473:p.Leu512Gln SP substitution exon 1 VAR_021498 P16473:p.Ala593Asn SP substitution exon 1 VAR_021499 P16473:p.Val597Phe SP substitution exon 1 VAR_021500 P16473:p.Pro639Ala SP substitution exon 1 VAR_021501 P16473:p.Val656Phe SP substitution exon 1 VAR_021502 P13866:p.Arg135Trp SP substitution exon 1 VAR_021503 P13866:p.Gly318Arg SP substitution exon 1 VAR_021504 P13866:p.Ala468Val SP substitution exon 1 VAR_021505 Q8NEU8:p.Ala433Val SP substitution exon 1 VAR_021506 Q6UWV6:p.Leu4Pro SP substitution exon 1 VAR_021507 P46952:p.Ile37Val SP substitution exon 1 VAR_021508 Q7Z410:p.Ser30Thr SP substitution exon 1 VAR_021509 Q7Z410:p.Ser793Asn SP substitution exon 1 VAR_021510 Q7Z410:p.Glu938Lys SP substitution exon 1 VAR_021511 Q8N6M6:p.Val179Ala SP substitution exon 1 VAR_021512 Q96RP9:p.Asn174Ser SP substitution exon 1 VAR_021514 Q9NSC7:p.Val80Ala SP substitution exon 1 VAR_021515 O14792:p.Pro22Thr SP substitution exon 1 VAR_021516 Q8TDU9:p.Leu329Ser SP substitution exon 1 VAR_021518 Q96QV1:p.Val341Ile SP substitution exon 1 VAR_021519 Q9BZZ5:p.Pro276Ser SP substitution exon 1 VAR_021520 Q9BZZ5:p.Met300Val SP substitution exon 1 VAR_021522 P48449:p.Leu642Val SP substitution exon 1 VAR_021523 Q96BY7:p.Gln1383Glu SP substitution exon 1 VAR_021524 Q8NEW7:p.Arg81Cys SP substitution exon 1 VAR_021525 Q8NEW7:p.Arg84Trp SP substitution exon 1 VAR_021526 Q8NEW7:p.Arg92Trp SP substitution exon 1 VAR_021527 Q6T4R5:p.Phe1319Leu SP substitution exon 1 VAR_021529 Q15067:p.Ile312Met SP substitution exon 1 VAR_021530 Q16891:p.Pro124Ser SP substitution exon 1 VAR_021531 Q7Z6B0:p.Met261Val SP substitution exon 1 VAR_021532 Q7Z6B0:p.Val314Met SP substitution exon 1 VAR_021533 Q6PD74:p.Ile132Leu SP substitution exon 1 VAR_021534 Q6VVX0:p.Leu99Pro SP substitution exon 1 VAR_021535 Q9BY49:p.Glu149Lys SP substitution exon 1 VAR_021536 Q9BY49:p.Phe297Leu SP substitution exon 1 VAR_021537 Q96CV9:p.His26Asp SP substitution exon 1 VAR_021538 Q96CV9:p.Glu50Lys SP substitution exon 1 VAR_021539 Q96CV9:p.Met98Lys SP substitution exon 1 VAR_021540 Q96CV9:p.Glu103Asp SP substitution exon 1 VAR_021541 Q96CV9:p.Pro201Ser SP substitution exon 1 VAR_021542 Q96CV9:p.Lys213His SP substitution exon 1 VAR_021543 Q96CV9:p.Ser216Arg SP substitution exon 1 VAR_021544 Q96CV9:p.Lys322Glu SP substitution exon 1 VAR_021545 Q96CV9:p.Thr357Pro SP substitution exon 1 VAR_021546 Q96CV9:p.His486Arg SP substitution exon 1 VAR_021548 Q9BYE9:p.Leu1164Met SP substitution exon 1 VAR_021549 Q9NWW5:p.Arg62His SP substitution exon 1 VAR_021550 Q9NWW5:p.Glu72Gln SP substitution exon 1 VAR_021551 Q9NWW5:p.Tyr221Ser SP substitution exon 1 VAR_021552 Q9NWW5:p.Met241Thr SP substitution exon 1 VAR_021554 Q9NWW5:p.Pro299Leu SP substitution exon 1 VAR_021555 Q9NZ08:p.Asp575Asn SP substitution exon 1 VAR_021556 Q9NZ08:p.Arg725Gln SP substitution exon 1 VAR_021557 Q9Y4H2:p.Gly879Ser SP substitution exon 1 VAR_021558 Q9Y4H2:p.Gly882Ala SP substitution exon 1 VAR_021559 P32320:p.Lys27Gln SP substitution exon 1 VAR_021560 P31391:p.Phe284Val SP substitution exon 1 VAR_021561 P31391:p.Phe321Ser SP substitution exon 1 VAR_021564 P17787:p.Gln397His SP substitution exon 1 VAR_021565 Q9NQ31:p.Arg23Lys SP substitution exon 1 VAR_021566 Q9UMX1:p.Pro15Leu SP substitution exon 1 VAR_021567 Q9UMX1:p.Ala340Ser SP substitution exon 1 VAR_021568 O00339:p.Lys356Glu SP substitution exon 1 VAR_021569 Q9UBF9:p.Ser55Phe SP substitution exon 1 VAR_021570 Q9UBF9:p.Thr57Ile SP substitution exon 1 VAR_021571 Q9UBF9:p.Ser60Cys SP substitution exon 1 VAR_021572 Q9UBF9:p.Ser60Phe SP substitution exon 1 VAR_021573 Q9UBF9:p.Ser95Ile SP substitution exon 1 VAR_021574 O75943:p.Val32Ile SP substitution exon 1 VAR_021575 O75943:p.Arg487Leu SP substitution exon 1 VAR_021576 O75943:p.Lys535Glu SP substitution exon 1 VAR_021577 O75943:p.Leu557Arg SP substitution exon 1 VAR_021578 Q9H300:p.Val262Leu SP substitution exon 1 VAR_021579 Q13510:p.Tyr36Cys SP substitution exon 1 VAR_021581 Q13510:p.Val97Glu SP substitution exon 1 VAR_021582 Q13510:p.Glu138Val SP substitution exon 1 VAR_021583 Q13510:p.Gly235Arg SP substitution exon 1 VAR_021584 Q13510:p.Arg254Gly SP substitution exon 1 VAR_021585 Q13510:p.Asn320Asp SP substitution exon 1 VAR_021586 Q13510:p.Pro362Arg SP substitution exon 1 VAR_021587 Q13510:p.Val369Ile SP substitution exon 1 VAR_021588 Q9H2M9:p.Thr863Ala SP substitution exon 1 VAR_021590 Q6UVJ0:p.Ala259Val SP substitution exon 1 VAR_021591 O95813:p.Arg19Trp SP substitution exon 1 VAR_021592 O95813:p.Ala65Gly SP substitution exon 1 VAR_021593 O95813:p.Val179Ile SP substitution exon 1 VAR_021594 Q9BYX4:p.His843Arg SP substitution exon 1 VAR_021595 Q9BYX4:p.Ala946Thr SP substitution exon 1 VAR_021596 Q6KC79:p.Asn674Ser SP substitution exon 1 VAR_021597 Q6KC79:p.Ile1206Val SP substitution exon 1 VAR_021598 Q6KC79:p.Ala1246Gly SP substitution exon 1 VAR_021599 Q6KC79:p.Leu1312Pro SP substitution exon 1 VAR_021600 Q6KC79:p.Arg1789Leu SP substitution exon 1 VAR_021601 Q6KC79:p.Asp1803Val SP substitution exon 1 VAR_021602 Q6KC79:p.Arg1856Thr SP substitution exon 1 VAR_021603 Q6KC79:p.Arg2298Cys SP substitution exon 1 VAR_021604 Q6KC79:p.Arg2298His SP substitution exon 1 VAR_021605 Q6KC79:p.Gly2312Arg SP substitution exon 1 VAR_021606 Q6KC79:p.Gly2381Ala SP substitution exon 1 VAR_021607 Q6KC79:p.Ala2390Thr SP substitution exon 1 VAR_021608 Q6KC79:p.Tyr2440His SP substitution exon 1 VAR_021609 P25189:p.Asp118Asn SP substitution exon 1 VAR_021610 P25189:p.Lys236Glu SP substitution exon 1 VAR_021611 P08034:p.Val136Ala SP substitution exon 1 VAR_021612 P08034:p.Cys168Arg SP substitution exon 1 VAR_021613 P07196:p.Leu336Pro SP substitution exon 1 VAR_021614 P07196:p.Glu396Lys SP substitution exon 1 VAR_021615 P10746:p.Val3Phe SP substitution exon 1 VAR_021616 P10746:p.Ser47Pro SP substitution exon 1 VAR_021617 P10746:p.Ala69Thr SP substitution exon 1 VAR_021618 P10746:p.Ile129Thr SP substitution exon 1 VAR_021619 P10746:p.Gly188Trp SP substitution exon 1 VAR_021621 P10746:p.Ile219Ser SP substitution exon 1 VAR_021622 P07202:p.Ala53Pro SP substitution exon 1 VAR_021623 P07202:p.Asp240Asn SP substitution exon 1 VAR_021624 P07202:p.Asn307Thr SP substitution exon 1 VAR_021625 P07202:p.Ala326Thr SP substitution exon 1 VAR_021626 P07202:p.Val433Met SP substitution exon 1 VAR_021627 P07202:p.Leu458Pro SP substitution exon 1 VAR_021628 P07202:p.Arg491His SP substitution exon 1 VAR_021629 P07202:p.Gly493Ser SP substitution exon 1 VAR_021630 P07202:p.Pro499Leu SP substitution exon 1 VAR_021631 P07202:p.Trp527Cys SP substitution exon 1 VAR_021632 P07202:p.Gln660Glu SP substitution exon 1 VAR_021633 P07202:p.Arg665Trp SP substitution exon 1 VAR_021634 P07202:p.Arg693Trp SP substitution exon 1 VAR_021635 P07202:p.Gly771Arg SP substitution exon 1 VAR_021636 P07202:p.Asp796Tyr SP substitution exon 1 VAR_021637 P07202:p.Cys808Arg SP substitution exon 1 VAR_021638 O43511:p.Arg24Gly SP substitution exon 1 VAR_021639 O43511:p.Ser28Arg SP substitution exon 1 VAR_021640 O43511:p.Glu29Gln SP substitution exon 1 VAR_021641 O43511:p.Tyr78Cys SP substitution exon 1 VAR_021642 O43511:p.Ser90Leu SP substitution exon 1 VAR_021643 O43511:p.Gly102Arg SP substitution exon 1 VAR_021644 O43511:p.Ala104Val SP substitution exon 1 VAR_021645 O43511:p.Tyr105Cys SP substitution exon 1 VAR_021646 O43511:p.Ala106Asp SP substitution exon 1 VAR_021647 O43511:p.Leu117Phe SP substitution exon 1 VAR_021648 O43511:p.Thr132Ile SP substitution exon 1 VAR_021649 O43511:p.Ser133Thr SP substitution exon 1 VAR_021650 O43511:p.Ser137Pro SP substitution exon 1 VAR_021651 O43511:p.Val138Phe SP substitution exon 1 VAR_021652 O43511:p.Gly139Ala SP substitution exon 1 VAR_021653 O43511:p.Val239Asp SP substitution exon 1 VAR_021654 O43511:p.Ser252Pro SP substitution exon 1 VAR_021655 O43511:p.Asp271His SP substitution exon 1 VAR_021656 O43511:p.Phe335Leu SP substitution exon 1 VAR_021657 O43511:p.Ser391Asn SP substitution exon 1 VAR_021658 O43511:p.Asn392Tyr SP substitution exon 1 VAR_021659 O43511:p.Arg409His SP substitution exon 1 VAR_021660 O43511:p.Arg409Pro SP substitution exon 1 VAR_021661 O43511:p.Thr410Met SP substitution exon 1 VAR_021662 O43511:p.Ala411Pro SP substitution exon 1 VAR_021663 O43511:p.Gln421Arg SP substitution exon 1 VAR_021665 O43511:p.Gln446Arg SP substitution exon 1 VAR_021666 O43511:p.Ile455Phe SP substitution exon 1 VAR_021667 O43511:p.Asn457Lys SP substitution exon 1 VAR_021668 O43511:p.Val480Asp SP substitution exon 1 VAR_021669 O43511:p.Ile490Leu SP substitution exon 1 VAR_021670 O43511:p.Tyr530His SP substitution exon 1 VAR_021671 O43511:p.Ser552Ile SP substitution exon 1 VAR_021672 O43511:p.Tyr556Cys SP substitution exon 1 VAR_021673 O43511:p.Tyr556His SP substitution exon 1 VAR_021674 O43511:p.Cys565Tyr SP substitution exon 1 VAR_021675 O43511:p.Leu597Ser SP substitution exon 1 VAR_021676 O43511:p.Val653Ala SP substitution exon 1 VAR_021677 O43511:p.Gly672Glu SP substitution exon 1 VAR_021678 O43511:p.Leu676Gln SP substitution exon 1 VAR_021679 O43511:p.Phe683Ser SP substitution exon 1 VAR_021680 O43511:p.Ser694Pro SP substitution exon 1 VAR_021681 O43511:p.Asp724Asn SP substitution exon 1 VAR_021683 P14679:p.Cys36Tyr SP substitution exon 1 VAR_021684 P14679:p.Ser44Gly SP substitution exon 1 VAR_021685 P14679:p.Ser44Arg SP substitution exon 1 VAR_021686 P14679:p.Gly47Val SP substitution exon 1 VAR_021687 P14679:p.Gln68His SP substitution exon 1 VAR_021688 P14679:p.Ser79Leu SP substitution exon 1 VAR_021689 P14679:p.Gly109Arg SP substitution exon 1 VAR_021690 P14679:p.Thr155Ser SP substitution exon 1 VAR_021691 P14679:p.Val177Phe SP substitution exon 1 VAR_021692 P14679:p.Met179Leu SP substitution exon 1 VAR_021693 P14679:p.His180Asn SP substitution exon 1 VAR_021694 P14679:p.Asp199Asn SP substitution exon 1 VAR_021695 P14679:p.Ala201Ser SP substitution exon 1 VAR_021696 P14679:p.Pro205Thr SP substitution exon 1 VAR_021697 P14679:p.Arg217Ser SP substitution exon 1 VAR_021699 P14679:p.Trp236Leu SP substitution exon 1 VAR_021700 P14679:p.Trp236Ser SP substitution exon 1 VAR_021701 P14679:p.Arg239Trp SP substitution exon 1 VAR_021702 P14679:p.Asp240Val SP substitution exon 1 VAR_021703 P14679:p.Lys243Thr SP substitution exon 1 VAR_021704 P14679:p.His256Tyr SP substitution exon 1 VAR_021705 P14679:p.Trp272Cys SP substitution exon 1 VAR_021706 P14679:p.Glu294Gly SP substitution exon 1 VAR_021707 P14679:p.Val318Glu SP substitution exon 1 VAR_021708 P14679:p.Ser329Pro SP substitution exon 1 VAR_021709 P14679:p.Met332Thr SP substitution exon 1 VAR_021710 P14679:p.Glu345Gly SP substitution exon 1 VAR_021711 P14679:p.Gln378Lys SP substitution exon 1 VAR_021712 P14679:p.Ser395Arg SP substitution exon 1 VAR_021713 P14679:p.Glu398Ala SP substitution exon 1 VAR_021714 P14679:p.Glu398Val SP substitution exon 1 VAR_021715 P14679:p.Arg402Leu SP substitution exon 1 VAR_021716 P14679:p.His404Asn SP substitution exon 1 VAR_021717 P14679:p.Arg405Leu SP substitution exon 1 VAR_021718 P14679:p.Gln408His SP substitution exon 1 VAR_021719 P14679:p.Glu409Asp SP substitution exon 1 VAR_021720 P14679:p.Ala416Ser SP substitution exon 1 VAR_021721 P14679:p.Pro417His SP substitution exon 1 VAR_021722 P14679:p.Ser424Phe SP substitution exon 1 VAR_021723 P14679:p.Met426Lys SP substitution exon 1 VAR_021724 P14679:p.Val427Gly SP substitution exon 1 VAR_021725 P14679:p.Arg434Ile SP substitution exon 1 VAR_021726 P14679:p.Asn435Asp SP substitution exon 1 VAR_021727 P14679:p.Phe439Val SP substitution exon 1 VAR_021728 P14679:p.Asp444Gly SP substitution exon 1 VAR_021730 P21359:p.Ser82Phe SP substitution exon 1 VAR_021731 P21359:p.Ile157Asn SP substitution exon 1 VAR_021732 P21359:p.Leu216Pro SP substitution exon 1 VAR_021733 P21359:p.Leu357Pro SP substitution exon 1 VAR_021734 P21359:p.Tyr491Cys SP substitution exon 1 VAR_021735 P21359:p.Leu549Pro SP substitution exon 1 VAR_021736 P21359:p.Leu578Arg SP substitution exon 1 VAR_021737 P21359:p.Ile581Thr SP substitution exon 1 VAR_021738 P21359:p.Lys583Arg SP substitution exon 1 VAR_021739 P21359:p.Ser665Phe SP substitution exon 1 VAR_021740 P21359:p.Leu695Pro SP substitution exon 1 VAR_021741 P21359:p.Leu763Pro SP substitution exon 1 VAR_021742 P21359:p.Arg765His SP substitution exon 1 VAR_021743 P21359:p.Trp777Ser SP substitution exon 1 VAR_021744 P21359:p.Thr780Lys SP substitution exon 1 VAR_021745 P21359:p.His781Pro SP substitution exon 1 VAR_021746 P21359:p.Trp784Cys SP substitution exon 1 VAR_021747 P21359:p.Trp784Arg SP substitution exon 1 VAR_021748 P21359:p.Leu847Pro SP substitution exon 1 VAR_021749 P21359:p.Gly848Glu SP substitution exon 1 VAR_021750 P21359:p.Leu920Pro SP substitution exon 1 VAR_021751 P21359:p.Met968Arg SP substitution exon 1 VAR_021752 P21359:p.Leu1147Pro SP substitution exon 1 VAR_021753 P21359:p.Asn1156Ser SP substitution exon 1 VAR_021754 P21359:p.Phe1193Cys SP substitution exon 1 VAR_021755 P21359:p.Arg1204Gly SP substitution exon 1 VAR_021756 P21359:p.Arg1250Pro SP substitution exon 1 VAR_021757 P21359:p.Lys1444Asn SP substitution exon 1 VAR_021758 P21359:p.Lys1444Arg SP substitution exon 1 VAR_021759 P21359:p.Ile1605Val SP substitution exon 1 VAR_021760 P21359:p.Ala1785Ser SP substitution exon 1 VAR_021762 P21359:p.Gly2001Arg SP substitution exon 1 VAR_021763 P21359:p.Asp2012Asn SP substitution exon 1 VAR_021764 P21359:p.Pro2221Ala SP substitution exon 1 VAR_021765 P21359:p.Glu2357Lys SP substitution exon 1 VAR_021766 P21359:p.Thr2507Ile SP substitution exon 1 VAR_021767 P09417:p.Gly17Arg SP substitution exon 1 VAR_021768 P09417:p.Gly18Asp SP substitution exon 1 VAR_021769 P09417:p.Gln66Arg SP substitution exon 1 VAR_021770 P09417:p.Gly149Arg SP substitution exon 1 VAR_021771 Q9Y223:p.Pro27Ser SP substitution exon 1 VAR_021772 Q9Y223:p.His132Gln SP substitution exon 1 VAR_021773 Q9Y223:p.Arg162Cys SP substitution exon 1 VAR_021774 Q9Y223:p.Met171Val SP substitution exon 1 VAR_021775 Q9Y223:p.Asp176Val SP substitution exon 1 VAR_021776 Q9Y223:p.Arg177Cys SP substitution exon 1 VAR_021777 Q9Y223:p.Gly206Ser SP substitution exon 1 VAR_021778 Q9Y223:p.Val216Ala SP substitution exon 1 VAR_021779 Q9Y223:p.Arg306Gln SP substitution exon 1 VAR_021780 Q9Y223:p.Val331Ala SP substitution exon 1 VAR_021781 Q9Y223:p.Ile472Thr SP substitution exon 1 VAR_021782 Q9Y223:p.Asn519Ser SP substitution exon 1 VAR_021783 Q9Y223:p.Ala600Thr SP substitution exon 1 VAR_021784 Q9Y223:p.Ala630Thr SP substitution exon 1 VAR_021785 P51814:p.Pro153Leu SP substitution exon 1 VAR_021786 P51814:p.Ile167Arg SP substitution exon 1 VAR_021787 P51814:p.Asp357Glu SP substitution exon 1 VAR_021788 Q9Y606:p.Arg144Trp SP substitution exon 1 VAR_021789 Q12872:p.Leu421Pro SP substitution exon 1 VAR_021790 P35520:p.His65Arg SP substitution exon 1 VAR_021791 P35520:p.Leu101Pro SP substitution exon 1 VAR_021792 P35520:p.Cys109Arg SP substitution exon 1 VAR_021793 P35520:p.Ile143Met SP substitution exon 1 VAR_021794 P35520:p.Asn228Lys SP substitution exon 1 VAR_021795 P35520:p.Thr262Arg SP substitution exon 1 VAR_021796 P35520:p.Cys275Tyr SP substitution exon 1 VAR_021797 P35520:p.Leu338Pro SP substitution exon 1 VAR_021798 P35520:p.Gly347Ser SP substitution exon 1 VAR_021799 P35520:p.Ser349Asn SP substitution exon 1 VAR_021800 P35520:p.Ala355Pro SP substitution exon 1 VAR_021801 P35520:p.Arg379Gln SP substitution exon 1 VAR_021802 P35520:p.Pro422Leu SP substitution exon 1 VAR_021806 O75197:p.Gln89Arg SP substitution exon 1 VAR_021807 O75197:p.Asp111Tyr SP substitution exon 1 VAR_021808 O75197:p.Gly171Arg SP substitution exon 1 VAR_021809 O75197:p.Gly171Val SP substitution exon 1 VAR_021810 O75197:p.Ala214Thr SP substitution exon 1 VAR_021811 O75197:p.Ala214Val SP substitution exon 1 VAR_021812 O75197:p.Ala242Thr SP substitution exon 1 VAR_021813 O75197:p.Thr253Ile SP substitution exon 1 VAR_021814 O75197:p.Arg494Gln SP substitution exon 1 VAR_021815 O75197:p.Arg570Trp SP substitution exon 1 VAR_021816 O75197:p.Val667Met SP substitution exon 1 VAR_021818 O43772:p.Arg133Trp SP substitution exon 1 VAR_021819 O43772:p.Asp231His SP substitution exon 1 VAR_021820 O43772:p.Gln238Arg SP substitution exon 1 VAR_021821 Q9BQB6:p.Val29Leu SP substitution exon 1 VAR_021822 Q9BQB6:p.Val45Ala SP substitution exon 1 VAR_021823 Q9BQB6:p.Arg58Gly SP substitution exon 1 VAR_021824 Q9BQB6:p.Arg98Trp SP substitution exon 1 VAR_021825 Q9BQB6:p.Leu128Arg SP substitution exon 1 VAR_021826 P38435:p.Arg485Pro SP substitution exon 1 VAR_021827 Q8NB49:p.Cys114Trp SP substitution exon 1 VAR_021828 O95239:p.Leu422Trp SP substitution exon 1 VAR_021829 Q9Y458:p.Leu214Pro SP substitution exon 1 VAR_021830 Q9Y458:p.Asn264Tyr SP substitution exon 1 VAR_021831 Q9Y458:p.Met121Val SP substitution exon 1 VAR_021832 Q9Y458:p.Pro183Leu SP substitution exon 1 VAR_021833 Q9Y458:p.Glu187Lys SP substitution exon 1 VAR_021834 Q676U5:p.Thr300Ala SP substitution exon 1 VAR_021835 Q7Z3C6:p.Ser592Gly SP substitution exon 1 VAR_021837 P35568:p.Asp1137Asn SP substitution exon 1 VAR_021838 P46013:p.Thr1247Ile SP substitution exon 1 VAR_021839 P29536:p.Thr295Met SP substitution exon 1 VAR_021840 Q9H8J5:p.Val55Ile SP substitution exon 1 VAR_021841 Q9H8J5:p.Asn375Tyr SP substitution exon 1 VAR_021842 Q9P0K8:p.Pro310Ser SP substitution exon 1 VAR_021843 O15353:p.Arg411Trp SP substitution exon 1 VAR_021844 O43638:p.Pro292Ala SP substitution exon 1 VAR_021845 P20742:p.Val691Met SP substitution exon 1 VAR_021846 Q16819:p.Met634Val SP substitution exon 1 VAR_021847 Q9BZ11:p.Met764Thr SP substitution exon 1 VAR_021849 Q9UNA0:p.Arg614His SP substitution exon 1 VAR_021850 Q9NY33:p.Arg678His SP substitution exon 1 VAR_021851 P31431:p.Phe12Leu SP substitution exon 1 VAR_021852 Q9NYW3:p.Thr263Ser SP substitution exon 1 VAR_021853 Q9NYV9:p.Asn259Ser SP substitution exon 1 VAR_021854 Q92523:p.Gly320Asp SP substitution exon 1 VAR_021855 P17301:p.Asn927Ser SP substitution exon 1 VAR_021856 P54219:p.Thr4Pro SP substitution exon 1 VAR_021857 Q14511:p.Thr577Met SP substitution exon 1 VAR_021858 Q9BV73:p.Arg1441Gln SP substitution exon 1 VAR_021859 Q02833:p.Pro89Ala SP substitution exon 1 VAR_021860 Q02833:p.Arg156Gln SP substitution exon 1 VAR_021861 P23975:p.Ile549Thr SP substitution exon 1 VAR_021862 Q9NP91:p.Ala9Gly SP substitution exon 1 VAR_021864 Q15418:p.Lys335Thr SP substitution exon 1 VAR_021865 Q9P286:p.Ser511Asn SP substitution exon 1 VAR_021866 Q8NEV4:p.Asp204Asn SP substitution exon 1 VAR_021867 Q8NEV4:p.Ser956Asn SP substitution exon 1 VAR_021868 P12830:p.Leu630Val SP substitution exon 1 VAR_021869 P12830:p.Cys695Arg SP substitution exon 1 VAR_021870 O75309:p.Leu191Phe SP substitution exon 1 VAR_021871 O75309:p.His257Tyr SP substitution exon 1 VAR_021872 Q9Y5I3:p.Asn449His SP substitution exon 1 VAR_021873 Q9Y5I3:p.Tyr732Cys SP substitution exon 1 VAR_021874 Q9Y5H8:p.Ile318Val SP substitution exon 1 VAR_021875 Q9Y5H8:p.Cys759Tyr SP substitution exon 1 VAR_021876 Q9Y5H6:p.Ser78Asn SP substitution exon 1 VAR_021877 Q9Y5H6:p.Asn403Thr SP substitution exon 1 VAR_021878 Q9Y5E5:p.Ala421Thr SP substitution exon 1 VAR_021879 Q9Y5E3:p.Val231Ile SP substitution exon 1 VAR_021880 Q9UN66:p.Lys305Glu SP substitution exon 1 VAR_021881 Q9Y5F2:p.Gln4Arg SP substitution exon 1 VAR_021882 Q9Y5H4:p.Val152Ile SP substitution exon 1 VAR_021883 Q9Y5F9:p.Pro684Ser SP substitution exon 1 VAR_021884 Q9Y5F9:p.Ala722Thr SP substitution exon 1 VAR_021885 Q07954:p.Asn166Asp SP substitution exon 1 VAR_021886 Q9C000:p.Arg404Gln SP substitution exon 1 VAR_021887 O76041:p.Ala219Asp SP substitution exon 1 VAR_021888 P20929:p.Gly5934Glu SP substitution exon 1 VAR_021889 Q96JP5:p.Ser207Gly SP substitution exon 1 VAR_021891 Q9NZL3:p.Lys640Glu SP substitution exon 1 VAR_021892 Q9HBT8:p.Tyr90His SP substitution exon 1 VAR_021893 Q9Y2H8:p.Cys89Arg SP substitution exon 1 VAR_021894 O95625:p.Gly44Ser SP substitution exon 1 VAR_021895 Q9GZV8:p.Lys244Glu SP substitution exon 1 VAR_021896 Q9NZV7:p.Ala110Thr SP substitution exon 1 VAR_021897 P09681:p.Ser103Gly SP substitution exon 1 VAR_021898 P49642:p.Asp5Ala SP substitution exon 1 VAR_021901 Q08378:p.Pro264Leu SP substitution exon 1 VAR_021902 Q96CN9:p.Arg86Trp SP substitution exon 1 VAR_021903 P13385:p.Tyr43Asp SP substitution exon 1 VAR_021904 P14543:p.Gln669Arg SP substitution exon 1 VAR_021905 O75094:p.Arg395Gln SP substitution exon 1 VAR_021906 Q92752:p.Ala128Ser SP substitution exon 1 VAR_021907 Q92752:p.Gly293Ser SP substitution exon 1 VAR_021909 P53370:p.Arg209Gln SP substitution exon 1 VAR_021910 Q8IUA0:p.Met96Thr SP substitution exon 1 VAR_021911 Q8NEX5:p.Asn27Thr SP substitution exon 1 VAR_021913 P38398:p.Ile925Leu SP substitution exon 1 VAR_021915 Q15274:p.Ala158Val SP substitution exon 1 VAR_021916 P42081:p.Ser170Asn SP substitution exon 1 VAR_021918 Q02246:p.Ala145Thr SP substitution exon 1 VAR_021919 Q02246:p.Arg657Trp SP substitution exon 1 VAR_021920 P13598:p.Arg256Gln SP substitution exon 1 VAR_021921 O75325:p.Pro7Leu SP substitution exon 1 VAR_021922 O75325:p.Leu518Val SP substitution exon 1 VAR_021923 Q00872:p.His481Gln SP substitution exon 1 VAR_021924 Q13291:p.Phe11Leu SP substitution exon 1 VAR_021925 Q13291:p.Pro333Thr SP substitution exon 1 VAR_021926 Q9BZZ2:p.Ala974Val SP substitution exon 1 VAR_021927 Q9BZZ2:p.Ser1335Tyr SP substitution exon 1 VAR_021928 P40200:p.Ala142Pro SP substitution exon 1 VAR_021930 O15146:p.Met413Ile SP substitution exon 1 VAR_021931 P23327:p.Ser43Asn SP substitution exon 1 VAR_021933 O94778:p.Ala260Pro SP substitution exon 1 VAR_021934 Q8TE82:p.Arg785Cys SP substitution exon 1 VAR_021935 Q9NR81:p.Lys13Arg SP substitution exon 1 VAR_021936 Q9NR81:p.Leu335Val SP substitution exon 1 VAR_021937 Q9NZM3:p.Ala1534Thr SP substitution exon 1 VAR_021939 P40313:p.His173Arg SP substitution exon 1 VAR_021940 P98073:p.Lys77Arg SP substitution exon 1 VAR_021941 P07288:p.Glu32Lys SP substitution exon 1 VAR_021942 P07288:p.Leu132Ile SP substitution exon 1 VAR_021943 Q9UBX7:p.Gly49Glu SP substitution exon 1 VAR_021944 Q8TDX9:p.Glu2410Lys SP substitution exon 1 VAR_021945 Q9H1Q7:p.Gln22His SP substitution exon 1 VAR_021946 Q9BQN1:p.Arg621Gln SP substitution exon 1 VAR_021947 O95447:p.Gly17Ser SP substitution exon 1 VAR_021948 Q9NVD3:p.Ile387Val SP substitution exon 1 VAR_021949 Q9NSI2:p.Val212Leu SP substitution exon 1 VAR_021951 Q9NWM3:p.Pro205Ser SP substitution exon 1 VAR_021952 Q9Y3P4:p.Thr86Met SP substitution exon 1 VAR_021953 P58499:p.Val14Met SP substitution exon 1 VAR_021955 Q9UBL6:p.Phe77Leu SP substitution exon 1 VAR_021956 Q9UBL6:p.Pro633Leu SP substitution exon 1 VAR_021958 P13611:p.Ser300Leu SP substitution exon 1 VAR_021959 P13611:p.Lys1516Arg SP substitution exon 1 VAR_021962 Q9H4I8:p.Ser46Asn SP substitution exon 1 VAR_021963 Q16281:p.Glu198Lys SP substitution exon 1 VAR_021964 Q10588:p.Arg125His SP substitution exon 1 VAR_021965 Q10588:p.Arg145Gln SP substitution exon 1 VAR_021966 Q9UBU2:p.Arg146Gln SP substitution exon 1 VAR_021967 Q9UK85:p.Met109Arg SP substitution exon 1 VAR_021969 Q96KR7:p.Pro154Leu SP substitution exon 1 VAR_021971 P57678:p.Arg684Gln SP substitution exon 1 VAR_021973 Q9NYZ3:p.Ser470Leu SP substitution exon 1 VAR_021974 P17936:p.His158Pro SP substitution exon 1 VAR_021975 P32881:p.Glu137Lys SP substitution exon 1 VAR_021976 O15455:p.Leu412Phe SP substitution exon 1 VAR_021977 O00206:p.Thr175Ala SP substitution exon 1 VAR_021978 Q99467:p.Asn53Lys SP substitution exon 1 VAR_021979 Q99467:p.Ser99Arg SP substitution exon 1 VAR_021980 O00292:p.Ser92Leu SP substitution exon 1 VAR_021981 O00292:p.Pro286Leu SP substitution exon 1 VAR_021982 O15178:p.Gly177Asp SP substitution exon 1 VAR_021983 P57082:p.Ala314Val SP substitution exon 1 VAR_021984 O75333:p.Lys101Thr SP substitution exon 1 VAR_021985 P19622:p.Leu121Phe SP substitution exon 1 VAR_021986 O00338:p.Tyr128His SP substitution exon 1 VAR_021987 O00338:p.Ser255Ala SP substitution exon 1 VAR_021988 O00204:p.Val240Ile SP substitution exon 1 VAR_021989 Q96RP7:p.Arg353Gln SP substitution exon 1 VAR_021990 Q96NY9:p.Leu189Phe SP substitution exon 1 VAR_021991 Q13405:p.Thr9Ala SP substitution exon 1 VAR_021992 O94851:p.Ile220Val SP substitution exon 1 VAR_021993 Q9UGP4:p.Gly415Arg SP substitution exon 1 VAR_021994 P14784:p.Ser83Phe SP substitution exon 1 VAR_021996 P42702:p.Ile633Met SP substitution exon 1 VAR_021997 Q9NY91:p.Ala46Thr SP substitution exon 1 VAR_021998 Q9H8X9:p.Arg372His SP substitution exon 1 VAR_022000 O00566:p.Leu425Met SP substitution exon 1 VAR_022001 O43868:p.Leu163Trp SP substitution exon 1 VAR_022002 P04278:p.Arg22His SP substitution exon 1 VAR_022003 Q9Y2Q0:p.Thr673Met SP substitution exon 1 VAR_022004 O60312:p.Thr532Met SP substitution exon 1 VAR_022005 O60312:p.Ala784Thr SP substitution exon 1 VAR_022006 O60312:p.Trp1172Cys SP substitution exon 1 VAR_022007 O60312:p.Ala1179Thr SP substitution exon 1 VAR_022008 O60312:p.Ile1188Val SP substitution exon 1 VAR_022009 O60312:p.Arg1298Ser SP substitution exon 1 VAR_022011 Q9ULK0:p.Val529Ile SP substitution exon 1 VAR_022015 Q92932:p.Val343Met SP substitution exon 1 VAR_022016 Q16555:p.Ala118Thr SP substitution exon 1 VAR_022017 Q13753:p.Asp247Glu SP substitution exon 1 VAR_022018 Q9BZW2:p.Asn174Ser SP substitution exon 1 VAR_022019 Q04671:p.Pro241Arg SP substitution exon 1 VAR_022020 Q92563:p.Gly353Ser SP substitution exon 1 VAR_022021 Q9NQT6:p.Ala24Ser SP substitution exon 1 VAR_022022 O14862:p.Glu32Lys SP substitution exon 1 VAR_022023 P10643:p.Lys420Gln SP substitution exon 1 VAR_022024 P02748:p.Arg5Trp SP substitution exon 1 VAR_022026 O95834:p.Arg357His SP substitution exon 1 VAR_022027 Q9Y297:p.Ala543Ser SP substitution exon 1 VAR_022028 P50851:p.Ser2809Leu SP substitution exon 1 VAR_022029 Q99698:p.His123Arg SP substitution exon 1 VAR_022030 Q9P2A4:p.Arg44Gln SP substitution exon 1 VAR_022031 Q9UKV3:p.Ile311Met SP substitution exon 1 VAR_022032 Q9UKV3:p.Ser467Pro SP substitution exon 1 VAR_022033 Q9UKV3:p.Ser478Phe SP substitution exon 1 VAR_022034 P35858:p.Pro498Ser SP substitution exon 1 VAR_022035 P35858:p.Arg548Trp SP substitution exon 1 VAR_022039 Q06481:p.Asp632Asn SP substitution exon 1 VAR_022041 Q9H2Y9:p.Leu33Phe SP substitution exon 1 VAR_022042 Q9UPX6:p.Ile832Val SP substitution exon 1 VAR_022044 O94919:p.Val350Met SP substitution exon 1 VAR_022045 O94919:p.Gly446Val SP substitution exon 1 VAR_022047 Q9Y585:p.Gly256Cys SP substitution exon 1 VAR_022048 O95006:p.Ala98Val SP substitution exon 1 VAR_022049 O60403:p.Ser171Phe SP substitution exon 1 VAR_022050 Q9NRC6:p.Arg1345His SP substitution exon 1 VAR_022051 O43852:p.Arg4Gln SP substitution exon 1 VAR_022052 Q9Y6J6:p.Ala66Val SP substitution exon 1 VAR_022053 P55211:p.Ile185Met SP substitution exon 1 VAR_022054 Q9BQS6:p.Gln2Pro SP substitution exon 1 VAR_022055 Q9HBJ7:p.Glu586Lys SP substitution exon 1 VAR_022056 Q13393:p.Ala622Ser SP substitution exon 1 VAR_022057 Q13393:p.Val820Met SP substitution exon 1 VAR_022058 P48448:p.Ala50Thr SP substitution exon 1 VAR_022059 Q96AA8:p.Val106Ile SP substitution exon 1 VAR_022060 Q9NPB8:p.Thr273Ile SP substitution exon 1 VAR_022061 P28566:p.Ala208Thr SP substitution exon 1 VAR_022062 P49238:p.Val147Ile SP substitution exon 1 VAR_022063 O43613:p.Ile408Val SP substitution exon 1 VAR_022064 Q8IYL9:p.Ile231Leu SP substitution exon 1 VAR_022065 P37288:p.Gly6Ser SP substitution exon 1 VAR_022066 O95977:p.Arg365Leu SP substitution exon 1 VAR_022067 O43194:p.Ala50Val SP substitution exon 1 VAR_022068 Q13748:p.Val440Met SP substitution exon 1 VAR_022069 P53420:p.Pro482Ser SP substitution exon 1 VAR_022071 P35968:p.Val297Ile SP substitution exon 1 VAR_022072 O15439:p.Lys304Asn SP substitution exon 1 VAR_022073 O15439:p.Glu757Lys SP substitution exon 1 VAR_022074 Q9H221:p.Val210Met SP substitution exon 1 VAR_022075 Q9H221:p.Met655Val SP substitution exon 1 VAR_022076 P55198:p.Ala198Thr SP substitution exon 1 VAR_022077 O95340:p.Val291Met SP substitution exon 1 VAR_022078 Q92736:p.Gly1886Ser SP substitution exon 1 VAR_022079 Q9H4G1:p.His109Pro SP substitution exon 1 VAR_022080 P04196:p.Ile180Thr SP substitution exon 1 VAR_022081 O60294:p.Arg141Ser SP substitution exon 1 VAR_022082 P54315:p.Ala271Val SP substitution exon 1 VAR_022083 Q9UKY4:p.Ala54Glu SP substitution exon 1 VAR_022084 P51589:p.Asn124Ser SP substitution exon 1 VAR_022085 Q92878:p.Thr191Ile SP substitution exon 1 VAR_022086 Q14697:p.Arg173Gln SP substitution exon 1 VAR_022088 Q6UB98:p.Ser818Asn SP substitution exon 1 VAR_022089 Q96Q27:p.Pro160Ser SP substitution exon 1 VAR_022090 Q8WXI3:p.Arg453Cys SP substitution exon 1 VAR_022091 P21589:p.Thr376Ala SP substitution exon 1 VAR_022092 Q16719:p.Lys412Glu SP substitution exon 1 VAR_022093 P07148:p.Thr94Ala SP substitution exon 1 VAR_022094 Q02127:p.Lys7Gln SP substitution exon 1 VAR_022095 Q06190:p.Asp745Asn SP substitution exon 1 VAR_022096 Q9UNA3:p.Ala218Asp SP substitution exon 1 VAR_022097 Q9UDX4:p.Asp335Glu SP substitution exon 1 VAR_022098 Q9Y3M8:p.Lys250Arg SP substitution exon 1 VAR_022099 P49961:p.Val293Ile SP substitution exon 1 VAR_022100 Q9BXB5:p.Asn254Asp SP substitution exon 1 VAR_022101 P58004:p.Thr320Ala SP substitution exon 1 VAR_022102 Q9H0T7:p.Leu191Pro SP substitution exon 1 VAR_022103 Q9Y4X3:p.Ile78Val SP substitution exon 1 VAR_022104 Q9Y4X3:p.Leu96Phe SP substitution exon 1 VAR_022105 Q15375:p.Ile138Val SP substitution exon 1 VAR_022106 Q15375:p.Pro278Ser SP substitution exon 1 VAR_022107 P29322:p.Val444Met SP substitution exon 1 VAR_022108 P35611:p.Arg6Cys SP substitution exon 1 VAR_022109 Q04446:p.Arg190Gly SP substitution exon 1 VAR_022110 Q9Y623:p.Thr883Met SP substitution exon 1 VAR_022111 Q9NQX7:p.Gly53Ser SP substitution exon 1 VAR_022112 Q8NFU5:p.Met349Ile SP substitution exon 1 VAR_022113 Q14973:p.Ser267Phe SP substitution exon 1 VAR_022114 Q8IVB4:p.Ile589Val SP substitution exon 1 VAR_022115 P36952:p.Ile319Val SP substitution exon 1 VAR_022116 P48595:p.Arg246Cys SP substitution exon 1 VAR_022117 Q9ULC5:p.Met182Val SP substitution exon 1 VAR_022118 P52757:p.His204Arg SP substitution exon 1 VAR_022119 Q8WXI4:p.Pro165Leu SP substitution exon 1 VAR_022120 Q8WXI4:p.Gly202Asp SP substitution exon 1 VAR_022121 Q8WXI4:p.Met212Ile SP substitution exon 1 VAR_022122 Q11128:p.Pro187Leu SP substitution exon 1 VAR_022123 Q9Y566:p.Val1504Ala SP substitution exon 1 VAR_022124 P04090:p.Pro68Gln SP substitution exon 1 VAR_022125 P42127:p.Val13Ala SP substitution exon 1 VAR_022126 Q9BSJ2:p.Ala111Thr SP substitution exon 1 VAR_022130 P19174:p.Ser279Gly SP substitution exon 1 VAR_022133 O15305:p.Gln37Leu SP substitution exon 1 VAR_022134 O15305:p.Met212Val SP substitution exon 1 VAR_022135 Q08397:p.Gly153Asp SP substitution exon 1 VAR_022136 O00295:p.Glu245Lys SP substitution exon 1 VAR_022137 Q92608:p.Thr1779Ser SP substitution exon 1 VAR_022138 Q13231:p.Gly102Ser SP substitution exon 1 VAR_022139 Q9HAQ2:p.Val78Ile SP substitution exon 1 VAR_022140 Q9BYV1:p.Val140Ile SP substitution exon 1 VAR_022141 Q9BYV1:p.Thr212Ile SP substitution exon 1 VAR_022143 P21580:p.Phe127Cys SP substitution exon 1 VAR_022144 Q9Y4D7:p.Met870Val SP substitution exon 1 VAR_022146 P09603:p.Ala531Val SP substitution exon 1 VAR_022147 P46059:p.Ser117Asn SP substitution exon 1 VAR_022148 P46059:p.Val450Ile SP substitution exon 1 VAR_022149 P46059:p.Arg459Cys SP substitution exon 1 VAR_022150 Q969V4:p.Arg254Cys SP substitution exon 1 VAR_022152 Q15084:p.Lys214Arg SP substitution exon 1 VAR_022153 Q92530:p.His174Arg SP substitution exon 1 VAR_022154 Q8TAZ6:p.Ile122Thr SP substitution exon 1 VAR_022155 Q14814:p.Pro434Ser SP substitution exon 1 VAR_022156 P09601:p.Pro106Leu SP substitution exon 1 VAR_022157 Q9NQ55:p.Gly358Val SP substitution exon 1 VAR_022158 Q9NRD1:p.Pro201Thr SP substitution exon 1 VAR_022159 Q12906:p.Asp50His SP substitution exon 1 VAR_022160 Q9BVP2:p.Arg39Gln SP substitution exon 1 VAR_022161 Q9BVP2:p.Val367Met SP substitution exon 1 VAR_022162 O75691:p.Ser502Cys SP substitution exon 1 VAR_022163 O75691:p.Glu2612Gln SP substitution exon 1 VAR_022164 O00469:p.Arg598His SP substitution exon 1 VAR_022165 O00469:p.Gly601Val SP substitution exon 1 VAR_022166 O00469:p.Thr608Ile SP substitution exon 1 VAR_022167 P22607:p.Gly65Arg SP substitution exon 1 VAR_022168 P22607:p.Phe384Leu SP substitution exon 1 VAR_022169 P22607:p.Ala441Thr SP substitution exon 1 VAR_022170 P22607:p.Ala717Thr SP substitution exon 1 VAR_022171 P22607:p.Ile726Phe SP substitution exon 1 VAR_022172 Q12888:p.Asp353Glu SP substitution exon 1 VAR_022173 Q12888:p.Gly412Ser SP substitution exon 1 VAR_022174 Q12888:p.Met648Val SP substitution exon 1 VAR_022175 Q12888:p.Gln699Arg SP substitution exon 1 VAR_022176 Q12888:p.Glu1014Gly SP substitution exon 1 VAR_022177 Q12888:p.Val1026Ala SP substitution exon 1 VAR_022178 Q12888:p.Lys1136Gln SP substitution exon 1 VAR_022179 Q12888:p.Ala1170Gly SP substitution exon 1 VAR_022180 Q12888:p.Ile1174Val SP substitution exon 1 VAR_022181 P24347:p.Ala38Val SP substitution exon 1 VAR_022182 P24347:p.Glu44Lys SP substitution exon 1 VAR_022183 P24347:p.Pro61Leu SP substitution exon 1 VAR_022184 P24347:p.Ser86Pro SP substitution exon 1 VAR_022185 Q99518:p.Phe69Tyr SP substitution exon 1 VAR_022187 Q10981:p.Gly258Ser SP substitution exon 1 VAR_022188 O14815:p.Ala102Val SP substitution exon 1 VAR_022189 O14815:p.Ser122Arg SP substitution exon 1 VAR_022190 O14815:p.Asp164Asn SP substitution exon 1 VAR_022191 O14815:p.Ile234Thr SP substitution exon 1 VAR_022192 O14815:p.Ala239Thr SP substitution exon 1 VAR_022193 O14815:p.Arg277Trp SP substitution exon 1 VAR_022194 O14815:p.Lys322Gln SP substitution exon 1 VAR_022195 O14815:p.His327Gln SP substitution exon 1 VAR_022196 O14815:p.Glu342Lys SP substitution exon 1 VAR_022197 O14815:p.Arg458Trp SP substitution exon 1 VAR_022198 O14815:p.Arg522Trp SP substitution exon 1 VAR_022199 O14815:p.Met611Ile SP substitution exon 1 VAR_022200 P21217:p.Gly5Ser SP substitution exon 1 VAR_022201 P21217:p.Arg160Cys SP substitution exon 1 VAR_022202 P21217:p.Thr325Met SP substitution exon 1 VAR_022203 P21217:p.Arg327Gln SP substitution exon 1 VAR_022204 Q01740:p.Arg223Gln SP substitution exon 1 VAR_022205 Q01740:p.Ser227Thr SP substitution exon 1 VAR_022206 Q01740:p.Ile322Val SP substitution exon 1 VAR_022207 Q01740:p.Phe327Leu SP substitution exon 1 VAR_022208 Q01740:p.Lys373Arg SP substitution exon 1 VAR_022209 Q01740:p.Arg474His SP substitution exon 1 VAR_022210 O15217:p.Leu100Pro SP substitution exon 1 VAR_022212 P09467:p.Arg218Lys SP substitution exon 1 VAR_022213 P09467:p.Phe233Ile SP substitution exon 1 VAR_022214 P09467:p.Arg255Leu SP substitution exon 1 VAR_022215 P54368:p.Arg32Leu SP substitution exon 1 VAR_022216 P54368:p.Gly44Asp SP substitution exon 1 VAR_022217 P54368:p.Ser50Phe SP substitution exon 1 VAR_022218 P54368:p.Ser53Phe SP substitution exon 1 VAR_022219 P54368:p.Ala147Val SP substitution exon 1 VAR_022220 Q16543:p.Gly360Glu SP substitution exon 1 VAR_022221 O95067:p.Met100Thr SP substitution exon 1 VAR_022222 O95067:p.Ile395Thr SP substitution exon 1 VAR_022223 Q00653:p.Glu14Lys SP substitution exon 1 VAR_022224 Q00653:p.Gly351Arg SP substitution exon 1 VAR_022225 Q00653:p.Gly452Arg SP substitution exon 1 VAR_022226 O60673:p.Gln397Pro SP substitution exon 1 VAR_022227 O60673:p.Met693Thr SP substitution exon 1 VAR_022228 O60673:p.Arg962Gln SP substitution exon 1 VAR_022229 O60673:p.Tyr1156Cys SP substitution exon 1 VAR_022230 O60673:p.Thr1224Ile SP substitution exon 1 VAR_022231 O60673:p.Ser1302Thr SP substitution exon 1 VAR_022232 O60673:p.Gln1309His SP substitution exon 1 VAR_022233 O60673:p.Pro1339Thr SP substitution exon 1 VAR_022234 O60673:p.Gln1469Pro SP substitution exon 1 VAR_022235 O60673:p.Ser1576Leu SP substitution exon 1 VAR_022236 O60673:p.Asp1713Asn SP substitution exon 1 VAR_022237 O60673:p.Ser1724Thr SP substitution exon 1 VAR_022238 O60673:p.Pro1791Ser SP substitution exon 1 VAR_022239 O60673:p.Asp1812His SP substitution exon 1 VAR_022240 O60673:p.Gly1923Arg SP substitution exon 1 VAR_022241 O60673:p.Arg1970His SP substitution exon 1 VAR_022242 O60673:p.Glu2015Val SP substitution exon 1 VAR_022243 O60673:p.Ile2075Met SP substitution exon 1 VAR_022244 O60673:p.Arg2762Gln SP substitution exon 1 VAR_022245 Q6J9G0:p.Ser204Gly SP substitution exon 1 VAR_022246 Q8NER1:p.Ile585Val SP substitution exon 1 VAR_022247 Q9NQA5:p.Ala8Val SP substitution exon 1 VAR_022248 Q9NQA5:p.Arg154His SP substitution exon 1 VAR_022249 Q9NQA5:p.Ala563Thr SP substitution exon 1 VAR_022250 Q9NQA5:p.Leu712Phe SP substitution exon 1 VAR_022251 Q9H1D0:p.Cys157Arg SP substitution exon 1 VAR_022252 Q9H1D0:p.Met378Val SP substitution exon 1 VAR_022254 P21359:p.Tyr80Cys SP substitution exon 1 VAR_022255 P21359:p.Pro678Leu SP substitution exon 1 VAR_022256 P21359:p.Tyr1422His SP substitution exon 1 VAR_022257 P21359:p.Val2511Leu SP substitution exon 1 VAR_022258 Q96IY4:p.Ile347Thr SP substitution exon 1 VAR_022259 O43405:p.Gly135Arg SP substitution exon 1 VAR_022260 O43405:p.Asp281Asn SP substitution exon 1 VAR_022261 O43405:p.Ile402Val SP substitution exon 1 VAR_022262 P15529:p.Asp266Asn SP substitution exon 1 VAR_022263 P15529:p.Pro324Leu SP substitution exon 1 VAR_022264 P15529:p.Ala353Val SP substitution exon 1 VAR_022265 P15529:p.Val355Gly SP substitution exon 1 VAR_022266 Q93070:p.Asp135Glu SP substitution exon 1 VAR_022267 Q93070:p.Thr189Met SP substitution exon 1 VAR_022268 P19526:p.Ala12Val SP substitution exon 1 VAR_022269 Q9HCU8:p.Arg39Pro SP substitution exon 1 VAR_022270 Q9NPI8:p.Pro320Leu SP substitution exon 1 VAR_022271 O00151:p.Asn175Ser SP substitution exon 1 VAR_022272 P20807:p.Gly21Glu SP substitution exon 1 VAR_022273 P30084:p.Val11Ala SP substitution exon 1 VAR_022274 P30084:p.Thr75Ile SP substitution exon 1 VAR_022275 P10768:p.Gly257Asp SP substitution exon 1 VAR_022276 P08183:p.Phe17Leu SP substitution exon 1 VAR_022277 P08183:p.Glu566Lys SP substitution exon 1 VAR_022278 P08183:p.Arg593Cys SP substitution exon 1 VAR_022279 P08183:p.Ile836Val SP substitution exon 1 VAR_022280 P08183:p.Pro1051Ala SP substitution exon 1 VAR_022281 P08183:p.Ser1141Thr SP substitution exon 1 VAR_022282 P98170:p.Asn107Ser SP substitution exon 1 VAR_022283 P98170:p.Ser133Phe SP substitution exon 1 VAR_022284 P98170:p.Asp242Glu SP substitution exon 1 VAR_022285 P98170:p.Gln423Pro SP substitution exon 1 VAR_022286 P53539:p.Gly33Ser SP substitution exon 1 VAR_022287 Q9NP87:p.Glu107Asp SP substitution exon 1 VAR_022288 Q9NP87:p.Gly220Ala SP substitution exon 1 VAR_022289 Q9NP87:p.Val246Phe SP substitution exon 1 VAR_022290 Q9NP87:p.Leu484Phe SP substitution exon 1 VAR_022291 Q8N119:p.Ala95Glu SP substitution exon 1 VAR_022292 Q8N119:p.Pro115Gln SP substitution exon 1 VAR_022293 Q8N119:p.Glu349Gly SP substitution exon 1 VAR_022294 Q8N119:p.Ala454Val SP substitution exon 1 VAR_022295 P54132:p.Lys137Arg SP substitution exon 1 VAR_022296 P54132:p.Thr298Met SP substitution exon 1 VAR_022297 P54132:p.Arg591Gln SP substitution exon 1 VAR_022298 P54132:p.Pro868Leu SP substitution exon 1 VAR_022299 P54132:p.Val1205Ile SP substitution exon 1 VAR_022300 P54132:p.Glu1213Lys SP substitution exon 1 VAR_022302 P31213:p.Leu113Val SP substitution exon 1 VAR_022303 P35221:p.Ala179Val SP substitution exon 1 VAR_022304 P35221:p.Pro219Ser SP substitution exon 1 VAR_022305 P31512:p.Gly372Ser SP substitution exon 1 VAR_022306 P31512:p.Phe536Leu SP substitution exon 1 VAR_022307 P31512:p.Leu544Arg SP substitution exon 1 VAR_022308 P49326:p.Pro400Ala SP substitution exon 1 VAR_022309 P49326:p.Arg506Ser SP substitution exon 1 VAR_022310 Q13426:p.Ser12Cys SP substitution exon 1 VAR_022311 Q13426:p.Ala56Thr SP substitution exon 1 VAR_022312 Q13426:p.Ile134Thr SP substitution exon 1 VAR_022313 Q13426:p.Glu142Gln SP substitution exon 1 VAR_022314 P33316:p.Pro100Ser SP substitution exon 1 VAR_022315 P05067:p.Glu501Lys SP substitution exon 1 VAR_022316 P04637:p.Glu339Lys SP substitution exon 1 VAR_022318 P29972:p.Gly165Asp SP substitution exon 1 VAR_022319 Q13336:p.Glu44Lys SP substitution exon 1 VAR_022320 Q9NPC4:p.Gln163Arg SP substitution exon 1 VAR_022321 P38935:p.Leu192Pro SP substitution exon 1 VAR_022322 P38935:p.His213Arg SP substitution exon 1 VAR_022323 P38935:p.Thr221Ala SP substitution exon 1 VAR_022324 P38935:p.Cys241Arg SP substitution exon 1 VAR_022325 P38935:p.Glu334Lys SP substitution exon 1 VAR_022326 P38935:p.Leu361Pro SP substitution exon 1 VAR_022327 P38935:p.Leu364Pro SP substitution exon 1 VAR_022328 P38935:p.Glu382Lys SP substitution exon 1 VAR_022329 P38935:p.Leu426Pro SP substitution exon 1 VAR_022330 P38935:p.Glu514Lys SP substitution exon 1 VAR_022331 P38935:p.Asp565Asn SP substitution exon 1 VAR_022333 P38935:p.Leu577Pro SP substitution exon 1 VAR_022334 P38935:p.Val580Ile SP substitution exon 1 VAR_022335 P38935:p.Asn583Ile SP substitution exon 1 VAR_022336 P38935:p.Gly586Cys SP substitution exon 1 VAR_022337 P38935:p.Arg603His SP substitution exon 1 VAR_022341 P35499:p.Ala1152Asp SP substitution exon 1 VAR_022344 P36897:p.Thr200Ile SP substitution exon 1 VAR_022345 P36897:p.Met318Arg SP substitution exon 1 VAR_022346 P36897:p.Asp400Gly SP substitution exon 1 VAR_022363 Q76N32:p.Gly74Ser SP substitution exon 1 VAR_022364 Q9H668:p.Thr151Ala SP substitution exon 1 VAR_022365 Q9H668:p.Ser248Cys SP substitution exon 1 VAR_022366 Q8N0X2:p.Gln361His SP substitution exon 1 VAR_022367 Q8N0X2:p.Lys425Thr SP substitution exon 1 VAR_022368 Q96JM7:p.Thr183Asn SP substitution exon 1 VAR_022369 P12883:p.Arg1500Pro SP substitution exon 1 VAR_022370 P12883:p.Ala1663Pro SP substitution exon 1 VAR_022371 P12883:p.Leu1706Pro SP substitution exon 1 VAR_022372 Q9GZS1:p.Asp254His SP substitution exon 1 VAR_022373 Q9GZS1:p.Val418Met SP substitution exon 1 VAR_022374 Q9GZS1:p.Arg445Lys SP substitution exon 1 VAR_022375 Q96G97:p.Asn88Ser SP substitution exon 1 VAR_022376 Q96G97:p.Ser90Leu SP substitution exon 1 VAR_022377 Q96G97:p.Ala212Pro SP substitution exon 1 VAR_022378 P78330:p.Asp32Asn SP substitution exon 1 VAR_022379 P78330:p.Met52Thr SP substitution exon 1 VAR_022380 P27987:p.Pro552Gln SP substitution exon 1 VAR_022381 Q14004:p.Pro356Ala SP substitution exon 1 VAR_022382 Q14004:p.Leu403Phe SP substitution exon 1 VAR_022383 Q14004:p.Arg410Gln SP substitution exon 1 VAR_022384 Q14004:p.Thr500Ala SP substitution exon 1 VAR_022385 Q14004:p.Ser624Gly SP substitution exon 1 VAR_022386 Q14004:p.Arg700Leu SP substitution exon 1 VAR_022387 Q14004:p.Val1062Met SP substitution exon 1 VAR_022388 P49638:p.Arg59Trp SP substitution exon 1 VAR_022389 P49638:p.Ala120Thr SP substitution exon 1 VAR_022390 P49638:p.Glu141Lys SP substitution exon 1 VAR_022391 P49638:p.Arg221Trp SP substitution exon 1 VAR_022392 P49638:p.Gly246Arg SP substitution exon 1 VAR_022393 P22033:p.Gly94Val SP substitution exon 1 VAR_022394 P22033:p.Arg108His SP substitution exon 1 VAR_022395 P22033:p.Ala137Val SP substitution exon 1 VAR_022396 P22033:p.Ser148Leu SP substitution exon 1 VAR_022397 P22033:p.Asp156Asn SP substitution exon 1 VAR_022398 P22033:p.Gly158Val SP substitution exon 1 VAR_022399 P22033:p.Phe174Ser SP substitution exon 1 VAR_022400 P22033:p.Gly203Arg SP substitution exon 1 VAR_022401 P22033:p.Gly215Ser SP substitution exon 1 VAR_022402 P22033:p.Gln218His SP substitution exon 1 VAR_022403 P22033:p.Asn219Tyr SP substitution exon 1 VAR_022404 P22033:p.Ser262Asn SP substitution exon 1 VAR_022405 P22033:p.Gln293Pro SP substitution exon 1 VAR_022406 P22033:p.Leu328Phe SP substitution exon 1 VAR_022407 P22033:p.Ala499Thr SP substitution exon 1 VAR_022408 P22033:p.Ala535Pro SP substitution exon 1 VAR_022409 P22033:p.Tyr587Cys SP substitution exon 1 VAR_022410 P22033:p.Pro615Thr SP substitution exon 1 VAR_022411 P22033:p.Lys621Asn SP substitution exon 1 VAR_022412 P22033:p.Gln624Arg SP substitution exon 1 VAR_022413 P22033:p.His627Arg SP substitution exon 1 VAR_022414 P22033:p.Gly637Glu SP substitution exon 1 VAR_022415 P22033:p.Phe638Ile SP substitution exon 1 VAR_022416 P22033:p.Asp640Tyr SP substitution exon 1 VAR_022417 P22033:p.Gly642Arg SP substitution exon 1 VAR_022418 P22033:p.Met700Lys SP substitution exon 1 VAR_022419 P78424:p.Gln192His SP substitution exon 1 VAR_022423 O75712:p.Val200Ile SP substitution exon 1 VAR_022424 O95452:p.Ser139Gly SP substitution exon 1 VAR_022425 O95452:p.Ser199Thr SP substitution exon 1 VAR_022426 Q9Y6H8:p.Leu299Met SP substitution exon 1 VAR_022427 P43307:p.Leu28Ser SP substitution exon 1 VAR_022428 P56645:p.Leu827Pro SP substitution exon 1 VAR_022429 Q04446:p.Leu224Pro SP substitution exon 1 VAR_022430 Q04446:p.Phe257Leu SP substitution exon 1 VAR_022431 Q04446:p.Tyr329Ser SP substitution exon 1 VAR_022432 Q04446:p.Arg515Cys SP substitution exon 1 VAR_022433 Q04446:p.Arg515His SP substitution exon 1 VAR_022434 Q04446:p.Arg524Gln SP substitution exon 1 VAR_022435 Q04446:p.His545Arg SP substitution exon 1 VAR_022436 Q04446:p.His628Arg SP substitution exon 1 VAR_022437 Q9NRI5:p.Arg264Gln SP substitution exon 1 VAR_022439 P06865:p.Leu127Phe SP substitution exon 1 VAR_022440 P06865:p.Ser226Phe SP substitution exon 1 VAR_022441 P06865:p.Gly269Asp SP substitution exon 1 VAR_022442 P06865:p.Asp314Val SP substitution exon 1 VAR_022443 Q9UNQ0:p.Thr316Pro SP substitution exon 1 VAR_022444 Q9BTY2:p.Met356Val SP substitution exon 1 VAR_022445 Q9BTY2:p.His371Tyr SP substitution exon 1 VAR_022446 O00429:p.Ser71Thr SP substitution exon 1 VAR_022447 Q6WKZ4:p.Met1185Thr SP substitution exon 1 VAR_022448 Q9UKZ9:p.Pro292Thr SP substitution exon 1 VAR_022449 Q9BQ51:p.Phe229Ser SP substitution exon 1 VAR_022450 O75173:p.Gln626Arg SP substitution exon 1 VAR_022451 Q96JJ7:p.Pro61Ser SP substitution exon 1 VAR_022452 Q8N5D6:p.Leu20Phe SP substitution exon 1 VAR_022453 Q9H1B5:p.Arg305Thr SP substitution exon 1 VAR_022454 Q9H1B5:p.Thr801Arg SP substitution exon 1 VAR_022455 P18850:p.Met67Leu SP substitution exon 1 VAR_022456 P18850:p.Met67Val SP substitution exon 1 VAR_022457 P18850:p.Ala145Pro SP substitution exon 1 VAR_022458 P18850:p.Pro157Ser SP substitution exon 1 VAR_022459 P12235:p.Leu98Pro SP substitution exon 1 VAR_022460 P12235:p.Asp104Gly SP substitution exon 1 VAR_022461 O96017:p.Arg117Gly SP substitution exon 1 VAR_022462 O96017:p.Arg137Gln SP substitution exon 1 VAR_022464 O95140:p.Lys357Asn SP substitution exon 1 VAR_022465 Q96IZ0:p.Pro42Leu SP substitution exon 1 VAR_022466 Q96IZ0:p.Pro78Arg SP substitution exon 1 VAR_022467 Q96IZ0:p.Gly137Ala SP substitution exon 1 VAR_022468 Q96IZ0:p.Glu202Ala SP substitution exon 1 VAR_022469 O15305:p.Cys9Tyr SP substitution exon 1 VAR_022470 O15305:p.Phe11Cys SP substitution exon 1 VAR_022471 O15305:p.Gly15Glu SP substitution exon 1 VAR_022472 O15305:p.Pro20Ser SP substitution exon 1 VAR_022473 O15305:p.Leu32Arg SP substitution exon 1 VAR_022474 O15305:p.Gln37His SP substitution exon 1 VAR_022475 O15305:p.Gly42Arg SP substitution exon 1 VAR_022476 O15305:p.Tyr64Cys SP substitution exon 1 VAR_022477 O15305:p.Val67Met SP substitution exon 1 VAR_022478 O15305:p.Pro69Ser SP substitution exon 1 VAR_022479 O15305:p.Tyr76Cys SP substitution exon 1 VAR_022480 O15305:p.Glu93Ala SP substitution exon 1 VAR_022481 O15305:p.Cys103Phe SP substitution exon 1 VAR_022482 O15305:p.Ile120Thr SP substitution exon 1 VAR_022483 O15305:p.Ile132Phe SP substitution exon 1 VAR_022484 O15305:p.Ile132Asn SP substitution exon 1 VAR_022485 O15305:p.Arg141Cys SP substitution exon 1 VAR_022486 O15305:p.Phe144Leu SP substitution exon 1 VAR_022487 O15305:p.Asp148Asn SP substitution exon 1 VAR_022488 O15305:p.Glu151Gly SP substitution exon 1 VAR_022489 O15305:p.Ile153Thr SP substitution exon 1 VAR_022490 O15305:p.Phe157Ser SP substitution exon 1 VAR_022491 O15305:p.Phe172Val SP substitution exon 1 VAR_022492 O15305:p.Gly176Val SP substitution exon 1 VAR_022493 O15305:p.Gln177His SP substitution exon 1 VAR_022494 O15305:p.Phe183Ser SP substitution exon 1 VAR_022495 O15305:p.Asp185Gly SP substitution exon 1 VAR_022496 O15305:p.Cys192Gly SP substitution exon 1 VAR_022497 O15305:p.His195Arg SP substitution exon 1 VAR_022498 O15305:p.Glu197Ala SP substitution exon 1 VAR_022499 O15305:p.Phe206Ser SP substitution exon 1 VAR_022500 O15305:p.Gly214Ser SP substitution exon 1 VAR_022501 O15305:p.Asn216Ser SP substitution exon 1 VAR_022502 O15305:p.Asp217Glu SP substitution exon 1 VAR_022503 O15305:p.His218Leu SP substitution exon 1 VAR_022504 O15305:p.Asp223Asn SP substitution exon 1 VAR_022505 O15305:p.Thr226Ser SP substitution exon 1 VAR_022506 O15305:p.Gly228Cys SP substitution exon 1 VAR_022507 O15305:p.Gly228Arg SP substitution exon 1 VAR_022508 O15305:p.Thr237Arg SP substitution exon 1 VAR_022509 O15305:p.Arg238Gly SP substitution exon 1 VAR_022510 O15305:p.Cys241Ser SP substitution exon 1 VAR_022511 Q9Y672:p.Tyr131His SP substitution exon 1 VAR_022512 Q9Y672:p.Ser170Ile SP substitution exon 1 VAR_022513 Q9Y672:p.Gly227Glu SP substitution exon 1 VAR_022514 Q9Y672:p.Ser308Arg SP substitution exon 1 VAR_022516 P34949:p.Met51Thr SP substitution exon 1 VAR_022517 P34949:p.Tyr129Cys SP substitution exon 1 VAR_022518 P34949:p.Asp131Asn SP substitution exon 1 VAR_022519 P34949:p.Arg152Gln SP substitution exon 1 VAR_022520 P34949:p.Gly250Ser SP substitution exon 1 VAR_022521 P34949:p.Tyr255Cys SP substitution exon 1 VAR_022522 P34949:p.Arg295His SP substitution exon 1 VAR_022525 P17050:p.Arg329Gln SP substitution exon 1 VAR_022526 O75161:p.Asp3Tyr SP substitution exon 1 VAR_022527 O75161:p.Thr29Met SP substitution exon 1 VAR_022528 O75161:p.Phe91Leu SP substitution exon 1 VAR_022529 O75161:p.Arg342Cys SP substitution exon 1 VAR_022530 O75161:p.Arg469Trp SP substitution exon 1 VAR_022531 O75161:p.Ala544Gly SP substitution exon 1 VAR_022532 O75161:p.Glu618Lys SP substitution exon 1 VAR_022533 O75161:p.Thr627Met SP substitution exon 1 VAR_022534 O75161:p.Ala654Gly SP substitution exon 1 VAR_022535 O75161:p.Arg735Trp SP substitution exon 1 VAR_022536 O75161:p.Arg740His SP substitution exon 1 VAR_022537 O75161:p.Val765Ile SP substitution exon 1 VAR_022538 O75161:p.Gln766Arg SP substitution exon 1 VAR_022539 O75161:p.Pro776Arg SP substitution exon 1 VAR_022540 O75161:p.His782Gln SP substitution exon 1 VAR_022542 O75161:p.Thr946Ala SP substitution exon 1 VAR_022543 O75161:p.Arg961His SP substitution exon 1 VAR_022544 O75161:p.Ala1098Thr SP substitution exon 1 VAR_022545 O75161:p.Arg1192Trp SP substitution exon 1 VAR_022546 O75161:p.Thr1225Met SP substitution exon 1 VAR_022547 O75161:p.Arg1284Cys SP substitution exon 1 VAR_022548 O75161:p.Gln1287Glu SP substitution exon 1 VAR_022549 Q969H9:p.Ser51Ala SP substitution exon 1 VAR_022550 O95897:p.Arg106Gln SP substitution exon 1 VAR_022551 Q15155:p.Met493Val SP substitution exon 1 VAR_022552 Q969V3:p.Lys551Arg SP substitution exon 1 VAR_022553 O60832:p.Gly223Asp SP substitution exon 1 VAR_022554 Q96T88:p.Asp240His SP substitution exon 1 VAR_022555 Q96T88:p.Glu379Lys SP substitution exon 1 VAR_022556 Q96T88:p.Ala638Thr SP substitution exon 1 VAR_022557 Q96T88:p.Thr642Met SP substitution exon 1 VAR_022558 Q96T88:p.Leu713Phe SP substitution exon 1 VAR_022559 Q9BXW9:p.Ser126Gly SP substitution exon 1 VAR_022560 Q9BXW9:p.Arg302Trp SP substitution exon 1 VAR_022561 Q9BXW9:p.Pro714Leu SP substitution exon 1 VAR_022562 Q9BXW9:p.Arg1236His SP substitution exon 1 VAR_022563 O15305:p.Val44Leu SP substitution exon 1 VAR_022564 O76082:p.Met179Leu SP substitution exon 1 VAR_022565 O76082:p.Trp283Cys SP substitution exon 1 VAR_022566 O76082:p.Ser467Cys SP substitution exon 1 VAR_022567 P06132:p.Gly25Glu SP substitution exon 1 VAR_022568 P06132:p.Phe46Leu SP substitution exon 1 VAR_022569 P06132:p.Ala80Ser SP substitution exon 1 VAR_022570 P06132:p.Arg144Pro SP substitution exon 1 VAR_022571 P06132:p.Gly156Asp SP substitution exon 1 VAR_022572 P06132:p.Arg193Pro SP substitution exon 1 VAR_022573 P06132:p.Leu216Gln SP substitution exon 1 VAR_022574 P06132:p.Glu218Lys SP substitution exon 1 VAR_022575 P06132:p.Phe232Leu SP substitution exon 1 VAR_022576 P06132:p.Ile260Thr SP substitution exon 1 VAR_022577 P06132:p.Leu282Arg SP substitution exon 1 VAR_022578 P06132:p.Gly303Ser SP substitution exon 1 VAR_022579 Q9UBC3:p.Ser270Pro SP substitution exon 1 VAR_022580 Q9UBC3:p.Leu664Pro SP substitution exon 1 VAR_022581 Q9UBC3:p.Arg840Gln SP substitution exon 1 VAR_022582 P28358:p.Met319Lys SP substitution exon 1 VAR_022583 P20594:p.Pro32Thr SP substitution exon 1 VAR_022584 P20594:p.Trp115Gly SP substitution exon 1 VAR_022585 P20594:p.Asp176Glu SP substitution exon 1 VAR_022586 P20594:p.Thr297Met SP substitution exon 1 VAR_022587 P20594:p.Tyr338Cys SP substitution exon 1 VAR_022588 P20594:p.Ala409Thr SP substitution exon 1 VAR_022589 P20594:p.Gly413Glu SP substitution exon 1 VAR_022590 P20594:p.Tyr708Cys SP substitution exon 1 VAR_022591 P20594:p.Arg776Trp SP substitution exon 1 VAR_022592 P20594:p.Arg957Cys SP substitution exon 1 VAR_022593 P20594:p.Gly959Ala SP substitution exon 1 VAR_022594 Q9NP59:p.Ala77Asp SP substitution exon 1 VAR_022595 Q9NP59:p.Asn144His SP substitution exon 1 VAR_022596 Q9NP59:p.Asp157Gly SP substitution exon 1 VAR_022598 Q9NP59:p.Gln182His SP substitution exon 1 VAR_022599 Q9NP59:p.Gly323Val SP substitution exon 1 VAR_022600 Q07837:p.Thr216Met SP substitution exon 1 VAR_022601 Q07837:p.Arg362Cys SP substitution exon 1 VAR_022603 P82251:p.Ala224Val SP substitution exon 1 VAR_022604 P82251:p.Ala331Val SP substitution exon 1 VAR_022605 Q9Y2R2:p.Arg620Trp SP substitution exon 1 VAR_022606 Q9HCJ1:p.Pro5Leu SP substitution exon 1 VAR_022607 Q9HCJ1:p.Pro5Thr SP substitution exon 1 VAR_022608 P07741:p.Val150Phe SP substitution exon 1 VAR_022609 P07741:p.Cys153Arg SP substitution exon 1 VAR_022612 Q9H3G5:p.Ala435Val SP substitution exon 1 VAR_022614 Q969Z4:p.Ala332Val SP substitution exon 1 VAR_022622 Q6P2Q9:p.Lys68Glu SP substitution exon 1 VAR_022623 Q6P2Q9:p.Arg227His SP substitution exon 1 VAR_022624 Q6P2Q9:p.Pro874Leu SP substitution exon 1 VAR_022625 Q6P2Q9:p.Asn1293His SP substitution exon 1 VAR_022626 Q6P2Q9:p.Pro2301Thr SP substitution exon 1 VAR_022627 Q6P2Q9:p.Phe2304Leu SP substitution exon 1 VAR_022628 Q6P2Q9:p.His2309Pro SP substitution exon 1 VAR_022629 Q6P2Q9:p.His2309Arg SP substitution exon 1 VAR_022630 Q6P2Q9:p.Arg2310Gly SP substitution exon 1 VAR_022631 Q6P2Q9:p.Arg2310Lys SP substitution exon 1 VAR_022632 Q6P2Q9:p.Phe2314Leu SP substitution exon 1 VAR_022633 Q6P2Q9:p.Tyr2334Asn SP substitution exon 1 VAR_022634 O95551:p.Gln249Glu SP substitution exon 1 VAR_022635 O95551:p.Arg268Gln SP substitution exon 1 VAR_022636 P43657:p.Ile33Val SP substitution exon 1 VAR_022642 Q8N441:p.Pro362Gln SP substitution exon 1 VAR_022643 Q96JB8:p.Gly44Ser SP substitution exon 1 VAR_022644 Q9Y2A9:p.Arg328His SP substitution exon 1 VAR_022647 Q6ZYL4:p.Leu21Pro SP substitution exon 1 VAR_022648 Q5FWF5:p.Thr221Met SP substitution exon 1 VAR_022649 Q56NI9:p.Trp539Gly SP substitution exon 1 VAR_022650 Q86WB7:p.Val292Ile SP substitution exon 1 VAR_022651 Q86WB7:p.Tyr387His SP substitution exon 1 VAR_022652 Q86WB7:p.Met403Thr SP substitution exon 1 VAR_022653 Q86WB7:p.Val409Ile SP substitution exon 1 VAR_022654 Q86WB7:p.Val445Ala SP substitution exon 1 VAR_022655 P28332:p.Cys102Gly SP substitution exon 1 VAR_022656 P28332:p.Ile114Val SP substitution exon 1 VAR_022658 P55157:p.Val168Ile SP substitution exon 1 VAR_022659 P54315:p.Glu414Asp SP substitution exon 1 VAR_022660 O43837:p.Ala3Val SP substitution exon 1 VAR_022661 Q9Y6A1:p.Ala200Pro SP substitution exon 1 VAR_022663 P40692:p.Arg18Cys SP substitution exon 1 VAR_022664 P40692:p.Gly101Asp SP substitution exon 1 VAR_022665 P40692:p.Asp132His SP substitution exon 1 VAR_022666 P40692:p.Arg182Lys SP substitution exon 1 VAR_022667 P40692:p.Tyr379Cys SP substitution exon 1 VAR_022668 P40692:p.Leu559Arg SP substitution exon 1 VAR_022669 P40692:p.Pro648Ser SP substitution exon 1 VAR_022670 P43246:p.Val163Gly SP substitution exon 1 VAR_022671 P43246:p.Asp660Gly SP substitution exon 1 VAR_022672 P98194:p.Gly309Cys SP substitution exon 1 VAR_022673 P98194:p.Leu341Pro SP substitution exon 1 VAR_022674 P98194:p.Cys411Arg SP substitution exon 1 VAR_022675 P98194:p.Ile580Val SP substitution exon 1 VAR_022678 Q9NPH0:p.Val316Met SP substitution exon 1 VAR_022679 P04279:p.Arg372Leu SP substitution exon 1 VAR_022680 Q8NAC3:p.Ser182Leu SP substitution exon 1 VAR_022681 Q86UE6:p.Asn330Ser SP substitution exon 1 VAR_022682 Q9H3S7:p.Ala944Thr SP substitution exon 1 VAR_022683 Q9H3S7:p.Pro1099Ser SP substitution exon 1 VAR_022684 P30039:p.Arg17Cys SP substitution exon 1 VAR_022686 P20810:p.Cys408Ser SP substitution exon 1 VAR_022687 P58335:p.Leu45Pro SP substitution exon 1 VAR_022688 P58335:p.Gly105Asp SP substitution exon 1 VAR_022689 P58335:p.Ile189Thr SP substitution exon 1 VAR_022690 P58335:p.Cys218Arg SP substitution exon 1 VAR_022692 P58335:p.Leu329Arg SP substitution exon 1 VAR_022693 P58335:p.Ala357Pro SP substitution exon 1 VAR_022694 P58335:p.Tyr381Cys SP substitution exon 1 VAR_022695 Q8NI35:p.Cys744Arg SP substitution exon 1 VAR_022696 Q9NUQ2:p.Tyr77Cys SP substitution exon 1 VAR_022697 O60513:p.Gln116Glu SP substitution exon 1 VAR_022698 Q01968:p.Arg318Cys SP substitution exon 1 VAR_022699 Q01968:p.Tyr479Cys SP substitution exon 1 VAR_022700 P37231:p.Phe388Leu SP substitution exon 1 VAR_022701 P37231:p.Arg425Cys SP substitution exon 1 VAR_022703 P37840:p.Glu46Lys SP substitution exon 1 VAR_022704 Q9UNQ0:p.Gln166Glu SP substitution exon 1 VAR_022705 Q9UNQ0:p.Ile206Leu SP substitution exon 1 VAR_022706 Q9UNQ0:p.Phe208Ser SP substitution exon 1 VAR_022707 Q9UNQ0:p.Ser248Pro SP substitution exon 1 VAR_022710 Q9UMX9:p.Pro58Ala SP substitution exon 1 VAR_022711 Q9UMX9:p.Pro58Ser SP substitution exon 1 VAR_022712 Q9UMX9:p.Asp157Asn SP substitution exon 1 VAR_022713 Q9UMX9:p.Gly188Val SP substitution exon 1 VAR_022714 Q9UMX9:p.Trp202Cys SP substitution exon 1 VAR_022716 Q9UMX9:p.Glu272Lys SP substitution exon 1 VAR_022717 Q9UMX9:p.Tyr317Cys SP substitution exon 1 VAR_022718 Q9UMX9:p.Leu361Pro SP substitution exon 1 VAR_022719 Q9UMX9:p.Ala477Thr SP substitution exon 1 VAR_022720 Q9UMX9:p.Ala486Val SP substitution exon 1 VAR_022721 Q9UMX9:p.Thr500Pro SP substitution exon 1 VAR_022722 Q9UMX9:p.Val507Leu SP substitution exon 1 VAR_022730 P41229:p.Ala388Pro SP substitution exon 1 VAR_022731 P41229:p.Asp402Tyr SP substitution exon 1 VAR_022732 P41229:p.Glu698Lys SP substitution exon 1 VAR_022733 P41229:p.Leu731Phe SP substitution exon 1 VAR_022734 P21333:p.Ala39Gly SP substitution exon 1 VAR_022735 Q92915:p.Gly42Cys SP substitution exon 1 VAR_022736 Q92915:p.Phe145Ser SP substitution exon 1 VAR_022737 Q9H936:p.Pro206Leu SP substitution exon 1 VAR_022738 Q96G61:p.Ser39Asn SP substitution exon 1 VAR_022739 Q96I82:p.Cys76Gly SP substitution exon 1 VAR_022740 Q7RTS9:p.Glu87Lys SP substitution exon 1 VAR_022742 P27352:p.Gln23Arg SP substitution exon 1 VAR_022743 P27352:p.Ser46Leu SP substitution exon 1 VAR_022744 P27352:p.Asn255Ser SP substitution exon 1 VAR_022745 P05093:p.Pro35Leu SP substitution exon 1 VAR_022746 P05093:p.Arg96Trp SP substitution exon 1 VAR_022747 P05093:p.Phe114Val SP substitution exon 1 VAR_022748 P05093:p.Asp116Val SP substitution exon 1 VAR_022749 P05093:p.Asn177Asp SP substitution exon 1 VAR_022750 P05093:p.Tyr329Asp SP substitution exon 1 VAR_022752 P05093:p.Arg347Cys SP substitution exon 1 VAR_022753 P05093:p.Arg362Cys SP substitution exon 1 VAR_022754 P05093:p.Trp406Arg SP substitution exon 1 VAR_022755 P05093:p.Phe417Cys SP substitution exon 1 VAR_022756 P05093:p.Pro428Leu SP substitution exon 1 VAR_022757 P05093:p.Arg496His SP substitution exon 1 VAR_022758 P09172:p.Val101Met SP substitution exon 1 VAR_022759 P09172:p.Asp114Glu SP substitution exon 1 VAR_022760 P09172:p.Asp345Asn SP substitution exon 1 VAR_022761 P01024:p.Asp1216Asn SP substitution exon 1 VAR_022762 Q86VQ3:p.Glu341Lys SP substitution exon 1 VAR_022763 Q86VQ3:p.Gly357Asp SP substitution exon 1 VAR_022764 Q86VQ3:p.Ala461Thr SP substitution exon 1 VAR_022765 Q86VQ3:p.Arg487Thr SP substitution exon 1 VAR_022766 Q8N427:p.Cys208Arg SP substitution exon 1 VAR_022767 Q6PKC3:p.Val783Leu SP substitution exon 1 VAR_022768 O75339:p.Trp59Leu SP substitution exon 1 VAR_022769 O75339:p.Ser327Phe SP substitution exon 1 VAR_022770 O75339:p.Ile395Thr SP substitution exon 1 VAR_022771 O75339:p.Lys575Glu SP substitution exon 1 VAR_022772 O75339:p.Ala895Val SP substitution exon 1 VAR_022773 O75339:p.Gln979Arg SP substitution exon 1 VAR_022774 O75339:p.Asp1101Asn SP substitution exon 1 VAR_022775 O75339:p.Gly1166Ser SP substitution exon 1 VAR_022776 O75339:p.Val1168Ala SP substitution exon 1 VAR_022780 O60664:p.Ile56Val SP substitution exon 1 VAR_022781 Q8N865:p.Tyr82Cys SP substitution exon 1 VAR_022782 Q8N865:p.Ala158Thr SP substitution exon 1 VAR_022783 Q8N865:p.Thr187Ser SP substitution exon 1 VAR_022784 Q8N865:p.His300Arg SP substitution exon 1 VAR_022786 Q9Y2D1:p.Pro121Leu SP substitution exon 1 VAR_022787 Q96K76:p.Gly163Val SP substitution exon 1 VAR_022788 Q5UIP0:p.Gly836Ser SP substitution exon 1 VAR_022789 Q5UIP0:p.Val1362Met SP substitution exon 1 VAR_022790 Q5UIP0:p.Arg1686Gly SP substitution exon 1 VAR_022791 Q5UIP0:p.Val1862Ile SP substitution exon 1 VAR_022792 Q5UIP0:p.Asn2021Tyr SP substitution exon 1 VAR_022793 Q5UIP0:p.Met2165Arg SP substitution exon 1 VAR_022794 Q5UIP0:p.Leu2418Val SP substitution exon 1 VAR_022795 Q9GZP7:p.Ile139Thr SP substitution exon 1 VAR_022796 Q9GZP7:p.Ser241Phe SP substitution exon 1 VAR_022797 Q9GZP7:p.Ala269Asp SP substitution exon 1 VAR_022798 Q8NFZ6:p.Cys38Arg SP substitution exon 1 VAR_022799 Q7Z5H5:p.Ala52Val SP substitution exon 1 VAR_022800 Q7Z5H5:p.Arg58Leu SP substitution exon 1 VAR_022801 Q7Z5H5:p.Asp220Asn SP substitution exon 1 VAR_022802 Q7Z5H4:p.Arg350Cys SP substitution exon 1 VAR_022803 Q6TFL3:p.Ile17Asn SP substitution exon 1 VAR_022804 Q6TFL3:p.Ser121Thr SP substitution exon 1 VAR_022805 Q6TFL3:p.Lys1069Arg SP substitution exon 1 VAR_022806 P42768:p.Pro58Leu SP substitution exon 1 VAR_022807 P42768:p.Ala134Thr SP substitution exon 1 VAR_022808 Q9NWS6:p.Val129Leu SP substitution exon 1 VAR_022809 Q9NWS6:p.Arg239His SP substitution exon 1 VAR_022810 Q6ZMV9:p.Trp719Arg SP substitution exon 1 VAR_022811 Q9BVJ6:p.Val487Ala SP substitution exon 1 VAR_022812 Q5TAP6:p.Gly85Val SP substitution exon 1 VAR_022813 Q5TAP6:p.Thr101Ala SP substitution exon 1 VAR_022814 O76027:p.Asp166Gly SP substitution exon 1 VAR_022815 Q7Z494:p.Ser360Thr SP substitution exon 1 VAR_022816 Q7Z494:p.Asn386Ser SP substitution exon 1 VAR_022817 Q7Z494:p.Arg397His SP substitution exon 1 VAR_022818 Q7Z494:p.Leu1141Pro SP substitution exon 1 VAR_022819 Q7Z494:p.Ala1221Val SP substitution exon 1 VAR_022820 Q7Z494:p.Ser1252Arg SP substitution exon 1 VAR_022821 Q7Z494:p.Ser1314Thr SP substitution exon 1 VAR_022822 Q9Y283:p.Pro482Arg SP substitution exon 1 VAR_022823 Q9Y283:p.Leu493Ser SP substitution exon 1 VAR_022824 Q5TD97:p.Val211Met SP substitution exon 1 VAR_022825 Q9BV87:p.Ile262Thr SP substitution exon 1 VAR_022826 Q92562:p.Val654Ala SP substitution exon 1 VAR_022827 Q9NYL2:p.Ser531Leu SP substitution exon 1 VAR_022828 P36894:p.Tyr62Asp SP substitution exon 1 VAR_022829 P36894:p.Cys82Tyr SP substitution exon 1 VAR_022830 P36894:p.Cys130Arg SP substitution exon 1 VAR_022831 P36894:p.Arg443Cys SP substitution exon 1 VAR_022832 P36894:p.Met470Thr SP substitution exon 1 VAR_022833 Q13485:p.Glu330Gly SP substitution exon 1 VAR_022834 Q8N9Y4:p.Ala28Thr SP substitution exon 1 VAR_022836 Q9UNW1:p.Ser41Leu SP substitution exon 1 VAR_022837 Q9UNW1:p.Gln270Arg SP substitution exon 1 VAR_022838 Q96GX5:p.Glu167Asp SP substitution exon 1 VAR_022839 Q96GX5:p.Pro620Ala SP substitution exon 1 VAR_022840 P25874:p.Ala64Thr SP substitution exon 1 VAR_022841 P25874:p.Met229Leu SP substitution exon 1 VAR_022842 Q8WUP2:p.Ser191Phe SP substitution exon 1 VAR_022849 Q96GQ7:p.Gly766Ser SP substitution exon 1 VAR_022850 Q9H9S5:p.Tyr307Asn SP substitution exon 1 VAR_022851 Q9H9S5:p.Pro316Ser SP substitution exon 1 VAR_022852 Q9H9S5:p.Cys318Tyr SP substitution exon 1 VAR_022853 Q9H9S5:p.Asp360Asn SP substitution exon 1 VAR_022854 Q9H9S5:p.Val405Leu SP substitution exon 1 VAR_022855 Q9H9S5:p.Ala455Asp SP substitution exon 1 VAR_022856 Q9H9S5:p.Pro462Ser SP substitution exon 1 VAR_022857 Q7L2Z9:p.Gly63Arg SP substitution exon 1 VAR_022858 Q6ZUB1:p.Thr335Pro SP substitution exon 1 VAR_022859 Q6ZUB1:p.Asp682Glu SP substitution exon 1 VAR_022860 Q6ZUB1:p.Asp704Glu SP substitution exon 1 VAR_022861 Q6ZUB1:p.Asp1202Gly SP substitution exon 1 VAR_022862 Q6ZUB1:p.Arg1350His SP substitution exon 1 VAR_022863 P78312:p.Met192Val SP substitution exon 1 VAR_022866 Q7Z406:p.Ile266Val SP substitution exon 1 VAR_022867 Q7Z406:p.Gly376Cys SP substitution exon 1 VAR_022868 Q7Z406:p.Arg726Ser SP substitution exon 1 VAR_022869 Q7Z406:p.Leu976Phe SP substitution exon 1 VAR_022870 Q7Z406:p.Asn1559Ser SP substitution exon 1 VAR_022871 Q9H9Y2:p.Ser9Gly SP substitution exon 1 VAR_022872 O75027:p.Arg315Gly SP substitution exon 1 VAR_022873 O75027:p.Phe346Ile SP substitution exon 1 VAR_022874 O75027:p.Val411Leu SP substitution exon 1 VAR_022884 Q8ND56:p.Arg448Gln SP substitution exon 1 VAR_022885 Q8NDZ0:p.Phe154Leu SP substitution exon 1 VAR_022886 Q6V0L0:p.Arg245Gln SP substitution exon 1 VAR_022887 Q5T5N4:p.Ile256Met SP substitution exon 1 VAR_022888 Q5T5N4:p.Val363Leu SP substitution exon 1 VAR_022890 Q9UHG0:p.Ser221Gly SP substitution exon 1 VAR_022893 Q68D86:p.Cys346Phe SP substitution exon 1 VAR_022895 P30154:p.Gly8Arg SP substitution exon 1 VAR_022896 P30154:p.Gly15Ala SP substitution exon 1 VAR_022897 P30154:p.Pro65Ser SP substitution exon 1 VAR_022898 P30154:p.Leu101Pro SP substitution exon 1 VAR_022899 P30154:p.Lys343Glu SP substitution exon 1 VAR_022900 P30154:p.Ser365Pro SP substitution exon 1 VAR_022912 Q9H714:p.Gly152Arg SP substitution exon 1 VAR_022913 Q08257:p.Pro66Ser SP substitution exon 1 VAR_022914 Q08257:p.Ile176Val SP substitution exon 1 VAR_022915 P42357:p.Arg206Thr SP substitution exon 1 VAR_022916 P42357:p.Arg208Leu SP substitution exon 1 VAR_022917 P42357:p.Pro259Leu SP substitution exon 1 VAR_022918 P42357:p.Arg322Pro SP substitution exon 1 VAR_022919 P49815:p.Leu1027Pro SP substitution exon 1 VAR_022920 P49815:p.Ser1341Arg SP substitution exon 1 VAR_022921 P49815:p.Asp1636Asn SP substitution exon 1 VAR_022922 P49815:p.Val1673Leu SP substitution exon 1 VAR_022924 O60313:p.Ser158Asn SP substitution exon 1 VAR_022925 O60313:p.Pro167Leu SP substitution exon 1 VAR_022926 O60313:p.Ala192Val SP substitution exon 1 VAR_022927 O60313:p.Leu396Arg SP substitution exon 1 VAR_022928 O60313:p.Thr503Lys SP substitution exon 1 VAR_022929 O60313:p.Arg571His SP substitution exon 1 VAR_022932 O95677:p.Gly277Ser SP substitution exon 1 VAR_022933 P01019:p.Leu43Phe SP substitution exon 1 VAR_022939 Q5SZD1:p.Gln137Glu SP substitution exon 1 VAR_022940 Q8TAP9:p.Met144Val SP substitution exon 1 VAR_022941 P82279:p.Phe144Val SP substitution exon 1 VAR_022942 P82279:p.Val162Met SP substitution exon 1 VAR_022943 P82279:p.Cys195Phe SP substitution exon 1 VAR_022944 P82279:p.Ile205Thr SP substitution exon 1 VAR_022945 P82279:p.Thr289Met SP substitution exon 1 VAR_022946 P82279:p.Cys383Tyr SP substitution exon 1 VAR_022947 P82279:p.Tyr433Cys SP substitution exon 1 VAR_022948 P82279:p.Cys480Gly SP substitution exon 1 VAR_022949 P82279:p.Cys480Arg SP substitution exon 1 VAR_022950 P82279:p.Val578Glu SP substitution exon 1 VAR_022951 P82279:p.Asp584Tyr SP substitution exon 1 VAR_022952 P82279:p.Cys587Tyr SP substitution exon 1 VAR_022953 P82279:p.Gln679Glu SP substitution exon 1 VAR_022954 P82279:p.Cys681Tyr SP substitution exon 1 VAR_022955 P82279:p.Glu710Gln SP substitution exon 1 VAR_022956 P82279:p.Met741Thr SP substitution exon 1 VAR_022958 P82279:p.Arg769His SP substitution exon 1 VAR_022959 P82279:p.Arg769Gln SP substitution exon 1 VAR_022960 P82279:p.Pro836Thr SP substitution exon 1 VAR_022961 P82279:p.Asp837His SP substitution exon 1 VAR_022962 P82279:p.Gly846Arg SP substitution exon 1 VAR_022963 P82279:p.Gly850Ser SP substitution exon 1 VAR_022964 P82279:p.Ile852Thr SP substitution exon 1 VAR_022984 Q5IJ48:p.Pro46Leu SP substitution exon 1 VAR_022985 Q5IJ48:p.Val97Leu SP substitution exon 1 VAR_022986 Q5IJ48:p.Pro116Leu SP substitution exon 1 VAR_022987 Q5IJ48:p.Met145Thr SP substitution exon 1 VAR_022988 Q5IJ48:p.Gly159Ala SP substitution exon 1 VAR_022989 Q5IJ48:p.Glu187Asp SP substitution exon 1 VAR_022990 Q5IJ48:p.Ala351Thr SP substitution exon 1 VAR_022991 Q5IJ48:p.Arg534Gln SP substitution exon 1 VAR_022992 Q5IJ48:p.Arg610Trp SP substitution exon 1 VAR_022993 Q5IJ48:p.His746Gln SP substitution exon 1 VAR_022994 Q5IJ48:p.Thr1110Met SP substitution exon 1 VAR_022996 Q53EZ4:p.Thr99Ala SP substitution exon 1 VAR_022997 Q53EZ4:p.His378Leu SP substitution exon 1 VAR_022998 Q96M53:p.Arg237Gln SP substitution exon 1 VAR_022999 Q96LQ0:p.Thr83Ile SP substitution exon 1 VAR_023000 Q96IL0:p.Pro27Ala SP substitution exon 1 VAR_023001 O14613:p.Asn176Ser SP substitution exon 1 VAR_023002 O14613:p.Ile191Phe SP substitution exon 1 VAR_023003 Q6X4W1:p.Thr480Ala SP substitution exon 1 VAR_023004 P33897:p.Cys88Trp SP substitution exon 1 VAR_023005 P33897:p.Gly343Ser SP substitution exon 1 VAR_023006 P33897:p.Leu503Pro SP substitution exon 1 VAR_023007 P33897:p.Ser514Arg SP substitution exon 1 VAR_023008 O95970:p.Cys42Gly SP substitution exon 1 VAR_023009 O95970:p.Ser473Leu SP substitution exon 1 VAR_023010 P35670:p.Ala14Asp SP substitution exon 1 VAR_023011 P35670:p.Asn41Ser SP substitution exon 1 VAR_023012 P35670:p.Arg616Trp SP substitution exon 1 VAR_023013 P35670:p.Leu641Ser SP substitution exon 1 VAR_023014 P35670:p.Pro690Leu SP substitution exon 1 VAR_023015 P35670:p.Ser693Cys SP substitution exon 1 VAR_023016 P35670:p.Ser721Pro SP substitution exon 1 VAR_023017 P35670:p.Thr737Arg SP substitution exon 1 VAR_023046 O15146:p.Val790Met SP substitution exon 1 VAR_023047 Q7Z3E2:p.Thr85Ile SP substitution exon 1 VAR_023048 Q7Z3E2:p.Arg179Gln SP substitution exon 1 VAR_023049 Q7Z3E2:p.Gln271Lys SP substitution exon 1 VAR_023050 Q7Z3Z2:p.Arg47Cys SP substitution exon 1 VAR_023051 P51797:p.Glu198Gly SP substitution exon 1 VAR_023052 P78385:p.Glu407Lys SP substitution exon 1 VAR_023053 O43790:p.Asn114His SP substitution exon 1 VAR_023054 P05783:p.Thr103Ala SP substitution exon 1 VAR_023055 P05783:p.Ser230Thr SP substitution exon 1 VAR_023056 P05783:p.Arg261Gln SP substitution exon 1 VAR_023057 P05783:p.Gly340Arg SP substitution exon 1 VAR_023058 P05787:p.Gly53Val SP substitution exon 1 VAR_023059 P05787:p.Tyr54Cys SP substitution exon 1 VAR_023060 P05787:p.Gly62Cys SP substitution exon 1 VAR_023061 P05787:p.Ile63Val SP substitution exon 1 VAR_023062 P04259:p.Glu472Lys SP substitution exon 1 VAR_023064 Q9BQG0:p.Gln8Glu SP substitution exon 1 VAR_023067 Q9GZR2:p.Arg141Lys SP substitution exon 1 VAR_023068 Q9GZR2:p.Thr283Ala SP substitution exon 1 VAR_023069 Q14966:p.Ile110Val SP substitution exon 1 VAR_023070 Q14966:p.Asn980Ser SP substitution exon 1 VAR_023073 Q9P1A6:p.Pro419Gln SP substitution exon 1 VAR_023074 Q16531:p.Leu427Phe SP substitution exon 1 VAR_023075 Q6RW13:p.Ala143Val SP substitution exon 1 VAR_023076 Q9BXY0:p.Gln277Arg SP substitution exon 1 VAR_023077 Q96SD1:p.His35Asp SP substitution exon 1 VAR_023078 Q96SD1:p.Gly118Val SP substitution exon 1 VAR_023079 Q96SD1:p.Gly135Glu SP substitution exon 1 VAR_023080 Q9NX58:p.Asp151Tyr SP substitution exon 1 VAR_023082 Q9BYF1:p.Lys26Arg SP substitution exon 1 VAR_023083 Q9BYF1:p.Asn638Ser SP substitution exon 1 VAR_023084 Q6ZWL3:p.Trp44Arg SP substitution exon 1 VAR_023085 Q6ZWL3:p.Gly61Ser SP substitution exon 1 VAR_023086 Q6ZWL3:p.Glu79Asp SP substitution exon 1 VAR_023087 Q6ZWL3:p.Ile111Thr SP substitution exon 1 VAR_023088 Q6ZWL3:p.Met123Val SP substitution exon 1 VAR_023089 Q6ZWL3:p.His331Pro SP substitution exon 1 VAR_023090 Q6ZWL3:p.Ser341Pro SP substitution exon 1 VAR_023091 Q6ZWL3:p.Arg508His SP substitution exon 1 VAR_023092 Q7Z5L2:p.His566Arg SP substitution exon 1 VAR_023093 Q7Z5L2:p.His656Arg SP substitution exon 1 VAR_023094 Q86VQ0:p.Leu24Ser SP substitution exon 1 VAR_023095 Q8IU99:p.Leu86Pro SP substitution exon 1 VAR_023096 Q96BY7:p.Ile1567Thr SP substitution exon 1 VAR_023097 Q86WR7:p.Ala412Val SP substitution exon 1 VAR_023098 Q86XK3:p.Asp19Gly SP substitution exon 1 VAR_023099 Q9Y2L1:p.Asn269Ser SP substitution exon 1 VAR_023100 Q9Y2L1:p.Thr326Arg SP substitution exon 1 VAR_023101 Q8WZA1:p.Glu223Lys SP substitution exon 1 VAR_023102 Q8WZA1:p.Arg265His SP substitution exon 1 VAR_023103 Q8WZA1:p.Cys269Tyr SP substitution exon 1 VAR_023104 Q8WZA1:p.Arg311Gln SP substitution exon 1 VAR_023105 Q8WZA1:p.Trp425Ser SP substitution exon 1 VAR_023106 Q8WZA1:p.Arg442Cys SP substitution exon 1 VAR_023107 Q8WZA1:p.Cys490Tyr SP substitution exon 1 VAR_023108 Q8WZA1:p.Pro493Arg SP substitution exon 1 VAR_023111 Q14914:p.Ala27Ser SP substitution exon 1 VAR_023112 Q8IX21:p.Ser541Tyr SP substitution exon 1 VAR_023113 Q8IX90:p.Thr254Ala SP substitution exon 1 VAR_023114 Q9Y4C8:p.His609Arg SP substitution exon 1 VAR_023115 Q9Y4C8:p.Ile623Thr SP substitution exon 1 VAR_023116 Q9Y4C8:p.Thr665Ala SP substitution exon 1 VAR_023117 Q9Y4C8:p.Arg921Gln SP substitution exon 1 VAR_023118 P50613:p.Gly163Ala SP substitution exon 1 VAR_023119 P50613:p.Thr285Met SP substitution exon 1 VAR_023120 P28715:p.His181Arg SP substitution exon 1 VAR_023121 P28715:p.Glu399Lys SP substitution exon 1 VAR_023122 P28715:p.Val590Ile SP substitution exon 1 VAR_023123 P28715:p.Val597Leu SP substitution exon 1 VAR_023126 P35250:p.Ala232Val SP substitution exon 1 VAR_023127 P98172:p.Pro27Arg SP substitution exon 1 VAR_023128 P98172:p.Pro54Leu SP substitution exon 1 VAR_023129 P98172:p.Ile62Thr SP substitution exon 1 VAR_023130 P98172:p.Leu98Ser SP substitution exon 1 VAR_023131 P98172:p.Thr111Ile SP substitution exon 1 VAR_023132 P98172:p.Gln115Pro SP substitution exon 1 VAR_023133 P98172:p.Pro119His SP substitution exon 1 VAR_023134 P98172:p.Pro119Ser SP substitution exon 1 VAR_023135 P98172:p.Pro119Thr SP substitution exon 1 VAR_023136 P98172:p.Thr137Ala SP substitution exon 1 VAR_023137 P98172:p.Ser138Phe SP substitution exon 1 VAR_023138 P98172:p.Gly151Ser SP substitution exon 1 VAR_023139 P98172:p.Gly151Val SP substitution exon 1 VAR_023140 P98172:p.Cys153Ser SP substitution exon 1 VAR_023141 P98172:p.Cys153Tyr SP substitution exon 1 VAR_023142 P98172:p.Arg154His SP substitution exon 1 VAR_023143 P98172:p.Thr155Pro SP substitution exon 1 VAR_023144 P98172:p.Met158Ile SP substitution exon 1 VAR_023145 P98172:p.Met158Val SP substitution exon 1 VAR_023146 P98172:p.Ser182Arg SP substitution exon 1 VAR_023147 P98172:p.Val189Ala SP substitution exon 1 VAR_023148 Q9UBM7:p.Leu68Pro SP substitution exon 1 VAR_023149 Q9UBM7:p.Gln107His SP substitution exon 1 VAR_023150 Q9UBM7:p.Leu109Pro SP substitution exon 1 VAR_023151 Q9UBM7:p.Ser113Cys SP substitution exon 1 VAR_023152 Q9UBM7:p.Gly138Val SP substitution exon 1 VAR_023153 Q9UBM7:p.Ile145Leu SP substitution exon 1 VAR_023154 Q9UBM7:p.Gly147Asp SP substitution exon 1 VAR_023155 Q9UBM7:p.Thr154Met SP substitution exon 1 VAR_023156 Q9UBM7:p.Ser169Leu SP substitution exon 1 VAR_023157 Q9UBM7:p.Trp182Cys SP substitution exon 1 VAR_023158 Q9UBM7:p.Trp182Leu SP substitution exon 1 VAR_023159 Q9UBM7:p.Cys183Tyr SP substitution exon 1 VAR_023160 Q9UBM7:p.Lys198Glu SP substitution exon 1 VAR_023161 Q9UBM7:p.Phe235Ser SP substitution exon 1 VAR_023162 Q9UBM7:p.Arg242Cys SP substitution exon 1 VAR_023163 Q9UBM7:p.Arg242His SP substitution exon 1 VAR_023164 Q9UBM7:p.Phe255Leu SP substitution exon 1 VAR_023165 Q9UBM7:p.Val281Met SP substitution exon 1 VAR_023166 Q9UBM7:p.Ile297Thr SP substitution exon 1 VAR_023167 Q9UBM7:p.Cys311Gly SP substitution exon 1 VAR_023168 Q9UBM7:p.Cys311Tyr SP substitution exon 1 VAR_023169 Q9UBM7:p.Tyr324His SP substitution exon 1 VAR_023170 Q9UBM7:p.Gly344Arg SP substitution exon 1 VAR_023171 Q9UBM7:p.Arg352Gln SP substitution exon 1 VAR_023172 Q9UBM7:p.Val353Ala SP substitution exon 1 VAR_023173 Q9UBM7:p.Arg362Cys SP substitution exon 1 VAR_023174 Q9UBM7:p.Cys380Arg SP substitution exon 1 VAR_023175 Q9UBM7:p.Cys380Tyr SP substitution exon 1 VAR_023176 Q9UBM7:p.Ser397Leu SP substitution exon 1 VAR_023177 Q9UBM7:p.Arg404Ser SP substitution exon 1 VAR_023178 Q9UBM7:p.His405Tyr SP substitution exon 1 VAR_023179 Q9UBM7:p.Tyr408His SP substitution exon 1 VAR_023180 Q9UBM7:p.Gly410Arg SP substitution exon 1 VAR_023181 Q9UBM7:p.His426Pro SP substitution exon 1 VAR_023182 Q9UBM7:p.Arg443Cys SP substitution exon 1 VAR_023183 Q9UBM7:p.Arg446Gln SP substitution exon 1 VAR_023184 Q9UBM7:p.Glu448Gln SP substitution exon 1 VAR_023185 Q9UBM7:p.Arg450Leu SP substitution exon 1 VAR_023186 Q03692:p.Met27Thr SP substitution exon 1 VAR_023187 Q03692:p.Arg198His SP substitution exon 1 VAR_023188 Q03692:p.Tyr582Asp SP substitution exon 1 VAR_023189 Q03692:p.Gly595Arg SP substitution exon 1 VAR_023190 Q03692:p.Val603Met SP substitution exon 1 VAR_023191 Q03692:p.Trp651Arg SP substitution exon 1 VAR_023192 Q03692:p.Gln653Pro SP substitution exon 1 VAR_023193 Q03692:p.Ser671Pro SP substitution exon 1 VAR_023194 P04798:p.Gly45Asp SP substitution exon 1 VAR_023195 P04798:p.Ile78Thr SP substitution exon 1 VAR_023197 Q9NQ86:p.Lys428Arg SP substitution exon 1 VAR_023198 Q9NQ86:p.Asn456Ser SP substitution exon 1 VAR_023199 Q9BVJ7:p.Gly131Ser SP substitution exon 1 VAR_023200 P78380:p.Lys167Asn SP substitution exon 1 VAR_023201 Q5SZK8:p.Glu1972Lys SP substitution exon 1 VAR_023202 Q5SZK8:p.Arg2066Cys SP substitution exon 1 VAR_023203 Q5SZK8:p.Thr2153Ser SP substitution exon 1 VAR_023204 Q5SZK8:p.Thr2326Ile SP substitution exon 1 VAR_023205 Q8IXX5:p.Arg10Met SP substitution exon 1 VAR_023206 Q8IXX5:p.Ala80Thr SP substitution exon 1 VAR_023207 Q8IXS0:p.Val431Ile SP substitution exon 1 VAR_023210 Q8TCU6:p.Val1240Ile SP substitution exon 1 VAR_023211 Q8TCU6:p.Lys1340Glu SP substitution exon 1 VAR_023212 Q8TCU6:p.Ser1559Thr SP substitution exon 1 VAR_023213 Q8NI51:p.Glu50Gln SP substitution exon 1 VAR_023214 Q8NI51:p.Thr177Ala SP substitution exon 1 VAR_023229 Q8IYX7:p.Lys27Glu SP substitution exon 1 VAR_023230 Q8IYX7:p.Pro63Ser SP substitution exon 1 VAR_023232 O95747:p.Thr304Ile SP substitution exon 1 VAR_023233 Q8N0V3:p.Val122Met SP substitution exon 1 VAR_023234 Q8N0V3:p.Asn245His SP substitution exon 1 VAR_023235 Q8N0V3:p.Lys276Gln SP substitution exon 1 VAR_023236 Q8N9R8:p.Ala37Thr SP substitution exon 1 VAR_023237 Q70Z53:p.Arg16His SP substitution exon 1 VAR_023238 Q70Z53:p.Thr78Arg SP substitution exon 1 VAR_023239 Q9UBH0:p.Asn47Ser SP substitution exon 1 VAR_023240 P02810:p.Ile42Leu SP substitution exon 1 VAR_023242 P02810:p.Arg119Cys SP substitution exon 1 VAR_023243 Q53HV7:p.Gly15Val SP substitution exon 1 VAR_023244 Q53HV7:p.Arg105Trp SP substitution exon 1 VAR_023245 Q15572:p.Ser304Phe SP substitution exon 1 VAR_023246 Q15572:p.Arg357His SP substitution exon 1 VAR_023247 Q15572:p.Ser387Leu SP substitution exon 1 VAR_023248 Q15572:p.His518Tyr SP substitution exon 1 VAR_023256 P49908:p.Pro112Ser SP substitution exon 1 VAR_023257 P49908:p.Ala234Thr SP substitution exon 1 VAR_023258 P49908:p.Arg278Gln SP substitution exon 1 VAR_023259 P49908:p.Ser314Pro SP substitution exon 1 VAR_023260 P49908:p.Arg368Cys SP substitution exon 1 VAR_023261 Q04656:p.Leu706Arg SP substitution exon 1 VAR_023262 Q04656:p.Arg844His SP substitution exon 1 VAR_023263 Q04656:p.Gly853Arg SP substitution exon 1 VAR_023264 Q04656:p.Gly860Val SP substitution exon 1 VAR_023265 Q04656:p.Gly876Arg SP substitution exon 1 VAR_023266 Q04656:p.Gln924Arg SP substitution exon 1 VAR_023267 Q04656:p.Ala1007Val SP substitution exon 1 VAR_023268 Q04656:p.Gly1015Asp SP substitution exon 1 VAR_023269 Q04656:p.Asp1044Gly SP substitution exon 1 VAR_023270 Q04656:p.Leu1100Pro SP substitution exon 1 VAR_023271 Q04656:p.Gly1118Asp SP substitution exon 1 VAR_023272 Q04656:p.Gly1255Arg SP substitution exon 1 VAR_023273 Q04656:p.Lys1282Glu SP substitution exon 1 VAR_023274 Q04656:p.Asn1304Lys SP substitution exon 1 VAR_023275 Q04656:p.Gly1315Arg SP substitution exon 1 VAR_023276 Q04656:p.Ala1325Val SP substitution exon 1 VAR_023277 Q04656:p.Ser1344Arg SP substitution exon 1 VAR_023278 Q04656:p.Ile1345Phe SP substitution exon 1 VAR_023279 Q04656:p.Gly1369Arg SP substitution exon 1 VAR_023280 Q04656:p.Ser1397Phe SP substitution exon 1 VAR_023281 P38484:p.Thr168Asn SP substitution exon 1 VAR_023283 Q8IWV8:p.Ala1095Thr SP substitution exon 1 VAR_023284 Q8IY81:p.Gln91Glu SP substitution exon 1 VAR_023285 Q8IY81:p.Ser424Cys SP substitution exon 1 VAR_023286 Q6PJP8:p.Lys58Glu SP substitution exon 1 VAR_023287 Q6PJP8:p.Glu59Asp SP substitution exon 1 VAR_023288 Q6PJP8:p.Gly71Asp SP substitution exon 1 VAR_023289 Q6PJP8:p.Pro287Leu SP substitution exon 1 VAR_023290 Q6PJP8:p.Asp317His SP substitution exon 1 VAR_023291 Q6PJP8:p.Ile859Phe SP substitution exon 1 VAR_023292 Q9H816:p.Arg46Leu SP substitution exon 1 VAR_023293 Q9H816:p.His61Tyr SP substitution exon 1 VAR_023295 O94761:p.Glu267Asp SP substitution exon 1 VAR_023296 O94761:p.Arg355Gln SP substitution exon 1 VAR_023297 O94761:p.Pro441Ser SP substitution exon 1 VAR_023299 O94761:p.Arg1005Gln SP substitution exon 1 VAR_023300 P15927:p.Tyr14Ser SP substitution exon 1 VAR_023301 P15927:p.Gly15Arg SP substitution exon 1 VAR_023303 P07099:p.Arg43Thr SP substitution exon 1 VAR_023304 P07099:p.Val285Leu SP substitution exon 1 VAR_023305 P07099:p.Thr408Met SP substitution exon 1 VAR_023306 P07099:p.Leu452Gln SP substitution exon 1 VAR_023307 Q9Y5K1:p.Thr36Ala SP substitution exon 1 VAR_023308 P43005:p.Phe50Tyr SP substitution exon 1 VAR_023309 P43005:p.Ala27Gly SP substitution exon 1 VAR_023310 Q5VYX0:p.Glu37Asp SP substitution exon 1 VAR_023311 Q96EK5:p.Gly66Ser SP substitution exon 1 VAR_023312 Q86WB0:p.Thr271Ala SP substitution exon 1 VAR_023313 Q86WB0:p.Arg363His SP substitution exon 1 VAR_023314 Q695T7:p.Arg57Cys SP substitution exon 1 VAR_023315 Q695T7:p.Asp173Asn SP substitution exon 1 VAR_023316 Q695T7:p.Arg240Gln SP substitution exon 1 VAR_023317 Q695T7:p.Leu242Pro SP substitution exon 1 VAR_023318 Q695T7:p.Val252Ile SP substitution exon 1 VAR_023319 Q695T7:p.Glu501Lys SP substitution exon 1 VAR_023320 Q5SW96:p.Ser202His SP substitution exon 1 VAR_023324 O15327:p.Tyr311Phe SP substitution exon 1 VAR_023325 Q9Y6G9:p.Gln277Arg SP substitution exon 1 VAR_023326 P20849:p.Arg870Lys SP substitution exon 1 VAR_023327 P20849:p.Val882Leu SP substitution exon 1 VAR_023328 P07902:p.Arg51Gln SP substitution exon 1 VAR_023329 P07902:p.Ser135Trp SP substitution exon 1 VAR_023330 P07902:p.Lys229Asn SP substitution exon 1 VAR_023331 P07902:p.Gln252His SP substitution exon 1 VAR_023334 Q9NZH6:p.Pro108Leu SP substitution exon 1 VAR_023335 Q9NZH6:p.Arg152Trp SP substitution exon 1 VAR_023336 Q9NZH6:p.Trp164Arg SP substitution exon 1 VAR_023337 Q9NZH6:p.Asp218Asn SP substitution exon 1 VAR_023338 Q9UHC1:p.Arg93Gly SP substitution exon 1 VAR_023339 Q9UHC1:p.Phe120Ser SP substitution exon 1 VAR_023340 Q9UHC1:p.Lys231Gln SP substitution exon 1 VAR_023341 Q9UHC1:p.Val420Ile SP substitution exon 1 VAR_023342 Q9UHC1:p.Leu492Val SP substitution exon 1 VAR_023343 Q9UHC1:p.Arg600Gln SP substitution exon 1 VAR_023344 Q9UHC1:p.Thr606Pro SP substitution exon 1 VAR_023345 Q9UHC1:p.Tyr720Cys SP substitution exon 1 VAR_023346 Q9UHC1:p.Val723Ile SP substitution exon 1 VAR_023347 Q9UHC1:p.Val741Phe SP substitution exon 1 VAR_023348 Q9UHC1:p.Arg797His SP substitution exon 1 VAR_023349 Q9UHC1:p.Pro844Leu SP substitution exon 1 VAR_023350 Q9UHC1:p.Ser845Gly SP substitution exon 1 VAR_023351 Q9UHC1:p.Thr942Ile SP substitution exon 1 VAR_023352 Q9UHC1:p.Ser966Pro SP substitution exon 1 VAR_023353 Q9UHC1:p.Asp1073Asn SP substitution exon 1 VAR_023354 Q9UHC1:p.Asp1105Glu SP substitution exon 1 VAR_023355 Q9UHC1:p.Gly1163Asp SP substitution exon 1 VAR_023356 Q9UHC1:p.Gly1319Arg SP substitution exon 1 VAR_023357 P12830:p.Leu478Pro SP substitution exon 1 VAR_023358 P12830:p.Val832Met SP substitution exon 1 VAR_023359 P12830:p.Glu880Lys SP substitution exon 1 VAR_023360 Q8TDI7:p.Arg123Lys SP substitution exon 1 VAR_023361 Q8TDL5:p.Ser298Pro SP substitution exon 1 VAR_023362 Q8TDL5:p.Ser313Ile SP substitution exon 1 VAR_023363 Q8TD26:p.His2161Gln SP substitution exon 1 VAR_023364 Q9BT22:p.Ser150Arg SP substitution exon 1 VAR_023365 Q9BT22:p.Ser258Leu SP substitution exon 1 VAR_023366 Q9BT22:p.Gln342Pro SP substitution exon 1 VAR_023368 Q9H307:p.Ser671Gly SP substitution exon 1 VAR_023371 P61758:p.Met123Val SP substitution exon 1 VAR_023372 Q9HB96:p.Arg89Leu SP substitution exon 1 VAR_023373 Q9HB96:p.Ser204Leu SP substitution exon 1 VAR_023374 Q9HB96:p.Gly340Arg SP substitution exon 1 VAR_023375 Q9HB96:p.Arg343Gln SP substitution exon 1 VAR_023376 Q9HB96:p.Ala502Thr SP substitution exon 1 VAR_023377 Q9UBC9:p.Leu149Val SP substitution exon 1 VAR_023378 O60294:p.Val67Leu SP substitution exon 1 VAR_023379 O60294:p.Cys149Tyr SP substitution exon 1 VAR_023380 O60294:p.Thr518Ala SP substitution exon 1 VAR_023381 Q5VWP3:p.Val159Ile SP substitution exon 1 VAR_023382 Q5VWP3:p.Ser320Thr SP substitution exon 1 VAR_023383 Q9UQN3:p.Asp148Tyr SP substitution exon 1 VAR_023385 O75351:p.Ile58Met SP substitution exon 1 VAR_023386 Q8N5M1:p.Trp94Arg SP substitution exon 1 VAR_023387 Q8WTS1:p.Glu7Lys SP substitution exon 1 VAR_023388 Q8WTS1:p.Gln130Pro SP substitution exon 1 VAR_023389 Q8WTS1:p.Glu260Lys SP substitution exon 1 VAR_023390 Q9UBZ4:p.Arg141Cys SP substitution exon 1 VAR_023391 Q8N157:p.Val443Asp SP substitution exon 1 VAR_023392 Q969T4:p.Trp201Arg SP substitution exon 1 VAR_023393 Q9UNY4:p.Lys167Glu SP substitution exon 1 VAR_023395 O95571:p.Tyr38Cys SP substitution exon 1 VAR_023396 O95571:p.Thr136Ala SP substitution exon 1 VAR_023397 O95571:p.Arg163Trp SP substitution exon 1 VAR_023398 O95571:p.Leu185Arg SP substitution exon 1 VAR_023399 Q14520:p.Val90Ile SP substitution exon 1 VAR_023400 Q14520:p.Glu393Gln SP substitution exon 1 VAR_023401 Q14520:p.Gly534Glu SP substitution exon 1 VAR_023402 P43681:p.Glu387Gly SP substitution exon 1 VAR_023404 Q8IWA5:p.Gln154Arg SP substitution exon 1 VAR_023405 Q8N4M1:p.Val438Ile SP substitution exon 1 VAR_023410 Q9H6U8:p.Tyr287Cys SP substitution exon 1 VAR_023411 Q9H6U8:p.Val289Ile SP substitution exon 1 VAR_023414 Q9NV92:p.Ala136Val SP substitution exon 1 VAR_023415 Q96PU5:p.Pro355Leu SP substitution exon 1 VAR_023416 Q96PU5:p.Ser497Arg SP substitution exon 1 VAR_023417 Q9H2H8:p.Asp146Glu SP substitution exon 1 VAR_023418 Q9H0B3:p.Leu44Pro SP substitution exon 1 VAR_023419 Q9H0B3:p.Leu235Val SP substitution exon 1 VAR_023420 Q9H0B3:p.Ser285Thr SP substitution exon 1 VAR_023421 Q9H0B3:p.Met359Thr SP substitution exon 1 VAR_023422 Q9H0B3:p.Pro908His SP substitution exon 1 VAR_023423 Q9NS91:p.Glu6Ala SP substitution exon 1 VAR_023424 Q9NS91:p.Arg302Gln SP substitution exon 1 VAR_023425 Q9NS91:p.Ile307Val SP substitution exon 1 VAR_023428 P11511:p.Trp39Arg SP substitution exon 1 VAR_023429 P11511:p.Thr201Met SP substitution exon 1 VAR_023430 P12821:p.Tyr244Cys SP substitution exon 1 VAR_023431 P12821:p.Pro351Leu SP substitution exon 1 VAR_023432 P12821:p.Thr916Met SP substitution exon 1 VAR_023433 P12821:p.Thr1187Met SP substitution exon 1 VAR_023434 P12821:p.Pro1228Leu SP substitution exon 1 VAR_023438 P46100:p.Gln929Glu SP substitution exon 1 VAR_023439 Q9HAW4:p.Asn525Ser SP substitution exon 1 VAR_023440 Q7RTP0:p.Thr45Arg SP substitution exon 1 VAR_023441 Q7RTP0:p.Gly106Arg SP substitution exon 1 VAR_023442 Q9NRG4:p.Gly165Glu SP substitution exon 1 VAR_023443 P08243:p.Val210Glu SP substitution exon 1 VAR_023444 P36551:p.Val135Ala SP substitution exon 1 VAR_023445 P36551:p.Leu214Arg SP substitution exon 1 VAR_023446 P36551:p.Pro249Arg SP substitution exon 1 VAR_023447 Q9Y6H8:p.Pro187Leu SP substitution exon 1 VAR_023448 Q96T76:p.Ala68Gly SP substitution exon 1 VAR_023449 Q96T76:p.Arg98Trp SP substitution exon 1 VAR_023450 Q96T76:p.Val197Ile SP substitution exon 1 VAR_023451 Q96T76:p.Arg306His SP substitution exon 1 VAR_023452 Q96T76:p.Met365Val SP substitution exon 1 VAR_023453 Q96T76:p.Gln409Pro SP substitution exon 1 VAR_023454 Q96T76:p.Gln434Glu SP substitution exon 1 VAR_023455 Q96T76:p.Val526Ile SP substitution exon 1 VAR_023456 Q96T76:p.Ala558Val SP substitution exon 1 VAR_023457 Q96T76:p.Gly790Asp SP substitution exon 1 VAR_023459 P01730:p.Lys191Glu SP substitution exon 1 VAR_023460 P01730:p.Phe227Ser SP substitution exon 1 VAR_023461 P08319:p.Ile309Val SP substitution exon 1 VAR_023462 P08319:p.Arg318His SP substitution exon 1 VAR_023463 P08319:p.Val374Ile SP substitution exon 1 VAR_023464 Q9NRF9:p.Thr83Ala SP substitution exon 1 VAR_023465 Q9NRF9:p.Glu135Asp SP substitution exon 1 VAR_023466 Q02809:p.Trp446Gly SP substitution exon 1 VAR_023467 Q02809:p.Ala667Thr SP substitution exon 1 VAR_023468 Q02809:p.His706Arg SP substitution exon 1 VAR_023469 O60930:p.Leu4Phe SP substitution exon 1 VAR_023470 Q16850:p.Val13Ala SP substitution exon 1 VAR_023471 Q96EY8:p.Ile96Thr SP substitution exon 1 VAR_023472 P22033:p.Ile69Val SP substitution exon 1 VAR_023473 P22033:p.Gln109Arg SP substitution exon 1 VAR_023474 P22033:p.Ala324Thr SP substitution exon 1 VAR_023475 P22033:p.Leu328Pro SP substitution exon 1 VAR_023476 P22033:p.Arg616Cys SP substitution exon 1 VAR_023477 P22033:p.Leu617Arg SP substitution exon 1 VAR_023478 Q8NFM7:p.Thr255Met SP substitution exon 1 VAR_023479 Q8NFM7:p.Val301Met SP substitution exon 1 VAR_023480 Q9BVK2:p.Thr47Pro SP substitution exon 1 VAR_023481 Q9BVK2:p.Asn222Ser SP substitution exon 1 VAR_023482 Q9BVK2:p.Gly275Asp SP substitution exon 1 VAR_023483 Q9BYV1:p.Ser102Asn SP substitution exon 1 VAR_023484 Q9UGI9:p.Pro71Ala SP substitution exon 1 VAR_023485 Q9BSE5:p.Gly105Arg SP substitution exon 1 VAR_023486 P51570:p.Gly36Arg SP substitution exon 1 VAR_023487 P51570:p.His44Tyr SP substitution exon 1 VAR_023488 P51570:p.Arg68Cys SP substitution exon 1 VAR_023489 P51570:p.Ile184Met SP substitution exon 1 VAR_023490 P51570:p.Arg239Gln SP substitution exon 1 VAR_023491 P51570:p.Gly274Asp SP substitution exon 1 VAR_023492 P51570:p.Thr288Met SP substitution exon 1 VAR_023493 P51570:p.Val338Ala SP substitution exon 1 VAR_023494 P51570:p.Gly346Ser SP substitution exon 1 VAR_023495 P51570:p.Gly349Ser SP substitution exon 1 VAR_023496 P51570:p.Ala384Pro SP substitution exon 1 VAR_023497 Q99758:p.Leu101Pro SP substitution exon 1 VAR_023498 Q99758:p.Asn568Asp SP substitution exon 1 VAR_023501 P21439:p.Thr175Ala SP substitution exon 1 VAR_023502 P21439:p.Ser320Phe SP substitution exon 1 VAR_023503 P21439:p.Ala546Asp SP substitution exon 1 VAR_023504 P21439:p.Pro1168Ser SP substitution exon 1 VAR_023505 Q8N159:p.Cys200Arg SP substitution exon 1 VAR_023506 Q8N159:p.Ala279Pro SP substitution exon 1 VAR_023507 Q8N159:p.Ser410Pro SP substitution exon 1 VAR_023508 Q8N159:p.Leu430Pro SP substitution exon 1 VAR_023509 Q8N159:p.Trp484Arg SP substitution exon 1 VAR_023510 Q8N159:p.Ala518Thr SP substitution exon 1 VAR_023511 Q9H0P0:p.Asp137Val SP substitution exon 1 VAR_023512 Q9H0P0:p.Leu181Pro SP substitution exon 1 VAR_023513 Q9H0P0:p.Asn229Ser SP substitution exon 1 VAR_023514 Q9H0P0:p.Gly280Arg SP substitution exon 1 VAR_023515 O43586:p.Gln48His SP substitution exon 1 VAR_023516 O43586:p.Glu106Lys SP substitution exon 1 VAR_023517 O43586:p.Gln146His SP substitution exon 1 VAR_023518 O43586:p.Arg149Leu SP substitution exon 1 VAR_023519 O43586:p.Ala151Ser SP substitution exon 1 VAR_023520 O43586:p.Glu155Asp SP substitution exon 1 VAR_023521 O43586:p.Gln156His SP substitution exon 1 VAR_023522 O43586:p.Ala230Thr SP substitution exon 1 VAR_023523 O43586:p.Glu250Gln SP substitution exon 1 VAR_023524 Q75V66:p.Cys356Gly SP substitution exon 1 VAR_023525 Q75V66:p.Cys356Arg SP substitution exon 1 VAR_023526 Q9NVI7:p.Gly15Asp SP substitution exon 1 VAR_023527 Q9P2E2:p.Val402Met SP substitution exon 1 VAR_023528 Q9P2E2:p.Asp933Glu SP substitution exon 1 VAR_023529 O95497:p.Thr26Ile SP substitution exon 1 VAR_023530 O95498:p.Leu404Met SP substitution exon 1 VAR_023532 P30304:p.Arg182Gly SP substitution exon 1 VAR_023533 P30304:p.Arg182Trp SP substitution exon 1 VAR_023534 O60759:p.Asp37Asn SP substitution exon 1 VAR_023536 Q16878:p.Thr45Ile SP substitution exon 1 VAR_023537 P11532:p.Lys18Asn SP substitution exon 1 VAR_023538 P11532:p.Asp165Val SP substitution exon 1 VAR_023539 P11532:p.Ala171Pro SP substitution exon 1 VAR_023540 P11532:p.Thr279Ala SP substitution exon 1 VAR_023541 P11532:p.Asp645Gly SP substitution exon 1 VAR_023542 P11532:p.Asn1672Lys SP substitution exon 1 VAR_023543 P11532:p.Asn2299Thr SP substitution exon 1 VAR_023548 Q9HB63:p.Tyr205His SP substitution exon 1 VAR_023549 Q8WTT2:p.Pro194Leu SP substitution exon 1 VAR_023550 Q8WTT2:p.Glu472Ala SP substitution exon 1 VAR_023552 P51608:p.Asp97Glu SP substitution exon 1 VAR_023553 P51608:p.Leu100Arg SP substitution exon 1 VAR_023554 P51608:p.Pro101Ser SP substitution exon 1 VAR_023555 P51608:p.Tyr120Asp SP substitution exon 1 VAR_023556 P51608:p.Phe155Ile SP substitution exon 1 VAR_023557 P51608:p.Thr158Ala SP substitution exon 1 VAR_023558 P51608:p.Gly161Val SP substitution exon 1 VAR_023559 P51608:p.Pro388Leu SP substitution exon 1 VAR_023560 O76039:p.Cys152Phe SP substitution exon 1 VAR_023561 O76039:p.Arg175Ser SP substitution exon 1 VAR_023562 O76039:p.Gln791Pro SP substitution exon 1 VAR_023563 P20813:p.Gln21Leu SP substitution exon 1 VAR_023564 P20813:p.Met46Val SP substitution exon 1 VAR_023565 P20813:p.Gly99Glu SP substitution exon 1 VAR_023566 P20813:p.Arg140Gln SP substitution exon 1 VAR_023567 P20813:p.Ile391Asn SP substitution exon 1 VAR_023568 Q92806:p.Ala366Val SP substitution exon 1 VAR_023569 Q9BZS1:p.Ile363Val SP substitution exon 1 VAR_023570 P51690:p.Ile80Asn SP substitution exon 1 VAR_023571 P51690:p.Thr481Met SP substitution exon 1 VAR_023572 P51690:p.Pro578Ser SP substitution exon 1 VAR_023573 O00522:p.Phe97Ser SP substitution exon 1 VAR_023575 Q9BSQ5:p.Val53Ile SP substitution exon 1 VAR_023576 Q9BSQ5:p.Val120Ile SP substitution exon 1 VAR_023577 Q9BSQ5:p.Leu198Arg SP substitution exon 1 VAR_023578 Q9BUL8:p.Asp102Ala SP substitution exon 1 VAR_023579 P42263:p.Phe525Leu SP substitution exon 1 VAR_023580 Q96A28:p.Ile127Leu SP substitution exon 1 VAR_023581 P51811:p.Glu327Lys SP substitution exon 1 VAR_023582 Q9UEF7:p.Pro15Gln SP substitution exon 1 VAR_023583 Q9UEF7:p.Phe45Val SP substitution exon 1 VAR_023584 Q9UEF7:p.Phe352Val SP substitution exon 1 VAR_023585 Q9UEF7:p.Cys370Ser SP substitution exon 1 VAR_023586 Q6UWM7:p.Ala240Thr SP substitution exon 1 VAR_023587 Q9H227:p.Asp106Asn SP substitution exon 1 VAR_023588 Q9H227:p.Arg213Pro SP substitution exon 1 VAR_023589 Q9H227:p.Cys354Arg SP substitution exon 1 VAR_023590 Q13501:p.Ala117Val SP substitution exon 1 VAR_023591 Q13501:p.Glu274Gln SP substitution exon 1 VAR_023599 Q6KF10:p.Lys110Glu SP substitution exon 1 VAR_023600 Q9Y251:p.Asn260Ser SP substitution exon 1 VAR_023601 Q8WWQ2:p.Tyr579Phe SP substitution exon 1 VAR_023602 Q9BUT1:p.Asn70Ser SP substitution exon 1 VAR_023603 Q86X45:p.Thr232Ile SP substitution exon 1 VAR_023604 P42771:p.Leu94Gln SP substitution exon 1 VAR_023605 P29033:p.Arg32His SP substitution exon 1 VAR_023607 P29033:p.Leu79Pro SP substitution exon 1 VAR_023608 P29033:p.Gln80Lys SP substitution exon 1 VAR_023609 P29033:p.Met93Ile SP substitution exon 1 VAR_023611 P29033:p.Glu129Lys SP substitution exon 1 VAR_023612 P29033:p.Val167Met SP substitution exon 1 VAR_023613 P29033:p.Val178Ala SP substitution exon 1 VAR_023614 P29033:p.Arg184Gln SP substitution exon 1 VAR_023615 P29033:p.Ala197Ser SP substitution exon 1 VAR_023616 P29033:p.Ile203Lys SP substitution exon 1 VAR_023617 P29033:p.Leu214Pro SP substitution exon 1 VAR_023618 Q9UDT6:p.Arg977Pro SP substitution exon 1 VAR_023619 Q5JVL4:p.Pro77Thr SP substitution exon 1 VAR_023620 Q5JVL4:p.Arg159Trp SP substitution exon 1 VAR_023621 Q5JVL4:p.Arg182His SP substitution exon 1 VAR_023622 Q5JVL4:p.Asp210Asn SP substitution exon 1 VAR_023623 Q5JVL4:p.Arg221His SP substitution exon 1 VAR_023624 Q5JVL4:p.Phe229Leu SP substitution exon 1 VAR_023625 Q5JVL4:p.Asp253Tyr SP substitution exon 1 VAR_023626 Q5JVL4:p.Ile619Leu SP substitution exon 1 VAR_023627 Q6P5W5:p.Ala58Thr SP substitution exon 1 VAR_023628 Q6P5W5:p.Pro84Leu SP substitution exon 1 VAR_023629 Q6P5W5:p.Arg95Cys SP substitution exon 1 VAR_023630 Q6P5W5:p.Asn106Lys SP substitution exon 1 VAR_023631 Q6P5W5:p.Ala114Thr SP substitution exon 1 VAR_023632 Q6P5W5:p.Pro200Leu SP substitution exon 1 VAR_023633 Q6P5W5:p.Arg251Trp SP substitution exon 1 VAR_023634 Q6P5W5:p.Gln303His SP substitution exon 1 VAR_023635 Q6P5W5:p.Cys309Tyr SP substitution exon 1 VAR_023636 Q6P5W5:p.Gly330Asp SP substitution exon 1 VAR_023637 Q6P5W5:p.Thr357Ala SP substitution exon 1 VAR_023638 Q6P5W5:p.Leu372Pro SP substitution exon 1 VAR_023643 Q12794:p.Glu268Lys SP substitution exon 1 VAR_023644 Q8IZP2:p.Ser71Leu SP substitution exon 1 VAR_023647 Q96RR1:p.Arg303Trp SP substitution exon 1 VAR_023648 Q96RR1:p.Trp315Leu SP substitution exon 1 VAR_023649 Q96RR1:p.Lys319Glu SP substitution exon 1 VAR_023650 Q96RR1:p.Lys319Thr SP substitution exon 1 VAR_023651 Q96RR1:p.Arg334Gln SP substitution exon 1 VAR_023652 Q96RR1:p.Pro335Leu SP substitution exon 1 VAR_023653 Q96RR1:p.Arg354Pro SP substitution exon 1 VAR_023654 Q96RR1:p.Ala359Thr SP substitution exon 1 VAR_023655 Q96RR1:p.Ile367Thr SP substitution exon 1 VAR_023656 Q96RR1:p.Val368Ile SP substitution exon 1 VAR_023657 Q96RR1:p.Ser369Pro SP substitution exon 1 VAR_023658 Q96RR1:p.Ser369Tyr SP substitution exon 1 VAR_023659 Q96RR1:p.Arg374Gln SP substitution exon 1 VAR_023660 Q96RR1:p.Leu381Pro SP substitution exon 1 VAR_023661 Q96RR1:p.Trp474Cys SP substitution exon 1 VAR_023662 Q96RR1:p.Ala475Pro SP substitution exon 1 VAR_023663 P54098:p.Arg227Trp SP substitution exon 1 VAR_023664 P54098:p.Thr251Ile SP substitution exon 1 VAR_023665 P54098:p.Arg309Leu SP substitution exon 1 VAR_023666 P54098:p.Trp312Arg SP substitution exon 1 VAR_023667 P54098:p.Gly431Val SP substitution exon 1 VAR_023668 P54098:p.Asn468Asp SP substitution exon 1 VAR_023669 P54098:p.Gln497His SP substitution exon 1 VAR_023670 P54098:p.Arg579Trp SP substitution exon 1 VAR_023671 P54098:p.Pro587Leu SP substitution exon 1 VAR_023672 P54098:p.Arg627Trp SP substitution exon 1 VAR_023673 P54098:p.Trp748Ser SP substitution exon 1 VAR_023674 P54098:p.Tyr831Cys SP substitution exon 1 VAR_023675 P54098:p.Gly848Ser SP substitution exon 1 VAR_023676 P54098:p.Asn864Ser SP substitution exon 1 VAR_023677 P54098:p.Ala889Thr SP substitution exon 1 VAR_023678 P54098:p.Gly923Asp SP substitution exon 1 VAR_023679 P54098:p.His932Tyr SP substitution exon 1 VAR_023680 P54098:p.Arg943His SP substitution exon 1 VAR_023681 P54098:p.Arg953Cys SP substitution exon 1 VAR_023682 P54098:p.Ala957Ser SP substitution exon 1 VAR_023683 P54098:p.Arg1047Gln SP substitution exon 1 VAR_023684 P54098:p.Gly1051Arg SP substitution exon 1 VAR_023685 P54098:p.Gly1076Val SP substitution exon 1 VAR_023686 P54098:p.Arg1096Cys SP substitution exon 1 VAR_023687 P54098:p.Ser1104Cys SP substitution exon 1 VAR_023688 P54098:p.Ala1105Thr SP substitution exon 1 VAR_023689 P54098:p.Val1106Ile SP substitution exon 1 VAR_023690 P54098:p.Ser1176Leu SP substitution exon 1 VAR_023691 Q9H2K8:p.Ser47Asn SP substitution exon 1 VAR_023692 O14958:p.Thr66Ala SP substitution exon 1 VAR_023693 O14958:p.Val76Met SP substitution exon 1 VAR_023694 Q92736:p.Val2306Ile SP substitution exon 1 VAR_023695 Q92736:p.Pro4902Leu SP substitution exon 1 VAR_023696 Q92736:p.Arg4959Gln SP substitution exon 1 VAR_023697 Q8IYD8:p.Ser175Phe SP substitution exon 1 VAR_023698 Q8IYD8:p.Val878Leu SP substitution exon 1 VAR_023700 Q9BX63:p.Gln255His SP substitution exon 1 VAR_023701 Q9BX63:p.Arg264Trp SP substitution exon 1 VAR_023702 Q9BX63:p.Ala349Pro SP substitution exon 1 VAR_023703 Q9BX63:p.Trp647Cys SP substitution exon 1 VAR_023704 Q9BX63:p.Arg707Cys SP substitution exon 1 VAR_023705 Q96LD8:p.Thr207Ala SP substitution exon 1 VAR_023706 P48552:p.His221Arg SP substitution exon 1 VAR_023707 P48552:p.Ile441Val SP substitution exon 1 VAR_023708 P48552:p.Arg448Gly SP substitution exon 1 VAR_023709 P48552:p.Ser803Leu SP substitution exon 1 VAR_023710 P48552:p.Val1079Phe SP substitution exon 1 VAR_023711 Q8IX01:p.Gly206Ser SP substitution exon 1 VAR_023712 O14986:p.Ala415Thr SP substitution exon 1 VAR_023713 Q9BUP3:p.Arg106Ser SP substitution exon 1 VAR_023714 Q9BUP3:p.Asp108Tyr SP substitution exon 1 VAR_023715 Q9BUP3:p.Ala116Thr SP substitution exon 1 VAR_023716 Q9BUP3:p.Gly134Val SP substitution exon 1 VAR_023717 Q9BUP3:p.Leu144Ile SP substitution exon 1 VAR_023718 Q9BUP3:p.Ser197Arg SP substitution exon 1 VAR_023719 P02533:p.Met119Val SP substitution exon 1 VAR_023720 P02533:p.Asn123Lys SP substitution exon 1 VAR_023721 P02533:p.Arg125Gly SP substitution exon 1 VAR_023722 P02533:p.Leu130Pro SP substitution exon 1 VAR_023723 P02533:p.Val133Leu SP substitution exon 1 VAR_023724 P02533:p.Leu408Met SP substitution exon 1 VAR_023725 P02533:p.Ala413Thr SP substitution exon 1 VAR_023726 P13647:p.Lys404Glu SP substitution exon 1 VAR_023727 P13647:p.Ala438Asp SP substitution exon 1 VAR_023728 P13647:p.Glu475Lys SP substitution exon 1 VAR_023737 Q14032:p.Met76Val SP substitution exon 1 VAR_023738 Q6UW49:p.Gly191Glu SP substitution exon 1 VAR_023739 Q495M9:p.Leu48Pro SP substitution exon 1 VAR_023740 Q6EEV6:p.Met55Val SP substitution exon 1 VAR_023741 Q6NV75:p.Arg209His SP substitution exon 1 VAR_023742 Q969Q4:p.Ser22Leu SP substitution exon 1 VAR_023743 Q969Q4:p.Pro131Leu SP substitution exon 1 VAR_023744 Q969Q4:p.Cys148Arg SP substitution exon 1 VAR_023745 Q969Q4:p.Glu164Lys SP substitution exon 1 VAR_023746 Q15072:p.Arg8Lys SP substitution exon 1 VAR_023747 O95786:p.Arg7Cys SP substitution exon 1 VAR_023748 O95786:p.Asp580Glu SP substitution exon 1 VAR_023749 Q01638:p.Ala78Glu SP substitution exon 1 VAR_023750 O60503:p.Ile772Met SP substitution exon 1 VAR_023751 Q9Y490:p.Ser1227Leu SP substitution exon 1 VAR_023752 Q9Y490:p.Arg1919Trp SP substitution exon 1 VAR_023753 Q5I7T1:p.Ile446Val SP substitution exon 1 VAR_023754 Q5T442:p.Pro90Ser SP substitution exon 1 VAR_023755 Q5T442:p.Tyr272Asp SP substitution exon 1 VAR_023756 Q5T442:p.Met286Thr SP substitution exon 1 VAR_023757 Q6W5P4:p.Asn107Ile SP substitution exon 1 VAR_023760 Q6XZB0:p.Cys55Tyr SP substitution exon 1 VAR_023761 Q6XZB0:p.Gly364Glu SP substitution exon 1 VAR_023764 Q96HD1:p.Arg107His SP substitution exon 1 VAR_023765 Q96HD1:p.Pro162Ala SP substitution exon 1 VAR_023766 Q96HD1:p.Thr311Ile SP substitution exon 1 VAR_023767 Q96HD1:p.Arg329Cys SP substitution exon 1 VAR_023768 P27987:p.Ser408Ala SP substitution exon 1 VAR_023770 Q02846:p.Cys105Tyr SP substitution exon 1 VAR_023771 Q02846:p.Leu325Pro SP substitution exon 1 VAR_023772 Q15397:p.Arg289Pro SP substitution exon 1 VAR_023773 Q15397:p.Val297Leu SP substitution exon 1 VAR_023774 Q15398:p.Gly69Glu SP substitution exon 1 VAR_023775 O75164:p.Ala482Glu SP substitution exon 1 VAR_023776 Q8TDY2:p.Met234Thr SP substitution exon 1 VAR_023777 Q9HAD4:p.Val329Ile SP substitution exon 1 VAR_023778 P78383:p.Arg81His SP substitution exon 1 VAR_023779 Q96HC4:p.Ser136Phe SP substitution exon 1 VAR_023782 Q9HD23:p.Pro35Ser SP substitution exon 1 VAR_023783 Q6P1M0:p.Gly209Ser SP substitution exon 1 VAR_023784 Q6ZVD7:p.Arg18Pro SP substitution exon 1 VAR_023785 Q6ZVD7:p.Tyr153His SP substitution exon 1 VAR_023786 Q6ZVD7:p.Glu608Asp SP substitution exon 1 VAR_023787 Q6ZVD7:p.Asn825Ile SP substitution exon 1 VAR_023788 P21802:p.Lys526Glu SP substitution exon 1 VAR_023789 Q16854:p.Leu250Ser SP substitution exon 1 VAR_023790 O00142:p.Thr64Met SP substitution exon 1 VAR_023793 O95409:p.Gln36Pro SP substitution exon 1 VAR_023794 O95409:p.Asp152Phe SP substitution exon 1 VAR_023797 O95343:p.Val92Gly SP substitution exon 1 VAR_023798 O95343:p.Ile105Val SP substitution exon 1 VAR_023799 O95343:p.His173Pro SP substitution exon 1 VAR_023800 O95343:p.Thr202Ile SP substitution exon 1 VAR_023801 O95343:p.Pro231Arg SP substitution exon 1 VAR_023802 O95343:p.Arg257Trp SP substitution exon 1 VAR_023803 Q15583:p.Gln236Leu SP substitution exon 1 VAR_023804 Q15465:p.Arg6Thr SP substitution exon 1 VAR_023806 Q15465:p.Ala110Asp SP substitution exon 1 VAR_023807 Q15465:p.Thr150Arg SP substitution exon 1 VAR_023809 Q15465:p.Leu271Pro SP substitution exon 1 VAR_023810 Q15465:p.Val332Ala SP substitution exon 1 VAR_023811 Q15465:p.Pro347Gln SP substitution exon 1 VAR_023812 Q15465:p.Ile354Thr SP substitution exon 1 VAR_023814 P15924:p.Arg1255Lys SP substitution exon 1 VAR_023815 P15924:p.Arg1738Gln SP substitution exon 1 VAR_023816 P15924:p.Arg1775Ile SP substitution exon 1 VAR_023817 Q92539:p.Ser734Leu SP substitution exon 1 VAR_023819 O00238:p.Ile200Lys SP substitution exon 1 VAR_023820 O00238:p.Arg486Trp SP substitution exon 1 VAR_023821 Q12791:p.Asp434Gly SP substitution exon 1 VAR_023822 Q9HC29:p.Asp382Glu SP substitution exon 1 VAR_023823 Q9HC29:p.Glu383Lys SP substitution exon 1 VAR_023824 Q9HC29:p.His496Leu SP substitution exon 1 VAR_023825 O75914:p.Arg67Cys SP substitution exon 1 VAR_023826 O75914:p.Ala380Glu SP substitution exon 1 VAR_023827 O94804:p.Lys277Glu SP substitution exon 1 VAR_023828 P10721:p.Asp816Tyr SP substitution exon 1 VAR_023829 P10721:p.Asn822Lys SP substitution exon 1 VAR_023830 P10721:p.Ala829Pro SP substitution exon 1 VAR_023831 Q9GZV9:p.Ser71Gly SP substitution exon 1 VAR_023832 Q9NPG8:p.Val53Met SP substitution exon 1 VAR_023833 Q96GR4:p.Pro69Ser SP substitution exon 1 VAR_023834 Q96GR4:p.Gln172Leu SP substitution exon 1 VAR_023835 Q8IUH4:p.Lys99Arg SP substitution exon 1 VAR_023836 P08603:p.Val62Ile SP substitution exon 1 VAR_023837 Q5VV43:p.Thr142Pro SP substitution exon 1 VAR_023838 Q5VV43:p.Ala311Thr SP substitution exon 1 VAR_023839 P46091:p.Ile307Val SP substitution exon 1 VAR_023840 Q12809:p.Asn588Lys SP substitution exon 1 VAR_023841 P51787:p.Val307Leu SP substitution exon 1 VAR_023842 P63252:p.Asp172Asn SP substitution exon 1 VAR_023843 P05165:p.Gly197Glu SP substitution exon 1 VAR_023844 P05165:p.Cys398Arg SP substitution exon 1 VAR_023846 P05165:p.Val551Phe SP substitution exon 1 VAR_023847 P05166:p.Arg67Ser SP substitution exon 1 VAR_023848 P05166:p.Val107Met SP substitution exon 1 VAR_023849 P05166:p.Gly112Asp SP substitution exon 1 VAR_023850 P05166:p.Ala153Pro SP substitution exon 1 VAR_023851 P05166:p.Arg165Gln SP substitution exon 1 VAR_023852 P05166:p.Gly188Arg SP substitution exon 1 VAR_023853 P05166:p.Gly246Val SP substitution exon 1 VAR_023855 P05166:p.Ile430Leu SP substitution exon 1 VAR_023856 P05166:p.Tyr435Cys SP substitution exon 1 VAR_023857 P05166:p.Tyr439Cys SP substitution exon 1 VAR_023858 P05166:p.Ala468Thr SP substitution exon 1 VAR_023916 Q9NZC7:p.Pro98Leu SP substitution exon 1 VAR_023917 Q9NZC7:p.Thr111Ser SP substitution exon 1 VAR_023918 Q9NZC7:p.Arg120Trp SP substitution exon 1 VAR_023919 Q9NZC7:p.Ala179Thr SP substitution exon 1 VAR_023920 Q9NZC7:p.Leu272Phe SP substitution exon 1 VAR_023921 Q9NZC7:p.Pro282Ala SP substitution exon 1 VAR_023922 Q9NZC7:p.Leu291Pro SP substitution exon 1 VAR_023924 P13646:p.Leu111Pro SP substitution exon 1 VAR_023925 P02458:p.Gly318Arg SP substitution exon 1 VAR_023926 P02458:p.Gly516Asp SP substitution exon 1 VAR_023927 P02458:p.Arg565Cys SP substitution exon 1 VAR_023928 P02458:p.Leu667Phe SP substitution exon 1 VAR_023929 P02458:p.Gly717Ser SP substitution exon 1 VAR_023930 P02458:p.Gly855Ser SP substitution exon 1 VAR_023931 P02458:p.Gly897Val SP substitution exon 1 VAR_023932 P02458:p.Arg992Gly SP substitution exon 1 VAR_023933 P02458:p.Gly1170Ser SP substitution exon 1 VAR_023934 P02458:p.Gly1305Asp SP substitution exon 1 VAR_023935 P02458:p.Tyr1391Cys SP substitution exon 1 VAR_023936 Q6V9R5:p.Phe178Leu SP substitution exon 1 VAR_023937 Q6V9R5:p.Lys205Glu SP substitution exon 1 VAR_023938 Q8N9K5:p.Ile188Thr SP substitution exon 1 VAR_023939 P49792:p.Arg784Lys SP substitution exon 1 VAR_023940 Q8TDS5:p.Leu407Val SP substitution exon 1 VAR_023941 Q9GZQ4:p.Ser298Thr SP substitution exon 1 VAR_023942 Q9GZQ4:p.Phe315Leu SP substitution exon 1 VAR_023943 Q9GZQ4:p.Met388Val SP substitution exon 1 VAR_023944 Q9GZQ4:p.Ala395Thr SP substitution exon 1 VAR_023945 Q8TBC4:p.Lys9Arg SP substitution exon 1 VAR_023946 P01031:p.Thr389Ile SP substitution exon 1 VAR_023948 P49683:p.Ile283Val SP substitution exon 1 VAR_023953 Q7Z3V5:p.Gln189His SP substitution exon 1 VAR_023954 Q7Z3V5:p.Glu252Asp SP substitution exon 1 VAR_023955 Q7Z3V5:p.Leu573His SP substitution exon 1 VAR_023956 Q9H609:p.Pro81Leu SP substitution exon 1 VAR_023958 Q01968:p.Pro526Leu SP substitution exon 1 VAR_023960 P78345:p.Glu88Asp SP substitution exon 1 VAR_023961 P78345:p.Ala114Val SP substitution exon 1 VAR_023962 P78345:p.Ala181Gly SP substitution exon 1 VAR_023963 Q7Z403:p.Trp125Arg SP substitution exon 1 VAR_023964 Q8IU68:p.Asn306Ile SP substitution exon 1 VAR_023965 Q96RU7:p.Gln84Arg SP substitution exon 1 VAR_023966 Q5T6X5:p.Pro91Ser SP substitution exon 1 VAR_023967 O95497:p.Ala63Thr SP substitution exon 1 VAR_023968 O95497:p.Asn131Ser SP substitution exon 1 VAR_023969 O95497:p.Val136Leu SP substitution exon 1 VAR_023970 O95497:p.Asp146Asn SP substitution exon 1 VAR_023971 O95497:p.Glu296Asp SP substitution exon 1 VAR_023972 O95497:p.Ala325Glu SP substitution exon 1 VAR_023973 O95497:p.Thr336Ala SP substitution exon 1 VAR_023974 O95497:p.Ile373Thr SP substitution exon 1 VAR_023976 P47989:p.Glu133Lys SP substitution exon 1 VAR_023977 P47989:p.Gly172Arg SP substitution exon 1 VAR_023978 P47989:p.Thr235Met SP substitution exon 1 VAR_023979 P47989:p.Lys395Met SP substitution exon 1 VAR_023980 P47989:p.Pro555Ser SP substitution exon 1 VAR_023981 P47989:p.Asp584Ala SP substitution exon 1 VAR_023982 P47989:p.Arg607Gln SP substitution exon 1 VAR_023983 P47989:p.Lys617Asn SP substitution exon 1 VAR_023984 P47989:p.Thr623Ile SP substitution exon 1 VAR_023985 P47989:p.Ile646Val SP substitution exon 1 VAR_023986 P47989:p.Ile703Val SP substitution exon 1 VAR_023987 P47989:p.Thr910Met SP substitution exon 1 VAR_023988 P47989:p.Val1091Leu SP substitution exon 1 VAR_023989 P47989:p.Asn1109Thr SP substitution exon 1 VAR_023990 P47989:p.Arg1176Cys SP substitution exon 1 VAR_023991 P47989:p.Arg1296Trp SP substitution exon 1 VAR_023995 P05164:p.Val53Phe SP substitution exon 1 VAR_023996 P05164:p.Arg604Cys SP substitution exon 1 VAR_023997 P05164:p.Glu683Gln SP substitution exon 1 VAR_023998 P55851:p.Arg76Gln SP substitution exon 1 VAR_023999 P55851:p.Arg154Gln SP substitution exon 1 VAR_024000 P55851:p.Ala268Gly SP substitution exon 1 VAR_024001 P55851:p.Ser282Cys SP substitution exon 1 VAR_024002 Q08830:p.Thr15Ile SP substitution exon 1 VAR_024003 Q08830:p.Ile72Val SP substitution exon 1 VAR_024004 Q08830:p.Pro105Leu SP substitution exon 1 VAR_024005 Q08830:p.Tyr111His SP substitution exon 1 VAR_024006 Q08830:p.Thr121Ser SP substitution exon 1 VAR_024007 Q08830:p.Tyr140Phe SP substitution exon 1 VAR_024008 O75112:p.Val55Ile SP substitution exon 1 VAR_024009 O75112:p.Ser189Leu SP substitution exon 1 VAR_024010 O75112:p.Thr206Ile SP substitution exon 1 VAR_024011 O75112:p.Ile345Met SP substitution exon 1 VAR_024014 Q99732:p.Tyr23His SP substitution exon 1 VAR_024015 Q99732:p.Thr49Met SP substitution exon 1 VAR_024016 Q99732:p.Ile92Val SP substitution exon 1 VAR_024017 Q99732:p.Gly112Ser SP substitution exon 1 VAR_024018 Q99732:p.Thr115Asn SP substitution exon 1 VAR_024019 Q99732:p.Trp116Gly SP substitution exon 1 VAR_024020 Q99732:p.Leu122Val SP substitution exon 1 VAR_024021 Q07820:p.Glu173Asp SP substitution exon 1 VAR_024022 Q07820:p.Ala227Val SP substitution exon 1 VAR_024023 Q92954:p.Arg180Trp SP substitution exon 1 VAR_024024 Q71F56:p.Glu251Gly SP substitution exon 1 VAR_024025 Q71F56:p.Arg1872His SP substitution exon 1 VAR_024026 Q71F56:p.Asp2023Gly SP substitution exon 1 VAR_024027 O14836:p.Cys104Arg SP substitution exon 1 VAR_024028 O14836:p.Ala181Gly SP substitution exon 1 VAR_024029 O14836:p.Arg202His SP substitution exon 1 VAR_024030 Q9H251:p.Ala366Thr SP substitution exon 1 VAR_024031 Q9H251:p.Thr1209Ala SP substitution exon 1 VAR_024032 Q9H251:p.Arg1507Gln SP substitution exon 1 VAR_024033 Q9H251:p.Arg3189Trp SP substitution exon 1 VAR_024034 Q9H251:p.Ser3245Phe SP substitution exon 1 VAR_024035 Q96QU1:p.Arg134Gly SP substitution exon 1 VAR_024036 Q96QU1:p.Gly262Asp SP substitution exon 1 VAR_024037 Q96QU1:p.Gln1342Lys SP substitution exon 1 VAR_024039 Q13402:p.Ala26Glu SP substitution exon 1 VAR_024040 Q13402:p.Val67Met SP substitution exon 1 VAR_024041 Q13402:p.Arg90Pro SP substitution exon 1 VAR_024042 Q13402:p.Ile134Asn SP substitution exon 1 VAR_024043 Q13402:p.Thr165Met SP substitution exon 1 VAR_024044 Q13402:p.Arg241Cys SP substitution exon 1 VAR_024046 Q13402:p.Ala457Val SP substitution exon 1 VAR_024047 Q13402:p.Gly519Asp SP substitution exon 1 VAR_024048 Q13402:p.Arg756Trp SP substitution exon 1 VAR_024049 Q13402:p.Glu968Asp SP substitution exon 1 VAR_024051 Q13402:p.Arg1743Trp SP substitution exon 1 VAR_024052 Q13402:p.Leu1858Pro SP substitution exon 1 VAR_024053 Q13402:p.Arg1883Gln SP substitution exon 1 VAR_024054 Q13402:p.Pro1887Leu SP substitution exon 1 VAR_024055 Q13402:p.Gly2187Asp SP substitution exon 1 VAR_024056 Q53GS7:p.Gly130Asp SP substitution exon 1 VAR_024057 Q53GS7:p.Ile243Val SP substitution exon 1 VAR_024059 Q96NB3:p.His99Gln SP substitution exon 1 VAR_024060 Q96NB3:p.Ser154Thr SP substitution exon 1 VAR_024061 Q96BI1:p.Arg86Cys SP substitution exon 1 VAR_024062 Q96BI1:p.Ser233Phe SP substitution exon 1 VAR_024063 Q96BI1:p.Arg309Gln SP substitution exon 1 VAR_024065 Q8IYB3:p.Arg170His SP substitution exon 1 VAR_024066 P51681:p.Ile12Leu SP substitution exon 1 VAR_024067 P51681:p.Cys20Ser SP substitution exon 1 VAR_024068 P51681:p.Ile42Phe SP substitution exon 1 VAR_024069 P51681:p.Ala73Val SP substitution exon 1 VAR_024070 P51681:p.Ser215Leu SP substitution exon 1 VAR_024072 Q6IA86:p.Thr128Pro SP substitution exon 1 VAR_024073 Q6IA86:p.Val305Met SP substitution exon 1 VAR_024074 Q6IA86:p.His359Arg SP substitution exon 1 VAR_024075 Q6IA86:p.Glu795Gly SP substitution exon 1 VAR_024076 Q6IA86:p.His806Pro SP substitution exon 1 VAR_024077 Q15413:p.Arg261Ser SP substitution exon 1 VAR_024078 Q15413:p.Val494Ile SP substitution exon 1 VAR_024079 Q16836:p.Ala40Thr SP substitution exon 1 VAR_024080 Q16836:p.Asp57Glu SP substitution exon 1 VAR_024081 Q16836:p.Pro258Leu SP substitution exon 1 VAR_024082 Q6P1J9:p.Leu64Pro SP substitution exon 1 VAR_024083 P33261:p.Ser51Gly SP substitution exon 1 VAR_024084 P33261:p.Ala161Pro SP substitution exon 1 VAR_024085 P33261:p.Arg329His SP substitution exon 1 VAR_024086 O43749:p.Phe75Ser SP substitution exon 1 VAR_024087 Q8NGR8:p.Thr27Pro SP substitution exon 1 VAR_024088 Q8NGR8:p.Arg211Pro SP substitution exon 1 VAR_024089 Q8NGS0:p.Pro18Ser SP substitution exon 1 VAR_024090 P58173:p.Gln270Arg SP substitution exon 1 VAR_024091 Q8NGJ1:p.Asp96Gly SP substitution exon 1 VAR_024092 Q8NGJ1:p.Ser151Thr SP substitution exon 1 VAR_024093 Q8NGJ1:p.Met263Thr SP substitution exon 1 VAR_024094 Q8NH43:p.Arg52Ser SP substitution exon 1 VAR_024095 Q8IXE1:p.Asn191Asp SP substitution exon 1 VAR_024096 Q8NGJ0:p.Asp183Asn SP substitution exon 1 VAR_024097 Q8NGI9:p.Pro172Leu SP substitution exon 1 VAR_024098 Q8NGI8:p.Leu289Phe SP substitution exon 1 VAR_024099 Q8NGL4:p.Cys62Tyr SP substitution exon 1 VAR_024100 Q8NGL4:p.Arg124His SP substitution exon 1 VAR_024101 Q13606:p.Phe76Ser SP substitution exon 1 VAR_024102 Q8NH85:p.Ile7Thr SP substitution exon 1 VAR_024103 Q8NH85:p.Cys122Arg SP substitution exon 1 VAR_024104 Q8NH85:p.Phe184Leu SP substitution exon 1 VAR_024105 Q8NH85:p.Ala274Val SP substitution exon 1 VAR_024106 Q8NGY5:p.Ala10Thr SP substitution exon 1 VAR_024107 Q8NGY5:p.Ile194Thr SP substitution exon 1 VAR_024108 Q8NGY5:p.Gln261Arg SP substitution exon 1 VAR_024109 Q8NGY5:p.Arg293His SP substitution exon 1 VAR_024110 Q8NH79:p.Thr190Asn SP substitution exon 1 VAR_024111 O76099:p.Val126Ile SP substitution exon 1 VAR_024112 O76099:p.Ser210Pro SP substitution exon 1 VAR_024113 Q8NG99:p.Phe281Val SP substitution exon 1 VAR_024114 Q8NG95:p.Met29Val SP substitution exon 1 VAR_024115 Q96RC9:p.Tyr131His SP substitution exon 1 VAR_024116 Q8WZ84:p.Leu194Pro SP substitution exon 1 VAR_024117 Q9GZM6:p.Arg122His SP substitution exon 1 VAR_024118 Q8NGM9:p.Arg133Lys SP substitution exon 1 VAR_024119 Q8NGM9:p.Phe200Leu SP substitution exon 1 VAR_024120 Q8NGM9:p.Leu283Pro SP substitution exon 1 VAR_024121 Q8NGM9:p.Arg298Lys SP substitution exon 1 VAR_024122 Q8N146:p.Ile201Val SP substitution exon 1 VAR_024123 Q8NH51:p.Leu122Arg SP substitution exon 1 VAR_024124 Q9H209:p.Arg262Gln SP substitution exon 1 VAR_024125 Q8NGE0:p.Tyr279His SP substitution exon 1 VAR_024126 Q8NGN6:p.Thr5Ser SP substitution exon 1 VAR_024127 Q9Y4A9:p.Gly16Arg SP substitution exon 1 VAR_024128 O60404:p.Arg7Ser SP substitution exon 1 VAR_024129 Q8NGQ4:p.Glu12Asp SP substitution exon 1 VAR_024130 Q8NGC7:p.Leu32Val SP substitution exon 1 VAR_024131 Q8NGS6:p.Lys293Thr SP substitution exon 1 VAR_024132 Q8NGS8:p.Cys189Tyr SP substitution exon 1 VAR_024133 Q8NGS8:p.Met258Thr SP substitution exon 1 VAR_024134 Q8NGS8:p.Ile282Val SP substitution exon 1 VAR_024135 Q8NGS8:p.Met290Thr SP substitution exon 1 VAR_024136 Q8NGT0:p.Glu24Asp SP substitution exon 1 VAR_024137 Q8NGS4:p.Met101Val SP substitution exon 1 VAR_024138 Q8NGJ7:p.Gly59Glu SP substitution exon 1 VAR_024139 Q8NGJ7:p.Met288Thr SP substitution exon 1 VAR_024140 Q8NH64:p.Glu8Lys SP substitution exon 1 VAR_024141 Q9Y5P0:p.Val36Ile SP substitution exon 1 VAR_024142 Q9H343:p.Ala252Ser SP substitution exon 1 VAR_024143 Q9H344:p.Arg263His SP substitution exon 1 VAR_024144 Q8NH59:p.Val211Met SP substitution exon 1 VAR_024145 Q8NGJ8:p.Leu178Arg SP substitution exon 1 VAR_024146 Q9H346:p.Ile251Thr SP substitution exon 1 VAR_024147 Q8NGH9:p.Val176Ile SP substitution exon 1 VAR_024148 Q8NGH9:p.Arg184Met SP substitution exon 1 VAR_024149 Q8NH53:p.Arg167Cys SP substitution exon 1 VAR_024150 Q8NGI0:p.Ser249Ala SP substitution exon 1 VAR_024151 Q8NGI0:p.His264Arg SP substitution exon 1 VAR_024152 Q8NH54:p.Met51Thr SP substitution exon 1 VAR_024153 Q8NH76:p.Pro277Ser SP substitution exon 1 VAR_024154 Q9NYZ3:p.Trp506Arg SP substitution exon 1 VAR_024155 O75330:p.Arg92Cys SP substitution exon 1 VAR_024156 O75330:p.Arg332His SP substitution exon 1 VAR_024157 O75330:p.Ala484Val SP substitution exon 1 VAR_024158 Q9NQG7:p.Leu443Val SP substitution exon 1 VAR_024160 Q8TC41:p.Val89Ile SP substitution exon 1 VAR_024161 P46013:p.Ile631Leu SP substitution exon 1 VAR_024162 P46013:p.Leu854Val SP substitution exon 1 VAR_024163 P46013:p.Gly1042Ser SP substitution exon 1 VAR_024168 Q9UQQ2:p.Trp262Arg SP substitution exon 1 VAR_024169 Q99616:p.Ala5Ser SP substitution exon 1 VAR_024170 O00408:p.Thr224Ile SP substitution exon 1 VAR_024172 Q9NU02:p.Leu324Gln SP substitution exon 1 VAR_024173 Q6UB98:p.Lys906Arg SP substitution exon 1 VAR_024174 Q8WXJ9:p.Ser2Asn SP substitution exon 1 VAR_024175 Q8WWH4:p.Lys216Thr SP substitution exon 1 VAR_024176 Q8TC84:p.Leu329Val SP substitution exon 1 VAR_024177 O60237:p.Arg836Lys SP substitution exon 1 VAR_024178 Q8WW38:p.Ala403Gly SP substitution exon 1 VAR_024179 Q96MN2:p.Ala144Thr SP substitution exon 1 VAR_024180 Q86W24:p.Glu808Lys SP substitution exon 1 VAR_024181 O60906:p.Arg265Ser SP substitution exon 1 VAR_024182 P17066:p.Leu198Phe SP substitution exon 1 VAR_024183 P17066:p.Asp562Glu SP substitution exon 1 VAR_024184 Q9NYW4:p.Arg213Gln SP substitution exon 1 VAR_024185 Q9NYW3:p.Met304Ile SP substitution exon 1 VAR_024186 Q9NYW2:p.Met308Val SP substitution exon 1 VAR_024187 P59544:p.Cys203Tyr SP substitution exon 1 VAR_024188 Q92523:p.Ser427Cys SP substitution exon 1 VAR_024189 O95755:p.Asn308Asp SP substitution exon 1 VAR_024190 Q8NHY6:p.Ala620Val SP substitution exon 1 VAR_024191 P17097:p.Gly188Arg SP substitution exon 1 VAR_024192 Q06732:p.Arg145Cys SP substitution exon 1 VAR_024193 P17020:p.Glu105Lys SP substitution exon 1 VAR_024194 P17020:p.Arg227His SP substitution exon 1 VAR_024195 P17027:p.Ser28Gly SP substitution exon 1 VAR_024196 Q9NQZ8:p.Val105Ile SP substitution exon 1 VAR_024197 Q8IZC7:p.Met121Leu SP substitution exon 1 VAR_024198 Q14929:p.Pro72Leu SP substitution exon 1 VAR_024199 Q14929:p.Arg381Cys SP substitution exon 1 VAR_024200 Q9UL58:p.Met119Val SP substitution exon 1 VAR_024201 Q9UK13:p.Ala337Pro SP substitution exon 1 VAR_024202 Q9UK13:p.Ser519Thr SP substitution exon 1 VAR_024203 Q9UK13:p.Gly557Arg SP substitution exon 1 VAR_024204 Q9NZL3:p.His162Leu SP substitution exon 1 VAR_024205 Q16600:p.Ala172Gly SP substitution exon 1 VAR_024206 Q16600:p.Cys209Gly SP substitution exon 1 VAR_024207 Q9HBT7:p.Lys274Thr SP substitution exon 1 VAR_024208 Q9BRR0:p.Arg3Thr SP substitution exon 1 VAR_024209 Q96LW9:p.Lys205Arg SP substitution exon 1 VAR_024210 Q96JL9:p.Ala251Glu SP substitution exon 1 VAR_024211 Q9H4Z2:p.Ser294Thr SP substitution exon 1 VAR_024212 Q9H116:p.Gln275Pro SP substitution exon 1 VAR_024213 Q9Y3M9:p.Val17Ile SP substitution exon 1 VAR_024214 Q9BUY5:p.Ala4Val SP substitution exon 1 VAR_024215 Q9NX65:p.Tyr120His SP substitution exon 1 VAR_024217 Q9H7R0:p.Pro110Thr SP substitution exon 1 VAR_024218 Q9H7R0:p.Arg443Cys SP substitution exon 1 VAR_024219 Q96CX3:p.Met17Val SP substitution exon 1 VAR_024220 Q8TBZ5:p.Glu243Ala SP substitution exon 1 VAR_024221 O75626:p.Asp203Glu SP substitution exon 1 VAR_024222 Q96PE6:p.Arg7Lys SP substitution exon 1 VAR_024223 Q96PE6:p.Glu28Lys SP substitution exon 1 VAR_024224 Q96PE6:p.Asn157Asp SP substitution exon 1 VAR_024225 Q96PE6:p.Ile379Val SP substitution exon 1 VAR_024226 Q96KM6:p.Met372Val SP substitution exon 1 VAR_024227 Q96KM6:p.Ala453Thr SP substitution exon 1 VAR_024228 P78333:p.Ala155Val SP substitution exon 1 VAR_024229 Q9Y625:p.Val412Met SP substitution exon 1 VAR_024230 P55103:p.Arg322Gln SP substitution exon 1 VAR_024231 O75610:p.Asp322Ala SP substitution exon 1 VAR_024232 P12643:p.Arg190Ser SP substitution exon 1 VAR_024233 O75496:p.Asn18Thr SP substitution exon 1 VAR_024234 Q9NU22:p.Phe440Val SP substitution exon 1 VAR_024235 Q9NU22:p.Ser1559Asn SP substitution exon 1 VAR_024236 Q9NU22:p.Ala4044Ser SP substitution exon 1 VAR_024237 Q99551:p.Ala294Thr SP substitution exon 1 VAR_024238 Q9C000:p.Thr246Ser SP substitution exon 1 VAR_024239 Q9C000:p.Val1059Met SP substitution exon 1 VAR_024240 P20929:p.Asp5030Val SP substitution exon 1 VAR_024241 Q8N4T0:p.Phe45Leu SP substitution exon 1 VAR_024242 P38935:p.Leu201Ser SP substitution exon 1 VAR_024243 P38935:p.Ile275Val SP substitution exon 1 VAR_024244 P49902:p.Thr3Ala SP substitution exon 1 VAR_024245 P02750:p.Pro133Ser SP substitution exon 1 VAR_024248 Q9Y2D5:p.Leu561Ser SP substitution exon 1 VAR_024250 Q13796:p.Leu1607Phe SP substitution exon 1 VAR_024251 O75363:p.Gly255Glu SP substitution exon 1 VAR_024252 O00590:p.Tyr373Ser SP substitution exon 1 VAR_024253 O00574:p.Glu3Lys SP substitution exon 1 VAR_024254 P21918:p.Val238Ile SP substitution exon 1 VAR_024255 P24530:p.Arg76Met SP substitution exon 1 VAR_024256 Q15760:p.Val189Ile SP substitution exon 1 VAR_024257 Q9Y2T6:p.Gly195Val SP substitution exon 1 VAR_024258 Q96P69:p.Arg201Ser SP substitution exon 1 VAR_024259 Q8IZ08:p.Gln5Pro SP substitution exon 1 VAR_024260 P43119:p.Val25Met SP substitution exon 1 VAR_024261 Q8TCW9:p.Ser40Gly SP substitution exon 1 VAR_024262 P13385:p.Val22Ala SP substitution exon 1 VAR_024263 Q08431:p.Met76Leu SP substitution exon 1 VAR_024264 P14543:p.Val246Ile SP substitution exon 1 VAR_024265 O75094:p.Gly618Ser SP substitution exon 1 VAR_024266 P24821:p.Gln539Arg SP substitution exon 1 VAR_024267 P24821:p.Val605Ile SP substitution exon 1 VAR_024268 P24821:p.Gln680Arg SP substitution exon 1 VAR_024269 Q9UQP3:p.Pro930Leu SP substitution exon 1 VAR_024271 P01135:p.Val109Met SP substitution exon 1 VAR_024272 O94762:p.Asp480Gly SP substitution exon 1 VAR_024277 Q15011:p.Arg50His SP substitution exon 1 VAR_024278 Q9NS68:p.Ser31Thr SP substitution exon 1 VAR_024279 Q9NS68:p.Val405Ile SP substitution exon 1 VAR_024280 P27540:p.Arg430Gln SP substitution exon 1 VAR_024281 Q14190:p.Leu483Met SP substitution exon 1 VAR_024282 O75602:p.Gln216Arg SP substitution exon 1 VAR_024283 Q9Y228:p.Gln373Glu SP substitution exon 1 VAR_024284 P82094:p.Asp798His SP substitution exon 1 VAR_024285 O15085:p.His1427Arg SP substitution exon 1 VAR_024286 Q6ZV73:p.Gln257Arg SP substitution exon 1 VAR_024287 Q9NZM3:p.Thr254Ala SP substitution exon 1 VAR_024288 Q9NZM3:p.Val291Ile SP substitution exon 1 VAR_024289 P06756:p.Ile405Val SP substitution exon 1 VAR_024290 P18084:p.Leu428Val SP substitution exon 1 VAR_024291 P12544:p.Met121Thr SP substitution exon 1 VAR_024292 P98073:p.Asn660His SP substitution exon 1 VAR_024293 Q9NRS4:p.Arg177Gln SP substitution exon 1 VAR_024294 Q04756:p.Arg509His SP substitution exon 1 VAR_024295 Q04756:p.Arg644Gln SP substitution exon 1 VAR_024296 Q9UBX7:p.Arg166Cys SP substitution exon 1 VAR_024297 P49069:p.Val78Ile SP substitution exon 1 VAR_024298 Q9BV87:p.Leu292Pro SP substitution exon 1 VAR_024299 Q9BV87:p.Pro366Leu SP substitution exon 1 VAR_024300 Q9BV87:p.Leu383Pro SP substitution exon 1 VAR_024301 Q99440:p.Asn15Lys SP substitution exon 1 VAR_024302 P08571:p.Asn204Asp SP substitution exon 1 VAR_024303 Q7L2Z9:p.Asp266Gly SP substitution exon 1 VAR_024306 Q9NRH1:p.Lys68Glu SP substitution exon 1 VAR_024307 O43734:p.His332Gln SP substitution exon 1 VAR_024308 Q9H943:p.Met510Thr SP substitution exon 1 VAR_024309 Q9NVR5:p.Asp768Gly SP substitution exon 1 VAR_024310 Q9NVL8:p.Tyr235Cys SP substitution exon 1 VAR_024311 Q9NRM1:p.Phe576Leu SP substitution exon 1 VAR_024312 Q9NRM1:p.Ile648Thr SP substitution exon 1 VAR_024313 Q9NRM1:p.Arg763Gln SP substitution exon 1 VAR_024314 Q9NVQ4:p.Ala117Thr SP substitution exon 1 VAR_024315 Q9NVQ4:p.Leu127Ser SP substitution exon 1 VAR_024316 Q8N441:p.Pro464Leu SP substitution exon 1 VAR_024317 P57678:p.Ala579Gly SP substitution exon 1 VAR_024318 Q14739:p.Ser154Asn SP substitution exon 1 VAR_024319 P45877:p.Asn190Ser SP substitution exon 1 VAR_024320 Q3T8J9:p.Met1418Val SP substitution exon 1 VAR_024322 P0CG37:p.Arg78Trp SP substitution exon 1 VAR_024323 P0CG37:p.Arg112Cys SP substitution exon 1 VAR_024324 P0CG37:p.Arg189Cys SP substitution exon 1 VAR_024325 Q70YC5:p.Ala337Ser SP substitution exon 1 VAR_024326 Q70YC4:p.Thr62Ala SP substitution exon 1 VAR_024327 Q9H1M3:p.Thr149Ser SP substitution exon 1 VAR_024328 P01286:p.Leu75Phe SP substitution exon 1 VAR_024329 Q9Y581:p.Phe80Leu SP substitution exon 1 VAR_024330 Q7Z408:p.His538Arg SP substitution exon 1 VAR_024331 Q9H501:p.Ile550Thr SP substitution exon 1 VAR_024332 Q9UJQ7:p.Pro99Ser SP substitution exon 1 VAR_024333 Q9NX31:p.Val74Gly SP substitution exon 1 VAR_024334 Q96LM9:p.Lys141Glu SP substitution exon 1 VAR_024335 Q14118:p.Ser14Trp SP substitution exon 1 VAR_024336 Q9UJW0:p.Phe342Leu SP substitution exon 1 VAR_024337 Q9UJW0:p.Ser438Asn SP substitution exon 1 VAR_024338 O75140:p.Ser491Thr SP substitution exon 1 VAR_024341 Q92733:p.Pro136Ser SP substitution exon 1 VAR_024342 Q14213:p.Val201Ile SP substitution exon 1 VAR_024343 Q16853:p.Arg329Gln SP substitution exon 1 VAR_024344 Q7Z5J4:p.Pro165Thr SP substitution exon 1 VAR_024345 Q9HAU5:p.Asn496Ser SP substitution exon 1 VAR_024346 Q9Y3V2:p.Asn86Lys SP substitution exon 1 VAR_024347 Q9Y6X0:p.Val231Leu SP substitution exon 1 VAR_024348 Q9BYH1:p.Trp185Leu SP substitution exon 1 VAR_024349 Q9NP31:p.Asn52Ser SP substitution exon 1 VAR_024350 P08185:p.Ser246Ala SP substitution exon 1 VAR_024351 P29508:p.Gly351Ala SP substitution exon 1 VAR_024352 P29508:p.Thr357Ala SP substitution exon 1 VAR_024353 P48595:p.Ile41Met SP substitution exon 1 VAR_024354 P48595:p.Ile99Thr SP substitution exon 1 VAR_024355 P48595:p.Pro140Ser SP substitution exon 1 VAR_024357 O75830:p.Glu148Gly SP substitution exon 1 VAR_024358 P20742:p.Ile1443Asn SP substitution exon 1 VAR_024359 P21439:p.Arg788Gln SP substitution exon 1 VAR_024360 Q92887:p.Thr1273Ala SP substitution exon 1 VAR_024361 P24046:p.His27Arg SP substitution exon 1 VAR_024362 Q9Y615:p.Val340Met SP substitution exon 1 VAR_024363 O75843:p.Ser377Phe SP substitution exon 1 VAR_024364 P40394:p.Gly92Ala SP substitution exon 1 VAR_024365 Q96IZ2:p.Val202Ile SP substitution exon 1 VAR_024366 Q9BQE5:p.Arg182Cys SP substitution exon 1 VAR_024367 P40617:p.Arg139Lys SP substitution exon 1 VAR_024368 Q14161:p.Asn387Ser SP substitution exon 1 VAR_024369 Q8IZT6:p.Arg430Gly SP substitution exon 1 VAR_024370 Q9H0Y0:p.Ser62Pro SP substitution exon 1 VAR_024371 Q9P241:p.Ser1389Thr SP substitution exon 1 VAR_024372 Q9H503:p.Asn3Asp SP substitution exon 1 VAR_024373 Q12923:p.Glu1625Lys SP substitution exon 1 VAR_024374 Q12923:p.Tyr2081Asp SP substitution exon 1 VAR_024375 Q14254:p.Ala328Thr SP substitution exon 1 VAR_024376 O15553:p.Gln440Glu SP substitution exon 1 VAR_024377 Q9BXK5:p.Ile55Val SP substitution exon 1 VAR_024379 Q9BQS7:p.Ala595Thr SP substitution exon 1 VAR_024380 P00451:p.Arg795Gly SP substitution exon 1 VAR_024381 Q8WUM4:p.Ser730Leu SP substitution exon 1 VAR_024383 Q9NR63:p.Leu264Ser SP substitution exon 1 VAR_024385 Q02413:p.Asn493Thr SP substitution exon 1 VAR_024386 Q02413:p.Thr498Asn SP substitution exon 1 VAR_024387 Q86SJ6:p.Ile644Leu SP substitution exon 1 VAR_024388 Q02487:p.Ile776Val SP substitution exon 1 VAR_024389 Q9Y5H9:p.Val106Leu SP substitution exon 1 VAR_024390 Q9UN74:p.Pro184Ser SP substitution exon 1 VAR_024391 Q9Y5E6:p.Lys41Arg SP substitution exon 1 VAR_024392 Q9UN66:p.Ala322Val SP substitution exon 1 VAR_024393 Q9UN66:p.Phe767Leu SP substitution exon 1 VAR_024394 Q9Y5F6:p.Asp570Gly SP substitution exon 1 VAR_024395 Q9NRC6:p.Arg1367Thr SP substitution exon 1 VAR_024396 Q9NRC6:p.Gln2862Arg SP substitution exon 1 VAR_024397 Q9NRC6:p.Ala3275Gly SP substitution exon 1 VAR_024398 P13796:p.Lys533Glu SP substitution exon 1 VAR_024400 O14967:p.Ala160Ser SP substitution exon 1 VAR_024401 Q9BXL6:p.Arg547Ser SP substitution exon 1 VAR_024402 Q9HC29:p.Arg790Gln SP substitution exon 1 VAR_024403 P51878:p.Phe29Leu SP substitution exon 1 VAR_024404 P51878:p.Arg168His SP substitution exon 1 VAR_024405 P51878:p.Val217Leu SP substitution exon 1 VAR_024406 Q9Y235:p.Ile136Thr SP substitution exon 1 VAR_024407 P55265:p.Tyr587Cys SP substitution exon 1 VAR_024408 Q9H211:p.Ala537Val SP substitution exon 1 VAR_024409 P51801:p.Lys578Glu SP substitution exon 1 VAR_024410 Q01118:p.Ile407Val SP substitution exon 1 VAR_024411 Q8WWG9:p.Asp145Glu SP substitution exon 1 VAR_024412 Q9BRQ6:p.Ala95Ser SP substitution exon 1 VAR_024413 O75829:p.Val175Ile SP substitution exon 1 VAR_024414 P05060:p.Lys117Asn SP substitution exon 1 VAR_024415 P05060:p.Thr243Ala SP substitution exon 1 VAR_024416 P05060:p.Ala353Gly SP substitution exon 1 VAR_024417 P56748:p.Thr129Ala SP substitution exon 1 VAR_024418 Q9NQW8:p.Ile307Val SP substitution exon 1 VAR_024419 Q14993:p.Ala352Gly SP substitution exon 1 VAR_024420 P04003:p.Ile300Thr SP substitution exon 1 VAR_024421 Q15021:p.Gln83Glu SP substitution exon 1 VAR_024422 Q15021:p.Val797Met SP substitution exon 1 VAR_024423 Q99829:p.Gln211Arg SP substitution exon 1 VAR_024424 O75131:p.Thr412Met SP substitution exon 1 VAR_024425 Q9H114:p.Trp88Arg SP substitution exon 1 VAR_024426 Q9H114:p.Thr96Met SP substitution exon 1 VAR_024427 P04196:p.Gly436Arg SP substitution exon 1 VAR_024428 P04196:p.Arg448Cys SP substitution exon 1 VAR_024429 P04196:p.Asn493Ile SP substitution exon 1 VAR_024430 P49619:p.Arg316Lys SP substitution exon 1 VAR_024431 O95045:p.Arg10Ser SP substitution exon 1 VAR_024432 Q9UK85:p.Ala29Thr SP substitution exon 1 VAR_024433 Q96LL9:p.Gly34Arg SP substitution exon 1 VAR_024434 P24855:p.Arg2Ser SP substitution exon 1 VAR_024435 P24855:p.Gly127Arg SP substitution exon 1 VAR_024436 Q9UBZ9:p.Ala1003Thr SP substitution exon 1 VAR_024437 Q99848:p.Arg223His SP substitution exon 1 VAR_024438 Q14152:p.Glu386Lys SP substitution exon 1 VAR_024439 Q99502:p.Pro20Ala SP substitution exon 1 VAR_024440 Q9UKT4:p.Gln107Glu SP substitution exon 1 VAR_024441 Q86XK2:p.Thr126Ser SP substitution exon 1 VAR_024442 Q8IX29:p.Met254Ile SP substitution exon 1 VAR_024443 Q8TB52:p.Val375Met SP substitution exon 1 VAR_024444 Q8N4B4:p.Pro10Ser SP substitution exon 1 VAR_024445 Q8N4B4:p.Leu231Phe SP substitution exon 1 VAR_024446 Q8N4B4:p.Ile363Met SP substitution exon 1 VAR_024447 Q6P3S6:p.Pro471Ala SP substitution exon 1 VAR_024448 O00757:p.Val86Leu SP substitution exon 1 VAR_024449 Q9UGM5:p.Gly202Ser SP substitution exon 1 VAR_024450 O00602:p.Tyr126His SP substitution exon 1 VAR_024451 Q96C23:p.Asn190Tyr SP substitution exon 1 VAR_024452 P06307:p.Arg95Trp SP substitution exon 1 VAR_024453 O43182:p.Asp791Glu SP substitution exon 1 VAR_024454 Q8IWW6:p.Phe442Ser SP substitution exon 1 VAR_024455 P36269:p.Ile475Val SP substitution exon 1 VAR_024456 Q9NZM5:p.Ser16Arg SP substitution exon 1 VAR_024457 O15488:p.His313Arg SP substitution exon 1 VAR_024458 Q13231:p.Ala442Gly SP substitution exon 1 VAR_024459 Q12889:p.Met477Thr SP substitution exon 1 VAR_024460 Q12889:p.His604Gln SP substitution exon 1 VAR_024461 Q9Y3R4:p.Ser11Arg SP substitution exon 1 VAR_024462 Q9Y3R4:p.Arg41Gln SP substitution exon 1 VAR_024463 P51993:p.Pro124Ser SP substitution exon 1 VAR_024464 P51993:p.Gln230Lys SP substitution exon 1 VAR_024465 Q9Y231:p.Thr237Ala SP substitution exon 1 VAR_024466 Q9BV10:p.Ile393Val SP substitution exon 1 VAR_024468 O43286:p.Gly61Ser SP substitution exon 1 VAR_024471 O14653:p.Arg67Lys SP substitution exon 1 VAR_024472 Q9BY15:p.Glu127Gln SP substitution exon 1 VAR_024473 Q8IZF7:p.Gln148Arg SP substitution exon 1 VAR_024474 Q8IZF7:p.Ile467Val SP substitution exon 1 VAR_024475 Q8IZF5:p.Ala404Thr SP substitution exon 1 VAR_024476 Q8IZF3:p.Lys541Asn SP substitution exon 1 VAR_024477 Q8IZF2:p.Met856Thr SP substitution exon 1 VAR_024478 Q86SQ4:p.Lys230Gln SP substitution exon 1 VAR_024479 Q9NYQ6:p.Ile2107Val SP substitution exon 1 VAR_024480 Q9NYQ6:p.Thr2268Ala SP substitution exon 1 VAR_024481 Q9HCU4:p.Tyr1639His SP substitution exon 1 VAR_024482 Q13255:p.Val929Ile SP substitution exon 1 VAR_024483 Q7RTV2:p.Val55Ile SP substitution exon 1 VAR_024484 P78417:p.Glu208Lys SP substitution exon 1 VAR_024485 O94993:p.Val749Met SP substitution exon 1 VAR_024487 Q9P2E3:p.Met1259Ile SP substitution exon 1 VAR_024488 P13646:p.Ala146Gly SP substitution exon 1 VAR_024489 P35900:p.Ser129Asn SP substitution exon 1 VAR_024490 O76013:p.Ala119Val SP substitution exon 1 VAR_024491 O76013:p.Gln126Arg SP substitution exon 1 VAR_024492 Q12934:p.Gly345Ser SP substitution exon 1 VAR_024493 P06731:p.Lys398Glu SP substitution exon 1 VAR_024494 Q14002:p.Phe120Ile SP substitution exon 1 VAR_024495 P43146:p.Met1017Val SP substitution exon 1 VAR_024496 Q9P2B2:p.Val837Ile SP substitution exon 1 VAR_024497 O95998:p.Arg121Gln SP substitution exon 1 VAR_024499 Q6PJG9:p.Val340Ala SP substitution exon 1 VAR_024501 Q96PQ1:p.His217Gln SP substitution exon 1 VAR_024502 Q9BZZ2:p.Val221Met SP substitution exon 1 VAR_024503 P12018:p.Asp76Asn SP substitution exon 1 VAR_024504 Q9UHA7:p.Gln12Arg SP substitution exon 1 VAR_024505 Q9NZH8:p.Gln69Lys SP substitution exon 1 VAR_024506 Q8IU54:p.Asn188Asp SP substitution exon 1 VAR_024508 P01562:p.Val10Ala SP substitution exon 1 VAR_024509 Q14500:p.Arg6Gln SP substitution exon 1 VAR_024510 Q9NPI9:p.Ile11Val SP substitution exon 1 VAR_024511 Q00341:p.Asn418Ser SP substitution exon 1 VAR_024512 Q92667:p.Val60Met SP substitution exon 1 VAR_024513 Q9HAQ2:p.Arg638Trp SP substitution exon 1 VAR_024514 P29322:p.Glu612Gln SP substitution exon 1 VAR_024515 Q8N4F0:p.Lys31Met SP substitution exon 1 VAR_024516 Q8NFQ6:p.Val269Ala SP substitution exon 1 VAR_024517 Q8NFQ6:p.Ser451Pro SP substitution exon 1 VAR_024518 Q8NFQ5:p.Val97Ile SP substitution exon 1 VAR_024519 P01130:p.Ala391Thr SP substitution exon 1 VAR_024520 O75581:p.Val1062Ile SP substitution exon 1 VAR_024521 O14594:p.Ala70Thr SP substitution exon 1 VAR_024522 O60449:p.Asp692Asn SP substitution exon 1 VAR_024526 P00709:p.Ile46Val SP substitution exon 1 VAR_024527 Q9Y4K0:p.Met570Leu SP substitution exon 1 VAR_024528 P43363:p.Arg166Lys SP substitution exon 1 VAR_024529 Q14697:p.Arg154Trp SP substitution exon 1 VAR_024530 P46821:p.Ile594Val SP substitution exon 1 VAR_024531 O95711:p.Ser93Pro SP substitution exon 1 VAR_024532 Q9Y6Y9:p.Pro157Ser SP substitution exon 1 VAR_024533 O00476:p.Ala100Thr SP substitution exon 1 VAR_024534 Q8TD07:p.Arg12His SP substitution exon 1 VAR_024535 Q8TD07:p.Arg128His SP substitution exon 1 VAR_024536 Q8TD07:p.Val237Leu SP substitution exon 1 VAR_024537 Q9NRC9:p.Leu31Pro SP substitution exon 1 VAR_024539 O00566:p.Glu229Asp SP substitution exon 1 VAR_024540 Q96JQ5:p.Met178Val SP substitution exon 1 VAR_024541 P54278:p.Lys541Glu SP substitution exon 1 VAR_024542 Q9Y623:p.Lys1911Glu SP substitution exon 1 VAR_024543 Q9UKX3:p.Met1071Val SP substitution exon 1 VAR_024544 Q9NQX4:p.Glu1075Lys SP substitution exon 1 VAR_024545 Q99457:p.Pro224Ala SP substitution exon 1 VAR_024546 Q15596:p.Met1282Ile SP substitution exon 1 VAR_024547 P11086:p.Trp276Arg SP substitution exon 1 VAR_024548 P35228:p.Arg221Trp SP substitution exon 1 VAR_024549 Q9NPI5:p.Glu178Lys SP substitution exon 1 VAR_024551 Q9HD34:p.Ser11Ala SP substitution exon 1 VAR_024552 Q9Y2W1:p.Ala201Val SP substitution exon 1 VAR_024553 P04275:p.His484Arg SP substitution exon 1 VAR_024554 O76024:p.Ala602Val SP substitution exon 1 VAR_024555 Q9NZ20:p.Ser70Ala SP substitution exon 1 VAR_024556 Q9NZ20:p.Glu116Gln SP substitution exon 1 VAR_024557 Q9NZ20:p.Ser322Arg SP substitution exon 1 VAR_024559 O60664:p.Val275Ala SP substitution exon 1 VAR_024560 Q96HA9:p.Cys91Trp SP substitution exon 1 VAR_024561 Q96LB9:p.Gly126Ser SP substitution exon 1 VAR_024562 Q9HB21:p.Thr320Ala SP substitution exon 1 VAR_024563 P46019:p.Glu38Gln SP substitution exon 1 VAR_024564 Q92530:p.Phe36Cys SP substitution exon 1 VAR_024565 P48426:p.Asn251Ser SP substitution exon 1 VAR_024566 Q8TDX9:p.Val312Phe SP substitution exon 1 VAR_024567 Q8TDX9:p.Arg1053Pro SP substitution exon 1 VAR_024568 Q8TDX9:p.Lys1272Glu SP substitution exon 1 VAR_024569 Q9P0L9:p.Val393Ile SP substitution exon 1 VAR_024570 Q9P0L9:p.Arg681Leu SP substitution exon 1 VAR_024571 O14757:p.Ile471Val SP substitution exon 1 VAR_024573 P32298:p.Arg65Leu SP substitution exon 1 VAR_024574 P32298:p.Ala142Val SP substitution exon 1 VAR_024575 P32298:p.Val486Ala SP substitution exon 1 VAR_024577 Q04912:p.Arg1335Gly SP substitution exon 1 VAR_024578 Q02763:p.Val486Ile SP substitution exon 1 VAR_024579 Q92817:p.Asn49Ser SP substitution exon 1 VAR_024580 P49593:p.Leu420Arg SP substitution exon 1 VAR_024581 P23468:p.Gln447Glu SP substitution exon 1 VAR_024582 Q12913:p.Arg326Gln SP substitution exon 1 VAR_024583 Q9Y217:p.Ile319Val SP substitution exon 1 VAR_024584 O60678:p.Leu440Val SP substitution exon 1 VAR_024585 O60678:p.Ser508Asn SP substitution exon 1 VAR_024586 O96009:p.Ala310Thr SP substitution exon 1 VAR_024587 Q9UMQ6:p.Ser728Asn SP substitution exon 1 VAR_024588 Q99538:p.Val18Ile SP substitution exon 1 VAR_024589 Q9UMW8:p.Thr169Met SP substitution exon 1 VAR_024590 Q9HBJ7:p.Asn368Ser SP substitution exon 1 VAR_024591 Q9UNM6:p.Asn13Ser SP substitution exon 1 VAR_024592 Q04609:p.Tyr75His SP substitution exon 1 VAR_024593 P58872:p.Val255Met SP substitution exon 1 VAR_024594 Q9BYT8:p.Pro704Ser SP substitution exon 1 VAR_024595 P14780:p.Arg574Pro SP substitution exon 1 VAR_024597 Q9UKF2:p.Leu359Pro SP substitution exon 1 VAR_024598 O15204:p.Met121Thr SP substitution exon 1 VAR_024599 Q8TE59:p.Tyr1089Phe SP substitution exon 1 VAR_024600 Q86U38:p.Ser308Asn SP substitution exon 1 VAR_024601 Q8TDW5:p.Ile275Val SP substitution exon 1 VAR_024602 O60896:p.Trp56Arg SP substitution exon 1 VAR_024603 O75570:p.Asn2Ser SP substitution exon 1 VAR_024604 Q14197:p.Leu77Phe SP substitution exon 1 VAR_024605 P26358:p.His97Arg SP substitution exon 1 VAR_024607 O43572:p.Arg249His SP substitution exon 1 VAR_024608 O43572:p.Ile646Val SP substitution exon 1 VAR_024609 Q9H0U6:p.Arg6Gln SP substitution exon 1 VAR_024610 P82921:p.Arg51Gln SP substitution exon 1 VAR_024611 Q99728:p.Arg378Ser SP substitution exon 1 VAR_024612 Q8N448:p.Ser198Pro SP substitution exon 1 VAR_024613 Q9BXT8:p.Lys346Asn SP substitution exon 1 VAR_024614 Q14258:p.Val89Gly SP substitution exon 1 VAR_024615 Q14258:p.Pro358Leu SP substitution exon 1 VAR_024616 Q9UPN9:p.Ile840Thr SP substitution exon 1 VAR_024617 O75792:p.Leu202Ser SP substitution exon 1 VAR_024618 P34096:p.Thr16Ser SP substitution exon 1 VAR_024619 Q9H1E1:p.Ala103Pro SP substitution exon 1 VAR_024620 Q9H1E1:p.His116Tyr SP substitution exon 1 VAR_024621 P57052:p.Leu116Val SP substitution exon 1 VAR_024623 Q9NVU0:p.Ser46Ala SP substitution exon 1 VAR_024624 Q9UH99:p.Gly671Ser SP substitution exon 1 VAR_024625 P51659:p.Thr292Ser SP substitution exon 1 VAR_024626 O76054:p.Arg11Lys SP substitution exon 1 VAR_024627 Q9UDX4:p.Ile103Thr SP substitution exon 1 VAR_024628 Q9UDX4:p.Arg214His SP substitution exon 1 VAR_024629 Q9UDX3:p.Ser3Gly SP substitution exon 1 VAR_024630 Q02383:p.Ser274Asn SP substitution exon 1 VAR_024631 Q02383:p.Gly368Arg SP substitution exon 1 VAR_024632 P54219:p.Ala74Val SP substitution exon 1 VAR_024633 P54219:p.Phe84Ser SP substitution exon 1 VAR_024634 P54219:p.Ala101Pro SP substitution exon 1 VAR_024635 P54219:p.Ile164Met SP substitution exon 1 VAR_024636 P54219:p.Val249Ile SP substitution exon 1 VAR_024637 P54219:p.Leu392Val SP substitution exon 1 VAR_024638 Q16572:p.Ala520Glu SP substitution exon 1 VAR_024639 O43868:p.Pro22Leu SP substitution exon 1 VAR_024640 O43868:p.Ser75Arg SP substitution exon 1 VAR_024641 O43868:p.Ser245Thr SP substitution exon 1 VAR_024642 O43868:p.Phe355Ser SP substitution exon 1 VAR_024643 O43868:p.Leu462Phe SP substitution exon 1 VAR_024644 P46721:p.Ile13Thr SP substitution exon 1 VAR_024645 Q9NPD5:p.Ser112Ala SP substitution exon 1 VAR_024646 O94769:p.Gln56Pro SP substitution exon 1 VAR_024647 O43597:p.Pro106Ser SP substitution exon 1 VAR_024648 P48449:p.Arg175Gln SP substitution exon 1 VAR_024649 P06127:p.His461Arg SP substitution exon 1 VAR_024650 Q9UEW3:p.Phe282Ser SP substitution exon 1 VAR_024651 P59095:p.Glu159Lys SP substitution exon 1 VAR_024652 O95528:p.Thr518Ala SP substitution exon 1 VAR_024653 Q15814:p.Pro180Ser SP substitution exon 1 VAR_024655 Q9HA65:p.Leu99Pro SP substitution exon 1 VAR_024656 O15178:p.Gly356Ser SP substitution exon 1 VAR_024657 O43435:p.Thr350Met SP substitution exon 1 VAR_024658 Q9BXF9:p.Gly282Ala SP substitution exon 1 VAR_024659 Q9BXF9:p.Val296Ala SP substitution exon 1 VAR_024660 P22735:p.Asp802Val SP substitution exon 1 VAR_024661 Q9BZW5:p.Pro59Ser SP substitution exon 1 VAR_024662 O15321:p.Arg215His SP substitution exon 1 VAR_024663 O60603:p.Pro631His SP substitution exon 1 VAR_024665 Q9NYK1:p.Ala448Val SP substitution exon 1 VAR_024667 Q9NR97:p.Met10Val SP substitution exon 1 VAR_024668 Q9NR96:p.Arg5Cys SP substitution exon 1 VAR_024669 Q9BXR5:p.Ala163Ser SP substitution exon 1 VAR_024670 Q9BXR5:p.Asn241His SP substitution exon 1 VAR_024671 Q9BXR5:p.Met326Thr SP substitution exon 1 VAR_024672 Q9BXR5:p.Ile369Leu SP substitution exon 1 VAR_024673 Q9BXR5:p.Gly381Asp SP substitution exon 1 VAR_024674 Q9BXR5:p.Arg525Trp SP substitution exon 1 VAR_024675 Q9UJX2:p.Pro9Leu SP substitution exon 1 VAR_024677 Q86TZ1:p.Thr140Ile SP substitution exon 1 VAR_024678 Q9Y5S1:p.Gly17Ala SP substitution exon 1 VAR_024679 O00295:p.Asp251Asn SP substitution exon 1 VAR_024680 Q9NY65:p.Gln301Arg SP substitution exon 1 VAR_024683 Q96T54:p.Arg296Gln SP substitution exon 1 VAR_024684 P22310:p.Pro24Thr SP substitution exon 1 VAR_024685 P19224:p.Ser7Ala SP substitution exon 1 VAR_024686 Q9Y4X1:p.Gly308Arg SP substitution exon 1 VAR_024687 Q8WU76:p.Leu512Ser SP substitution exon 1 VAR_024689 Q14135:p.Met32Ile SP substitution exon 1 VAR_024690 P06396:p.Ala129Thr SP substitution exon 1 VAR_024691 O95425:p.Ser1688Pro SP substitution exon 1 VAR_024692 O00192:p.Arg906Gln SP substitution exon 1 VAR_024693 Q9UJA9:p.Ile171Val SP substitution exon 1 VAR_024694 Q8WYP3:p.Ser197Thr SP substitution exon 1 VAR_024695 P19957:p.Thr34Pro SP substitution exon 1 VAR_024696 O95925:p.His92Arg SP substitution exon 1 VAR_024697 O95834:p.Glu235Asp SP substitution exon 1 VAR_024698 Q9BYB4:p.Trp239Gly SP substitution exon 1 VAR_024699 Q99698:p.Leu192Val SP substitution exon 1 VAR_024700 Q8NI36:p.Ile264Val SP substitution exon 1 VAR_024701 Q9Y6I7:p.Leu16Ser SP substitution exon 1 VAR_024702 O95704:p.Cys231Arg SP substitution exon 1 VAR_024703 Q8WYQ9:p.Val693Met SP substitution exon 1 VAR_024704 Q9H8X9:p.Arg341Gln SP substitution exon 1 VAR_024705 Q05996:p.Gly36Val SP substitution exon 1 VAR_024706 P04798:p.Arg93Trp SP substitution exon 1 VAR_024707 P04798:p.Thr173Arg SP substitution exon 1 VAR_024708 P04798:p.Val482Met SP substitution exon 1 VAR_024711 P11509:p.Phe118Leu SP substitution exon 1 VAR_024712 P11509:p.Ser224Pro SP substitution exon 1 VAR_024713 P11509:p.Val365Met SP substitution exon 1 VAR_024714 P11509:p.Asn418Asp SP substitution exon 1 VAR_024715 P11509:p.Lys476Arg SP substitution exon 1 VAR_024716 P20813:p.Ile328Thr SP substitution exon 1 VAR_024717 P11712:p.Leu413Pro SP substitution exon 1 VAR_024718 P33261:p.Met74Thr SP substitution exon 1 VAR_024719 P33261:p.Phe168Leu SP substitution exon 1 VAR_024728 P20815:p.His30Tyr SP substitution exon 1 VAR_024729 P20815:p.Asp277Glu SP substitution exon 1 VAR_024730 P20815:p.Ala337Thr SP substitution exon 1 VAR_024731 P20815:p.Arg28Cys SP substitution exon 1 VAR_024732 P20815:p.Gln200Arg SP substitution exon 1 VAR_024733 P20815:p.Phe446Ser SP substitution exon 1 VAR_024734 Q96RS0:p.Ile16Thr SP substitution exon 1 VAR_024735 Q96RS0:p.Ile160Val SP substitution exon 1 VAR_024736 Q96RS0:p.Ile511Thr SP substitution exon 1 VAR_024737 Q96RS0:p.Val576Ile SP substitution exon 1 VAR_024739 Q96LB1:p.Asn16His SP substitution exon 1 VAR_024740 Q96LB1:p.Phe78Leu SP substitution exon 1 VAR_024741 Q8IWV7:p.His136Arg SP substitution exon 1 VAR_024743 Q5VTY9:p.Ser182Asn SP substitution exon 1 VAR_024746 Q9UHD2:p.Asn388Asp SP substitution exon 1 VAR_024747 Q9UHD2:p.Lys570Gln SP substitution exon 1 VAR_024748 Q9BWU0:p.Pro139Thr SP substitution exon 1 VAR_024749 P22748:p.Arg14Trp SP substitution exon 1 VAR_024750 P22748:p.Arg219Ser SP substitution exon 1 VAR_024751 Q9Y6R1:p.Arg342Ser SP substitution exon 1 VAR_024752 Q9Y6R1:p.Ser471Leu SP substitution exon 1 VAR_024753 Q9Y6R1:p.Thr529Ser SP substitution exon 1 VAR_024754 Q9Y6R1:p.Arg554His SP substitution exon 1 VAR_024755 Q9Y6R1:p.Ala843Val SP substitution exon 1 VAR_024756 Q9Y6R1:p.Arg925Cys SP substitution exon 1 VAR_024757 Q8NDN9:p.Ala24Val SP substitution exon 1 VAR_024758 O95199:p.Ala263Thr SP substitution exon 1 VAR_024759 O95199:p.Cys515Ser SP substitution exon 1 VAR_024760 Q86SQ0:p.Pro941Ser SP substitution exon 1 VAR_024762 Q8IZL9:p.Ser86Leu SP substitution exon 1 VAR_024763 Q8IZL9:p.Ala137Thr SP substitution exon 1 VAR_024764 Q8IZL9:p.Lys281Arg SP substitution exon 1 VAR_024765 Q06495:p.Ala48Phe SP substitution exon 1 VAR_024766 Q06495:p.Val147Met SP substitution exon 1 VAR_024767 Q8WTQ1:p.Ile10Val SP substitution exon 1 VAR_024768 Q15612:p.Ile163Met SP substitution exon 1 VAR_024769 Q53TS8:p.His376Gln SP substitution exon 1 VAR_024770 Q9Y4U1:p.Gln27Arg SP substitution exon 1 VAR_024771 Q9Y4U1:p.Leu116Pro SP substitution exon 1 VAR_024772 Q9Y4U1:p.His122Arg SP substitution exon 1 VAR_024773 Q9Y4U1:p.Tyr130His SP substitution exon 1 VAR_024774 Q9Y4U1:p.Gly147Ala SP substitution exon 1 VAR_024775 Q9Y4U1:p.Gly147Asp SP substitution exon 1 VAR_024776 Q9Y4U1:p.Gly156Asp SP substitution exon 1 VAR_024777 Q9Y4U1:p.Trp157Cys SP substitution exon 1 VAR_024778 Q9Y4U1:p.Arg161Gly SP substitution exon 1 VAR_024779 Q9Y4U1:p.Arg161Gln SP substitution exon 1 VAR_024780 Q9Y4U1:p.Arg189Ser SP substitution exon 1 VAR_024781 Q9Y4U1:p.Leu193Pro SP substitution exon 1 VAR_024782 Q9Y4U1:p.Arg206Pro SP substitution exon 1 VAR_024783 Q9Y4U1:p.Arg206Trp SP substitution exon 1 VAR_024784 Q562F6:p.Gly9Asp SP substitution exon 1 VAR_024785 Q562F6:p.Ile496Val SP substitution exon 1 VAR_024786 Q86UW7:p.Ala298Thr SP substitution exon 1 VAR_024787 Q8N137:p.Pro578Gln SP substitution exon 1 VAR_024788 Q9UGM3:p.Pro42Thr SP substitution exon 1 VAR_024789 Q9UGM3:p.Ser52Trp SP substitution exon 1 VAR_024790 Q9UGM3:p.Ser54Leu SP substitution exon 1 VAR_024791 Q9UGM3:p.Val60Ala SP substitution exon 1 VAR_024792 Q9UGM3:p.Pro65Leu SP substitution exon 1 VAR_024793 Q9UGM3:p.Gln337Leu SP substitution exon 1 VAR_024794 Q9UGM3:p.Pro357Ser SP substitution exon 1 VAR_024795 Q9UGM3:p.Arg364Gly SP substitution exon 1 VAR_024796 Q9UGM3:p.Gln420His SP substitution exon 1 VAR_024797 Q9UGM3:p.Gly607Val SP substitution exon 1 VAR_024798 Q9UGM3:p.Thr649Met SP substitution exon 1 VAR_024799 Q9UGM3:p.Arg656Trp SP substitution exon 1 VAR_024800 Q9UGM3:p.Thr780Met SP substitution exon 1 VAR_024801 Q9UGM3:p.Pro856Ser SP substitution exon 1 VAR_024802 Q9UGM3:p.His1084Tyr SP substitution exon 1 VAR_024803 Q9UGM3:p.Met1169Thr SP substitution exon 1 VAR_024804 Q9UGM3:p.Arg1176Trp SP substitution exon 1 VAR_024805 Q9UGM3:p.Val1545Met SP substitution exon 1 VAR_024806 Q9UGM3:p.His1732Ser SP substitution exon 1 VAR_024807 Q9UGM3:p.Thr1961Pro SP substitution exon 1 VAR_024808 Q96FC9:p.Ile39Ser SP substitution exon 1 VAR_024809 Q96FC9:p.Gln567Glu SP substitution exon 1 VAR_024810 Q96FC9:p.Thr575Met SP substitution exon 1 VAR_024811 Q96RW7:p.Ala1624Val SP substitution exon 1 VAR_024812 Q96RW7:p.Met2327Ile SP substitution exon 1 VAR_024813 Q96RW7:p.Ile2418Thr SP substitution exon 1 VAR_024814 Q96RW7:p.Glu2893Gly SP substitution exon 1 VAR_024815 Q96RW7:p.His4084Tyr SP substitution exon 1 VAR_024816 Q96RW7:p.Ala4720Thr SP substitution exon 1 VAR_024817 Q96RW7:p.Asp5087Val SP substitution exon 1 VAR_024818 Q96RW7:p.Gln5345Arg SP substitution exon 1 VAR_024819 P02458:p.Gly513Ser SP substitution exon 1 VAR_024820 P02458:p.Gly717Val SP substitution exon 1 VAR_024821 P02458:p.Gly771Ala SP substitution exon 1 VAR_024822 P02458:p.Thr1390Asn SP substitution exon 1 VAR_024823 P02458:p.Thr1448Pro SP substitution exon 1 VAR_024824 P02458:p.Asp1469His SP substitution exon 1 VAR_024826 P02458:p.Cys1485Gly SP substitution exon 1 VAR_024827 Q96MN2:p.Glu383Asp SP substitution exon 1 VAR_024828 Q96MN2:p.Pro390Gln SP substitution exon 1 VAR_024829 Q96MN2:p.Leu774Met SP substitution exon 1 VAR_024830 Q8NDN9:p.Thr500Ile SP substitution exon 1 VAR_024831 O15527:p.Gly12Glu SP substitution exon 1 VAR_024832 O15527:p.Ala85Ser SP substitution exon 1 VAR_024833 O15527:p.Arg131Gln SP substitution exon 1 VAR_024834 O15527:p.Ser232Thr SP substitution exon 1 VAR_024835 P17022:p.Gln210Arg SP substitution exon 1 VAR_024836 P17022:p.Met240Ile SP substitution exon 1 VAR_024837 Q12908:p.Val98Ile SP substitution exon 1 VAR_024838 Q12908:p.Val159Ile SP substitution exon 1 VAR_024839 P17029:p.Val26Ala SP substitution exon 1 VAR_024840 Q9P243:p.Gly64Arg SP substitution exon 1 VAR_024841 Q15937:p.Thr31Ile SP substitution exon 1 VAR_024842 Q15937:p.Arg51Gly SP substitution exon 1 VAR_024843 Q03936:p.Gln492Arg SP substitution exon 1 VAR_024844 Q6U949:p.Ser106Ile SP substitution exon 1 VAR_024845 Q6U949:p.Pro112Thr SP substitution exon 1 VAR_024846 Q6U949:p.Phe125Val SP substitution exon 1 VAR_024847 Q6U949:p.Thr150Ala SP substitution exon 1 VAR_024848 Q5MNZ9:p.Thr31Ile SP substitution exon 1 VAR_024849 Q400G9:p.Arg491His SP substitution exon 1 VAR_024850 Q86W34:p.Asn30Asp SP substitution exon 1 VAR_024851 P21953:p.Arg183Pro SP substitution exon 1 VAR_024852 P21953:p.Gly278Ser SP substitution exon 1 VAR_024853 O75923:p.Ala170Glu SP substitution exon 1 VAR_024854 O75923:p.Leu189Val SP substitution exon 1 VAR_024855 O75923:p.Arg253Trp SP substitution exon 1 VAR_024856 O75923:p.Leu266Pro SP substitution exon 1 VAR_024857 O75923:p.Gly299Glu SP substitution exon 1 VAR_024858 O75923:p.Cys456Trp SP substitution exon 1 VAR_024859 O75923:p.Arg555Trp SP substitution exon 1 VAR_024860 O75923:p.Arg959Trp SP substitution exon 1 VAR_024861 O75923:p.Arg1022Gln SP substitution exon 1 VAR_024862 O75923:p.Arg1038Gln SP substitution exon 1 VAR_024863 O75923:p.Arg1046His SP substitution exon 1 VAR_024865 O75923:p.Ile1208Met SP substitution exon 1 VAR_024866 O75923:p.Leu1276Val SP substitution exon 1 VAR_024867 O75923:p.Arg1331Leu SP substitution exon 1 VAR_024868 O75923:p.Glu1335Lys SP substitution exon 1 VAR_024869 O75923:p.Asn1351Ser SP substitution exon 1 VAR_024870 O75923:p.Arg1693Gln SP substitution exon 1 VAR_024871 O75923:p.Glu1748Val SP substitution exon 1 VAR_024872 O75923:p.Arg2000Gln SP substitution exon 1 VAR_024873 P34059:p.Leu15Met SP substitution exon 1 VAR_024875 P34059:p.Gly23Arg SP substitution exon 1 VAR_024876 P34059:p.Leu36Pro SP substitution exon 1 VAR_024877 P34059:p.Met41Leu SP substitution exon 1 VAR_024878 P34059:p.Gly42Glu SP substitution exon 1 VAR_024880 P34059:p.Ser53Phe SP substitution exon 1 VAR_024881 P34059:p.Arg61Trp SP substitution exon 1 VAR_024882 P34059:p.Phe69Val SP substitution exon 1 VAR_024884 P34059:p.Cys79Tyr SP substitution exon 1 VAR_024885 P34059:p.Arg94Leu SP substitution exon 1 VAR_024886 P34059:p.Ala107Thr SP substitution exon 1 VAR_024887 P34059:p.Gly116Ser SP substitution exon 1 VAR_024888 P34059:p.Trp141Cys SP substitution exon 1 VAR_024889 P34059:p.His150Tyr SP substitution exon 1 VAR_024890 P34059:p.Gly155Glu SP substitution exon 1 VAR_024891 P34059:p.Ser162Phe SP substitution exon 1 VAR_024892 P34059:p.Asn164Thr SP substitution exon 1 VAR_024893 P34059:p.Phe167Val SP substitution exon 1 VAR_024894 P34059:p.Asp171Ala SP substitution exon 1 VAR_024895 P34059:p.Pro179Ser SP substitution exon 1 VAR_024896 P34059:p.Ala203Val SP substitution exon 1 VAR_024897 P34059:p.Asp233Asn SP substitution exon 1 VAR_024898 P34059:p.Val239Phe SP substitution exon 1 VAR_024899 P34059:p.Arg253Trp SP substitution exon 1 VAR_024900 P34059:p.Glu260Asp SP substitution exon 1 VAR_024902 P34059:p.Leu307Pro SP substitution exon 1 VAR_024903 P34059:p.Lys310Asn SP substitution exon 1 VAR_024904 P34059:p.Trp325Cys SP substitution exon 1 VAR_024905 P34059:p.Gly340Asp SP substitution exon 1 VAR_024906 P34059:p.Ser341Arg SP substitution exon 1 VAR_024907 P34059:p.Leu345Pro SP substitution exon 1 VAR_024908 P34059:p.Leu352Pro SP substitution exon 1 VAR_024909 P34059:p.Pro357Leu SP substitution exon 1 VAR_024910 P34059:p.Leu369Pro SP substitution exon 1 VAR_024911 P34059:p.Arg380Ser SP substitution exon 1 VAR_024912 P34059:p.Arg380Thr SP substitution exon 1 VAR_024913 P34059:p.Arg386His SP substitution exon 1 VAR_024914 P34059:p.Asp388Asn SP substitution exon 1 VAR_024915 P34059:p.Ala392Val SP substitution exon 1 VAR_024916 P34059:p.His398Asp SP substitution exon 1 VAR_024917 P34059:p.His401Tyr SP substitution exon 1 VAR_024919 P34059:p.Phe452Ile SP substitution exon 1 VAR_024920 P34059:p.Ser470Pro SP substitution exon 1 VAR_024921 P34059:p.Pro484Ser SP substitution exon 1 VAR_024922 Q71RS6:p.Thr111Ala SP substitution exon 1 VAR_024923 Q13948:p.Ala464Thr SP substitution exon 1 VAR_024924 Q13948:p.Ile545Val SP substitution exon 1 VAR_024925 Q9H5U6:p.Leu396His SP substitution exon 1 VAR_024926 Q7Z4H7:p.His674Gln SP substitution exon 1 VAR_024927 Q7Z4H7:p.Ser761Ile SP substitution exon 1 VAR_024928 Q6NW29:p.Ile124Leu SP substitution exon 1 VAR_024929 Q96ET8:p.Asp12Ala SP substitution exon 1 VAR_024930 O60477:p.Ala437Thr SP substitution exon 1 VAR_024931 Q5S007:p.Arg50His SP substitution exon 1 VAR_024932 Q5S007:p.Leu119Pro SP substitution exon 1 VAR_024933 Q5S007:p.Asn551Lys SP substitution exon 1 VAR_024934 Q5S007:p.Ile723Val SP substitution exon 1 VAR_024935 Q5S007:p.Arg793Met SP substitution exon 1 VAR_024936 Q5S007:p.Gln930Arg SP substitution exon 1 VAR_024937 Q5S007:p.Asp944Tyr SP substitution exon 1 VAR_024938 Q5S007:p.Arg1067Gln SP substitution exon 1 VAR_024939 Q5S007:p.Ser1096Cys SP substitution exon 1 VAR_024940 Q5S007:p.Ile1122Val SP substitution exon 1 VAR_024941 Q5S007:p.Ser1228Thr SP substitution exon 1 VAR_024942 Q5S007:p.Pro1262Ala SP substitution exon 1 VAR_024966 Q9UQ84:p.Val27Ala SP substitution exon 1 VAR_024967 Q9UQ84:p.Val76Ile SP substitution exon 1 VAR_024968 Q9UQ84:p.Arg93Gly SP substitution exon 1 VAR_024969 Q9UQ84:p.Glu109Lys SP substitution exon 1 VAR_024970 Q9UQ84:p.Ala137Ser SP substitution exon 1 VAR_024971 Q9UQ84:p.Asn279Ser SP substitution exon 1 VAR_024972 Q9UQ84:p.Asn299Ser SP substitution exon 1 VAR_024973 Q9UQ84:p.His354Arg SP substitution exon 1 VAR_024974 Q9UQ84:p.Leu410Arg SP substitution exon 1 VAR_024975 Q9UQ84:p.Asp428Asn SP substitution exon 1 VAR_024976 Q9UQ84:p.Phe438Cys SP substitution exon 1 VAR_024977 Q9UQ84:p.Thr439Met SP substitution exon 1 VAR_024978 Q9UQ84:p.Ser456Tyr SP substitution exon 1 VAR_024979 Q9UQ84:p.Val458Met SP substitution exon 1 VAR_024980 Q9UQ84:p.Val460Leu SP substitution exon 1 VAR_024981 Q9UQ84:p.Arg503Thr SP substitution exon 1 VAR_024982 Q9UQ84:p.Glu589Lys SP substitution exon 1 VAR_024983 Q9UQ84:p.Ser610Gly SP substitution exon 1 VAR_024984 Q9UQ84:p.Arg634Gln SP substitution exon 1 VAR_024985 Q9UQ84:p.Pro640Ala SP substitution exon 1 VAR_024986 Q9UQ84:p.Pro640Ser SP substitution exon 1 VAR_024987 Q9UQ84:p.Glu670Gly SP substitution exon 1 VAR_024988 Q9UQ84:p.Arg723Cys SP substitution exon 1 VAR_024989 Q9UQ84:p.His726Pro SP substitution exon 1 VAR_024990 Q9UQ84:p.Pro757Leu SP substitution exon 1 VAR_024991 Q9UQ84:p.Gly759Glu SP substitution exon 1 VAR_024992 Q9UQ84:p.Pro770Leu SP substitution exon 1 VAR_024993 Q9UQ84:p.Ala827Val SP substitution exon 1 VAR_024994 Q9H2X9:p.Pro1100Leu SP substitution exon 1 VAR_024995 Q9BZJ0:p.Gly35Arg SP substitution exon 1 VAR_024996 P14770:p.Leu7Pro SP substitution exon 1 VAR_024997 P14770:p.Cys24Arg SP substitution exon 1 VAR_024998 P14770:p.Leu56Pro SP substitution exon 1 VAR_024999 P14770:p.Phe71Ser SP substitution exon 1 VAR_025000 P13224:p.Tyr113Cys SP substitution exon 1 VAR_025001 P13224:p.Ala133Pro SP substitution exon 1 VAR_025002 P69905:p.Arg32Lys SP substitution exon 1 VAR_025003 Q8N4T0:p.Ser173Cys SP substitution exon 1 VAR_025005 Q9NR83:p.Glu233Asp SP substitution exon 1 VAR_025006 Q9NQG7:p.Glu229Gly SP substitution exon 1 VAR_025008 P14770:p.Cys113Tyr SP substitution exon 1 VAR_025009 P14770:p.Ala156Thr SP substitution exon 1 VAR_025010 Q8NFD2:p.Glu713Lys SP substitution exon 1 VAR_025011 Q9NX02:p.Arg364Lys SP substitution exon 1 VAR_025012 Q9NRR2:p.Trp160Ser SP substitution exon 1 VAR_025013 Q9HCU0:p.His457Arg SP substitution exon 1 VAR_025016 Q13490:p.Met453Val SP substitution exon 1 VAR_025017 Q13490:p.Ala506Val SP substitution exon 1 VAR_025018 Q13490:p.Pro549Ser SP substitution exon 1 VAR_025019 O43505:p.Thr253Ser SP substitution exon 1 VAR_025022 O75106:p.Ile5Val SP substitution exon 1 VAR_025023 O75106:p.Tyr22Cys SP substitution exon 1 VAR_025024 O75106:p.Pro141Leu SP substitution exon 1 VAR_025025 O75106:p.Arg273Gln SP substitution exon 1 VAR_025026 O75106:p.Glu427Asp SP substitution exon 1 VAR_025027 Q16853:p.His167Tyr SP substitution exon 1 VAR_025028 Q16853:p.Ile371Thr SP substitution exon 1 VAR_025029 Q16853:p.Ala408Ser SP substitution exon 1 VAR_025030 Q16853:p.Arg426His SP substitution exon 1 VAR_025031 Q16853:p.Arg441Trp SP substitution exon 1 VAR_025032 Q16853:p.Ala582Thr SP substitution exon 1 VAR_025033 Q16853:p.Gly700Ser SP substitution exon 1 VAR_025034 Q16853:p.Ala749Val SP substitution exon 1 VAR_025035 Q16853:p.Thr5Arg SP substitution exon 1 VAR_025036 P22894:p.Ser3Cys SP substitution exon 1 VAR_025037 P22894:p.Thr32Ile SP substitution exon 1 VAR_025038 P22894:p.Gly154Glu SP substitution exon 1 VAR_025039 P22894:p.Asp193Val SP substitution exon 1 VAR_025040 P22894:p.Asn246Tyr SP substitution exon 1 VAR_025041 P22894:p.Val436Ala SP substitution exon 1 VAR_025043 P00519:p.Gly706Val SP substitution exon 1 VAR_025044 P00519:p.Thr852Pro SP substitution exon 1 VAR_025045 P00519:p.Pro900Ser SP substitution exon 1 VAR_025046 P00519:p.Ser972Leu SP substitution exon 1 VAR_025047 P48637:p.Arg236Gln SP substitution exon 1 VAR_025049 P30044:p.Tyr33Cys SP substitution exon 1 VAR_025050 Q06830:p.Arg62Gly SP substitution exon 1 VAR_025051 P32119:p.Asp153Glu SP substitution exon 1 VAR_025052 P30048:p.Ser55Arg SP substitution exon 1 VAR_025053 P30048:p.Ala218Thr SP substitution exon 1 VAR_025054 P30048:p.Thr234Ile SP substitution exon 1 VAR_025055 Q9UHA7:p.Ile63Thr SP substitution exon 1 VAR_025056 Q9UHA7:p.Gly134Arg SP substitution exon 1 VAR_025057 Q9NZH7:p.Arg36Cys SP substitution exon 1 VAR_025058 Q8IUX4:p.Ala178Thr SP substitution exon 1 VAR_025060 Q9HC16:p.Gln275Glu SP substitution exon 1 VAR_025061 Q99758:p.Asn140His SP substitution exon 1 VAR_025062 Q99758:p.Pro766Ser SP substitution exon 1 VAR_025063 P98155:p.Pro262His SP substitution exon 1 VAR_025064 P98155:p.Leu464Ile SP substitution exon 1 VAR_025065 P98155:p.Ile561Val SP substitution exon 1 VAR_025066 P98155:p.Arg613His SP substitution exon 1 VAR_025067 P98155:p.Val791Ile SP substitution exon 1 VAR_025068 Q8N5D6:p.Ser21Gly SP substitution exon 1 VAR_025069 Q8N5D6:p.Leu79Pro SP substitution exon 1 VAR_025070 Q8N5D6:p.Arg163Trp SP substitution exon 1 VAR_025071 Q8N5D6:p.Asp200Asn SP substitution exon 1 VAR_025075 O43827:p.Glu51Asp SP substitution exon 1 VAR_025076 O43827:p.Arg140His SP substitution exon 1 VAR_025077 O43827:p.Gln175His SP substitution exon 1 VAR_025078 P19801:p.Thr16Met SP substitution exon 1 VAR_025079 P19801:p.Ser332Phe SP substitution exon 1 VAR_025080 P19801:p.Met479Ile SP substitution exon 1 VAR_025081 P19801:p.Asn659His SP substitution exon 1 VAR_025089 Q92482:p.Val43Met SP substitution exon 1 VAR_025090 P02730:p.Glu508Lys SP substitution exon 1 VAR_025091 O75752:p.Asp126Asn SP substitution exon 1 VAR_025092 P08603:p.Ile551Thr SP substitution exon 1 VAR_025093 P08603:p.Ser890Ile SP substitution exon 1 VAR_025094 P08603:p.Val1007Ile SP substitution exon 1 VAR_025095 P08603:p.Thr1017Ile SP substitution exon 1 VAR_025096 P08603:p.Asn1050Tyr SP substitution exon 1 VAR_025097 P08603:p.Ile1059Thr SP substitution exon 1 VAR_025098 P48509:p.Thr120Met SP substitution exon 1 VAR_025099 P18089:p.Gly211Ala SP substitution exon 1 VAR_025100 P18089:p.Val379Gly SP substitution exon 1 VAR_025101 P07550:p.Ser220Cys SP substitution exon 1 VAR_025102 P13945:p.Arg353Cys SP substitution exon 1 VAR_025103 Q6W5P4:p.Arg122Gln SP substitution exon 1 VAR_025104 Q6W5P4:p.Ser143Gly SP substitution exon 1 VAR_025105 Q6W5P4:p.Cys197Phe SP substitution exon 1 VAR_025106 Q6W5P4:p.Thr212Ile SP substitution exon 1 VAR_025108 Q05469:p.Tyr100His SP substitution exon 1 VAR_025109 Q05469:p.Gln127His SP substitution exon 1 VAR_025110 Q05469:p.Pro146Ser SP substitution exon 1 VAR_025111 Q05469:p.Ser177Thr SP substitution exon 1 VAR_025112 Q05469:p.Ala194Val SP substitution exon 1 VAR_025113 Q05469:p.Arg217Gln SP substitution exon 1 VAR_025114 Q05469:p.Lys497Asn SP substitution exon 1 VAR_025115 Q05469:p.Asn499His SP substitution exon 1 VAR_025116 Q05469:p.Arg938Ser SP substitution exon 1 VAR_025117 O94761:p.Gln54Arg SP substitution exon 1 VAR_025118 O94761:p.Glu71Gly SP substitution exon 1 VAR_025119 O94761:p.Pro92Ser SP substitution exon 1 VAR_025120 O94761:p.Gly189Ser SP substitution exon 1 VAR_025121 O94761:p.Ala273Thr SP substitution exon 1 VAR_025122 O94761:p.Glu301Lys SP substitution exon 1 VAR_025123 O94761:p.Arg522Cys SP substitution exon 1 VAR_025124 O94761:p.Arg522His SP substitution exon 1 VAR_025125 O94761:p.Pro591Leu SP substitution exon 1 VAR_025126 O94761:p.Pro793Ser SP substitution exon 1 VAR_025127 O94761:p.Val799Met SP substitution exon 1 VAR_025128 O94761:p.Pro964Thr SP substitution exon 1 VAR_025129 O94761:p.Glu976Lys SP substitution exon 1 VAR_025130 O94761:p.Arg1004Trp SP substitution exon 1 VAR_025131 O94761:p.Arg1021Gln SP substitution exon 1 VAR_025132 O94761:p.Ala1045Thr SP substitution exon 1 VAR_025133 O94761:p.Gly1105Asp SP substitution exon 1 VAR_025134 O94761:p.Gly1105Ser SP substitution exon 1 VAR_025135 O94761:p.Arg1106His SP substitution exon 1 VAR_025136 O94761:p.Gly1113Arg SP substitution exon 1 VAR_025137 O94761:p.Ser1148Phe SP substitution exon 1 VAR_025138 P11678:p.Ile40Met SP substitution exon 1 VAR_025139 P11678:p.Gln122His SP substitution exon 1 VAR_025140 P11678:p.Ala249Glu SP substitution exon 1 VAR_025141 P11678:p.Lys276Arg SP substitution exon 1 VAR_025142 P11678:p.Pro292Leu SP substitution exon 1 VAR_025143 P11678:p.Arg326Pro SP substitution exon 1 VAR_025144 P11678:p.Pro358Leu SP substitution exon 1 VAR_025145 P11678:p.Arg364His SP substitution exon 1 VAR_025146 P11678:p.Lys441Thr SP substitution exon 1 VAR_025147 P11678:p.His496Gln SP substitution exon 1 VAR_025148 Q96EB6:p.Asp3Glu SP substitution exon 1 VAR_025149 O14746:p.His412Tyr SP substitution exon 1 VAR_025150 O14746:p.Ala1062Thr SP substitution exon 1 VAR_025151 Q9BXC0:p.His43Gln SP substitution exon 1 VAR_025152 Q9BXC0:p.Asp253Glu SP substitution exon 1 VAR_025153 Q07157:p.Asn471Ser SP substitution exon 1 VAR_025154 Q07157:p.Ile790Val SP substitution exon 1 VAR_025155 Q07157:p.Pro930Leu SP substitution exon 1 VAR_025156 Q07157:p.His1110Arg SP substitution exon 1 VAR_025157 Q07157:p.Asp1347Ala SP substitution exon 1 VAR_025158 Q07157:p.Asn1605Ser SP substitution exon 1 VAR_025159 P47901:p.Lys65Asn SP substitution exon 1 VAR_025160 P47901:p.Gly191Arg SP substitution exon 1 VAR_025161 P47901:p.Ser267Gly SP substitution exon 1 VAR_025162 P47901:p.Arg364His SP substitution exon 1 VAR_025163 P08574:p.Met76Val SP substitution exon 1 VAR_025164 P43489:p.Arg10Cys SP substitution exon 1 VAR_025165 P14780:p.Arg239His SP substitution exon 1 VAR_025166 P14780:p.Phe571Val SP substitution exon 1 VAR_025167 P60484:p.Val290Leu SP substitution exon 1 VAR_025168 P04920:p.Gly26Glu SP substitution exon 1 VAR_025169 P04920:p.Glu202Val SP substitution exon 1 VAR_025170 P04920:p.Arg311Trp SP substitution exon 1 VAR_025171 P04920:p.Leu1204Phe SP substitution exon 1 VAR_025172 P06733:p.Asn177Lys SP substitution exon 1 VAR_025173 P01562:p.Ala163Gly SP substitution exon 1 VAR_025174 P12034:p.Met54Val SP substitution exon 1 VAR_025175 P45984:p.Gly268Ala SP substitution exon 1 VAR_025176 Q15759:p.Arg275His SP substitution exon 1 VAR_025177 O95498:p.Thr17Asn SP substitution exon 1 VAR_025178 O95498:p.Asp112Glu SP substitution exon 1 VAR_025179 O95498:p.Val241Ile SP substitution exon 1 VAR_025180 O95498:p.Thr349Ser SP substitution exon 1 VAR_025181 O95747:p.Ser425Thr SP substitution exon 1 VAR_025190 P21757:p.Phe23Cys SP substitution exon 1 VAR_025191 P21757:p.Pro275Ala SP substitution exon 1 VAR_025192 P22570:p.Arg7Leu SP substitution exon 1 VAR_025193 P22570:p.Gly213Val SP substitution exon 1 VAR_025194 P22570:p.Pro248Leu SP substitution exon 1 VAR_025200 Q9UM13:p.Arg46Gln SP substitution exon 1 VAR_025201 P28562:p.Ala56Thr SP substitution exon 1 VAR_025202 P28562:p.Tyr187His SP substitution exon 1 VAR_025206 P20813:p.Thr26Ser SP substitution exon 1 VAR_025207 P20813:p.Asp28Gly SP substitution exon 1 VAR_025208 P20813:p.Arg29Ser SP substitution exon 1 VAR_025209 P20813:p.Asn289Lys SP substitution exon 1 VAR_025210 P20813:p.Thr306Ser SP substitution exon 1 VAR_025211 Q9BQ50:p.Arg180Cys SP substitution exon 1 VAR_025212 Q12904:p.Pro79Ala SP substitution exon 1 VAR_025213 P19174:p.Thr209Asn SP substitution exon 1 VAR_025214 P19174:p.Ser739Thr SP substitution exon 1 VAR_025216 O94759:p.Asn52Lys SP substitution exon 1 VAR_025217 O94759:p.Val166Ile SP substitution exon 1 VAR_025218 O94759:p.Val385Met SP substitution exon 1 VAR_025219 O94759:p.Asp780Glu SP substitution exon 1 VAR_025220 O94759:p.Gln1189Arg SP substitution exon 1 VAR_025221 O94759:p.Arg1199Trp SP substitution exon 1 VAR_025222 O94759:p.Ser1201Gly SP substitution exon 1 VAR_025223 O94759:p.Asn1249Ser SP substitution exon 1 VAR_025228 Q6AZY7:p.Arg130Gln SP substitution exon 1 VAR_025229 Q6AZY7:p.Met325Thr SP substitution exon 1 VAR_025230 Q6AZY7:p.Arg423Gln SP substitution exon 1 VAR_025231 Q6AZY7:p.Val428Ile SP substitution exon 1 VAR_025232 Q6AZY7:p.Phe467Leu SP substitution exon 1 VAR_025233 Q6AZY7:p.Pro551Ser SP substitution exon 1 VAR_025234 Q9NS18:p.Lys95Glu SP substitution exon 1 VAR_025235 P20701:p.Arg144His SP substitution exon 1 VAR_025236 P20701:p.Arg214Trp SP substitution exon 1 VAR_025237 P20701:p.Gln746Lys SP substitution exon 1 VAR_025238 P20701:p.Arg791Thr SP substitution exon 1 VAR_025239 Q08050:p.Ala402Glu SP substitution exon 1 VAR_025240 Q08050:p.Phe450Leu SP substitution exon 1 VAR_025241 Q08050:p.Pro669Arg SP substitution exon 1 VAR_025242 Q08050:p.Pro673Leu SP substitution exon 1 VAR_025243 O15315:p.Val9Met SP substitution exon 1 VAR_025244 O15315:p.Phe82Cys SP substitution exon 1 VAR_025245 O15315:p.Leu172Trp SP substitution exon 1 VAR_025246 O15315:p.Tyr180Cys SP substitution exon 1 VAR_025247 O15315:p.Lys243Arg SP substitution exon 1 VAR_025248 O15315:p.Ser250Ala SP substitution exon 1 VAR_025249 P59796:p.Gln6Leu SP substitution exon 1 VAR_025250 P59796:p.Phe13Leu SP substitution exon 1 VAR_025251 P59796:p.Tyr53His SP substitution exon 1 VAR_025252 P59796:p.Gln58His SP substitution exon 1 VAR_025253 P59796:p.Tyr72Asn SP substitution exon 1 VAR_025254 P59796:p.Glu136Asp SP substitution exon 1 VAR_025255 P59796:p.Val140Met SP substitution exon 1 VAR_025256 P59796:p.Pro157Ser SP substitution exon 1 VAR_025257 P59796:p.Asp161Gly SP substitution exon 1 VAR_025258 P59796:p.Val188Ala SP substitution exon 1 VAR_025259 Q9HB29:p.Val352Ile SP substitution exon 1 VAR_025260 Q9HB29:p.Leu550Pro SP substitution exon 1 VAR_025261 Q13480:p.Pro311Leu SP substitution exon 1 VAR_025262 P17936:p.Ala32Gly SP substitution exon 1 VAR_025263 P17936:p.Ala56Thr SP substitution exon 1 VAR_025264 P17936:p.Gly234Ser SP substitution exon 1 VAR_025269 Q9BZE1:p.Leu322Val SP substitution exon 1 VAR_025270 Q9BZE1:p.Cys366Ser SP substitution exon 1 VAR_025271 P01258:p.Gly2Arg SP substitution exon 1 VAR_025272 P01258:p.Glu67Lys SP substitution exon 1 VAR_025273 P01258:p.Ser123Thr SP substitution exon 1 VAR_025274 P01258:p.Gln138Pro SP substitution exon 1 VAR_025275 Q6P9F7:p.Gln419Lys SP substitution exon 1 VAR_025277 P26998:p.Arg105Gln SP substitution exon 1 VAR_025278 P26998:p.His113Asp SP substitution exon 1 VAR_025279 P26998:p.Val159Ile SP substitution exon 1 VAR_025280 P26998:p.Gly165Arg SP substitution exon 1 VAR_025281 P35498:p.Gln1489Lys SP substitution exon 1 VAR_025282 Q96T21:p.Arg540Gln SP substitution exon 1 VAR_025283 P01833:p.Gly365Ser SP substitution exon 1 VAR_025284 O60494:p.Phe124Ile SP substitution exon 1 VAR_025285 O60494:p.Phe253Ser SP substitution exon 1 VAR_025286 O60494:p.Pro389Thr SP substitution exon 1 VAR_025287 O60494:p.Tyr1032His SP substitution exon 1 VAR_025288 O60494:p.Pro1297Leu SP substitution exon 1 VAR_025289 O60494:p.Asn1545Tyr SP substitution exon 1 VAR_025290 O60494:p.Pro1559Ser SP substitution exon 1 VAR_025291 O60494:p.Val1769Ile SP substitution exon 1 VAR_025292 O60494:p.Leu2153Phe SP substitution exon 1 VAR_025293 O60494:p.Cys2162Tyr SP substitution exon 1 VAR_025294 O60494:p.Pro2575Arg SP substitution exon 1 VAR_025295 O60494:p.Gly2691Arg SP substitution exon 1 VAR_025296 O60494:p.Ser2717Trp SP substitution exon 1 VAR_025297 O60494:p.Leu2879Ile SP substitution exon 1 VAR_025298 O60494:p.Ile2984Val SP substitution exon 1 VAR_025299 O60494:p.Glu3002Gly SP substitution exon 1 VAR_025300 O60494:p.Thr3422Ile SP substitution exon 1 VAR_025301 O60494:p.Asn3552Lys SP substitution exon 1 VAR_025303 Q13191:p.Arg584Lys SP substitution exon 1 VAR_025304 Q9UBG0:p.Val43Ile SP substitution exon 1 VAR_025305 Q9UBG0:p.Arg1156His SP substitution exon 1 VAR_025307 Q9HCN3:p.Thr136Ala SP substitution exon 1 VAR_025308 Q9HCN3:p.Ile310Val SP substitution exon 1 VAR_025309 Q9Y2I7:p.Lys1103Arg SP substitution exon 1 VAR_025310 Q8N339:p.Thr20Lys SP substitution exon 1 VAR_025311 Q92769:p.Arg230Cys SP substitution exon 1 VAR_025312 Q92769:p.Tyr315His SP substitution exon 1 VAR_025313 Q02878:p.His227Arg SP substitution exon 1 VAR_025315 P42025:p.Val93Ala SP substitution exon 1 VAR_025316 Q8N3I7:p.Asn184Ser SP substitution exon 1 VAR_025317 Q8N3I7:p.Arg207His SP substitution exon 1 VAR_025318 P35612:p.Thr439Ala SP substitution exon 1 VAR_025319 O43290:p.Gly485Ala SP substitution exon 1 VAR_025320 P35568:p.Thr608Arg SP substitution exon 1 VAR_025323 Q9NRD8:p.Gln36His SP substitution exon 1 VAR_025324 Q9NRD8:p.Pro138Leu SP substitution exon 1 VAR_025325 Q9NRD8:p.Arg376Trp SP substitution exon 1 VAR_025326 Q8IZF2:p.Thr604Met SP substitution exon 1 VAR_025327 Q86VP6:p.Ala952Val SP substitution exon 1 VAR_025328 Q9Y2E5:p.Gln243Pro SP substitution exon 1 VAR_025329 Q9Y2E5:p.Val320Met SP substitution exon 1 VAR_025330 Q9Y2E5:p.Met446Val SP substitution exon 1 VAR_025331 Q9Y2E5:p.Asn541Ser SP substitution exon 1 VAR_025333 Q96SZ5:p.Gly25Trp SP substitution exon 1 VAR_025334 Q96SZ5:p.Pro39Ala SP substitution exon 1 VAR_025335 P68871:p.Asn140Ser SP substitution exon 1 VAR_025336 P69892:p.His64Leu SP substitution exon 1 VAR_025337 Q96AY2:p.Ile49Val SP substitution exon 1 VAR_025338 Q96AY2:p.Glu69Asp SP substitution exon 1 VAR_025339 Q96AY2:p.Ile350Thr SP substitution exon 1 VAR_025340 Q96NY9:p.Arg37His SP substitution exon 1 VAR_025341 Q96NY9:p.Gln481His SP substitution exon 1 VAR_025342 Q8TDQ0:p.Arg140Leu SP substitution exon 1 VAR_025343 Q9UQV4:p.Ile318Val SP substitution exon 1 VAR_025344 O00187:p.Arg99Gln SP substitution exon 1 VAR_025345 O00187:p.Arg118Cys SP substitution exon 1 VAR_025346 O00187:p.Asp120Gly SP substitution exon 1 VAR_025347 O00187:p.Pro126Leu SP substitution exon 1 VAR_025349 Q8IUG1:p.Cys34Ser SP substitution exon 1 VAR_025352 Q8IUG1:p.Gly92Arg SP substitution exon 1 VAR_025354 P57727:p.Arg216Leu SP substitution exon 1 VAR_025355 P22309:p.Ala511Pro SP substitution exon 1 VAR_025356 Q8NFG4:p.Ser79Trp SP substitution exon 1 VAR_025357 Q8NFG4:p.Ala238Val SP substitution exon 1 VAR_025358 Q8NFG4:p.Arg320Gln SP substitution exon 1 VAR_025359 Q8NFG4:p.Arg392Gly SP substitution exon 1 VAR_025360 Q8NFG4:p.Ala444Ser SP substitution exon 1 VAR_025361 Q8NFG4:p.Ala445Thr SP substitution exon 1 VAR_025362 Q7Z401:p.Leu284Pro SP substitution exon 1 VAR_025363 Q8WVK2:p.Thr81Ile SP substitution exon 1 VAR_025364 Q8WVK2:p.Ser114Phe SP substitution exon 1 VAR_025365 Q7Z2E3:p.Leu237Pro SP substitution exon 1 VAR_025366 P35498:p.Met145Thr SP substitution exon 1 VAR_025367 P14410:p.Val15Phe SP substitution exon 1 VAR_025368 P14410:p.Gln117Arg SP substitution exon 1 VAR_025369 P14410:p.Thr231Ala SP substitution exon 1 VAR_025370 P14410:p.Leu341Pro SP substitution exon 1 VAR_025371 P14410:p.Val577Gly SP substitution exon 1 VAR_025372 P14410:p.Ser594Pro SP substitution exon 1 VAR_025373 P14410:p.Leu620Pro SP substitution exon 1 VAR_025374 P14410:p.Thr694Pro SP substitution exon 1 VAR_025375 P14410:p.Gly1073Asp SP substitution exon 1 VAR_025376 P14410:p.Cys1229Tyr SP substitution exon 1 VAR_025377 P14410:p.Arg1367Gly SP substitution exon 1 VAR_025378 P14410:p.Met1523Ile SP substitution exon 1 VAR_025379 P14410:p.Phe1745Cys SP substitution exon 1 VAR_025380 Q13216:p.Ala160Val SP substitution exon 1 VAR_025381 Q13216:p.Ala205Pro SP substitution exon 1 VAR_025383 Q9H244:p.Arg256Gln SP substitution exon 1 VAR_025384 Q9H244:p.Arg265Trp SP substitution exon 1 VAR_025385 P25774:p.Arg113Trp SP substitution exon 1 VAR_025386 P25774:p.Ser161Thr SP substitution exon 1 VAR_025387 P69905:p.Ala27Val SP substitution exon 1 VAR_025388 P69905:p.His59Gln SP substitution exon 1 VAR_025389 P69905:p.Asp95Ala SP substitution exon 1 VAR_025390 P69905:p.His104Tyr SP substitution exon 1 VAR_025391 P69905:p.Leu126Arg SP substitution exon 1 VAR_025392 P69905:p.Asp127Gly SP substitution exon 1 VAR_025393 P68871:p.Ala11Val SP substitution exon 1 VAR_025394 P68871:p.Val35Asp SP substitution exon 1 VAR_025395 P68871:p.Val35Leu SP substitution exon 1 VAR_025396 P68871:p.Gly84Asp SP substitution exon 1 VAR_025397 P68871:p.Cys113Phe SP substitution exon 1 VAR_025398 P68871:p.His117Leu SP substitution exon 1 VAR_025399 P68871:p.His118Tyr SP substitution exon 1 VAR_025403 O75820:p.Arg221Lys SP substitution exon 1 VAR_025404 O75897:p.Asp5Glu SP substitution exon 1 VAR_025405 O95757:p.Leu211Ser SP substitution exon 1 VAR_025410 Q99638:p.Cys3Phe SP substitution exon 1 VAR_025411 Q99638:p.Ser100Ala SP substitution exon 1 VAR_025412 Q99638:p.His239Arg SP substitution exon 1 VAR_025413 Q99638:p.Met307Thr SP substitution exon 1 VAR_025414 O60921:p.Gln147Lys SP substitution exon 1 VAR_025415 O60921:p.Asp221Glu SP substitution exon 1 VAR_025416 Q3T906:p.Asp407Ala SP substitution exon 1 VAR_025417 Q3T906:p.Ala662Gly SP substitution exon 1 VAR_025418 Q6NW34:p.Glu101Lys SP substitution exon 1 VAR_025419 Q6NW34:p.Pro352Ser SP substitution exon 1 VAR_025420 Q6NW34:p.Phe357Ile SP substitution exon 1 VAR_025423 Q15032:p.Met270Val SP substitution exon 1 VAR_025424 Q15032:p.Gln632Pro SP substitution exon 1 VAR_025425 Q9UGM1:p.Asn442Ser SP substitution exon 1 VAR_025427 Q9UGU0:p.Thr485Asn SP substitution exon 1 VAR_025428 Q9UGU0:p.Ser722Gly SP substitution exon 1 VAR_025429 Q9UGU0:p.Met1165Ile SP substitution exon 1 VAR_025430 Q9UGU0:p.Ser1325Asn SP substitution exon 1 VAR_025431 Q9UII6:p.Cys156Tyr SP substitution exon 1 VAR_025432 Q9Y2I8:p.Ile225Val SP substitution exon 1 VAR_025433 Q8TCU4:p.Val671Gly SP substitution exon 1 VAR_025434 Q8TCU4:p.Ser2111Arg SP substitution exon 1 VAR_025435 Q8TCU4:p.Ser2574Asn SP substitution exon 1 VAR_025436 Q8TCU4:p.Asp2672His SP substitution exon 1 VAR_025437 Q96J66:p.Arg19His SP substitution exon 1 VAR_025438 Q96J66:p.Gly180Arg SP substitution exon 1 VAR_025439 O94788:p.Glu50Gly SP substitution exon 1 VAR_025440 O94788:p.Ala110Val SP substitution exon 1 VAR_025441 O94788:p.Val348Ile SP substitution exon 1 VAR_025443 P06727:p.Arg279Lys SP substitution exon 1 VAR_025444 P06727:p.Gln77His SP substitution exon 1 VAR_025445 P02647:p.Ala61Thr SP substitution exon 1 VAR_025446 P08861:p.Arg79Trp SP substitution exon 1 VAR_025447 Q96RD9:p.Tyr267His SP substitution exon 1 VAR_025448 Q96RD9:p.Val269Ile SP substitution exon 1 VAR_025449 Q96RD9:p.Gly418Asp SP substitution exon 1 VAR_025450 Q96RD9:p.Val466Ile SP substitution exon 1 VAR_025451 Q8NBP7:p.Glu57Lys SP substitution exon 1 VAR_025452 Q8NBP7:p.Arg237Trp SP substitution exon 1 VAR_025453 Q8NBP7:p.Leu253Phe SP substitution exon 1 VAR_025454 Q8NBP7:p.His391Asn SP substitution exon 1 VAR_025455 Q8NBP7:p.His417Gln SP substitution exon 1 VAR_025456 Q8NBP7:p.Arg469Trp SP substitution exon 1 VAR_025457 Q8NBP7:p.Glu482Gly SP substitution exon 1 VAR_025458 Q8NBP7:p.Phe515Leu SP substitution exon 1 VAR_025459 Q8NBP7:p.Gln554Glu SP substitution exon 1 VAR_025460 P16499:p.Arg102His SP substitution exon 1 VAR_025461 P16499:p.Arg102Ser SP substitution exon 1 VAR_025462 P16499:p.Asn216Ser SP substitution exon 1 VAR_025463 P16499:p.Val277Ala SP substitution exon 1 VAR_025464 P16499:p.Pro293Leu SP substitution exon 1 VAR_025465 P16499:p.Val391Met SP substitution exon 1 VAR_025466 P16499:p.Gln569Lys SP substitution exon 1 VAR_025467 P16499:p.Ser573Pro SP substitution exon 1 VAR_025468 P16499:p.Lys827Gln SP substitution exon 1 VAR_025469 P16499:p.Gly850Val SP substitution exon 1 VAR_025470 P51160:p.Asp157Glu SP substitution exon 1 VAR_025471 P51160:p.Lys822Asn SP substitution exon 1 VAR_025472 P51160:p.Glu834Gly SP substitution exon 1 VAR_025473 Q6NUM9:p.Ala533Val SP substitution exon 1 VAR_025474 Q5HYA8:p.Gln376Pro SP substitution exon 1 VAR_025475 Q5HYA8:p.Ile604Val SP substitution exon 1 VAR_025476 O60292:p.Gly1371Ser SP substitution exon 1 VAR_025477 O60292:p.Pro1450Ala SP substitution exon 1 VAR_025478 Q96PL5:p.Ala4Val SP substitution exon 1 VAR_025479 Q96PL5:p.His26Tyr SP substitution exon 1 VAR_025480 Q96PL5:p.Gly35Ser SP substitution exon 1 VAR_025481 Q96PL5:p.Glu47Lys SP substitution exon 1 VAR_025482 Q96PL5:p.Gly57Arg SP substitution exon 1 VAR_025483 Q96PL5:p.Pro60Ala SP substitution exon 1 VAR_025484 Q96PL5:p.Arg81Gln SP substitution exon 1 VAR_025487 Q96PL5:p.Cys259Arg SP substitution exon 1 VAR_025488 Q96PL5:p.Gly263Glu SP substitution exon 1 VAR_025489 P54802:p.Phe48Leu SP substitution exon 1 VAR_025490 P54802:p.Phe314Leu SP substitution exon 1 VAR_025491 P54802:p.Pro521Leu SP substitution exon 1 VAR_025492 P54802:p.Arg565Pro SP substitution exon 1 VAR_025493 P54802:p.Arg565Trp SP substitution exon 1 VAR_025494 P54802:p.Arg643Cys SP substitution exon 1 VAR_025495 O15344:p.Leu295Pro SP substitution exon 1 VAR_025497 Q8NHY5:p.Asp268Tyr SP substitution exon 1 VAR_025498 Q9H5V8:p.Gln525Arg SP substitution exon 1 VAR_025499 Q9H5V8:p.Asp709Gly SP substitution exon 1 VAR_025500 P36955:p.Pro132Arg SP substitution exon 1 VAR_025501 Q8NHJ6:p.Phe5Leu SP substitution exon 1 VAR_025502 Q8NHJ6:p.Arg18Ser SP substitution exon 1 VAR_025503 Q8NHJ6:p.Cys330Tyr SP substitution exon 1 VAR_025504 Q8NHJ6:p.Asn335Asp SP substitution exon 1 VAR_025505 Q8NHJ6:p.Gln414Arg SP substitution exon 1 VAR_025506 Q96LA9:p.Ala182Val SP substitution exon 1 VAR_025507 Q96LB0:p.Cys82Arg SP substitution exon 1 VAR_025508 Q9UJ78:p.Ile125Val SP substitution exon 1 VAR_025509 Q9UJ78:p.Cys137Phe SP substitution exon 1 VAR_025510 Q9UNP4:p.His104Arg SP substitution exon 1 VAR_025511 P28331:p.Arg241Gln SP substitution exon 1 VAR_025512 Q9H1I8:p.Asp407His SP substitution exon 1 VAR_025513 Q9H1I8:p.Pro423Ser SP substitution exon 1 VAR_025514 Q9H1I8:p.Arg639Leu SP substitution exon 1 VAR_025515 Q96BD5:p.Arg347His SP substitution exon 1 VAR_025516 Q8IZ40:p.Thr514Ala SP substitution exon 1 VAR_025517 Q9P2K3:p.Lys42Arg SP substitution exon 1 VAR_025518 Q8N3Y3:p.Arg677Cys SP substitution exon 1 VAR_025520 P36575:p.Leu44Phe SP substitution exon 1 VAR_025521 Q13155:p.Ala129Gly SP substitution exon 1 VAR_025522 P08865:p.Arg117Trp SP substitution exon 1 VAR_025523 Q99712:p.Met30Leu SP substitution exon 1 VAR_025524 Q9NQW8:p.Arg203Gln SP substitution exon 1 VAR_025525 Q9NQW8:p.Pro750Ser SP substitution exon 1 VAR_025526 Q92878:p.Ile94Leu SP substitution exon 1 VAR_025527 Q92878:p.Arg224His SP substitution exon 1 VAR_025528 P49959:p.Arg305Trp SP substitution exon 1 VAR_025529 Q7Z5N4:p.Asp1016Asn SP substitution exon 1 VAR_025530 Q7Z5N4:p.His1641Arg SP substitution exon 1 VAR_025531 Q8N6L1:p.Gly32Val SP substitution exon 1 VAR_025532 P56645:p.Val639Gly SP substitution exon 1 VAR_025533 P56645:p.Met1028Thr SP substitution exon 1 VAR_025535 Q8WZ74:p.Leu1213Val SP substitution exon 1 VAR_025536 Q16600:p.Asp266Glu SP substitution exon 1 VAR_025537 Q86VZ4:p.Pro92Arg SP substitution exon 1 VAR_025538 Q86VZ4:p.Arg351His SP substitution exon 1 VAR_025539 Q8N5A5:p.Ser61Arg SP substitution exon 1 VAR_025540 Q8N628:p.Thr20Ala SP substitution exon 1 VAR_025541 Q8N628:p.Pro68Ser SP substitution exon 1 VAR_025542 Q8NEE8:p.Met405Thr SP substitution exon 1 VAR_025545 P19440:p.Ser51Leu SP substitution exon 1 VAR_025546 P19440:p.Asn419Asp SP substitution exon 1 VAR_025547 Q8TAE6:p.Thr10Ala SP substitution exon 1 VAR_025548 Q8WUT4:p.Pro138Leu SP substitution exon 1 VAR_025549 Q92982:p.Ala110Asp SP substitution exon 1 VAR_025550 Q16363:p.Tyr498His SP substitution exon 1 VAR_025551 Q16363:p.Gly1117Ser SP substitution exon 1 VAR_025552 Q16363:p.Pro1119Arg SP substitution exon 1 VAR_025553 P01138:p.Val72Met SP substitution exon 1 VAR_025554 P01138:p.Arg80Gln SP substitution exon 1 VAR_025555 P06401:p.Cys347Ser SP substitution exon 1 VAR_025556 Q9H9A7:p.Tyr100His SP substitution exon 1 VAR_025557 Q9H9A7:p.Asn455Ser SP substitution exon 1 VAR_025558 P08397:p.Met18Ile SP substitution exon 1 VAR_025559 P08397:p.Gln34Arg SP substitution exon 1 VAR_025560 P08397:p.Asp61Tyr SP substitution exon 1 VAR_025561 P08397:p.Thr78Pro SP substitution exon 1 VAR_025562 P08397:p.Glu80Gly SP substitution exon 1 VAR_025563 P08397:p.Leu81Pro SP substitution exon 1 VAR_025564 P08397:p.Glu86Val SP substitution exon 1 VAR_025565 P08397:p.Leu92Pro SP substitution exon 1 VAR_025567 P08397:p.Ser96Phe SP substitution exon 1 VAR_025568 P08397:p.Asp99Gly SP substitution exon 1 VAR_025569 P08397:p.Asp99His SP substitution exon 1 VAR_025570 P08397:p.Asp99Asn SP substitution exon 1 VAR_025571 P08397:p.Ile113Thr SP substitution exon 1 VAR_025572 P08397:p.Ala122Gly SP substitution exon 1 VAR_025573 P08397:p.Met212Val SP substitution exon 1 VAR_025574 P08397:p.Arg225Gln SP substitution exon 1 VAR_025575 P08397:p.Gly236Ser SP substitution exon 1 VAR_025576 P08397:p.Leu244Pro SP substitution exon 1 VAR_025577 P08397:p.Leu254Pro SP substitution exon 1 VAR_025578 P08397:p.Gly260Asp SP substitution exon 1 VAR_025579 P08397:p.Cys261Tyr SP substitution exon 1 VAR_025581 O43826:p.Gly20Asp SP substitution exon 1 VAR_025582 O43826:p.Tyr24His SP substitution exon 1 VAR_025583 O43826:p.Asn27Lys SP substitution exon 1 VAR_025584 O43826:p.Arg28Cys SP substitution exon 1 VAR_025585 O43826:p.Gly50Arg SP substitution exon 1 VAR_025586 O43826:p.Ser54Arg SP substitution exon 1 VAR_025587 O43826:p.Ser55Arg SP substitution exon 1 VAR_025588 O43826:p.Gly68Arg SP substitution exon 1 VAR_025589 O43826:p.Leu85Pro SP substitution exon 1 VAR_025590 O43826:p.Gly88Asp SP substitution exon 1 VAR_025591 O43826:p.Gln133Pro SP substitution exon 1 VAR_025592 O43826:p.Gly150Arg SP substitution exon 1 VAR_025593 O43826:p.Pro153Leu SP substitution exon 1 VAR_025594 O43826:p.Cys176Arg SP substitution exon 1 VAR_025595 O43826:p.Cys183Arg SP substitution exon 1 VAR_025596 O43826:p.Asn198Ile SP substitution exon 1 VAR_025597 O43826:p.Leu229Pro SP substitution exon 1 VAR_025598 O43826:p.Ile278Asn SP substitution exon 1 VAR_025599 O43826:p.Arg300His SP substitution exon 1 VAR_025600 O43826:p.His301Pro SP substitution exon 1 VAR_025601 O43826:p.Gly339Asp SP substitution exon 1 VAR_025602 O43826:p.Ala367Thr SP substitution exon 1 VAR_025603 O43826:p.Ala373Asp SP substitution exon 1 VAR_025604 O43826:p.Gly376Ser SP substitution exon 1 VAR_025605 P49768:p.Ala431Glu SP substitution exon 1 VAR_025606 Q9BUJ2:p.Gly91Cys SP substitution exon 1 VAR_025607 Q5VWZ2:p.Ile131Met SP substitution exon 1 VAR_025608 Q9NXG0:p.Arg562Cys SP substitution exon 1 VAR_025609 Q9NXG0:p.Thr695Ile SP substitution exon 1 VAR_025610 Q9NXG0:p.Thr1376Ala SP substitution exon 1 VAR_025611 Q8NE28:p.Lys473Glu SP substitution exon 1 VAR_025612 Q8NE28:p.Arg568Gln SP substitution exon 1 VAR_025613 P04839:p.Tyr41Asp SP substitution exon 1 VAR_025614 P04839:p.Arg54Met SP substitution exon 1 VAR_025615 P04839:p.Ala55Asp SP substitution exon 1 VAR_025616 P04839:p.His209Arg SP substitution exon 1 VAR_025617 P04839:p.Ala224Gly SP substitution exon 1 VAR_025625 Q9H069:p.Arg191Trp SP substitution exon 1 VAR_025626 Q8IYR2:p.Arg131Ile SP substitution exon 1 VAR_025628 Q8IYR2:p.Arg562Trp SP substitution exon 1 VAR_025630 Q8WWY3:p.Ala194Glu SP substitution exon 1 VAR_025631 Q8WWY3:p.Ala216Pro SP substitution exon 1 VAR_025632 O60481:p.Pro217Ala SP substitution exon 1 VAR_025633 O60481:p.Cys253Ser SP substitution exon 1 VAR_025634 O60481:p.His286Arg SP substitution exon 1 VAR_025635 O60481:p.Lys405Glu SP substitution exon 1 VAR_025636 P10645:p.Glu176Lys SP substitution exon 1 VAR_025637 P10645:p.Glu264Asp SP substitution exon 1 VAR_025638 P10645:p.Arg271Trp SP substitution exon 1 VAR_025639 P10645:p.Ala274Gly SP substitution exon 1 VAR_025640 P10645:p.Gly315Ser SP substitution exon 1 VAR_025641 P10645:p.Leu332Pro SP substitution exon 1 VAR_025642 P10645:p.Asp369Asn SP substitution exon 1 VAR_025643 P10645:p.Gly382Ser SP substitution exon 1 VAR_025644 P10645:p.Pro388Leu SP substitution exon 1 VAR_025645 P10645:p.Arg399Trp SP substitution exon 1 VAR_025647 Q7Z5Q5:p.Gln121His SP substitution exon 1 VAR_025648 Q7Z5Q5:p.Arg201Gly SP substitution exon 1 VAR_025649 Q7Z5Q5:p.Met310Leu SP substitution exon 1 VAR_025650 Q7Z5Q5:p.Pro315Ser SP substitution exon 1 VAR_025651 Q7Z5Q5:p.Gly336Ser SP substitution exon 1 VAR_025652 Q7Z5Q5:p.Arg425Cys SP substitution exon 1 VAR_025653 Q7Z5Q5:p.Ser502Gly SP substitution exon 1 VAR_025654 Q7Z5Q5:p.Phe711Leu SP substitution exon 1 VAR_025655 P00450:p.Ile63Thr SP substitution exon 1 VAR_025656 P00450:p.Pro477Leu SP substitution exon 1 VAR_025657 P00450:p.Asp544Glu SP substitution exon 1 VAR_025658 P00450:p.Thr551Ile SP substitution exon 1 VAR_025659 P00450:p.Arg793His SP substitution exon 1 VAR_025660 P00450:p.Thr841Arg SP substitution exon 1 VAR_025661 Q9NQW6:p.Ser65Trp SP substitution exon 1 VAR_025662 Q9NQW6:p.Arg185Lys SP substitution exon 1 VAR_025663 Q9NZI5:p.Asn191Ser SP substitution exon 1 VAR_025664 Q9NZI5:p.Val397Ile SP substitution exon 1 VAR_025665 Q9Y5J6:p.Gly90Ser SP substitution exon 1 VAR_025666 P42702:p.Ser279Pro SP substitution exon 1 VAR_025668 Q5DID0:p.Val173Leu SP substitution exon 1 VAR_025669 Q5DID0:p.Asn274Asp SP substitution exon 1 VAR_025670 Q5DID0:p.Asn274His SP substitution exon 1 VAR_025671 Q5DID0:p.Arg447Gln SP substitution exon 1 VAR_025672 Q5DID0:p.Met559Thr SP substitution exon 1 VAR_025673 Q5DID0:p.Ile639Thr SP substitution exon 1 VAR_025674 Q5DID0:p.Thr698Pro SP substitution exon 1 VAR_025675 Q5DID0:p.Val850Ile SP substitution exon 1 VAR_025676 Q5DID0:p.Ser1027Asn SP substitution exon 1 VAR_025677 Q5DID0:p.Gly1068Ser SP substitution exon 1 VAR_025678 Q5DID0:p.Glu1115Lys SP substitution exon 1 VAR_025679 Q5DID0:p.Asp1208Asn SP substitution exon 1 VAR_025681 Q9H9P8:p.Leu18Arg SP substitution exon 1 VAR_025682 Q9H9P8:p.Gly55Asp SP substitution exon 1 VAR_025683 Q9H9P8:p.Gly57Arg SP substitution exon 1 VAR_025684 Q9H9P8:p.Lys81Glu SP substitution exon 1 VAR_025685 Q9H9P8:p.His98Arg SP substitution exon 1 VAR_025686 Q9H9P8:p.His98Tyr SP substitution exon 1 VAR_025687 Q9H9P8:p.Glu176Asp SP substitution exon 1 VAR_025688 Q9H9P8:p.Tyr178Phe SP substitution exon 1 VAR_025689 Q9H9P8:p.Pro302Leu SP substitution exon 1 VAR_025690 Q9H9P8:p.His434Pro SP substitution exon 1 VAR_025691 Q9BY79:p.Arg54Gly SP substitution exon 1 VAR_025692 Q9BY79:p.Ile119Val SP substitution exon 1 VAR_025693 Q9BY79:p.Val136Met SP substitution exon 1 VAR_025694 Q9BY79:p.Ile182Thr SP substitution exon 1 VAR_025695 Q9BY79:p.Gly449Ser SP substitution exon 1 VAR_025696 Q9BY79:p.Gln514His SP substitution exon 1 VAR_025697 Q9H497:p.Phe13Leu SP substitution exon 1 VAR_025698 Q13103:p.Ser38Phe SP substitution exon 1 VAR_025699 Q7LG56:p.Val115Leu SP substitution exon 1 VAR_025701 Q96H96:p.Tyr247Cys SP substitution exon 1 VAR_025702 Q5HYK3:p.Ala152Thr SP substitution exon 1 VAR_025703 Q96MF6:p.Pro79His SP substitution exon 1 VAR_025704 Q9H9Q4:p.Arg57Gly SP substitution exon 1 VAR_025705 Q9H9Q4:p.Cys123Arg SP substitution exon 1 VAR_025706 Q8N130:p.Arg67His SP substitution exon 1 VAR_025707 Q8N130:p.Ser138Phe SP substitution exon 1 VAR_025708 Q8N130:p.Gly180Ala SP substitution exon 1 VAR_025709 Q8N130:p.Ser192Leu SP substitution exon 1 VAR_025710 Q8N130:p.Gly196Arg SP substitution exon 1 VAR_025711 Q8N130:p.Asp237Asn SP substitution exon 1 VAR_025712 Q8N130:p.Gly337Ser SP substitution exon 1 VAR_025713 Q8N130:p.Arg353Leu SP substitution exon 1 VAR_025714 Q8N130:p.Ala413Glu SP substitution exon 1 VAR_025715 Q8N130:p.Arg468Trp SP substitution exon 1 VAR_025716 Q8N130:p.Glu513Val SP substitution exon 1 VAR_025717 Q5JTV8:p.Met146Thr SP substitution exon 1 VAR_025718 Q5JTV8:p.Pro276Arg SP substitution exon 1 VAR_025719 Q9H2D6:p.Gly1019Arg SP substitution exon 1 VAR_025720 Q9UK00:p.Ala8Asp SP substitution exon 1 VAR_025721 Q9UK00:p.Ala162Val SP substitution exon 1 VAR_025722 Q8ND61:p.Ala176Thr SP substitution exon 1 VAR_025723 Q14353:p.Thr209Met SP substitution exon 1 VAR_025727 Q9NRP7:p.Lys463Asn SP substitution exon 1 VAR_025728 Q9NRP7:p.Ser767Thr SP substitution exon 1 VAR_025729 Q9NRP7:p.Gly1003Asp SP substitution exon 1 VAR_025730 Q9NZI7:p.Thr212Ala SP substitution exon 1 VAR_025731 O76090:p.Arg105Cys SP substitution exon 1 VAR_025732 O76090:p.Phe113Leu SP substitution exon 1 VAR_025733 O76090:p.Ile201Thr SP substitution exon 1 VAR_025734 O76090:p.Leu207Ile SP substitution exon 1 VAR_025735 O76090:p.Cys221Trp SP substitution exon 1 VAR_025736 O76090:p.Gly222Val SP substitution exon 1 VAR_025737 O76090:p.Leu224Pro SP substitution exon 1 VAR_025738 O76090:p.Thr241Asn SP substitution exon 1 VAR_025739 O76090:p.Ala243Thr SP substitution exon 1 VAR_025740 O76090:p.Val275Ile SP substitution exon 1 VAR_025741 O76090:p.Phe276Leu SP substitution exon 1 VAR_025742 O76090:p.Leu294Val SP substitution exon 1 VAR_025743 O76090:p.Ile295Thr SP substitution exon 1 VAR_025744 O76090:p.Asn296His SP substitution exon 1 VAR_025745 O76090:p.Phe298Ser SP substitution exon 1 VAR_025746 O76090:p.Asp302Gly SP substitution exon 1 VAR_025747 O76090:p.Asp302His SP substitution exon 1 VAR_025748 O76090:p.Asp302Val SP substitution exon 1 VAR_025749 O76090:p.Asp303Glu SP substitution exon 1 VAR_025750 O76090:p.Glu306Asp SP substitution exon 1 VAR_025751 O76090:p.Glu306Gly SP substitution exon 1 VAR_025752 O76090:p.Thr307Ala SP substitution exon 1 VAR_025753 O76090:p.Asn308Ser SP substitution exon 1 VAR_025754 Q9NWS8:p.Thr132Met SP substitution exon 1 VAR_025755 Q5VZ03:p.Ser76Cys SP substitution exon 1 VAR_025756 Q9HBH7:p.Ala40Val SP substitution exon 1 VAR_025757 Q9HBH7:p.Met66Ile SP substitution exon 1 VAR_025758 Q8TF63:p.Thr75Pro SP substitution exon 1 VAR_025759 Q8TF63:p.Asn97Asp SP substitution exon 1 VAR_025760 O75445:p.Ala125Thr SP substitution exon 1 VAR_025761 O75445:p.Cys163Tyr SP substitution exon 1 VAR_025762 O75445:p.Val218Glu SP substitution exon 1 VAR_025763 O75445:p.Val230Met SP substitution exon 1 VAR_025764 O75445:p.Cys319Tyr SP substitution exon 1 VAR_025765 O75445:p.Arg334Trp SP substitution exon 1 VAR_025766 O75445:p.Asn346His SP substitution exon 1 VAR_025767 O75445:p.Cys419Phe SP substitution exon 1 VAR_025768 O75445:p.Glu478Asp SP substitution exon 1 VAR_025769 O75445:p.Cys536Arg SP substitution exon 1 VAR_025770 O75445:p.Leu555Val SP substitution exon 1 VAR_025771 O75445:p.His610Pro SP substitution exon 1 VAR_025772 O75445:p.Asp644Val SP substitution exon 1 VAR_025773 O75445:p.Asp703Glu SP substitution exon 1 VAR_025774 O75445:p.Gly713Arg SP substitution exon 1 VAR_025775 O75445:p.Cys759Phe SP substitution exon 1 VAR_025776 O75445:p.Pro761Arg SP substitution exon 1 VAR_025777 O75445:p.Ser841Tyr SP substitution exon 1 VAR_025778 O75445:p.Arg1486Lys SP substitution exon 1 VAR_025779 O75445:p.Thr1515Met SP substitution exon 1 VAR_025780 O75445:p.Arg4115Cys SP substitution exon 1 VAR_025781 O75445:p.Thr4425Met SP substitution exon 1 VAR_025782 Q8IYG6:p.Arg507Gly SP substitution exon 1 VAR_025783 Q8IYG6:p.Asp523His SP substitution exon 1 VAR_025784 P07202:p.Glu378Lys SP substitution exon 1 VAR_025786 Q7Z4G4:p.Leu230Gln SP substitution exon 1 VAR_025787 Q9Y226:p.Val43Ile SP substitution exon 1 VAR_025788 Q9Y226:p.Leu443Phe SP substitution exon 1 VAR_025789 Q15067:p.Gly178Cys SP substitution exon 1 VAR_025790 Q15067:p.Met278Val SP substitution exon 1 VAR_025791 Q9H993:p.Pro77Arg SP substitution exon 1 VAR_025792 O60934:p.Ser93Leu SP substitution exon 1 VAR_025793 O60934:p.Asp95Asn SP substitution exon 1 VAR_025794 O60934:p.Lys105Asn SP substitution exon 1 VAR_025795 O60934:p.Leu150Phe SP substitution exon 1 VAR_025796 O60934:p.Ile171Val SP substitution exon 1 VAR_025797 O60934:p.Glu185Gln SP substitution exon 1 VAR_025798 O60934:p.Val210Phe SP substitution exon 1 VAR_025799 O60934:p.Arg215Trp SP substitution exon 1 VAR_025800 O60934:p.Gln216Lys SP substitution exon 1 VAR_025801 O60934:p.Pro266Leu SP substitution exon 1 VAR_025802 O60934:p.Thr497Ala SP substitution exon 1 VAR_025803 O60934:p.Leu574Ile SP substitution exon 1 VAR_025804 P38117:p.Asp128Asn SP substitution exon 1 VAR_025805 Q9BUZ4:p.Ala173Thr SP substitution exon 1 VAR_025806 Q8TAT5:p.Arg38Cys SP substitution exon 1 VAR_025808 Q8TAT5:p.Val76Met SP substitution exon 1 VAR_025809 Q8TAT5:p.Gln172His SP substitution exon 1 VAR_025810 Q8TAT5:p.His286Arg SP substitution exon 1 VAR_025811 Q8TAT5:p.Ile346Val SP substitution exon 1 VAR_025812 Q8TAT5:p.Gln471His SP substitution exon 1 VAR_025813 Q8TAT5:p.Ala547Ser SP substitution exon 1 VAR_025814 Q8TAT5:p.His556Arg SP substitution exon 1 VAR_025815 P11021:p.Asn543His SP substitution exon 1 VAR_025816 Q14790:p.Ser219Thr SP substitution exon 1 VAR_025817 Q9NUW8:p.Glu95Asp SP substitution exon 1 VAR_025818 Q9NUW8:p.Pro101Leu SP substitution exon 1 VAR_025819 Q9NUW8:p.Ala134Thr SP substitution exon 1 VAR_025820 Q9NUW8:p.Asp187Gly SP substitution exon 1 VAR_025821 Q9NUW8:p.Arg304Gln SP substitution exon 1 VAR_025822 Q9NUW8:p.Thr569Ala SP substitution exon 1 VAR_025823 P11766:p.Leu163Ser SP substitution exon 1 VAR_025825 P29966:p.Pro250Leu SP substitution exon 1 VAR_025826 P29966:p.Ala274Val SP substitution exon 1 VAR_025827 Q9BXW9:p.Lys33Arg SP substitution exon 1 VAR_025828 Q9BXW9:p.Thr61Met SP substitution exon 1 VAR_025829 Q9BXW9:p.Gln65His SP substitution exon 1 VAR_025830 Q9BXW9:p.Ile172Met SP substitution exon 1 VAR_025831 Q9BXW9:p.Thr193Ala SP substitution exon 1 VAR_025832 Q9BXW9:p.Arg328Gln SP substitution exon 1 VAR_025833 Q9BXW9:p.Leu446Val SP substitution exon 1 VAR_025834 Q9BXW9:p.Leu456Arg SP substitution exon 1 VAR_025835 Q9BXW9:p.Gln623Pro SP substitution exon 1 VAR_025836 Q9BXW9:p.Lys865Arg SP substitution exon 1 VAR_025837 Q9BXW9:p.Gly901Val SP substitution exon 1 VAR_025838 P12277:p.Lys177Arg SP substitution exon 1 VAR_025839 P12277:p.Ser309Leu SP substitution exon 1 VAR_025840 P02795:p.Ala42Val SP substitution exon 1 VAR_025847 Q9Y5S2:p.Ile1077Val SP substitution exon 1 VAR_025848 O43548:p.Thr109Met SP substitution exon 1 VAR_025849 O43548:p.Gly113Cys SP substitution exon 1 VAR_025850 Q8NES3:p.Phe188Leu SP substitution exon 1 VAR_025851 P31213:p.Arg145Trp SP substitution exon 1 VAR_025852 P31213:p.Pro181Leu SP substitution exon 1 VAR_025853 P31213:p.Tyr235Phe SP substitution exon 1 VAR_025854 P31213:p.Gly123Arg SP substitution exon 1 VAR_025855 P31213:p.Gln126Arg SP substitution exon 1 VAR_025856 P31213:p.Gly158Arg SP substitution exon 1 VAR_025857 P31213:p.Ala207Asp SP substitution exon 1 VAR_025858 Q8N6Q3:p.Ala3Pro SP substitution exon 1 VAR_025859 Q8N6Q3:p.Leu251Ile SP substitution exon 1 VAR_025860 Q8N6Q3:p.Ala348Thr SP substitution exon 1 VAR_025861 Q8N573:p.Glu100Gly SP substitution exon 1 VAR_025862 Q8N573:p.Gln360Pro SP substitution exon 1 VAR_025864 P08603:p.Arg78Gly SP substitution exon 1 VAR_025865 P08603:p.Cys630Trp SP substitution exon 1 VAR_025866 P08603:p.Glu850Lys SP substitution exon 1 VAR_025867 P08603:p.Gln950His SP substitution exon 1 VAR_025868 P08603:p.Tyr951His SP substitution exon 1 VAR_025869 P08603:p.Thr956Met SP substitution exon 1 VAR_025870 P08603:p.Trp978Cys SP substitution exon 1 VAR_025871 P08603:p.Tyr1021Phe SP substitution exon 1 VAR_025872 P08603:p.Cys1043Arg SP substitution exon 1 VAR_025873 P08603:p.Gln1076Glu SP substitution exon 1 VAR_025874 P08603:p.Asp1119Gly SP substitution exon 1 VAR_025875 P08603:p.Val1134Gly SP substitution exon 1 VAR_025876 P08603:p.Tyr1142Asp SP substitution exon 1 VAR_025877 P08603:p.Trp1157Arg SP substitution exon 1 VAR_025878 P08603:p.Cys1163Trp SP substitution exon 1 VAR_025879 P08603:p.Trp1183Leu SP substitution exon 1 VAR_025880 P08603:p.Trp1183Arg SP substitution exon 1 VAR_025881 P08603:p.Thr1184Arg SP substitution exon 1 VAR_025882 P08603:p.Gly1194Asp SP substitution exon 1 VAR_025883 P08603:p.Val1197Ala SP substitution exon 1 VAR_025884 P08603:p.Glu1198Ala SP substitution exon 1 VAR_025885 P08603:p.Arg1210Cys SP substitution exon 1 VAR_025886 P08603:p.Arg1215Gly SP substitution exon 1 VAR_025887 P08603:p.Arg1215Gln SP substitution exon 1 VAR_025888 P08603:p.Pro1226Ser SP substitution exon 1 VAR_025889 Q8N465:p.Arg15Gly SP substitution exon 1 VAR_025890 Q8N465:p.Ile147Ser SP substitution exon 1 VAR_025891 Q8N465:p.Asp375Tyr SP substitution exon 1 VAR_025895 O00116:p.Thr309Ile SP substitution exon 1 VAR_025896 O00116:p.Leu469Pro SP substitution exon 1 VAR_025897 O15228:p.Asp519Gly SP substitution exon 1 VAR_025898 P04179:p.Gly76Arg SP substitution exon 1 VAR_025899 Q9NY57:p.Arg198Gly SP substitution exon 1 VAR_025900 Q86UX6:p.Thr334Ala SP substitution exon 1 VAR_025901 P30518:p.Arg137Cys SP substitution exon 1 VAR_025902 P30518:p.Arg137Leu SP substitution exon 1 VAR_025903 P05186:p.Ser17Phe SP substitution exon 1 VAR_025904 P05186:p.Ala51Ser SP substitution exon 1 VAR_025905 P05186:p.Met62Val SP substitution exon 1 VAR_025906 P05186:p.Gly63Arg SP substitution exon 1 VAR_025907 P05186:p.Thr68Met SP substitution exon 1 VAR_025908 P05186:p.Arg71Ser SP substitution exon 1 VAR_025909 P05186:p.Gln76Arg SP substitution exon 1 VAR_025910 P05186:p.Pro108Leu SP substitution exon 1 VAR_025911 P05186:p.Ala114Gly SP substitution exon 1 VAR_025912 P05186:p.Val128Met SP substitution exon 1 VAR_025913 P05186:p.Thr134His SP substitution exon 1 VAR_025914 P05186:p.Thr148Ile SP substitution exon 1 VAR_025915 P05186:p.Gly162Ser SP substitution exon 1 VAR_025916 P05186:p.His171Arg SP substitution exon 1 VAR_025917 P05186:p.Asp189Glu SP substitution exon 1 VAR_025918 P05186:p.Ile212Phe SP substitution exon 1 VAR_025919 P05186:p.Gly220Ala SP substitution exon 1 VAR_025920 P05186:p.Arg223Gln SP substitution exon 1 VAR_025921 P05186:p.Arg272His SP substitution exon 1 VAR_025922 P05186:p.Arg272Leu SP substitution exon 1 VAR_025923 P05186:p.Leu275Pro SP substitution exon 1 VAR_025924 P05186:p.Pro292Thr SP substitution exon 1 VAR_025926 P05186:p.Met295Thr SP substitution exon 1 VAR_025927 P05186:p.Tyr297Asp SP substitution exon 1 VAR_025928 P05186:p.Glu298Lys SP substitution exon 1 VAR_025929 P05186:p.Leu299Pro SP substitution exon 1 VAR_025930 P05186:p.Glu311Lys SP substitution exon 1 VAR_025932 P05186:p.Gly339Arg SP substitution exon 1 VAR_025933 P05186:p.Glu354Asp SP substitution exon 1 VAR_025934 P05186:p.Arg391His SP substitution exon 1 VAR_025935 P05186:p.Thr411Ala SP substitution exon 1 VAR_025936 P05186:p.Leu414Met SP substitution exon 1 VAR_025937 P05186:p.Asn417Ser SP substitution exon 1 VAR_025938 P05186:p.Gly426Asp SP substitution exon 1 VAR_025939 P05186:p.Glu452Lys SP substitution exon 1 VAR_025940 P05186:p.Ala468Thr SP substitution exon 1 VAR_025941 Q8NC60:p.Ala153Ser SP substitution exon 1 VAR_025942 Q8NC60:p.Lys450Arg SP substitution exon 1 VAR_025943 Q7Z570:p.Gln261Leu SP substitution exon 1 VAR_025944 Q7Z570:p.Glu542Lys SP substitution exon 1 VAR_025945 Q7Z570:p.Thr707Lys SP substitution exon 1 VAR_025946 Q7Z570:p.His747Arg SP substitution exon 1 VAR_025947 Q7Z570:p.Leu1081Val SP substitution exon 1 VAR_025948 Q8N7X0:p.Ile310Thr SP substitution exon 1 VAR_025950 P07911:p.Cys77Tyr SP substitution exon 1 VAR_025952 P07911:p.Cys126Arg SP substitution exon 1 VAR_025953 P07911:p.Asn128Ser SP substitution exon 1 VAR_025954 P07911:p.Cys148Trp SP substitution exon 1 VAR_025955 P07911:p.Cys150Ser SP substitution exon 1 VAR_025956 P07911:p.Cys223Tyr SP substitution exon 1 VAR_025957 P07911:p.Thr225Lys SP substitution exon 1 VAR_025958 P07911:p.Cys248Trp SP substitution exon 1 VAR_025959 P07911:p.Cys255Tyr SP substitution exon 1 VAR_025960 P07911:p.Cys300Gly SP substitution exon 1 VAR_025961 P07911:p.Cys315Arg SP substitution exon 1 VAR_025962 P07911:p.Cys317Tyr SP substitution exon 1 VAR_025963 Q8NI36:p.Leu25Pro SP substitution exon 1 VAR_025964 Q8NI36:p.Ala163Val SP substitution exon 1 VAR_025965 Q8NI36:p.Tyr216Pro SP substitution exon 1 VAR_025966 Q8NI36:p.Asn355Ser SP substitution exon 1 VAR_025967 Q8NI36:p.Ala449Thr SP substitution exon 1 VAR_025968 Q8NI36:p.Arg529Gln SP substitution exon 1 VAR_025969 Q8NI36:p.Asp658Gly SP substitution exon 1 VAR_025970 Q8NI36:p.Met671Val SP substitution exon 1 VAR_025971 P15918:p.Cys328Tyr SP substitution exon 1 VAR_025972 P15918:p.Arg396Leu SP substitution exon 1 VAR_025973 P15918:p.Ser401Pro SP substitution exon 1 VAR_025974 P15918:p.Arg410Gln SP substitution exon 1 VAR_025975 P15918:p.Val433Met SP substitution exon 1 VAR_025976 P15918:p.Met435Val SP substitution exon 1 VAR_025977 P15918:p.Ala444Val SP substitution exon 1 VAR_025978 P15918:p.Arg474His SP substitution exon 1 VAR_025979 P15918:p.Arg507Trp SP substitution exon 1 VAR_025980 P15918:p.Trp522Cys SP substitution exon 1 VAR_025981 P15918:p.Arg559Ser SP substitution exon 1 VAR_025982 P15918:p.Arg624Cys SP substitution exon 1 VAR_025983 P15918:p.Glu669Gly SP substitution exon 1 VAR_025984 P15918:p.His753Leu SP substitution exon 1 VAR_025985 P15918:p.Arg841Trp SP substitution exon 1 VAR_025986 P15918:p.Asn855Ile SP substitution exon 1 VAR_025987 P15918:p.Arg975Gln SP substitution exon 1 VAR_025988 P15918:p.Gln981Pro SP substitution exon 1 VAR_025989 P26678:p.Arg9Cys SP substitution exon 1 VAR_025991 Q6EMK4:p.Glu384Ala SP substitution exon 1 VAR_025992 Q9BZV2:p.Gly23Val SP substitution exon 1 VAR_025993 Q9BZV2:p.Thr422Ala SP substitution exon 1 VAR_025994 O00767:p.Met224Leu SP substitution exon 1 VAR_025995 Q8WXG9:p.Leu127Arg SP substitution exon 1 VAR_025996 Q8WXG9:p.Arg249Lys SP substitution exon 1 VAR_025997 Q8WXG9:p.Leu1093Phe SP substitution exon 1 VAR_025998 Q8WXG9:p.Thr1927Met SP substitution exon 1 VAR_025999 Q8WXG9:p.Val1951Ile SP substitution exon 1 VAR_026000 Q8WXG9:p.Asn1985Asp SP substitution exon 1 VAR_026001 Q8WXG9:p.Pro1987Leu SP substitution exon 1 VAR_026002 Q8WXG9:p.Leu2004Phe SP substitution exon 1 VAR_026003 Q8WXG9:p.Tyr2232Cys SP substitution exon 1 VAR_026004 Q8WXG9:p.Asn2345Ser SP substitution exon 1 VAR_026005 Q8WXG9:p.Gly2379Ala SP substitution exon 1 VAR_026006 Q8WXG9:p.Asn2584Ser SP substitution exon 1 VAR_026007 Q8WXG9:p.Ser2764Leu SP substitution exon 1 VAR_026008 Q8WXG9:p.Ala2803Thr SP substitution exon 1 VAR_026009 Q8WXG9:p.Ala3217Val SP substitution exon 1 VAR_026010 Q8WXG9:p.Gly3248Asp SP substitution exon 1 VAR_026011 Q8WXG9:p.Glu3471Lys SP substitution exon 1 VAR_026012 Q8WXG9:p.Glu5344Gly SP substitution exon 1 VAR_026013 Q8WXG9:p.Thr5437Ala SP substitution exon 1 VAR_026014 Q9BZ71:p.Ala80Thr SP substitution exon 1 VAR_026015 Q15466:p.Arg57Trp SP substitution exon 1 VAR_026016 Q15466:p.Gly189Glu SP substitution exon 1 VAR_026017 Q15466:p.Ala195Ser SP substitution exon 1 VAR_026018 Q15466:p.Arg213Cys SP substitution exon 1 VAR_026019 Q15466:p.Arg216His SP substitution exon 1 VAR_026020 Q9BZA8:p.Val917Phe SP substitution exon 1 VAR_026021 Q9BZA8:p.Asn1012Lys SP substitution exon 1 VAR_026022 O43602:p.Thr123Ile SP substitution exon 1 VAR_026023 O43602:p.Lys131Asn SP substitution exon 1 VAR_026024 O43602:p.Asn141Asp SP substitution exon 1 VAR_026025 O43602:p.Gly148Glu SP substitution exon 1 VAR_026026 O43602:p.Ala152Ser SP substitution exon 1 VAR_026027 O43602:p.Leu178Arg SP substitution exon 1 VAR_026028 O43602:p.Ile185Thr SP substitution exon 1 VAR_026029 O43602:p.Arg259Cys SP substitution exon 1 VAR_026030 O43602:p.Pro272Leu SP substitution exon 1 VAR_026031 O43602:p.Arg277His SP substitution exon 1 VAR_026032 O43602:p.Arg277Ser SP substitution exon 1 VAR_026033 O43602:p.Asn281Ile SP substitution exon 1 VAR_026034 O43602:p.Thr284Ala SP substitution exon 1 VAR_026035 O43602:p.Gly304Val SP substitution exon 1 VAR_026036 O43602:p.Phe324Leu SP substitution exon 1 VAR_026037 O43602:p.Ala332Ser SP substitution exon 1 VAR_026038 O43602:p.Ala332Val SP substitution exon 1 VAR_026039 Q8N485:p.Arg3Ile SP substitution exon 1 VAR_026042 Q6UB98:p.Pro277Ala SP substitution exon 1 VAR_026043 Q03701:p.Val102Ile SP substitution exon 1 VAR_026044 P04350:p.Ala365Val SP substitution exon 1 VAR_026045 Q9UIF7:p.Tyr125His SP substitution exon 1 VAR_026046 Q9UIF7:p.Trp128Arg SP substitution exon 1 VAR_026047 Q9UIF7:p.Arg179His SP substitution exon 1 VAR_026048 Q9UIF7:p.Arg238Trp SP substitution exon 1 VAR_026049 Q9UIF7:p.Pro402Ser SP substitution exon 1 VAR_026050 Q9UIF7:p.Gln411Arg SP substitution exon 1 VAR_026052 Q15198:p.His23Tyr SP substitution exon 1 VAR_026053 Q96FX7:p.Val66Ala SP substitution exon 1 VAR_026054 Q9BRG2:p.Asn32Asp SP substitution exon 1 VAR_026055 Q9H788:p.Glu216Gly SP substitution exon 1 VAR_026056 Q9H788:p.Gly263Ala SP substitution exon 1 VAR_026057 Q8N1V2:p.Glu336Lys SP substitution exon 1 VAR_026058 O75695:p.Arg118Cys SP substitution exon 1 VAR_026084 P00533:p.Glu709Ala SP substitution exon 1 VAR_026085 P00533:p.Glu709Lys SP substitution exon 1 VAR_026086 P00533:p.Gly719Ala SP substitution exon 1 VAR_026087 P00533:p.Gly719Cys SP substitution exon 1 VAR_026088 P00533:p.Gly719Asp SP substitution exon 1 VAR_026089 P00533:p.Gly724Ser SP substitution exon 1 VAR_026090 P00533:p.Glu734Lys SP substitution exon 1 VAR_026093 P00533:p.Leu747Phe SP substitution exon 1 VAR_026095 P00533:p.Arg748Pro SP substitution exon 1 VAR_026097 P00533:p.Gln787Arg SP substitution exon 1 VAR_026098 P00533:p.Thr790Met SP substitution exon 1 VAR_026099 P00533:p.Leu833Val SP substitution exon 1 VAR_026100 P00533:p.Val834Leu SP substitution exon 1 VAR_026101 P00533:p.Leu858Met SP substitution exon 1 VAR_026102 P00533:p.Leu861Gln SP substitution exon 1 VAR_026103 P00533:p.Gly873Glu SP substitution exon 1 VAR_026104 Q03154:p.Glu233Asp SP substitution exon 1 VAR_026105 Q03154:p.Arg353Cys SP substitution exon 1 VAR_026106 P01112:p.Gly12Ala SP substitution exon 1 VAR_026107 P01112:p.Gly13Cys SP substitution exon 1 VAR_026108 P01112:p.Gly13Asp SP substitution exon 1 VAR_026109 P01116:p.Val14Ile SP substitution exon 1 VAR_026110 P01116:p.Pro34Arg SP substitution exon 1 VAR_026111 P01116:p.Thr58Ile SP substitution exon 1 VAR_026112 P01116:p.Gly60Arg SP substitution exon 1 VAR_026113 P15056:p.Ala246Pro SP substitution exon 1 VAR_026114 P15056:p.Gln257Arg SP substitution exon 1 VAR_026115 P15056:p.Leu485Phe SP substitution exon 1 VAR_026116 P15056:p.Lys499Glu SP substitution exon 1 VAR_026117 P15056:p.Glu501Gly SP substitution exon 1 VAR_026118 P15056:p.Glu501Lys SP substitution exon 1 VAR_026119 P15056:p.Asn581Asp SP substitution exon 1 VAR_026120 P43026:p.Ser276Ala SP substitution exon 1 VAR_026121 Q14999:p.Gln813Arg SP substitution exon 1 VAR_026125 Q86SX6:p.Ala146Thr SP substitution exon 1 VAR_026126 Q5VT06:p.Glu945Gln SP substitution exon 1 VAR_026129 P16278:p.Arg59Cys SP substitution exon 1 VAR_026130 P16278:p.Arg68Trp SP substitution exon 1 VAR_026131 P16278:p.Asp151Tyr SP substitution exon 1 VAR_026132 P16278:p.Thr239Met SP substitution exon 1 VAR_026133 P16278:p.Leu436Phe SP substitution exon 1 VAR_026134 P22309:p.Pro34Gln SP substitution exon 1 VAR_026135 P22309:p.His39Asp SP substitution exon 1 VAR_026136 P22309:p.Phe83Leu SP substitution exon 1 VAR_026137 P22309:p.Val225Gly SP substitution exon 1 VAR_026138 P22309:p.Glu291Val SP substitution exon 1 VAR_026139 P22309:p.Ile294Thr SP substitution exon 1 VAR_026140 P22309:p.Arg336Leu SP substitution exon 1 VAR_026141 P22309:p.Arg336Gln SP substitution exon 1 VAR_026142 P22309:p.Arg336Trp SP substitution exon 1 VAR_026143 P22309:p.Trp354Arg SP substitution exon 1 VAR_026144 P22309:p.His376Arg SP substitution exon 1 VAR_026145 P22309:p.Gly377Val SP substitution exon 1 VAR_026146 P22309:p.Pro387Ser SP substitution exon 1 VAR_026147 P22309:p.Gly395Val SP substitution exon 1 VAR_026148 P22309:p.Arg403Cys SP substitution exon 1 VAR_026149 P22309:p.Trp461Arg SP substitution exon 1 VAR_026150 P22309:p.Ala478Asp SP substitution exon 1 VAR_026151 Q8TAW3:p.Ala149Val SP substitution exon 1 VAR_026152 Q2M3X9:p.Thr343Met SP substitution exon 1 VAR_026153 Q2M3X9:p.Pro412Leu SP substitution exon 1 VAR_026154 Q5SXM1:p.Lys144Glu SP substitution exon 1 VAR_026155 Q8IZ20:p.His204Asn SP substitution exon 1 VAR_026156 Q8N6Q3:p.Leu119Phe SP substitution exon 1 VAR_026157 Q8N6Q3:p.Arg323Gln SP substitution exon 1 VAR_026158 Q8N6Q3:p.Phe379Ser SP substitution exon 1 VAR_026159 Q2M243:p.Gln54Glu SP substitution exon 1 VAR_026160 Q2M243:p.Met267Thr SP substitution exon 1 VAR_026161 Q2M243:p.Thr353Met SP substitution exon 1 VAR_026162 Q2M329:p.Glu96Lys SP substitution exon 1 VAR_026164 Q8N4S0:p.Gln149Glu SP substitution exon 1 VAR_026165 Q8N4S0:p.Gln327Arg SP substitution exon 1 VAR_026166 P42336:p.Arg38His SP substitution exon 1 VAR_026167 P42336:p.Arg88Gln SP substitution exon 1 VAR_026168 P42336:p.Gly106Val SP substitution exon 1 VAR_026169 P42336:p.Tyr343Cys SP substitution exon 1 VAR_026170 P42336:p.Ile391Met SP substitution exon 1 VAR_026171 P42336:p.Cys420Arg SP substitution exon 1 VAR_026172 P42336:p.Glu453Gln SP substitution exon 1 VAR_026173 P42336:p.Glu542Lys SP substitution exon 1 VAR_026174 P42336:p.Glu542Gln SP substitution exon 1 VAR_026175 P42336:p.Glu542Val SP substitution exon 1 VAR_026176 P42336:p.Glu545Ala SP substitution exon 1 VAR_026177 P42336:p.Glu545Gly SP substitution exon 1 VAR_026178 P42336:p.Glu545Lys SP substitution exon 1 VAR_026179 P42336:p.Gln546Glu SP substitution exon 1 VAR_026180 P42336:p.Gln546Lys SP substitution exon 1 VAR_026181 P42336:p.Gln546Pro SP substitution exon 1 VAR_026182 P42336:p.Gln546Arg SP substitution exon 1 VAR_026183 P42336:p.Gly1007Arg SP substitution exon 1 VAR_026184 P42336:p.Tyr1021Cys SP substitution exon 1 VAR_026185 P42336:p.Tyr1021His SP substitution exon 1 VAR_026186 P42336:p.Tyr1021Asn SP substitution exon 1 VAR_026187 P42336:p.Arg1023Gln SP substitution exon 1 VAR_026188 P42336:p.Thr1025Asn SP substitution exon 1 VAR_026189 P42336:p.Ala1035Val SP substitution exon 1 VAR_026190 P42336:p.Met1043Ile SP substitution exon 1 VAR_026191 P42336:p.His1047Leu SP substitution exon 1 VAR_026192 P42336:p.His1047Arg SP substitution exon 1 VAR_026193 P42336:p.His1047Tyr SP substitution exon 1 VAR_026194 P42336:p.Gly1050Asp SP substitution exon 1 VAR_026195 P42336:p.Thr1052Lys SP substitution exon 1 VAR_026196 P42336:p.His1065Leu SP substitution exon 1 VAR_026197 P42336:p.His1065Tyr SP substitution exon 1 VAR_026198 Q5JT82:p.Asn156Ser SP substitution exon 1 VAR_026199 P51649:p.Cys93Phe SP substitution exon 1 VAR_026200 P51649:p.Gly176Arg SP substitution exon 1 VAR_026201 P51649:p.Cys223Tyr SP substitution exon 1 VAR_026202 P51649:p.Thr233Met SP substitution exon 1 VAR_026203 P51649:p.Asn255Ser SP substitution exon 1 VAR_026204 P51649:p.Gly268Glu SP substitution exon 1 VAR_026205 P51649:p.Asn335Lys SP substitution exon 1 VAR_026206 P51649:p.Pro382Leu SP substitution exon 1 VAR_026207 P51649:p.Pro382Gln SP substitution exon 1 VAR_026208 P51649:p.Gly409Asp SP substitution exon 1 VAR_026209 P51649:p.Val487Glu SP substitution exon 1 VAR_026210 P51649:p.Gly533Arg SP substitution exon 1 VAR_026211 P78410:p.Asn181Asp SP substitution exon 1 VAR_026212 Q14678:p.Asn206Lys SP substitution exon 1 VAR_026213 Q14678:p.Glu432Gln SP substitution exon 1 VAR_026214 Q8WXU2:p.Asn38Lys SP substitution exon 1 VAR_026215 Q8WXU2:p.Ala332Val SP substitution exon 1 VAR_026216 Q7Z6E9:p.Val555Ala SP substitution exon 1 VAR_026217 P39210:p.Arg50Gln SP substitution exon 1 VAR_026218 P39210:p.Arg50Trp SP substitution exon 1 VAR_026219 P39210:p.Asn166Lys SP substitution exon 1 VAR_026220 Q9Y4C1:p.Ile212Val SP substitution exon 1 VAR_026221 Q7LBC6:p.Ala256Thr SP substitution exon 1 VAR_026222 Q7LBC6:p.Ser1201Asn SP substitution exon 1 VAR_026223 O94953:p.Asn29Thr SP substitution exon 1 VAR_026224 O94953:p.Lys710Glu SP substitution exon 1 VAR_026225 Q6B0I6:p.Arg408Gln SP substitution exon 1 VAR_026226 Q96D31:p.Arg91Trp SP substitution exon 1 VAR_026227 P51649:p.Gly36Arg SP substitution exon 1 VAR_026228 P51649:p.Ala237Ser SP substitution exon 1 VAR_026229 P51649:p.Val406Ile SP substitution exon 1 VAR_026230 P13473:p.Trp321Arg SP substitution exon 1 VAR_026231 Q8TF08:p.His27Gln SP substitution exon 1 VAR_026232 O00462:p.Val253Ile SP substitution exon 1 VAR_026233 O00462:p.Thr701Met SP substitution exon 1 VAR_026234 Q13461:p.Gly196Ala SP substitution exon 1 VAR_026235 Q13461:p.Ser300Gly SP substitution exon 1 VAR_026236 Q8IV32:p.Gln317Leu SP substitution exon 1 VAR_026237 Q8IV32:p.Trp339Arg SP substitution exon 1 VAR_026238 Q6NSX1:p.Ile206Val SP substitution exon 1 VAR_026239 P49747:p.Pro276Arg SP substitution exon 1 VAR_026240 P49747:p.Asp420Ala SP substitution exon 1 VAR_026241 O95475:p.Thr165Ala SP substitution exon 1 VAR_026242 Q9Y653:p.Arg38Trp SP substitution exon 1 VAR_026243 Q9Y653:p.Tyr88Cys SP substitution exon 1 VAR_026244 Q9Y653:p.Cys91Ser SP substitution exon 1 VAR_026245 Q9Y653:p.Cys346Ser SP substitution exon 1 VAR_026248 P60484:p.Ser10Asn SP substitution exon 1 VAR_026249 P60484:p.Tyr16Cys SP substitution exon 1 VAR_026250 P60484:p.Gly20Glu SP substitution exon 1 VAR_026251 P60484:p.Tyr27Ser SP substitution exon 1 VAR_026252 P60484:p.Gly36Arg SP substitution exon 1 VAR_026253 P60484:p.His61Arg SP substitution exon 1 VAR_026254 P60484:p.Cys71Tyr SP substitution exon 1 VAR_026255 P60484:p.His93Tyr SP substitution exon 1 VAR_026256 P60484:p.Cys105Phe SP substitution exon 1 VAR_026257 P60484:p.Asp107Tyr SP substitution exon 1 VAR_026258 P60484:p.Leu112Arg SP substitution exon 1 VAR_026259 P60484:p.Ala121Pro SP substitution exon 1 VAR_026260 P60484:p.His123Tyr SP substitution exon 1 VAR_026261 P60484:p.Arg130Gly SP substitution exon 1 VAR_026262 P60484:p.Val133Ile SP substitution exon 1 VAR_026263 P60484:p.Tyr155Cys SP substitution exon 1 VAR_026264 P60484:p.Gly165Arg SP substitution exon 1 VAR_026265 P60484:p.Thr167Pro SP substitution exon 1 VAR_026266 P60484:p.Ser170Asn SP substitution exon 1 VAR_026267 P60484:p.Arg173Cys SP substitution exon 1 VAR_026268 P60484:p.Arg173His SP substitution exon 1 VAR_026269 P60484:p.Arg173Pro SP substitution exon 1 VAR_026270 P60484:p.Tyr174Asn SP substitution exon 1 VAR_026271 P60484:p.Val191Ala SP substitution exon 1 VAR_026272 P60484:p.Ser227Phe SP substitution exon 1 VAR_026273 P60484:p.Gly251Cys SP substitution exon 1 VAR_026275 P60484:p.Asp331Gly SP substitution exon 1 VAR_026276 P60484:p.Phe341Val SP substitution exon 1 VAR_026277 P60484:p.Lys342Asn SP substitution exon 1 VAR_026278 P60484:p.Leu345Gln SP substitution exon 1 VAR_026279 P60484:p.Thr348Ile SP substitution exon 1 VAR_026280 P60484:p.Val369Gly SP substitution exon 1 VAR_026281 P60484:p.Thr401Ile SP substitution exon 1 VAR_026282 Q96M95:p.Ala144Thr SP substitution exon 1 VAR_026283 Q86V48:p.Gly458Ser SP substitution exon 1 VAR_026284 Q86V48:p.Gln461Lys SP substitution exon 1 VAR_026285 Q86V48:p.Asp868Asn SP substitution exon 1 VAR_026286 Q86VP1:p.Leu307Ile SP substitution exon 1 VAR_026288 Q96J94:p.Lys491Asn SP substitution exon 1 VAR_026289 Q96J94:p.Arg527Lys SP substitution exon 1 VAR_026290 Q96J94:p.Leu575Pro SP substitution exon 1 VAR_026291 Q7Z3Z4:p.Gln327Leu SP substitution exon 1 VAR_026292 Q6UX71:p.Val396Ile SP substitution exon 1 VAR_026293 Q6UX71:p.Ile458Val SP substitution exon 1 VAR_026295 Q8NEP9:p.Lys515Thr SP substitution exon 1 VAR_026297 P78504:p.Ala31Val SP substitution exon 1 VAR_026298 P78504:p.Gly33Asp SP substitution exon 1 VAR_026299 P78504:p.Gly33Ser SP substitution exon 1 VAR_026300 P78504:p.Gly33Val SP substitution exon 1 VAR_026301 P78504:p.Ile39Ser SP substitution exon 1 VAR_026302 P78504:p.Leu40Pro SP substitution exon 1 VAR_026303 P78504:p.Val45Leu SP substitution exon 1 VAR_026304 P78504:p.Asn53Asp SP substitution exon 1 VAR_026305 P78504:p.Lys65Met SP substitution exon 1 VAR_026306 P78504:p.Phe75Ser SP substitution exon 1 VAR_026307 P78504:p.Cys78Ser SP substitution exon 1 VAR_026308 P78504:p.Cys92Arg SP substitution exon 1 VAR_026309 P78504:p.Cys92Tyr SP substitution exon 1 VAR_026310 P78504:p.Ile120Asn SP substitution exon 1 VAR_026311 P78504:p.Pro123Ser SP substitution exon 1 VAR_026312 P78504:p.Ala155Pro SP substitution exon 1 VAR_026313 P78504:p.Pro163Arg SP substitution exon 1 VAR_026314 P78504:p.Tyr181Asn SP substitution exon 1 VAR_026315 P78504:p.Cys187Tyr SP substitution exon 1 VAR_026316 P78504:p.Arg203Lys SP substitution exon 1 VAR_026317 P78504:p.Trp224Cys SP substitution exon 1 VAR_026318 P78504:p.Cys234Tyr SP substitution exon 1 VAR_026319 P78504:p.Arg252Gly SP substitution exon 1 VAR_026320 P78504:p.Gly256Ser SP substitution exon 1 VAR_026321 P78504:p.Pro269Leu SP substitution exon 1 VAR_026322 P78504:p.Cys271Arg SP substitution exon 1 VAR_026323 P78504:p.Asn504Ser SP substitution exon 1 VAR_026324 P78504:p.Tyr690Asp SP substitution exon 1 VAR_026325 P78504:p.Cys693Tyr SP substitution exon 1 VAR_026326 P78504:p.Cys714Tyr SP substitution exon 1 VAR_026327 P78504:p.Arg818Lys SP substitution exon 1 VAR_026328 P78504:p.Pro871Arg SP substitution exon 1 VAR_026329 P78504:p.Arg889Gln SP substitution exon 1 VAR_026330 P78504:p.Cys902Ser SP substitution exon 1 VAR_026331 P78504:p.His908Gln SP substitution exon 1 VAR_026332 P78504:p.Cys911Tyr SP substitution exon 1 VAR_026333 P78504:p.Ser913Arg SP substitution exon 1 VAR_026334 P78504:p.Leu921Pro SP substitution exon 1 VAR_026335 P78504:p.Arg937Gln SP substitution exon 1 VAR_026337 P78504:p.Arg1213Gln SP substitution exon 1 VAR_026338 P07498:p.Tyr75Cys SP substitution exon 1 VAR_026339 P07498:p.Arg110Leu SP substitution exon 1 VAR_026340 P07498:p.Ala145Thr SP substitution exon 1 VAR_026341 Q14524:p.Arg27His SP substitution exon 1 VAR_026342 Q14524:p.Arg34Cys SP substitution exon 1 VAR_026343 Q14524:p.Lys126Glu SP substitution exon 1 VAR_026344 Q14524:p.Glu161Lys SP substitution exon 1 VAR_026345 Q14524:p.Thr187Ile SP substitution exon 1 VAR_026346 Q14524:p.Ala226Val SP substitution exon 1 VAR_026347 Q14524:p.Ile230Val SP substitution exon 1 VAR_026348 Q14524:p.Arg282His SP substitution exon 1 VAR_026349 Q14524:p.Val294Met SP substitution exon 1 VAR_026350 Q14524:p.Gly319Ser SP substitution exon 1 VAR_026351 Q14524:p.Gly351Val SP substitution exon 1 VAR_026352 Q14524:p.Asp356Asn SP substitution exon 1 VAR_026353 Q14524:p.Arg367Cys SP substitution exon 1 VAR_026354 Q14524:p.Met369Lys SP substitution exon 1 VAR_026356 Q14524:p.Gly552Arg SP substitution exon 1 VAR_026357 Q14524:p.Leu567Gln SP substitution exon 1 VAR_026358 Q14524:p.Gly615Glu SP substitution exon 1 VAR_026359 Q14524:p.His681Pro SP substitution exon 1 VAR_026360 Q14524:p.Ala735Glu SP substitution exon 1 VAR_026361 Q14524:p.Gly752Arg SP substitution exon 1 VAR_026362 Q14524:p.Phe851Leu SP substitution exon 1 VAR_026363 Q14524:p.Phe892Ile SP substitution exon 1 VAR_026364 Q14524:p.Cys896Ser SP substitution exon 1 VAR_026365 Q14524:p.Ser910Leu SP substitution exon 1 VAR_026366 Q14524:p.Arg965Cys SP substitution exon 1 VAR_026367 Q14524:p.Arg1027Gln SP substitution exon 1 VAR_026368 Q14524:p.Glu1053Lys SP substitution exon 1 VAR_026369 Q14524:p.Glu1225Lys SP substitution exon 1 VAR_026370 Q14524:p.Lys1236Asn SP substitution exon 1 VAR_026371 Q14524:p.Glu1240Gln SP substitution exon 1 VAR_026372 Q14524:p.Phe1250Leu SP substitution exon 1 VAR_026373 Q14524:p.Asp1275Asn SP substitution exon 1 VAR_026374 Q14524:p.Phe1293Ser SP substitution exon 1 VAR_026375 Q14524:p.Gly1319Val SP substitution exon 1 VAR_026376 Q14524:p.Phe1344Ser SP substitution exon 1 VAR_026377 Q14524:p.Ser1382Ile SP substitution exon 1 VAR_026378 Q14524:p.Val1405Leu SP substitution exon 1 VAR_026379 Q14524:p.Gly1406Arg SP substitution exon 1 VAR_026382 Q14524:p.Gly1502Ser SP substitution exon 1 VAR_026383 Q14524:p.Asp1714Gly SP substitution exon 1 VAR_026384 Q14524:p.Gly1740Arg SP substitution exon 1 VAR_026385 Q14524:p.Gly1743Glu SP substitution exon 1 VAR_026386 Q14524:p.Val1951Leu SP substitution exon 1 VAR_026388 Q9BTX1:p.Gly154Asp SP substitution exon 1 VAR_026389 Q3SYG4:p.Gly141Arg SP substitution exon 1 VAR_026390 Q3SYG4:p.Ala455Val SP substitution exon 1 VAR_026391 Q8TAM1:p.Arg34Pro SP substitution exon 1 VAR_026392 Q8TAM1:p.Arg49Trp SP substitution exon 1 VAR_026393 Q8TAM1:p.Cys91Trp SP substitution exon 1 VAR_026394 Q8TAM1:p.Leu170Ser SP substitution exon 1 VAR_026395 Q8TAM1:p.Cys195Trp SP substitution exon 1 VAR_026396 Q8TAM1:p.Tyr197Cys SP substitution exon 1 VAR_026397 Q8TAM1:p.Val240Gly SP substitution exon 1 VAR_026398 Q8TAM1:p.Leu308Phe SP substitution exon 1 VAR_026399 Q8TAM1:p.Ser311Ala SP substitution exon 1 VAR_026400 Q8TAM1:p.Ser329Leu SP substitution exon 1 VAR_026401 Q8TAM1:p.Pro363Leu SP substitution exon 1 VAR_026402 Q8TAM1:p.Leu376Phe SP substitution exon 1 VAR_026403 Q8TAM1:p.Leu414Ser SP substitution exon 1 VAR_026404 Q8TAM1:p.Lys579Arg SP substitution exon 1 VAR_026405 Q8TAM1:p.Tyr613Cys SP substitution exon 1 VAR_026406 Q8TAM1:p.Tyr613His SP substitution exon 1 VAR_026407 Q8TAM1:p.Gly677Val SP substitution exon 1 VAR_026408 Q8TAM1:p.Thr689Pro SP substitution exon 1 VAR_026409 Q5VST9:p.Ala51Thr SP substitution exon 1 VAR_026410 Q5VST9:p.Arg4534His SP substitution exon 1 VAR_026411 P16157:p.Val991Leu SP substitution exon 1 VAR_026412 O00754:p.His200Leu SP substitution exon 1 VAR_026413 O00754:p.Ser453Tyr SP substitution exon 1 VAR_026414 O00754:p.Gly801Asp SP substitution exon 1 VAR_026415 Q9BRP4:p.Ala53Val SP substitution exon 1 VAR_026416 Q9BRP4:p.Ala209Gly SP substitution exon 1 VAR_026417 O94983:p.Ala267Pro SP substitution exon 1 VAR_026428 Q8NG31:p.Arg43Thr SP substitution exon 1 VAR_026429 Q8NG31:p.Thr70Ala SP substitution exon 1 VAR_026430 Q8NG31:p.Thr113Ala SP substitution exon 1 VAR_026431 Q8NG31:p.Ala486Ser SP substitution exon 1 VAR_026432 Q8NG31:p.Arg936Gly SP substitution exon 1 VAR_026433 Q8NG31:p.Lys1285Glu SP substitution exon 1 VAR_026434 Q8NG31:p.Thr1473Ala SP substitution exon 1 VAR_026435 Q9NSI6:p.Gln83Glu SP substitution exon 1 VAR_026436 Q9NSI6:p.Ser1511Pro SP substitution exon 1 VAR_026437 Q9NSI6:p.Leu1699Pro SP substitution exon 1 VAR_026446 Q9UPQ3:p.Ser82Gly SP substitution exon 1 VAR_026447 Q9UPQ3:p.Asp148Gly SP substitution exon 1 VAR_026448 Q9UPQ3:p.Val671Ile SP substitution exon 1 VAR_026449 Q9UPQ3:p.Arg798Gly SP substitution exon 1 VAR_026450 Q9UPQ3:p.Pro854Thr SP substitution exon 1 VAR_026451 P41225:p.Ala43Thr SP substitution exon 1 VAR_026453 P45378:p.Arg74His SP substitution exon 1 VAR_026463 P20849:p.Ser339Pro SP substitution exon 1 VAR_026464 P20849:p.Gln621Arg SP substitution exon 1 VAR_026465 Q14055:p.Thr246Met SP substitution exon 1 VAR_026466 Q14055:p.Leu335Val SP substitution exon 1 VAR_026467 Q14050:p.Arg103Gln SP substitution exon 1 VAR_026468 Q14050:p.Arg103Trp SP substitution exon 1 VAR_026469 Q14050:p.Pro296Leu SP substitution exon 1 VAR_026470 Q14050:p.Arg402Gln SP substitution exon 1 VAR_026471 Q14050:p.Ala435Glu SP substitution exon 1 VAR_026472 Q5JPB2:p.Gly845Arg SP substitution exon 1 VAR_026473 Q5JPB2:p.Ser1513Pro SP substitution exon 1 VAR_026474 Q8TEM1:p.Arg786Leu SP substitution exon 1 VAR_026475 Q8TEM1:p.Leu1752Ser SP substitution exon 1 VAR_026476 Q8TEM1:p.Val1787Met SP substitution exon 1 VAR_026477 Q13075:p.Val535Met SP substitution exon 1 VAR_026478 Q9NRJ7:p.Arg525Gln SP substitution exon 1 VAR_026479 Q9NRJ7:p.Ser532Gly SP substitution exon 1 VAR_026480 O43918:p.Arg15Cys SP substitution exon 1 VAR_026481 O43918:p.Ala21Val SP substitution exon 1 VAR_026483 O43918:p.Phe77Ser SP substitution exon 1 VAR_026484 O43918:p.Pro252Leu SP substitution exon 1 VAR_026485 O43918:p.Pro326Leu SP substitution exon 1 VAR_026486 O43918:p.Pro539Leu SP substitution exon 1 VAR_026487 O95479:p.Arg453Gln SP substitution exon 1 VAR_026488 O00421:p.Phe167Tyr SP substitution exon 1 VAR_026489 O00421:p.Val168Met SP substitution exon 1 VAR_026490 O00421:p.Ile243Val SP substitution exon 1 VAR_026491 Q9Y6K9:p.Glu57Lys SP substitution exon 1 VAR_026493 Q9Y6K9:p.Asp113Asn SP substitution exon 1 VAR_026494 Q9Y6K9:p.Arg123Trp SP substitution exon 1 VAR_026495 Q9Y6K9:p.Leu153Arg SP substitution exon 1 VAR_026496 Q9Y6K9:p.Cys417Tyr SP substitution exon 1 VAR_026497 Q6IA69:p.Val74Leu SP substitution exon 1 VAR_026518 P37088:p.Gly327Cys SP substitution exon 1 VAR_026519 P51168:p.Arg563Gln SP substitution exon 1 VAR_026520 P51168:p.Pro617Ser SP substitution exon 1 VAR_026521 P51168:p.Pro618Arg SP substitution exon 1 VAR_026522 P51168:p.Tyr620His SP substitution exon 1 VAR_026523 P38571:p.Gly23Arg SP substitution exon 1 VAR_026524 P38571:p.Val29Leu SP substitution exon 1 VAR_026525 P25024:p.Met268Leu SP substitution exon 1 VAR_026526 Q9UIA9:p.Glu398Asp SP substitution exon 1 VAR_026527 Q9UIA9:p.Cys835Tyr SP substitution exon 1 VAR_026528 O43592:p.Ala526Val SP substitution exon 1 VAR_026529 Q14683:p.Glu493Ala SP substitution exon 1 VAR_026531 Q5JVL4:p.Arg285Ile SP substitution exon 1 VAR_026532 Q9BTV7:p.Thr428Lys SP substitution exon 1 VAR_026533 O60313:p.Ser545Arg SP substitution exon 1 VAR_026534 Q9Y3Q4:p.Asp553Asn SP substitution exon 1 VAR_026535 Q9Y3Q4:p.Ser672Arg SP substitution exon 1 VAR_026536 P13647:p.Glu167Lys SP substitution exon 1 VAR_026537 P13647:p.Glu170Lys SP substitution exon 1 VAR_026538 P13647:p.Asn177Ser SP substitution exon 1 VAR_026539 P13647:p.Lys199Thr SP substitution exon 1 VAR_026540 P13647:p.Leu311Pro SP substitution exon 1 VAR_026541 P13647:p.Val324Asp SP substitution exon 1 VAR_026542 P13647:p.Asp328Glu SP substitution exon 1 VAR_026543 P13647:p.Asp328Gly SP substitution exon 1 VAR_026544 P13647:p.Glu418Lys SP substitution exon 1 VAR_026545 P43026:p.Arg438Leu SP substitution exon 1 VAR_026546 Q13410:p.Asp503Glu SP substitution exon 1 VAR_026547 Q9BQA5:p.Pro4Ser SP substitution exon 1 VAR_026548 Q9BQA5:p.Ser78Cys SP substitution exon 1 VAR_026549 Q5VVB8:p.Phe80Leu SP substitution exon 1 VAR_026550 Q5VVB8:p.Glu86Gly SP substitution exon 1 VAR_026551 Q5VVB8:p.Phe111Val SP substitution exon 1 VAR_026552 Q5T280:p.Thr130Arg SP substitution exon 1 VAR_026553 Q5T280:p.Ile369Thr SP substitution exon 1 VAR_026554 Q9UBY8:p.Leu16Met SP substitution exon 1 VAR_026555 Q9UBY8:p.Thr170Met SP substitution exon 1 VAR_026556 Q9UBY8:p.Arg204Cys SP substitution exon 1 VAR_026557 Q9UBY8:p.Trp263Cys SP substitution exon 1 VAR_026558 Q587I9:p.Arg38Gly SP substitution exon 1 VAR_026559 Q53EZ4:p.His57Gln SP substitution exon 1 VAR_026560 P15104:p.Arg324Cys SP substitution exon 1 VAR_026561 P15104:p.Arg341Cys SP substitution exon 1 VAR_026562 Q12887:p.Thr196Lys SP substitution exon 1 VAR_026563 Q12887:p.Asn204Lys SP substitution exon 1 VAR_026564 Q12887:p.Pro225Leu SP substitution exon 1 VAR_026567 P15529:p.Ser13Phe SP substitution exon 1 VAR_026568 P15529:p.Arg59Gln SP substitution exon 1 VAR_026569 P15529:p.Pro165Ser SP substitution exon 1 VAR_026570 P15529:p.Ser240Pro SP substitution exon 1 VAR_026572 Q9UN36:p.Gly48Val SP substitution exon 1 VAR_026573 Q92882:p.Leu159Phe SP substitution exon 1 VAR_026574 Q86VB7:p.Ile342Val SP substitution exon 1 VAR_026575 Q96GX9:p.Arg7Trp SP substitution exon 1 VAR_026576 Q96GX9:p.His23Arg SP substitution exon 1 VAR_026577 Q96GX9:p.Cys76Tyr SP substitution exon 1 VAR_026578 Q96GX9:p.Met181Val SP substitution exon 1 VAR_026579 Q5JY77:p.Ala315Gly SP substitution exon 1 VAR_026580 Q8TE67:p.Gly163Ser SP substitution exon 1 VAR_026581 Q8TE67:p.His293Tyr SP substitution exon 1 VAR_026582 Q8TE67:p.Pro356Ser SP substitution exon 1 VAR_026584 Q58F21:p.Gln62Lys SP substitution exon 1 VAR_026585 Q58F21:p.Lys238Asn SP substitution exon 1 VAR_026586 Q58F21:p.Asn410Lys SP substitution exon 1 VAR_026587 Q8N1G1:p.Ser886Gly SP substitution exon 1 VAR_026588 Q14191:p.Lys125Asn SP substitution exon 1 VAR_026589 Q14191:p.Lys135Glu SP substitution exon 1 VAR_026590 O94761:p.Ser523Thr SP substitution exon 1 VAR_026591 O94761:p.Arg1021Trp SP substitution exon 1 VAR_026592 P22033:p.Pro86Leu SP substitution exon 1 VAR_026593 P22033:p.Gly87Glu SP substitution exon 1 VAR_026594 P22033:p.Gly94Arg SP substitution exon 1 VAR_026595 P22033:p.Pro95Arg SP substitution exon 1 VAR_026596 P22033:p.Arg108Cys SP substitution exon 1 VAR_026597 P22033:p.Arg108Gly SP substitution exon 1 VAR_026598 P22033:p.Gly145Ser SP substitution exon 1 VAR_026599 P22033:p.Met186Val SP substitution exon 1 VAR_026600 P22033:p.Asn189Lys SP substitution exon 1 VAR_026601 P22033:p.Ala197Glu SP substitution exon 1 VAR_026602 P22033:p.Gly215Cys SP substitution exon 1 VAR_026603 P22033:p.Thr230Ile SP substitution exon 1 VAR_026604 P22033:p.His265Tyr SP substitution exon 1 VAR_026605 P22033:p.Leu281Ser SP substitution exon 1 VAR_026606 P22033:p.Gly291Glu SP substitution exon 1 VAR_026607 P22033:p.Leu305Ser SP substitution exon 1 VAR_026608 P22033:p.Ser306Phe SP substitution exon 1 VAR_026609 P22033:p.Tyr316Cys SP substitution exon 1 VAR_026610 P22033:p.Leu347Arg SP substitution exon 1 VAR_026611 P22033:p.His350Tyr SP substitution exon 1 VAR_026612 P22033:p.Arg369Cys SP substitution exon 1 VAR_026613 P22033:p.Thr370Pro SP substitution exon 1 VAR_026614 P22033:p.Gln383His SP substitution exon 1 VAR_026615 P22033:p.Gln383Pro SP substitution exon 1 VAR_026616 P22033:p.His386Asn SP substitution exon 1 VAR_026617 P22033:p.Asn388His SP substitution exon 1 VAR_026620 P22033:p.Gly426Arg SP substitution exon 1 VAR_026621 P22033:p.Gly427Asp SP substitution exon 1 VAR_026622 P22033:p.Leu518Pro SP substitution exon 1 VAR_026623 P22033:p.Cys560Tyr SP substitution exon 1 VAR_026624 P22033:p.Thr566Arg SP substitution exon 1 VAR_026625 P22033:p.Phe573Ser SP substitution exon 1 VAR_026626 P22033:p.Pro615Arg SP substitution exon 1 VAR_026627 P22033:p.Gly637Arg SP substitution exon 1 VAR_026628 P19224:p.Ser70Tyr SP substitution exon 1 VAR_026630 O96017:p.Thr59Lys SP substitution exon 1 VAR_026631 Q96Q83:p.Asp228Glu SP substitution exon 1 VAR_026632 Q96Q83:p.Arg164Cys SP substitution exon 1 VAR_026633 P02792:p.Ala96Thr SP substitution exon 1 VAR_026637 Q8IXI1:p.Arg245Gln SP substitution exon 1 VAR_026639 Q8WW27:p.Ser75Phe SP substitution exon 1 VAR_026640 Q8WW27:p.Phe271Ser SP substitution exon 1 VAR_026641 Q8WW27:p.Pro275Ser SP substitution exon 1 VAR_026642 Q8WW27:p.Lys331Glu SP substitution exon 1 VAR_026643 Q8WW27:p.Val345Met SP substitution exon 1 VAR_026644 Q6UWR7:p.Ser419Gly SP substitution exon 1 VAR_026645 Q8IY26:p.Ser140Trp SP substitution exon 1 VAR_026646 Q8NBV4:p.Thr174Met SP substitution exon 1 VAR_026647 Q8NBV4:p.Leu267Val SP substitution exon 1 VAR_026648 P81172:p.Gly71Asp SP substitution exon 1 VAR_026650 O15273:p.Arg70Trp SP substitution exon 1 VAR_026651 O15273:p.Pro90Leu SP substitution exon 1 VAR_026652 Q99705:p.Thr25Met SP substitution exon 1 VAR_026653 Q99705:p.Asp28Val SP substitution exon 1 VAR_026654 Q99705:p.Gly34Arg SP substitution exon 1 VAR_026655 Q99705:p.Arg210His SP substitution exon 1 VAR_026656 Q99705:p.Tyr250His SP substitution exon 1 VAR_026657 Q99705:p.Thr305Met SP substitution exon 1 VAR_026661 Q969V1:p.Arg63Lys SP substitution exon 1 VAR_026662 Q969V1:p.Arg152Gln SP substitution exon 1 VAR_026663 Q15911:p.Ser72Ala SP substitution exon 1 VAR_026664 Q15911:p.Thr428Pro SP substitution exon 1 VAR_026665 Q15911:p.Val777Ala SP substitution exon 1 VAR_026667 O94812:p.Asp582Ala SP substitution exon 1 VAR_026668 Q9NYH9:p.Gln69Arg SP substitution exon 1 VAR_026670 Q6P1N0:p.Thr339Pro SP substitution exon 1 VAR_026673 Q9P0K7:p.Ala44Thr SP substitution exon 1 VAR_026674 O75363:p.Gln24Lys SP substitution exon 1 VAR_026675 O75363:p.Val163Ala SP substitution exon 1 VAR_026677 Q8TC36:p.Glu39Asp SP substitution exon 1 VAR_026678 Q8TC36:p.Ala174Thr SP substitution exon 1 VAR_026679 Q9NRE2:p.Arg113Ser SP substitution exon 1 VAR_026680 Q9NRE2:p.Ala681Thr SP substitution exon 1 VAR_026681 P54577:p.Gly41Arg SP substitution exon 1 VAR_026683 P54577:p.Gln170His SP substitution exon 1 VAR_026684 P54577:p.Glu196Lys SP substitution exon 1 VAR_026696 P56539:p.Ser61Arg SP substitution exon 1 VAR_026697 Q9Y6A1:p.Ser537Arg SP substitution exon 1 VAR_026698 Q86YN6:p.Ala203Pro SP substitution exon 1 VAR_026699 Q86YN6:p.Arg265Gln SP substitution exon 1 VAR_026700 Q86YN6:p.Val279Ile SP substitution exon 1 VAR_026701 Q86YN6:p.Arg292Ser SP substitution exon 1 VAR_026702 O43423:p.Ala23Val SP substitution exon 1 VAR_026703 O43423:p.Tyr140His SP substitution exon 1 VAR_026705 P09848:p.Val219Ile SP substitution exon 1 VAR_026706 P09848:p.Gln268His SP substitution exon 1 VAR_026707 P09848:p.Ile362Val SP substitution exon 1 VAR_026708 P09848:p.Gly1363Ser SP substitution exon 1 VAR_026709 P09848:p.Asn1639Ser SP substitution exon 1 VAR_026710 Q8WX94:p.Val319Ile SP substitution exon 1 VAR_026711 Q8WX94:p.Arg693Pro SP substitution exon 1 VAR_026712 Q8WX94:p.Arg693Trp SP substitution exon 1 VAR_026713 Q8WX94:p.Asn913Ser SP substitution exon 1 VAR_026715 Q6P9F0:p.Thr394Lys SP substitution exon 1 VAR_026716 O95573:p.Phe551Ser SP substitution exon 1 VAR_026718 Q5T4W7:p.Gln19Arg SP substitution exon 1 VAR_026719 Q9UHX3:p.Thr605Ile SP substitution exon 1 VAR_026720 Q9UHX3:p.Leu614Phe SP substitution exon 1 VAR_026721 Q9UHX3:p.Ser665Phe SP substitution exon 1 VAR_026722 Q16557:p.Leu23Ser SP substitution exon 1 VAR_026723 Q16557:p.Asn198Thr SP substitution exon 1 VAR_026725 Q6ZTQ3:p.Ser163Pro SP substitution exon 1 VAR_026726 Q8WUA8:p.Asp344Glu SP substitution exon 1 VAR_026727 Q86TC9:p.Ser691Asn SP substitution exon 1 VAR_026728 Q86TC9:p.Ser707Asn SP substitution exon 1 VAR_026729 Q86TC9:p.Ser803Arg SP substitution exon 1 VAR_026730 Q9Y210:p.Pro112Gln SP substitution exon 1 VAR_026731 Q9Y210:p.Asn143Ser SP substitution exon 1 VAR_026732 Q9Y210:p.Ser270Thr SP substitution exon 1 VAR_026733 Q9Y210:p.Arg895Cys SP substitution exon 1 VAR_026734 Q9Y210:p.Glu897Lys SP substitution exon 1 VAR_026735 P13637:p.Ile274Thr SP substitution exon 1 VAR_026736 P13637:p.Glu277Lys SP substitution exon 1 VAR_026737 P13637:p.Thr613Met SP substitution exon 1 VAR_026738 P13637:p.Ile758Ser SP substitution exon 1 VAR_026739 P13637:p.Phe780Leu SP substitution exon 1 VAR_026740 P13637:p.Asp801Tyr SP substitution exon 1 VAR_026741 Q13936:p.Gly402Ser SP substitution exon 1 VAR_026742 Q13936:p.Gly406Arg SP substitution exon 1 VAR_026743 O95292:p.Pro56Ser SP substitution exon 1 VAR_026744 Q9Y4J8:p.Pro121Leu SP substitution exon 1 VAR_026745 P57082:p.Gly248Val SP substitution exon 1 VAR_026746 P57082:p.Gln531Arg SP substitution exon 1 VAR_026748 P10809:p.Val98Ile SP substitution exon 1 VAR_026750 O43556:p.Leu196Arg SP substitution exon 1 VAR_026751 P31645:p.Ile425Val SP substitution exon 1 VAR_026752 Q9UBR1:p.Ala85Glu SP substitution exon 1 VAR_026753 P11686:p.Ile73Thr SP substitution exon 1 VAR_026754 P11686:p.Ala116Asp SP substitution exon 1 VAR_026758 Q9UBP0:p.Leu195Val SP substitution exon 1 VAR_026759 Q9UBP0:p.Ile406Val SP substitution exon 1 VAR_026760 Q9UBP0:p.Asp493Gly SP substitution exon 1 VAR_026761 Q9UBP0:p.Arg499His SP substitution exon 1 VAR_026762 Q9UBP0:p.Arg503Trp SP substitution exon 1 VAR_026763 Q9UBP0:p.Trp607Cys SP substitution exon 1 VAR_026764 Q16836:p.Leu86Pro SP substitution exon 1 VAR_026765 O60603:p.Thr411Ile SP substitution exon 1 VAR_026766 O60603:p.Arg579His SP substitution exon 1 VAR_026767 O15020:p.Leu253Pro SP substitution exon 1 VAR_026770 O15020:p.Ser825Gly SP substitution exon 1 VAR_026771 O15020:p.Val1034Ala SP substitution exon 1 VAR_026772 P57082:p.Ala35Val SP substitution exon 1 VAR_026773 Q96LZ2:p.Arg65Gln SP substitution exon 1 VAR_026774 P17813:p.Leu8Pro SP substitution exon 1 VAR_026775 P17813:p.Val49Phe SP substitution exon 1 VAR_026776 P17813:p.Leu107Arg SP substitution exon 1 VAR_026780 P17813:p.Ile263Thr SP substitution exon 1 VAR_026781 P17813:p.Cys412Ser SP substitution exon 1 VAR_026785 P37023:p.Gly48Arg SP substitution exon 1 VAR_026786 P37023:p.Arg67Trp SP substitution exon 1 VAR_026787 P37023:p.Asp179Ala SP substitution exon 1 VAR_026788 P37023:p.Gly211Asp SP substitution exon 1 VAR_026789 P37023:p.Glu215Lys SP substitution exon 1 VAR_026790 P37023:p.Gly223Arg SP substitution exon 1 VAR_026791 P37023:p.Lys229Arg SP substitution exon 1 VAR_026794 P37023:p.Leu285Phe SP substitution exon 1 VAR_026795 P37023:p.Ala306Pro SP substitution exon 1 VAR_026796 P37023:p.His314Tyr SP substitution exon 1 VAR_026797 P37023:p.Leu337Pro SP substitution exon 1 VAR_026798 P37023:p.Cys344Tyr SP substitution exon 1 VAR_026799 P37023:p.Ala347Pro SP substitution exon 1 VAR_026800 P37023:p.Arg374Gln SP substitution exon 1 VAR_026801 P37023:p.Met376Val SP substitution exon 1 VAR_026802 P37023:p.Pro378Leu SP substitution exon 1 VAR_026803 P37023:p.Glu379Lys SP substitution exon 1 VAR_026804 P37023:p.Asp397Gly SP substitution exon 1 VAR_026805 P37023:p.Ile398Asn SP substitution exon 1 VAR_026806 P37023:p.Trp399Ser SP substitution exon 1 VAR_026807 P37023:p.Glu407Asp SP substitution exon 1 VAR_026808 P37023:p.Arg411Pro SP substitution exon 1 VAR_026809 P37023:p.Arg411Trp SP substitution exon 1 VAR_026810 P37023:p.Phe425Leu SP substitution exon 1 VAR_026811 P37023:p.Phe425Val SP substitution exon 1 VAR_026813 P37023:p.Arg479Leu SP substitution exon 1 VAR_026814 P37023:p.Ala482Val SP substitution exon 1 VAR_026815 P37023:p.Arg484Trp SP substitution exon 1 VAR_026816 P37023:p.Lys487Thr SP substitution exon 1 VAR_026819 O75951:p.Phe139Ser SP substitution exon 1 VAR_026820 P01023:p.Asn639Asp SP substitution exon 1 VAR_026821 P01023:p.Leu815Gln SP substitution exon 1 VAR_026822 Q15814:p.Val65Ala SP substitution exon 1 VAR_026823 Q15814:p.Gly157Asp SP substitution exon 1 VAR_026824 Q15814:p.Ala279Thr SP substitution exon 1 VAR_026825 Q8N6S4:p.Thr413Ser SP substitution exon 1 VAR_026826 P25103:p.Tyr192His SP substitution exon 1 VAR_026827 P17643:p.Arg326His SP substitution exon 1 VAR_026828 P17643:p.Arg356Gln SP substitution exon 1 VAR_026829 Q14157:p.Gln482His SP substitution exon 1 VAR_026830 Q9UJZ1:p.Leu129Pro SP substitution exon 1 VAR_026831 Q8N5U0:p.Pro242Ser SP substitution exon 1 VAR_026833 Q9UPS8:p.Gln20Arg SP substitution exon 1 VAR_026834 Q9UPS8:p.Val1304Ile SP substitution exon 1 VAR_026835 Q9UPS8:p.Phe1513Leu SP substitution exon 1 VAR_026836 Q5U5R9:p.Pro19Ala SP substitution exon 1 VAR_026837 Q3MJ13:p.Leu819Phe SP substitution exon 1 VAR_026838 Q3MJ13:p.Ser833Ala SP substitution exon 1 VAR_026839 Q9NX94:p.Ser302Pro SP substitution exon 1 VAR_026840 Q9NX94:p.Ala320Ser SP substitution exon 1 VAR_026841 Q8WVS4:p.Glu91Gly SP substitution exon 1 VAR_026842 Q8WVS4:p.Gln273Arg SP substitution exon 1 VAR_026843 Q6NVV3:p.Ile324Val SP substitution exon 1 VAR_026844 Q8IX03:p.Arg250Cys SP substitution exon 1 VAR_026845 Q8NEK5:p.Ala58Ser SP substitution exon 1 VAR_026846 Q8NEK5:p.Ala73Thr SP substitution exon 1 VAR_026847 Q96IQ9:p.Gln65Arg SP substitution exon 1 VAR_026848 Q96IQ9:p.Pro77Ser SP substitution exon 1 VAR_026849 Q9NUM4:p.Thr185Ser SP substitution exon 1 VAR_026850 Q96MR6:p.Ala183Ser SP substitution exon 1 VAR_026851 Q96MR6:p.Asn241Asp SP substitution exon 1 VAR_026852 Q96MR6:p.Cys345Ser SP substitution exon 1 VAR_026853 Q8N136:p.Thr27Ile SP substitution exon 1 VAR_026854 Q8N136:p.Thr121Ser SP substitution exon 1 VAR_026855 Q96EC8:p.Phe202Leu SP substitution exon 1 VAR_026856 Q9ULE3:p.Pro156His SP substitution exon 1 VAR_026857 Q9ULE3:p.Glu729Lys SP substitution exon 1 VAR_026858 Q9ULE3:p.Ile777Thr SP substitution exon 1 VAR_026859 Q68D51:p.Asp2Glu SP substitution exon 1 VAR_026860 Q68D51:p.Asp170Gly SP substitution exon 1 VAR_026861 Q53HC5:p.Val542Met SP substitution exon 1 VAR_026862 Q9H967:p.Ser153Ala SP substitution exon 1 VAR_026863 Q9H967:p.Ser614Gly SP substitution exon 1 VAR_026864 Q8IZQ1:p.Ile3032Val SP substitution exon 1 VAR_026865 Q9BUR4:p.Pro11Ser SP substitution exon 1 VAR_026866 Q9BUR4:p.Arg68Gly SP substitution exon 1 VAR_026867 Q9BUR4:p.Ala522Gly SP substitution exon 1 VAR_026868 Q9BVX2:p.Ser175Phe SP substitution exon 1 VAR_026869 Q8N6D5:p.Gly112Glu SP substitution exon 1 VAR_026870 Q8N283:p.Pro428Ser SP substitution exon 1 VAR_026871 Q8TBC5:p.Gly379Glu SP substitution exon 1 VAR_026872 Q9NZP6:p.Val212Ala SP substitution exon 1 VAR_026873 Q9NZP6:p.Gly253Arg SP substitution exon 1 VAR_026874 Q9NZP6:p.Asn282Ser SP substitution exon 1 VAR_026875 Q9NZP6:p.Gln406Glu SP substitution exon 1 VAR_026877 Q8N2H3:p.Pro428Ser SP substitution exon 1 VAR_026878 Q8N2H3:p.Met461Thr SP substitution exon 1 VAR_026879 Q8N2H3:p.Ala533Thr SP substitution exon 1 VAR_026882 Q5W0U4:p.Gln293His SP substitution exon 1 VAR_026883 Q5W0U4:p.Thr374Ile SP substitution exon 1 VAR_026888 Q8TAT2:p.Glu206Val SP substitution exon 1 VAR_026890 Q5VUM1:p.Gln46Arg SP substitution exon 1 VAR_026891 Q6ZRI6:p.Ala119Pro SP substitution exon 1 VAR_026892 Q6ZRI6:p.Gly491Asp SP substitution exon 1 VAR_026893 Q6ZRI6:p.Ser536Ala SP substitution exon 1 VAR_026894 Q6ZRI6:p.Gly945Asp SP substitution exon 1 VAR_026895 Q8TBH0:p.Arg181His SP substitution exon 1 VAR_026896 Q8TBH0:p.Arg192His SP substitution exon 1 VAR_026897 Q8TBH0:p.Ala244Thr SP substitution exon 1 VAR_026898 Q8TBH0:p.Leu396Pro SP substitution exon 1 VAR_026899 Q8NCT1:p.Thr79Ala SP substitution exon 1 VAR_026900 Q8NCT1:p.Pro347Ser SP substitution exon 1 VAR_026901 Q8NCT1:p.Ser358Pro SP substitution exon 1 VAR_026902 Q5T7N3:p.His822Arg SP substitution exon 1 VAR_026903 Q5T7N3:p.Val840Ala SP substitution exon 1 VAR_026904 Q5T7N3:p.Val935Leu SP substitution exon 1 VAR_026905 Q53RE8:p.Ala113Thr SP substitution exon 1 VAR_026906 Q9GZM5:p.Ala5Val SP substitution exon 1 VAR_026907 Q8TBE7:p.Lys400Arg SP substitution exon 1 VAR_026912 Q9NRW4:p.Arg119His SP substitution exon 1 VAR_026913 Q6ZUX7:p.Ile102Val SP substitution exon 1 VAR_026915 P22304:p.Leu41Pro SP substitution exon 1 VAR_026916 P22304:p.Ser71Asn SP substitution exon 1 VAR_026917 P22304:p.Leu73Phe SP substitution exon 1 VAR_026918 P22304:p.Ala82Val SP substitution exon 1 VAR_026919 P22304:p.Ala85Ser SP substitution exon 1 VAR_026920 P22304:p.Arg88Gly SP substitution exon 1 VAR_026921 P22304:p.Val89Phe SP substitution exon 1 VAR_026922 P22304:p.Arg95Gly SP substitution exon 1 VAR_026923 P22304:p.Arg95Thr SP substitution exon 1 VAR_026924 P22304:p.Tyr108Ser SP substitution exon 1 VAR_026926 P22304:p.Ser117Tyr SP substitution exon 1 VAR_026928 P22304:p.Gln121His SP substitution exon 1 VAR_026929 P22304:p.Gln121Arg SP substitution exon 1 VAR_026930 P22304:p.His138Asp SP substitution exon 1 VAR_026931 P22304:p.Gly140Val SP substitution exon 1 VAR_026932 P22304:p.Asp148His SP substitution exon 1 VAR_026933 P22304:p.Asn181Ile SP substitution exon 1 VAR_026934 P22304:p.Leu182Pro SP substitution exon 1 VAR_026935 P22304:p.Ala205Pro SP substitution exon 1 VAR_026936 P22304:p.Lys227Met SP substitution exon 1 VAR_026937 P22304:p.Pro228Thr SP substitution exon 1 VAR_026938 P22304:p.His229Arg SP substitution exon 1 VAR_026939 P22304:p.Pro231Leu SP substitution exon 1 VAR_026940 P22304:p.Leu259Pro SP substitution exon 1 VAR_026941 P22304:p.Asn265Ile SP substitution exon 1 VAR_026942 P22304:p.Ser299Ile SP substitution exon 1 VAR_026943 P22304:p.Asp308Glu SP substitution exon 1 VAR_026944 P22304:p.Asp308Asn SP substitution exon 1 VAR_026945 P22304:p.Thr309Ala SP substitution exon 1 VAR_026946 P22304:p.Arg313Cys SP substitution exon 1 VAR_026947 P22304:p.Leu314Pro SP substitution exon 1 VAR_026948 P22304:p.Asp334Asn SP substitution exon 1 VAR_026949 P22304:p.His335Arg SP substitution exon 1 VAR_026950 P22304:p.Gly336Glu SP substitution exon 1 VAR_026951 P22304:p.Gly336Arg SP substitution exon 1 VAR_026952 P22304:p.Leu339Arg SP substitution exon 1 VAR_026963 P15391:p.Leu174Val SP substitution exon 1 VAR_026964 Q86Y22:p.Thr287Ala SP substitution exon 1 VAR_026965 Q8NI08:p.Ser399Ala SP substitution exon 1 VAR_026966 Q8NI08:p.Asp942Glu SP substitution exon 1 VAR_026967 Q7Z5K2:p.Val124Ile SP substitution exon 1 VAR_026968 Q53FT3:p.Pro47Ala SP substitution exon 1 VAR_026969 Q99453:p.Arg100Leu SP substitution exon 1 VAR_026970 Q99453:p.Arg141Gly SP substitution exon 1 VAR_026971 P57075:p.Ser18Gly SP substitution exon 1 VAR_026972 P57075:p.Leu28Phe SP substitution exon 1 VAR_026973 P57075:p.Gln286Arg SP substitution exon 1 VAR_026974 Q9UBP5:p.Thr96Ala SP substitution exon 1 VAR_026975 Q9UBP5:p.Asp98Ala SP substitution exon 1 VAR_026976 Q9UBP5:p.Leu100Ser SP substitution exon 1 VAR_026977 Q9UBP5:p.Val140Met SP substitution exon 1 VAR_026978 Q9UHK0:p.Ser36Arg SP substitution exon 1 VAR_026979 Q9BRT8:p.Ala8Val SP substitution exon 1 VAR_026982 Q9H0A6:p.Arg288Gln SP substitution exon 1 VAR_026983 Q9H0A6:p.His291Gln SP substitution exon 1 VAR_026984 Q9H0A6:p.Arg307Cys SP substitution exon 1 VAR_026985 Q7Z478:p.Pro630His SP substitution exon 1 VAR_026986 Q9UBX5:p.Asp364Tyr SP substitution exon 1 VAR_026987 O43526:p.Arg207Trp SP substitution exon 1 VAR_026988 O43526:p.Met208Val SP substitution exon 1 VAR_026989 O43526:p.His228Gln SP substitution exon 1 VAR_026990 O43526:p.Leu243Phe SP substitution exon 1 VAR_026991 O43526:p.Ser247Trp SP substitution exon 1 VAR_026992 O43526:p.Arg333Gln SP substitution exon 1 VAR_026993 O43526:p.Lys554Asn SP substitution exon 1 VAR_026994 O43525:p.Asp305Gly SP substitution exon 1 VAR_026995 O43525:p.Asn468Ser SP substitution exon 1 VAR_026996 Q9H6Y7:p.Asn121Lys SP substitution exon 1 VAR_026997 Q8IYW5:p.Pro401Gln SP substitution exon 1 VAR_026998 Q8N4F7:p.Met159Val SP substitution exon 1 VAR_026999 Q8N4F7:p.Leu307Phe SP substitution exon 1 VAR_027000 Q8N4F7:p.Ile315Met SP substitution exon 1 VAR_027001 Q8N4F7:p.Ile322Asn SP substitution exon 1 VAR_027002 Q5T4F4:p.Val82Ile SP substitution exon 1 VAR_027003 Q5T4F4:p.Gly138Val SP substitution exon 1 VAR_027005 Q8WWK9:p.Ile323Val SP substitution exon 1 VAR_027006 Q9BQS8:p.Arg250Gln SP substitution exon 1 VAR_027007 Q9BQS8:p.Arg282His SP substitution exon 1 VAR_027008 Q9BQS8:p.Gly321Ala SP substitution exon 1 VAR_027009 Q9BQS8:p.Thr381Met SP substitution exon 1 VAR_027010 Q9BQS8:p.Ala679Val SP substitution exon 1 VAR_027011 Q9BQS8:p.Asn1001Asp SP substitution exon 1 VAR_027013 Q7Z4V0:p.Pro173Ser SP substitution exon 1 VAR_027014 Q8TC21:p.Thr136Lys SP substitution exon 1 VAR_027017 O60315:p.Arg953Gly SP substitution exon 1 VAR_027019 O95967:p.Glu57Lys SP substitution exon 1 VAR_027020 O95967:p.Ile259Val SP substitution exon 1 VAR_027021 Q7Z4S6:p.Met947Thr SP substitution exon 1 VAR_027022 Q5H8A4:p.Arg458His SP substitution exon 1 VAR_027023 Q5H8A4:p.Cys610Arg SP substitution exon 1 VAR_027024 Q5H8A4:p.Val699Ile SP substitution exon 1 VAR_027026 Q9H3S5:p.Phe365Leu SP substitution exon 1 VAR_027027 Q92521:p.Ile68Leu SP substitution exon 1 VAR_027028 Q92521:p.Met162Thr SP substitution exon 1 VAR_027029 Q92521:p.Trp299Leu SP substitution exon 1 VAR_027032 Q86VD9:p.Arg340Gln SP substitution exon 1 VAR_027033 Q86VD9:p.Val417Ala SP substitution exon 1 VAR_027034 Q86VD9:p.Met487Ile SP substitution exon 1 VAR_027035 Q8TBF5:p.Pro155Leu SP substitution exon 1 VAR_027036 Q8TBF5:p.Glu197Asp SP substitution exon 1 VAR_027039 Q6ZMI3:p.Ser141Asn SP substitution exon 1 VAR_027040 Q13043:p.Val312Met SP substitution exon 1 VAR_027041 Q8NBL1:p.Lys75Arg SP substitution exon 1 VAR_027042 Q8NBL1:p.Pro229Thr SP substitution exon 1 VAR_027043 Q96IW2:p.Gly138Ser SP substitution exon 1 VAR_027044 Q96IW2:p.Asn270Ser SP substitution exon 1 VAR_027045 P31994:p.Tyr205Phe SP substitution exon 1 VAR_027046 P0C870:p.Ala28Gly SP substitution exon 1 VAR_027047 P0C869:p.Arg191Cys SP substitution exon 1 VAR_027048 P0C869:p.Met239Ile SP substitution exon 1 VAR_027049 Q86XP0:p.Arg573Trp SP substitution exon 1 VAR_027050 Q86XP0:p.Ala649Gly SP substitution exon 1 VAR_027051 Q86XP0:p.Arg747Gly SP substitution exon 1 VAR_027052 Q3MJ16:p.Asn388Ser SP substitution exon 1 VAR_027058 Q7L5N7:p.Met163Ile SP substitution exon 1 VAR_027059 Q6Q4G3:p.Val640Phe SP substitution exon 1 VAR_027060 Q6Q4G3:p.Leu689Phe SP substitution exon 1 VAR_027061 Q6Q4G3:p.Val936Ile SP substitution exon 1 VAR_027062 Q32MQ0:p.Met235Val SP substitution exon 1 VAR_027063 Q53HL2:p.Lys12Asn SP substitution exon 1 VAR_027064 Q9NR71:p.Thr51Ala SP substitution exon 1 VAR_027065 Q9NR71:p.Ala346Ser SP substitution exon 1 VAR_027066 Q8N715:p.Val195Ala SP substitution exon 1 VAR_027067 Q8N715:p.Gly329Asp SP substitution exon 1 VAR_027068 Q8N715:p.Arg331Trp SP substitution exon 1 VAR_027069 Q8N715:p.Arg380Leu SP substitution exon 1 VAR_027070 Q32M84:p.Arg318Gln SP substitution exon 1 VAR_027071 Q32M84:p.Gly331Asp SP substitution exon 1 VAR_027072 Q32M84:p.His439Pro SP substitution exon 1 VAR_027073 Q32M84:p.Gln472Arg SP substitution exon 1 VAR_027077 Q9Y5T4:p.Arg35Gly SP substitution exon 1 VAR_027078 Q9NVH1:p.Val267Met SP substitution exon 1 VAR_027079 Q9NVH1:p.Thr290Ala SP substitution exon 1 VAR_027080 Q6UW63:p.Ile114Val SP substitution exon 1 VAR_027081 Q8N0S6:p.Ile117Phe SP substitution exon 1 VAR_027082 Q6ZU52:p.Ser61Arg SP substitution exon 1 VAR_027083 Q8NBF6:p.Cys257Ser SP substitution exon 1 VAR_027084 Q8TF65:p.Ser61Phe SP substitution exon 1 VAR_027085 Q8TF65:p.Leu206Pro SP substitution exon 1 VAR_027086 Q7Z4H8:p.Arg319Leu SP substitution exon 1 VAR_027087 O95568:p.Glu10Asp SP substitution exon 1 VAR_027088 O95568:p.Ala325Val SP substitution exon 1 VAR_027089 O95568:p.Lys360Met SP substitution exon 1 VAR_027090 Q96SI1:p.Gly64Ser SP substitution exon 1 VAR_027091 Q8N1D5:p.Phe191Leu SP substitution exon 1 VAR_027092 Q96G46:p.Arg185Gly SP substitution exon 1 VAR_027093 Q96G46:p.Asp609Asn SP substitution exon 1 VAR_027095 Q96D59:p.Thr82Ala SP substitution exon 1 VAR_027096 Q96D59:p.Arg114Gln SP substitution exon 1 VAR_027099 Q8N878:p.Arg274Cys SP substitution exon 1 VAR_027101 P78524:p.Lys316Asn SP substitution exon 1 VAR_027102 P78524:p.Asp399Glu SP substitution exon 1 VAR_027103 P78524:p.Ile620Thr SP substitution exon 1 VAR_027104 P78524:p.Ser774Gly SP substitution exon 1 VAR_027105 Q5T089:p.His330Tyr SP substitution exon 1 VAR_027106 Q502X0:p.Glu48Lys SP substitution exon 1 VAR_027109 Q76LX8:p.Arg7Trp SP substitution exon 1 VAR_027110 Q76LX8:p.Val88Met SP substitution exon 1 VAR_027111 Q76LX8:p.His96Asp SP substitution exon 1 VAR_027112 Q76LX8:p.Arg102Cys SP substitution exon 1 VAR_027113 Q76LX8:p.Arg193Trp SP substitution exon 1 VAR_027114 Q76LX8:p.Thr196Ile SP substitution exon 1 VAR_027115 Q76LX8:p.His234Gln SP substitution exon 1 VAR_027116 Q76LX8:p.Ala250Val SP substitution exon 1 VAR_027117 Q76LX8:p.Arg268Pro SP substitution exon 1 VAR_027118 Q76LX8:p.Trp390Cys SP substitution exon 1 VAR_027119 Q76LX8:p.Arg398His SP substitution exon 1 VAR_027120 Q76LX8:p.Gln448Glu SP substitution exon 1 VAR_027121 Q76LX8:p.Pro475Ser SP substitution exon 1 VAR_027122 Q76LX8:p.Cys508Tyr SP substitution exon 1 VAR_027123 Q76LX8:p.Arg528Gly SP substitution exon 1 VAR_027124 Q76LX8:p.Pro618Ala SP substitution exon 1 VAR_027125 Q76LX8:p.Arg625His SP substitution exon 1 VAR_027126 Q76LX8:p.Ile673Phe SP substitution exon 1 VAR_027127 Q76LX8:p.Arg692Cys SP substitution exon 1 VAR_027128 Q76LX8:p.Ala732Val SP substitution exon 1 VAR_027129 Q76LX8:p.Ala900Val SP substitution exon 1 VAR_027130 Q76LX8:p.Ser903Leu SP substitution exon 1 VAR_027131 Q76LX8:p.Cys908Tyr SP substitution exon 1 VAR_027132 Q76LX8:p.Cys951Gly SP substitution exon 1 VAR_027133 Q76LX8:p.Cys1024Gly SP substitution exon 1 VAR_027134 Q76LX8:p.Ala1033Thr SP substitution exon 1 VAR_027135 Q76LX8:p.Arg1095Trp SP substitution exon 1 VAR_027140 Q9H2U1:p.Glu151Lys SP substitution exon 1 VAR_027141 Q9H2U1:p.Ser416Cys SP substitution exon 1 VAR_027142 Q9H2U1:p.Ile583Asn SP substitution exon 1 VAR_027143 Q8TAA9:p.Ala116Thr SP substitution exon 1 VAR_027144 Q71F23:p.Gly16Ser SP substitution exon 1 VAR_027145 Q71F23:p.Ile157Thr SP substitution exon 1 VAR_027146 Q71F23:p.Ile214Met SP substitution exon 1 VAR_027147 Q96KN2:p.Gly6Arg SP substitution exon 1 VAR_027149 Q96KN2:p.Ile113Val SP substitution exon 1 VAR_027150 Q5QJU3:p.Ala134Val SP substitution exon 1 VAR_027151 Q49MG5:p.Arg177Trp SP substitution exon 1 VAR_027152 Q8TDQ1:p.Gln218Arg SP substitution exon 1 VAR_027153 Q9H9Y4:p.Gln227Arg SP substitution exon 1 VAR_027154 Q9H9Y4:p.Arg264Gly SP substitution exon 1 VAR_027155 Q7Z3E1:p.Arg406Ser SP substitution exon 1 VAR_027156 Q9Y597:p.Phe9Val SP substitution exon 1 VAR_027157 Q8N5Z5:p.Arg51Gly SP substitution exon 1 VAR_027158 Q9H9F9:p.Arg298Leu SP substitution exon 1 VAR_027159 Q9H9F9:p.Ile483Val SP substitution exon 1 VAR_027160 Q9H9F9:p.Pro580Leu SP substitution exon 1 VAR_027161 Q8WY91:p.Ser121Gly SP substitution exon 1 VAR_027162 Q76LX8:p.Gln456His SP substitution exon 1 VAR_027163 Q76LX8:p.Pro457Leu SP substitution exon 1 VAR_027164 Q76LX8:p.Glu740Lys SP substitution exon 1 VAR_027165 Q76LX8:p.Gly982Arg SP substitution exon 1 VAR_027167 O00533:p.Leu17Phe SP substitution exon 1 VAR_027168 O00533:p.Thr287Ala SP substitution exon 1 VAR_027169 O00533:p.Ile1034Val SP substitution exon 1 VAR_027170 Q9HB58:p.Trp112Arg SP substitution exon 1 VAR_027171 Q9HB58:p.Ala128Val SP substitution exon 1 VAR_027172 Q9HB58:p.Ala206Val SP substitution exon 1 VAR_027173 Q9HB58:p.Glu207Lys SP substitution exon 1 VAR_027174 Q9HB58:p.Glu212Gly SP substitution exon 1 VAR_027175 Q9HB58:p.Met249Val SP substitution exon 1 VAR_027176 Q9HB58:p.Glu267Gly SP substitution exon 1 VAR_027177 Q9HB58:p.Gly299Arg SP substitution exon 1 VAR_027178 Q9HB58:p.Thr367Met SP substitution exon 1 VAR_027179 Q9HB58:p.Leu425Ser SP substitution exon 1 VAR_027180 Q9HB58:p.Met523Thr SP substitution exon 1 VAR_027181 Q9HB58:p.Met579Ile SP substitution exon 1 VAR_027182 Q9BYG3:p.Pro144Gln SP substitution exon 1 VAR_027198 Q8IV50:p.Ile107Val SP substitution exon 1 VAR_027199 Q8IV50:p.Ser164Phe SP substitution exon 1 VAR_027200 Q5XG99:p.Ala157Val SP substitution exon 1 VAR_027201 Q5XG99:p.Ala161Val SP substitution exon 1 VAR_027202 Q5XG99:p.Ala180Gly SP substitution exon 1 VAR_027203 Q5BVD1:p.Ile111Val SP substitution exon 1 VAR_027204 Q5BVD1:p.Gly144Ser SP substitution exon 1 VAR_027205 Q9UBP0:p.Pro45Gln SP substitution exon 1 VAR_027206 Q9UBP0:p.Gln347Lys SP substitution exon 1 VAR_027207 Q9UBP0:p.Pro361Leu SP substitution exon 1 VAR_027208 Q9UBP0:p.Gly370Arg SP substitution exon 1 VAR_027209 Q9UBP0:p.Phe381Cys SP substitution exon 1 VAR_027210 Q9UBP0:p.Asn386Lys SP substitution exon 1 VAR_027211 Q9UBP0:p.Lys388Arg SP substitution exon 1 VAR_027212 Q9UBP0:p.Ser399Leu SP substitution exon 1 VAR_027213 Q9UBP0:p.Leu426Val SP substitution exon 1 VAR_027214 Q9UBP0:p.Pro435Leu SP substitution exon 1 VAR_027215 Q9UBP0:p.Ser436Phe SP substitution exon 1 VAR_027216 Q9UBP0:p.Asp441Gly SP substitution exon 1 VAR_027217 Q9UBP0:p.Arg459Gly SP substitution exon 1 VAR_027218 Q9UBP0:p.Arg460Cys SP substitution exon 1 VAR_027219 Q9UBP0:p.Arg460Leu SP substitution exon 1 VAR_027220 Q9UBP0:p.Asp470Val SP substitution exon 1 VAR_027221 Q9UBP0:p.Ala485Val SP substitution exon 1 VAR_027222 Q9UBP0:p.Pro489Leu SP substitution exon 1 VAR_027223 Q9UBP0:p.Glu512Asp SP substitution exon 1 VAR_027224 Q9UBP0:p.Asp555Asn SP substitution exon 1 VAR_027225 Q9UBP0:p.Ala556Val SP substitution exon 1 VAR_027226 Q9UBP0:p.Gly559Asp SP substitution exon 1 VAR_027227 Q9UBP0:p.Arg562Gly SP substitution exon 1 VAR_027228 Q9UBP0:p.Arg562Gln SP substitution exon 1 VAR_027229 P07202:p.Gly533Cys SP substitution exon 1 VAR_027231 P07202:p.Gly590Ser SP substitution exon 1 VAR_027232 P07202:p.Val618Met SP substitution exon 1 VAR_027233 P07202:p.Met706Val SP substitution exon 1 VAR_027234 P07202:p.Leu793Pro SP substitution exon 1 VAR_027235 P07202:p.Val839Ile SP substitution exon 1 VAR_027236 P07202:p.Arg846Trp SP substitution exon 1 VAR_027237 P07202:p.Val847Ala SP substitution exon 1 VAR_027238 O43511:p.Pro123Ser SP substitution exon 1 VAR_027239 O43511:p.Met147Val SP substitution exon 1 VAR_027240 O43511:p.Thr508Asn SP substitution exon 1 VAR_027241 O43511:p.Gln514Arg SP substitution exon 1 VAR_027242 O43511:p.Tyr530Ser SP substitution exon 1 VAR_027243 O43511:p.Val609Gly SP substitution exon 1 VAR_027244 O43511:p.Ser666Phe SP substitution exon 1 VAR_027245 O43511:p.Gly740Ser SP substitution exon 1 VAR_027246 O43511:p.Arg776Cys SP substitution exon 1 VAR_027251 O75056:p.Val208Ile SP substitution exon 1 VAR_027252 O75056:p.Asp303Asn SP substitution exon 1 VAR_027253 O75056:p.Thr329Ile SP substitution exon 1 VAR_027254 P52747:p.Glu561Gln SP substitution exon 1 VAR_027255 Q9H336:p.Ala286Ser SP substitution exon 1 VAR_027256 Q9H0B8:p.Ser105Gly SP substitution exon 1 VAR_027257 Q9H0B8:p.Thr322Ser SP substitution exon 1 VAR_027258 Q9HBV2:p.Leu237Ser SP substitution exon 1 VAR_027259 Q9UQ35:p.Pro804Thr SP substitution exon 1 VAR_027260 Q9UQ35:p.Ser883Cys SP substitution exon 1 VAR_027261 Q9BYG7:p.Arg39Ser SP substitution exon 1 VAR_027262 Q9BYG7:p.Thr134Ala SP substitution exon 1 VAR_027263 O43820:p.His113Tyr SP substitution exon 1 VAR_027264 Q8IZW8:p.Leu179Pro SP substitution exon 1 VAR_027265 Q8IZW8:p.Ser498Asn SP substitution exon 1 VAR_027266 Q5JQC9:p.Ala673Gly SP substitution exon 1 VAR_027267 Q6ZMQ8:p.Thr118Met SP substitution exon 1 VAR_027268 O75648:p.Ala10Ser SP substitution exon 1 VAR_027269 Q5T4F4:p.Gly191Val SP substitution exon 1 VAR_027270 Q96JM3:p.Leu568Val SP substitution exon 1 VAR_027271 Q96JM3:p.Pro604Arg SP substitution exon 1 VAR_027272 Q96AT1:p.Ile139Met SP substitution exon 1 VAR_027273 Q7L622:p.Arg232His SP substitution exon 1 VAR_027274 Q9Y4D2:p.Pro889Leu SP substitution exon 1 VAR_027276 Q96BW9:p.Asn116Ser SP substitution exon 1 VAR_027277 Q53GQ0:p.Ser280Leu SP substitution exon 1 VAR_027278 Q9NVI1:p.Gln686Lys SP substitution exon 1 VAR_027279 Q9NVI1:p.Cys742Ser SP substitution exon 1 VAR_027280 Q5TBB1:p.Leu60Arg SP substitution exon 1 VAR_027281 Q5TBB1:p.His86Arg SP substitution exon 1 VAR_027282 Q5TBB1:p.Lys162Thr SP substitution exon 1 VAR_027283 Q5TBB1:p.Thr163Ile SP substitution exon 1 VAR_027284 Q5TBB1:p.Ala177Thr SP substitution exon 1 VAR_027285 Q5TBB1:p.Val185Gly SP substitution exon 1 VAR_027286 Q5TBB1:p.Tyr219His SP substitution exon 1 VAR_027287 Q8TDP1:p.Arg69Trp SP substitution exon 1 VAR_027288 Q8TDP1:p.Lys143Ile SP substitution exon 1 VAR_027289 Q8N5V2:p.Arg78Gly SP substitution exon 1 VAR_027290 Q8N5V2:p.Met111Thr SP substitution exon 1 VAR_027291 Q32MZ4:p.Gln275Arg SP substitution exon 1 VAR_027292 Q32MZ4:p.Asn418Ser SP substitution exon 1 VAR_027293 Q32MZ4:p.Glu609Lys SP substitution exon 1 VAR_027294 Q32MZ4:p.Pro645Leu SP substitution exon 1 VAR_027295 Q32MZ4:p.Arg779Gly SP substitution exon 1 VAR_027296 Q32MZ4:p.His783Asp SP substitution exon 1 VAR_027297 Q9BQI5:p.Glu112Gln SP substitution exon 1 VAR_027298 Q9BQI5:p.Lys131Arg SP substitution exon 1 VAR_027299 Q9BQI5:p.Pro161Gln SP substitution exon 1 VAR_027300 Q9BQI5:p.Lys575Glu SP substitution exon 1 VAR_027301 Q13402:p.His133Asp SP substitution exon 1 VAR_027302 Q13402:p.Gly163Arg SP substitution exon 1 VAR_027303 Q13402:p.Lys164Arg SP substitution exon 1 VAR_027304 Q13402:p.Ala198Thr SP substitution exon 1 VAR_027305 Q13402:p.Thr204Ala SP substitution exon 1 VAR_027306 Q13402:p.Asn458Ile SP substitution exon 1 VAR_027307 Q13402:p.Gly722Arg SP substitution exon 1 VAR_027308 Q13402:p.Arg853Cys SP substitution exon 1 VAR_027309 Q13402:p.Glu1327Lys SP substitution exon 1 VAR_027311 Q13402:p.Thr1566Met SP substitution exon 1 VAR_027312 Q13402:p.Cys1666Gly SP substitution exon 1 VAR_027313 Q13402:p.Gly1740Ser SP substitution exon 1 VAR_027314 Q13402:p.Arg1873Trp SP substitution exon 1 VAR_027316 Q13402:p.Asp2142Asn SP substitution exon 1 VAR_027317 Q9H251:p.Asp124Gly SP substitution exon 1 VAR_027318 Q9H251:p.Glu247Lys SP substitution exon 1 VAR_027319 Q9H251:p.Asn452Ser SP substitution exon 1 VAR_027320 Q9H251:p.Leu480Gln SP substitution exon 1 VAR_027321 Q9H251:p.Ala484Pro SP substitution exon 1 VAR_027322 Q9H251:p.Arg582Gln SP substitution exon 1 VAR_027323 Q9H251:p.Arg1060Trp SP substitution exon 1 VAR_027324 Q9H251:p.Gly1186Asp SP substitution exon 1 VAR_027325 Q9H251:p.Pro1206Arg SP substitution exon 1 VAR_027326 Q9H251:p.Asp1341Asn SP substitution exon 1 VAR_027327 Q9H251:p.Arg1437Gln SP substitution exon 1 VAR_027328 Q9H251:p.Ala1586Pro SP substitution exon 1 VAR_027329 Q9H251:p.Glu1595Lys SP substitution exon 1 VAR_027330 Q9H251:p.Val1620Met SP substitution exon 1 VAR_027331 Q9H251:p.Asp1846Asn SP substitution exon 1 VAR_027332 Q9H251:p.Thr1887Ile SP substitution exon 1 VAR_027333 Q9H251:p.Phe1888Ser SP substitution exon 1 VAR_027334 Q9H251:p.Gly2017Ser SP substitution exon 1 VAR_027335 Q9H251:p.Arg2066Gln SP substitution exon 1 VAR_027336 Q9H251:p.Asp2148Asn SP substitution exon 1 VAR_027337 Q9H251:p.Val2283Ile SP substitution exon 1 VAR_027338 Q9H251:p.Asp2376Asn SP substitution exon 1 VAR_027339 Q9H251:p.Arg2465Trp SP substitution exon 1 VAR_027340 Q9H251:p.Ser2517Gly SP substitution exon 1 VAR_027341 Q9H251:p.Arg2608His SP substitution exon 1 VAR_027342 Q9H251:p.Gly2744Ser SP substitution exon 1 VAR_027343 Q9H251:p.Arg2833Gly SP substitution exon 1 VAR_027344 Q9H251:p.Val2933Glu SP substitution exon 1 VAR_027345 Q9H251:p.Asp2954Asn SP substitution exon 1 VAR_027346 Q9H251:p.Asn2962Ser SP substitution exon 1 VAR_027347 Q9H251:p.Arg3175His SP substitution exon 1 VAR_027348 Q495T6:p.Met518Thr SP substitution exon 1 VAR_027349 O43464:p.Ala141Ser SP substitution exon 1 VAR_027350 O43464:p.Gly399Ser SP substitution exon 1 VAR_027351 Q9H902:p.Ala20Glu SP substitution exon 1 VAR_027352 Q14667:p.His986Gln SP substitution exon 1 VAR_027353 Q14667:p.Val1516Gly SP substitution exon 1 VAR_027354 Q693B1:p.Gly22Ser SP substitution exon 1 VAR_027355 Q6PI47:p.Ala333Val SP substitution exon 1 VAR_027356 Q6PI47:p.Gly336Cys SP substitution exon 1 VAR_027357 Q6PI47:p.Cys390Ser SP substitution exon 1 VAR_027358 Q6PI47:p.Ala413Val SP substitution exon 1 VAR_027359 Q8N766:p.Leu295Ser SP substitution exon 1 VAR_027360 Q8N766:p.Ser345Thr SP substitution exon 1 VAR_027361 Q8N766:p.Ser347Asn SP substitution exon 1 VAR_027362 O43719:p.Gly478Ala SP substitution exon 1 VAR_027363 Q9P2H0:p.Ala178Thr SP substitution exon 1 VAR_027364 Q9P2H0:p.Gly238Cys SP substitution exon 1 VAR_027365 Q9P2H0:p.Ser275Tyr SP substitution exon 1 VAR_027366 Q9P2H0:p.Ile281Thr SP substitution exon 1 VAR_027367 Q9P2H0:p.Ala302Thr SP substitution exon 1 VAR_027368 Q9P2H0:p.Pro710Ser SP substitution exon 1 VAR_027371 Q9GZT9:p.Pro317Arg SP substitution exon 1 VAR_027374 P05155:p.Asp39Glu SP substitution exon 1 VAR_027375 P05155:p.Val56Ala SP substitution exon 1 VAR_027376 P05155:p.Gly345Arg SP substitution exon 1 VAR_027377 O75792:p.Gly37Ser SP substitution exon 1 VAR_027378 O75792:p.Ala258Gly SP substitution exon 1 VAR_027379 P05155:p.Cys130Tyr SP substitution exon 1 VAR_027380 P05155:p.Thr394Pro SP substitution exon 1 VAR_027381 P05155:p.Asp408Val SP substitution exon 1 VAR_027385 Q96IV0:p.Val581Ile SP substitution exon 1 VAR_027386 Q96IV0:p.Gln591Arg SP substitution exon 1 VAR_027387 Q0ZLH3:p.Thr54Ile SP substitution exon 1 VAR_027388 Q0ZLH3:p.Arg183Trp SP substitution exon 1 VAR_027389 Q96PD6:p.Ser163Pro SP substitution exon 1 VAR_027390 Q3SYC2:p.Met9Val SP substitution exon 1 VAR_027392 Q9HBK9:p.Arg173Trp SP substitution exon 1 VAR_027393 Q9HBK9:p.Met287Thr SP substitution exon 1 VAR_027394 Q9HBK9:p.Thr306Ile SP substitution exon 1 VAR_027395 Q15848:p.Gly90Ser SP substitution exon 1 VAR_027396 Q15848:p.Tyr111His SP substitution exon 1 VAR_027397 Q9GZU2:p.Ala235Thr SP substitution exon 1 VAR_027398 Q9GZU2:p.Val839Leu SP substitution exon 1 VAR_027399 Q9GZU2:p.Asp983Gly SP substitution exon 1 VAR_027401 Q9UM07:p.Asp89Asn SP substitution exon 1 VAR_027402 Q9UM07:p.Pro102Thr SP substitution exon 1 VAR_027403 Q9UM07:p.Arg131Thr SP substitution exon 1 VAR_027404 Q9UM07:p.Met164Thr SP substitution exon 1 VAR_027405 Q8TF76:p.Gly204Asp SP substitution exon 1 VAR_027406 Q8TF76:p.Ile328Thr SP substitution exon 1 VAR_027407 Q8TF76:p.Val378Ala SP substitution exon 1 VAR_027408 Q8TF76:p.Asn422Asp SP substitution exon 1 VAR_027409 Q9NVE7:p.Ala547Val SP substitution exon 1 VAR_027410 Q68CL5:p.Arg47Cys SP substitution exon 1 VAR_027411 Q9BXF3:p.Arg293His SP substitution exon 1 VAR_027412 Q9BXF3:p.Pro674Leu SP substitution exon 1 VAR_027413 Q8TAV3:p.Ala181Thr SP substitution exon 1 VAR_027414 Q9H2X9:p.Pro407Ala SP substitution exon 1 VAR_027416 Q9UGT4:p.Arg59Gln SP substitution exon 1 VAR_027417 Q9UGT4:p.Ser110Thr SP substitution exon 1 VAR_027418 Q9UGT4:p.Asn466Ser SP substitution exon 1 VAR_027419 Q96H22:p.Glu84Asp SP substitution exon 1 VAR_027420 Q9BU64:p.Gln34Arg SP substitution exon 1 VAR_027421 Q96BT3:p.Pro115Leu SP substitution exon 1 VAR_027422 Q70CQ4:p.Asp445Tyr SP substitution exon 1 VAR_027423 Q70CQ4:p.Gln532His SP substitution exon 1 VAR_027424 Q70CQ4:p.Ile538Thr SP substitution exon 1 VAR_027425 Q70CQ4:p.Ala552Thr SP substitution exon 1 VAR_027426 Q70CQ4:p.Arg931Leu SP substitution exon 1 VAR_027427 Q86UV5:p.Ser125Cys SP substitution exon 1 VAR_027428 Q86UV5:p.Glu135Lys SP substitution exon 1 VAR_027429 O00391:p.Asn114Ser SP substitution exon 1 VAR_027430 O00391:p.Gly200Ala SP substitution exon 1 VAR_027431 O00391:p.Arg256Met SP substitution exon 1 VAR_027432 O00391:p.Ala294Ser SP substitution exon 1 VAR_027433 O00391:p.His444Arg SP substitution exon 1 VAR_027434 O00391:p.Asn591His SP substitution exon 1 VAR_027435 Q6ZRP7:p.Lys126Glu SP substitution exon 1 VAR_027436 O14777:p.Ser66Ala SP substitution exon 1 VAR_027437 O14777:p.Glu348Asp SP substitution exon 1 VAR_027438 O14777:p.Ala605Pro SP substitution exon 1 VAR_027439 P08F94:p.Phe372Leu SP substitution exon 1 VAR_027440 P08F94:p.Asp3052Tyr SP substitution exon 1 VAR_027441 P08F94:p.Val3837Ile SP substitution exon 1 VAR_027442 P08F94:p.Ile3905Asn SP substitution exon 1 VAR_027443 P08F94:p.Arg3913His SP substitution exon 1 VAR_027444 Q86UK0:p.Glu550Gly SP substitution exon 1 VAR_027445 Q86UK0:p.Ser777Thr SP substitution exon 1 VAR_027446 Q86UK0:p.Gly1251Asp SP substitution exon 1 VAR_027450 P01008:p.Tyr17Ser SP substitution exon 1 VAR_027451 P01008:p.Cys32Arg SP substitution exon 1 VAR_027452 P01008:p.Tyr95Cys SP substitution exon 1 VAR_027453 P01008:p.Leu98Pro SP substitution exon 1 VAR_027454 P01008:p.Met121Lys SP substitution exon 1 VAR_027455 P01008:p.Cys127Arg SP substitution exon 1 VAR_027456 P01008:p.Lys146Glu SP substitution exon 1 VAR_027457 P01008:p.Cys160Tyr SP substitution exon 1 VAR_027458 P01008:p.Leu178His SP substitution exon 1 VAR_027459 P01008:p.Phe179Leu SP substitution exon 1 VAR_027460 P01008:p.Tyr198His SP substitution exon 1 VAR_027461 P01008:p.Ser214Phe SP substitution exon 1 VAR_027463 P01008:p.Ser223Pro SP substitution exon 1 VAR_027464 P01008:p.Thr243Ile SP substitution exon 1 VAR_027465 P01008:p.Ile251Thr SP substitution exon 1 VAR_027466 P01008:p.Trp257Arg SP substitution exon 1 VAR_027467 P01008:p.Phe261Leu SP substitution exon 1 VAR_027468 P01008:p.Met283Val SP substitution exon 1 VAR_027469 P01008:p.Ser323Pro SP substitution exon 1 VAR_027470 P01008:p.Ser397Pro SP substitution exon 1 VAR_027471 P01008:p.Asp398His SP substitution exon 1 VAR_027472 P01008:p.Ser412Arg SP substitution exon 1 VAR_027473 P01008:p.Leu441Pro SP substitution exon 1 VAR_027474 Q9NS62:p.Val125Gly SP substitution exon 1 VAR_027475 Q9NS62:p.Arg224Gly SP substitution exon 1 VAR_027477 P25106:p.Leu219Trp SP substitution exon 1 VAR_027478 P82987:p.His146Arg SP substitution exon 1 VAR_027479 P82987:p.Leu290Val SP substitution exon 1 VAR_027480 P82987:p.Val661Leu SP substitution exon 1 VAR_027481 P82987:p.Arg855His SP substitution exon 1 VAR_027482 P82987:p.Leu869Phe SP substitution exon 1 VAR_027483 P82987:p.Thr1370Ala SP substitution exon 1 VAR_027484 P82987:p.Met1558Thr SP substitution exon 1 VAR_027487 Q9UM44:p.Ile30Thr SP substitution exon 1 VAR_027488 Q9UM44:p.Asn344Lys SP substitution exon 1 VAR_027489 Q9UM44:p.Ser364Arg SP substitution exon 1 VAR_027490 Q9BZD4:p.Ser229Leu SP substitution exon 1 VAR_027491 Q9BZD4:p.Ser239Arg SP substitution exon 1 VAR_027496 Q8NC24:p.Ser128Pro SP substitution exon 1 VAR_027497 Q8NC24:p.Leu133Ile SP substitution exon 1 VAR_027498 Q8NC24:p.Gly196Arg SP substitution exon 1 VAR_027499 Q8NC24:p.Gln283Glu SP substitution exon 1 VAR_027501 P19532:p.Ser96Cys SP substitution exon 1 VAR_027502 P19532:p.Thr313Ala SP substitution exon 1 VAR_027503 Q9BZE9:p.Leu252Gln SP substitution exon 1 VAR_027505 Q03721:p.Cys520Tyr SP substitution exon 1 VAR_027506 Q8IWX7:p.Val60Ile SP substitution exon 1 VAR_027507 Q8IWX7:p.Ile852Asn SP substitution exon 1 VAR_027508 O00358:p.Arg102Cys SP substitution exon 1 VAR_027509 Q3T906:p.Lys4Gln SP substitution exon 1 VAR_027510 Q3T906:p.Ile348Leu SP substitution exon 1 VAR_027511 Q3T906:p.Lys1236Met SP substitution exon 1 VAR_027512 P32004:p.Ala415Pro SP substitution exon 1 VAR_027513 P32004:p.Ser674Cys SP substitution exon 1 VAR_027514 P32004:p.Asp770Asn SP substitution exon 1 VAR_027515 Q8IYL2:p.Arg352Gly SP substitution exon 1 VAR_027516 Q9H0D6:p.Arg743Met SP substitution exon 1 VAR_027528 Q96EN8:p.Ala57Pro SP substitution exon 1 VAR_027529 Q96EN8:p.Ser120Asn SP substitution exon 1 VAR_027530 Q96EN8:p.Thr170Ile SP substitution exon 1 VAR_027531 Q96EN8:p.Ser184Gly SP substitution exon 1 VAR_027532 Q96EN8:p.His225Arg SP substitution exon 1 VAR_027533 Q96EN8:p.Thr294Ile SP substitution exon 1 VAR_027534 Q96EN8:p.Val358Met SP substitution exon 1 VAR_027535 Q96EN8:p.Asp495Asn SP substitution exon 1 VAR_027536 Q96EN8:p.Val541Leu SP substitution exon 1 VAR_027537 Q96EN8:p.His703Asn SP substitution exon 1 VAR_027538 Q96EN8:p.Val867Ala SP substitution exon 1 VAR_027540 Q70JA7:p.Gly615Glu SP substitution exon 1 VAR_027541 O75355:p.Glu440Asp SP substitution exon 1 VAR_027542 O75355:p.Ala496Val SP substitution exon 1 VAR_027543 O75355:p.Leu505Phe SP substitution exon 1 VAR_027544 Q18PE1:p.Gly180Ala SP substitution exon 1 VAR_027545 Q18PE1:p.Asp197Asn SP substitution exon 1 VAR_027546 Q18PE1:p.Arg261His SP substitution exon 1 VAR_027547 Q18PE1:p.Gln296Arg SP substitution exon 1 VAR_027548 Q18PE1:p.Pro415Ser SP substitution exon 1 VAR_027549 Q18PE1:p.Gly427Asp SP substitution exon 1 VAR_027550 Q18PE1:p.Arg451Trp SP substitution exon 1 VAR_027551 Q18PE1:p.Gly461Asp SP substitution exon 1 VAR_027552 P10696:p.Gln34Glu SP substitution exon 1 VAR_027553 P10696:p.Leu273Met SP substitution exon 1 VAR_027554 P10696:p.Leu316Arg SP substitution exon 1 VAR_027555 P10696:p.Gly527Glu SP substitution exon 1 VAR_027556 Q86VF7:p.Val208Ala SP substitution exon 1 VAR_027557 Q86VF7:p.Tyr249Cys SP substitution exon 1 VAR_027558 Q86VF7:p.Ala344Thr SP substitution exon 1 VAR_027559 Q86VF7:p.Gln360Arg SP substitution exon 1 VAR_027560 Q86VF7:p.Leu1531Pro SP substitution exon 1 VAR_027561 Q5XPI4:p.Pro51Arg SP substitution exon 1 VAR_027562 Q9BSL1:p.Glu374Asp SP substitution exon 1 VAR_027563 Q15361:p.Glu35Lys SP substitution exon 1 VAR_027564 Q15361:p.Ala290Ser SP substitution exon 1 VAR_027565 Q15361:p.Val303Ala SP substitution exon 1 VAR_027566 Q15361:p.Gly360Val SP substitution exon 1 VAR_027567 Q15361:p.Arg401Gln SP substitution exon 1 VAR_027568 Q8NDZ2:p.Ser221Phe SP substitution exon 1 VAR_027569 Q8NDZ2:p.Lys463Arg SP substitution exon 1 VAR_027570 Q8NDZ2:p.His772Arg SP substitution exon 1 VAR_027571 Q8WWZ7:p.Gln93Lys SP substitution exon 1 VAR_027572 Q8WWZ7:p.Gln484Arg SP substitution exon 1 VAR_027573 Q8WWZ7:p.Met753Val SP substitution exon 1 VAR_027574 Q8WWZ7:p.Ala832Ser SP substitution exon 1 VAR_027576 Q8N139:p.Val282Ile SP substitution exon 1 VAR_027577 Q8N139:p.Asn610Tyr SP substitution exon 1 VAR_027578 Q8N139:p.Met698Ile SP substitution exon 1 VAR_027579 Q8N139:p.Met875Ile SP substitution exon 1 VAR_027580 Q8N139:p.Asn1322Ser SP substitution exon 1 VAR_027581 Q8IZY2:p.Glu188Gly SP substitution exon 1 VAR_027582 Q8IZY2:p.Thr319Ala SP substitution exon 1 VAR_027583 Q8IZY2:p.His395Arg SP substitution exon 1 VAR_027584 Q8IZY2:p.Arg463His SP substitution exon 1 VAR_027585 Q8IZY2:p.Asn718Thr SP substitution exon 1 VAR_027586 Q8IZY2:p.Arg1349Gln SP substitution exon 1 VAR_027587 Q8IZY2:p.Gly1527Ala SP substitution exon 1 VAR_027588 Q8IZY2:p.Gln1686Arg SP substitution exon 1 VAR_027589 Q8IZY2:p.Ala2045Ser SP substitution exon 1 VAR_027590 O94911:p.Thr256Ala SP substitution exon 1 VAR_027591 O94911:p.Gly331Ser SP substitution exon 1 VAR_027592 O94911:p.Tyr489Phe SP substitution exon 1 VAR_027593 O94911:p.Cys680Gly SP substitution exon 1 VAR_027594 Q8IUA7:p.Arg353His SP substitution exon 1 VAR_027595 Q8IUA7:p.Asn785Ser SP substitution exon 1 VAR_027596 Q8IUA7:p.Lys1306Thr SP substitution exon 1 VAR_027597 Q8IUA7:p.Gly1356Ser SP substitution exon 1 VAR_027598 Q6GTX8:p.Glu63Asp SP substitution exon 1 VAR_027599 Q5T3J3:p.Ser599Pro SP substitution exon 1 VAR_027600 Q5T3J3:p.Ile641Met SP substitution exon 1 VAR_027601 Q9NVV4:p.Arg162Cys SP substitution exon 1 VAR_027602 Q9NVV4:p.Tyr221His SP substitution exon 1 VAR_027603 Q9NVV4:p.Cys419Arg SP substitution exon 1 VAR_027604 Q9NVV4:p.Ser546Asn SP substitution exon 1 VAR_027607 Q7Z6A9:p.Arg157Ser SP substitution exon 1 VAR_027608 Q7Z6A9:p.Pro267Leu SP substitution exon 1 VAR_027609 Q5JTZ9:p.Ile339Val SP substitution exon 1 VAR_027610 Q5JTZ9:p.Ala484Asp SP substitution exon 1 VAR_027612 Q6PI48:p.Leu10Val SP substitution exon 1 VAR_027613 Q5HY92:p.Ser96Leu SP substitution exon 1 VAR_027614 Q5HY92:p.Arg448Cys SP substitution exon 1 VAR_027615 Q5HY92:p.Lys565Arg SP substitution exon 1 VAR_027616 Q14246:p.Ala57Thr SP substitution exon 1 VAR_027617 Q14246:p.Ser140Arg SP substitution exon 1 VAR_027618 Q14246:p.Asp174Asn SP substitution exon 1 VAR_027619 Q14246:p.Asn254Ser SP substitution exon 1 VAR_027620 Q14246:p.Ala298Val SP substitution exon 1 VAR_027621 Q14246:p.Thr389Met SP substitution exon 1 VAR_027622 Q14246:p.Ile424Val SP substitution exon 1 VAR_027623 Q14246:p.Lys496Gln SP substitution exon 1 VAR_027624 Q14246:p.Ile539Val SP substitution exon 1 VAR_027625 Q14246:p.Val589Ile SP substitution exon 1 VAR_027626 Q14246:p.Phe691Cys SP substitution exon 1 VAR_027627 Q14246:p.Val724Leu SP substitution exon 1 VAR_027628 Q5VYY1:p.Glu73Gly SP substitution exon 1 VAR_027629 Q5VYY1:p.Tyr79His SP substitution exon 1 VAR_027630 Q5VYY1:p.Gln148Pro SP substitution exon 1 VAR_027631 Q5VYY1:p.Arg177Ile SP substitution exon 1 VAR_027632 Q8TDN2:p.Leu126Gln SP substitution exon 1 VAR_027633 Q8TDN2:p.Trp188Cys SP substitution exon 1 VAR_027634 Q8TDN2:p.Ser256Trp SP substitution exon 1 VAR_027635 Q8TDN2:p.Ala259Val SP substitution exon 1 VAR_027637 Q8TDN2:p.Gly459Asp SP substitution exon 1 VAR_027638 Q8TDN2:p.Leu533Val SP substitution exon 1 VAR_027639 Q15822:p.Thr22Ile SP substitution exon 1 VAR_027640 Q15822:p.Thr125Ala SP substitution exon 1 VAR_027641 Q15822:p.Ile279Asn SP substitution exon 1 VAR_027642 Q9H9B1:p.Ala388Thr SP substitution exon 1 VAR_027643 Q9H0F7:p.Thr31Met SP substitution exon 1 VAR_027644 Q9H0F7:p.Thr31Arg SP substitution exon 1 VAR_027645 Q9H0F7:p.Gly169Ala SP substitution exon 1 VAR_027646 Q9H0F7:p.Leu170Trp SP substitution exon 1 VAR_027647 P13671:p.Lys397Glu SP substitution exon 1 VAR_027648 P13671:p.Ser470Phe SP substitution exon 1 VAR_027649 P07358:p.Glu108Lys SP substitution exon 1 VAR_027650 P07358:p.Pro261Leu SP substitution exon 1 VAR_027651 P02748:p.Ile203Val SP substitution exon 1 VAR_027652 Q5T5J6:p.Ile148Val SP substitution exon 1 VAR_027653 Q5T5J6:p.His536Arg SP substitution exon 1 VAR_027654 Q5T5J6:p.Leu638Phe SP substitution exon 1 VAR_027655 Q5T5J6:p.Asn821Asp SP substitution exon 1 VAR_027656 Q5T0J7:p.Glu55Gly SP substitution exon 1 VAR_027657 Q5T0J7:p.Ala146Gly SP substitution exon 1 VAR_027658 Q5T0J7:p.Leu171Arg SP substitution exon 1 VAR_027659 Q8NCL8:p.Cys22Gly SP substitution exon 1 VAR_027660 Q9H0C3:p.Arg90His SP substitution exon 1 VAR_027661 Q5SY80:p.Thr66Lys SP substitution exon 1 VAR_027663 Q4V9L6:p.Ile72Thr SP substitution exon 1 VAR_027664 Q7Z3I7:p.Lys317Thr SP substitution exon 1 VAR_027665 Q7Z3I7:p.Gly380Glu SP substitution exon 1 VAR_027666 Q7Z3I7:p.Ser448Cys SP substitution exon 1 VAR_027667 Q7Z3I7:p.Val500Ile SP substitution exon 1 VAR_027668 Q9BS31:p.Gly352Asp SP substitution exon 1 VAR_027669 Q9BS31:p.Ala469Thr SP substitution exon 1 VAR_027670 Q8N3J2:p.Leu163Phe SP substitution exon 1 VAR_027671 Q8N3J2:p.Gln310Lys SP substitution exon 1 VAR_027672 Q8N3J2:p.Val468Leu SP substitution exon 1 VAR_027673 Q53R12:p.Ala27Val SP substitution exon 1 VAR_027674 O15393:p.Val160Met SP substitution exon 1 VAR_027675 O15479:p.Glu61Lys SP substitution exon 1 VAR_027676 O15479:p.Gly318Arg SP substitution exon 1 VAR_027677 O43557:p.Ser32Leu SP substitution exon 1 VAR_027678 O43557:p.Leu120Val SP substitution exon 1 VAR_027679 O43557:p.Lys214Glu SP substitution exon 1 VAR_027680 O43374:p.Met352Val SP substitution exon 1 VAR_027681 O43374:p.Arg432Pro SP substitution exon 1 VAR_027682 O43374:p.Tyr731Cys SP substitution exon 1 VAR_027683 O15503:p.Ala27Thr SP substitution exon 1 VAR_027684 Q6ZS81:p.Ser214Pro SP substitution exon 1 VAR_027685 Q6ZS81:p.Ser944Phe SP substitution exon 1 VAR_027686 Q9BUB7:p.Ala34Pro SP substitution exon 1 VAR_027687 Q9BUB7:p.Thr250Ala SP substitution exon 1 VAR_027688 Q9BUB7:p.Asp259Glu SP substitution exon 1 VAR_027689 Q96K58:p.Val25Leu SP substitution exon 1 VAR_027690 Q96K58:p.Gly304Glu SP substitution exon 1 VAR_027691 Q96K58:p.Ala447Val SP substitution exon 1 VAR_027692 Q6ZWB6:p.Pro329Leu SP substitution exon 1 VAR_027693 Q8NHS9:p.Arg112Thr SP substitution exon 1 VAR_027694 Q8NHS9:p.Val148Met SP substitution exon 1 VAR_027695 Q8NHS9:p.Gln155Arg SP substitution exon 1 VAR_027696 Q8NHS9:p.Ile160Thr SP substitution exon 1 VAR_027697 Q7Z5L4:p.Ala50Val SP substitution exon 1 VAR_027698 Q5JST6:p.Asn31Ser SP substitution exon 1 VAR_027699 Q5JST6:p.Glu208Lys SP substitution exon 1 VAR_027700 Q5JST6:p.Ser430Tyr SP substitution exon 1 VAR_027701 Q5JST6:p.Glu507Gln SP substitution exon 1 VAR_027702 Q6PEY1:p.Leu44Phe SP substitution exon 1 VAR_027703 Q6UXU6:p.Ser90Thr SP substitution exon 1 VAR_027704 Q6UXU6:p.Ser90Asn SP substitution exon 1 VAR_027705 Q6PGP7:p.Leu437Val SP substitution exon 1 VAR_027706 Q6PGP7:p.Arg1296Ser SP substitution exon 1 VAR_027707 Q2M3A8:p.Glu6Ala SP substitution exon 1 VAR_027708 Q2M3A8:p.Ser135Phe SP substitution exon 1 VAR_027709 Q2M3A8:p.Gly142Val SP substitution exon 1 VAR_027710 O95561:p.Met97Val SP substitution exon 1 VAR_027711 O95561:p.Ser137Asn SP substitution exon 1 VAR_027712 Q8NDX1:p.Gly269Ala SP substitution exon 1 VAR_027713 Q96F05:p.Gly97Val SP substitution exon 1 VAR_027714 Q96F05:p.Ala150Thr SP substitution exon 1 VAR_027716 Q5HYK9:p.Lys260Arg SP substitution exon 1 VAR_027717 Q5HYK9:p.Thr540Ala SP substitution exon 1 VAR_027718 P02533:p.Arg211Pro SP substitution exon 1 VAR_027719 P02533:p.Met272Thr SP substitution exon 1 VAR_027721 P02533:p.Arg417Pro SP substitution exon 1 VAR_027722 P13647:p.Glu168Lys SP substitution exon 1 VAR_027723 P13647:p.Arg169Pro SP substitution exon 1 VAR_027724 P13647:p.Glu190Lys SP substitution exon 1 VAR_027725 P13647:p.Arg331His SP substitution exon 1 VAR_027726 P13647:p.Thr469Pro SP substitution exon 1 VAR_027727 Q6MZW2:p.Arg158His SP substitution exon 1 VAR_027728 Q6MZW2:p.Thr757Met SP substitution exon 1 VAR_027729 Q8NDB2:p.Arg61His SP substitution exon 1 VAR_027730 Q8NDB2:p.Ala383Thr SP substitution exon 1 VAR_027731 Q8NDB2:p.Cys650Arg SP substitution exon 1 VAR_027732 Q8IXW0:p.Ala44Thr SP substitution exon 1 VAR_027734 Q8NFU7:p.Asp162Gly SP substitution exon 1 VAR_027735 Q8NFU7:p.Ser193Thr SP substitution exon 1 VAR_027736 Q8NFU7:p.Ala256Val SP substitution exon 1 VAR_027737 Q8NFU7:p.Asn1018Ser SP substitution exon 1 VAR_027738 Q8NFU7:p.Ile1123Met SP substitution exon 1 VAR_027739 Q9Y4F4:p.Glu416Gln SP substitution exon 1 VAR_027740 Q9Y4F4:p.Leu511Val SP substitution exon 1 VAR_027741 Q8WVF1:p.Pro31Arg SP substitution exon 1 VAR_027742 Q8WVF1:p.Lys242Glu SP substitution exon 1 VAR_027743 Q6UWL2:p.His524Gln SP substitution exon 1 VAR_027744 Q96L08:p.Lys136Glu SP substitution exon 1 VAR_027745 Q5FWE3:p.Gln138Glu SP substitution exon 1 VAR_027746 Q5FWE3:p.Leu860Ile SP substitution exon 1 VAR_027747 O95971:p.Ile91Val SP substitution exon 1 VAR_027748 Q8WWH5:p.Arg167Lys SP substitution exon 1 VAR_027749 O95900:p.Val93Leu SP substitution exon 1 VAR_027750 Q8N7U6:p.Val331Ile SP substitution exon 1 VAR_027751 Q8N7U6:p.Thr382Ile SP substitution exon 1 VAR_027752 Q8N7U6:p.Gln663Pro SP substitution exon 1 VAR_027753 Q8N6Y0:p.Met439Val SP substitution exon 1 VAR_027754 Q8N6Y0:p.Val525Met SP substitution exon 1 VAR_027755 Q96PX8:p.Leu552Met SP substitution exon 1 VAR_027756 Q9H156:p.Ser601Pro SP substitution exon 1 VAR_027757 O94933:p.Ile605Val SP substitution exon 1 VAR_027758 Q9H5Y7:p.Leu25Phe SP substitution exon 1 VAR_027759 Q9H5Y7:p.Pro315Arg SP substitution exon 1 VAR_027760 Q9H5Y7:p.Gln414Arg SP substitution exon 1 VAR_027761 O60502:p.Gly46Glu SP substitution exon 1 VAR_027762 O60502:p.Glu602Lys SP substitution exon 1 VAR_027763 Q9Y5Y7:p.Trp116Arg SP substitution exon 1 VAR_027764 Q9Y5Y7:p.Thr214Ile SP substitution exon 1 VAR_027765 Q9Y5Y7:p.Val315Met SP substitution exon 1 VAR_027766 Q8IZL8:p.Thr1126Ser SP substitution exon 1 VAR_027767 O75459:p.Leu75Pro SP substitution exon 1 VAR_027768 O75578:p.Arg381Gln SP substitution exon 1 VAR_027769 O75578:p.Arg691His SP substitution exon 1 VAR_027770 O75578:p.Arg725Gln SP substitution exon 1 VAR_027771 O75976:p.Lys36Glu SP substitution exon 1 VAR_027772 O75976:p.Glu454Gly SP substitution exon 1 VAR_027773 O75976:p.His505Asn SP substitution exon 1 VAR_027774 O75976:p.Thr899Ile SP substitution exon 1 VAR_027775 O76074:p.Ala93Val SP substitution exon 1 VAR_027776 O76074:p.Ser181Ala SP substitution exon 1 VAR_027777 Q8IYM0:p.Val397Met SP substitution exon 1 VAR_027778 Q8IYM0:p.Glu553Gln SP substitution exon 1 VAR_027779 Q8N6Q8:p.Gln249Lys SP substitution exon 1 VAR_027780 Q96LU7:p.Ala118Ser SP substitution exon 1 VAR_027781 Q96LU7:p.Met210Leu SP substitution exon 1 VAR_027782 Q86TY3:p.Thr96Ile SP substitution exon 1 VAR_027783 Q86TY3:p.Ala391Val SP substitution exon 1 VAR_027784 Q86TY3:p.Val528Phe SP substitution exon 1 VAR_027785 Q86TY3:p.Gln613Glu SP substitution exon 1 VAR_027786 Q96EU6:p.Ala78Gly SP substitution exon 1 VAR_027787 Q8TCS8:p.Ile121Val SP substitution exon 1 VAR_027788 Q8TCS8:p.Asn590Asp SP substitution exon 1 VAR_027789 Q8NHQ9:p.Val101Leu SP substitution exon 1 VAR_027790 Q8NHQ9:p.Glu154Gly SP substitution exon 1 VAR_027791 Q8NHQ9:p.Asn264Ser SP substitution exon 1 VAR_027793 Q17R60:p.His518Asp SP substitution exon 1 VAR_027794 Q17R60:p.Arg704Trp SP substitution exon 1 VAR_027795 P27635:p.Leu206Met SP substitution exon 1 VAR_027796 P27635:p.His213Gln SP substitution exon 1 VAR_027797 P08567:p.Arg5Trp SP substitution exon 1 VAR_027798 P08567:p.Lys97Asn SP substitution exon 1 VAR_027799 P08567:p.Arg340Lys SP substitution exon 1 VAR_027800 P09132:p.Ala4Thr SP substitution exon 1 VAR_027801 P11117:p.Arg29Gln SP substitution exon 1 VAR_027802 P12524:p.Thr362Ser SP substitution exon 1 VAR_027803 P16144:p.Gln478His SP substitution exon 1 VAR_027804 P16144:p.Leu1779Pro SP substitution exon 1 VAR_027805 O60225:p.Glu19Gln SP substitution exon 1 VAR_027806 O43593:p.Gly337Asp SP substitution exon 1 VAR_027807 O43593:p.Pro924Leu SP substitution exon 1 VAR_027808 O60412:p.Thr118Met SP substitution exon 1 VAR_027809 O75132:p.Ile420Val SP substitution exon 1 VAR_027810 O43829:p.Glu77Gly SP substitution exon 1 VAR_027811 O43829:p.Gln139Arg SP substitution exon 1 VAR_027812 O75354:p.Ser14Asn SP substitution exon 1 VAR_027813 O75354:p.Lys202Glu SP substitution exon 1 VAR_027815 Q8ND07:p.Lys496Glu SP substitution exon 1 VAR_027824 O60449:p.Glu268Asp SP substitution exon 1 VAR_027825 O60449:p.Lys486Met SP substitution exon 1 VAR_027826 O60449:p.Asp807Glu SP substitution exon 1 VAR_027827 O60449:p.Asp884Ala SP substitution exon 1 VAR_027828 O60449:p.Thr1202Ser SP substitution exon 1 VAR_027829 O60449:p.Lys1321Asn SP substitution exon 1 VAR_027830 O60449:p.Lys1347Arg SP substitution exon 1 VAR_027831 O60449:p.Tyr1391His SP substitution exon 1 VAR_027832 O95626:p.Leu46Phe SP substitution exon 1 VAR_027833 O95628:p.Ala7Gly SP substitution exon 1 VAR_027834 P07492:p.Arg4Ser SP substitution exon 1 VAR_027835 O95825:p.Ala39Thr SP substitution exon 1 VAR_027836 O95947:p.Ser178Phe SP substitution exon 1 VAR_027837 O95947:p.Pro179Ser SP substitution exon 1 VAR_027838 O96001:p.Leu12Val SP substitution exon 1 VAR_027839 Q9BYW2:p.Val768Leu SP substitution exon 1 VAR_027840 Q9BYW2:p.Ala1868Asp SP substitution exon 1 VAR_027841 Q9BYW2:p.Pro1962Leu SP substitution exon 1 VAR_027842 Q6L9W6:p.Gly59Ser SP substitution exon 1 VAR_027843 Q6L9W6:p.Arg265Gln SP substitution exon 1 VAR_027844 Q6L9W6:p.Lys411Arg SP substitution exon 1 VAR_027845 Q8TBF4:p.Pro131Gln SP substitution exon 1 VAR_027846 Q8N1K5:p.Val284Gly SP substitution exon 1 VAR_027848 Q53H12:p.Val3Met SP substitution exon 1 VAR_027849 Q6Y288:p.Glu370Lys SP substitution exon 1 VAR_027850 Q8IVL8:p.Met85Ile SP substitution exon 1 VAR_027851 Q8IVL8:p.Ser134Arg SP substitution exon 1 VAR_027852 Q1MX18:p.Gln450Arg SP substitution exon 1 VAR_027853 Q07065:p.Ala348Thr SP substitution exon 1 VAR_027854 Q6P1X5:p.Pro8Leu SP substitution exon 1 VAR_027855 Q6P1X5:p.Ser447Thr SP substitution exon 1 VAR_027856 Q6P1X5:p.Ser1122Asn SP substitution exon 1 VAR_027857 Q6P1X5:p.Thr1139Ala SP substitution exon 1 VAR_027859 Q53GL7:p.Ile249Val SP substitution exon 1 VAR_027860 Q53GL7:p.Leu395Pro SP substitution exon 1 VAR_027861 Q53GL7:p.Val630Ala SP substitution exon 1 VAR_027862 Q460N3:p.Arg315Lys SP substitution exon 1 VAR_027863 Q460N3:p.Gly606Arg SP substitution exon 1 VAR_027864 Q8N5Y8:p.Ser280Pro SP substitution exon 1 VAR_027865 Q9BYD6:p.Thr47Lys SP substitution exon 1 VAR_027866 Q9BYD6:p.Phe177Ser SP substitution exon 1 VAR_027868 P22749:p.Thr119Ile SP substitution exon 1 VAR_027869 Q14624:p.Ile85Asn SP substitution exon 1 VAR_027870 Q14624:p.Gln669Leu SP substitution exon 1 VAR_027871 Q14624:p.Pro698Thr SP substitution exon 1 VAR_027872 Q14624:p.Met714Ile SP substitution exon 1 VAR_027873 Q14624:p.Leu791Pro SP substitution exon 1 VAR_027874 Q14686:p.Pro512Leu SP substitution exon 1 VAR_027875 Q14686:p.Asn955Ser SP substitution exon 1 VAR_027876 Q14686:p.Ile1995Val SP substitution exon 1 VAR_027877 Q14849:p.Arg117Gln SP substitution exon 1 VAR_027878 Q14849:p.Gly216Ala SP substitution exon 1 VAR_027882 Q15003:p.Val539Ala SP substitution exon 1 VAR_027883 Q66K79:p.Leu5Pro SP substitution exon 1 VAR_027884 Q66K79:p.Thr501Met SP substitution exon 1 VAR_027885 Q9NPL8:p.Asn76Asp SP substitution exon 1 VAR_027886 Q8ND61:p.Gly42Asp SP substitution exon 1 VAR_027887 Q8ND61:p.Asp65Asn SP substitution exon 1 VAR_027888 Q8ND61:p.Ser230Tyr SP substitution exon 1 VAR_027889 Q8ND61:p.Ala298Thr SP substitution exon 1 VAR_027890 Q8ND61:p.Ile407Val SP substitution exon 1 VAR_027891 Q8ND61:p.Leu422Val SP substitution exon 1 VAR_027892 Q8NEM1:p.Ser132Phe SP substitution exon 1 VAR_027893 Q8NEM1:p.Asp330Gly SP substitution exon 1 VAR_027894 Q8NEM1:p.Asn525Asp SP substitution exon 1 VAR_027895 Q8TB37:p.Asn198Thr SP substitution exon 1 VAR_027896 Q8TC84:p.Arg46Ser SP substitution exon 1 VAR_027897 Q8TDM6:p.Gln140Arg SP substitution exon 1 VAR_027898 Q8TDM6:p.Pro1481Gln SP substitution exon 1 VAR_027899 Q8TDM6:p.Ala1600Val SP substitution exon 1 VAR_027900 Q8TD19:p.Arg429His SP substitution exon 1 VAR_027901 Q8TE23:p.Ser9Cys SP substitution exon 1 VAR_027902 Q8TE23:p.Arg838Lys SP substitution exon 1 VAR_027903 Q8TE73:p.Ile766Leu SP substitution exon 1 VAR_027904 Q8TE73:p.Ser1006Gly SP substitution exon 1 VAR_027905 Q8TE73:p.Met1081Val SP substitution exon 1 VAR_027906 Q8TE73:p.Thr3791Ile SP substitution exon 1 VAR_027907 Q8TE85:p.Asp55Glu SP substitution exon 1 VAR_027908 Q8WV16:p.Trp22Cys SP substitution exon 1 VAR_027909 Q8WV16:p.Lys193Thr SP substitution exon 1 VAR_027910 Q8WV16:p.Asn266Ser SP substitution exon 1 VAR_027911 Q8WV16:p.Leu334Phe SP substitution exon 1 VAR_027912 Q8WV16:p.Ser345Cys SP substitution exon 1 VAR_027914 Q8WV44:p.Ala78Thr SP substitution exon 1 VAR_027915 Q8WV44:p.Asp438Gly SP substitution exon 1 VAR_027916 Q9Y2T7:p.Gly9Val SP substitution exon 1 VAR_027917 Q9Y2T7:p.Ser63Pro SP substitution exon 1 VAR_027918 Q9Y2Y1:p.Ser24Ala SP substitution exon 1 VAR_027919 P29320:p.Arg914His SP substitution exon 1 VAR_027920 P30042:p.Val6Ala SP substitution exon 1 VAR_027921 P30042:p.Val148Met SP substitution exon 1 VAR_027922 P30307:p.Ser14Asn SP substitution exon 1 VAR_027923 P30307:p.Arg70Cys SP substitution exon 1 VAR_027924 P30307:p.Ser78Asn SP substitution exon 1 VAR_027926 Q16378:p.Arg96Gln SP substitution exon 1 VAR_027927 Q16378:p.Gln120Arg SP substitution exon 1 VAR_027928 Q16720:p.Ile198Met SP substitution exon 1 VAR_027929 Q16821:p.Gly45Ser SP substitution exon 1 VAR_027930 Q16821:p.Cys231Tyr SP substitution exon 1 VAR_027931 Q16821:p.Val451Met SP substitution exon 1 VAR_027932 Q16821:p.Asn476Lys SP substitution exon 1 VAR_027933 Q16821:p.Glu748Lys SP substitution exon 1 VAR_027934 Q16821:p.Leu882His SP substitution exon 1 VAR_027935 Q9BV79:p.Phe96Leu SP substitution exon 1 VAR_027936 Q9BYZ2:p.Val14Met SP substitution exon 1 VAR_027937 Q9BYZ2:p.Pro30Leu SP substitution exon 1 VAR_027938 Q9BYZ2:p.Ile326Thr SP substitution exon 1 VAR_027939 Q9Y3R5:p.Cys1118Gly SP substitution exon 1 VAR_027940 Q9Y3R5:p.Pro1149His SP substitution exon 1 VAR_027941 Q9Y3R5:p.Arg1217Ser SP substitution exon 1 VAR_027942 Q9Y3R5:p.Gly2139Glu SP substitution exon 1 VAR_027943 Q9GZV4:p.Glu42Asp SP substitution exon 1 VAR_027944 Q96L12:p.Leu8Phe SP substitution exon 1 VAR_027945 Q96L12:p.Asp248Gly SP substitution exon 1 VAR_027946 Q96L12:p.Val274Ile SP substitution exon 1 VAR_027947 Q8WXH0:p.Pro8Ser SP substitution exon 1 VAR_027948 Q8WXH0:p.Ile574Thr SP substitution exon 1 VAR_027949 Q8WXH0:p.Asn2358Ser SP substitution exon 1 VAR_027950 Q8WXH0:p.Ala2394Thr SP substitution exon 1 VAR_027951 Q8WXH0:p.Gly2801Ser SP substitution exon 1 VAR_027952 Q8WZ64:p.Arg1523Gln SP substitution exon 1 VAR_027953 Q92793:p.Val1414Ile SP substitution exon 1 VAR_027954 Q92859:p.Pro534Leu SP substitution exon 1 VAR_027955 Q92932:p.Ser140Thr SP substitution exon 1 VAR_027956 Q92932:p.Arg213His SP substitution exon 1 VAR_027957 Q92985:p.Lys179Glu SP substitution exon 1 VAR_027958 Q96C86:p.Gly73Glu SP substitution exon 1 VAR_027959 Q96DB9:p.Arg176His SP substitution exon 1 VAR_027960 Q96DN5:p.Arg414His SP substitution exon 1 VAR_027962 Q96DZ5:p.Asp175Val SP substitution exon 1 VAR_027965 Q96EY1:p.Asn75Tyr SP substitution exon 1 VAR_027966 Q96F46:p.Ala367Val SP substitution exon 1 VAR_027967 Q96F46:p.Arg580His SP substitution exon 1 VAR_027968 Q96G03:p.Gly10Asp SP substitution exon 1 VAR_027970 Q96GD4:p.His100Gln SP substitution exon 1 VAR_027971 Q96GD4:p.Met298Thr SP substitution exon 1 VAR_027972 Q96I51:p.Arg30Gly SP substitution exon 1 VAR_027975 Q96N87:p.Cys12Ser SP substitution exon 1 VAR_027976 Q96N87:p.Thr32Ile SP substitution exon 1 VAR_027977 Q96N87:p.Pro478Leu SP substitution exon 1 VAR_027978 Q96ND8:p.Phe324Ile SP substitution exon 1 VAR_027979 O43240:p.Ser50Ala SP substitution exon 1 VAR_027980 O43240:p.Leu149Pro SP substitution exon 1 VAR_027981 Q8NHU2:p.Pro74Arg SP substitution exon 1 VAR_027982 Q8NHU2:p.His254Arg SP substitution exon 1 VAR_027983 Q8NHU2:p.Val369Ile SP substitution exon 1 VAR_027984 Q8NHU2:p.Pro371Leu SP substitution exon 1 VAR_027985 Q8NHU2:p.Asp505Glu SP substitution exon 1 VAR_027986 Q8NHU2:p.Pro660Leu SP substitution exon 1 VAR_027987 Q8NHU2:p.Val671Ile SP substitution exon 1 VAR_027988 Q8NI35:p.Gly303Arg SP substitution exon 1 VAR_027989 Q8NI35:p.Glu362Ala SP substitution exon 1 VAR_027990 Q8NI35:p.Ile400Val SP substitution exon 1 VAR_027991 Q8NI35:p.Gln599His SP substitution exon 1 VAR_027992 Q8NI35:p.Glu779Lys SP substitution exon 1 VAR_027993 Q8NI35:p.Glu780Lys SP substitution exon 1 VAR_027994 Q8NI35:p.Ile870Met SP substitution exon 1 VAR_027995 Q8NI35:p.Gly1178Ser SP substitution exon 1 VAR_027999 P52597:p.Lys87Arg SP substitution exon 1 VAR_028000 P30679:p.Tyr147Cys SP substitution exon 1 VAR_028001 P31268:p.Ala18Thr SP substitution exon 1 VAR_028002 P32019:p.Met745Thr SP substitution exon 1 VAR_028005 P35626:p.Val409Met SP substitution exon 1 VAR_028006 P36269:p.Leu11Ile SP substitution exon 1 VAR_028007 P36269:p.Lys330Arg SP substitution exon 1 VAR_028008 P36269:p.Gln332His SP substitution exon 1 VAR_028010 Q86X83:p.Ile113Leu SP substitution exon 1 VAR_028011 Q86X83:p.Gln177His SP substitution exon 1 VAR_028012 Q86YB8:p.Asp129Val SP substitution exon 1 VAR_028013 Q86YH2:p.Glu256Ala SP substitution exon 1 VAR_028014 Q86YH2:p.Val522Gly SP substitution exon 1 VAR_028015 Q86YL7:p.Ala105Gly SP substitution exon 1 VAR_028017 P23219:p.Val481Ile SP substitution exon 1 VAR_028018 P09917:p.Glu254Lys SP substitution exon 1 VAR_028019 Q9NPA5:p.Gln68Pro SP substitution exon 1 VAR_028020 Q9NPA5:p.Pro139Leu SP substitution exon 1 VAR_028021 Q9NPA5:p.Phe425Tyr SP substitution exon 1 VAR_028022 Q9NPA5:p.Ser451Asn SP substitution exon 1 VAR_028023 Q9NP92:p.Cys33Ser SP substitution exon 1 VAR_028024 Q9HC58:p.Leu49Pro SP substitution exon 1 VAR_028025 Q9HC58:p.Val55Ile SP substitution exon 1 VAR_028026 Q9HC58:p.Val168Ile SP substitution exon 1 VAR_028027 Q9HC58:p.Gly271Ser SP substitution exon 1 VAR_028028 Q9HC10:p.Arg818Trp SP substitution exon 1 VAR_028029 Q9HC10:p.Pro1646Ser SP substitution exon 1 VAR_028030 Q9HC10:p.Arg1680His SP substitution exon 1 VAR_028031 Q9HB75:p.Gln331Arg SP substitution exon 1 VAR_028032 Q9HAV4:p.Lys610Asn SP substitution exon 1 VAR_028033 Q9H981:p.Thr56Ile SP substitution exon 1 VAR_028034 Q9H8E8:p.Pro214Leu SP substitution exon 1 VAR_028035 Q9H8E8:p.Val400Gly SP substitution exon 1 VAR_028037 Q9H4L7:p.Ser66Phe SP substitution exon 1 VAR_028038 Q9H4L7:p.Leu135Phe SP substitution exon 1 VAR_028039 Q9H4L7:p.Arg140Cys SP substitution exon 1 VAR_028040 Q9H4L7:p.Ser245Tyr SP substitution exon 1 VAR_028041 Q9H4L7:p.Ser247Asn SP substitution exon 1 VAR_028042 Q9H4L7:p.Val301Ala SP substitution exon 1 VAR_028043 Q9H4L7:p.Pro351Gln SP substitution exon 1 VAR_028045 Q9NV58:p.Gln835His SP substitution exon 1 VAR_028046 Q9NVX7:p.Asp330Asn SP substitution exon 1 VAR_028047 Q9NVA1:p.Arg51Gln SP substitution exon 1 VAR_028048 Q9NVA1:p.Pro85Leu SP substitution exon 1 VAR_028049 Q9NRL2:p.Asp344Glu SP substitution exon 1 VAR_028050 Q9NR33:p.Gly17Val SP substitution exon 1 VAR_028051 P35573:p.Gln229Arg SP substitution exon 1 VAR_028052 P35573:p.Ala701Ser SP substitution exon 1 VAR_028053 P35573:p.Ile1144Asn SP substitution exon 1 VAR_028054 P35573:p.Arg1253His SP substitution exon 1 VAR_028055 P35573:p.Arg1487Gly SP substitution exon 1 VAR_028056 P36404:p.Val141Ala SP substitution exon 1 VAR_028057 P37108:p.Pro51Ser SP substitution exon 1 VAR_028058 P37108:p.Ser68Ile SP substitution exon 1 VAR_028064 P37198:p.Gly139Ser SP substitution exon 1 VAR_028065 P37198:p.Ser283Thr SP substitution exon 1 VAR_028067 P41145:p.Asp374Asn SP substitution exon 1 VAR_028068 P41247:p.Val48Gly SP substitution exon 1 VAR_028069 P41247:p.Asp134Gly SP substitution exon 1 VAR_028071 P42261:p.Asp487Asn SP substitution exon 1 VAR_028072 P42261:p.Pro521Thr SP substitution exon 1 VAR_028073 P42261:p.Ala536Ser SP substitution exon 1 VAR_028074 P42261:p.Ile548Met SP substitution exon 1 VAR_028075 P42261:p.Phe588Leu SP substitution exon 1 VAR_028076 Q96CK0:p.Lys54Arg SP substitution exon 1 VAR_028077 Q7Z340:p.Asn218Ser SP substitution exon 1 VAR_028078 Q7Z340:p.Arg550Trp SP substitution exon 1 VAR_028079 Q7L014:p.Glu207Gln SP substitution exon 1 VAR_028080 Q7Z304:p.Ser294Asn SP substitution exon 1 VAR_028081 Q7Z408:p.Leu167Pro SP substitution exon 1 VAR_028082 Q7Z408:p.Arg2096Lys SP substitution exon 1 VAR_028083 Q7Z408:p.Ala2117Val SP substitution exon 1 VAR_028084 Q7Z408:p.Met2554Val SP substitution exon 1 VAR_028085 Q7Z408:p.Leu2661Arg SP substitution exon 1 VAR_028086 Q7Z408:p.Ser3406Phe SP substitution exon 1 VAR_028087 Q7Z7J5:p.Arg131Gln SP substitution exon 1 VAR_028089 Q86TI0:p.Ser14Pro SP substitution exon 1 VAR_028090 Q86TI0:p.Thr55Ile SP substitution exon 1 VAR_028091 Q86TI0:p.Val228Gly SP substitution exon 1 VAR_028094 Q6PCE3:p.Leu14Pro SP substitution exon 1 VAR_028095 Q6PCE3:p.Val531Ile SP substitution exon 1 VAR_028096 Q6PF04:p.Asp84Asn SP substitution exon 1 VAR_028097 Q6PF04:p.Lys93Glu SP substitution exon 1 VAR_028098 Q6PF04:p.Ile135Arg SP substitution exon 1 VAR_028099 Q6PIJ6:p.Ser592Pro SP substitution exon 1 VAR_028100 Q15022:p.Asn216Ile SP substitution exon 1 VAR_028101 Q15257:p.Lys28Arg SP substitution exon 1 VAR_028102 Q15257:p.Arg208Gln SP substitution exon 1 VAR_028103 Q15257:p.Ser357Leu SP substitution exon 1 VAR_028104 Q15269:p.Asp25Asn SP substitution exon 1 VAR_028105 Q15269:p.Phe551Ile SP substitution exon 1 VAR_028106 Q15276:p.Glu640Gly SP substitution exon 1 VAR_028107 Q15735:p.Ser333Ile SP substitution exon 1 VAR_028108 Q3LXA3:p.Ala185Thr SP substitution exon 1 VAR_028109 Q4KMQ2:p.Ala128Thr SP substitution exon 1 VAR_028110 Q53FE4:p.Gly64Glu SP substitution exon 1 VAR_028111 Q53FE4:p.Ser85Pro SP substitution exon 1 VAR_028112 Q53FE4:p.Glu91Lys SP substitution exon 1 VAR_028113 Q9Y219:p.Glu501Lys SP substitution exon 1 VAR_028114 Q9BVG8:p.Gly391Val SP substitution exon 1 VAR_028115 Q9BW71:p.Gly521Trp SP substitution exon 1 VAR_028116 Q9BWT7:p.Arg289Gln SP substitution exon 1 VAR_028117 Q9BXL7:p.Thr670Met SP substitution exon 1 VAR_028118 Q9BXL7:p.Ser694Leu SP substitution exon 1 VAR_028119 Q9BWV7:p.Gly3Arg SP substitution exon 1 VAR_028120 Q9BWV7:p.Thr127Ala SP substitution exon 1 VAR_028121 Q9BWV7:p.Leu202Pro SP substitution exon 1 VAR_028122 Q9BWV7:p.Arg425Gly SP substitution exon 1 VAR_028123 Q9BWV7:p.Gly445Ser SP substitution exon 1 VAR_028124 Q9BWV7:p.Gln529His SP substitution exon 1 VAR_028125 Q9BXR5:p.Leu167Pro SP substitution exon 1 VAR_028126 Q9BXR5:p.Val298Ile SP substitution exon 1 VAR_028127 Q9BXR5:p.Arg469Gly SP substitution exon 1 VAR_028128 Q9BXR5:p.Ile473Thr SP substitution exon 1 VAR_028129 Q9BXR5:p.Tyr736Cys SP substitution exon 1 VAR_028130 Q9BXR5:p.Ile775Leu SP substitution exon 1 VAR_028131 Q9BXR5:p.Arg799Gln SP substitution exon 1 VAR_028132 Q9BXT8:p.Gly467Ser SP substitution exon 1 VAR_028133 Q9BXT8:p.Ser501Gly SP substitution exon 1 VAR_028134 Q9BY42:p.Thr159Ala SP substitution exon 1 VAR_028135 Q9BY42:p.Met171Val SP substitution exon 1 VAR_028136 Q9BYD2:p.Glu67Gly SP substitution exon 1 VAR_028138 Q9BYG8:p.Pro23Ser SP substitution exon 1 VAR_028139 Q9BYG8:p.Arg150Lys SP substitution exon 1 VAR_028140 Q9BYG8:p.Met475Thr SP substitution exon 1 VAR_028141 Q9C0C2:p.Thr322Ser SP substitution exon 1 VAR_028142 Q9H2G9:p.Gln40Arg SP substitution exon 1 VAR_028143 Q9H2G9:p.Arg196Gln SP substitution exon 1 VAR_028144 Q9H3T2:p.Thr455Pro SP substitution exon 1 VAR_028145 Q9Y3T9:p.Ala271Val SP substitution exon 1 VAR_028146 Q9Y3T9:p.Ile300Val SP substitution exon 1 VAR_028147 Q8TEM1:p.Ala297Thr SP substitution exon 1 VAR_028148 Q8TEM1:p.Ile608Val SP substitution exon 1 VAR_028149 Q8TEM1:p.Ala755Val SP substitution exon 1 VAR_028150 Q8TEM1:p.Pro821Ala SP substitution exon 1 VAR_028151 Q8TEM1:p.Ala944Pro SP substitution exon 1 VAR_028152 Q8TEM1:p.Met1096Ile SP substitution exon 1 VAR_028153 Q8TEM1:p.Asp1430Glu SP substitution exon 1 VAR_028155 Q8IV03:p.Ser62Gly SP substitution exon 1 VAR_028156 Q8IV42:p.Gly206Arg SP substitution exon 1 VAR_028157 Q8IXJ9:p.Leu815Pro SP substitution exon 1 VAR_028158 Q8IXJ9:p.Leu1325Phe SP substitution exon 1 VAR_028159 Q8IZP7:p.Lys265Arg SP substitution exon 1 VAR_028160 Q8N1F7:p.Ser509Arg SP substitution exon 1 VAR_028161 Q8N456:p.Gly7Val SP substitution exon 1 VAR_028162 Q8N456:p.Arg31His SP substitution exon 1 VAR_028164 Q8N567:p.Pro15Ala SP substitution exon 1 VAR_028165 Q8N720:p.Glu52Asp SP substitution exon 1 VAR_028166 Q8N8U9:p.Arg555Trp SP substitution exon 1 VAR_028167 P51587:p.Gly25Arg SP substitution exon 1 VAR_028168 P51587:p.Trp31Cys SP substitution exon 1 VAR_028169 P51587:p.Trp31Arg SP substitution exon 1 VAR_028170 Q12891:p.Ser18Ala SP substitution exon 1 VAR_028171 Q13023:p.Ala337Val SP substitution exon 1 VAR_028172 Q13023:p.Asn408Ser SP substitution exon 1 VAR_028173 Q13023:p.Ala1492Val SP substitution exon 1 VAR_028174 Q13023:p.Asn2035Asp SP substitution exon 1 VAR_028175 Q13023:p.Phe2171Tyr SP substitution exon 1 VAR_028176 Q13023:p.Asp2209His SP substitution exon 1 VAR_028177 Q12950:p.Ile134Phe SP substitution exon 1 VAR_028178 Q12950:p.Asp136Gly SP substitution exon 1 VAR_028179 Q12950:p.Ile152Val SP substitution exon 1 VAR_028180 Q13107:p.Tyr620Cys SP substitution exon 1 VAR_028181 Q13203:p.Gln48His SP substitution exon 1 VAR_028182 Q13203:p.Ala49Gly SP substitution exon 1 VAR_028183 Q13203:p.Ala114Gly SP substitution exon 1 VAR_028184 Q13255:p.Ser34Tyr SP substitution exon 1 VAR_028185 Q13255:p.Arg285Lys SP substitution exon 1 VAR_028186 Q13255:p.Glu741Asp SP substitution exon 1 VAR_028187 Q13255:p.Gly884Glu SP substitution exon 1 VAR_028188 Q13255:p.Ser993Pro SP substitution exon 1 VAR_028189 Q13277:p.Glu83Asp SP substitution exon 1 VAR_028190 Q13287:p.Ser16Leu SP substitution exon 1 VAR_028191 Q13492:p.Thr158Pro SP substitution exon 1 VAR_028192 Q13492:p.Ser383Phe SP substitution exon 1 VAR_028193 Q13492:p.Trp578Cys SP substitution exon 1 VAR_028194 Q13492:p.Gln579Glu SP substitution exon 1 VAR_028195 Q13492:p.Phe641Leu SP substitution exon 1 VAR_028196 Q13557:p.Gln463Glu SP substitution exon 1 VAR_028197 Q14154:p.Ala95Thr SP substitution exon 1 VAR_028198 Q14154:p.Arg468Cys SP substitution exon 1 VAR_028199 Q9UNA0:p.Gly138Ala SP substitution exon 1 VAR_028200 Q9UNA0:p.Leu692Pro SP substitution exon 1 VAR_028201 P48357:p.Ile503Val SP substitution exon 1 VAR_028202 P49419:p.Thr412Ala SP substitution exon 1 VAR_028203 P49419:p.Lys439Gln SP substitution exon 1 VAR_028204 P49588:p.Gly275Asp SP substitution exon 1 VAR_028205 P49703:p.Thr91Asn SP substitution exon 1 VAR_028206 P51159:p.Thr62Ser SP substitution exon 1 VAR_028207 P51159:p.Leu84Phe SP substitution exon 1 VAR_028208 P51159:p.Thr85Pro SP substitution exon 1 VAR_028209 P51172:p.Arg180Pro SP substitution exon 1 VAR_028210 P51172:p.Glu380Gln SP substitution exon 1 VAR_028211 P51172:p.Ala472Thr SP substitution exon 1 VAR_028212 P51172:p.Cys532Tyr SP substitution exon 1 VAR_028213 P51172:p.Gly562Ser SP substitution exon 1 VAR_028214 P51172:p.Gly606Arg SP substitution exon 1 VAR_028215 P51532:p.Val561Glu SP substitution exon 1 VAR_028216 P51532:p.Met1036Ile SP substitution exon 1 VAR_028217 P51816:p.Leu1185Met SP substitution exon 1 VAR_028218 P59817:p.Lys71Asn SP substitution exon 1 VAR_028219 P59817:p.Asn136Ser SP substitution exon 1 VAR_028220 P59817:p.Tyr137Ser SP substitution exon 1 VAR_028221 P59817:p.Asn246Ser SP substitution exon 1 VAR_028222 P59817:p.Gly249Ala SP substitution exon 1 VAR_028223 P59817:p.Leu276Phe SP substitution exon 1 VAR_028224 P59817:p.Asn278Asp SP substitution exon 1 VAR_028225 P59817:p.Phe486Leu SP substitution exon 1 VAR_028226 P59817:p.Arg488Ser SP substitution exon 1 VAR_028227 Q9UKS7:p.Asn93Ser SP substitution exon 1 VAR_028228 P52736:p.Ser193Thr SP substitution exon 1 VAR_028229 P52736:p.Gly194Glu SP substitution exon 1 VAR_028230 P53396:p.Glu175Asp SP substitution exon 1 VAR_028231 P55084:p.Pro209Ser SP substitution exon 1 VAR_028232 P55201:p.Gly1117Glu SP substitution exon 1 VAR_028234 P60410:p.His26Arg SP substitution exon 1 VAR_028235 P05060:p.Asp145Asn SP substitution exon 1 VAR_028236 P05060:p.Asn200His SP substitution exon 1 VAR_028237 P05060:p.Arg232Gln SP substitution exon 1 VAR_028239 Q96B36:p.Ala47Pro SP substitution exon 1 VAR_028240 P17516:p.Gly135Glu SP substitution exon 1 VAR_028241 P17516:p.Cys170Tyr SP substitution exon 1 VAR_028242 P17516:p.Gln250Arg SP substitution exon 1 VAR_028243 P18428:p.Pro9Leu SP substitution exon 1 VAR_028244 P18428:p.Leu125Ile SP substitution exon 1 VAR_028245 P18428:p.Val166Met SP substitution exon 1 VAR_028246 P18428:p.Met242Ile SP substitution exon 1 VAR_028247 P18428:p.Asp283Gly SP substitution exon 1 VAR_028248 P18428:p.His294Arg SP substitution exon 1 VAR_028249 P18428:p.Pro333Leu SP substitution exon 1 VAR_028250 P18428:p.Leu339Phe SP substitution exon 1 VAR_028251 P18428:p.Phe436Leu SP substitution exon 1 VAR_028252 P18428:p.Ala445Thr SP substitution exon 1 VAR_028253 P18848:p.Gln22Pro SP substitution exon 1 VAR_028254 P19022:p.Ala21Thr SP substitution exon 1 VAR_028255 P19022:p.Ala118Thr SP substitution exon 1 VAR_028256 P19022:p.Ser196Thr SP substitution exon 1 VAR_028257 P19022:p.Ile212Leu SP substitution exon 1 VAR_028258 P19022:p.Asn845Ser SP substitution exon 1 VAR_028259 P19388:p.Ser44Phe SP substitution exon 1 VAR_028260 P20138:p.Arg69Gly SP substitution exon 1 VAR_028261 P20138:p.Arg202Trp SP substitution exon 1 VAR_028262 P20138:p.Ile242Leu SP substitution exon 1 VAR_028263 P20138:p.Phe243Leu SP substitution exon 1 VAR_028264 P20138:p.Val294Leu SP substitution exon 1 VAR_028265 P21709:p.Val160Ala SP substitution exon 1 VAR_028266 P21709:p.Arg492Gln SP substitution exon 1 VAR_028267 P21709:p.Met900Val SP substitution exon 1 VAR_028268 P23280:p.Thr55Met SP substitution exon 1 VAR_028269 P23280:p.Met68Leu SP substitution exon 1 VAR_028270 P23280:p.Gly70Ala SP substitution exon 1 VAR_028271 P23280:p.Ser90Gly SP substitution exon 1 VAR_028272 P26572:p.Arg223Gln SP substitution exon 1 VAR_028273 P26572:p.Leu435Pro SP substitution exon 1 VAR_028275 Q9UJY4:p.Ala424Pro SP substitution exon 1 VAR_028276 P10071:p.Thr183Ala SP substitution exon 1 VAR_028278 P10071:p.Pro998Leu SP substitution exon 1 VAR_028279 Q96NJ5:p.Asn129Ser SP substitution exon 1 VAR_028280 Q96NJ5:p.Asp146Gly SP substitution exon 1 VAR_028281 Q96NR8:p.Arg161Gln SP substitution exon 1 VAR_028282 Q96P09:p.His196Tyr SP substitution exon 1 VAR_028283 Q96PP9:p.Lys125Glu SP substitution exon 1 VAR_028284 Q96PP9:p.Ile379Val SP substitution exon 1 VAR_028285 Q96PP9:p.Tyr541Asn SP substitution exon 1 VAR_028286 Q96PP9:p.Leu549Met SP substitution exon 1 VAR_028287 Q96PP9:p.Glu551Lys SP substitution exon 1 VAR_028288 Q96PP9:p.Glu551Gly SP substitution exon 1 VAR_028289 Q96QU1:p.Ser19Ala SP substitution exon 1 VAR_028290 Q96QU1:p.Gly380Ser SP substitution exon 1 VAR_028291 Q96QU1:p.Asp435Ala SP substitution exon 1 VAR_028292 Q96QU1:p.Arg929Gln SP substitution exon 1 VAR_028293 Q96RG2:p.Val250Ile SP substitution exon 1 VAR_028294 Q96RG2:p.Leu514Ser SP substitution exon 1 VAR_028295 Q96RG2:p.Val694Met SP substitution exon 1 VAR_028296 Q96RG2:p.Gly725Asp SP substitution exon 1 VAR_028299 Q9BPV8:p.Thr179Met SP substitution exon 1 VAR_028300 Q96RI0:p.Ala120Thr SP substitution exon 1 VAR_028301 Q96RI0:p.Arg215Gln SP substitution exon 1 VAR_028302 Q96RK0:p.Ser982Gly SP substitution exon 1 VAR_028303 Q96RP9:p.Val215Ile SP substitution exon 1 VAR_028304 Q96RT1:p.Lys746Glu SP substitution exon 1 VAR_028305 Q96RV3:p.Leu809Ile SP substitution exon 1 VAR_028306 Q96RV3:p.Leu814Ile SP substitution exon 1 VAR_028307 Q99571:p.Ala6Ser SP substitution exon 1 VAR_028308 Q99708:p.His387Tyr SP substitution exon 1 VAR_028309 Q99728:p.Ser728Phe SP substitution exon 1 VAR_028310 Q9BTC0:p.Pro13Leu SP substitution exon 1 VAR_028311 Q9BTC0:p.Pro276Leu SP substitution exon 1 VAR_028312 Q9Y3C8:p.Tyr90Cys SP substitution exon 1 VAR_028313 Q9BRR0:p.Gly33Val SP substitution exon 1 VAR_028314 Q9BRR0:p.Phe34Leu SP substitution exon 1 VAR_028315 Q9BRR0:p.Val189Met SP substitution exon 1 VAR_028316 Q9BRR0:p.Lys200Glu SP substitution exon 1 VAR_028317 Q9BRR0:p.Lys200Thr SP substitution exon 1 VAR_028318 Q9BRR0:p.His246Gln SP substitution exon 1 VAR_028319 Q9NSU2:p.Arg169His SP substitution exon 1 VAR_028321 Q9NSU2:p.Val256Asp SP substitution exon 1 VAR_028322 Q9H3S1:p.Asp345His SP substitution exon 1 VAR_028323 Q9H3S1:p.Phe350Cys SP substitution exon 1 VAR_028324 Q9H3S1:p.Arg510Gln SP substitution exon 1 VAR_028325 Q9H3S1:p.Arg713Gln SP substitution exon 1 VAR_028326 O15553:p.Arg42Trp SP substitution exon 1 VAR_028327 O15553:p.Ser108Arg SP substitution exon 1 VAR_028328 O15553:p.Glu148Val SP substitution exon 1 VAR_028329 O15553:p.Glu163Ala SP substitution exon 1 VAR_028330 O15553:p.Thr177Ile SP substitution exon 1 VAR_028331 O15553:p.Glu319Lys SP substitution exon 1 VAR_028332 O15553:p.Glu474Lys SP substitution exon 1 VAR_028333 O15553:p.His478Tyr SP substitution exon 1 VAR_028334 O15553:p.Phe585Leu SP substitution exon 1 VAR_028335 O15553:p.Gly632Ser SP substitution exon 1 VAR_028336 O15553:p.Ile640Met SP substitution exon 1 VAR_028337 O15553:p.Ile641Phe SP substitution exon 1 VAR_028338 O15553:p.Pro646Leu SP substitution exon 1 VAR_028339 O15553:p.Leu649Pro SP substitution exon 1 VAR_028340 O15553:p.Glu656Ala SP substitution exon 1 VAR_028341 O15553:p.Asp661Asn SP substitution exon 1 VAR_028342 O15553:p.Gly678Glu SP substitution exon 1 VAR_028343 O15553:p.Met680Ile SP substitution exon 1 VAR_028344 O15553:p.Tyr688Cys SP substitution exon 1 VAR_028345 O15553:p.Met694Leu SP substitution exon 1 VAR_028346 O15553:p.Lys695Met SP substitution exon 1 VAR_028347 O15553:p.Ser702Cys SP substitution exon 1 VAR_028348 O15553:p.Val704Ile SP substitution exon 1 VAR_028349 O15553:p.Pro705Ser SP substitution exon 1 VAR_028350 O15553:p.Ile720Met SP substitution exon 1 VAR_028351 O15553:p.Phe743Leu SP substitution exon 1 VAR_028352 O15553:p.Pro758Ser SP substitution exon 1 VAR_028353 O15553:p.Pro780Thr SP substitution exon 1 VAR_028354 Q9UBD9:p.Arg197Leu SP substitution exon 1 VAR_028355 O75462:p.Arg176Lys SP substitution exon 1 VAR_028356 O15078:p.Trp7Cys SP substitution exon 1 VAR_028359 Q9Y4A5:p.Arg878Leu SP substitution exon 1 VAR_028360 Q9NXF8:p.Val201Ile SP substitution exon 1 VAR_028361 Q9NWF4:p.Gln70Arg SP substitution exon 1 VAR_028362 Q9NWF4:p.Ala271Val SP substitution exon 1 VAR_028363 Q9NWF4:p.Val296Met SP substitution exon 1 VAR_028364 Q9Y5K2:p.Ser22Ala SP substitution exon 1 VAR_028366 Q8N9B4:p.Asn198Asp SP substitution exon 1 VAR_028367 Q7Z3Z4:p.Gln78Arg SP substitution exon 1 VAR_028368 P42681:p.Arg45His SP substitution exon 1 VAR_028369 P42681:p.Arg336Gln SP substitution exon 1 VAR_028370 O60313:p.Leu939Pro SP substitution exon 1 VAR_028371 Q93033:p.Asn225Ser SP substitution exon 1 VAR_028372 Q93033:p.Met415Val SP substitution exon 1 VAR_028373 Q93033:p.Arg518Gln SP substitution exon 1 VAR_028374 Q93033:p.Ser525Arg SP substitution exon 1 VAR_028375 Q93033:p.Val965Ile SP substitution exon 1 VAR_028376 Q93033:p.Arg988Cys SP substitution exon 1 VAR_028377 Q8N7B9:p.Gly341Arg SP substitution exon 1 VAR_028378 Q8N7B9:p.Met364Ile SP substitution exon 1 VAR_028379 Q8N7B9:p.Ser370Ala SP substitution exon 1 VAR_028380 Q8NFT8:p.Pro433Leu SP substitution exon 1 VAR_028381 Q13421:p.Ala72Val SP substitution exon 1 VAR_028382 Q13421:p.Arg309Pro SP substitution exon 1 VAR_028383 Q13421:p.Met601Val SP substitution exon 1 VAR_028384 Q8WWZ4:p.Pro203Ser SP substitution exon 1 VAR_028385 Q8WWZ4:p.Ile287Val SP substitution exon 1 VAR_028386 Q8WWZ4:p.Met916Thr SP substitution exon 1 VAR_028387 Q2M3G0:p.Lys115Glu SP substitution exon 1 VAR_028388 Q2M3G0:p.Lys224Arg SP substitution exon 1 VAR_028389 Q2M3G0:p.Ala470Thr SP substitution exon 1 VAR_028390 Q2M3G0:p.Glu525Lys SP substitution exon 1 VAR_028391 Q5T3U5:p.Ile948Thr SP substitution exon 1 VAR_028392 Q96J65:p.Ile9Leu SP substitution exon 1 VAR_028393 Q96J65:p.Ala102Glu SP substitution exon 1 VAR_028394 Q96J65:p.Asn587Tyr SP substitution exon 1 VAR_028395 Q96J65:p.Lys894Met SP substitution exon 1 VAR_028396 Q96J65:p.Thr989Ser SP substitution exon 1 VAR_028397 Q96J65:p.Tyr1013His SP substitution exon 1 VAR_028398 Q96J65:p.Arg1117Cys SP substitution exon 1 VAR_028399 Q96J65:p.Glu1191Ala SP substitution exon 1 VAR_028400 Q96J65:p.Phe1349Leu SP substitution exon 1 VAR_028402 Q5TAX3:p.Asp796Tyr SP substitution exon 1 VAR_028403 Q5SW96:p.Ser202Pro SP substitution exon 1 VAR_028404 Q5VY09:p.Arg92His SP substitution exon 1 VAR_028405 Q5VY09:p.Val168Ile SP substitution exon 1 VAR_028406 Q5VY09:p.Arg194Gly SP substitution exon 1 VAR_028407 Q5VY09:p.Gln202Arg SP substitution exon 1 VAR_028408 Q5VY09:p.Pro285Ser SP substitution exon 1 VAR_028409 Q6IQ26:p.Glu224Gln SP substitution exon 1 VAR_028410 P78424:p.Pro199Leu SP substitution exon 1 VAR_028411 P78424:p.Leu500Met SP substitution exon 1 VAR_028412 P78424:p.Glu639Lys SP substitution exon 1 VAR_028413 P98171:p.Ala104Val SP substitution exon 1 VAR_028414 Q00056:p.Thr70Pro SP substitution exon 1 VAR_028415 Q00056:p.Leu140Pro SP substitution exon 1 VAR_028416 Q00056:p.Leu178Phe SP substitution exon 1 VAR_028417 Q00056:p.Thr251Pro SP substitution exon 1 VAR_028418 Q00056:p.Pro317Ser SP substitution exon 1 VAR_028419 Q01518:p.Cys229Gly SP substitution exon 1 VAR_028420 Q01518:p.Cys236Gly SP substitution exon 1 VAR_028421 Q01518:p.Ile245Ser SP substitution exon 1 VAR_028422 Q01518:p.Cys247Gly SP substitution exon 1 VAR_028423 Q01518:p.Tyr249Asp SP substitution exon 1 VAR_028424 Q01518:p.Ser256Ala SP substitution exon 1 VAR_028425 Q01546:p.Ala283Thr SP substitution exon 1 VAR_028426 Q01546:p.Ala359Thr SP substitution exon 1 VAR_028427 Q01546:p.Thr629Met SP substitution exon 1 VAR_028428 Q02083:p.Val151Ile SP substitution exon 1 VAR_028429 Q07864:p.Pro99Leu SP substitution exon 1 VAR_028430 Q07864:p.Arg260Gln SP substitution exon 1 VAR_028431 Q07864:p.Arg1382Cys SP substitution exon 1 VAR_028432 Q07864:p.Glu1577Ala SP substitution exon 1 VAR_028433 Q07864:p.Ala1712Val SP substitution exon 1 VAR_028434 Q07864:p.Lys1857Arg SP substitution exon 1 VAR_028435 Q07864:p.Cys1935Tyr SP substitution exon 1 VAR_028436 Q08397:p.Arg141Leu SP substitution exon 1 VAR_028437 Q08999:p.Tyr210Cys SP substitution exon 1 VAR_028438 Q10588:p.Ala77Val SP substitution exon 1 VAR_028439 Q10588:p.Ile101Val SP substitution exon 1 VAR_028440 Q12772:p.Gly595Ala SP substitution exon 1 VAR_028441 Q12772:p.Val623Met SP substitution exon 1 VAR_028442 Q8WVT3:p.Ser301Gly SP substitution exon 1 VAR_028443 P56177:p.Ser136Cys SP substitution exon 1 VAR_028444 Q04771:p.Arg206His SP substitution exon 1 VAR_028445 P50454:p.Ala41Pro SP substitution exon 1 VAR_028446 P04275:p.Cys1060Arg SP substitution exon 1 VAR_028447 P00451:p.Ser19Arg SP substitution exon 1 VAR_028448 P00451:p.Arg22Thr SP substitution exon 1 VAR_028449 P00451:p.Tyr24Cys SP substitution exon 1 VAR_028450 P00451:p.Tyr25Cys SP substitution exon 1 VAR_028451 P00451:p.Leu26Pro SP substitution exon 1 VAR_028452 P00451:p.Trp33Gly SP substitution exon 1 VAR_028453 P00451:p.Tyr35Cys SP substitution exon 1 VAR_028454 P00451:p.Tyr35His SP substitution exon 1 VAR_028455 P00451:p.Arg48Lys SP substitution exon 1 VAR_028456 P00451:p.Lys67Glu SP substitution exon 1 VAR_028457 P00451:p.Lys67Asn SP substitution exon 1 VAR_028458 P00451:p.Leu69Pro SP substitution exon 1 VAR_028459 P00451:p.Asp75Glu SP substitution exon 1 VAR_028460 P00451:p.Asp75Tyr SP substitution exon 1 VAR_028463 P00451:p.Gly92Ala SP substitution exon 1 VAR_028464 P00451:p.Gly92Val SP substitution exon 1 VAR_028465 P00451:p.Glu98Lys SP substitution exon 1 VAR_028466 P00451:p.Asp101Gly SP substitution exon 1 VAR_028467 P00451:p.Asp101His SP substitution exon 1 VAR_028468 P00451:p.Asp101Val SP substitution exon 1 VAR_028469 P00451:p.Ala111Thr SP substitution exon 1 VAR_028470 P00451:p.Ala111Val SP substitution exon 1 VAR_028471 P00451:p.His113Arg SP substitution exon 1 VAR_028472 P00451:p.His113Tyr SP substitution exon 1 VAR_028473 P00451:p.Leu117Phe SP substitution exon 1 VAR_028474 P00451:p.Gly121Ser SP substitution exon 1 VAR_028475 P00451:p.Asp135Tyr SP substitution exon 1 VAR_028476 P00451:p.Thr137Ala SP substitution exon 1 VAR_028477 P00451:p.Ser138Arg SP substitution exon 1 VAR_028478 P00451:p.Glu141Lys SP substitution exon 1 VAR_028479 P00451:p.Asp145His SP substitution exon 1 VAR_028480 P00451:p.Val147Asp SP substitution exon 1 VAR_028481 P00451:p.Val159Ala SP substitution exon 1 VAR_028482 P00451:p.Asn163Lys SP substitution exon 1 VAR_028483 P00451:p.Gly164Asp SP substitution exon 1 VAR_028484 P00451:p.Cys172Trp SP substitution exon 1 VAR_028485 P00451:p.Ser176Pro SP substitution exon 1 VAR_028486 P00451:p.Ser179Pro SP substitution exon 1 VAR_028487 P00451:p.Asp186Gly SP substitution exon 1 VAR_028488 P00451:p.Asp186Tyr SP substitution exon 1 VAR_028489 P00451:p.Gly193Arg SP substitution exon 1 VAR_028490 P00451:p.Cys198Gly SP substitution exon 1 VAR_028491 P00451:p.Ser202Asn SP substitution exon 1 VAR_028492 P00451:p.Phe214Val SP substitution exon 1 VAR_028493 P00451:p.Leu217His SP substitution exon 1 VAR_028494 P00451:p.Ala219Asp SP substitution exon 1 VAR_028495 P00451:p.Ala219Thr SP substitution exon 1 VAR_028496 P00451:p.Val220Gly SP substitution exon 1 VAR_028497 P00451:p.Glu223Lys SP substitution exon 1 VAR_028498 P00451:p.Thr252Ile SP substitution exon 1 VAR_028499 P00451:p.Pro262Leu SP substitution exon 1 VAR_028500 P00451:p.Gly263Ser SP substitution exon 1 VAR_028501 P00451:p.Cys267Tyr SP substitution exon 1 VAR_028502 P00451:p.Trp274Cys SP substitution exon 1 VAR_028503 P00451:p.His275Leu SP substitution exon 1 VAR_028504 P00451:p.Glu284Lys SP substitution exon 1 VAR_028505 P00451:p.Glu291Lys SP substitution exon 1 VAR_028506 P00451:p.Phe295Leu SP substitution exon 1 VAR_028507 P00451:p.Val297Ala SP substitution exon 1 VAR_028508 P00451:p.Arg301Cys SP substitution exon 1 VAR_028510 P00451:p.Ala303Glu SP substitution exon 1 VAR_028511 P00451:p.Ala303Pro SP substitution exon 1 VAR_028512 P00451:p.Ile307Ser SP substitution exon 1 VAR_028513 P00451:p.Ala315Val SP substitution exon 1 VAR_028515 P00451:p.Leu326Pro SP substitution exon 1 VAR_028516 P00451:p.Leu327Val SP substitution exon 1 VAR_028517 P00451:p.Cys329Phe SP substitution exon 1 VAR_028518 P00451:p.Met339Thr SP substitution exon 1 VAR_028519 P00451:p.Glu340Lys SP substitution exon 1 VAR_028520 P00451:p.Val345Ala SP substitution exon 1 VAR_028521 P00451:p.Tyr365Cys SP substitution exon 1 VAR_028522 P00451:p.Trp401Gly SP substitution exon 1 VAR_028523 P00451:p.Ile405Phe SP substitution exon 1 VAR_028524 P00451:p.Trp412Gly SP substitution exon 1 VAR_028525 P00451:p.Trp412Arg SP substitution exon 1 VAR_028526 P00451:p.Lys427Ile SP substitution exon 1 VAR_028527 P00451:p.Leu431Ser SP substitution exon 1 VAR_028528 P00451:p.Arg437Pro SP substitution exon 1 VAR_028529 P00451:p.Arg437Trp SP substitution exon 1 VAR_028530 P00451:p.Ile438Phe SP substitution exon 1 VAR_028531 P00451:p.Gly439Asp SP substitution exon 1 VAR_028532 P00451:p.Tyr442Cys SP substitution exon 1 VAR_028533 P00451:p.Tyr450Asp SP substitution exon 1 VAR_028534 P00451:p.Thr454Ile SP substitution exon 1 VAR_028535 P00451:p.Phe455Cys SP substitution exon 1 VAR_028536 P00451:p.Gly466Glu SP substitution exon 1 VAR_028537 P00451:p.Pro470Leu SP substitution exon 1 VAR_028538 P00451:p.Pro470Arg SP substitution exon 1 VAR_028539 P00451:p.Pro470Thr SP substitution exon 1 VAR_028540 P00451:p.Gly474Glu SP substitution exon 1 VAR_028541 P00451:p.Glu475Lys SP substitution exon 1 VAR_028542 P00451:p.Gly477Val SP substitution exon 1 VAR_028543 P00451:p.Asp478Asn SP substitution exon 1 VAR_028544 P00451:p.Thr479Arg SP substitution exon 1 VAR_028545 P00451:p.Phe484Cys SP substitution exon 1 VAR_028546 P00451:p.Arg490Gly SP substitution exon 1 VAR_028547 P00451:p.Arg503His SP substitution exon 1 VAR_028548 P00451:p.Gly513Ser SP substitution exon 1 VAR_028549 P00451:p.Ile522Tyr SP substitution exon 1 VAR_028550 P00451:p.Trp532Gly SP substitution exon 1 VAR_028551 P00451:p.Pro540Thr SP substitution exon 1 VAR_028552 P00451:p.Thr541Ser SP substitution exon 1 VAR_028553 P00451:p.Ser553Pro SP substitution exon 1 VAR_028554 P00451:p.Ser554Cys SP substitution exon 1 VAR_028555 P00451:p.Arg560Thr SP substitution exon 1 VAR_028556 P00451:p.Asp561Gly SP substitution exon 1 VAR_028557 P00451:p.Asp561His SP substitution exon 1 VAR_028558 P00451:p.Val578Ala SP substitution exon 1 VAR_028559 P00451:p.Asp579Ala SP substitution exon 1 VAR_028560 P00451:p.Asp579His SP substitution exon 1 VAR_028561 P00451:p.Asn583Ser SP substitution exon 1 VAR_028562 P00451:p.Gln584His SP substitution exon 1 VAR_028563 P00451:p.Gln584Arg SP substitution exon 1 VAR_028564 P00451:p.Ile585Arg SP substitution exon 1 VAR_028565 P00451:p.Asp588Gly SP substitution exon 1 VAR_028566 P00451:p.Asp588Tyr SP substitution exon 1 VAR_028567 P00451:p.Leu594Gln SP substitution exon 1 VAR_028568 P00451:p.Asn601Asp SP substitution exon 1 VAR_028569 P00451:p.Asn601Lys SP substitution exon 1 VAR_028570 P00451:p.Arg602Gly SP substitution exon 1 VAR_028571 P00451:p.Ser603Arg SP substitution exon 1 VAR_028572 P00451:p.Tyr605His SP substitution exon 1 VAR_028573 P00451:p.Asn609Ile SP substitution exon 1 VAR_028574 P00451:p.Met633Ile SP substitution exon 1 VAR_028575 P00451:p.Ser635Asn SP substitution exon 1 VAR_028576 P00451:p.Asn637Asp SP substitution exon 1 VAR_028577 P00451:p.Asn637Ser SP substitution exon 1 VAR_028578 P00451:p.Tyr639Cys SP substitution exon 1 VAR_028579 P00451:p.Leu650Phe SP substitution exon 1 VAR_028580 P00451:p.Leu659Pro SP substitution exon 1 VAR_028581 P00451:p.Gln664Pro SP substitution exon 1 VAR_028582 P00451:p.Met681Ile SP substitution exon 1 VAR_028583 P00451:p.Val682Phe SP substitution exon 1 VAR_028584 P00451:p.Tyr683Cys SP substitution exon 1 VAR_028585 P00451:p.Tyr683Asn SP substitution exon 1 VAR_028586 P00451:p.Thr686Arg SP substitution exon 1 VAR_028587 P00451:p.Phe698Leu SP substitution exon 1 VAR_028588 P00451:p.Met699Thr SP substitution exon 1 VAR_028589 P00451:p.Met701Ile SP substitution exon 1 VAR_028590 P00451:p.Gly705Val SP substitution exon 1 VAR_028591 P00451:p.Gly710Trp SP substitution exon 1 VAR_028592 P00451:p.Asn713Ile SP substitution exon 1 VAR_028593 P00451:p.Arg717Leu SP substitution exon 1 VAR_028594 P00451:p.Gly720Ser SP substitution exon 1 VAR_028595 P00451:p.Met721Ile SP substitution exon 1 VAR_028596 P00451:p.Met721Leu SP substitution exon 1 VAR_028597 P00451:p.Leu725Gln SP substitution exon 1 VAR_028598 P00451:p.Tyr742Cys SP substitution exon 1 VAR_028599 P00451:p.Pro947Arg SP substitution exon 1 VAR_028600 P00451:p.Val1012Leu SP substitution exon 1 VAR_028601 P00451:p.His1066Tyr SP substitution exon 1 VAR_028602 P00451:p.Gln1336Lys SP substitution exon 1 VAR_028603 P00451:p.Asn1460Lys SP substitution exon 1 VAR_028604 P00451:p.Ala1610Ser SP substitution exon 1 VAR_028605 P00451:p.Ile1698Thr SP substitution exon 1 VAR_028606 P00451:p.Glu1701Lys SP substitution exon 1 VAR_028607 P00451:p.Gln1705His SP substitution exon 1 VAR_028608 P00451:p.Thr1714Ser SP substitution exon 1 VAR_028609 P00451:p.Asp1727Val SP substitution exon 1 VAR_028610 P00451:p.Arg1740Gly SP substitution exon 1 VAR_028611 P00451:p.Lys1751Gln SP substitution exon 1 VAR_028612 P00451:p.Arg1768His SP substitution exon 1 VAR_028613 P00451:p.Leu1771Pro SP substitution exon 1 VAR_028614 P00451:p.Leu1777Pro SP substitution exon 1 VAR_028615 P00451:p.Gly1779Arg SP substitution exon 1 VAR_028616 P00451:p.Pro1780Leu SP substitution exon 1 VAR_028617 P00451:p.Ile1782Arg SP substitution exon 1 VAR_028618 P00451:p.Asp1788His SP substitution exon 1 VAR_028619 P00451:p.Ala1798Pro SP substitution exon 1 VAR_028620 P00451:p.Ser1799His SP substitution exon 1 VAR_028621 P00451:p.Pro1801Ala SP substitution exon 1 VAR_028622 P00451:p.Tyr1802Cys SP substitution exon 1 VAR_028623 P00451:p.Glu1848Gly SP substitution exon 1 VAR_028624 P00451:p.Ser1858Cys SP substitution exon 1 VAR_028625 P00451:p.Lys1864Glu SP substitution exon 1 VAR_028626 P00451:p.His1867Pro SP substitution exon 1 VAR_028627 P00451:p.Gly1869Asp SP substitution exon 1 VAR_028628 P00451:p.Gly1872Glu SP substitution exon 1 VAR_028629 P00451:p.Leu1875Pro SP substitution exon 1 VAR_028630 P00451:p.Val1876Leu SP substitution exon 1 VAR_028631 P00451:p.Cys1877Arg SP substitution exon 1 VAR_028632 P00451:p.Leu1882Pro SP substitution exon 1 VAR_028633 P00451:p.Ile1901Phe SP substitution exon 1 VAR_028634 P00451:p.Glu1904Asp SP substitution exon 1 VAR_028635 P00451:p.Ser1907Cys SP substitution exon 1 VAR_028636 P00451:p.Ser1907Arg SP substitution exon 1 VAR_028637 P00451:p.Trp1908Leu SP substitution exon 1 VAR_028638 P00451:p.Tyr1909Cys SP substitution exon 1 VAR_028639 P00451:p.Ala1939Thr SP substitution exon 1 VAR_028640 P00451:p.Ala1939Val SP substitution exon 1 VAR_028641 P00451:p.Met1945Val SP substitution exon 1 VAR_028642 P00451:p.Leu1951Phe SP substitution exon 1 VAR_028643 P00451:p.Ser1965Ile SP substitution exon 1 VAR_028644 P00451:p.Met1966Ile SP substitution exon 1 VAR_028645 P00451:p.Met1966Val SP substitution exon 1 VAR_028646 P00451:p.Ser1968Arg SP substitution exon 1 VAR_028647 P00451:p.Asn1971Thr SP substitution exon 1 VAR_028648 P00451:p.His1973Leu SP substitution exon 1 VAR_028649 P00451:p.His1980Pro SP substitution exon 1 VAR_028650 P00451:p.Phe1982Ile SP substitution exon 1 VAR_028651 P00451:p.Arg1985Gln SP substitution exon 1 VAR_028652 P00451:p.Leu1994Pro SP substitution exon 1 VAR_028653 P00451:p.Tyr1998Cys SP substitution exon 1 VAR_028654 P00451:p.Gly2000Ala SP substitution exon 1 VAR_028655 P00451:p.Thr2004Arg SP substitution exon 1 VAR_028656 P00451:p.Met2007Ile SP substitution exon 1 VAR_028657 P00451:p.Trp2015Cys SP substitution exon 1 VAR_028658 P00451:p.Arg2016Pro SP substitution exon 1 VAR_028659 P00451:p.Glu2018Gly SP substitution exon 1 VAR_028660 P00451:p.Gly2022Asp SP substitution exon 1 VAR_028661 P00451:p.Gly2028Arg SP substitution exon 1 VAR_028662 P00451:p.Ser2030Asn SP substitution exon 1 VAR_028663 P00451:p.Val2035Ala SP substitution exon 1 VAR_028664 P00451:p.Cys2040Tyr SP substitution exon 1 VAR_028665 P00451:p.Gly2045Glu SP substitution exon 1 VAR_028666 P00451:p.Gly2045Val SP substitution exon 1 VAR_028667 P00451:p.Ile2056Asn SP substitution exon 1 VAR_028668 P00451:p.Ala2058Pro SP substitution exon 1 VAR_028669 P00451:p.Pro2067Leu SP substitution exon 1 VAR_028670 P00451:p.Ala2070Val SP substitution exon 1 VAR_028671 P00451:p.Ser2082Asn SP substitution exon 1 VAR_028672 P00451:p.Asp2093Tyr SP substitution exon 1 VAR_028673 P00451:p.Gln2106Glu SP substitution exon 1 VAR_028674 P00451:p.Gln2106Arg SP substitution exon 1 VAR_028675 P00451:p.Arg2109Cys SP substitution exon 1 VAR_028676 P00451:p.Ile2117Phe SP substitution exon 1 VAR_028677 P00451:p.Ile2117Ser SP substitution exon 1 VAR_028678 P00451:p.Gln2119Arg SP substitution exon 1 VAR_028679 P00451:p.Phe2120Cys SP substitution exon 1 VAR_028680 P00451:p.Phe2145Cys SP substitution exon 1 VAR_028681 P00451:p.Asn2157Asp SP substitution exon 1 VAR_028682 P00451:p.Pro2162Leu SP substitution exon 1 VAR_028683 P00451:p.Arg2169Cys SP substitution exon 1 VAR_028684 P00451:p.Thr2173Ala SP substitution exon 1 VAR_028685 P00451:p.His2174Asp SP substitution exon 1 VAR_028686 P00451:p.Arg2182Pro SP substitution exon 1 VAR_028687 P00451:p.Met2183Arg SP substitution exon 1 VAR_028688 P00451:p.Leu2185Trp SP substitution exon 1 VAR_028689 P00451:p.Ser2192Ile SP substitution exon 1 VAR_028690 P00451:p.Pro2196Arg SP substitution exon 1 VAR_028691 P00451:p.Gly2198Val SP substitution exon 1 VAR_028692 P00451:p.Glu2200Asp SP substitution exon 1 VAR_028693 P00451:p.Ala2220Pro SP substitution exon 1 VAR_028695 P00451:p.Pro2224Leu SP substitution exon 1 VAR_028696 P00451:p.Arg2228Pro SP substitution exon 1 VAR_028697 P00451:p.Leu2229Phe SP substitution exon 1 VAR_028698 P00451:p.Trp2248Ser SP substitution exon 1 VAR_028699 P00451:p.Val2251Ala SP substitution exon 1 VAR_028700 P00451:p.Val2251Glu SP substitution exon 1 VAR_028701 P00451:p.Thr2264Ala SP substitution exon 1 VAR_028702 P00451:p.Phe2279Cys SP substitution exon 1 VAR_028703 P00451:p.Phe2279Ile SP substitution exon 1 VAR_028704 P00451:p.Ile2281Thr SP substitution exon 1 VAR_028705 P00451:p.Trp2290Leu SP substitution exon 1 VAR_028706 P00451:p.Gly2304Val SP substitution exon 1 VAR_028707 P00451:p.Arg2323Gly SP substitution exon 1 VAR_028708 P00451:p.Arg2323Leu SP substitution exon 1 VAR_028709 P00451:p.Arg2326Gly SP substitution exon 1 VAR_028710 P00451:p.Arg2326Pro SP substitution exon 1 VAR_028711 P00451:p.Gln2330Pro SP substitution exon 1 VAR_028712 P00451:p.Trp2332Arg SP substitution exon 1 VAR_028713 P00451:p.Arg2339Thr SP substitution exon 1 VAR_028714 P00451:p.Gly2344Ser SP substitution exon 1 VAR_028715 P00451:p.Cys2345Ser SP substitution exon 1 VAR_028716 P00451:p.Cys2345Tyr SP substitution exon 1 VAR_028717 Q8N4N8:p.Ala112Val SP substitution exon 1 VAR_028718 Q8N4N8:p.Gly128Arg SP substitution exon 1 VAR_028719 Q8N4N8:p.Pro417Ser SP substitution exon 1 VAR_028720 Q8N4N8:p.Arg437Gly SP substitution exon 1 VAR_028721 P50225:p.Glu151Asp SP substitution exon 1 VAR_028722 Q96RK4:p.Glu268Lys SP substitution exon 1 VAR_028724 O43868:p.Gly509Glu SP substitution exon 1 VAR_028725 Q8WUA8:p.Arg208Cys SP substitution exon 1 VAR_028726 Q8WUA8:p.Ser248Asn SP substitution exon 1 VAR_028727 Q8WUA8:p.Val308Ile SP substitution exon 1 VAR_028728 P56645:p.Ala1007Thr SP substitution exon 1 VAR_028729 P56645:p.Thr1010Ile SP substitution exon 1 VAR_028731 Q6PJQ5:p.Val286Ala SP substitution exon 1 VAR_028735 Q16678:p.Gln68Arg SP substitution exon 1 VAR_028736 Q16678:p.Tyr81Asn SP substitution exon 1 VAR_028737 Q16678:p.Asp441His SP substitution exon 1 VAR_028738 Q16678:p.Asp449Glu SP substitution exon 1 VAR_028739 Q8N612:p.Thr491Met SP substitution exon 1 VAR_028740 Q8N612:p.Arg619Leu SP substitution exon 1 VAR_028741 Q8N612:p.Gln754His SP substitution exon 1 VAR_028742 Q6ICL3:p.Asp125Asn SP substitution exon 1 VAR_028743 Q6ICL3:p.Glu200Lys SP substitution exon 1 VAR_028744 Q6ICL3:p.Asp245Glu SP substitution exon 1 VAR_028745 Q63HM2:p.Gln770His SP substitution exon 1 VAR_028746 Q63HM2:p.Asp811Tyr SP substitution exon 1 VAR_028748 Q9Y666:p.Ala408Thr SP substitution exon 1 VAR_028749 Q9Y6D6:p.Asp273Tyr SP substitution exon 1 VAR_028750 Q9Y6D5:p.Ala527Val SP substitution exon 1 VAR_028751 Q9Y6N8:p.Ser413Phe SP substitution exon 1 VAR_028752 O43307:p.Gly55Ala SP substitution exon 1 VAR_028753 Q8WVV4:p.Pro207Ser SP substitution exon 1 VAR_028754 Q8WVV4:p.Cys239Ser SP substitution exon 1 VAR_028755 Q8WVV4:p.Glu296Ala SP substitution exon 1 VAR_028756 Q8WVV4:p.Met323Val SP substitution exon 1 VAR_028757 Q8WVV4:p.Arg329Gln SP substitution exon 1 VAR_028758 Q8WVV4:p.Met349Leu SP substitution exon 1 VAR_028759 Q8WVV4:p.Gln434Lys SP substitution exon 1 VAR_028760 Q8WVV4:p.Cys444Tyr SP substitution exon 1 VAR_028761 P14314:p.Ser74Asn SP substitution exon 1 VAR_028762 P14314:p.Ala291Thr SP substitution exon 1 VAR_028763 P13647:p.Ser79Arg SP substitution exon 1 VAR_028764 P13647:p.Asp197Glu SP substitution exon 1 VAR_028765 P13647:p.Ser232Asn SP substitution exon 1 VAR_028766 P13647:p.Ser387Thr SP substitution exon 1 VAR_028769 P16157:p.Leu733Ile SP substitution exon 1 VAR_028770 P16157:p.Ala1126Pro SP substitution exon 1 VAR_028771 P16157:p.Thr1192Pro SP substitution exon 1 VAR_028772 P16157:p.Met1325Val SP substitution exon 1 VAR_028773 P16157:p.Val1546Ile SP substitution exon 1 VAR_028777 Q5JWF2:p.Ala436Asp SP substitution exon 1 VAR_028779 Q5JWF2:p.Pro459Arg SP substitution exon 1 VAR_028780 O75841:p.Gln113Arg SP substitution exon 1 VAR_028783 O95229:p.Ala4Ser SP substitution exon 1 VAR_028784 O00187:p.His155Arg SP substitution exon 1 VAR_028785 O00187:p.Asp371Tyr SP substitution exon 1 VAR_028786 O00187:p.Val377Ala SP substitution exon 1 VAR_028787 O00187:p.Arg439His SP substitution exon 1 VAR_028788 O00481:p.Pro456Thr SP substitution exon 1 VAR_028789 O00241:p.Arg23Gly SP substitution exon 1 VAR_028790 O00241:p.Arg53His SP substitution exon 1 VAR_028791 O00241:p.Ile229Met SP substitution exon 1 VAR_028792 O00241:p.Ala363Pro SP substitution exon 1 VAR_028793 O00567:p.Ile121Val SP substitution exon 1 VAR_028795 O14522:p.Ala29Pro SP substitution exon 1 VAR_028796 O14522:p.Met76Val SP substitution exon 1 VAR_028797 O14523:p.Arg413Trp SP substitution exon 1 VAR_028798 O95201:p.Thr43Ala SP substitution exon 1 VAR_028799 O95201:p.Ala255Asp SP substitution exon 1 VAR_028800 Q5M775:p.Met293Leu SP substitution exon 1 VAR_028801 Q5VZT2:p.Asp110His SP substitution exon 1 VAR_028802 Q96FN9:p.Arg6Trp SP substitution exon 1 VAR_028808 O95567:p.Cys46Arg SP substitution exon 1 VAR_028809 O95567:p.Thr210Arg SP substitution exon 1 VAR_028810 O75409:p.Val68Ile SP substitution exon 1 VAR_028811 Q96DD7:p.Ile159Met SP substitution exon 1 VAR_028815 Q9BSE2:p.Val147Met SP substitution exon 1 VAR_028816 Q6NSI4:p.Ile593Met SP substitution exon 1 VAR_028817 Q86WZ0:p.Leu634His SP substitution exon 1 VAR_028818 Q86WZ0:p.Trp643Gly SP substitution exon 1 VAR_028819 Q86WZ0:p.Val660Ala SP substitution exon 1 VAR_028820 Q8N0U2:p.Glu40Lys SP substitution exon 1 VAR_028821 Q9NR99:p.Leu2531Val SP substitution exon 1 VAR_028822 Q6ICB4:p.Ala188Gly SP substitution exon 1 VAR_028823 Q8IWD4:p.Arg147Ser SP substitution exon 1 VAR_028825 Q709F0:p.Arg157His SP substitution exon 1 VAR_028826 Q709F0:p.Val362Leu SP substitution exon 1 VAR_028827 Q68CQ4:p.Gln67Glu SP substitution exon 1 VAR_028828 Q8TC71:p.Ser227Pro SP substitution exon 1 VAR_028829 Q8TC71:p.Lys483Arg SP substitution exon 1 VAR_028830 Q86TU7:p.Asn278Asp SP substitution exon 1 VAR_028831 Q8NE00:p.Val58Met SP substitution exon 1 VAR_028832 Q8NE00:p.Ala439Thr SP substitution exon 1 VAR_028835 Q8N816:p.Ile4Met SP substitution exon 1 VAR_028836 Q8N816:p.Tyr79His SP substitution exon 1 VAR_028837 Q8N816:p.Leu95Arg SP substitution exon 1 VAR_028838 Q9BTA9:p.Ser242Arg SP substitution exon 1 VAR_028840 Q5JPH6:p.Ser457Gly SP substitution exon 1 VAR_028841 Q96M34:p.Asn45Thr SP substitution exon 1 VAR_028842 Q96M34:p.Asp99Gly SP substitution exon 1 VAR_028843 Q96M34:p.Gln193His SP substitution exon 1 VAR_028844 Q96M34:p.Gly312Ser SP substitution exon 1 VAR_028845 Q96M34:p.Asp473Glu SP substitution exon 1 VAR_028846 Q6P1S2:p.Ala47Thr SP substitution exon 1 VAR_028847 Q6P1S2:p.Ser160Asn SP substitution exon 1 VAR_028848 Q9UGM6:p.Gly50Ser SP substitution exon 1 VAR_028849 Q96A26:p.Ala50Val SP substitution exon 1 VAR_028850 Q8IWY4:p.Gly398Arg SP substitution exon 1 VAR_028851 Q8IWY4:p.Ser648Pro SP substitution exon 1 VAR_028853 Q9Y3I0:p.Leu343Phe SP substitution exon 1 VAR_028854 Q7Z5Y7:p.Ser171Thr SP substitution exon 1 VAR_028855 Q8N7C7:p.Phe221Leu SP substitution exon 1 VAR_028856 Q8IYT3:p.Ala269Val SP substitution exon 1 VAR_028857 Q8IYT3:p.Phe324Ser SP substitution exon 1 VAR_028858 Q8IYT3:p.Ala331Thr SP substitution exon 1 VAR_028859 Q8IYT3:p.Val604Ile SP substitution exon 1 VAR_028860 Q8IYT3:p.Val683Ile SP substitution exon 1 VAR_028861 Q4G0Z9:p.Met137Lys SP substitution exon 1 VAR_028862 Q4G0Z9:p.Leu322Val SP substitution exon 1 VAR_028864 Q86X19:p.Gly26Ser SP substitution exon 1 VAR_028865 Q7Z6M4:p.Thr45Ala SP substitution exon 1 VAR_028866 Q7Z6M4:p.Met189Thr SP substitution exon 1 VAR_028867 Q7Z6M4:p.Leu339Val SP substitution exon 1 VAR_028868 Q7Z6M4:p.Asp347Glu SP substitution exon 1 VAR_028869 Q7Z6M4:p.Asp378Glu SP substitution exon 1 VAR_028875 Q6YHK3:p.Gly45Val SP substitution exon 1 VAR_028876 Q6YHK3:p.Tyr703Ser SP substitution exon 1 VAR_028877 Q6YHK3:p.Asn797Ser SP substitution exon 1 VAR_028878 Q6YHK3:p.Val845Ile SP substitution exon 1 VAR_028879 Q6YHK3:p.Thr1241Met SP substitution exon 1 VAR_028880 Q14244:p.Arg558Trp SP substitution exon 1 VAR_028881 Q9C0C6:p.Leu31Phe SP substitution exon 1 VAR_028883 Q9UBW5:p.Ser48Asn SP substitution exon 1 VAR_028885 Q8IXA5:p.Cys80Tyr SP substitution exon 1 VAR_028886 Q8IXA5:p.His100Arg SP substitution exon 1 VAR_028888 Q64LD2:p.Trp88Arg SP substitution exon 1 VAR_028889 Q64LD2:p.His149Arg SP substitution exon 1 VAR_028890 O60447:p.Ile336Val SP substitution exon 1 VAR_028891 O60447:p.Gln612His SP substitution exon 1 VAR_028892 Q6UXH1:p.Asp182Glu SP substitution exon 1 VAR_028893 Q6UXH1:p.Ser295Ala SP substitution exon 1 VAR_028894 Q6UXH1:p.Glu325Gly SP substitution exon 1 VAR_028895 Q8N442:p.Leu58Pro SP substitution exon 1 VAR_028896 Q8N442:p.Thr329Ile SP substitution exon 1 VAR_028897 Q96IZ5:p.His376Tyr SP substitution exon 1 VAR_028898 Q32P41:p.Ser217Pro SP substitution exon 1 VAR_028899 Q32P41:p.Leu255Pro SP substitution exon 1 VAR_028900 Q32P41:p.Glu294Ala SP substitution exon 1 VAR_028901 Q53EL6:p.Ile36Val SP substitution exon 1 VAR_028902 Q53EL6:p.Ser48Tyr SP substitution exon 1 VAR_028903 Q9Y6R7:p.Val1340Leu SP substitution exon 1 VAR_028904 Q9Y6R7:p.Gly1616Val SP substitution exon 1 VAR_028905 Q9Y6R7:p.Met1617Val SP substitution exon 1 VAR_028906 Q9Y6R7:p.Asn2089Asp SP substitution exon 1 VAR_028907 Q9Y6R7:p.Glu2646Asp SP substitution exon 1 VAR_028908 Q9Y6R7:p.Glu2647Lys SP substitution exon 1 VAR_028909 Q9Y6R7:p.Ala2793Val SP substitution exon 1 VAR_028910 Q9Y6R7:p.Val2814Ala SP substitution exon 1 VAR_028911 Q9Y6R7:p.Gly3264Ser SP substitution exon 1 VAR_028912 Q9Y6R7:p.His3920Gln SP substitution exon 1 VAR_028913 Q9Y6R7:p.Val4015Ala SP substitution exon 1 VAR_028914 Q9Y6R7:p.Gly4095Asp SP substitution exon 1 VAR_028915 Q9Y6R7:p.Gly4465Ser SP substitution exon 1 VAR_028916 Q9Y6R7:p.Asp4906His SP substitution exon 1 VAR_028917 Q6ZR62:p.Leu27Pro SP substitution exon 1 VAR_028918 Q6ZSY5:p.Phe351Ser SP substitution exon 1 VAR_028919 Q9P2K2:p.Glu486Lys SP substitution exon 1 VAR_028920 Q9H1M0:p.Ile177Thr SP substitution exon 1 VAR_028921 O60566:p.Arg36Gln SP substitution exon 1 VAR_028922 O60566:p.Glu390Asp SP substitution exon 1 VAR_028930 Q17RD7:p.Val10Ala SP substitution exon 1 VAR_028931 Q17RD7:p.Arg131Leu SP substitution exon 1 VAR_028932 P01037:p.Tyr4His SP substitution exon 1 VAR_028933 P01037:p.Pro31Leu SP substitution exon 1 VAR_028934 P01037:p.Asn129Asp SP substitution exon 1 VAR_028935 P01037:p.Arg131Met SP substitution exon 1 VAR_028936 P01037:p.Lys135Asn SP substitution exon 1 VAR_028937 P01042:p.Ile197Met SP substitution exon 1 VAR_028938 P07996:p.Thr523Ala SP substitution exon 1 VAR_028940 Q8IWU2:p.Pro30Ala SP substitution exon 1 VAR_028941 Q8IWU2:p.Leu780Met SP substitution exon 1 VAR_028942 Q8IWU2:p.Asp1061Asn SP substitution exon 1 VAR_028943 Q96Q04:p.Leu929Val SP substitution exon 1 VAR_028944 Q00266:p.Gln119His SP substitution exon 1 VAR_028945 Q7Z2K6:p.Ser44Asn SP substitution exon 1 VAR_028946 Q9NT68:p.Val1719Phe SP substitution exon 1 VAR_028947 Q86VP3:p.Thr185Ala SP substitution exon 1 VAR_028948 O75900:p.Phe91Leu SP substitution exon 1 VAR_028950 Q9BZ95:p.Arg383Pro SP substitution exon 1 VAR_028951 Q6ZUT3:p.Gly24Glu SP substitution exon 1 VAR_028952 Q6ZUT3:p.Gly24Arg SP substitution exon 1 VAR_028953 Q6ZUT3:p.Leu142Arg SP substitution exon 1 VAR_028954 Q6ZUT3:p.Asn221Asp SP substitution exon 1 VAR_028955 Q6ZUT3:p.Ala226Thr SP substitution exon 1 VAR_028956 Q6ZUT3:p.Leu231Val SP substitution exon 1 VAR_028957 Q6ZUT3:p.Ala266Pro SP substitution exon 1 VAR_028958 Q6ZUT3:p.Cys271Tyr SP substitution exon 1 VAR_028959 Q6ZUT3:p.Ser281Leu SP substitution exon 1 VAR_028960 Q6ZUT3:p.Tyr301Cys SP substitution exon 1 VAR_028961 Q6ZUT3:p.Ser340Leu SP substitution exon 1 VAR_028962 Q6ZUT3:p.Arg468His SP substitution exon 1 VAR_028963 Q9NVH2:p.His425Arg SP substitution exon 1 VAR_028964 Q6MZZ7:p.His249Tyr SP substitution exon 1 VAR_028965 Q6MZZ7:p.Ala280Thr SP substitution exon 1 VAR_028967 Q8N5U6:p.Leu332Phe SP substitution exon 1 VAR_028968 Q8N5U6:p.Glu433Asp SP substitution exon 1 VAR_028969 Q9UFD9:p.Arg1513Cys SP substitution exon 1 VAR_028970 Q8N8B7:p.Ser163Leu SP substitution exon 1 VAR_028971 Q9UHG2:p.Ala31Thr SP substitution exon 1 VAR_028972 Q99650:p.Gly210Trp SP substitution exon 1 VAR_028973 Q99650:p.Glu527Lys SP substitution exon 1 VAR_028974 Q99650:p.Asp553Asn SP substitution exon 1 VAR_028975 Q99650:p.Pro936Ser SP substitution exon 1 VAR_028976 Q9BV44:p.Arg459Gln SP substitution exon 1 VAR_028979 Q96IP4:p.Thr313Ala SP substitution exon 1 VAR_028980 Q8NEK8:p.Asp185Glu SP substitution exon 1 VAR_028981 Q12918:p.Ile168Thr SP substitution exon 1 VAR_028982 Q96QP1:p.Asn175Asp SP substitution exon 1 VAR_028983 Q96QP1:p.Gly565Asp SP substitution exon 1 VAR_028984 Q96QP1:p.His642Arg SP substitution exon 1 VAR_028985 Q96QP1:p.Met732Ile SP substitution exon 1 VAR_028986 Q96QP1:p.Met861Thr SP substitution exon 1 VAR_028987 Q96QP1:p.Gly870Ser SP substitution exon 1 VAR_028988 Q96QP1:p.Asn916Asp SP substitution exon 1 VAR_028989 Q96L96:p.Thr414Ser SP substitution exon 1 VAR_028990 Q96L96:p.Gly579Glu SP substitution exon 1 VAR_028991 Q96L96:p.Thr761Met SP substitution exon 1 VAR_028992 Q96L96:p.Pro1299Leu SP substitution exon 1 VAR_028993 Q96L96:p.Leu1622Pro SP substitution exon 1 VAR_028994 Q06330:p.Lys291Glu SP substitution exon 1 VAR_028995 Q06330:p.Asp334His SP substitution exon 1 VAR_028996 Q06330:p.Arg419Gln SP substitution exon 1 VAR_028997 Q06330:p.Pro425Ser SP substitution exon 1 VAR_028998 Q06330:p.Ala456Val SP substitution exon 1 VAR_028999 Q5M9Q1:p.Tyr96Cys SP substitution exon 1 VAR_029000 Q5M9Q1:p.Thr152Asn SP substitution exon 1 VAR_029001 Q5M9Q1:p.His162Tyr SP substitution exon 1 VAR_029002 Q5M9Q1:p.Glu398Gly SP substitution exon 1 VAR_029003 Q9Y4Z2:p.Arg93Leu SP substitution exon 1 VAR_029004 Q9Y4Z2:p.Arg107Ser SP substitution exon 1 VAR_029005 Q96C45:p.Ala542Thr SP substitution exon 1 VAR_029006 Q96C45:p.Lys569Arg SP substitution exon 1 VAR_029007 Q96C45:p.Leu603Ser SP substitution exon 1 VAR_029008 Q96C45:p.Ser640Ala SP substitution exon 1 VAR_029009 Q96C45:p.Ala715Thr SP substitution exon 1 VAR_029011 P02654:p.Thr71Ser SP substitution exon 1 VAR_029012 Q08462:p.Val147Leu SP substitution exon 1 VAR_029013 Q6ZRQ5:p.Asn419Asp SP substitution exon 1 VAR_029014 Q6ZRQ5:p.Thr564Met SP substitution exon 1 VAR_029015 Q6ZRQ5:p.Val875Ala SP substitution exon 1 VAR_029016 Q6ZRQ5:p.Pro1015Leu SP substitution exon 1 VAR_029017 P12724:p.Gly130Arg SP substitution exon 1 VAR_029018 Q9ULV5:p.Arg73His SP substitution exon 1 VAR_029019 P07476:p.Thr113Ala SP substitution exon 1 VAR_029020 P07476:p.Leu166Pro SP substitution exon 1 VAR_029021 P07476:p.Lys174Glu SP substitution exon 1 VAR_029022 P07476:p.Gln237Glu SP substitution exon 1 VAR_029023 P07476:p.Gln312Lys SP substitution exon 1 VAR_029024 P07476:p.Val480Leu SP substitution exon 1 VAR_029025 P10253:p.Leu208Pro SP substitution exon 1 VAR_029026 P10253:p.Arg224Trp SP substitution exon 1 VAR_029027 P10253:p.Ala237Val SP substitution exon 1 VAR_029028 P10253:p.Glu262Lys SP substitution exon 1 VAR_029029 P10253:p.Pro324Leu SP substitution exon 1 VAR_029030 P10253:p.Trp330Gly SP substitution exon 1 VAR_029031 P10253:p.Pro361Leu SP substitution exon 1 VAR_029032 P10253:p.Gly377Arg SP substitution exon 1 VAR_029033 P10253:p.Asp404Asn SP substitution exon 1 VAR_029034 P10253:p.Met408Val SP substitution exon 1 VAR_029035 P10253:p.Arg437Cys SP substitution exon 1 VAR_029036 P10253:p.Ala445Pro SP substitution exon 1 VAR_029037 P10253:p.Asp489Asn SP substitution exon 1 VAR_029038 P10253:p.His612Gln SP substitution exon 1 VAR_029039 P10253:p.Leu901Gln SP substitution exon 1 VAR_029040 P10253:p.Pro457Leu SP substitution exon 1 VAR_029041 P35240:p.Arg351His SP substitution exon 1 VAR_029042 Q9NXA8:p.Phe285Leu SP substitution exon 1 VAR_029043 O75128:p.Asp577Ala SP substitution exon 1 VAR_029044 O75128:p.Val607Ile SP substitution exon 1 VAR_029045 O75128:p.Asp927Asn SP substitution exon 1 VAR_029046 O75128:p.Ala1015Pro SP substitution exon 1 VAR_029047 Q9NUN5:p.Thr144Ala SP substitution exon 1 VAR_029048 Q9NUN5:p.Ile395Val SP substitution exon 1 VAR_029050 O60522:p.Arg192Gln SP substitution exon 1 VAR_029051 O60522:p.Thr398Ala SP substitution exon 1 VAR_029052 O60522:p.Gln1014Glu SP substitution exon 1 VAR_029055 P46013:p.Asn104Ser SP substitution exon 1 VAR_029056 P46013:p.Trp238Arg SP substitution exon 1 VAR_029057 P46013:p.Glu497Asp SP substitution exon 1 VAR_029058 P46013:p.Gln574Pro SP substitution exon 1 VAR_029059 P46013:p.Ala872Val SP substitution exon 1 VAR_029060 P46013:p.Thr1120Ser SP substitution exon 1 VAR_029061 P46013:p.Leu1470Trp SP substitution exon 1 VAR_029062 P46013:p.Val1559Met SP substitution exon 1 VAR_029063 P46013:p.Pro1622Leu SP substitution exon 1 VAR_029064 P46013:p.Thr1849Ala SP substitution exon 1 VAR_029065 P46013:p.Arg1876Gln SP substitution exon 1 VAR_029066 P46013:p.Ile2101Thr SP substitution exon 1 VAR_029075 P48730:p.Thr44Ala SP substitution exon 1 VAR_029076 O15516:p.Leu395Ile SP substitution exon 1 VAR_029077 O15516:p.His542Arg SP substitution exon 1 VAR_029078 Q99743:p.Thr394Ala SP substitution exon 1 VAR_029079 Q99743:p.Ser471Leu SP substitution exon 1 VAR_029080 O15055:p.Ser662Gly SP substitution exon 1 VAR_029081 P22674:p.Leu161Met SP substitution exon 1 VAR_029082 Q9H0R5:p.Val469Met SP substitution exon 1 VAR_029083 Q9H0R5:p.Cys491Arg SP substitution exon 1 VAR_029085 Q8WW24:p.Thr83Met SP substitution exon 1 VAR_029086 Q8WW24:p.Lys102Asn SP substitution exon 1 VAR_029087 Q8WW24:p.Asn409Lys SP substitution exon 1 VAR_029088 Q0VAK6:p.Ala560Val SP substitution exon 1 VAR_029089 Q7RTY7:p.Arg133Cys SP substitution exon 1 VAR_029090 Q7RTY7:p.Trp228Gly SP substitution exon 1 VAR_029091 Q7RTY7:p.Lys330Glu SP substitution exon 1 VAR_029092 Q7RTY7:p.Ile444Thr SP substitution exon 1 VAR_029093 Q7RTY7:p.Ser672Phe SP substitution exon 1 VAR_029094 Q7RTY7:p.Gly754Arg SP substitution exon 1 VAR_029095 Q7RTY7:p.Pro881Ala SP substitution exon 1 VAR_029096 Q7RTY7:p.Pro934Ser SP substitution exon 1 VAR_029104 O60809:p.Lys99Ile SP substitution exon 1 VAR_029105 O60809:p.His144Arg SP substitution exon 1 VAR_029106 O60809:p.Thr306Ala SP substitution exon 1 VAR_029107 O60809:p.Gly402Arg SP substitution exon 1 VAR_029108 P22607:p.Arg621His SP substitution exon 1 VAR_029109 P42702:p.His116Tyr SP substitution exon 1 VAR_029110 P42702:p.Asp578Asn SP substitution exon 1 VAR_029111 P42702:p.Val785Ile SP substitution exon 1 VAR_029113 Q92887:p.Met246Leu SP substitution exon 1 VAR_029115 Q92887:p.Lys495Glu SP substitution exon 1 VAR_029116 Q92887:p.Phe562Leu SP substitution exon 1 VAR_029117 Q92887:p.Ile982Val SP substitution exon 1 VAR_029118 Q92887:p.Asn1063Ser SP substitution exon 1 VAR_029119 O15438:p.Gly11Asp SP substitution exon 1 VAR_029120 O15438:p.Arg1286Gly SP substitution exon 1 VAR_029121 O15439:p.Pro78Ala SP substitution exon 1 VAR_029122 O15439:p.Pro403Leu SP substitution exon 1 VAR_029123 O15439:p.Gly487Glu SP substitution exon 1 VAR_029124 O15439:p.Ile625Met SP substitution exon 1 VAR_029125 O15439:p.Pro667Leu SP substitution exon 1 VAR_029126 O15439:p.Thr1142Met SP substitution exon 1 VAR_029129 Q02246:p.Pro366Leu SP substitution exon 1 VAR_029131 O60939:p.Arg28Trp SP substitution exon 1 VAR_029132 O60939:p.Arg47His SP substitution exon 1 VAR_029133 P12018:p.Ser122Leu SP substitution exon 1 VAR_029134 P12018:p.Glu132Lys SP substitution exon 1 VAR_029135 Q9UBU3:p.Gln90Leu SP substitution exon 1 VAR_029136 O95340:p.Glu10Lys SP substitution exon 1 VAR_029137 O95340:p.Met281Leu SP substitution exon 1 VAR_029138 O95340:p.Arg432Lys SP substitution exon 1 VAR_029139 P12821:p.Ala154Thr SP substitution exon 1 VAR_029140 P12821:p.Ala183Thr SP substitution exon 1 VAR_029141 P12821:p.Arg379Gln SP substitution exon 1 VAR_029142 P12821:p.Val524Ala SP substitution exon 1 VAR_029143 Q9BZ11:p.Thr178Ala SP substitution exon 1 VAR_029144 Q9BZ11:p.Pro774Ser SP substitution exon 1 VAR_029146 P17301:p.Asn691Lys SP substitution exon 1 VAR_029147 P13866:p.Asn51Ser SP substitution exon 1 VAR_029148 P13866:p.Ala411Thr SP substitution exon 1 VAR_029149 P54219:p.Phe82Cys SP substitution exon 1 VAR_029150 P54219:p.Gly140Arg SP substitution exon 1 VAR_029151 P54219:p.Ile202Thr SP substitution exon 1 VAR_029152 Q16572:p.Arg11Gln SP substitution exon 1 VAR_029153 P11802:p.Arg82Gln SP substitution exon 1 VAR_029154 O96017:p.Asp347Asn SP substitution exon 1 VAR_029156 Q12904:p.Thr104Ala SP substitution exon 1 VAR_029157 P23975:p.Asn7Lys SP substitution exon 1 VAR_029158 P31645:p.Lys201Asn SP substitution exon 1 VAR_029159 P51589:p.Arg49Ser SP substitution exon 1 VAR_029160 P51589:p.Val113Met SP substitution exon 1 VAR_029161 P20815:p.Ile371Val SP substitution exon 1 VAR_029162 P20815:p.Ile488Thr SP substitution exon 1 VAR_029163 Q9H211:p.Ala135Val SP substitution exon 1 VAR_029164 Q9H211:p.Arg172Cys SP substitution exon 1 VAR_029165 Q9H211:p.Glu456Ala SP substitution exon 1 VAR_029166 P01019:p.Glu98Lys SP substitution exon 1 VAR_029167 P01019:p.Met268Ile SP substitution exon 1 VAR_029168 Q92878:p.Val127Ile SP substitution exon 1 VAR_029169 Q92878:p.Arg193Trp SP substitution exon 1 VAR_029170 Q92878:p.Val842Ala SP substitution exon 1 VAR_029171 P00797:p.Gln160Lys SP substitution exon 1 VAR_029172 P24855:p.Arg107Gly SP substitution exon 1 VAR_029173 P24855:p.Cys231Tyr SP substitution exon 1 VAR_029174 P24855:p.Ala246Pro SP substitution exon 1 VAR_029175 P24855:p.Gly262Asp SP substitution exon 1 VAR_029176 Q05329:p.Pro153Gln SP substitution exon 1 VAR_029177 Q05329:p.Gly232Glu SP substitution exon 1 VAR_029178 Q05329:p.Gly326Ala SP substitution exon 1 VAR_029179 Q13323:p.Glu19Lys SP substitution exon 1 VAR_029180 Q13323:p.Leu148Pro SP substitution exon 1 VAR_029181 Q07954:p.Val2059Leu SP substitution exon 1 VAR_029182 P98164:p.Asp1279Ala SP substitution exon 1 VAR_029183 P98164:p.Arg2012Lys SP substitution exon 1 VAR_029184 P98164:p.Asn2632Asp SP substitution exon 1 VAR_029185 P22455:p.Val10Ile SP substitution exon 1 VAR_029186 Q08828:p.Pro456Leu SP substitution exon 1 VAR_029187 Q08828:p.Ala940Thr SP substitution exon 1 VAR_029188 P40145:p.Ala80Thr SP substitution exon 1 VAR_029189 P14778:p.Thr344Met SP substitution exon 1 VAR_029190 P23946:p.Arg98His SP substitution exon 1 VAR_029191 P00748:p.Pro342Gln SP substitution exon 1 VAR_029192 Q9Y258:p.Leu18Arg SP substitution exon 1 VAR_029193 Q9UBZ9:p.Asn306Asp SP substitution exon 1 VAR_029194 Q9UBZ9:p.Met656Val SP substitution exon 1 VAR_029195 Q9UBZ9:p.Leu660Trp SP substitution exon 1 VAR_029196 Q9UBZ9:p.Asp700Asn SP substitution exon 1 VAR_029197 Q9UBZ9:p.Arg704Gln SP substitution exon 1 VAR_029198 Q9UBZ9:p.Pro902Ser SP substitution exon 1 VAR_029199 Q9UBZ9:p.Pro902His SP substitution exon 1 VAR_029200 Q9UBZ9:p.Ser921Ile SP substitution exon 1 VAR_029201 Q9UBZ9:p.Pro1060Thr SP substitution exon 1 VAR_029202 Q9UBZ9:p.Asn1074Lys SP substitution exon 1 VAR_029203 Q9UBZ9:p.Asn1091Thr SP substitution exon 1 VAR_029204 Q9UBZ9:p.Leu1102Pro SP substitution exon 1 VAR_029205 P13945:p.Glu249Lys SP substitution exon 1 VAR_029206 P30556:p.Ala163Thr SP substitution exon 1 VAR_029207 P30556:p.Ala244Ser SP substitution exon 1 VAR_029208 P51686:p.Ile92Val SP substitution exon 1 VAR_029209 P34972:p.His316Tyr SP substitution exon 1 VAR_029210 P21918:p.Cys62Ser SP substitution exon 1 VAR_029211 P21918:p.Gly110Glu SP substitution exon 1 VAR_029212 P21918:p.Phe207Val SP substitution exon 1 VAR_029213 P21918:p.Ser233Asn SP substitution exon 1 VAR_029214 P21918:p.Arg247His SP substitution exon 1 VAR_029215 P21918:p.Ala286Val SP substitution exon 1 VAR_029216 P34995:p.Thr223Met SP substitution exon 1 VAR_029217 P34995:p.His256Arg SP substitution exon 1 VAR_029218 P43115:p.Asn366Ser SP substitution exon 1 VAR_029219 P32745:p.Ala33Val SP substitution exon 1 VAR_029220 P32745:p.Arg336Cys SP substitution exon 1 VAR_029221 P32745:p.Arg414His SP substitution exon 1 VAR_029222 P35346:p.Gly37Arg SP substitution exon 1 VAR_029223 P35346:p.Leu48Met SP substitution exon 1 VAR_029224 P35346:p.Ala52Val SP substitution exon 1 VAR_029225 P35346:p.Pro109Ser SP substitution exon 1 VAR_029226 P35346:p.Thr333Met SP substitution exon 1 VAR_029227 P01566:p.Gly42Ala SP substitution exon 1 VAR_029229 Q01970:p.Arg483His SP substitution exon 1 VAR_029230 Q92820:p.Ala31Thr SP substitution exon 1 VAR_029231 Q92820:p.Thr151Ile SP substitution exon 1 VAR_029232 P42684:p.Lys930Arg SP substitution exon 1 VAR_029233 P42684:p.Val946Met SP substitution exon 1 VAR_029234 P42684:p.Pro996Arg SP substitution exon 1 VAR_029235 P42684:p.Ser1085Asn SP substitution exon 1 VAR_029236 P42684:p.Thr1101Ala SP substitution exon 1 VAR_029238 Q04912:p.Ser434Leu SP substitution exon 1 VAR_029239 Q04912:p.Asn440Ser SP substitution exon 1 VAR_029240 P46060:p.Glu133Gln SP substitution exon 1 VAR_029241 P17844:p.Ser480Ala SP substitution exon 1 VAR_029242 P55212:p.Glu35Lys SP substitution exon 1 VAR_029243 P33993:p.Arg114Gln SP substitution exon 1 VAR_029244 P52701:p.Pro623Ala SP substitution exon 1 VAR_029245 P11388:p.Thr1324Lys SP substitution exon 1 VAR_029246 Q9Y5K1:p.Arg211Trp SP substitution exon 1 VAR_029247 Q9BZW2:p.Phe42Leu SP substitution exon 1 VAR_029248 Q9BZW2:p.Val44Ile SP substitution exon 1 VAR_029249 Q9BZW2:p.Gln157Glu SP substitution exon 1 VAR_029250 Q9BZW2:p.Tyr205Cys SP substitution exon 1 VAR_029251 Q9BZW2:p.Arg277His SP substitution exon 1 VAR_029252 Q9BZW2:p.Val332Ala SP substitution exon 1 VAR_029253 Q9BZW2:p.Ile392Thr SP substitution exon 1 VAR_029254 Q13183:p.Leu44Phe SP substitution exon 1 VAR_029255 Q13183:p.Phe254Leu SP substitution exon 1 VAR_029256 Q13183:p.Ala310Pro SP substitution exon 1 VAR_029257 Q13183:p.Val477Met SP substitution exon 1 VAR_029259 P18848:p.Pro258Ala SP substitution exon 1 VAR_029260 P15918:p.Ser169Leu SP substitution exon 1 VAR_029261 P15918:p.Arg247His SP substitution exon 1 VAR_029262 P15918:p.Arg449Lys SP substitution exon 1 VAR_029263 P15918:p.Pro525Ser SP substitution exon 1 VAR_029264 P15918:p.Asp887Asn SP substitution exon 1 VAR_029265 Q14527:p.Arg819His SP substitution exon 1 VAR_029266 P05231:p.Asp162Glu SP substitution exon 1 VAR_029267 O00303:p.Pro39Leu SP substitution exon 1 VAR_029268 P22735:p.Asp132Asn SP substitution exon 1 VAR_029269 P78417:p.Ser86Cys SP substitution exon 1 VAR_029270 P33076:p.Leu45Val SP substitution exon 1 VAR_029271 O43520:p.His78Gln SP substitution exon 1 VAR_029272 O43520:p.Ile577Val SP substitution exon 1 VAR_029273 O43520:p.Arg952Gln SP substitution exon 1 VAR_029274 Q14746:p.Asn304Lys SP substitution exon 1 VAR_029275 Q9UL17:p.Ile339Val SP substitution exon 1 VAR_029276 P47712:p.Gly103Arg SP substitution exon 1 VAR_029278 Q06787:p.Ala145Ser SP substitution exon 1 VAR_029279 Q00341:p.Trp1264Leu SP substitution exon 1 VAR_029280 P02787:p.Ser55Arg SP substitution exon 1 VAR_029281 P06703:p.Gly90Asp SP substitution exon 1 VAR_029282 O75326:p.Ser115Thr SP substitution exon 1 VAR_029283 Q9Y5N6:p.Arg32Trp SP substitution exon 1 VAR_029284 Q9Y5N6:p.Pro138Gln SP substitution exon 1 VAR_029286 P49748:p.Leu17Phe SP substitution exon 1 VAR_029287 Q8N726:p.Pro17Ser SP substitution exon 1 VAR_029288 P13686:p.Val221Ile SP substitution exon 1 VAR_029289 Q14542:p.Asp5Tyr SP substitution exon 1 VAR_029290 Q14542:p.Asn68Lys SP substitution exon 1 VAR_029291 Q14542:p.Pro94Leu SP substitution exon 1 VAR_029292 P47887:p.Cys27Arg SP substitution exon 1 VAR_029294 O43543:p.Ile221Thr SP substitution exon 1 VAR_029295 O43542:p.Gly271Arg SP substitution exon 1 VAR_029296 O43542:p.Arg302His SP substitution exon 1 VAR_029298 P78345:p.Ile212Thr SP substitution exon 1 VAR_029299 Q9NP59:p.Pro443Leu SP substitution exon 1 VAR_029302 Q12894:p.Arg502Gln SP substitution exon 1 VAR_029303 Q9UBV2:p.Asp162Gly SP substitution exon 1 VAR_029304 P16520:p.Leu280Phe SP substitution exon 1 VAR_029306 O95243:p.Cys61Arg SP substitution exon 1 VAR_029307 P35070:p.Cys7Gly SP substitution exon 1 VAR_029308 P35070:p.Leu124Met SP substitution exon 1 VAR_029309 P11473:p.Leu230Val SP substitution exon 1 VAR_029310 P11473:p.Thr362Ile SP substitution exon 1 VAR_029312 O00295:p.Ala18Thr SP substitution exon 1 VAR_029313 O95399:p.Ser74Asn SP substitution exon 1 VAR_029314 P01189:p.Pro132Ala SP substitution exon 1 VAR_029315 O76082:p.Tyr449Asp SP substitution exon 1 VAR_029316 O76082:p.Phe508Leu SP substitution exon 1 VAR_029317 O76082:p.Met530Val SP substitution exon 1 VAR_029318 P78549:p.Ser234Leu SP substitution exon 1 VAR_029319 P21580:p.Ala766Pro SP substitution exon 1 VAR_029320 P09603:p.Gly438Arg SP substitution exon 1 VAR_029321 P46059:p.Val21Ile SP substitution exon 1 VAR_029322 P46059:p.Phe28Tyr SP substitution exon 1 VAR_029323 P46059:p.Ser117Arg SP substitution exon 1 VAR_029324 P46059:p.Pro537Ser SP substitution exon 1 VAR_029325 P23025:p.Val234Leu SP substitution exon 1 VAR_029326 P01024:p.Ser1619Arg SP substitution exon 1 VAR_029328 O00507:p.Pro1035Ser SP substitution exon 1 VAR_029329 P42785:p.Thr444Ser SP substitution exon 1 VAR_029330 P18146:p.Asn144Lys SP substitution exon 1 VAR_029331 P18146:p.Ser145Arg SP substitution exon 1 VAR_029332 P18146:p.Glu219Asp SP substitution exon 1 VAR_029333 P48546:p.Arg136Trp SP substitution exon 1 VAR_029334 Q9Y6J6:p.Phe60Leu SP substitution exon 1 VAR_029335 O95528:p.Ala206Thr SP substitution exon 1 VAR_029336 P22695:p.Arg148Ser SP substitution exon 1 VAR_029337 P30038:p.Val470Ile SP substitution exon 1 VAR_029338 O15431:p.Pro25Ala SP substitution exon 1 VAR_029339 P51606:p.Gln169Arg SP substitution exon 1 VAR_029340 Q99567:p.Asn289Ser SP substitution exon 1 VAR_029351 P11086:p.Asn9Ser SP substitution exon 1 VAR_029352 P49917:p.Ala3Val SP substitution exon 1 VAR_029353 P49917:p.Asp62His SP substitution exon 1 VAR_029354 P32243:p.Arg89Gly SP substitution exon 1 VAR_029355 P32243:p.Pro133Thr SP substitution exon 1 VAR_029356 P32243:p.Pro134Ala SP substitution exon 1 VAR_029357 P58304:p.Arg227Trp SP substitution exon 1 VAR_029358 Q9NVS9:p.Glu50Lys SP substitution exon 1 VAR_029359 Q9NVS9:p.Arg116Gln SP substitution exon 1 VAR_029361 Q04721:p.Cys444Tyr SP substitution exon 1 VAR_029362 P07339:p.Phe229Ile SP substitution exon 1 VAR_029363 P07339:p.Trp383Cys SP substitution exon 1 VAR_029365 Q14126:p.Arg46Gln SP substitution exon 1 VAR_029366 Q14126:p.Arg49His SP substitution exon 1 VAR_029367 Q14126:p.Cys507Tyr SP substitution exon 1 VAR_029368 Q14126:p.Gly812Cys SP substitution exon 1 VAR_029369 O75444:p.Arg288Pro SP substitution exon 1 VAR_029370 O75444:p.Lys297Arg SP substitution exon 1 VAR_029371 O60733:p.Val310Glu SP substitution exon 1 VAR_029372 O60733:p.Lys545Thr SP substitution exon 1 VAR_029373 O60733:p.Arg632Trp SP substitution exon 1 VAR_029375 P57796:p.Arg124Cys SP substitution exon 1 VAR_029376 O60840:p.Asn746Thr SP substitution exon 1 VAR_029377 Q01804:p.Ala194Gly SP substitution exon 1 VAR_029378 Q53T94:p.Ala6Ser SP substitution exon 1 VAR_029379 Q53T94:p.Val282Ile SP substitution exon 1 VAR_029380 Q53T94:p.Thr351Ala SP substitution exon 1 VAR_029384 Q9H9S0:p.Lys82Asn SP substitution exon 1 VAR_029385 Q8N0S2:p.Glu132Asp SP substitution exon 1 VAR_029386 Q8N0S2:p.Lys183Arg SP substitution exon 1 VAR_029387 Q8N0S2:p.Pro317Ala SP substitution exon 1 VAR_029388 Q96RU3:p.Ser490Asn SP substitution exon 1 VAR_029389 Q9H1H9:p.Met1415Val SP substitution exon 1 VAR_029430 P12883:p.Asp3Ala SP substitution exon 1 VAR_029431 P12883:p.Arg143Trp SP substitution exon 1 VAR_029432 P12883:p.Val411Ile SP substitution exon 1 VAR_029433 P12883:p.Ala430Glu SP substitution exon 1 VAR_029434 P12883:p.Glu466Gln SP substitution exon 1 VAR_029435 P12883:p.Leu517Met SP substitution exon 1 VAR_029436 P12883:p.Gly584Ser SP substitution exon 1 VAR_029437 P12883:p.Arg694His SP substitution exon 1 VAR_029438 P12883:p.Gln734Glu SP substitution exon 1 VAR_029439 P12883:p.Ile736Thr SP substitution exon 1 VAR_029440 P12883:p.Leu796Phe SP substitution exon 1 VAR_029441 P12883:p.Val824Ile SP substitution exon 1 VAR_029442 P12883:p.Cys905Phe SP substitution exon 1 VAR_029443 P12883:p.Glu924Gln SP substitution exon 1 VAR_029444 P12883:p.Asp928Asn SP substitution exon 1 VAR_029445 O15273:p.Leu74His SP substitution exon 1 VAR_029446 O15273:p.Glu132Gln SP substitution exon 1 VAR_029447 O15273:p.Thr137Ile SP substitution exon 1 VAR_029448 O15273:p.Arg153His SP substitution exon 1 VAR_029449 P10916:p.Gly57Arg SP substitution exon 1 VAR_029452 P09493:p.Glu180Val SP substitution exon 1 VAR_029453 P19429:p.Arg79Cys SP substitution exon 1 VAR_029454 P19429:p.Ser166Phe SP substitution exon 1 VAR_029455 Q8NC42:p.Ser9Gly SP substitution exon 1 VAR_029456 Q8NC42:p.Leu344Phe SP substitution exon 1 VAR_029457 Q8NC42:p.Asp356Glu SP substitution exon 1 VAR_029458 Q96PX1:p.Pro80His SP substitution exon 1 VAR_029459 Q96PX1:p.Gly208Arg SP substitution exon 1 VAR_029460 Q9NXI6:p.Ala23Thr SP substitution exon 1 VAR_029461 Q8NA82:p.Gly241Glu SP substitution exon 1 VAR_029462 Q8NA82:p.Phe319Ser SP substitution exon 1 VAR_029463 Q8NA82:p.Glu742Lys SP substitution exon 1 VAR_029464 Q8IYT1:p.Asn22Asp SP substitution exon 1 VAR_029465 Q8IYT1:p.Asn253Ser SP substitution exon 1 VAR_029466 Q8IYT1:p.Gly319Asp SP substitution exon 1 VAR_029467 Q8IYT1:p.Asn551Asp SP substitution exon 1 VAR_029468 Q8IYT1:p.Thr577Met SP substitution exon 1 VAR_029469 Q96BN8:p.Ser227Asn SP substitution exon 1 VAR_029470 Q5T653:p.Ser300Phe SP substitution exon 1 VAR_029472 Q96DV4:p.Asp371His SP substitution exon 1 VAR_029473 Q96GC5:p.Glu6Gly SP substitution exon 1 VAR_029474 Q8N5N7:p.Leu127Phe SP substitution exon 1 VAR_029475 Q96EL3:p.Ala4Ser SP substitution exon 1 VAR_029476 Q63ZY6:p.Trp47Ser SP substitution exon 1 VAR_029477 Q63ZY6:p.Ala90Val SP substitution exon 1 VAR_029480 Q02487:p.Asn11Ser SP substitution exon 1 VAR_029481 P36897:p.Lys232Glu SP substitution exon 1 VAR_029482 P36897:p.Ser241Leu SP substitution exon 1 VAR_029483 P36897:p.Asn267His SP substitution exon 1 VAR_029492 P21695:p.Ile54Val SP substitution exon 1 VAR_029493 P21695:p.Ala113Pro SP substitution exon 1 VAR_029494 Q9UPN9:p.Val67Ala SP substitution exon 1 VAR_029495 Q5H8A3:p.Pro6Ser SP substitution exon 1 VAR_029496 Q6UX15:p.Glu66Lys SP substitution exon 1 VAR_029499 O76024:p.Tyr110Asn SP substitution exon 1 VAR_029500 O76024:p.Ala326Val SP substitution exon 1 VAR_029502 O76024:p.Arg457Ser SP substitution exon 1 VAR_029505 O76024:p.Arg629Trp SP substitution exon 1 VAR_029509 Q96FV2:p.Lys103Arg SP substitution exon 1 VAR_029510 Q96FV2:p.Met323Val SP substitution exon 1 VAR_029511 Q96FV2:p.Ser411Gly SP substitution exon 1 VAR_029513 Q9BYV1:p.Val498Leu SP substitution exon 1 VAR_029514 Q13740:p.Gly229Asp SP substitution exon 1 VAR_029515 Q13740:p.Leu315Met SP substitution exon 1 VAR_029516 Q13740:p.Val352Met SP substitution exon 1 VAR_029517 P07316:p.Arg90Thr SP substitution exon 1 VAR_029518 O95704:p.Gly165Arg SP substitution exon 1 VAR_029519 Q03426:p.His20Gln SP substitution exon 1 VAR_029520 Q03426:p.Val132Ile SP substitution exon 1 VAR_029521 Q03426:p.Gly171Arg SP substitution exon 1 VAR_029528 P53673:p.Leu69Pro SP substitution exon 1 VAR_029529 P53673:p.Phe94Ser SP substitution exon 1 VAR_029530 Q14003:p.Arg420His SP substitution exon 1 VAR_029531 Q14003:p.Phe448Leu SP substitution exon 1 VAR_029532 Q9UBF9:p.Ser39Phe SP substitution exon 1 VAR_029533 Q9UBF9:p.Lys74Gln SP substitution exon 1 VAR_029534 Q92838:p.Arg65Gly SP substitution exon 1 VAR_029535 O95528:p.Ser81Arg SP substitution exon 1 VAR_029536 O95528:p.Ala106Ser SP substitution exon 1 VAR_029537 O95528:p.Ile537Val SP substitution exon 1 VAR_029538 Q5JSH3:p.Ala289Thr SP substitution exon 1 VAR_029539 Q5JSH3:p.Thr296Ala SP substitution exon 1 VAR_029540 P56539:p.Pro29Leu SP substitution exon 1 VAR_029541 P56539:p.Ser53Gly SP substitution exon 1 VAR_029542 P56539:p.Gly56Ser SP substitution exon 1 VAR_029543 P56539:p.Thr64Ser SP substitution exon 1 VAR_029545 P56539:p.Arg126His SP substitution exon 1 VAR_029546 Q14687:p.Val936Ala SP substitution exon 1 VAR_029548 Q709C8:p.Arg153His SP substitution exon 1 VAR_029549 Q709C8:p.Arg974Lys SP substitution exon 1 VAR_029550 Q709C8:p.Ile1132Val SP substitution exon 1 VAR_029551 Q709C8:p.Tyr1302Cys SP substitution exon 1 VAR_029552 Q709C8:p.Thr1485Ala SP substitution exon 1 VAR_029553 Q709C8:p.Ile1495Val SP substitution exon 1 VAR_029554 Q709C8:p.Ser1592Tyr SP substitution exon 1 VAR_029555 Q709C8:p.Val2322Met SP substitution exon 1 VAR_029556 Q709C8:p.Ser2913Asn SP substitution exon 1 VAR_029557 Q5THJ4:p.Ala225Thr SP substitution exon 1 VAR_029558 Q5THJ4:p.Ser1341Leu SP substitution exon 1 VAR_029559 Q5THJ4:p.Glu1505Val SP substitution exon 1 VAR_029560 Q5THJ4:p.Ser1707Phe SP substitution exon 1 VAR_029561 Q86WU2:p.Arg233Lys SP substitution exon 1 VAR_029563 O43272:p.Ala167Val SP substitution exon 1 VAR_029564 O43272:p.Arg185Gln SP substitution exon 1 VAR_029565 O43272:p.Arg185Trp SP substitution exon 1 VAR_029566 O43272:p.Leu289Met SP substitution exon 1 VAR_029567 O43272:p.Pro406Leu SP substitution exon 1 VAR_029568 O43272:p.Asp426Asn SP substitution exon 1 VAR_029569 O43272:p.Val427Met SP substitution exon 1 VAR_029570 O43272:p.Arg431His SP substitution exon 1 VAR_029571 O43272:p.Leu441Pro SP substitution exon 1 VAR_029572 O43272:p.Arg453Cys SP substitution exon 1 VAR_029573 O43272:p.Ala455Ser SP substitution exon 1 VAR_029574 O43272:p.Thr466Met SP substitution exon 1 VAR_029575 O43272:p.Ala472Thr SP substitution exon 1 VAR_029578 Q6ZMW2:p.Arg130Pro SP substitution exon 1 VAR_029579 Q6ZMW2:p.Arg165His SP substitution exon 1 VAR_029581 Q8WZ69:p.Phe100Ser SP substitution exon 1 VAR_029583 Q8N8D7:p.Val140Ile SP substitution exon 1 VAR_029584 Q8NBR9:p.Pro22Thr SP substitution exon 1 VAR_029585 Q5TAA0:p.Leu14Val SP substitution exon 1 VAR_029586 Q7Z3H4:p.Glu220Asp SP substitution exon 1 VAR_029587 Q96A22:p.Thr23Arg SP substitution exon 1 VAR_029589 Q8IXB3:p.His3Tyr SP substitution exon 1 VAR_029590 Q8IXB3:p.Pro15Ser SP substitution exon 1 VAR_029591 Q8IXB3:p.Ala18Thr SP substitution exon 1 VAR_029592 Q8IXB3:p.Phe20Ser SP substitution exon 1 VAR_029593 Q8IXB3:p.Glu34Asp SP substitution exon 1 VAR_029594 Q8IXB3:p.Ser57Gly SP substitution exon 1 VAR_029595 Q8N9M5:p.Ala110Val SP substitution exon 1 VAR_029596 Q6NX45:p.Pro65Leu SP substitution exon 1 VAR_029597 Q6NX45:p.Asn83Ser SP substitution exon 1 VAR_029598 Q6NX45:p.Val147Ile SP substitution exon 1 VAR_029602 Q96B70:p.His153Arg SP substitution exon 1 VAR_029603 Q96B70:p.Arg499Pro SP substitution exon 1 VAR_029604 Q68DY9:p.Cys182Trp SP substitution exon 1 VAR_029605 Q68DY9:p.Met218Leu SP substitution exon 1 VAR_029606 Q6ZTY8:p.Gly387Ser SP substitution exon 1 VAR_029607 Q6ZTY8:p.Leu593Pro SP substitution exon 1 VAR_029608 Q6ZTY8:p.Glu666Lys SP substitution exon 1 VAR_029609 Q6ZTY8:p.Glu710Lys SP substitution exon 1 VAR_029610 Q6ZTY8:p.Val783Ala SP substitution exon 1 VAR_029611 Q6ZTY8:p.Ser790Asn SP substitution exon 1 VAR_029612 Q6ZTY8:p.Pro1107His SP substitution exon 1 VAR_029614 Q8NHR7:p.Pro31Arg SP substitution exon 1 VAR_029615 Q8N6G2:p.Lys231Asn SP substitution exon 1 VAR_029616 Q9BRQ3:p.Gly36Cys SP substitution exon 1 VAR_029617 Q9BRQ3:p.Gln260Arg SP substitution exon 1 VAR_029618 Q9BRQ3:p.Leu263Pro SP substitution exon 1 VAR_029619 Q96LS8:p.Pro90Leu SP substitution exon 1 VAR_029620 Q8IXY8:p.His110Arg SP substitution exon 1 VAR_029621 Q5JX71:p.Val66Ala SP substitution exon 1 VAR_029622 Q5JX71:p.Met117Lys SP substitution exon 1 VAR_029623 Q5JX71:p.Arg135Gly SP substitution exon 1 VAR_029624 Q5JX71:p.Arg146Lys SP substitution exon 1 VAR_029625 Q8NCL9:p.Cys30Arg SP substitution exon 1 VAR_029626 Q8NCL9:p.Tyr80His SP substitution exon 1 VAR_029627 Q8NCL9:p.Arg261Cys SP substitution exon 1 VAR_029628 Q96MU5:p.Arg47Ser SP substitution exon 1 VAR_029629 Q6UVW9:p.Gly136Asp SP substitution exon 1 VAR_029630 Q1HG43:p.Ser313Gly SP substitution exon 1 VAR_029631 Q8WWF8:p.Arg85Gln SP substitution exon 1 VAR_029632 Q8WWF8:p.Met201Val SP substitution exon 1 VAR_029633 Q8NFL0:p.Val233Ile SP substitution exon 1 VAR_029635 Q96F25:p.Val14Met SP substitution exon 1 VAR_029636 Q0JRZ9:p.Met371Val SP substitution exon 1 VAR_029637 Q5JRV8:p.Pro345Gln SP substitution exon 1 VAR_029638 Q8NEG0:p.Arg30Gly SP substitution exon 1 VAR_029639 Q8NEG0:p.Met71Val SP substitution exon 1 VAR_029640 Q8IVL1:p.Arg109Lys SP substitution exon 1 VAR_029641 Q8IVL1:p.Gln491His SP substitution exon 1 VAR_029642 Q8IVL1:p.Glu1041Asp SP substitution exon 1 VAR_029643 Q8IVL1:p.Pro1077Ala SP substitution exon 1 VAR_029648 Q9P0U3:p.Ile193Val SP substitution exon 1 VAR_029649 Q9P0U3:p.Asp350Gly SP substitution exon 1 VAR_029650 Q9HC62:p.Thr301Lys SP substitution exon 1 VAR_029651 Q9BQF6:p.Lys79Gln SP substitution exon 1 VAR_029652 Q9BQF6:p.Gln612His SP substitution exon 1 VAR_029653 Q9GZR1:p.Thr121Met SP substitution exon 1 VAR_029656 P04275:p.Asp1472His SP substitution exon 1 VAR_029657 P78386:p.Arg78His SP substitution exon 1 VAR_029658 Q9H694:p.Gly8Asp SP substitution exon 1 VAR_029659 P24347:p.Phe182Ser SP substitution exon 1 VAR_029660 P35498:p.Glu78Asp SP substitution exon 1 VAR_029661 P35498:p.Arg101Gln SP substitution exon 1 VAR_029662 P35498:p.Ser103Gly SP substitution exon 1 VAR_029663 P35498:p.Thr112Ile SP substitution exon 1 VAR_029664 P35498:p.Gly177Glu SP substitution exon 1 VAR_029665 P35498:p.Trp190Arg SP substitution exon 1 VAR_029666 P35498:p.Ile227Ser SP substitution exon 1 VAR_029667 P35498:p.Ile252Asn SP substitution exon 1 VAR_029668 P35498:p.Gly265Trp SP substitution exon 1 VAR_029669 P35498:p.Trp280Arg SP substitution exon 1 VAR_029670 P35498:p.Thr297Ile SP substitution exon 1 VAR_029671 P35498:p.Gly343Asp SP substitution exon 1 VAR_029672 P35498:p.Arg393His SP substitution exon 1 VAR_029673 P35498:p.Tyr426Asn SP substitution exon 1 VAR_029674 P35498:p.Arg542Gln SP substitution exon 1 VAR_029675 P35498:p.Tyr790Cys SP substitution exon 1 VAR_029676 P35498:p.Thr808Ser SP substitution exon 1 VAR_029677 P35498:p.Phe902Cys SP substitution exon 1 VAR_029678 P35498:p.Arg931Cys SP substitution exon 1 VAR_029679 P35498:p.Met934Ile SP substitution exon 1 VAR_029680 P35498:p.His939Gln SP substitution exon 1 VAR_029681 P35498:p.Val944Ala SP substitution exon 1 VAR_029682 P35498:p.Arg946Cys SP substitution exon 1 VAR_029683 P35498:p.Arg946His SP substitution exon 1 VAR_029684 P35498:p.Cys959Arg SP substitution exon 1 VAR_029685 P35498:p.Met960Val SP substitution exon 1 VAR_029686 P35498:p.Gly979Arg SP substitution exon 1 VAR_029687 P35498:p.Val983Ala SP substitution exon 1 VAR_029688 P35498:p.Asn985Ile SP substitution exon 1 VAR_029689 P35498:p.Asn1011Ile SP substitution exon 1 VAR_029690 P35498:p.Ile1034Thr SP substitution exon 1 VAR_029691 P35498:p.Phe1038Leu SP substitution exon 1 VAR_029692 P35498:p.Ser1231Arg SP substitution exon 1 VAR_029693 P35498:p.Gly1233Arg SP substitution exon 1 VAR_029694 P35498:p.Phe1263Leu SP substitution exon 1 VAR_029695 P35498:p.Leu1265Pro SP substitution exon 1 VAR_029697 P35498:p.Leu1355Pro SP substitution exon 1 VAR_029698 P35498:p.Ala1326Pro SP substitution exon 1 VAR_029699 P35498:p.Val1390Met SP substitution exon 1 VAR_029700 P35498:p.Val1428Ala SP substitution exon 1 VAR_029701 P35498:p.Trp1434Arg SP substitution exon 1 VAR_029702 P35498:p.Gln1450Arg SP substitution exon 1 VAR_029703 P35498:p.Leu1461Ile SP substitution exon 1 VAR_029704 P35498:p.Phe1463Ser SP substitution exon 1 VAR_029706 P35498:p.Val1611Phe SP substitution exon 1 VAR_029707 P35498:p.Pro1632Ser SP substitution exon 1 VAR_029708 P35498:p.Arg1648Cys SP substitution exon 1 VAR_029709 P35498:p.Arg1657Cys SP substitution exon 1 VAR_029710 P35498:p.Phe1661Ser SP substitution exon 1 VAR_029711 P35498:p.Pro1668Ala SP substitution exon 1 VAR_029712 P35498:p.Gly1674Arg SP substitution exon 1 VAR_029713 P35498:p.Tyr1694Cys SP substitution exon 1 VAR_029714 P35498:p.Ala1685Asp SP substitution exon 1 VAR_029715 P35498:p.Ala1685Val SP substitution exon 1 VAR_029716 P35498:p.Phe1692Ser SP substitution exon 1 VAR_029717 P35498:p.Thr1709Ile SP substitution exon 1 VAR_029718 P35498:p.Gly1749Glu SP substitution exon 1 VAR_029720 P35498:p.Met1780Thr SP substitution exon 1 VAR_029721 P35498:p.Tyr1781Cys SP substitution exon 1 VAR_029723 P35498:p.Phe1808Leu SP substitution exon 1 VAR_029724 P35498:p.Trp1812Gly SP substitution exon 1 VAR_029726 P35498:p.Phe1831Ser SP substitution exon 1 VAR_029727 P35498:p.Met1852Thr SP substitution exon 1 VAR_029728 P35498:p.Glu1881Asp SP substitution exon 1 VAR_029729 P35498:p.Thr1909Ile SP substitution exon 1 VAR_029730 P35498:p.Ile1955Thr SP substitution exon 1 VAR_029731 P35498:p.Glu1957Gly SP substitution exon 1 VAR_029732 Q99250:p.Arg19Lys SP substitution exon 1 VAR_029733 Q99250:p.Arg188Trp SP substitution exon 1 VAR_029734 Q99250:p.Arg223Gln SP substitution exon 1 VAR_029735 Q99250:p.Phe385Tyr SP substitution exon 1 VAR_029736 Q99250:p.Arg524Gln SP substitution exon 1 VAR_029737 Q99250:p.Val892Ile SP substitution exon 1 VAR_029738 Q99250:p.Leu1003Ile SP substitution exon 1 VAR_029739 Q99250:p.Arg1319Gln SP substitution exon 1 VAR_029740 Q99250:p.Leu1330Phe SP substitution exon 1 VAR_029741 Q99250:p.Leu1563Val SP substitution exon 1 VAR_029742 Q99250:p.Arg1902Thr SP substitution exon 1 VAR_029746 P49683:p.Asp302Gly SP substitution exon 1 VAR_029747 Q9BXC9:p.Ala122Val SP substitution exon 1 VAR_029748 Q9BXC9:p.Ala504Val SP substitution exon 1 VAR_029749 Q9NP58:p.Arg648Gln SP substitution exon 1 VAR_029750 Q99720:p.Gln2Pro SP substitution exon 1 VAR_029752 Q5VWK5:p.Gln3His SP substitution exon 1 VAR_029753 Q5VWK5:p.Leu310Pro SP substitution exon 1 VAR_029755 Q96KX1:p.Ser36Tyr SP substitution exon 1 VAR_029759 Q9BVC5:p.Gly185Asp SP substitution exon 1 VAR_029762 P01189:p.Pro62Leu SP substitution exon 1 VAR_029763 Q9UJ70:p.Trp38Arg SP substitution exon 1 VAR_029764 Q9UJ70:p.Ala60Val SP substitution exon 1 VAR_029765 P49792:p.Val548Leu SP substitution exon 1 VAR_029766 P49792:p.Glu580Lys SP substitution exon 1 VAR_029767 P49792:p.Cys581Tyr SP substitution exon 1 VAR_029768 P49792:p.Pro1870Leu SP substitution exon 1 VAR_029769 O75558:p.Arg49Gln SP substitution exon 1 VAR_029770 O75558:p.Thr277Ala SP substitution exon 1 VAR_029771 Q70J99:p.His858Gln SP substitution exon 1 VAR_029772 Q70J99:p.Lys867Glu SP substitution exon 1 VAR_029773 P14222:p.Val135Met SP substitution exon 1 VAR_029774 Q9UHM6:p.Pro10Leu SP substitution exon 1 VAR_029775 Q9UHM6:p.Gly444Asp SP substitution exon 1 VAR_029776 Q8NE35:p.Arg324Trp SP substitution exon 1 VAR_029777 Q09428:p.Leu104Val SP substitution exon 1 VAR_029778 Q09428:p.Phe132Leu SP substitution exon 1 VAR_029779 Q09428:p.Leu213Arg SP substitution exon 1 VAR_029780 Q09428:p.Cys435Arg SP substitution exon 1 VAR_029781 Q09428:p.Leu582Val SP substitution exon 1 VAR_029782 Q09428:p.His1023Tyr SP substitution exon 1 VAR_029783 Q09428:p.Arg1182Gln SP substitution exon 1 VAR_029784 Q09428:p.Arg1352His SP substitution exon 1 VAR_029785 Q09428:p.Arg1379Cys SP substitution exon 1 VAR_029787 Q09428:p.Ile1424Val SP substitution exon 1 VAR_029788 Q8TEC5:p.Arg267Cys SP substitution exon 1 VAR_029789 Q8TEC5:p.Trp592Arg SP substitution exon 1 VAR_029790 Q8TEC5:p.Val687Ile SP substitution exon 1 VAR_029791 Q8TEC5:p.Gly710Ala SP substitution exon 1 VAR_029792 P01024:p.Gln1521Arg SP substitution exon 1 VAR_029793 P01024:p.His1601Asn SP substitution exon 1 VAR_029794 Q08431:p.Arg3Ser SP substitution exon 1 VAR_029795 Q13127:p.Val626Ile SP substitution exon 1 VAR_029796 Q13127:p.Glu692Asp SP substitution exon 1 VAR_029797 Q13127:p.Lys762Gln SP substitution exon 1 VAR_029799 Q9ULB4:p.Tyr6Cys SP substitution exon 1 VAR_029800 Q9ULB4:p.Ala38Val SP substitution exon 1 VAR_029801 Q9H300:p.Ala137Gly SP substitution exon 1 VAR_029802 Q9NZK5:p.His335Arg SP substitution exon 1 VAR_029803 O95359:p.Ile2078Thr SP substitution exon 1 VAR_029804 O95359:p.Ala2210Val SP substitution exon 1 VAR_029805 O95359:p.Gln2900Lys SP substitution exon 1 VAR_029806 Q14590:p.His296Pro SP substitution exon 1 VAR_029811 Q86WV1:p.Gly161Ser SP substitution exon 1 VAR_029814 Q9NRX1:p.Arg11Gly SP substitution exon 1 VAR_029815 Q9NRX1:p.Gly71Ala SP substitution exon 1 VAR_029816 Q8IZ57:p.Ile41Val SP substitution exon 1 VAR_029817 Q5VZ19:p.Arg181Gln SP substitution exon 1 VAR_029818 Q5VZ19:p.Val215Ile SP substitution exon 1 VAR_029822 Q8WV22:p.Thr38Arg SP substitution exon 1 VAR_029823 Q8WV22:p.Asn47Ser SP substitution exon 1 VAR_029824 Q8IY18:p.Val306Ile SP substitution exon 1 VAR_029825 Q8IY18:p.Cys308Arg SP substitution exon 1 VAR_029826 Q96SB8:p.Ala691Thr SP substitution exon 1 VAR_029827 Q96SB8:p.Ile1046Met SP substitution exon 1 VAR_029828 Q9BTP7:p.Ser158Leu SP substitution exon 1 VAR_029829 Q9BTP7:p.Ile192Thr SP substitution exon 1 VAR_029830 Q96HP0:p.Pro250Leu SP substitution exon 1 VAR_029831 Q96HP0:p.Pro555Leu SP substitution exon 1 VAR_029832 Q96HP0:p.Gly665Arg SP substitution exon 1 VAR_029833 Q96HP0:p.Val1420Leu SP substitution exon 1 VAR_029834 Q5T6F2:p.Asn606Ser SP substitution exon 1 VAR_029835 Q5T6F2:p.Ala756Val SP substitution exon 1 VAR_029836 Q68DY1:p.Asn31Asp SP substitution exon 1 VAR_029837 Q68DY1:p.Asn68His SP substitution exon 1 VAR_029838 Q9BR77:p.Ser25Arg SP substitution exon 1 VAR_029839 Q9BR77:p.Met335Thr SP substitution exon 1 VAR_029840 Q5T749:p.Gln14His SP substitution exon 1 VAR_029841 Q5T749:p.Val37Ala SP substitution exon 1 VAR_029842 Q5T749:p.Cys113Arg SP substitution exon 1 VAR_029843 Q5T749:p.Arg168His SP substitution exon 1 VAR_029844 Q5T749:p.Cys413Ser SP substitution exon 1 VAR_029845 Q5T749:p.Pro532Thr SP substitution exon 1 VAR_029846 Q96GE5:p.Gly44Val SP substitution exon 1 VAR_029847 Q96GE5:p.Cys593Arg SP substitution exon 1 VAR_029848 Q86UT8:p.Trp244Gly SP substitution exon 1 VAR_029852 Q6RUI8:p.Val7Ile SP substitution exon 1 VAR_029853 Q6RUI8:p.Arg84Cys SP substitution exon 1 VAR_029854 Q6RUI8:p.Gly104Glu SP substitution exon 1 VAR_029856 Q8NAE3:p.Phe96Val SP substitution exon 1 VAR_029857 Q96LI9:p.Arg24Cys SP substitution exon 1 VAR_029858 Q96LI9:p.Arg187His SP substitution exon 1 VAR_029859 Q5VVY1:p.Ser150Pro SP substitution exon 1 VAR_029861 Q9H3M9:p.Leu266Phe SP substitution exon 1 VAR_029862 Q9H3M9:p.Gly332Asp SP substitution exon 1 VAR_029863 Q86WV6:p.Arg71His SP substitution exon 1 VAR_029864 Q86WV6:p.His232Arg SP substitution exon 1 VAR_029865 Q86WV6:p.Arg293Gln SP substitution exon 1 VAR_029866 Q96B21:p.Thr59Ile SP substitution exon 1 VAR_029867 P51854:p.Leu24Phe SP substitution exon 1 VAR_029868 P51854:p.Ile152Thr SP substitution exon 1 VAR_029869 Q13428:p.Ala665Pro SP substitution exon 1 VAR_029870 Q15468:p.Ala86Val SP substitution exon 1 VAR_029871 Q15468:p.His984Arg SP substitution exon 1 VAR_029872 Q15468:p.Pro1012Arg SP substitution exon 1 VAR_029873 Q8WWF3:p.Arg88Trp SP substitution exon 1 VAR_029874 O43272:p.Thr275Asn SP substitution exon 1 VAR_029875 O43272:p.Gly444Asp SP substitution exon 1 VAR_029876 O95140:p.Arg94Trp SP substitution exon 1 VAR_029877 O95140:p.Thr206Ile SP substitution exon 1 VAR_029878 O95140:p.Gln276Arg SP substitution exon 1 VAR_029879 O95140:p.His361Tyr SP substitution exon 1 VAR_029880 O95140:p.Arg364Trp SP substitution exon 1 VAR_029883 Q9P212:p.Ser1484Leu SP substitution exon 1 VAR_029884 P21802:p.Ala628Thr SP substitution exon 1 VAR_029885 P21802:p.Ala648Thr SP substitution exon 1 VAR_029887 P22607:p.Asp513Asn SP substitution exon 1 VAR_029888 O15520:p.Cys106Phe SP substitution exon 1 VAR_029889 O15520:p.Ile156Arg SP substitution exon 1 VAR_029890 O14733:p.Leu259Phe SP substitution exon 1 VAR_029891 P30837:p.Thr202Ile SP substitution exon 1 VAR_029892 P30837:p.Val253Met SP substitution exon 1 VAR_029893 Q96A59:p.Glu60Lys SP substitution exon 1 VAR_029895 P08034:p.Thr8Ile SP substitution exon 1 VAR_029896 P08034:p.Leu9Trp SP substitution exon 1 VAR_029898 P08034:p.Trp24Cys SP substitution exon 1 VAR_029899 P08034:p.Leu25Pro SP substitution exon 1 VAR_029900 P08034:p.Ser26Trp SP substitution exon 1 VAR_029901 P08034:p.Ile28Asn SP substitution exon 1 VAR_029902 P08034:p.Ile30Thr SP substitution exon 1 VAR_029903 P08034:p.Met34Ile SP substitution exon 1 VAR_029904 P08034:p.Met34Lys SP substitution exon 1 VAR_029905 P08034:p.Val37Met SP substitution exon 1 VAR_029906 P08034:p.Ala40Thr SP substitution exon 1 VAR_029907 P08034:p.Ser49Pro SP substitution exon 1 VAR_029908 P08034:p.Thr55Ala SP substitution exon 1 VAR_029909 P08034:p.Thr55Arg SP substitution exon 1 VAR_029910 P08034:p.Gln57His SP substitution exon 1 VAR_029911 P08034:p.Gly59Arg SP substitution exon 1 VAR_029912 P08034:p.Cys64Phe SP substitution exon 1 VAR_029913 P08034:p.Phe69Leu SP substitution exon 1 VAR_029914 P08034:p.Pro70Ala SP substitution exon 1 VAR_029915 P08034:p.Leu90Val SP substitution exon 1 VAR_029916 P08034:p.Val91Met SP substitution exon 1 VAR_029917 P08034:p.His94Asp SP substitution exon 1 VAR_029919 P08034:p.Lys104Thr SP substitution exon 1 VAR_029920 P08034:p.Leu108Pro SP substitution exon 1 VAR_029922 P08034:p.Val125Asp SP substitution exon 1 VAR_029923 P08034:p.His126Tyr SP substitution exon 1 VAR_029924 P08034:p.Ile127Met SP substitution exon 1 VAR_029925 P08034:p.Ile127Ser SP substitution exon 1 VAR_029926 P08034:p.Thr130Ile SP substitution exon 1 VAR_029927 P08034:p.Leu131Pro SP substitution exon 1 VAR_029928 P08034:p.Ser138Asn SP substitution exon 1 VAR_029929 P08034:p.Arg142Gln SP substitution exon 1 VAR_029930 P08034:p.Glu146Lys SP substitution exon 1 VAR_029931 P08034:p.Ala147Asp SP substitution exon 1 VAR_029932 P08034:p.Phe149Val SP substitution exon 1 VAR_029933 P08034:p.Tyr151Ser SP substitution exon 1 VAR_029934 P08034:p.Phe153Ser SP substitution exon 1 VAR_029935 P08034:p.Gly159Asp SP substitution exon 1 VAR_029936 P08034:p.Cys168Tyr SP substitution exon 1 VAR_029937 P08034:p.Pro172Ala SP substitution exon 1 VAR_029938 P08034:p.Pro172Arg SP substitution exon 1 VAR_029939 P08034:p.Val177Ala SP substitution exon 1 VAR_029940 P08034:p.Val177Glu SP substitution exon 1 VAR_029941 P08034:p.Phe180Ser SP substitution exon 1 VAR_029942 P08034:p.Val181Ala SP substitution exon 1 VAR_029943 P08034:p.Pro184Leu SP substitution exon 1 VAR_029944 P08034:p.Thr191Ala SP substitution exon 1 VAR_029945 P08034:p.Val192Phe SP substitution exon 1 VAR_029946 P08034:p.Phe193Leu SP substitution exon 1 VAR_029947 P08034:p.Cys201Tyr SP substitution exon 1 VAR_029948 P08034:p.Leu204Val SP substitution exon 1 VAR_029949 P08034:p.Asn205Ile SP substitution exon 1 VAR_029950 P08034:p.Glu208Gly SP substitution exon 1 VAR_029952 P08034:p.Tyr211His SP substitution exon 1 VAR_029953 P08034:p.Ile213Val SP substitution exon 1 VAR_029954 P08034:p.Arg215Gln SP substitution exon 1 VAR_029955 P08034:p.Leu239Ile SP substitution exon 1 VAR_029956 P08034:p.Arg264Cys SP substitution exon 1 VAR_029957 P08034:p.Cys280Gly SP substitution exon 1 VAR_029958 P11161:p.Arg381Cys SP substitution exon 1 VAR_029959 P11161:p.Asp383Tyr SP substitution exon 1 VAR_029960 Q01453:p.Ser22Phe SP substitution exon 1 VAR_029961 Q01453:p.Thr23Arg SP substitution exon 1 VAR_029963 Q01453:p.Trp28Arg SP substitution exon 1 VAR_029964 Q01453:p.Val65Phe SP substitution exon 1 VAR_029965 Q01453:p.Ala67Thr SP substitution exon 1 VAR_029966 Q01453:p.Leu71Pro SP substitution exon 1 VAR_029967 Q01453:p.Leu80Arg SP substitution exon 1 VAR_029968 Q01453:p.Cys109Arg SP substitution exon 1 VAR_029970 Q01453:p.Ser149Arg SP substitution exon 1 VAR_029971 P25189:p.Ser51Phe SP substitution exon 1 VAR_029972 P25189:p.Asp60His SP substitution exon 1 VAR_029973 P25189:p.Ile62Met SP substitution exon 1 VAR_029974 P25189:p.Thr65Ile SP substitution exon 1 VAR_029975 P25189:p.Glu97Val SP substitution exon 1 VAR_029976 P25189:p.Gly110Asp SP substitution exon 1 VAR_029977 P25189:p.Val113Ile SP substitution exon 1 VAR_029978 P25189:p.Thr124Lys SP substitution exon 1 VAR_029979 P25189:p.Asp134Gly SP substitution exon 1 VAR_029980 P25189:p.Lys138Asn SP substitution exon 1 VAR_029981 P25189:p.Thr139Asn SP substitution exon 1 VAR_029982 P25189:p.Ser140Thr SP substitution exon 1 VAR_029983 P25189:p.Tyr145Ser SP substitution exon 1 VAR_029984 P25189:p.Val146Phe SP substitution exon 1 VAR_029985 P25189:p.Leu170Arg SP substitution exon 1 VAR_029989 O60477:p.Ser347Arg SP substitution exon 1 VAR_029990 O60477:p.Arg358His SP substitution exon 1 VAR_029991 Q5T9L3:p.Val465Ile SP substitution exon 1 VAR_029992 Q7Z695:p.Ser307Pro SP substitution exon 1 VAR_029993 Q7Z695:p.Val418Met SP substitution exon 1 VAR_029994 Q7Z695:p.Pro622Leu SP substitution exon 1 VAR_029995 Q96D53:p.His174Arg SP substitution exon 1 VAR_029996 Q3MIX3:p.Arg17Ser SP substitution exon 1 VAR_029997 P01185:p.Cys58Phe SP substitution exon 1 VAR_029998 P01185:p.Cys98Ser SP substitution exon 1 VAR_029999 P01185:p.Ala99Pro SP substitution exon 1 VAR_030000 Q9UJT1:p.Met76Thr SP substitution exon 1 VAR_030001 Q9UHI8:p.Ala227Pro SP substitution exon 1 VAR_030002 Q9UI33:p.Gly481Glu SP substitution exon 1 VAR_030003 Q9UI33:p.Met777Arg SP substitution exon 1 VAR_030004 Q9UI33:p.Tyr1198His SP substitution exon 1 VAR_030005 Q9UH90:p.Val87Ala SP substitution exon 1 VAR_030006 Q9NYU1:p.Ala323Thr SP substitution exon 1 VAR_030007 Q9NYU1:p.Ser328Ala SP substitution exon 1 VAR_030008 Q9NYU1:p.Met994Leu SP substitution exon 1 VAR_030009 Q9NYW0:p.Thr156Met SP substitution exon 1 VAR_030010 Q9NZE8:p.Pro19Ser SP substitution exon 1 VAR_030011 Q9NZT2:p.Ser577Thr SP substitution exon 1 VAR_030012 Q9P2G9:p.Pro520Arg SP substitution exon 1 VAR_030013 P02452:p.Gly1019Ala SP substitution exon 1 VAR_030014 P02452:p.Ser1251Thr SP substitution exon 1 VAR_030015 P02452:p.Gln1391Lys SP substitution exon 1 VAR_030016 P02452:p.Pro1438Arg SP substitution exon 1 VAR_030017 P02452:p.Pro1460His SP substitution exon 1 VAR_030018 Q9P0L2:p.Arg645Gly SP substitution exon 1 VAR_030019 Q05066:p.Ser3Leu SP substitution exon 1 VAR_030020 Q9Y6H8:p.Leu11Ser SP substitution exon 1 VAR_030021 Q9Y6H8:p.Phe32Leu SP substitution exon 1 VAR_030022 Q9Y6H8:p.Pro59Leu SP substitution exon 1 VAR_030023 Q9Y6H8:p.Arg76His SP substitution exon 1 VAR_030024 Q13495:p.Pro359Ser SP substitution exon 1 VAR_030025 Q13495:p.Gln580Arg SP substitution exon 1 VAR_030026 P60709:p.Arg183Trp SP substitution exon 1 VAR_030027 P02462:p.Val7Leu SP substitution exon 1 VAR_030028 P02462:p.Gly562Glu SP substitution exon 1 VAR_030029 P02462:p.Gly749Ser SP substitution exon 1 VAR_030030 P02462:p.Gly1130Asp SP substitution exon 1 VAR_030031 P02462:p.Gly1236Arg SP substitution exon 1 VAR_030032 P02462:p.Gly1423Arg SP substitution exon 1 VAR_030033 O14543:p.His125Tyr SP substitution exon 1 VAR_030034 Q6UX27:p.Ser163Gly SP substitution exon 1 VAR_030035 P05107:p.Gln354His SP substitution exon 1 VAR_030036 Q8NG06:p.Trp3Ser SP substitution exon 1 VAR_030037 Q8NG06:p.Val322Ile SP substitution exon 1 VAR_030038 Q8NG06:p.Thr374Met SP substitution exon 1 VAR_030039 P05141:p.Leu111Arg SP substitution exon 1 VAR_030040 O75952:p.Thr74Met SP substitution exon 1 VAR_030042 Q8IY51:p.Ile439Val SP substitution exon 1 VAR_030044 Q17RP2:p.Arg59Trp SP substitution exon 1 VAR_030045 Q17RP2:p.Gln327Arg SP substitution exon 1 VAR_030046 O14896:p.Arg6Cys SP substitution exon 1 VAR_030047 O14896:p.Ala16Val SP substitution exon 1 VAR_030048 O14896:p.Leu22Pro SP substitution exon 1 VAR_030049 O14896:p.Arg45Gln SP substitution exon 1 VAR_030050 O14896:p.Thr64Ile SP substitution exon 1 VAR_030051 O14896:p.Arg84Gly SP substitution exon 1 VAR_030052 O14896:p.Thr100Ala SP substitution exon 1 VAR_030053 O14896:p.Leu251Pro SP substitution exon 1 VAR_030054 O14896:p.Glu349Val SP substitution exon 1 VAR_030057 Q9NP59:p.Tyr64Asn SP substitution exon 1 VAR_030058 Q9NP59:p.Gly80Ser SP substitution exon 1 VAR_030059 Q9NP59:p.Gly80Val SP substitution exon 1 VAR_030060 Q9NP59:p.Asn144Asp SP substitution exon 1 VAR_030061 Q9NP59:p.Asn144Thr SP substitution exon 1 VAR_030062 Q9NP59:p.Asn174Ile SP substitution exon 1 VAR_030063 Q9NP59:p.Asp181Val SP substitution exon 1 VAR_030064 Q9NP59:p.Gly267Asp SP substitution exon 1 VAR_030065 Q9NP59:p.Asp270Val SP substitution exon 1 VAR_030066 Q9NP59:p.Cys326Tyr SP substitution exon 1 VAR_030067 Q9NP59:p.Gly490Asp SP substitution exon 1 VAR_030068 Q6ZWT7:p.Thr501Ala SP substitution exon 1 VAR_030069 Q96T53:p.Gly231Glu SP substitution exon 1 VAR_030070 O75592:p.Val2588Met SP substitution exon 1 VAR_030071 Q969Z0:p.Ala22Ser SP substitution exon 1 VAR_030072 Q969Z0:p.Pro57Leu SP substitution exon 1 VAR_030073 Q6NXG1:p.Tyr196Cys SP substitution exon 1 VAR_030074 Q9H6T0:p.Ser111Leu SP substitution exon 1 VAR_030075 Q9H6T0:p.Ala528Val SP substitution exon 1 VAR_030076 Q9Y2R9:p.Ala2Val SP substitution exon 1 VAR_030077 Q96EL2:p.Trp97Arg SP substitution exon 1 VAR_030078 Q7Z7H8:p.Val125Ile SP substitution exon 1 VAR_030079 Q4U2R6:p.Met102Ile SP substitution exon 1 VAR_030080 Q86TS9:p.Gly5Val SP substitution exon 1 VAR_030081 Q86TS9:p.Val19Ala SP substitution exon 1 VAR_030082 Q7Z7F7:p.Arg24Cys SP substitution exon 1 VAR_030083 Q68CP4:p.Pro311Leu SP substitution exon 1 VAR_030084 Q68CP4:p.Arg372Cys SP substitution exon 1 VAR_030085 Q68CP4:p.Gly452Ser SP substitution exon 1 VAR_030086 Q68CP4:p.Glu499Lys SP substitution exon 1 VAR_030087 Q68CP4:p.Met510Lys SP substitution exon 1 VAR_030088 Q68CP4:p.Ser569Leu SP substitution exon 1 VAR_030089 Q68CP4:p.Asp590Val SP substitution exon 1 VAR_030090 Q68CP4:p.Pro599Leu SP substitution exon 1 VAR_030091 Q96BD8:p.Val91Ile SP substitution exon 1 VAR_030092 Q96E22:p.Asn175Tyr SP substitution exon 1 VAR_030093 Q96E22:p.Asp179Glu SP substitution exon 1 VAR_030095 Q96E22:p.Lys216Arg SP substitution exon 1 VAR_030096 Q96E22:p.Thr219Lys SP substitution exon 1 VAR_030097 Q9H5Q4:p.Pro156Leu SP substitution exon 1 VAR_030098 Q9H5Q4:p.His264Tyr SP substitution exon 1 VAR_030101 Q13395:p.Leu221Pro SP substitution exon 1 VAR_030102 Q13395:p.Ala425Thr SP substitution exon 1 VAR_030103 Q13395:p.Ser678Gly SP substitution exon 1 VAR_030104 Q13395:p.Asn743Ser SP substitution exon 1 VAR_030105 Q13395:p.His864Pro SP substitution exon 1 VAR_030106 Q13395:p.Phe997Leu SP substitution exon 1 VAR_030107 Q13395:p.Thr1038Ile SP substitution exon 1 VAR_030108 Q13395:p.Ile1359Val SP substitution exon 1 VAR_030109 Q13395:p.Ile1461Val SP substitution exon 1 VAR_030110 Q6PGQ7:p.Ser210Leu SP substitution exon 1 VAR_030111 Q6PGQ7:p.Ser308Phe SP substitution exon 1 VAR_030112 Q9Y3B9:p.Lys149Asn SP substitution exon 1 VAR_030113 Q9Y3B9:p.Lys230Arg SP substitution exon 1 VAR_030114 Q8NBI3:p.Leu37Phe SP substitution exon 1 VAR_030115 P02461:p.His1353Gln SP substitution exon 1 VAR_030116 P08123:p.Thr59Pro SP substitution exon 1 VAR_030118 P08123:p.Val270Ile SP substitution exon 1 VAR_030119 P08123:p.Ala483Val SP substitution exon 1 VAR_030121 P08123:p.Pro678His SP substitution exon 1 VAR_030122 P08123:p.Gln1354His SP substitution exon 1 VAR_030123 Q8TEA7:p.Gln266Glu SP substitution exon 1 VAR_030124 Q8TEA7:p.Lys489Asn SP substitution exon 1 VAR_030126 Q53H76:p.Ser23Ile SP substitution exon 1 VAR_030127 Q53H76:p.Arg110His SP substitution exon 1 VAR_030129 Q5VT66:p.Thr165Ala SP substitution exon 1 VAR_030130 Q5VT66:p.Met187Lys SP substitution exon 1 VAR_030131 Q5VT66:p.Cys246Ser SP substitution exon 1 VAR_030132 Q5VT66:p.Met268Ile SP substitution exon 1 VAR_030133 Q969Z3:p.Gly244Ser SP substitution exon 1 VAR_030134 Q86TN4:p.Phe3Leu SP substitution exon 1 VAR_030135 Q86TN4:p.His172Arg SP substitution exon 1 VAR_030136 Q86TN4:p.Arg221Cys SP substitution exon 1 VAR_030137 Q5T8P6:p.Val718Asp SP substitution exon 1 VAR_030138 Q9H3U5:p.Pro24Ser SP substitution exon 1 VAR_030139 Q9H3U5:p.Lys168Glu SP substitution exon 1 VAR_030140 Q9H3U5:p.Ile220Val SP substitution exon 1 VAR_030141 Q96ES6:p.Gly292Arg SP substitution exon 1 VAR_030142 Q8N468:p.Leu228Ile SP substitution exon 1 VAR_030143 Q8N468:p.Gly314Ala SP substitution exon 1 VAR_030144 Q6UXD7:p.Ser170Pro SP substitution exon 1 VAR_030145 Q9Y2Y4:p.Arg174Ser SP substitution exon 1 VAR_030146 Q8TCC7:p.Phe129Leu SP substitution exon 1 VAR_030147 Q8TCC7:p.Arg149Ser SP substitution exon 1 VAR_030148 Q8TCC7:p.Ile260Arg SP substitution exon 1 VAR_030149 Q8TCC7:p.Arg277Trp SP substitution exon 1 VAR_030150 Q8TCC7:p.Val281Ala SP substitution exon 1 VAR_030151 Q8TCC7:p.Ile305Phe SP substitution exon 1 VAR_030152 Q8TCC7:p.Ala389Val SP substitution exon 1 VAR_030153 Q8TCC7:p.Val448Ile SP substitution exon 1 VAR_030154 Q9C035:p.Val112Phe SP substitution exon 1 VAR_030158 Q8WYA1:p.Asn340Ser SP substitution exon 1 VAR_030159 Q8WYA1:p.Ala574Val SP substitution exon 1 VAR_030164 Q15154:p.Ser159Asn SP substitution exon 1 VAR_030165 Q15154:p.Ala176Asp SP substitution exon 1 VAR_030166 Q15154:p.Met597Val SP substitution exon 1 VAR_030167 Q15154:p.Ala691Ser SP substitution exon 1 VAR_030168 Q15154:p.Gly871Val SP substitution exon 1 VAR_030169 Q15154:p.Arg1251His SP substitution exon 1 VAR_030170 Q15154:p.Thr1543Ile SP substitution exon 1 VAR_030171 Q96JB1:p.Asn71Ser SP substitution exon 1 VAR_030172 Q96JB1:p.Gly473Arg SP substitution exon 1 VAR_030173 Q96JB1:p.Ile573Val SP substitution exon 1 VAR_030174 Q96JB1:p.Ala727Thr SP substitution exon 1 VAR_030175 Q96JB1:p.Gly807Glu SP substitution exon 1 VAR_030176 Q96JB1:p.Glu1202Lys SP substitution exon 1 VAR_030177 Q96JB1:p.Thr2444Asn SP substitution exon 1 VAR_030178 Q96JB1:p.Thr4106Met SP substitution exon 1 VAR_030179 Q96JB1:p.Ile4271Val SP substitution exon 1 VAR_030180 Q8IX19:p.Ile167Val SP substitution exon 1 VAR_030181 Q96Q89:p.Ala50Gly SP substitution exon 1 VAR_030182 Q96Q89:p.Glu490Asp SP substitution exon 1 VAR_030183 Q96Q89:p.Asn756Ile SP substitution exon 1 VAR_030184 Q96Q89:p.His789Leu SP substitution exon 1 VAR_030185 Q96Q89:p.Asp1011Glu SP substitution exon 1 VAR_030193 P12882:p.Arg1341Cys SP substitution exon 1 VAR_030194 P12882:p.Gln1539His SP substitution exon 1 VAR_030195 P12882:p.Arg1716Cys SP substitution exon 1 VAR_030196 P11055:p.Arg1137Cys SP substitution exon 1 VAR_030197 P11055:p.Ala1192Thr SP substitution exon 1 VAR_030198 Q9Y623:p.Ala594Thr SP substitution exon 1 VAR_030199 Q9Y623:p.Ile1106Met SP substitution exon 1 VAR_030200 Q9Y623:p.Ala1117Asp SP substitution exon 1 VAR_030201 Q9Y623:p.Glu1209Lys SP substitution exon 1 VAR_030202 Q9Y623:p.Asp1802Gly SP substitution exon 1 VAR_030203 P13533:p.Glu88Gln SP substitution exon 1 VAR_030204 P13533:p.Leu783Met SP substitution exon 1 VAR_030205 P13533:p.Val1101Ala SP substitution exon 1 VAR_030206 P13533:p.Thr1737Ser SP substitution exon 1 VAR_030207 P13535:p.Glu924Gly SP substitution exon 1 VAR_030208 P13535:p.Glu1261Gly SP substitution exon 1 VAR_030209 P13535:p.Trp1692Arg SP substitution exon 1 VAR_030210 Q3YEC7:p.Glu382Gln SP substitution exon 1 VAR_030214 Q2TBA0:p.Asn345Ser SP substitution exon 1 VAR_030215 Q2TBA0:p.Cys617Arg SP substitution exon 1 VAR_030216 Q5T681:p.Glu121Asp SP substitution exon 1 VAR_030217 O60279:p.Leu52Phe SP substitution exon 1 VAR_030218 O60279:p.Arg228Lys SP substitution exon 1 VAR_030220 Q5VUB5:p.Pro465Ser SP substitution exon 1 VAR_030221 Q495D7:p.Pro38Leu SP substitution exon 1 VAR_030222 Q495D7:p.Ala76Glu SP substitution exon 1 VAR_030223 Q495D7:p.Ile84Val SP substitution exon 1 VAR_030224 Q52M58:p.Arg3Trp SP substitution exon 1 VAR_030225 Q52M58:p.Val33Ala SP substitution exon 1 VAR_030226 Q5U649:p.Lys51Arg SP substitution exon 1 VAR_030227 Q5U649:p.Lys65Arg SP substitution exon 1 VAR_030228 Q5U649:p.Asn103Lys SP substitution exon 1 VAR_030229 Q96LP6:p.Glu11Asp SP substitution exon 1 VAR_030230 Q96LP6:p.Pro182Arg SP substitution exon 1 VAR_030231 Q9UKX3:p.Gly701Arg SP substitution exon 1 VAR_030232 Q9UKX3:p.Asp1076Glu SP substitution exon 1 VAR_030233 Q9UKX3:p.Arg1294Gln SP substitution exon 1 VAR_030234 Q9UKX3:p.His1862Arg SP substitution exon 1 VAR_030235 Q9Y2K3:p.Arg454Gln SP substitution exon 1 VAR_030236 Q9Y2K3:p.His504Tyr SP substitution exon 1 VAR_030237 Q9Y2K3:p.Thr949Ile SP substitution exon 1 VAR_030238 Q9Y2K3:p.Thr1125Ala SP substitution exon 1 VAR_030239 P35749:p.Ala1234Thr SP substitution exon 1 VAR_030240 P35749:p.Val1289Ala SP substitution exon 1 VAR_030241 P35749:p.Val1310Met SP substitution exon 1 VAR_030242 P49902:p.Gln136Arg SP substitution exon 1 VAR_030246 Q86YJ5:p.Gln257His SP substitution exon 1 VAR_030247 Q86YJ5:p.Thr307Pro SP substitution exon 1 VAR_030248 Q8N769:p.His26Tyr SP substitution exon 1 VAR_030249 Q8N2G6:p.Glu43Val SP substitution exon 1 VAR_030250 Q6IAA8:p.Ser73Leu SP substitution exon 1 VAR_030252 Q6X4T0:p.Pro86Ser SP substitution exon 1 VAR_030253 Q86XN7:p.Val571Ala SP substitution exon 1 VAR_030254 Q86XN7:p.Ser847Thr SP substitution exon 1 VAR_030255 Q5T655:p.Ser496Thr SP substitution exon 1 VAR_030256 Q5T655:p.Gln804His SP substitution exon 1 VAR_030260 Q96KW9:p.Val111Asp SP substitution exon 1 VAR_030261 Q5VYS4:p.Arg59Gly SP substitution exon 1 VAR_030262 Q9NV12:p.Pro6Ser SP substitution exon 1 VAR_030263 Q9NV12:p.Arg7Gln SP substitution exon 1 VAR_030264 Q9NV12:p.Gln11Glu SP substitution exon 1 VAR_030265 Q9NV12:p.Phe29Leu SP substitution exon 1 VAR_030266 Q5T0T0:p.Pro92Ser SP substitution exon 1 VAR_030269 Q96LY2:p.Thr169Met SP substitution exon 1 VAR_030270 Q96LY2:p.Arg346His SP substitution exon 1 VAR_030271 Q7Z5V6:p.Thr238Asn SP substitution exon 1 VAR_030272 Q7Z5V6:p.Ser382Thr SP substitution exon 1 VAR_030273 Q17RC7:p.Arg77Trp SP substitution exon 1 VAR_030274 Q17RC7:p.Asp93Glu SP substitution exon 1 VAR_030275 Q17RC7:p.Leu185His SP substitution exon 1 VAR_030276 Q17RC7:p.Gln675Arg SP substitution exon 1 VAR_030277 Q9BQ65:p.Gln250Glu SP substitution exon 1 VAR_030278 O43361:p.Gln243Arg SP substitution exon 1 VAR_030279 O43361:p.Ala405Thr SP substitution exon 1 VAR_030280 O43361:p.Ile771Arg SP substitution exon 1 VAR_030281 Q9NUU6:p.Phe319Leu SP substitution exon 1 VAR_030284 Q9H992:p.Thr100Ser SP substitution exon 1 VAR_030285 Q9H992:p.Thr193Ile SP substitution exon 1 VAR_030286 Q9H992:p.Gly379Ser SP substitution exon 1 VAR_030287 Q9NQZ7:p.Val276Ala SP substitution exon 1 VAR_030288 Q2KHT3:p.Gly906Glu SP substitution exon 1 VAR_030291 Q8IW00:p.Phe68Ser SP substitution exon 1 VAR_030292 Q9NS98:p.Ile232Thr SP substitution exon 1 VAR_030293 Q92854:p.Ala72Thr SP substitution exon 1 VAR_030294 Q13591:p.Val246Leu SP substitution exon 1 VAR_030295 Q13591:p.Ser792Leu SP substitution exon 1 VAR_030296 Q9H2E6:p.Tyr518His SP substitution exon 1 VAR_030297 Q9H2E6:p.Arg559His SP substitution exon 1 VAR_030298 Q9H2E6:p.Asp567Glu SP substitution exon 1 VAR_030299 Q13057:p.Ser55Tyr SP substitution exon 1 VAR_030300 Q8N9V6:p.Leu153Ile SP substitution exon 1 VAR_030301 Q53HC0:p.Ser70Cys SP substitution exon 1 VAR_030302 Q53HC0:p.Arg281His SP substitution exon 1 VAR_030303 Q9P0N8:p.Ala54Thr SP substitution exon 1 VAR_030304 Q9Y448:p.Ala40Glu SP substitution exon 1 VAR_030305 Q9Y448:p.Arg75Leu SP substitution exon 1 VAR_030306 Q9Y448:p.Pro92Ser SP substitution exon 1 VAR_030309 Q6NUT3:p.Tyr182His SP substitution exon 1 VAR_030310 Q6NUT3:p.Arg243His SP substitution exon 1 VAR_030311 Q6NUT3:p.Arg476Cys SP substitution exon 1 VAR_030312 O60687:p.Tyr72Ser SP substitution exon 1 VAR_030313 O60687:p.Thr287Ser SP substitution exon 1 VAR_030314 O60687:p.Asn327Ser SP substitution exon 1 VAR_030315 P12110:p.Ser399Asn SP substitution exon 1 VAR_030316 P12110:p.Arg680His SP substitution exon 1 VAR_030317 Q96NW4:p.Ser657Gly SP substitution exon 1 VAR_030318 Q96NW4:p.Pro761Arg SP substitution exon 1 VAR_030320 Q8IWE2:p.Gly84Arg SP substitution exon 1 VAR_030321 Q8IWE2:p.Leu116Pro SP substitution exon 1 VAR_030322 Q8IWE2:p.Pro201Leu SP substitution exon 1 VAR_030325 P16070:p.Thr393Met SP substitution exon 1 VAR_030326 P16070:p.Ile479Thr SP substitution exon 1 VAR_030327 P16070:p.Asp494His SP substitution exon 1 VAR_030328 Q8NI17:p.Asp155Asn SP substitution exon 1 VAR_030329 Q8NI17:p.Ser497Asn SP substitution exon 1 VAR_030330 Q9P0V3:p.Met155Thr SP substitution exon 1 VAR_030331 Q9P0V3:p.Ala197Thr SP substitution exon 1 VAR_030332 Q8NA54:p.Val126Met SP substitution exon 1 VAR_030333 Q8NA54:p.Asp691Asn SP substitution exon 1 VAR_030334 Q8NA54:p.Arg735Pro SP substitution exon 1 VAR_030335 Q9NX55:p.Ser105Pro SP substitution exon 1 VAR_030336 Q8NCP5:p.Lys185Glu SP substitution exon 1 VAR_030337 P50391:p.Ala99Ser SP substitution exon 1 VAR_030338 P50391:p.Arg240Cys SP substitution exon 1 VAR_030339 P14415:p.Thr199Ala SP substitution exon 1 VAR_030340 Q8N7E2:p.Asp166Glu SP substitution exon 1 VAR_030341 Q8N7E2:p.Ser287Phe SP substitution exon 1 VAR_030343 P05156:p.Ile340Thr SP substitution exon 1 VAR_030345 P58418:p.Asn48Lys SP substitution exon 1 VAR_030346 P58418:p.Leu150Pro SP substitution exon 1 VAR_030347 P46821:p.Glu869Gly SP substitution exon 1 VAR_030348 Q9Y5P0:p.Met147Thr SP substitution exon 1 VAR_030349 O75581:p.Val483Ile SP substitution exon 1 VAR_030350 O75581:p.Ser817Cys SP substitution exon 1 VAR_030351 Q6ZN55:p.Arg332Gln SP substitution exon 1 VAR_030352 Q6ZN55:p.Arg785Gln SP substitution exon 1 VAR_030353 Q9NZJ0:p.Ala436Val SP substitution exon 1 VAR_030355 Q9HAH1:p.Arg137Cys SP substitution exon 1 VAR_030356 Q86YE8:p.Gly166Ala SP substitution exon 1 VAR_030357 Q9UNQ0:p.Asp296His SP substitution exon 1 VAR_030359 Q07075:p.Gln213Arg SP substitution exon 1 VAR_030360 Q07075:p.Val218Ala SP substitution exon 1 VAR_030362 Q96FG2:p.Arg66Cys SP substitution exon 1 VAR_030363 Q96FG2:p.Thr70Ile SP substitution exon 1 VAR_030364 Q9BWE0:p.Leu14Pro SP substitution exon 1 VAR_030365 Q9BWE0:p.Pro88Ser SP substitution exon 1 VAR_030366 Q9BWE0:p.Arg92His SP substitution exon 1 VAR_030367 Q9BWE0:p.Ala97Val SP substitution exon 1 VAR_030368 Q12834:p.Val402Met SP substitution exon 1 VAR_030369 Q12834:p.Arg479Gln SP substitution exon 1 VAR_030370 P11055:p.Thr178Ile SP substitution exon 1 VAR_030371 P11055:p.Ser261Phe SP substitution exon 1 VAR_030372 P11055:p.Ser292Cys SP substitution exon 1 VAR_030373 P11055:p.Glu375Lys SP substitution exon 1 VAR_030374 P11055:p.Glu498Gly SP substitution exon 1 VAR_030375 P11055:p.Asp517Tyr SP substitution exon 1 VAR_030376 P11055:p.Tyr583Ser SP substitution exon 1 VAR_030377 P11055:p.Arg672Cys SP substitution exon 1 VAR_030378 P11055:p.Arg672His SP substitution exon 1 VAR_030379 P11055:p.Gly769Val SP substitution exon 1 VAR_030380 P11055:p.Val825Asp SP substitution exon 1 VAR_030381 P11055:p.Lys838Glu SP substitution exon 1 VAR_030383 P11055:p.Asp1622Ala SP substitution exon 1 VAR_030384 P11055:p.Ala1637Val SP substitution exon 1 VAR_030385 P35579:p.Ile1816Val SP substitution exon 1 VAR_030386 O95342:p.Glu186Gly SP substitution exon 1 VAR_030387 O95342:p.Ile206Val SP substitution exon 1 VAR_030388 O95342:p.Gly238Val SP substitution exon 1 VAR_030389 O95342:p.Arg299Lys SP substitution exon 1 VAR_030390 O95342:p.Cys336Ser SP substitution exon 1 VAR_030391 O95342:p.Arg432Thr SP substitution exon 1 VAR_030392 O95342:p.Ala570Thr SP substitution exon 1 VAR_030393 O95342:p.Met677Val SP substitution exon 1 VAR_030399 Q2I0M5:p.Gln65Arg SP substitution exon 1 VAR_030400 Q2I0M5:p.Cys95Phe SP substitution exon 1 VAR_030401 Q2I0M5:p.Cys107Arg SP substitution exon 1 VAR_030402 Q2I0M5:p.Cys118Tyr SP substitution exon 1 VAR_030403 P32004:p.His30Asn SP substitution exon 1 VAR_030404 P32004:p.Arg184Trp SP substitution exon 1 VAR_030405 P32004:p.Asp202Tyr SP substitution exon 1 VAR_030406 P32004:p.Gly268Asp SP substitution exon 1 VAR_030407 P32004:p.Trp335Cys SP substitution exon 1 VAR_030408 P32004:p.Asn408Ile SP substitution exon 1 VAR_030409 P32004:p.Val421Asp SP substitution exon 1 VAR_030410 P32004:p.Ala426Asp SP substitution exon 1 VAR_030411 P32004:p.Leu482Pro SP substitution exon 1 VAR_030412 P32004:p.Cys497Tyr SP substitution exon 1 VAR_030414 P32004:p.Ser542Pro SP substitution exon 1 VAR_030415 P32004:p.Lys655Glu SP substitution exon 1 VAR_030416 P32004:p.Ala691Thr SP substitution exon 1 VAR_030417 P32004:p.Arg739Trp SP substitution exon 1 VAR_030418 P32004:p.Met741Thr SP substitution exon 1 VAR_030419 P32004:p.Arg751Pro SP substitution exon 1 VAR_030420 P32004:p.Val768Ile SP substitution exon 1 VAR_030421 P32004:p.Gly1239Glu SP substitution exon 1 VAR_030422 Q9NRI5:p.Gly5Val SP substitution exon 1 VAR_030423 Q07889:p.Glu108Lys SP substitution exon 1 VAR_030424 Q07889:p.Thr266Lys SP substitution exon 1 VAR_030425 Q07889:p.Met269Arg SP substitution exon 1 VAR_030426 Q07889:p.Asp309Tyr SP substitution exon 1 VAR_030427 Q07889:p.Tyr337Cys SP substitution exon 1 VAR_030428 Q07889:p.Trp432Arg SP substitution exon 1 VAR_030429 Q07889:p.Glu433Lys SP substitution exon 1 VAR_030430 Q07889:p.Gly434Arg SP substitution exon 1 VAR_030431 Q07889:p.Cys441Tyr SP substitution exon 1 VAR_030432 Q07889:p.Ser548Arg SP substitution exon 1 VAR_030433 Q07889:p.Leu550Pro SP substitution exon 1 VAR_030434 Q07889:p.Arg552Gly SP substitution exon 1 VAR_030435 Q07889:p.Arg552Lys SP substitution exon 1 VAR_030436 Q07889:p.Arg552Ser SP substitution exon 1 VAR_030437 Q07889:p.Pro655Leu SP substitution exon 1 VAR_030438 Q07889:p.Tyr702His SP substitution exon 1 VAR_030439 Q07889:p.Trp729Leu SP substitution exon 1 VAR_030440 Q07889:p.Ile733Phe SP substitution exon 1 VAR_030441 Q07889:p.Glu846Lys SP substitution exon 1 VAR_030442 Q07889:p.Gln977Arg SP substitution exon 1 VAR_030443 Q07889:p.His1320Arg SP substitution exon 1 VAR_030445 P08514:p.Leu86Pro SP substitution exon 1 VAR_030446 P08514:p.Ala139Val SP substitution exon 1 VAR_030447 P08514:p.Cys161Trp SP substitution exon 1 VAR_030448 P08514:p.Tyr174His SP substitution exon 1 VAR_030449 P08514:p.Phe202Cys SP substitution exon 1 VAR_030450 P08514:p.Thr207Ile SP substitution exon 1 VAR_030451 P08514:p.Leu214Pro SP substitution exon 1 VAR_030452 P08514:p.Phe222Leu SP substitution exon 1 VAR_030453 P08514:p.Gly267Glu SP substitution exon 1 VAR_030454 P08514:p.Val329Phe SP substitution exon 1 VAR_030455 P08514:p.Gly380Asp SP substitution exon 1 VAR_030456 P08514:p.Ile405Thr SP substitution exon 1 VAR_030457 P08514:p.Gly412Arg SP substitution exon 1 VAR_030459 P08514:p.Ala581Asp SP substitution exon 1 VAR_030460 P08514:p.Ile596Thr SP substitution exon 1 VAR_030461 P08514:p.Cys705Arg SP substitution exon 1 VAR_030462 P08514:p.Leu752Val SP substitution exon 1 VAR_030463 P08514:p.Arg755Pro SP substitution exon 1 VAR_030464 P08514:p.Leu847Pro SP substitution exon 1 VAR_030465 P08514:p.Pro943Leu SP substitution exon 1 VAR_030466 P08514:p.Val982Met SP substitution exon 1 VAR_030467 P08514:p.Ala989Thr SP substitution exon 1 VAR_030468 P08514:p.Arg1026Gln SP substitution exon 1 VAR_030469 Q96BF3:p.Ala202Pro SP substitution exon 1 VAR_030470 P46952:p.Thr42Ser SP substitution exon 1 VAR_030471 P18054:p.Glu259Lys SP substitution exon 1 VAR_030472 Q8WWQ2:p.Ala315Thr SP substitution exon 1 VAR_030473 P05106:p.Arg119Trp SP substitution exon 1 VAR_030474 P05106:p.Tyr141Cys SP substitution exon 1 VAR_030475 P05106:p.Asp145Asn SP substitution exon 1 VAR_030476 P05106:p.Met150Val SP substitution exon 1 VAR_030477 P05106:p.Thr166Ile SP substitution exon 1 VAR_030478 P05106:p.Leu222Pro SP substitution exon 1 VAR_030479 P05106:p.Arg242Gln SP substitution exon 1 VAR_030480 P05106:p.Asp243Val SP substitution exon 1 VAR_030481 P05106:p.Leu288Pro SP substitution exon 1 VAR_030482 P05106:p.Met321Leu SP substitution exon 1 VAR_030483 P05106:p.Ile330Asn SP substitution exon 1 VAR_030484 P05106:p.Cys532Tyr SP substitution exon 1 VAR_030485 P05106:p.Cys586Arg SP substitution exon 1 VAR_030486 P05106:p.Cys601Arg SP substitution exon 1 VAR_030487 Q96S06:p.Ser203Pro SP substitution exon 1 VAR_030489 O00429:p.Glu426Asp SP substitution exon 1 VAR_030490 O94955:p.Arg20Gln SP substitution exon 1 VAR_030491 Q96C57:p.Gly44Arg SP substitution exon 1 VAR_030492 Q8NHX9:p.Lys376Arg SP substitution exon 1 VAR_030493 Q8NHX9:p.Leu564Pro SP substitution exon 1 VAR_030494 Q8NHX9:p.Gly734Glu SP substitution exon 1 VAR_030495 P22033:p.Thr598Ala SP substitution exon 1 VAR_030496 P69892:p.Val21Ala SP substitution exon 1 VAR_030497 P69892:p.Thr39Pro SP substitution exon 1 VAR_030498 P69892:p.Ile76Val SP substitution exon 1 VAR_030499 P02042:p.His3Leu SP substitution exon 1 VAR_030500 P02042:p.Ala11Asp SP substitution exon 1 VAR_030501 P02042:p.Val12Gly SP substitution exon 1 VAR_030502 P02042:p.Pro37His SP substitution exon 1 VAR_030503 P02042:p.Asn58Lys SP substitution exon 1 VAR_030504 P02042:p.Ala71Gly SP substitution exon 1 VAR_030505 P02042:p.Phe86Ser SP substitution exon 1 VAR_030506 P02042:p.Gln88Lys SP substitution exon 1 VAR_030507 P02042:p.Leu89Val SP substitution exon 1 VAR_030508 P02042:p.Arg105Ser SP substitution exon 1 VAR_030509 P02042:p.Val134Ala SP substitution exon 1 VAR_030510 P02042:p.Ala141Val SP substitution exon 1 VAR_030511 P02462:p.Thr555Pro SP substitution exon 1 VAR_030512 Q9BZ11:p.Asn109Ser SP substitution exon 1 VAR_030513 Q9BZ11:p.Thr272Met SP substitution exon 1 VAR_030514 Q9BZ11:p.Val316Ile SP substitution exon 1 VAR_030515 Q9BZ11:p.Pro336Ser SP substitution exon 1 VAR_030516 Q9BZ11:p.Ala365Ser SP substitution exon 1 VAR_030517 Q9BZ11:p.Asp441Glu SP substitution exon 1 VAR_030518 Q9BZ11:p.Trp515Arg SP substitution exon 1 VAR_030519 Q9BZ11:p.Leu612His SP substitution exon 1 VAR_030520 Q9BZ11:p.Val710Ile SP substitution exon 1 VAR_030521 Q9BZ11:p.Cys739Gly SP substitution exon 1 VAR_030522 Q9BZ11:p.Asp742Tyr SP substitution exon 1 VAR_030523 P51511:p.Leu200Pro SP substitution exon 1 VAR_030524 P51511:p.Pro350Leu SP substitution exon 1 VAR_030525 P51511:p.Asp596Gly SP substitution exon 1 VAR_030526 P51511:p.Arg622Trp SP substitution exon 1 VAR_030527 O43187:p.Ser47Tyr SP substitution exon 1 VAR_030528 O43187:p.Leu392Val SP substitution exon 1 VAR_030529 O43187:p.Asp431Glu SP substitution exon 1 VAR_030530 O43187:p.Leu439Val SP substitution exon 1 VAR_030531 O43187:p.Leu503Ile SP substitution exon 1 VAR_030532 O43187:p.Asp574His SP substitution exon 1 VAR_030533 Q6W0C5:p.Glu51Gln SP substitution exon 1 VAR_030534 Q9UIE0:p.Ser310Cys SP substitution exon 1 VAR_030535 Q9UIE0:p.Phe434Tyr SP substitution exon 1 VAR_030536 Q8N0V4:p.Arg444Gln SP substitution exon 1 VAR_030537 Q8N0V4:p.Gln452Arg SP substitution exon 1 VAR_030538 Q8NEV8:p.Arg19Gly SP substitution exon 1 VAR_030539 Q8NEV8:p.Arg118Leu SP substitution exon 1 VAR_030540 Q8NEV8:p.Glu137Val SP substitution exon 1 VAR_030541 Q8NEV8:p.Arg328Gln SP substitution exon 1 VAR_030542 Q8NEV8:p.Met512Leu SP substitution exon 1 VAR_030543 Q8NEV8:p.Val525Phe SP substitution exon 1 VAR_030544 Q8NEV8:p.Ser676Asn SP substitution exon 1 VAR_030545 Q8NEV8:p.Asp777Asn SP substitution exon 1 VAR_030546 Q8NEV8:p.Leu853Pro SP substitution exon 1 VAR_030547 Q8NEV8:p.Asn892Tyr SP substitution exon 1 VAR_030548 Q8NEV8:p.Val899Ala SP substitution exon 1 VAR_030549 Q8NEV8:p.Asp1240Asn SP substitution exon 1 VAR_030550 Q8NEV8:p.Cys1311Arg SP substitution exon 1 VAR_030551 Q8NEV8:p.Gly1663Arg SP substitution exon 1 VAR_030553 P22830:p.Pro62Arg SP substitution exon 1 VAR_030554 P22830:p.Ile71Lys SP substitution exon 1 VAR_030555 P22830:p.Gln139Leu SP substitution exon 1 VAR_030556 P22830:p.Ser151Pro SP substitution exon 1 VAR_030557 P22830:p.Glu178Lys SP substitution exon 1 VAR_030558 P22830:p.Leu182Arg SP substitution exon 1 VAR_030559 P22830:p.Tyr191His SP substitution exon 1 VAR_030560 P22830:p.Pro192Thr SP substitution exon 1 VAR_030561 P22830:p.Cys236Tyr SP substitution exon 1 VAR_030562 P22830:p.Phe260Leu SP substitution exon 1 VAR_030572 P15311:p.Arg180Cys SP substitution exon 1 VAR_030573 P15311:p.Ala494Pro SP substitution exon 1 VAR_030574 Q6PJP8:p.Gly582Trp SP substitution exon 1 VAR_030575 Q9Y231:p.Trp358Gly SP substitution exon 1 VAR_030576 P49639:p.Glu189Ala SP substitution exon 1 VAR_030578 Q8NE63:p.Arg302Gln SP substitution exon 1 VAR_030579 Q9NX46:p.Glu209Lys SP substitution exon 1 VAR_030580 Q9H706:p.Thr243Asn SP substitution exon 1 VAR_030581 Q9H706:p.Lys291Arg SP substitution exon 1 VAR_030582 Q9H706:p.Ala490Val SP substitution exon 1 VAR_030583 Q9H706:p.Val580Ile SP substitution exon 1 VAR_030584 Q9H706:p.Thr720Met SP substitution exon 1 VAR_030585 Q92614:p.Ala958Val SP substitution exon 1 VAR_030590 Q1L5Z9:p.Leu183Pro SP substitution exon 1 VAR_030591 Q9NQL9:p.Ala164Thr SP substitution exon 1 VAR_030592 Q9NQL9:p.Asn261Thr SP substitution exon 1 VAR_030593 Q9NQL9:p.Gly356Val SP substitution exon 1 VAR_030594 A0AVT1:p.Ala224Thr SP substitution exon 1 VAR_030595 Q9UM01:p.Met50Lys SP substitution exon 1 VAR_030596 Q9UM01:p.Thr188Ile SP substitution exon 1 VAR_030597 Q9UM01:p.Ser238Phe SP substitution exon 1 VAR_030598 Q9UM01:p.Arg333Met SP substitution exon 1 VAR_030599 Q9UM01:p.Ser489Pro SP substitution exon 1 VAR_030600 Q9NX00:p.Gly120Ser SP substitution exon 1 VAR_030601 Q5SVQ8:p.Asp327Tyr SP substitution exon 1 VAR_030602 Q8N5T2:p.Ser241Gly SP substitution exon 1 VAR_030603 Q8N5T2:p.Ser509Phe SP substitution exon 1 VAR_030604 Q16584:p.Pro252His SP substitution exon 1 VAR_030605 Q8WXR4:p.Ile275Val SP substitution exon 1 VAR_030606 Q8WXR4:p.Lys309Glu SP substitution exon 1 VAR_030607 Q8WXR4:p.Ala406Thr SP substitution exon 1 VAR_030608 Q8WXR4:p.Val770Ile SP substitution exon 1 VAR_030609 Q8WXR4:p.Glu798Lys SP substitution exon 1 VAR_030610 Q8WXR4:p.Arg1082Lys SP substitution exon 1 VAR_030611 Q8WWF5:p.Pro37Ser SP substitution exon 1 VAR_030612 Q8WWF5:p.Arg78Gln SP substitution exon 1 VAR_030613 Q8WWF5:p.Val100Ile SP substitution exon 1 VAR_030614 Q8WWF5:p.Ala157Ser SP substitution exon 1 VAR_030615 Q8WWF5:p.Val159Ala SP substitution exon 1 VAR_030616 Q8WWF5:p.Arg163Cys SP substitution exon 1 VAR_030617 Q8WWF5:p.Arg163His SP substitution exon 1 VAR_030618 Q8WWF5:p.Asp192Asn SP substitution exon 1 VAR_030619 Q15067:p.Thr153Ile SP substitution exon 1 VAR_030620 Q8WWG9:p.Gly47Ser SP substitution exon 1 VAR_030621 Q8TDI7:p.Ser573Cys SP substitution exon 1 VAR_030622 Q8TDI7:p.Glu800Gln SP substitution exon 1 VAR_030623 Q9Y4C1:p.Glu194Lys SP substitution exon 1 VAR_030624 Q9Y4C1:p.Val710Glu SP substitution exon 1 VAR_030625 Q96MC2:p.Lys357Glu SP substitution exon 1 VAR_030626 Q96MC2:p.Trp399Arg SP substitution exon 1 VAR_030627 Q96MC2:p.Val633Phe SP substitution exon 1 VAR_030628 Q96MC2:p.Ser702Ile SP substitution exon 1 VAR_030629 Q86UZ6:p.Thr11Ala SP substitution exon 1 VAR_030631 O15335:p.Thr350Ile SP substitution exon 1 VAR_030632 P55290:p.Leu121Ser SP substitution exon 1 VAR_030633 P51841:p.Tyr308Cys SP substitution exon 1 VAR_030634 P51841:p.Gln380His SP substitution exon 1 VAR_030635 P51841:p.Arg628Gln SP substitution exon 1 VAR_030636 O75173:p.Thr4Ile SP substitution exon 1 VAR_030637 O75173:p.Asp304Asn SP substitution exon 1 VAR_030638 O75173:p.Met369Val SP substitution exon 1 VAR_030639 O75173:p.Pro552Thr SP substitution exon 1 VAR_030640 O75173:p.Thr564Ala SP substitution exon 1 VAR_030641 O75173:p.Arg836Lys SP substitution exon 1 VAR_030642 P78524:p.Ser657Phe SP substitution exon 1 VAR_030643 Q5SZD1:p.Pro235Leu SP substitution exon 1 VAR_030644 Q9HCQ7:p.Val121Met SP substitution exon 1 VAR_030645 Q8WZA1:p.Glu250Val SP substitution exon 1 VAR_030646 Q8WZA1:p.Val504Ile SP substitution exon 1 VAR_030647 Q9BYI3:p.Leu53Pro SP substitution exon 1 VAR_030648 P08922:p.Thr145Pro SP substitution exon 1 VAR_030649 P08922:p.Arg167Gln SP substitution exon 1 VAR_030650 P08922:p.Ser1109Leu SP substitution exon 1 VAR_030651 P08922:p.Phe1439Ser SP substitution exon 1 VAR_030652 P08922:p.Asp1776His SP substitution exon 1 VAR_030653 P08922:p.Glu1902Lys SP substitution exon 1 VAR_030654 P08922:p.Arg2039His SP substitution exon 1 VAR_030655 P08922:p.Asp2213Asn SP substitution exon 1 VAR_030656 P08922:p.Ser2229Cys SP substitution exon 1 VAR_030657 P08922:p.Asn2240Lys SP substitution exon 1 VAR_030658 P48643:p.His147Arg SP substitution exon 1 VAR_030659 P01138:p.Arg221Trp SP substitution exon 1 VAR_030660 P61769:p.Ala11Pro SP substitution exon 1 VAR_030661 Q9NZW4:p.Arg68Trp SP substitution exon 1 VAR_030662 Q8NBS3:p.Gly464Asp SP substitution exon 1 VAR_030663 Q8NBS3:p.Ser489Leu SP substitution exon 1 VAR_030664 Q8NBS3:p.Arg755Gln SP substitution exon 1 VAR_030665 Q8NBS3:p.Arg869Cys SP substitution exon 1 VAR_030666 Q8WXG6:p.Pro696Thr SP substitution exon 1 VAR_030667 Q8WXG6:p.Val751Met SP substitution exon 1 VAR_030668 Q8WXG6:p.Arg968Gly SP substitution exon 1 VAR_030669 Q8WXG6:p.Leu1040Phe SP substitution exon 1 VAR_030671 Q5FWF4:p.Glu541Lys SP substitution exon 1 VAR_030672 Q5FWF4:p.Arg546Gln SP substitution exon 1 VAR_030673 O00755:p.Ala109Thr SP substitution exon 1 VAR_030674 O00755:p.Arg292Cys SP substitution exon 1 VAR_030675 P31327:p.Arg850His SP substitution exon 1 VAR_030676 P31327:p.Ser918Pro SP substitution exon 1 VAR_030677 O95436:p.Gly106Arg SP substitution exon 1 VAR_030678 O95436:p.Asp634Gly SP substitution exon 1 VAR_030679 O00459:p.Ser234Arg SP substitution exon 1 VAR_030680 O00459:p.Ser313Pro SP substitution exon 1 VAR_030681 Q8N6C7:p.Arg73Ser SP substitution exon 1 VAR_030682 Q8N6C7:p.His91Gln SP substitution exon 1 VAR_030683 Q1ZYL8:p.Ala2Thr SP substitution exon 1 VAR_030684 P59538:p.Arg35Trp SP substitution exon 1 VAR_030685 P59538:p.Leu162Met SP substitution exon 1 VAR_030686 P59538:p.Gln217Glu SP substitution exon 1 VAR_030687 P59538:p.Ala227Val SP substitution exon 1 VAR_030688 P59538:p.Val240Ile SP substitution exon 1 VAR_030689 Q9HBL8:p.Thr23Ile SP substitution exon 1 VAR_030690 Q9HBL8:p.Pro252Leu SP substitution exon 1 VAR_030691 Q8N3J5:p.Asn94Lys SP substitution exon 1 VAR_030692 Q86WN1:p.Asn344Lys SP substitution exon 1 VAR_030693 Q86WN1:p.Pro681Leu SP substitution exon 1 VAR_030694 Q8NFY9:p.Cys420Arg SP substitution exon 1 VAR_030695 Q9H0E9:p.Thr490Met SP substitution exon 1 VAR_030696 O15228:p.Val495Ile SP substitution exon 1 VAR_030697 O15228:p.Tyr586His SP substitution exon 1 VAR_030698 O43164:p.Gln297Arg SP substitution exon 1 VAR_030699 O43164:p.Ala705Thr SP substitution exon 1 VAR_030700 Q6PCD5:p.Thr90Asn SP substitution exon 1 VAR_030701 Q6PCD5:p.Arg392Lys SP substitution exon 1 VAR_030702 Q6PCD5:p.Ile564Val SP substitution exon 1 VAR_030703 Q6PCD5:p.Ile770Thr SP substitution exon 1 VAR_030704 Q86WT6:p.Val31Ala SP substitution exon 1 VAR_030705 Q8TE73:p.Arg1716Leu SP substitution exon 1 VAR_030706 Q8TE73:p.Ser2264Asn SP substitution exon 1 VAR_030707 Q8TE73:p.Glu2347Lys SP substitution exon 1 VAR_030708 Q8TE73:p.Arg2501Pro SP substitution exon 1 VAR_030709 Q8TE73:p.Phe2843Ser SP substitution exon 1 VAR_030710 Q8TE73:p.Trp3409Ser SP substitution exon 1 VAR_030711 Q8TE73:p.Ser3843Leu SP substitution exon 1 VAR_030712 Q8TE73:p.Gly4205Val SP substitution exon 1 VAR_030713 Q68DV7:p.Ile47Val SP substitution exon 1 VAR_030714 Q68DV7:p.Arg117His SP substitution exon 1 VAR_030715 Q68DV7:p.Arg221Gln SP substitution exon 1 VAR_030716 Q68DV7:p.Pro231Leu SP substitution exon 1 VAR_030717 Q68DV7:p.Leu418Met SP substitution exon 1 VAR_030718 Q68DV7:p.Pro686Arg SP substitution exon 1 VAR_030719 Q2TAC6:p.Arg471Trp SP substitution exon 1 VAR_030720 Q5T7B8:p.Asp50Glu SP substitution exon 1 VAR_030721 Q5T7B8:p.Met140Val SP substitution exon 1 VAR_030725 A0FGR8:p.Cys210Ser SP substitution exon 1 VAR_030727 Q9P1Y6:p.Glu1231Ala SP substitution exon 1 VAR_030728 Q9P1Y6:p.Ala1374Val SP substitution exon 1 VAR_030729 Q9P1Y6:p.Val1449Ala SP substitution exon 1 VAR_030730 Q8N3P4:p.Ile83Val SP substitution exon 1 VAR_030734 Q9NSB2:p.Ser198Asn SP substitution exon 1 VAR_030735 Q9NSB2:p.Gly497Arg SP substitution exon 1 VAR_030736 O95471:p.Ala133Thr SP substitution exon 1 VAR_030737 Q92752:p.Arg643Lys SP substitution exon 1 VAR_030738 P26718:p.Asn177Ser SP substitution exon 1 VAR_030739 Q02535:p.Ser111Ala SP substitution exon 1 VAR_030740 Q8N3G9:p.Glu407Val SP substitution exon 1 VAR_030741 P20810:p.Glu380Lys SP substitution exon 1 VAR_030743 P80108:p.Leu17Val SP substitution exon 1 VAR_030744 P80108:p.Val30Ile SP substitution exon 1 VAR_030745 P80108:p.Asp275Glu SP substitution exon 1 VAR_030746 P80108:p.Gly396Ser SP substitution exon 1 VAR_030747 P80108:p.Val461Met SP substitution exon 1 VAR_030750 Q13316:p.Ser69Cys SP substitution exon 1 VAR_030751 Q13316:p.Asp117Asn SP substitution exon 1 VAR_030752 Q13316:p.Arg272His SP substitution exon 1 VAR_030753 P07510:p.Val107Gly SP substitution exon 1 VAR_030754 P07510:p.Ala149Thr SP substitution exon 1 VAR_030755 P07510:p.Arg239Cys SP substitution exon 1 VAR_030756 O15303:p.Gly150Ser SP substitution exon 1 VAR_030757 O15303:p.Glu781Lys SP substitution exon 1 VAR_030758 Q8TEX9:p.Ala513Val SP substitution exon 1 VAR_030759 Q8TEX9:p.Pro580Ala SP substitution exon 1 VAR_030761 Q9UN88:p.Leu15Ile SP substitution exon 1 VAR_030762 Q9UN88:p.Phe478Ile SP substitution exon 1 VAR_030763 P21439:p.Ile263Val SP substitution exon 1 VAR_030765 P21439:p.Thr651Asn SP substitution exon 1 VAR_030766 Q6J9G0:p.Arg71Gly SP substitution exon 1 VAR_030767 Q9H9L4:p.Asn313Ser SP substitution exon 1 VAR_030768 Q9H9L4:p.Pro445Thr SP substitution exon 1 VAR_030769 Q96CV9:p.Ser308Pro SP substitution exon 1 VAR_030770 Q13410:p.Val303Ala SP substitution exon 1 VAR_030771 Q7L590:p.Lys134Arg SP substitution exon 1 VAR_030772 Q7L590:p.Thr541Ser SP substitution exon 1 VAR_030773 Q7L590:p.Lys669Arg SP substitution exon 1 VAR_030774 Q9NWH7:p.Arg333Trp SP substitution exon 1 VAR_030775 Q9NWH7:p.Cys478Tyr SP substitution exon 1 VAR_030776 Q96N96:p.Arg20Trp SP substitution exon 1 VAR_030777 Q8TB22:p.Gln88Glu SP substitution exon 1 VAR_030781 Q5TCZ1:p.Lys659Gln SP substitution exon 1 VAR_030782 Q5TCZ1:p.Arg1035Gln SP substitution exon 1 VAR_030783 O95218:p.Arg207Gly SP substitution exon 1 VAR_030784 P51800:p.Met67Ile SP substitution exon 1 VAR_030785 P06028:p.Ser84Thr SP substitution exon 1 VAR_030786 Q9UJ72:p.Met71Leu SP substitution exon 1 VAR_030787 Q9UBP4:p.Arg335Gly SP substitution exon 1 VAR_030788 Q9NQT4:p.Thr5Met SP substitution exon 1 VAR_030789 O75665:p.Ala79Thr SP substitution exon 1 VAR_030794 Q5T440:p.Gly211Ser SP substitution exon 1 VAR_030795 Q96G28:p.Asp243Gly SP substitution exon 1 VAR_030796 Q96G28:p.Ile246Phe SP substitution exon 1 VAR_030797 Q9UGN4:p.Arg111Gln SP substitution exon 1 VAR_030798 Q9UDY2:p.Asp482Glu SP substitution exon 1 VAR_030799 P52569:p.Val20Met SP substitution exon 1 VAR_030800 P52569:p.Cys376Phe SP substitution exon 1 VAR_030801 P52569:p.Ala531Thr SP substitution exon 1 VAR_030802 O15254:p.Glu34Ala SP substitution exon 1 VAR_030803 O15254:p.Asp497Asn SP substitution exon 1 VAR_030804 Q9Y6B7:p.Leu480Ser SP substitution exon 1 VAR_030805 P51826:p.Ser358Asn SP substitution exon 1 VAR_030806 P51826:p.Asn494Ser SP substitution exon 1 VAR_030807 O60840:p.Pro14Leu SP substitution exon 1 VAR_030808 O60840:p.Cys74Arg SP substitution exon 1 VAR_030809 O60840:p.Gly150Arg SP substitution exon 1 VAR_030810 O60840:p.Ser229Pro SP substitution exon 1 VAR_030811 O60840:p.Gly261Arg SP substitution exon 1 VAR_030812 O60840:p.Val635Ile SP substitution exon 1 VAR_030813 O60840:p.Gly674Asp SP substitution exon 1 VAR_030814 O60840:p.Phe753Cys SP substitution exon 1 VAR_030815 O60840:p.Ile756Thr SP substitution exon 1 VAR_030816 O60840:p.Leu860Pro SP substitution exon 1 VAR_030817 O60840:p.Ala928Asp SP substitution exon 1 VAR_030818 O60840:p.Gly1018Arg SP substitution exon 1 VAR_030819 O60840:p.Leu1079Pro SP substitution exon 1 VAR_030820 O60840:p.Cys1499Arg SP substitution exon 1 VAR_030821 O60840:p.Pro1500Arg SP substitution exon 1 VAR_030822 O60840:p.Leu1508Pro SP substitution exon 1 VAR_030823 P53701:p.Arg217Cys SP substitution exon 1 VAR_030824 O60443:p.Pro142Thr SP substitution exon 1 VAR_030825 O60443:p.Val207Met SP substitution exon 1 VAR_030826 P13796:p.Pro544Ala SP substitution exon 1 VAR_030827 Q9UQV4:p.Glu32Gly SP substitution exon 1 VAR_030828 Q9UPR3:p.Asn1004Asp SP substitution exon 1 VAR_030829 Q8WUM0:p.Thr106Pro SP substitution exon 1 VAR_030830 Q8WUM0:p.Ile294Val SP substitution exon 1 VAR_030831 Q8WUM0:p.Gln406Arg SP substitution exon 1 VAR_030832 Q5U5Q3:p.Thr412Pro SP substitution exon 1 VAR_030833 Q8IZU8:p.Pro673Ser SP substitution exon 1 VAR_030834 Q8IZU8:p.Tyr730Cys SP substitution exon 1 VAR_030835 Q3KP66:p.Arg538Cys SP substitution exon 1 VAR_030836 Q9BZE2:p.Tyr3Asp SP substitution exon 1 VAR_030837 Q9BZE2:p.Ala46Ser SP substitution exon 1 VAR_030838 Q9BZE2:p.Glu460Asp SP substitution exon 1 VAR_030839 O14905:p.Met106Thr SP substitution exon 1 VAR_030840 O14965:p.Gly11Arg SP substitution exon 1 VAR_030841 O14965:p.Phe31Ile SP substitution exon 1 VAR_030842 O14965:p.Val57Ile SP substitution exon 1 VAR_030843 O15037:p.Lys261Thr SP substitution exon 1 VAR_030844 O15037:p.Trp270Leu SP substitution exon 1 VAR_030845 O15229:p.Arg452Cys SP substitution exon 1 VAR_030846 O15182:p.Val10Leu SP substitution exon 1 VAR_030847 O15230:p.Val889Met SP substitution exon 1 VAR_030848 O15230:p.Met1258Thr SP substitution exon 1 VAR_030849 O15230:p.Lys1367Glu SP substitution exon 1 VAR_030850 O15230:p.Gly1434Ala SP substitution exon 1 VAR_030851 O15230:p.Arg1667Trp SP substitution exon 1 VAR_030852 O15230:p.His1717Tyr SP substitution exon 1 VAR_030853 O15230:p.Phe1807Ser SP substitution exon 1 VAR_030854 O15230:p.Val1900Met SP substitution exon 1 VAR_030855 O15230:p.Ala1908Thr SP substitution exon 1 VAR_030856 O15230:p.His2036Arg SP substitution exon 1 VAR_030857 O15230:p.Arg2053His SP substitution exon 1 VAR_030858 O15230:p.Asp2062Asn SP substitution exon 1 VAR_030859 O15230:p.Arg2226His SP substitution exon 1 VAR_030860 O15230:p.Arg3079Trp SP substitution exon 1 VAR_030861 Q8IUA0:p.Asn137Ser SP substitution exon 1 VAR_030862 Q9P2G1:p.Leu1016Met SP substitution exon 1 VAR_030863 Q5VW38:p.Ala189Pro SP substitution exon 1 VAR_030864 Q9UJW8:p.Ala41Val SP substitution exon 1 VAR_030865 Q9UJW8:p.Trp89Cys SP substitution exon 1 VAR_030866 Q9UJW8:p.Cys272Ser SP substitution exon 1 VAR_030867 Q1AE95:p.Met193Val SP substitution exon 1 VAR_030868 Q5T197:p.Met512Leu SP substitution exon 1 VAR_030869 Q6ZNB6:p.Pro246Leu SP substitution exon 1 VAR_030870 Q96S44:p.Thr129Ala SP substitution exon 1 VAR_030872 P17858:p.Asp237Val SP substitution exon 1 VAR_030873 Q96MA6:p.Ile5Thr SP substitution exon 1 VAR_030874 Q96MA6:p.Asp130Gly SP substitution exon 1 VAR_030875 Q8IYK2:p.Asp434Glu SP substitution exon 1 VAR_030876 Q8IYK2:p.Ser444Thr SP substitution exon 1 VAR_030877 Q8IYK2:p.Pro499Thr SP substitution exon 1 VAR_030878 Q96LW4:p.Gln168Arg SP substitution exon 1 VAR_030880 Q9H0I3:p.Asp4Glu SP substitution exon 1 VAR_030881 Q9H0I3:p.Ser6Thr SP substitution exon 1 VAR_030882 Q96HA8:p.Ile32Val SP substitution exon 1 VAR_030883 Q96HA8:p.Asn93Ser SP substitution exon 1 VAR_030884 Q96HA8:p.Phe116Ile SP substitution exon 1 VAR_030885 Q96HA8:p.Arg134Cys SP substitution exon 1 VAR_030886 Q6NXR4:p.Glu63Gly SP substitution exon 1 VAR_030888 Q96CB5:p.Gln131Arg SP substitution exon 1 VAR_030889 Q96CB5:p.Phe148Ser SP substitution exon 1 VAR_030890 Q9P1V8:p.Leu18Pro SP substitution exon 1 VAR_030891 Q9P1V8:p.Lys370Glu SP substitution exon 1 VAR_030892 Q9P1V8:p.Lys454Glu SP substitution exon 1 VAR_030893 Q6P387:p.Thr77Ser SP substitution exon 1 VAR_030894 Q6P387:p.Ile288Thr SP substitution exon 1 VAR_030895 Q6P387:p.Tyr335His SP substitution exon 1 VAR_030896 Q6P387:p.Lys357Glu SP substitution exon 1 VAR_030897 Q6P387:p.Pro388Ser SP substitution exon 1 VAR_030898 Q8IY82:p.Cys186Ser SP substitution exon 1 VAR_030899 Q8IY82:p.Pro433Leu SP substitution exon 1 VAR_030900 Q8IY82:p.Asn581Lys SP substitution exon 1 VAR_030901 Q8IY82:p.Cys766Arg SP substitution exon 1 VAR_030902 Q2M2W7:p.Ile92Val SP substitution exon 1 VAR_030903 Q32NC0:p.Thr132Ala SP substitution exon 1 VAR_030904 Q5T0L3:p.Ala69Val SP substitution exon 1 VAR_030905 Q5T0L3:p.Arg217His SP substitution exon 1 VAR_030906 Q9NSG2:p.Ala481Ser SP substitution exon 1 VAR_030907 Q5TID7:p.Phe172Ser SP substitution exon 1 VAR_030908 Q96M02:p.Arg134His SP substitution exon 1 VAR_030909 Q96M02:p.Asp262Asn SP substitution exon 1 VAR_030910 Q8N6K7:p.Glu94Lys SP substitution exon 1 VAR_030911 Q8IVG5:p.Val266Ile SP substitution exon 1 VAR_030912 Q8IVG5:p.Phe289Ser SP substitution exon 1 VAR_030913 Q8IVG5:p.Gly1137Ala SP substitution exon 1 VAR_030914 Q8IVG5:p.Asn1516Thr SP substitution exon 1 VAR_030915 Q6ZMJ2:p.Asp316His SP substitution exon 1 VAR_030916 Q5W0Q7:p.Glu173Gly SP substitution exon 1 VAR_030917 Q5W0Q7:p.Pro384Ser SP substitution exon 1 VAR_030918 Q5W0Q7:p.Ala522Pro SP substitution exon 1 VAR_030919 Q5W0Q7:p.Leu531Ser SP substitution exon 1 VAR_030920 Q5W0Q7:p.Ser739Cys SP substitution exon 1 VAR_030923 Q96B96:p.Gly107Ser SP substitution exon 1 VAR_030924 Q96B96:p.Glu154Asp SP substitution exon 1 VAR_030925 Q12802:p.Met452Thr SP substitution exon 1 VAR_030926 Q12802:p.Trp494Arg SP substitution exon 1 VAR_030927 Q12802:p.Arg574Cys SP substitution exon 1 VAR_030928 Q12802:p.Gly624Val SP substitution exon 1 VAR_030929 Q12802:p.Glu689Lys SP substitution exon 1 VAR_030930 Q12802:p.Val845Ala SP substitution exon 1 VAR_030931 Q12802:p.Val897Met SP substitution exon 1 VAR_030932 Q12802:p.Pro1062Ala SP substitution exon 1 VAR_030933 Q12802:p.Asp1086Asn SP substitution exon 1 VAR_030934 Q12802:p.Met1216Thr SP substitution exon 1 VAR_030935 Q12802:p.Gly2457Ser SP substitution exon 1 VAR_030936 Q12802:p.Ala2801Thr SP substitution exon 1 VAR_030937 P54259:p.Met339Ile SP substitution exon 1 VAR_030939 Q8NHJ6:p.Lys362Thr SP substitution exon 1 VAR_030940 Q96NB3:p.Ile16Val SP substitution exon 1 VAR_030941 Q96NB3:p.Ser93Pro SP substitution exon 1 VAR_030942 Q96NB3:p.Phe135Leu SP substitution exon 1 VAR_030943 O60678:p.Ser470Cys SP substitution exon 1 VAR_030944 Q01955:p.Leu141Pro SP substitution exon 1 VAR_030945 Q01955:p.Gly532Asp SP substitution exon 1 VAR_030946 Q01955:p.Gly739Arg SP substitution exon 1 VAR_030947 Q01955:p.Gly853Arg SP substitution exon 1 VAR_030948 Q01955:p.Gly985Val SP substitution exon 1 VAR_030949 Q01955:p.Gly1015Glu SP substitution exon 1 VAR_030950 Q01955:p.Gly1216Arg SP substitution exon 1 VAR_030951 O60496:p.Ala152Pro SP substitution exon 1 VAR_030953 Q96F07:p.Lys320Glu SP substitution exon 1 VAR_030954 P11177:p.Tyr132Cys SP substitution exon 1 VAR_030955 Q9HC23:p.Gly32Arg SP substitution exon 1 VAR_030956 Q9HC23:p.Arg73Cys SP substitution exon 1 VAR_030957 Q8NFJ6:p.Arg85Cys SP substitution exon 1 VAR_030958 Q8NFJ6:p.Arg85His SP substitution exon 1 VAR_030959 Q8NFJ6:p.Arg164Gln SP substitution exon 1 VAR_030960 Q8NFJ6:p.Leu173Arg SP substitution exon 1 VAR_030961 Q8NFJ6:p.Trp178Ser SP substitution exon 1 VAR_030962 Q8NFJ6:p.Gln210Arg SP substitution exon 1 VAR_030963 Q8NFJ6:p.Arg268Cys SP substitution exon 1 VAR_030964 Q8NFJ6:p.Pro290Ser SP substitution exon 1 VAR_030965 Q8NFJ6:p.Met323Ile SP substitution exon 1 VAR_030966 Q8NFJ6:p.Val331Met SP substitution exon 1 VAR_030967 Q8NFJ6:p.Thr335Met SP substitution exon 1 VAR_030968 P11362:p.Gly48Ser SP substitution exon 1 VAR_030969 P11362:p.Asn77Lys SP substitution exon 1 VAR_030970 P11362:p.Arg78Cys SP substitution exon 1 VAR_030971 P11362:p.Cys101Phe SP substitution exon 1 VAR_030972 P11362:p.Val102Ile SP substitution exon 1 VAR_030973 P11362:p.Asp129Ala SP substitution exon 1 VAR_030974 P11362:p.Cys178Ser SP substitution exon 1 VAR_030975 P11362:p.Trp213Gly SP substitution exon 1 VAR_030976 P11362:p.Asp224His SP substitution exon 1 VAR_030977 P11362:p.Gly237Asp SP substitution exon 1 VAR_030978 P11362:p.Gly237Ser SP substitution exon 1 VAR_030979 P11362:p.Leu245Pro SP substitution exon 1 VAR_030980 P11362:p.Arg250Trp SP substitution exon 1 VAR_030981 P11362:p.Arg254Gln SP substitution exon 1 VAR_030982 P11362:p.Gly270Asp SP substitution exon 1 VAR_030983 P11362:p.Val273Met SP substitution exon 1 VAR_030984 P11362:p.Glu274Gly SP substitution exon 1 VAR_030985 P11362:p.Pro283Arg SP substitution exon 1 VAR_030986 P11362:p.Ile300Thr SP substitution exon 1 VAR_030987 P11362:p.Asn330Ile SP substitution exon 1 VAR_030988 P11362:p.Ser332Cys SP substitution exon 1 VAR_030989 P11362:p.Tyr339Cys SP substitution exon 1 VAR_030990 P11362:p.Ala343Val SP substitution exon 1 VAR_030991 P11362:p.Ser346Cys SP substitution exon 1 VAR_030992 P11362:p.Pro366Leu SP substitution exon 1 VAR_030993 P11362:p.Tyr374Cys SP substitution exon 1 VAR_030994 P11362:p.Cys381Arg SP substitution exon 1 VAR_030995 P11362:p.Ala520Thr SP substitution exon 1 VAR_030996 P11362:p.Ile538Val SP substitution exon 1 VAR_030997 P11362:p.His621Arg SP substitution exon 1 VAR_030998 P11362:p.Arg622Gly SP substitution exon 1 VAR_030999 P11362:p.Arg622Gln SP substitution exon 1 VAR_031000 P11362:p.Ser685Phe SP substitution exon 1 VAR_031001 P11362:p.Gly687Arg SP substitution exon 1 VAR_031002 P11362:p.Ile693Phe SP substitution exon 1 VAR_031003 P11362:p.Gly703Arg SP substitution exon 1 VAR_031004 P11362:p.Gly703Ser SP substitution exon 1 VAR_031005 P11362:p.Pro722His SP substitution exon 1 VAR_031006 P11362:p.Pro722Ser SP substitution exon 1 VAR_031007 P11362:p.Asn724Lys SP substitution exon 1 VAR_031008 P11362:p.Pro745Ser SP substitution exon 1 VAR_031009 P11362:p.Leu769Val SP substitution exon 1 VAR_031010 P11362:p.Val795Ile SP substitution exon 1 VAR_031012 P23352:p.Cys163Tyr SP substitution exon 1 VAR_031013 P23352:p.Cys172Arg SP substitution exon 1 VAR_031014 P23352:p.Arg262Pro SP substitution exon 1 VAR_031015 P23352:p.Asn304Ser SP substitution exon 1 VAR_031016 P23352:p.Ser396Leu SP substitution exon 1 VAR_031017 P23352:p.Phe517Leu SP substitution exon 1 VAR_031018 P23352:p.Trp571Arg SP substitution exon 1 VAR_031019 P23352:p.Lys666Met SP substitution exon 1 VAR_031020 P23352:p.Arg668His SP substitution exon 1 VAR_031021 Q99259:p.Ser12Cys SP substitution exon 1 VAR_031022 Q8TD46:p.Glu312Gln SP substitution exon 1 VAR_031024 Q15475:p.Arg110Trp SP substitution exon 1 VAR_031025 Q15475:p.Tyr129Cys SP substitution exon 1 VAR_031027 P03971:p.His506Gln SP substitution exon 1 VAR_031028 P03971:p.Cys525Tyr SP substitution exon 1 VAR_031029 Q15436:p.Leu211Val SP substitution exon 1 VAR_031030 Q15436:p.Phe382Leu SP substitution exon 1 VAR_031032 Q96HP8:p.Thr122Ala SP substitution exon 1 VAR_031033 Q96HP8:p.Leu187Phe SP substitution exon 1 VAR_031034 Q96HP8:p.Thr208Ala SP substitution exon 1 VAR_031035 Q3YBM2:p.Pro55Ser SP substitution exon 1 VAR_031036 Q3YBM2:p.Thr70Ala SP substitution exon 1 VAR_031037 Q3YBM2:p.Ser94Arg SP substitution exon 1 VAR_031038 Q3YBM2:p.Ala134Thr SP substitution exon 1 VAR_031039 Q3YBM2:p.Arg180Trp SP substitution exon 1 VAR_031040 Q9H2F3:p.Thr250Ala SP substitution exon 1 VAR_031042 Q9UM73:p.Ile1461Val SP substitution exon 1 VAR_031043 Q9UM73:p.Lys1491Arg SP substitution exon 1 VAR_031044 Q9UM73:p.Asp1529Glu SP substitution exon 1 VAR_031045 Q9H2K0:p.Thr68Ile SP substitution exon 1 VAR_031046 Q9H2K0:p.Phe243Leu SP substitution exon 1 VAR_031047 Q9P126:p.Ile20Val SP substitution exon 1 VAR_031048 Q9P126:p.Ser24Pro SP substitution exon 1 VAR_031049 Q9P126:p.Ser28Phe SP substitution exon 1 VAR_031050 Q9P126:p.Gly64Asp SP substitution exon 1 VAR_031051 Q6P1W5:p.Gln235Glu SP substitution exon 1 VAR_031052 Q6P1W5:p.Asp302Glu SP substitution exon 1 VAR_031053 Q9NY74:p.Met221Thr SP substitution exon 1 VAR_031054 Q9NY74:p.Ser389Asn SP substitution exon 1 VAR_031055 Q9NY74:p.Pro715Leu SP substitution exon 1 VAR_031056 Q9NY74:p.Pro771Ser SP substitution exon 1 VAR_031058 O15078:p.Lys838Glu SP substitution exon 1 VAR_031059 O15078:p.Leu906Trp SP substitution exon 1 VAR_031060 O15078:p.Arg1237His SP substitution exon 1 VAR_031062 Q8NEA6:p.Pro301Gln SP substitution exon 1 VAR_031063 Q03252:p.Arg215Gln SP substitution exon 1 VAR_031064 Q03252:p.Ala407Thr SP substitution exon 1 VAR_031065 Q2KHM9:p.His201Gln SP substitution exon 1 VAR_031066 Q2KHM9:p.Glu375Asp SP substitution exon 1 VAR_031067 Q2KHM9:p.Glu375Gly SP substitution exon 1 VAR_031068 Q2KHM9:p.Asp444Asn SP substitution exon 1 VAR_031069 Q2KHM9:p.Leu466Pro SP substitution exon 1 VAR_031070 Q2KHM9:p.Val501Met SP substitution exon 1 VAR_031071 Q2KHM9:p.Pro566Leu SP substitution exon 1 VAR_031073 Q9Y4B5:p.Gln861Arg SP substitution exon 1 VAR_031074 Q9Y4B5:p.Asp898Gly SP substitution exon 1 VAR_031075 Q9Y4B5:p.Gly1097Ser SP substitution exon 1 VAR_031076 Q9Y4B5:p.Lys1211Gln SP substitution exon 1 VAR_031077 Q9Y616:p.Ile270Val SP substitution exon 1 VAR_031078 Q04760:p.Cys19Tyr SP substitution exon 1 VAR_031079 P51843:p.Leu278Pro SP substitution exon 1 VAR_031080 P51843:p.Trp291Cys SP substitution exon 1 VAR_031081 P51843:p.Leu297Pro SP substitution exon 1 VAR_031082 P35908:p.Glu465Asp SP substitution exon 1 VAR_031083 P35908:p.Glu465Lys SP substitution exon 1 VAR_031084 P35908:p.Glu476Val SP substitution exon 1 VAR_031085 P35908:p.Ile477Asn SP substitution exon 1 VAR_031086 P35908:p.Glu488Lys SP substitution exon 1 VAR_031087 Q96SE0:p.Asp137Glu SP substitution exon 1 VAR_031088 Q96SE0:p.Trp371Cys SP substitution exon 1 VAR_031089 Q8WU67:p.Arg3Cys SP substitution exon 1 VAR_031090 Q6DN72:p.Ser427Gly SP substitution exon 1 VAR_031091 P06731:p.Ala340Asp SP substitution exon 1 VAR_031092 P06731:p.Arg664Ser SP substitution exon 1 VAR_031093 Q7Z3V5:p.Lys593Glu SP substitution exon 1 VAR_031094 Q9UNM6:p.Gly204Glu SP substitution exon 1 VAR_031095 Q9UNM6:p.Leu205Phe SP substitution exon 1 VAR_031096 Q9NWK9:p.Gly9Arg SP substitution exon 1 VAR_031097 Q86XL3:p.His122Tyr SP substitution exon 1 VAR_031098 Q86XL3:p.Gln148Glu SP substitution exon 1 VAR_031099 Q86XL3:p.Arg720His SP substitution exon 1 VAR_031102 Q96GY0:p.Thr156Ala SP substitution exon 1 VAR_031103 Q969Y2:p.Val250Ala SP substitution exon 1 VAR_031104 Q969Y2:p.Arg368His SP substitution exon 1 VAR_031108 Q6UWV2:p.Met155Val SP substitution exon 1 VAR_031109 Q6UWV2:p.Asp228Val SP substitution exon 1 VAR_031110 Q8NBM8:p.Ala5Pro SP substitution exon 1 VAR_031113 Q8N394:p.Ala315Thr SP substitution exon 1 VAR_031114 Q8N394:p.Tyr443Ser SP substitution exon 1 VAR_031117 Q5T4D3:p.Val286Met SP substitution exon 1 VAR_031118 Q5T4D3:p.Val419Ile SP substitution exon 1 VAR_031119 Q96BZ4:p.Glu27Gln SP substitution exon 1 VAR_031120 Q96BZ4:p.Val135Met SP substitution exon 1 VAR_031121 Q96FE7:p.Thr251Ser SP substitution exon 1 VAR_031122 Q00LT1:p.Cys2Tyr SP substitution exon 1 VAR_031123 Q00LT1:p.Arg17Cys SP substitution exon 1 VAR_031124 Q00LT1:p.Val30Met SP substitution exon 1 VAR_031125 Q6NVU6:p.Leu47Val SP substitution exon 1 VAR_031126 Q9NUQ7:p.Asn83Thr SP substitution exon 1 VAR_031127 P11597:p.Val455Met SP substitution exon 1 VAR_031129 Q2M2I8:p.Lys509Gln SP substitution exon 1 VAR_031130 Q96AQ9:p.Lys48Glu SP substitution exon 1 VAR_031131 Q96AQ9:p.Arg107Gln SP substitution exon 1 VAR_031132 Q96AQ9:p.Pro123Arg SP substitution exon 1 VAR_031133 Q96AQ9:p.Ser215Ile SP substitution exon 1 VAR_031134 Q96AQ9:p.Glu226Asp SP substitution exon 1 VAR_031135 Q2VY69:p.Lys546Glu SP substitution exon 1 VAR_031138 Q86Y25:p.Glu250Lys SP substitution exon 1 VAR_031139 Q86Y25:p.Phe546Leu SP substitution exon 1 VAR_031140 Q86Y25:p.Glu553Lys SP substitution exon 1 VAR_031141 Q5VIY5:p.His374Arg SP substitution exon 1 VAR_031143 Q6ECI4:p.Val23Leu SP substitution exon 1 VAR_031144 Q6ECI4:p.Lys254Arg SP substitution exon 1 VAR_031145 Q6ECI4:p.Thr418Ile SP substitution exon 1 VAR_031146 Q6S9Z5:p.Arg173His SP substitution exon 1 VAR_031147 Q6P280:p.Val98Leu SP substitution exon 1 VAR_031148 Q9ULD9:p.Thr721Asn SP substitution exon 1 VAR_031149 Q08AN1:p.His451Arg SP substitution exon 1 VAR_031150 Q7L3S4:p.Asp207Asn SP substitution exon 1 VAR_031151 Q9UGM1:p.Arg96Gln SP substitution exon 1 VAR_031153 Q7Z5H3:p.Thr410Lys SP substitution exon 1 VAR_031154 Q7Z5H3:p.Arg612Cys SP substitution exon 1 VAR_031155 Q9P2N2:p.Thr190Ser SP substitution exon 1 VAR_031157 Q7Z6I6:p.Phe70Leu SP substitution exon 1 VAR_031158 Q7Z6I6:p.Leu591Val SP substitution exon 1 VAR_031159 Q17R89:p.Val463Met SP substitution exon 1 VAR_031160 Q9BXG8:p.Val17Leu SP substitution exon 1 VAR_031161 Q9BXG8:p.Glu302Lys SP substitution exon 1 VAR_031162 Q504Q3:p.Ser32Asn SP substitution exon 1 VAR_031163 Q504Q3:p.Ile179Leu SP substitution exon 1 VAR_031164 O95197:p.Ala6Glu SP substitution exon 1 VAR_031165 Q8IUD6:p.His71Gln SP substitution exon 1 VAR_031166 Q8IUD6:p.Ser108Pro SP substitution exon 1 VAR_031167 Q70EL2:p.Lys67Glu SP substitution exon 1 VAR_031169 Q9Y314:p.Thr168Met SP substitution exon 1 VAR_031170 Q7Z3E5:p.Leu108Phe SP substitution exon 1 VAR_031171 Q7Z3E5:p.Ile209Thr SP substitution exon 1 VAR_031172 Q7Z3E5:p.Arg222His SP substitution exon 1 VAR_031173 Q9BWS9:p.Arg331Gln SP substitution exon 1 VAR_031174 Q9BWS9:p.Ala338Val SP substitution exon 1 VAR_031175 Q7Z6M1:p.Arg60Gly SP substitution exon 1 VAR_031176 Q7Z6M1:p.Thr67Pro SP substitution exon 1 VAR_031177 Q7Z6M1:p.His73Tyr SP substitution exon 1 VAR_031178 Q7Z6M1:p.Asp313Gly SP substitution exon 1 VAR_031179 Q7Z6M1:p.Met333Ile SP substitution exon 1 VAR_031180 Q8IYU2:p.Arg17His SP substitution exon 1 VAR_031181 Q8IYU2:p.Ile374Thr SP substitution exon 1 VAR_031182 Q9BSE4:p.Ala108Thr SP substitution exon 1 VAR_031183 Q9BSE4:p.His200Leu SP substitution exon 1 VAR_031185 Q6ZNA4:p.Asn9Lys SP substitution exon 1 VAR_031186 P28290:p.Arg833Trp SP substitution exon 1 VAR_031187 P28290:p.Pro836Leu SP substitution exon 1 VAR_031189 Q14997:p.Ile872Val SP substitution exon 1 VAR_031191 O94886:p.Val622Met SP substitution exon 1 VAR_031192 Q5T3F8:p.Val307Met SP substitution exon 1 VAR_031193 Q9P1W3:p.Met654Val SP substitution exon 1 VAR_031194 Q9NUJ1:p.Ile251Val SP substitution exon 1 VAR_031195 O15069:p.Asp438Glu SP substitution exon 1 VAR_031196 O15069:p.Val498Ala SP substitution exon 1 VAR_031197 O15069:p.Lys591Glu SP substitution exon 1 VAR_031198 O15069:p.Asp1105Glu SP substitution exon 1 VAR_031199 O15069:p.Cys1152Phe SP substitution exon 1 VAR_031200 Q8TC20:p.Thr169Ile SP substitution exon 1 VAR_031201 Q8TC20:p.Glu282Ala SP substitution exon 1 VAR_031202 Q6PJG6:p.Arg20Gly SP substitution exon 1 VAR_031203 P08910:p.Arg253Gln SP substitution exon 1 VAR_031204 P48052:p.Glu82Gly SP substitution exon 1 VAR_031205 Q8TE02:p.Asp303Tyr SP substitution exon 1 VAR_031206 Q8NHY5:p.His130Gln SP substitution exon 1 VAR_031207 Q8NHY5:p.Gln201Arg SP substitution exon 1 VAR_031208 Q8NCF5:p.Arg33Trp SP substitution exon 1 VAR_031209 Q8NAT2:p.Met104Thr SP substitution exon 1 VAR_031210 Q8NAT2:p.Lys358Glu SP substitution exon 1 VAR_031212 O76027:p.Arg225Gln SP substitution exon 1 VAR_031213 P00747:p.Val676Asp SP substitution exon 1 VAR_031214 O95757:p.Asn216Thr SP substitution exon 1 VAR_031215 Q9HAD4:p.Gly61Asp SP substitution exon 1 VAR_031216 Q9HAD4:p.Arg260Cys SP substitution exon 1 VAR_031217 O75164:p.Val877Gly SP substitution exon 1 VAR_031218 P29474:p.Arg112Gln SP substitution exon 1 VAR_031219 P29474:p.Val827Met SP substitution exon 1 VAR_031220 P29474:p.Arg885Met SP substitution exon 1 VAR_031221 P29474:p.Gln982Leu SP substitution exon 1 VAR_031222 Q9NYH9:p.Lys35Arg SP substitution exon 1 VAR_031223 Q86X45:p.Ile466Thr SP substitution exon 1 VAR_031224 O15488:p.Arg373Cys SP substitution exon 1 VAR_031225 Q96RD7:p.Ile272Val SP substitution exon 1 VAR_031226 Q9BYX4:p.His460Arg SP substitution exon 1 VAR_031227 O43734:p.Arg83Trp SP substitution exon 1 VAR_031228 Q8IY85:p.Val312Ile SP substitution exon 1 VAR_031229 Q8IY85:p.Met617Val SP substitution exon 1 VAR_031230 Q5VST6:p.Gln169Lys SP substitution exon 1 VAR_031231 Q6ZMZ3:p.Thr668Met SP substitution exon 1 VAR_031232 Q6ZMZ3:p.Arg864His SP substitution exon 1 VAR_031233 Q6ZMZ3:p.Ala923Val SP substitution exon 1 VAR_031234 Q6ZMZ3:p.Ile946Val SP substitution exon 1 VAR_031235 Q8IUS5:p.Tyr321Phe SP substitution exon 1 VAR_031236 O60603:p.Arg677Trp SP substitution exon 1 VAR_031237 O60603:p.Arg753Gln SP substitution exon 1 VAR_031238 Q8N6F1:p.Leu13Phe SP substitution exon 1 VAR_031239 Q8N6F1:p.Gly20Asp SP substitution exon 1 VAR_031240 Q8N6F1:p.Gln57Glu SP substitution exon 1 VAR_031241 Q8N6F1:p.Leu90Pro SP substitution exon 1 VAR_031242 Q00266:p.Ser38Asn SP substitution exon 1 VAR_031243 Q00266:p.Arg264Cys SP substitution exon 1 VAR_031244 Q00266:p.Gly336Arg SP substitution exon 1 VAR_031245 Q00266:p.Glu344Ala SP substitution exon 1 VAR_031246 Q18PE1:p.Arg158Gln SP substitution exon 1 VAR_031247 Q8IXB1:p.Asp76Asn SP substitution exon 1 VAR_031248 Q8IXB1:p.Tyr414Cys SP substitution exon 1 VAR_031249 Q8IXB1:p.His646Gln SP substitution exon 1 VAR_031250 Q9NZM1:p.Tyr1198Phe SP substitution exon 1 VAR_031251 Q9NZM1:p.Arg1399Cys SP substitution exon 1 VAR_031252 Q9NZM1:p.Arg1783Gln SP substitution exon 1 VAR_031253 O14638:p.Ser786Asn SP substitution exon 1 VAR_031254 Q8N0W7:p.Ala142Val SP substitution exon 1 VAR_031255 O00763:p.Ile552Val SP substitution exon 1 VAR_031256 O00763:p.Ala651Thr SP substitution exon 1 VAR_031257 O00763:p.Val2141Ile SP substitution exon 1 VAR_031258 Q8IWU4:p.Arg325Gln SP substitution exon 1 VAR_031259 Q8IWU4:p.Arg325Trp SP substitution exon 1 VAR_031260 Q13562:p.Pro197His SP substitution exon 1 VAR_031261 O95498:p.Val30Ala SP substitution exon 1 VAR_031262 P15144:p.Val20Met SP substitution exon 1 VAR_031263 P15144:p.Ala311Val SP substitution exon 1 VAR_031264 P15144:p.Thr321Met SP substitution exon 1 VAR_031265 P15144:p.Ile603Lys SP substitution exon 1 VAR_031266 P15144:p.Ile603Met SP substitution exon 1 VAR_031267 P50281:p.Arg431His SP substitution exon 1 VAR_031280 Q6UYE1:p.Ala83Val SP substitution exon 1 VAR_031281 Q15047:p.Pro506Ser SP substitution exon 1 VAR_031282 Q96T68:p.Glu117Gly SP substitution exon 1 VAR_031283 Q6VMQ6:p.Glu278Lys SP substitution exon 1 VAR_031284 Q6VMQ6:p.Asn348Ile SP substitution exon 1 VAR_031285 Q6VMQ6:p.Lys530Arg SP substitution exon 1 VAR_031286 Q5U623:p.Thr537Ile SP substitution exon 1 VAR_031287 Q5U623:p.Ala543Thr SP substitution exon 1 VAR_031288 Q9NV66:p.Gly462Val SP substitution exon 1 VAR_031289 Q9NV66:p.His632Arg SP substitution exon 1 VAR_031290 Q9NV66:p.Asp671Asn SP substitution exon 1 VAR_031291 Q53H54:p.Trp28Arg SP substitution exon 1 VAR_031292 Q6IPR3:p.Arg110Gln SP substitution exon 1 VAR_031293 Q6IPR3:p.Met121Val SP substitution exon 1 VAR_031294 Q6IB77:p.Ser17Thr SP substitution exon 1 VAR_031295 Q6IB77:p.Asn156Ser SP substitution exon 1 VAR_031296 Q8WU03:p.Pro82Ser SP substitution exon 1 VAR_031297 Q8WU03:p.Glu160Lys SP substitution exon 1 VAR_031298 Q8WU03:p.Leu168Ile SP substitution exon 1 VAR_031299 O43379:p.Leu850Ser SP substitution exon 1 VAR_031300 O43379:p.Gly1370Ser SP substitution exon 1 VAR_031301 O43379:p.Leu1385Phe SP substitution exon 1 VAR_031302 Q7Z3V4:p.Arg346Gln SP substitution exon 1 VAR_031303 Q8N7J2:p.Ile659Met SP substitution exon 1 VAR_031304 Q5JTC6:p.Lys292Asn SP substitution exon 1 VAR_031305 P21333:p.Met102Val SP substitution exon 1 VAR_031306 P21333:p.Ala128Val SP substitution exon 1 VAR_031307 P21333:p.Ser149Phe SP substitution exon 1 VAR_031308 P21333:p.Asp203Tyr SP substitution exon 1 VAR_031309 P21333:p.Val528Met SP substitution exon 1 VAR_031310 P21333:p.Ser1012Leu SP substitution exon 1 VAR_031312 P21333:p.Gly1728Cys SP substitution exon 1 VAR_031313 Q68DN1:p.Arg357Gly SP substitution exon 1 VAR_031314 Q68DN1:p.Asp505Val SP substitution exon 1 VAR_031315 Q68DN1:p.Thr655Ser SP substitution exon 1 VAR_031316 Q68DN1:p.Ala660Glu SP substitution exon 1 VAR_031317 Q68DN1:p.Val685Ala SP substitution exon 1 VAR_031318 Q68DN1:p.Ile767Thr SP substitution exon 1 VAR_031319 Q68DN1:p.Ile774Val SP substitution exon 1 VAR_031320 Q68DN1:p.Ser1500Phe SP substitution exon 1 VAR_031321 Q68DN1:p.His1559Tyr SP substitution exon 1 VAR_031322 Q68DN1:p.Asn1613Ser SP substitution exon 1 VAR_031323 Q68DN1:p.Ser1665Pro SP substitution exon 1 VAR_031324 Q8NA72:p.His36Arg SP substitution exon 1 VAR_031325 Q8NA72:p.Ile85Thr SP substitution exon 1 VAR_031327 P12035:p.Arg503Pro SP substitution exon 1 VAR_031328 P50542:p.Ser600Trp SP substitution exon 1 VAR_031349 Q09428:p.Gly7Arg SP substitution exon 1 VAR_031350 Q09428:p.Val21Asp SP substitution exon 1 VAR_031351 Q09428:p.Phe27Ser SP substitution exon 1 VAR_031352 Q09428:p.Gly70Glu SP substitution exon 1 VAR_031353 Q09428:p.Arg74Trp SP substitution exon 1 VAR_031354 Q09428:p.Val86Ala SP substitution exon 1 VAR_031355 Q09428:p.Gly111Arg SP substitution exon 1 VAR_031356 Q09428:p.Ala116Pro SP substitution exon 1 VAR_031357 Q09428:p.Met233Arg SP substitution exon 1 VAR_031358 Q09428:p.Asp310Asn SP substitution exon 1 VAR_031359 Q09428:p.Cys418Arg SP substitution exon 1 VAR_031360 Q09428:p.Arg495Gln SP substitution exon 1 VAR_031361 Q09428:p.Glu501Lys SP substitution exon 1 VAR_031362 Q09428:p.Leu503Pro SP substitution exon 1 VAR_031363 Q09428:p.Leu508Pro SP substitution exon 1 VAR_031364 Q09428:p.Pro551Arg SP substitution exon 1 VAR_031365 Q09428:p.Arg620Cys SP substitution exon 1 VAR_031366 Q09428:p.Phe686Ser SP substitution exon 1 VAR_031367 Q09428:p.Lys719Thr SP substitution exon 1 VAR_031368 Q09428:p.Arg841Gly SP substitution exon 1 VAR_031369 Q09428:p.Lys889Thr SP substitution exon 1 VAR_031370 Q09428:p.Ser956Phe SP substitution exon 1 VAR_031371 Q09428:p.Thr1130Pro SP substitution exon 1 VAR_031372 Q09428:p.Leu1147Arg SP substitution exon 1 VAR_031373 Q09428:p.Arg1214Trp SP substitution exon 1 VAR_031374 Q09428:p.Asn1295Lys SP substitution exon 1 VAR_031375 Q09428:p.Lys1336Asn SP substitution exon 1 VAR_031376 Q09428:p.Gly1342Glu SP substitution exon 1 VAR_031377 Q09428:p.Leu1349Gln SP substitution exon 1 VAR_031378 Q09428:p.Lys1384Gln SP substitution exon 1 VAR_031379 Q09428:p.Ser1386Phe SP substitution exon 1 VAR_031380 Q09428:p.Gly1400Arg SP substitution exon 1 VAR_031381 Q09428:p.Arg1418His SP substitution exon 1 VAR_031382 Q09428:p.Leu1450Pro SP substitution exon 1 VAR_031383 Q09428:p.Ala1457Thr SP substitution exon 1 VAR_031384 Q09428:p.Asp1471His SP substitution exon 1 VAR_031385 Q09428:p.Asp1471Asn SP substitution exon 1 VAR_031386 Q09428:p.Arg1486Lys SP substitution exon 1 VAR_031387 Q09428:p.Arg1493Gln SP substitution exon 1 VAR_031388 Q09428:p.Val1550Asp SP substitution exon 1 VAR_031389 Q09428:p.Leu1551Val SP substitution exon 1 VAR_031390 Q9BUJ0:p.Arg32Gln SP substitution exon 1 VAR_031391 Q9BUJ0:p.Cys61Trp SP substitution exon 1 VAR_031392 O75369:p.Glu1179Lys SP substitution exon 1 VAR_031393 O75369:p.Val1471Met SP substitution exon 1 VAR_031394 Q99456:p.Arg135Ser SP substitution exon 1 VAR_031395 Q99456:p.Ala137Pro SP substitution exon 1 VAR_031397 Q99456:p.Ile426Ser SP substitution exon 1 VAR_031398 Q99456:p.Tyr429Cys SP substitution exon 1 VAR_031399 Q03701:p.Pro15Ser SP substitution exon 1 VAR_031400 Q03701:p.Lys303Arg SP substitution exon 1 VAR_031401 Q96BR5:p.Lys219Arg SP substitution exon 1 VAR_031402 Q7Z7A3:p.Ala107Val SP substitution exon 1 VAR_031403 Q7L8W6:p.Gly41Glu SP substitution exon 1 VAR_031404 Q7L8W6:p.Pro236Arg SP substitution exon 1 VAR_031405 Q5T686:p.Ala41Gly SP substitution exon 1 VAR_031406 Q8WV48:p.Ser190Phe SP substitution exon 1 VAR_031407 Q8WV48:p.Ile220Val SP substitution exon 1 VAR_031408 Q8WV48:p.Ser242Cys SP substitution exon 1 VAR_031409 Q6ZP29:p.Ser16Asn SP substitution exon 1 VAR_031410 Q4W5P6:p.Ala11Val SP substitution exon 1 VAR_031411 Q4KMZ1:p.Phe209Cys SP substitution exon 1 VAR_031412 Q4KMZ1:p.Cys217Tyr SP substitution exon 1 VAR_031414 Q8N6M8:p.Arg114Gln SP substitution exon 1 VAR_031415 Q9H095:p.Ala112Asp SP substitution exon 1 VAR_031417 Q2M389:p.Val323Leu SP substitution exon 1 VAR_031418 Q2M389:p.Val901Ile SP substitution exon 1 VAR_031419 Q96NU7:p.Ser3Gly SP substitution exon 1 VAR_031421 Q53S58:p.Gly29Ala SP substitution exon 1 VAR_031422 Q53S58:p.Ile32Val SP substitution exon 1 VAR_031423 Q53S58:p.Asp267Glu SP substitution exon 1 VAR_031424 Q5T1V6:p.Ile107Val SP substitution exon 1 VAR_031425 Q9Y615:p.Arg45Cys SP substitution exon 1 VAR_031426 Q8NEE6:p.Gly313Ala SP substitution exon 1 VAR_031427 Q8NEE6:p.Ile535Val SP substitution exon 1 VAR_031428 Q8NEE6:p.Tyr565Cys SP substitution exon 1 VAR_031429 Q8NEE6:p.Asp692Gly SP substitution exon 1 VAR_031430 Q6UW49:p.Leu133Phe SP substitution exon 1 VAR_031431 Q9H892:p.Met73Leu SP substitution exon 1 VAR_031432 Q9H892:p.Met468Leu SP substitution exon 1 VAR_031433 Q9HAZ2:p.Ser533Pro SP substitution exon 1 VAR_031434 Q9HAZ2:p.Pro633Leu SP substitution exon 1 VAR_031435 Q9NRK6:p.Asp545Asn SP substitution exon 1 VAR_031436 Q9NXK6:p.Ile24Thr SP substitution exon 1 VAR_031437 Q5SW79:p.Gly213Ser SP substitution exon 1 VAR_031439 Q96GQ5:p.Tyr185Cys SP substitution exon 1 VAR_031440 Q07092:p.Thr62Lys SP substitution exon 1 VAR_031441 Q711Q0:p.Asn208Lys SP substitution exon 1 VAR_031442 Q711Q0:p.His666Gln SP substitution exon 1 VAR_031445 Q08AF3:p.Pro787Leu SP substitution exon 1 VAR_031446 Q08AF3:p.Ala797Val SP substitution exon 1 VAR_031447 Q8IYM2:p.Ser43Arg SP substitution exon 1 VAR_031448 Q8IYM2:p.Cys168Arg SP substitution exon 1 VAR_031449 Q68D06:p.Asn4Ser SP substitution exon 1 VAR_031450 Q68D06:p.Ala50Thr SP substitution exon 1 VAR_031451 Q68D06:p.Glu652Lys SP substitution exon 1 VAR_031452 Q86W28:p.Pro25Leu SP substitution exon 1 VAR_031453 Q86W28:p.Val116Leu SP substitution exon 1 VAR_031454 Q86W28:p.Ala234Thr SP substitution exon 1 VAR_031455 Q86W28:p.Gln268Arg SP substitution exon 1 VAR_031456 Q86W28:p.Gln367Glu SP substitution exon 1 VAR_031457 Q86W28:p.Val782Ala SP substitution exon 1 VAR_031458 Q86W28:p.Lys937Arg SP substitution exon 1 VAR_031459 Q499Z3:p.Ala30Thr SP substitution exon 1 VAR_031460 Q499Z3:p.Arg128Ser SP substitution exon 1 VAR_031461 Q499Z3:p.Arg144Thr SP substitution exon 1 VAR_031462 Q13370:p.Ala87Val SP substitution exon 1 VAR_031463 Q04721:p.Val1667Phe SP substitution exon 1 VAR_031464 Q14679:p.Asn17Ser SP substitution exon 1 VAR_031465 Q14679:p.Glu34Gln SP substitution exon 1 VAR_031466 Q14679:p.Leu364Pro SP substitution exon 1 VAR_031467 Q14679:p.Gly518Ser SP substitution exon 1 VAR_031468 Q14679:p.Ser524Gly SP substitution exon 1 VAR_031469 Q14679:p.Ala852Ser SP substitution exon 1 VAR_031470 Q13126:p.Val56Ile SP substitution exon 1 VAR_031471 Q13201:p.Thr58Ala SP substitution exon 1 VAR_031472 Q13201:p.Thr805Ala SP substitution exon 1 VAR_031473 Q13201:p.Gly883Asp SP substitution exon 1 VAR_031474 Q13201:p.Thr964Arg SP substitution exon 1 VAR_031477 Q8NCI6:p.Arg163Pro SP substitution exon 1 VAR_031478 Q8NCI6:p.Val474Met SP substitution exon 1 VAR_031479 Q8N4Y2:p.Arg77Gln SP substitution exon 1 VAR_031480 Q8N4Y2:p.Lys153Glu SP substitution exon 1 VAR_031481 Q8N4Y2:p.Gly173Ser SP substitution exon 1 VAR_031482 Q8N4Y2:p.Ser248Ile SP substitution exon 1 VAR_031483 Q9BSW2:p.Arg7Gly SP substitution exon 1 VAR_031484 Q9BSW2:p.Ala98Thr SP substitution exon 1 VAR_031485 Q9BSW2:p.Ala128Val SP substitution exon 1 VAR_031486 Q9BSW2:p.His136Pro SP substitution exon 1 VAR_031487 Q9BSW2:p.Glu154Lys SP substitution exon 1 VAR_031488 Q9BSW2:p.His212Gln SP substitution exon 1 VAR_031489 Q9P2F6:p.Ala522Thr SP substitution exon 1 VAR_031490 Q9P2F6:p.Gly632Asp SP substitution exon 1 VAR_031491 Q6RI45:p.Lys1288Arg SP substitution exon 1 VAR_031492 Q7Z7L1:p.Val121Phe SP substitution exon 1 VAR_031493 Q7Z7L1:p.Asn301Asp SP substitution exon 1 VAR_031494 Q7Z7L1:p.Tyr822Cys SP substitution exon 1 VAR_031495 Q86XH1:p.Lys452Arg SP substitution exon 1 VAR_031496 Q9UBD6:p.Arg202Cys SP substitution exon 1 VAR_031497 Q9H310:p.Gly76Asp SP substitution exon 1 VAR_031498 Q9H310:p.Val143Asp SP substitution exon 1 VAR_031499 Q9H310:p.Gly315Arg SP substitution exon 1 VAR_031500 P00748:p.Arg142Pro SP substitution exon 1 VAR_031501 P00748:p.Thr328Lys SP substitution exon 1 VAR_031502 P00748:p.Thr328Arg SP substitution exon 1 VAR_031503 P00748:p.Ala411Thr SP substitution exon 1 VAR_031504 P00748:p.Leu414Met SP substitution exon 1 VAR_031505 P00748:p.Arg417Gln SP substitution exon 1 VAR_031506 P00748:p.Gln440Lys SP substitution exon 1 VAR_031507 P00748:p.Asp461Asn SP substitution exon 1 VAR_031508 P00748:p.Trp505Cys SP substitution exon 1 VAR_031509 P00748:p.Gly589Arg SP substitution exon 1 VAR_031510 Q7Z3Z2:p.Trp6Arg SP substitution exon 1 VAR_031511 Q7Z3Z2:p.Glu23Asp SP substitution exon 1 VAR_031512 Q7Z3Z2:p.Gly35Arg SP substitution exon 1 VAR_031513 Q7Z3Z2:p.Gly57Val SP substitution exon 1 VAR_031514 Q7Z3Z2:p.Arg68Trp SP substitution exon 1 VAR_031515 Q7Z3Z2:p.Lys130Met SP substitution exon 1 VAR_031516 Q7Z3Z2:p.Arg167Lys SP substitution exon 1 VAR_031517 Q7Z3Z2:p.Asp195Val SP substitution exon 1 VAR_031518 P06213:p.Leu120Gln SP substitution exon 1 VAR_031519 P06213:p.Arg279His SP substitution exon 1 VAR_031520 P06213:p.Gly386Ser SP substitution exon 1 VAR_031521 P06213:p.Asn458Asp SP substitution exon 1 VAR_031522 O14901:p.Gln62Arg SP substitution exon 1 VAR_031523 O14901:p.Thr220Met SP substitution exon 1 VAR_031524 O14901:p.Ala347Ser SP substitution exon 1 VAR_031525 Q9Y3D3:p.Tyr12His SP substitution exon 1 VAR_031526 Q5K651:p.Ile143Thr SP substitution exon 1 VAR_031527 Q5K651:p.Asn449Ser SP substitution exon 1 VAR_031528 Q5K651:p.Val549Leu SP substitution exon 1 VAR_031529 Q5K651:p.Lys1495Glu SP substitution exon 1 VAR_031530 P28347:p.Tyr421His SP substitution exon 1 VAR_031531 Q15582:p.Val113Ile SP substitution exon 1 VAR_031532 Q15582:p.Asp123His SP substitution exon 1 VAR_031533 Q15582:p.Leu269Phe SP substitution exon 1 VAR_031534 Q15582:p.Arg496Gly SP substitution exon 1 VAR_031535 Q15582:p.Val505Asp SP substitution exon 1 VAR_031536 Q15582:p.Leu509Arg SP substitution exon 1 VAR_031547 P06756:p.Val783Ile SP substitution exon 1 VAR_031552 P11274:p.Asn796Ser SP substitution exon 1 VAR_031555 P13521:p.Tyr61His SP substitution exon 1 VAR_031556 P13521:p.Asp294Gly SP substitution exon 1 VAR_031557 P13521:p.Arg421Gly SP substitution exon 1 VAR_031558 P13521:p.Asp535Gly SP substitution exon 1 VAR_031559 P13521:p.Pro564Leu SP substitution exon 1 VAR_031560 P16885:p.His244Arg SP substitution exon 1 VAR_031561 P16885:p.Arg268Trp SP substitution exon 1 VAR_031562 P23470:p.Gln639Arg SP substitution exon 1 VAR_031564 P29017:p.Asn70Thr SP substitution exon 1 VAR_031565 P29017:p.Phe300Ser SP substitution exon 1 VAR_031566 P29374:p.His412Pro SP substitution exon 1 VAR_031567 P29374:p.Asn724Ser SP substitution exon 1 VAR_031569 P29376:p.Arg42Gln SP substitution exon 1 VAR_031570 P30559:p.Ala16Ser SP substitution exon 1 VAR_031571 P30559:p.Ala218Thr SP substitution exon 1 VAR_031572 Q5U5Z8:p.Arg349His SP substitution exon 1 VAR_031577 Q9BV38:p.Ala172Thr SP substitution exon 1 VAR_031578 Q9BV38:p.Leu213Phe SP substitution exon 1 VAR_031579 Q9BV38:p.Val264Ile SP substitution exon 1 VAR_031580 Q8TBZ3:p.Pro159His SP substitution exon 1 VAR_031581 Q96JA1:p.Met615Val SP substitution exon 1 VAR_031586 Q96LB8:p.Gln92Arg SP substitution exon 1 VAR_031587 Q96LB8:p.Gly192Val SP substitution exon 1 VAR_031588 Q96LB8:p.Val213Ile SP substitution exon 1 VAR_031589 Q96LB8:p.Asp301Asn SP substitution exon 1 VAR_031590 Q96PC2:p.Arg60Trp SP substitution exon 1 VAR_031591 Q96PC2:p.Ala308Val SP substitution exon 1 VAR_031592 Q96PC2:p.Val312Ile SP substitution exon 1 VAR_031593 Q96PC2:p.Tyr378Ser SP substitution exon 1 VAR_031594 Q96RT7:p.Leu567Ser SP substitution exon 1 VAR_031595 Q99645:p.Ser150Cys SP substitution exon 1 VAR_031596 Q9BVK2:p.Ile439Thr SP substitution exon 1 VAR_031597 Q9BVS4:p.His144Tyr SP substitution exon 1 VAR_031598 Q9BVS4:p.Gly349Arg SP substitution exon 1 VAR_031599 Q9BVS4:p.Asn397Ser SP substitution exon 1 VAR_031600 Q9BXU1:p.Gln71His SP substitution exon 1 VAR_031601 Q9BXU1:p.Glu261Lys SP substitution exon 1 VAR_031602 Q9BXU1:p.Lys268Asn SP substitution exon 1 VAR_031603 Q9BXU1:p.Thr362Pro SP substitution exon 1 VAR_031604 Q9BXU1:p.Gly410Glu SP substitution exon 1 VAR_031606 Q9C009:p.Thr60Pro SP substitution exon 1 VAR_031607 Q9C009:p.Gln61Pro SP substitution exon 1 VAR_031609 Q9NYL5:p.Arg23Pro SP substitution exon 1 VAR_031610 Q9NYL5:p.Arg103His SP substitution exon 1 VAR_031611 Q9NYL5:p.Tyr288His SP substitution exon 1 VAR_031613 Q9UHF4:p.Val259Ile SP substitution exon 1 VAR_031616 Q9UIQ6:p.Ser86Pro SP substitution exon 1 VAR_031617 Q9UIQ6:p.Ile963Val SP substitution exon 1 VAR_031618 Q9UKI9:p.His152Arg SP substitution exon 1 VAR_031619 Q9UN66:p.Lys199Asn SP substitution exon 1 VAR_031620 Q9UN66:p.Glu244Gln SP substitution exon 1 VAR_031621 Q9UPM8:p.Cys163Arg SP substitution exon 1 VAR_031622 P53420:p.Ile6Thr SP substitution exon 1 VAR_031623 P53420:p.Gly116Glu SP substitution exon 1 VAR_031624 P53420:p.Gly960Arg SP substitution exon 1 VAR_031625 P53420:p.Gly999Glu SP substitution exon 1 VAR_031626 P53420:p.Pro1132Leu SP substitution exon 1 VAR_031627 P53420:p.Val1327Met SP substitution exon 1 VAR_031628 P53420:p.Ser1403Pro SP substitution exon 1 VAR_031629 Q6PL45:p.Val46Ile SP substitution exon 1 VAR_031631 O95475:p.His141Asn SP substitution exon 1 VAR_031632 P13611:p.Arg1826His SP substitution exon 1 VAR_031635 P02533:p.Arg134Pro SP substitution exon 1 VAR_031636 P02533:p.Arg148Cys SP substitution exon 1 VAR_031637 P02533:p.Arg388His SP substitution exon 1 VAR_031638 P02533:p.Tyr415Cys SP substitution exon 1 VAR_031639 P02533:p.Arg416Pro SP substitution exon 1 VAR_031640 P13647:p.Val143Asp SP substitution exon 1 VAR_031641 P13647:p.Asp158Val SP substitution exon 1 VAR_031642 P13647:p.Val186Met SP substitution exon 1 VAR_031643 P13647:p.Gln191Pro SP substitution exon 1 VAR_031644 P13647:p.Arg352Ser SP substitution exon 1 VAR_031647 P31277:p.Gly245Asp SP substitution exon 1 VAR_031650 P35453:p.Ser252Ala SP substitution exon 1 VAR_031651 P35453:p.Arg306Trp SP substitution exon 1 VAR_031652 P35453:p.Gln325Arg SP substitution exon 1 VAR_031653 Q8NDY8:p.Met141Thr SP substitution exon 1 VAR_031654 O15018:p.Gln1258Lys SP substitution exon 1 VAR_031655 O15018:p.Thr1274Ala SP substitution exon 1 VAR_031656 O15018:p.Asp1343Glu SP substitution exon 1 VAR_031657 O15018:p.Thr1425Met SP substitution exon 1 VAR_031658 O15018:p.Ala1649Val SP substitution exon 1 VAR_031659 O15018:p.Arg2247Gln SP substitution exon 1 VAR_031660 O60669:p.Thr445Ser SP substitution exon 1 VAR_031661 O75330:p.Asn305Lys SP substitution exon 1 VAR_031662 O95153:p.Gln817Arg SP substitution exon 1 VAR_031663 O95153:p.Trp851Arg SP substitution exon 1 VAR_031664 O95153:p.His1728Arg SP substitution exon 1 VAR_031665 O95294:p.Val11Leu SP substitution exon 1 VAR_031666 O95294:p.Thr58Met SP substitution exon 1 VAR_031667 O95294:p.Arg321His SP substitution exon 1 VAR_031669 Q14690:p.Ala623Ser SP substitution exon 1 VAR_031670 Q14690:p.Leu1216Phe SP substitution exon 1 VAR_031671 Q14789:p.Pro1249Ser SP substitution exon 1 VAR_031672 Q14789:p.Cys1713Phe SP substitution exon 1 VAR_031673 Q14789:p.Gly1765Asp SP substitution exon 1 VAR_031674 Q14839:p.Glu139Asp SP substitution exon 1 VAR_031675 Q14839:p.Ser1648Leu SP substitution exon 1 VAR_031676 Q14839:p.Ile1655Val SP substitution exon 1 VAR_031677 Q14978:p.Gly412Val SP substitution exon 1 VAR_031679 Q14980:p.Lys242Arg SP substitution exon 1 VAR_031680 Q14980:p.Ala794Gly SP substitution exon 1 VAR_031681 Q14980:p.Glu1153Asp SP substitution exon 1 VAR_031684 Q14990:p.Ser216Asn SP substitution exon 1 VAR_031686 P98073:p.Thr65Ile SP substitution exon 1 VAR_031687 P98073:p.Glu134Gln SP substitution exon 1 VAR_031688 P98073:p.Ser545Cys SP substitution exon 1 VAR_031689 P98073:p.Pro732Ser SP substitution exon 1 VAR_031690 P98073:p.Tyr828Cys SP substitution exon 1 VAR_031691 Q14249:p.Ser12Leu SP substitution exon 1 VAR_031692 Q13360:p.Asp94Gly SP substitution exon 1 VAR_031693 Q13360:p.Thr112Met SP substitution exon 1 VAR_031694 Q12864:p.Ile446Thr SP substitution exon 1 VAR_031695 Q12864:p.Glu734Asp SP substitution exon 1 VAR_031696 Q12864:p.Glu739Ala SP substitution exon 1 VAR_031697 Q6IPM2:p.His101Asn SP substitution exon 1 VAR_031698 Q6IPM2:p.Ala546Val SP substitution exon 1 VAR_031703 Q96EW2:p.Ser64Ala SP substitution exon 1 VAR_031704 Q9UBY8:p.His92Tyr SP substitution exon 1 VAR_031705 P98082:p.Thr586Ile SP substitution exon 1 VAR_031706 P16152:p.Pro131Ser SP substitution exon 1 VAR_031707 Q86W25:p.Gln247Arg SP substitution exon 1 VAR_031708 Q86W25:p.Asn781Ser SP substitution exon 1 VAR_031709 Q8IVD9:p.Arg235Cys SP substitution exon 1 VAR_031710 P00505:p.Gly188Ser SP substitution exon 1 VAR_031711 P00505:p.Val346Gly SP substitution exon 1 VAR_031712 P00505:p.Val428Ala SP substitution exon 1 VAR_031713 O95801:p.Ser47Thr SP substitution exon 1 VAR_031714 O94885:p.Pro298Gln SP substitution exon 1 VAR_031718 P49419:p.Ala199Val SP substitution exon 1 VAR_031719 P49419:p.Glu427Gln SP substitution exon 1 VAR_031720 O00423:p.Ala377Val SP substitution exon 1 VAR_031721 O00423:p.His552Asn SP substitution exon 1 VAR_031722 O00423:p.Ser556Pro SP substitution exon 1 VAR_031723 O95834:p.Met33Val SP substitution exon 1 VAR_031724 O95834:p.Leu187Phe SP substitution exon 1 VAR_031725 Q32P44:p.Gln620Lys SP substitution exon 1 VAR_031726 Q9HC35:p.Lys283Glu SP substitution exon 1 VAR_031727 Q9HC35:p.Ile382Val SP substitution exon 1 VAR_031728 Q9HC35:p.Lys398Arg SP substitution exon 1 VAR_031731 Q9Y2N7:p.Gln343Arg SP substitution exon 1 VAR_031732 Q9Y2N7:p.Phe463Leu SP substitution exon 1 VAR_031733 P43003:p.Pro290Arg SP substitution exon 1 VAR_031735 P35749:p.Arg1758Gln SP substitution exon 1 VAR_031736 Q0D2K0:p.Gly142Val SP substitution exon 1 VAR_031737 Q0D2K0:p.Ala176Asp SP substitution exon 1 VAR_031738 Q0D2K0:p.Ser208Phe SP substitution exon 1 VAR_031739 Q0D2K0:p.His237Asn SP substitution exon 1 VAR_031740 Q0D2K0:p.Gly297Arg SP substitution exon 1 VAR_031741 Q8NH83:p.Asn6Ser SP substitution exon 1 VAR_031742 Q8WWB7:p.Val94Ile SP substitution exon 1 VAR_031743 Q8WWB7:p.Pro203Ser SP substitution exon 1 VAR_031744 Q8WWB7:p.Ile223Val SP substitution exon 1 VAR_031745 Q8N0U7:p.Leu185Val SP substitution exon 1 VAR_031746 Q8N0U7:p.Asn301Asp SP substitution exon 1 VAR_031747 Q8N0U7:p.Lys403Glu SP substitution exon 1 VAR_031748 Q8N0U7:p.Ala406Pro SP substitution exon 1 VAR_031749 Q6ZV77:p.Lys168Glu SP substitution exon 1 VAR_031750 Q8N9H9:p.Ala530Val SP substitution exon 1 VAR_031751 Q9BTV4:p.Lys168Asn SP substitution exon 1 VAR_031752 Q9BTV4:p.Met179Thr SP substitution exon 1 VAR_031753 Q9BTV4:p.Tyr233Cys SP substitution exon 1 VAR_031754 Q9BTV4:p.Ala318Val SP substitution exon 1 VAR_031755 Q6P9G4:p.Ser93Phe SP substitution exon 1 VAR_031756 Q8N614:p.Tyr48Cys SP substitution exon 1 VAR_031757 Q8N614:p.Met212Thr SP substitution exon 1 VAR_031758 Q96NG3:p.Pro4Ser SP substitution exon 1 VAR_031759 Q96NG3:p.Ala18Gly SP substitution exon 1 VAR_031760 Q96C34:p.Val4Ile SP substitution exon 1 VAR_031761 Q96C34:p.Trp160Arg SP substitution exon 1 VAR_031762 Q96C34:p.Leu397Met SP substitution exon 1 VAR_031763 Q4LDR2:p.Glu17Val SP substitution exon 1 VAR_031764 Q8N1Q8:p.Tyr55Ser SP substitution exon 1 VAR_031765 Q8N1Q8:p.Asp197Gly SP substitution exon 1 VAR_031766 Q8N1Q8:p.Leu206Val SP substitution exon 1 VAR_031767 Q8TCI5:p.Lys97Asn SP substitution exon 1 VAR_031768 Q8TCI5:p.His105Asn SP substitution exon 1 VAR_031769 Q86X59:p.Leu186Pro SP substitution exon 1 VAR_031770 Q8TC99:p.Ser36Pro SP substitution exon 1 VAR_031771 Q5VWJ9:p.Asp83His SP substitution exon 1 VAR_031772 Q9BU20:p.Glu86Gly SP substitution exon 1 VAR_031773 Q8N4P6:p.Arg483His SP substitution exon 1 VAR_031774 Q8N4P6:p.Ser503Ala SP substitution exon 1 VAR_031775 Q2T9K0:p.His24Asn SP substitution exon 1 VAR_031776 Q9H7T9:p.Lys82Thr SP substitution exon 1 VAR_031777 Q9HA92:p.Ala119Thr SP substitution exon 1 VAR_031778 Q9HA92:p.Leu126Ser SP substitution exon 1 VAR_031779 Q9BSJ5:p.Gly226Ser SP substitution exon 1 VAR_031780 Q9BSJ5:p.Lys322Gln SP substitution exon 1 VAR_031781 Q9BSJ5:p.Phe356Leu SP substitution exon 1 VAR_031782 Q9BSJ5:p.His395Asn SP substitution exon 1 VAR_031783 Q9BSJ5:p.Cys396Arg SP substitution exon 1 VAR_031784 Q9BSJ5:p.Gln420His SP substitution exon 1 VAR_031785 Q9BSJ5:p.Ala522Thr SP substitution exon 1 VAR_031787 Q86UB9:p.Pro193His SP substitution exon 1 VAR_031788 Q86UB9:p.Gly218Arg SP substitution exon 1 VAR_031790 Q17R55:p.Pro3Ser SP substitution exon 1 VAR_031791 Q17R55:p.Cys160Arg SP substitution exon 1 VAR_031792 Q17R55:p.Val216Ile SP substitution exon 1 VAR_031793 Q5W0V3:p.Leu408Ile SP substitution exon 1 VAR_031794 Q5W0V3:p.Phe631Leu SP substitution exon 1 VAR_031795 O43147:p.Leu63Met SP substitution exon 1 VAR_031796 O43147:p.Arg238Lys SP substitution exon 1 VAR_031797 O43147:p.Arg244Ser SP substitution exon 1 VAR_031798 O43147:p.His329Arg SP substitution exon 1 VAR_031799 O43147:p.Arg374Gln SP substitution exon 1 VAR_031800 O43147:p.Asp968Val SP substitution exon 1 VAR_031801 Q86X24:p.Thr267Ile SP substitution exon 1 VAR_031802 Q8N7B1:p.Ala2Thr SP substitution exon 1 VAR_031803 Q8N7B1:p.Val20Leu SP substitution exon 1 VAR_031805 Q9UHE5:p.Phe143Ser SP substitution exon 1 VAR_031806 Q53R41:p.Glu384Gln SP substitution exon 1 VAR_031807 Q53R41:p.Cys446Gly SP substitution exon 1 VAR_031808 Q53R41:p.Met467Val SP substitution exon 1 VAR_031809 Q14CZ7:p.Lys56Arg SP substitution exon 1 VAR_031811 Q6JQN1:p.Gln200Arg SP substitution exon 1 VAR_031812 Q6JQN1:p.Thr216Pro SP substitution exon 1 VAR_031813 Q6JQN1:p.Asp463Asn SP substitution exon 1 VAR_031814 Q6JQN1:p.Ala880Val SP substitution exon 1 VAR_031815 Q8N2C3:p.His122Arg SP substitution exon 1 VAR_031816 Q8TB45:p.Asn148Ser SP substitution exon 1 VAR_031817 Q8TB45:p.Asn204Ser SP substitution exon 1 VAR_031818 Q8TB45:p.Ser389Asn SP substitution exon 1 VAR_031819 Q8WUY9:p.Arg332Met SP substitution exon 1 VAR_031820 Q8WUY9:p.Val395Leu SP substitution exon 1 VAR_031821 Q9UKB5:p.Gly263Arg SP substitution exon 1 VAR_031822 O60840:p.Ala1270Thr SP substitution exon 1 VAR_031823 P07602:p.Asn215His SP substitution exon 1 VAR_031824 P37275:p.Lys553Arg SP substitution exon 1 VAR_031825 Q6P1J9:p.Leu384Pro SP substitution exon 1 VAR_031826 Q4ZHG4:p.Thr438Ala SP substitution exon 1 VAR_031827 Q4ZHG4:p.Glu463Gln SP substitution exon 1 VAR_031828 Q4ZHG4:p.Gln1003Glu SP substitution exon 1 VAR_031829 Q4ZHG4:p.Asp1180Glu SP substitution exon 1 VAR_031830 Q4ZHG4:p.Leu1261Pro SP substitution exon 1 VAR_031831 Q4ZHG4:p.Gln1280Arg SP substitution exon 1 VAR_031832 Q4ZHG4:p.Thr1504Lys SP substitution exon 1 VAR_031833 Q4ZHG4:p.Thr1574Ala SP substitution exon 1 VAR_031834 Q2NKQ1:p.Thr802Pro SP substitution exon 1 VAR_031835 Q2NKQ1:p.Arg873Lys SP substitution exon 1 VAR_031841 Q5T1B0:p.Ala742Val SP substitution exon 1 VAR_031842 Q5T1B0:p.Glu991Gln SP substitution exon 1 VAR_031843 Q9P212:p.Ser469Thr SP substitution exon 1 VAR_031844 Q9P212:p.Arg548Leu SP substitution exon 1 VAR_031845 Q9P212:p.Arg1575Pro SP substitution exon 1 VAR_031846 Q9P212:p.Thr1777Ile SP substitution exon 1 VAR_031847 Q9P212:p.His1927Arg SP substitution exon 1 VAR_031848 P11487:p.Ser156Pro SP substitution exon 1 VAR_031849 Q92826:p.Thr41Met SP substitution exon 1 VAR_031850 O43248:p.Pro130Ser SP substitution exon 1 VAR_031852 Q8N7M0:p.Glu49Asp SP substitution exon 1 VAR_031853 Q96P20:p.Phe525Cys SP substitution exon 1 VAR_031854 Q8N3Y3:p.Glu37Lys SP substitution exon 1 VAR_031855 Q8N3Y3:p.Arg546Trp SP substitution exon 1 VAR_031856 Q53EP0:p.Thr179Ser SP substitution exon 1 VAR_031857 Q149N8:p.Gln438Arg SP substitution exon 1 VAR_031858 Q149N8:p.Ser460Phe SP substitution exon 1 VAR_031859 Q149N8:p.Asn1028Tyr SP substitution exon 1 VAR_031860 Q5T124:p.Glu165Gly SP substitution exon 1 VAR_031866 Q96M11:p.Cys31Arg SP substitution exon 1 VAR_031867 Q96M11:p.Asp211Gly SP substitution exon 1 VAR_031869 Q6NVY1:p.Thr46Ala SP substitution exon 1 VAR_031870 Q6NVY1:p.Tyr122Cys SP substitution exon 1 VAR_031871 Q9NWX6:p.Leu232Pro SP substitution exon 1 VAR_031872 P63092:p.Ile106Ser SP substitution exon 1 VAR_031873 P63092:p.Asp156Asn SP substitution exon 1 VAR_031874 P63092:p.Val159Met SP substitution exon 1 VAR_031875 P63092:p.Thr242Ile SP substitution exon 1 VAR_031876 P63092:p.Phe246Ser SP substitution exon 1 VAR_031877 P63092:p.Glu259Val SP substitution exon 1 VAR_031878 P63092:p.Arg280Gly SP substitution exon 1 VAR_031879 P63092:p.Arg280Lys SP substitution exon 1 VAR_031880 P63092:p.Trp281Arg SP substitution exon 1 VAR_031882 P13533:p.Arg795Gln SP substitution exon 1 VAR_031883 P13533:p.Ile820Asn SP substitution exon 1 VAR_031885 P25189:p.Asp61Gly SP substitution exon 1 VAR_031886 P25189:p.Thr65Ala SP substitution exon 1 VAR_031887 P25189:p.Ser78Trp SP substitution exon 1 VAR_031888 P25189:p.His81Tyr SP substitution exon 1 VAR_031889 P25189:p.Asp109Asn SP substitution exon 1 VAR_031890 P25189:p.Val113Phe SP substitution exon 1 VAR_031891 P25189:p.Tyr119Cys SP substitution exon 1 VAR_031892 P25189:p.Ala221Thr SP substitution exon 1 VAR_031899 P07602:p.Asn215Lys SP substitution exon 1 VAR_031900 Q8WVP7:p.Thr228Ala SP substitution exon 1 VAR_031901 Q96RP9:p.Met496Arg SP substitution exon 1 VAR_031902 P49411:p.Arg336Gln SP substitution exon 1 VAR_031903 Q5TGP6:p.Asn29Ser SP substitution exon 1 VAR_031904 Q5TGP6:p.Val74Ala SP substitution exon 1 VAR_031905 Q5TGP6:p.Tyr160His SP substitution exon 1 VAR_031906 Q8NDD1:p.Leu28Val SP substitution exon 1 VAR_031907 Q96IS3:p.Arg87Gln SP substitution exon 1 VAR_031908 Q96IS3:p.Gly137Arg SP substitution exon 1 VAR_031910 Q96EU7:p.Asp131Glu SP substitution exon 1 VAR_031911 Q96EU7:p.Glu152Lys SP substitution exon 1 VAR_031912 Q15878:p.Asp859Glu SP substitution exon 1 VAR_031913 Q5VTJ3:p.Thr147Pro SP substitution exon 1 VAR_031914 Q5VTJ3:p.His273Asn SP substitution exon 1 VAR_031915 Q56P03:p.Gln168Glu SP substitution exon 1 VAR_031916 Q15399:p.Arg80Thr SP substitution exon 1 VAR_031917 Q15399:p.Asn248Ser SP substitution exon 1 VAR_031918 Q15399:p.His305Leu SP substitution exon 1 VAR_031919 Q15399:p.Pro315Leu SP substitution exon 1 VAR_031920 Q15399:p.Val587Gly SP substitution exon 1 VAR_031921 Q15399:p.Ser602Ile SP substitution exon 1 VAR_031922 P09622:p.Lys104Thr SP substitution exon 1 VAR_031923 P20061:p.Arg35His SP substitution exon 1 VAR_031924 P20061:p.Asp301Tyr SP substitution exon 1 VAR_031925 P20702:p.Ala251Thr SP substitution exon 1 VAR_031926 P20702:p.Pro517Arg SP substitution exon 1 VAR_031927 P20702:p.Glu547Lys SP substitution exon 1 VAR_031928 P20702:p.Phe971Leu SP substitution exon 1 VAR_031929 P22223:p.Val237Met SP substitution exon 1 VAR_031930 P22223:p.Arg477His SP substitution exon 1 VAR_031931 P22223:p.Gln563His SP substitution exon 1 VAR_031932 Q86W24:p.Asn48Thr SP substitution exon 1 VAR_031933 Q86W24:p.Arg55Glu SP substitution exon 1 VAR_031934 Q86W24:p.Asp86Val SP substitution exon 1 VAR_031935 Q86W24:p.Lys92Arg SP substitution exon 1 VAR_031936 Q86W24:p.Ser98Leu SP substitution exon 1 VAR_031937 Q86W24:p.Ala375Thr SP substitution exon 1 VAR_031938 Q86W24:p.Thr397Ile SP substitution exon 1 VAR_031939 Q86W24:p.Val441Met SP substitution exon 1 VAR_031940 Q86W24:p.Asp522Gln SP substitution exon 1 VAR_031941 Q86W24:p.Ser951Thr SP substitution exon 1 VAR_031942 Q86W24:p.Leu954Ser SP substitution exon 1 VAR_031943 Q86W24:p.Leu1010Phe SP substitution exon 1 VAR_031944 Q86W24:p.Met1019Ile SP substitution exon 1 VAR_031945 P55287:p.Thr255Met SP substitution exon 1 VAR_031946 P55287:p.Met275Ile SP substitution exon 1 VAR_031947 P55287:p.Ser373Ala SP substitution exon 1 VAR_031948 Q8NEN0:p.Met166Thr SP substitution exon 1 VAR_031949 Q8NEN0:p.Asn433Asp SP substitution exon 1 VAR_031950 Q8IW93:p.Gly163Arg SP substitution exon 1 VAR_031951 Q8IW93:p.Glu238Gln SP substitution exon 1 VAR_031952 P04198:p.Arg393His SP substitution exon 1 VAR_031953 P04198:p.Arg393Ser SP substitution exon 1 VAR_031954 P04198:p.Arg394His SP substitution exon 1 VAR_031955 Q12768:p.Asn471Asp SP substitution exon 1 VAR_031956 Q12768:p.Leu619Phe SP substitution exon 1 VAR_031957 Q12768:p.Val626Phe SP substitution exon 1 VAR_031958 Q9Y6K9:p.Arg173Gly SP substitution exon 1 VAR_031959 Q9Y6K9:p.Glu315Ala SP substitution exon 1 VAR_031960 Q9Y6K9:p.Arg319Gln SP substitution exon 1 VAR_031961 P50570:p.Pro263Leu SP substitution exon 1 VAR_031962 P50570:p.Glu368Lys SP substitution exon 1 VAR_031963 P50570:p.Arg369Gln SP substitution exon 1 VAR_031964 P50570:p.Arg369Trp SP substitution exon 1 VAR_031965 P50570:p.Arg465Trp SP substitution exon 1 VAR_031967 P50570:p.Lys562Glu SP substitution exon 1 VAR_031968 P55268:p.Arg246Gln SP substitution exon 1 VAR_031969 P55268:p.Arg246Trp SP substitution exon 1 VAR_031970 P55268:p.Cys321Arg SP substitution exon 1 VAR_031971 P55268:p.Glu987Lys SP substitution exon 1 VAR_031974 Q8TCG2:p.Ser78Pro SP substitution exon 1 VAR_031975 Q658P3:p.Ala184Thr SP substitution exon 1 VAR_031976 Q687X5:p.Gly75Asp SP substitution exon 1 VAR_031977 Q687X5:p.Ala122Thr SP substitution exon 1 VAR_031978 P08603:p.Arg127Leu SP substitution exon 1 VAR_031980 P08603:p.Gln400Lys SP substitution exon 1 VAR_031981 P08603:p.Cys431Ser SP substitution exon 1 VAR_031982 P08603:p.Cys673Ser SP substitution exon 1 VAR_031983 P08603:p.Cys673Tyr SP substitution exon 1 VAR_031984 P08603:p.His893Arg SP substitution exon 1 VAR_031985 P08603:p.Cys915Ser SP substitution exon 1 VAR_031986 P08603:p.Phe1199Ser SP substitution exon 1 VAR_031987 Q5HYA8:p.Tyr513Cys SP substitution exon 1 VAR_031988 Q5HYA8:p.Gly545Glu SP substitution exon 1 VAR_031989 Q9Y281:p.Ala35Thr SP substitution exon 1 VAR_031990 Q9H0I9:p.Arg442Gln SP substitution exon 1 VAR_031991 Q9H0I9:p.Gln590His SP substitution exon 1 VAR_031992 Q8NDI1:p.Lys755Gln SP substitution exon 1 VAR_031993 Q8N3D4:p.Arg307Gln SP substitution exon 1 VAR_031994 Q8N3D4:p.Val538Gly SP substitution exon 1 VAR_031995 Q8N3D4:p.Asp569Val SP substitution exon 1 VAR_031996 Q8N3D4:p.Thr599Ile SP substitution exon 1 VAR_031997 Q8N3D4:p.Thr648Ile SP substitution exon 1 VAR_031998 O00623:p.Ser320Phe SP substitution exon 1 VAR_031999 Q68G75:p.Pro25Ser SP substitution exon 1 VAR_032008 Q6NXR0:p.Asp135Asn SP substitution exon 1 VAR_032009 Q96N77:p.Ser231Cys SP substitution exon 1 VAR_032010 Q96N77:p.Gln363Pro SP substitution exon 1 VAR_032011 P00995:p.Leu12Phe SP substitution exon 1 VAR_032012 P00995:p.Arg67His SP substitution exon 1 VAR_032024 Q9NY87:p.Val59Phe SP substitution exon 1 VAR_032025 Q5MJ10:p.Thr8Ile SP substitution exon 1 VAR_032026 Q5MJ09:p.Lys43Asn SP substitution exon 1 VAR_032027 Q5MJ08:p.Lys48Asn SP substitution exon 1 VAR_032028 Q9UHN1:p.Ala169Thr SP substitution exon 1 VAR_032030 Q6ZMY6:p.Cys310Arg SP substitution exon 1 VAR_032031 Q9BRU9:p.His170Arg SP substitution exon 1 VAR_032032 Q9BRU9:p.Lys195Gln SP substitution exon 1 VAR_032033 Q9BRU9:p.Pro215Leu SP substitution exon 1 VAR_032034 Q8WUY1:p.Glu93Gln SP substitution exon 1 VAR_032035 Q0IIN9:p.Leu84Ile SP substitution exon 1 VAR_032036 Q8TC56:p.Ala543Val SP substitution exon 1 VAR_032037 Q8TC56:p.Met564Thr SP substitution exon 1 VAR_032038 Q8TC56:p.Val599Ile SP substitution exon 1 VAR_032039 Q8N8Y2:p.Gly272Arg SP substitution exon 1 VAR_032040 Q8N8Y2:p.Glu295Lys SP substitution exon 1 VAR_032041 Q8NEY4:p.Asn143Asp SP substitution exon 1 VAR_032042 Q6UXX5:p.Gly387Arg SP substitution exon 1 VAR_032043 Q6UXX5:p.Arg561Cys SP substitution exon 1 VAR_032044 Q6UXX5:p.Trp1041Ser SP substitution exon 1 VAR_032045 Q6UXX5:p.Gly1170Ala SP substitution exon 1 VAR_032046 Q96EK9:p.Asp191Glu SP substitution exon 1 VAR_032047 O95379:p.Ser151Cys SP substitution exon 1 VAR_032048 Q8WVP5:p.Ala118Val SP substitution exon 1 VAR_032049 Q8TBX8:p.Val84Ala SP substitution exon 1 VAR_032050 Q8TBX8:p.Lys241Arg SP substitution exon 1 VAR_032051 Q8TBX8:p.Ala300Gly SP substitution exon 1 VAR_032052 P23942:p.Gly167Ser SP substitution exon 1 VAR_032054 P23942:p.Arg195Leu SP substitution exon 1 VAR_032055 Q8TAF8:p.Tyr127Cys SP substitution exon 1 VAR_032056 Q8TAF8:p.Thr165Met SP substitution exon 1 VAR_032057 Q8TAF8:p.Arg176Leu SP substitution exon 1 VAR_032058 Q96AN5:p.Asp143Asn SP substitution exon 1 VAR_032059 Q99715:p.Gly3058Ser SP substitution exon 1 VAR_032060 Q8IYR6:p.Val189Ile SP substitution exon 1 VAR_032061 Q2M3G4:p.Pro180Leu SP substitution exon 1 VAR_032062 Q8TF72:p.Leu147His SP substitution exon 1 VAR_032063 Q8TF72:p.Gly279Ala SP substitution exon 1 VAR_032064 Q8TF72:p.Pro469Ala SP substitution exon 1 VAR_032066 Q9BY44:p.Thr97Ser SP substitution exon 1 VAR_032068 Q6IQ49:p.Met312Ile SP substitution exon 1 VAR_032069 Q9H6F5:p.Gln153His SP substitution exon 1 VAR_032070 O60293:p.Glu1006Lys SP substitution exon 1 VAR_032071 O60293:p.Lys1807Arg SP substitution exon 1 VAR_032072 Q6P4A8:p.Val265Ile SP substitution exon 1 VAR_032073 Q6P4A8:p.Val377Ala SP substitution exon 1 VAR_032074 Q6P4A8:p.Pro534Ala SP substitution exon 1 VAR_032075 Q8NHP8:p.Arg524Cys SP substitution exon 1 VAR_032076 Q9ULE6:p.Ser141Leu SP substitution exon 1 VAR_032077 Q9ULE6:p.Arg721Cys SP substitution exon 1 VAR_032078 Q9C0B1:p.Ala405Val SP substitution exon 1 VAR_032079 Q9H568:p.Ala3Ser SP substitution exon 1 VAR_032080 Q9H568:p.Arg245Cys SP substitution exon 1 VAR_032081 Q8IYS1:p.Lys333Glu SP substitution exon 1 VAR_032082 Q9BRP4:p.Cys139Ser SP substitution exon 1 VAR_032083 P21333:p.Ala1419Gly SP substitution exon 1 VAR_032084 P35573:p.Thr38Ala SP substitution exon 1 VAR_032085 P35573:p.Ser962Cys SP substitution exon 1 VAR_032086 Q9Y276:p.Gly35Arg SP substitution exon 1 VAR_032087 Q9Y276:p.Arg45Cys SP substitution exon 1 VAR_032088 Q9Y276:p.Arg114Trp SP substitution exon 1 VAR_032089 Q9Y276:p.Arg183His SP substitution exon 1 VAR_032090 Q9Y276:p.Arg184Cys SP substitution exon 1 VAR_032091 Q9Y276:p.Gln302Glu SP substitution exon 1 VAR_032092 Q9Y276:p.Arg306His SP substitution exon 1 VAR_032093 Q99714:p.Asn247Ser SP substitution exon 1 VAR_032094 Q04671:p.Arg266Trp SP substitution exon 1 VAR_032095 Q04671:p.Ala336Val SP substitution exon 1 VAR_032096 Q04671:p.Val519Ala SP substitution exon 1 VAR_032097 Q04671:p.Arg560His SP substitution exon 1 VAR_032098 Q86V42:p.Asp181His SP substitution exon 1 VAR_032099 Q8N0X4:p.Asp28Tyr SP substitution exon 1 VAR_032100 Q8N0X4:p.Val128Ile SP substitution exon 1 VAR_032102 Q14145:p.Val167Phe SP substitution exon 1 VAR_032103 Q14145:p.Asp236His SP substitution exon 1 VAR_032104 Q14145:p.Gln284Leu SP substitution exon 1 VAR_032105 Q14145:p.Gly333Cys SP substitution exon 1 VAR_032106 Q14145:p.Asp349Asn SP substitution exon 1 VAR_032107 Q14145:p.Gly350Ser SP substitution exon 1 VAR_032108 Q14145:p.Gly364Cys SP substitution exon 1 VAR_032109 Q14145:p.Gly430Cys SP substitution exon 1 VAR_032110 Q16236:p.Arg43Gln SP substitution exon 1 VAR_032111 Q16236:p.Val268Met SP substitution exon 1 VAR_032112 Q9NQ87:p.His47Arg SP substitution exon 1 VAR_032113 O43826:p.Pro191Leu SP substitution exon 1 VAR_032114 Q8N335:p.Leu178Phe SP substitution exon 1 VAR_032118 Q8IY42:p.Ala151Thr SP substitution exon 1 VAR_032119 Q8IY42:p.Glu274Gly SP substitution exon 1 VAR_032120 Q8N1F1:p.Tyr36Cys SP substitution exon 1 VAR_032121 Q8N1F1:p.Ser78Thr SP substitution exon 1 VAR_032122 Q8NEP4:p.Pro88Thr SP substitution exon 1 VAR_032123 Q8NEP4:p.Gly461Ser SP substitution exon 1 VAR_032124 Q8NEP4:p.Cys546Gly SP substitution exon 1 VAR_032125 Q3LIE5:p.Leu92Arg SP substitution exon 1 VAR_032127 Q495Z4:p.Ser32Arg SP substitution exon 1 VAR_032129 Q9BUY7:p.Ala15Val SP substitution exon 1 VAR_032130 Q9BUY7:p.Asp31Gly SP substitution exon 1 VAR_032131 Q9BUY7:p.Thr45Ala SP substitution exon 1 VAR_032132 Q96PE2:p.Gly450Glu SP substitution exon 1 VAR_032133 Q96PE2:p.Ala1465Asp SP substitution exon 1 VAR_032134 Q9BUU2:p.Trp59Ser SP substitution exon 1 VAR_032135 Q9BUU2:p.Ala219Thr SP substitution exon 1 VAR_032136 Q9NQ60:p.Asn101Asp SP substitution exon 1 VAR_032137 Q9NQ60:p.Thr274Lys SP substitution exon 1 VAR_032138 Q6UXG2:p.Ile86Val SP substitution exon 1 VAR_032139 Q6UXG2:p.Thr623Pro SP substitution exon 1 VAR_032141 Q17RR3:p.Leu2Phe SP substitution exon 1 VAR_032142 Q17RR3:p.Phe332Leu SP substitution exon 1 VAR_032143 Q17RR3:p.Phe450Tyr SP substitution exon 1 VAR_032144 Q8IYI0:p.Ala23Val SP substitution exon 1 VAR_032145 Q0P670:p.Ser108Ala SP substitution exon 1 VAR_032146 Q0P670:p.Gln376Arg SP substitution exon 1 VAR_032147 Q86YA3:p.Asn410Ser SP substitution exon 1 VAR_032148 Q86YA3:p.Gly451Glu SP substitution exon 1 VAR_032149 Q86YA3:p.Thr978Ile SP substitution exon 1 VAR_032150 Q8N8J7:p.Pro46Gln SP substitution exon 1 VAR_032151 Q8NEL0:p.Arg38Gln SP substitution exon 1 VAR_032154 Q5TH69:p.Ser689Ala SP substitution exon 1 VAR_032155 Q5TH69:p.Ala1571Thr SP substitution exon 1 VAR_032156 Q5TH69:p.Lys2031Arg SP substitution exon 1 VAR_032157 Q8NCK7:p.Asp127Gly SP substitution exon 1 VAR_032158 Q8N8I6:p.Val50Leu SP substitution exon 1 VAR_032159 Q8N8I6:p.Arg119Cys SP substitution exon 1 VAR_032160 Q5VXJ0:p.Met331Ile SP substitution exon 1 VAR_032161 Q5VXJ0:p.Ile391Thr SP substitution exon 1 VAR_032162 Q8TAI1:p.Arg62Gly SP substitution exon 1 VAR_032163 Q70Z35:p.Asp312Asn SP substitution exon 1 VAR_032164 Q7Z5J8:p.Ile675Val SP substitution exon 1 VAR_032165 Q7Z5J8:p.Leu1077Phe SP substitution exon 1 VAR_032166 Q09FC8:p.His196Pro SP substitution exon 1 VAR_032167 Q09FC8:p.Ile229Leu SP substitution exon 1 VAR_032168 Q09FC8:p.Ile233Val SP substitution exon 1 VAR_032169 Q09FC8:p.Tyr241Cys SP substitution exon 1 VAR_032171 Q08ER8:p.Pro55Ala SP substitution exon 1 VAR_032172 Q08ER8:p.Gln107Arg SP substitution exon 1 VAR_032173 Q08ER8:p.Leu246His SP substitution exon 1 VAR_032174 Q08ER8:p.Glu287Val SP substitution exon 1 VAR_032175 Q08ER8:p.Val439Asp SP substitution exon 1 VAR_032176 Q08ER8:p.Met573Val SP substitution exon 1 VAR_032177 Q9H707:p.Trp242Cys SP substitution exon 1 VAR_032178 Q86UY5:p.Ala237Thr SP substitution exon 1 VAR_032179 Q6WRI0:p.Thr124Ile SP substitution exon 1 VAR_032180 Q6WRI0:p.Tyr150Asp SP substitution exon 1 VAR_032181 Q6WRI0:p.Pro571Ser SP substitution exon 1 VAR_032182 Q6WRI0:p.Ser1199Ala SP substitution exon 1 VAR_032183 Q6WRI0:p.Thr1370Ile SP substitution exon 1 VAR_032184 Q6WRI0:p.Tyr1875His SP substitution exon 1 VAR_032185 Q6WRI0:p.Arg2476Trp SP substitution exon 1 VAR_032186 Q6WRI0:p.His2579Tyr SP substitution exon 1 VAR_032187 Q5C9Z4:p.His122Pro SP substitution exon 1 VAR_032188 Q5C9Z4:p.Arg779His SP substitution exon 1 VAR_032189 Q5C9Z4:p.Val804Leu SP substitution exon 1 VAR_032190 Q5C9Z4:p.Val812Met SP substitution exon 1 VAR_032191 Q5VYY2:p.Arg418Trp SP substitution exon 1 VAR_032192 Q5VXI9:p.Thr244Asn SP substitution exon 1 VAR_032193 Q5T4S7:p.Thr1107Ala SP substitution exon 1 VAR_032194 Q5T4S7:p.Met4867Leu SP substitution exon 1 VAR_032195 Q5T4S7:p.Gly4924Arg SP substitution exon 1 VAR_032196 Q5T4S7:p.Val5084Met SP substitution exon 1 VAR_032197 P04062:p.Arg87Gln SP substitution exon 1 VAR_032198 P04062:p.Pro161Leu SP substitution exon 1 VAR_032199 P04062:p.Met162Val SP substitution exon 1 VAR_032200 P04062:p.Asp166Val SP substitution exon 1 VAR_032201 P04062:p.Ile200Asn SP substitution exon 1 VAR_032202 P04062:p.Leu213Phe SP substitution exon 1 VAR_032203 P04062:p.Leu224Phe SP substitution exon 1 VAR_032204 P04062:p.Gly232Glu SP substitution exon 1 VAR_032205 P04062:p.Lys237Glu SP substitution exon 1 VAR_032206 P04062:p.Leu303Ile SP substitution exon 1 VAR_032207 P04062:p.Glu388Lys SP substitution exon 1 VAR_032208 P04062:p.Arg392Trp SP substitution exon 1 VAR_032209 P04062:p.Tyr402Cys SP substitution exon 1 VAR_032210 P04062:p.Leu410Val SP substitution exon 1 VAR_032211 P04062:p.Asp419His SP substitution exon 1 VAR_032212 P04062:p.Asn421Lys SP substitution exon 1 VAR_032213 P04062:p.Gly429Arg SP substitution exon 1 VAR_032214 P04062:p.Phe436Ser SP substitution exon 1 VAR_032218 Q68CQ1:p.His182Arg SP substitution exon 1 VAR_032219 Q68CQ1:p.Val290Met SP substitution exon 1 VAR_032220 Q68CQ1:p.Tyr306Asp SP substitution exon 1 VAR_032221 Q68CQ1:p.Ser312Phe SP substitution exon 1 VAR_032222 Q68CQ1:p.Glu316Gly SP substitution exon 1 VAR_032223 Q68CQ1:p.Thr352Met SP substitution exon 1 VAR_032225 Q9BTE0:p.Cys56Arg SP substitution exon 1 VAR_032226 Q9HC10:p.Ala53Val SP substitution exon 1 VAR_032227 Q9HC10:p.Arg82Cys SP substitution exon 1 VAR_032228 Q9HC10:p.Pro490Gln SP substitution exon 1 VAR_032229 Q9HC10:p.Ile515Thr SP substitution exon 1 VAR_032230 Q9HC10:p.Val575Met SP substitution exon 1 VAR_032231 Q9HC10:p.Arg773Ser SP substitution exon 1 VAR_032232 Q9HC10:p.Arg794His SP substitution exon 1 VAR_032233 Q9HC10:p.Arg822Trp SP substitution exon 1 VAR_032234 Q9HC10:p.Leu1011Pro SP substitution exon 1 VAR_032235 Q9HC10:p.Ala1083Pro SP substitution exon 1 VAR_032236 Q9HC10:p.Arg1157Gln SP substitution exon 1 VAR_032237 Q9HC10:p.Asp1322Glu SP substitution exon 1 VAR_032238 Q9HC10:p.Val1625Met SP substitution exon 1 VAR_032239 Q9HC10:p.Pro1825Ala SP substitution exon 1 VAR_032240 Q9HC10:p.Gly1888Asp SP substitution exon 1 VAR_032241 Q9HC10:p.Arg1939Gln SP substitution exon 1 VAR_032242 Q9HC10:p.Pro1987Arg SP substitution exon 1 VAR_032243 Q9NXZ1:p.Asn741Lys SP substitution exon 1 VAR_032244 Q9NXZ1:p.Leu805Ser SP substitution exon 1 VAR_032245 Q8NEY1:p.Gln937His SP substitution exon 1 VAR_032246 Q8NEY1:p.Ser1273Leu SP substitution exon 1 VAR_032247 Q8NEY1:p.His1290Asp SP substitution exon 1 VAR_032248 Q8NEY1:p.Val1527Ile SP substitution exon 1 VAR_032249 Q8IVL0:p.Thr45Ala SP substitution exon 1 VAR_032250 Q8IVL0:p.Ser210Trp SP substitution exon 1 VAR_032251 Q8IVL0:p.Glu2200Lys SP substitution exon 1 VAR_032252 Q8IVL1:p.Val2374Ile SP substitution exon 1 VAR_032253 Q9ULI3:p.Phe602Ser SP substitution exon 1 VAR_032254 Q9ULI3:p.Val980Leu SP substitution exon 1 VAR_032255 Q9ULI3:p.Met1039Thr SP substitution exon 1 VAR_032256 Q9BZE0:p.Thr492Ala SP substitution exon 1 VAR_032259 Q8WTU0:p.Gly136Ser SP substitution exon 1 VAR_032260 Q8WTU0:p.Ser142Gly SP substitution exon 1 VAR_032261 Q8WTU0:p.Gly239Glu SP substitution exon 1 VAR_032262 Q24JP5:p.Arg699His SP substitution exon 1 VAR_032263 Q24JP5:p.Ala969Val SP substitution exon 1 VAR_032264 Q14C87:p.Leu878Phe SP substitution exon 1 VAR_032265 Q8NHH9:p.Trp18Arg SP substitution exon 1 VAR_032266 Q8NHH9:p.Asn272Ser SP substitution exon 1 VAR_032268 Q9P2N6:p.Val707Ile SP substitution exon 1 VAR_032269 Q6P995:p.Val302Ile SP substitution exon 1 VAR_032270 Q86XM0:p.Thr504Ala SP substitution exon 1 VAR_032271 Q86XM0:p.Thr743Ser SP substitution exon 1 VAR_032272 Q13620:p.Leu103Pro SP substitution exon 1 VAR_032273 Q13620:p.Thr213Ile SP substitution exon 1 VAR_032274 Q13620:p.Arg572Cys SP substitution exon 1 VAR_032276 P05067:p.Leu705Val SP substitution exon 1 VAR_032277 P05067:p.Thr714Ala SP substitution exon 1 VAR_032278 Q7Z402:p.Arg59Trp SP substitution exon 1 VAR_032279 Q7Z402:p.Gly254Glu SP substitution exon 1 VAR_032281 A2RTY3:p.Ser480Phe SP substitution exon 1 VAR_032282 Q2NKJ3:p.Ile820Val SP substitution exon 1 VAR_032283 Q2NKJ3:p.Ile1005Val SP substitution exon 1 VAR_032285 Q8IVS8:p.Leu170Val SP substitution exon 1 VAR_032286 Q8IVS8:p.Thr394Ile SP substitution exon 1 VAR_032287 Q8NEZ2:p.Ile206Phe SP substitution exon 1 VAR_032288 Q8NEZ2:p.Ile213Val SP substitution exon 1 VAR_032289 Q9H0R4:p.Arg85Gln SP substitution exon 1 VAR_032290 P06280:p.Ser65Thr SP substitution exon 1 VAR_032291 P06280:p.Asp266His SP substitution exon 1 VAR_032292 P06280:p.Asn272Ser SP substitution exon 1 VAR_032293 P06280:p.Thr410Ala SP substitution exon 1 VAR_032294 Q155Q3:p.Lys300Arg SP substitution exon 1 VAR_032295 Q5VUD6:p.Ser158Gly SP substitution exon 1 VAR_032296 Q8NBL3:p.Leu107Val SP substitution exon 1 VAR_032297 Q9BRP8:p.Glu66Gln SP substitution exon 1 VAR_032298 Q9BSH5:p.Gly146Glu SP substitution exon 1 VAR_032299 Q8IW19:p.Ile100Val SP substitution exon 1 VAR_032300 Q8IW19:p.Leu336Phe SP substitution exon 1 VAR_032303 Q9BRR8:p.Leu476Pro SP substitution exon 1 VAR_032304 Q9BRR8:p.His724Arg SP substitution exon 1 VAR_032305 Q9BRR8:p.Leu728Ser SP substitution exon 1 VAR_032306 Q9BRR8:p.Glu909Lys SP substitution exon 1 VAR_032307 Q96JI7:p.Tyr396Cys SP substitution exon 1 VAR_032308 Q96JI7:p.Phe463Ser SP substitution exon 1 VAR_032309 Q8TEV9:p.Pro524Leu SP substitution exon 1 VAR_032310 Q8TEV9:p.Arg556His SP substitution exon 1 VAR_032311 Q8TEV9:p.Asn636Ser SP substitution exon 1 VAR_032312 Q9NVU7:p.Lys258Gln SP substitution exon 1 VAR_032313 Q9NVU7:p.Ala490Asp SP substitution exon 1 VAR_032314 Q9NVU7:p.Ser575Cys SP substitution exon 1 VAR_032316 Q96LZ7:p.Gly259Asp SP substitution exon 1 VAR_032317 Q6PID6:p.Leu69Met SP substitution exon 1 VAR_032318 Q9NZL9:p.Ala293Thr SP substitution exon 1 VAR_032320 Q9UHQ9:p.Asn44Ser SP substitution exon 1 VAR_032321 Q6BCY4:p.Glu15Ala SP substitution exon 1 VAR_032322 Q6BCY4:p.Asn209Asp SP substitution exon 1 VAR_032323 Q7L1T6:p.Gln187Arg SP substitution exon 1 VAR_032324 Q7L1T6:p.His223Arg SP substitution exon 1 VAR_032325 Q7L1T6:p.Ser282Pro SP substitution exon 1 VAR_032326 Q9H306:p.Arg22Trp SP substitution exon 1 VAR_032327 Q9H306:p.Thr24Met SP substitution exon 1 VAR_032328 Q9H306:p.Met30Val SP substitution exon 1 VAR_032329 Q9H306:p.Glu266Val SP substitution exon 1 VAR_032330 Q9H306:p.Trp304Leu SP substitution exon 1 VAR_032331 Q9H306:p.Asp447Asn SP substitution exon 1 VAR_032332 Q9H306:p.Ile477Val SP substitution exon 1 VAR_032333 Q6ZS82:p.Ala96Ser SP substitution exon 1 VAR_032334 Q6MZT1:p.Ile255Val SP substitution exon 1 VAR_032335 Q6UXH9:p.Ala305Thr SP substitution exon 1 VAR_032336 Q6DD87:p.Gly379Ala SP substitution exon 1 VAR_032337 Q6UXB8:p.Thr50Pro SP substitution exon 1 VAR_032339 Q9H3Y0:p.Phe15Cys SP substitution exon 1 VAR_032340 Q9BUB4:p.His167Asn SP substitution exon 1 VAR_032341 Q9BUB4:p.Thr203Asn SP substitution exon 1 VAR_032342 Q8TBG4:p.Ser185Pro SP substitution exon 1 VAR_032343 Q9BRD0:p.Arg120Cys SP substitution exon 1 VAR_032344 Q9BRD0:p.Pro148Leu SP substitution exon 1 VAR_032345 Q9BRD0:p.Arg242Ile SP substitution exon 1 VAR_032346 Q6IQ23:p.Leu241Ile SP substitution exon 1 VAR_032347 Q6IQ23:p.Ala248Val SP substitution exon 1 VAR_032348 Q6IQ23:p.Gln279Arg SP substitution exon 1 VAR_032349 Q6IQ23:p.Val693Ile SP substitution exon 1 VAR_032352 Q6YP21:p.Ser206Pro SP substitution exon 1 VAR_032353 Q6P7N7:p.Arg77Gln SP substitution exon 1 VAR_032354 Q6P7N7:p.Phe100Ser SP substitution exon 1 VAR_032356 Q96JD6:p.Cys52Gly SP substitution exon 1 VAR_032357 Q96JD6:p.Lys86Arg SP substitution exon 1 VAR_032358 Q495B1:p.Lys355Glu SP substitution exon 1 VAR_032359 Q8TBE0:p.Glu26Gly SP substitution exon 1 VAR_032360 Q8TBE0:p.Asp182His SP substitution exon 1 VAR_032361 Q8TBE0:p.Gln298Lys SP substitution exon 1 VAR_032362 Q96T54:p.Ser21Gly SP substitution exon 1 VAR_032363 Q96T54:p.Met253Leu SP substitution exon 1 VAR_032364 Q3BBV0:p.Ile20Met SP substitution exon 1 VAR_032365 Q3BBV0:p.Asn31Lys SP substitution exon 1 VAR_032366 Q3BBV0:p.Ala510Thr SP substitution exon 1 VAR_032367 Q3BBV0:p.Cys591Gly SP substitution exon 1 VAR_032368 Q3BBV0:p.Val612Met SP substitution exon 1 VAR_032369 Q3BBV0:p.Arg663Cys SP substitution exon 1 VAR_032374 Q9H094:p.Tyr114Cys SP substitution exon 1 VAR_032375 Q9H094:p.Leu459Val SP substitution exon 1 VAR_032376 P0C2Y1:p.Glu170Asp SP substitution exon 1 VAR_032381 Q5TI25:p.Ser243Gly SP substitution exon 1 VAR_032382 Q5TI25:p.Arg571Cys SP substitution exon 1 VAR_032383 Q8N660:p.Pro615Gln SP substitution exon 1 VAR_032384 Q96JS3:p.Gly244Glu SP substitution exon 1 VAR_032385 Q96JS3:p.Gln248Glu SP substitution exon 1 VAR_032386 Q96JS3:p.Pro256Leu SP substitution exon 1 VAR_032387 Q96JS3:p.Asn398Ser SP substitution exon 1 VAR_032388 Q96JS3:p.Met592Ile SP substitution exon 1 VAR_032389 Q96JS3:p.Ile678Val SP substitution exon 1 VAR_032390 Q96JS3:p.His806Asp SP substitution exon 1 VAR_032391 Q8N328:p.Arg382Lys SP substitution exon 1 VAR_032392 Q96BA8:p.Ala411Thr SP substitution exon 1 VAR_032393 Q8N3J3:p.Thr126Pro SP substitution exon 1 VAR_032394 P04062:p.Cys55Ser SP substitution exon 1 VAR_032395 P04062:p.Asp63Asn SP substitution exon 1 VAR_032396 P04062:p.Met92Thr SP substitution exon 1 VAR_032397 P04062:p.Ala129Thr SP substitution exon 1 VAR_032398 P04062:p.Asn156Asp SP substitution exon 1 VAR_032399 P04062:p.Ile158Ser SP substitution exon 1 VAR_032400 P04062:p.Thr173Ile SP substitution exon 1 VAR_032401 P04062:p.Ala175Glu SP substitution exon 1 VAR_032402 P04062:p.Pro198Thr SP substitution exon 1 VAR_032403 P04062:p.His201Pro SP substitution exon 1 VAR_032404 P04062:p.Arg209Cys SP substitution exon 1 VAR_032405 P04062:p.Pro221Leu SP substitution exon 1 VAR_032406 P04062:p.Ala229Thr SP substitution exon 1 VAR_032407 P04062:p.Val230Glu SP substitution exon 1 VAR_032408 P04062:p.Thr270Arg SP substitution exon 1 VAR_032409 P04062:p.Phe290Leu SP substitution exon 1 VAR_032410 P04062:p.Ser310Gly SP substitution exon 1 VAR_032411 P04062:p.Arg368His SP substitution exon 1 VAR_032412 P04062:p.Met400Ile SP substitution exon 1 VAR_032413 P04062:p.Asp438Tyr SP substitution exon 1 VAR_032414 P04062:p.Ile441Phe SP substitution exon 1 VAR_032417 Q5XXA6:p.Phe608Ser SP substitution exon 1 VAR_032418 Q5XXA6:p.Gly983Arg SP substitution exon 1 VAR_032419 Q08AI8:p.Leu309Pro SP substitution exon 1 VAR_032420 Q96M89:p.Asp99Tyr SP substitution exon 1 VAR_032421 Q96M89:p.Arg115Lys SP substitution exon 1 VAR_032422 Q9H6L5:p.Gln379Glu SP substitution exon 1 VAR_032423 P08253:p.Arg101His SP substitution exon 1 VAR_032424 P08253:p.Asp210Tyr SP substitution exon 1 VAR_032425 P08253:p.Glu404Lys SP substitution exon 1 VAR_032426 Q96SN8:p.Arg1045Thr SP substitution exon 1 VAR_032427 Q9HC77:p.Met21Val SP substitution exon 1 VAR_032428 Q9HC77:p.Pro55Ala SP substitution exon 1 VAR_032429 Q9HC77:p.Asp63His SP substitution exon 1 VAR_032430 Q9HC77:p.Pro85Thr SP substitution exon 1 VAR_032431 Q9HC77:p.Glu151Gly SP substitution exon 1 VAR_032432 Q9HC77:p.Ser879Ala SP substitution exon 1 VAR_032433 Q9HC77:p.Glu1235Val SP substitution exon 1 VAR_032434 P63261:p.Thr89Ile SP substitution exon 1 VAR_032435 P63261:p.Lys118Met SP substitution exon 1 VAR_032436 P63261:p.Pro264Leu SP substitution exon 1 VAR_032437 P63261:p.Thr278Ile SP substitution exon 1 VAR_032438 P63261:p.Pro332Ala SP substitution exon 1 VAR_032439 P63261:p.Val370Ala SP substitution exon 1 VAR_032440 Q66K14:p.Leu240Pro SP substitution exon 1 VAR_032441 Q66K14:p.Val706Ile SP substitution exon 1 VAR_032442 Q66K14:p.Lys1119Thr SP substitution exon 1 VAR_032443 Q68CQ7:p.Arg210His SP substitution exon 1 VAR_032444 Q9P109:p.Val321Ile SP substitution exon 1 VAR_032445 Q9P109:p.Pro439Ser SP substitution exon 1 VAR_032446 Q9UQ53:p.Leu491Phe SP substitution exon 1 VAR_032447 Q9UBM8:p.Thr428Ser SP substitution exon 1 VAR_032448 Q2M1V0:p.Ser28Gly SP substitution exon 1 VAR_032449 Q2M1V0:p.Pro57Ser SP substitution exon 1 VAR_032450 Q2M1V0:p.Arg83Gln SP substitution exon 1 VAR_032451 Q2M1V0:p.Ala158Val SP substitution exon 1 VAR_032453 Q32M45:p.Gly115Ala SP substitution exon 1 VAR_032454 Q96JP5:p.Val37Ile SP substitution exon 1 VAR_032455 O60602:p.Thr82Ile SP substitution exon 1 VAR_032456 O60602:p.Pro112Ala SP substitution exon 1 VAR_032457 O15178:p.Val367Met SP substitution exon 1 VAR_032458 O15178:p.Glu402Lys SP substitution exon 1 VAR_032459 P21359:p.His31Arg SP substitution exon 1 VAR_032460 P21359:p.Leu145Pro SP substitution exon 1 VAR_032461 P21359:p.Asp186Val SP substitution exon 1 VAR_032462 P21359:p.Leu194Arg SP substitution exon 1 VAR_032463 P21359:p.Cys324Arg SP substitution exon 1 VAR_032464 P21359:p.Glu337Val SP substitution exon 1 VAR_032465 P21359:p.Tyr489Cys SP substitution exon 1 VAR_032466 P21359:p.Leu532Pro SP substitution exon 1 VAR_032467 P21359:p.Ser574Arg SP substitution exon 1 VAR_032468 P21359:p.Leu844Pro SP substitution exon 1 VAR_032469 P21359:p.Arg873Cys SP substitution exon 1 VAR_032470 P21359:p.Met1073Val SP substitution exon 1 VAR_032471 P21359:p.Leu1196Arg SP substitution exon 1 VAR_032472 P21359:p.Leu1243Pro SP substitution exon 1 VAR_032473 P21359:p.Arg1276Gly SP substitution exon 1 VAR_032474 P21359:p.Lys1430Glu SP substitution exon 1 VAR_032475 P21359:p.Asn1451Thr SP substitution exon 1 VAR_032476 P21359:p.Val1453Leu SP substitution exon 1 VAR_032478 P08581:p.Leu238Ser SP substitution exon 1 VAR_032479 P08581:p.Ile316Met SP substitution exon 1 VAR_032480 P08581:p.Asn375Ser SP substitution exon 1 VAR_032494 Q8WXH2:p.Ile376Thr SP substitution exon 1 VAR_032495 Q8WXH2:p.Pro472Thr SP substitution exon 1 VAR_032496 Q8WXH2:p.Pro645Leu SP substitution exon 1 VAR_032497 Q6PEW0:p.Ser182Gly SP substitution exon 1 VAR_032498 Q6PEW0:p.Val240Ile SP substitution exon 1 VAR_032499 Q6PEW0:p.Thr295Ala SP substitution exon 1 VAR_032500 Q6ZU64:p.Met66Leu SP substitution exon 1 VAR_032501 Q96M63:p.Arg329His SP substitution exon 1 VAR_032502 Q96M63:p.Pro468Leu SP substitution exon 1 VAR_032505 Q86Z20:p.Val13Met SP substitution exon 1 VAR_032506 Q6ZNC4:p.Ala35Ser SP substitution exon 1 VAR_032507 Q9UPR0:p.Gln211Arg SP substitution exon 1 VAR_032508 Q9UPR0:p.Val635Met SP substitution exon 1 VAR_032509 Q9UPR0:p.Ala742Val SP substitution exon 1 VAR_032510 Q9UPR0:p.Pro809His SP substitution exon 1 VAR_032511 Q9UPR0:p.His890Arg SP substitution exon 1 VAR_032512 Q8TC90:p.Ile379Met SP substitution exon 1 VAR_032513 Q8WUB2:p.Arg225Gly SP substitution exon 1 VAR_032514 Q6UWH4:p.Gly432Ser SP substitution exon 1 VAR_032516 Q2TAC2:p.Glu237Gln SP substitution exon 1 VAR_032517 Q2TAC2:p.Gln321Arg SP substitution exon 1 VAR_032518 Q2TAC2:p.Val480Met SP substitution exon 1 VAR_032519 Q2TAC2:p.Arg775Gly SP substitution exon 1 VAR_032520 Q2TAC2:p.Asp777Asn SP substitution exon 1 VAR_032521 Q2TAC2:p.Ala778Thr SP substitution exon 1 VAR_032522 Q2TAC2:p.Gln811Lys SP substitution exon 1 VAR_032523 Q2TAC2:p.Met834Thr SP substitution exon 1 VAR_032525 Q8IWF9:p.Thr49Ala SP substitution exon 1 VAR_032526 Q8N9P6:p.Leu5Pro SP substitution exon 1 VAR_032527 Q9BU70:p.Ser7Pro SP substitution exon 1 VAR_032528 Q9BU70:p.Val252Ala SP substitution exon 1 VAR_032529 Q9BU70:p.Val324Met SP substitution exon 1 VAR_032530 Q6PJW8:p.Ser28Asn SP substitution exon 1 VAR_032531 Q6PJW8:p.Leu87Ser SP substitution exon 1 VAR_032532 Q6PJW8:p.Arg399Cys SP substitution exon 1 VAR_032533 Q8WUU5:p.Gly54Ser SP substitution exon 1 VAR_032534 Q9P0W5:p.Ala481Val SP substitution exon 1 VAR_032535 Q2KHR3:p.Gln644Arg SP substitution exon 1 VAR_032536 Q2KHR3:p.Asn1018Ser SP substitution exon 1 VAR_032538 Q8IVJ8:p.His107Tyr SP substitution exon 1 VAR_032540 Q96EM0:p.Val42Ala SP substitution exon 1 VAR_032541 Q96EM0:p.Ala315Val SP substitution exon 1 VAR_032542 Q96EM0:p.Ile341Val SP substitution exon 1 VAR_032543 Q5W064:p.Ile210Val SP substitution exon 1 VAR_032544 Q7Z5S9:p.Asp157Gly SP substitution exon 1 VAR_032545 Q8N543:p.Pro173Ser SP substitution exon 1 VAR_032546 Q5JRA6:p.Lys482Glu SP substitution exon 1 VAR_032547 Q5JRA6:p.Lys605Arg SP substitution exon 1 VAR_032548 Q5JRA6:p.Glu881Gly SP substitution exon 1 VAR_032549 Q5JRA6:p.Gly1659Cys SP substitution exon 1 VAR_032550 Q5JRA6:p.Lys1723Glu SP substitution exon 1 VAR_032551 O43149:p.Val30Ala SP substitution exon 1 VAR_032552 O43149:p.Ile1021Val SP substitution exon 1 VAR_032553 O43149:p.Ser1437Ala SP substitution exon 1 VAR_032554 O43149:p.Leu1972Pro SP substitution exon 1 VAR_032555 O43149:p.Ile2014Val SP substitution exon 1 VAR_032556 O43149:p.Pro2051Ser SP substitution exon 1 VAR_032557 O43149:p.Tyr2301His SP substitution exon 1 VAR_032558 O43149:p.Leu2303Pro SP substitution exon 1 VAR_032559 O43149:p.Glu2369Gln SP substitution exon 1 VAR_032560 O43149:p.Ala2421Thr SP substitution exon 1 VAR_032561 Q8NAX2:p.Gln100Arg SP substitution exon 1 VAR_032562 Q8NAX2:p.Arg107Trp SP substitution exon 1 VAR_032563 Q8NAX2:p.Lys189Arg SP substitution exon 1 VAR_032564 Q96FB5:p.Val400Leu SP substitution exon 1 VAR_032565 Q96IY4:p.Ala169Thr SP substitution exon 1 VAR_032566 Q5JR12:p.Leu213Phe SP substitution exon 1 VAR_032567 Q5JR12:p.Val236Ile SP substitution exon 1 VAR_032568 A0AVF1:p.Asp310Asn SP substitution exon 1 VAR_032572 Q9Y4F9:p.Ala145Gly SP substitution exon 1 VAR_032573 Q9Y4F9:p.Val320Met SP substitution exon 1 VAR_032574 Q9Y4F9:p.Glu424Lys SP substitution exon 1 VAR_032575 Q9Y4F9:p.Ser452Cys SP substitution exon 1 VAR_032576 Q9Y4F9:p.Glu495Lys SP substitution exon 1 VAR_032577 Q9Y4F9:p.Arg520Cys SP substitution exon 1 VAR_032578 Q6ICG8:p.Gln5Glu SP substitution exon 1 VAR_032579 Q6ICG8:p.Asp121Gly SP substitution exon 1 VAR_032580 Q6ICG8:p.Cys170Phe SP substitution exon 1 VAR_032582 Q0VG06:p.Pro660Leu SP substitution exon 1 VAR_032583 Q0VG06:p.Thr817Ala SP substitution exon 1 VAR_032584 Q9Y6X6:p.Met385Thr SP substitution exon 1 VAR_032585 Q9Y6X6:p.Pro831Ala SP substitution exon 1 VAR_032586 Q7Z591:p.Pro624Leu SP substitution exon 1 VAR_032591 Q96CW6:p.Val24Met SP substitution exon 1 VAR_032592 Q96CW6:p.Gly45Asp SP substitution exon 1 VAR_032593 Q96CW6:p.Ser116Ala SP substitution exon 1 VAR_032594 Q96CW6:p.Tyr220Cys SP substitution exon 1 VAR_032595 Q2VPK5:p.Met253Val SP substitution exon 1 VAR_032596 Q2VPK5:p.Val332Ile SP substitution exon 1 VAR_032597 Q2VPK5:p.Gln416Arg SP substitution exon 1 VAR_032598 O95391:p.Ile111Val SP substitution exon 1 VAR_032599 O95391:p.Met229Thr SP substitution exon 1 VAR_032600 Q9C0J1:p.Pro6Ala SP substitution exon 1 VAR_032601 Q9C0J1:p.Ser83Thr SP substitution exon 1 VAR_032602 Q9C0J1:p.Leu87Pro SP substitution exon 1 VAR_032605 Q9H649:p.Ala295Val SP substitution exon 1 VAR_032606 Q96CB9:p.Thr51Ala SP substitution exon 1 VAR_032607 Q96CB9:p.Asn128Lys SP substitution exon 1 VAR_032608 Q96CB9:p.Ile325Thr SP substitution exon 1 VAR_032610 Q8NE18:p.Ser308Ala SP substitution exon 1 VAR_032612 Q8WUD6:p.Phe162Ser SP substitution exon 1 VAR_032613 Q8WUD6:p.Tyr323Ser SP substitution exon 1 VAR_032614 Q7Z5W3:p.Ser288Arg SP substitution exon 1 VAR_032615 Q9C0C2:p.Ser714Asn SP substitution exon 1 VAR_032616 Q6IWH7:p.Val67Ile SP substitution exon 1 VAR_032617 A1A5B4:p.Ile391Val SP substitution exon 1 VAR_032618 A1A5B4:p.Cys399Arg SP substitution exon 1 VAR_032619 Q7RTY1:p.Thr258Lys SP substitution exon 1 VAR_032620 Q7RTY1:p.Asp461Glu SP substitution exon 1 VAR_032621 Q7Z404:p.Gly17Glu SP substitution exon 1 VAR_032622 Q7Z404:p.Gln689Glu SP substitution exon 1 VAR_032623 Q8N3X1:p.Glu125Gly SP substitution exon 1 VAR_032624 Q8N3X1:p.Thr794Ala SP substitution exon 1 VAR_032625 P46100:p.Cys220Tyr SP substitution exon 1 VAR_032626 P46100:p.Leu409Ser SP substitution exon 1 VAR_032627 P46100:p.Arg2271Gly SP substitution exon 1 VAR_032630 Q9UKX2:p.Glu706Lys SP substitution exon 1 VAR_032631 Q9UKX2:p.Val970Ile SP substitution exon 1 VAR_032632 Q9UKX2:p.Leu1061Val SP substitution exon 1 VAR_032633 Q9UKX2:p.Arg1927Gln SP substitution exon 1 VAR_032634 P60484:p.His93Arg SP substitution exon 1 VAR_032635 P60484:p.Gly132Val SP substitution exon 1 VAR_032636 P60484:p.Phe241Ser SP substitution exon 1 VAR_032637 P60484:p.Asp252Gly SP substitution exon 1 VAR_032638 Q9NW15:p.Arg462Gln SP substitution exon 1 VAR_032639 Q9NW15:p.Thr561Met SP substitution exon 1 VAR_032640 Q9NW15:p.Val583Ala SP substitution exon 1 VAR_032641 Q01082:p.Asp1411His SP substitution exon 1 VAR_032642 Q9BY76:p.Pro5Leu SP substitution exon 1 VAR_032643 Q9BY76:p.Glu40Lys SP substitution exon 1 VAR_032644 Q9BY76:p.Met41Ile SP substitution exon 1 VAR_032645 Q9BY76:p.Ser67Arg SP substitution exon 1 VAR_032646 Q9BY76:p.Arg72Leu SP substitution exon 1 VAR_032647 Q9BY76:p.Gly77Arg SP substitution exon 1 VAR_032648 Q9BY76:p.Glu167Lys SP substitution exon 1 VAR_032649 Q9BY76:p.Pro174Ser SP substitution exon 1 VAR_032650 Q9BY76:p.Glu190Gln SP substitution exon 1 VAR_032651 Q9BY76:p.Glu196Lys SP substitution exon 1 VAR_032652 Q9BY76:p.Arg230Cys SP substitution exon 1 VAR_032653 Q9BY76:p.Gly233Arg SP substitution exon 1 VAR_032654 Q9BY76:p.Phe237Val SP substitution exon 1 VAR_032669 Q9UHN6:p.Arg245Lys SP substitution exon 1 VAR_032670 Q9UHN6:p.Arg291His SP substitution exon 1 VAR_032671 Q9UHN6:p.Asp423Glu SP substitution exon 1 VAR_032672 Q9UHN6:p.Pro765Ser SP substitution exon 1 VAR_032673 Q9UHN6:p.Ile1010Val SP substitution exon 1 VAR_032674 Q9UHN6:p.Ser1254Asn SP substitution exon 1 VAR_032675 Q9UHN6:p.Gly1280Asp SP substitution exon 1 VAR_032676 P00519:p.Arg47Gly SP substitution exon 1 VAR_032677 P00519:p.Arg166Lys SP substitution exon 1 VAR_032678 P00519:p.Pro810Leu SP substitution exon 1 VAR_032679 Q6ZMQ8:p.Ser81Phe SP substitution exon 1 VAR_032680 Q6ZMQ8:p.Leu97Val SP substitution exon 1 VAR_032681 Q6ZMQ8:p.Met104Val SP substitution exon 1 VAR_032682 Q6ZMQ8:p.Gly703Cys SP substitution exon 1 VAR_032683 Q6ZMQ8:p.Ser815Arg SP substitution exon 1 VAR_032684 Q6ZMQ8:p.Ser923Leu SP substitution exon 1 VAR_032685 Q6ZMQ8:p.Glu1160Lys SP substitution exon 1 VAR_032686 Q6ZMQ8:p.Pro1192Ser SP substitution exon 1 VAR_032687 Q6ZMQ8:p.Phe1266Ser SP substitution exon 1 VAR_032689 Q9NVI1:p.Pro55Leu SP substitution exon 1 VAR_032690 Q9NVI1:p.Ala86Val SP substitution exon 1 VAR_032695 O60674:p.Lys539Leu SP substitution exon 1 VAR_032696 O60674:p.Lys607Asn SP substitution exon 1 VAR_032697 O60674:p.Val617Phe SP substitution exon 1 VAR_032698 P12259:p.Ile387Thr SP substitution exon 1 VAR_032699 P12259:p.Cys613Arg SP substitution exon 1 VAR_032700 P12259:p.Tyr1730Cys SP substitution exon 1 VAR_032701 P12259:p.Arg2102Cys SP substitution exon 1 VAR_032702 P01241:p.Cys79Ser SP substitution exon 1 VAR_032703 P01241:p.Ile205Met SP substitution exon 1 VAR_032705 Q92847:p.Ala204Glu SP substitution exon 1 VAR_032706 P54652:p.Cys191Ser SP substitution exon 1 VAR_032707 P54652:p.Lys496Glu SP substitution exon 1 VAR_032708 Q8N554:p.Trp263Arg SP substitution exon 1 VAR_032709 Q8N554:p.Arg351Trp SP substitution exon 1 VAR_032710 Q9P0W0:p.Ile97Asn SP substitution exon 1 VAR_032711 P54868:p.Phe174Leu SP substitution exon 1 VAR_032712 P51587:p.Thr64Ile SP substitution exon 1 VAR_032713 P51587:p.Arg118His SP substitution exon 1 VAR_032714 P51587:p.Met192Thr SP substitution exon 1 VAR_032715 P51587:p.Thr225Ala SP substitution exon 1 VAR_032716 P51587:p.Cys315Ser SP substitution exon 1 VAR_032717 P51587:p.Ser326Arg SP substitution exon 1 VAR_032718 P51587:p.Ile505Thr SP substitution exon 1 VAR_032719 P51587:p.Ile729Met SP substitution exon 1 VAR_032720 P51587:p.Ser1172Leu SP substitution exon 1 VAR_032721 P51587:p.Leu1522Phe SP substitution exon 1 VAR_032722 P51587:p.Lys1690Asn SP substitution exon 1 VAR_032723 P51587:p.Asn1730Tyr SP substitution exon 1 VAR_032724 P51587:p.Thr1887Met SP substitution exon 1 VAR_032725 P51587:p.Val1988Ile SP substitution exon 1 VAR_032726 P51587:p.Gly2044Val SP substitution exon 1 VAR_032727 P51587:p.Arg2108Cys SP substitution exon 1 VAR_032728 P51587:p.Asn2135His SP substitution exon 1 VAR_032729 P51587:p.Tyr2222Cys SP substitution exon 1 VAR_032730 P51587:p.Arg2336His SP substitution exon 1 VAR_032731 P51587:p.Gln2456Glu SP substitution exon 1 VAR_032732 P51587:p.Leu2510Pro SP substitution exon 1 VAR_032733 P51587:p.Trp2626Cys SP substitution exon 1 VAR_032734 P51587:p.Arg2842Cys SP substitution exon 1 VAR_032735 P51587:p.Pro3300Ser SP substitution exon 1 VAR_032737 Q9H3D4:p.Lys232Glu SP substitution exon 1 VAR_032738 Q9H3D4:p.Arg266Gln SP substitution exon 1 VAR_032739 Q9H3D4:p.Cys308Tyr SP substitution exon 1 VAR_032740 Q9H3D4:p.Ser311Asn SP substitution exon 1 VAR_032741 Q9H3D4:p.Arg318Cys SP substitution exon 1 VAR_032742 Q9H3D4:p.Arg318Gln SP substitution exon 1 VAR_032743 Q9H3D4:p.Arg319His SP substitution exon 1 VAR_032744 Q9H3D4:p.Arg319Ser SP substitution exon 1 VAR_032745 Q9H3D4:p.Arg343Trp SP substitution exon 1 VAR_032746 Q9H3D4:p.Cys347Ser SP substitution exon 1 VAR_032747 Q9H3D4:p.Pro348Ser SP substitution exon 1 VAR_032748 Q9H3D4:p.Asp351His SP substitution exon 1 VAR_032749 P29033:p.Trp44Ser SP substitution exon 1 VAR_032750 P29033:p.Asn54Lys SP substitution exon 1 VAR_032751 P29033:p.Gly59Ser SP substitution exon 1 VAR_032752 P29033:p.Asp179Asn SP substitution exon 1 VAR_032753 P45452:p.Phe75Ser SP substitution exon 1 VAR_032754 Q02809:p.Glu67Asp SP substitution exon 1 VAR_032755 Q02809:p.Ala84Thr SP substitution exon 1 VAR_032756 Q02809:p.Ala120Ser SP substitution exon 1 VAR_032757 P54868:p.Val54Met SP substitution exon 1 VAR_032758 P54868:p.Tyr167Cys SP substitution exon 1 VAR_032759 P54868:p.Gly212Arg SP substitution exon 1 VAR_032761 P10124:p.Arg31Gln SP substitution exon 1 VAR_032762 Q9UBQ7:p.Arg170Gln SP substitution exon 1 VAR_032763 Q9Y5B0:p.Leu755Ser SP substitution exon 1 VAR_032764 Q96MN2:p.Arg708His SP substitution exon 1 VAR_032766 Q8NI51:p.Gln525Glu SP substitution exon 1 VAR_032767 P42330:p.Arg66Gln SP substitution exon 1 VAR_032768 P42330:p.Arg170Cys SP substitution exon 1 VAR_032769 P42330:p.Pro180Ser SP substitution exon 1 VAR_032770 Q9GZQ4:p.Pro383Leu SP substitution exon 1 VAR_032771 Q9UBM1:p.Val58Ile SP substitution exon 1 VAR_032774 P07942:p.Gly860Ser SP substitution exon 1 VAR_032775 Q9H665:p.Trp189Arg SP substitution exon 1 VAR_032776 P07992:p.Phe231Leu SP substitution exon 1 VAR_032786 Q9NSB4:p.Glu219Gln SP substitution exon 1 VAR_032787 Q9NSB4:p.Glu452Asp SP substitution exon 1 VAR_032788 Q96RR4:p.Ser10Asn SP substitution exon 1 VAR_032789 P11586:p.Thr761Met SP substitution exon 1 VAR_032790 P11586:p.Leu769Phe SP substitution exon 1 VAR_032791 O76024:p.Pro16Leu SP substitution exon 1 VAR_032792 Q07912:p.Arg34Leu SP substitution exon 1 VAR_032793 Q07912:p.Lys71Arg SP substitution exon 1 VAR_032794 Q07912:p.Arg99Gln SP substitution exon 1 VAR_032795 Q07912:p.Arg99Trp SP substitution exon 1 VAR_032796 Q07912:p.Thr152Met SP substitution exon 1 VAR_032797 Q07912:p.Glu346Lys SP substitution exon 1 VAR_032798 Q07912:p.Met409Ile SP substitution exon 1 VAR_032799 Q07912:p.Pro507Ser SP substitution exon 1 VAR_032800 Q07912:p.Pro725Leu SP substitution exon 1 VAR_032801 Q07912:p.Arg748Gln SP substitution exon 1 VAR_032802 Q07912:p.Arg1038His SP substitution exon 1 VAR_032803 A0AVI4:p.Leu83Ile SP substitution exon 1 VAR_032804 Q9BYB0:p.Arg12Cys SP substitution exon 1 VAR_032805 Q9BYB0:p.Ala198Gly SP substitution exon 1 VAR_032806 Q9BYB0:p.Ala224Thr SP substitution exon 1 VAR_032807 Q9BYB0:p.Ile245Thr SP substitution exon 1 VAR_032808 Q9BYB0:p.Arg300Cys SP substitution exon 1 VAR_032809 P27037:p.Ser258Arg SP substitution exon 1 VAR_032810 P27037:p.Asp306Asn SP substitution exon 1 VAR_032811 Q9NVV0:p.Cys254Ser SP substitution exon 1 VAR_032812 Q96A28:p.Val86Met SP substitution exon 1 VAR_032813 Q96A28:p.Asp164His SP substitution exon 1 VAR_032814 Q96A28:p.Glu181Lys SP substitution exon 1 VAR_032815 P00450:p.Arg367Cys SP substitution exon 1 VAR_032816 Q9NYZ3:p.Thr181Ala SP substitution exon 1 VAR_032817 Q9NYZ3:p.Ala200Val SP substitution exon 1 VAR_032818 Q9NYZ3:p.Ala274Thr SP substitution exon 1 VAR_032819 Q9NYZ3:p.Ser322Asn SP substitution exon 1 VAR_032820 Q9NYZ3:p.Asp463Glu SP substitution exon 1 VAR_032822 P01833:p.Thr555Ile SP substitution exon 1 VAR_032823 Q9UEE5:p.Glu286Gln SP substitution exon 1 VAR_032824 Q8N119:p.Asp263Glu SP substitution exon 1 VAR_032825 Q96NT5:p.Arg113Ser SP substitution exon 1 VAR_032826 Q96NT5:p.Gly147Arg SP substitution exon 1 VAR_032827 Q96NT5:p.Ser318Arg SP substitution exon 1 VAR_032828 Q96NT5:p.Arg376Trp SP substitution exon 1 VAR_032829 Q96NT5:p.Pro425Arg SP substitution exon 1 VAR_032831 O43294:p.Gln129His SP substitution exon 1 VAR_032832 O95382:p.Thr455Ile SP substitution exon 1 VAR_032833 O95382:p.Asn622Lys SP substitution exon 1 VAR_032834 O95382:p.Ser969Asn SP substitution exon 1 VAR_032835 Q6NTF7:p.Arg18Leu SP substitution exon 1 VAR_032836 Q6NTF7:p.Gly105Arg SP substitution exon 1 VAR_032837 Q6NTF7:p.Lys121Glu SP substitution exon 1 VAR_032838 Q6NTF7:p.Lys121Asn SP substitution exon 1 VAR_032839 Q6NTF7:p.Glu178Asp SP substitution exon 1 VAR_032840 P0C862:p.Met219Val SP substitution exon 1 VAR_032841 P0C862:p.Val301Met SP substitution exon 1 VAR_032842 Q12840:p.Asn256Ser SP substitution exon 1 VAR_032843 Q12840:p.Arg280Cys SP substitution exon 1 VAR_032844 Q12840:p.Ala361Val SP substitution exon 1 VAR_032846 O75718:p.Glu137Asp SP substitution exon 1 VAR_032847 Q9Y5Y6:p.Met285Ile SP substitution exon 1 VAR_032848 Q9Y5Y6:p.Arg381Ser SP substitution exon 1 VAR_032849 Q9Y5Y6:p.Gly827Arg SP substitution exon 1 VAR_032850 Q00325:p.Gly72Glu SP substitution exon 1 VAR_032851 Q9UPQ8:p.Cys99Ser SP substitution exon 1 VAR_032852 Q9UPQ8:p.Tyr441Ser SP substitution exon 1 VAR_032853 P29323:p.Arg199His SP substitution exon 1 VAR_032854 P29323:p.Ala279Ser SP substitution exon 1 VAR_032855 P29323:p.Val650Ala SP substitution exon 1 VAR_032856 P29323:p.His679Asn SP substitution exon 1 VAR_032857 P29323:p.Met883Val SP substitution exon 1 VAR_032858 P29323:p.Ile909Met SP substitution exon 1 VAR_032859 Q8NA66:p.Asp64Asn SP substitution exon 1 VAR_032860 Q8NA66:p.Gln69Lys SP substitution exon 1 VAR_032861 Q9BSK2:p.Leu242Ile SP substitution exon 1 VAR_032862 Q96DW6:p.Arg66Gly SP substitution exon 1 VAR_032863 Q8TBP6:p.Thr123Ile SP substitution exon 1 VAR_032864 Q8TBP6:p.Lys186Gln SP substitution exon 1 VAR_032865 Q8WUT9:p.Pro334Leu SP substitution exon 1 VAR_032866 Q8N413:p.Met224Val SP substitution exon 1 VAR_032867 A2IDD5:p.Trp252Arg SP substitution exon 1 VAR_032868 Q6PB30:p.Tyr28Phe SP substitution exon 1 VAR_032869 Q96AZ1:p.Ser28Leu SP substitution exon 1 VAR_032870 P53999:p.Ser11Gly SP substitution exon 1 VAR_032871 P55000:p.Trp15Arg SP substitution exon 1 VAR_032872 P55000:p.Arg71His SP substitution exon 1 VAR_032873 P55000:p.Cys77Arg SP substitution exon 1 VAR_032874 P55000:p.Gly86Arg SP substitution exon 1 VAR_032875 P55000:p.Cys99Tyr SP substitution exon 1 VAR_032877 Q5T0N1:p.Trp849Leu SP substitution exon 1 VAR_032878 Q5T0N1:p.Asn944Asp SP substitution exon 1 VAR_032879 Q8NDW8:p.Arg91Gln SP substitution exon 1 VAR_032880 Q8NDW8:p.Val108Leu SP substitution exon 1 VAR_032881 Q8NDW8:p.Arg290Lys SP substitution exon 1 VAR_032882 Q8NDW8:p.Glu293Lys SP substitution exon 1 VAR_032883 Q8NDW8:p.Arg622Trp SP substitution exon 1 VAR_032884 Q8NDW8:p.Arg719Gln SP substitution exon 1 VAR_032885 Q8NDW8:p.Arg1055Leu SP substitution exon 1 VAR_032886 Q8NDW8:p.Ser1160Arg SP substitution exon 1 VAR_032887 Q8NDW8:p.Arg1316Lys SP substitution exon 1 VAR_032888 Q7Z4L5:p.Val201Met SP substitution exon 1 VAR_032889 Q7Z4L5:p.Thr276Ala SP substitution exon 1 VAR_032890 Q7Z4L5:p.Pro463Ser SP substitution exon 1 VAR_032891 Q7Z4L5:p.Leu473Phe SP substitution exon 1 VAR_032892 Q7Z4L5:p.Lys846Arg SP substitution exon 1 VAR_032893 Q7L0X2:p.Gly9Val SP substitution exon 1 VAR_032894 Q7L0X2:p.Gly433Arg SP substitution exon 1 VAR_032895 Q49AG3:p.Ala17Val SP substitution exon 1 VAR_032896 Q49AG3:p.Gln47Arg SP substitution exon 1 VAR_032897 Q49AG3:p.Pro77Ser SP substitution exon 1 VAR_032898 Q9H9V9:p.Ala11Val SP substitution exon 1 VAR_032899 Q9H9V9:p.Gly16Cys SP substitution exon 1 VAR_032900 Q9H9V9:p.Asp65Glu SP substitution exon 1 VAR_032901 Q9H9V9:p.Ala461Val SP substitution exon 1 VAR_032904 Q6ZN57:p.Gln113His SP substitution exon 1 VAR_032905 Q6ZN57:p.Arg142Gly SP substitution exon 1 VAR_032906 Q8NFZ8:p.Thr225Ala SP substitution exon 1 VAR_032907 Q9BQ95:p.Arg278Cys SP substitution exon 1 VAR_032908 Q9BQ95:p.Gly406Arg SP substitution exon 1 VAR_032910 P21817:p.Arg109Trp SP substitution exon 1 VAR_032911 P21817:p.Met485Val SP substitution exon 1 VAR_032912 P21817:p.Arg1109Lys SP substitution exon 1 VAR_032913 P21817:p.Ser1342Gly SP substitution exon 1 VAR_032914 P21817:p.Ser1489Asn SP substitution exon 1 VAR_032915 P21817:p.Met2423Lys SP substitution exon 1 VAR_032916 P21817:p.Gln3756Glu SP substitution exon 1 VAR_032917 P68133:p.Leu223Pro SP substitution exon 1 VAR_032918 P68133:p.Asp294Val SP substitution exon 1 VAR_032919 P68133:p.Pro334Ser SP substitution exon 1 VAR_032921 Q15813:p.Val205Ala SP substitution exon 1 VAR_032922 Q15813:p.Ser333Thr SP substitution exon 1 VAR_032923 Q15813:p.Glu409Gly SP substitution exon 1 VAR_032927 O15054:p.Ser308Leu SP substitution exon 1 VAR_032928 Q8N371:p.Glu302Asp SP substitution exon 1 VAR_032929 Q8N8W4:p.Pro423His SP substitution exon 1 VAR_032930 Q8N8W4:p.Thr490Met SP substitution exon 1 VAR_032931 Q8N8W4:p.Ser522Pro SP substitution exon 1 VAR_032932 Q7Z6Z6:p.Leu140Phe SP substitution exon 1 VAR_032933 Q7Z6Z6:p.Thr200Ile SP substitution exon 1 VAR_032934 Q7Z6Z6:p.Trp286Arg SP substitution exon 1 VAR_032935 Q8WXB1:p.Thr192Ile SP substitution exon 1 VAR_032936 Q9Y232:p.Thr2Ala SP substitution exon 1 VAR_032937 Q9Y232:p.Ser9Pro SP substitution exon 1 VAR_032938 Q9Y232:p.Val48Ala SP substitution exon 1 VAR_032939 Q9Y232:p.Ala60Gly SP substitution exon 1 VAR_032940 Q9NSU2:p.Asp255Asn SP substitution exon 1 VAR_032941 Q8N196:p.Ala158Thr SP substitution exon 1 VAR_032942 Q8N196:p.Ala296Thr SP substitution exon 1 VAR_032943 Q8N196:p.Gly365Arg SP substitution exon 1 VAR_032944 Q8N196:p.Thr552Met SP substitution exon 1 VAR_032945 Q8N196:p.Leu556Val SP substitution exon 1 VAR_032946 Q8N196:p.Pro635Ser SP substitution exon 1 VAR_032947 Q8N196:p.Val693Met SP substitution exon 1 VAR_032948 Q8N427:p.Arg43Lys SP substitution exon 1 VAR_032949 Q8IY17:p.Ala403Pro SP substitution exon 1 VAR_032950 Q8IY17:p.Lys1024Arg SP substitution exon 1 VAR_032951 Q96F45:p.Asn509Lys SP substitution exon 1 VAR_032952 Q13635:p.Ala393Thr SP substitution exon 1 VAR_032953 Q13635:p.Ala443Gly SP substitution exon 1 VAR_032954 Q13635:p.Thr728Met SP substitution exon 1 VAR_032955 Q13635:p.Val751Gly SP substitution exon 1 VAR_032956 Q13635:p.Ser827Gly SP substitution exon 1 VAR_032957 Q13635:p.Val908Gly SP substitution exon 1 VAR_032958 Q13635:p.Thr1052Met SP substitution exon 1 VAR_032959 Q86YC2:p.Ile309Val SP substitution exon 1 VAR_032960 Q9HCK4:p.Ile945Thr SP substitution exon 1 VAR_032961 Q9HCK4:p.Ala1236Thr SP substitution exon 1 VAR_032962 O76024:p.Gly107Arg SP substitution exon 1 VAR_032963 O76024:p.Lys634Thr SP substitution exon 1 VAR_032964 O76024:p.Thr699Met SP substitution exon 1 VAR_032970 Q86VD7:p.Ser39Pro SP substitution exon 1 VAR_032971 Q86VD7:p.Leu312Met SP substitution exon 1 VAR_032972 Q14031:p.Pro1126Ser SP substitution exon 1 VAR_032973 Q14031:p.Ile1162Val SP substitution exon 1 VAR_032974 Q14031:p.Leu1362Pro SP substitution exon 1 VAR_032975 P10070:p.Arg479Gly SP substitution exon 1 VAR_032976 P10070:p.Pro932Ser SP substitution exon 1 VAR_032979 P38435:p.Phe299Ser SP substitution exon 1 VAR_032980 P38435:p.Arg476Cys SP substitution exon 1 VAR_032981 P38435:p.Arg476His SP substitution exon 1 VAR_032982 P38435:p.Trp493Ser SP substitution exon 1 VAR_032983 P38435:p.Gly558Arg SP substitution exon 1 VAR_032984 P29375:p.Met865Thr SP substitution exon 1 VAR_032985 P29375:p.Pro1190Ala SP substitution exon 1 VAR_032986 P41229:p.Asp87Gly SP substitution exon 1 VAR_032987 P41229:p.Ser451Arg SP substitution exon 1 VAR_032988 P41229:p.Phe642Leu SP substitution exon 1 VAR_032989 P41229:p.Arg750Trp SP substitution exon 1 VAR_032990 P41229:p.Tyr751Cys SP substitution exon 1 VAR_032991 Q9BY66:p.Val1186Leu SP substitution exon 1 VAR_032992 Q8NCW5:p.Val19Leu SP substitution exon 1 VAR_032993 Q86UD1:p.His210Arg SP substitution exon 1 VAR_032994 Q86UD1:p.Arg217His SP substitution exon 1 VAR_032995 Q96AD5:p.Pro195Leu SP substitution exon 1 VAR_032996 Q96AD5:p.Leu219Phe SP substitution exon 1 VAR_032997 Q96AD5:p.Asn252Lys SP substitution exon 1 VAR_032998 Q96AD5:p.Leu481Pro SP substitution exon 1 VAR_032999 O95727:p.Lys321Arg SP substitution exon 1 VAR_033000 O95727:p.Ala368Gly SP substitution exon 1 VAR_033001 Q5T1V6:p.Ser472Arg SP substitution exon 1 VAR_033002 P98168:p.Gly376Ser SP substitution exon 1 VAR_033003 P98169:p.Ala736Thr SP substitution exon 1 VAR_033004 P98169:p.Asn760Ser SP substitution exon 1 VAR_033005 P98169:p.Asp764Asn SP substitution exon 1 VAR_033006 P98169:p.Thr791Arg SP substitution exon 1 VAR_033007 P51857:p.Leu106Phe SP substitution exon 1 VAR_033009 Q9Y5K2:p.Gly159Asp SP substitution exon 1 VAR_033010 P22223:p.Asn322Ile SP substitution exon 1 VAR_033012 P49281:p.Gly212Val SP substitution exon 1 VAR_033013 P49281:p.Glu399Asp SP substitution exon 1 VAR_033014 P49281:p.Arg416Cys SP substitution exon 1 VAR_033015 P01225:p.Cys69Gly SP substitution exon 1 VAR_033016 P55072:p.Arg95Gly SP substitution exon 1 VAR_033017 P55072:p.Arg155Cys SP substitution exon 1 VAR_033018 P55072:p.Arg155His SP substitution exon 1 VAR_033019 P55072:p.Arg155Pro SP substitution exon 1 VAR_033020 P55072:p.Arg159His SP substitution exon 1 VAR_033021 P55072:p.Arg191Gln SP substitution exon 1 VAR_033022 P55072:p.Ala232Glu SP substitution exon 1 VAR_033024 O75084:p.Gly24Ser SP substitution exon 1 VAR_033025 P23771:p.Arg366Leu SP substitution exon 1 VAR_033026 P12830:p.Met282Ile SP substitution exon 1 VAR_033027 P12830:p.Asp777Asn SP substitution exon 1 VAR_033028 P03372:p.His6Tyr SP substitution exon 1 VAR_033029 P03372:p.Met264Ile SP substitution exon 1 VAR_033030 Q969H0:p.Glu117Lys SP substitution exon 1 VAR_033031 Q8TDY2:p.Arg1514Cys SP substitution exon 1 VAR_033032 Q53FA7:p.Met180Lys SP substitution exon 1 VAR_033033 P04637:p.Phe113Val SP substitution exon 1 VAR_033034 P04637:p.Ala138Val SP substitution exon 1 VAR_033035 P04637:p.Tyr163Cys SP substitution exon 1 VAR_033036 P04637:p.Ser241Ala SP substitution exon 1 VAR_033037 P04637:p.Arg249Met SP substitution exon 1 VAR_033038 P04637:p.Ile251Ser SP substitution exon 1 VAR_033039 P04637:p.Asp259Tyr SP substitution exon 1 VAR_033040 P08123:p.Asn528Ser SP substitution exon 1 VAR_033041 P08123:p.Ala564Thr SP substitution exon 1 VAR_033042 Q16851:p.Met268Ile SP substitution exon 1 VAR_033043 Q63HR2:p.Ser353Thr SP substitution exon 1 VAR_033044 Q8NHU6:p.Pro456Leu SP substitution exon 1 VAR_033046 Q5T5S1:p.Met38Thr SP substitution exon 1 VAR_033047 Q5T5S1:p.Leu113Arg SP substitution exon 1 VAR_033048 Q5T5S1:p.Asp129Ala SP substitution exon 1 VAR_033049 Q5T5S1:p.Trp342Arg SP substitution exon 1 VAR_033054 Q9UJQ4:p.His888Arg SP substitution exon 1 VAR_033060 Q6ZV29:p.Arg323Gln SP substitution exon 1 VAR_033061 Q6ZV29:p.Gln364Glu SP substitution exon 1 VAR_033062 Q6ZV29:p.Glu368Asp SP substitution exon 1 VAR_033063 Q6ZV29:p.Val803Ala SP substitution exon 1 VAR_033064 Q6ZV29:p.Val824Met SP substitution exon 1 VAR_033065 Q6ZV29:p.Pro908Leu SP substitution exon 1 VAR_033066 Q6ZV29:p.Leu993Met SP substitution exon 1 VAR_033067 P14618:p.Gly204Val SP substitution exon 1 VAR_033069 O75369:p.Phe161Cys SP substitution exon 1 VAR_033070 O75369:p.Gly168Ser SP substitution exon 1 VAR_033071 O75369:p.Leu171Arg SP substitution exon 1 VAR_033072 O75369:p.Ala173Val SP substitution exon 1 VAR_033073 O75369:p.Ser188Pro SP substitution exon 1 VAR_033074 O75369:p.Met202Val SP substitution exon 1 VAR_033075 O75369:p.Glu227Lys SP substitution exon 1 VAR_033076 O75369:p.Leu234Val SP substitution exon 1 VAR_033077 O75369:p.Ser235Pro SP substitution exon 1 VAR_033078 O75369:p.Gly361Ser SP substitution exon 1 VAR_033079 O75369:p.Gly363Glu SP substitution exon 1 VAR_033080 O75369:p.Gly751Arg SP substitution exon 1 VAR_033081 O75369:p.Leu1431Arg SP substitution exon 1 VAR_033083 O75369:p.Gly1586Arg SP substitution exon 1 VAR_033084 O75369:p.Val1592Asp SP substitution exon 1 VAR_033085 O75369:p.Pro1603Leu SP substitution exon 1 VAR_033086 O75369:p.Gly1691Ser SP substitution exon 1 VAR_033087 O75369:p.Gly1834Arg SP substitution exon 1 VAR_033088 P20823:p.Asn127Tyr SP substitution exon 1 VAR_033089 P20823:p.Trp165Cys SP substitution exon 1 VAR_033090 P20823:p.Trp206Cys SP substitution exon 1 VAR_033091 P20823:p.Trp206Leu SP substitution exon 1 VAR_033092 P20823:p.Asn237Ser SP substitution exon 1 VAR_033093 P20823:p.Arg244Gly SP substitution exon 1 VAR_033094 P20823:p.Gln250Pro SP substitution exon 1 VAR_033095 P20823:p.Phe268Cys SP substitution exon 1 VAR_033096 P20823:p.Lys273Glu SP substitution exon 1 VAR_033097 P02452:p.Arg1014Cys SP substitution exon 1 VAR_033098 P11597:p.Arg154Trp SP substitution exon 1 VAR_033099 P11597:p.Leu168Pro SP substitution exon 1 VAR_033100 P11597:p.Arg299Cys SP substitution exon 1 VAR_033101 Q9UHD8:p.Arg106Trp SP substitution exon 1 VAR_033102 Q9UHD8:p.Ser111Phe SP substitution exon 1 VAR_033103 Q9H6K4:p.Gly93Ser SP substitution exon 1 VAR_033104 Q9H6K4:p.Gln105Glu SP substitution exon 1 VAR_033105 Q9UPQ0:p.Met759Thr SP substitution exon 1 VAR_033106 Q3KQV3:p.Arg177Gln SP substitution exon 1 VAR_033108 Q12840:p.Tyr276Cys SP substitution exon 1 VAR_033109 Q13873:p.Gln82His SP substitution exon 1 VAR_033110 Q13873:p.Gly182Asp SP substitution exon 1 VAR_033111 Q13873:p.Arg899Pro SP substitution exon 1 VAR_033112 Q93074:p.Arg961Trp SP substitution exon 1 VAR_033113 O75462:p.Trp76Gly SP substitution exon 1 VAR_033114 P15976:p.Arg216Gln SP substitution exon 1 VAR_033115 P15976:p.Asp218Tyr SP substitution exon 1 VAR_033116 Q9C0F1:p.Gly147Ser SP substitution exon 1 VAR_033118 Q6NT55:p.Ser178Cys SP substitution exon 1 VAR_033119 Q6NT55:p.Lys505Gln SP substitution exon 1 VAR_033120 Q4G0S4:p.Thr359Met SP substitution exon 1 VAR_033121 P57081:p.Pro266Ser SP substitution exon 1 VAR_033123 P10721:p.Lys550Ile SP substitution exon 1 VAR_033126 P10721:p.Val559Ala SP substitution exon 1 VAR_033127 P10721:p.Val559Asp SP substitution exon 1 VAR_033129 P10721:p.Phe584Cys SP substitution exon 1 VAR_033130 P10721:p.Gly601Arg SP substitution exon 1 VAR_033131 P10721:p.Leu656Pro SP substitution exon 1 VAR_033132 P10721:p.Arg796Gly SP substitution exon 1 VAR_033133 P10721:p.Asp816Phe SP substitution exon 1 VAR_033134 P10721:p.Asp816His SP substitution exon 1 VAR_033135 P10721:p.Asp820Gly SP substitution exon 1 VAR_033136 P10721:p.Glu839Lys SP substitution exon 1 VAR_033137 P10721:p.Thr847Pro SP substitution exon 1 VAR_033138 Q15831:p.Tyr49Asp SP substitution exon 1 VAR_033139 Q15831:p.Gly135Arg SP substitution exon 1 VAR_033140 Q15831:p.Gly163Asp SP substitution exon 1 VAR_033141 Q15831:p.Asp194Tyr SP substitution exon 1 VAR_033142 Q15831:p.Trp239Cys SP substitution exon 1 VAR_033144 Q15831:p.Pro315Ser SP substitution exon 1 VAR_033145 P13645:p.Arg422Glu SP substitution exon 1 VAR_033146 Q17RQ9:p.Val118Leu SP substitution exon 1 VAR_033147 Q6ZP01:p.Asp52His SP substitution exon 1 VAR_033148 Q6ZP01:p.Asn892His SP substitution exon 1 VAR_033150 Q8N9H6:p.Leu39Pro SP substitution exon 1 VAR_033151 Q6NVH7:p.Asp171Gly SP substitution exon 1 VAR_033152 Q8IYL3:p.Thr53Arg SP substitution exon 1 VAR_033153 Q8IYL3:p.Ala101Ser SP substitution exon 1 VAR_033154 Q9H741:p.Gln55Arg SP substitution exon 1 VAR_033157 Q8IYS4:p.Glu88Asp SP substitution exon 1 VAR_033158 Q8IYS4:p.Pro143Ser SP substitution exon 1 VAR_033159 Q8IYS4:p.Ser190Leu SP substitution exon 1 VAR_033160 Q8IYS4:p.Glu232Lys SP substitution exon 1 VAR_033161 Q8IYS4:p.Ala241Val SP substitution exon 1 VAR_033162 Q8IYS4:p.Arg302Cys SP substitution exon 1 VAR_033163 Q8IYS4:p.Gln354Arg SP substitution exon 1 VAR_033164 Q6ZMJ4:p.Glu123Gln SP substitution exon 1 VAR_033165 Q0VGE8:p.Ile80Asn SP substitution exon 1 VAR_033166 Q0VGE8:p.Ser162Leu SP substitution exon 1 VAR_033167 Q6ZN06:p.Arg231Lys SP substitution exon 1 VAR_033168 Q6ZN06:p.Tyr439Phe SP substitution exon 1 VAR_033170 Q6PI73:p.Leu69Trp SP substitution exon 1 VAR_033171 Q6PI73:p.Gly149Arg SP substitution exon 1 VAR_033172 Q6PI73:p.Pro288Arg SP substitution exon 1 VAR_033173 Q6PI73:p.Tyr400His SP substitution exon 1 VAR_033174 Q6ZMC9:p.Phe273Leu SP substitution exon 1 VAR_033175 Q96K30:p.Thr220Lys SP substitution exon 1 VAR_033176 Q6P6B1:p.Arg59His SP substitution exon 1 VAR_033177 Q6P6B1:p.Gln244Pro SP substitution exon 1 VAR_033178 Q6P6B1:p.His287Arg SP substitution exon 1 VAR_033179 Q8NA56:p.Leu94Pro SP substitution exon 1 VAR_033180 Q8NA56:p.His140Tyr SP substitution exon 1 VAR_033181 Q8NA56:p.Ala276Thr SP substitution exon 1 VAR_033183 Q9NWY4:p.Arg174Lys SP substitution exon 1 VAR_033184 Q9NWY4:p.Glu331Asp SP substitution exon 1 VAR_033185 Q6NT16:p.Val204Ile SP substitution exon 1 VAR_033186 Q5JVX7:p.Glu85Gly SP substitution exon 1 VAR_033187 Q5JVX7:p.Val189Ile SP substitution exon 1 VAR_033188 Q8N434:p.Phe385Cys SP substitution exon 1 VAR_033191 A4QPB2:p.Thr61Met SP substitution exon 1 VAR_033192 Q5TF39:p.Ser93Pro SP substitution exon 1 VAR_033193 Q9H4E7:p.Asn287Thr SP substitution exon 1 VAR_033194 Q9H4E7:p.Arg578His SP substitution exon 1 VAR_033195 Q2TAK8:p.Gly219Arg SP substitution exon 1 VAR_033196 Q2TAK8:p.Gly551Ala SP substitution exon 1 VAR_033197 Q92766:p.Gly195Arg SP substitution exon 1 VAR_033198 Q92766:p.Gly783Val SP substitution exon 1 VAR_033199 Q92766:p.Asp1171Asn SP substitution exon 1 VAR_033200 Q92766:p.Gly1384Arg SP substitution exon 1 VAR_033201 Q92766:p.Leu1467Pro SP substitution exon 1 VAR_033202 Q92766:p.Ser1499Tyr SP substitution exon 1 VAR_033203 Q99856:p.Pro36His SP substitution exon 1 VAR_033204 Q99856:p.Lys320Glu SP substitution exon 1 VAR_033205 Q99856:p.Gly556Ser SP substitution exon 1 VAR_033207 Q6P3X3:p.Tyr476Cys SP substitution exon 1 VAR_033208 Q6P3X3:p.Arg525His SP substitution exon 1 VAR_033209 Q8TF30:p.Gln340Lys SP substitution exon 1 VAR_033210 Q8TF30:p.Arg345Gln SP substitution exon 1 VAR_033211 Q8TF30:p.Arg686His SP substitution exon 1 VAR_033212 Q6DJT9:p.Pro458Thr SP substitution exon 1 VAR_033213 Q8TBJ5:p.Pro164Thr SP substitution exon 1 VAR_033214 Q8TBJ5:p.Ser250Trp SP substitution exon 1 VAR_033215 A4D161:p.Tyr20His SP substitution exon 1 VAR_033216 A4D161:p.Ala90Thr SP substitution exon 1 VAR_033217 A4D161:p.Cys95Arg SP substitution exon 1 VAR_033218 A4D161:p.His128Arg SP substitution exon 1 VAR_033219 A4D161:p.Ser240Gly SP substitution exon 1 VAR_033220 Q5SZB4:p.Arg248Lys SP substitution exon 1 VAR_033221 Q5SZB4:p.Arg312Gln SP substitution exon 1 VAR_033222 Q5SZB4:p.Arg381Gln SP substitution exon 1 VAR_033223 Q5SZB4:p.Lys415Arg SP substitution exon 1 VAR_033224 Q9NVE4:p.Phe217Leu SP substitution exon 1 VAR_033225 O94979:p.Ile263Val SP substitution exon 1 VAR_033226 O94979:p.Pro841Leu SP substitution exon 1 VAR_033227 O94979:p.Pro1055Thr SP substitution exon 1 VAR_033228 Q9NQW1:p.Val89Ala SP substitution exon 1 VAR_033229 Q9NQW1:p.Tyr100Cys SP substitution exon 1 VAR_033230 Q9NQW1:p.Leu129Phe SP substitution exon 1 VAR_033231 Q9NQW1:p.Ser332Ala SP substitution exon 1 VAR_033232 Q9NQW1:p.Pro372Ser SP substitution exon 1 VAR_033233 Q9NQW1:p.Ser527Arg SP substitution exon 1 VAR_033235 P53355:p.Val416Ile SP substitution exon 1 VAR_033237 O75469:p.Glu18Lys SP substitution exon 1 VAR_033239 Q9C000:p.Leu155His SP substitution exon 1 VAR_033240 Q9C000:p.Thr878Met SP substitution exon 1 VAR_033241 Q9C000:p.His1069Tyr SP substitution exon 1 VAR_033242 Q9C000:p.Met1119Val SP substitution exon 1 VAR_033243 Q9C000:p.Met1184Val SP substitution exon 1 VAR_033245 Q9P2D1:p.Trp1031Gly SP substitution exon 1 VAR_033246 Q9P2D1:p.Gln1214Arg SP substitution exon 1 VAR_033247 Q9P2D1:p.Leu1294Pro SP substitution exon 1 VAR_033248 Q9P2D1:p.Leu1815Pro SP substitution exon 1 VAR_033249 Q9P2D1:p.His2096Arg SP substitution exon 1 VAR_033250 Q9P2D1:p.Arg2319Ser SP substitution exon 1 VAR_033251 Q9P2D1:p.Phe2750Leu SP substitution exon 1 VAR_033252 Q32P28:p.Gly349Arg SP substitution exon 1 VAR_033253 Q32P28:p.Pro506Arg SP substitution exon 1 VAR_033254 Q32P28:p.Met549Ile SP substitution exon 1 VAR_033255 P42768:p.Pro58Arg SP substitution exon 1 VAR_033256 P42768:p.Leu270Pro SP substitution exon 1 VAR_033257 P42768:p.Ile481Asn SP substitution exon 1 VAR_033260 Q96QS3:p.Arg332Pro SP substitution exon 1 VAR_033261 Q96QS3:p.Thr333Asn SP substitution exon 1 VAR_033262 Q96QS3:p.Pro353Arg SP substitution exon 1 VAR_033263 Q96QS3:p.Ala521Thr SP substitution exon 1 VAR_033264 Q8N6W0:p.Phe65Leu SP substitution exon 1 VAR_033265 Q96J87:p.Arg152Pro SP substitution exon 1 VAR_033266 Q8NA57:p.Gln306Arg SP substitution exon 1 VAR_033267 Q8NA57:p.Arg322His SP substitution exon 1 VAR_033268 Q9HCM1:p.Ile59Val SP substitution exon 1 VAR_033269 Q9HCM1:p.His106Gln SP substitution exon 1 VAR_033270 Q9HCM1:p.Ile202Val SP substitution exon 1 VAR_033271 Q9HCM1:p.Leu250Pro SP substitution exon 1 VAR_033272 Q9HCM1:p.Arg309Gln SP substitution exon 1 VAR_033273 Q9HCM1:p.Ser346Asn SP substitution exon 1 VAR_033274 Q9HCM1:p.Ser352Gly SP substitution exon 1 VAR_033275 Q9HCM1:p.Ser433Thr SP substitution exon 1 VAR_033276 Q9HCM1:p.Ser518Pro SP substitution exon 1 VAR_033277 Q9HCM1:p.Phe954Ser SP substitution exon 1 VAR_033278 Q9HCM1:p.Thr1010Lys SP substitution exon 1 VAR_033279 Q9HCM1:p.Ser1208Cys SP substitution exon 1 VAR_033280 Q9HCM1:p.Val1226Ile SP substitution exon 1 VAR_033281 Q9HCM1:p.Thr1338Ala SP substitution exon 1 VAR_033282 Q9BQD3:p.Pro157Ala SP substitution exon 1 VAR_033283 Q96LB8:p.Ile13Leu SP substitution exon 1 VAR_033284 Q0VAF6:p.Leu111Met SP substitution exon 1 VAR_033285 Q96JG9:p.Arg366Ser SP substitution exon 1 VAR_033286 Q96JG9:p.Lys1162Glu SP substitution exon 1 VAR_033287 Q96JG9:p.Pro1420Leu SP substitution exon 1 VAR_033288 Q96JG9:p.Arg2129Lys SP substitution exon 1 VAR_033289 Q96JG9:p.Gly2358Arg SP substitution exon 1 VAR_033290 Q96JG9:p.Leu2670Gln SP substitution exon 1 VAR_033291 Q96JG9:p.Ala2710Thr SP substitution exon 1 VAR_033292 Q96JG9:p.Asp2749Val SP substitution exon 1 VAR_033293 Q96JG9:p.His2848Arg SP substitution exon 1 VAR_033294 Q96JG9:p.Glu3630Gln SP substitution exon 1 VAR_033295 Q96JG9:p.Thr3636Ala SP substitution exon 1 VAR_033296 Q96GZ6:p.Thr62Ala SP substitution exon 1 VAR_033297 Q99798:p.Ala768Ser SP substitution exon 1 VAR_033298 P49736:p.Glu166Gln SP substitution exon 1 VAR_033299 P49736:p.Gly501Arg SP substitution exon 1 VAR_033300 Q5T6L9:p.Ser540Gly SP substitution exon 1 VAR_033301 Q5TB80:p.Cys266Ser SP substitution exon 1 VAR_033302 Q5TB80:p.Glu272Gln SP substitution exon 1 VAR_033303 P63000:p.Thr135Ile SP substitution exon 1 VAR_033304 Q8NEC5:p.Gly133Ser SP substitution exon 1 VAR_033305 Q8NEC5:p.Val652Ile SP substitution exon 1 VAR_033306 Q8NEC5:p.Thr730Pro SP substitution exon 1 VAR_033307 Q96P56:p.Glu8Gly SP substitution exon 1 VAR_033308 Q96P56:p.Val57Ile SP substitution exon 1 VAR_033309 Q86XQ3:p.Asn204Lys SP substitution exon 1 VAR_033310 Q7RTX7:p.Gln77Arg SP substitution exon 1 VAR_033311 Q7RTX7:p.Leu124Phe SP substitution exon 1 VAR_033312 Q7RTX7:p.Ile293Val SP substitution exon 1 VAR_033314 Q6UXI9:p.Gln159His SP substitution exon 1 VAR_033315 Q6UXI9:p.Ile234Val SP substitution exon 1 VAR_033316 Q6UXI9:p.Gly473Ser SP substitution exon 1 VAR_033317 Q6UXI9:p.Met476Thr SP substitution exon 1 VAR_033318 Q5T4I8:p.Ala13Asp SP substitution exon 1 VAR_033319 Q99527:p.Pro16Leu SP substitution exon 1 VAR_033320 Q96AQ8:p.Ser108Gly SP substitution exon 1 VAR_033321 Q96AQ8:p.Thr216Ala SP substitution exon 1 VAR_033322 Q9GZT6:p.Phe10Leu SP substitution exon 1 VAR_033323 Q9P0P0:p.Tyr118His SP substitution exon 1 VAR_033324 Q4G0N8:p.Ile158Val SP substitution exon 1 VAR_033325 Q4G0N8:p.Ile286Val SP substitution exon 1 VAR_033326 Q4G0N8:p.Ile348Met SP substitution exon 1 VAR_033327 Q4G0N8:p.Thr424Ala SP substitution exon 1 VAR_033328 Q4G0N8:p.Thr705Ile SP substitution exon 1 VAR_033329 Q4G0N8:p.Gln732Lys SP substitution exon 1 VAR_033330 Q4G0N8:p.Ser768Ile SP substitution exon 1 VAR_033331 Q5TAH2:p.Thr481Met SP substitution exon 1 VAR_033332 Q5TAH2:p.Ala505Gly SP substitution exon 1 VAR_033334 Q8N1A6:p.Arg40Met SP substitution exon 1 VAR_033335 Q8N1A6:p.Ser104Leu SP substitution exon 1 VAR_033336 Q8N1A6:p.Met107Val SP substitution exon 1 VAR_033337 Q8N1A6:p.His166Arg SP substitution exon 1 VAR_033341 Q9Y2F5:p.Cys391Ser SP substitution exon 1 VAR_033342 Q9Y2F5:p.Lys596Glu SP substitution exon 1 VAR_033343 Q9Y2F5:p.Val901Ile SP substitution exon 1 VAR_033344 Q9Y2F5:p.Thr1054Ala SP substitution exon 1 VAR_033345 Q9Y2F5:p.Gly1058Asp SP substitution exon 1 VAR_033346 Q9Y2F5:p.Gln1597Pro SP substitution exon 1 VAR_033347 Q6ZU65:p.Pro1308Ala SP substitution exon 1 VAR_033348 Q3ZCQ2:p.Gln119Arg SP substitution exon 1 VAR_033349 Q3ZCQ2:p.Arg186Trp SP substitution exon 1 VAR_033353 Q96M86:p.Arg1358Cys SP substitution exon 1 VAR_033354 Q96M86:p.Lys1896Asn SP substitution exon 1 VAR_033355 Q96M86:p.Phe2041Leu SP substitution exon 1 VAR_033356 Q0VDD7:p.Gly267Arg SP substitution exon 1 VAR_033357 Q0VDD7:p.Gln500Arg SP substitution exon 1 VAR_033358 A4D1P6:p.Pro257Leu SP substitution exon 1 VAR_033359 Q6NSJ0:p.Asn4Ile SP substitution exon 1 VAR_033360 Q6NSJ0:p.Asp53Glu SP substitution exon 1 VAR_033361 Q6NSJ0:p.Arg199Ser SP substitution exon 1 VAR_033362 Q6NSJ0:p.Phe385Tyr SP substitution exon 1 VAR_033363 Q68DE3:p.Pro222Ala SP substitution exon 1 VAR_033364 Q68DE3:p.Ala1966Val SP substitution exon 1 VAR_033365 Q6P4Q7:p.Gly126Arg SP substitution exon 1 VAR_033366 Q8IUX8:p.Glu66Lys SP substitution exon 1 VAR_033367 Q8IUX8:p.Arg164Cys SP substitution exon 1 VAR_033370 Q8NCE2:p.Arg336Gln SP substitution exon 1 VAR_033371 Q8NCE2:p.Tyr462Cys SP substitution exon 1 VAR_033372 Q96J77:p.Phe118Leu SP substitution exon 1 VAR_033373 Q2M296:p.Leu45Val SP substitution exon 1 VAR_033376 Q68J44:p.Ser137Arg SP substitution exon 1 VAR_033449 Q6H3X3:p.Thr70Arg SP substitution exon 1 VAR_033450 Q9Y3L3:p.Pro511Leu SP substitution exon 1 VAR_033451 Q9Y3L3:p.Ser656Phe SP substitution exon 1 VAR_033452 O60890:p.Met693Ile SP substitution exon 1 VAR_033453 P54619:p.Thr89Ser SP substitution exon 1 VAR_033454 P54619:p.Lys329Asn SP substitution exon 1 VAR_033455 Q9UH17:p.Ser109Ala SP substitution exon 1 VAR_033456 Q2M3G0:p.Gln460His SP substitution exon 1 VAR_033457 Q9H222:p.Thr517Ser SP substitution exon 1 VAR_033458 P16219:p.Arg383His SP substitution exon 1 VAR_033460 Q9Y615:p.Ala161Pro SP substitution exon 1 VAR_033461 P20309:p.Val65Ile SP substitution exon 1 VAR_033462 P18089:p.Val376Ile SP substitution exon 1 VAR_033463 P18089:p.Val379Ile SP substitution exon 1 VAR_033464 O15218:p.Cys349Arg SP substitution exon 1 VAR_033465 Q99500:p.Arg243Gln SP substitution exon 1 VAR_033466 Q9H228:p.Leu318Gln SP substitution exon 1 VAR_033467 Q9HC97:p.Val76Met SP substitution exon 1 VAR_033468 O15529:p.Cys45Arg SP substitution exon 1 VAR_033469 O15529:p.Val227Leu SP substitution exon 1 VAR_033470 O15529:p.Val256Ala SP substitution exon 1 VAR_033471 O95800:p.Ala116Thr SP substitution exon 1 VAR_033472 O95800:p.Cys160Gly SP substitution exon 1 VAR_033473 O95800:p.Leu433Val SP substitution exon 1 VAR_033474 Q96P69:p.Ala330Thr SP substitution exon 1 VAR_033475 Q96P69:p.Arg342His SP substitution exon 1 VAR_033476 P35367:p.Gly270Glu SP substitution exon 1 VAR_033477 Q9H3N8:p.Ala138Val SP substitution exon 1 VAR_033478 Q9H3N8:p.His206Arg SP substitution exon 1 VAR_033479 Q9HBX8:p.Ala516Ser SP substitution exon 1 VAR_033480 O43613:p.Arg279Gln SP substitution exon 1 VAR_033481 O00398:p.Asn3His SP substitution exon 1 VAR_033482 Q13258:p.Arg7Cys SP substitution exon 1 VAR_033483 Q13258:p.Glu301Ala SP substitution exon 1 VAR_033484 P35346:p.Trp105Arg SP substitution exon 1 VAR_033485 P35346:p.Leu251Ser SP substitution exon 1 VAR_033486 P35346:p.Arg339Lys SP substitution exon 1 VAR_033487 P35609:p.Met604Val SP substitution exon 1 VAR_033489 Q9NRE1:p.Lys43Glu SP substitution exon 1 VAR_033490 Q9NRE1:p.Ile260Met SP substitution exon 1 VAR_033491 Q6HA08:p.Gln222Arg SP substitution exon 1 VAR_033492 Q16819:p.Arg476Gly SP substitution exon 1 VAR_033494 Q9NY33:p.Arg76His SP substitution exon 1 VAR_033495 Q9NY33:p.Gln145His SP substitution exon 1 VAR_033496 P02533:p.Val133Ala SP substitution exon 1 VAR_033497 Q16352:p.Asp149His SP substitution exon 1 VAR_033498 Q8IY63:p.Pro847Leu SP substitution exon 1 VAR_033499 Q01432:p.Arg185Trp SP substitution exon 1 VAR_033500 Q9NU02:p.Pro74Thr SP substitution exon 1 VAR_033501 Q9NU02:p.Gly412Glu SP substitution exon 1 VAR_033503 Q6P6B7:p.Ala128Gly SP substitution exon 1 VAR_033504 Q9BXX3:p.Thr611Ala SP substitution exon 1 VAR_033505 Q9BXX3:p.Lys917Asn SP substitution exon 1 VAR_033507 Q8NAG6:p.Leu94Gln SP substitution exon 1 VAR_033508 Q8NAG6:p.Leu184Trp SP substitution exon 1 VAR_033509 Q8NAG6:p.Thr311Pro SP substitution exon 1 VAR_033512 Q9Y574:p.Val17Leu SP substitution exon 1 VAR_033513 P28039:p.Ala266Gly SP substitution exon 1 VAR_033515 Q9UHR4:p.Ser460Thr SP substitution exon 1 VAR_033516 O95415:p.Thr123Ala SP substitution exon 1 VAR_033517 O14617:p.Gly541Arg SP substitution exon 1 VAR_033518 O14617:p.Ile1072Val SP substitution exon 1 VAR_033519 Q96PS8:p.Arg15Gln SP substitution exon 1 VAR_033520 P78540:p.Gly240Arg SP substitution exon 1 VAR_033521 Q92888:p.Pro375Leu SP substitution exon 1 VAR_033522 Q9UKW4:p.Thr298Ser SP substitution exon 1 VAR_033523 Q9UKW4:p.Gln618His SP substitution exon 1 VAR_033525 Q9H2C2:p.Gly101Glu SP substitution exon 1 VAR_033526 Q13835:p.Arg116His SP substitution exon 1 VAR_033527 Q13835:p.Cys161Tyr SP substitution exon 1 VAR_033528 Q13835:p.Ile196Val SP substitution exon 1 VAR_033529 O00192:p.Pro220Leu SP substitution exon 1 VAR_033530 O00192:p.Arg909Trp SP substitution exon 1 VAR_033531 O00192:p.Arg909Gln SP substitution exon 1 VAR_033532 O00192:p.Arg912Trp SP substitution exon 1 VAR_033533 P20933:p.Thr149Ser SP substitution exon 1 VAR_033534 P24539:p.Thr152Met SP substitution exon 1 VAR_033535 Q9BYV9:p.Ala418Thr SP substitution exon 1 VAR_033536 Q9Y2C3:p.Arg144His SP substitution exon 1 VAR_033537 Q9BYC5:p.Thr267Lys SP substitution exon 1 VAR_033538 O43286:p.Tyr371Asp SP substitution exon 1 VAR_033539 Q4VC05:p.Asn120Thr SP substitution exon 1 VAR_033542 Q9H694:p.Ser943Pro SP substitution exon 1 VAR_033543 Q6ZN30:p.Thr782Ala SP substitution exon 1 VAR_033544 Q8NBF1:p.Phe157Leu SP substitution exon 1 VAR_033545 Q96N20:p.Val84Ala SP substitution exon 1 VAR_033546 P36508:p.Thr48Met SP substitution exon 1 VAR_033547 P36508:p.Arg272Cys SP substitution exon 1 VAR_033549 Q15935:p.Leu20Trp SP substitution exon 1 VAR_033550 Q15935:p.Pro179Ser SP substitution exon 1 VAR_033551 Q15935:p.Gly460Arg SP substitution exon 1 VAR_033552 Q03923:p.Lys60Thr SP substitution exon 1 VAR_033553 Q03923:p.Gly184Arg SP substitution exon 1 VAR_033554 Q03923:p.Phe270Ser SP substitution exon 1 VAR_033555 P52737:p.Tyr107Cys SP substitution exon 1 VAR_033557 Q9UK13:p.Val165Met SP substitution exon 1 VAR_033558 Q9UK13:p.Phe179Ile SP substitution exon 1 VAR_033559 Q9UK13:p.Cys256Arg SP substitution exon 1 VAR_033560 Q9UK10:p.Gln50Arg SP substitution exon 1 VAR_033561 Q9UK10:p.Thr679Ser SP substitution exon 1 VAR_033562 Q14587:p.Thr175Met SP substitution exon 1 VAR_033563 Q9HCX3:p.Lys367Glu SP substitution exon 1 VAR_033564 Q8N895:p.Ala739Gly SP substitution exon 1 VAR_033565 Q6IV72:p.Asp166Val SP substitution exon 1 VAR_033566 Q9NWS9:p.Asn192His SP substitution exon 1 VAR_033567 Q9NWS9:p.Pro300Ser SP substitution exon 1 VAR_033568 Q8N9F8:p.Asp166Ala SP substitution exon 1 VAR_033569 Q8WV37:p.Pro177Ser SP substitution exon 1 VAR_033570 Q5JVG2:p.Gly502Asp SP substitution exon 1 VAR_033571 Q96MN9:p.Ala72Val SP substitution exon 1 VAR_033572 Q96MN9:p.Pro106Leu SP substitution exon 1 VAR_033573 Q96MN9:p.Pro249Ser SP substitution exon 1 VAR_033574 Q8TBZ5:p.Leu28Pro SP substitution exon 1 VAR_033575 Q8NDQ6:p.Asp53Val SP substitution exon 1 VAR_033576 Q9BR84:p.Thr251Asn SP substitution exon 1 VAR_033577 Q9BSK1:p.Arg357Ser SP substitution exon 1 VAR_033578 Q96NG8:p.Arg69Thr SP substitution exon 1 VAR_033579 Q8IVC4:p.Pro142Ser SP substitution exon 1 VAR_033580 Q8IVC4:p.Thr301Ala SP substitution exon 1 VAR_033581 Q96LX8:p.Thr30Ser SP substitution exon 1 VAR_033582 Q8N9Z0:p.Arg216Pro SP substitution exon 1 VAR_033583 Q49AA0:p.Val113Leu SP substitution exon 1 VAR_033584 Q9UJL9:p.Cys115Tyr SP substitution exon 1 VAR_033585 Q5T619:p.Asn111Lys SP substitution exon 1 VAR_033586 Q8IYX0:p.Glu69Gly SP substitution exon 1 VAR_033587 Q8IYX0:p.His120Arg SP substitution exon 1 VAR_033588 Q8IYX0:p.Tyr212His SP substitution exon 1 VAR_033589 Q8IYX0:p.Cys223Ser SP substitution exon 1 VAR_033590 Q9BU19:p.Pro230Arg SP substitution exon 1 VAR_033591 Q9H0M5:p.Leu321Val SP substitution exon 1 VAR_033592 Q9NV72:p.Leu4Pro SP substitution exon 1 VAR_033593 Q9NV72:p.Thr116Ile SP substitution exon 1 VAR_033594 Q9NV72:p.Arg455Cys SP substitution exon 1 VAR_033595 Q6ZN79:p.Lys142Gln SP substitution exon 1 VAR_033596 Q96C28:p.Pro96His SP substitution exon 1 VAR_033597 Q63HK3:p.Leu253Phe SP substitution exon 1 VAR_033598 Q63HK3:p.Glu615Asp SP substitution exon 1 VAR_033599 Q96PE6:p.Leu69Met SP substitution exon 1 VAR_033608 P06729:p.His339Asn SP substitution exon 1 VAR_033611 Q9UQ52:p.Phe150Ser SP substitution exon 1 VAR_033613 P54296:p.Glu81Lys SP substitution exon 1 VAR_033614 P54296:p.Thr182Met SP substitution exon 1 VAR_033615 P54296:p.Val321Leu SP substitution exon 1 VAR_033616 P54296:p.Val363Ile SP substitution exon 1 VAR_033617 P54296:p.Ser601Tyr SP substitution exon 1 VAR_033618 P54296:p.Val701Ile SP substitution exon 1 VAR_033620 Q9UQ74:p.Val349Asp SP substitution exon 1 VAR_033621 Q9Y336:p.Lys131Gln SP substitution exon 1 VAR_033622 Q9Y336:p.Val349Ala SP substitution exon 1 VAR_033623 Q86YD3:p.Trp25Cys SP substitution exon 1 VAR_033624 Q9NP99:p.Phe214Leu SP substitution exon 1 VAR_033625 Q9NZC2:p.His157Tyr SP substitution exon 1 VAR_033626 Q9NZC2:p.Leu211Pro SP substitution exon 1 VAR_033627 Q9BX59:p.Gly151Arg SP substitution exon 1 VAR_033630 Q9Y3E2:p.Gly98Ala SP substitution exon 1 VAR_033631 Q8NFQ6:p.Val302Leu SP substitution exon 1 VAR_033632 Q8NFQ5:p.Thr16Met SP substitution exon 1 VAR_033633 Q8NFQ5:p.Pro149Thr SP substitution exon 1 VAR_033634 Q8NFQ5:p.Ser347Gly SP substitution exon 1 VAR_033635 Q9H8M2:p.Ala266Thr SP substitution exon 1 VAR_033636 Q9H8M2:p.Ala389Thr SP substitution exon 1 VAR_033637 Q5XKL5:p.Lys136Arg SP substitution exon 1 VAR_033638 Q9BSF8:p.Thr145Ala SP substitution exon 1 VAR_033639 Q9H7B2:p.Ala41Gly SP substitution exon 1 VAR_033640 Q9H7B2:p.Gly60Ser SP substitution exon 1 VAR_033641 Q13895:p.Glu103Lys SP substitution exon 1 VAR_033642 Q9Y6E2:p.Asp44Ala SP substitution exon 1 VAR_033643 P09871:p.Arg119His SP substitution exon 1 VAR_033644 P09871:p.Val327Leu SP substitution exon 1 VAR_033645 Q9UNI1:p.Gln10His SP substitution exon 1 VAR_033646 Q9UNI1:p.Arg44Trp SP substitution exon 1 VAR_033647 Q9UNI1:p.Met59Val SP substitution exon 1 VAR_033648 Q9UNI1:p.Gln243Arg SP substitution exon 1 VAR_033649 P00748:p.Ala340Gly SP substitution exon 1 VAR_033650 Q7Z410:p.Arg73Trp SP substitution exon 1 VAR_033651 Q04756:p.Val225Met SP substitution exon 1 VAR_033652 Q04756:p.Phe231Leu SP substitution exon 1 VAR_033653 P00747:p.Arg134Lys SP substitution exon 1 VAR_033654 Q8NEQ6:p.Leu112Phe SP substitution exon 1 VAR_033655 Q8IVY1:p.Ser12Leu SP substitution exon 1 VAR_033656 Q8N2C7:p.Arg131Trp SP substitution exon 1 VAR_033657 Q580R0:p.Pro203Leu SP substitution exon 1 VAR_033658 Q9BQ75:p.Val166Ile SP substitution exon 1 VAR_033659 Q9Y2M2:p.Pro29Leu SP substitution exon 1 VAR_033660 Q6ZRS4:p.Ala32Asp SP substitution exon 1 VAR_033661 Q6ZRS4:p.Ala490Val SP substitution exon 1 VAR_033662 Q6ZRS4:p.Cys809Tyr SP substitution exon 1 VAR_033663 Q6ZRS4:p.His887Tyr SP substitution exon 1 VAR_033664 Q8IYE1:p.Ser547Thr SP substitution exon 1 VAR_033665 Q6P2H3:p.Ala542Thr SP substitution exon 1 VAR_033666 Q96GE4:p.Met165Ile SP substitution exon 1 VAR_033667 Q8IWA6:p.Ile46Val SP substitution exon 1 VAR_033668 Q8IWA6:p.Thr115Ala SP substitution exon 1 VAR_033669 Q8IWA6:p.Val393Ile SP substitution exon 1 VAR_033670 Q9Y3X0:p.Glu215Asp SP substitution exon 1 VAR_033671 Q9Y3X0:p.Ala456Val SP substitution exon 1 VAR_033672 Q9Y5K6:p.Asn581Lys SP substitution exon 1 VAR_033673 Q8N292:p.Ala83Thr SP substitution exon 1 VAR_033674 Q9BXW7:p.Arg369Ser SP substitution exon 1 VAR_033675 Q6P5S2:p.Cys308Gly SP substitution exon 1 VAR_033676 Q5VWP3:p.Arg6His SP substitution exon 1 VAR_033677 Q8N884:p.Pro261His SP substitution exon 1 VAR_033678 Q6IEG0:p.Pro45Leu SP substitution exon 1 VAR_033679 Q8IYR0:p.Arg154Lys SP substitution exon 1 VAR_033680 Q8IYR0:p.Gly170Ala SP substitution exon 1 VAR_033681 Q5VVB8:p.Asn60Ile SP substitution exon 1 VAR_033683 Q96NL8:p.Pro19Ala SP substitution exon 1 VAR_033684 Q6P047:p.Leu15Phe SP substitution exon 1 VAR_033685 Q6TFL3:p.Asn495Ile SP substitution exon 1 VAR_033686 Q9H2I8:p.Ser153Phe SP substitution exon 1 VAR_033687 Q8N655:p.Asn49Ser SP substitution exon 1 VAR_033688 Q8N655:p.Leu314Pro SP substitution exon 1 VAR_033689 Q8N655:p.Pro401Ala SP substitution exon 1 VAR_033690 Q8N655:p.Ile535Leu SP substitution exon 1 VAR_033691 Q96SZ5:p.Pro266Ser SP substitution exon 1 VAR_033692 Q9H943:p.Gly388Ala SP substitution exon 1 VAR_033693 Q9H943:p.Val607Ile SP substitution exon 1 VAR_033694 Q5T1B1:p.Glu144Gly SP substitution exon 1 VAR_033695 Q9NP86:p.Thr65Arg SP substitution exon 1 VAR_033696 Q96D15:p.Arg250Trp SP substitution exon 1 VAR_033697 Q6NXP0:p.Glu66Gly SP substitution exon 1 VAR_033698 O95180:p.Glu1974Gly SP substitution exon 1 VAR_033699 P55283:p.Lys625Arg SP substitution exon 1 VAR_033700 Q86SJ6:p.Ile535Thr SP substitution exon 1 VAR_033703 Q9Y5E6:p.Glu207Lys SP substitution exon 1 VAR_033704 Q9Y5E4:p.Ile156Thr SP substitution exon 1 VAR_033705 Q9Y5E3:p.Leu232Phe SP substitution exon 1 VAR_033706 Q9Y5E3:p.His636Gln SP substitution exon 1 VAR_033707 Q9Y5E3:p.Tyr747His SP substitution exon 1 VAR_033708 Q9Y5E2:p.Glu120Lys SP substitution exon 1 VAR_033709 Q9Y5E2:p.Glu187Lys SP substitution exon 1 VAR_033710 Q9Y5F1:p.Thr420Ile SP substitution exon 1 VAR_033711 Q9Y5H2:p.Phe104Leu SP substitution exon 1 VAR_033712 P23280:p.Gln37Leu SP substitution exon 1 VAR_033713 Q9UMQ6:p.Val266Met SP substitution exon 1 VAR_033714 Q9UMQ6:p.Val441Ala SP substitution exon 1 VAR_033715 Q9UMQ6:p.Ile521Val SP substitution exon 1 VAR_033716 Q9UMQ6:p.Ser544Arg SP substitution exon 1 VAR_033717 P40123:p.Thr311Ala SP substitution exon 1 VAR_033718 P40123:p.Tyr316Cys SP substitution exon 1 VAR_033721 Q8IZ69:p.Ser602Arg SP substitution exon 1 VAR_033722 Q6ZSC3:p.Ile259Val SP substitution exon 1 VAR_033723 O60812:p.Val258Asp SP substitution exon 1 VAR_033724 Q9Y388:p.Arg287His SP substitution exon 1 VAR_033725 P15088:p.Thr171Met SP substitution exon 1 VAR_033727 Q9UKA8:p.Thr236Asn SP substitution exon 1 VAR_033728 O43866:p.Asp117Glu SP substitution exon 1 VAR_033729 P21854:p.Pro234Leu SP substitution exon 1 VAR_033731 Q15782:p.Val184Ile SP substitution exon 1 VAR_033732 Q6IMI6:p.Tyr148Cys SP substitution exon 1 VAR_033733 Q6IMI6:p.Gly179Arg SP substitution exon 1 VAR_033734 Q6IMI6:p.Met194Thr SP substitution exon 1 VAR_033735 Q9GZX3:p.Asn369Asp SP substitution exon 1 VAR_033736 Q96RP7:p.Ala467Val SP substitution exon 1 VAR_033737 O43529:p.Val20Leu SP substitution exon 1 VAR_033738 Q9NRB3:p.Pro94Leu SP substitution exon 1 VAR_033739 Q5T4H9:p.Arg73Pro SP substitution exon 1 VAR_033740 Q8N8R7:p.Thr180Pro SP substitution exon 1 VAR_033742 Q96LU7:p.Ser88Leu SP substitution exon 1 VAR_033743 Q8N7L0:p.Arg134Cys SP substitution exon 1 VAR_033744 Q9NWQ9:p.Leu16Val SP substitution exon 1 VAR_033745 Q96IL0:p.Asn88Ser SP substitution exon 1 VAR_033746 P09543:p.Gln207Arg SP substitution exon 1 VAR_033747 Q6FI81:p.Ala34Glu SP substitution exon 1 VAR_033748 Q6FI81:p.Gln52Glu SP substitution exon 1 VAR_033749 Q8N511:p.Val158Ile SP substitution exon 1 VAR_033750 Q8N511:p.Leu166Val SP substitution exon 1 VAR_033751 Q8N1N2:p.Val38Ala SP substitution exon 1 VAR_033752 Q8N1N2:p.Thr189Pro SP substitution exon 1 VAR_033754 Q8IVT2:p.Ser156Gly SP substitution exon 1 VAR_033755 Q8IVT2:p.Lys232Arg SP substitution exon 1 VAR_033756 Q8IVT2:p.Glu653Gly SP substitution exon 1 VAR_033757 Q9NUR3:p.Leu33Met SP substitution exon 1 VAR_033758 Q9BQP7:p.Ser15Cys SP substitution exon 1 VAR_033759 Q9H1P6:p.Arg26His SP substitution exon 1 VAR_033760 Q9H1P6:p.Ile99Val SP substitution exon 1 VAR_033761 Q5JX71:p.Leu95Phe SP substitution exon 1 VAR_033762 Q5JX69:p.Glu129Ala SP substitution exon 1 VAR_033763 Q96KR6:p.Pro126Ser SP substitution exon 1 VAR_033765 Q9NWM3:p.Arg316Gln SP substitution exon 1 VAR_033766 O96002:p.Ser36Ala SP substitution exon 1 VAR_033767 P59894:p.Val83Met SP substitution exon 1 VAR_033768 P51800:p.Arg45His SP substitution exon 1 VAR_033769 P51800:p.Ala287Val SP substitution exon 1 VAR_033770 P51801:p.Phe4Leu SP substitution exon 1 VAR_033771 P51801:p.Val104Ile SP substitution exon 1 VAR_033772 P51801:p.Ala214Gly SP substitution exon 1 VAR_033773 P51801:p.Ile419Val SP substitution exon 1 VAR_033774 P56750:p.Ala82Thr SP substitution exon 1 VAR_033775 P56856:p.Met149Leu SP substitution exon 1 VAR_033776 O14967:p.Val290Ile SP substitution exon 1 VAR_033777 P26441:p.Asn49Ser SP substitution exon 1 VAR_033778 P02452:p.Arg1141Gln SP substitution exon 1 VAR_033779 P02452:p.Val1177Ile SP substitution exon 1 VAR_033780 P02452:p.Lys1430Asn SP substitution exon 1 VAR_033781 P02452:p.Thr1431Pro SP substitution exon 1 VAR_033782 P02458:p.Glu142Asp SP substitution exon 1 VAR_033783 P02458:p.Thr638Ile SP substitution exon 1 VAR_033784 P02458:p.Ala1051Thr SP substitution exon 1 VAR_033785 P02458:p.Gly1405Ser SP substitution exon 1 VAR_033786 Q02388:p.Pro2429Leu SP substitution exon 1 VAR_033787 P39059:p.Arg163His SP substitution exon 1 VAR_033788 P39059:p.Met204Val SP substitution exon 1 VAR_033789 P39059:p.Thr391Met SP substitution exon 1 VAR_033790 P39059:p.Ala442Thr SP substitution exon 1 VAR_033791 P39059:p.Gly446Arg SP substitution exon 1 VAR_033792 P39059:p.Glu506Asp SP substitution exon 1 VAR_033793 P39059:p.Pro531Arg SP substitution exon 1 VAR_033794 P39059:p.Lys989Arg SP substitution exon 1 VAR_033795 P39059:p.Lys1001Arg SP substitution exon 1 VAR_033796 P39059:p.Val1332Ile SP substitution exon 1 VAR_033798 P10643:p.Ser389Thr SP substitution exon 1 VAR_033799 P10643:p.Thr587Pro SP substitution exon 1 VAR_033800 P07357:p.Asp458Asn SP substitution exon 1 VAR_033801 P07357:p.Pro575Leu SP substitution exon 1 VAR_033802 P02748:p.Thr279Ser SP substitution exon 1 VAR_033803 P53621:p.Val1040Gly SP substitution exon 1 VAR_033804 Q6IA86:p.Ile541Thr SP substitution exon 1 VAR_033805 Q6IA86:p.Thr543Pro SP substitution exon 1 VAR_033806 Q6IA86:p.Thr815Pro SP substitution exon 1 VAR_033807 Q8TEQ6:p.Arg682Gln SP substitution exon 1 VAR_033808 Q13610:p.Leu288Phe SP substitution exon 1 VAR_033809 Q9UNX4:p.Pro234Ala SP substitution exon 1 VAR_033810 Q7Z5U6:p.His338Pro SP substitution exon 1 VAR_033811 Q8N136:p.Gly259Ser SP substitution exon 1 VAR_033812 Q8N136:p.Leu317Phe SP substitution exon 1 VAR_033813 Q9Y2Z9:p.Asp339Val SP substitution exon 1 VAR_033814 Q9Y2Z9:p.Thr395Met SP substitution exon 1 VAR_033815 Q96KJ9:p.Arg161His SP substitution exon 1 VAR_033816 Q9NRP2:p.Thr11Ser SP substitution exon 1 VAR_033817 P04798:p.Met66Val SP substitution exon 1 VAR_033818 P04798:p.Phe470Val SP substitution exon 1 VAR_033819 P20813:p.Arg29Pro SP substitution exon 1 VAR_033820 Q96SQ9:p.Pro466Leu SP substitution exon 1 VAR_033821 Q6ZWL3:p.Gln259Lys SP substitution exon 1 VAR_033822 Q9UBL6:p.Arg397Gln SP substitution exon 1 VAR_033823 Q9H8M1:p.Leu48Phe SP substitution exon 1 VAR_033824 P53673:p.Val36Met SP substitution exon 1 VAR_033825 P01133:p.His151Tyr SP substitution exon 1 VAR_033826 P01133:p.Leu292His SP substitution exon 1 VAR_033832 Q9UQP3:p.Asp289Asn SP substitution exon 1 VAR_033833 Q9UQP3:p.Thr499Met SP substitution exon 1 VAR_033834 Q9UQP3:p.Trp807Arg SP substitution exon 1 VAR_033835 Q9UQP3:p.Thr941Met SP substitution exon 1 VAR_033836 P08631:p.Pro502Gln SP substitution exon 1 VAR_033837 O15146:p.Val829Leu SP substitution exon 1 VAR_033838 P43405:p.Arg45His SP substitution exon 1 VAR_033839 Q9H8E8:p.Pro600Arg SP substitution exon 1 VAR_033840 Q56NI9:p.Ala80Val SP substitution exon 1 VAR_033841 Q9H114:p.Thr59Ala SP substitution exon 1 VAR_033842 Q9H114:p.Tyr62Phe SP substitution exon 1 VAR_033843 Q9H114:p.Arg66Lys SP substitution exon 1 VAR_033844 P56545:p.Glu47Asp SP substitution exon 1 VAR_033845 Q9UBT7:p.Thr424Ser SP substitution exon 1 VAR_033847 Q9UJW0:p.Tyr263Cys SP substitution exon 1 VAR_033848 Q13316:p.Lys463Arg SP substitution exon 1 VAR_033850 Q14241:p.Val324Ile SP substitution exon 1 VAR_033851 Q14241:p.Ala516Val SP substitution exon 1 VAR_033852 P57679:p.Ala114Val SP substitution exon 1 VAR_033853 P57679:p.Thr372Met SP substitution exon 1 VAR_033854 Q96G04:p.Ser123Cys SP substitution exon 1 VAR_033855 O43559:p.Pro221Leu SP substitution exon 1 VAR_033856 Q96CU9:p.Val145Ile SP substitution exon 1 VAR_033857 Q9NVP1:p.Lys647Arg SP substitution exon 1 VAR_033858 Q9Y6V7:p.Arg222His SP substitution exon 1 VAR_033859 Q9Y6V7:p.Ser296Ala SP substitution exon 1 VAR_033860 Q8TDD1:p.Pro821Leu SP substitution exon 1 VAR_033861 Q6P158:p.Ser433Gly SP substitution exon 1 VAR_033862 P15924:p.Ile305Phe SP substitution exon 1 VAR_033863 Q92817:p.Gln433Arg SP substitution exon 1 VAR_033864 Q96PD7:p.Arg317Gly SP substitution exon 1 VAR_033865 Q96PD7:p.Met361Ile SP substitution exon 1 VAR_033866 Q14129:p.Ala117Val SP substitution exon 1 VAR_033868 O75828:p.Cys4Tyr SP substitution exon 1 VAR_033869 O75828:p.Leu84Val SP substitution exon 1 VAR_033870 O75828:p.Val93Ile SP substitution exon 1 VAR_033871 O75828:p.Pro131Ser SP substitution exon 1 VAR_033872 O75828:p.Met235Leu SP substitution exon 1 VAR_033873 O75828:p.Val244Met SP substitution exon 1 VAR_033874 P56178:p.Ser234Arg SP substitution exon 1 VAR_033875 Q8IYA7:p.Arg40His SP substitution exon 1 VAR_033876 Q9UI46:p.Ala60Val SP substitution exon 1 VAR_033877 Q9UI46:p.Gln326His SP substitution exon 1 VAR_033878 Q9UI46:p.Val335Ile SP substitution exon 1 VAR_033879 Q9UI46:p.Val487Gly SP substitution exon 1 VAR_033880 Q9GZS0:p.Ala558Thr SP substitution exon 1 VAR_033881 Q8NHS0:p.Met153Leu SP substitution exon 1 VAR_033882 Q8N7S2:p.Val4Gly SP substitution exon 1 VAR_033883 Q8N7S2:p.His51Arg SP substitution exon 1 VAR_033884 P49917:p.Thr9Ile SP substitution exon 1 VAR_033885 Q9UBC3:p.Arg54Pro SP substitution exon 1 VAR_033886 Q9H7D0:p.Gln250Arg SP substitution exon 1 VAR_033888 Q8NF50:p.Pro97Thr SP substitution exon 1 VAR_033889 Q8NF50:p.Glu237Lys SP substitution exon 1 VAR_033890 Q8NF50:p.Asn413Ser SP substitution exon 1 VAR_033891 Q8NF50:p.Ala597Val SP substitution exon 1 VAR_033892 Q8NF50:p.Arg1008Trp SP substitution exon 1 VAR_033894 Q9H4A9:p.His468Asp SP substitution exon 1 VAR_033895 O94777:p.Thr76Ser SP substitution exon 1 VAR_033896 Q14181:p.Gly583Arg SP substitution exon 1 VAR_033897 Q14181:p.Ser588Asn SP substitution exon 1 VAR_033898 Q13474:p.Val68Leu SP substitution exon 1 VAR_033899 Q9UNI6:p.Ala51Glu SP substitution exon 1 VAR_033900 Q9NR20:p.Ala61Thr SP substitution exon 1 VAR_033901 Q9Y616:p.Gly269Ser SP substitution exon 1 VAR_033902 P22612:p.His268Asp SP substitution exon 1 VAR_033903 Q5S007:p.Ala419Val SP substitution exon 1 VAR_033904 Q5S007:p.Pro755Leu SP substitution exon 1 VAR_033906 P51956:p.His23Leu SP substitution exon 1 VAR_033908 Q7Z2Y5:p.Val358Met SP substitution exon 1 VAR_033909 Q7Z2Y5:p.Ala993Glu SP substitution exon 1 VAR_033910 P57059:p.Arg430Trp SP substitution exon 1 VAR_033913 Q13011:p.Gly217Arg SP substitution exon 1 VAR_033914 P20800:p.Phe131Leu SP substitution exon 1 VAR_033915 O00418:p.His23Arg SP substitution exon 1 VAR_033916 O00418:p.Pro75Ala SP substitution exon 1 VAR_033917 Q9NZN4:p.Gly57Ser SP substitution exon 1 VAR_033918 Q9UJA9:p.Arg39Pro SP substitution exon 1 VAR_033920 Q01113:p.Tyr288Cys SP substitution exon 1 VAR_033921 Q93063:p.Met42Val SP substitution exon 1 VAR_033922 Q8NFB2:p.Met179Val SP substitution exon 1 VAR_033923 Q8NFB2:p.Cys243Ser SP substitution exon 1 VAR_033924 Q9HA72:p.Val194Met SP substitution exon 1 VAR_033925 Q9H5I5:p.Val2463Ile SP substitution exon 1 VAR_033926 O75072:p.Gly125Ser SP substitution exon 1 VAR_033927 O75072:p.Arg203Gln SP substitution exon 1 VAR_033928 P02771:p.Lys187Gln SP substitution exon 1 VAR_033929 Q9BXU8:p.Gln120His SP substitution exon 1 VAR_033930 P02679:p.Tyr140His SP substitution exon 1 VAR_033931 P20930:p.Gly3436Ala SP substitution exon 1 VAR_033932 Q9NZ56:p.Arg1468His SP substitution exon 1 VAR_033933 Q5SZK8:p.Val770Met SP substitution exon 1 VAR_033934 Q5SZK8:p.Leu868Val SP substitution exon 1 VAR_033935 Q5SZK8:p.Met1039Lys SP substitution exon 1 VAR_033936 Q5SZK8:p.Phe1070Ser SP substitution exon 1 VAR_033937 Q5SZK8:p.Arg1840Trp SP substitution exon 1 VAR_033938 Q14331:p.Lys66Glu SP substitution exon 1 VAR_033939 Q9NQT6:p.His428Leu SP substitution exon 1 VAR_033940 Q6P050:p.Val109Leu SP substitution exon 1 VAR_033941 O75084:p.Gly196Glu SP substitution exon 1 VAR_033942 O75084:p.Ala487Val SP substitution exon 1 VAR_033943 P06744:p.Arg308His SP substitution exon 1 VAR_033944 Q86XJ1:p.Leu461Ser SP substitution exon 1 VAR_033945 Q86XJ1:p.Pro500Thr SP substitution exon 1 VAR_033946 Q10472:p.Tyr414Asp SP substitution exon 1 VAR_033947 Q9NY28:p.Glu234Lys SP substitution exon 1 VAR_033948 Q96FL9:p.Gln469Lys SP substitution exon 1 VAR_033949 P63211:p.Glu50Lys SP substitution exon 1 VAR_033950 P32455:p.Ile78Val SP substitution exon 1 VAR_033951 P32455:p.Glu166Asp SP substitution exon 1 VAR_033952 Q96PP9:p.Met542Ile SP substitution exon 1 VAR_033953 Q96PP9:p.Met545Ile SP substitution exon 1 VAR_033954 Q96PP9:p.Met545Leu SP substitution exon 1 VAR_033955 Q96PP9:p.Glu546Lys SP substitution exon 1 VAR_033956 Q96PP8:p.Thr35Met SP substitution exon 1 VAR_033958 P06396:p.Arg668Leu SP substitution exon 1 VAR_033959 O75496:p.Asn15His SP substitution exon 1 VAR_033960 O75496:p.Leu48Phe SP substitution exon 1 VAR_033961 O75496:p.Arg54Trp SP substitution exon 1 VAR_033962 Q02643:p.Ala57Thr SP substitution exon 1 VAR_033963 Q02643:p.Glu121Asp SP substitution exon 1 VAR_033964 Q02643:p.Val225Ile SP substitution exon 1 VAR_033965 Q02643:p.Met422Thr SP substitution exon 1 VAR_033966 P47871:p.Phe303Cys SP substitution exon 1 VAR_033967 O95838:p.His22Leu SP substitution exon 1 VAR_033968 O95838:p.Asp470Asn SP substitution exon 1 VAR_033969 O95838:p.Arg523His SP substitution exon 1 VAR_033970 P47872:p.Ala122Pro SP substitution exon 1 VAR_033971 Q8IWK6:p.Val1043Met SP substitution exon 1 VAR_033972 Q8IWK6:p.Val1166Gly SP substitution exon 1 VAR_033973 P09681:p.Asn146Ser SP substitution exon 1 VAR_033974 Q08379:p.Arg902Gly SP substitution exon 1 VAR_033975 Q13439:p.Gln1028Lys SP substitution exon 1 VAR_033977 P35052:p.Ser500Gly SP substitution exon 1 VAR_033978 P08263:p.Thr19Ile SP substitution exon 1 VAR_033979 Q03013:p.Ser2Pro SP substitution exon 1 VAR_033982 P0CG30:p.Met139Ile SP substitution exon 1 VAR_033983 Q9H4K7:p.Gly47Ser SP substitution exon 1 VAR_033984 Q9Y5Z7:p.Gly268Ala SP substitution exon 1 VAR_033985 Q96PQ7:p.Gly508Ser SP substitution exon 1 VAR_033986 Q8TBB5:p.Leu56Val SP substitution exon 1 VAR_033987 Q8TBB5:p.Leu155Val SP substitution exon 1 VAR_033989 Q7Z4Q2:p.Arg302Ser SP substitution exon 1 VAR_033990 P02790:p.Arg83Trp SP substitution exon 1 VAR_033991 P34913:p.Arg103Cys SP substitution exon 1 VAR_033992 Q9Y4H2:p.His789Tyr SP substitution exon 1 VAR_033993 Q9Y4H2:p.Val999Met SP substitution exon 1 VAR_033994 O76095:p.Leu16Phe SP substitution exon 1 VAR_033995 P46013:p.Arg832Trp SP substitution exon 1 VAR_033996 P46013:p.Leu1951Ile SP substitution exon 1 VAR_033998 Q969R5:p.Ile7Val SP substitution exon 1 VAR_033999 O60921:p.Ser126Gly SP substitution exon 1 VAR_034000 Q96N76:p.Arg188Trp SP substitution exon 1 VAR_034001 Q96N76:p.Ser311Thr SP substitution exon 1 VAR_034002 O43248:p.Ala222Val SP substitution exon 1 VAR_034004 P52790:p.Gly281Arg SP substitution exon 1 VAR_034005 O95256:p.Val350Ile SP substitution exon 1 VAR_034006 Q14642:p.Lys45Arg SP substitution exon 1 VAR_034007 O75822:p.Ala141Thr SP substitution exon 1 VAR_034008 O75153:p.Ala633Val SP substitution exon 1 VAR_034009 O43432:p.Pro496Ala SP substitution exon 1 VAR_034010 P05014:p.His49Pro SP substitution exon 1 VAR_034012 Q6UXB1:p.Thr66Ser SP substitution exon 1 VAR_034013 Q14005:p.Ser1027Thr SP substitution exon 1 VAR_034014 P08700:p.Arg3Cys SP substitution exon 1 VAR_034015 P08700:p.Asn60Ser SP substitution exon 1 VAR_034016 P05111:p.Gly227Arg SP substitution exon 1 VAR_034018 P78508:p.Arg271Cys SP substitution exon 1 VAR_034019 Q9UNX9:p.Arg289Cys SP substitution exon 1 VAR_034020 Q6UWN8:p.Pro36Thr SP substitution exon 1 VAR_034021 O95980:p.Val275Ile SP substitution exon 1 VAR_034022 P56199:p.Thr480Met SP substitution exon 1 VAR_034025 P38570:p.Arg950Trp SP substitution exon 1 VAR_034026 O75578:p.Arg668Trp SP substitution exon 1 VAR_034027 O75578:p.Ala702Thr SP substitution exon 1 VAR_034028 P26012:p.Ser552Phe SP substitution exon 1 VAR_034029 O43736:p.Ala72Val SP substitution exon 1 VAR_034030 O43736:p.Arg230Thr SP substitution exon 1 VAR_034031 Q14146:p.Val778Gly SP substitution exon 1 VAR_034032 Q5VV43:p.Gly919Ala SP substitution exon 1 VAR_034033 O43156:p.Arg450His SP substitution exon 1 VAR_034034 O43156:p.Arg1028Lys SP substitution exon 1 VAR_034035 O60268:p.Arg100His SP substitution exon 1 VAR_034036 O60308:p.Leu414Ile SP substitution exon 1 VAR_034037 O94874:p.Val137Phe SP substitution exon 1 VAR_034038 O94927:p.Pro213Leu SP substitution exon 1 VAR_034039 O94927:p.Ala277Asp SP substitution exon 1 VAR_034040 Q8N6R0:p.Met105Val SP substitution exon 1 VAR_034041 Q8N6R0:p.Met359Ile SP substitution exon 1 VAR_034042 Q9H0B3:p.Tyr648Phe SP substitution exon 1 VAR_034043 Q9H0B3:p.Pro823Arg SP substitution exon 1 VAR_034044 Q9UPX6:p.Val320Phe SP substitution exon 1 VAR_034046 P00568:p.Glu123Gln SP substitution exon 1 VAR_034047 Q8N752:p.Arg170Ser SP substitution exon 1 VAR_034048 Q9UJ90:p.Glu114Gln SP substitution exon 1 VAR_034049 Q14721:p.Pro825Ser SP substitution exon 1 VAR_034050 Q92953:p.Glu657Gly SP substitution exon 1 VAR_034051 Q03721:p.Asp318Tyr SP substitution exon 1 VAR_034052 Q9HB14:p.Gly389Ala SP substitution exon 1 VAR_034053 Q86Z14:p.Arg728Gln SP substitution exon 1 VAR_034054 Q86Z14:p.Ala747Val SP substitution exon 1 VAR_034055 Q86Z14:p.Gln1020Lys SP substitution exon 1 VAR_034056 Q93100:p.Glu820Val SP substitution exon 1 VAR_034057 Q9HA64:p.Ala57Val SP substitution exon 1 VAR_034060 Q13751:p.Ser438Thr SP substitution exon 1 VAR_034061 Q13751:p.Asn690Ser SP substitution exon 1 VAR_034062 Q13751:p.Met852Leu SP substitution exon 1 VAR_034063 Q13751:p.Arg988Trp SP substitution exon 1 VAR_034064 O75445:p.Asn3199Asp SP substitution exon 1 VAR_034065 Q9HA82:p.Arg119Gln SP substitution exon 1 VAR_034066 P05455:p.Pro48Ser SP substitution exon 1 VAR_034069 P53671:p.Gly35Ser SP substitution exon 1 VAR_034070 Q93052:p.Tyr346His SP substitution exon 1 VAR_034071 Q8IY33:p.Ala480Pro SP substitution exon 1 VAR_034072 Q8IY33:p.Pro519Leu SP substitution exon 1 VAR_034073 Q86VF7:p.Ala132Ser SP substitution exon 1 VAR_034074 Q86VF7:p.Gln186Glu SP substitution exon 1 VAR_034075 Q86VF7:p.Ala282Thr SP substitution exon 1 VAR_034076 Q86VF7:p.Ser490Leu SP substitution exon 1 VAR_034077 Q86VF7:p.Asn519Ile SP substitution exon 1 VAR_034078 Q86VF7:p.Ala674Val SP substitution exon 1 VAR_034079 Q86VF7:p.Arg884Cys SP substitution exon 1 VAR_034080 Q86VF7:p.Ala1112Val SP substitution exon 1 VAR_034081 Q15942:p.His223Leu SP substitution exon 1 VAR_034082 Q9Y5X9:p.Gly26Ser SP substitution exon 1 VAR_034083 Q0VAK6:p.Lys438Met SP substitution exon 1 VAR_034084 Q86X40:p.Arg168His SP substitution exon 1 VAR_034085 Q6UY01:p.Leu322Phe SP substitution exon 1 VAR_034087 Q96DD0:p.Ile121Leu SP substitution exon 1 VAR_034088 Q9H9A6:p.Gln53Pro SP substitution exon 1 VAR_034089 Q9H9A6:p.Ile500Val SP substitution exon 1 VAR_034090 Q8IYG6:p.Arg12Gln SP substitution exon 1 VAR_034091 Q14244:p.Val361Ile SP substitution exon 1 VAR_034092 Q14244:p.Arg526Pro SP substitution exon 1 VAR_034093 Q9NS73:p.Arg22Ser SP substitution exon 1 VAR_034094 Q9NQ76:p.Val330Ile SP substitution exon 1 VAR_034095 Q8TD10:p.Gln141Leu SP substitution exon 1 VAR_034097 Q7Z4F1:p.Met139Val SP substitution exon 1 VAR_034098 P01229:p.Met15Ile SP substitution exon 1 VAR_034099 Q9NU23:p.Lys46Glu SP substitution exon 1 VAR_034100 Q9BXT6:p.Met57Leu SP substitution exon 1 VAR_034101 Q9BXT6:p.Ser683Gly SP substitution exon 1 VAR_034102 P33908:p.Arg651Gly SP substitution exon 1 VAR_034103 Q96JY0:p.Ser41Ala SP substitution exon 1 VAR_034104 P23368:p.Pro114Leu SP substitution exon 1 VAR_034105 P46821:p.Pro1296Leu SP substitution exon 1 VAR_034106 Q9H081:p.Met21Val SP substitution exon 1 VAR_034107 P41218:p.Ser156Arg SP substitution exon 1 VAR_034109 Q8NHP6:p.Ser240Asn SP substitution exon 1 VAR_034110 P47944:p.Tyr30Cys SP substitution exon 1 VAR_034111 P47944:p.Trp31Arg SP substitution exon 1 VAR_034112 P47944:p.Gly48Asp SP substitution exon 1 VAR_034113 Q49AM1:p.Leu14Val SP substitution exon 1 VAR_034114 Q49AM1:p.Ala81Gly SP substitution exon 1 VAR_034116 P20591:p.Ala381Val SP substitution exon 1 VAR_034117 P20591:p.Gln611His SP substitution exon 1 VAR_034118 P60660:p.Thr103Pro SP substitution exon 1 VAR_034119 O95544:p.Asn262Lys SP substitution exon 1 VAR_034120 Q9Y3Q0:p.Val101Ile SP substitution exon 1 VAR_034121 Q9Y3Q0:p.Ile446Val SP substitution exon 1 VAR_034122 Q9UP52:p.Asp230Glu SP substitution exon 1 VAR_034123 Q9UP52:p.Ile238Met SP substitution exon 1 VAR_034125 P52961:p.Pro105Leu SP substitution exon 1 VAR_034126 P52961:p.Pro126Arg SP substitution exon 1 VAR_034127 Q8TE82:p.Asp291Asn SP substitution exon 1 VAR_034128 Q8TE82:p.Leu437Pro SP substitution exon 1 VAR_034129 P19878:p.Thr279Met SP substitution exon 1 VAR_034130 P19878:p.Val297Ala SP substitution exon 1 VAR_034131 Q8N0Z6:p.Gln14His SP substitution exon 1 VAR_034132 Q86TZ1:p.Ile87Ser SP substitution exon 1 VAR_034133 Q86TZ1:p.Ala98Thr SP substitution exon 1 VAR_034134 Q86TZ1:p.Thr376Ser SP substitution exon 1 VAR_034135 Q96AE7:p.Ile145Leu SP substitution exon 1 VAR_034136 Q15080:p.Arg153His SP substitution exon 1 VAR_034137 Q00604:p.Asp23Glu SP substitution exon 1 VAR_034138 Q5JPE7:p.Asp490Asn SP substitution exon 1 VAR_034139 Q5JPE7:p.Val493Met SP substitution exon 1 VAR_034140 Q5JPE7:p.Asn726Lys SP substitution exon 1 VAR_034141 Q9UND3:p.Arg93Cys SP substitution exon 1 VAR_034142 P48552:p.Tyr315Phe SP substitution exon 1 VAR_034143 Q9H857:p.Ser91Arg SP substitution exon 1 VAR_034144 Q8N6M0:p.Arg283Gln SP substitution exon 1 VAR_034145 Q9Y5Y5:p.Val254Leu SP substitution exon 1 VAR_034146 Q7Z412:p.Leu153Val SP substitution exon 1 VAR_034147 Q6P1K2:p.Gln75Arg SP substitution exon 1 VAR_034148 Q6P1K2:p.Met137Ile SP substitution exon 1 VAR_034149 O95299:p.Ala2Gly SP substitution exon 1 VAR_034150 O75306:p.Pro20Thr SP substitution exon 1 VAR_034151 O75306:p.Pro229Ala SP substitution exon 1 VAR_034152 O75306:p.Pro352Ala SP substitution exon 1 VAR_034153 Q8NC96:p.Asp224Asn SP substitution exon 1 VAR_034154 Q9NVZ3:p.Asp149Ala SP substitution exon 1 VAR_034155 P55769:p.Thr19Asn SP substitution exon 1 VAR_034156 O95436:p.Val45Ala SP substitution exon 1 VAR_034157 Q9BQG2:p.Lys129Glu SP substitution exon 1 VAR_034158 Q9BQG2:p.Ile235Val SP substitution exon 1 VAR_034159 Q9UKK9:p.Ile123Thr SP substitution exon 1 VAR_034160 Q86X67:p.Gly81Asp SP substitution exon 1 VAR_034161 Q9P1Q5:p.Val233Met SP substitution exon 1 VAR_034162 Q9Y585:p.Arg260Cys SP substitution exon 1 VAR_034163 Q9Y585:p.Trp293Cys SP substitution exon 1 VAR_034164 O60431:p.Pro139Arg SP substitution exon 1 VAR_034165 O60431:p.Phe211Leu SP substitution exon 1 VAR_034166 O60431:p.Tyr252Ser SP substitution exon 1 VAR_034167 O60431:p.Ile292Thr SP substitution exon 1 VAR_034168 Q8NGR3:p.Trp271Arg SP substitution exon 1 VAR_034169 Q8NH93:p.Val106Ala SP substitution exon 1 VAR_034170 Q8NH93:p.Asn121Asp SP substitution exon 1 VAR_034171 Q8NGT7:p.Ala223Thr SP substitution exon 1 VAR_034172 O95006:p.Thr170Ala SP substitution exon 1 VAR_034173 O95006:p.Tyr278His SP substitution exon 1 VAR_034174 Q8NGZ5:p.Pro24Ala SP substitution exon 1 VAR_034175 Q8NGZ5:p.Val120Leu SP substitution exon 1 VAR_034176 Q8NGZ5:p.Leu167Pro SP substitution exon 1 VAR_034177 Q8NGZ5:p.Arg236Gly SP substitution exon 1 VAR_034178 Q8NGZ4:p.Val258Met SP substitution exon 1 VAR_034179 Q96R28:p.Ala237Thr SP substitution exon 1 VAR_034180 Q7Z3T1:p.Cys169Ser SP substitution exon 1 VAR_034181 Q7Z3T1:p.Arg179Cys SP substitution exon 1 VAR_034182 Q7Z3T1:p.Val190Ile SP substitution exon 1 VAR_034183 Q7Z3T1:p.Glu196Asp SP substitution exon 1 VAR_034184 Q7Z3T1:p.Met272Lys SP substitution exon 1 VAR_034185 Q7Z3T1:p.Met275Thr SP substitution exon 1 VAR_034186 Q8NGV0:p.Val200Leu SP substitution exon 1 VAR_034187 Q8NH70:p.Leu188Ile SP substitution exon 1 VAR_034188 Q8NH70:p.Lys303Met SP substitution exon 1 VAR_034189 Q8NGF8:p.Cys63Tyr SP substitution exon 1 VAR_034190 Q8NGF8:p.Thr237Asn SP substitution exon 1 VAR_034191 Q8NH72:p.Ile133Thr SP substitution exon 1 VAR_034192 Q96R67:p.Val283Leu SP substitution exon 1 VAR_034193 Q8NGL9:p.Thr76Ala SP substitution exon 1 VAR_034194 Q8NGJ1:p.Glu11Gln SP substitution exon 1 VAR_034195 Q8NGJ1:p.Phe102Ser SP substitution exon 1 VAR_034196 Q8NGJ1:p.Asp111Ala SP substitution exon 1 VAR_034197 Q8NGI4:p.Phe197Leu SP substitution exon 1 VAR_034198 Q8NGC2:p.Val118Met SP substitution exon 1 VAR_034199 Q8NGC2:p.Gln234Arg SP substitution exon 1 VAR_034200 Q8NGD3:p.Arg319Lys SP substitution exon 1 VAR_034201 Q8NH43:p.Asp2Asn SP substitution exon 1 VAR_034202 Q8NH43:p.Met40Val SP substitution exon 1 VAR_034203 Q8NH43:p.Ser93Phe SP substitution exon 1 VAR_034204 Q8NH43:p.Met101Lys SP substitution exon 1 VAR_034205 Q8NH43:p.Gly109Ser SP substitution exon 1 VAR_034206 Q8NGD0:p.Thr116Ile SP substitution exon 1 VAR_034207 Q8NGD1:p.Val135Leu SP substitution exon 1 VAR_034208 Q8IXE1:p.Ser234Thr SP substitution exon 1 VAR_034209 Q8IXE1:p.Cys260Arg SP substitution exon 1 VAR_034210 Q8NH49:p.Pro165Leu SP substitution exon 1 VAR_034211 Q8NH49:p.Asp246Asn SP substitution exon 1 VAR_034212 Q8NH49:p.Pro282Ser SP substitution exon 1 VAR_034213 Q8NGJ0:p.Ile52Val SP substitution exon 1 VAR_034214 Q9NZP5:p.Met200Ile SP substitution exon 1 VAR_034215 Q8NH90:p.Gly4Val SP substitution exon 1 VAR_034216 Q8NH90:p.Met92Ile SP substitution exon 1 VAR_034217 Q8N127:p.Arg122Leu SP substitution exon 1 VAR_034218 Q8N127:p.Tyr310Cys SP substitution exon 1 VAR_034219 Q8NGF7:p.Leu80Ile SP substitution exon 1 VAR_034220 Q8NGL4:p.Arg236Leu SP substitution exon 1 VAR_034221 Q8NGL3:p.Ser249Ala SP substitution exon 1 VAR_034222 Q8NGL3:p.Leu290Pro SP substitution exon 1 VAR_034223 Q8NGK9:p.Ala156Thr SP substitution exon 1 VAR_034224 Q8NGL1:p.Val118Met SP substitution exon 1 VAR_034225 O95221:p.Ser294Asn SP substitution exon 1 VAR_034226 Q8NH18:p.Met136Ile SP substitution exon 1 VAR_034227 Q8NGL2:p.Ile46Phe SP substitution exon 1 VAR_034228 Q8NGL2:p.Ser287Pro SP substitution exon 1 VAR_034229 Q8NGL0:p.Met81Arg SP substitution exon 1 VAR_034230 Q8NGP3:p.Lys270Arg SP substitution exon 1 VAR_034231 Q96RB7:p.Ser171Asn SP substitution exon 1 VAR_034232 Q96RB7:p.Val280Leu SP substitution exon 1 VAR_034233 Q8NG75:p.Ser164Gly SP substitution exon 1 VAR_034236 Q8NH69:p.Ala163Pro SP substitution exon 1 VAR_034237 Q8NH69:p.Arg189Cys SP substitution exon 1 VAR_034238 O95007:p.Arg143Cys SP substitution exon 1 VAR_034239 Q96RD1:p.Cys130Tyr SP substitution exon 1 VAR_034240 Q96RD1:p.His165Asp SP substitution exon 1 VAR_034241 Q96RD1:p.Thr222Ile SP substitution exon 1 VAR_034242 Q96RD1:p.Val246Ile SP substitution exon 1 VAR_034243 Q9NZP2:p.Pro181Ala SP substitution exon 1 VAR_034244 Q9NZP2:p.Leu209Pro SP substitution exon 1 VAR_034245 Q9NZP0:p.Ala234Ser SP substitution exon 1 VAR_034246 Q8NGE1:p.Ile37Val SP substitution exon 1 VAR_034247 Q8NGZ6:p.Phe215Leu SP substitution exon 1 VAR_034248 Q8NGY2:p.Arg6Gln SP substitution exon 1 VAR_034249 Q8NGY2:p.Leu156Val SP substitution exon 1 VAR_034250 Q8NGY2:p.Ile159Phe SP substitution exon 1 VAR_034251 Q8N148:p.Ser237Phe SP substitution exon 1 VAR_034252 Q8N148:p.Arg269Lys SP substitution exon 1 VAR_034253 Q8N148:p.Val295Ala SP substitution exon 1 VAR_034254 O76100:p.Gln183Glu SP substitution exon 1 VAR_034255 Q8NGA0:p.Trp141Cys SP substitution exon 1 VAR_034256 Q8NGA0:p.Tyr252Cys SP substitution exon 1 VAR_034257 Q8NGM9:p.Leu55Arg SP substitution exon 1 VAR_034258 Q8NGM9:p.Ile92Val SP substitution exon 1 VAR_034259 Q8NGM9:p.Phe205Ser SP substitution exon 1 VAR_034260 Q15617:p.Ala247Val SP substitution exon 1 VAR_034261 Q8NGG4:p.Glu22Val SP substitution exon 1 VAR_034262 Q8N162:p.His120Tyr SP substitution exon 1 VAR_034263 Q8N162:p.Tyr169Cys SP substitution exon 1 VAR_034264 Q8N146:p.Pro137Ser SP substitution exon 1 VAR_034265 Q8N146:p.Arg295Lys SP substitution exon 1 VAR_034266 Q8N0Y5:p.Ile124Val SP substitution exon 1 VAR_034267 Q8N0Y5:p.Lys139Asn SP substitution exon 1 VAR_034268 Q8NGP2:p.Gly36Val SP substitution exon 1 VAR_034269 Q8NGP2:p.Met114Leu SP substitution exon 1 VAR_034270 Q8NGG5:p.Met21Val SP substitution exon 1 VAR_034271 Q8NGG5:p.Pro27Thr SP substitution exon 1 VAR_034272 Q8NGG5:p.Ala84Thr SP substitution exon 1 VAR_034273 Q8NH51:p.Val173Ile SP substitution exon 1 VAR_034274 Q8NH51:p.Ile275Met SP substitution exon 1 VAR_034275 Q8NH09:p.Met48Val SP substitution exon 1 VAR_034277 Q9H208:p.His207Arg SP substitution exon 1 VAR_034278 Q9H208:p.Ile240Thr SP substitution exon 1 VAR_034279 Q9H208:p.Lys258Thr SP substitution exon 1 VAR_034280 Q9H209:p.Arg221His SP substitution exon 1 VAR_034281 Q9H209:p.Leu246Phe SP substitution exon 1 VAR_034282 Q9H207:p.Lys41Met SP substitution exon 1 VAR_034283 Q8NGN3:p.Val195Glu SP substitution exon 1 VAR_034284 Q8NGN3:p.Arg235Gly SP substitution exon 1 VAR_034285 Q8NGN6:p.Thr136Ser SP substitution exon 1 VAR_034286 Q8NGN4:p.Ser136Thr SP substitution exon 1 VAR_034287 Q8NGN4:p.Gln172Arg SP substitution exon 1 VAR_034288 O60404:p.Leu14Ile SP substitution exon 1 VAR_034289 O60404:p.Arg54His SP substitution exon 1 VAR_034290 Q8NGA5:p.Asn100Lys SP substitution exon 1 VAR_034291 Q8NGA5:p.His144Arg SP substitution exon 1 VAR_034292 P30954:p.Met62Ile SP substitution exon 1 VAR_034293 P30954:p.Met112Ile SP substitution exon 1 VAR_034294 Q8NGE3:p.Pro88Leu SP substitution exon 1 VAR_034295 Q8NGE3:p.Val200Met SP substitution exon 1 VAR_034296 Q8NGI7:p.Gln123Arg SP substitution exon 1 VAR_034297 Q8NGY1:p.Asn294Thr SP substitution exon 1 VAR_034298 Q8NGC9:p.Thr301Ser SP substitution exon 1 VAR_034299 Q8NGC7:p.Ser7Tyr SP substitution exon 1 VAR_034300 Q8NGC7:p.Ile107Thr SP substitution exon 1 VAR_034301 Q8NGC7:p.Arg146His SP substitution exon 1 VAR_034302 Q8NGC7:p.Leu195Phe SP substitution exon 1 VAR_034303 Q8NGC7:p.Tyr236His SP substitution exon 1 VAR_034304 Q8NGC7:p.Cys259Arg SP substitution exon 1 VAR_034305 Q8NGX0:p.Phe117Leu SP substitution exon 1 VAR_034306 Q8NGS8:p.Phe32Leu SP substitution exon 1 VAR_034307 Q8NGS7:p.Ala19Asp SP substitution exon 1 VAR_034308 Q8NGT0:p.Thr91Ser SP substitution exon 1 VAR_034309 Q8NGS4:p.Phe18Ser SP substitution exon 1 VAR_034310 Q8NGS4:p.Phe94Ser SP substitution exon 1 VAR_034311 Q8NGS4:p.Thr254Met SP substitution exon 1 VAR_034312 Q8NG92:p.Tyr266Ser SP substitution exon 1 VAR_034313 Q8NGJ6:p.Arg267Gly SP substitution exon 1 VAR_034314 Q8NGJ6:p.Thr288Met SP substitution exon 1 VAR_034315 Q8NH64:p.Met81Thr SP substitution exon 1 VAR_034316 Q8NH64:p.Val196Ala SP substitution exon 1 VAR_034317 Q8TCB6:p.Ser10Asn SP substitution exon 1 VAR_034318 Q8NGK1:p.Tyr125Ser SP substitution exon 1 VAR_034319 Q8NGK0:p.Glu96Gln SP substitution exon 1 VAR_034320 Q9H343:p.Val164Leu SP substitution exon 1 VAR_034321 Q9H344:p.Arg122Cys SP substitution exon 1 VAR_034322 Q9H344:p.Thr134Ala SP substitution exon 1 VAR_034323 Q9H344:p.Arg151Pro SP substitution exon 1 VAR_034324 Q8NGJ5:p.Thr196Ile SP substitution exon 1 VAR_034325 Q8NGJ5:p.Ala207Val SP substitution exon 1 VAR_034326 Q8NH59:p.Thr146Ile SP substitution exon 1 VAR_034327 Q8NH59:p.Cys153Arg SP substitution exon 1 VAR_034328 Q8NH59:p.Arg178His SP substitution exon 1 VAR_034329 Q8NGJ8:p.Ile57Asn SP substitution exon 1 VAR_034330 Q8NGJ8:p.Gln60Glu SP substitution exon 1 VAR_034331 Q9H346:p.Arg154Cys SP substitution exon 1 VAR_034332 Q9H346:p.Asp213Glu SP substitution exon 1 VAR_034333 Q9H346:p.Tyr221Phe SP substitution exon 1 VAR_034334 Q9H346:p.Arg304Trp SP substitution exon 1 VAR_034335 Q8NGH9:p.Phe49Leu SP substitution exon 1 VAR_034336 Q8NGH9:p.Arg228His SP substitution exon 1 VAR_034337 Q8NGH9:p.Phe257Leu SP substitution exon 1 VAR_034342 Q8NGK6:p.Thr41Ile SP substitution exon 1 VAR_034343 Q8NH60:p.Thr77Ala SP substitution exon 1 VAR_034344 Q8NH60:p.Val128Ile SP substitution exon 1 VAR_034345 Q8NH60:p.Gln141Leu SP substitution exon 1 VAR_034346 Q8NH60:p.Val226Ile SP substitution exon 1 VAR_034347 Q8NGK3:p.Arg124Cys SP substitution exon 1 VAR_034348 Q8NGK3:p.Arg302Cys SP substitution exon 1 VAR_034349 Q8NGK5:p.Ser9Leu SP substitution exon 1 VAR_034350 Q8NGK5:p.Ser305Arg SP substitution exon 1 VAR_034351 Q8NH53:p.Phe247Ile SP substitution exon 1 VAR_034352 Q8NGI2:p.Thr106Ile SP substitution exon 1 VAR_034353 Q8NGI2:p.Asn218Ile SP substitution exon 1 VAR_034354 Q9NY56:p.Asn61Lys SP substitution exon 1 VAR_034356 Q9H607:p.Arg42Leu SP substitution exon 1 VAR_034357 Q9H607:p.Ala109Gly SP substitution exon 1 VAR_034358 P29803:p.Met280Leu SP substitution exon 1 VAR_034359 P29803:p.Arg376Gly SP substitution exon 1 VAR_034360 P12694:p.Pro39His SP substitution exon 1 VAR_034361 P12694:p.Thr151Met SP substitution exon 1 VAR_034362 Q6UWY5:p.Glu113Val SP substitution exon 1 VAR_034363 Q6UWY5:p.Ala259Thr SP substitution exon 1 VAR_034364 Q13438:p.Ser454Leu SP substitution exon 1 VAR_034365 P0C869:p.Arg391His SP substitution exon 1 VAR_034366 Q9NZ20:p.Arg378Gln SP substitution exon 1 VAR_034367 Q96QZ0:p.Gly95Arg SP substitution exon 1 VAR_034368 Q96QZ0:p.Thr208Ala SP substitution exon 1 VAR_034369 Q9HBI1:p.Pro52Arg SP substitution exon 1 VAR_034371 P55771:p.Ala240Pro SP substitution exon 1 VAR_034372 Q92831:p.Asn386Ser SP substitution exon 1 VAR_034374 Q08493:p.Arg344Gln SP substitution exon 1 VAR_034375 O00541:p.Thr264Ser SP substitution exon 1 VAR_034376 O43933:p.Ile696Met SP substitution exon 1 VAR_034377 P09619:p.Ile29Phe SP substitution exon 1 VAR_034378 P16234:p.Ser478Pro SP substitution exon 1 VAR_034379 P35916:p.Asn527Ser SP substitution exon 1 VAR_034381 P53609:p.Ile103Val SP substitution exon 1 VAR_034383 Q7Z3Z3:p.Pro375Ser SP substitution exon 1 VAR_034384 Q7Z3Z3:p.Cys412Arg SP substitution exon 1 VAR_034385 Q7Z3Z3:p.Val418Met SP substitution exon 1 VAR_034386 Q9NTG1:p.Ile1147Met SP substitution exon 1 VAR_034387 Q13393:p.Pro49Ala SP substitution exon 1 VAR_034388 O15162:p.His262Tyr SP substitution exon 1 VAR_034389 Q9Y6A1:p.Gln251Trp SP substitution exon 1 VAR_034390 Q9Y6A1:p.Gln251Arg SP substitution exon 1 VAR_034391 Q9Y6A1:p.Val327Ile SP substitution exon 1 VAR_034392 Q9Y6A1:p.Asp433Glu SP substitution exon 1 VAR_034394 P11117:p.Ser320Phe SP substitution exon 1 VAR_034395 P50336:p.Pro256Arg SP substitution exon 1 VAR_034396 O95521:p.Gln252Glu SP substitution exon 1 VAR_034397 O95521:p.Tyr302Cys SP substitution exon 1 VAR_034398 O95521:p.Tyr316Phe SP substitution exon 1 VAR_034399 O95521:p.Arg375Cys SP substitution exon 1 VAR_034400 O60811:p.Val67Gly SP substitution exon 1 VAR_034401 O60811:p.Ser68Trp SP substitution exon 1 VAR_034402 O60811:p.Thr72Arg SP substitution exon 1 VAR_034403 O60811:p.Ala128Thr SP substitution exon 1 VAR_034404 O60811:p.Thr141Met SP substitution exon 1 VAR_034405 O60811:p.Tyr225Cys SP substitution exon 1 VAR_034406 O60811:p.Thr233Asn SP substitution exon 1 VAR_034407 O60811:p.Thr301Ala SP substitution exon 1 VAR_034408 O60811:p.Cys302Tyr SP substitution exon 1 VAR_034409 O60811:p.Asn304Tyr SP substitution exon 1 VAR_034410 O60811:p.Glu308Gly SP substitution exon 1 VAR_034411 O60811:p.Leu310Met SP substitution exon 1 VAR_034412 O60811:p.Phe316Tyr SP substitution exon 1 VAR_034413 O60811:p.Cys375Arg SP substitution exon 1 VAR_034414 Q9NNZ6:p.Gln100Arg SP substitution exon 1 VAR_034415 P49720:p.Met34Leu SP substitution exon 1 VAR_034416 Q6NZI2:p.Glu193Gln SP substitution exon 1 VAR_034417 Q96NA2:p.Arg281Gln SP substitution exon 1 VAR_034418 Q6NUQ1:p.Phe668Ser SP substitution exon 1 VAR_034419 Q6NUQ1:p.Pro759Leu SP substitution exon 1 VAR_034420 Q9Y3V2:p.Val47Ala SP substitution exon 1 VAR_034422 O95810:p.Glu130Asp SP substitution exon 1 VAR_034424 Q8N0Z8:p.Arg103Gln SP substitution exon 1 VAR_034425 P06737:p.Arg425Pro SP substitution exon 1 VAR_034426 P06737:p.Val698Gly SP substitution exon 1 VAR_034427 P06737:p.Ile806Leu SP substitution exon 1 VAR_034428 P11216:p.Ala303Ser SP substitution exon 1 VAR_034429 P20742:p.Leu379Val SP substitution exon 1 VAR_034430 Q9Y620:p.Leu30Val SP substitution exon 1 VAR_034431 Q9UNY4:p.Lys213Arg SP substitution exon 1 VAR_034432 Q9NP72:p.Ala198Thr SP substitution exon 1 VAR_034433 O95755:p.Pro50Leu SP substitution exon 1 VAR_034434 Q96AX2:p.Ala188Pro SP substitution exon 1 VAR_034435 Q8WXH6:p.His45Leu SP substitution exon 1 VAR_034436 Q92878:p.Val315Leu SP substitution exon 1 VAR_034437 O60896:p.Gly26Asp SP substitution exon 1 VAR_034438 Q9H2L5:p.His10Tyr SP substitution exon 1 VAR_034439 Q9H2L5:p.Arg88Gly SP substitution exon 1 VAR_034440 Q6ZTQ3:p.Ala306Gly SP substitution exon 1 VAR_034441 Q07890:p.Leu672Ile SP substitution exon 1 VAR_034442 P06400:p.Glu746Gly SP substitution exon 1 VAR_034443 P28749:p.Ile1035Met SP substitution exon 1 VAR_034444 P04090:p.Met28Lys SP substitution exon 1 VAR_034445 P82980:p.Glu70Gln SP substitution exon 1 VAR_034446 P82980:p.Met115Leu SP substitution exon 1 VAR_034447 O75570:p.Leu324Val SP substitution exon 1 VAR_034448 P48382:p.Arg197Gln SP substitution exon 1 VAR_034449 P48382:p.Pro409Arg SP substitution exon 1 VAR_034450 P48382:p.Pro499Ser SP substitution exon 1 VAR_034451 O14924:p.Ile225Val SP substitution exon 1 VAR_034452 O14924:p.Met277Leu SP substitution exon 1 VAR_034453 O14921:p.Leu150Phe SP substitution exon 1 VAR_034454 Q8TEB9:p.Ala110Thr SP substitution exon 1 VAR_034455 Q02161:p.Trp16Cys SP substitution exon 1 VAR_034456 Q02161:p.Glu193Lys SP substitution exon 1 VAR_034457 Q02161:p.Thr201Arg SP substitution exon 1 VAR_034459 P46778:p.Phe15Ser SP substitution exon 1 VAR_034460 P46779:p.Arg66Leu SP substitution exon 1 VAR_034461 Q92901:p.Pro291Leu SP substitution exon 1 VAR_034462 Q8TCC3:p.Ala130Thr SP substitution exon 1 VAR_034463 Q9NZE8:p.Ala80Pro SP substitution exon 1 VAR_034464 Q9H9J2:p.Thr138Ile SP substitution exon 1 VAR_034465 Q9Y252:p.Asn48Ser SP substitution exon 1 VAR_034466 Q8IYW5:p.Lys387Arg SP substitution exon 1 VAR_034467 Q8IWV7:p.Lys596Met SP substitution exon 1 VAR_034468 Q8IWZ5:p.Val475Met SP substitution exon 1 VAR_034469 Q8IWZ5:p.Ala579Glu SP substitution exon 1 VAR_034470 Q86UK7:p.Ser453Tyr SP substitution exon 1 VAR_034471 Q86UK7:p.Cys725Ser SP substitution exon 1 VAR_034472 O95159:p.Arg218Gln SP substitution exon 1 VAR_034473 P60153:p.Ser204Pro SP substitution exon 1 VAR_034474 Q96MS0:p.Val423Met SP substitution exon 1 VAR_034475 Q96MS0:p.Gln1369Arg SP substitution exon 1 VAR_034476 Q9H9Y6:p.Ser295Leu SP substitution exon 1 VAR_034477 Q16518:p.Ala434Val SP substitution exon 1 VAR_034479 Q9Y399:p.Asp112Gly SP substitution exon 1 VAR_034480 Q9Y399:p.Met158Val SP substitution exon 1 VAR_034481 Q9UL01:p.Thr25Ile SP substitution exon 1 VAR_034482 Q15437:p.Pro433Leu SP substitution exon 1 VAR_034483 P48029:p.Thr164Ser SP substitution exon 1 VAR_034484 Q8WXD2:p.Met233Val SP substitution exon 1 VAR_034485 P51170:p.Glu197Lys SP substitution exon 1 VAR_034486 Q8NBX0:p.Gly418Arg SP substitution exon 1 VAR_034487 Q0VDG4:p.Val179Ala SP substitution exon 1 VAR_034488 O60524:p.Ser257Cys SP substitution exon 1 VAR_034489 Q02383:p.Gln43Lys SP substitution exon 1 VAR_034490 Q02383:p.Thr57Ala SP substitution exon 1 VAR_034491 Q02383:p.His279Tyr SP substitution exon 1 VAR_034492 Q8WV19:p.Ile109Val SP substitution exon 1 VAR_034493 Q8NBJ9:p.Thr631Met SP substitution exon 1 VAR_034494 Q8NBJ9:p.Val636Ile SP substitution exon 1 VAR_034495 Q9H173:p.Gln80Arg SP substitution exon 1 VAR_034496 P81133:p.Pro352Thr SP substitution exon 1 VAR_034497 P81133:p.Ala371Val SP substitution exon 1 VAR_034498 Q9H4F8:p.Val82Met SP substitution exon 1 VAR_034499 P61278:p.Ala11Val SP substitution exon 1 VAR_034500 P61278:p.Asn61Thr SP substitution exon 1 VAR_034501 Q9NY99:p.Ser168Tyr SP substitution exon 1 VAR_034502 Q9NY99:p.Ser200Leu SP substitution exon 1 VAR_034503 Q9NY99:p.Ile391Val SP substitution exon 1 VAR_034504 O43290:p.Ser463Ala SP substitution exon 1 VAR_034505 Q99469:p.Asn262Ser SP substitution exon 1 VAR_034506 Q01658:p.Glu171Asp SP substitution exon 1 VAR_034507 Q13596:p.Asp466Asn SP substitution exon 1 VAR_034508 Q92673:p.Gln1074Glu SP substitution exon 1 VAR_034509 Q92673:p.Val1967Ile SP substitution exon 1 VAR_034510 P23497:p.Glu699Gly SP substitution exon 1 VAR_034511 Q86U17:p.Thr406Ser SP substitution exon 1 VAR_034512 O75635:p.Arg266Gln SP substitution exon 1 VAR_034513 Q96P63:p.Lys227Glu SP substitution exon 1 VAR_034514 Q96P63:p.Asn289Thr SP substitution exon 1 VAR_034515 Q9NY87:p.Val59Leu SP substitution exon 1 VAR_034517 Q96PI1:p.Pro45Ser SP substitution exon 1 VAR_034518 P35325:p.Pro39Ser SP substitution exon 1 VAR_034519 O43610:p.Ala161Thr SP substitution exon 1 VAR_034520 P49675:p.Arg121Trp SP substitution exon 1 VAR_034521 P42224:p.Ile30Thr SP substitution exon 1 VAR_034522 P14410:p.Thr1802Ser SP substitution exon 1 VAR_034523 Q9HA77:p.Glu440Lys SP substitution exon 1 VAR_034524 Q9HA77:p.Gln555Pro SP substitution exon 1 VAR_034525 Q6PI48:p.Lys196Arg SP substitution exon 1 VAR_034526 Q9NSE4:p.Ile522Val SP substitution exon 1 VAR_034527 Q7L3T8:p.Asn235Ser SP substitution exon 1 VAR_034528 O00445:p.Arg111Gln SP substitution exon 1 VAR_034532 Q8IV01:p.Asn170His SP substitution exon 1 VAR_034533 P26639:p.Gly21Asp SP substitution exon 1 VAR_034534 Q9Y2Z4:p.Gly191Val SP substitution exon 1 VAR_034535 Q9NYW5:p.Arg3Gln SP substitution exon 1 VAR_034536 Q9NYW5:p.Phe7Ser SP substitution exon 1 VAR_034537 Q9NYW4:p.Pro113Leu SP substitution exon 1 VAR_034538 Q9NYW4:p.Tyr167Cys SP substitution exon 1 VAR_034539 Q9NYV7:p.Asn172Lys SP substitution exon 1 VAR_034540 Q71U36:p.Glu447Lys SP substitution exon 1 VAR_034541 Q13748:p.Val75Leu SP substitution exon 1 VAR_034542 Q9H4B7:p.Gln43His SP substitution exon 1 VAR_034543 Q9H4B7:p.Gln43Pro SP substitution exon 1 VAR_034544 Q8IYX1:p.Arg113Gln SP substitution exon 1 VAR_034545 O43435:p.Gly310Ser SP substitution exon 1 VAR_034546 Q9H3H9:p.Asp19Gly SP substitution exon 1 VAR_034547 Q9H3H9:p.Gly68Ala SP substitution exon 1 VAR_034548 Q969V4:p.Ile146Val SP substitution exon 1 VAR_034549 Q9UIF3:p.Arg46Cys SP substitution exon 1 VAR_034550 Q9BXF9:p.Glu410Asp SP substitution exon 1 VAR_034551 Q9H0W7:p.Thr170Met SP substitution exon 1 VAR_034552 Q8NA92:p.Arg70His SP substitution exon 1 VAR_034553 Q8NA92:p.Pro157Ser SP substitution exon 1 VAR_034554 Q9NYK1:p.Gln11Leu SP substitution exon 1 VAR_034555 Q9NR96:p.Arg863Gln SP substitution exon 1 VAR_034556 Q9NS93:p.Pro179Arg SP substitution exon 1 VAR_034558 Q12888:p.Asp841Gly SP substitution exon 1 VAR_034559 Q12888:p.Glu1137Lys SP substitution exon 1 VAR_034560 Q12888:p.Arg1442Gln SP substitution exon 1 VAR_034561 Q9BT76:p.Gln293Arg SP substitution exon 1 VAR_034562 P40337:p.Pro25Leu SP substitution exon 1 VAR_034564 Q8N2M4:p.Val215Ala SP substitution exon 1 VAR_034565 Q9BUB7:p.Asn228Lys SP substitution exon 1 VAR_034566 Q5JTV8:p.Gln293His SP substitution exon 1 VAR_034567 O60784:p.Met264Val SP substitution exon 1 VAR_034568 Q16890:p.Arg62Lys SP substitution exon 1 VAR_034569 P02787:p.Arg42Leu SP substitution exon 1 VAR_034570 P02787:p.Ala76Val SP substitution exon 1 VAR_034571 P02787:p.Gly562Val SP substitution exon 1 VAR_034572 Q99816:p.Met167Ile SP substitution exon 1 VAR_034573 O60635:p.Val87Met SP substitution exon 1 VAR_034574 Q9NNX1:p.Lys296Arg SP substitution exon 1 VAR_034575 O00294:p.Lys261Asn SP substitution exon 1 VAR_034576 P14679:p.Phe134Cys SP substitution exon 1 VAR_034577 Q9NZ09:p.Asn357Lys SP substitution exon 1 VAR_034578 Q9H347:p.Met546Thr SP substitution exon 1 VAR_034579 P07919:p.Glu51Gln SP substitution exon 1 VAR_034580 O95045:p.Met78Leu SP substitution exon 1 VAR_034581 P31930:p.Asp215His SP substitution exon 1 VAR_034582 P22695:p.Arg183Gln SP substitution exon 1 VAR_034584 Q7Z5L0:p.Thr77Ser SP substitution exon 1 VAR_034586 Q8IZN3:p.Thr334Met SP substitution exon 1 VAR_034587 O60844:p.Ser32Gly SP substitution exon 1 VAR_034588 O60844:p.Thr162Ser SP substitution exon 1 VAR_034589 Q5SVZ6:p.Val73Met SP substitution exon 1 VAR_034590 Q7L3V2:p.Arg116His SP substitution exon 1 VAR_034591 Q7L3V2:p.Asp123Tyr SP substitution exon 1 VAR_034592 Q8IY34:p.Ile349Phe SP substitution exon 1 VAR_034593 Q68CZ2:p.Gln600His SP substitution exon 1 VAR_034594 Q68CZ2:p.Gly679Ser SP substitution exon 1 VAR_034595 Q9UBK8:p.Ser202Leu SP substitution exon 1 VAR_034596 Q9UBK8:p.Ser284Thr SP substitution exon 1 VAR_034597 Q9UBK8:p.Lys377Arg SP substitution exon 1 VAR_034598 Q9UBK8:p.Arg442Cys SP substitution exon 1 VAR_034599 Q9UBK8:p.Pro477Arg SP substitution exon 1 VAR_034602 P12821:p.Met828Thr SP substitution exon 1 VAR_034603 P12259:p.Lys2185Arg SP substitution exon 1 VAR_034604 P24723:p.Val374Ile SP substitution exon 1 VAR_034605 Q9Y2U8:p.Asp260Tyr SP substitution exon 1 VAR_034606 Q7RTR2:p.Val567Met SP substitution exon 1 VAR_034607 Q86WI3:p.Ser210Leu SP substitution exon 1 VAR_034608 Q86WI3:p.Pro453Leu SP substitution exon 1 VAR_034609 Q86WI3:p.Cys500Arg SP substitution exon 1 VAR_034610 Q86WI3:p.Ser833Asn SP substitution exon 1 VAR_034611 Q86WI3:p.Gln1105Lys SP substitution exon 1 VAR_034614 Q86UT6:p.Pro63Ser SP substitution exon 1 VAR_034615 Q86UT6:p.Arg125Leu SP substitution exon 1 VAR_034618 Q5VST9:p.Gln502Arg SP substitution exon 1 VAR_034619 Q5VST9:p.Val1508Asp SP substitution exon 1 VAR_034620 Q5VST9:p.Ala3300Thr SP substitution exon 1 VAR_034621 Q5VST9:p.His4381Arg SP substitution exon 1 VAR_034622 Q5VST9:p.Cys4450Arg SP substitution exon 1 VAR_034623 Q8TBY9:p.Glu61Gly SP substitution exon 1 VAR_034624 Q8TBY9:p.Thr383Met SP substitution exon 1 VAR_034625 Q8TBY9:p.Leu445Phe SP substitution exon 1 VAR_034626 Q8NCR6:p.Pro233Gln SP substitution exon 1 VAR_034627 Q6ZW49:p.Met1013Val SP substitution exon 1 VAR_034628 Q9H4I9:p.Arg46Gly SP substitution exon 1 VAR_034629 Q9H1C7:p.Cys90Ser SP substitution exon 1 VAR_034631 Q7Z2Z1:p.Arg628Cys SP substitution exon 1 VAR_034632 Q8WTQ4:p.Arg152Gln SP substitution exon 1 VAR_034633 Q5VV67:p.Ser536Gly SP substitution exon 1 VAR_034634 Q5VV67:p.Pro834Arg SP substitution exon 1 VAR_034635 Q8IYF3:p.Lys130Arg SP substitution exon 1 VAR_034636 Q8IYF3:p.Glu451Lys SP substitution exon 1 VAR_034637 Q96Q06:p.Ala1124Thr SP substitution exon 1 VAR_034638 Q5T0W9:p.Asn410Ser SP substitution exon 1 VAR_034639 Q5T0W9:p.Ser435Arg SP substitution exon 1 VAR_034640 Q5T0W9:p.Lys640Thr SP substitution exon 1 VAR_034641 Q5T0W9:p.Thr907Asn SP substitution exon 1 VAR_034642 Q8N1B3:p.Cys183Ser SP substitution exon 1 VAR_034643 Q5TGL8:p.Gln184His SP substitution exon 1 VAR_034644 Q5TGL8:p.Pro189Gln SP substitution exon 1 VAR_034645 Q3ZCV2:p.Gly126Cys SP substitution exon 1 VAR_034647 Q96DL1:p.Val103Ala SP substitution exon 1 VAR_034648 Q9NUM3:p.Glu64Asp SP substitution exon 1 VAR_034651 Q3KPI0:p.Thr121Asn SP substitution exon 1 VAR_034652 Q3KPI0:p.Met198Val SP substitution exon 1 VAR_034653 Q8N2Y8:p.Thr73Ala SP substitution exon 1 VAR_034654 Q8N2Y8:p.Pro654Leu SP substitution exon 1 VAR_034655 Q9BUV0:p.Tyr147His SP substitution exon 1 VAR_034656 Q9BUV0:p.Glu239Gly SP substitution exon 1 VAR_034657 Q14CZ0:p.Asn221Ser SP substitution exon 1 VAR_034658 Q9ULF5:p.Thr87Ser SP substitution exon 1 VAR_034659 Q8TES7:p.Gly65Val SP substitution exon 1 VAR_034660 Q8TES7:p.Arg151Gly SP substitution exon 1 VAR_034661 Q8TES7:p.Pro371Ser SP substitution exon 1 VAR_034662 Q8TES7:p.Cys574Ser SP substitution exon 1 VAR_034663 Q5K131:p.Ser9Phe SP substitution exon 1 VAR_034664 Q8NA69:p.Asp256Gly SP substitution exon 1 VAR_034665 Q8NA69:p.Tyr396Asn SP substitution exon 1 VAR_034666 Q8NA69:p.Tyr434Asn SP substitution exon 1 VAR_034667 Q8NA69:p.Pro497Ser SP substitution exon 1 VAR_034668 Q8NA69:p.Leu500Pro SP substitution exon 1 VAR_034669 Q96NY8:p.Phe53Leu SP substitution exon 1 VAR_034670 Q5SZL2:p.Ser137Gly SP substitution exon 1 VAR_034671 Q5SZL2:p.Asp166Val SP substitution exon 1 VAR_034672 Q5SZL2:p.Pro251Thr SP substitution exon 1 VAR_034673 Q96S66:p.Ser368Arg SP substitution exon 1 VAR_034674 P56373:p.Ala383Val SP substitution exon 1 VAR_034675 P34741:p.Ala59Thr SP substitution exon 1 VAR_034676 P34741:p.Ser71Thr SP substitution exon 1 VAR_034677 P36888:p.Asp7Gly SP substitution exon 1 VAR_034678 P36888:p.Thr227Met SP substitution exon 1 VAR_034679 P46063:p.Val102Ile SP substitution exon 1 VAR_034680 P40199:p.Gly239Val SP substitution exon 1 VAR_034681 Q8N2F6:p.Pro190Ser SP substitution exon 1 VAR_034682 P53708:p.Val567Leu SP substitution exon 1 VAR_034683 Q8WWQ0:p.Val663Gly SP substitution exon 1 VAR_034684 Q8WWQ0:p.Thr874Ile SP substitution exon 1 VAR_034685 Q8WWQ0:p.Leu1093Pro SP substitution exon 1 VAR_034686 Q8WWQ0:p.Thr1135Pro SP substitution exon 1 VAR_034687 Q8WWQ0:p.Asn1445Thr SP substitution exon 1 VAR_034688 Q9Y3R5:p.Ser1021Trp SP substitution exon 1 VAR_034690 Q5JWR5:p.Arg596Gln SP substitution exon 1 VAR_034691 Q5JWR5:p.Gln1781Leu SP substitution exon 1 VAR_034692 Q14D04:p.Ser208Cys SP substitution exon 1 VAR_034693 Q14D04:p.Val263Gly SP substitution exon 1 VAR_034694 Q14D04:p.Ser271Cys SP substitution exon 1 VAR_034695 Q14D04:p.Met319Val SP substitution exon 1 VAR_034696 Q14D04:p.Leu329Val SP substitution exon 1 VAR_034697 Q14D04:p.Arg365Gln SP substitution exon 1 VAR_034698 Q14D04:p.Ser522Pro SP substitution exon 1 VAR_034699 O95476:p.Thr12Ala SP substitution exon 1 VAR_034700 O00476:p.Gly201Arg SP substitution exon 1 VAR_034701 O75581:p.Arg611Cys SP substitution exon 1 VAR_034702 O75581:p.Arg1401His SP substitution exon 1 VAR_034703 P56705:p.Glu216Gly SP substitution exon 1 VAR_034706 P02545:p.Arg60Gly SP substitution exon 1 VAR_034707 P02545:p.Ser143Phe SP substitution exon 1 VAR_034709 P02545:p.Ala529Val SP substitution exon 1 VAR_034710 P02545:p.Lys542Asn SP substitution exon 1 VAR_034711 O75844:p.Thr137Ala SP substitution exon 1 VAR_034712 P49454:p.Arg300Cys SP substitution exon 1 VAR_034713 P49454:p.His494Gln SP substitution exon 1 VAR_034714 P49454:p.Met701Val SP substitution exon 1 VAR_034715 P49454:p.Gln754Glu SP substitution exon 1 VAR_034716 P49454:p.Arg815His SP substitution exon 1 VAR_034717 P49454:p.Tyr1018Asp SP substitution exon 1 VAR_034718 P49454:p.Gly1033Arg SP substitution exon 1 VAR_034719 P49454:p.Thr1105Ile SP substitution exon 1 VAR_034720 P49454:p.Leu1412Ser SP substitution exon 1 VAR_034721 P49454:p.Ala1515Thr SP substitution exon 1 VAR_034722 P49454:p.Lys1539Arg SP substitution exon 1 VAR_034723 P49454:p.Glu2011Ala SP substitution exon 1 VAR_034724 O43493:p.Leu10Val SP substitution exon 1 VAR_034725 O43493:p.Ala86Gly SP substitution exon 1 VAR_034726 O43493:p.Gln91Leu SP substitution exon 1 VAR_034727 O43493:p.Lys103Gln SP substitution exon 1 VAR_034728 O43493:p.Gln105Pro SP substitution exon 1 VAR_034729 O43493:p.Arg259Trp SP substitution exon 1 VAR_034730 O43493:p.Glu322Gly SP substitution exon 1 VAR_034731 Q14CZ8:p.Met218Val SP substitution exon 1 VAR_034732 Q96AV8:p.Phe72Leu SP substitution exon 1 VAR_034733 Q96AV8:p.Met626Val SP substitution exon 1 VAR_034734 Q96AV8:p.His854Gln SP substitution exon 1 VAR_034735 A0AVK6:p.Ile674Val SP substitution exon 1 VAR_034736 Q9H898:p.Thr201Ala SP substitution exon 1 VAR_034737 Q8NEH6:p.Cys10Tyr SP substitution exon 1 VAR_034738 Q8NEH6:p.Gln55Pro SP substitution exon 1 VAR_034739 Q8NEH6:p.Ile216Thr SP substitution exon 1 VAR_034740 Q8NEH6:p.Tyr244His SP substitution exon 1 VAR_034742 Q8WWZ8:p.Ser237Pro SP substitution exon 1 VAR_034743 Q9BV29:p.Lys2Ile SP substitution exon 1 VAR_034746 Q9NRA2:p.Val296Ile SP substitution exon 1 VAR_034747 Q04446:p.Thr265Ser SP substitution exon 1 VAR_034748 Q04446:p.Ile334Val SP substitution exon 1 VAR_034749 Q04446:p.Thr507Ala SP substitution exon 1 VAR_034750 Q8N9T8:p.Thr5Ala SP substitution exon 1 VAR_034751 Q8N9T8:p.Gly144Arg SP substitution exon 1 VAR_034752 Q8N9T8:p.Glu185Ala SP substitution exon 1 VAR_034753 Q8N9T8:p.Glu272Lys SP substitution exon 1 VAR_034754 Q8N9T8:p.Ser315Leu SP substitution exon 1 VAR_034755 Q8N9T8:p.Arg342Trp SP substitution exon 1 VAR_034756 Q8N9T8:p.Glu355Gln SP substitution exon 1 VAR_034757 Q8N9T8:p.Leu451Pro SP substitution exon 1 VAR_034758 Q8N9T8:p.Ser709Pro SP substitution exon 1 VAR_034759 Q6P4F1:p.Leu59Phe SP substitution exon 1 VAR_034760 Q6P4F1:p.Tyr268His SP substitution exon 1 VAR_034761 Q6P4F1:p.Leu368Val SP substitution exon 1 VAR_034762 Q6P4F1:p.Arg371Pro SP substitution exon 1 VAR_034763 Q495W5:p.Ser51Ala SP substitution exon 1 VAR_034764 Q5VZL5:p.Val452Ile SP substitution exon 1 VAR_034765 Q92802:p.Tyr272His SP substitution exon 1 VAR_034766 Q9C093:p.Asn71His SP substitution exon 1 VAR_034767 Q9C093:p.Gly74Ser SP substitution exon 1 VAR_034768 Q9C093:p.Arg366Lys SP substitution exon 1 VAR_034769 Q9C093:p.Arg447Gln SP substitution exon 1 VAR_034770 Q9C093:p.Asp500Asn SP substitution exon 1 VAR_034771 Q9C093:p.Asn616Lys SP substitution exon 1 VAR_034772 Q9C093:p.Glu655Gly SP substitution exon 1 VAR_034773 Q9C093:p.Lys1482Asn SP substitution exon 1 VAR_034774 Q9UJN7:p.Lys51Arg SP substitution exon 1 VAR_034775 Q9UJN7:p.Gly59Cys SP substitution exon 1 VAR_034776 Q2TB90:p.Asp54Gly SP substitution exon 1 VAR_034777 Q2TB90:p.Thr124Ile SP substitution exon 1 VAR_034778 Q2TB90:p.Leu204Pro SP substitution exon 1 VAR_034779 Q2TB90:p.Trp721Arg SP substitution exon 1 VAR_034782 Q8TC05:p.Thr103Ile SP substitution exon 1 VAR_034783 Q8TC05:p.Val383Ile SP substitution exon 1 VAR_034791 Q6NUS8:p.Cys121Gly SP substitution exon 1 VAR_034792 Q5SRE5:p.Ala1419Val SP substitution exon 1 VAR_034793 Q5SRE5:p.Asn1587Lys SP substitution exon 1 VAR_034795 Q8IUR6:p.Thr483Ala SP substitution exon 1 VAR_034797 Q6ZMR5:p.Arg293Gln SP substitution exon 1 VAR_034798 Q86T26:p.Ile242Val SP substitution exon 1 VAR_034799 Q86T26:p.Thr348Ser SP substitution exon 1 VAR_034800 Q6ZWK6:p.Ala4Thr SP substitution exon 1 VAR_034801 Q99497:p.Glu163Lys SP substitution exon 1 VAR_034802 Q92889:p.Arg153Pro SP substitution exon 1 VAR_034803 Q16637:p.Asp30Asn SP substitution exon 1 VAR_034804 Q16637:p.Asp44Val SP substitution exon 1 VAR_034805 Q16637:p.Gly95Arg SP substitution exon 1 VAR_034806 Q16637:p.Ala111Gly SP substitution exon 1 VAR_034807 Q16637:p.Ile116Phe SP substitution exon 1 VAR_034808 Q16637:p.Gln136Glu SP substitution exon 1 VAR_034809 Q16637:p.Ser262Gly SP substitution exon 1 VAR_034810 Q8N3Z0:p.Arg224Gln SP substitution exon 1 VAR_034811 Q9NY27:p.Ser282Cys SP substitution exon 1 VAR_034812 Q5SZI1:p.Asn134Thr SP substitution exon 1 VAR_034813 Q659C4:p.Pro462Arg SP substitution exon 1 VAR_034814 Q659C4:p.Arg660His SP substitution exon 1 VAR_034815 Q96NZ9:p.Glu54Gly SP substitution exon 1 VAR_034816 Q96NZ9:p.Lys69Arg SP substitution exon 1 VAR_034817 Q96NZ9:p.Gly81Ser SP substitution exon 1 VAR_034818 Q96NZ9:p.His101Arg SP substitution exon 1 VAR_034819 Q8IV76:p.Gln213Glu SP substitution exon 1 VAR_034820 O75901:p.Ala285Thr SP substitution exon 1 VAR_034821 Q5BJF6:p.Thr710Ser SP substitution exon 1 VAR_034823 Q68CJ6:p.Arg23Pro SP substitution exon 1 VAR_034824 Q68CJ6:p.Ser180Gly SP substitution exon 1 VAR_034825 Q68CJ6:p.Gln328Arg SP substitution exon 1 VAR_034826 Q68CJ6:p.Ser474Asn SP substitution exon 1 VAR_034827 Q7Z353:p.Ala193Thr SP substitution exon 1 VAR_034828 Q7Z353:p.Phe397Ser SP substitution exon 1 VAR_034829 Q6ZR08:p.Val32Ala SP substitution exon 1 VAR_034830 Q6ZR08:p.Ser139Asn SP substitution exon 1 VAR_034831 Q6ZR08:p.Asp224Glu SP substitution exon 1 VAR_034832 Q6ZR08:p.Thr231Ala SP substitution exon 1 VAR_034833 Q8IWX8:p.Asn199His SP substitution exon 1 VAR_034834 Q9H6R7:p.Thr102Met SP substitution exon 1 VAR_034835 Q8NG50:p.His32Arg SP substitution exon 1 VAR_034836 Q8NG50:p.Cys127Trp SP substitution exon 1 VAR_034837 Q5SV97:p.Trp20Arg SP substitution exon 1 VAR_034838 Q5VWN6:p.Arg1075Pro SP substitution exon 1 VAR_034841 Q8TDR0:p.Asn228Ser SP substitution exon 1 VAR_034842 Q8TDR0:p.Arg239Trp SP substitution exon 1 VAR_034843 Q8TDR0:p.Met620Leu SP substitution exon 1 VAR_034844 Q8N490:p.Ala7Val SP substitution exon 1 VAR_034845 Q8N490:p.Ala9Val SP substitution exon 1 VAR_034846 Q9HCE3:p.Glu761Asp SP substitution exon 1 VAR_034847 Q8TER0:p.Leu1228Pro SP substitution exon 1 VAR_034848 Q8TER0:p.Arg1289Gln SP substitution exon 1 VAR_034849 Q8TER0:p.His1299Arg SP substitution exon 1 VAR_034850 Q8TER0:p.Ala1362Ser SP substitution exon 1 VAR_034851 Q5T1M5:p.Ala106Thr SP substitution exon 1 VAR_034852 Q5T1M5:p.His413Gln SP substitution exon 1 VAR_034853 Q5T1M5:p.Leu434Phe SP substitution exon 1 VAR_034854 Q5JSL3:p.Ile813Phe SP substitution exon 1 VAR_034855 Q96HP4:p.Arg59Gln SP substitution exon 1 VAR_034856 Q96HP4:p.Ser64Ala SP substitution exon 1 VAR_034857 Q96HP4:p.Arg82Cys SP substitution exon 1 VAR_034858 Q8IZ41:p.Arg262Cys SP substitution exon 1 VAR_034859 Q8N3C0:p.Leu146Phe SP substitution exon 1 VAR_034860 Q8N3C0:p.Val1050Ile SP substitution exon 1 VAR_034861 Q8N3C0:p.Cys1800Trp SP substitution exon 1 VAR_034862 Q8N3C0:p.Val1930Met SP substitution exon 1 VAR_034863 Q8N3C0:p.Ser1995Cys SP substitution exon 1 VAR_034864 Q8N3C0:p.Tyr2176Cys SP substitution exon 1 VAR_034865 P10071:p.Gly1336Glu SP substitution exon 1 VAR_034866 P00746:p.Val213Gly SP substitution exon 1 VAR_034867 P00746:p.Cys214Arg SP substitution exon 1 VAR_034868 P00746:p.Ile248Met SP substitution exon 1 VAR_034869 P15814:p.Pro142Leu SP substitution exon 1 VAR_034870 P16871:p.Pro132Ser SP substitution exon 1 VAR_034871 P25963:p.Ser32Ile SP substitution exon 1 VAR_034872 P00973:p.Gly162Ser SP substitution exon 1 VAR_034873 Q8NEP7:p.Ser171Arg SP substitution exon 1 VAR_034874 Q8NEP7:p.Asn288Ser SP substitution exon 1 VAR_034875 Q8NE22:p.Ser76Thr SP substitution exon 1 VAR_034876 Q8NE22:p.Lys209Glu SP substitution exon 1 VAR_034877 Q8N4C9:p.Thr152Ser SP substitution exon 1 VAR_034878 Q9C056:p.Val209Ala SP substitution exon 1 VAR_034879 Q5T2R2:p.Asp308Glu SP substitution exon 1 VAR_034880 Q96JN2:p.Asp218His SP substitution exon 1 VAR_034881 Q96JN2:p.Gln1049Glu SP substitution exon 1 VAR_034882 Q15788:p.Pro1272Ser SP substitution exon 1 VAR_034883 Q9UJJ7:p.Glu124Gln SP substitution exon 1 VAR_034884 Q9UJJ7:p.Leu247Pro SP substitution exon 1 VAR_034885 Q6P087:p.Asp34His SP substitution exon 1 VAR_034886 Q6P087:p.Ala181Pro SP substitution exon 1 VAR_034887 Q96CM3:p.Gln44Arg SP substitution exon 1 VAR_034888 Q96CM3:p.Asp58Gly SP substitution exon 1 VAR_034889 Q96CM3:p.Glu155Asp SP substitution exon 1 VAR_034890 Q96CM3:p.Ala209Val SP substitution exon 1 VAR_034891 P08069:p.Arg138Gln SP substitution exon 1 VAR_034892 P08069:p.Lys145Asn SP substitution exon 1 VAR_034893 P08069:p.Arg437His SP substitution exon 1 VAR_034894 P08069:p.Arg511Gln SP substitution exon 1 VAR_034895 P08069:p.Arg739Gln SP substitution exon 1 VAR_034896 P08069:p.His808Arg SP substitution exon 1 VAR_034897 P08069:p.Ala828Thr SP substitution exon 1 VAR_034898 P46531:p.Gln300Arg SP substitution exon 1 VAR_034899 O14745:p.Leu110Val SP substitution exon 1 VAR_034901 Q9ULC3:p.Lys40Arg SP substitution exon 1 VAR_034902 Q9ULC3:p.Cys85Arg SP substitution exon 1 VAR_034903 Q9ULC3:p.Ser101Ala SP substitution exon 1 VAR_034904 P37198:p.Gln391Pro SP substitution exon 1 VAR_034905 Q9Y2V3:p.Arg192Gln SP substitution exon 1 VAR_034906 P43699:p.Val205Phe SP substitution exon 1 VAR_034907 P05156:p.Gly243Asp SP substitution exon 1 VAR_034908 P05156:p.Thr300Ala SP substitution exon 1 VAR_034909 Q2M2Z5:p.His139Gln SP substitution exon 1 VAR_034910 Q2M2Z5:p.Met236Thr SP substitution exon 1 VAR_034911 Q8WWC4:p.Leu290Ile SP substitution exon 1 VAR_034912 Q68CZ6:p.Ile586Thr SP substitution exon 1 VAR_034913 Q6V702:p.Thr138Met SP substitution exon 1 VAR_034914 Q6V702:p.Val220Ile SP substitution exon 1 VAR_034915 Q17RF5:p.Pro30Leu SP substitution exon 1 VAR_034916 Q17RF5:p.Arg109His SP substitution exon 1 VAR_034917 Q9NXF7:p.Asn45Ser SP substitution exon 1 VAR_034918 Q9NXF7:p.Thr129Ile SP substitution exon 1 VAR_034919 Q6ZW61:p.Ile39Thr SP substitution exon 1 VAR_034921 Q6ZW61:p.Glu126Asp SP substitution exon 1 VAR_034922 Q6ZW61:p.Pro159Leu SP substitution exon 1 VAR_034923 Q6ZW61:p.Ile170Val SP substitution exon 1 VAR_034924 Q6ZW61:p.Lys195Arg SP substitution exon 1 VAR_034925 Q6ZW61:p.Asn238Lys SP substitution exon 1 VAR_034926 Q6ZW61:p.Ala289Pro SP substitution exon 1 VAR_034927 Q6ZW61:p.Arg386Gln SP substitution exon 1 VAR_034928 Q6ZW61:p.Ser429Thr SP substitution exon 1 VAR_034929 Q6ZW61:p.Asn461His SP substitution exon 1 VAR_034930 Q6ZW61:p.Asp467Asn SP substitution exon 1 VAR_034931 Q6ZW61:p.Arg484Lys SP substitution exon 1 VAR_034932 Q6ZW61:p.Gly540Val SP substitution exon 1 VAR_034933 Q6ZW61:p.Ala615Val SP substitution exon 1 VAR_034934 Q969F2:p.Thr257Lys SP substitution exon 1 VAR_034936 Q2M3T9:p.Ala346Ser SP substitution exon 1 VAR_034937 Q9NXS2:p.Pro214Leu SP substitution exon 1 VAR_034938 Q15648:p.Ser1240Gly SP substitution exon 1 VAR_034939 Q6IMN6:p.Met519Val SP substitution exon 1 VAR_034941 Q6PIW4:p.Val137Met SP substitution exon 1 VAR_034942 Q6PIW4:p.His216Tyr SP substitution exon 1 VAR_034943 Q7Z5B4:p.Pro57His SP substitution exon 1 VAR_034944 Q8NBS3:p.Asn150Ser SP substitution exon 1 VAR_034945 Q8NBS3:p.Ala160Thr SP substitution exon 1 VAR_034946 Q8NBS3:p.Ser213Pro SP substitution exon 1 VAR_034947 Q8NBS3:p.Arg488Lys SP substitution exon 1 VAR_034948 Q8NBS3:p.Arg804His SP substitution exon 1 VAR_034949 Q8NBS3:p.Val824Met SP substitution exon 1 VAR_034950 Q8NBS3:p.Thr833Met SP substitution exon 1 VAR_034951 Q8NBS3:p.Leu843Pro SP substitution exon 1 VAR_034952 Q8NBS3:p.Met848Ile SP substitution exon 1 VAR_034953 Q8NBS3:p.Met856Val SP substitution exon 1 VAR_034954 Q8NBS3:p.Arg869His SP substitution exon 1 VAR_034955 P07320:p.Pro24Ser SP substitution exon 1 VAR_034956 P07320:p.Glu107Ala SP substitution exon 1 VAR_034957 Q96M96:p.Met298Arg SP substitution exon 1 VAR_034958 Q96E52:p.Asn67Lys SP substitution exon 1 VAR_034959 Q96E52:p.Pro117Leu SP substitution exon 1 VAR_034960 Q96E52:p.Phe211Cys SP substitution exon 1 VAR_034961 Q96E52:p.Ile329Leu SP substitution exon 1 VAR_034962 Q6PI26:p.Ser140Ile SP substitution exon 1 VAR_034963 Q6PI26:p.Ser489Asn SP substitution exon 1 VAR_034964 Q5VZP5:p.Glu265Asp SP substitution exon 1 VAR_034965 Q5VZP5:p.Arg466His SP substitution exon 1 VAR_034966 Q5VZP5:p.Ala505Thr SP substitution exon 1 VAR_034967 Q5VZP5:p.Lys855Gln SP substitution exon 1 VAR_034968 Q5VZP5:p.Thr1124Asn SP substitution exon 1 VAR_034969 Q6ZNG2:p.Met171Val SP substitution exon 1 VAR_034970 Q9UMZ3:p.Thr1040Ile SP substitution exon 1 VAR_034971 Q9UMZ3:p.Phe1098Leu SP substitution exon 1 VAR_034972 Q9UMZ3:p.Ala1120Pro SP substitution exon 1 VAR_034973 Q9UMZ3:p.Asn1244Asp SP substitution exon 1 VAR_034974 Q9UMZ3:p.Ile1734Thr SP substitution exon 1 VAR_034975 Q9UMZ3:p.Arg2121Lys SP substitution exon 1 VAR_034976 Q96LX7:p.Pro353Leu SP substitution exon 1 VAR_034978 A1A5D9:p.Gln273Arg SP substitution exon 1 VAR_034979 Q92835:p.Val685Glu SP substitution exon 1 VAR_034980 O15357:p.Leu632Ile SP substitution exon 1 VAR_034981 O15357:p.Val721Met SP substitution exon 1 VAR_034982 O15357:p.Asn982Ser SP substitution exon 1 VAR_034985 Q15672:p.Ala186Thr SP substitution exon 1 VAR_034986 Q15672:p.Ser188Leu SP substitution exon 1 VAR_034987 P40337:p.Leu63Pro SP substitution exon 1 VAR_034988 P40337:p.Arg64Pro SP substitution exon 1 VAR_034989 P40337:p.Ser65Ala SP substitution exon 1 VAR_034991 P40337:p.Arg107Gly SP substitution exon 1 VAR_034992 P40337:p.Tyr112Asn SP substitution exon 1 VAR_034993 P40337:p.Ala122Ile SP substitution exon 1 VAR_034994 P40337:p.Asp126Tyr SP substitution exon 1 VAR_034995 P40337:p.Leu135Phe SP substitution exon 1 VAR_034996 P40337:p.Ile147Thr SP substitution exon 1 VAR_034997 P40337:p.Tyr156Asn SP substitution exon 1 VAR_034998 P40337:p.Leu163Pro SP substitution exon 1 VAR_034999 P40337:p.His191Asp SP substitution exon 1 VAR_035000 P40337:p.Pro192Ser SP substitution exon 1 VAR_035001 P40337:p.Leu198Gln SP substitution exon 1 VAR_035002 Q8IYA8:p.Asp440Glu SP substitution exon 1 VAR_035003 Q8TBZ2:p.Ala387Thr SP substitution exon 1 VAR_035004 Q8TBZ2:p.Arg688Trp SP substitution exon 1 VAR_035005 Q8TBZ2:p.Ser910Arg SP substitution exon 1 VAR_035006 Q9P2H3:p.His105Gln SP substitution exon 1 VAR_035010 Q96QA5:p.Arg18Gln SP substitution exon 1 VAR_035011 Q96QA5:p.Val128Leu SP substitution exon 1 VAR_035012 Q96QA5:p.Glu130Lys SP substitution exon 1 VAR_035013 P36382:p.Pro88Ser SP substitution exon 1 VAR_035014 P36382:p.Ala96Ser SP substitution exon 1 VAR_035016 P04637:p.Arg337His SP substitution exon 1 VAR_035017 Q5T8I9:p.Thr129Ala SP substitution exon 1 VAR_035018 Q5T8I9:p.Arg230Gln SP substitution exon 1 VAR_035020 Q58WW2:p.Val547Ala SP substitution exon 1 VAR_035021 Q9BRJ9:p.Ala53Pro SP substitution exon 1 VAR_035022 A6NK53:p.Ser247Pro SP substitution exon 1 VAR_035024 Q9H5H4:p.Glu181Asp SP substitution exon 1 VAR_035025 O43435:p.Phe148Tyr SP substitution exon 1 VAR_035026 O43435:p.His194Gln SP substitution exon 1 VAR_035027 Q99697:p.Arg108His SP substitution exon 1 VAR_035029 Q99697:p.Val129Leu SP substitution exon 1 VAR_035030 P02538:p.Gly111Asp SP substitution exon 1 VAR_035031 P48668:p.Arg182Gln SP substitution exon 1 VAR_035032 P48668:p.Ser227Asn SP substitution exon 1 VAR_035033 P48668:p.Val481Ile SP substitution exon 1 VAR_035036 P16050:p.Gly102Val SP substitution exon 1 VAR_035037 P16050:p.Val239Met SP substitution exon 1 VAR_035038 P16050:p.Ala461Pro SP substitution exon 1 VAR_035039 P16050:p.Thr560Met SP substitution exon 1 VAR_035041 Q5VWT5:p.Ile125Met SP substitution exon 1 VAR_035042 Q8TBY8:p.Ala172Thr SP substitution exon 1 VAR_035043 Q8TBY8:p.Glu193Lys SP substitution exon 1 VAR_035044 Q8TBY8:p.Arg381Leu SP substitution exon 1 VAR_035045 Q8TBY8:p.Lys650Thr SP substitution exon 1 VAR_035046 Q9BUK6:p.Thr324Ile SP substitution exon 1 VAR_035048 Q9NY47:p.Ala138Val SP substitution exon 1 VAR_035049 Q7Z3S7:p.Ile327Val SP substitution exon 1 VAR_035052 Q5VU97:p.Met414Thr SP substitution exon 1 VAR_035053 A2RUS2:p.Ser143Asn SP substitution exon 1 VAR_035054 A2RUS2:p.Gln364Arg SP substitution exon 1 VAR_035055 Q6P3S1:p.Val216Met SP substitution exon 1 VAR_035056 Q8IV53:p.Ala23Thr SP substitution exon 1 VAR_035057 Q8IV53:p.Arg489Cys SP substitution exon 1 VAR_035058 Q8IV53:p.Ala542Val SP substitution exon 1 VAR_035059 Q5SWX8:p.Ser251Cys SP substitution exon 1 VAR_035060 Q2M2E3:p.Trp34Arg SP substitution exon 1 VAR_035061 Q2M2E3:p.Val98Met SP substitution exon 1 VAR_035062 Q2M2E3:p.Tyr139Cys SP substitution exon 1 VAR_035064 P21912:p.Arg46Gly SP substitution exon 1 VAR_035065 P21912:p.Cys101Tyr SP substitution exon 1 VAR_035066 P21912:p.Cys192Arg SP substitution exon 1 VAR_035067 P21912:p.Cys196Tyr SP substitution exon 1 VAR_035069 P42771:p.Gly122Arg SP substitution exon 1 VAR_035070 P48167:p.Gly251Asp SP substitution exon 1 VAR_035071 Q9UKU7:p.Met128Ile SP substitution exon 1 VAR_035072 Q9UKU7:p.Asp134Tyr SP substitution exon 1 VAR_035073 Q9UKU7:p.Gly137Arg SP substitution exon 1 VAR_035074 Q9UKU7:p.Met152Thr SP substitution exon 1 VAR_035075 Q9UKU7:p.Val203Ile SP substitution exon 1 VAR_035076 Q9UKU7:p.Arg302Gln SP substitution exon 1 VAR_035077 Q9UKU7:p.Ala320Thr SP substitution exon 1 VAR_035078 Q9UKU7:p.Arg334Cys SP substitution exon 1 VAR_035079 Q9UKU7:p.Gln385Arg SP substitution exon 1 VAR_035080 Q92793:p.Glu1278Lys SP substitution exon 1 VAR_035081 Q92793:p.Thr1447Ile SP substitution exon 1 VAR_035082 Q92793:p.Tyr1450His SP substitution exon 1 VAR_035083 Q92793:p.His1470Arg SP substitution exon 1 VAR_035084 Q92793:p.Arg1664His SP substitution exon 1 VAR_035086 P30556:p.Thr282Met SP substitution exon 1 VAR_035087 P00797:p.Arg230Lys SP substitution exon 1 VAR_035088 P00797:p.Asp104Asn SP substitution exon 1 VAR_035089 Q9H237:p.Gly60Arg SP substitution exon 1 VAR_035090 Q9H237:p.Arg365Gly SP substitution exon 1 VAR_035093 Q02750:p.Phe53Ser SP substitution exon 1 VAR_035094 Q02750:p.Tyr130Cys SP substitution exon 1 VAR_035095 P36507:p.Phe57Cys SP substitution exon 1 VAR_035096 P15056:p.Ser467Ala SP substitution exon 1 VAR_035097 P15056:p.Phe468Ser SP substitution exon 1 VAR_035098 P15056:p.Gly596Val SP substitution exon 1 VAR_035099 O15239:p.Gly8Arg SP substitution exon 1 VAR_035100 O15239:p.Arg37Ser SP substitution exon 1 VAR_035101 P18206:p.Leu277Met SP substitution exon 1 VAR_035102 P18206:p.Ala934Val SP substitution exon 1 VAR_035103 P18206:p.Pro943Ala SP substitution exon 1 VAR_035106 Q8NEQ5:p.Gly3Ser SP substitution exon 1 VAR_035107 Q9UHW5:p.Ala52Val SP substitution exon 1 VAR_035108 Q9UHW5:p.Val244Ala SP substitution exon 1 VAR_035109 Q9Y5P8:p.Asp163Glu SP substitution exon 1 VAR_035110 Q9NYA4:p.Leu170Val SP substitution exon 1 VAR_035111 Q9NYA4:p.Ser280Gly SP substitution exon 1 VAR_035112 Q9NYA4:p.Val297Gly SP substitution exon 1 VAR_035113 Q14390:p.Glu70Gly SP substitution exon 1 VAR_035114 A1A4S6:p.Met684Val SP substitution exon 1 VAR_035115 Q02952:p.Lys117Glu SP substitution exon 1 VAR_035116 Q02952:p.Lys216Gln SP substitution exon 1 VAR_035117 Q02952:p.Glu920Gly SP substitution exon 1 VAR_035118 Q02952:p.Val1096Ile SP substitution exon 1 VAR_035119 Q02952:p.Arg1296Leu SP substitution exon 1 VAR_035120 Q02952:p.Glu1355Lys SP substitution exon 1 VAR_035121 Q02952:p.Glu1600Asp SP substitution exon 1 VAR_035122 Q02952:p.Glu1689Asp SP substitution exon 1 VAR_035123 Q9NVR7:p.Lys149Arg SP substitution exon 1 VAR_035124 Q6Q788:p.Asp37Glu SP substitution exon 1 VAR_035125 P09619:p.Ser180Phe SP substitution exon 1 VAR_035126 Q9H3D4:p.Ser129Leu SP substitution exon 1 VAR_035127 Q9H3D4:p.Arg352Gly SP substitution exon 1 VAR_035128 Q9H3D4:p.Ile549Thr SP substitution exon 1 VAR_035129 Q9H3D4:p.Ser580Pro SP substitution exon 1 VAR_035130 Q9H3D4:p.Asp603His SP substitution exon 1 VAR_035131 Q5RHP9:p.Pro264Ala SP substitution exon 1 VAR_035132 Q5RHP9:p.Arg555His SP substitution exon 1 VAR_035133 Q5RHP9:p.Ile636Val SP substitution exon 1 VAR_035134 Q5RHP9:p.His691Arg SP substitution exon 1 VAR_035135 Q5RHP9:p.Leu1056Val SP substitution exon 1 VAR_035136 Q5RHP9:p.Val1528Met SP substitution exon 1 VAR_035137 Q8ND04:p.Pro280Leu SP substitution exon 1 VAR_035142 Q96LM6:p.Asp24Asn SP substitution exon 1 VAR_035144 Q6P9A1:p.Thr64Ala SP substitution exon 1 VAR_035145 Q6P9A1:p.His110Gln SP substitution exon 1 VAR_035146 Q6P9A1:p.Ser124Pro SP substitution exon 1 VAR_035147 Q6P9A1:p.Thr169Met SP substitution exon 1 VAR_035148 Q6P9A1:p.Gly262Ser SP substitution exon 1 VAR_035149 Q49AR2:p.Thr235Pro SP substitution exon 1 VAR_035150 Q49AR2:p.Asp405Glu SP substitution exon 1 VAR_035151 O43934:p.Ser428Phe SP substitution exon 1 VAR_035152 Q8NBP5:p.Ala129Ser SP substitution exon 1 VAR_035153 Q8NBP5:p.Ile288Thr SP substitution exon 1 VAR_035154 Q96EY7:p.Ala2Val SP substitution exon 1 VAR_035155 Q96EY7:p.Ser681Gly SP substitution exon 1 VAR_035156 Q8NBI5:p.Pro53Leu SP substitution exon 1 VAR_035157 Q9H2V7:p.Ala230Pro SP substitution exon 1 VAR_035158 Q6ZMD2:p.Gly293Arg SP substitution exon 1 VAR_035159 Q6ZMD2:p.Ala330Ser SP substitution exon 1 VAR_035160 Q658N2:p.His212Tyr SP substitution exon 1 VAR_035161 Q2TBF2:p.Thr266Ile SP substitution exon 1 VAR_035162 Q5VXM1:p.Gly244Arg SP substitution exon 1 VAR_035163 Q9H008:p.Gln94Arg SP substitution exon 1 VAR_035164 Q9NUZ1:p.Thr255Met SP substitution exon 1 VAR_035166 Q3MHD2:p.Pro77Arg SP substitution exon 1 VAR_035167 Q96N22:p.Asp84His SP substitution exon 1 VAR_035168 Q96N22:p.Leu295Ser SP substitution exon 1 VAR_035169 Q5TGY1:p.Gln72Lys SP substitution exon 1 VAR_035170 Q5TGY1:p.Arg478His SP substitution exon 1 VAR_035173 Q9ULD2:p.Gln75Lys SP substitution exon 1 VAR_035174 Q9ULD2:p.Cys148Arg SP substitution exon 1 VAR_035175 Q9ULD2:p.Thr186Ser SP substitution exon 1 VAR_035176 Q9ULD2:p.Thr425Met SP substitution exon 1 VAR_035177 Q9ULD2:p.Lys453Thr SP substitution exon 1 VAR_035178 Q9ULD2:p.Ala563Ser SP substitution exon 1 VAR_035179 Q9ULD2:p.His575Arg SP substitution exon 1 VAR_035180 Q9ULD2:p.Asn873His SP substitution exon 1 VAR_035185 Q6UVY6:p.Glu488Gln SP substitution exon 1 VAR_035186 Q6UVY6:p.Lys539Glu SP substitution exon 1 VAR_035187 Q5T5U3:p.Asn712Ser SP substitution exon 1 VAR_035193 Q4G0X9:p.Ala8Pro SP substitution exon 1 VAR_035194 Q9BVW5:p.Arg53Pro SP substitution exon 1 VAR_035195 Q9BVW5:p.Ala111Gly SP substitution exon 1 VAR_035197 Q8N999:p.Pro23Leu SP substitution exon 1 VAR_035198 Q8N999:p.Val238Leu SP substitution exon 1 VAR_035199 A0AV02:p.Arg181Cys SP substitution exon 1 VAR_035200 A0AV02:p.Pro266Leu SP substitution exon 1 VAR_035201 A0AV02:p.Lys541Arg SP substitution exon 1 VAR_035202 A0AV02:p.Arg664Gln SP substitution exon 1 VAR_035203 Q8TBN0:p.Gln49Arg SP substitution exon 1 VAR_035204 Q8TBN0:p.His323Tyr SP substitution exon 1 VAR_035205 P50479:p.Arg118Gly SP substitution exon 1 VAR_035206 P50479:p.Val184Ile SP substitution exon 1 VAR_035207 P50479:p.Gly259Cys SP substitution exon 1 VAR_035209 Q8TAA9:p.Val239Ile SP substitution exon 1 VAR_035210 Q8TAA9:p.Arg274Gln SP substitution exon 1 VAR_035211 Q8TAA9:p.Met328Thr SP substitution exon 1 VAR_035212 Q9Y616:p.Pro22Leu SP substitution exon 1 VAR_035213 Q9Y616:p.Pro111Ala SP substitution exon 1 VAR_035214 Q9Y616:p.Val134Met SP substitution exon 1 VAR_035215 Q9Y616:p.Leu400Val SP substitution exon 1 VAR_035216 Q9Y616:p.Arg429Gln SP substitution exon 1 VAR_035217 Q99965:p.Gly10Trp SP substitution exon 1 VAR_035218 Q8N123:p.Tyr3Ser SP substitution exon 1 VAR_035219 Q8N123:p.Arg131His SP substitution exon 1 VAR_035220 Q8NFC6:p.Thr429Met SP substitution exon 1 VAR_035221 Q8NFC6:p.Leu650Ile SP substitution exon 1 VAR_035222 Q8NFC6:p.Ala1369Gly SP substitution exon 1 VAR_035223 Q8NFC6:p.Thr1448Ala SP substitution exon 1 VAR_035224 Q8NFC6:p.Thr1515Ala SP substitution exon 1 VAR_035225 Q8NFC6:p.Val1645Ile SP substitution exon 1 VAR_035228 Q6ZTQ4:p.Val55Met SP substitution exon 1 VAR_035229 Q6ZTQ4:p.Gln61His SP substitution exon 1 VAR_035230 Q6ZTQ4:p.Cys529Tyr SP substitution exon 1 VAR_035231 Q8NDL9:p.Gly649Asp SP substitution exon 1 VAR_035232 Q9NYR8:p.His136Gln SP substitution exon 1 VAR_035233 Q9NYR8:p.Met202Thr SP substitution exon 1 VAR_035234 Q8N3Y7:p.Arg62Trp SP substitution exon 1 VAR_035235 Q5T5C0:p.Asn436Ser SP substitution exon 1 VAR_035236 P68871:p.Leu29Gln SP substitution exon 1 VAR_035239 P68871:p.Phe43Ser SP substitution exon 1 VAR_035240 P68871:p.Val68Asp SP substitution exon 1 VAR_035242 P69905:p.Leu137Arg SP substitution exon 1 VAR_035243 O95231:p.Leu42Pro SP substitution exon 1 VAR_035244 O95231:p.Met79Val SP substitution exon 1 VAR_035245 Q08AH1:p.Ile479Val SP substitution exon 1 VAR_035246 Q08AH1:p.Ile515Thr SP substitution exon 1 VAR_035249 Q53FZ2:p.Leu100Pro SP substitution exon 1 VAR_035250 Q53FZ2:p.Pro308Thr SP substitution exon 1 VAR_035251 Q53FZ2:p.Lys367Asn SP substitution exon 1 VAR_035252 Q6NUN0:p.Gln159His SP substitution exon 1 VAR_035253 Q6NUN0:p.Pro352Arg SP substitution exon 1 VAR_035254 Q6NUN0:p.His360Arg SP substitution exon 1 VAR_035255 Q6NUN0:p.Thr533Met SP substitution exon 1 VAR_035256 Q9P2J2:p.Gly34Glu SP substitution exon 1 VAR_035257 Q9P2J2:p.Arg474Pro SP substitution exon 1 VAR_035258 Q9P2J2:p.Pro914Leu SP substitution exon 1 VAR_035259 Q9P2J2:p.Ser1026Thr SP substitution exon 1 VAR_035260 Q9P2J2:p.Pro1117Thr SP substitution exon 1 VAR_035261 Q6UXG3:p.Asp221Asn SP substitution exon 1 VAR_035262 Q6UXG3:p.Thr228Ala SP substitution exon 1 VAR_035263 Q96FV2:p.Glu273Gln SP substitution exon 1 VAR_035264 Q96FV2:p.Gln330Arg SP substitution exon 1 VAR_035265 Q96AQ6:p.Gly357Asp SP substitution exon 1 VAR_035266 Q5SNV9:p.Pro453Ser SP substitution exon 1 VAR_035267 Q5SNV9:p.Arg544Gln SP substitution exon 1 VAR_035268 Q5SNV9:p.Arg602Trp SP substitution exon 1 VAR_035277 Q5VYV7:p.Arg317Gln SP substitution exon 1 VAR_035278 Q9HCE0:p.Glu844Asp SP substitution exon 1 VAR_035279 Q9HCE0:p.Val1058Ala SP substitution exon 1 VAR_035280 Q9HCE0:p.Ile1131Val SP substitution exon 1 VAR_035284 Q8N205:p.Ser224Leu SP substitution exon 1 VAR_035285 Q8N205:p.Gln278His SP substitution exon 1 VAR_035286 Q9P2T0:p.Arg202Ile SP substitution exon 1 VAR_035287 Q9P2T0:p.Arg267Gln SP substitution exon 1 VAR_035288 Q9P2T0:p.His297Tyr SP substitution exon 1 VAR_035289 Q9P2T0:p.Asp353Asn SP substitution exon 1 VAR_035290 Q86UQ0:p.Thr216Arg SP substitution exon 1 VAR_035291 Q8IWZ3:p.Leu175Met SP substitution exon 1 VAR_035292 Q8IWZ3:p.Gly228Cys SP substitution exon 1 VAR_035293 Q8IWZ3:p.Asn1760Ser SP substitution exon 1 VAR_035298 Q3MIN7:p.Pro162His SP substitution exon 1 VAR_035299 Q3MIN7:p.Ala164Val SP substitution exon 1 VAR_035300 Q3MIN7:p.Arg615Cys SP substitution exon 1 VAR_035301 Q5T1H1:p.Thr120Met SP substitution exon 1 VAR_035302 Q63HQ2:p.Arg111His SP substitution exon 1 VAR_035303 Q63HQ2:p.Trp229Arg SP substitution exon 1 VAR_035304 Q63HQ2:p.Thr473Met SP substitution exon 1 VAR_035305 Q63HQ2:p.His576Asn SP substitution exon 1 VAR_035306 Q5SYB0:p.Thr6Pro SP substitution exon 1 VAR_035307 Q5SYB0:p.Ala44Thr SP substitution exon 1 VAR_035308 Q5SYB0:p.Thr50Asn SP substitution exon 1 VAR_035309 Q5SYB0:p.Ala225Val SP substitution exon 1 VAR_035310 Q5SYB0:p.Tyr846Asp SP substitution exon 1 VAR_035311 Q5SYB0:p.Gly1092Glu SP substitution exon 1 VAR_035312 Q3KQU3:p.Arg104Trp SP substitution exon 1 VAR_035313 Q96T17:p.Asn182Ser SP substitution exon 1 VAR_035314 Q8IWC1:p.Glu502Ala SP substitution exon 1 VAR_035315 Q8IWC1:p.Gln628Arg SP substitution exon 1 VAR_035316 Q8N3E9:p.Pro652Leu SP substitution exon 1 VAR_035322 Q5T6F0:p.Arg131Gln SP substitution exon 1 VAR_035323 Q5VU92:p.Asp19Gly SP substitution exon 1 VAR_035324 Q9H7P9:p.Thr540Ile SP substitution exon 1 VAR_035325 Q9H7P9:p.Ile622Val SP substitution exon 1 VAR_035326 Q9H7P9:p.Arg647His SP substitution exon 1 VAR_035327 Q9H7P9:p.Arg992Lys SP substitution exon 1 VAR_035328 Q9H7P9:p.Ala1302Thr SP substitution exon 1 VAR_035329 Q9H7P9:p.Pro1329Ala SP substitution exon 1 VAR_035331 Q8TF50:p.Val94Ala SP substitution exon 1 VAR_035332 Q8TF50:p.Ser511Phe SP substitution exon 1 VAR_035333 Q96JF6:p.Ile171Thr SP substitution exon 1 VAR_035334 Q96JF6:p.Val199Gly SP substitution exon 1 VAR_035335 Q86XN6:p.Ser122Ile SP substitution exon 1 VAR_035336 Q86XN6:p.Ile168Val SP substitution exon 1 VAR_035337 Q86XN6:p.Ser528Gly SP substitution exon 1 VAR_035338 Q86XN6:p.Gln603Glu SP substitution exon 1 VAR_035339 Q5MY95:p.Leu62Pro SP substitution exon 1 VAR_035341 Q9Y5Q0:p.Lys192Asn SP substitution exon 1 VAR_035342 Q9Y5Q0:p.Asn216Lys SP substitution exon 1 VAR_035343 Q86WV1:p.Ser242Gly SP substitution exon 1 VAR_035344 Q8IVE3:p.Pro481Thr SP substitution exon 1 VAR_035345 Q8IVE3:p.Arg1069Lys SP substitution exon 1 VAR_035347 Q05655:p.Asn348Ser SP substitution exon 1 VAR_035348 Q05655:p.Leu410Phe SP substitution exon 1 VAR_035349 O95342:p.Val284Ala SP substitution exon 1 VAR_035350 O95342:p.Arg616Gly SP substitution exon 1 VAR_035351 O95342:p.Thr619Ala SP substitution exon 1 VAR_035352 O95342:p.Arg698His SP substitution exon 1 VAR_035356 Q5T9Z0:p.Tyr130His SP substitution exon 1 VAR_035358 Q76NI1:p.Glu436Gly SP substitution exon 1 VAR_035359 Q76NI1:p.Gly581Ser SP substitution exon 1 VAR_035360 Q76NI1:p.Leu717Pro SP substitution exon 1 VAR_035361 Q86VH2:p.Ile213Val SP substitution exon 1 VAR_035362 Q86VH2:p.Arg300Gln SP substitution exon 1 VAR_035363 Q2M1P5:p.Ser958Ile SP substitution exon 1 VAR_035364 Q2M1P5:p.Gly1005Arg SP substitution exon 1 VAR_035365 Q6H9L7:p.Ala94Thr SP substitution exon 1 VAR_035366 Q6H9L7:p.Pro133Ala SP substitution exon 1 VAR_035367 Q5SQN1:p.Arg48Gly SP substitution exon 1 VAR_035368 Q5SQN1:p.Gly119Arg SP substitution exon 1 VAR_035369 Q5SQN1:p.Val154Met SP substitution exon 1 VAR_035370 Q5SQN1:p.Arg381Cys SP substitution exon 1 VAR_035371 Q2TAL6:p.Ala120Gly SP substitution exon 1 VAR_035372 Q9Y5P6:p.His126Asp SP substitution exon 1 VAR_035373 Q9Y5P6:p.Gln184Arg SP substitution exon 1 VAR_035375 P50876:p.Thr4Ala SP substitution exon 1 VAR_035376 Q5TEU4:p.Leu337Phe SP substitution exon 1 VAR_035377 Q5T7N2:p.Arg27Ser SP substitution exon 1 VAR_035378 Q5T7N2:p.Val246Ala SP substitution exon 1 VAR_035379 Q5T7N2:p.Val309Met SP substitution exon 1 VAR_035380 Q5T7N2:p.Lys329Asn SP substitution exon 1 VAR_035381 Q5T7N2:p.Pro549Thr SP substitution exon 1 VAR_035382 Q5T7N2:p.Thr613Ile SP substitution exon 1 VAR_035383 Q96PB1:p.Arg386Ser SP substitution exon 1 VAR_035384 Q86X02:p.Asp300Glu SP substitution exon 1 VAR_035385 Q5BJH7:p.Pro56Ser SP substitution exon 1 VAR_035386 Q9Y6J6:p.Arg77Trp SP substitution exon 1 VAR_035387 P06734:p.Arg62Trp SP substitution exon 1 VAR_035389 Q9BWN1:p.Pro359Leu SP substitution exon 1 VAR_035390 Q6UXN2:p.Trp73Arg SP substitution exon 1 VAR_035391 Q6UXN2:p.Thr146Lys SP substitution exon 1 VAR_035392 Q6UXN2:p.Thr168Ile SP substitution exon 1 VAR_035393 Q86VY4:p.Thr120Ser SP substitution exon 1 VAR_035394 Q86VY4:p.Ile365Val SP substitution exon 1 VAR_035395 Q8N831:p.Ala60Val SP substitution exon 1 VAR_035396 Q8N831:p.Gly109Ser SP substitution exon 1 VAR_035397 Q8N831:p.Pro116Leu SP substitution exon 1 VAR_035398 Q8N831:p.Arg246Cys SP substitution exon 1 VAR_035399 Q6P4I2:p.Arg249His SP substitution exon 1 VAR_035400 Q8TCW7:p.Ile12Phe SP substitution exon 1 VAR_035401 Q8TCW7:p.Asn29Ser SP substitution exon 1 VAR_035402 Q8TCW7:p.Thr197Ala SP substitution exon 1 VAR_035403 Q86UD4:p.Asn182Asp SP substitution exon 1 VAR_035405 Q16670:p.Arg220Ser SP substitution exon 1 VAR_035406 Q24JQ0:p.Leu131Phe SP substitution exon 1 VAR_035407 Q9H790:p.Asp115Asn SP substitution exon 1 VAR_035408 Q9H790:p.Gly172Val SP substitution exon 1 VAR_035409 Q5T292:p.Pro83Leu SP substitution exon 1 VAR_035410 Q9NWS0:p.Met9Leu SP substitution exon 1 VAR_035411 Q9NWS0:p.Gly10Glu SP substitution exon 1 VAR_035412 Q9NWS0:p.Val224Ile SP substitution exon 1 VAR_035413 Q9NWS0:p.Asp230Glu SP substitution exon 1 VAR_035414 Q9NWS0:p.Pro287Leu SP substitution exon 1 VAR_035415 Q8WWB5:p.Ala117Val SP substitution exon 1 VAR_035416 Q9Y5P4:p.Gly67Glu SP substitution exon 1 VAR_035417 Q8TBB6:p.Gly330Arg SP substitution exon 1 VAR_035418 Q5GFL6:p.Ala9Thr SP substitution exon 1 VAR_035419 Q5GFL6:p.Glu131Gly SP substitution exon 1 VAR_035420 Q9Y3T6:p.Ala136Thr SP substitution exon 1 VAR_035421 Q9Y3T6:p.Arg185Lys SP substitution exon 1 VAR_035431 P01019:p.Thr137Met SP substitution exon 1 VAR_035432 P01019:p.Pro335Ser SP substitution exon 1 VAR_035433 P01019:p.Arg375Gln SP substitution exon 1 VAR_035434 P12821:p.Gly354Arg SP substitution exon 1 VAR_035435 Q8TAA9:p.Glu347Ala SP substitution exon 1 VAR_035436 P51587:p.Ser599Phe SP substitution exon 1 VAR_035437 O15315:p.Val207Leu SP substitution exon 1 VAR_035438 P35527:p.Leu160Phe SP substitution exon 1 VAR_035439 P35527:p.Val171Met SP substitution exon 1 VAR_035441 P18505:p.Ile429Asn SP substitution exon 1 VAR_035442 Q96C74:p.Asn103Lys SP substitution exon 1 VAR_035443 Q96C74:p.Pro156Arg SP substitution exon 1 VAR_035444 Q96JA3:p.Val368Glu SP substitution exon 1 VAR_035445 Q5SYB0:p.Gly572Asp SP substitution exon 1 VAR_035446 Q68DX3:p.Arg727Trp SP substitution exon 1 VAR_035447 O75081:p.Arg306His SP substitution exon 1 VAR_035450 Q96T17:p.Ala32Pro SP substitution exon 1 VAR_035454 Q13813:p.Ser904Cys SP substitution exon 1 VAR_035455 Q13813:p.Pro1017Ser SP substitution exon 1 VAR_035458 O15020:p.Glu774Lys SP substitution exon 1 VAR_035459 O75340:p.Gly123Cys SP substitution exon 1 VAR_035460 Q15293:p.Phe117Leu SP substitution exon 1 VAR_035461 Q9BRK5:p.Ala148Thr SP substitution exon 1 VAR_035462 P13797:p.Asp488Ala SP substitution exon 1 VAR_035463 Q9Y2W7:p.Ala170Ser SP substitution exon 1 VAR_035464 Q9Y2W7:p.Asp179Tyr SP substitution exon 1 VAR_035465 Q8IY85:p.Gln286His SP substitution exon 1 VAR_035466 Q02156:p.Glu143Lys SP substitution exon 1 VAR_035468 Q15139:p.His152Tyr SP substitution exon 1 VAR_035469 Q15139:p.Glu857Lys SP substitution exon 1 VAR_035470 Q9NVE7:p.Glu475Lys SP substitution exon 1 VAR_035471 Q8N1G4:p.Glu193Asp SP substitution exon 1 VAR_035472 O60318:p.Leu409Val SP substitution exon 1 VAR_035474 Q86UW6:p.Pro283Ala SP substitution exon 1 VAR_035475 Q8TDI0:p.Val45Met SP substitution exon 1 VAR_035476 Q8TDI0:p.Asp119Asn SP substitution exon 1 VAR_035477 Q8TDI0:p.Arg667Gly SP substitution exon 1 VAR_035478 Q07011:p.Glu250Gly SP substitution exon 1 VAR_035479 Q02809:p.Gln123His SP substitution exon 1 VAR_035480 Q96EP5:p.Ser381Thr SP substitution exon 1 VAR_035481 P35637:p.Lys312Gln SP substitution exon 1 VAR_035482 Q8IZ69:p.Pro604Ser SP substitution exon 1 VAR_035483 Q96T58:p.Asp990His SP substitution exon 1 VAR_035484 Q96T58:p.Arg1488Ile SP substitution exon 1 VAR_035485 O43347:p.Glu160Gln SP substitution exon 1 VAR_035486 P98175:p.Arg396His SP substitution exon 1 VAR_035487 P08579:p.Lys19Gln SP substitution exon 1 VAR_035488 Q07955:p.Pro89Ser SP substitution exon 1 VAR_035489 Q13247:p.Arg145Gln SP substitution exon 1 VAR_035490 Q8N2M8:p.Leu213Ser SP substitution exon 1 VAR_035491 Q8NEQ6:p.Gly52Trp SP substitution exon 1 VAR_035492 Q8NEQ6:p.Gly100Trp SP substitution exon 1 VAR_035493 Q8N0U7:p.Gln151Glu SP substitution exon 1 VAR_035494 Q5SY80:p.Thr653Ile SP substitution exon 1 VAR_035495 Q68CQ1:p.Ser183Tyr SP substitution exon 1 VAR_035496 Q6ZRS4:p.Leu105Val SP substitution exon 1 VAR_035497 Q8IX12:p.Glu607Lys SP substitution exon 1 VAR_035498 Q6P9F0:p.Gln31Glu SP substitution exon 1 VAR_035499 Q567U6:p.His315Arg SP substitution exon 1 VAR_035500 Q8NC60:p.Gln579Arg SP substitution exon 1 VAR_035502 Q9ULW8:p.Gly509Arg SP substitution exon 1 VAR_035503 Q9BWV1:p.Val713Met SP substitution exon 1 VAR_035504 P06729:p.Cys217Tyr SP substitution exon 1 VAR_035505 O00533:p.Leu411Ile SP substitution exon 1 VAR_035506 Q12860:p.Pro794His SP substitution exon 1 VAR_035507 Q8IWV2:p.Thr176Pro SP substitution exon 1 VAR_035508 Q8IWV2:p.Lys420Asn SP substitution exon 1 VAR_035509 Q9UQ52:p.Thr108Ala SP substitution exon 1 VAR_035510 Q9UQ52:p.Ser585Cys SP substitution exon 1 VAR_035511 P43146:p.Phe1039Ser SP substitution exon 1 VAR_035512 Q8TD84:p.Val659Ile SP substitution exon 1 VAR_035513 Q8TD84:p.Val1702Ile SP substitution exon 1 VAR_035514 Q96RD9:p.Ser687Cys SP substitution exon 1 VAR_035515 Q9UMF0:p.Leu140Val SP substitution exon 1 VAR_035516 Q9UMF0:p.Arg188Trp SP substitution exon 1 VAR_035517 Q9UMF0:p.Glu488Gln SP substitution exon 1 VAR_035519 Q9HBW1:p.Thr579Ala SP substitution exon 1 VAR_035520 Q9UBF9:p.Ser33Ile SP substitution exon 1 VAR_035521 Q9NY72:p.Gln89Leu SP substitution exon 1 VAR_035522 Q9NY72:p.Ala195Thr SP substitution exon 1 VAR_035523 Q9Y286:p.Leu215Pro SP substitution exon 1 VAR_035524 Q13291:p.Leu81Phe SP substitution exon 1 VAR_035525 Q9NP99:p.Arg97Ser SP substitution exon 1 VAR_035526 Q86YW5:p.Leu6Val SP substitution exon 1 VAR_035527 O76036:p.Asp87Tyr SP substitution exon 1 VAR_035528 Q92823:p.His1093Pro SP substitution exon 1 VAR_035529 Q92823:p.Gly1116Val SP substitution exon 1 VAR_035530 Q5VST9:p.Ala1136Val SP substitution exon 1 VAR_035531 Q5VST9:p.Arg1792His SP substitution exon 1 VAR_035532 Q5VST9:p.Val1930Met SP substitution exon 1 VAR_035533 Q5VST9:p.Glu2090Lys SP substitution exon 1 VAR_035534 Q5VST9:p.Ser2314Phe SP substitution exon 1 VAR_035535 Q5VST9:p.Arg3983Gln SP substitution exon 1 VAR_035536 Q5VST9:p.Arg4558His SP substitution exon 1 VAR_035537 Q5VST9:p.Arg4810Gln SP substitution exon 1 VAR_035538 Q5VST9:p.Ala5071Thr SP substitution exon 1 VAR_035539 Q8IW00:p.Arg100His SP substitution exon 1 VAR_035540 Q5T4S7:p.Arg1394His SP substitution exon 1 VAR_035541 Q9UJF2:p.Arg165Trp SP substitution exon 1 VAR_035542 Q9UJF2:p.Glu379Asp SP substitution exon 1 VAR_035543 P21359:p.Leu1187Ile SP substitution exon 1 VAR_035544 P21359:p.Pro1951Leu SP substitution exon 1 VAR_035545 P21359:p.Gly2745Arg SP substitution exon 1 VAR_035546 Q6P4F7:p.Glu605Lys SP substitution exon 1 VAR_035547 P47736:p.Cys257Arg SP substitution exon 1 VAR_035548 P47736:p.Tyr609Cys SP substitution exon 1 VAR_035549 O43166:p.Glu996Asp SP substitution exon 1 VAR_035550 O43295:p.Leu623Ile SP substitution exon 1 VAR_035551 P02746:p.Ala123Thr SP substitution exon 1 VAR_035552 Q9BXA9:p.Arg143His SP substitution exon 1 VAR_035553 Q9H165:p.Ser142Phe SP substitution exon 1 VAR_035554 Q9C0K0:p.Ser331Pro SP substitution exon 1 VAR_035555 Q13887:p.Pro301Ser SP substitution exon 1 VAR_035556 Q5VTD9:p.Arg231His SP substitution exon 1 VAR_035557 P08151:p.Pro210Ala SP substitution exon 1 VAR_035558 P08151:p.Thr514Ile SP substitution exon 1 VAR_035559 P08151:p.Glu817Gln SP substitution exon 1 VAR_035560 P10071:p.Pro169Leu SP substitution exon 1 VAR_035561 P10071:p.Ser1304Pro SP substitution exon 1 VAR_035562 Q9GZU2:p.Arg594His SP substitution exon 1 VAR_035563 O60315:p.Asp983Asn SP substitution exon 1 VAR_035564 Q9NTW7:p.Asp593Glu SP substitution exon 1 VAR_035565 Q9NTW7:p.Lys609Asn SP substitution exon 1 VAR_035566 P17026:p.His129Leu SP substitution exon 1 VAR_035567 P17030:p.Glu21Lys SP substitution exon 1 VAR_035568 P17030:p.Asp81Gly SP substitution exon 1 VAR_035569 P17038:p.Arg244Cys SP substitution exon 1 VAR_035570 Q96N20:p.Gln228Glu SP substitution exon 1 VAR_035571 Q12901:p.His474Arg SP substitution exon 1 VAR_035572 O75362:p.Asp323Asn SP substitution exon 1 VAR_035573 Q9UNY5:p.Ala123Val SP substitution exon 1 VAR_035574 Q9NRM2:p.Ile332Leu SP substitution exon 1 VAR_035576 Q9Y2X9:p.Ile527Thr SP substitution exon 1 VAR_035577 O94892:p.Leu416Val SP substitution exon 1 VAR_035578 O94892:p.Cys490Tyr SP substitution exon 1 VAR_035579 Q9C0F3:p.Cys196Gly SP substitution exon 1 VAR_035580 Q7Z4V0:p.Lys381Asn SP substitution exon 1 VAR_035581 Q9H7R0:p.Pro152Ser SP substitution exon 1 VAR_035582 Q9H7R0:p.Cys243Ser SP substitution exon 1 VAR_035583 Q9BX82:p.Phe361Cys SP substitution exon 1 VAR_035584 Q8WV37:p.His361Gln SP substitution exon 1 VAR_035585 Q9HCE3:p.Ser822Leu SP substitution exon 1 VAR_035586 Q8NDQ6:p.Lys275Ile SP substitution exon 1 VAR_035587 Q86UE3:p.Leu15Val SP substitution exon 1 VAR_035588 Q96MR9:p.Gly186Glu SP substitution exon 1 VAR_035589 Q5MCW4:p.Gln29Glu SP substitution exon 1 VAR_035590 Q5MCW4:p.Glu87Gly SP substitution exon 1 VAR_035591 Q7Z3I7:p.Cys512Phe SP substitution exon 1 VAR_035592 Q9P2J8:p.Cys558Ser SP substitution exon 1 VAR_035593 Q9H582:p.Glu53Gln SP substitution exon 1 VAR_035594 O15015:p.Asn1337Ile SP substitution exon 1 VAR_035595 Q96K58:p.Ala66Thr SP substitution exon 1 VAR_035596 Q96K58:p.Gly286Ser SP substitution exon 1 VAR_035597 Q96K58:p.Thr331Arg SP substitution exon 1 VAR_035598 Q96K58:p.Arg556Gln SP substitution exon 1 VAR_035599 Q7Z570:p.Asn324Ser SP substitution exon 1 VAR_035600 Q9H5J0:p.His424Leu SP substitution exon 1 VAR_035601 Q9H5J0:p.Ser455Phe SP substitution exon 1 VAR_035602 Q8NAP8:p.Glu181Lys SP substitution exon 1 VAR_035603 Q9BUG6:p.Glu146Gln SP substitution exon 1 VAR_035604 Q9H4T2:p.Arg137Gln SP substitution exon 1 VAR_035605 P16157:p.Asp332His SP substitution exon 1 VAR_035610 Q8N6D5:p.Val95Met SP substitution exon 1 VAR_035611 Q9BXX3:p.Gln227Glu SP substitution exon 1 VAR_035612 Q8TDY4:p.Ala617Thr SP substitution exon 1 VAR_035613 Q06547:p.Pro31Ala SP substitution exon 1 VAR_035614 Q5TH74:p.Ser254Phe SP substitution exon 1 VAR_035615 Q02161:p.Ser103Cys SP substitution exon 1 VAR_035616 Q8NAX2:p.Arg312His SP substitution exon 1 VAR_035618 Q96MH7:p.Ser266Arg SP substitution exon 1 VAR_035619 Q5TGL8:p.Glu203Gln SP substitution exon 1 VAR_035620 Q6ZUT6:p.Gly189Glu SP substitution exon 1 VAR_035621 Q8N328:p.Asp415Gly SP substitution exon 1 VAR_035622 Q13131:p.Gln16Arg SP substitution exon 1 VAR_035623 P54646:p.Pro371Thr SP substitution exon 1 VAR_035624 P54646:p.Ser523Gly SP substitution exon 1 VAR_035625 O60229:p.Ser1896Cys SP substitution exon 1 VAR_035626 O14920:p.Ala360Ser SP substitution exon 1 VAR_035627 P51812:p.Ile416Val SP substitution exon 1 VAR_035628 P23443:p.Gly289Glu SP substitution exon 1 VAR_035629 O95382:p.Pro869Thr SP substitution exon 1 VAR_035630 Q32MK0:p.Gly390Arg SP substitution exon 1 VAR_035631 Q9NQU5:p.Arg3His SP substitution exon 1 VAR_035632 Q99570:p.Arg936Gln SP substitution exon 1 VAR_035633 Q13523:p.Phe658Leu SP substitution exon 1 VAR_035634 Q9Y2K2:p.His331Leu SP substitution exon 1 VAR_035635 Q9Y2K2:p.Ala1103Val SP substitution exon 1 VAR_035636 Q96BR1:p.Ala92Val SP substitution exon 1 VAR_035639 Q59H18:p.Arg629Gly SP substitution exon 1 VAR_035640 Q9H4A3:p.Glu1199Gly SP substitution exon 1 VAR_035641 Q9H4A3:p.Gln1799Glu SP substitution exon 1 VAR_035642 Q13190:p.Gln79His SP substitution exon 1 VAR_035643 Q86Y82:p.Pro88Arg SP substitution exon 1 VAR_035644 Q9H596:p.Arg167Cys SP substitution exon 1 VAR_035645 P23468:p.Arg28Gln SP substitution exon 1 VAR_035646 P23468:p.Leu276Pro SP substitution exon 1 VAR_035647 P23468:p.Val901Ala SP substitution exon 1 VAR_035648 Q92932:p.Glu716Lys SP substitution exon 1 VAR_035649 Q13332:p.Thr996Met SP substitution exon 1 VAR_035650 Q92729:p.His830Tyr SP substitution exon 1 VAR_035651 Q92729:p.Arg835Trp SP substitution exon 1 VAR_035652 Q92729:p.Arg856Cys SP substitution exon 1 VAR_035653 P08575:p.Glu228Ala SP substitution exon 1 VAR_035654 P08575:p.Gly863Arg SP substitution exon 1 VAR_035655 Q9UNH5:p.Asp493Tyr SP substitution exon 1 VAR_035656 Q13615:p.Val221Leu SP substitution exon 1 VAR_035657 P53814:p.Arg637Gln SP substitution exon 1 VAR_035658 P53814:p.Ala763Val SP substitution exon 1 VAR_035659 O75602:p.Val106Leu SP substitution exon 1 VAR_035660 Q6ZMY3:p.Arg671Trp SP substitution exon 1 VAR_035661 Q9BX66:p.Thr195Ala SP substitution exon 1 VAR_035662 Q96SI9:p.Gly280Arg SP substitution exon 1 VAR_035663 Q96L08:p.Ser140Thr SP substitution exon 1 VAR_035664 Q9Y228:p.Pro529Ser SP substitution exon 1 VAR_035665 Q86VP1:p.Gln457Arg SP substitution exon 1 VAR_035666 Q13428:p.Arg1030Lys SP substitution exon 1 VAR_035667 P52655:p.Leu30Val SP substitution exon 1 VAR_035668 Q92734:p.Ala149Ser SP substitution exon 1 VAR_035669 Q96AQ2:p.Arg107Leu SP substitution exon 1 VAR_035670 Q9NV12:p.Ala112Glu SP substitution exon 1 VAR_035671 Q5U3C3:p.Tyr276His SP substitution exon 1 VAR_035673 Q9NVM9:p.Ser227Pro SP substitution exon 1 VAR_035674 Q9HAW4:p.His439Arg SP substitution exon 1 VAR_035675 Q96KW9:p.Arg25Trp SP substitution exon 1 VAR_035677 Q9H8Y1:p.Val133Met SP substitution exon 1 VAR_035678 Q5H9T9:p.Thr262Arg SP substitution exon 1 VAR_035679 Q5H9T9:p.Gln764Lys SP substitution exon 1 VAR_035680 Q5H9T9:p.Ser775Leu SP substitution exon 1 VAR_035681 Q8WXI2:p.Arg46His SP substitution exon 1 VAR_035682 Q9NZP6:p.Arg37Gln SP substitution exon 1 VAR_035683 Q9NZP6:p.Val114Ile SP substitution exon 1 VAR_035684 P81408:p.Ser358Phe SP substitution exon 1 VAR_035685 A2RTY3:p.Ile330Met SP substitution exon 1 VAR_035686 Q96ND0:p.Arg82His SP substitution exon 1 VAR_035687 Q96ND0:p.Val140Glu SP substitution exon 1 VAR_035688 Q7Z407:p.Trp322Gly SP substitution exon 1 VAR_035689 Q7Z407:p.Arg3079His SP substitution exon 1 VAR_035690 Q7Z407:p.Arg3359Gln SP substitution exon 1 VAR_035691 Q9NTX9:p.Ser95Gly SP substitution exon 1 VAR_035694 Q13002:p.Glu187Gln SP substitution exon 1 VAR_035695 Q13003:p.Arg215His SP substitution exon 1 VAR_035696 Q13003:p.Asp391His SP substitution exon 1 VAR_035697 O43424:p.Thr209Asn SP substitution exon 1 VAR_035698 O15399:p.Pro140Ser SP substitution exon 1 VAR_035699 O15399:p.Gly286Arg SP substitution exon 1 VAR_035700 O15399:p.Glu527Gly SP substitution exon 1 VAR_035701 O14645:p.Ile120Met SP substitution exon 1 VAR_035702 Q13952:p.Gln165His SP substitution exon 1 VAR_035703 Q99437:p.Val155Met SP substitution exon 1 VAR_035704 O00519:p.Ala345Asp SP substitution exon 1 VAR_035705 P55084:p.Ala119Val SP substitution exon 1 VAR_035706 P22307:p.Ala155Asp SP substitution exon 1 VAR_035707 O00341:p.Arg41Cys SP substitution exon 1 VAR_035708 Q96E52:p.Leu226Val SP substitution exon 1 VAR_035709 Q9UJC3:p.Ser433Leu SP substitution exon 1 VAR_035710 Q86VS8:p.Gln221Arg SP substitution exon 1 VAR_035711 P07949:p.Val145Gly SP substitution exon 1 VAR_035712 P07949:p.Gly593Glu SP substitution exon 1 VAR_035713 Q01973:p.Glu562Asp SP substitution exon 1 VAR_035714 Q02763:p.Lys117Asn SP substitution exon 1 VAR_035715 Q96NW7:p.Leu235Met SP substitution exon 1 VAR_035716 P11310:p.Pro132Arg SP substitution exon 1 VAR_035717 Q9H0D2:p.Ser712Leu SP substitution exon 1 VAR_035718 Q8IYH5:p.Pro456Ser SP substitution exon 1 VAR_035719 O43257:p.Arg134Trp SP substitution exon 1 VAR_035720 Q9UHR6:p.Ala59Pro SP substitution exon 1 VAR_035721 Q9NWK9:p.Leu455His SP substitution exon 1 VAR_035722 Q00403:p.Arg132Gln SP substitution exon 1 VAR_035724 O95477:p.Glu210Asp SP substitution exon 1 VAR_035725 O95477:p.Asp917Tyr SP substitution exon 1 VAR_035726 O95477:p.Ala1407Thr SP substitution exon 1 VAR_035727 O95477:p.Ala2109Thr SP substitution exon 1 VAR_035728 Q99758:p.Leu290Met SP substitution exon 1 VAR_035729 Q99758:p.Glu801Asp SP substitution exon 1 VAR_035731 Q2M3G0:p.Glu230Val SP substitution exon 1 VAR_035732 Q9NP58:p.Arg69Gly SP substitution exon 1 VAR_035733 Q9NUT2:p.Ile165Thr SP substitution exon 1 VAR_035735 Q9NRK6:p.Arg471Thr SP substitution exon 1 VAR_035736 P78363:p.Thr224Met SP substitution exon 1 VAR_035737 P08183:p.Lys887Asn SP substitution exon 1 VAR_035738 P02461:p.Gly420Ser SP substitution exon 1 VAR_035739 P02461:p.Arg1434Cys SP substitution exon 1 VAR_035740 Q02388:p.Thr119Pro SP substitution exon 1 VAR_035741 Q02388:p.Pro1364Thr SP substitution exon 1 VAR_035742 Q02388:p.Arg1366Trp SP substitution exon 1 VAR_035743 P12107:p.Ala1326Val SP substitution exon 1 VAR_035744 P12107:p.Gln1328Lys SP substitution exon 1 VAR_035745 P12107:p.Gln1328Leu SP substitution exon 1 VAR_035746 Q14993:p.Gly361Asp SP substitution exon 1 VAR_035748 Q14031:p.Gly1130Glu SP substitution exon 1 VAR_035749 O43310:p.Val389Leu SP substitution exon 1 VAR_035750 O43310:p.Met438Ile SP substitution exon 1 VAR_035752 Q12889:p.Leu662His SP substitution exon 1 VAR_035753 P47898:p.Arg262Cys SP substitution exon 1 VAR_035754 P30542:p.Glu170Lys SP substitution exon 1 VAR_035755 P33765:p.Ala105Thr SP substitution exon 1 VAR_035756 P35348:p.Gly40Trp SP substitution exon 1 VAR_035757 P32302:p.Glu34Lys SP substitution exon 1 VAR_035758 P25101:p.Ile136Leu SP substitution exon 1 VAR_035759 Q9Y5Y3:p.Ser7Cys SP substitution exon 1 VAR_035760 Q9BY21:p.Asp191Tyr SP substitution exon 1 VAR_035761 P35367:p.Asp385Glu SP substitution exon 1 VAR_035762 Q9HBX8:p.Gly725Cys SP substitution exon 1 VAR_035763 Q9HBX8:p.Pro928His SP substitution exon 1 VAR_035764 P22888:p.Asp564Asn SP substitution exon 1 VAR_035765 P48145:p.Pro19Gln SP substitution exon 1 VAR_035766 P48146:p.Gly92Arg SP substitution exon 1 VAR_035767 Q15391:p.Leu140Pro SP substitution exon 1 VAR_035768 Q9UKP6:p.Ser146Arg SP substitution exon 1 VAR_035769 P30518:p.Arg247His SP substitution exon 1 VAR_035770 P22460:p.Gly300Ser SP substitution exon 1 VAR_035771 Q9UQ05:p.Gly797Arg SP substitution exon 1 VAR_035772 Q9NR82:p.Trp191Gly SP substitution exon 1 VAR_035773 Q9NR82:p.Arg244Cys SP substitution exon 1 VAR_035774 Q92953:p.Val450Ile SP substitution exon 1 VAR_035775 Q9UK17:p.Val94Met SP substitution exon 1 VAR_035776 O00400:p.Val400Ala SP substitution exon 1 VAR_035780 Q02952:p.Glu240Lys SP substitution exon 1 VAR_035781 Q13023:p.Lys910Met SP substitution exon 1 VAR_035782 Q13023:p.Met1192Ile SP substitution exon 1 VAR_035783 Q13023:p.Glu1702Gln SP substitution exon 1 VAR_035784 Q13023:p.Pro1839Thr SP substitution exon 1 VAR_035787 Q53TS8:p.Lys123Met SP substitution exon 1 VAR_035790 Q9UKV5:p.Asp605Val SP substitution exon 1 VAR_035791 Q6UX39:p.Gly78Ser SP substitution exon 1 VAR_035792 Q9UJX5:p.Ile155Val SP substitution exon 1 VAR_035793 Q9UJX4:p.Gln617His SP substitution exon 1 VAR_035794 P25054:p.Ile1254Phe SP substitution exon 1 VAR_035798 P56945:p.Ser407Thr SP substitution exon 1 VAR_035799 O75934:p.Asn139Ser SP substitution exon 1 VAR_035800 P50747:p.Glu42Asp SP substitution exon 1 VAR_035802 Q8IUE6:p.Ala53Thr SP substitution exon 1 VAR_035804 Q96EY9:p.Arg332Cys SP substitution exon 1 VAR_035805 P55265:p.Glu806Val SP substitution exon 1 VAR_035806 Q9NS39:p.Thr210Met SP substitution exon 1 VAR_035807 Q9NS39:p.Val512Ile SP substitution exon 1 VAR_035809 P82987:p.Val330Met SP substitution exon 1 VAR_035810 P82987:p.Arg587His SP substitution exon 1 VAR_035811 P82987:p.Arg855Cys SP substitution exon 1 VAR_035812 P82987:p.Ala1315Glu SP substitution exon 1 VAR_035813 P27918:p.Thr3Ile SP substitution exon 1 VAR_035814 P02743:p.Gly141Ser SP substitution exon 1 VAR_035815 Q969M1:p.Asp100Asn SP substitution exon 1 VAR_035816 P14859:p.Ser88Phe SP substitution exon 1 VAR_035817 P12259:p.Ser775Ala SP substitution exon 1 VAR_035818 Q5JTV8:p.Val190Ile SP substitution exon 1 VAR_035819 P24043:p.Pro1160Ala SP substitution exon 1 VAR_035820 Q13751:p.Arg450Cys SP substitution exon 1 VAR_035821 P11047:p.Arg1116His SP substitution exon 1 VAR_035822 Q12967:p.Arg496Leu SP substitution exon 1 VAR_035823 Q9NZL6:p.Tyr174Ser SP substitution exon 1 VAR_035824 Q9NZL6:p.Val699Met SP substitution exon 1 VAR_035825 P50749:p.Arg144His SP substitution exon 1 VAR_035826 P47712:p.His442Gln SP substitution exon 1 VAR_035827 Q9BXR6:p.Asn216Ser SP substitution exon 1 VAR_035828 P15529:p.Cys228Tyr SP substitution exon 1 VAR_035829 O60494:p.His786Gln SP substitution exon 1 VAR_035830 O60494:p.Ala2252Val SP substitution exon 1 VAR_035831 O60494:p.Ala2914Val SP substitution exon 1 VAR_035832 O60494:p.Ile3189Val SP substitution exon 1 VAR_035833 O14944:p.Gly42Ala SP substitution exon 1 VAR_035834 Q92832:p.Cys553Phe SP substitution exon 1 VAR_035835 P14543:p.Phe1036Ser SP substitution exon 1 VAR_035838 Q14240:p.Val181Leu SP substitution exon 1 VAR_035839 O00571:p.Arg294Thr SP substitution exon 1 VAR_035840 Q13206:p.Leu566Val SP substitution exon 1 VAR_035841 Q9NVP1:p.Gly41Arg SP substitution exon 1 VAR_035842 Q5T1V6:p.Pro77Thr SP substitution exon 1 VAR_035843 Q7L7V1:p.Pro209Arg SP substitution exon 1 VAR_035845 P28845:p.Val148Glu SP substitution exon 1 VAR_035847 Q9H813:p.Lys336Asn SP substitution exon 1 VAR_035848 P35240:p.Glu463Lys SP substitution exon 1 VAR_035849 Q15678:p.Gln159Glu SP substitution exon 1 VAR_035850 Q15678:p.His360Pro SP substitution exon 1 VAR_035851 Q9Y4F1:p.Arg714Leu SP substitution exon 1 VAR_035852 P09874:p.Glu488Val SP substitution exon 1 VAR_035853 Q8N3A8:p.Ser777Ala SP substitution exon 1 VAR_035854 Q8WUM0:p.Gly326Val SP substitution exon 1 VAR_035855 Q8WUM0:p.Gly448Arg SP substitution exon 1 VAR_035856 P35658:p.Gly424Ala SP substitution exon 1 VAR_035857 P35658:p.Pro1378Leu SP substitution exon 1 VAR_035858 P35658:p.Ala1392Val SP substitution exon 1 VAR_035860 Q8NCR0:p.Asn203Ser SP substitution exon 1 VAR_035861 P30260:p.Gly270Ala SP substitution exon 1 VAR_035862 Q3B7T1:p.Asn45Ser SP substitution exon 1 VAR_035863 Q3B7T1:p.Leu95Phe SP substitution exon 1 VAR_035865 Q8IYB4:p.Ala226Thr SP substitution exon 1 VAR_035866 Q8TE82:p.Arg719His SP substitution exon 1 VAR_035867 Q8TE82:p.Ala1130Thr SP substitution exon 1 VAR_035869 Q8WVT3:p.Glu717Gln SP substitution exon 1 VAR_035870 Q8IWX7:p.Asp496His SP substitution exon 1 VAR_035871 O15550:p.Leu1106Arg SP substitution exon 1 VAR_035872 Q14CX7:p.Ser789Arg SP substitution exon 1 VAR_035873 Q9UKF6:p.Asp578Asn SP substitution exon 1 VAR_035874 Q14693:p.Gly56Glu SP substitution exon 1 VAR_035875 Q96SB8:p.Ala292Val SP substitution exon 1 VAR_035876 Q9H6R7:p.Pro454Ser SP substitution exon 1 VAR_035877 Q9BR76:p.Val411Met SP substitution exon 1 VAR_035879 O95834:p.Val484Leu SP substitution exon 1 VAR_035880 Q969H0:p.Arg465His SP substitution exon 1 VAR_035881 Q969H0:p.Ser582Leu SP substitution exon 1 VAR_035882 Q9BYB4:p.Ala296Thr SP substitution exon 1 VAR_035883 P50851:p.Gln2038His SP substitution exon 1 VAR_035884 P50851:p.Gly2274Arg SP substitution exon 1 VAR_035885 P50851:p.Thr2701Lys SP substitution exon 1 VAR_035886 Q9NVX2:p.Gln319Lys SP substitution exon 1 VAR_035887 O43818:p.Arg8Gly SP substitution exon 1 VAR_035888 O43818:p.Ala342Glu SP substitution exon 1 VAR_035889 Q8IV35:p.Arg10His SP substitution exon 1 VAR_035890 Q7Z5U6:p.Ser60Cys SP substitution exon 1 VAR_035891 Q8N136:p.Thr129Met SP substitution exon 1 VAR_035892 Q6ZMY6:p.Asp166His SP substitution exon 1 VAR_035893 O75923:p.Ile1325Met SP substitution exon 1 VAR_035894 O75923:p.Leu1349Val SP substitution exon 1 VAR_035895 Q9HC10:p.Glu1323Lys SP substitution exon 1 VAR_035896 Q9HC10:p.Ile1547Val SP substitution exon 1 VAR_035897 P27708:p.Arg177Gln SP substitution exon 1 VAR_035898 P27708:p.Tyr735Cys SP substitution exon 1 VAR_035899 P47989:p.Leu763Phe SP substitution exon 1 VAR_035900 P47989:p.Arg791Gly SP substitution exon 1 VAR_035901 P62195:p.Arg60Gln SP substitution exon 1 VAR_035902 Q9UBP0:p.Val423Leu SP substitution exon 1 VAR_035903 Q8NBU5:p.Val107Ile SP substitution exon 1 VAR_035904 Q9NQC3:p.Leu429Val SP substitution exon 1 VAR_035905 Q9Y2E4:p.Ala586Glu SP substitution exon 1 VAR_035906 Q9Y2E4:p.Gly622Ser SP substitution exon 1 VAR_035907 Q9Y2E4:p.Val1264Met SP substitution exon 1 VAR_035908 Q9Y238:p.Pro351Arg SP substitution exon 1 VAR_035909 Q9UKG1:p.Glu643Gln SP substitution exon 1 VAR_035910 Q16643:p.Glu278Lys SP substitution exon 1 VAR_035912 O43281:p.Met361Ile SP substitution exon 1 VAR_035913 Q8NDI1:p.Arg395Thr SP substitution exon 1 VAR_035914 Q8IYF1:p.Arg498Gln SP substitution exon 1 VAR_035915 Q86X53:p.Leu365Phe SP substitution exon 1 VAR_035916 Q9NY74:p.Glu50Asp SP substitution exon 1 VAR_035917 O75369:p.Arg566Gln SP substitution exon 1 VAR_035918 O75369:p.Asn663Lys SP substitution exon 1 VAR_035919 O75369:p.Thr703Lys SP substitution exon 1 VAR_035920 O75369:p.Ala1534Gly SP substitution exon 1 VAR_035921 Q53EP0:p.Pro927Ser SP substitution exon 1 VAR_035922 P35575:p.Pro116Leu SP substitution exon 1 VAR_035923 Q9NS71:p.Lys118Thr SP substitution exon 1 VAR_035925 Q86V85:p.Thr32Asn SP substitution exon 1 VAR_035926 Q14687:p.Arg627Trp SP substitution exon 1 VAR_035927 O43593:p.Arg633Gln SP substitution exon 1 VAR_035928 Q969F9:p.Arg397Gln SP substitution exon 1 VAR_035929 P10745:p.Arg530His SP substitution exon 1 VAR_035930 Q96AA8:p.Arg315Cys SP substitution exon 1 VAR_035931 Q86UP2:p.Pro226Arg SP substitution exon 1 VAR_035932 Q86UP2:p.Thr1316Pro SP substitution exon 1 VAR_035933 Q86UK5:p.Ala630Ser SP substitution exon 1 VAR_035935 Q9UJU2:p.Gly113Arg SP substitution exon 1 VAR_035936 Q96RK0:p.Glu104Lys SP substitution exon 1 VAR_035937 Q96RK0:p.Ala652Thr SP substitution exon 1 VAR_035938 Q9HCS4:p.Thr147Asn SP substitution exon 1 VAR_035939 Q9NQB0:p.Arg465Cys SP substitution exon 1 VAR_035940 Q9Y4C1:p.Asp187His SP substitution exon 1 VAR_035941 Q8WW24:p.Cys272Ser SP substitution exon 1 VAR_035942 P19447:p.Lys418Gln SP substitution exon 1 VAR_035943 O75643:p.Phe1736Leu SP substitution exon 1 VAR_035946 Q6P4Q7:p.Val134Leu SP substitution exon 1 VAR_035947 P38398:p.Leu30Phe SP substitution exon 1 VAR_035948 P38398:p.Leu758Phe SP substitution exon 1 VAR_035949 P38398:p.Gly778Cys SP substitution exon 1 VAR_035950 Q9P253:p.Ala913Ser SP substitution exon 1 VAR_035952 Q76G19:p.Arg39Cys SP substitution exon 1 VAR_035953 Q1L5Z9:p.Arg562Trp SP substitution exon 1 VAR_035954 Q496Y0:p.Ala122Gly SP substitution exon 1 VAR_035955 Q13064:p.Thr145Met SP substitution exon 1 VAR_035956 Q13064:p.Ser239Thr SP substitution exon 1 VAR_035958 Q8NC42:p.Glu7Lys SP substitution exon 1 VAR_035959 Q8N6D2:p.Val43Ala SP substitution exon 1 VAR_035960 Q8N6D2:p.Pro58Leu SP substitution exon 1 VAR_035961 Q96PU4:p.Ile87Asn SP substitution exon 1 VAR_035962 Q14134:p.Ser514Phe SP substitution exon 1 VAR_035963 Q8N9V2:p.Asp21His SP substitution exon 1 VAR_035964 Q9UBY0:p.Thr299Ser SP substitution exon 1 VAR_035965 Q9UBY0:p.Arg806Gln SP substitution exon 1 VAR_035966 Q8NBP5:p.Gly59Ala SP substitution exon 1 VAR_035967 Q8NBP5:p.Val84Ala SP substitution exon 1 VAR_035968 Q6ZMD2:p.Ala507Thr SP substitution exon 1 VAR_035969 Q92888:p.Met165Val SP substitution exon 1 VAR_035970 Q9NR80:p.Lys100Arg SP substitution exon 1 VAR_035971 Q9NR80:p.Thr441Arg SP substitution exon 1 VAR_035972 Q7Z628:p.Asp202Asn SP substitution exon 1 VAR_035973 Q70Z35:p.Val537Ile SP substitution exon 1 VAR_035974 Q70Z35:p.Ala1571Glu SP substitution exon 1 VAR_035975 Q9H8V3:p.Thr833Pro SP substitution exon 1 VAR_035976 O60229:p.Arg213Trp SP substitution exon 1 VAR_035977 Q13009:p.Arg678Cys SP substitution exon 1 VAR_035978 Q13009:p.Ala1339Val SP substitution exon 1 VAR_035979 Q8N2U9:p.Gly175Ala SP substitution exon 1 VAR_035980 Q86XR5:p.Ala22Val SP substitution exon 1 VAR_035981 P07225:p.Glu545Gly SP substitution exon 1 VAR_035982 Q6NZI2:p.Pro14Thr SP substitution exon 1 VAR_035983 Q5UIP0:p.Glu1784Lys SP substitution exon 1 VAR_035984 Q5UIP0:p.Asp1955His SP substitution exon 1 VAR_035985 Q96T51:p.Cys267Phe SP substitution exon 1 VAR_035986 Q9NZJ4:p.Met1795Ile SP substitution exon 1 VAR_035987 Q9Y6X0:p.Arg1162Trp SP substitution exon 1 VAR_035988 Q9NVD3:p.Glu420Gly SP substitution exon 1 VAR_035989 Q9BRG2:p.Glu265Gly SP substitution exon 1 VAR_035990 Q8NHY0:p.Pro459His SP substitution exon 1 VAR_035991 Q7Z7M9:p.Glu507Asp SP substitution exon 1 VAR_035992 Q7Z7M9:p.Leu692Phe SP substitution exon 1 VAR_035993 Q8WYN3:p.Pro474Leu SP substitution exon 1 VAR_035994 Q07954:p.Glu869Lys SP substitution exon 1 VAR_035995 Q07954:p.Arg3760His SP substitution exon 1 VAR_035996 P98164:p.Met4272Val SP substitution exon 1 VAR_035997 O14929:p.Ala317Pro SP substitution exon 1 VAR_035999 P15336:p.Asp352His SP substitution exon 1 VAR_036000 P35638:p.Ala115Val SP substitution exon 1 VAR_036001 P42224:p.Pro491Ala SP substitution exon 1 VAR_036002 Q14765:p.Glu112Gln SP substitution exon 1 VAR_036003 P12882:p.Ser1306Leu SP substitution exon 1 VAR_036004 P12882:p.Ala1445Thr SP substitution exon 1 VAR_036005 P12882:p.Val1598Met SP substitution exon 1 VAR_036006 P35579:p.Lys810Asn SP substitution exon 1 VAR_036007 O43795:p.Val385Gly SP substitution exon 1 VAR_036008 O43795:p.Val385Ile SP substitution exon 1 VAR_036009 Q70E73:p.Ala891Ser SP substitution exon 1 VAR_036010 Q70E73:p.Thr1228Ala SP substitution exon 1 VAR_036011 P16870:p.Arg297Gln SP substitution exon 1 VAR_036012 Q8IVL8:p.Lys273Asn SP substitution exon 1 VAR_036013 O75874:p.Arg132Cys SP substitution exon 1 VAR_036014 P11137:p.Glu277Asp SP substitution exon 1 VAR_036015 P11137:p.Pro705Leu SP substitution exon 1 VAR_036016 P46821:p.Arg326Gln SP substitution exon 1 VAR_036017 P46821:p.Val574Met SP substitution exon 1 VAR_036021 Q03468:p.Pro591Ala SP substitution exon 1 VAR_036022 Q03468:p.Arg652Leu SP substitution exon 1 VAR_036026 Q9NZC9:p.Leu432Val SP substitution exon 1 VAR_036027 P07093:p.Lys204Asn SP substitution exon 1 VAR_036028 Q9GZY8:p.Glu29Lys SP substitution exon 1 VAR_036029 Q9HB58:p.Met8Thr SP substitution exon 1 VAR_036030 Q9HB58:p.Gly683Ser SP substitution exon 1 VAR_036031 Q07001:p.Asp398Glu SP substitution exon 1 VAR_036033 Q16445:p.Pro180His SP substitution exon 1 VAR_036034 O00591:p.His416Arg SP substitution exon 1 VAR_036035 O60656:p.Ser442Ile SP substitution exon 1 VAR_036036 Q3SY77:p.Arg515His SP substitution exon 1 VAR_036037 Q32MZ4:p.Ser68Cys SP substitution exon 1 VAR_036038 O15534:p.Glu696Gln SP substitution exon 1 VAR_036039 O15534:p.Asn985Ser SP substitution exon 1 VAR_036040 O15534:p.Ser1060Leu SP substitution exon 1 VAR_036041 O15055:p.Leu823Val SP substitution exon 1 VAR_036042 P56524:p.Pro727Arg SP substitution exon 1 VAR_036044 P35052:p.Ala337Asp SP substitution exon 1 VAR_036045 Q8N158:p.Asp200Asn SP substitution exon 1 VAR_036046 Q9HAU8:p.Val247Met SP substitution exon 1 VAR_036047 Q07075:p.Arg887Thr SP substitution exon 1 VAR_036048 Q9Y6Q1:p.Gly358Arg SP substitution exon 1 VAR_036049 Q9HC96:p.Glu276Gly SP substitution exon 1 VAR_036050 P51114:p.Ala233Thr SP substitution exon 1 VAR_036051 Q96PU8:p.Arg336Gln SP substitution exon 1 VAR_036052 Q00341:p.Lys568Asn SP substitution exon 1 VAR_036053 Q00341:p.Asp939Val SP substitution exon 1 VAR_036054 Q9Y4R7:p.Gly454Ser SP substitution exon 1 VAR_036055 Q9Y4R7:p.Met476Ile SP substitution exon 1 VAR_036056 Q5VUA4:p.Asn812Ser SP substitution exon 1 VAR_036057 Q5VUA4:p.Gly1274Arg SP substitution exon 1 VAR_036058 Q9H6B1:p.Ala386Thr SP substitution exon 1 VAR_036059 Q9H6B1:p.His387Gln SP substitution exon 1 VAR_036060 P10826:p.Val90Ile SP substitution exon 1 VAR_036061 P13631:p.Gly430Ser SP substitution exon 1 VAR_036062 P35398:p.Pro18Ser SP substitution exon 1 VAR_036064 Q9NWU1:p.Phe106Ile SP substitution exon 1 VAR_036065 O43435:p.Gly337Glu SP substitution exon 1 VAR_036066 Q9Y458:p.Val16Ala SP substitution exon 1 VAR_036067 Q9Y458:p.Ala51Thr SP substitution exon 1 VAR_036068 Q9Y458:p.Asp307Asn SP substitution exon 1 VAR_036070 P37173:p.Ile73Val SP substitution exon 1 VAR_036071 Q9UKC9:p.Val226Met SP substitution exon 1 VAR_036072 Q8TB52:p.Ser8Cys SP substitution exon 1 VAR_036073 Q13797:p.Arg750Cys SP substitution exon 1 VAR_036074 O43157:p.Asp1891Val SP substitution exon 1 VAR_036075 Q16877:p.Asn181Lys SP substitution exon 1 VAR_036076 Q03154:p.Glu381Asp SP substitution exon 1 VAR_036077 Q9NR96:p.Arg901His SP substitution exon 1 VAR_036078 Q9NR96:p.Thr933Met SP substitution exon 1 VAR_036079 Q13609:p.Leu19Val SP substitution exon 1 VAR_036080 Q13609:p.Gly82Arg SP substitution exon 1 VAR_036081 Q13609:p.Tyr117Ser SP substitution exon 1 VAR_036082 Q8NFY9:p.Ser198Cys SP substitution exon 1 VAR_036083 Q8NFY9:p.Arg405Lys SP substitution exon 1 VAR_036084 Q14145:p.Cys23Tyr SP substitution exon 1 VAR_036085 Q14145:p.Ala522Val SP substitution exon 1 VAR_036086 P29320:p.Thr37Lys SP substitution exon 1 VAR_036087 P29320:p.Asn85Ser SP substitution exon 1 VAR_036088 P29320:p.Ile621Leu SP substitution exon 1 VAR_036089 P29320:p.Asp806Asn SP substitution exon 1 VAR_036090 Q15375:p.Arg371Trp SP substitution exon 1 VAR_036091 O15197:p.Asp360Asn SP substitution exon 1 VAR_036092 O15197:p.Ala603Pro SP substitution exon 1 VAR_036093 O15197:p.Arg719Gln SP substitution exon 1 VAR_036095 Q9NV64:p.Ser247Leu SP substitution exon 1 VAR_036096 Q14789:p.Gln348His SP substitution exon 1 VAR_036097 Q14789:p.Ala944Gly SP substitution exon 1 VAR_036098 Q8TDB6:p.Lys209Asn SP substitution exon 1 VAR_036099 P22059:p.Asp278Ala SP substitution exon 1 VAR_036100 Q9BXB4:p.Ser184Leu SP substitution exon 1 VAR_036101 O75891:p.Ala511Val SP substitution exon 1 VAR_036102 Q9Y6N8:p.Val371Leu SP substitution exon 1 VAR_036103 Q9HBT6:p.Met228Ile SP substitution exon 1 VAR_036104 Q9HBT6:p.Pro416Thr SP substitution exon 1 VAR_036105 Q9HBT6:p.Gln746His SP substitution exon 1 VAR_036106 Q9Y5E8:p.Ala719Val SP substitution exon 1 VAR_036107 Q9Y5E8:p.Gly758Val SP substitution exon 1 VAR_036108 O95206:p.Lys956Asn SP substitution exon 1 VAR_036109 Q9BZA7:p.Asp42Gly SP substitution exon 1 VAR_036110 Q96JQ0:p.Arg1583Trp SP substitution exon 1 VAR_036112 Q9H4D0:p.Ser193Ile SP substitution exon 1 VAR_036114 Q9BQT9:p.His874Tyr SP substitution exon 1 VAR_036115 Q8IWA4:p.Asp415His SP substitution exon 1 VAR_036116 Q92997:p.Arg216Thr SP substitution exon 1 VAR_036117 Q04637:p.Pro696Leu SP substitution exon 1 VAR_036118 Q6UXB0:p.Ser260Asn SP substitution exon 1 VAR_036119 P49619:p.Glu706Lys SP substitution exon 1 VAR_036120 P52429:p.Leu99Arg SP substitution exon 1 VAR_036121 P35249:p.Thr354Ser SP substitution exon 1 VAR_036122 P59025:p.Arg124Ser SP substitution exon 1 VAR_036123 Q8IVL5:p.Asp613Asn SP substitution exon 1 VAR_036124 Q8NFC6:p.Ser246Ile SP substitution exon 1 VAR_036125 Q9BPX3:p.Met265Thr SP substitution exon 1 VAR_036126 P35968:p.Arg275Leu SP substitution exon 1 VAR_036127 P35968:p.Gly873Arg SP substitution exon 1 VAR_036128 Q9UN86:p.Pro434Leu SP substitution exon 1 VAR_036129 Q92903:p.Lys204Thr SP substitution exon 1 VAR_036130 P51825:p.Gln1204Lys SP substitution exon 1 VAR_036131 O95803:p.His264Gln SP substitution exon 1 VAR_036132 Q13480:p.Tyr83Cys SP substitution exon 1 VAR_036133 Q13480:p.Thr387Asn SP substitution exon 1 VAR_036135 Q8N475:p.Leu92Ile SP substitution exon 1 VAR_036136 P08253:p.Ala228Thr SP substitution exon 1 VAR_036137 P08253:p.Thr498Met SP substitution exon 1 VAR_036139 P09238:p.Glu142Gln SP substitution exon 1 VAR_036140 P24347:p.Asp166Asn SP substitution exon 1 VAR_036141 P13497:p.Asp45His SP substitution exon 1 VAR_036142 O43897:p.Leu688Val SP substitution exon 1 VAR_036143 O43184:p.Asp301His SP substitution exon 1 VAR_036144 O43184:p.Gly479Glu SP substitution exon 1 VAR_036145 O43184:p.Leu792Phe SP substitution exon 1 VAR_036146 Q9H013:p.Arg133Gln SP substitution exon 1 VAR_036147 Q9H013:p.Ala298Thr SP substitution exon 1 VAR_036148 Q9UKF5:p.Pro31Leu SP substitution exon 1 VAR_036149 Q9UKF5:p.Val205Ile SP substitution exon 1 VAR_036150 Q8TE58:p.Gln770Arg SP substitution exon 1 VAR_036151 Q8TE58:p.Cys878Gly SP substitution exon 1 VAR_036152 Q8TE60:p.Arg382Lys SP substitution exon 1 VAR_036153 Q8TE60:p.Lys455Thr SP substitution exon 1 VAR_036154 Q8TE59:p.Leu360Ile SP substitution exon 1 VAR_036155 Q9Y6D6:p.Gly316Glu SP substitution exon 1 VAR_036156 Q9Y6D5:p.Lys794Glu SP substitution exon 1 VAR_036157 Q9NRD0:p.Leu269Ile SP substitution exon 1 VAR_036158 Q01959:p.Gly121Ser SP substitution exon 1 VAR_036159 Q01959:p.Arg544Ser SP substitution exon 1 VAR_036161 Q14CZ7:p.Leu22Val SP substitution exon 1 VAR_036163 Q5F1R6:p.Asp214Asn SP substitution exon 1 VAR_036164 Q6KC79:p.Glu1647Lys SP substitution exon 1 VAR_036165 P40189:p.Thr415Ile SP substitution exon 1 VAR_036166 P42702:p.Phe1068Leu SP substitution exon 1 VAR_036167 Q9H3R5:p.Glu2Lys SP substitution exon 1 VAR_036168 P10915:p.Arg333His SP substitution exon 1 VAR_036169 Q92187:p.Glu92Gly SP substitution exon 1 VAR_036170 Q16878:p.Glu143Gln SP substitution exon 1 VAR_036171 Q8N427:p.Ile289Thr SP substitution exon 1 VAR_036172 Q96J42:p.Ser248Pro SP substitution exon 1 VAR_036173 O15239:p.Arg53Cys SP substitution exon 1 VAR_036174 O43678:p.Asp50Asn SP substitution exon 1 VAR_036175 O95167:p.Asn62Asp SP substitution exon 1 VAR_036176 P51970:p.Asn140His SP substitution exon 1 VAR_036177 Q9NP61:p.Glu290Gly SP substitution exon 1 VAR_036178 Q15027:p.Lys114Arg SP substitution exon 1 VAR_036179 Q15027:p.Arg129Gln SP substitution exon 1 VAR_036180 Q8WWN8:p.Arg471Trp SP substitution exon 1 VAR_036181 Q8WWN8:p.Ile1085Met SP substitution exon 1 VAR_036185 Q96PL1:p.Lys33Asn SP substitution exon 1 VAR_036186 P52790:p.Arg480Trp SP substitution exon 1 VAR_036191 Q8TDZ2:p.Leu309Met SP substitution exon 1 VAR_036192 Q8N3F8:p.Glu817Lys SP substitution exon 1 VAR_036194 Q13255:p.Arg696Trp SP substitution exon 1 VAR_036195 O15303:p.Ser191Phe SP substitution exon 1 VAR_036196 Q66K14:p.Pro1086Gln SP substitution exon 1 VAR_036197 Q13885:p.Arg62Trp SP substitution exon 1 VAR_036198 P58166:p.Arg62Thr SP substitution exon 1 VAR_036199 P58166:p.Gln215His SP substitution exon 1 VAR_036200 P22004:p.Ala343Asp SP substitution exon 1 VAR_036201 P22004:p.Pro476Leu SP substitution exon 1 VAR_036202 Q96S42:p.Glu279Lys SP substitution exon 1 VAR_036203 P10412:p.Ala128Val SP substitution exon 1 VAR_036204 P16401:p.Gly86Asp SP substitution exon 1 VAR_036205 Q99879:p.His110Tyr SP substitution exon 1 VAR_036206 P62805:p.Glu64Gln SP substitution exon 1 VAR_036207 P47887:p.His168Asp SP substitution exon 1 VAR_036208 Q8NGS0:p.Thr190Asn SP substitution exon 1 VAR_036213 Q96JB1:p.Thr2226Met SP substitution exon 1 VAR_036214 Q9NYC9:p.Arg771Leu SP substitution exon 1 VAR_036215 Q9NYC9:p.Asp2653His SP substitution exon 1 VAR_036216 Q9NYC9:p.Thr3664Asn SP substitution exon 1 VAR_036217 Q6ZMV9:p.Ala386Glu SP substitution exon 1 VAR_036218 Q96L93:p.Lys772Thr SP substitution exon 1 VAR_036219 Q8IVH2:p.Ala464Thr SP substitution exon 1 VAR_036220 Q9Y253:p.Gly153Asp SP substitution exon 1 VAR_036221 Q99808:p.Ala293Thr SP substitution exon 1 VAR_036222 Q99808:p.Ile455Val SP substitution exon 1 VAR_036223 Q02643:p.Ala45Thr SP substitution exon 1 VAR_036224 Q8IZF3:p.Ser674Leu SP substitution exon 1 VAR_036225 Q6T4R5:p.Ala844Thr SP substitution exon 1 VAR_036226 Q13951:p.Pro100Ala SP substitution exon 1 VAR_036227 Q8WYR1:p.Arg28Cys SP substitution exon 1 VAR_036228 P08F94:p.Arg19His SP substitution exon 1 VAR_036229 P08F94:p.Arg1081Cys SP substitution exon 1 VAR_036230 P08F94:p.Leu1096Arg SP substitution exon 1 VAR_036231 P08F94:p.Glu1806Lys SP substitution exon 1 VAR_036232 Q99575:p.Glu675Gln SP substitution exon 1 VAR_036233 Q8NEY8:p.Val173Met SP substitution exon 1 VAR_036234 Q6UXV0:p.Asp195His SP substitution exon 1 VAR_036235 P20742:p.Arg1128His SP substitution exon 1 VAR_036236 Q6YHK3:p.Gln1007Glu SP substitution exon 1 VAR_036237 Q6YHK3:p.Asn1065Lys SP substitution exon 1 VAR_036238 Q8WWQ0:p.Val469Ile SP substitution exon 1 VAR_036239 Q8WWQ0:p.Arg1767Ile SP substitution exon 1 VAR_036240 Q7L1T6:p.Asp371Tyr SP substitution exon 1 VAR_036241 Q7L1T6:p.Leu390Met SP substitution exon 1 VAR_036242 Q5SRI9:p.Tyr331Cys SP substitution exon 1 VAR_036243 Q9H1Y0:p.Lys58Met SP substitution exon 1 VAR_036245 O15131:p.Phe45Leu SP substitution exon 1 VAR_036246 O15131:p.Arg316Ser SP substitution exon 1 VAR_036247 Q5SZL2:p.Ser345Phe SP substitution exon 1 VAR_036248 O95677:p.Leu152Arg SP substitution exon 1 VAR_036249 O95677:p.Asp301Asn SP substitution exon 1 VAR_036250 Q8NF91:p.Val3671Met SP substitution exon 1 VAR_036251 Q8NF91:p.Glu4210Asp SP substitution exon 1 VAR_036252 Q8NF91:p.Arg4223His SP substitution exon 1 VAR_036253 Q8NF91:p.Leu5507Arg SP substitution exon 1 VAR_036254 Q8NF91:p.Arg8468His SP substitution exon 1 VAR_036255 Q8WXH0:p.Val5940Ile SP substitution exon 1 VAR_036256 Q8WXH0:p.Tyr6200Cys SP substitution exon 1 VAR_036257 Q8NFD5:p.Gly814Ala SP substitution exon 1 VAR_036258 P17987:p.Val7Leu SP substitution exon 1 VAR_036259 Q9Y5X2:p.Ala147Gly SP substitution exon 1 VAR_036260 Q9NPG8:p.Pro104Ser SP substitution exon 1 VAR_036261 Q9NXF8:p.Asp44Asn SP substitution exon 1 VAR_036262 Q14956:p.Ala110Asp SP substitution exon 1 VAR_036263 Q14956:p.Ser531Ile SP substitution exon 1 VAR_036264 O43365:p.Asp42Asn SP substitution exon 1 VAR_036265 O43365:p.Ala131Thr SP substitution exon 1 VAR_036266 Q00056:p.Gly37Asp SP substitution exon 1 VAR_036267 P31274:p.Gly87Ser SP substitution exon 1 VAR_036268 O14668:p.Phe60Ile SP substitution exon 1 VAR_036269 Q9ULW0:p.Thr464Asn SP substitution exon 1 VAR_036270 Q9Y2L5:p.Arg537Gln SP substitution exon 1 VAR_036271 Q8WU66:p.Ala166Thr SP substitution exon 1 VAR_036272 Q9UJT2:p.Gly19Arg SP substitution exon 1 VAR_036273 Q8TAP9:p.Gly29Glu SP substitution exon 1 VAR_036274 O75691:p.Lys1645Ile SP substitution exon 1 VAR_036275 O75691:p.Ile2452Phe SP substitution exon 1 VAR_036276 P04275:p.Tyr1570Cys SP substitution exon 1 VAR_036278 P25787:p.Leu110Val SP substitution exon 1 VAR_036279 P17936:p.Thr7Met SP substitution exon 1 VAR_036280 P17936:p.Arg252Cys SP substitution exon 1 VAR_036281 P04424:p.Thr181Ser SP substitution exon 1 VAR_036282 P04424:p.Gly200Val SP substitution exon 1 VAR_036283 Q14563:p.Ala131Thr SP substitution exon 1 VAR_036284 Q9Y3Q8:p.Val329Met SP substitution exon 1 VAR_036285 Q13948:p.Ser490Gly SP substitution exon 1 VAR_036286 Q13948:p.Arg609Cys SP substitution exon 1 VAR_036287 Q16821:p.Gly554Ala SP substitution exon 1 VAR_036288 Q93098:p.Glu53Gln SP substitution exon 1 VAR_036289 Q9UBV4:p.Val126Met SP substitution exon 1 VAR_036290 Q15459:p.Arg511Trp SP substitution exon 1 VAR_036291 Q8NA54:p.Arg735His SP substitution exon 1 VAR_036292 Q96A65:p.Ser220Phe SP substitution exon 1 VAR_036294 P24557:p.Arg85Trp SP substitution exon 1 VAR_036295 Q9UNI1:p.Gly76Ala SP substitution exon 1 VAR_036296 Q8IU80:p.Arg223His SP substitution exon 1 VAR_036297 Q8IU80:p.Arg234Ser SP substitution exon 1 VAR_036298 Q9H2R5:p.Ala137Thr SP substitution exon 1 VAR_036299 P07477:p.Thr137Met SP substitution exon 1 VAR_036300 P35523:p.Glu548Lys SP substitution exon 1 VAR_036301 Q8WWP7:p.Val166Glu SP substitution exon 1 VAR_036303 P29474:p.Arg474Cys SP substitution exon 1 VAR_036304 P29474:p.Arg602Gln SP substitution exon 1 VAR_036305 P01116:p.Gly12Ala SP substitution exon 1 VAR_036306 P01116:p.Gln61Arg SP substitution exon 1 VAR_036307 P01116:p.Lys117Asn SP substitution exon 1 VAR_036308 P01116:p.Ala146Thr SP substitution exon 1 VAR_036309 Q96S79:p.Val52Met SP substitution exon 1 VAR_036310 Q15382:p.Glu139Lys SP substitution exon 1 VAR_036311 Q8NEZ4:p.Cys347Gly SP substitution exon 1 VAR_036312 Q8NEZ4:p.Asp400Asn SP substitution exon 1 VAR_036313 Q8NEZ4:p.Leu478Trp SP substitution exon 1 VAR_036314 Q8NEZ4:p.Thr3698Ser SP substitution exon 1 VAR_036315 P12838:p.Arg74Gln SP substitution exon 1 VAR_036317 Q9UJV8:p.Lys316Thr SP substitution exon 1 VAR_036318 Q14191:p.Gly92Val SP substitution exon 1 VAR_036319 Q8TC76:p.Ala214Ser SP substitution exon 1 VAR_036320 P15090:p.Glu23Asp SP substitution exon 1 VAR_036321 Q06455:p.Arg386Trp SP substitution exon 1 VAR_036322 Q06455:p.Arg395Trp SP substitution exon 1 VAR_036323 Q06455:p.Ala471Val SP substitution exon 1 VAR_036324 Q96RL7:p.Arg161His SP substitution exon 1 VAR_036325 Q7Z7G8:p.Leu3001Val SP substitution exon 1 VAR_036326 Q9ULJ6:p.Leu551Val SP substitution exon 1 VAR_036327 Q96MF7:p.Leu27Phe SP substitution exon 1 VAR_036328 P40145:p.Phe881Leu SP substitution exon 1 VAR_036330 P01574:p.Trp164Cys SP substitution exon 1 VAR_036331 Q5VZB9:p.Arg342Cys SP substitution exon 1 VAR_036332 Q8TEQ8:p.Leu686Met SP substitution exon 1 VAR_036333 Q9H1U9:p.Thr205Met SP substitution exon 1 VAR_036334 O75072:p.Asp225Glu SP substitution exon 1 VAR_036335 O75072:p.Asp225Asn SP substitution exon 1 VAR_036336 O60477:p.Pro712Thr SP substitution exon 1 VAR_036337 P06396:p.Ser22Leu SP substitution exon 1 VAR_036338 P06396:p.Thr201Ile SP substitution exon 1 VAR_036339 P06396:p.Ser611Asn SP substitution exon 1 VAR_036340 Q15526:p.Asn89Lys SP substitution exon 1 VAR_036341 O00602:p.Tyr175Cys SP substitution exon 1 VAR_036342 Q15485:p.Pro80Leu SP substitution exon 1 VAR_036343 O43805:p.Lys17Asn SP substitution exon 1 VAR_036345 Q9H9B1:p.Ala43Val SP substitution exon 1 VAR_036346 Q9H9B1:p.Tyr1173Phe SP substitution exon 1 VAR_036347 Q0VDF9:p.Ala85Val SP substitution exon 1 VAR_036348 Q92783:p.Gly212Asp SP substitution exon 1 VAR_036349 Q02641:p.Pro339Leu SP substitution exon 1 VAR_036350 Q08289:p.Ala99Gly SP substitution exon 1 VAR_036352 O75554:p.Lys113Arg SP substitution exon 1 VAR_036353 P11532:p.Leu334Phe SP substitution exon 1 VAR_036354 P11532:p.Glu1219Gln SP substitution exon 1 VAR_036355 P11532:p.Arg1470His SP substitution exon 1 VAR_036356 P11532:p.Ala2164Val SP substitution exon 1 VAR_036357 O60828:p.Arg224Trp SP substitution exon 1 VAR_036358 Q15181:p.Lys57Asn SP substitution exon 1 VAR_036359 Q504Q3:p.Ala1201Val SP substitution exon 1 VAR_036360 Q70EL1:p.Leu505Val SP substitution exon 1 VAR_036361 Q8WYB5:p.Thr483Ala SP substitution exon 1 VAR_036362 Q9H8L6:p.Val448Met SP substitution exon 1 VAR_036363 Q9NTM9:p.Pro77Leu SP substitution exon 1 VAR_036364 Q9BRK4:p.Arg121His SP substitution exon 1 VAR_036365 Q9BRK4:p.Gly291Arg SP substitution exon 1 VAR_036366 Q86U70:p.Arg299Gln SP substitution exon 1 VAR_036367 P35900:p.Ser4Arg SP substitution exon 1 VAR_036368 Q01546:p.Leu168Val SP substitution exon 1 VAR_036369 Q16352:p.Glu110Gln SP substitution exon 1 VAR_036370 Q03252:p.Arg216Trp SP substitution exon 1 VAR_036371 Q92673:p.Leu120Ser SP substitution exon 1 VAR_036372 Q92673:p.Met1581Leu SP substitution exon 1 VAR_036373 Q92673:p.Leu1972Val SP substitution exon 1 VAR_036374 Q8WY21:p.Lys223Asn SP substitution exon 1 VAR_036375 Q53EL6:p.Gly120Arg SP substitution exon 1 VAR_036376 O60488:p.Arg133Cys SP substitution exon 1 VAR_036377 Q9ULC5:p.Lys388Arg SP substitution exon 1 VAR_036378 Q9ULC5:p.Gly466Asp SP substitution exon 1 VAR_036379 P54315:p.Ser129Cys SP substitution exon 1 VAR_036380 P21802:p.Arg203Cys SP substitution exon 1 VAR_036381 O95359:p.Leu798Val SP substitution exon 1 VAR_036382 O95359:p.Ala1347Ser SP substitution exon 1 VAR_036383 Q86W28:p.Pro126Arg SP substitution exon 1 VAR_036384 Q86W28:p.Glu375Val SP substitution exon 1 VAR_036385 Q86W28:p.Gln1045Leu SP substitution exon 1 VAR_036386 Q7RTR0:p.Gly425Asp SP substitution exon 1 VAR_036387 Q86W24:p.Ser779Cys SP substitution exon 1 VAR_036388 Q86WI3:p.Met361Ile SP substitution exon 1 VAR_036389 Q9BQG1:p.Ser474Phe SP substitution exon 1 VAR_036390 Q86SS6:p.Asp445Asn SP substitution exon 1 VAR_036391 Q7Z5B4:p.Gly346Val SP substitution exon 1 VAR_036392 P15172:p.Glu262Lys SP substitution exon 1 VAR_036393 P15172:p.Ala309Val SP substitution exon 1 VAR_036394 Q12772:p.Ala273Ser SP substitution exon 1 VAR_036395 Q12772:p.Asn347Lys SP substitution exon 1 VAR_036396 P15923:p.Ala8Val SP substitution exon 1 VAR_036397 Q6P3W2:p.Asn22Asp SP substitution exon 1 VAR_036398 Q04609:p.Ala23Thr SP substitution exon 1 VAR_036399 Q9HCU0:p.Leu6Phe SP substitution exon 1 VAR_036400 Q9NPY3:p.Ala220Val SP substitution exon 1 VAR_036401 P13727:p.Arg179Cys SP substitution exon 1 VAR_036402 Q9H3V2:p.Leu123Arg SP substitution exon 1 VAR_036403 Q8IVM8:p.Ala393Val SP substitution exon 1 VAR_036404 Q8IVM8:p.Met487Val SP substitution exon 1 VAR_036405 Q8IVM8:p.Asn521Lys SP substitution exon 1 VAR_036406 P30044:p.Phe157Leu SP substitution exon 1 VAR_036408 P14207:p.His236Asn SP substitution exon 1 VAR_036409 P46721:p.Val220Ile SP substitution exon 1 VAR_036410 Q9NPD5:p.Ile292Met SP substitution exon 1 VAR_036411 Q9NPD5:p.Met647Leu SP substitution exon 1 VAR_036412 O94956:p.Glu77Lys SP substitution exon 1 VAR_036413 Q9ULV1:p.Lys436Thr SP substitution exon 1 VAR_036414 P51148:p.Arg40His SP substitution exon 1 VAR_036415 P57729:p.Lys111Thr SP substitution exon 1 VAR_036416 P49959:p.Phe237Cys SP substitution exon 1 VAR_036417 P49959:p.His302Tyr SP substitution exon 1 VAR_036418 Q9GZP0:p.Asp202Tyr SP substitution exon 1 VAR_036419 P51841:p.Arg10Pro SP substitution exon 1 VAR_036420 P33402:p.Glu681Val SP substitution exon 1 VAR_036421 P33402:p.Asn685Thr SP substitution exon 1 VAR_036422 Q9H3H5:p.Met9Ile SP substitution exon 1 VAR_036423 O75443:p.Arg284His SP substitution exon 1 VAR_036424 O75443:p.Ile771Asn SP substitution exon 1 VAR_036425 O75443:p.Asn813Thr SP substitution exon 1 VAR_036426 P48048:p.Ser115Phe SP substitution exon 1 VAR_036427 Q99712:p.Ala71Thr SP substitution exon 1 VAR_036428 O75969:p.Arg831Cys SP substitution exon 1 VAR_036429 Q15773:p.Phe80Cys SP substitution exon 1 VAR_036430 Q13361:p.Val61Asp SP substitution exon 1 VAR_036431 Q96A72:p.Glu119Lys SP substitution exon 1 VAR_036432 Q9NYV9:p.Asn149Ser SP substitution exon 1 VAR_036433 P12272:p.Ser169Thr SP substitution exon 1 VAR_036434 P49281:p.Ala48Thr SP substitution exon 1 VAR_036435 Q9UNS1:p.Ala429Asp SP substitution exon 1 VAR_036436 Q9UNS1:p.Gln1008Glu SP substitution exon 1 VAR_036437 Q02878:p.Lys100Gln SP substitution exon 1 VAR_036438 O43186:p.Ser141Phe SP substitution exon 1 VAR_036439 Q9BYU1:p.Thr283Met SP substitution exon 1 VAR_036440 P55347:p.Val265Ile SP substitution exon 1 VAR_036441 Q9UIU6:p.Glu23Gln SP substitution exon 1 VAR_036442 Q9UIU6:p.Gly446Asp SP substitution exon 1 VAR_036444 Q99572:p.Asn25Ser SP substitution exon 1 VAR_036445 Q99572:p.Arg574Leu SP substitution exon 1 VAR_036446 P30622:p.Met1213Ile SP substitution exon 1 VAR_036447 Q9Y606:p.Asp133Asn SP substitution exon 1 VAR_036448 Q8N7J2:p.Ala457Thr SP substitution exon 1 VAR_036449 Q9UEF7:p.Pro954Leu SP substitution exon 1 VAR_036450 Q8N752:p.Arg21Gln SP substitution exon 1 VAR_036451 P48730:p.Ser97Cys SP substitution exon 1 VAR_036452 Q9UBN4:p.Glu138Lys SP substitution exon 1 VAR_036453 Q9GZU1:p.Val331Leu SP substitution exon 1 VAR_036455 Q5T4D3:p.Met655Val SP substitution exon 1 VAR_036456 Q86U38:p.Ser497Tyr SP substitution exon 1 VAR_036457 Q86U38:p.Arg626Gln SP substitution exon 1 VAR_036458 Q9Y281:p.Ile47Met SP substitution exon 1 VAR_036459 P60981:p.Gly139Glu SP substitution exon 1 VAR_036460 Q96PC5:p.Asp437His SP substitution exon 1 VAR_036461 Q9NYF0:p.Gly124Cys SP substitution exon 1 VAR_036463 P57103:p.Glu612Gln SP substitution exon 1 VAR_036464 Q9UI08:p.Pro188Leu SP substitution exon 1 VAR_036465 Q9UI08:p.Pro247Leu SP substitution exon 1 VAR_036466 P23381:p.Glu455Asp SP substitution exon 1 VAR_036467 P55010:p.Lys418Met SP substitution exon 1 VAR_036468 Q04671:p.Ala773Thr SP substitution exon 1 VAR_036469 Q9BWH6:p.Arg525Gln SP substitution exon 1 VAR_036470 P19113:p.Glu49Val SP substitution exon 1 VAR_036471 P19113:p.Glu285Lys SP substitution exon 1 VAR_036472 P46934:p.Tyr627His SP substitution exon 1 VAR_036473 Q15796:p.Asp300Val SP substitution exon 1 VAR_036475 Q13485:p.Pro130Ser SP substitution exon 1 VAR_036476 Q13485:p.Asp351Asn SP substitution exon 1 VAR_036477 Q13485:p.Arg361His SP substitution exon 1 VAR_036478 P09668:p.Gly126Arg SP substitution exon 1 VAR_036479 P22695:p.Phe208Tyr SP substitution exon 1 VAR_036480 P51168:p.Ala311Val SP substitution exon 1 VAR_036481 P51168:p.Ala314Val SP substitution exon 1 VAR_036482 P51168:p.Leu387Val SP substitution exon 1 VAR_036483 P51170:p.Gly58Arg SP substitution exon 1 VAR_036484 O94778:p.Ile229Met SP substitution exon 1 VAR_036485 Q96GQ5:p.Gly43Glu SP substitution exon 1 VAR_036486 Q93100:p.Leu867Val SP substitution exon 1 VAR_036487 Q93100:p.Gly877Arg SP substitution exon 1 VAR_036488 Q9Y221:p.Glu171Gln SP substitution exon 1 VAR_036489 Q9HC57:p.Val138Met SP substitution exon 1 VAR_036490 Q02556:p.Arg81Lys SP substitution exon 1 VAR_036491 Q02556:p.Ala197Thr SP substitution exon 1 VAR_036492 Q8WYQ9:p.Leu290Val SP substitution exon 1 VAR_036493 P34059:p.Pro510Thr SP substitution exon 1 VAR_036494 Q8IWU5:p.Tyr531His SP substitution exon 1 VAR_036495 Q8IWU5:p.Asp573Asn SP substitution exon 1 VAR_036496 P16444:p.Arg246His SP substitution exon 1 VAR_036497 Q9BT40:p.Ser315Phe SP substitution exon 1 VAR_036498 Q93084:p.Arg674His SP substitution exon 1 VAR_036499 O43520:p.Ala886Val SP substitution exon 1 VAR_036500 O43520:p.Ile1178Met SP substitution exon 1 VAR_036501 Q8NB49:p.Thr157Ile SP substitution exon 1 VAR_036502 Q8NB49:p.Gln931Pro SP substitution exon 1 VAR_036503 O14939:p.Gln807Glu SP substitution exon 1 VAR_036504 P04637:p.Phe134Leu SP substitution exon 1 VAR_036505 P04637:p.Pro177Arg SP substitution exon 1 VAR_036506 P04637:p.Arg213Pro SP substitution exon 1 VAR_036507 P04637:p.Arg267Trp SP substitution exon 1 VAR_036508 P04637:p.Glu271Lys SP substitution exon 1 VAR_036509 P04637:p.Arg273Leu SP substitution exon 1 VAR_036510 Q96S52:p.Met159Ile SP substitution exon 1 VAR_036511 P18858:p.Lys152Glu SP substitution exon 1 VAR_036512 P18858:p.Ser612Leu SP substitution exon 1 VAR_036515 Q8IZW8:p.Arg642Cys SP substitution exon 1 VAR_036516 P56180:p.Arg144Gln SP substitution exon 1 VAR_036517 P05164:p.Arg447Gln SP substitution exon 1 VAR_036520 P49593:p.Arg296Gln SP substitution exon 1 VAR_036521 P49593:p.Gln417Lys SP substitution exon 1 VAR_036522 Q9UJY5:p.Gly239Ser SP substitution exon 1 VAR_036523 Q9UJY5:p.Pro484Ala SP substitution exon 1 VAR_036524 Q9NZ52:p.Pro574Leu SP substitution exon 1 VAR_036528 Q8IZU8:p.Lys1090Glu SP substitution exon 1 VAR_036529 O95644:p.Ala315Thr SP substitution exon 1 VAR_036530 P48378:p.Ala37Gly SP substitution exon 1 VAR_036531 P48378:p.Glu110Lys SP substitution exon 1 VAR_036532 O95897:p.Thr86Met SP substitution exon 1 VAR_036533 Q13445:p.Asp102Asn SP substitution exon 1 VAR_036534 O43823:p.Gln664His SP substitution exon 1 VAR_036536 Q9BXS5:p.Arg303Gln SP substitution exon 1 VAR_036537 Q9NX61:p.Glu85Val SP substitution exon 1 VAR_036538 Q9H2A9:p.Arg247His SP substitution exon 1 VAR_036539 Q05469:p.Pro146Gln SP substitution exon 1 VAR_036541 Q9Y566:p.Ala569Asp SP substitution exon 1 VAR_036542 Q9Y566:p.Gly2026Arg SP substitution exon 1 VAR_036543 P46781:p.Val137Phe SP substitution exon 1 VAR_036544 Q9H190:p.Arg191Gln SP substitution exon 1 VAR_036545 P21397:p.Asp15Glu SP substitution exon 1 VAR_036546 Q9NWM0:p.Gln340Lys SP substitution exon 1 VAR_036548 P16519:p.Asp424Asn SP substitution exon 1 VAR_036549 P01036:p.Thr77Asn SP substitution exon 1 VAR_036550 Q8N4F0:p.Ala20Val SP substitution exon 1 VAR_036551 Q14686:p.Pro1060Ser SP substitution exon 1 VAR_036552 Q14686:p.Ser1191Arg SP substitution exon 1 VAR_036553 Q9Y282:p.Thr297Lys SP substitution exon 1 VAR_036555 P11387:p.Lys326Arg SP substitution exon 1 VAR_036556 Q96MZ0:p.Arg141Trp SP substitution exon 1 VAR_036557 Q9H2X9:p.Gly847Asp SP substitution exon 1 VAR_036559 Q13795:p.Leu108Val SP substitution exon 1 VAR_036560 P60410:p.Ser64Asn SP substitution exon 1 VAR_036561 P60410:p.Ser159Phe SP substitution exon 1 VAR_036562 Q3LI63:p.Ser52Leu SP substitution exon 1 VAR_036563 Q3LI58:p.Gly15Ser SP substitution exon 1 VAR_036564 P02489:p.Asp105His SP substitution exon 1 VAR_036565 P36543:p.Arg50Gly SP substitution exon 1 VAR_036566 O43272:p.Asn488Ser SP substitution exon 1 VAR_036567 P43487:p.Glu16Asp SP substitution exon 1 VAR_036568 O14791:p.Ile188Thr SP substitution exon 1 VAR_036569 P15153:p.Pro29Leu SP substitution exon 1 VAR_036570 P05162:p.Glu132Gln SP substitution exon 1 VAR_036571 P61218:p.Tyr60Asn SP substitution exon 1 VAR_036572 Q99798:p.Thr697Asn SP substitution exon 1 VAR_036573 Q9NTG1:p.Ala669Gly SP substitution exon 1 VAR_036574 Q9NTG1:p.Thr1875Ile SP substitution exon 1 VAR_036575 Q96RD6:p.Ser147Phe SP substitution exon 1 VAR_036576 Q8N0W4:p.Gly214Ser SP substitution exon 1 VAR_036577 Q13796:p.Asp1245His SP substitution exon 1 VAR_036578 O76039:p.Asn368His SP substitution exon 1 VAR_036579 P78381:p.Trp252Cys SP substitution exon 1 VAR_036580 Q8WWL7:p.Lys597Thr SP substitution exon 1 VAR_036581 P43355:p.Lys278Thr SP substitution exon 1 VAR_036582 P43358:p.Gly153Asp SP substitution exon 1 VAR_036583 Q9UBF1:p.Gly6Cys SP substitution exon 1 VAR_036584 Q9UNF1:p.Lys458Gln SP substitution exon 1 VAR_036585 Q9HCI5:p.Tyr640Phe SP substitution exon 1 VAR_036586 Q9HCI5:p.Thr664Asn SP substitution exon 1 VAR_036587 Q9Y4W2:p.Arg170Cys SP substitution exon 1 VAR_036588 Q92502:p.Gly188Ser SP substitution exon 1 VAR_036589 Q92502:p.Glu242Lys SP substitution exon 1 VAR_036590 Q92838:p.Pro118Leu SP substitution exon 1 VAR_036591 Q92796:p.Gly40Arg SP substitution exon 1 VAR_036592 Q9NP60:p.Phe606Leu SP substitution exon 1 VAR_036593 P60891:p.Asp203His SP substitution exon 1 VAR_036594 P60891:p.Val219Gly SP substitution exon 1 VAR_036595 P60891:p.His231Asp SP substitution exon 1 VAR_036596 Q9UKZ4:p.Leu342Phe SP substitution exon 1 VAR_036597 Q9UKZ4:p.Val1216Ile SP substitution exon 1 VAR_036598 Q9UKZ4:p.Phe1482Val SP substitution exon 1 VAR_036599 Q9UKZ4:p.Gln2235His SP substitution exon 1 VAR_036600 Q9UKZ4:p.Leu2396Phe SP substitution exon 1 VAR_036601 Q9UJG1:p.Val63Ile SP substitution exon 1 VAR_036602 Q8IW52:p.Val206Ile SP substitution exon 1 VAR_036603 Q16280:p.Arg97His SP substitution exon 1 VAR_036604 Q16280:p.Arg399Gln SP substitution exon 1 VAR_036605 P21810:p.Arg266Thr SP substitution exon 1 VAR_036606 P21810:p.Lys288Asn SP substitution exon 1 VAR_036607 Q5JWR5:p.Asp1155His SP substitution exon 1 VAR_036608 O60244:p.Phe1325Leu SP substitution exon 1 VAR_036609 Q9UM01:p.Pro413Ser SP substitution exon 1 VAR_036610 O15269:p.Arg239Trp SP substitution exon 1 VAR_036611 O00461:p.Ala312Val SP substitution exon 1 VAR_036612 Q9NVA1:p.Trp44Ser SP substitution exon 1 VAR_036613 Q9NTK5:p.Glu168Gln SP substitution exon 1 VAR_036614 P43490:p.Leu176Ser SP substitution exon 1 VAR_036615 O14795:p.Pro209Ser SP substitution exon 1 VAR_036616 O14817:p.Ile67Met SP substitution exon 1 VAR_036617 P0C5J1:p.Asp43Tyr SP substitution exon 1 VAR_036618 P0C5J1:p.Arg285Ser SP substitution exon 1 VAR_036619 Q9NVL1:p.Ala7Ser SP substitution exon 1 VAR_036620 Q9NVL1:p.Arg30Pro SP substitution exon 1 VAR_036621 Q9NVL1:p.Val70Ala SP substitution exon 1 VAR_036622 Q86UG4:p.Ala27Val SP substitution exon 1 VAR_036623 Q86UG4:p.Lys381Arg SP substitution exon 1 VAR_036624 Q86UG4:p.Thr654Arg SP substitution exon 1 VAR_036626 Q9BPU9:p.Ser101Arg SP substitution exon 1 VAR_036627 Q5VU43:p.Asn13Ser SP substitution exon 1 VAR_036628 Q5VU43:p.Arg25Leu SP substitution exon 1 VAR_036629 Q5VU43:p.Ile49Thr SP substitution exon 1 VAR_036630 Q5VU43:p.Ala167Thr SP substitution exon 1 VAR_036631 Q496A3:p.Gly8Arg SP substitution exon 1 VAR_036632 Q96RS6:p.Leu252Phe SP substitution exon 1 VAR_036633 Q96RS6:p.Ile269Val SP substitution exon 1 VAR_036634 Q96RS6:p.Asn394His SP substitution exon 1 VAR_036635 Q96RS6:p.Asn426Ser SP substitution exon 1 VAR_036636 O60393:p.Arg355His SP substitution exon 1 VAR_036637 O60393:p.Arg360Gln SP substitution exon 1 VAR_036638 O60393:p.Asp452Asn SP substitution exon 1 VAR_036639 O60393:p.Gly482Ser SP substitution exon 1 VAR_036640 O60393:p.Phe517Leu SP substitution exon 1 VAR_036641 Q5GFL6:p.Leu137Arg SP substitution exon 1 VAR_036642 Q8N4B5:p.Cys136Ser SP substitution exon 1 VAR_036643 A2A3L6:p.Glu231Gly SP substitution exon 1 VAR_036644 A2A3L6:p.Pro532Ala SP substitution exon 1 VAR_036645 A2A3L6:p.Asn550Ser SP substitution exon 1 VAR_036646 Q7Z333:p.Met274Ile SP substitution exon 1 VAR_036647 Q7Z333:p.Asn603Asp SP substitution exon 1 VAR_036648 Q7Z333:p.Gln653Lys SP substitution exon 1 VAR_036649 Q7Z333:p.Arg1294Cys SP substitution exon 1 VAR_036650 Q7Z333:p.Pro2368Arg SP substitution exon 1 VAR_036651 Q9H4B0:p.Ala229Pro SP substitution exon 1 VAR_036652 Q8IYU4:p.Asp92Val SP substitution exon 1 VAR_036653 Q8IYU4:p.Gln143Lys SP substitution exon 1 VAR_036654 Q8IYU4:p.Cys171Arg SP substitution exon 1 VAR_036655 Q8IYU4:p.Gly259Asp SP substitution exon 1 VAR_036656 Q8IYU4:p.Tyr274His SP substitution exon 1 VAR_036657 Q8IYU4:p.Ala275Val SP substitution exon 1 VAR_036658 Q8IYU4:p.Trp379Gly SP substitution exon 1 VAR_036659 Q8IYU4:p.Gln455Glu SP substitution exon 1 VAR_036660 Q14524:p.Gly9Val SP substitution exon 1 VAR_036661 Q14524:p.Arg225Gln SP substitution exon 1 VAR_036662 Q14524:p.Thr512Ile SP substitution exon 1 VAR_036663 Q14524:p.Ser524Tyr SP substitution exon 1 VAR_036664 Q14524:p.Gly639Arg SP substitution exon 1 VAR_036665 Q14524:p.Gly1262Ser SP substitution exon 1 VAR_036666 Q14524:p.Ser1333Tyr SP substitution exon 1 VAR_036667 Q14524:p.Ser1609Trp SP substitution exon 1 VAR_036668 Q14524:p.Asp1819Asn SP substitution exon 1 VAR_036669 Q12809:p.Arg100Gly SP substitution exon 1 VAR_036670 Q12809:p.Arg181Gln SP substitution exon 1 VAR_036671 Q12809:p.Ala490Thr SP substitution exon 1 VAR_036672 Q12809:p.Lys525Asn SP substitution exon 1 VAR_036673 Q12809:p.Arg528Pro SP substitution exon 1 VAR_036674 Q12809:p.Arg696Cys SP substitution exon 1 VAR_036675 Q12809:p.Arg752Gln SP substitution exon 1 VAR_036676 Q12809:p.Arg784Trp SP substitution exon 1 VAR_036684 Q9P202:p.Arg364His SP substitution exon 1 VAR_036685 Q9P202:p.Arg423Pro SP substitution exon 1 VAR_036689 Q9NNX6:p.Glu214Asp SP substitution exon 1 VAR_036690 Q9NNX6:p.Leu242Val SP substitution exon 1 VAR_036691 P58753:p.Ser55Asn SP substitution exon 1 VAR_036692 Q8TEU8:p.Val96Met SP substitution exon 1 VAR_036693 P02730:p.Asp45Glu SP substitution exon 1 VAR_036694 Q9C0G0:p.Asn972Thr SP substitution exon 1 VAR_036695 Q5H9L4:p.Leu34Pro SP substitution exon 1 VAR_036696 Q5H9L4:p.Glu61Lys SP substitution exon 1 VAR_036697 Q5H9L4:p.Ser308Gly SP substitution exon 1 VAR_036699 Q5H9L4:p.Arg458His SP substitution exon 1 VAR_036700 Q8IY50:p.Ser231Cys SP substitution exon 1 VAR_036702 Q9BZG8:p.Ala7Val SP substitution exon 1 VAR_036703 Q9BZG8:p.Ala34Asp SP substitution exon 1 VAR_036707 Q7RTX1:p.Lys347Glu SP substitution exon 1 VAR_036708 Q7RTX1:p.Ala372Thr SP substitution exon 1 VAR_036709 Q7RTX1:p.Arg507Gln SP substitution exon 1 VAR_036710 Q3KR16:p.Ala35Thr SP substitution exon 1 VAR_036712 Q8N323:p.Gly353Arg SP substitution exon 1 VAR_036714 Q8TBC3:p.Gln507Leu SP substitution exon 1 VAR_036715 Q96HY7:p.Phe20Leu SP substitution exon 1 VAR_036716 Q96HY7:p.Tyr272Asp SP substitution exon 1 VAR_036717 Q96HY7:p.Arg308Leu SP substitution exon 1 VAR_036718 Q96HY7:p.Asn350Asp SP substitution exon 1 VAR_036719 Q96HY7:p.Ile607Met SP substitution exon 1 VAR_036720 Q96S37:p.Gly65Trp SP substitution exon 1 VAR_036721 Q96S37:p.Arg90His SP substitution exon 1 VAR_036722 Q96S37:p.Arg92Cys SP substitution exon 1 VAR_036723 Q96S37:p.Val138Met SP substitution exon 1 VAR_036724 Q96S37:p.Gly164Ser SP substitution exon 1 VAR_036725 Q96S37:p.Thr217Met SP substitution exon 1 VAR_036726 Q96S37:p.Ala226Val SP substitution exon 1 VAR_036727 Q96S37:p.Arg284Gly SP substitution exon 1 VAR_036728 Q96S37:p.Gly290Cys SP substitution exon 1 VAR_036729 Q96S37:p.Gln297Glu SP substitution exon 1 VAR_036730 Q96S37:p.Glu298Asp SP substitution exon 1 VAR_036731 Q96S37:p.Ile305Ser SP substitution exon 1 VAR_036732 Q96S37:p.Gln312Leu SP substitution exon 1 VAR_036738 P16442:p.Thr163Met SP substitution exon 1 VAR_036739 P16442:p.Arg198Trp SP substitution exon 1 VAR_036740 P16442:p.Met214Arg SP substitution exon 1 VAR_036747 Q96Q42:p.Ile94Val SP substitution exon 1 VAR_036748 Q96Q42:p.Glu159Lys SP substitution exon 1 VAR_036750 Q9P1A6:p.Thr620Met SP substitution exon 1 VAR_036751 Q96DG6:p.Tyr155Cys SP substitution exon 1 VAR_036752 Q7L2H7:p.Gly37Arg SP substitution exon 1 VAR_036753 Q7L2H7:p.Glu80Gly SP substitution exon 1 VAR_036754 Q7L2H7:p.Gln346Arg SP substitution exon 1 VAR_036755 A6NKF1:p.Thr8Pro SP substitution exon 1 VAR_036756 A6NKF1:p.Leu186Pro SP substitution exon 1 VAR_036757 Q8N5C7:p.Leu9Pro SP substitution exon 1 VAR_036758 Q8N5C7:p.Glu13Lys SP substitution exon 1 VAR_036759 Q8N5C7:p.Ser25Pro SP substitution exon 1 VAR_036760 Q96BH3:p.Cys100Trp SP substitution exon 1 VAR_036761 Q96BH3:p.Asp170Asn SP substitution exon 1 VAR_036762 Q96BH3:p.Glu199Lys SP substitution exon 1 VAR_036763 Q96BH3:p.Asp215Asn SP substitution exon 1 VAR_036765 O75129:p.Val70Ile SP substitution exon 1 VAR_036766 O75129:p.Arg865His SP substitution exon 1 VAR_036769 Q149M9:p.Ser174Gly SP substitution exon 1 VAR_036770 Q149M9:p.Leu211Phe SP substitution exon 1 VAR_036771 Q149M9:p.Ala218Thr SP substitution exon 1 VAR_036772 Q149M9:p.Gln900Glu SP substitution exon 1 VAR_036773 Q149M9:p.Asn926Ile SP substitution exon 1 VAR_036774 Q149M9:p.His935Arg SP substitution exon 1 VAR_036776 Q96RP8:p.Pro189Arg SP substitution exon 1 VAR_036777 Q96RP8:p.Met418Thr SP substitution exon 1 VAR_036778 Q16322:p.Arg200His SP substitution exon 1 VAR_036779 Q16322:p.Val220Met SP substitution exon 1 VAR_036780 Q16322:p.Ser258Asn SP substitution exon 1 VAR_036781 Q9UHC1:p.Asn826Asp SP substitution exon 1 VAR_036782 Q16445:p.Thr187Met SP substitution exon 1 VAR_036783 Q16445:p.Pro404Ser SP substitution exon 1 VAR_036784 Q8NFD2:p.Ala239Thr SP substitution exon 1 VAR_036785 Q8NFD2:p.Gly318Arg SP substitution exon 1 VAR_036786 Q8NFD2:p.Gly442Arg SP substitution exon 1 VAR_036787 Q8NFD2:p.His490Arg SP substitution exon 1 VAR_036788 P31645:p.Ile425Leu SP substitution exon 1 VAR_036789 P31645:p.Phe465Leu SP substitution exon 1 VAR_036790 P31645:p.Leu550Val SP substitution exon 1 VAR_036791 Q6YBV0:p.Leu209Ile SP substitution exon 1 VAR_036794 Q8TED4:p.Gly268Ser SP substitution exon 1 VAR_036795 Q6UDR6:p.Gly73Ser SP substitution exon 1 VAR_036796 Q9P2K9:p.Leu51Val SP substitution exon 1 VAR_036797 Q9P2K9:p.Gly182Ser SP substitution exon 1 VAR_036798 Q9P2K9:p.Ala650Thr SP substitution exon 1 VAR_036799 Q9P2K9:p.Gly661Ala SP substitution exon 1 VAR_036801 A6NJ78:p.Asn31Lys SP substitution exon 1 VAR_036802 A6NJ78:p.Ala149Thr SP substitution exon 1 VAR_036803 Q9BVN2:p.Ser362Phe SP substitution exon 1 VAR_036804 Q6PIU1:p.Asp22Gly SP substitution exon 1 VAR_036805 P35527:p.Met157Arg SP substitution exon 1 VAR_036806 P35527:p.Asn161His SP substitution exon 1 VAR_036807 P35527:p.Asn161Ile SP substitution exon 1 VAR_036808 P35527:p.Arg163Pro SP substitution exon 1 VAR_036810 P35527:p.Leu458Phe SP substitution exon 1 VAR_036811 Q8IUF8:p.Ala386Thr SP substitution exon 1 VAR_036812 Q8N1S5:p.Thr111Ala SP substitution exon 1 VAR_036813 Q6UE05:p.Ile14Asn SP substitution exon 1 VAR_036814 Q6UE05:p.Ala70Asp SP substitution exon 1 VAR_036815 Q6UE05:p.Trp78Arg SP substitution exon 1 VAR_036816 O76082:p.Val481Ile SP substitution exon 1 VAR_036817 O43868:p.Leu12Pro SP substitution exon 1 VAR_036818 O43868:p.Arg142His SP substitution exon 1 VAR_036819 O43868:p.Glu172Asp SP substitution exon 1 VAR_036820 O43868:p.Glu385Lys SP substitution exon 1 VAR_036821 O43868:p.Met612Thr SP substitution exon 1 VAR_036823 P46721:p.Ala187Thr SP substitution exon 1 VAR_036824 Q8TF40:p.Gly76Cys SP substitution exon 1 VAR_036825 Q8TF40:p.Ser354Leu SP substitution exon 1 VAR_036826 Q8TF40:p.Gln648Arg SP substitution exon 1 VAR_036827 Q8TF40:p.Val738Leu SP substitution exon 1 VAR_036828 Q8TF40:p.Ile844Val SP substitution exon 1 VAR_036829 P11086:p.Thr98Ala SP substitution exon 1 VAR_036830 P11086:p.Arg112Cys SP substitution exon 1 VAR_036831 P11086:p.Ala175Thr SP substitution exon 1 VAR_036833 Q63HN1:p.Asn72Lys SP substitution exon 1 VAR_036834 Q63HN1:p.Asp203Glu SP substitution exon 1 VAR_036835 Q63HN1:p.Val229Met SP substitution exon 1 VAR_036836 Q6NT32:p.Arg71Gln SP substitution exon 1 VAR_036837 Q6NT32:p.Glu261Lys SP substitution exon 1 VAR_036838 Q6NT32:p.His344Gln SP substitution exon 1 VAR_036841 P17035:p.Arg179Gly SP substitution exon 1 VAR_036842 P17035:p.Lys465Gln SP substitution exon 1 VAR_036843 P17035:p.Met524Thr SP substitution exon 1 VAR_036844 Q2M1K9:p.Asn629Ser SP substitution exon 1 VAR_036845 Q69YN4:p.Ile753Val SP substitution exon 1 VAR_036846 Q9Y4C4:p.Leu163Val SP substitution exon 1 VAR_036847 Q9Y4C4:p.Leu892Pro SP substitution exon 1 VAR_036848 Q86VV8:p.Ser126Ala SP substitution exon 1 VAR_036849 Q86VV8:p.Lys245Arg SP substitution exon 1 VAR_036852 Q9UF12:p.Pro91Arg SP substitution exon 1 VAR_036853 Q9UF12:p.Arg525Gln SP substitution exon 1 VAR_036854 Q15007:p.Glu84Asp SP substitution exon 1 VAR_036855 P11686:p.Glu66Lys SP substitution exon 1 VAR_036857 P35241:p.Lys328Glu SP substitution exon 1 VAR_036858 P35241:p.Asp490Asn SP substitution exon 1 VAR_036859 P35241:p.Asp578Asn SP substitution exon 1 VAR_036860 P08575:p.Thr191Ala SP substitution exon 1 VAR_036861 Q9NZW4:p.Tyr6Asp SP substitution exon 1 VAR_036862 Q9NZW4:p.Ala15Val SP substitution exon 1 VAR_036863 O14746:p.Ala202Thr SP substitution exon 1 VAR_036864 O14746:p.Ala279Thr SP substitution exon 1 VAR_036866 O14746:p.Val694Met SP substitution exon 1 VAR_036867 O14746:p.Tyr772Cys SP substitution exon 1 VAR_036868 O14746:p.Arg865His SP substitution exon 1 VAR_036869 O14746:p.Lys902Asn SP substitution exon 1 VAR_036870 O14746:p.Val1090Met SP substitution exon 1 VAR_036871 Q9HC29:p.Leu81Val SP substitution exon 1 VAR_036872 Q9HC29:p.Arg471Cys SP substitution exon 1 VAR_036874 Q5GAN3:p.Ser139Ala SP substitution exon 1 VAR_036878 O94913:p.Gln651His SP substitution exon 1 VAR_036879 O94913:p.His1119Tyr SP substitution exon 1 VAR_036881 Q9P1Z2:p.Arg393Lys SP substitution exon 1 VAR_036882 Q9ULJ1:p.Arg177His SP substitution exon 1 VAR_036883 Q9ULJ1:p.Lys350Arg SP substitution exon 1 VAR_036884 Q9UPW5:p.Glu423Lys SP substitution exon 1 VAR_036885 Q5VWX1:p.Gly308Ala SP substitution exon 1 VAR_036886 Q9UPR6:p.Ser164Leu SP substitution exon 1 VAR_036887 Q9UPR6:p.Val183Met SP substitution exon 1 VAR_036888 Q9UPR6:p.Val210Leu SP substitution exon 1 VAR_036889 Q9UPR6:p.Pro235Leu SP substitution exon 1 VAR_036890 Q9UPR6:p.Ala577Thr SP substitution exon 1 VAR_036891 Q9UPR6:p.Asp589Asn SP substitution exon 1 VAR_036892 P17900:p.Ile59Val SP substitution exon 1 VAR_036893 P17900:p.Met69Val SP substitution exon 1 VAR_036894 Q53QW1:p.Val11Leu SP substitution exon 1 VAR_036895 Q53QW1:p.Gln79Arg SP substitution exon 1 VAR_036896 Q53QW1:p.Glu168Lys SP substitution exon 1 VAR_036897 Q53QW1:p.Ser261Pro SP substitution exon 1 VAR_036903 Q8N8M0:p.Phe63Ser SP substitution exon 1 VAR_036904 Q3KNW5:p.Ser6Phe SP substitution exon 1 VAR_036905 Q3KNW5:p.Ile114Val SP substitution exon 1 VAR_036906 Q5T8A7:p.Val98Ala SP substitution exon 1 VAR_036907 Q5T8A7:p.Lys206Glu SP substitution exon 1 VAR_036908 Q5T8A7:p.Arg346Lys SP substitution exon 1 VAR_036909 Q5T8A7:p.Met434Thr SP substitution exon 1 VAR_036910 Q5T8A7:p.Arg520His SP substitution exon 1 VAR_036911 Q5T8A7:p.Gly576Ser SP substitution exon 1 VAR_036912 Q5T8A7:p.Asn834Asp SP substitution exon 1 VAR_036913 Q8NCU4:p.Arg374Trp SP substitution exon 1 VAR_036915 Q9P2B7:p.Thr238Ala SP substitution exon 1 VAR_036916 Q9P2B7:p.Leu443Ser SP substitution exon 1 VAR_036917 A0PJX8:p.Arg284His SP substitution exon 1 VAR_036926 A2RUC4:p.Ser50Gly SP substitution exon 1 VAR_036927 Q3SXY7:p.Met291Leu SP substitution exon 1 VAR_036928 Q3SXY7:p.Ala441Thr SP substitution exon 1 VAR_036929 Q3SXY7:p.Thr458Met SP substitution exon 1 VAR_036930 O94830:p.Thr186Met SP substitution exon 1 VAR_036931 Q6NSZ9:p.Pro325Ala SP substitution exon 1 VAR_036933 Q9BXJ8:p.Gln86Arg SP substitution exon 1 VAR_036934 Q9BXJ8:p.Thr201Ala SP substitution exon 1 VAR_036935 A6NDA9:p.Cys28Tyr SP substitution exon 1 VAR_036936 A6NDA9:p.Lys179Asn SP substitution exon 1 VAR_036937 A6NDA9:p.Leu220Phe SP substitution exon 1 VAR_036938 A6NDA9:p.Val496Ala SP substitution exon 1 VAR_036939 A6NDA9:p.Thr510Pro SP substitution exon 1 VAR_036941 P60891:p.Glu43Asp SP substitution exon 1 VAR_036942 P60891:p.Met115Thr SP substitution exon 1 VAR_036943 P60891:p.Gln133Pro SP substitution exon 1 VAR_036944 P60891:p.Leu152Pro SP substitution exon 1 VAR_036945 Q9BS91:p.Asn247Ile SP substitution exon 1 VAR_036946 Q494U1:p.Arg539Pro SP substitution exon 1 VAR_036950 Q8IWE5:p.Ile32Thr SP substitution exon 1 VAR_036951 Q86YB7:p.Asn119Asp SP substitution exon 1 VAR_036952 Q9H7U1:p.Asn84Ser SP substitution exon 1 VAR_036953 Q9H7U1:p.Cys755Tyr SP substitution exon 1 VAR_036954 Q9H7U1:p.Ser819Pro SP substitution exon 1 VAR_036955 Q9H7U1:p.Pro821Ser SP substitution exon 1 VAR_036956 Q8NFR9:p.Tyr219Cys SP substitution exon 1 VAR_036957 Q8NFR9:p.Pro402Ser SP substitution exon 1 VAR_036958 Q8NFR9:p.Ser417Thr SP substitution exon 1 VAR_036961 Q2M3D2:p.Asn173Asp SP substitution exon 1 VAR_036962 Q75LS8:p.Val125Gly SP substitution exon 1 VAR_036963 Q86VW0:p.Tyr49Phe SP substitution exon 1 VAR_036964 Q8TD55:p.Pro290Ser SP substitution exon 1 VAR_036965 Q6AWC2:p.Ala773Ser SP substitution exon 1 VAR_036966 Q6AWC2:p.Val816Phe SP substitution exon 1 VAR_036969 Q9ULE0:p.Ala495Thr SP substitution exon 1 VAR_036970 Q9ULE0:p.Tyr593Cys SP substitution exon 1 VAR_036971 A6NIJ9:p.Leu181Pro SP substitution exon 1 VAR_036972 A6NL08:p.Leu141Phe SP substitution exon 1 VAR_036973 A6NL08:p.Ala235Asp SP substitution exon 1 VAR_036974 Q92562:p.Ile41Thr SP substitution exon 1 VAR_036975 Q7Z6R9:p.Val214Phe SP substitution exon 1 VAR_036976 Q8NCV1:p.Gly44Glu SP substitution exon 1 VAR_036978 Q8IYK4:p.Val475Ile SP substitution exon 1 VAR_036979 Q8IV45:p.Arg432Gly SP substitution exon 1 VAR_036980 Q8WXG1:p.Leu42Arg SP substitution exon 1 VAR_036981 A6NCV1:p.Arg2Gly SP substitution exon 1 VAR_036982 A6NCV1:p.Leu61Phe SP substitution exon 1 VAR_036983 A6NCV1:p.Tyr75Cys SP substitution exon 1 VAR_036984 A6NCV1:p.Gly86Asp SP substitution exon 1 VAR_036985 A6NCV1:p.Arg120Cys SP substitution exon 1 VAR_036986 Q9BQ31:p.Val225Leu SP substitution exon 1 VAR_036987 P15391:p.Arg514His SP substitution exon 1 VAR_036988 Q96KG7:p.Val206Ile SP substitution exon 1 VAR_036989 Q96KG7:p.Arg1072Lys SP substitution exon 1 VAR_036990 A6BM72:p.His242Arg SP substitution exon 1 VAR_036991 O95050:p.Asp28Asn SP substitution exon 1 VAR_036992 O95050:p.Asn246Ser SP substitution exon 1 VAR_036993 O95050:p.Phe254Cys SP substitution exon 1 VAR_036994 O95050:p.Arg258His SP substitution exon 1 VAR_036995 Q9UMR3:p.Ile152Met SP substitution exon 1 VAR_036996 O60331:p.Asp253Asn SP substitution exon 1 VAR_036997 Q13253:p.Pro35Ala SP substitution exon 1 VAR_036998 Q13253:p.Ala36Pro SP substitution exon 1 VAR_036999 Q13253:p.Glu48Lys SP substitution exon 1 VAR_037000 Q13253:p.Arg167Gly SP substitution exon 1 VAR_037001 Q13253:p.Pro187Ser SP substitution exon 1 VAR_037002 Q86VI1:p.Tyr75Asn SP substitution exon 1 VAR_037004 P14780:p.Asn38Ser SP substitution exon 1 VAR_037007 P02461:p.Gly297Arg SP substitution exon 1 VAR_037009 P98164:p.Asn83Ser SP substitution exon 1 VAR_037010 P98164:p.Gly669Asp SP substitution exon 1 VAR_037011 P98164:p.His909Arg SP substitution exon 1 VAR_037012 P98164:p.His1083Gln SP substitution exon 1 VAR_037013 P98164:p.Tyr2522His SP substitution exon 1 VAR_037014 P98164:p.Arg3011Met SP substitution exon 1 VAR_037015 Q6PI48:p.Ser45Gly SP substitution exon 1 VAR_037016 Q6PI48:p.Cys152Phe SP substitution exon 1 VAR_037017 Q6PI48:p.Arg179His SP substitution exon 1 VAR_037018 Q6PI48:p.Gln184Lys SP substitution exon 1 VAR_037019 Q6PI48:p.Gln248Lys SP substitution exon 1 VAR_037020 Q6PI48:p.Arg263Gln SP substitution exon 1 VAR_037021 Q6PI48:p.Asp560Val SP substitution exon 1 VAR_037022 Q6PI48:p.Leu613Phe SP substitution exon 1 VAR_037023 Q6PI48:p.Leu626Gln SP substitution exon 1 VAR_037024 Q6PI48:p.Leu626Val SP substitution exon 1 VAR_037025 Q6PI48:p.Tyr629Cys SP substitution exon 1 VAR_037026 Q9Y5X4:p.Gly56Arg SP substitution exon 1 VAR_037027 A6NDH6:p.Val108Ile SP substitution exon 1 VAR_037028 A6NDH6:p.Ser148Thr SP substitution exon 1 VAR_037029 A6NDH6:p.Thr167Ser SP substitution exon 1 VAR_037030 A6ND48:p.Val36Ala SP substitution exon 1 VAR_037031 A6ND48:p.Asp50Asn SP substitution exon 1 VAR_037032 A6ND48:p.Ser170Asn SP substitution exon 1 VAR_037033 Q6P1Q0:p.Val84Ile SP substitution exon 1 VAR_037034 Q53GL0:p.Pro21Ala SP substitution exon 1 VAR_037035 Q9NV06:p.Ile42Val SP substitution exon 1 VAR_037036 Q9NV06:p.Asn70Ser SP substitution exon 1 VAR_037038 Q96C03:p.Gly324Glu SP substitution exon 1 VAR_037039 Q96C03:p.Arg354Gln SP substitution exon 1 VAR_037040 Q9NQG6:p.Gly78Arg SP substitution exon 1 VAR_037041 Q9NQG6:p.Thr89Met SP substitution exon 1 VAR_037042 Q9NQG6:p.Arg169Trp SP substitution exon 1 VAR_037043 Q9NQG6:p.Asp264Asn SP substitution exon 1 VAR_037044 A6NET4:p.Gly44Asp SP substitution exon 1 VAR_037045 A6NHA9:p.Ser240Phe SP substitution exon 1 VAR_037046 A6NHA9:p.Cys252Tyr SP substitution exon 1 VAR_037047 A6NHA9:p.Lys288Arg SP substitution exon 1 VAR_037048 A6NF89:p.Thr190Ile SP substitution exon 1 VAR_037049 A6NJZ3:p.Leu13Gln SP substitution exon 1 VAR_037050 A6NJZ3:p.Thr222Ala SP substitution exon 1 VAR_037051 Q8IVV8:p.Lys91Gln SP substitution exon 1 VAR_037052 Q8IVV8:p.Ala131Asp SP substitution exon 1 VAR_037053 Q8IVV8:p.Cys151Gly SP substitution exon 1 VAR_037054 Q8IVV8:p.Glu173Asp SP substitution exon 1 VAR_037055 P42262:p.Gln608Arg SP substitution exon 1 VAR_037056 Q9H6Y2:p.Arg50Cys SP substitution exon 1 VAR_037057 Q9H6Y2:p.Cys151Arg SP substitution exon 1 VAR_037058 Q9H6Y2:p.Ser210Phe SP substitution exon 1 VAR_037059 Q9H6Y2:p.Tyr235Cys SP substitution exon 1 VAR_037060 Q9NRG9:p.Lys108Met SP substitution exon 1 VAR_037061 Q13685:p.Ile250Val SP substitution exon 1 VAR_037062 A6NMN3:p.Arg69Leu SP substitution exon 1 VAR_037063 Q9ULG6:p.Ser44Pro SP substitution exon 1 VAR_037064 Q9ULG6:p.Glu161Val SP substitution exon 1 VAR_037065 Q9ULG6:p.Tyr418His SP substitution exon 1 VAR_037066 Q9ULG6:p.Arg436Leu SP substitution exon 1 VAR_037067 Q9ULG6:p.Ala477Val SP substitution exon 1 VAR_037075 Q9H6Y5:p.Arg53His SP substitution exon 1 VAR_037076 Q8IYB8:p.Pro30Thr SP substitution exon 1 VAR_037077 Q96F81:p.Glu103Lys SP substitution exon 1 VAR_037078 A7MBM2:p.Pro47Ala SP substitution exon 1 VAR_037079 A7MBM2:p.Cys56Ser SP substitution exon 1 VAR_037080 A7MBM2:p.Gly388Glu SP substitution exon 1 VAR_037081 A7MBM2:p.Gly1145Ser SP substitution exon 1 VAR_037082 A7MBM2:p.Arg1247Trp SP substitution exon 1 VAR_037083 Q04695:p.Asn109Asp SP substitution exon 1 VAR_037084 Q9GZT8:p.Thr324Ile SP substitution exon 1 VAR_037085 O60344:p.Arg571Gln SP substitution exon 1 VAR_037087 P49716:p.Arg248Trp SP substitution exon 1 VAR_037088 Q9NWH9:p.Val235Leu SP substitution exon 1 VAR_037089 A6NKK0:p.Ser148Thr SP substitution exon 1 VAR_037090 A6NKK0:p.Val150Ile SP substitution exon 1 VAR_037091 A6NKK0:p.Ile153Leu SP substitution exon 1 VAR_037092 A6NKK0:p.Thr181Ile SP substitution exon 1 VAR_037093 A6NKK0:p.Ser230Thr SP substitution exon 1 VAR_037094 Q9ULM0:p.Asn75Ser SP substitution exon 1 VAR_037095 Q9ULM0:p.Gln113Leu SP substitution exon 1 VAR_037096 Q9ULM0:p.Arg322Gln SP substitution exon 1 VAR_037097 Q9ULM0:p.Thr430Ala SP substitution exon 1 VAR_037098 Q9ULM0:p.Met438Val SP substitution exon 1 VAR_037099 Q9ULM0:p.His735Arg SP substitution exon 1 VAR_037100 Q09470:p.Thr226Lys SP substitution exon 1 VAR_037101 Q09470:p.Thr226Arg SP substitution exon 1 VAR_037102 Q09470:p.Ala242Pro SP substitution exon 1 VAR_037103 Q09470:p.Pro244His SP substitution exon 1 VAR_037104 P35499:p.Arg675Gly SP substitution exon 1 VAR_037105 P35499:p.Arg675Gln SP substitution exon 1 VAR_037106 P35499:p.Arg675Trp SP substitution exon 1 VAR_037107 P35499:p.Gly1456Glu SP substitution exon 1 VAR_037108 Q8IYS5:p.Ile97Ser SP substitution exon 1 VAR_037109 Q8WW52:p.Asp51Asn SP substitution exon 1 VAR_037110 Q8WW52:p.Asn87Asp SP substitution exon 1 VAR_037111 Q8WW52:p.Ile119Thr SP substitution exon 1 VAR_037112 Q8WW52:p.Ala416Val SP substitution exon 1 VAR_037113 Q8WW52:p.Gly526Ala SP substitution exon 1 VAR_037114 Q8WW52:p.Gly546Asp SP substitution exon 1 VAR_037115 Q8N699:p.Gly119Ser SP substitution exon 1 VAR_037116 Q8N699:p.Arg127Gly SP substitution exon 1 VAR_037117 Q27J81:p.Pro1096Ser SP substitution exon 1 VAR_037118 Q27J81:p.Thr1135Met SP substitution exon 1 VAR_037119 Q8N2S1:p.Val194Ile SP substitution exon 1 VAR_037120 Q8N2S1:p.Arg635Gly SP substitution exon 1 VAR_037121 Q8N2S1:p.Pro679Ala SP substitution exon 1 VAR_037122 Q8N2S1:p.Thr787Ala SP substitution exon 1 VAR_037123 Q8N2S1:p.Thr820Ala SP substitution exon 1 VAR_037124 Q8N2S1:p.Thr1141Met SP substitution exon 1 VAR_037125 Q9ULD0:p.Pro511Leu SP substitution exon 1 VAR_037126 Q9ULD0:p.Asp573Asn SP substitution exon 1 VAR_037127 Q9ULD0:p.Ser623Cys SP substitution exon 1 VAR_037128 Q9ULD0:p.Thr637Met SP substitution exon 1 VAR_037129 Q9ULD0:p.Asn725Ser SP substitution exon 1 VAR_037130 Q8NDM7:p.Ile393Thr SP substitution exon 1 VAR_037131 Q8NDM7:p.Leu616Phe SP substitution exon 1 VAR_037132 Q8NDM7:p.Val634Ile SP substitution exon 1 VAR_037133 Q8NDM7:p.Ala835Ser SP substitution exon 1 VAR_037136 Q4AE62:p.Met137Ile SP substitution exon 1 VAR_037137 Q4VX76:p.Pro414Ser SP substitution exon 1 VAR_037138 Q4VX76:p.Val540Ile SP substitution exon 1 VAR_037139 Q4VX76:p.Leu587Gln SP substitution exon 1 VAR_037140 P17813:p.Gly413Val SP substitution exon 1 VAR_037141 P33981:p.Ala97Val SP substitution exon 1 VAR_037142 P33981:p.Asp758Asn SP substitution exon 1 VAR_037145 Q9Y2H5:p.Val43Ile SP substitution exon 1 VAR_037146 Q9Y2H5:p.Arg837Lys SP substitution exon 1 VAR_037147 O94806:p.Asn42Asp SP substitution exon 1 VAR_037148 O94806:p.Ala128Thr SP substitution exon 1 VAR_037149 O94806:p.Gln546Arg SP substitution exon 1 VAR_037151 Q6PEZ8:p.Arg44Trp SP substitution exon 1 VAR_037152 Q7Z6J8:p.Thr174Pro SP substitution exon 1 VAR_037153 Q7Z6J8:p.Val379Met SP substitution exon 1 VAR_037154 A6PVS8:p.Phe35Cys SP substitution exon 1 VAR_037155 A6PVS8:p.Met129Ile SP substitution exon 1 VAR_037156 A6PVS8:p.His156Tyr SP substitution exon 1 VAR_037162 Q14774:p.Ser116Pro SP substitution exon 1 VAR_037163 Q14774:p.Pro356Leu SP substitution exon 1 VAR_037164 Q96PV4:p.Asn107His SP substitution exon 1 VAR_037165 Q96PV4:p.Arg349Trp SP substitution exon 1 VAR_037167 Q9Y2M0:p.Gly233Glu SP substitution exon 1 VAR_037168 Q9BX79:p.Pro90Leu SP substitution exon 1 VAR_037169 Q9BX79:p.Pro293Leu SP substitution exon 1 VAR_037170 Q9BX79:p.Thr321Pro SP substitution exon 1 VAR_037171 Q9BX79:p.Gly339Ser SP substitution exon 1 VAR_037172 Q9BX79:p.Leu517Phe SP substitution exon 1 VAR_037173 Q9BX79:p.Met527Ile SP substitution exon 1 VAR_037176 Q8NHS3:p.Val109Gly SP substitution exon 1 VAR_037177 Q8NHS3:p.Gly310Asp SP substitution exon 1 VAR_037178 Q8NHS3:p.Gly385Arg SP substitution exon 1 VAR_037179 Q8NHS3:p.Ala423Val SP substitution exon 1 VAR_037180 Q8NHS3:p.Gly429Asp SP substitution exon 1 VAR_037188 Q86VM9:p.Ala368Thr SP substitution exon 1 VAR_037189 Q86VM9:p.Arg440His SP substitution exon 1 VAR_037190 Q9P206:p.Pro57Ser SP substitution exon 1 VAR_037191 Q9P206:p.Ser114Pro SP substitution exon 1 VAR_037192 Q9P206:p.Met232Val SP substitution exon 1 VAR_037193 Q9P206:p.Leu310Ile SP substitution exon 1 VAR_037194 Q9P206:p.Pro770Leu SP substitution exon 1 VAR_037195 Q9P206:p.Glu1021Lys SP substitution exon 1 VAR_037196 Q9P283:p.Gly42Ser SP substitution exon 1 VAR_037197 Q9P283:p.Ile220Thr SP substitution exon 1 VAR_037198 Q9P283:p.Ile223Met SP substitution exon 1 VAR_037199 Q9P283:p.Met742Thr SP substitution exon 1 VAR_037203 Q13018:p.Arg142Gln SP substitution exon 1 VAR_037204 Q13018:p.Pro177Ser SP substitution exon 1 VAR_037205 Q13018:p.Ile279Val SP substitution exon 1 VAR_037206 Q13018:p.Met292Val SP substitution exon 1 VAR_037207 Q13018:p.His300Asp SP substitution exon 1 VAR_037208 Q13018:p.Arg404His SP substitution exon 1 VAR_037209 Q13018:p.Gly1106Ser SP substitution exon 1 VAR_037210 Q17RM4:p.Arg534Gln SP substitution exon 1 VAR_037211 Q2NL82:p.Ser386Gly SP substitution exon 1 VAR_037212 Q2NL82:p.Asn719Ser SP substitution exon 1 VAR_037213 Q2NL82:p.Lys727Gln SP substitution exon 1 VAR_037214 Q2NL82:p.His750Gln SP substitution exon 1 VAR_037215 Q96AA3:p.Ala185Thr SP substitution exon 1 VAR_037216 Q8WVE0:p.Thr193Asn SP substitution exon 1 VAR_037217 Q9HC36:p.Ala8Ser SP substitution exon 1 VAR_037218 Q9HC36:p.Gly45Glu SP substitution exon 1 VAR_037219 Q9HC36:p.Ile185Val SP substitution exon 1 VAR_037220 Q9HC36:p.Glu326Gln SP substitution exon 1 VAR_037221 Q8TDV5:p.Ser309Leu SP substitution exon 1 VAR_037222 Q8TBZ6:p.Pro82Gln SP substitution exon 1 VAR_037223 Q8TBZ6:p.Arg133Gln SP substitution exon 1 VAR_037224 Q6PF06:p.Val234Gly SP substitution exon 1 VAR_037225 Q6PF06:p.Val242Ala SP substitution exon 1 VAR_037226 A6NJG6:p.Arg145Gln SP substitution exon 1 VAR_037227 Q6XYB7:p.Ser158Phe SP substitution exon 1 VAR_037228 Q9HB31:p.Leu207Ser SP substitution exon 1 VAR_037229 Q96P16:p.Gln21His SP substitution exon 1 VAR_037230 Q7Z3J2:p.Tyr32Cys SP substitution exon 1 VAR_037231 Q7Z3J2:p.Asn186Ile SP substitution exon 1 VAR_037232 Q7Z3J2:p.Ala506Val SP substitution exon 1 VAR_037233 Q6NUJ5:p.Arg89Cys SP substitution exon 1 VAR_037234 Q6NUJ5:p.Arg98Gly SP substitution exon 1 VAR_037235 Q96QD8:p.Asn48Lys SP substitution exon 1 VAR_037236 Q66K74:p.Ser411Cys SP substitution exon 1 VAR_037237 Q66K74:p.Pro538Gln SP substitution exon 1 VAR_037238 Q7Z4H3:p.Arg64Cys SP substitution exon 1 VAR_037245 A1L4L8:p.Cys11Ser SP substitution exon 1 VAR_037246 Q6UX06:p.Ser36Pro SP substitution exon 1 VAR_037247 Q8IZM9:p.Leu70Met SP substitution exon 1 VAR_037248 Q68BL8:p.Tyr10Cys SP substitution exon 1 VAR_037249 Q68BL8:p.Trp470Arg SP substitution exon 1 VAR_037250 Q68BL7:p.Thr309Ala SP substitution exon 1 VAR_037251 Q68BL7:p.Arg425Gln SP substitution exon 1 VAR_037252 Q9Y617:p.Asp100Ala SP substitution exon 1 VAR_037253 O95486:p.Ser261Gly SP substitution exon 1 VAR_037254 O95486:p.Thr302Ile SP substitution exon 1 VAR_037255 O95486:p.Thr396Met SP substitution exon 1 VAR_037257 Q9P2P6:p.Arg1172Cys SP substitution exon 1 VAR_037258 Q9P2P6:p.Pro1720Leu SP substitution exon 1 VAR_037259 Q9P2P6:p.Ala2205Val SP substitution exon 1 VAR_037260 Q9P2P6:p.Arg2677His SP substitution exon 1 VAR_037261 Q9P2P6:p.Thr2855Ile SP substitution exon 1 VAR_037262 Q9P2P6:p.Pro2869Ser SP substitution exon 1 VAR_037263 Q9P2P6:p.Arg3015Gly SP substitution exon 1 VAR_037264 Q9P2P6:p.Asn3383Asp SP substitution exon 1 VAR_037266 Q9P2P6:p.Tyr3469Cys SP substitution exon 1 VAR_037267 Q6NXP2:p.Pro112Thr SP substitution exon 1 VAR_037268 Q6NXP2:p.Asp114Val SP substitution exon 1 VAR_037269 Q6NXP2:p.Arg136Trp SP substitution exon 1 VAR_037270 Q6NXP2:p.Ile251Val SP substitution exon 1 VAR_037271 Q96KD3:p.Ser228Leu SP substitution exon 1 VAR_037272 Q96KD3:p.Glu242Lys SP substitution exon 1 VAR_037273 O14795:p.Asp238Glu SP substitution exon 1 VAR_037274 O14795:p.Glu1232Asp SP substitution exon 1 VAR_037275 Q99759:p.Ala325Gly SP substitution exon 1 VAR_037276 Q99759:p.Ala435Gly SP substitution exon 1 VAR_037277 Q9P275:p.Val271Ile SP substitution exon 1 VAR_037278 Q9P275:p.Ile489Met SP substitution exon 1 VAR_037284 P59894:p.Glu7Gly SP substitution exon 1 VAR_037285 Q8N8J6:p.Thr129Met SP substitution exon 1 VAR_037286 Q8N8J6:p.Thr360Ile SP substitution exon 1 VAR_037287 Q8N8J6:p.Arg727Lys SP substitution exon 1 VAR_037288 P07814:p.Ala296Pro SP substitution exon 1 VAR_037289 P07814:p.Asp308Glu SP substitution exon 1 VAR_037290 P07814:p.Gln334His SP substitution exon 1 VAR_037295 P35237:p.Met90Val SP substitution exon 1 VAR_037296 P35237:p.Gly153Ser SP substitution exon 1 VAR_037300 P43034:p.Arg241Pro SP substitution exon 1 VAR_037301 P43034:p.His277Pro SP substitution exon 1 VAR_037302 Q7Z406:p.Ser120Leu SP substitution exon 1 VAR_037304 Q30201:p.Gln283Pro SP substitution exon 1 VAR_037305 Q92793:p.Tyr1175Cys SP substitution exon 1 VAR_037306 P31513:p.Glu32Lys SP substitution exon 1 VAR_037307 P31513:p.Asn61Ser SP substitution exon 1 VAR_037308 P31513:p.Met434Ile SP substitution exon 1 VAR_037309 Q13751:p.Asn181Asp SP substitution exon 1 VAR_037310 Q13751:p.Gly199Ala SP substitution exon 1 VAR_037311 Q13751:p.Lys207Gln SP substitution exon 1 VAR_037312 Q13751:p.Arg292Leu SP substitution exon 1 VAR_037313 Q13751:p.Val527Met SP substitution exon 1 VAR_037314 Q13751:p.Ala926Asp SP substitution exon 1 VAR_037317 P12271:p.Met226Lys SP substitution exon 1 VAR_037318 O60931:p.Gly110Val SP substitution exon 1 VAR_037319 O60931:p.Asn177Thr SP substitution exon 1 VAR_037320 O60931:p.Pro200Leu SP substitution exon 1 VAR_037325 Q9H3J6:p.Ala134Thr SP substitution exon 1 VAR_037326 Q8IXT1:p.Ile217Thr SP substitution exon 1 VAR_037327 Q8IXT1:p.Arg460Ser SP substitution exon 1 VAR_037331 Q6ZVZ8:p.Ala127Pro SP substitution exon 1 VAR_037332 Q2PZI1:p.Gly502Val SP substitution exon 1 VAR_037333 Q6NUT2:p.Met37Val SP substitution exon 1 VAR_037334 Q6NUT2:p.Ala41Val SP substitution exon 1 VAR_037335 Q6NUT2:p.Ser51Ala SP substitution exon 1 VAR_037336 Q6ZPD9:p.Met350Val SP substitution exon 1 VAR_037337 A1L157:p.Val190Ala SP substitution exon 1 VAR_037338 Q8N309:p.Gln256Lys SP substitution exon 1 VAR_037339 A7MD48:p.Ser243Asn SP substitution exon 1 VAR_037340 A7MD48:p.Arg406Gln SP substitution exon 1 VAR_037341 A7MD48:p.Arg547Ser SP substitution exon 1 VAR_037342 A6NH00:p.Gly39Ser SP substitution exon 1 VAR_037343 A6NH00:p.Trp49Arg SP substitution exon 1 VAR_037344 A6NH00:p.Thr179Ala SP substitution exon 1 VAR_037345 A6NH00:p.Met197Arg SP substitution exon 1 VAR_037346 A6NH00:p.Ala221Ser SP substitution exon 1 VAR_037347 A6NH00:p.Arg305Trp SP substitution exon 1 VAR_037348 Q6UX07:p.Arg191Gln SP substitution exon 1 VAR_037350 A2A368:p.Leu38Phe SP substitution exon 1 VAR_037351 A2A368:p.Cys128Tyr SP substitution exon 1 VAR_037352 A2A368:p.His161Arg SP substitution exon 1 VAR_037353 A2A368:p.Met248Val SP substitution exon 1 VAR_037354 A2A368:p.Met248Lys SP substitution exon 1 VAR_037355 Q96GJ1:p.Ser12Arg SP substitution exon 1 VAR_037357 B2RC85:p.Glu836Lys SP substitution exon 1 VAR_037358 Q86VL8:p.Gly429Arg SP substitution exon 1 VAR_037359 Q8N412:p.Cys111Trp SP substitution exon 1 VAR_037360 Q8N412:p.Phe112Val SP substitution exon 1 VAR_037361 Q8N412:p.Tyr125His SP substitution exon 1 VAR_037362 Q8N412:p.Ile178Val SP substitution exon 1 VAR_037363 Q8N412:p.Lys279Arg SP substitution exon 1 VAR_037364 Q8N412:p.Val420Ala SP substitution exon 1 VAR_037365 P40763:p.Arg382Leu SP substitution exon 1 VAR_037366 P40763:p.Arg382Gln SP substitution exon 1 VAR_037367 P40763:p.Arg382Trp SP substitution exon 1 VAR_037368 P40763:p.Phe384Leu SP substitution exon 1 VAR_037369 P40763:p.Phe384Ser SP substitution exon 1 VAR_037370 P40763:p.Thr389Ile SP substitution exon 1 VAR_037371 P40763:p.Arg423Gln SP substitution exon 1 VAR_037372 P40763:p.His437Tyr SP substitution exon 1 VAR_037374 P40763:p.Phe561Tyr SP substitution exon 1 VAR_037375 P40763:p.Ser611Asn SP substitution exon 1 VAR_037376 P40763:p.Phe621Val SP substitution exon 1 VAR_037377 P40763:p.Thr622Ile SP substitution exon 1 VAR_037378 P40763:p.Val637Leu SP substitution exon 1 VAR_037379 P40763:p.Val637Met SP substitution exon 1 VAR_037381 P40763:p.Tyr657Cys SP substitution exon 1 VAR_037382 Q7Z4J2:p.His195Arg SP substitution exon 1 VAR_037383 Q7Z4J2:p.Pro219Ser SP substitution exon 1 VAR_037385 A6NER3:p.Tyr9Cys SP substitution exon 1 VAR_037386 A6NER3:p.Arg13Ser SP substitution exon 1 VAR_037387 A6NER3:p.Pro16Arg SP substitution exon 1 VAR_037388 Q96M86:p.Arg3830His SP substitution exon 1 VAR_037389 Q96M86:p.Ile4666Thr SP substitution exon 1 VAR_037390 Q6ZR08:p.Tyr2740Phe SP substitution exon 1 VAR_037391 Q6ZR08:p.Gly2893Ser SP substitution exon 1 VAR_037392 Q9P2D3:p.Ser1601Pro SP substitution exon 1 VAR_037393 A6NHG9:p.Gly64Arg SP substitution exon 1 VAR_037394 A6NHG9:p.Tyr189Cys SP substitution exon 1 VAR_037395 Q6PKH6:p.Leu17Met SP substitution exon 1 VAR_037403 Q49A26:p.Asn103Asp SP substitution exon 1 VAR_037404 Q49A26:p.His459Gln SP substitution exon 1 VAR_037405 Q49A26:p.Tyr531Cys SP substitution exon 1 VAR_037419 Q5VT97:p.Ile484Met SP substitution exon 1 VAR_037420 Q5VT97:p.Val569Ile SP substitution exon 1 VAR_037421 Q5VT97:p.Val1157Ile SP substitution exon 1 VAR_037422 Q9H7H0:p.Gly289Ala SP substitution exon 1 VAR_037423 Q9H7H0:p.Ala346Pro SP substitution exon 1 VAR_037424 O14788:p.Met199Lys SP substitution exon 1 VAR_037425 O00499:p.Lys35Asn SP substitution exon 1 VAR_037426 O00499:p.Asp151Asn SP substitution exon 1 VAR_037427 P51798:p.Ile261Phe SP substitution exon 1 VAR_037428 Q92851:p.Met147Thr SP substitution exon 1 VAR_037429 Q92851:p.Ile406Leu SP substitution exon 1 VAR_037430 Q92851:p.Ala414Val SP substitution exon 1 VAR_037431 Q92851:p.Tyr446Cys SP substitution exon 1 VAR_037432 P22413:p.Asn179Ser SP substitution exon 1 VAR_037433 P22413:p.Gly342Val SP substitution exon 1 VAR_037434 P22413:p.Tyr371Phe SP substitution exon 1 VAR_037435 P22413:p.Arg886Thr SP substitution exon 1 VAR_037438 Q9Y6D5:p.Glu209Lys SP substitution exon 1 VAR_037441 Q6NT55:p.Phe59Leu SP substitution exon 1 VAR_037442 Q6NT55:p.Arg243His SP substitution exon 1 VAR_037443 Q6NT55:p.Arg372Trp SP substitution exon 1 VAR_037444 Q6NT55:p.His435Tyr SP substitution exon 1 VAR_037445 Q6NT55:p.His436Asp SP substitution exon 1 VAR_037446 Q8N302:p.Thr180Ala SP substitution exon 1 VAR_037447 Q8N302:p.Leu471Pro SP substitution exon 1 VAR_037448 A6NMS3:p.Ile206Val SP substitution exon 1 VAR_037449 Q8IYW4:p.Ile109Thr SP substitution exon 1 VAR_037450 Q15043:p.Leu33Pro SP substitution exon 1 VAR_037451 A5D8V6:p.Val182Asp SP substitution exon 1 VAR_037452 A5D8V6:p.Leu198Ser SP substitution exon 1 VAR_037453 A5D8V6:p.Ser261Ala SP substitution exon 1 VAR_037454 O14498:p.Asp183Asn SP substitution exon 1 VAR_037455 A2A3K4:p.Leu571Gln SP substitution exon 1 VAR_037456 Q5VVW2:p.His108Arg SP substitution exon 1 VAR_037457 Q5VVW2:p.Ala752Ser SP substitution exon 1 VAR_037458 Q8TAQ9:p.Ile127Val SP substitution exon 1 VAR_037459 Q8TAQ9:p.Leu177Val SP substitution exon 1 VAR_037460 Q9BSA4:p.Pro11His SP substitution exon 1 VAR_037461 Q9BSA4:p.His85Asp SP substitution exon 1 VAR_037462 Q9BSA4:p.Ala262Thr SP substitution exon 1 VAR_037463 Q9BSA4:p.Ser265Ala SP substitution exon 1 VAR_037464 Q9BSA4:p.Thr419Ile SP substitution exon 1 VAR_037465 Q9BSA4:p.Asp423Glu SP substitution exon 1 VAR_037466 Q9Y646:p.Ser138Asn SP substitution exon 1 VAR_037467 Q5H9F3:p.Gly209Ser SP substitution exon 1 VAR_037468 Q5H9F3:p.Gly832Asp SP substitution exon 1 VAR_037469 Q53SZ7:p.Arg194Gly SP substitution exon 1 VAR_037470 Q53SZ7:p.Arg222Cys SP substitution exon 1 VAR_037471 Q2TAM9:p.Asn123Asp SP substitution exon 1 VAR_037472 O95264:p.Tyr129Ser SP substitution exon 1 VAR_037473 O95264:p.Ile143Thr SP substitution exon 1 VAR_037474 O95264:p.Ser156Arg SP substitution exon 1 VAR_037475 O95264:p.Val183Ile SP substitution exon 1 VAR_037476 Q8WXA8:p.Asn163Lys SP substitution exon 1 VAR_037477 Q8WXA8:p.Gly405Ala SP substitution exon 1 VAR_037478 Q70Z44:p.Ala171Gly SP substitution exon 1 VAR_037479 Q70Z44:p.Arg225His SP substitution exon 1 VAR_037480 Q70Z44:p.Arg435His SP substitution exon 1 VAR_037481 A5X5Y0:p.Ala71Thr SP substitution exon 1 VAR_037482 A5X5Y0:p.Ala430Thr SP substitution exon 1 VAR_037483 Q86T90:p.Arg383Cys SP substitution exon 1 VAR_037484 Q96H72:p.Glu28Gly SP substitution exon 1 VAR_037485 Q96H72:p.Pro346Leu SP substitution exon 1 VAR_037486 Q6P9G0:p.Phe20Leu SP substitution exon 1 VAR_037487 Q8WUJ1:p.Arg7Gly SP substitution exon 1 VAR_037488 Q8WUJ1:p.Arg7Pro SP substitution exon 1 VAR_037489 Q13137:p.Gly140Glu SP substitution exon 1 VAR_037490 Q13137:p.Gly227Arg SP substitution exon 1 VAR_037491 Q13137:p.Val248Ala SP substitution exon 1 VAR_037492 Q13137:p.Thr273Ala SP substitution exon 1 VAR_037494 Q9Y3M8:p.Thr175Met SP substitution exon 1 VAR_037495 Q9Y3M8:p.Arg383Pro SP substitution exon 1 VAR_037497 A6NM03:p.Tyr28Cys SP substitution exon 1 VAR_037498 A6NM03:p.Arg54Pro SP substitution exon 1 VAR_037499 A6NM03:p.Arg87Leu SP substitution exon 1 VAR_037500 A6NM03:p.Arg299Gly SP substitution exon 1 VAR_037501 Q99873:p.Lys78Met SP substitution exon 1 VAR_037502 Q99873:p.Leu158Phe SP substitution exon 1 VAR_037503 Q7L5A8:p.Pro97Ala SP substitution exon 1 VAR_037504 Q5VT99:p.Leu276Phe SP substitution exon 1 VAR_037505 Q5VT99:p.Lys292Glu SP substitution exon 1 VAR_037506 A6NGY5:p.Thr20Ala SP substitution exon 1 VAR_037507 A6NGY5:p.Phe73Ser SP substitution exon 1 VAR_037508 A6NGY5:p.Arg74Met SP substitution exon 1 VAR_037509 A6NGY5:p.His232Arg SP substitution exon 1 VAR_037510 A6NGY5:p.Asp301Tyr SP substitution exon 1 VAR_037511 Q9UPV0:p.Ser94Asn SP substitution exon 1 VAR_037512 Q9UPV0:p.Thr988Ser SP substitution exon 1 VAR_037513 Q9UPV0:p.Gln1119Arg SP substitution exon 1 VAR_037516 Q504Y0:p.Ser36Gly SP substitution exon 1 VAR_037517 Q504Y0:p.Thr244Met SP substitution exon 1 VAR_037518 Q504Y0:p.Val304Ile SP substitution exon 1 VAR_037519 Q504Y0:p.Phe435Leu SP substitution exon 1 VAR_037520 Q504Y0:p.Pro471Thr SP substitution exon 1 VAR_037521 Q7Z418:p.Phe58Tyr SP substitution exon 1 VAR_037522 Q7Z418:p.Ala198Gly SP substitution exon 1 VAR_037523 Q7Z418:p.Ser231Pro SP substitution exon 1 VAR_037524 Q7Z418:p.Ala233Val SP substitution exon 1 VAR_037525 Q7Z418:p.Glu255Lys SP substitution exon 1 VAR_037526 Q7Z418:p.Val346Ile SP substitution exon 1 VAR_037527 Q6UVM3:p.Val33Ile SP substitution exon 1 VAR_037528 Q6UVM3:p.Cys413Trp SP substitution exon 1 VAR_037529 Q6UVM3:p.Lys429Asn SP substitution exon 1 VAR_037530 Q8IXL6:p.Gly379Glu SP substitution exon 1 VAR_037531 Q8IXL6:p.Gly379Arg SP substitution exon 1 VAR_037532 Q8IXL6:p.Leu388Arg SP substitution exon 1 VAR_037533 Q8IXL6:p.Arg549Trp SP substitution exon 1 VAR_037534 Q93074:p.Asn1007Ser SP substitution exon 1 VAR_037535 Q6ZVH7:p.Arg167Gln SP substitution exon 1 VAR_037536 Q6ZVH7:p.Ile568Val SP substitution exon 1 VAR_037537 Q6ZVH7:p.Ala574Ser SP substitution exon 1 VAR_037538 Q6ZVH7:p.Val761Ala SP substitution exon 1 VAR_037539 Q6ZVH7:p.Gln829Arg SP substitution exon 1 VAR_037543 A4D1E9:p.Cys88Trp SP substitution exon 1 VAR_037544 A4D1E9:p.Asn110Ser SP substitution exon 1 VAR_037545 A4D1E9:p.Leu164Phe SP substitution exon 1 VAR_037547 P08684:p.Lys96Glu SP substitution exon 1 VAR_037548 P08684:p.Ser252Ala SP substitution exon 1 VAR_037549 P08684:p.Thr349Asn SP substitution exon 1 VAR_037550 P08684:p.Ile431Thr SP substitution exon 1 VAR_037551 Q9C0K1:p.Ala391Thr SP substitution exon 1 VAR_037552 Q8WXA8:p.Val128Met SP substitution exon 1 VAR_037553 Q684P5:p.Leu202Met SP substitution exon 1 VAR_037554 Q96KR1:p.Val461Ile SP substitution exon 1 VAR_037555 Q96KR1:p.Ile520Thr SP substitution exon 1 VAR_037556 Q9H040:p.Pro296Leu SP substitution exon 1 VAR_037557 Q86VV4:p.Thr70Arg SP substitution exon 1 VAR_037558 Q86VV4:p.Ala111Asp SP substitution exon 1 VAR_037559 Q86VV4:p.Ala271Val SP substitution exon 1 VAR_037560 Q9H0K4:p.Ala50Val SP substitution exon 1 VAR_037561 Q9P267:p.Thr144Ile SP substitution exon 1 VAR_037562 Q9P267:p.Arg461His SP substitution exon 1 VAR_037563 Q9P267:p.Asp654Glu SP substitution exon 1 VAR_037564 Q9P267:p.Ala655Thr SP substitution exon 1 VAR_037565 Q9P267:p.Ser677Asn SP substitution exon 1 VAR_037566 Q9P267:p.Ala857Thr SP substitution exon 1 VAR_037567 Q9P267:p.Thr1048Ile SP substitution exon 1 VAR_037568 Q13394:p.Ser70Pro SP substitution exon 1 VAR_037569 Q5SZK8:p.Ile1045Ser SP substitution exon 1 VAR_037570 Q5SZK8:p.Arg1668His SP substitution exon 1 VAR_037571 Q5SZK8:p.Ala2962Val SP substitution exon 1 VAR_037572 O14773:p.Ser62Leu SP substitution exon 1 VAR_037573 O14773:p.Arg185Cys SP substitution exon 1 VAR_037574 Q8WTS1:p.Ile72Thr SP substitution exon 1 VAR_037576 P51659:p.Gly16Ser SP substitution exon 1 VAR_037577 P41181:p.Leu121Phe SP substitution exon 1 VAR_037578 P40200:p.Thr280Met SP substitution exon 1 VAR_037579 Q9H444:p.Asp129Val SP substitution exon 1 VAR_037580 Q9H444:p.Glu161Lys SP substitution exon 1 VAR_037581 Q99217:p.Trp4Ser SP substitution exon 1 VAR_037582 Q99217:p.Thr37Ile SP substitution exon 1 VAR_037583 Q99217:p.Pro56Thr SP substitution exon 1 VAR_037584 O00294:p.Phe382Ser SP substitution exon 1 VAR_037585 P31213:p.Leu224Met SP substitution exon 1 VAR_037586 P31213:p.Arg227Gln SP substitution exon 1 VAR_037587 Q96FL8:p.Val338Ile SP substitution exon 1 VAR_037588 A4D0S4:p.Met44Thr SP substitution exon 1 VAR_037589 A4D0S4:p.His234Tyr SP substitution exon 1 VAR_037590 A4D0S4:p.Val591Phe SP substitution exon 1 VAR_037591 A4D0S4:p.Asn866Ser SP substitution exon 1 VAR_037592 A4D0S4:p.Thr1350Asn SP substitution exon 1 VAR_037593 A4D0S4:p.His1510Tyr SP substitution exon 1 VAR_037594 A4D0S4:p.Arg1612Ser SP substitution exon 1 VAR_037595 O14827:p.Arg114His SP substitution exon 1 VAR_037596 O14827:p.Asp538Asn SP substitution exon 1 VAR_037597 O14827:p.Leu713Trp SP substitution exon 1 VAR_037598 O14827:p.Asp1216Glu SP substitution exon 1 VAR_037599 Q9BRY0:p.Phe100Leu SP substitution exon 1 VAR_037600 Q9BRY0:p.Pro257Leu SP substitution exon 1 VAR_037601 Q5VWI1:p.Pro339Gln SP substitution exon 1 VAR_037602 Q5VWI1:p.Lys437Thr SP substitution exon 1 VAR_037603 Q5VWI1:p.Glu529Lys SP substitution exon 1 VAR_037604 Q5VWI1:p.Gln566Lys SP substitution exon 1 VAR_037605 Q13253:p.Trp205Cys SP substitution exon 1 VAR_037606 Q0VF96:p.Thr380Pro SP substitution exon 1 VAR_037607 Q0VF96:p.Ser459Phe SP substitution exon 1 VAR_037608 Q0VF96:p.Thr511Ala SP substitution exon 1 VAR_037609 Q0VF96:p.Leu1101Val SP substitution exon 1 VAR_037610 Q0VF96:p.Met1270Val SP substitution exon 1 VAR_037611 P11086:p.Ser188Cys SP substitution exon 1 VAR_037612 P11086:p.Leu211His SP substitution exon 1 VAR_037613 P11086:p.Leu217Gln SP substitution exon 1 VAR_037614 P11086:p.Arg254His SP substitution exon 1 VAR_037615 Q9BT04:p.Ala34Ser SP substitution exon 1 VAR_037616 Q9BT04:p.Gly175Asp SP substitution exon 1 VAR_037617 Q9BT04:p.Thr400Ile SP substitution exon 1 VAR_037618 Q9H2A2:p.Phe402Ser SP substitution exon 1 VAR_037619 Q16518:p.Arg515Trp SP substitution exon 1 VAR_037620 P21912:p.Ser100Phe SP substitution exon 1 VAR_037621 P21912:p.His132Pro SP substitution exon 1 VAR_037622 O75161:p.Leu939Gln SP substitution exon 1 VAR_037623 O75161:p.Arg959Gln SP substitution exon 1 VAR_037624 Q14114:p.Val453Met SP substitution exon 1 VAR_037625 Q14114:p.Trp466Cys SP substitution exon 1 VAR_037626 Q14114:p.Gln607Arg SP substitution exon 1 VAR_037627 Q14114:p.Ile611Leu SP substitution exon 1 VAR_037628 Q14114:p.Ser653Thr SP substitution exon 1 VAR_037629 Q9NS56:p.Ala154Thr SP substitution exon 1 VAR_037630 Q9NS56:p.Glu517Lys SP substitution exon 1 VAR_037631 Q9NS56:p.Asn749Asp SP substitution exon 1 VAR_037632 Q9NS56:p.Pro812Arg SP substitution exon 1 VAR_037634 Q14957:p.Arg1209Ser SP substitution exon 1 VAR_037635 O76039:p.Pro180Leu SP substitution exon 1 VAR_037636 O76039:p.Val793Ala SP substitution exon 1 VAR_037638 Q8IZ83:p.Glu110Lys SP substitution exon 1 VAR_037639 Q8IZ83:p.Leu227Val SP substitution exon 1 VAR_037640 Q96KN9:p.Arg269His SP substitution exon 1 VAR_037641 Q96KN9:p.Gly271Arg SP substitution exon 1 VAR_037642 P48165:p.Val64Gly SP substitution exon 1 VAR_037646 Q9UKF6:p.Glu142Gly SP substitution exon 1 VAR_037647 Q86YW9:p.Gln401Pro SP substitution exon 1 VAR_037648 Q86YW9:p.Glu464Lys SP substitution exon 1 VAR_037649 Q86YW9:p.Gln903His SP substitution exon 1 VAR_037650 Q86YW9:p.Arg1210Gln SP substitution exon 1 VAR_037651 Q86YW9:p.Arg1698Gln SP substitution exon 1 VAR_037652 Q8IUD6:p.Arg286His SP substitution exon 1 VAR_037653 Q76EJ3:p.Ala184Ser SP substitution exon 1 VAR_037654 O60303:p.Thr522Met SP substitution exon 1 VAR_037655 O60303:p.Ala535Ser SP substitution exon 1 VAR_037656 O60303:p.Arg885Gln SP substitution exon 1 VAR_037657 O60303:p.Ala1267Thr SP substitution exon 1 VAR_037658 O60303:p.Arg1368Gln SP substitution exon 1 VAR_037659 O60303:p.Val1597Ile SP substitution exon 1 VAR_037660 Q9P260:p.Gly929Glu SP substitution exon 1 VAR_037661 O14948:p.Gln6His SP substitution exon 1 VAR_037662 O14948:p.Gly100Ser SP substitution exon 1 VAR_037663 O14948:p.Leu146Val SP substitution exon 1 VAR_037664 P51608:p.Pro225Leu SP substitution exon 1 VAR_037665 P51608:p.Pro322Ser SP substitution exon 1 VAR_037666 Q9BZI7:p.Tyr160Asp SP substitution exon 1 VAR_037667 P18206:p.Val234Leu SP substitution exon 1 VAR_037668 O00206:p.Leu385Phe SP substitution exon 1 VAR_037670 Q2HXU8:p.Thr6Asn SP substitution exon 1 VAR_037671 Q2HXU8:p.Val116Leu SP substitution exon 1 VAR_037672 Q96JM4:p.Ile29Asn SP substitution exon 1 VAR_037673 Q96JM4:p.Cys83Tyr SP substitution exon 1 VAR_037674 Q96JM4:p.Ala912Thr SP substitution exon 1 VAR_037675 Q6P9B6:p.Arg10Leu SP substitution exon 1 VAR_037676 Q6P9B6:p.His97Gln SP substitution exon 1 VAR_037677 Q6P9B6:p.Asp172Glu SP substitution exon 1 VAR_037678 Q6P9B6:p.Ile220Val SP substitution exon 1 VAR_037679 Q6P9B6:p.Glu233Asp SP substitution exon 1 VAR_037680 Q6P9B6:p.Cys267Arg SP substitution exon 1 VAR_037681 Q6P9B6:p.Ser443Leu SP substitution exon 1 VAR_037682 Q5VZ46:p.His214Tyr SP substitution exon 1 VAR_037683 Q5VZ46:p.Arg740Trp SP substitution exon 1 VAR_037684 Q5VZ46:p.Leu801Phe SP substitution exon 1 VAR_037686 Q6UX04:p.Pro256Ala SP substitution exon 1 VAR_037687 Q8N8V2:p.Thr14Ile SP substitution exon 1 VAR_037688 Q8N8V2:p.Gly618Arg SP substitution exon 1 VAR_037689 Q53RD9:p.Val119Met SP substitution exon 1 VAR_037690 Q7L4E1:p.Glu78Lys SP substitution exon 1 VAR_037691 Q7L4E1:p.Val100Ala SP substitution exon 1 VAR_037692 Q7L4E1:p.Gly212Ser SP substitution exon 1 VAR_037693 Q3SXM5:p.Pro248Ser SP substitution exon 1 VAR_037694 Q3SXM5:p.Ser327Cys SP substitution exon 1 VAR_037695 Q8N344:p.Asp68Asn SP substitution exon 1 VAR_037696 Q8N344:p.Asp104Asn SP substitution exon 1 VAR_037697 Q8N344:p.Pro464Ser SP substitution exon 1 VAR_037698 Q8N344:p.Ser485Gly SP substitution exon 1 VAR_037699 Q7Z3K6:p.Asp126Gly SP substitution exon 1 VAR_037700 Q7Z3K6:p.Asn414Lys SP substitution exon 1 VAR_037701 Q7Z3K6:p.Asn432Asp SP substitution exon 1 VAR_037703 O95996:p.Ala562Ser SP substitution exon 1 VAR_037704 O95996:p.Gly2003Ser SP substitution exon 1 VAR_037705 O95996:p.Ser2241Ala SP substitution exon 1 VAR_037706 A6NHL2:p.Gln135His SP substitution exon 1 VAR_037707 A6NHL2:p.Arg250Trp SP substitution exon 1 VAR_037708 Q8N815:p.Thr145Pro SP substitution exon 1 VAR_037709 Q8HWS3:p.Glu6Lys SP substitution exon 1 VAR_037710 Q8HWS3:p.Thr688Ala SP substitution exon 1 VAR_037711 Q8HWS3:p.Ser743Asn SP substitution exon 1 VAR_037712 Q9P035:p.Glu56Lys SP substitution exon 1 VAR_037713 Q9P035:p.Met269Leu SP substitution exon 1 VAR_037714 Q5VWC8:p.Thr36Ala SP substitution exon 1 VAR_037715 Q5TD94:p.Thr149Ser SP substitution exon 1 VAR_037716 Q5TD94:p.Arg556His SP substitution exon 1 VAR_037717 Q5TD94:p.Leu589Pro SP substitution exon 1 VAR_037718 Q5TD94:p.Asn627His SP substitution exon 1 VAR_037719 Q5TD94:p.Ala700Val SP substitution exon 1 VAR_037720 Q86UC2:p.Asn201Ser SP substitution exon 1 VAR_037721 Q86UC2:p.Arg213Gln SP substitution exon 1 VAR_037722 Q86UC2:p.Arg398Gln SP substitution exon 1 VAR_037723 Q86UC2:p.Met439Thr SP substitution exon 1 VAR_037724 Q86UC2:p.Glu484Lys SP substitution exon 1 VAR_037725 Q86UC2:p.Gly518Asp SP substitution exon 1 VAR_037726 Q9NUJ3:p.His109Gln SP substitution exon 1 VAR_037727 Q9NUJ3:p.Lys178Arg SP substitution exon 1 VAR_037728 Q8N4U5:p.Ala41Thr SP substitution exon 1 VAR_037729 Q8N4U5:p.Ala82Ser SP substitution exon 1 VAR_037730 Q8N4U5:p.Asp261Asn SP substitution exon 1 VAR_037731 Q9BT09:p.Met145Ile SP substitution exon 1 VAR_037733 Q14376:p.Ala25Val SP substitution exon 1 VAR_037734 Q14376:p.Arg40Cys SP substitution exon 1 VAR_037735 Q14376:p.Asp69Glu SP substitution exon 1 VAR_037736 Q14376:p.Glu165Lys SP substitution exon 1 VAR_037737 Q14376:p.Arg169Trp SP substitution exon 1 VAR_037738 Q14376:p.Arg239Trp SP substitution exon 1 VAR_037741 Q53T59:p.Val260Met SP substitution exon 1 VAR_037742 Q53T59:p.Gly273Arg SP substitution exon 1 VAR_037743 Q53T59:p.Pro348Arg SP substitution exon 1 VAR_037744 Q53T59:p.Ala388Thr SP substitution exon 1 VAR_037745 Q14194:p.Val461Ile SP substitution exon 1 VAR_037746 Q7Z2Z2:p.Glu478Asp SP substitution exon 1 VAR_037747 Q7Z2Z2:p.Ile617Val SP substitution exon 1 VAR_037748 Q7Z2Z2:p.Lys711Arg SP substitution exon 1 VAR_037749 Q8NBF2:p.Val314Ile SP substitution exon 1 VAR_037750 Q6ZN66:p.Thr278Ile SP substitution exon 1 VAR_037751 Q6ZN66:p.Ala331Ser SP substitution exon 1 VAR_037752 Q6ZN66:p.Leu344Phe SP substitution exon 1 VAR_037753 Q6ZN66:p.Met355Val SP substitution exon 1 VAR_037755 Q7RTM1:p.Ile241Val SP substitution exon 1 VAR_037756 Q7RTM1:p.Asp309Glu SP substitution exon 1 VAR_037757 Q7RTM1:p.Val434Met SP substitution exon 1 VAR_037758 Q7RTM1:p.Lys493Thr SP substitution exon 1 VAR_037759 Q7RTM1:p.Gln516His SP substitution exon 1 VAR_037760 Q7RTS6:p.Ala392Val SP substitution exon 1 VAR_037761 Q7RTS6:p.Gly465Trp SP substitution exon 1 VAR_037762 Q7RTS5:p.Arg64Gln SP substitution exon 1 VAR_037763 Q7RTS5:p.Arg146Gln SP substitution exon 1 VAR_037764 Q7RTS5:p.Ser199Pro SP substitution exon 1 VAR_037765 Q5TGY3:p.Ala935Thr SP substitution exon 1 VAR_037766 Q8IY47:p.Gln166Lys SP substitution exon 1 VAR_037767 Q8IY47:p.Glu189Gly SP substitution exon 1 VAR_037768 Q8IY47:p.Thr193Pro SP substitution exon 1 VAR_037769 Q8IY47:p.Pro254Arg SP substitution exon 1 VAR_037770 Q8IY47:p.Pro301Arg SP substitution exon 1 VAR_037771 Q8IY47:p.Leu534Ile SP substitution exon 1 VAR_037772 Q8IY47:p.Ser594Tyr SP substitution exon 1 VAR_037773 Q76L83:p.Leu731Pro SP substitution exon 1 VAR_037774 Q76L83:p.Ala796Val SP substitution exon 1 VAR_037775 Q76L83:p.Thr1210Pro SP substitution exon 1 VAR_037776 Q76L83:p.Thr1242Pro SP substitution exon 1 VAR_037778 Q8NG98:p.Asp52Gly SP substitution exon 1 VAR_037779 Q8NG98:p.Ser75Cys SP substitution exon 1 VAR_037780 Q8NG98:p.Pro79Leu SP substitution exon 1 VAR_037781 Q8NG98:p.Ser84Asn SP substitution exon 1 VAR_037782 Q8NG98:p.Arg88Trp SP substitution exon 1 VAR_037783 Q8NG98:p.His131Gln SP substitution exon 1 VAR_037784 Q8NG98:p.Thr133Met SP substitution exon 1 VAR_037785 Q8NG98:p.Met136Ile SP substitution exon 1 VAR_037786 Q8NG98:p.Cys139Arg SP substitution exon 1 VAR_037787 Q8NG98:p.Cys139Tyr SP substitution exon 1 VAR_037788 Q8NG98:p.Leu162Pro SP substitution exon 1 VAR_037789 Q8NG98:p.Ala279Asp SP substitution exon 1 VAR_037790 Q8NG98:p.Leu292Met SP substitution exon 1 VAR_037791 Q60I27:p.Glu45Gln SP substitution exon 1 VAR_037792 Q60I27:p.Gln280Glu SP substitution exon 1 VAR_037793 Q60I27:p.Leu576Phe SP substitution exon 1 VAR_037794 Q9Y6J6:p.Thr8Ile SP substitution exon 1 VAR_037795 Q9Y6J6:p.Arg27Cys SP substitution exon 1 VAR_037796 P29597:p.Arg4Cys SP substitution exon 1 VAR_037797 P29597:p.Ala81Val SP substitution exon 1 VAR_037798 P29597:p.Arg442Gln SP substitution exon 1 VAR_037799 P29597:p.Pro820His SP substitution exon 1 VAR_037800 Q5T160:p.Lys291Arg SP substitution exon 1 VAR_037801 Q5T160:p.Ile331Val SP substitution exon 1 VAR_037802 Q5T160:p.Asp367Gly SP substitution exon 1 VAR_037804 P14923:p.Met697Leu SP substitution exon 1 VAR_037805 Q92685:p.Ile107Val SP substitution exon 1 VAR_037806 Q92685:p.Arg171Gln SP substitution exon 1 VAR_037807 P04049:p.Arg256Ser SP substitution exon 1 VAR_037808 P04049:p.Ser257Leu SP substitution exon 1 VAR_037809 P04049:p.Ser259Phe SP substitution exon 1 VAR_037810 P04049:p.Thr260Ile SP substitution exon 1 VAR_037811 P04049:p.Thr260Arg SP substitution exon 1 VAR_037812 P04049:p.Pro261Ala SP substitution exon 1 VAR_037813 P04049:p.Pro261Leu SP substitution exon 1 VAR_037814 P04049:p.Pro261Ser SP substitution exon 1 VAR_037815 P04049:p.Val263Ala SP substitution exon 1 VAR_037816 P04049:p.Asp486Gly SP substitution exon 1 VAR_037817 P04049:p.Asp486Asn SP substitution exon 1 VAR_037818 P04049:p.Thr491Ile SP substitution exon 1 VAR_037819 P04049:p.Thr491Arg SP substitution exon 1 VAR_037820 P04049:p.Ser612Thr SP substitution exon 1 VAR_037821 P04049:p.Leu613Val SP substitution exon 1 VAR_037834 Q8NGK2:p.Thr139Ile SP substitution exon 1 VAR_037835 Q6ZU80:p.Arg16Leu SP substitution exon 1 VAR_037836 Q6ZU80:p.His732Arg SP substitution exon 1 VAR_037838 Q96MG2:p.Val92Ala SP substitution exon 1 VAR_037839 Q96MG2:p.Arg233Gln SP substitution exon 1 VAR_037840 P50616:p.Lys319Arg SP substitution exon 1 VAR_037842 Q5TC84:p.Ser47Pro SP substitution exon 1 VAR_037844 Q17RS7:p.Ser92Thr SP substitution exon 1 VAR_037845 Q17RS7:p.Asn143Ser SP substitution exon 1 VAR_037846 Q17RS7:p.Ile203Val SP substitution exon 1 VAR_037847 Q17RS7:p.Arg275Leu SP substitution exon 1 VAR_037848 Q17RS7:p.Ser310Asn SP substitution exon 1 VAR_037849 Q17RS7:p.Thr680Ile SP substitution exon 1 VAR_037850 Q17RS7:p.Arg898Cys SP substitution exon 1 VAR_037851 Q8N9N8:p.Asp23Asn SP substitution exon 1 VAR_037852 Q8N9N8:p.Ser159Asn SP substitution exon 1 VAR_037853 Q9HCK1:p.Arg160Lys SP substitution exon 1 VAR_037854 Q9P2D6:p.Ile725Val SP substitution exon 1 VAR_037855 Q9P2D6:p.Pro954Ser SP substitution exon 1 VAR_037856 Q9P2D6:p.Asp1242Gly SP substitution exon 1 VAR_037857 Q9P2P1:p.Thr457Met SP substitution exon 1 VAR_037858 Q9P2P1:p.Ala659Val SP substitution exon 1 VAR_037859 Q9P2P1:p.Ala978Thr SP substitution exon 1 VAR_037860 Q9P2P1:p.Glu997Lys SP substitution exon 1 VAR_037861 Q9P2P1:p.Ile1551Val SP substitution exon 1 VAR_037865 Q5T1C6:p.Leu17Arg SP substitution exon 1 VAR_037866 Q5T1C6:p.Ser38Cys SP substitution exon 1 VAR_037867 Q9P266:p.Glu487Asp SP substitution exon 1 VAR_037868 Q9P266:p.Asp494Asn SP substitution exon 1 VAR_037869 Q9P266:p.Glu729Ala SP substitution exon 1 VAR_037870 Q9P266:p.Arg957Gly SP substitution exon 1 VAR_037871 Q9P266:p.Ser1002Thr SP substitution exon 1 VAR_037872 Q9P266:p.Ala1095Gly SP substitution exon 1 VAR_037873 Q33E94:p.Ser687Asn SP substitution exon 1 VAR_037875 Q7Z429:p.Ser107Asn SP substitution exon 1 VAR_037876 P81408:p.Arg549His SP substitution exon 1 VAR_037877 Q5VW36:p.Leu166Ser SP substitution exon 1 VAR_037878 Q5VW36:p.Val234Ile SP substitution exon 1 VAR_037879 Q5VW36:p.Ile523Val SP substitution exon 1 VAR_037880 Q5VW36:p.Thr718Ser SP substitution exon 1 VAR_037883 P30566:p.Ser31Asn SP substitution exon 1 VAR_037884 P30566:p.Lys147Met SP substitution exon 1 VAR_037885 Q9Y620:p.Asp97His SP substitution exon 1 VAR_037886 P51149:p.Lys32Glu SP substitution exon 1 VAR_037887 P51149:p.Lys157Asn SP substitution exon 1 VAR_037888 P51149:p.Asn161Thr SP substitution exon 1 VAR_037889 O15269:p.Arg151Leu SP substitution exon 1 VAR_037891 Q99835:p.Asp473His SP substitution exon 1 VAR_037892 Q8N157:p.Ile49Asn SP substitution exon 1 VAR_037893 Q8N157:p.Arg548His SP substitution exon 1 VAR_037902 P01011:p.Lys267Arg SP substitution exon 1 VAR_037903 O60733:p.Ser774Thr SP substitution exon 1 VAR_037904 Q15835:p.Pro391His SP substitution exon 1 VAR_037905 P41732:p.Glu53Lys SP substitution exon 1 VAR_037906 P41732:p.Ala127Thr SP substitution exon 1 VAR_037907 P23025:p.Val97Ile SP substitution exon 1 VAR_037908 P07477:p.Asn54Ser SP substitution exon 1 VAR_037909 P07477:p.Glu79Lys SP substitution exon 1 VAR_037910 A3KN83:p.Thr634Ser SP substitution exon 1 VAR_037911 A3KN83:p.Ser728Asn SP substitution exon 1 VAR_037914 P08236:p.Cys38Gly SP substitution exon 1 VAR_037915 P08236:p.Ser52Phe SP substitution exon 1 VAR_037916 P08236:p.Gly136Arg SP substitution exon 1 VAR_037917 P08236:p.Pro148Ser SP substitution exon 1 VAR_037918 P08236:p.Glu150Lys SP substitution exon 1 VAR_037919 P08236:p.Asp152Asn SP substitution exon 1 VAR_037920 P08236:p.Leu176Phe SP substitution exon 1 VAR_037921 P08236:p.Tyr320Cys SP substitution exon 1 VAR_037922 P08236:p.Tyr320Ser SP substitution exon 1 VAR_037923 P08236:p.Lys350Asn SP substitution exon 1 VAR_037924 P08236:p.His351Tyr SP substitution exon 1 VAR_037925 P08236:p.Arg374Cys SP substitution exon 1 VAR_037926 P08236:p.Arg382His SP substitution exon 1 VAR_037927 P08236:p.Pro408Ser SP substitution exon 1 VAR_037928 P08236:p.Pro415Leu SP substitution exon 1 VAR_037929 P08236:p.Arg435Pro SP substitution exon 1 VAR_037930 P08236:p.Arg477Trp SP substitution exon 1 VAR_037931 P08236:p.Tyr495Cys SP substitution exon 1 VAR_037932 P08236:p.Tyr508Cys SP substitution exon 1 VAR_037933 P08236:p.Gly572Asp SP substitution exon 1 VAR_037934 P08236:p.Arg577Leu SP substitution exon 1 VAR_037935 P08236:p.Lys606Asn SP substitution exon 1 VAR_037936 P08236:p.Tyr626His SP substitution exon 1 VAR_037937 P16278:p.Gly134Val SP substitution exon 1 VAR_037939 P16278:p.Leu155Arg SP substitution exon 1 VAR_037940 P16278:p.Leu162Ser SP substitution exon 1 VAR_037942 P16278:p.Ser434Leu SP substitution exon 1 VAR_037943 P16278:p.Asp491Tyr SP substitution exon 1 VAR_037944 P16278:p.Pro549Leu SP substitution exon 1 VAR_037945 P16278:p.Gly554Glu SP substitution exon 1 VAR_037946 P16278:p.Arg590Cys SP substitution exon 1 VAR_037947 P16278:p.Arg595Trp SP substitution exon 1 VAR_037948 Q9NSU2:p.Asp73Asn SP substitution exon 1 VAR_037949 Q9NSU2:p.Ala213Val SP substitution exon 1 VAR_037950 Q9NSU2:p.Gly282Ser SP substitution exon 1 VAR_037951 Q9NSU2:p.Arg295Ser SP substitution exon 1 VAR_037952 Q9NSU2:p.Ala302Pro SP substitution exon 1 VAR_037953 Q9NSU2:p.Glu321Gly SP substitution exon 1 VAR_037954 Q9NSU2:p.Pro345Leu SP substitution exon 1 VAR_037955 Q9NSU2:p.Tyr360Cys SP substitution exon 1 VAR_037956 Q9NSU2:p.Gly361Ala SP substitution exon 1 VAR_037958 P13807:p.Ile108Met SP substitution exon 1 VAR_037959 Q9UKN7:p.Cys1977Arg SP substitution exon 1 VAR_037960 Q9UKN7:p.Gly2018Arg SP substitution exon 1 VAR_037961 Q9UKN7:p.Thr2205Ile SP substitution exon 1 VAR_037962 Q9UKN7:p.Ala2490Thr SP substitution exon 1 VAR_037963 Q9UKN7:p.Tyr2682Phe SP substitution exon 1 VAR_037964 Q9UKN7:p.Gln2716His SP substitution exon 1 VAR_037966 Q16586:p.Glu137Gly SP substitution exon 1 VAR_037967 O00238:p.Arg486Gln SP substitution exon 1 VAR_037968 O95477:p.Asn935His SP substitution exon 1 VAR_037969 O95477:p.Val1054Ile SP substitution exon 1 VAR_037970 O95477:p.Arg1680Trp SP substitution exon 1 VAR_037971 O95477:p.Phe2009Ser SP substitution exon 1 VAR_037972 O75027:p.Val581Ala SP substitution exon 1 VAR_037973 P49638:p.Thr172Ser SP substitution exon 1 VAR_037974 P51690:p.Arg183His SP substitution exon 1 VAR_037975 P51690:p.Gly424Ser SP substitution exon 1 VAR_037976 P23786:p.Asp213Gly SP substitution exon 1 VAR_037977 P43026:p.Arg163Gly SP substitution exon 1 VAR_037978 P43026:p.Met173Val SP substitution exon 1 VAR_037980 P43026:p.Ser439Thr SP substitution exon 1 VAR_037981 P43026:p.His440Leu SP substitution exon 1 VAR_037982 P43026:p.Ser475Asn SP substitution exon 1 VAR_037983 P43026:p.Glu491Lys SP substitution exon 1 VAR_037984 Q7Z7G1:p.Ser65Gly SP substitution exon 1 VAR_037986 Q86UR1:p.Pro286Leu SP substitution exon 1 VAR_037987 Q68DK2:p.Lys429Glu SP substitution exon 1 VAR_037988 Q68DK2:p.Thr898Ser SP substitution exon 1 VAR_037989 Q68DK2:p.Thr951Met SP substitution exon 1 VAR_037990 Q68DK2:p.Ser1071Asn SP substitution exon 1 VAR_037991 Q68DK2:p.Pro1103Leu SP substitution exon 1 VAR_037992 Q68DK2:p.Ala1122Val SP substitution exon 1 VAR_037993 Q68DK2:p.Ala1164Glu SP substitution exon 1 VAR_037994 Q68DK2:p.Cys1457Tyr SP substitution exon 1 VAR_037995 Q68DK2:p.Ser1891Asn SP substitution exon 1 VAR_037996 Q68DK2:p.Arg1945Gln SP substitution exon 1 VAR_037998 P21980:p.Met330Arg SP substitution exon 1 VAR_037999 P21980:p.Ile331Asn SP substitution exon 1 VAR_038000 Q9Y5Q5:p.Cys13Tyr SP substitution exon 1 VAR_038001 Q9Y5Q5:p.His525Arg SP substitution exon 1 VAR_038002 O15393:p.Ser254Cys SP substitution exon 1 VAR_038003 O15393:p.Glu329Gln SP substitution exon 1 VAR_038005 Q9H3S3:p.Asp31Val SP substitution exon 1 VAR_038006 Q9H3S3:p.Arg46Gln SP substitution exon 1 VAR_038007 Q9H3S3:p.Val125Met SP substitution exon 1 VAR_038008 Q9H3S3:p.Ala249Val SP substitution exon 1 VAR_038009 Q9H3S3:p.Ala317Ser SP substitution exon 1 VAR_038010 Q9H3S3:p.Pro337Ser SP substitution exon 1 VAR_038011 Q9H3S3:p.Phe369Leu SP substitution exon 1 VAR_038012 O15360:p.Leu210Arg SP substitution exon 1 VAR_038013 O15360:p.Leu660Pro SP substitution exon 1 VAR_038014 O15360:p.Val761Glu SP substitution exon 1 VAR_038015 O15360:p.Tyr843Asp SP substitution exon 1 VAR_038016 O15360:p.Gln869Pro SP substitution exon 1 VAR_038017 O15360:p.Arg951Gln SP substitution exon 1 VAR_038018 O15360:p.Arg951Trp SP substitution exon 1 VAR_038019 O15360:p.Leu1249Pro SP substitution exon 1 VAR_038020 O15360:p.Ala1346Thr SP substitution exon 1 VAR_038021 O15360:p.Arg1400His SP substitution exon 1 VAR_038022 Q9HB96:p.Pro184Gln SP substitution exon 1 VAR_038023 P40692:p.Gly22Ala SP substitution exon 1 VAR_038024 P40692:p.Gly67Glu SP substitution exon 1 VAR_038025 P40692:p.Pro309Ser SP substitution exon 1 VAR_038026 P43246:p.Arg106Lys SP substitution exon 1 VAR_038027 P43246:p.Pro670Leu SP substitution exon 1 VAR_038032 P52701:p.Lys13Thr SP substitution exon 1 VAR_038033 P52701:p.Ala25Val SP substitution exon 1 VAR_038034 P52701:p.Ser65Leu SP substitution exon 1 VAR_038035 P52701:p.Arg468His SP substitution exon 1 VAR_038036 P52701:p.Ser503Cys SP substitution exon 1 VAR_038037 P52701:p.Tyr538Ser SP substitution exon 1 VAR_038038 P52701:p.Ser580Leu SP substitution exon 1 VAR_038042 O14654:p.Ala20Val SP substitution exon 1 VAR_038043 O14654:p.Gly215Glu SP substitution exon 1 VAR_038044 O14654:p.Gly557Arg SP substitution exon 1 VAR_038045 Q5W186:p.Leu48Phe SP substitution exon 1 VAR_038046 Q96JF0:p.Gly154Arg SP substitution exon 1 VAR_038047 Q96JF0:p.Ile341Val SP substitution exon 1 VAR_038055 Q9H900:p.Ser344Gly SP substitution exon 1 VAR_038056 Q8TF46:p.Ile518Val SP substitution exon 1 VAR_038057 Q8TF46:p.Asp614Gly SP substitution exon 1 VAR_038058 Q8TF46:p.Asn747Ser SP substitution exon 1 VAR_038059 Q8IYB7:p.Pro12Ser SP substitution exon 1 VAR_038060 A6NGE4:p.Arg549Trp SP substitution exon 1 VAR_038061 Q8TER5:p.Val956Leu SP substitution exon 1 VAR_038062 Q8TER5:p.Leu1189Ser SP substitution exon 1 VAR_038063 Q8TER5:p.Met1312Thr SP substitution exon 1 VAR_038064 A1L0T0:p.Asn374Asp SP substitution exon 1 VAR_038065 Q53TN4:p.Met156Thr SP substitution exon 1 VAR_038066 Q53TN4:p.Arg226His SP substitution exon 1 VAR_038067 Q53TN4:p.Ser266Asn SP substitution exon 1 VAR_038068 Q2M2I5:p.Ala115Thr SP substitution exon 1 VAR_038069 Q2M2I5:p.Gly250Asp SP substitution exon 1 VAR_038070 Q2M2I5:p.Met267Ile SP substitution exon 1 VAR_038071 Q2M2I5:p.Arg366Cys SP substitution exon 1 VAR_038072 Q2M2I5:p.Cys415Tyr SP substitution exon 1 VAR_038073 Q2M2I5:p.Trp418Arg SP substitution exon 1 VAR_038074 Q2M2I5:p.Lys429Glu SP substitution exon 1 VAR_038075 Q6A163:p.Thr341Met SP substitution exon 1 VAR_038076 Q6A163:p.Leu383Met SP substitution exon 1 VAR_038077 Q6A163:p.Arg456Gln SP substitution exon 1 VAR_038078 Q6A162:p.Thr37Ala SP substitution exon 1 VAR_038079 Q6A162:p.Phe85Ser SP substitution exon 1 VAR_038080 Q6A162:p.Ser102Asn SP substitution exon 1 VAR_038081 Q6A162:p.Thr153Met SP substitution exon 1 VAR_038082 Q3SY84:p.Val107Ile SP substitution exon 1 VAR_038083 Q3SY84:p.Glu122Lys SP substitution exon 1 VAR_038084 Q3SY84:p.Ile355Phe SP substitution exon 1 VAR_038085 Q3SY84:p.Val464Gly SP substitution exon 1 VAR_038086 Q3SY84:p.Arg523Gln SP substitution exon 1 VAR_038087 Q14CN4:p.Asn171Asp SP substitution exon 1 VAR_038088 Q14CN4:p.Tyr264Cys SP substitution exon 1 VAR_038091 Q86Y46:p.Val61Met SP substitution exon 1 VAR_038092 Q86Y46:p.Pro96Leu SP substitution exon 1 VAR_038093 Q86Y46:p.Arg212His SP substitution exon 1 VAR_038094 Q86Y46:p.Thr248Met SP substitution exon 1 VAR_038095 Q86Y46:p.Glu365Gly SP substitution exon 1 VAR_038096 Q7RTS7:p.Asn165Lys SP substitution exon 1 VAR_038097 Q7RTS7:p.Glu271Asp SP substitution exon 1 VAR_038098 O95678:p.Arg39Cys SP substitution exon 1 VAR_038099 O95678:p.Arg91Gly SP substitution exon 1 VAR_038100 O95678:p.Pro117Ala SP substitution exon 1 VAR_038101 O95678:p.Ala161Thr SP substitution exon 1 VAR_038102 O95678:p.Arg209Gln SP substitution exon 1 VAR_038103 O95678:p.Glu242Gly SP substitution exon 1 VAR_038104 O95678:p.Glu337Lys SP substitution exon 1 VAR_038105 O95678:p.Ile367Val SP substitution exon 1 VAR_038106 O95678:p.Met427Thr SP substitution exon 1 VAR_038107 O95678:p.Arg432Cys SP substitution exon 1 VAR_038108 O95678:p.Ser485Arg SP substitution exon 1 VAR_038109 Q8N1N4:p.Arg25His SP substitution exon 1 VAR_038110 Q8N1N4:p.Leu92Pro SP substitution exon 1 VAR_038111 Q8N1N4:p.Gly224Ala SP substitution exon 1 VAR_038112 Q8N1N4:p.Ala238Thr SP substitution exon 1 VAR_038113 Q5XKE5:p.Leu81Ser SP substitution exon 1 VAR_038114 Q5XKE5:p.Phe195Leu SP substitution exon 1 VAR_038115 Q5XKE5:p.His266Arg SP substitution exon 1 VAR_038117 A0FGR9:p.Pro246Gln SP substitution exon 1 VAR_038118 A0FGR9:p.Gly416Arg SP substitution exon 1 VAR_038119 Q8N9R6:p.Val72Ile SP substitution exon 1 VAR_038120 Q8N9R6:p.His121Gln SP substitution exon 1 VAR_038121 Q96T59:p.Arg24Gln SP substitution exon 1 VAR_038123 Q8WUX2:p.Arg82Gly SP substitution exon 1 VAR_038124 Q8NA03:p.Asn64Asp SP substitution exon 1 VAR_038125 Q8NA03:p.Arg354His SP substitution exon 1 VAR_038126 Q8NA03:p.Glu374Gly SP substitution exon 1 VAR_038127 Q8NA03:p.Cys402Arg SP substitution exon 1 VAR_038128 Q8NA03:p.Leu411Phe SP substitution exon 1 VAR_038129 Q8NA03:p.Gly528Ala SP substitution exon 1 VAR_038130 Q2M2I3:p.Thr91Ala SP substitution exon 1 VAR_038131 Q2M2I3:p.Pro311Leu SP substitution exon 1 VAR_038132 Q2M2I3:p.Arg372His SP substitution exon 1 VAR_038133 Q7L4I2:p.His88Arg SP substitution exon 1 VAR_038134 Q8NEG4:p.Arg245Ser SP substitution exon 1 VAR_038135 Q8NEG4:p.Gly353Ser SP substitution exon 1 VAR_038136 Q8NEG4:p.Ala418Val SP substitution exon 1 VAR_038137 Q8NEG4:p.Arg436Gly SP substitution exon 1 VAR_038138 Q6P531:p.Arg40Trp SP substitution exon 1 VAR_038139 Q6P531:p.Ala58Val SP substitution exon 1 VAR_038140 Q6P093:p.Ala186Ser SP substitution exon 1 VAR_038141 Q6P093:p.Leu343Ile SP substitution exon 1 VAR_038142 Q9HBQ8:p.Ala110Val SP substitution exon 1 VAR_038143 Q9BWP8:p.His219Arg SP substitution exon 1 VAR_038144 Q8TDF6:p.Ile18Thr SP substitution exon 1 VAR_038145 Q8TDF6:p.Gln120Leu SP substitution exon 1 VAR_038146 Q8TDF6:p.Val145Ala SP substitution exon 1 VAR_038147 Q8TDF6:p.Arg261Cys SP substitution exon 1 VAR_038148 Q8TDF6:p.Arg335Gly SP substitution exon 1 VAR_038149 P69905:p.Asn10Thr SP substitution exon 1 VAR_038150 P69905:p.Ala14Pro SP substitution exon 1 VAR_038151 Q9P1Z9:p.Pro301His SP substitution exon 1 VAR_038152 Q9P1Z9:p.Ser322Arg SP substitution exon 1 VAR_038153 Q9P1Z9:p.Leu373His SP substitution exon 1 VAR_038158 Q2TAZ0:p.Val175Ile SP substitution exon 1 VAR_038159 Q2TAZ0:p.Ala627Val SP substitution exon 1 VAR_038160 Q2TAZ0:p.Gly948Arg SP substitution exon 1 VAR_038161 Q9H0N0:p.Ala159Thr SP substitution exon 1 VAR_038166 Q13510:p.Gln22His SP substitution exon 1 VAR_038167 Q13510:p.His23Asp SP substitution exon 1 VAR_038168 Q13510:p.Asp124Glu SP substitution exon 1 VAR_038169 Q13510:p.Leu182Val SP substitution exon 1 VAR_038170 Q13510:p.Val246Ala SP substitution exon 1 VAR_038171 Q9H9L3:p.Asn130Ser SP substitution exon 1 VAR_038172 Q9UHP7:p.Asn19Lys SP substitution exon 1 VAR_038173 Q9UHP7:p.Leu23Val SP substitution exon 1 VAR_038174 Q9UQ10:p.Ala2Pro SP substitution exon 1 VAR_038175 Q9UQ10:p.Ser66Asn SP substitution exon 1 VAR_038176 Q9UQ10:p.Val200Met SP substitution exon 1 VAR_038177 Q9UQ10:p.Val247Ala SP substitution exon 1 VAR_038178 Q9UQ10:p.Gly282Arg SP substitution exon 1 VAR_038179 Q5VTT5:p.Thr266Met SP substitution exon 1 VAR_038180 Q5VTT5:p.Met344Thr SP substitution exon 1 VAR_038181 Q5VTT5:p.Gln435Arg SP substitution exon 1 VAR_038182 Q5VTT5:p.Asp528Gly SP substitution exon 1 VAR_038183 Q5VTT5:p.Gly662Arg SP substitution exon 1 VAR_038184 Q5VTT5:p.Arg775Gln SP substitution exon 1 VAR_038185 Q5VTT5:p.Pro853Ser SP substitution exon 1 VAR_038186 Q5VTT5:p.Asp892Ala SP substitution exon 1 VAR_038187 Q5VTT5:p.Phe1041Leu SP substitution exon 1 VAR_038188 Q5VTT5:p.Ile1066Thr SP substitution exon 1 VAR_038190 Q9BSJ8:p.Arg764Cys SP substitution exon 1 VAR_038193 Q96S42:p.His165Arg SP substitution exon 1 VAR_038194 Q96S42:p.Glu203Lys SP substitution exon 1 VAR_038195 P43694:p.Ser52Phe SP substitution exon 1 VAR_038197 Q9UHF7:p.Ser654Leu SP substitution exon 1 VAR_038198 Q9UHF7:p.Arg952Cys SP substitution exon 1 VAR_038199 Q9UHF7:p.Arg952His SP substitution exon 1 VAR_038200 Q07837:p.Tyr151Cys SP substitution exon 1 VAR_038201 Q07837:p.Asn253Lys SP substitution exon 1 VAR_038202 Q07837:p.Arg362His SP substitution exon 1 VAR_038203 Q07837:p.Gly398Arg SP substitution exon 1 VAR_038210 Q9BQ52:p.Ser52Phe SP substitution exon 1 VAR_038211 Q9BQ52:p.Asp436Asn SP substitution exon 1 VAR_038212 P52952:p.Leu7Pro SP substitution exon 1 VAR_038213 P52952:p.Lys15Ile SP substitution exon 1 VAR_038214 P52952:p.Asn19Ser SP substitution exon 1 VAR_038215 P52952:p.Glu21Gln SP substitution exon 1 VAR_038216 P52952:p.Gln22Pro SP substitution exon 1 VAR_038217 P52952:p.Ser45Pro SP substitution exon 1 VAR_038218 P52952:p.Phe51Leu SP substitution exon 1 VAR_038219 P52952:p.Ala63Val SP substitution exon 1 VAR_038220 P52952:p.Leu69Pro SP substitution exon 1 VAR_038221 P52952:p.Pro77Leu SP substitution exon 1 VAR_038222 P52952:p.Cys114Arg SP substitution exon 1 VAR_038223 P52952:p.Cys114Ser SP substitution exon 1 VAR_038224 P52952:p.Lys118Arg SP substitution exon 1 VAR_038225 P52952:p.Lys124Arg SP substitution exon 1 VAR_038226 P52952:p.Glu126Val SP substitution exon 1 VAR_038227 P52952:p.Ala127Glu SP substitution exon 1 VAR_038228 P52952:p.Pro133Ser SP substitution exon 1 VAR_038229 P52952:p.Ala135Thr SP substitution exon 1 VAR_038230 P52952:p.Arg142Cys SP substitution exon 1 VAR_038231 P52952:p.Leu144Pro SP substitution exon 1 VAR_038232 P52952:p.Lys183Glu SP substitution exon 1 VAR_038233 P52952:p.Gln187His SP substitution exon 1 VAR_038234 P52952:p.Arg190Cys SP substitution exon 1 VAR_038235 P52952:p.Lys192Arg SP substitution exon 1 VAR_038236 P52952:p.Lys192Thr SP substitution exon 1 VAR_038237 P52952:p.Lys194Arg SP substitution exon 1 VAR_038238 P52952:p.Val205Glu SP substitution exon 1 VAR_038239 P52952:p.Arg216Cys SP substitution exon 1 VAR_038240 P52952:p.Ala219Val SP substitution exon 1 VAR_038241 P52952:p.Asp226Asn SP substitution exon 1 VAR_038242 P52952:p.Tyr248His SP substitution exon 1 VAR_038243 P52952:p.Pro275Thr SP substitution exon 1 VAR_038244 P52952:p.Ser279Phe SP substitution exon 1 VAR_038245 P52952:p.Ser279Pro SP substitution exon 1 VAR_038246 P52952:p.Ala281Val SP substitution exon 1 VAR_038247 P52952:p.Ala286Val SP substitution exon 1 VAR_038248 P52952:p.Asn294His SP substitution exon 1 VAR_038249 P52952:p.Asp299Gly SP substitution exon 1 VAR_038250 P52952:p.Ser305Gly SP substitution exon 1 VAR_038251 P52952:p.Gly320Ser SP substitution exon 1 VAR_038252 P52952:p.Arg322Gln SP substitution exon 1 VAR_038253 P52952:p.Ala323Thr SP substitution exon 1 VAR_038254 A5YKK6:p.Asp603Ala SP substitution exon 1 VAR_038255 O60716:p.Ser171Phe SP substitution exon 1 VAR_038257 Q7LDG7:p.Gly493Ala SP substitution exon 1 VAR_038258 Q32MH5:p.Gln135Arg SP substitution exon 1 VAR_038259 Q32MH5:p.Val560Ile SP substitution exon 1 VAR_038260 Q9P2D8:p.Val1597Ala SP substitution exon 1 VAR_038261 Q9P2D8:p.Val1670Ile SP substitution exon 1 VAR_038262 Q9P2D8:p.Lys2183Arg SP substitution exon 1 VAR_038263 Q9P2D8:p.Gly2444Ser SP substitution exon 1 VAR_038264 Q69YN2:p.Cys160Tyr SP substitution exon 1 VAR_038265 Q69YN2:p.Pro259Leu SP substitution exon 1 VAR_038268 Q2TBE0:p.Pro210Thr SP substitution exon 1 VAR_038269 Q2TBE0:p.His443Tyr SP substitution exon 1 VAR_038270 Q2TBE0:p.His445Gln SP substitution exon 1 VAR_038271 Q2TBE0:p.Gly537Arg SP substitution exon 1 VAR_038272 Q2TBE0:p.Tyr894Cys SP substitution exon 1 VAR_038273 Q9GZN7:p.Glu59Lys SP substitution exon 1 VAR_038274 Q7L592:p.Pro39Ala SP substitution exon 1 VAR_038275 Q6XQN6:p.Ala57Val SP substitution exon 1 VAR_038276 O43314:p.Ala944Gly SP substitution exon 1 VAR_038277 O43314:p.Glu985Lys SP substitution exon 1 VAR_038278 O43314:p.Arg1003Lys SP substitution exon 1 VAR_038279 O43314:p.Pro1206Gln SP substitution exon 1 VAR_038280 O43314:p.Thr1232Met SP substitution exon 1 VAR_038281 Q5JUK2:p.Arg37Gln SP substitution exon 1 VAR_038282 Q5JUK2:p.Pro269Ser SP substitution exon 1 VAR_038283 Q9NX45:p.Ser14Leu SP substitution exon 1 VAR_038284 Q9NX45:p.Ala339Thr SP substitution exon 1 VAR_038285 Q6P179:p.Pro214Leu SP substitution exon 1 VAR_038286 Q6P179:p.Lys392Asn SP substitution exon 1 VAR_038287 Q6P179:p.Leu669Gln SP substitution exon 1 VAR_038288 Q58DX5:p.Gly68Ser SP substitution exon 1 VAR_038289 Q58DX5:p.Ile128Met SP substitution exon 1 VAR_038290 Q58DX5:p.Met194Thr SP substitution exon 1 VAR_038291 Q58DX5:p.Pro385Ser SP substitution exon 1 VAR_038294 Q53F39:p.Arg138Gln SP substitution exon 1 VAR_038295 Q53F39:p.Val197Met SP substitution exon 1 VAR_038296 Q53F39:p.Ala268Pro SP substitution exon 1 VAR_038297 Q53F39:p.Met336Leu SP substitution exon 1 VAR_038298 Q68D10:p.Ser317Phe SP substitution exon 1 VAR_038299 Q68D10:p.Arg447Gln SP substitution exon 1 VAR_038300 Q68D10:p.Lys617Arg SP substitution exon 1 VAR_038301 Q9Y303:p.Asp294Asn SP substitution exon 1 VAR_038303 Q86V21:p.Ile118Val SP substitution exon 1 VAR_038304 Q96CM8:p.Gly75Val SP substitution exon 1 VAR_038305 Q96CM8:p.Val316Met SP substitution exon 1 VAR_038306 Q4G176:p.Leu2Pro SP substitution exon 1 VAR_038307 Q4G176:p.Ala17Pro SP substitution exon 1 VAR_038309 Q4L235:p.Lys368Arg SP substitution exon 1 VAR_038314 Q96GR2:p.Glu194Val SP substitution exon 1 VAR_038317 Q5FVE4:p.Val143Ala SP substitution exon 1 VAR_038318 Q5FVE4:p.Lys152Arg SP substitution exon 1 VAR_038325 Q7RTU1:p.Arg25Gln SP substitution exon 1 VAR_038326 Q7RTU1:p.Thr40Ser SP substitution exon 1 VAR_038327 A4D256:p.Pro238Ser SP substitution exon 1 VAR_038328 A4D256:p.Ile296Leu SP substitution exon 1 VAR_038329 Q9BXB7:p.Asn50Ser SP substitution exon 1 VAR_038330 Q9BXB7:p.Glu78Lys SP substitution exon 1 VAR_038331 Q9BXB7:p.Glu90Gly SP substitution exon 1 VAR_038332 Q9BXB7:p.Met133Val SP substitution exon 1 VAR_038333 Q9BXB7:p.Gly147Glu SP substitution exon 1 VAR_038334 Q9BXB7:p.Arg283Gln SP substitution exon 1 VAR_038335 Q9BXB7:p.Met286Val SP substitution exon 1 VAR_038336 Q9BXB7:p.Val423Met SP substitution exon 1 VAR_038337 Q9BXB7:p.Ala509Val SP substitution exon 1 VAR_038338 Q9BXB7:p.Met526Thr SP substitution exon 1 VAR_038339 Q9BXB7:p.Gln564Arg SP substitution exon 1 VAR_038340 O95170:p.Phe643Leu SP substitution exon 1 VAR_038341 Q5XX13:p.Ile23Asn SP substitution exon 1 VAR_038342 Q5XX13:p.Ala821Thr SP substitution exon 1 VAR_038343 A4FU69:p.Leu237Val SP substitution exon 1 VAR_038344 A4FU69:p.Lys278Ile SP substitution exon 1 VAR_038345 A4FU69:p.Arg561Ser SP substitution exon 1 VAR_038346 P16278:p.Gly272Asp SP substitution exon 1 VAR_038347 P98187:p.Tyr125Phe SP substitution exon 1 VAR_038348 P98187:p.Pro447Gln SP substitution exon 1 VAR_038349 Q5D0E6:p.Gln299Arg SP substitution exon 1 VAR_038350 Q9UBH6:p.Thr491Ala SP substitution exon 1 VAR_038351 Q8N6I1:p.Ala6Thr SP substitution exon 1 VAR_038354 Q8NI77:p.Ile735Val SP substitution exon 1 VAR_038355 Q8IUX4:p.Arg48Pro SP substitution exon 1 VAR_038356 P17302:p.Ser27Pro SP substitution exon 1 VAR_038357 P17302:p.Ile31Met SP substitution exon 1 VAR_038358 P17302:p.Ser69Tyr SP substitution exon 1 VAR_038359 P17302:p.Leu113Pro SP substitution exon 1 VAR_038360 P17302:p.Lys134Asn SP substitution exon 1 VAR_038361 P17302:p.Gly143Ser SP substitution exon 1 VAR_038362 O75445:p.Ile1665Thr SP substitution exon 1 VAR_038363 O75445:p.Ile2106Thr SP substitution exon 1 VAR_038364 O75445:p.Ile2169Thr SP substitution exon 1 VAR_038365 O75445:p.Arg2875Gln SP substitution exon 1 VAR_038366 O75445:p.Asn3099Ser SP substitution exon 1 VAR_038367 O75445:p.Asp3144Asn SP substitution exon 1 VAR_038368 O75445:p.Ile3335Met SP substitution exon 1 VAR_038369 O75445:p.Arg4674Gly SP substitution exon 1 VAR_038370 Q9NZC9:p.Ala22Gly SP substitution exon 1 VAR_038371 Q99728:p.Ser186Gly SP substitution exon 1 VAR_038372 Q99728:p.Cys645Arg SP substitution exon 1 VAR_038373 Q9UQN3:p.Ile29Val SP substitution exon 1 VAR_038374 Q9UQN3:p.Gln206His SP substitution exon 1 VAR_038375 P02489:p.Arg49Cys SP substitution exon 1 VAR_038376 Q09472:p.Thr2174Ser SP substitution exon 1 VAR_038377 Q09472:p.Gln2223Pro SP substitution exon 1 VAR_038378 Q92902:p.Ala480Thr SP substitution exon 1 VAR_038379 Q969F9:p.Glu275Lys SP substitution exon 1 VAR_038380 Q9GZU1:p.Arg403Cys SP substitution exon 1 VAR_038381 Q9NSI5:p.Arg49Thr SP substitution exon 1 VAR_038382 Q9NSI5:p.Asn156Lys SP substitution exon 1 VAR_038383 Q9NSI5:p.Arg170Trp SP substitution exon 1 VAR_038384 Q9NSI5:p.Asp350Glu SP substitution exon 1 VAR_038385 Q9BTV5:p.Leu232Val SP substitution exon 1 VAR_038389 Q9H0R6:p.Ala11Val SP substitution exon 1 VAR_038390 Q9H0R6:p.Asn263Ser SP substitution exon 1 VAR_038391 Q8IV33:p.Lys46Glu SP substitution exon 1 VAR_038392 Q9H0K6:p.Ile92Met SP substitution exon 1 VAR_038393 Q9H0K6:p.Lys264Glu SP substitution exon 1 VAR_038394 Q9H0K6:p.Ile343Val SP substitution exon 1 VAR_038395 Q8WVB3:p.Ile145Val SP substitution exon 1 VAR_038396 A4D1S0:p.Lys152Thr SP substitution exon 1 VAR_038397 A4D1S0:p.Gly339Ala SP substitution exon 1 VAR_038398 Q5T5Y3:p.Ala476Val SP substitution exon 1 VAR_038399 Q08AD1:p.Ile361Leu SP substitution exon 1 VAR_038400 Q08AD1:p.Pro958Leu SP substitution exon 1 VAR_038401 Q08AD1:p.Arg1028Pro SP substitution exon 1 VAR_038402 A0PJW8:p.Leu60Pro SP substitution exon 1 VAR_038403 A0PJW8:p.Ala66Thr SP substitution exon 1 VAR_038404 O75871:p.His29Asp SP substitution exon 1 VAR_038405 O75871:p.Lys69Arg SP substitution exon 1 VAR_038406 Q8WVC6:p.Asn84Ile SP substitution exon 1 VAR_038407 Q02078:p.Asn263Ser SP substitution exon 1 VAR_038408 Q02078:p.Pro279Leu SP substitution exon 1 VAR_038409 Q02078:p.Gly283Asp SP substitution exon 1 VAR_038410 Q9BV36:p.Thr289Ile SP substitution exon 1 VAR_038411 Q6KC79:p.Ser261Ala SP substitution exon 1 VAR_038412 Q6KC79:p.Asn384Ser SP substitution exon 1 VAR_038414 Q12913:p.Ala293Thr SP substitution exon 1 VAR_038415 Q12913:p.Val372Ile SP substitution exon 1 VAR_038416 Q12913:p.Glu872Asp SP substitution exon 1 VAR_038417 Q12913:p.Ile1235Thr SP substitution exon 1 VAR_038418 O95343:p.Gly69Asp SP substitution exon 1 VAR_038419 Q9Y210:p.Asn157Thr SP substitution exon 1 VAR_038420 Q96RL7:p.Ile90Lys SP substitution exon 1 VAR_038421 Q96RL7:p.Tyr2721Cys SP substitution exon 1 VAR_038422 Q7Z7G8:p.Tyr2341Cys SP substitution exon 1 VAR_038423 Q7Z7G8:p.Gly2645Asp SP substitution exon 1 VAR_038424 Q7Z7G8:p.Asn2993Ser SP substitution exon 1 VAR_038425 Q9BT22:p.Ser267Asn SP substitution exon 1 VAR_038426 Q9BT22:p.Leu325Met SP substitution exon 1 VAR_038428 Q9BV10:p.Gly101Arg SP substitution exon 1 VAR_038429 P05062:p.Arg134Ser SP substitution exon 1 VAR_038430 P05062:p.Ile268Asn SP substitution exon 1 VAR_038431 P43320:p.Ala65Ser SP substitution exon 1 VAR_038432 P07315:p.Phe6Leu SP substitution exon 1 VAR_038433 P50402:p.Asp149His SP substitution exon 1 VAR_038434 Q6NZ36:p.Pro126Ser SP substitution exon 1 VAR_038435 Q9C0D5:p.Asn251Ser SP substitution exon 1 VAR_038438 Q9NYW8:p.Gly229Glu SP substitution exon 1 VAR_038439 Q702N8:p.Asp3Asn SP substitution exon 1 VAR_038440 Q702N8:p.Gln346Arg SP substitution exon 1 VAR_038441 Q702N8:p.Arg551Gln SP substitution exon 1 VAR_038442 Q702N8:p.Leu929His SP substitution exon 1 VAR_038443 Q702N8:p.His965Pro SP substitution exon 1 VAR_038444 Q702N8:p.Pro1046Ala SP substitution exon 1 VAR_038445 Q702N8:p.Gly1604Arg SP substitution exon 1 VAR_038446 Q702N8:p.Ala1608Val SP substitution exon 1 VAR_038447 Q702N8:p.Arg1634Lys SP substitution exon 1 VAR_038448 Q702N8:p.Ile1724Val SP substitution exon 1 VAR_038449 A4UGR9:p.Pro450Ala SP substitution exon 1 VAR_038450 A4UGR9:p.Tyr457His SP substitution exon 1 VAR_038451 A4UGR9:p.Ile1397Thr SP substitution exon 1 VAR_038452 A4UGR9:p.Ile1488Thr SP substitution exon 1 VAR_038453 A4UGR9:p.Arg1626His SP substitution exon 1 VAR_038454 A4UGR9:p.Asn1833Ser SP substitution exon 1 VAR_038455 A4UGR9:p.Leu2423Arg SP substitution exon 1 VAR_038456 A4UGR9:p.Ser2553Asn SP substitution exon 1 VAR_038457 A4UGR9:p.His2595Tyr SP substitution exon 1 VAR_038458 A4UGR9:p.Val2607Ile SP substitution exon 1 VAR_038459 A4UGR9:p.Gly2728Asp SP substitution exon 1 VAR_038460 A4UGR9:p.Ala2910Thr SP substitution exon 1 VAR_038461 A4UGR9:p.Tyr2975Cys SP substitution exon 1 VAR_038462 A4UGR9:p.Ile3022Val SP substitution exon 1 VAR_038463 A4UGR9:p.Gly3202Glu SP substitution exon 1 VAR_038464 Q96I15:p.Lys52Glu SP substitution exon 1 VAR_038465 Q96I15:p.Ala175Thr SP substitution exon 1 VAR_038466 Q96I15:p.Phe276Ser SP substitution exon 1 VAR_038467 Q2VWP7:p.Ile1062Leu SP substitution exon 1 VAR_038468 P36956:p.Asn306Ser SP substitution exon 1 VAR_038469 P36956:p.Ala309Thr SP substitution exon 1 VAR_038470 P36956:p.Val417Met SP substitution exon 1 VAR_038471 P36956:p.Val580Met SP substitution exon 1 VAR_038472 P36956:p.Arg746His SP substitution exon 1 VAR_038473 P36956:p.Ser834Leu SP substitution exon 1 VAR_038476 Q96PN6:p.Thr234Met SP substitution exon 1 VAR_038477 Q96PN6:p.Ile697Val SP substitution exon 1 VAR_038480 Q8IV77:p.Glu553Val SP substitution exon 1 VAR_038482 P54886:p.Arg84Gln SP substitution exon 1 VAR_038483 Q401N2:p.Ala152Thr SP substitution exon 1 VAR_038484 Q9NTJ5:p.Tyr434Phe SP substitution exon 1 VAR_038485 Q8N5W8:p.Pro2Leu SP substitution exon 1 VAR_038486 Q9H5L6:p.Met284Ile SP substitution exon 1 VAR_038487 Q9H5L6:p.Leu299Phe SP substitution exon 1 VAR_038489 Q9P2K1:p.Glu376Ala SP substitution exon 1 VAR_038490 Q9P2K1:p.Val660Ile SP substitution exon 1 VAR_038491 Q9C0D4:p.Ser105Pro SP substitution exon 1 VAR_038492 Q9C0D4:p.Ser523Asn SP substitution exon 1 VAR_038493 A8K855:p.Phe27Ile SP substitution exon 1 VAR_038494 A8K855:p.Ser186Gly SP substitution exon 1 VAR_038495 A8K855:p.Thr248Ile SP substitution exon 1 VAR_038496 A8K855:p.Met262Thr SP substitution exon 1 VAR_038497 A8K855:p.Arg375Lys SP substitution exon 1 VAR_038498 Q2TAL5:p.Ala162Thr SP substitution exon 1 VAR_038499 Q2YD98:p.Arg391His SP substitution exon 1 VAR_038500 Q2YD98:p.Pro620Leu SP substitution exon 1 VAR_038501 Q5JYT7:p.Lys339Asn SP substitution exon 1 VAR_038502 Q5JYT7:p.Pro415Leu SP substitution exon 1 VAR_038503 Q5JYT7:p.Ala633Val SP substitution exon 1 VAR_038506 P02549:p.Ser109Phe SP substitution exon 1 VAR_038507 P02549:p.Asp152Asn SP substitution exon 1 VAR_038508 P02549:p.Ala766Thr SP substitution exon 1 VAR_038509 P02549:p.Ala957Val SP substitution exon 1 VAR_038510 P02549:p.Ser1163Ala SP substitution exon 1 VAR_038511 P02549:p.Arg1330Ile SP substitution exon 1 VAR_038512 P02549:p.Cys1568Arg SP substitution exon 1 VAR_038513 Q13813:p.Asn385Ser SP substitution exon 1 VAR_038514 P11277:p.Ser613Ile SP substitution exon 1 VAR_038515 P11277:p.Gly1408Arg SP substitution exon 1 VAR_038516 Q5DX21:p.Pro39Thr SP substitution exon 1 VAR_038517 Q5DX21:p.Glu333Asp SP substitution exon 1 VAR_038518 Q8WYK1:p.Ser452Leu SP substitution exon 1 VAR_038519 Q8WYK1:p.Thr1195Met SP substitution exon 1 VAR_038520 Q96QF7:p.Thr662Ile SP substitution exon 1 VAR_038521 Q96NY9:p.Arg180Pro SP substitution exon 1 VAR_038522 Q96NY9:p.Arg350Trp SP substitution exon 1 VAR_038523 A6NC98:p.Asp193Glu SP substitution exon 1 VAR_038524 A6NC98:p.Trp639Arg SP substitution exon 1 VAR_038525 A6NC98:p.Asp886Ala SP substitution exon 1 VAR_038526 Q96N66:p.Phe261Leu SP substitution exon 1 VAR_038527 Q96N66:p.Val415Leu SP substitution exon 1 VAR_038529 Q8N1F8:p.Arg393His SP substitution exon 1 VAR_038530 Q8N1F8:p.Arg410Gly SP substitution exon 1 VAR_038531 Q8N1F8:p.Val563Ile SP substitution exon 1 VAR_038532 Q8N1F8:p.Ser752Phe SP substitution exon 1 VAR_038533 Q8N1F8:p.Ile1085Val SP substitution exon 1 VAR_038542 O43184:p.Gly48Arg SP substitution exon 1 VAR_038543 Q9H6L2:p.Leu6Val SP substitution exon 1 VAR_038544 Q6T4P5:p.Ile193Thr SP substitution exon 1 VAR_038546 Q96GM1:p.Thr155Met SP substitution exon 1 VAR_038547 Q2LD37:p.Ile978Thr SP substitution exon 1 VAR_038548 Q2LD37:p.Thr4352Ala SP substitution exon 1 VAR_038549 Q2LD37:p.Thr4786Ala SP substitution exon 1 VAR_038552 Q52LW3:p.Ser552Cys SP substitution exon 1 VAR_038553 Q52LW3:p.Gly1255Asp SP substitution exon 1 VAR_038554 P13631:p.Ser427Leu SP substitution exon 1 VAR_038555 Q96P44:p.Leu277Pro SP substitution exon 1 VAR_038556 Q96P44:p.Thr343Met SP substitution exon 1 VAR_038557 Q96P44:p.Ile495Thr SP substitution exon 1 VAR_038562 Q8NFW1:p.Ser320Gly SP substitution exon 1 VAR_038563 Q8NFW1:p.Pro703Thr SP substitution exon 1 VAR_038564 Q8NFW1:p.Ala938Asp SP substitution exon 1 VAR_038566 Q2UY09:p.Ala189Gly SP substitution exon 1 VAR_038567 Q2UY09:p.Ile239Val SP substitution exon 1 VAR_038568 Q2UY09:p.Thr327Ser SP substitution exon 1 VAR_038569 Q2UY09:p.Glu433Asp SP substitution exon 1 VAR_038570 Q2UY09:p.Ala472Pro SP substitution exon 1 VAR_038571 Q2UY09:p.Arg741Gln SP substitution exon 1 VAR_038572 Q96QE3:p.Thr35Ser SP substitution exon 1 VAR_038573 Q96QE3:p.Pro87Ser SP substitution exon 1 VAR_038574 Q96QE3:p.Glu135Gly SP substitution exon 1 VAR_038575 Q96QE3:p.Arg249Lys SP substitution exon 1 VAR_038576 Q96QE3:p.Asn699His SP substitution exon 1 VAR_038578 Q8N556:p.Ser403Cys SP substitution exon 1 VAR_038579 Q8N556:p.Val518Met SP substitution exon 1 VAR_038580 Q8WXX0:p.His169Pro SP substitution exon 1 VAR_038581 Q8WXX0:p.Ala280Thr SP substitution exon 1 VAR_038582 Q8WXX0:p.Ile315Val SP substitution exon 1 VAR_038583 Q8WXX0:p.Ser438Asn SP substitution exon 1 VAR_038584 Q8WXX0:p.Arg545Cys SP substitution exon 1 VAR_038585 Q8WXX0:p.Asp565His SP substitution exon 1 VAR_038586 Q8WXX0:p.Lys675Glu SP substitution exon 1 VAR_038587 Q8WXX0:p.Lys825Glu SP substitution exon 1 VAR_038588 Q8WXX0:p.Pro1422Thr SP substitution exon 1 VAR_038589 Q8WXX0:p.Glu1525Lys SP substitution exon 1 VAR_038590 Q8WXX0:p.Arg1886Gln SP substitution exon 1 VAR_038591 Q8WXX0:p.Pro1940Leu SP substitution exon 1 VAR_038592 Q8WXX0:p.Pro1971Leu SP substitution exon 1 VAR_038593 Q8WXX0:p.Met2020Thr SP substitution exon 1 VAR_038594 Q8WXX0:p.Asn2459Lys SP substitution exon 1 VAR_038595 Q8WXX0:p.Thr2569Ile SP substitution exon 1 VAR_038596 Q8WXX0:p.Ile2809Val SP substitution exon 1 VAR_038597 Q8WXX0:p.Leu3319Pro SP substitution exon 1 VAR_038598 Q8WXX0:p.Arg3386His SP substitution exon 1 VAR_038599 P02708:p.Val177Leu SP substitution exon 1 VAR_038600 P02708:p.Asp383Val SP substitution exon 1 VAR_038601 P02708:p.Cys463Trp SP substitution exon 1 VAR_038602 P18507:p.Arg177Gly SP substitution exon 1 VAR_038604 P42773:p.Thr126Met SP substitution exon 1 VAR_038605 P28329:p.Ile336Thr SP substitution exon 1 VAR_038606 Q6ZWL3:p.Leu22Val SP substitution exon 1 VAR_038607 Q6ZWL3:p.Ser213Asn SP substitution exon 1 VAR_038608 Q96D31:p.Ser218Gly SP substitution exon 1 VAR_038609 P08246:p.Cys55Tyr SP substitution exon 1 VAR_038610 P08246:p.Ala57Thr SP substitution exon 1 VAR_038611 P08246:p.Ile60Thr SP substitution exon 1 VAR_038612 P08246:p.Cys71Arg SP substitution exon 1 VAR_038613 P08246:p.Cys71Ser SP substitution exon 1 VAR_038614 P08246:p.Gly85Glu SP substitution exon 1 VAR_038615 P08246:p.Val98Leu SP substitution exon 1 VAR_038616 P08246:p.Val101Leu SP substitution exon 1 VAR_038617 P08246:p.Val101Met SP substitution exon 1 VAR_038619 P08246:p.Ser126Leu SP substitution exon 1 VAR_038620 P08246:p.Pro139Leu SP substitution exon 1 VAR_038621 P08246:p.Cys151Ser SP substitution exon 1 VAR_038623 P08246:p.Pro205Arg SP substitution exon 1 VAR_038624 P08246:p.Gly210Val SP substitution exon 1 VAR_038625 P08246:p.Gly214Arg SP substitution exon 1 VAR_038626 P42702:p.Ser664Leu SP substitution exon 1 VAR_038628 P04264:p.Ala454Ser SP substitution exon 1 VAR_038630 Q9HCC0:p.Ala478Gly SP substitution exon 1 VAR_038631 Q96RQ3:p.Asn560Thr SP substitution exon 1 VAR_038632 P32245:p.Thr11Ala SP substitution exon 1 VAR_038633 P32245:p.Ser36Tyr SP substitution exon 1 VAR_038634 P32245:p.Val50Met SP substitution exon 1 VAR_038635 P32245:p.Ser58Cys SP substitution exon 1 VAR_038636 P32245:p.Asn62Ser SP substitution exon 1 VAR_038638 P32245:p.Asn97Asp SP substitution exon 1 VAR_038639 P32245:p.Ile102Ser SP substitution exon 1 VAR_038640 P32245:p.Ile102Thr SP substitution exon 1 VAR_038641 P32245:p.Leu106Pro SP substitution exon 1 VAR_038642 P32245:p.Ile125Lys SP substitution exon 1 VAR_038643 P32245:p.Ser127Leu SP substitution exon 1 VAR_038644 P32245:p.Arg165Gln SP substitution exon 1 VAR_038645 P32245:p.Ile170Val SP substitution exon 1 VAR_038646 P32245:p.Ala175Thr SP substitution exon 1 VAR_038647 P32245:p.Gly181Asp SP substitution exon 1 VAR_038648 P32245:p.Ala219Val SP substitution exon 1 VAR_038649 P32245:p.Ile226Thr SP substitution exon 1 VAR_038650 P32245:p.Val253Ile SP substitution exon 1 VAR_038651 P32245:p.Cys271Arg SP substitution exon 1 VAR_038652 P32245:p.Cys271Tyr SP substitution exon 1 VAR_038653 P32245:p.Ile316Ser SP substitution exon 1 VAR_038654 P32245:p.Leu325Phe SP substitution exon 1 VAR_038655 Q8IZJ3:p.Arg251Trp SP substitution exon 1 VAR_038656 Q8IZJ3:p.Met265Thr SP substitution exon 1 VAR_038657 Q8IZJ3:p.Arg294Gln SP substitution exon 1 VAR_038658 Q8IZJ3:p.Asp539Glu SP substitution exon 1 VAR_038659 Q8IZJ3:p.His546Arg SP substitution exon 1 VAR_038660 Q8IZJ3:p.Pro736His SP substitution exon 1 VAR_038661 Q8IZJ3:p.Val1156Ile SP substitution exon 1 VAR_038662 Q8IZJ3:p.Thr1268Ile SP substitution exon 1 VAR_038663 Q8IZJ3:p.Gln1843Arg SP substitution exon 1 VAR_038664 A4D0V7:p.Ile326Thr SP substitution exon 1 VAR_038665 A4D0V7:p.Ala551Gly SP substitution exon 1 VAR_038668 Q8NG48:p.Ile29Val SP substitution exon 1 VAR_038669 Q8NG48:p.Ala331Val SP substitution exon 1 VAR_038670 Q8NG48:p.Val406Met SP substitution exon 1 VAR_038671 Q8NG48:p.Ser472Thr SP substitution exon 1 VAR_038672 Q8NG48:p.Ile541Val SP substitution exon 1 VAR_038673 Q8NG48:p.Glu641Asp SP substitution exon 1 VAR_038674 Q8NG48:p.Arg680Ser SP substitution exon 1 VAR_038675 Q7Z4N8:p.Asp400Asn SP substitution exon 1 VAR_038676 Q9UHD1:p.Ala329Asp SP substitution exon 1 VAR_038677 Q2VPA4:p.Arg116Gly SP substitution exon 1 VAR_038678 Q2VPA4:p.Ile139Val SP substitution exon 1 VAR_038679 Q2VPA4:p.Asn402Asp SP substitution exon 1 VAR_038680 Q2VPA4:p.Ile455Val SP substitution exon 1 VAR_038681 Q2VPA4:p.Leu491Pro SP substitution exon 1 VAR_038682 Q9BVC3:p.His376Arg SP substitution exon 1 VAR_038685 Q96QU6:p.Gly221Glu SP substitution exon 1 VAR_038686 Q96QU6:p.Ser393Leu SP substitution exon 1 VAR_038687 Q96QU6:p.Pro421Leu SP substitution exon 1 VAR_038689 Q12888:p.Gly1488Trp SP substitution exon 1 VAR_038690 Q15849:p.Ala880Thr SP substitution exon 1 VAR_038691 Q58G82:p.Thr97Met SP substitution exon 1 VAR_038692 Q6SJ96:p.Arg31Pro SP substitution exon 1 VAR_038694 Q6IQ20:p.Asp389Asn SP substitution exon 1 VAR_038695 Q6IQ20:p.Ser152Ala SP substitution exon 1 VAR_038696 Q14207:p.Ile295Leu SP substitution exon 1 VAR_038697 Q14207:p.Leu399Met SP substitution exon 1 VAR_038698 Q14207:p.Val447Met SP substitution exon 1 VAR_038699 Q14207:p.Ile483Leu SP substitution exon 1 VAR_038700 Q14207:p.Leu540Phe SP substitution exon 1 VAR_038701 Q14207:p.Val575Ile SP substitution exon 1 VAR_038702 Q14207:p.Val608Ala SP substitution exon 1 VAR_038703 Q14207:p.Val621Ile SP substitution exon 1 VAR_038709 Q9Y2C5:p.Ala372Thr SP substitution exon 1 VAR_038710 Q9P2U8:p.Thr40Ser SP substitution exon 1 VAR_038711 Q9P2U8:p.Asn551Ser SP substitution exon 1 VAR_038712 Q14210:p.Ala10Thr SP substitution exon 1 VAR_038713 Q8TDS4:p.Arg311Cys SP substitution exon 1 VAR_038714 Q8TDS4:p.Met317Ile SP substitution exon 1 VAR_038721 Q14773:p.Val208Leu SP substitution exon 1 VAR_038722 Q9NR63:p.Val181Met SP substitution exon 1 VAR_038723 Q9NR63:p.Ala185Val SP substitution exon 1 VAR_038724 Q9NR63:p.Arg191His SP substitution exon 1 VAR_038725 Q9NR63:p.Asp227Asn SP substitution exon 1 VAR_038726 Q9NR63:p.Glu380Lys SP substitution exon 1 VAR_038727 Q9NR63:p.Ala420Gly SP substitution exon 1 VAR_038728 Q9NR63:p.Arg473Cys SP substitution exon 1 VAR_038729 Q9NR63:p.Val479Ile SP substitution exon 1 VAR_038730 P00749:p.Val15Leu SP substitution exon 1 VAR_038731 P00749:p.Lys231Gln SP substitution exon 1 VAR_038732 P00750:p.Arg136Ser SP substitution exon 1 VAR_038733 P00750:p.Ala146Thr SP substitution exon 1 VAR_038734 P20851:p.Lys102Gln SP substitution exon 1 VAR_038735 P01031:p.Val145Ile SP substitution exon 1 VAR_038736 P01031:p.Arg449Gly SP substitution exon 1 VAR_038743 P02818:p.Arg94Gln SP substitution exon 1 VAR_038744 Q96JP9:p.His53Gln SP substitution exon 1 VAR_038745 Q96JP9:p.Ala212Thr SP substitution exon 1 VAR_038746 Q96JP9:p.Ala243Val SP substitution exon 1 VAR_038747 Q96JP9:p.Pro532Ala SP substitution exon 1 VAR_038748 Q5QJE6:p.Glu309Asp SP substitution exon 1 VAR_038749 Q5QJE6:p.Thr341Ala SP substitution exon 1 VAR_038750 Q5QJE6:p.Ala430Val SP substitution exon 1 VAR_038751 Q5QJE6:p.Tyr676Phe SP substitution exon 1 VAR_038752 Q9Y4R8:p.Glu7Gly SP substitution exon 1 VAR_038753 Q9Y4R8:p.Gln146Arg SP substitution exon 1 VAR_038755 Q7L3B6:p.Ser291Phe SP substitution exon 1 VAR_038756 Q53ET0:p.Met147Val SP substitution exon 1 VAR_038757 Q53ET0:p.Arg379Cys SP substitution exon 1 VAR_038758 Q6UUV7:p.Ser72Asn SP substitution exon 1 VAR_038759 Q6UUV7:p.Leu346Ser SP substitution exon 1 VAR_038760 Q86WI1:p.Trp373Cys SP substitution exon 1 VAR_038761 Q86WI1:p.Tyr440His SP substitution exon 1 VAR_038762 Q86WI1:p.His923Arg SP substitution exon 1 VAR_038763 Q86WI1:p.Tyr943His SP substitution exon 1 VAR_038764 Q86WI1:p.Ala957Glu SP substitution exon 1 VAR_038765 Q86WI1:p.Thr1192Ala SP substitution exon 1 VAR_038766 Q86WI1:p.Arg1514Ser SP substitution exon 1 VAR_038767 Q86WI1:p.Thr1539Arg SP substitution exon 1 VAR_038768 Q86WI1:p.Val1965Leu SP substitution exon 1 VAR_038769 Q86WI1:p.His3050Gln SP substitution exon 1 VAR_038770 Q86WI1:p.Val3080Ile SP substitution exon 1 VAR_038771 Q86WI1:p.Ile3411Val SP substitution exon 1 VAR_038772 Q86WI1:p.Asp3607Glu SP substitution exon 1 VAR_038773 Q86WI1:p.Leu3862Phe SP substitution exon 1 VAR_038774 Q86WI1:p.Val4220Ile SP substitution exon 1 VAR_038775 Q9BW04:p.Pro87Ser SP substitution exon 1 VAR_038776 Q9BW04:p.Thr107Ala SP substitution exon 1 VAR_038777 Q9BW04:p.Asn157Thr SP substitution exon 1 VAR_038778 Q9BW04:p.Arg258Gly SP substitution exon 1 VAR_038782 Q96DN2:p.Pro842Arg SP substitution exon 1 VAR_038783 Q6ZWJ8:p.Gly47Glu SP substitution exon 1 VAR_038784 Q01113:p.Arg63Lys SP substitution exon 1 VAR_038785 P53814:p.Gly455Asp SP substitution exon 1 VAR_038786 P53814:p.Ala547Pro SP substitution exon 1 VAR_038787 P53814:p.Ala559Val SP substitution exon 1 VAR_038788 P53814:p.Ala580Thr SP substitution exon 1 VAR_038789 Q8IUC6:p.Met46Ile SP substitution exon 1 VAR_038790 Q9H9Q4:p.Ala14Thr SP substitution exon 1 VAR_038791 Q9H9Q4:p.His89Arg SP substitution exon 1 VAR_038792 Q9H9Q4:p.Gln256Leu SP substitution exon 1 VAR_038794 Q8N1N5:p.Cys89Tyr SP substitution exon 1 VAR_038795 Q8N1N5:p.His95Pro SP substitution exon 1 VAR_038796 Q9Y6H8:p.Trp45Ser SP substitution exon 1 VAR_038797 P48165:p.Arg23Thr SP substitution exon 1 VAR_038798 P48165:p.Val44Glu SP substitution exon 1 VAR_038799 P48165:p.Glu48Lys SP substitution exon 1 VAR_038800 P48165:p.Arg198Gln SP substitution exon 1 VAR_038801 P48165:p.Ile247Met SP substitution exon 1 VAR_038802 Q15020:p.Asp23Glu SP substitution exon 1 VAR_038803 Q96EY8:p.Arg19His SP substitution exon 1 VAR_038804 Q8IVH4:p.Arg359Gly SP substitution exon 1 VAR_038805 Q9Y4U1:p.Ser271Gly SP substitution exon 1 VAR_038806 P51508:p.Gly117Val SP substitution exon 1 VAR_038807 Q13049:p.Pro130Ser SP substitution exon 1 VAR_038808 Q13049:p.Thr257Arg SP substitution exon 1 VAR_038809 Q13049:p.Arg408Cys SP substitution exon 1 VAR_038810 P02787:p.Asp77Asn SP substitution exon 1 VAR_038811 Q03431:p.Thr410Arg SP substitution exon 1 VAR_038812 P09467:p.Phe194Ser SP substitution exon 1 VAR_038813 P09467:p.Pro284Arg SP substitution exon 1 VAR_038814 P12235:p.Ala90Asp SP substitution exon 1 VAR_038815 P12235:p.Ala123Asp SP substitution exon 1 VAR_038816 Q14164:p.Glu128Lys SP substitution exon 1 VAR_038817 Q14164:p.Ala371Thr SP substitution exon 1 VAR_038818 Q14164:p.Glu515Asp SP substitution exon 1 VAR_038819 Q14164:p.Ile543Met SP substitution exon 1 VAR_038820 Q14164:p.Ala602Val SP substitution exon 1 VAR_038821 Q59H18:p.Ala785Gly SP substitution exon 1 VAR_038822 Q59H18:p.Asp833Tyr SP substitution exon 1 VAR_038823 Q14393:p.Phe41Leu SP substitution exon 1 VAR_038824 Q14393:p.Ser231Tyr SP substitution exon 1 VAR_038830 Q9Y5W3:p.Leu104Pro SP substitution exon 1 VAR_038831 Q9Y5W3:p.Arg145Pro SP substitution exon 1 VAR_038832 Q15788:p.Val1238Ile SP substitution exon 1 VAR_038833 Q9UK55:p.Gly139Arg SP substitution exon 1 VAR_038834 Q9UK55:p.Gly271Ser SP substitution exon 1 VAR_038835 Q9UK55:p.Gln384Pro SP substitution exon 1 VAR_038836 O75326:p.Arg207Gln SP substitution exon 1 VAR_038837 O75326:p.Arg207Trp SP substitution exon 1 VAR_038838 O75326:p.Arg460His SP substitution exon 1 VAR_038839 O75326:p.Arg461Cys SP substitution exon 1 VAR_038840 Q969J3:p.Ser41Cys SP substitution exon 1 VAR_038841 Q969J3:p.Asp191Asn SP substitution exon 1 VAR_038845 Q9NZV5:p.Thr137Ala SP substitution exon 1 VAR_038846 Q9NZV5:p.Cys142Tyr SP substitution exon 1 VAR_038847 Q9NZV5:p.Asn502Lys SP substitution exon 1 VAR_038848 Q01804:p.Ala216Thr SP substitution exon 1 VAR_038849 Q4VNC1:p.Ile181Met SP substitution exon 1 VAR_038850 Q4VNC1:p.Val353Ala SP substitution exon 1 VAR_038851 Q4VNC1:p.Glu646Asp SP substitution exon 1 VAR_038852 Q9NZP8:p.Ile285Val SP substitution exon 1 VAR_038853 Q5KU26:p.Lys91Glu SP substitution exon 1 VAR_038854 Q5KU26:p.Ile487Val SP substitution exon 1 VAR_038855 Q5KU26:p.Ser522Pro SP substitution exon 1 VAR_038856 Q5KU26:p.Gly606Ser SP substitution exon 1 VAR_038860 Q8TAY7:p.His53Arg SP substitution exon 1 VAR_038861 Q9P265:p.Ile792Val SP substitution exon 1 VAR_038862 Q8NCM8:p.Thr302Pro SP substitution exon 1 VAR_038863 Q8NCM8:p.Gln304Leu SP substitution exon 1 VAR_038864 Q8NCM8:p.His341Tyr SP substitution exon 1 VAR_038865 Q8NCM8:p.Arg456Gln SP substitution exon 1 VAR_038866 Q8NCM8:p.Arg789Lys SP substitution exon 1 VAR_038867 Q8NCM8:p.Arg1221Lys SP substitution exon 1 VAR_038868 Q8NCM8:p.Thr1288Ala SP substitution exon 1 VAR_038869 Q8NCM8:p.Lys1413Arg SP substitution exon 1 VAR_038870 Q8NCM8:p.Arg2871Gln SP substitution exon 1 VAR_038871 Q8NCM8:p.Ala3680Val SP substitution exon 1 VAR_038872 Q8NCM8:p.Ser3976Asn SP substitution exon 1 VAR_038873 Q8NCM8:p.Gln4139Pro SP substitution exon 1 VAR_038874 Q8TCX1:p.Phe33Ser SP substitution exon 1 VAR_038875 Q8TCX1:p.Pro58Ser SP substitution exon 1 VAR_038877 Q9NQ48:p.Lys152Glu SP substitution exon 1 VAR_038878 Q9NQ48:p.Asp246Asn SP substitution exon 1 VAR_038879 Q9NQ48:p.Gln251Arg SP substitution exon 1 VAR_038880 Q8NFJ9:p.His35Arg SP substitution exon 1 VAR_038881 Q8NFJ9:p.Lys53Glu SP substitution exon 1 VAR_038882 Q8NFJ9:p.Asp148Asn SP substitution exon 1 VAR_038883 Q8NFJ9:p.Arg160Gln SP substitution exon 1 VAR_038884 Q8NFJ9:p.Gly305Ser SP substitution exon 1 VAR_038886 Q8NFJ9:p.Tyr434Ser SP substitution exon 1 VAR_038889 Q9BXC9:p.Arg23Pro SP substitution exon 1 VAR_038890 Q9BXC9:p.Asp174Glu SP substitution exon 1 VAR_038891 Q9BXC9:p.Leu349Trp SP substitution exon 1 VAR_038892 Q9BXC9:p.Arg643His SP substitution exon 1 VAR_038893 Q8IWZ6:p.Ile66Phe SP substitution exon 1 VAR_038894 Q96RK4:p.Lys46Arg SP substitution exon 1 VAR_038898 Q9NPJ1:p.Ala181Pro SP substitution exon 1 VAR_038899 Q9NPJ1:p.Thr237Ala SP substitution exon 1 VAR_038900 Q9NPJ1:p.Thr237Pro SP substitution exon 1 VAR_038901 Q9NPJ1:p.Thr325Pro SP substitution exon 1 VAR_038902 Q9NPJ1:p.Ser460Pro SP substitution exon 1 VAR_038903 Q9NPJ1:p.Asp492Asn SP substitution exon 1 VAR_038904 Q32P51:p.Asn215Asp SP substitution exon 1 VAR_038906 Q5TC12:p.Ser62Gly SP substitution exon 1 VAR_038907 Q9Y2G1:p.Ala723Thr SP substitution exon 1 VAR_038916 Q8IVF4:p.Ile480Val SP substitution exon 1 VAR_038917 Q8WWW8:p.Pro237Ser SP substitution exon 1 VAR_038918 Q9HD43:p.His348Tyr SP substitution exon 1 VAR_038919 Q9HD43:p.Leu543Phe SP substitution exon 1 VAR_038925 Q86Y91:p.Gln527Arg SP substitution exon 1 VAR_038926 Q6ZS11:p.Pro288Leu SP substitution exon 1 VAR_038927 Q9HBR0:p.Ala831Gly SP substitution exon 1 VAR_038928 Q9NXL2:p.Lys67Asn SP substitution exon 1 VAR_038929 Q9NXL2:p.Met88Val SP substitution exon 1 VAR_038930 Q86VW1:p.His49Arg SP substitution exon 1 VAR_038931 Q86VW1:p.Val252Ala SP substitution exon 1 VAR_038932 Q86VW1:p.Met409Thr SP substitution exon 1 VAR_038933 Q86VW1:p.Val431Ile SP substitution exon 1 VAR_038934 Q99797:p.Ala137Val SP substitution exon 1 VAR_038935 Q99797:p.Arg340Gln SP substitution exon 1 VAR_038936 Q99797:p.Arg453His SP substitution exon 1 VAR_038937 Q99797:p.Ser488Gly SP substitution exon 1 VAR_038942 P23471:p.Ile3Ser SP substitution exon 1 VAR_038943 P23471:p.Arg6Leu SP substitution exon 1 VAR_038944 P23471:p.Gly1433Asp SP substitution exon 1 VAR_038945 Q8N9H8:p.Arg220Gln SP substitution exon 1 VAR_038946 P56851:p.Leu5Val SP substitution exon 1 VAR_038947 Q9ULV1:p.Met105Val SP substitution exon 1 VAR_038948 Q9ULV1:p.Met157Val SP substitution exon 1 VAR_038949 O14974:p.Cys116Trp SP substitution exon 1 VAR_038950 O14974:p.Thr305Pro SP substitution exon 1 VAR_038951 O14974:p.Lys734Asn SP substitution exon 1 VAR_038952 A5PLL1:p.Leu156Ser SP substitution exon 1 VAR_038953 P0C6C1:p.Pro369Arg SP substitution exon 1 VAR_038954 P0C6C1:p.Pro427His SP substitution exon 1 VAR_038955 P0C6C1:p.Leu442Ile SP substitution exon 1 VAR_038957 Q6ISU1:p.Val106Ile SP substitution exon 1 VAR_038958 Q6ISU1:p.Ala183Thr SP substitution exon 1 VAR_038959 P02766:p.Leu32Pro SP substitution exon 1 VAR_038960 P02766:p.Met33Ile SP substitution exon 1 VAR_038961 P02766:p.Ser43Asn SP substitution exon 1 VAR_038962 P02766:p.Val50Gly SP substitution exon 1 VAR_038963 P02766:p.Phe53Cys SP substitution exon 1 VAR_038964 P02766:p.Phe53Val SP substitution exon 1 VAR_038965 P02766:p.Arg54Thr SP substitution exon 1 VAR_038966 P02766:p.Lys55Asn SP substitution exon 1 VAR_038967 P02766:p.Asp58Ala SP substitution exon 1 VAR_038968 P02766:p.Asp58Val SP substitution exon 1 VAR_038969 P02766:p.Trp61Leu SP substitution exon 1 VAR_038970 P02766:p.Glu62Asp SP substitution exon 1 VAR_038971 P02766:p.Phe64Ser SP substitution exon 1 VAR_038972 P02766:p.Ala65Ser SP substitution exon 1 VAR_038973 P02766:p.Gly67Glu SP substitution exon 1 VAR_038974 P02766:p.Thr69Ile SP substitution exon 1 VAR_038975 P02766:p.Gly73Glu SP substitution exon 1 VAR_038976 P02766:p.Glu74Lys SP substitution exon 1 VAR_038977 P02766:p.Leu75Gln SP substitution exon 1 VAR_038978 P02766:p.Glu81Gly SP substitution exon 1 VAR_038979 P02766:p.Tyr98Phe SP substitution exon 1 VAR_038980 P02766:p.Ile104Thr SP substitution exon 1 VAR_038981 P02766:p.Val114Ala SP substitution exon 1 VAR_038982 P02766:p.Ala117Ser SP substitution exon 1 VAR_038983 P02766:p.Arg124His SP substitution exon 1 VAR_038984 P02766:p.Thr126Asn SP substitution exon 1 VAR_038985 P02766:p.Ile127Met SP substitution exon 1 VAR_038986 P02766:p.Ala140Ser SP substitution exon 1 VAR_038987 P02766:p.Val142Ala SP substitution exon 1 VAR_038988 P02766:p.Asn144Ser SP substitution exon 1 VAR_038989 Q86VQ0:p.Asp26Ala SP substitution exon 1 VAR_038990 Q86VQ0:p.Arg66Gln SP substitution exon 1 VAR_038991 Q86VQ0:p.Ala546Pro SP substitution exon 1 VAR_038992 Q86VQ0:p.Gly656Asp SP substitution exon 1 VAR_038993 Q15111:p.Asp445Asn SP substitution exon 1 VAR_038994 Q15111:p.Pro454Ser SP substitution exon 1 VAR_038995 Q15111:p.Ser546Phe SP substitution exon 1 VAR_038996 Q15111:p.Val667Ile SP substitution exon 1 VAR_038997 Q15111:p.Trp684Cys SP substitution exon 1 VAR_038998 Q15111:p.Ser937Asn SP substitution exon 1 VAR_038999 Q569K6:p.Pro191Leu SP substitution exon 1 VAR_039000 Q569K6:p.Ser587Ala SP substitution exon 1 VAR_039001 Q6ZNA1:p.Met219Ile SP substitution exon 1 VAR_039002 Q6ZNA1:p.Asn809Ser SP substitution exon 1 VAR_039003 P29084:p.Lys183Arg SP substitution exon 1 VAR_039004 P35269:p.Ala3Val SP substitution exon 1 VAR_039005 Q6PID8:p.Ser2Leu SP substitution exon 1 VAR_039006 Q6PID8:p.Asp183Gly SP substitution exon 1 VAR_039007 Q6PID8:p.Ile274Val SP substitution exon 1 VAR_039008 Q6PID8:p.Glu295Gly SP substitution exon 1 VAR_039010 Q9UHB4:p.Val522Ile SP substitution exon 1 VAR_039013 Q5VZV1:p.Asn46Ser SP substitution exon 1 VAR_039014 Q6PGQ1:p.Ile4Thr SP substitution exon 1 VAR_039015 Q9NVC3:p.Leu46Pro SP substitution exon 1 VAR_039016 Q9NVC3:p.Thr78Ile SP substitution exon 1 VAR_039017 Q6P2C0:p.Leu66His SP substitution exon 1 VAR_039018 Q6P2C0:p.Ser254Thr SP substitution exon 1 VAR_039019 Q6P2C0:p.Thr352Met SP substitution exon 1 VAR_039020 P04180:p.Asn29Ile SP substitution exon 1 VAR_039021 P04180:p.Pro34Gln SP substitution exon 1 VAR_039022 P04180:p.Thr37Met SP substitution exon 1 VAR_039023 P04180:p.Val70Glu SP substitution exon 1 VAR_039024 P04180:p.Gly95Arg SP substitution exon 1 VAR_039025 P04180:p.Ser115Pro SP substitution exon 1 VAR_039026 P04180:p.Arg123Cys SP substitution exon 1 VAR_039027 P04180:p.Arg159Gln SP substitution exon 1 VAR_039028 P04180:p.Arg164Cys SP substitution exon 1 VAR_039029 P04180:p.Ala165Thr SP substitution exon 1 VAR_039030 P04180:p.Ser205Asn SP substitution exon 1 VAR_039031 P04180:p.Lys242Asn SP substitution exon 1 VAR_039032 P04180:p.Arg268His SP substitution exon 1 VAR_039033 P04180:p.Thr298Ala SP substitution exon 1 VAR_039034 P04180:p.Thr298Ile SP substitution exon 1 VAR_039035 P04180:p.Pro331Ser SP substitution exon 1 VAR_039036 P04180:p.Val333Met SP substitution exon 1 VAR_039037 P04180:p.Leu396Arg SP substitution exon 1 VAR_039038 P04180:p.Phe406Val SP substitution exon 1 VAR_039039 Q9NXB9:p.Thr216Ala SP substitution exon 1 VAR_039040 Q9NXB9:p.Val225Met SP substitution exon 1 VAR_039041 P50570:p.Ala618Thr SP substitution exon 1 VAR_039042 P50570:p.Ser619Leu SP substitution exon 1 VAR_039043 P50570:p.Ser619Trp SP substitution exon 1 VAR_039045 Q96RR1:p.Thr457Ile SP substitution exon 1 VAR_039046 Q6UXH0:p.Arg59Trp SP substitution exon 1 VAR_039048 Q92626:p.Gln1261Arg SP substitution exon 1 VAR_039049 Q8N4T8:p.Leu70Met SP substitution exon 1 VAR_039050 A5PLN7:p.Lys332Glu SP substitution exon 1 VAR_039051 A5PLN7:p.Lys437Glu SP substitution exon 1 VAR_039056 Q9BT25:p.Gly83Arg SP substitution exon 1 VAR_039057 Q5R387:p.Gln139Arg SP substitution exon 1 VAR_039058 Q09666:p.Gly962Val SP substitution exon 1 VAR_039059 Q09666:p.Ala2114Thr SP substitution exon 1 VAR_039060 Q09666:p.Pro2439Leu SP substitution exon 1 VAR_039061 Q09666:p.Gln3003Lys SP substitution exon 1 VAR_039062 Q09666:p.Val3190Ile SP substitution exon 1 VAR_039063 Q09666:p.Ser3724Pro SP substitution exon 1 VAR_039064 Q09666:p.Gly4561Asp SP substitution exon 1 VAR_039065 Q09666:p.Met4611Val SP substitution exon 1 VAR_039066 Q09666:p.Ile4613Val SP substitution exon 1 VAR_039067 Q09666:p.Asp4631Gly SP substitution exon 1 VAR_039068 Q09666:p.Thr5415Ala SP substitution exon 1 VAR_039069 Q8IVF2:p.Val1266Met SP substitution exon 1 VAR_039070 Q8IVF2:p.Leu1470Val SP substitution exon 1 VAR_039071 Q8IVF2:p.Ser2115Arg SP substitution exon 1 VAR_039072 Q8IVF2:p.Asp2429Glu SP substitution exon 1 VAR_039073 Q8IVF2:p.Leu2430Val SP substitution exon 1 VAR_039074 Q8IVF2:p.Val2616Ala SP substitution exon 1 VAR_039075 Q8IVF2:p.Leu5028Met SP substitution exon 1 VAR_039076 Q8IVF2:p.Gly5564Arg SP substitution exon 1 VAR_039077 Q9UL12:p.Gly22Cys SP substitution exon 1 VAR_039078 Q9UL12:p.Glu372Asp SP substitution exon 1 VAR_039079 P45381:p.Ile16Thr SP substitution exon 1 VAR_039080 P45381:p.Gly27Arg SP substitution exon 1 VAR_039081 P45381:p.Asp114Glu SP substitution exon 1 VAR_039082 P45381:p.Gly123Glu SP substitution exon 1 VAR_039083 P45381:p.Cys152Tyr SP substitution exon 1 VAR_039084 P45381:p.Arg168Cys SP substitution exon 1 VAR_039085 P45381:p.Pro183His SP substitution exon 1 VAR_039086 P45381:p.Val186Phe SP substitution exon 1 VAR_039087 P45381:p.Met195Arg SP substitution exon 1 VAR_039088 P45381:p.Pro280Leu SP substitution exon 1 VAR_039089 P45381:p.Pro280Ser SP substitution exon 1 VAR_039090 P45381:p.Ala287Thr SP substitution exon 1 VAR_039091 P45381:p.Cys310Gly SP substitution exon 1 VAR_039092 Q9UM01:p.Thr5Ile SP substitution exon 1 VAR_039094 Q9UM01:p.Ser53Leu SP substitution exon 1 VAR_039095 Q9UM01:p.Ala91Val SP substitution exon 1 VAR_039096 Q9UM01:p.Leu124Pro SP substitution exon 1 VAR_039097 Q9UM01:p.Ala140Pro SP substitution exon 1 VAR_039098 Q9UM01:p.Phe152Leu SP substitution exon 1 VAR_039099 Q9UM01:p.Arg159Cys SP substitution exon 1 VAR_039100 Q9UM01:p.Lys191Glu SP substitution exon 1 VAR_039101 Q9UM01:p.Glu251Asp SP substitution exon 1 VAR_039102 Q9UM01:p.Leu261Pro SP substitution exon 1 VAR_039103 Q9UM01:p.Asn365Tyr SP substitution exon 1 VAR_039104 Q9UPW0:p.Val162Ala SP substitution exon 1 VAR_039105 Q9UPW0:p.Thr377Pro SP substitution exon 1 VAR_039106 Q13285:p.Cys33Ser SP substitution exon 1 VAR_039107 Q13285:p.Arg84His SP substitution exon 1 VAR_039108 Q13285:p.Gly146Ala SP substitution exon 1 VAR_039109 A6H8M9:p.Arg5Lys SP substitution exon 1 VAR_039110 Q5T2T1:p.Lys322Arg SP substitution exon 1 VAR_039111 A2RUB6:p.Gln383Arg SP substitution exon 1 VAR_039112 A2RUB6:p.Arg460Gln SP substitution exon 1 VAR_039113 A2RUB6:p.Glu592Lys SP substitution exon 1 VAR_039114 Q9Y2G4:p.Gln122Glu SP substitution exon 1 VAR_039115 Q9Y2G4:p.Ile128Val SP substitution exon 1 VAR_039116 Q9Y2G4:p.Thr233Met SP substitution exon 1 VAR_039117 Q9Y2G4:p.Thr545Ala SP substitution exon 1 VAR_039118 P31151:p.Glu28Asp SP substitution exon 1 VAR_039119 Q9HBT6:p.Pro328His SP substitution exon 1 VAR_039120 Q9HBT6:p.Gln371Arg SP substitution exon 1 VAR_039121 Q9HBT6:p.Pro391Leu SP substitution exon 1 VAR_039122 Q2M1Z3:p.Pro221Leu SP substitution exon 1 VAR_039123 Q2M1Z3:p.Gly803Ser SP substitution exon 1 VAR_039124 Q2M1Z3:p.Ile1115Leu SP substitution exon 1 VAR_039125 Q2M1Z3:p.Val1366Met SP substitution exon 1 VAR_039126 Q2M1Z3:p.Thr1380Ile SP substitution exon 1 VAR_039128 Q8TDQ1:p.Val19Ala SP substitution exon 1 VAR_039129 Q496F6:p.Lys19Thr SP substitution exon 1 VAR_039130 Q496F6:p.Thr27Ala SP substitution exon 1 VAR_039131 Q496F6:p.Gly158Arg SP substitution exon 1 VAR_039133 Q08708:p.Thr71Ile SP substitution exon 1 VAR_039134 O75054:p.Ser51Pro SP substitution exon 1 VAR_039137 O95976:p.Gln74Arg SP substitution exon 1 VAR_039138 O95976:p.Phe173Ser SP substitution exon 1 VAR_039140 Q8NEV9:p.Ser59Ala SP substitution exon 1 VAR_039141 Q8NEV9:p.Leu119Pro SP substitution exon 1 VAR_039142 Q9UP83:p.Phe330Leu SP substitution exon 1 VAR_039143 Q9UP83:p.Ser558Pro SP substitution exon 1 VAR_039144 Q9BZV3:p.Lys344Asn SP substitution exon 1 VAR_039145 Q9BZV3:p.Thr674Ile SP substitution exon 1 VAR_039146 Q9BZV3:p.Pro1013Leu SP substitution exon 1 VAR_039147 Q8NEF3:p.His32Leu SP substitution exon 1 VAR_039148 Q8NEF3:p.Ser144Asn SP substitution exon 1 VAR_039149 Q8NEF3:p.Lys341Asn SP substitution exon 1 VAR_039150 Q8NEF3:p.Glu354Gly SP substitution exon 1 VAR_039152 Q5BIV9:p.Thr7Met SP substitution exon 1 VAR_039153 Q4LDE5:p.Gly332Ala SP substitution exon 1 VAR_039154 Q4LDE5:p.Gly428Ser SP substitution exon 1 VAR_039155 Q4LDE5:p.Val507Ile SP substitution exon 1 VAR_039156 Q4LDE5:p.Gln581His SP substitution exon 1 VAR_039157 Q4LDE5:p.Ile637Val SP substitution exon 1 VAR_039158 Q4LDE5:p.Lys899Arg SP substitution exon 1 VAR_039159 Q4LDE5:p.Ile1157Val SP substitution exon 1 VAR_039160 Q4LDE5:p.Leu1330Met SP substitution exon 1 VAR_039161 Q4LDE5:p.Lys1416Gln SP substitution exon 1 VAR_039162 Q4LDE5:p.Met1444Leu SP substitution exon 1 VAR_039163 Q4LDE5:p.Leu1648Val SP substitution exon 1 VAR_039164 Q4LDE5:p.Glu1810Ala SP substitution exon 1 VAR_039165 Q4LDE5:p.Arg1953Lys SP substitution exon 1 VAR_039166 Q4LDE5:p.Thr2607Ala SP substitution exon 1 VAR_039167 Q4LDE5:p.Ala2750Val SP substitution exon 1 VAR_039168 Q4LDE5:p.Ile2922Val SP substitution exon 1 VAR_039169 Q4LDE5:p.Phe3161Ile SP substitution exon 1 VAR_039170 Q4LDE5:p.Pro3230Thr SP substitution exon 1 VAR_039171 Q4LDE5:p.Thr3559Met SP substitution exon 1 VAR_039173 Q8N9W4:p.Arg43Gly SP substitution exon 1 VAR_039174 Q8N9W4:p.Asn54His SP substitution exon 1 VAR_039175 Q8N9W4:p.Glu64Gly SP substitution exon 1 VAR_039176 Q8N9W4:p.Trp191Arg SP substitution exon 1 VAR_039177 Q8N9W4:p.Arg235Pro SP substitution exon 1 VAR_039180 Q9NQR4:p.Val231Ala SP substitution exon 1 VAR_039181 Q6JBY9:p.Gln384Arg SP substitution exon 1 VAR_039182 Q9UP83:p.Ile365Val SP substitution exon 1 VAR_039183 Q5VY80:p.Arg26Gly SP substitution exon 1 VAR_039184 Q5VY80:p.Met85Thr SP substitution exon 1 VAR_039185 Q5VY80:p.Leu106Arg SP substitution exon 1 VAR_039186 O75807:p.Arg31His SP substitution exon 1 VAR_039187 O75807:p.Ala32Thr SP substitution exon 1 VAR_039188 O75807:p.Val199Ala SP substitution exon 1 VAR_039189 O75807:p.Arg251Pro SP substitution exon 1 VAR_039190 O75807:p.Lys277Glu SP substitution exon 1 VAR_039191 O75807:p.Ala316Pro SP substitution exon 1 VAR_039192 O75807:p.Ala381Val SP substitution exon 1 VAR_039193 O75807:p.Arg476Ser SP substitution exon 1 VAR_039194 O75807:p.Arg594Cys SP substitution exon 1 VAR_039195 O75807:p.Thr597Ala SP substitution exon 1 VAR_039196 Q5SWA1:p.Pro26Ser SP substitution exon 1 VAR_039197 Q5SWA1:p.Glu144Lys SP substitution exon 1 VAR_039198 Q5SWA1:p.Asn308Ser SP substitution exon 1 VAR_039199 Q5SWA1:p.Glu363Gly SP substitution exon 1 VAR_039200 Q5SWA1:p.Lys589Glu SP substitution exon 1 VAR_039201 Q53S99:p.Glu104Gln SP substitution exon 1 VAR_039202 Q9ULE4:p.Asn952Ser SP substitution exon 1 VAR_039203 Q9ULE4:p.Val1042Ala SP substitution exon 1 VAR_039204 Q9BRF8:p.Ala19Asp SP substitution exon 1 VAR_039205 Q9BRF8:p.Val86Ile SP substitution exon 1 VAR_039206 Q9BRF8:p.Lys241Arg SP substitution exon 1 VAR_039207 Q9BRF8:p.His290Pro SP substitution exon 1 VAR_039208 Q9H628:p.Met163Val SP substitution exon 1 VAR_039209 Q6GPH6:p.Gly280Arg SP substitution exon 1 VAR_039210 Q6GPH6:p.Ser428Cys SP substitution exon 1 VAR_039211 Q6GPH6:p.Thr463Met SP substitution exon 1 VAR_039212 Q4G0A6:p.Asp183Ala SP substitution exon 1 VAR_039213 Q4G0A6:p.Ser262Leu SP substitution exon 1 VAR_039214 Q4G0A6:p.Thr322Met SP substitution exon 1 VAR_039215 Q4G0A6:p.Arg324Lys SP substitution exon 1 VAR_039216 Q4G0A6:p.Ala355Val SP substitution exon 1 VAR_039217 Q4G0A6:p.Met655Val SP substitution exon 1 VAR_039218 Q8N944:p.Ser340Pro SP substitution exon 1 VAR_039219 A5D8W1:p.Ser22Arg SP substitution exon 1 VAR_039220 A5D8W1:p.Arg306Cys SP substitution exon 1 VAR_039221 A5D8W1:p.Pro459Leu SP substitution exon 1 VAR_039222 A5D8W1:p.Val490Met SP substitution exon 1 VAR_039223 A5D8W1:p.Thr885Met SP substitution exon 1 VAR_039224 Q8N9V7:p.Cys43Arg SP substitution exon 1 VAR_039225 Q8N9V7:p.Pro88Gln SP substitution exon 1 VAR_039226 Q8N9V7:p.Val196Ile SP substitution exon 1 VAR_039227 Q8N9V7:p.Gln483Arg SP substitution exon 1 VAR_039228 Q8N9V7:p.Pro673Ala SP substitution exon 1 VAR_039229 Q8N9V7:p.Lys796Glu SP substitution exon 1 VAR_039230 Q8N9V7:p.Gln1352Arg SP substitution exon 1 VAR_039231 Q9NRP0:p.Phe9Leu SP substitution exon 1 VAR_039234 Q9H720:p.Pro2Thr SP substitution exon 1 VAR_039236 Q05C16:p.Met137Val SP substitution exon 1 VAR_039237 Q05C16:p.Met206Val SP substitution exon 1 VAR_039238 Q05C16:p.Lys281Arg SP substitution exon 1 VAR_039239 Q05C16:p.Thr282Ala SP substitution exon 1 VAR_039240 Q3ZCM7:p.Leu345Phe SP substitution exon 1 VAR_039248 O60290:p.Ile178Thr SP substitution exon 1 VAR_039255 Q8TBR4:p.Glu116Gln SP substitution exon 1 VAR_039256 Q96KJ4:p.Ala139Thr SP substitution exon 1 VAR_039257 Q96KJ4:p.Asp463Val SP substitution exon 1 VAR_039258 Q96KJ4:p.Ser597Gly SP substitution exon 1 VAR_039260 Q96L16:p.Asn52Ser SP substitution exon 1 VAR_039261 Q9Y2I9:p.Gln296His SP substitution exon 1 VAR_039263 Q2M3C7:p.Gly425Arg SP substitution exon 1 VAR_039264 Q2M3C7:p.Lys617Glu SP substitution exon 1 VAR_039265 Q2M3C7:p.His847Gln SP substitution exon 1 VAR_039266 Q2M3C7:p.Gln867Arg SP substitution exon 1 VAR_039267 Q9C0F0:p.Asn954Ser SP substitution exon 1 VAR_039268 Q9C0F0:p.Met1415Arg SP substitution exon 1 VAR_039269 Q9C0F0:p.Val1652Met SP substitution exon 1 VAR_039270 Q9C0F0:p.Met1708Val SP substitution exon 1 VAR_039271 Q15750:p.Asp224Glu SP substitution exon 1 VAR_039272 A8MPX8:p.Arg37His SP substitution exon 1 VAR_039273 A8MPX8:p.Phe123Leu SP substitution exon 1 VAR_039274 A8MPX8:p.Ala260Thr SP substitution exon 1 VAR_039276 Q9HCI6:p.Phe75Leu SP substitution exon 1 VAR_039277 Q9HCI6:p.Val81Met SP substitution exon 1 VAR_039279 P23945:p.Ser128Tyr SP substitution exon 1 VAR_039280 P23945:p.Asp224Val SP substitution exon 1 VAR_039281 P23945:p.Pro348Arg SP substitution exon 1 VAR_039282 P23945:p.Thr449Ala SP substitution exon 1 VAR_039283 P23945:p.Pro519Thr SP substitution exon 1 VAR_039284 P23945:p.Ile545Thr SP substitution exon 1 VAR_039285 P23945:p.Asp567Gly SP substitution exon 1 VAR_039286 P23945:p.Leu601Val SP substitution exon 1 VAR_039287 O75072:p.Arg179Thr SP substitution exon 1 VAR_039288 O75072:p.Arg307Gln SP substitution exon 1 VAR_039290 P02730:p.Glu68Lys SP substitution exon 1 VAR_039291 P02730:p.Leu73Met SP substitution exon 1 VAR_039298 Q86XE0:p.His155Asn SP substitution exon 1 VAR_039299 Q86XE0:p.Ala282Val SP substitution exon 1 VAR_039300 Q86XE0:p.Ser354Tyr SP substitution exon 1 VAR_039301 P25942:p.Cys26Gln SP substitution exon 1 VAR_039302 P25942:p.Ser35Gly SP substitution exon 1 VAR_039303 P25942:p.Ser39Thr SP substitution exon 1 VAR_039304 Q9ULI1:p.Leu569Met SP substitution exon 1 VAR_039305 A6NGR9:p.His97Gln SP substitution exon 1 VAR_039306 A6NGR9:p.Val132Ala SP substitution exon 1 VAR_039307 A6NGR9:p.Thr134Ile SP substitution exon 1 VAR_039308 Q96M86:p.Val240Glu SP substitution exon 1 VAR_039309 Q96M86:p.Asp317Asn SP substitution exon 1 VAR_039310 Q96M86:p.His418Tyr SP substitution exon 1 VAR_039311 Q96M86:p.Gln560Glu SP substitution exon 1 VAR_039312 Q8WUF8:p.Ser131Asn SP substitution exon 1 VAR_039313 Q4ZG55:p.Asn77Thr SP substitution exon 1 VAR_039314 Q4ZG55:p.Val122Ala SP substitution exon 1 VAR_039315 Q4ZG55:p.Val346Met SP substitution exon 1 VAR_039316 Q4ZG55:p.Arg973Gln SP substitution exon 1 VAR_039317 Q4ZG55:p.Tyr1463Cys SP substitution exon 1 VAR_039318 Q4ZG55:p.Asp1687Asn SP substitution exon 1 VAR_039319 Q4ZG55:p.Leu1814Val SP substitution exon 1 VAR_039320 Q9BWK5:p.Pro82Leu SP substitution exon 1 VAR_039321 Q6UQ28:p.Ser142Pro SP substitution exon 1 VAR_039322 O15244:p.Pro54Ser SP substitution exon 1 VAR_039323 O15244:p.Met165Ile SP substitution exon 1 VAR_039324 O15244:p.Thr201Met SP substitution exon 1 VAR_039325 O15244:p.Ser270Ala SP substitution exon 1 VAR_039326 O15244:p.Ala297Gly SP substitution exon 1 VAR_039327 O15244:p.Arg400Cys SP substitution exon 1 VAR_039328 O15244:p.Lys432Gln SP substitution exon 1 VAR_039329 O15244:p.Arg463Lys SP substitution exon 1 VAR_039330 Q96JA4:p.Asn177Tyr SP substitution exon 1 VAR_039332 Q71U36:p.Ile188Leu SP substitution exon 1 VAR_039333 Q71U36:p.Pro263Thr SP substitution exon 1 VAR_039334 Q71U36:p.Arg264Cys SP substitution exon 1 VAR_039335 Q71U36:p.Leu286Phe SP substitution exon 1 VAR_039336 Q71U36:p.Arg402Cys SP substitution exon 1 VAR_039337 Q71U36:p.Arg402His SP substitution exon 1 VAR_039338 Q71U36:p.Ser419Leu SP substitution exon 1 VAR_039339 Q6NZ63:p.Ile7Val SP substitution exon 1 VAR_039340 Q6NZ63:p.Gln29Arg SP substitution exon 1 VAR_039341 Q6NZ63:p.Arg166Met SP substitution exon 1 VAR_039342 Q6NZ63:p.Ile210Thr SP substitution exon 1 VAR_039344 Q5R3I4:p.Phe243Leu SP substitution exon 1 VAR_039345 Q6P4H8:p.Thr75Met SP substitution exon 1 VAR_039346 Q6P4H8:p.Ala105Val SP substitution exon 1 VAR_039347 Q6P4H8:p.Val114Ala SP substitution exon 1 VAR_039348 Q6P4H8:p.Leu229Met SP substitution exon 1 VAR_039349 Q96EY4:p.Gln65Pro SP substitution exon 1 VAR_039350 Q96EY4:p.Ile176Thr SP substitution exon 1 VAR_039351 Q8TBZ9:p.Asp48His SP substitution exon 1 VAR_039352 Q8TBZ9:p.Ile126Val SP substitution exon 1 VAR_039353 Q8TBZ9:p.Cys186Ser SP substitution exon 1 VAR_039354 Q8TBZ9:p.Glu221Lys SP substitution exon 1 VAR_039355 Q8TBZ9:p.Glu221Ala SP substitution exon 1 VAR_039356 Q8N0U4:p.Gly60Ala SP substitution exon 1 VAR_039357 A0PJW6:p.Thr28Ala SP substitution exon 1 VAR_039358 A0PJW6:p.Val196Gly SP substitution exon 1 VAR_039359 Q658L1:p.Ser8Gly SP substitution exon 1 VAR_039360 Q658L1:p.Pro34Leu SP substitution exon 1 VAR_039361 Q658L1:p.Trp225Arg SP substitution exon 1 VAR_039369 Q68CR1:p.Ile401Val SP substitution exon 1 VAR_039370 Q6NUQ4:p.Val351Met SP substitution exon 1 VAR_039371 Q96MD2:p.Met139Ile SP substitution exon 1 VAR_039372 Q96MD2:p.Ala443Ser SP substitution exon 1 VAR_039373 Q96EG3:p.Gln153Arg SP substitution exon 1 VAR_039374 Q8TCD1:p.Pro37His SP substitution exon 1 VAR_039375 Q7Z4H9:p.Gly71Arg SP substitution exon 1 VAR_039376 Q7Z4H9:p.Arg127Gln SP substitution exon 1 VAR_039377 Q7Z4H9:p.Val161Leu SP substitution exon 1 VAR_039378 Q7Z4H9:p.Val198Met SP substitution exon 1 VAR_039379 Q7Z4H9:p.Gly237Ser SP substitution exon 1 VAR_039380 Q6GTS8:p.His33Tyr SP substitution exon 1 VAR_039381 Q6GTS8:p.Ile149Val SP substitution exon 1 VAR_039382 Q6GTS8:p.Arg153Trp SP substitution exon 1 VAR_039383 Q6GTS8:p.Ile237Thr SP substitution exon 1 VAR_039384 Q6GTS8:p.Ser258Cys SP substitution exon 1 VAR_039385 Q6GTS8:p.Gly346Arg SP substitution exon 1 VAR_039386 Q6GTS8:p.Ile380Thr SP substitution exon 1 VAR_039387 Q1ED39:p.Ala266Val SP substitution exon 1 VAR_039388 Q6ZSS7:p.Arg205Gly SP substitution exon 1 VAR_039389 Q8IWD5:p.Arg486His SP substitution exon 1 VAR_039390 Q9HCM7:p.Leu367Pro SP substitution exon 1 VAR_039391 A4QPH2:p.Glu223Gln SP substitution exon 1 VAR_039393 Q68CZ1:p.Thr615Pro SP substitution exon 1 VAR_039394 Q68CZ1:p.Thr677Ile SP substitution exon 1 VAR_039395 Q68CZ1:p.Ala695Pro SP substitution exon 1 VAR_039396 Q68CZ1:p.Arg744Gln SP substitution exon 1 VAR_039397 Q68CZ1:p.Gly1025Ser SP substitution exon 1 VAR_039399 Q9ULH0:p.Arg1307His SP substitution exon 1 VAR_039400 Q9ULH0:p.Gln1608His SP substitution exon 1 VAR_039401 Q9BUA6:p.Met46Thr SP substitution exon 1 VAR_039402 Q86VW2:p.Cys253Tyr SP substitution exon 1 VAR_039403 Q86VW2:p.Gly397Arg SP substitution exon 1 VAR_039405 Q6PEX7:p.Asp104Glu SP substitution exon 1 VAR_039407 Q9P225:p.Ala100Val SP substitution exon 1 VAR_039408 Q9P225:p.Ser312Thr SP substitution exon 1 VAR_039409 Q9P225:p.Glu1326Gly SP substitution exon 1 VAR_039410 Q9P225:p.Arg2548His SP substitution exon 1 VAR_039411 Q9P225:p.Thr3600Ile SP substitution exon 1 VAR_039412 Q8TD57:p.Ile484Leu SP substitution exon 1 VAR_039413 Q8TD57:p.Arg545Trp SP substitution exon 1 VAR_039414 Q8TD57:p.Ile1565Met SP substitution exon 1 VAR_039415 Q8TD57:p.Val1583Ile SP substitution exon 1 VAR_039416 Q8TD57:p.Ser1608Phe SP substitution exon 1 VAR_039417 Q8TD57:p.Thr1752Met SP substitution exon 1 VAR_039418 Q8TD57:p.Ile2399Asn SP substitution exon 1 VAR_039419 Q8TD57:p.Ile2804Val SP substitution exon 1 VAR_039420 Q8TD57:p.Lys2949Thr SP substitution exon 1 VAR_039421 Q8TD57:p.Glu3457Lys SP substitution exon 1 VAR_039422 Q8TD57:p.Leu3639Ile SP substitution exon 1 VAR_039423 Q8TD57:p.Arg3645Cys SP substitution exon 1 VAR_039424 Q8TD57:p.Arg3744Trp SP substitution exon 1 VAR_039425 Q96DR7:p.Val29Leu SP substitution exon 1 VAR_039426 Q96DR7:p.Phe203Ser SP substitution exon 1 VAR_039427 Q7Z442:p.Val20Ala SP substitution exon 1 VAR_039428 Q7Z442:p.Trp73Arg SP substitution exon 1 VAR_039429 Q7Z442:p.Lys77Asn SP substitution exon 1 VAR_039430 Q7Z442:p.Gln120Leu SP substitution exon 1 VAR_039431 Q7Z442:p.Gly129Asp SP substitution exon 1 VAR_039432 Q7Z442:p.Val156Ile SP substitution exon 1 VAR_039433 Q7Z442:p.Cys162Ser SP substitution exon 1 VAR_039434 Q7Z442:p.Val169Met SP substitution exon 1 VAR_039435 Q7Z442:p.Leu173Ser SP substitution exon 1 VAR_039436 Q7Z442:p.Val183Ile SP substitution exon 1 VAR_039437 Q7Z442:p.Gly205Arg SP substitution exon 1 VAR_039438 Q7Z442:p.Glu221Gly SP substitution exon 1 VAR_039439 Q7Z442:p.Arg252Trp SP substitution exon 1 VAR_039440 Q7Z442:p.Pro301Ala SP substitution exon 1 VAR_039441 Q7Z442:p.Asn407Ser SP substitution exon 1 VAR_039442 Q7Z442:p.Lys416Gln SP substitution exon 1 VAR_039443 Q7Z442:p.Leu462Val SP substitution exon 1 VAR_039444 Q7Z442:p.Pro512Leu SP substitution exon 1 VAR_039445 Q7Z442:p.Arg636His SP substitution exon 1 VAR_039446 Q7Z442:p.Leu711Pro SP substitution exon 1 VAR_039447 Q7Z442:p.Gly785Cys SP substitution exon 1 VAR_039448 Q7Z442:p.Arg849His SP substitution exon 1 VAR_039449 Q7Z442:p.Ala863Val SP substitution exon 1 VAR_039450 Q7Z442:p.Leu919Met SP substitution exon 1 VAR_039451 Q7Z442:p.Leu1036Pro SP substitution exon 1 VAR_039452 Q7Z442:p.Met1042Val SP substitution exon 1 VAR_039453 Q7Z443:p.Ile120Phe SP substitution exon 1 VAR_039454 Q7Z443:p.Ser211Pro SP substitution exon 1 VAR_039455 Q7Z443:p.Lys274Glu SP substitution exon 1 VAR_039456 Q7Z443:p.Thr429Ser SP substitution exon 1 VAR_039457 Q7Z443:p.Ala471Asp SP substitution exon 1 VAR_039458 Q7Z443:p.His571Gln SP substitution exon 1 VAR_039459 Q7Z443:p.Val593Met SP substitution exon 1 VAR_039460 Q7Z443:p.Val903Ile SP substitution exon 1 VAR_039461 Q7Z443:p.Ser1176Arg SP substitution exon 1 VAR_039462 Q7Z443:p.Tyr1474Cys SP substitution exon 1 VAR_039463 Q8NFZ5:p.Ala396Val SP substitution exon 1 VAR_039464 Q96RN1:p.Val73Met SP substitution exon 1 VAR_039465 Q96RN1:p.Ile148Val SP substitution exon 1 VAR_039466 Q96RN1:p.Ser230Asn SP substitution exon 1 VAR_039467 Q96RN1:p.Ile639Val SP substitution exon 1 VAR_039468 Q86X27:p.Asn225Ser SP substitution exon 1 VAR_039470 Q8IWW8:p.Asp242Val SP substitution exon 1 VAR_039471 Q96N16:p.Lys251Arg SP substitution exon 1 VAR_039472 Q96N16:p.Ala375Val SP substitution exon 1 VAR_039473 Q5VZ66:p.Arg795Gly SP substitution exon 1 VAR_039474 P01133:p.Pro1070Leu SP substitution exon 1 VAR_039475 P55017:p.Thr60Met SP substitution exon 1 VAR_039476 P55017:p.Asp62Asn SP substitution exon 1 VAR_039477 P55017:p.Glu68Lys SP substitution exon 1 VAR_039478 P55017:p.His69Asn SP substitution exon 1 VAR_039479 P55017:p.His90Tyr SP substitution exon 1 VAR_039480 P55017:p.Arg145His SP substitution exon 1 VAR_039481 P55017:p.Val153Met SP substitution exon 1 VAR_039482 P55017:p.Ile154Phe SP substitution exon 1 VAR_039483 P55017:p.Arg158Gln SP substitution exon 1 VAR_039484 P55017:p.Thr163Met SP substitution exon 1 VAR_039485 P55017:p.Trp172Arg SP substitution exon 1 VAR_039486 P55017:p.Ser178Leu SP substitution exon 1 VAR_039487 P55017:p.Thr180Lys SP substitution exon 1 VAR_039488 P55017:p.Gly186Asp SP substitution exon 1 VAR_039489 P55017:p.Arg209Gln SP substitution exon 1 VAR_039490 P55017:p.Leu215Pro SP substitution exon 1 VAR_039491 P55017:p.Ala226Thr SP substitution exon 1 VAR_039492 P55017:p.Gly230Asp SP substitution exon 1 VAR_039493 P55017:p.Arg261His SP substitution exon 1 VAR_039494 P55017:p.Ala264Gly SP substitution exon 1 VAR_039495 P55017:p.Ser283Tyr SP substitution exon 1 VAR_039496 P55017:p.Lys284Arg SP substitution exon 1 VAR_039497 P55017:p.Thr304Pro SP substitution exon 1 VAR_039498 P55017:p.Ala313Val SP substitution exon 1 VAR_039499 P55017:p.Gly316Val SP substitution exon 1 VAR_039500 P55017:p.Arg321Trp SP substitution exon 1 VAR_039501 P55017:p.Arg334Trp SP substitution exon 1 VAR_039502 P55017:p.Gly342Ala SP substitution exon 1 VAR_039503 P55017:p.Gly374Val SP substitution exon 1 VAR_039504 P55017:p.Arg399Cys SP substitution exon 1 VAR_039505 P55017:p.Gly439Ser SP substitution exon 1 VAR_039506 P55017:p.Gly463Glu SP substitution exon 1 VAR_039507 P55017:p.Ala464Thr SP substitution exon 1 VAR_039508 P55017:p.Lys478Glu SP substitution exon 1 VAR_039509 P55017:p.Leu542Pro SP substitution exon 1 VAR_039510 P55017:p.Ser555Leu SP substitution exon 1 VAR_039511 P55017:p.Pro560His SP substitution exon 1 VAR_039512 P55017:p.Ala569Glu SP substitution exon 1 VAR_039513 P55017:p.Ala569Val SP substitution exon 1 VAR_039514 P55017:p.Val578Met SP substitution exon 1 VAR_039515 P55017:p.Gly613Ser SP substitution exon 1 VAR_039516 P55017:p.Ser615Leu SP substitution exon 1 VAR_039517 P55017:p.Ser615Trp SP substitution exon 1 VAR_039518 P55017:p.Leu623Pro SP substitution exon 1 VAR_039519 P55017:p.Arg642Cys SP substitution exon 1 VAR_039520 P55017:p.Arg642Gly SP substitution exon 1 VAR_039521 P55017:p.Arg642His SP substitution exon 1 VAR_039522 P55017:p.Pro643Leu SP substitution exon 1 VAR_039523 P55017:p.Thr649Arg SP substitution exon 1 VAR_039524 P55017:p.Arg655Cys SP substitution exon 1 VAR_039525 P55017:p.Met672Ile SP substitution exon 1 VAR_039526 P55017:p.Val677Leu SP substitution exon 1 VAR_039527 P55017:p.Val677Met SP substitution exon 1 VAR_039528 P55017:p.Gly729Val SP substitution exon 1 VAR_039529 P55017:p.Gly731Arg SP substitution exon 1 VAR_039530 P55017:p.Leu738Arg SP substitution exon 1 VAR_039531 P55017:p.Leu849His SP substitution exon 1 VAR_039532 P55017:p.Arg852Cys SP substitution exon 1 VAR_039533 P55017:p.Arg852His SP substitution exon 1 VAR_039534 P55017:p.Arg852Ser SP substitution exon 1 VAR_039535 P55017:p.Gly867Ser SP substitution exon 1 VAR_039536 P55017:p.Arg871His SP substitution exon 1 VAR_039537 P55017:p.Arg904Gln SP substitution exon 1 VAR_039538 P55017:p.Arg919Cys SP substitution exon 1 VAR_039539 P55017:p.Arg958Gly SP substitution exon 1 VAR_039540 P55017:p.Cys985Tyr SP substitution exon 1 VAR_039542 O95965:p.Ala154Ser SP substitution exon 1 VAR_039546 Q96D46:p.Glu6Lys SP substitution exon 1 VAR_039547 Q9BYH8:p.Thr307Ser SP substitution exon 1 VAR_039548 Q6BDI9:p.Asn101Asp SP substitution exon 1 VAR_039549 Q6BDI9:p.Glu206Asp SP substitution exon 1 VAR_039550 Q9NRF2:p.Thr484Ala SP substitution exon 1 VAR_039551 Q9NRF2:p.Val541Ala SP substitution exon 1 VAR_039552 O94985:p.Val474Ala SP substitution exon 1 VAR_039553 O94985:p.Ser524Cys SP substitution exon 1 VAR_039554 O94985:p.Pro583Arg SP substitution exon 1 VAR_039555 O94985:p.Pro857His SP substitution exon 1 VAR_039556 O94985:p.Phe870Ser SP substitution exon 1 VAR_039557 Q9H4D0:p.Val366Ile SP substitution exon 1 VAR_039558 Q2WGJ9:p.Asp1110Glu SP substitution exon 1 VAR_039559 Q7Z7A1:p.Val56Ile SP substitution exon 1 VAR_039560 Q7Z7A1:p.Pro216Leu SP substitution exon 1 VAR_039561 Q7Z7A1:p.Ala889Thr SP substitution exon 1 VAR_039562 P12883:p.Met515Val SP substitution exon 1 VAR_039563 P12883:p.Arg858Cys SP substitution exon 1 VAR_039566 P27816:p.Arg23Gln SP substitution exon 1 VAR_039567 P27816:p.Pro366Leu SP substitution exon 1 VAR_039568 P27816:p.Ser367Pro SP substitution exon 1 VAR_039569 P27816:p.Asp409Gly SP substitution exon 1 VAR_039570 P27816:p.Val628Ile SP substitution exon 1 VAR_039571 P27816:p.Ile994Val SP substitution exon 1 VAR_039572 O75677:p.Trp94Arg SP substitution exon 1 VAR_039574 Q9BVM2:p.Ser56Arg SP substitution exon 1 VAR_039575 Q9BVM2:p.Leu156Ser SP substitution exon 1 VAR_039576 Q86UV6:p.Trp13Arg SP substitution exon 1 VAR_039577 Q9Y222:p.Val479Ile SP substitution exon 1 VAR_039578 P51161:p.Arg33His SP substitution exon 1 VAR_039579 P51161:p.Ser55Tyr SP substitution exon 1 VAR_039580 P51161:p.Thr79Met SP substitution exon 1 VAR_039582 Q96SQ7:p.Leu150Pro SP substitution exon 1 VAR_039583 Q86XR2:p.Ile229Thr SP substitution exon 1 VAR_039584 Q86XR2:p.Leu543Phe SP substitution exon 1 VAR_039585 Q86XR2:p.Gly603Ser SP substitution exon 1 VAR_039586 O15391:p.Asp103Asn SP substitution exon 1 VAR_039587 O00255:p.Glu45Lys SP substitution exon 1 VAR_039588 O00255:p.Arg98Leu SP substitution exon 1 VAR_039589 O00255:p.Gly110Glu SP substitution exon 1 VAR_039590 O00255:p.His139Pro SP substitution exon 1 VAR_039591 O00255:p.His139Arg SP substitution exon 1 VAR_039592 O00255:p.Asp158Val SP substitution exon 1 VAR_039593 O00255:p.Ser159Ile SP substitution exon 1 VAR_039594 O00255:p.Ser160Phe SP substitution exon 1 VAR_039595 O00255:p.Ala165Thr SP substitution exon 1 VAR_039596 O00255:p.Val167Phe SP substitution exon 1 VAR_039597 O00255:p.Cys170Arg SP substitution exon 1 VAR_039598 O00255:p.Leu173Pro SP substitution exon 1 VAR_039599 O00255:p.Glu184Lys SP substitution exon 1 VAR_039600 O00255:p.Glu184Gln SP substitution exon 1 VAR_039601 O00255:p.His186Arg SP substitution exon 1 VAR_039602 O00255:p.Trp188Arg SP substitution exon 1 VAR_039603 O00255:p.Val220Met SP substitution exon 1 VAR_039604 O00255:p.Gly230Arg SP substitution exon 1 VAR_039605 O00255:p.Arg234Leu SP substitution exon 1 VAR_039606 O00255:p.Val245Phe SP substitution exon 1 VAR_039607 O00255:p.Cys246Phe SP substitution exon 1 VAR_039608 O00255:p.Cys246Tyr SP substitution exon 1 VAR_039609 O00255:p.Ser258Pro SP substitution exon 1 VAR_039610 O00255:p.Ser258Trp SP substitution exon 1 VAR_039611 O00255:p.Leu264Arg SP substitution exon 1 VAR_039612 O00255:p.Gln265Pro SP substitution exon 1 VAR_039614 O00255:p.Glu279Ala SP substitution exon 1 VAR_039615 O00255:p.Pro282His SP substitution exon 1 VAR_039616 O00255:p.Gly286Arg SP substitution exon 1 VAR_039617 O00255:p.Ala289Pro SP substitution exon 1 VAR_039618 O00255:p.Gly310Asp SP substitution exon 1 VAR_039619 O00255:p.Thr316Pro SP substitution exon 1 VAR_039620 O00255:p.His322Arg SP substitution exon 1 VAR_039621 O00255:p.His322Tyr SP substitution exon 1 VAR_039622 O00255:p.Pro325Leu SP substitution exon 1 VAR_039623 O00255:p.Pro325Arg SP substitution exon 1 VAR_039624 O00255:p.Ala330Pro SP substitution exon 1 VAR_039625 O00255:p.Ala342Pro SP substitution exon 1 VAR_039626 O00255:p.Ala347Pro SP substitution exon 1 VAR_039627 O00255:p.Ile353Asn SP substitution exon 1 VAR_039628 O00255:p.Tyr358Asp SP substitution exon 1 VAR_039629 O00255:p.Arg360Trp SP substitution exon 1 VAR_039630 O00255:p.Asp362His SP substitution exon 1 VAR_039631 O00255:p.Ile377Met SP substitution exon 1 VAR_039632 O00255:p.Pro378Ser SP substitution exon 1 VAR_039633 O00255:p.Ala390Val SP substitution exon 1 VAR_039634 O00255:p.Ala416Pro SP substitution exon 1 VAR_039635 O00255:p.Leu419Pro SP substitution exon 1 VAR_039636 O00255:p.Arg420Pro SP substitution exon 1 VAR_039637 O00255:p.Asp423His SP substitution exon 1 VAR_039638 O00255:p.Cys426Tyr SP substitution exon 1 VAR_039639 O00255:p.Trp428Ser SP substitution exon 1 VAR_039640 O00255:p.Ser432Arg SP substitution exon 1 VAR_039641 O00255:p.Trp441Cys SP substitution exon 1 VAR_039642 O00255:p.Leu449Pro SP substitution exon 1 VAR_039643 O00255:p.Arg532Cys SP substitution exon 1 VAR_039644 O00255:p.Pro545Ser SP substitution exon 1 VAR_039645 O00255:p.Pro549Ser SP substitution exon 1 VAR_039646 O00255:p.Thr557Ser SP substitution exon 1 VAR_039647 O00255:p.Ser560Arg SP substitution exon 1 VAR_039648 P0C6P0:p.Val33Ala SP substitution exon 1 VAR_039649 P0C6P0:p.Thr54Ile SP substitution exon 1 VAR_039650 P0C6P0:p.Cys81Arg SP substitution exon 1 VAR_039651 Q8WTP8:p.Pro15Leu SP substitution exon 1 VAR_039652 Q8WTP8:p.Ser88Cys SP substitution exon 1 VAR_039653 Q8WTP8:p.Asn140Asp SP substitution exon 1 VAR_039654 Q86WP2:p.Arg122Gly SP substitution exon 1 VAR_039655 Q9HC44:p.Pro192Ser SP substitution exon 1 VAR_039656 Q9HC44:p.Arg439His SP substitution exon 1 VAR_039657 Q8N1W1:p.Arg98Met SP substitution exon 1 VAR_039658 Q8N1W1:p.Trp225Arg SP substitution exon 1 VAR_039659 Q8N1W1:p.Pro284Gln SP substitution exon 1 VAR_039660 Q8N1W1:p.Ser544Leu SP substitution exon 1 VAR_039661 Q8N1W1:p.Arg585Lys SP substitution exon 1 VAR_039662 Q8N1W1:p.His780Asn SP substitution exon 1 VAR_039663 Q8N1W1:p.Pro1548Ser SP substitution exon 1 VAR_039664 Q8N1W1:p.His1640Gln SP substitution exon 1 VAR_039665 Q9HAS3:p.Arg4Lys SP substitution exon 1 VAR_039666 Q9HAS3:p.Ser5Asn SP substitution exon 1 VAR_039667 Q9HAS3:p.Asp62His SP substitution exon 1 VAR_039668 Q9HAS3:p.Arg67Lys SP substitution exon 1 VAR_039669 Q9HAS3:p.Tyr113Cys SP substitution exon 1 VAR_039670 Q9HAS3:p.Leu131Phe SP substitution exon 1 VAR_039671 Q9HAS3:p.Pro221Gln SP substitution exon 1 VAR_039672 Q9HAS3:p.Ile328Val SP substitution exon 1 VAR_039673 Q9HAS3:p.Arg349Gln SP substitution exon 1 VAR_039674 Q9HAS3:p.Gly367Arg SP substitution exon 1 VAR_039675 Q9HAS3:p.Leu418Ile SP substitution exon 1 VAR_039676 Q9HAS3:p.Tyr513Phe SP substitution exon 1 VAR_039677 Q9HAS3:p.Arg585His SP substitution exon 1 VAR_039678 Q9HAS3:p.Cys602Arg SP substitution exon 1 VAR_039679 Q92681:p.Phe62Leu SP substitution exon 1 VAR_039680 Q92681:p.Cys191Trp SP substitution exon 1 VAR_039681 Q92681:p.Asn271Ser SP substitution exon 1 VAR_039682 Q4U2R8:p.Leu7Pro SP substitution exon 1 VAR_039683 Q4U2R8:p.Arg50His SP substitution exon 1 VAR_039684 Q4U2R8:p.Arg293Trp SP substitution exon 1 VAR_039686 P53634:p.Tyr294His SP substitution exon 1 VAR_039687 Q96C92:p.Leu157Val SP substitution exon 1 VAR_039688 Q96C92:p.Glu176Gly SP substitution exon 1 VAR_039689 Q96C92:p.Arg304Gln SP substitution exon 1 VAR_039690 Q96C92:p.Val379Met SP substitution exon 1 VAR_039691 Q96C92:p.Val428Ile SP substitution exon 1 VAR_039692 Q8WWU5:p.Gly253Ala SP substitution exon 1 VAR_039693 Q8WWU5:p.Arg429Gln SP substitution exon 1 VAR_039694 A6NEQ2:p.Val186Leu SP substitution exon 1 VAR_039695 A6NEQ2:p.Arg367Pro SP substitution exon 1 VAR_039696 A6NLJ0:p.Phe276Val SP substitution exon 1 VAR_039697 A6NLJ0:p.Asp346Glu SP substitution exon 1 VAR_039698 Q6L8Q7:p.Arg23Trp SP substitution exon 1 VAR_039699 Q8N6P7:p.Ser130Pro SP substitution exon 1 VAR_039700 Q8N6P7:p.Val205Ile SP substitution exon 1 VAR_039701 Q8N6P7:p.Ala209Ser SP substitution exon 1 VAR_039702 Q8N6P7:p.Leu222Pro SP substitution exon 1 VAR_039703 Q8N6P7:p.Met407Val SP substitution exon 1 VAR_039705 P78559:p.Phe72Leu SP substitution exon 1 VAR_039706 P78559:p.Ala335Ser SP substitution exon 1 VAR_039707 P78559:p.Lys336Thr SP substitution exon 1 VAR_039708 P78559:p.Ala353Ser SP substitution exon 1 VAR_039709 P78559:p.Ala357Ser SP substitution exon 1 VAR_039710 P78559:p.Lys364Gln SP substitution exon 1 VAR_039711 P78559:p.Lys485Gln SP substitution exon 1 VAR_039712 P78559:p.Thr830Ala SP substitution exon 1 VAR_039713 P78559:p.Asn1078Ser SP substitution exon 1 VAR_039714 P78559:p.Ile1102Thr SP substitution exon 1 VAR_039715 P78559:p.Arg1185His SP substitution exon 1 VAR_039716 P78559:p.Asp1245Asn SP substitution exon 1 VAR_039717 P78559:p.Asp1461Asn SP substitution exon 1 VAR_039718 P78559:p.Gln1553His SP substitution exon 1 VAR_039719 P78559:p.Lys1605Asn SP substitution exon 1 VAR_039720 P78559:p.Trp1650Cys SP substitution exon 1 VAR_039721 P78559:p.Ala1690Ser SP substitution exon 1 VAR_039722 P78559:p.Pro1827Ala SP substitution exon 1 VAR_039723 P78559:p.Ala1881Pro SP substitution exon 1 VAR_039724 P78559:p.Ala1912Val SP substitution exon 1 VAR_039725 P78559:p.Ser1938Arg SP substitution exon 1 VAR_039726 P78559:p.Ser2056Arg SP substitution exon 1 VAR_039727 P78559:p.His2214Tyr SP substitution exon 1 VAR_039728 P78559:p.Asp2327Val SP substitution exon 1 VAR_039729 Q5JXC2:p.Lys99Asn SP substitution exon 1 VAR_039730 Q5JXC2:p.Pro142Ser SP substitution exon 1 VAR_039731 Q5JXC2:p.Lys167Glu SP substitution exon 1 VAR_039734 Q9NQE9:p.Gly36Ala SP substitution exon 1 VAR_039735 Q8IYA6:p.Leu19Phe SP substitution exon 1 VAR_039736 Q8IYA6:p.Lys26Arg SP substitution exon 1 VAR_039737 Q8IYA6:p.Asn62Ser SP substitution exon 1 VAR_039738 Q8IYA6:p.Thr104Ile SP substitution exon 1 VAR_039739 Q8IYA6:p.Arg263Ser SP substitution exon 1 VAR_039740 Q8IYA6:p.Ile375Val SP substitution exon 1 VAR_039741 Q8IYA6:p.Pro379Ala SP substitution exon 1 VAR_039742 Q8IYA6:p.Ser519Gly SP substitution exon 1 VAR_039745 P02545:p.Thr10Ile SP substitution exon 1 VAR_039746 P02545:p.Arg25Gly SP substitution exon 1 VAR_039747 P02545:p.Arg25Pro SP substitution exon 1 VAR_039748 P02545:p.Arg28Trp SP substitution exon 1 VAR_039750 P02545:p.Glu33Asp SP substitution exon 1 VAR_039751 P02545:p.Glu33Gly SP substitution exon 1 VAR_039752 P02545:p.Leu35Val SP substitution exon 1 VAR_039753 P02545:p.Ala43Thr SP substitution exon 1 VAR_039754 P02545:p.Arg50Ser SP substitution exon 1 VAR_039755 P02545:p.Arg62Gly SP substitution exon 1 VAR_039756 P02545:p.Ile63Asn SP substitution exon 1 VAR_039757 P02545:p.Glu65Gly SP substitution exon 1 VAR_039758 P02545:p.Arg89Leu SP substitution exon 1 VAR_039759 P02545:p.Lys97Glu SP substitution exon 1 VAR_039760 P02545:p.Leu140Pro SP substitution exon 1 VAR_039761 P02545:p.Ser143Pro SP substitution exon 1 VAR_039762 P02545:p.Thr150Pro SP substitution exon 1 VAR_039763 P02545:p.Arg190Gln SP substitution exon 1 VAR_039764 P02545:p.Arg190Trp SP substitution exon 1 VAR_039765 P02545:p.Asp192Gly SP substitution exon 1 VAR_039767 P02545:p.Glu203Lys SP substitution exon 1 VAR_039768 P02545:p.Leu215Pro SP substitution exon 1 VAR_039769 P02545:p.His222Pro SP substitution exon 1 VAR_039770 P02545:p.Asp230Asn SP substitution exon 1 VAR_039771 P02545:p.Gly232Glu SP substitution exon 1 VAR_039772 P02545:p.Leu248Pro SP substitution exon 1 VAR_039773 P02545:p.Lys260Asn SP substitution exon 1 VAR_039774 P02545:p.Tyr267Cys SP substitution exon 1 VAR_039775 P02545:p.Glu317Lys SP substitution exon 1 VAR_039776 P02545:p.Arg349Leu SP substitution exon 1 VAR_039777 P02545:p.Arg377Leu SP substitution exon 1 VAR_039778 P02545:p.Arg399Cys SP substitution exon 1 VAR_039779 P02545:p.Arg435Cys SP substitution exon 1 VAR_039780 P02545:p.Asp446Val SP substitution exon 1 VAR_039781 P02545:p.Asn456Ile SP substitution exon 1 VAR_039782 P02545:p.Asn456Lys SP substitution exon 1 VAR_039783 P02545:p.Tyr481His SP substitution exon 1 VAR_039784 P02545:p.Trp520Ser SP substitution exon 1 VAR_039785 P02545:p.Thr528Arg SP substitution exon 1 VAR_039786 P02545:p.Arg541Cys SP substitution exon 1 VAR_039787 P02545:p.Arg541His SP substitution exon 1 VAR_039788 P02545:p.Arg541Ser SP substitution exon 1 VAR_039789 P02545:p.Ser573Leu SP substitution exon 1 VAR_039790 P02545:p.Glu578Val SP substitution exon 1 VAR_039791 P02545:p.Arg624His SP substitution exon 1 VAR_039792 P02545:p.Arg644Cys SP substitution exon 1 VAR_039793 Q6P1J6:p.Val212Leu SP substitution exon 1 VAR_039794 Q6P1J6:p.Met708Val SP substitution exon 1 VAR_039795 Q6P1J6:p.Gly821Arg SP substitution exon 1 VAR_039796 Q6P1J6:p.His879Asp SP substitution exon 1 VAR_039797 Q6P1J6:p.Ala1318Val SP substitution exon 1 VAR_039798 Q7L985:p.Arg507His SP substitution exon 1 VAR_039799 A2PYH4:p.Ser115Pro SP substitution exon 1 VAR_039800 A2PYH4:p.Ile117Val SP substitution exon 1 VAR_039803 Q9BU23:p.Pro68Leu SP substitution exon 1 VAR_039804 Q9BU23:p.Thr479Met SP substitution exon 1 VAR_039805 Q3SXZ7:p.Tyr76Cys SP substitution exon 1 VAR_039806 Q6ZVT0:p.Ala130Thr SP substitution exon 1 VAR_039807 Q6ZVT0:p.Val249Ala SP substitution exon 1 VAR_039808 Q6ZVT0:p.Ser448Asn SP substitution exon 1 VAR_039809 Q9BSK4:p.His500Tyr SP substitution exon 1 VAR_039812 A1E959:p.Ile222Thr SP substitution exon 1 VAR_039813 A1E959:p.Glu269Asp SP substitution exon 1 VAR_039814 Q86XI6:p.Gly48Glu SP substitution exon 1 VAR_039815 O95428:p.Ser33Gly SP substitution exon 1 VAR_039816 O95428:p.Ala191Thr SP substitution exon 1 VAR_039817 O95428:p.Asn356His SP substitution exon 1 VAR_039818 O95428:p.Val443Ile SP substitution exon 1 VAR_039819 O95428:p.Ala461Val SP substitution exon 1 VAR_039820 O95428:p.His628Arg SP substitution exon 1 VAR_039821 O95428:p.Gln723His SP substitution exon 1 VAR_039822 O95428:p.Gly896Arg SP substitution exon 1 VAR_039823 O95428:p.Leu1192Val SP substitution exon 1 VAR_039824 O95428:p.Thr1201Met SP substitution exon 1 VAR_039825 O95428:p.Ser1260Thr SP substitution exon 1 VAR_039826 Q9H089:p.Leu92Pro SP substitution exon 1 VAR_039827 Q9H089:p.Lys267Glu SP substitution exon 1 VAR_039831 A8MXV4:p.Arg43Gln SP substitution exon 1 VAR_039832 Q8N3T6:p.His161Arg SP substitution exon 1 VAR_039833 Q8N3T6:p.Val232Met SP substitution exon 1 VAR_039834 Q8N3T6:p.Val272Ile SP substitution exon 1 VAR_039835 Q8N3T6:p.Val444Ile SP substitution exon 1 VAR_039836 Q8N3T6:p.Thr730Ser SP substitution exon 1 VAR_039837 Q8N3T6:p.Phe799Ile SP substitution exon 1 VAR_039838 Q8N3T6:p.Gly810Arg SP substitution exon 1 VAR_039839 Q3KQV9:p.Ala319Val SP substitution exon 1 VAR_039840 Q3KQV9:p.Pro373Ser SP substitution exon 1 VAR_039841 Q6N021:p.Pro29Arg SP substitution exon 1 VAR_039842 Q6N021:p.Val218Met SP substitution exon 1 VAR_039843 Q6N021:p.Pro363Leu SP substitution exon 1 VAR_039844 Q6N021:p.Ala912Gly SP substitution exon 1 VAR_039845 Q8ND23:p.Leu1022Met SP substitution exon 1 VAR_039846 Q8N9B5:p.Met364Leu SP substitution exon 1 VAR_039849 Q9UBB6:p.Val392Glu SP substitution exon 1 VAR_039850 Q9UBB6:p.Val392Leu SP substitution exon 1 VAR_039860 Q6V0I7:p.Asp2826Asn SP substitution exon 1 VAR_039861 Q6V0I7:p.Gly3524Asp SP substitution exon 1 VAR_039862 Q6V0I7:p.Lys3828Glu SP substitution exon 1 VAR_039863 Q6V0I7:p.Ser3873Asn SP substitution exon 1 VAR_039864 Q6V0I7:p.Glu4374Lys SP substitution exon 1 VAR_039865 Q6V0I7:p.Pro4972Ser SP substitution exon 1 VAR_039866 Q6V0I7:p.Ala4977Thr SP substitution exon 1 VAR_039867 Q8WU90:p.Val342Glu SP substitution exon 1 VAR_039871 Q30154:p.Leu28Ser SP substitution exon 1 VAR_039872 Q30154:p.Gly154Ala SP substitution exon 1 VAR_039873 Q9C0B2:p.Ser50Ile SP substitution exon 1 VAR_039874 Q9C0B2:p.Ile363Val SP substitution exon 1 VAR_039875 Q9C0B2:p.Gly628Cys SP substitution exon 1 VAR_039876 Q9NWL6:p.Gly190Arg SP substitution exon 1 VAR_039877 Q9NWL6:p.Met434Thr SP substitution exon 1 VAR_039878 A6NCF5:p.Arg163His SP substitution exon 1 VAR_039879 A6NCF5:p.Arg176Gln SP substitution exon 1 VAR_039880 A6NCF5:p.Glu345Gly SP substitution exon 1 VAR_039881 A6NCF5:p.Ala516Thr SP substitution exon 1 VAR_039882 Q9H875:p.Ser7Ala SP substitution exon 1 VAR_039883 Q9H875:p.Asp106Tyr SP substitution exon 1 VAR_039884 Q9Y6X5:p.His144Gln SP substitution exon 1 VAR_039885 Q9Y6X5:p.Ile255Val SP substitution exon 1 VAR_039886 Q9Y6X5:p.Ser439Ala SP substitution exon 1 VAR_039888 Q15465:p.Gly27Ala SP substitution exon 1 VAR_039889 Q15465:p.Ile111Asn SP substitution exon 1 VAR_039890 Q15465:p.His140Pro SP substitution exon 1 VAR_039891 Q15465:p.His140Gln SP substitution exon 1 VAR_039892 Q15465:p.Cys183Phe SP substitution exon 1 VAR_039893 Q15465:p.Thr267Ile SP substitution exon 1 VAR_039894 Q15465:p.Ala373Thr SP substitution exon 1 VAR_039899 A1A4Y4:p.Glu17Asp SP substitution exon 1 VAR_039900 A1A4Y4:p.Thr94Lys SP substitution exon 1 VAR_039901 Q96LM5:p.Ala46Val SP substitution exon 1 VAR_039902 Q96LM5:p.Ser75Gly SP substitution exon 1 VAR_039903 Q96LM5:p.Tyr84Cys SP substitution exon 1 VAR_039904 Q96LM5:p.Gly93Glu SP substitution exon 1 VAR_039905 Q96LM5:p.Arg134His SP substitution exon 1 VAR_039906 Q68DQ2:p.Arg433His SP substitution exon 1 VAR_039907 Q68DQ2:p.Tyr761Cys SP substitution exon 1 VAR_039908 Q68DQ2:p.Asn926His SP substitution exon 1 VAR_039909 Q5M9N0:p.Glu232Asp SP substitution exon 1 VAR_039910 Q5M9N0:p.Ile297Val SP substitution exon 1 VAR_039911 Q8WVX3:p.Arg17Gln SP substitution exon 1 VAR_039912 Q8WVX3:p.Pro32His SP substitution exon 1 VAR_039913 Q8N1W0:p.Asp363Gly SP substitution exon 1 VAR_039914 Q8N1W0:p.Pro419Ser SP substitution exon 1 VAR_039915 Q8N1W0:p.Val458Ala SP substitution exon 1 VAR_039916 Q8N812:p.Ala26Thr SP substitution exon 1 VAR_039917 A2RUB1:p.Met311Leu SP substitution exon 1 VAR_039918 A2RUB1:p.Asn320Thr SP substitution exon 1 VAR_039919 O95876:p.Gly268Ser SP substitution exon 1 VAR_039920 Q86V40:p.Arg143His SP substitution exon 1 VAR_039921 Q86V40:p.Arg428Gln SP substitution exon 1 VAR_039922 Q86V40:p.Pro430Leu SP substitution exon 1 VAR_039923 Q5VZK9:p.Val77Ile SP substitution exon 1 VAR_039924 Q5VZK9:p.Pro545Leu SP substitution exon 1 VAR_039925 Q5VZK9:p.Ala639Gly SP substitution exon 1 VAR_039926 Q5VZK9:p.Asn1117Ser SP substitution exon 1 VAR_039927 Q7Z614:p.Pro35Leu SP substitution exon 1 VAR_039928 Q6ZN32:p.Ser19Ala SP substitution exon 1 VAR_039929 Q6ZN32:p.Gly263Ala SP substitution exon 1 VAR_039930 Q6ZN32:p.Met318Val SP substitution exon 1 VAR_039931 Q3KRA6:p.Ile46Val SP substitution exon 1 VAR_039932 Q3KRA6:p.Lys116Arg SP substitution exon 1 VAR_039933 Q9P242:p.Thr205Ala SP substitution exon 1 VAR_039935 Q86V59:p.Ser80Thr SP substitution exon 1 VAR_039936 Q86V59:p.Cys97Tyr SP substitution exon 1 VAR_039937 Q8N807:p.Ala26Thr SP substitution exon 1 VAR_039938 Q8N807:p.Glu106Gln SP substitution exon 1 VAR_039939 Q8N807:p.Asp446Asn SP substitution exon 1 VAR_039940 Q8N807:p.Val447Ile SP substitution exon 1 VAR_039941 Q8N807:p.Leu475Arg SP substitution exon 1 VAR_039942 Q8N807:p.Arg527Lys SP substitution exon 1 VAR_039943 Q8N807:p.Gly529Glu SP substitution exon 1 VAR_039944 Q8NHS4:p.Ala178Val SP substitution exon 1 VAR_039945 Q8NHS4:p.Val426Ile SP substitution exon 1 VAR_039948 Q6PK18:p.Asp67Glu SP substitution exon 1 VAR_039949 Q6PK18:p.Pro272Arg SP substitution exon 1 VAR_039950 Q8TAK5:p.Val62Ile SP substitution exon 1 VAR_039951 Q8N2A8:p.Leu42Pro SP substitution exon 1 VAR_039952 Q8N2A8:p.Arg108His SP substitution exon 1 VAR_039953 A6PVY3:p.Ile3Ser SP substitution exon 1 VAR_039954 Q6P2P2:p.Ser483Gly SP substitution exon 1 VAR_039956 Q68D91:p.Thr128Ala SP substitution exon 1 VAR_039957 Q6ZVW7:p.Leu333Pro SP substitution exon 1 VAR_039958 Q9BTX3:p.Asp82Tyr SP substitution exon 1 VAR_039959 Q6ZQR2:p.Gly137Arg SP substitution exon 1 VAR_039960 Q6ZQR2:p.Arg172Trp SP substitution exon 1 VAR_039961 Q6ZQR2:p.Arg184His SP substitution exon 1 VAR_039962 Q6GMV1:p.Asn135Asp SP substitution exon 1 VAR_039963 Q6GMV1:p.Ile159Thr SP substitution exon 1 VAR_039964 Q6GMV1:p.Gly184Ser SP substitution exon 1 VAR_039969 Q5W0A0:p.Glu63Asp SP substitution exon 1 VAR_039970 Q5W0A0:p.Glu99Gly SP substitution exon 1 VAR_039971 Q5W0A0:p.Ser174Thr SP substitution exon 1 VAR_039972 Q5W0A0:p.Glu178Lys SP substitution exon 1 VAR_039973 Q5W0A0:p.Leu303Pro SP substitution exon 1 VAR_039974 Q5W0A0:p.Thr427Ile SP substitution exon 1 VAR_039979 Q9BW66:p.Arg164His SP substitution exon 1 VAR_039980 Q9BW66:p.Asp177Asn SP substitution exon 1 VAR_039981 Q08AI6:p.Ala194Thr SP substitution exon 1 VAR_039982 Q8NFR7:p.Gln75Arg SP substitution exon 1 VAR_039983 Q8NFR7:p.Met157Val SP substitution exon 1 VAR_039985 A4D1T9:p.Thr119Pro SP substitution exon 1 VAR_039986 Q7Z3B0:p.Leu23Phe SP substitution exon 1 VAR_039988 Q9NR55:p.Val11Ile SP substitution exon 1 VAR_039989 Q3ZCQ3:p.Ser116Leu SP substitution exon 1 VAR_039990 Q6NTE8:p.Gln97Arg SP substitution exon 1 VAR_039991 Q6NTE8:p.Arg154Gly SP substitution exon 1 VAR_039998 Q8IYT2:p.Leu60Phe SP substitution exon 1 VAR_039999 Q8IYT2:p.Phe163Tyr SP substitution exon 1 VAR_040000 Q8IYT2:p.Asn416Ser SP substitution exon 1 VAR_040001 Q8IYT2:p.Thr608Lys SP substitution exon 1 VAR_040002 Q8IYT2:p.Phe753Leu SP substitution exon 1 VAR_040004 Q6UX73:p.Leu296Ser SP substitution exon 1 VAR_040005 Q6UX73:p.Tyr363His SP substitution exon 1 VAR_040006 Q495N2:p.Lys167Glu SP substitution exon 1 VAR_040007 Q495N2:p.Pro185Ser SP substitution exon 1 VAR_040008 Q495N2:p.Arg190His SP substitution exon 1 VAR_040009 Q495N2:p.Glu415Asp SP substitution exon 1 VAR_040010 Q495N2:p.Ser421Phe SP substitution exon 1 VAR_040012 P06276:p.Thr52Met SP substitution exon 1 VAR_040013 P06276:p.Phe56Ile SP substitution exon 1 VAR_040014 P06276:p.Tyr61Cys SP substitution exon 1 VAR_040015 P06276:p.Pro65Ser SP substitution exon 1 VAR_040016 P06276:p.Asp98His SP substitution exon 1 VAR_040017 P06276:p.Asn124Tyr SP substitution exon 1 VAR_040018 P06276:p.Pro128Ser SP substitution exon 1 VAR_040019 P06276:p.Gly143Asp SP substitution exon 1 VAR_040020 P06276:p.Leu153Phe SP substitution exon 1 VAR_040021 P06276:p.Tyr156Cys SP substitution exon 1 VAR_040022 P06276:p.Val170Met SP substitution exon 1 VAR_040023 P06276:p.Asp198Glu SP substitution exon 1 VAR_040024 P06276:p.Ser226Gly SP substitution exon 1 VAR_040025 P06276:p.Ala227Val SP substitution exon 1 VAR_040026 P06276:p.Ala229Thr SP substitution exon 1 VAR_040027 P06276:p.Thr271Met SP substitution exon 1 VAR_040028 P06276:p.Thr278Pro SP substitution exon 1 VAR_040029 P06276:p.Glu283Asp SP substitution exon 1 VAR_040030 P06276:p.Lys295Arg SP substitution exon 1 VAR_040031 P06276:p.Leu335Pro SP substitution exon 1 VAR_040032 P06276:p.Ala356Asp SP substitution exon 1 VAR_040033 P06276:p.Gly393Arg SP substitution exon 1 VAR_040034 P06276:p.Arg414Cys SP substitution exon 1 VAR_040035 P06276:p.Gly418Val SP substitution exon 1 VAR_040036 P06276:p.Phe446Ser SP substitution exon 1 VAR_040037 P06276:p.Glu488Lys SP substitution exon 1 VAR_040038 P06276:p.Trp499Arg SP substitution exon 1 VAR_040039 P06276:p.Phe502Leu SP substitution exon 1 VAR_040040 P06276:p.Glu525Val SP substitution exon 1 VAR_040041 P06276:p.Arg543Cys SP substitution exon 1 VAR_040042 P06276:p.Gln546Leu SP substitution exon 1 VAR_040043 Q86UY8:p.Ala266Glu SP substitution exon 1 VAR_040044 Q7RTT9:p.Val79Glu SP substitution exon 1 VAR_040045 Q7RTT9:p.Asn124Lys SP substitution exon 1 VAR_040046 Q7RTT9:p.Pro429Thr SP substitution exon 1 VAR_040047 Q685J3:p.Lys227Gln SP substitution exon 1 VAR_040048 Q685J3:p.Gly272Glu SP substitution exon 1 VAR_040049 Q685J3:p.Arg942Ser SP substitution exon 1 VAR_040050 Q685J3:p.Thr982Met SP substitution exon 1 VAR_040051 Q685J3:p.Ile1130Thr SP substitution exon 1 VAR_040052 Q685J3:p.Ser1242Thr SP substitution exon 1 VAR_040053 Q685J3:p.Thr1246Asn SP substitution exon 1 VAR_040054 Q685J3:p.Thr1246Ser SP substitution exon 1 VAR_040055 Q685J3:p.Pro1249Ala SP substitution exon 1 VAR_040056 Q685J3:p.Leu1348Pro SP substitution exon 1 VAR_040057 Q685J3:p.Cys1375Arg SP substitution exon 1 VAR_040058 Q685J3:p.Asp4334Asn SP substitution exon 1 VAR_040059 Q685J3:p.Arg4482Gln SP substitution exon 1 VAR_040060 P68871:p.Val68Gly SP substitution exon 1 VAR_040061 O15516:p.Ser208Cys SP substitution exon 1 VAR_040062 O15516:p.Glu380Lys SP substitution exon 1 VAR_040063 Q96M69:p.Asp302Tyr SP substitution exon 1 VAR_040064 Q96M69:p.Ala661Val SP substitution exon 1 VAR_040065 A6NK97:p.Ala58Asp SP substitution exon 1 VAR_040066 A6NK97:p.Ala139Val SP substitution exon 1 VAR_040067 Q08188:p.Thr13Lys SP substitution exon 1 VAR_040068 Q08188:p.Ile163Leu SP substitution exon 1 VAR_040069 Q08188:p.Ser249Asn SP substitution exon 1 VAR_040070 Q08188:p.Lys562Arg SP substitution exon 1 VAR_040071 Q08188:p.Gly654Arg SP substitution exon 1 VAR_040072 Q96C11:p.Leu134Val SP substitution exon 1 VAR_040073 Q5JU00:p.Pro35Leu SP substitution exon 1 VAR_040074 Q5JU00:p.His53Arg SP substitution exon 1 VAR_040075 Q5JU00:p.Phe261Ser SP substitution exon 1 VAR_040076 Q6ZUT9:p.Arg52Lys SP substitution exon 1 VAR_040077 Q6ZUT9:p.His487Asn SP substitution exon 1 VAR_040348 Q2M2I8:p.Ile59Val SP substitution exon 1 VAR_040349 Q2M2I8:p.Gln533His SP substitution exon 1 VAR_040350 Q2M2I8:p.Val603Ala SP substitution exon 1 VAR_040351 Q2M2I8:p.Thr694Met SP substitution exon 1 VAR_040352 Q2M2I8:p.Pro725Thr SP substitution exon 1 VAR_040353 Q2M2I8:p.Pro771Arg SP substitution exon 1 VAR_040354 Q2M2I8:p.Gly835Asp SP substitution exon 1 VAR_040355 P54646:p.Arg407Gln SP substitution exon 1 VAR_040356 P31751:p.Ile188Val SP substitution exon 1 VAR_040357 P31751:p.Arg208Lys SP substitution exon 1 VAR_040358 Q9Y243:p.Gly171Arg SP substitution exon 1 VAR_040359 Q8NFD2:p.Asp4Tyr SP substitution exon 1 VAR_040360 Q8NFD2:p.Arg122His SP substitution exon 1 VAR_040361 Q8NFD2:p.Pro276Leu SP substitution exon 1 VAR_040362 Q8NFD2:p.Lys347Thr SP substitution exon 1 VAR_040363 Q8NFD2:p.Leu366Phe SP substitution exon 1 VAR_040364 Q8NFD2:p.His367Gln SP substitution exon 1 VAR_040365 Q8NFD2:p.Glu376Lys SP substitution exon 1 VAR_040366 Q8NFD2:p.Glu426Lys SP substitution exon 1 VAR_040367 Q8NFD2:p.Gly451Arg SP substitution exon 1 VAR_040368 Q8NFD2:p.Thr595Ile SP substitution exon 1 VAR_040369 Q8NFD2:p.Pro596Leu SP substitution exon 1 VAR_040370 Q8NFD2:p.Asn653Ser SP substitution exon 1 VAR_040371 Q8NFD2:p.Ser670Gly SP substitution exon 1 VAR_040372 Q8NFD2:p.Gln717Leu SP substitution exon 1 VAR_040373 Q8NFD2:p.Arg736Leu SP substitution exon 1 VAR_040374 Q8NFD2:p.Glu764Lys SP substitution exon 1 VAR_040375 P10398:p.Met98Thr SP substitution exon 1 VAR_040376 P10398:p.Gly331Cys SP substitution exon 1 VAR_040377 P10398:p.Glu578Asp SP substitution exon 1 VAR_040378 P25098:p.Ile184Thr SP substitution exon 1 VAR_040379 P25098:p.Arg578Gln SP substitution exon 1 VAR_040380 P35626:p.Arg50Ser SP substitution exon 1 VAR_040381 P35626:p.Asn60Ser SP substitution exon 1 VAR_040382 P35626:p.Arg104Lys SP substitution exon 1 VAR_040383 Q96GD4:p.Ala52Val SP substitution exon 1 VAR_040384 Q96GD4:p.Thr179Met SP substitution exon 1 VAR_040385 Q9UQB9:p.Gly52Glu SP substitution exon 1 VAR_040386 Q9UQB9:p.Glu148Gln SP substitution exon 1 VAR_040387 Q9UQB9:p.His244Gln SP substitution exon 1 VAR_040388 Q9NSY1:p.Val68Met SP substitution exon 1 VAR_040389 Q9NSY1:p.Asp212Val SP substitution exon 1 VAR_040390 Q9NSY1:p.Arg288His SP substitution exon 1 VAR_040391 P15056:p.Pro301Ser SP substitution exon 1 VAR_040392 P15056:p.Gly469Val SP substitution exon 1 VAR_040393 P15056:p.Asn581Ser SP substitution exon 1 VAR_040394 Q8TDC3:p.Arg303Trp SP substitution exon 1 VAR_040395 Q8TDC3:p.Val319Ile SP substitution exon 1 VAR_040396 Q8TDC3:p.Gly391Glu SP substitution exon 1 VAR_040400 O43683:p.Gly20Asp SP substitution exon 1 VAR_040401 O43683:p.Asn534Asp SP substitution exon 1 VAR_040402 O60566:p.Thr40Met SP substitution exon 1 VAR_040403 O00311:p.Ile208Met SP substitution exon 1 VAR_040404 O00311:p.Glu209Asp SP substitution exon 1 VAR_040405 O00311:p.Thr472Ile SP substitution exon 1 VAR_040406 O00311:p.Ser498Ala SP substitution exon 1 VAR_040407 O14757:p.Glu223Val SP substitution exon 1 VAR_040408 O14757:p.Val312Met SP substitution exon 1 VAR_040409 P49759:p.Ser61Phe SP substitution exon 1 VAR_040410 P49759:p.Arg118Gly SP substitution exon 1 VAR_040413 P49761:p.Arg486Cys SP substitution exon 1 VAR_040416 P19784:p.Glu188Ala SP substitution exon 1 VAR_040417 O14578:p.Gly7Glu SP substitution exon 1 VAR_040418 O14578:p.Arg9Gln SP substitution exon 1 VAR_040419 O14578:p.Leu183Phe SP substitution exon 1 VAR_040420 P53355:p.Ala461Ser SP substitution exon 1 VAR_040421 P53355:p.Ser519Ala SP substitution exon 1 VAR_040422 P53355:p.Cys540Tyr SP substitution exon 1 VAR_040423 P53355:p.Met941Thr SP substitution exon 1 VAR_040424 P53355:p.Arg977Trp SP substitution exon 1 VAR_040425 P53355:p.Lys978Asn SP substitution exon 1 VAR_040426 P53355:p.Tyr993Cys SP substitution exon 1 VAR_040427 P53355:p.Asp994Glu SP substitution exon 1 VAR_040428 P53355:p.Glu1005Gln SP substitution exon 1 VAR_040429 P53355:p.Asp1007Tyr SP substitution exon 1 VAR_040430 P53355:p.Leu1008Pro SP substitution exon 1 VAR_040431 P53355:p.Arg1010Cys SP substitution exon 1 VAR_040432 P53355:p.Thr1018Ala SP substitution exon 1 VAR_040436 Q9UIK4:p.Arg60Trp SP substitution exon 1 VAR_040438 O43293:p.Thr112Met SP substitution exon 1 VAR_040439 O43293:p.Asp161Asn SP substitution exon 1 VAR_040440 O43293:p.Pro216Ser SP substitution exon 1 VAR_040441 Q8N568:p.Gly119Cys SP substitution exon 1 VAR_040442 Q8N568:p.Arg372His SP substitution exon 1 VAR_040443 Q8N568:p.Ile583Val SP substitution exon 1 VAR_040444 Q9C098:p.Arg24Gln SP substitution exon 1 VAR_040445 Q9C098:p.Pro108Leu SP substitution exon 1 VAR_040446 Q9C098:p.Glu422Lys SP substitution exon 1 VAR_040447 Q9C098:p.Ser472Asn SP substitution exon 1 VAR_040448 Q9C098:p.Arg554Cys SP substitution exon 1 VAR_040449 Q9C098:p.Gly570Arg SP substitution exon 1 VAR_040450 Q9C098:p.Val596Ala SP substitution exon 1 VAR_040451 Q9C098:p.Glu633Asp SP substitution exon 1 VAR_040452 Q09013:p.Leu428Val SP substitution exon 1 VAR_040454 Q9Y463:p.Leu28Pro SP substitution exon 1 VAR_040455 Q9Y463:p.Arg102His SP substitution exon 1 VAR_040456 Q9Y463:p.Ser234Gly SP substitution exon 1 VAR_040457 Q9Y463:p.Gln275Arg SP substitution exon 1 VAR_040458 Q92630:p.Ser98Gly SP substitution exon 1 VAR_040459 Q92630:p.Pro198Leu SP substitution exon 1 VAR_040460 Q92630:p.His245Asn SP substitution exon 1 VAR_040461 Q92630:p.Asn295Ser SP substitution exon 1 VAR_040462 Q92630:p.Arg451Gln SP substitution exon 1 VAR_040463 Q92630:p.Phe455Tyr SP substitution exon 1 VAR_040464 O43781:p.Met239Leu SP substitution exon 1 VAR_040465 Q9NR20:p.Ala70Ser SP substitution exon 1 VAR_040466 Q9BQI3:p.Arg117Thr SP substitution exon 1 VAR_040467 Q9BQI3:p.Lys132Thr SP substitution exon 1 VAR_040468 Q9BQI3:p.Arg134Lys SP substitution exon 1 VAR_040469 Q9BQI3:p.Pro139Ser SP substitution exon 1 VAR_040470 Q9BQI3:p.Arg145His SP substitution exon 1 VAR_040471 Q9BQI3:p.Gly202Ser SP substitution exon 1 VAR_040472 Q9BQI3:p.Phe292Leu SP substitution exon 1 VAR_040473 Q9BQI3:p.Leu319His SP substitution exon 1 VAR_040474 P19525:p.Val428Glu SP substitution exon 1 VAR_040475 P19525:p.Leu439Val SP substitution exon 1 VAR_040476 P19525:p.Ile506Val SP substitution exon 1 VAR_040477 Q9NZJ5:p.Asp566Val SP substitution exon 1 VAR_040478 Q9NZJ5:p.Pro716Leu SP substitution exon 1 VAR_040479 Q9P2K8:p.His137Arg SP substitution exon 1 VAR_040480 Q9P2K8:p.Arg166Trp SP substitution exon 1 VAR_040481 Q9P2K8:p.Ile441Leu SP substitution exon 1 VAR_040482 Q9P2K8:p.Asp872Val SP substitution exon 1 VAR_040483 Q9P2K8:p.His939Tyr SP substitution exon 1 VAR_040484 Q9P2K8:p.Thr1060Arg SP substitution exon 1 VAR_040485 Q9P2K8:p.Gly1306Cys SP substitution exon 1 VAR_040486 Q9P2K8:p.Lys1336Arg SP substitution exon 1 VAR_040487 Q9P2K8:p.Gln1406His SP substitution exon 1 VAR_040488 O75460:p.Asn244Ser SP substitution exon 1 VAR_040489 O75460:p.Val418Met SP substitution exon 1 VAR_040490 O75460:p.Leu474Arg SP substitution exon 1 VAR_040491 O75460:p.Arg635Trp SP substitution exon 1 VAR_040492 O75460:p.Asn700Ser SP substitution exon 1 VAR_040493 O75460:p.Ser769Phe SP substitution exon 1 VAR_040494 O75460:p.Pro830Leu SP substitution exon 1 VAR_040495 Q76MJ5:p.Val69Ile SP substitution exon 1 VAR_040496 Q76MJ5:p.Arg118Cys SP substitution exon 1 VAR_040497 Q76MJ5:p.Arg184Cys SP substitution exon 1 VAR_040498 Q76MJ5:p.Arg271Gln SP substitution exon 1 VAR_040499 Q76MJ5:p.Ala318Thr SP substitution exon 1 VAR_040500 Q76MJ5:p.Leu410Phe SP substitution exon 1 VAR_040501 Q76MJ5:p.Ser487Thr SP substitution exon 1 VAR_040502 Q76MJ5:p.Leu504Phe SP substitution exon 1 VAR_040503 Q76MJ5:p.Arg537Gln SP substitution exon 1 VAR_040504 Q76MJ5:p.His858Tyr SP substitution exon 1 VAR_040505 O14976:p.Ser144Leu SP substitution exon 1 VAR_040506 O14976:p.Val580Met SP substitution exon 1 VAR_040507 O14976:p.Asp787Tyr SP substitution exon 1 VAR_040516 P32298:p.Leu425Pro SP substitution exon 1 VAR_040517 P34947:p.Gln41Leu SP substitution exon 1 VAR_040518 P34947:p.Ala119Val SP substitution exon 1 VAR_040519 P34947:p.Gly122Ser SP substitution exon 1 VAR_040520 P34947:p.Thr129Met SP substitution exon 1 VAR_040521 P34947:p.Leu141Ile SP substitution exon 1 VAR_040522 P34947:p.Asp163Glu SP substitution exon 1 VAR_040523 P34947:p.Arg304His SP substitution exon 1 VAR_040524 P43250:p.Arg31Gln SP substitution exon 1 VAR_040525 P43250:p.Thr73Met SP substitution exon 1 VAR_040526 P43250:p.Ile275Met SP substitution exon 1 VAR_040527 Q8WTQ7:p.Arg81His SP substitution exon 1 VAR_040528 Q8WTQ7:p.Cys113Trp SP substitution exon 1 VAR_040529 Q8WTQ7:p.Ser115Cys SP substitution exon 1 VAR_040530 Q8WTQ7:p.Ser127Thr SP substitution exon 1 VAR_040531 Q8WTQ7:p.Val196Gly SP substitution exon 1 VAR_040532 Q8WTQ7:p.Val196Met SP substitution exon 1 VAR_040533 Q8WTQ7:p.Arg226Trp SP substitution exon 1 VAR_040534 Q8WTQ7:p.Ser253Phe SP substitution exon 1 VAR_040535 Q8WTQ7:p.Glu309Gln SP substitution exon 1 VAR_040536 Q8WTQ7:p.Val313Ile SP substitution exon 1 VAR_040537 Q8WTQ7:p.Glu443Gly SP substitution exon 1 VAR_040538 Q8WTQ7:p.Pro460Thr SP substitution exon 1 VAR_040539 P49840:p.Leu461Phe SP substitution exon 1 VAR_040540 Q8TF76:p.Val76Glu SP substitution exon 1 VAR_040541 Q8TF76:p.Arg82Cys SP substitution exon 1 VAR_040542 Q8TF76:p.Arg145His SP substitution exon 1 VAR_040543 Q8TF76:p.Gly283Ser SP substitution exon 1 VAR_040544 Q8TF76:p.Gln301Leu SP substitution exon 1 VAR_040545 Q8TF76:p.Met706Val SP substitution exon 1 VAR_040546 Q86Z02:p.Gly310Cys SP substitution exon 1 VAR_040547 Q9H2X6:p.Arg792Gln SP substitution exon 1 VAR_040548 Q9H2X6:p.Arg1027Gln SP substitution exon 1 VAR_040549 Q9H422:p.Gln142Arg SP substitution exon 1 VAR_040550 Q9H422:p.Gly170Glu SP substitution exon 1 VAR_040551 Q9H422:p.Cys191Arg SP substitution exon 1 VAR_040552 Q9H422:p.Ser500Asn SP substitution exon 1 VAR_040553 Q9H422:p.Pro729Leu SP substitution exon 1 VAR_040554 Q8NE63:p.Ala106Thr SP substitution exon 1 VAR_040555 Q8NE63:p.Val171Met SP substitution exon 1 VAR_040556 Q8NE63:p.Thr381Met SP substitution exon 1 VAR_040557 Q8NE63:p.Ala386Thr SP substitution exon 1 VAR_040558 Q8NE63:p.Ser406Arg SP substitution exon 1 VAR_040559 Q8NE63:p.Gly421Ser SP substitution exon 1 VAR_040560 Q8NE63:p.Arg481Cys SP substitution exon 1 VAR_040561 P57058:p.Arg157Trp SP substitution exon 1 VAR_040562 P57058:p.Arg591Cys SP substitution exon 1 VAR_040563 P57058:p.Glu625Lys SP substitution exon 1 VAR_040564 P57058:p.Met648Thr SP substitution exon 1 VAR_040565 O15111:p.Ser126Cys SP substitution exon 1 VAR_040566 O15111:p.Val155Ala SP substitution exon 1 VAR_040567 O14920:p.Gln369Arg SP substitution exon 1 VAR_040568 O14920:p.Arg526Gln SP substitution exon 1 VAR_040569 O14920:p.Ala710Thr SP substitution exon 1 VAR_040570 O14920:p.Phe734Leu SP substitution exon 1 VAR_040571 Q14164:p.Thr483Met SP substitution exon 1 VAR_040573 P51617:p.Thr398Met SP substitution exon 1 VAR_040574 P51617:p.Val412Met SP substitution exon 1 VAR_040575 P51617:p.Gln421His SP substitution exon 1 VAR_040576 P51617:p.Ser532Leu SP substitution exon 1 VAR_040577 P51617:p.Gly619Ser SP substitution exon 1 VAR_040578 P51617:p.Thr625Met SP substitution exon 1 VAR_040579 P51617:p.Arg638Trp SP substitution exon 1 VAR_040580 P51617:p.Ser690Gly SP substitution exon 1 VAR_040581 Q9Y616:p.His57Arg SP substitution exon 1 VAR_040582 Q9Y616:p.Gly84Ser SP substitution exon 1 VAR_040583 Q9Y616:p.Ile171Val SP substitution exon 1 VAR_040584 Q9Y616:p.Ser288Leu SP substitution exon 1 VAR_040585 Q9Y616:p.Arg384Gln SP substitution exon 1 VAR_040586 Q9Y616:p.Met391Thr SP substitution exon 1 VAR_040587 Q9Y616:p.Asp482Asn SP substitution exon 1 VAR_040588 Q9NWZ3:p.Ile5Val SP substitution exon 1 VAR_040591 P17612:p.Leu41Val SP substitution exon 1 VAR_040592 P17612:p.Arg46Gln SP substitution exon 1 VAR_040593 P17612:p.Ser264Cys SP substitution exon 1 VAR_040594 P22694:p.Arg106Gln SP substitution exon 1 VAR_040595 P22612:p.Ile251Asn SP substitution exon 1 VAR_040596 Q14012:p.Pro217Ser SP substitution exon 1 VAR_040597 Q14012:p.Glu361Lys SP substitution exon 1 VAR_040599 Q8IU85:p.Ile66Met SP substitution exon 1 VAR_040600 Q96NX5:p.Glu259Gln SP substitution exon 1 VAR_040601 Q96NX5:p.Ala443Thr SP substitution exon 1 VAR_040602 Q13557:p.Asp167Glu SP substitution exon 1 VAR_040604 Q16566:p.Glu150Gly SP substitution exon 1 VAR_040605 Q16566:p.Asp178Asn SP substitution exon 1 VAR_040608 Q13237:p.His106Arg SP substitution exon 1 VAR_040609 Q13237:p.Trp716Arg SP substitution exon 1 VAR_040610 Q96RR4:p.Cys123Tyr SP substitution exon 1 VAR_040611 Q96RR4:p.Pro127Leu SP substitution exon 1 VAR_040612 Q96RR4:p.Ala182Thr SP substitution exon 1 VAR_040613 Q96RR4:p.Arg492His SP substitution exon 1 VAR_040614 P11801:p.Asn301Ser SP substitution exon 1 VAR_040615 Q96QS6:p.Gly72Asp SP substitution exon 1 VAR_040616 Q96QS6:p.Arg79Lys SP substitution exon 1 VAR_040617 Q96QS6:p.Arg114Gln SP substitution exon 1 VAR_040618 Q96QS6:p.Ser116Ile SP substitution exon 1 VAR_040619 Q96QS6:p.Gln132Arg SP substitution exon 1 VAR_040620 Q96QS6:p.Arg148Gln SP substitution exon 1 VAR_040621 Q96QS6:p.Ala176Ser SP substitution exon 1 VAR_040622 Q96QS6:p.Gly211Arg SP substitution exon 1 VAR_040623 Q96QS6:p.Lys212Ile SP substitution exon 1 VAR_040624 Q96QS6:p.Thr225Ala SP substitution exon 1 VAR_040625 Q96QS6:p.Ser266Arg SP substitution exon 1 VAR_040626 Q96QS6:p.Ile336Val SP substitution exon 1 VAR_040627 Q15349:p.Glu311Lys SP substitution exon 1 VAR_040629 P51812:p.Tyr483Cys SP substitution exon 1 VAR_040630 P51812:p.Leu608Phe SP substitution exon 1 VAR_040632 O75676:p.Ser236Leu SP substitution exon 1 VAR_040634 O75582:p.Asp554Asn SP substitution exon 1 VAR_040635 O75582:p.Pro574Leu SP substitution exon 1 VAR_040636 O75582:p.Tyr599Cys SP substitution exon 1 VAR_040637 Q9UK32:p.Tyr140Cys SP substitution exon 1 VAR_040638 Q9UK32:p.Ser258Thr SP substitution exon 1 VAR_040639 P23443:p.Met225Ile SP substitution exon 1 VAR_040640 P23443:p.Arg272Cys SP substitution exon 1 VAR_040641 P23443:p.Trp276Cys SP substitution exon 1 VAR_040642 P23443:p.Ser398Ala SP substitution exon 1 VAR_040643 Q9UBS0:p.Pro267Leu SP substitution exon 1 VAR_040644 Q9UBS0:p.Val368Met SP substitution exon 1 VAR_040645 Q9UBS0:p.Ala420Val SP substitution exon 1 VAR_040646 Q9UBS0:p.Thr443Met SP substitution exon 1 VAR_040647 Q96S38:p.Pro42Thr SP substitution exon 1 VAR_040648 Q96S38:p.Glu96Lys SP substitution exon 1 VAR_040649 Q96S38:p.Pro319Leu SP substitution exon 1 VAR_040650 Q96S38:p.Pro424Leu SP substitution exon 1 VAR_040651 Q96S38:p.Ala546Pro SP substitution exon 1 VAR_040652 Q96S38:p.Leu554Ile SP substitution exon 1 VAR_040653 Q96S38:p.Asn575Ser SP substitution exon 1 VAR_040654 Q96S38:p.Gly663Ala SP substitution exon 1 VAR_040655 Q96S38:p.Leu853Phe SP substitution exon 1 VAR_040659 Q6VAB6:p.Arg676Ser SP substitution exon 1 VAR_040660 O95835:p.Arg96Trp SP substitution exon 1 VAR_040661 O95835:p.Ser204Gly SP substitution exon 1 VAR_040662 O95835:p.Pro237Gln SP substitution exon 1 VAR_040663 O95835:p.Arg370Trp SP substitution exon 1 VAR_040664 O95835:p.Pro531Ser SP substitution exon 1 VAR_040665 O95835:p.Phe641Leu SP substitution exon 1 VAR_040666 O95835:p.Met669Ile SP substitution exon 1 VAR_040667 O95835:p.Arg806Pro SP substitution exon 1 VAR_040669 Q9NRM7:p.Gly40Glu SP substitution exon 1 VAR_040670 Q9NRM7:p.Ser91Leu SP substitution exon 1 VAR_040671 Q9NRM7:p.Ile799Val SP substitution exon 1 VAR_040672 Q9NRM7:p.Ala1014Gly SP substitution exon 1 VAR_040673 Q9NRM7:p.Leu1025Pro SP substitution exon 1 VAR_040674 Q38SD2:p.Ala1803Thr SP substitution exon 1 VAR_040675 Q38SD2:p.Leu1824Phe SP substitution exon 1 VAR_040676 Q38SD2:p.Ser1847Asn SP substitution exon 1 VAR_040677 Q38SD2:p.Asp1927Gly SP substitution exon 1 VAR_040680 Q13233:p.Ser92Asn SP substitution exon 1 VAR_040681 Q13233:p.Cys443Ser SP substitution exon 1 VAR_040682 Q9Y2U5:p.Ile110Val SP substitution exon 1 VAR_040683 Q9Y2U5:p.Met112Ile SP substitution exon 1 VAR_040684 Q9Y2U5:p.Asp140Gly SP substitution exon 1 VAR_040685 Q99759:p.Val281Met SP substitution exon 1 VAR_040686 Q9Y6R4:p.Ile294Thr SP substitution exon 1 VAR_040687 Q9Y6R4:p.Val335Ile SP substitution exon 1 VAR_040688 Q9Y6R4:p.Arg566His SP substitution exon 1 VAR_040689 Q9Y6R4:p.Gln584His SP substitution exon 1 VAR_040690 Q9Y6R4:p.His906Pro SP substitution exon 1 VAR_040693 Q99683:p.Gly1006Arg SP substitution exon 1 VAR_040694 Q99683:p.Ile1214Thr SP substitution exon 1 VAR_040695 Q99683:p.Ile1250Val SP substitution exon 1 VAR_040696 Q99683:p.Thr1314Ile SP substitution exon 1 VAR_040697 Q99683:p.Asp1315Asn SP substitution exon 1 VAR_040698 P80192:p.Ala246Val SP substitution exon 1 VAR_040699 P80192:p.Arg467Cys SP substitution exon 1 VAR_040700 P80192:p.Arg497Gln SP substitution exon 1 VAR_040701 P80192:p.Tyr646Cys SP substitution exon 1 VAR_040702 Q02779:p.Gly107Glu SP substitution exon 1 VAR_040703 Q16584:p.Asp151Val SP substitution exon 1 VAR_040704 Q16584:p.Ala282Gly SP substitution exon 1 VAR_040705 Q12852:p.Glu409Lys SP substitution exon 1 VAR_040706 Q12852:p.Gly628Arg SP substitution exon 1 VAR_040707 Q12852:p.Gly640Ser SP substitution exon 1 VAR_040708 O43283:p.Arg517Gly SP substitution exon 1 VAR_040711 Q99558:p.Ser140Asn SP substitution exon 1 VAR_040712 Q99558:p.Gly514Lys SP substitution exon 1 VAR_040716 Q6ZN16:p.Ala192Thr SP substitution exon 1 VAR_040717 Q6ZN16:p.Ser199Asn SP substitution exon 1 VAR_040718 Q6ZN16:p.Asp226His SP substitution exon 1 VAR_040719 Q6ZN16:p.Arg255Ser SP substitution exon 1 VAR_040720 Q6ZN16:p.Ser456Gly SP substitution exon 1 VAR_040721 Q6ZN16:p.Arg494Cys SP substitution exon 1 VAR_040722 Q6ZN16:p.Ser562Leu SP substitution exon 1 VAR_040723 Q6ZN16:p.Arg677Gln SP substitution exon 1 VAR_040729 Q5TCX8:p.Asp420Asn SP substitution exon 1 VAR_040730 Q5TCX8:p.Glu563Asp SP substitution exon 1 VAR_040731 Q5TCX8:p.Ser597Phe SP substitution exon 1 VAR_040732 Q5TCX8:p.Val728Ile SP substitution exon 1 VAR_040733 Q5TCX8:p.Glu741Asp SP substitution exon 1 VAR_040734 Q5TCX8:p.Cys784Gly SP substitution exon 1 VAR_040735 Q5TCX8:p.Arg892Trp SP substitution exon 1 VAR_040736 Q5TCX8:p.Thr900Ile SP substitution exon 1 VAR_040737 Q5TCX8:p.Arg977Cys SP substitution exon 1 VAR_040738 Q5TCX8:p.Pro982Leu SP substitution exon 1 VAR_040739 Q92918:p.Pro312Thr SP substitution exon 1 VAR_040740 Q92918:p.Pro351Ser SP substitution exon 1 VAR_040741 Q92918:p.Pro361Leu SP substitution exon 1 VAR_040742 Q92918:p.Ser737Phe SP substitution exon 1 VAR_040743 Q8IVH8:p.Val200Leu SP substitution exon 1 VAR_040744 Q8IVH8:p.His424Gln SP substitution exon 1 VAR_040746 O95819:p.Ser712Thr SP substitution exon 1 VAR_040747 Q9Y4K4:p.Ala334Thr SP substitution exon 1 VAR_040748 Q9Y4K4:p.Pro407Leu SP substitution exon 1 VAR_040749 Q9Y4K4:p.Ile446Val SP substitution exon 1 VAR_040750 Q9Y4K4:p.Asn473Lys SP substitution exon 1 VAR_040751 Q9Y4K4:p.Arg552Gln SP substitution exon 1 VAR_040752 Q9Y4K4:p.Thr633Met SP substitution exon 1 VAR_040753 P49137:p.Ala173Gly SP substitution exon 1 VAR_040754 P49137:p.Ala361Ser SP substitution exon 1 VAR_040755 Q16644:p.Pro28Ser SP substitution exon 1 VAR_040756 Q16644:p.Glu105Ala SP substitution exon 1 VAR_040757 Q16644:p.Asp276Tyr SP substitution exon 1 VAR_040758 Q8IW41:p.Met67Ile SP substitution exon 1 VAR_040759 Q8IW41:p.Arg282Lys SP substitution exon 1 VAR_040760 Q9P0L2:p.Tyr233Cys SP substitution exon 1 VAR_040761 Q9P0L2:p.Asn355Thr SP substitution exon 1 VAR_040762 Q9P0L2:p.Val530Met SP substitution exon 1 VAR_040763 Q9P0L2:p.Pro578Leu SP substitution exon 1 VAR_040764 Q9P0L2:p.Glu691Gly SP substitution exon 1 VAR_040765 P27448:p.Val429Ala SP substitution exon 1 VAR_040766 Q96L34:p.Arg377Gln SP substitution exon 1 VAR_040767 Q96L34:p.Arg418Cys SP substitution exon 1 VAR_040768 Q9Y2H9:p.Ala269Thr SP substitution exon 1 VAR_040769 Q9Y2H9:p.His1240Tyr SP substitution exon 1 VAR_040770 Q9Y2H9:p.Pro1292Ser SP substitution exon 1 VAR_040771 Q6P0Q8:p.Leu69Phe SP substitution exon 1 VAR_040772 Q6P0Q8:p.Lys275Glu SP substitution exon 1 VAR_040773 Q6P0Q8:p.Asp388Glu SP substitution exon 1 VAR_040774 Q6P0Q8:p.Gly655Ala SP substitution exon 1 VAR_040775 Q6P0Q8:p.Ile659Met SP substitution exon 1 VAR_040776 Q6P0Q8:p.Arg991Leu SP substitution exon 1 VAR_040777 Q6P0Q8:p.Lys1197Arg SP substitution exon 1 VAR_040778 Q6P0Q8:p.Asp1221Glu SP substitution exon 1 VAR_040779 Q6P0Q8:p.Arg1246Leu SP substitution exon 1 VAR_040780 Q6P0Q8:p.Val1304Met SP substitution exon 1 VAR_040781 Q6P0Q8:p.Ala1463Thr SP substitution exon 1 VAR_040782 Q6P0Q8:p.Gly1468Ala SP substitution exon 1 VAR_040783 Q6P0Q8:p.Asp1551Gly SP substitution exon 1 VAR_040784 Q6P0Q8:p.Lys1673Arg SP substitution exon 1 VAR_040785 Q6P0Q8:p.Gly1703Glu SP substitution exon 1 VAR_040786 O60307:p.Gly883Ser SP substitution exon 1 VAR_040792 Q96GX5:p.Thr337Lys SP substitution exon 1 VAR_040793 Q96GX5:p.Val610Ile SP substitution exon 1 VAR_040794 Q14680:p.Thr56Met SP substitution exon 1 VAR_040795 Q14680:p.Lys219Arg SP substitution exon 1 VAR_040796 Q14680:p.Arg333Lys SP substitution exon 1 VAR_040797 Q14680:p.Thr348Ile SP substitution exon 1 VAR_040799 Q8N4C8:p.Ala514Thr SP substitution exon 1 VAR_040800 Q8N4C8:p.Ile1200Val SP substitution exon 1 VAR_040801 Q9BUB5:p.Lys49Gln SP substitution exon 1 VAR_040802 Q9BUB5:p.Leu158Val SP substitution exon 1 VAR_040803 Q9BUB5:p.Asp308Asn SP substitution exon 1 VAR_040804 Q9BUB5:p.Arg446Gln SP substitution exon 1 VAR_040805 Q9HBH9:p.Asp73Asn SP substitution exon 1 VAR_040806 Q9NYL2:p.Thr267Met SP substitution exon 1 VAR_040807 Q9NYL2:p.Ala281Thr SP substitution exon 1 VAR_040808 Q9NYL2:p.Ala281Val SP substitution exon 1 VAR_040809 Q9NYL2:p.Arg580Trp SP substitution exon 1 VAR_040810 Q9NYL2:p.Pro740Thr SP substitution exon 1 VAR_040811 Q9NYL2:p.Tyr773His SP substitution exon 1 VAR_040812 Q9NYL2:p.Lys784Thr SP substitution exon 1 VAR_040813 P00540:p.Arg96Leu SP substitution exon 1 VAR_040814 P00540:p.Ala105Ser SP substitution exon 1 VAR_040815 P00540:p.Ala123Thr SP substitution exon 1 VAR_040816 P00540:p.Ser300Pro SP substitution exon 1 VAR_040817 P46734:p.Arg26Thr SP substitution exon 1 VAR_040818 P45985:p.Gln142Leu SP substitution exon 1 VAR_040819 P45985:p.Arg154Trp SP substitution exon 1 VAR_040820 P45985:p.Asn234Ile SP substitution exon 1 VAR_040821 P45985:p.Ser251Asn SP substitution exon 1 VAR_040822 P45985:p.Ala279Thr SP substitution exon 1 VAR_040823 Q13163:p.His118Arg SP substitution exon 1 VAR_040824 Q13163:p.Ala427Val SP substitution exon 1 VAR_040825 O14733:p.Asn118Ser SP substitution exon 1 VAR_040826 O14733:p.Arg138Cys SP substitution exon 1 VAR_040827 O14733:p.Arg162Cys SP substitution exon 1 VAR_040828 O14733:p.Arg162His SP substitution exon 1 VAR_040829 O14733:p.Ala195Thr SP substitution exon 1 VAR_040834 Q9Y5S2:p.Lys500Glu SP substitution exon 1 VAR_040835 Q9Y5S2:p.Arg555Gln SP substitution exon 1 VAR_040836 Q9Y5S2:p.Arg671Gln SP substitution exon 1 VAR_040837 Q9Y5S2:p.Arg876Trp SP substitution exon 1 VAR_040838 Q9Y5S2:p.Glu1315Lys SP substitution exon 1 VAR_040839 Q9Y5S2:p.Ser1633Tyr SP substitution exon 1 VAR_040840 Q6DT37:p.Pro168Leu SP substitution exon 1 VAR_040841 Q6DT37:p.Ser280Phe SP substitution exon 1 VAR_040842 Q6DT37:p.Thr362Pro SP substitution exon 1 VAR_040843 Q6DT37:p.Ala537Asp SP substitution exon 1 VAR_040844 Q9P289:p.Gln9Arg SP substitution exon 1 VAR_040845 Q9P289:p.Gly36Trp SP substitution exon 1 VAR_040846 Q9P289:p.Arg45Cys SP substitution exon 1 VAR_040847 Q15746:p.Val261Ala SP substitution exon 1 VAR_040848 Q15746:p.Thr276Ala SP substitution exon 1 VAR_040849 Q15746:p.Arg378His SP substitution exon 1 VAR_040850 Q15746:p.Met405Val SP substitution exon 1 VAR_040851 Q15746:p.Pro443Ser SP substitution exon 1 VAR_040852 Q15746:p.Arg607Gly SP substitution exon 1 VAR_040853 Q15746:p.Pro652Ala SP substitution exon 1 VAR_040854 Q15746:p.Trp656Cys SP substitution exon 1 VAR_040855 Q15746:p.Thr692Met SP substitution exon 1 VAR_040856 Q15746:p.Ala701Thr SP substitution exon 1 VAR_040857 Q15746:p.Val709Met SP substitution exon 1 VAR_040858 Q15746:p.Ala1527Val SP substitution exon 1 VAR_040859 Q15746:p.Pro1588Leu SP substitution exon 1 VAR_040860 Q9H1R3:p.Ala117Val SP substitution exon 1 VAR_040861 Q9H1R3:p.Gly142Val SP substitution exon 1 VAR_040862 Q9H1R3:p.Pro144Ala SP substitution exon 1 VAR_040863 Q9H1R3:p.Lys324Asn SP substitution exon 1 VAR_040864 Q86YV6:p.Glu30Gln SP substitution exon 1 VAR_040865 Q86YV6:p.Gly50Arg SP substitution exon 1 VAR_040866 Q86YV6:p.Ala78Ser SP substitution exon 1 VAR_040867 Q86YV6:p.Thr126Met SP substitution exon 1 VAR_040868 Q86YV6:p.His217Leu SP substitution exon 1 VAR_040869 Q86YV6:p.Cys318Tyr SP substitution exon 1 VAR_040870 Q86YV6:p.Gln373Arg SP substitution exon 1 VAR_040871 Q8NEV4:p.Thr178Ile SP substitution exon 1 VAR_040872 Q8NEV4:p.Arg319His SP substitution exon 1 VAR_040873 Q8NEV4:p.Ile348Val SP substitution exon 1 VAR_040874 Q8NEV4:p.Val369Ile SP substitution exon 1 VAR_040875 Q8NEV4:p.Asn525Lys SP substitution exon 1 VAR_040876 Q8NEV4:p.Ala833Ser SP substitution exon 1 VAR_040877 Q8NEV4:p.Ser956Arg SP substitution exon 1 VAR_040878 Q8NEV4:p.Ala1032Thr SP substitution exon 1 VAR_040879 Q8NEV4:p.Val1045Met SP substitution exon 1 VAR_040886 Q8WXR4:p.Pro21Ser SP substitution exon 1 VAR_040887 Q8WXR4:p.Arg185His SP substitution exon 1 VAR_040888 Q8WXR4:p.Asn267Ser SP substitution exon 1 VAR_040889 Q8WXR4:p.His316Leu SP substitution exon 1 VAR_040890 Q8WXR4:p.Glu352Gln SP substitution exon 1 VAR_040891 Q8WXR4:p.Asn388Ser SP substitution exon 1 VAR_040892 Q8WXR4:p.Gln638Pro SP substitution exon 1 VAR_040893 Q8WXR4:p.Glu773Gly SP substitution exon 1 VAR_040894 Q8WXR4:p.Arg918Gln SP substitution exon 1 VAR_040895 Q8WXR4:p.Ser969Cys SP substitution exon 1 VAR_040896 Q8WXR4:p.Arg990Cys SP substitution exon 1 VAR_040897 Q8WXR4:p.Ile1092Val SP substitution exon 1 VAR_040898 Q8WXR4:p.Val1137Ile SP substitution exon 1 VAR_040899 Q8WXR4:p.Arg1165Cys SP substitution exon 1 VAR_040900 Q96PY6:p.Ile10Phe SP substitution exon 1 VAR_040901 Q96PY6:p.Glu25Lys SP substitution exon 1 VAR_040902 Q96PY6:p.Leu76Val SP substitution exon 1 VAR_040903 Q96PY6:p.Ala294Pro SP substitution exon 1 VAR_040904 Q96PY6:p.Arg355Gly SP substitution exon 1 VAR_040905 Q96PY6:p.Ala463Val SP substitution exon 1 VAR_040906 Q96PY6:p.Lys745Asn SP substitution exon 1 VAR_040908 P51956:p.Pro60Arg SP substitution exon 1 VAR_040909 P51956:p.Arg122His SP substitution exon 1 VAR_040910 P51956:p.Pro170Leu SP substitution exon 1 VAR_040911 P51956:p.Arg259Gly SP substitution exon 1 VAR_040912 P51956:p.Glu305Asp SP substitution exon 1 VAR_040913 P51956:p.Asp461Asn SP substitution exon 1 VAR_040914 P51956:p.Glu477Lys SP substitution exon 1 VAR_040915 P51957:p.Pro225Ala SP substitution exon 1 VAR_040916 P51957:p.Arg239Gly SP substitution exon 1 VAR_040917 P51957:p.Pro250Leu SP substitution exon 1 VAR_040918 P51957:p.Thr357Ile SP substitution exon 1 VAR_040919 P51957:p.Gln456Glu SP substitution exon 1 VAR_040920 P51957:p.Phe567Leu SP substitution exon 1 VAR_040921 P51957:p.Arg777Lys SP substitution exon 1 VAR_040922 Q6P3R8:p.Arg290His SP substitution exon 1 VAR_040923 Q6P3R8:p.Cys531Arg SP substitution exon 1 VAR_040924 Q8TDX7:p.Arg35Gly SP substitution exon 1 VAR_040925 Q8TDX7:p.Ile275Met SP substitution exon 1 VAR_040926 Q8TD19:p.Pro828Thr SP substitution exon 1 VAR_040927 Q8TD19:p.Pro870Ser SP substitution exon 1 VAR_040935 Q8NG66:p.Thr108Met SP substitution exon 1 VAR_040936 Q8NG66:p.Tyr123Cys SP substitution exon 1 VAR_040937 Q8NG66:p.Ser213Leu SP substitution exon 1 VAR_040938 Q8NG66:p.Ile263Val SP substitution exon 1 VAR_040939 Q8NG66:p.Glu451Lys SP substitution exon 1 VAR_040945 Q8IY84:p.Arg21Trp SP substitution exon 1 VAR_040946 Q8IY84:p.Glu64Gln SP substitution exon 1 VAR_040947 Q8IY84:p.Leu260Ile SP substitution exon 1 VAR_040948 Q8IY84:p.Met320Ile SP substitution exon 1 VAR_040949 Q8IY84:p.Pro333Ser SP substitution exon 1 VAR_040950 Q8IY84:p.Pro411Thr SP substitution exon 1 VAR_040951 Q7Z2Y5:p.Gln355His SP substitution exon 1 VAR_040952 Q7Z2Y5:p.Ser424Cys SP substitution exon 1 VAR_040953 Q7Z2Y5:p.Pro426Ala SP substitution exon 1 VAR_040954 Q7Z2Y5:p.Glu579Gly SP substitution exon 1 VAR_040955 Q7Z2Y5:p.Glu679Gly SP substitution exon 1 VAR_040956 Q7Z2Y5:p.Ile880Leu SP substitution exon 1 VAR_040957 Q7Z2Y5:p.Asp971Gly SP substitution exon 1 VAR_040958 Q7Z2Y5:p.Pro1106Ser SP substitution exon 1 VAR_040959 Q7Z2Y5:p.Ala1121Pro SP substitution exon 1 VAR_040960 Q7Z2Y5:p.His1276Leu SP substitution exon 1 VAR_040961 Q7Z2Y5:p.Gly1471Ala SP substitution exon 1 VAR_040962 Q7Z2Y5:p.Met1472Leu SP substitution exon 1 VAR_040963 O60285:p.Gly419Asp SP substitution exon 1 VAR_040964 Q9H093:p.Thr309Ser SP substitution exon 1 VAR_040965 Q9H093:p.Arg341Leu SP substitution exon 1 VAR_040966 Q9H093:p.Lys503Arg SP substitution exon 1 VAR_040967 Q9H093:p.Ala516Val SP substitution exon 1 VAR_040968 Q9H093:p.Gly541Glu SP substitution exon 1 VAR_040969 O95747:p.Pro433Ser SP substitution exon 1 VAR_040970 O96013:p.Arg135Gln SP substitution exon 1 VAR_040971 O96013:p.Ala139Thr SP substitution exon 1 VAR_040972 Q9NQU5:p.Glu184Lys SP substitution exon 1 VAR_040973 Q9NQU5:p.Gly205Glu SP substitution exon 1 VAR_040974 Q9NQU5:p.Pro208Thr SP substitution exon 1 VAR_040975 Q9NQU5:p.Thr210Met SP substitution exon 1 VAR_040976 Q9NQU5:p.Ala376Val SP substitution exon 1 VAR_040977 Q9NQU5:p.Leu514Arg SP substitution exon 1 VAR_040978 Q9P286:p.Gly118Asp SP substitution exon 1 VAR_040979 Q9P286:p.Pro187Ala SP substitution exon 1 VAR_040980 Q9P286:p.Ser312Pro SP substitution exon 1 VAR_040981 Q9P286:p.Arg335Pro SP substitution exon 1 VAR_040982 Q9P286:p.Thr538Asn SP substitution exon 1 VAR_040983 Q9P286:p.Ala555Ser SP substitution exon 1 VAR_040984 Q9P286:p.Val604Ile SP substitution exon 1 VAR_040986 Q96RG2:p.Glu11Lys SP substitution exon 1 VAR_040987 Q96RG2:p.Gln426Arg SP substitution exon 1 VAR_040988 Q96RG2:p.Thr512Ala SP substitution exon 1 VAR_040989 Q96RG2:p.Pro684Arg SP substitution exon 1 VAR_040990 Q96RG2:p.Glu796Lys SP substitution exon 1 VAR_040991 Q96RG2:p.Pro844Gln SP substitution exon 1 VAR_040992 Q96RG2:p.Arg937His SP substitution exon 1 VAR_040994 Q16816:p.Val48Met SP substitution exon 1 VAR_040996 P15735:p.Ala317Thr SP substitution exon 1 VAR_040997 Q99570:p.Phe273Leu SP substitution exon 1 VAR_040998 Q99570:p.Arg342His SP substitution exon 1 VAR_040999 Q99570:p.Arg347Trp SP substitution exon 1 VAR_041000 Q99570:p.Thr388Ile SP substitution exon 1 VAR_041001 Q99570:p.Asp393Asn SP substitution exon 1 VAR_041002 Q99570:p.Leu699Val SP substitution exon 1 VAR_041003 Q99570:p.Gly1043Val SP substitution exon 1 VAR_041004 P11309:p.Tyr144His SP substitution exon 1 VAR_041005 P11309:p.Glu215Gln SP substitution exon 1 VAR_041006 P11309:p.Glu226Lys SP substitution exon 1 VAR_041007 P11309:p.Glu233Asp SP substitution exon 1 VAR_041008 Q9P1W9:p.Gly138Asp SP substitution exon 1 VAR_041009 Q9P1W9:p.Ile280Val SP substitution exon 1 VAR_041010 Q9BXM7:p.Leu148Trp SP substitution exon 1 VAR_041011 Q9BXM7:p.Pro196Ser SP substitution exon 1 VAR_041012 Q9BXM7:p.Pro209Leu SP substitution exon 1 VAR_041013 Q9BXM7:p.Pro215Leu SP substitution exon 1 VAR_041014 Q9BXM7:p.Ala339Thr SP substitution exon 1 VAR_041015 Q9BXM7:p.Met341Ile SP substitution exon 1 VAR_041016 Q9BXM7:p.Cys377Phe SP substitution exon 1 VAR_041017 Q9BXM7:p.Ser477Thr SP substitution exon 1 VAR_041018 P53350:p.Arg12Leu SP substitution exon 1 VAR_041019 P53350:p.Leu261Phe SP substitution exon 1 VAR_041020 P53350:p.Leu332Val SP substitution exon 1 VAR_041021 P53350:p.Leu463His SP substitution exon 1 VAR_041022 P53350:p.Arg518His SP substitution exon 1 VAR_041023 Q9NYY3:p.Ser14Thr SP substitution exon 1 VAR_041024 Q9NYY3:p.Gly92Ser SP substitution exon 1 VAR_041025 Q9NYY3:p.Glu436Lys SP substitution exon 1 VAR_041026 Q9NYY3:p.Pro487Leu SP substitution exon 1 VAR_041027 O00444:p.Tyr86Cys SP substitution exon 1 VAR_041028 O00444:p.Arg146His SP substitution exon 1 VAR_041029 O00444:p.Ala226Thr SP substitution exon 1 VAR_041030 O00444:p.Pro317Leu SP substitution exon 1 VAR_041031 O00444:p.Asn449Asp SP substitution exon 1 VAR_041032 O00444:p.Trp519Ser SP substitution exon 1 VAR_041033 O00444:p.Glu830Asp SP substitution exon 1 VAR_041034 Q99640:p.Glu103Gln SP substitution exon 1 VAR_041035 Q99640:p.Arg246His SP substitution exon 1 VAR_041036 Q99640:p.Glu351Lys SP substitution exon 1 VAR_041037 P04049:p.Ser259Ala SP substitution exon 1 VAR_041038 P04049:p.Gln335His SP substitution exon 1 VAR_041039 Q13546:p.Ala64Val SP substitution exon 1 VAR_041040 Q13546:p.Val81Ile SP substitution exon 1 VAR_041041 Q13546:p.Ala220Val SP substitution exon 1 VAR_041042 Q13546:p.Ala404Ser SP substitution exon 1 VAR_041043 Q13546:p.Ala443Val SP substitution exon 1 VAR_041044 Q13546:p.Ala569Val SP substitution exon 1 VAR_041045 O43353:p.Ile259Thr SP substitution exon 1 VAR_041046 O43353:p.Leu268Val SP substitution exon 1 VAR_041047 O43353:p.Lys313Asn SP substitution exon 1 VAR_041048 Q9Y572:p.Thr300Met SP substitution exon 1 VAR_041055 Q13464:p.Ser108Asn SP substitution exon 1 VAR_041056 Q13464:p.Thr773Ser SP substitution exon 1 VAR_041057 Q13464:p.Thr1112Pro SP substitution exon 1 VAR_041058 Q13464:p.Pro1193Ser SP substitution exon 1 VAR_041059 Q13464:p.Gln1217Glu SP substitution exon 1 VAR_041060 Q13464:p.Arg1262Gln SP substitution exon 1 VAR_041061 Q13464:p.Cys1264Arg SP substitution exon 1 VAR_041062 O75116:p.Thr431Asn SP substitution exon 1 VAR_041063 O75116:p.Asp601Val SP substitution exon 1 VAR_041064 O75116:p.Ser1194Pro SP substitution exon 1 VAR_041065 Q9Y6S9:p.Arg21Gln SP substitution exon 1 VAR_041066 Q9Y6S9:p.Pro121Leu SP substitution exon 1 VAR_041067 Q9Y6S9:p.Arg332Trp SP substitution exon 1 VAR_041068 Q52WX2:p.Lys92Glu SP substitution exon 1 VAR_041069 Q52WX2:p.Asn250Thr SP substitution exon 1 VAR_041070 Q52WX2:p.Ala261Ser SP substitution exon 1 VAR_041071 O00141:p.Val219Ile SP substitution exon 1 VAR_041072 O00141:p.Ala342Val SP substitution exon 1 VAR_041073 Q9HBY8:p.Ser12Thr SP substitution exon 1 VAR_041074 Q9HBY8:p.Glu259Lys SP substitution exon 1 VAR_041075 Q9HBY8:p.His349Tyr SP substitution exon 1 VAR_041076 Q96BR1:p.Leu355Pro SP substitution exon 1 VAR_041077 P0C263:p.Glu20Lys SP substitution exon 1 VAR_041078 P0C263:p.Ala41Glu SP substitution exon 1 VAR_041079 P0C263:p.Gly102Asp SP substitution exon 1 VAR_041080 Q9H2G2:p.Gln405Lys SP substitution exon 1 VAR_041081 Q9H2G2:p.Cys552Tyr SP substitution exon 1 VAR_041082 Q9H2G2:p.Glu604Gln SP substitution exon 1 VAR_041083 Q9H2G2:p.Ala658Gly SP substitution exon 1 VAR_041084 Q9H2G2:p.Ile679Thr SP substitution exon 1 VAR_041085 Q9H2G2:p.Lys683Asn SP substitution exon 1 VAR_041086 Q9H2G2:p.Thr697Ile SP substitution exon 1 VAR_041087 P57059:p.Gly15Ser SP substitution exon 1 VAR_041088 P57059:p.Asp142Asn SP substitution exon 1 VAR_041089 P57059:p.Gly211Ser SP substitution exon 1 VAR_041090 P57059:p.Gly469Asp SP substitution exon 1 VAR_041091 P57059:p.Pro696Leu SP substitution exon 1 VAR_041092 P57059:p.Ala725Val SP substitution exon 1 VAR_041093 Q9H0K1:p.Thr458Ile SP substitution exon 1 VAR_041094 Q9H0K1:p.Arg809Gln SP substitution exon 1 VAR_041095 Q9H0K1:p.Pro825Leu SP substitution exon 1 VAR_041096 Q9NRH2:p.Leu260Ser SP substitution exon 1 VAR_041097 Q9NRH2:p.Pro391Ser SP substitution exon 1 VAR_041101 Q15772:p.Arg206His SP substitution exon 1 VAR_041102 Q15772:p.Arg934Cys SP substitution exon 1 VAR_041103 Q15772:p.Arg966Gln SP substitution exon 1 VAR_041104 Q15772:p.Pro1103Leu SP substitution exon 1 VAR_041105 Q15772:p.Ala1135Val SP substitution exon 1 VAR_041106 Q15772:p.Glu1178Asp SP substitution exon 1 VAR_041107 Q15772:p.Arg1234Trp SP substitution exon 1 VAR_041108 Q15772:p.Arg1340Gln SP substitution exon 1 VAR_041109 Q15772:p.Arg1621Cys SP substitution exon 1 VAR_041110 Q15772:p.Arg1903Trp SP substitution exon 1 VAR_041111 Q15772:p.Pro2687Thr SP substitution exon 1 VAR_041112 Q15772:p.Val2742Met SP substitution exon 1 VAR_041113 Q15772:p.His3079Arg SP substitution exon 1 VAR_041114 P78362:p.Pro43Leu SP substitution exon 1 VAR_041115 P78362:p.Gly243Asp SP substitution exon 1 VAR_041116 P78362:p.Thr426Pro SP substitution exon 1 VAR_041117 P78362:p.Ser486Phe SP substitution exon 1 VAR_041118 P78362:p.Pro515Thr SP substitution exon 1 VAR_041119 Q9UPE1:p.Arg101Cys SP substitution exon 1 VAR_041120 Q9UPE1:p.Gly114Glu SP substitution exon 1 VAR_041121 Q9UPE1:p.Glu233Lys SP substitution exon 1 VAR_041122 Q13188:p.Val60Leu SP substitution exon 1 VAR_041123 Q13043:p.His162Asn SP substitution exon 1 VAR_041124 Q13043:p.Arg310Gln SP substitution exon 1 VAR_041127 O14965:p.Pro50Leu SP substitution exon 1 VAR_041128 O14965:p.Ser155Arg SP substitution exon 1 VAR_041129 O14965:p.Val174Met SP substitution exon 1 VAR_041130 O14965:p.Met373Val SP substitution exon 1 VAR_041131 O94804:p.Arg268Cys SP substitution exon 1 VAR_041132 O94804:p.Arg322Trp SP substitution exon 1 VAR_041133 O94804:p.Thr336Ile SP substitution exon 1 VAR_041134 O94804:p.Asn467Ser SP substitution exon 1 VAR_041135 O94804:p.Met710Thr SP substitution exon 1 VAR_041136 O94804:p.Ser853Leu SP substitution exon 1 VAR_041137 O94804:p.Ser905Thr SP substitution exon 1 VAR_041138 O94804:p.Cys947Tyr SP substitution exon 1 VAR_041139 Q15831:p.Arg87Lys SP substitution exon 1 VAR_041140 O75716:p.His41Arg SP substitution exon 1 VAR_041141 O75716:p.Glu55Lys SP substitution exon 1 VAR_041142 O75716:p.Ile77Val SP substitution exon 1 VAR_041143 O75716:p.Arg266Trp SP substitution exon 1 VAR_041144 O75716:p.Pro277Leu SP substitution exon 1 VAR_041145 Q9UEE5:p.Glu126Asp SP substitution exon 1 VAR_041146 Q9UEE5:p.Met167Thr SP substitution exon 1 VAR_041147 O94768:p.Ser320Phe SP substitution exon 1 VAR_041148 Q9Y6E0:p.Ala414Val SP substitution exon 1 VAR_041149 Q9Y6E0:p.Leu426Ile SP substitution exon 1 VAR_041150 Q9BXU1:p.Ser125Phe SP substitution exon 1 VAR_041151 Q9BXU1:p.Ile277Lys SP substitution exon 1 VAR_041152 Q9BXU1:p.Ala393Thr SP substitution exon 1 VAR_041153 Q9BXU1:p.Ala489Pro SP substitution exon 1 VAR_041154 Q9BXU1:p.Ala600Thr SP substitution exon 1 VAR_041155 Q9BXU1:p.Asn621Lys SP substitution exon 1 VAR_041156 Q9BXU1:p.Ser623Ile SP substitution exon 1 VAR_041157 Q9BXU1:p.His684Arg SP substitution exon 1 VAR_041158 Q9BXU1:p.His684Tyr SP substitution exon 1 VAR_041159 Q9BXU1:p.Glu709Lys SP substitution exon 1 VAR_041160 Q9BXU1:p.Val860Leu SP substitution exon 1 VAR_041163 Q8WU08:p.Lys58Met SP substitution exon 1 VAR_041164 Q8WU08:p.Ser89Phe SP substitution exon 1 VAR_041165 Q8WU08:p.Met316Ile SP substitution exon 1 VAR_041166 Q9NY57:p.Gly35Glu SP substitution exon 1 VAR_041167 Q9NY57:p.Arg244His SP substitution exon 1 VAR_041168 Q9NY57:p.Asp310Val SP substitution exon 1 VAR_041169 Q9NY57:p.Lys342Thr SP substitution exon 1 VAR_041172 Q9BYT3:p.Glu98Asp SP substitution exon 1 VAR_041173 Q9BYT3:p.Leu160Val SP substitution exon 1 VAR_041177 Q9NRP7:p.Ile90Met SP substitution exon 1 VAR_041178 Q9NRP7:p.Arg240Trp SP substitution exon 1 VAR_041179 Q9NRP7:p.Lys295Arg SP substitution exon 1 VAR_041180 Q9NRP7:p.Asp329Asn SP substitution exon 1 VAR_041181 Q9NRP7:p.Leu462Val SP substitution exon 1 VAR_041182 Q9NRP7:p.Phe476Ser SP substitution exon 1 VAR_041183 Q9NRP7:p.Arg477Trp SP substitution exon 1 VAR_041184 Q9NRP7:p.Arg583Gln SP substitution exon 1 VAR_041185 Q9NRP7:p.Ser660Cys SP substitution exon 1 VAR_041186 Q9NRP7:p.Leu672Pro SP substitution exon 1 VAR_041187 Q9NRP7:p.Ser767Tyr SP substitution exon 1 VAR_041188 Q9NRP7:p.Thr816Ala SP substitution exon 1 VAR_041189 Q9NRP7:p.Arg839Gln SP substitution exon 1 VAR_041190 Q9NRP7:p.Leu840Val SP substitution exon 1 VAR_041191 Q9NRP7:p.Tyr1111Cys SP substitution exon 1 VAR_041192 Q9NRP7:p.Arg1112Gln SP substitution exon 1 VAR_041193 Q9NRP7:p.Gln1138Lys SP substitution exon 1 VAR_041194 Q9NRP7:p.Pro1185Ser SP substitution exon 1 VAR_041195 Q9NRP7:p.His1313Pro SP substitution exon 1 VAR_041196 Q15208:p.Glu18Lys SP substitution exon 1 VAR_041197 Q15208:p.Asp145Asn SP substitution exon 1 VAR_041198 Q15208:p.Lys267Arg SP substitution exon 1 VAR_041199 Q9Y2H1:p.Gly99Ala SP substitution exon 1 VAR_041200 Q8N2I9:p.Ala10Val SP substitution exon 1 VAR_041201 Q8N2I9:p.Met133Thr SP substitution exon 1 VAR_041202 Q8N2I9:p.Arg211Gln SP substitution exon 1 VAR_041203 Q8N2I9:p.Ala395Thr SP substitution exon 1 VAR_041204 Q7L7X3:p.Ala855Thr SP substitution exon 1 VAR_041205 Q9H2K8:p.Pro20Thr SP substitution exon 1 VAR_041206 Q9H2K8:p.Ser392Tyr SP substitution exon 1 VAR_041207 Q9H2K8:p.Cys727Tyr SP substitution exon 1 VAR_041208 Q9UHD2:p.Arg271Gln SP substitution exon 1 VAR_041209 Q9UHD2:p.Lys291Glu SP substitution exon 1 VAR_041210 Q9UHD2:p.Asp296His SP substitution exon 1 VAR_041211 Q9UHD2:p.Gly410Arg SP substitution exon 1 VAR_041212 Q9UHD2:p.Val464Ala SP substitution exon 1 VAR_041214 Q96S53:p.Gly11Ala SP substitution exon 1 VAR_041215 Q9UKI8:p.Arg121Cys SP substitution exon 1 VAR_041216 Q86UE8:p.His6Arg SP substitution exon 1 VAR_041217 Q86UE8:p.Glu54Asp SP substitution exon 1 VAR_041218 Q86UE8:p.Ala95Gly SP substitution exon 1 VAR_041219 Q86UE8:p.Ala108Gly SP substitution exon 1 VAR_041220 Q86UE8:p.Arg109Leu SP substitution exon 1 VAR_041221 Q86UE8:p.Phe173Leu SP substitution exon 1 VAR_041222 Q86UE8:p.Arg262Gln SP substitution exon 1 VAR_041223 Q59H18:p.Asp151His SP substitution exon 1 VAR_041224 Q59H18:p.Pro263Leu SP substitution exon 1 VAR_041225 Q59H18:p.Phe309Leu SP substitution exon 1 VAR_041226 Q59H18:p.Ser430Leu SP substitution exon 1 VAR_041227 Q59H18:p.Val510Leu SP substitution exon 1 VAR_041228 Q59H18:p.Thr637Met SP substitution exon 1 VAR_041229 Q59H18:p.Ile686Thr SP substitution exon 1 VAR_041230 Q59H18:p.Met798Ile SP substitution exon 1 VAR_041231 Q9UKE5:p.Lys778Glu SP substitution exon 1 VAR_041232 Q9UKE5:p.Gly910Glu SP substitution exon 1 VAR_041233 Q9UKE5:p.Ala999Thr SP substitution exon 1 VAR_041234 Q96KB5:p.Met241Leu SP substitution exon 1 VAR_041235 Q9BXA7:p.Ala50Thr SP substitution exon 1 VAR_041236 Q9BXA7:p.His83Tyr SP substitution exon 1 VAR_041237 Q9BXA7:p.Val233Leu SP substitution exon 1 VAR_041238 Q9BXA7:p.Arg237Cys SP substitution exon 1 VAR_041239 Q9BXA7:p.Gly288Trp SP substitution exon 1 VAR_041240 Q9BXA7:p.Gly293Glu SP substitution exon 1 VAR_041241 Q96PF2:p.Lys27Arg SP substitution exon 1 VAR_041242 Q96PF2:p.Met61Val SP substitution exon 1 VAR_041243 Q96PF2:p.Tyr197Cys SP substitution exon 1 VAR_041244 Q96PF2:p.Thr280Met SP substitution exon 1 VAR_041245 Q96PN8:p.Ala140Thr SP substitution exon 1 VAR_041246 Q96PN8:p.Ser235Leu SP substitution exon 1 VAR_041247 Q6SA08:p.His33Tyr SP substitution exon 1 VAR_041248 Q6SA08:p.Tyr89Cys SP substitution exon 1 VAR_041249 Q6SA08:p.Val145Met SP substitution exon 1 VAR_041250 Q6SA08:p.Gln196Arg SP substitution exon 1 VAR_041252 Q5TCY1:p.Pro613Leu SP substitution exon 1 VAR_041253 Q5TCY1:p.Gly623Ala SP substitution exon 1 VAR_041254 Q5TCY1:p.Pro649Arg SP substitution exon 1 VAR_041255 Q5TCY1:p.Asp741Glu SP substitution exon 1 VAR_041256 Q5TCY1:p.Glu744Asp SP substitution exon 1 VAR_041257 Q5TCY1:p.Ser806Phe SP substitution exon 1 VAR_041258 Q5TCY1:p.Pro855Ser SP substitution exon 1 VAR_041259 Q5TCY1:p.Lys1145Arg SP substitution exon 1 VAR_041260 Q5TCY1:p.Leu1184Ser SP substitution exon 1 VAR_041261 Q6IQ55:p.Leu8Pro SP substitution exon 1 VAR_041262 Q6IQ55:p.Arg120Gln SP substitution exon 1 VAR_041263 Q6IQ55:p.Thr313Ala SP substitution exon 1 VAR_041264 Q6IQ55:p.Val440Met SP substitution exon 1 VAR_041265 Q6IQ55:p.Arg500Pro SP substitution exon 1 VAR_041266 Q6IQ55:p.Asp635Gly SP substitution exon 1 VAR_041267 Q6IQ55:p.Thr1062Ile SP substitution exon 1 VAR_041268 Q6IQ55:p.Thr1084Met SP substitution exon 1 VAR_041269 Q6IQ55:p.Val1097Ala SP substitution exon 1 VAR_041270 Q6IQ55:p.Pro1122Arg SP substitution exon 1 VAR_041272 Q8TAS1:p.Leu159Val SP substitution exon 1 VAR_041273 Q8TAS1:p.Tyr197Asp SP substitution exon 1 VAR_041274 O75385:p.Val290Met SP substitution exon 1 VAR_041275 O75385:p.Ser298Leu SP substitution exon 1 VAR_041276 O75385:p.Pro478Leu SP substitution exon 1 VAR_041277 O75385:p.Thr503Met SP substitution exon 1 VAR_041278 O75385:p.Ser665Leu SP substitution exon 1 VAR_041279 O75385:p.Pro714Leu SP substitution exon 1 VAR_041280 O75385:p.Ser784Cys SP substitution exon 1 VAR_041281 Q8IYT8:p.Pro242Ser SP substitution exon 1 VAR_041282 Q8IYT8:p.Gly627Glu SP substitution exon 1 VAR_041283 Q8IYT8:p.Ala662Val SP substitution exon 1 VAR_041284 Q8IYT8:p.Gly752Arg SP substitution exon 1 VAR_041285 Q8IYT8:p.Asp842Glu SP substitution exon 1 VAR_041286 Q96C45:p.Val18Ala SP substitution exon 1 VAR_041287 Q96C45:p.Lys39Arg SP substitution exon 1 VAR_041288 Q96C45:p.Asn139Lys SP substitution exon 1 VAR_041289 Q96C45:p.Ser223Asn SP substitution exon 1 VAR_041290 Q96C45:p.Ser348Gly SP substitution exon 1 VAR_041291 Q96C45:p.Thr415Met SP substitution exon 1 VAR_041292 Q96C45:p.Ser417Pro SP substitution exon 1 VAR_041293 Q86Y07:p.Asn50Asp SP substitution exon 1 VAR_041294 Q86Y07:p.Ile157Met SP substitution exon 1 VAR_041295 Q8IV63:p.Ser59Phe SP substitution exon 1 VAR_041296 Q8IV63:p.Pro105Thr SP substitution exon 1 VAR_041297 Q8IV63:p.Phe171Leu SP substitution exon 1 VAR_041298 Q8IV63:p.Ser268Leu SP substitution exon 1 VAR_041299 Q8IV63:p.Cys288Tyr SP substitution exon 1 VAR_041300 Q8IV63:p.Arg370Cys SP substitution exon 1 VAR_041301 Q8IV63:p.Ser371Gly SP substitution exon 1 VAR_041302 P30291:p.Gly210Cys SP substitution exon 1 VAR_041304 P0C1S8:p.Lys8Thr SP substitution exon 1 VAR_041305 P0C1S8:p.Asn332Lys SP substitution exon 1 VAR_041306 P0C1S8:p.Arg398His SP substitution exon 1 VAR_041307 P0C1S8:p.Asp470Glu SP substitution exon 1 VAR_041308 P0C1S8:p.Tyr526Asp SP substitution exon 1 VAR_041309 Q9H4A3:p.Ala141Thr SP substitution exon 1 VAR_041310 Q9H4A3:p.Ala149Val SP substitution exon 1 VAR_041311 Q9H4A3:p.Glu419Gln SP substitution exon 1 VAR_041312 Q9H4A3:p.Ile509Thr SP substitution exon 1 VAR_041313 Q9H4A3:p.Asp527Gly SP substitution exon 1 VAR_041314 Q9H4A3:p.Thr674Ala SP substitution exon 1 VAR_041315 Q9H4A3:p.His823Arg SP substitution exon 1 VAR_041316 Q9H4A3:p.Ala1546Val SP substitution exon 1 VAR_041317 Q9H4A3:p.Met1808Ile SP substitution exon 1 VAR_041318 Q9H4A3:p.Pro1823Leu SP substitution exon 1 VAR_041319 Q9H4A3:p.Arg1957His SP substitution exon 1 VAR_041320 Q9H4A3:p.Ser2190Cys SP substitution exon 1 VAR_041321 Q9H4A3:p.Phe2362Leu SP substitution exon 1 VAR_041322 Q9H4A3:p.Arg2380Trp SP substitution exon 1 VAR_041323 Q9BYP7:p.Gln704His SP substitution exon 1 VAR_041324 Q9BYP7:p.Ser854Cys SP substitution exon 1 VAR_041325 Q9BYP7:p.Ala998Thr SP substitution exon 1 VAR_041326 Q9BYP7:p.Lys1169Glu SP substitution exon 1 VAR_041327 Q9BYP7:p.Thr1375Ile SP substitution exon 1 VAR_041328 Q9BYP7:p.Leu1533Phe SP substitution exon 1 VAR_041329 Q9BYP7:p.Ser1634Pro SP substitution exon 1 VAR_041330 Q96J92:p.Glu434Asp SP substitution exon 1 VAR_041334 Q56UN5:p.Ile500Met SP substitution exon 1 VAR_041335 Q9C0K7:p.Gly155Glu SP substitution exon 1 VAR_041336 Q9C0K7:p.Pro386Leu SP substitution exon 1 VAR_041337 Q8NCB2:p.Arg40Trp SP substitution exon 1 VAR_041338 Q8NCB2:p.Gly60Ser SP substitution exon 1 VAR_041339 Q8NCB2:p.Arg274Trp SP substitution exon 1 VAR_041340 Q8NCB2:p.Glu279Asp SP substitution exon 1 VAR_041342 O43187:p.Arg43Gln SP substitution exon 1 VAR_041343 O43187:p.Ile99Val SP substitution exon 1 VAR_041344 O43187:p.Arg147Thr SP substitution exon 1 VAR_041345 O43187:p.Arg214Gly SP substitution exon 1 VAR_041346 O43187:p.Ser249Leu SP substitution exon 1 VAR_041347 O43187:p.Pro421Thr SP substitution exon 1 VAR_041348 O43187:p.Asp469Asn SP substitution exon 1 VAR_041349 O43187:p.Arg566Trp SP substitution exon 1 VAR_041350 Q8NB16:p.Ser52Thr SP substitution exon 1 VAR_041351 Q8NB16:p.Asp100Glu SP substitution exon 1 VAR_041352 Q8NB16:p.Ser132Pro SP substitution exon 1 VAR_041353 Q8NB16:p.Arg146Gln SP substitution exon 1 VAR_041354 Q8NB16:p.Met169Leu SP substitution exon 1 VAR_041355 Q8NB16:p.Leu291Pro SP substitution exon 1 VAR_041356 Q8NB16:p.Thr364Met SP substitution exon 1 VAR_041357 Q8NB16:p.Phe398Ile SP substitution exon 1 VAR_041358 Q8NB16:p.Arg421His SP substitution exon 1 VAR_041364 Q96KG9:p.Pro479Leu SP substitution exon 1 VAR_041365 Q96KG9:p.His495Tyr SP substitution exon 1 VAR_041366 Q96KG9:p.Gln663His SP substitution exon 1 VAR_041367 Q96KG9:p.Trp755Ser SP substitution exon 1 VAR_041368 Q6P3W7:p.Pro357Leu SP substitution exon 1 VAR_041371 Q8NE28:p.Gly139Asp SP substitution exon 1 VAR_041372 Q9H5K3:p.Ser48Pro SP substitution exon 1 VAR_041373 Q9H5K3:p.Tyr140Phe SP substitution exon 1 VAR_041374 Q9H5K3:p.Val254Met SP substitution exon 1 VAR_041375 Q9H5K3:p.Met301Thr SP substitution exon 1 VAR_041376 Q9H5K3:p.Met342Ile SP substitution exon 1 VAR_041377 Q7RTN6:p.Arg13Trp SP substitution exon 1 VAR_041378 Q7RTN6:p.Ser60Ile SP substitution exon 1 VAR_041379 Q7RTN6:p.Pro64Ser SP substitution exon 1 VAR_041380 Q8TEA7:p.Arg66Leu SP substitution exon 1 VAR_041381 Q8TEA7:p.Ile151Met SP substitution exon 1 VAR_041382 Q8TEA7:p.Asp265Asn SP substitution exon 1 VAR_041383 Q8TEA7:p.Thr425Met SP substitution exon 1 VAR_041384 Q8TEA7:p.Met471Ile SP substitution exon 1 VAR_041385 Q8TEA7:p.Arg503Ile SP substitution exon 1 VAR_041388 Q8IWB6:p.Asp88Gly SP substitution exon 1 VAR_041389 Q8IWB6:p.Lys321Glu SP substitution exon 1 VAR_041390 Q8IWB6:p.Ser443Cys SP substitution exon 1 VAR_041391 Q8IWB6:p.Ile559Met SP substitution exon 1 VAR_041392 Q04771:p.Ala15Gly SP substitution exon 1 VAR_041393 Q04771:p.Ser41Phe SP substitution exon 1 VAR_041394 Q04771:p.His47Gln SP substitution exon 1 VAR_041395 Q04771:p.Pro115Ser SP substitution exon 1 VAR_041396 Q13705:p.Pro176Arg SP substitution exon 1 VAR_041397 P36894:p.Pro2Thr SP substitution exon 1 VAR_041398 P36894:p.Phe58Tyr SP substitution exon 1 VAR_041399 P36894:p.Val450Met SP substitution exon 1 VAR_041400 P36894:p.Arg486Gln SP substitution exon 1 VAR_041401 O00238:p.Arg31His SP substitution exon 1 VAR_041402 O00238:p.Arg149Trp SP substitution exon 1 VAR_041403 O00238:p.Arg224His SP substitution exon 1 VAR_041404 O00238:p.Asp297Asn SP substitution exon 1 VAR_041405 O00238:p.Arg371Gln SP substitution exon 1 VAR_041406 P36896:p.Phe146Leu SP substitution exon 1 VAR_041407 Q8NER5:p.Ile195Thr SP substitution exon 1 VAR_041408 Q8NER5:p.Gly216Arg SP substitution exon 1 VAR_041409 Q8NER5:p.Trp267Arg SP substitution exon 1 VAR_041410 Q8NER5:p.Ile355Val SP substitution exon 1 VAR_041411 Q8NER5:p.Ile482Val SP substitution exon 1 VAR_041412 P36897:p.Val153Ile SP substitution exon 1 VAR_041413 P36897:p.Tyr291Cys SP substitution exon 1 VAR_041414 P37173:p.Cys61Arg SP substitution exon 1 VAR_041418 Q7Z695:p.Val418Leu SP substitution exon 1 VAR_041419 Q7Z695:p.Pro626Leu SP substitution exon 1 VAR_041420 Q96D53:p.Arg78Cys SP substitution exon 1 VAR_041421 Q96D53:p.Thr318Met SP substitution exon 1 VAR_041422 Q96D53:p.Thr352Arg SP substitution exon 1 VAR_041423 Q96D53:p.Thr462Met SP substitution exon 1 VAR_041424 P08069:p.Val105Leu SP substitution exon 1 VAR_041425 P08069:p.Arg595His SP substitution exon 1 VAR_041429 P06213:p.Cys228Arg SP substitution exon 1 VAR_041430 P06213:p.Gln695Arg SP substitution exon 1 VAR_041434 P14616:p.Ala127Glu SP substitution exon 1 VAR_041435 P14616:p.Ala161Val SP substitution exon 1 VAR_041436 P14616:p.Arg244His SP substitution exon 1 VAR_041437 P14616:p.Cys246Arg SP substitution exon 1 VAR_041438 P14616:p.Glu278Gln SP substitution exon 1 VAR_041439 P14616:p.Arg554Cys SP substitution exon 1 VAR_041440 P14616:p.Pro928Leu SP substitution exon 1 VAR_041441 P14616:p.Gly1065Glu SP substitution exon 1 VAR_041442 P08922:p.Asn13Ser SP substitution exon 1 VAR_041443 P08922:p.Gly126Val SP substitution exon 1 VAR_041444 P08922:p.Pro224Ser SP substitution exon 1 VAR_041445 P08922:p.Tyr338Cys SP substitution exon 1 VAR_041446 P08922:p.Ser370Pro SP substitution exon 1 VAR_041447 P08922:p.Tyr419His SP substitution exon 1 VAR_041448 P08922:p.Ile537Met SP substitution exon 1 VAR_041449 P08922:p.Ser653Phe SP substitution exon 1 VAR_041450 P08922:p.Gln865His SP substitution exon 1 VAR_041451 P08922:p.Tyr1239Phe SP substitution exon 1 VAR_041452 P08922:p.Tyr1353Ser SP substitution exon 1 VAR_041453 P08922:p.Cys1370Arg SP substitution exon 1 VAR_041454 P08922:p.Arg1506Gly SP substitution exon 1 VAR_041455 P08922:p.His1999Asn SP substitution exon 1 VAR_041456 P08922:p.Lys2003Arg SP substitution exon 1 VAR_041457 P08922:p.Phe2138Ser SP substitution exon 1 VAR_041458 P08922:p.Asp2203Asn SP substitution exon 1 VAR_041459 P08922:p.Asp2213Glu SP substitution exon 1 VAR_041460 P08922:p.Lys2228Gln SP substitution exon 1 VAR_041461 P04629:p.Gln80Arg SP substitution exon 1 VAR_041462 P04629:p.Ala107Val SP substitution exon 1 VAR_041463 P04629:p.Thr237Met SP substitution exon 1 VAR_041464 P04629:p.Val238Gly SP substitution exon 1 VAR_041465 P04629:p.Arg260Gly SP substitution exon 1 VAR_041466 P04629:p.Arg444Gln SP substitution exon 1 VAR_041467 P04629:p.Arg452Cys SP substitution exon 1 VAR_041468 P04629:p.Met566Thr SP substitution exon 1 VAR_041469 P04629:p.Val790Ile SP substitution exon 1 VAR_041470 Q16620:p.Leu138Phe SP substitution exon 1 VAR_041471 Q16288:p.Thr149Arg SP substitution exon 1 VAR_041472 Q16288:p.Arg306Cys SP substitution exon 1 VAR_041473 Q16288:p.Val307Leu SP substitution exon 1 VAR_041474 Q16288:p.Leu336Gln SP substitution exon 1 VAR_041475 Q16288:p.His677Tyr SP substitution exon 1 VAR_041476 Q16288:p.Arg678Gln SP substitution exon 1 VAR_041477 Q9UM73:p.Ser90Leu SP substitution exon 1 VAR_041478 Q9UM73:p.Val163Leu SP substitution exon 1 VAR_041479 Q9UM73:p.Glu296Gln SP substitution exon 1 VAR_041480 Q9UM73:p.Val476Ala SP substitution exon 1 VAR_041481 Q9UM73:p.Leu560Phe SP substitution exon 1 VAR_041482 Q9UM73:p.Thr680Ile SP substitution exon 1 VAR_041483 Q9UM73:p.Ala704Thr SP substitution exon 1 VAR_041484 Q9UM73:p.Ala877Ser SP substitution exon 1 VAR_041485 Q9UM73:p.Thr1012Met SP substitution exon 1 VAR_041486 Q9UM73:p.Gly1121Asp SP substitution exon 1 VAR_041487 Q9UM73:p.Ala1274Thr SP substitution exon 1 VAR_041488 Q9UM73:p.Met1328Leu SP substitution exon 1 VAR_041489 Q9UM73:p.Lys1416Asn SP substitution exon 1 VAR_041490 Q9UM73:p.Glu1419Lys SP substitution exon 1 VAR_041491 Q9UM73:p.Gln1429Arg SP substitution exon 1 VAR_041498 Q16832:p.Arg105Ser SP substitution exon 1 VAR_041499 Q16832:p.Met441Ile SP substitution exon 1 VAR_041500 Q16832:p.Arg478Cys SP substitution exon 1 VAR_041501 Q16832:p.Val543Phe SP substitution exon 1 VAR_041502 Q13308:p.Arg276His SP substitution exon 1 VAR_041503 Q13308:p.Thr410Ser SP substitution exon 1 VAR_041504 Q13308:p.Glu745Asp SP substitution exon 1 VAR_041505 Q13308:p.Glu766Gln SP substitution exon 1 VAR_041506 Q13308:p.Ala777Val SP substitution exon 1 VAR_041507 Q13308:p.His783Arg SP substitution exon 1 VAR_041508 Q13308:p.Ala933Val SP substitution exon 1 VAR_041509 Q13308:p.Pro1029Thr SP substitution exon 1 VAR_041510 Q13308:p.Arg1038Gln SP substitution exon 1 VAR_041511 Q96QP1:p.Gln67Arg SP substitution exon 1 VAR_041512 Q96QP1:p.Thr292Met SP substitution exon 1 VAR_041513 Q96QP1:p.Leu320Met SP substitution exon 1 VAR_041514 Q96QP1:p.Lys339Glu SP substitution exon 1 VAR_041515 Q96QP1:p.Lys383Glu SP substitution exon 1 VAR_041516 Q96QP1:p.Pro660Leu SP substitution exon 1 VAR_041517 Q96QP1:p.Gly681Asp SP substitution exon 1 VAR_041518 Q96QP1:p.Arg873Ile SP substitution exon 1 VAR_041519 Q96QP1:p.Glu910Asp SP substitution exon 1 VAR_041520 Q96QP1:p.Pro935Leu SP substitution exon 1 VAR_041524 Q96L96:p.Arg336His SP substitution exon 1 VAR_041525 Q96L96:p.Thr338Ile SP substitution exon 1 VAR_041526 Q96L96:p.Gln433Glu SP substitution exon 1 VAR_041527 Q96L96:p.Gln602Arg SP substitution exon 1 VAR_041528 Q96L96:p.Gly663Asp SP substitution exon 1 VAR_041529 Q96L96:p.Arg836Leu SP substitution exon 1 VAR_041530 Q96L96:p.Glu929Asp SP substitution exon 1 VAR_041531 Q96L96:p.Gly1364Glu SP substitution exon 1 VAR_041532 Q96L96:p.Arg1412Trp SP substitution exon 1 VAR_041533 Q96L96:p.Ala1557Asp SP substitution exon 1 VAR_041534 O00418:p.Thr291Met SP substitution exon 1 VAR_041535 O00418:p.Arg433Trp SP substitution exon 1 VAR_041536 O00418:p.Asp609His SP substitution exon 1 VAR_041537 P42345:p.Ala8Ser SP substitution exon 1 VAR_041538 P42345:p.Met135Thr SP substitution exon 1 VAR_041539 P42345:p.Met1083Val SP substitution exon 1 VAR_041540 P42345:p.Ala1134Val SP substitution exon 1 VAR_041541 P42345:p.Ser1178Phe SP substitution exon 1 VAR_041542 P42345:p.Met2011Val SP substitution exon 1 VAR_041543 P42345:p.Ser2215Tyr SP substitution exon 1 VAR_041544 P42345:p.Pro2476Leu SP substitution exon 1 VAR_041545 Q13315:p.Arg23Gln SP substitution exon 1 VAR_041546 Q13315:p.Asp140His SP substitution exon 1 VAR_041547 Q13315:p.Arg250Gln SP substitution exon 1 VAR_041548 Q13315:p.Ser333Phe SP substitution exon 1 VAR_041549 Q13315:p.Arg337Cys SP substitution exon 1 VAR_041550 Q13315:p.Arg337His SP substitution exon 1 VAR_041551 Q13315:p.Val410Ala SP substitution exon 1 VAR_041552 Q13315:p.Asn504Ser SP substitution exon 1 VAR_041553 Q13315:p.Cys540Tyr SP substitution exon 1 VAR_041554 Q13315:p.Leu546Val SP substitution exon 1 VAR_041555 Q13315:p.Phe582Leu SP substitution exon 1 VAR_041556 Q13315:p.Glu848Gln SP substitution exon 1 VAR_041557 Q13315:p.Pro872Ser SP substitution exon 1 VAR_041558 Q13315:p.Arg924Trp SP substitution exon 1 VAR_041559 Q13315:p.Thr935Ala SP substitution exon 1 VAR_041560 Q13315:p.Ser1179Phe SP substitution exon 1 VAR_041561 Q13315:p.Met1321Ile SP substitution exon 1 VAR_041562 Q13315:p.His1380Tyr SP substitution exon 1 VAR_041563 Q13315:p.Pro1382Ser SP substitution exon 1 VAR_041564 Q13315:p.Ile1469Met SP substitution exon 1 VAR_041565 Q13315:p.Tyr1475Cys SP substitution exon 1 VAR_041566 Q13315:p.Asn1650Ser SP substitution exon 1 VAR_041584 Q13535:p.Thr64Ala SP substitution exon 1 VAR_041585 Q13535:p.His90Tyr SP substitution exon 1 VAR_041586 Q13535:p.Lys297Asn SP substitution exon 1 VAR_041587 Q13535:p.Val316Ile SP substitution exon 1 VAR_041588 Q13535:p.Val959Met SP substitution exon 1 VAR_041589 Q13535:p.Tyr1087His SP substitution exon 1 VAR_041590 Q13535:p.Ser1213Gly SP substitution exon 1 VAR_041591 Q13535:p.Ala1488Pro SP substitution exon 1 VAR_041592 Q13535:p.Ser1607Asn SP substitution exon 1 VAR_041593 Q13535:p.Asn1612Ser SP substitution exon 1 VAR_041594 Q13535:p.Ala2002Gly SP substitution exon 1 VAR_041595 Q13535:p.Gly2120Ala SP substitution exon 1 VAR_041596 Q13535:p.Tyr2132Asp SP substitution exon 1 VAR_041597 Q13535:p.Ser2233Ile SP substitution exon 1 VAR_041598 Q13535:p.Arg2425Gln SP substitution exon 1 VAR_041599 Q13535:p.Pro2434Ala SP substitution exon 1 VAR_041600 Q13535:p.Glu2438Lys SP substitution exon 1 VAR_041601 Q13535:p.Glu2537Gln SP substitution exon 1 VAR_041602 P78527:p.Lys263Asn SP substitution exon 1 VAR_041603 P78527:p.Val420Ile SP substitution exon 1 VAR_041604 P78527:p.Gly500Ser SP substitution exon 1 VAR_041605 P78527:p.Phe649Leu SP substitution exon 1 VAR_041606 P78527:p.Arg1136His SP substitution exon 1 VAR_041607 P78527:p.Leu1190Val SP substitution exon 1 VAR_041608 P78527:p.Ala1237Thr SP substitution exon 1 VAR_041609 P78527:p.Leu1279Phe SP substitution exon 1 VAR_041610 P78527:p.Arg1447Met SP substitution exon 1 VAR_041611 P78527:p.Ala1619Gly SP substitution exon 1 VAR_041612 P78527:p.Ala1680Val SP substitution exon 1 VAR_041613 P78527:p.Ser2023Pro SP substitution exon 1 VAR_041614 P78527:p.Arg2598Gln SP substitution exon 1 VAR_041615 P78527:p.Ser2810Asn SP substitution exon 1 VAR_041616 P78527:p.Gly2941Ala SP substitution exon 1 VAR_041617 P78527:p.Glu3085Asp SP substitution exon 1 VAR_041618 P78527:p.Thr3198Ser SP substitution exon 1 VAR_041619 P78527:p.Leu3584Phe SP substitution exon 1 VAR_041620 P78527:p.Leu3800Ile SP substitution exon 1 VAR_041621 P78527:p.Gly3936Ser SP substitution exon 1 VAR_041622 P78527:p.Val3937Met SP substitution exon 1 VAR_041623 Q96Q15:p.Ala35Thr SP substitution exon 1 VAR_041624 Q96Q15:p.Arg126Cys SP substitution exon 1 VAR_041625 Q96Q15:p.Ser144Cys SP substitution exon 1 VAR_041626 Q96Q15:p.Asn151Tyr SP substitution exon 1 VAR_041627 Q96Q15:p.Asp160Asn SP substitution exon 1 VAR_041628 Q96Q15:p.Ala167Val SP substitution exon 1 VAR_041629 Q96Q15:p.Asp320Gly SP substitution exon 1 VAR_041630 Q96Q15:p.Gly465Ser SP substitution exon 1 VAR_041631 Q96Q15:p.His546Arg SP substitution exon 1 VAR_041632 Q96Q15:p.Ala588Ser SP substitution exon 1 VAR_041633 Q96Q15:p.Ile612Lys SP substitution exon 1 VAR_041634 Q96Q15:p.Ser753Cys SP substitution exon 1 VAR_041635 Q96Q15:p.Ser809Cys SP substitution exon 1 VAR_041636 Q96Q15:p.Arg812Cys SP substitution exon 1 VAR_041637 Q96Q15:p.Val829Ile SP substitution exon 1 VAR_041638 Q96Q15:p.Asn832Asp SP substitution exon 1 VAR_041639 Q96Q15:p.Ala952Gly SP substitution exon 1 VAR_041640 Q96Q15:p.Asn969Ser SP substitution exon 1 VAR_041641 Q96Q15:p.Phe1016Leu SP substitution exon 1 VAR_041642 Q96Q15:p.Arg1029Gln SP substitution exon 1 VAR_041643 Q96Q15:p.Thr1072Ser SP substitution exon 1 VAR_041644 Q96Q15:p.Asn1103His SP substitution exon 1 VAR_041645 Q96Q15:p.Pro1275Arg SP substitution exon 1 VAR_041646 Q96Q15:p.Gln1292Pro SP substitution exon 1 VAR_041647 Q96Q15:p.Ile1332Val SP substitution exon 1 VAR_041648 Q96Q15:p.Ser1358Pro SP substitution exon 1 VAR_041649 Q96Q15:p.Arg1418Thr SP substitution exon 1 VAR_041650 Q96Q15:p.Ser2171Cys SP substitution exon 1 VAR_041651 Q96Q15:p.Gly2258Ser SP substitution exon 1 VAR_041652 Q96Q15:p.Met2345Lys SP substitution exon 1 VAR_041658 Q9Y4A5:p.Arg893Cys SP substitution exon 1 VAR_041659 Q9Y4A5:p.Ser1070Gly SP substitution exon 1 VAR_041660 Q9Y4A5:p.Arg1669His SP substitution exon 1 VAR_041661 Q9Y4A5:p.Arg1724His SP substitution exon 1 VAR_041662 Q9Y4A5:p.Ala1925Val SP substitution exon 1 VAR_041663 Q9Y4A5:p.Pro1932Leu SP substitution exon 1 VAR_041664 Q9Y4A5:p.Arg1947Leu SP substitution exon 1 VAR_041665 Q9Y4A5:p.Trp2139Gly SP substitution exon 1 VAR_041666 Q9Y4A5:p.Arg2302Trp SP substitution exon 1 VAR_041667 Q9Y4A5:p.Ser2433Gly SP substitution exon 1 VAR_041668 Q9Y4A5:p.Pro2690Leu SP substitution exon 1 VAR_041669 Q9Y4A5:p.Glu2750Asp SP substitution exon 1 VAR_041670 Q9Y4A5:p.Lys2801Glu SP substitution exon 1 VAR_041671 Q9Y4A5:p.Thr2931Met SP substitution exon 1 VAR_041672 P51451:p.Thr48Ile SP substitution exon 1 VAR_041673 P51451:p.Ala71Thr SP substitution exon 1 VAR_041674 P51813:p.Ser284Leu SP substitution exon 1 VAR_041675 P51813:p.Arg670Trp SP substitution exon 1 VAR_041676 Q06187:p.Arg82Lys SP substitution exon 1 VAR_041677 Q06187:p.Pro190Lys SP substitution exon 1 VAR_041678 P41240:p.Pro45Leu SP substitution exon 1 VAR_041679 P42679:p.Ala354Thr SP substitution exon 1 VAR_041680 P42679:p.Ala496Thr SP substitution exon 1 VAR_041681 P42679:p.Arg503Gln SP substitution exon 1 VAR_041682 Q05397:p.His292Pro SP substitution exon 1 VAR_041683 Q05397:p.His292Gln SP substitution exon 1 VAR_041684 Q05397:p.Val793Ala SP substitution exon 1 VAR_041685 Q05397:p.Asp1030Glu SP substitution exon 1 VAR_041686 Q05397:p.Lys1044Glu SP substitution exon 1 VAR_041687 Q14289:p.Gln359Glu SP substitution exon 1 VAR_041688 Q14289:p.Arg698His SP substitution exon 1 VAR_041689 Q14289:p.Leu808Pro SP substitution exon 1 VAR_041690 Q14289:p.Glu970Lys SP substitution exon 1 VAR_041691 P16591:p.Val128Phe SP substitution exon 1 VAR_041692 P16591:p.Glu404Gln SP substitution exon 1 VAR_041693 P16591:p.Met412Val SP substitution exon 1 VAR_041694 P16591:p.Ala443Pro SP substitution exon 1 VAR_041695 P16591:p.Trp460Cys SP substitution exon 1 VAR_041697 P07332:p.Arg85Cys SP substitution exon 1 VAR_041698 P07332:p.Arg246Gln SP substitution exon 1 VAR_041699 P07332:p.Met323Val SP substitution exon 1 VAR_041700 P09769:p.Thr110Ile SP substitution exon 1 VAR_041701 P09769:p.Ser130Arg SP substitution exon 1 VAR_041702 P42685:p.Ile100Val SP substitution exon 1 VAR_041703 P42685:p.Ser133Leu SP substitution exon 1 VAR_041704 P06241:p.Val243Leu SP substitution exon 1 VAR_041705 P06241:p.Gly410Arg SP substitution exon 1 VAR_041706 P06241:p.Asp506Glu SP substitution exon 1 VAR_041707 P08631:p.Ala44Thr SP substitution exon 1 VAR_041708 P08631:p.Met105Leu SP substitution exon 1 VAR_041709 P08631:p.Asp399Gly SP substitution exon 1 VAR_041710 Q08881:p.Arg19Lys SP substitution exon 1 VAR_041711 Q08881:p.Pro23Leu SP substitution exon 1 VAR_041712 Q08881:p.Arg451Gln SP substitution exon 1 VAR_041713 Q08881:p.Arg581Trp SP substitution exon 1 VAR_041714 Q08881:p.Val587Ile SP substitution exon 1 VAR_041715 P23458:p.Asn973Lys SP substitution exon 1 VAR_041716 O60674:p.Gly127Asp SP substitution exon 1 VAR_041717 O60674:p.Lys191Gln SP substitution exon 1 VAR_041718 O60674:p.Lys346Arg SP substitution exon 1 VAR_041719 O60674:p.Ala377Glu SP substitution exon 1 VAR_041720 O60674:p.Leu393Val SP substitution exon 1 VAR_041721 O60674:p.Arg1063His SP substitution exon 1 VAR_041722 P52333:p.Pro12Leu SP substitution exon 1 VAR_041723 P52333:p.Arg40His SP substitution exon 1 VAR_041724 P52333:p.Leu521Val SP substitution exon 1 VAR_041725 P52333:p.Leu527Pro SP substitution exon 1 VAR_041726 P52333:p.Ile688Phe SP substitution exon 1 VAR_041727 Q8IWU2:p.Asp484His SP substitution exon 1 VAR_041728 Q8IWU2:p.Val595Ile SP substitution exon 1 VAR_041729 Q8IWU2:p.Val624Met SP substitution exon 1 VAR_041730 Q8IWU2:p.Ile693Thr SP substitution exon 1 VAR_041731 Q8IWU2:p.Val849Phe SP substitution exon 1 VAR_041732 Q8IWU2:p.Ala862Thr SP substitution exon 1 VAR_041733 Q8IWU2:p.Ser916Arg SP substitution exon 1 VAR_041734 Q8IWU2:p.Asp1220Asn SP substitution exon 1 VAR_041735 Q8IWU2:p.Ala1341Gly SP substitution exon 1 VAR_041736 Q8IWU2:p.Ser1401Asn SP substitution exon 1 VAR_041737 P07948:p.Asp385Tyr SP substitution exon 1 VAR_041738 P08581:p.Arg143Gln SP substitution exon 1 VAR_041739 P08581:p.Ser156Leu SP substitution exon 1 VAR_041740 P08581:p.Glu168Asp SP substitution exon 1 VAR_041741 Q12866:p.Val185Met SP substitution exon 1 VAR_041742 Q12866:p.Glu289Lys SP substitution exon 1 VAR_041743 Q12866:p.Ala446Gly SP substitution exon 1 VAR_041744 Q12866:p.Val452Leu SP substitution exon 1 VAR_041745 Q12866:p.Gln662Glu SP substitution exon 1 VAR_041746 Q12866:p.Ala708Ser SP substitution exon 1 VAR_041747 Q12866:p.Glu823Gln SP substitution exon 1 VAR_041748 O15146:p.Ala27Gly SP substitution exon 1 VAR_041749 O15146:p.Thr100Met SP substitution exon 1 VAR_041750 O15146:p.Gly107Glu SP substitution exon 1 VAR_041751 O15146:p.Ser159Gly SP substitution exon 1 VAR_041752 O15146:p.Asn222Ser SP substitution exon 1 VAR_041753 O15146:p.Leu629Phe SP substitution exon 1 VAR_041754 O15146:p.Val644Ala SP substitution exon 1 VAR_041755 O15146:p.Asn664Ser SP substitution exon 1 VAR_041756 O15146:p.Pro696Leu SP substitution exon 1 VAR_041757 O15146:p.Glu782Asp SP substitution exon 1 VAR_041758 O15146:p.Asn819Ser SP substitution exon 1 VAR_041759 O15146:p.Arg858His SP substitution exon 1 VAR_041760 Q13882:p.Leu16Phe SP substitution exon 1 VAR_041761 Q13882:p.Ala436Thr SP substitution exon 1 VAR_041762 P07949:p.Arg163Gln SP substitution exon 1 VAR_041763 P07949:p.Thr278Asn SP substitution exon 1 VAR_041764 P07949:p.Val292Met SP substitution exon 1 VAR_041765 P07949:p.Arg749Thr SP substitution exon 1 VAR_041766 P07949:p.Tyr826Ser SP substitution exon 1 VAR_041767 P07949:p.Phe1112Tyr SP substitution exon 1 VAR_041768 Q04912:p.Arg75Ser SP substitution exon 1 VAR_041769 Q04912:p.Pro95Thr SP substitution exon 1 VAR_041770 Q04912:p.Arg185Cys SP substitution exon 1 VAR_041771 Q04912:p.Gly356Asp SP substitution exon 1 VAR_041772 Q04912:p.Gly465Asp SP substitution exon 1 VAR_041773 Q04912:p.Arg504Cys SP substitution exon 1 VAR_041774 Q04912:p.Gln523Arg SP substitution exon 1 VAR_041775 Q04912:p.Gln613Pro SP substitution exon 1 VAR_041776 Q04912:p.Val900Met SP substitution exon 1 VAR_041777 Q04912:p.Arg1304Gly SP substitution exon 1 VAR_041778 Q04912:p.Tyr1360Cys SP substitution exon 1 VAR_041779 Q01973:p.Gly144Glu SP substitution exon 1 VAR_041780 Q01973:p.Phe150Leu SP substitution exon 1 VAR_041781 Q01973:p.Ile301Val SP substitution exon 1 VAR_041782 Q01973:p.Thr518Met SP substitution exon 1 VAR_041783 Q01973:p.Arg567Ile SP substitution exon 1 VAR_041784 Q01973:p.Gly624Arg SP substitution exon 1 VAR_041785 Q01973:p.Tyr646Cys SP substitution exon 1 VAR_041786 Q01973:p.Ser776Asn SP substitution exon 1 VAR_041787 Q01974:p.Arg244Gln SP substitution exon 1 VAR_041788 Q01974:p.His349Asp SP substitution exon 1 VAR_041789 Q01974:p.Gly490Ala SP substitution exon 1 VAR_041790 Q01974:p.Arg530Gln SP substitution exon 1 VAR_041791 Q01974:p.Val542Met SP substitution exon 1 VAR_041792 Q01974:p.Pro548Ser SP substitution exon 1 VAR_041793 Q01974:p.Ser557Leu SP substitution exon 1 VAR_041794 Q01974:p.Asp644Asn SP substitution exon 1 VAR_041795 Q01974:p.Asp672Asn SP substitution exon 1 VAR_041796 Q01974:p.Gly695Arg SP substitution exon 1 VAR_041797 Q01974:p.Arg738Cys SP substitution exon 1 VAR_041798 Q01974:p.Ser762Leu SP substitution exon 1 VAR_041799 Q01974:p.Asp935Glu SP substitution exon 1 VAR_041803 Q86YV5:p.Leu122Ile SP substitution exon 1 VAR_041804 Q86YV5:p.Arg137Gly SP substitution exon 1 VAR_041805 Q86YV5:p.Val139Ile SP substitution exon 1 VAR_041806 Q86YV5:p.Arg402Gln SP substitution exon 1 VAR_041807 Q86YV5:p.Pro567Leu SP substitution exon 1 VAR_041808 Q86YV5:p.Ser576Cys SP substitution exon 1 VAR_041809 Q86YV5:p.Pro593Ala SP substitution exon 1 VAR_041810 Q86YV5:p.Pro660Thr SP substitution exon 1 VAR_041811 Q86YV5:p.Pro812Leu SP substitution exon 1 VAR_041812 Q86YV5:p.His849Arg SP substitution exon 1 VAR_041813 Q86YV5:p.Ser1001Leu SP substitution exon 1 VAR_041814 Q86YV5:p.Val1039Met SP substitution exon 1 VAR_041815 Q86YV5:p.Ala1111Thr SP substitution exon 1 VAR_041816 Q86YV5:p.Arg1311His SP substitution exon 1 VAR_041817 Q9H792:p.Gly213Arg SP substitution exon 1 VAR_041818 Q9H792:p.Val240Ile SP substitution exon 1 VAR_041819 Q9H792:p.Ser440Pro SP substitution exon 1 VAR_041820 Q9H792:p.His611Gln SP substitution exon 1 VAR_041821 Q9H792:p.Ser792Ile SP substitution exon 1 VAR_041822 Q9H792:p.Asp836Glu SP substitution exon 1 VAR_041823 Q9H792:p.Ser1035Phe SP substitution exon 1 VAR_041824 Q9H792:p.Arg1071Lys SP substitution exon 1 VAR_041825 Q9H792:p.Thr1077Pro SP substitution exon 1 VAR_041830 P12931:p.Ala237Thr SP substitution exon 1 VAR_041831 Q9H3Y6:p.Arg73Cys SP substitution exon 1 VAR_041832 Q9H3Y6:p.Gly75Arg SP substitution exon 1 VAR_041833 Q9H3Y6:p.Ile88Val SP substitution exon 1 VAR_041834 Q9H3Y6:p.Val301Leu SP substitution exon 1 VAR_041835 Q9H3Y6:p.Asp377Glu SP substitution exon 1 VAR_041836 Q9H3Y6:p.Ala397Val SP substitution exon 1 VAR_041837 Q9H3Y6:p.Pro452Leu SP substitution exon 1 VAR_041838 Q9H3Y6:p.Ala453Thr SP substitution exon 1 VAR_041839 Q9H3Y6:p.Val457Leu SP substitution exon 1 VAR_041840 Q9H3Y6:p.Ser465Thr SP substitution exon 1 VAR_041841 Q6J9G0:p.Arg210Trp SP substitution exon 1 VAR_041842 Q6J9G0:p.Leu237Ser SP substitution exon 1 VAR_041843 Q6J9G0:p.Arg379His SP substitution exon 1 VAR_041844 Q6J9G0:p.Val395Ile SP substitution exon 1 VAR_041845 Q6J9G0:p.Val400Leu SP substitution exon 1 VAR_041846 P43403:p.Arg175Leu SP substitution exon 1 VAR_041847 P43403:p.Pro191Leu SP substitution exon 1 VAR_041850 P42680:p.Arg44Gln SP substitution exon 1 VAR_041851 P42680:p.Arg563Lys SP substitution exon 1 VAR_041852 P35590:p.Val448Met SP substitution exon 1 VAR_041855 Q02763:p.Ile148Thr SP substitution exon 1 VAR_041856 Q02763:p.Ala226Val SP substitution exon 1 VAR_041857 Q02763:p.Val600Leu SP substitution exon 1 VAR_041858 Q02763:p.Leu634Phe SP substitution exon 1 VAR_041859 Q02763:p.Val676Ile SP substitution exon 1 VAR_041860 Q02763:p.Ala724Thr SP substitution exon 1 VAR_041863 Q13470:p.Val278Ile SP substitution exon 1 VAR_041864 Q13470:p.Arg339Lys SP substitution exon 1 VAR_041865 Q13470:p.Thr514Lys SP substitution exon 1 VAR_041866 Q13470:p.Arg539Cys SP substitution exon 1 VAR_041867 Q13470:p.Ser546Cys SP substitution exon 1 VAR_041868 Q13470:p.Val598Met SP substitution exon 1 VAR_041869 P42681:p.Arg63Cys SP substitution exon 1 VAR_041870 P29597:p.Val386Met SP substitution exon 1 VAR_041871 P29597:p.Arg703Trp SP substitution exon 1 VAR_041872 P29597:p.His732Arg SP substitution exon 1 VAR_041873 P29597:p.Ala928Val SP substitution exon 1 VAR_041876 Q06418:p.Ala831Thr SP substitution exon 1 VAR_041877 P30530:p.Arg499Cys SP substitution exon 1 VAR_041878 P30530:p.Ser515Gly SP substitution exon 1 VAR_041879 P07947:p.Ile198Val SP substitution exon 1 VAR_041880 P07947:p.Lys282Arg SP substitution exon 1 VAR_041881 Q96S44:p.Arg123Gln SP substitution exon 1 VAR_041882 Q96S44:p.Thr145Ala SP substitution exon 1 VAR_041883 P11274:p.Ser400Pro SP substitution exon 1 VAR_041884 P11274:p.Ile413Met SP substitution exon 1 VAR_041885 P11274:p.Asp752Glu SP substitution exon 1 VAR_041898 O60229:p.Ser196Leu SP substitution exon 1 VAR_041899 O75962:p.Ser291Thr SP substitution exon 1 VAR_041900 O75962:p.Thr1644Met SP substitution exon 1 VAR_041901 O75962:p.His1690Arg SP substitution exon 1 VAR_041902 O75962:p.Val1978Met SP substitution exon 1 VAR_041903 O75962:p.Thr2242Met SP substitution exon 1 VAR_041913 Q15059:p.Thr36Asn SP substitution exon 1 VAR_041914 Q15059:p.Ala161Thr SP substitution exon 1 VAR_041915 Q15059:p.Ala172Val SP substitution exon 1 VAR_041916 Q15059:p.Lys435Gln SP substitution exon 1 VAR_041917 Q15059:p.Arg441His SP substitution exon 1 VAR_041918 Q15059:p.Ser447Pro SP substitution exon 1 VAR_041919 O60885:p.Pro37Ser SP substitution exon 1 VAR_041920 O60885:p.Ala371Gly SP substitution exon 1 VAR_041921 O60885:p.Ser563Asn SP substitution exon 1 VAR_041922 O60885:p.Thr598Ser SP substitution exon 1 VAR_041923 O60885:p.Arg669His SP substitution exon 1 VAR_041924 Q58F21:p.Ser2Phe SP substitution exon 1 VAR_041925 Q58F21:p.Arg6Gln SP substitution exon 1 VAR_041926 Q58F21:p.Ala89Val SP substitution exon 1 VAR_041927 Q58F21:p.His288Tyr SP substitution exon 1 VAR_041928 Q58F21:p.Glu357Lys SP substitution exon 1 VAR_041929 Q58F21:p.Pro542Ala SP substitution exon 1 VAR_041930 P21675:p.Ala297Gly SP substitution exon 1 VAR_041931 P21675:p.Gly453Asp SP substitution exon 1 VAR_041932 P21675:p.Glu651Lys SP substitution exon 1 VAR_041933 P21675:p.Met691Ile SP substitution exon 1 VAR_041934 Q8IZX4:p.Gly47Ala SP substitution exon 1 VAR_041935 Q8IZX4:p.Gln171Glu SP substitution exon 1 VAR_041936 Q8IZX4:p.Gly256Ala SP substitution exon 1 VAR_041937 Q8IZX4:p.Met371Val SP substitution exon 1 VAR_041938 Q8IZX4:p.Ile532Asn SP substitution exon 1 VAR_041939 Q8IZX4:p.Pro637Ser SP substitution exon 1 VAR_041940 Q8IZX4:p.Leu750Phe SP substitution exon 1 VAR_041941 Q8IZX4:p.Leu762Ile SP substitution exon 1 VAR_041942 Q8IZX4:p.Glu794Asp SP substitution exon 1 VAR_041943 Q8IZX4:p.Arg845Gln SP substitution exon 1 VAR_041944 Q8IZX4:p.Arg1016Cys SP substitution exon 1 VAR_041945 Q8IZX4:p.Lys1038Asn SP substitution exon 1 VAR_041946 Q8IZX4:p.Thr1169Ile SP substitution exon 1 VAR_041947 Q8IZX4:p.Val1312Leu SP substitution exon 1 VAR_041948 Q8IZX4:p.Arg1356Cys SP substitution exon 1 VAR_041949 Q8IZX4:p.Pro1389Ser SP substitution exon 1 VAR_041950 Q8IZX4:p.Ile1411Val SP substitution exon 1 VAR_041951 Q8IZX4:p.Ala1540Thr SP substitution exon 1 VAR_041952 Q8IZX4:p.His1549Tyr SP substitution exon 1 VAR_041953 Q8IZX4:p.Lys1731Asn SP substitution exon 1 VAR_041954 Q8IZX4:p.Pro1810Leu SP substitution exon 1 VAR_041955 Q8IZX4:p.His1824Gln SP substitution exon 1 VAR_041956 O14936:p.Gly96Val SP substitution exon 1 VAR_041957 Q8IZL9:p.Ser106Asn SP substitution exon 1 VAR_041958 P21127:p.Arg57Cys SP substitution exon 1 VAR_041959 P21127:p.Arg201Trp SP substitution exon 1 VAR_041960 P21127:p.Ser414Leu SP substitution exon 1 VAR_041965 Q14004:p.Thr494Ala SP substitution exon 1 VAR_041966 Q14004:p.Thr670Arg SP substitution exon 1 VAR_041967 Q14004:p.Val1170Met SP substitution exon 1 VAR_041968 Q9NYV4:p.Pro530Ala SP substitution exon 1 VAR_041969 Q9NYV4:p.Arg912His SP substitution exon 1 VAR_041970 Q9NYV4:p.Leu1189Gln SP substitution exon 1 VAR_041972 P24941:p.Pro45Leu SP substitution exon 1 VAR_041973 Q00526:p.Ser106Asn SP substitution exon 1 VAR_041974 Q00526:p.Ile124Thr SP substitution exon 1 VAR_041975 Q00526:p.Arg214His SP substitution exon 1 VAR_041976 P11802:p.Arg122His SP substitution exon 1 VAR_041977 Q00535:p.Glu225Asp SP substitution exon 1 VAR_041978 Q00534:p.Asp110Asn SP substitution exon 1 VAR_041979 Q00534:p.Pro199Leu SP substitution exon 1 VAR_041980 P49336:p.Asp189Asn SP substitution exon 1 VAR_041982 P50750:p.Phe59Leu SP substitution exon 1 VAR_041983 Q15131:p.Pro96Leu SP substitution exon 1 VAR_041984 Q15131:p.Asn168Ser SP substitution exon 1 VAR_041987 Q92772:p.Leu98Ile SP substitution exon 1 VAR_041988 Q92772:p.Arg149Gln SP substitution exon 1 VAR_041989 Q92772:p.Met197Thr SP substitution exon 1 VAR_041990 Q92772:p.Ala411Val SP substitution exon 1 VAR_041991 Q8IVW4:p.Met394Thr SP substitution exon 1 VAR_041992 Q5MAI5:p.Ser38Pro SP substitution exon 1 VAR_041993 Q5MAI5:p.Arg53His SP substitution exon 1 VAR_041994 Q5MAI5:p.Phe228Cys SP substitution exon 1 VAR_041995 Q5MAI5:p.Ser288Tyr SP substitution exon 1 VAR_041996 Q5MAI5:p.Arg307Cys SP substitution exon 1 VAR_041997 O76039:p.Ala374Thr SP substitution exon 1 VAR_041998 O76039:p.Pro574Gln SP substitution exon 1 VAR_041999 O76039:p.Thr734Ala SP substitution exon 1 VAR_042001 Q9UPZ9:p.Phe115Tyr SP substitution exon 1 VAR_042002 Q9UPZ9:p.Val320Ile SP substitution exon 1 VAR_042003 Q9UPZ9:p.Thr471Lys SP substitution exon 1 VAR_042004 Q9UPZ9:p.Arg476Gln SP substitution exon 1 VAR_042005 Q9UPZ9:p.Ala615Thr SP substitution exon 1 VAR_042006 P20794:p.Ile189Val SP substitution exon 1 VAR_042007 P20794:p.Arg272Pro SP substitution exon 1 VAR_042008 P20794:p.Asn384Ser SP substitution exon 1 VAR_042009 P20794:p.Pro520Ser SP substitution exon 1 VAR_042010 P20794:p.Phe550Leu SP substitution exon 1 VAR_042011 Q9UQ07:p.Arg38His SP substitution exon 1 VAR_042012 Q9UQ07:p.Asp86Asn SP substitution exon 1 VAR_042013 Q9UQ07:p.Lys230Arg SP substitution exon 1 VAR_042016 Q96Q40:p.Arg64Gly SP substitution exon 1 VAR_042017 Q96Q40:p.Lys93Glu SP substitution exon 1 VAR_042018 Q96Q40:p.Gln127Arg SP substitution exon 1 VAR_042021 P10721:p.Val532Ile SP substitution exon 1 VAR_042022 P10721:p.Met541Leu SP substitution exon 1 VAR_042023 P10721:p.Cys691Ser SP substitution exon 1 VAR_042024 P10721:p.Ser715Asn SP substitution exon 1 VAR_042025 P10721:p.Asp737Asn SP substitution exon 1 VAR_042026 P10721:p.Arg804Trp SP substitution exon 1 VAR_042027 P09619:p.Glu282Lys SP substitution exon 1 VAR_042028 P09619:p.Glu485Lys SP substitution exon 1 VAR_042029 P09619:p.Tyr589His SP substitution exon 1 VAR_042030 P09619:p.Asn718Tyr SP substitution exon 1 VAR_042031 P09619:p.Thr882Ile SP substitution exon 1 VAR_042032 P16234:p.Gly79Asp SP substitution exon 1 VAR_042033 P16234:p.Gly426Asp SP substitution exon 1 VAR_042038 P07333:p.Val32Gly SP substitution exon 1 VAR_042039 P07333:p.His362Arg SP substitution exon 1 VAR_042040 P07333:p.Gly413Ser SP substitution exon 1 VAR_042041 P07333:p.Leu536Val SP substitution exon 1 VAR_042042 P07333:p.Pro693His SP substitution exon 1 VAR_042043 P07333:p.Glu920Asp SP substitution exon 1 VAR_042044 P07333:p.Arg921Gln SP substitution exon 1 VAR_042045 P17948:p.Lys60Thr SP substitution exon 1 VAR_042046 P17948:p.Glu144Lys SP substitution exon 1 VAR_042047 P17948:p.Arg281Gln SP substitution exon 1 VAR_042048 P17948:p.Leu422Ile SP substitution exon 1 VAR_042049 P17948:p.Arg781Gln SP substitution exon 1 VAR_042050 P17948:p.Met938Val SP substitution exon 1 VAR_042051 P17948:p.Glu982Ala SP substitution exon 1 VAR_042052 P17948:p.Leu1061Val SP substitution exon 1 VAR_042053 P35968:p.Gln2Arg SP substitution exon 1 VAR_042054 P35968:p.Val136Met SP substitution exon 1 VAR_042055 P35968:p.Ala248Gly SP substitution exon 1 VAR_042056 P35968:p.Leu462Val SP substitution exon 1 VAR_042057 P35968:p.Cys482Arg SP substitution exon 1 VAR_042058 P35968:p.Gly539Arg SP substitution exon 1 VAR_042059 P35968:p.Thr689Met SP substitution exon 1 VAR_042060 P35968:p.Asp814Asn SP substitution exon 1 VAR_042061 P35968:p.Ala1065Thr SP substitution exon 1 VAR_042062 P35916:p.Asn149Asp SP substitution exon 1 VAR_042063 P35916:p.Arg378Cys SP substitution exon 1 VAR_042064 P35916:p.His868Tyr SP substitution exon 1 VAR_042065 P35916:p.Thr1010Ile SP substitution exon 1 VAR_042066 P35916:p.Arg1031Gln SP substitution exon 1 VAR_042067 P35916:p.Asp1049Asn SP substitution exon 1 VAR_042068 P35916:p.Arg1075Gln SP substitution exon 1 VAR_042069 P36888:p.Val158Ala SP substitution exon 1 VAR_042070 P36888:p.Asp324Asn SP substitution exon 1 VAR_042071 P36888:p.Asp358Val SP substitution exon 1 VAR_042072 P36888:p.Val557Ile SP substitution exon 1 VAR_042073 P48729:p.Asp297His SP substitution exon 1 VAR_042074 Q8N752:p.Ser5Gly SP substitution exon 1 VAR_042075 Q8N752:p.Arg21Trp SP substitution exon 1 VAR_042076 Q8N752:p.Asp42Glu SP substitution exon 1 VAR_042077 Q8N752:p.Glu177Lys SP substitution exon 1 VAR_042078 Q8N752:p.Pro220Leu SP substitution exon 1 VAR_042079 Q8N752:p.Lys230Asn SP substitution exon 1 VAR_042080 Q8N752:p.Ala257Thr SP substitution exon 1 VAR_042081 P48730:p.Pro401Ala SP substitution exon 1 VAR_042082 P49674:p.Arg256Leu SP substitution exon 1 VAR_042083 P49674:p.His413Arg SP substitution exon 1 VAR_042084 Q9HCP0:p.Arg206Lys SP substitution exon 1 VAR_042085 Q9HCP0:p.Val329Ile SP substitution exon 1 VAR_042086 P78368:p.Phe189Leu SP substitution exon 1 VAR_042087 P78368:p.Glu194Gly SP substitution exon 1 VAR_042088 P78368:p.Ile196Thr SP substitution exon 1 VAR_042089 P78368:p.Tyr206Cys SP substitution exon 1 VAR_042090 P78368:p.Tyr206His SP substitution exon 1 VAR_042091 P78368:p.Arg207Ser SP substitution exon 1 VAR_042092 P78368:p.Glu208Gln SP substitution exon 1 VAR_042093 P78368:p.Arg217Cys SP substitution exon 1 VAR_042094 P78368:p.Thr223Met SP substitution exon 1 VAR_042095 P00533:p.Leu1034Arg SP substitution exon 1 VAR_042097 P04626:p.Leu768Ser SP substitution exon 1 VAR_042098 P04626:p.Gly776Ser SP substitution exon 1 VAR_042099 P04626:p.Asn857Ser SP substitution exon 1 VAR_042101 P21860:p.Ser20Tyr SP substitution exon 1 VAR_042102 P21860:p.Pro30Leu SP substitution exon 1 VAR_042103 P21860:p.Val104Met SP substitution exon 1 VAR_042104 P21860:p.Thr204Ile SP substitution exon 1 VAR_042105 P21860:p.Arg683Trp SP substitution exon 1 VAR_042113 Q15303:p.Thr140Ile SP substitution exon 1 VAR_042114 Q15303:p.Ser303Tyr SP substitution exon 1 VAR_042115 P21709:p.Arg351Cys SP substitution exon 1 VAR_042116 P21709:p.Arg575Gln SP substitution exon 1 VAR_042117 P21709:p.Ala585Thr SP substitution exon 1 VAR_042118 P21709:p.Pro697Leu SP substitution exon 1 VAR_042119 P21709:p.Glu703Lys SP substitution exon 1 VAR_042120 P21709:p.Ser807Arg SP substitution exon 1 VAR_042121 P29317:p.Gly391Arg SP substitution exon 1 VAR_042122 P29317:p.Thr511Met SP substitution exon 1 VAR_042123 P29317:p.Arg568His SP substitution exon 1 VAR_042124 P29317:p.Gly777Ser SP substitution exon 1 VAR_042125 P29317:p.Arg876His SP substitution exon 1 VAR_042126 P29320:p.Ser229Tyr SP substitution exon 1 VAR_042127 P29320:p.Ser449Phe SP substitution exon 1 VAR_042128 P29320:p.Gly518Leu SP substitution exon 1 VAR_042129 P29320:p.Ile564Val SP substitution exon 1 VAR_042130 P29320:p.Cys568Ser SP substitution exon 1 VAR_042131 P29320:p.Leu590Pro SP substitution exon 1 VAR_042132 P29320:p.Gly766Glu SP substitution exon 1 VAR_042133 P29320:p.Ala777Gly SP substitution exon 1 VAR_042134 P29320:p.Trp924Arg SP substitution exon 1 VAR_042135 P54764:p.Arg269Gln SP substitution exon 1 VAR_042136 P54764:p.Gly370Glu SP substitution exon 1 VAR_042137 P54764:p.Ser399Phe SP substitution exon 1 VAR_042138 P54756:p.Asn81Thr SP substitution exon 1 VAR_042139 P54756:p.Ser235Ala SP substitution exon 1 VAR_042140 P54756:p.Glu330Gln SP substitution exon 1 VAR_042141 P54756:p.Arg417Gln SP substitution exon 1 VAR_042142 P54756:p.Glu503Lys SP substitution exon 1 VAR_042143 P54756:p.Gly582Glu SP substitution exon 1 VAR_042144 P54756:p.Ala672Thr SP substitution exon 1 VAR_042145 P54756:p.Ser673Thr SP substitution exon 1 VAR_042146 P54756:p.Thr856Ile SP substitution exon 1 VAR_042147 P54756:p.His959Arg SP substitution exon 1 VAR_042148 P54756:p.Asn1032Ser SP substitution exon 1 VAR_042149 Q9UF33:p.Phe703Ser SP substitution exon 1 VAR_042150 Q15375:p.Glu170Lys SP substitution exon 1 VAR_042151 Q15375:p.Gly232Arg SP substitution exon 1 VAR_042152 Q15375:p.Pro903Ser SP substitution exon 1 VAR_042153 P29322:p.Gly45Ser SP substitution exon 1 VAR_042154 P29322:p.Val60Leu SP substitution exon 1 VAR_042155 P29322:p.Asn123Lys SP substitution exon 1 VAR_042156 P29322:p.Arg179Cys SP substitution exon 1 VAR_042157 P29322:p.Arg198Leu SP substitution exon 1 VAR_042158 P29322:p.Pro860Leu SP substitution exon 1 VAR_042159 Q5JZY3:p.Arg150His SP substitution exon 1 VAR_042160 Q5JZY3:p.Thr220Lys SP substitution exon 1 VAR_042161 Q5JZY3:p.Phe281Ile SP substitution exon 1 VAR_042162 Q5JZY3:p.Leu630Pro SP substitution exon 1 VAR_042163 Q5JZY3:p.His775Arg SP substitution exon 1 VAR_042164 Q5JZY3:p.Ala956Thr SP substitution exon 1 VAR_042165 P54762:p.Met18Val SP substitution exon 1 VAR_042166 P54762:p.Thr387Met SP substitution exon 1 VAR_042172 P29323:p.Cys289Gly SP substitution exon 1 VAR_042173 P29323:p.Ile361Val SP substitution exon 1 VAR_042174 P29323:p.Asp678Asn SP substitution exon 1 VAR_042175 P29323:p.Arg844Trp SP substitution exon 1 VAR_042176 P54753:p.Arg168Leu SP substitution exon 1 VAR_042177 P54753:p.Arg440Cys SP substitution exon 1 VAR_042178 P54753:p.Ile579Val SP substitution exon 1 VAR_042179 P54753:p.Ile601Leu SP substitution exon 1 VAR_042180 P54753:p.Arg724Trp SP substitution exon 1 VAR_042181 P54760:p.Pro67Leu SP substitution exon 1 VAR_042182 P54760:p.Val113Ile SP substitution exon 1 VAR_042183 P54760:p.Pro346Leu SP substitution exon 1 VAR_042184 P54760:p.Ala371Val SP substitution exon 1 VAR_042185 P54760:p.Asp576Glu SP substitution exon 1 VAR_042186 P54760:p.Arg678His SP substitution exon 1 VAR_042187 P54760:p.Ala882Thr SP substitution exon 1 VAR_042188 P54760:p.Arg889Trp SP substitution exon 1 VAR_042189 P54760:p.Glu890Asp SP substitution exon 1 VAR_042190 O15197:p.Ser170Thr SP substitution exon 1 VAR_042191 O15197:p.Ala221Val SP substitution exon 1 VAR_042192 O15197:p.Pro282His SP substitution exon 1 VAR_042193 O15197:p.Arg309Gln SP substitution exon 1 VAR_042194 O15197:p.Ser332Leu SP substitution exon 1 VAR_042195 O15197:p.Ala662Val SP substitution exon 1 VAR_042201 P11362:p.Ser125Leu SP substitution exon 1 VAR_042202 P11362:p.Pro252Thr SP substitution exon 1 VAR_042203 P11362:p.Val664Leu SP substitution exon 1 VAR_042204 P21802:p.Ser57Leu SP substitution exon 1 VAR_042205 P21802:p.Gly272Val SP substitution exon 1 VAR_042206 P21802:p.Asp283Asn SP substitution exon 1 VAR_042207 P22607:p.Thr79Ser SP substitution exon 1 VAR_042208 P22607:p.Cys228Arg SP substitution exon 1 VAR_042209 P22607:p.Thr338Met SP substitution exon 1 VAR_042210 P22607:p.Asp646Asn SP substitution exon 1 VAR_042211 P22455:p.Pro136Leu SP substitution exon 1 VAR_042212 P22455:p.Thr179Ala SP substitution exon 1 VAR_042213 P22455:p.Asp516Asn SP substitution exon 1 VAR_042214 P16066:p.Ala182Val SP substitution exon 1 VAR_042215 P16066:p.Phe270Cys SP substitution exon 1 VAR_042216 P16066:p.Val755Met SP substitution exon 1 VAR_042219 P20594:p.Met232Ile SP substitution exon 1 VAR_042220 P20594:p.Val882Ile SP substitution exon 1 VAR_042221 P25092:p.Cys30Arg SP substitution exon 1 VAR_042222 P25092:p.Gly61Arg SP substitution exon 1 VAR_042223 P25092:p.Arg114Gln SP substitution exon 1 VAR_042224 P25092:p.Arg464Leu SP substitution exon 1 VAR_042225 P25092:p.Glu610Lys SP substitution exon 1 VAR_042226 P25092:p.Ile859Val SP substitution exon 1 VAR_042227 P25092:p.Gln1045Arg SP substitution exon 1 VAR_042228 P25092:p.Tyr1072Cys SP substitution exon 1 VAR_042229 Q02846:p.Ala328Val SP substitution exon 1 VAR_042230 Q02846:p.Gly431Asp SP substitution exon 1 VAR_042231 Q02846:p.Val507Met SP substitution exon 1 VAR_042232 Q02846:p.Ala693Glu SP substitution exon 1 VAR_042233 P51841:p.Ser40Cys SP substitution exon 1 VAR_042234 P51841:p.Ile160Asn SP substitution exon 1 VAR_042235 P51841:p.Arg230Trp SP substitution exon 1 VAR_042236 P51841:p.Arg305Gln SP substitution exon 1 VAR_042237 P51841:p.Gly434Arg SP substitution exon 1 VAR_042238 P51841:p.Gly568Asp SP substitution exon 1 VAR_042239 P51841:p.Val677Leu SP substitution exon 1 VAR_042240 P51841:p.Glu794Lys SP substitution exon 1 VAR_042241 P51841:p.Ala1010Val SP substitution exon 1 VAR_042242 P51841:p.Lys1052Arg SP substitution exon 1 VAR_042243 P51841:p.Glu1055Asp SP substitution exon 1 VAR_042244 Q9UJY1:p.Gly67Ser SP substitution exon 1 VAR_042245 Q9UJY1:p.Arg78Met SP substitution exon 1 VAR_042246 P53667:p.Gly190Ala SP substitution exon 1 VAR_042247 P53667:p.Ser247Asn SP substitution exon 1 VAR_042248 P53667:p.Arg422Gln SP substitution exon 1 VAR_042249 P53671:p.Asp45Asn SP substitution exon 1 VAR_042250 P53671:p.Arg213Cys SP substitution exon 1 VAR_042251 P53671:p.Pro296Arg SP substitution exon 1 VAR_042252 P53671:p.Arg418Cys SP substitution exon 1 VAR_042254 P31152:p.Val38Met SP substitution exon 1 VAR_042255 P31152:p.Arg371Pro SP substitution exon 1 VAR_042256 Q16659:p.Leu290Val SP substitution exon 1 VAR_042257 Q13164:p.Gly550Ala SP substitution exon 1 VAR_042258 P45983:p.Gly171Ser SP substitution exon 1 VAR_042259 P45983:p.Gly177Arg SP substitution exon 1 VAR_042260 P45984:p.Val13Met SP substitution exon 1 VAR_042261 P45984:p.Lys56Asn SP substitution exon 1 VAR_042262 P45984:p.Ala246Thr SP substitution exon 1 VAR_042263 P45984:p.Arg366Ile SP substitution exon 1 VAR_042264 Q15759:p.Ala221Val SP substitution exon 1 VAR_042265 P53778:p.Thr103Met SP substitution exon 1 VAR_042266 P53778:p.Asp230Asn SP substitution exon 1 VAR_042267 O15264:p.Ser41Leu SP substitution exon 1 VAR_042268 O15264:p.Ala282Val SP substitution exon 1 VAR_042269 O15264:p.Ala300Thr SP substitution exon 1 VAR_042270 Q16539:p.Ala51Val SP substitution exon 1 VAR_042273 Q9UBE8:p.Ala343Thr SP substitution exon 1 VAR_042274 P52701:p.Glu221Asp SP substitution exon 1 VAR_042275 P52701:p.Met492Val SP substitution exon 1 VAR_042276 Q5VST9:p.Gly804Ser SP substitution exon 1 VAR_042277 Q5VST9:p.Lys1027Arg SP substitution exon 1 VAR_042278 Q5VST9:p.Ala1086Ser SP substitution exon 1 VAR_042279 Q5VST9:p.Ala1090Thr SP substitution exon 1 VAR_042280 Q5VST9:p.Ser1091Thr SP substitution exon 1 VAR_042281 Q5VST9:p.Ala1101Pro SP substitution exon 1 VAR_042282 Q5VST9:p.Gly1121Arg SP substitution exon 1 VAR_042283 Q5VST9:p.Leu1133Val SP substitution exon 1 VAR_042284 Q5VST9:p.His1156Gln SP substitution exon 1 VAR_042285 Q5VST9:p.Gln1248His SP substitution exon 1 VAR_042286 Q5VST9:p.Ala1532Val SP substitution exon 1 VAR_042287 Q5VST9:p.Thr1566Met SP substitution exon 1 VAR_042288 Q5VST9:p.Ala1601Thr SP substitution exon 1 VAR_042289 Q5VST9:p.Ala3389Val SP substitution exon 1 VAR_042290 Q5VST9:p.Asp3426Glu SP substitution exon 1 VAR_042291 Q5VST9:p.Arg3834Gly SP substitution exon 1 VAR_042292 Q5VST9:p.Ala4823Ser SP substitution exon 1 VAR_042293 Q5VST9:p.Arg5598Gln SP substitution exon 1 VAR_042294 Q5VST9:p.Glu6473Gln SP substitution exon 1 VAR_042296 Q15119:p.Gly342Arg SP substitution exon 1 VAR_042297 Q15120:p.Glu219Ala SP substitution exon 1 VAR_042298 Q16654:p.Ala17Val SP substitution exon 1 VAR_042299 Q16654:p.Leu19Met SP substitution exon 1 VAR_042300 Q16654:p.Asp109Gly SP substitution exon 1 VAR_042301 P17252:p.Pro98Ser SP substitution exon 1 VAR_042304 P05771:p.Val144Met SP substitution exon 1 VAR_042305 P05771:p.Val496Met SP substitution exon 1 VAR_042306 P05771:p.Pro588His SP substitution exon 1 VAR_042307 Q02156:p.Ala333Val SP substitution exon 1 VAR_042308 Q02156:p.Pro389Arg SP substitution exon 1 VAR_042309 Q02156:p.Thr563Met SP substitution exon 1 VAR_042310 Q05513:p.Arg84His SP substitution exon 1 VAR_042312 P24723:p.Ala19Val SP substitution exon 1 VAR_042313 P24723:p.Lys65Arg SP substitution exon 1 VAR_042314 P24723:p.Arg149Gln SP substitution exon 1 VAR_042315 P24723:p.Arg359Gln SP substitution exon 1 VAR_042319 Q04759:p.Lys240Asn SP substitution exon 1 VAR_042320 Q04759:p.Asp306Val SP substitution exon 1 VAR_042321 Q04759:p.Asp354Asn SP substitution exon 1 VAR_042322 P41743:p.Pro118Leu SP substitution exon 1 VAR_042323 P41743:p.Arg130Cys SP substitution exon 1 VAR_042324 Q15139:p.Ser225Pro SP substitution exon 1 VAR_042325 Q15139:p.Lys478Gln SP substitution exon 1 VAR_042326 Q15139:p.Pro585Ser SP substitution exon 1 VAR_042327 Q15139:p.Arg677Met SP substitution exon 1 VAR_042328 Q15139:p.Pro679Leu SP substitution exon 1 VAR_042329 Q15139:p.His891Arg SP substitution exon 1 VAR_042330 Q9BZL6:p.Val324Met SP substitution exon 1 VAR_042331 Q9BZL6:p.Ala496Val SP substitution exon 1 VAR_042332 Q9BZL6:p.Ser604Gly SP substitution exon 1 VAR_042336 O94806:p.Val716Met SP substitution exon 1 VAR_042337 Q16512:p.Arg185Cys SP substitution exon 1 VAR_042338 Q16512:p.Ala197Glu SP substitution exon 1 VAR_042339 Q16512:p.Arg436Trp SP substitution exon 1 VAR_042340 Q16512:p.Arg520Gln SP substitution exon 1 VAR_042341 Q16512:p.Leu555Ile SP substitution exon 1 VAR_042342 Q16512:p.Arg635Gln SP substitution exon 1 VAR_042343 Q16512:p.Ile718Val SP substitution exon 1 VAR_042344 Q16512:p.Phe873Leu SP substitution exon 1 VAR_042345 Q16512:p.Ala921Val SP substitution exon 1 VAR_042346 Q6P5Z2:p.Ala180Glu SP substitution exon 1 VAR_042347 Q9BVS4:p.Ser96Cys SP substitution exon 1 VAR_042348 Q9BVS4:p.His144Arg SP substitution exon 1 VAR_042349 Q9BVS4:p.Arg155His SP substitution exon 1 VAR_042350 Q9BVS4:p.Val175Ile SP substitution exon 1 VAR_042351 Q9BVS4:p.Ile216Thr SP substitution exon 1 VAR_042352 Q9BVS4:p.Met244Val SP substitution exon 1 VAR_042353 Q9BVS4:p.Glu409Asp SP substitution exon 1 VAR_042354 Q9BVS4:p.Arg507His SP substitution exon 1 VAR_042355 O14730:p.Leu336Val SP substitution exon 1 VAR_042356 O14730:p.Arg441Gln SP substitution exon 1 VAR_042357 O14730:p.Ser447Leu SP substitution exon 1 VAR_042358 Q05823:p.Ile97Leu SP substitution exon 1 VAR_042359 Q05823:p.Ala289Thr SP substitution exon 1 VAR_042364 Q96RU8:p.Ser173Arg SP substitution exon 1 VAR_042371 Q92519:p.His4Arg SP substitution exon 1 VAR_042372 Q96RU7:p.Thr60Ile SP substitution exon 1 VAR_042373 Q96RU7:p.Arg153His SP substitution exon 1 VAR_042374 Q96RU7:p.Arg274His SP substitution exon 1 VAR_042375 Q96RU7:p.Glu347Lys SP substitution exon 1 VAR_042376 Q9UPN9:p.Met580Ile SP substitution exon 1 VAR_042377 Q9UPN9:p.Leu696Ser SP substitution exon 1 VAR_042378 Q9UPN9:p.Glu811Lys SP substitution exon 1 VAR_042379 Q9UPN9:p.Pro885Ser SP substitution exon 1 VAR_042380 Q9UPN9:p.Val961Met SP substitution exon 1 VAR_042381 Q9UPN9:p.Pro1090Thr SP substitution exon 1 VAR_042382 O15164:p.Ile320Thr SP substitution exon 1 VAR_042383 O15164:p.Thr403Asn SP substitution exon 1 VAR_042384 O15164:p.Ser762Asn SP substitution exon 1 VAR_042385 O15164:p.Arg1009Ser SP substitution exon 1 VAR_042387 Q9BX84:p.Gly75Val SP substitution exon 1 VAR_042388 Q9BX84:p.Met338Ile SP substitution exon 1 VAR_042389 Q9BX84:p.Trp1007Cys SP substitution exon 1 VAR_042390 Q9BX84:p.His1243Arg SP substitution exon 1 VAR_042391 Q9BX84:p.Gln1274Arg SP substitution exon 1 VAR_042392 Q9BX84:p.Gln1663Arg SP substitution exon 1 VAR_042393 Q9BX84:p.Leu1673Ser SP substitution exon 1 VAR_042394 Q9BX84:p.Thr1724Ile SP substitution exon 1 VAR_042395 Q96QT4:p.Gly68Val SP substitution exon 1 VAR_042396 Q96QT4:p.Ser406Cys SP substitution exon 1 VAR_042397 Q96QT4:p.Ile459Thr SP substitution exon 1 VAR_042398 Q96QT4:p.Lys574Asn SP substitution exon 1 VAR_042399 Q96QT4:p.Thr720Ser SP substitution exon 1 VAR_042400 Q96QT4:p.Met830Val SP substitution exon 1 VAR_042401 Q96QT4:p.Phe949Tyr SP substitution exon 1 VAR_042402 Q96QT4:p.Gln1064Arg SP substitution exon 1 VAR_042403 Q96QT4:p.Ile1211Thr SP substitution exon 1 VAR_042404 Q96QT4:p.Ala1254Val SP substitution exon 1 VAR_042405 Q96QT4:p.Asp1306Glu SP substitution exon 1 VAR_042406 Q96QT4:p.Arg1444Lys SP substitution exon 1 VAR_042407 Q6IBS0:p.Arg72Cys SP substitution exon 1 VAR_042408 Q6IBS0:p.Gln76Arg SP substitution exon 1 VAR_042409 Q6IBS0:p.Ala103Thr SP substitution exon 1 VAR_042410 Q8WWN9:p.Ser194Pro SP substitution exon 1 VAR_042411 Q96HA7:p.Val488Met SP substitution exon 1 VAR_042412 Q96HA7:p.Gly493Ser SP substitution exon 1 VAR_042413 Q96HA7:p.Ala714Val SP substitution exon 1 VAR_042414 Q96HA7:p.Pro1276Leu SP substitution exon 1 VAR_042415 P15169:p.Gly178Asp SP substitution exon 1 VAR_042416 O60481:p.Trp255Gly SP substitution exon 1 VAR_042417 O95528:p.Arg132Trp SP substitution exon 1 VAR_042418 O95528:p.Gly142Val SP substitution exon 1 VAR_042419 O95528:p.Arg225His SP substitution exon 1 VAR_042420 O95528:p.Arg231Gln SP substitution exon 1 VAR_042421 O95528:p.Gly246Glu SP substitution exon 1 VAR_042422 O95528:p.Gly426Trp SP substitution exon 1 VAR_042423 O95528:p.Glu437Lys SP substitution exon 1 VAR_042424 O95528:p.Gly445Glu SP substitution exon 1 VAR_042425 Q14444:p.Ala263Asp SP substitution exon 1 VAR_042426 Q14444:p.Gln588His SP substitution exon 1 VAR_042427 Q14444:p.Arg616His SP substitution exon 1 VAR_042428 P29353:p.Ala205Val SP substitution exon 1 VAR_042429 Q92600:p.Ile143Thr SP substitution exon 1 VAR_042431 Q8IYD1:p.Pro23Thr SP substitution exon 1 VAR_042432 Q0VD83:p.Ala419Pro SP substitution exon 1 VAR_042433 Q5T6J7:p.Lys185Thr SP substitution exon 1 VAR_042434 Q96IJ6:p.Ser21Phe SP substitution exon 1 VAR_042435 Q96IJ6:p.Val156Ala SP substitution exon 1 VAR_042436 Q96FE5:p.Ser183Phe SP substitution exon 1 VAR_042437 Q8TB68:p.Pro127His SP substitution exon 1 VAR_042439 Q96RJ6:p.Gly36Arg SP substitution exon 1 VAR_042441 P07602:p.Leu349Pro SP substitution exon 1 VAR_042443 Q99814:p.Gly537Trp SP substitution exon 1 VAR_042444 P35558:p.Glu586Asp SP substitution exon 1 VAR_042445 Q16822:p.Arg31Gln SP substitution exon 1 VAR_042446 Q16822:p.Asp64Asn SP substitution exon 1 VAR_042447 Q16822:p.Gly406Ser SP substitution exon 1 VAR_042448 P17661:p.Ser2Ile SP substitution exon 1 VAR_042449 P17661:p.Ser46Phe SP substitution exon 1 VAR_042450 P17661:p.Ser46Tyr SP substitution exon 1 VAR_042451 P17661:p.Ala213Val SP substitution exon 1 VAR_042452 P17661:p.Glu245Asp SP substitution exon 1 VAR_042453 P17661:p.Asn342Asp SP substitution exon 1 VAR_042454 P17661:p.Arg350Pro SP substitution exon 1 VAR_042455 P17661:p.Arg355Pro SP substitution exon 1 VAR_042456 P17661:p.Ala357Pro SP substitution exon 1 VAR_042457 P17661:p.Leu370Pro SP substitution exon 1 VAR_042458 P17661:p.Arg406Trp SP substitution exon 1 VAR_042459 P17661:p.Thr442Ile SP substitution exon 1 VAR_042460 P17661:p.Lys449Met SP substitution exon 1 VAR_042461 P17661:p.Lys449Thr SP substitution exon 1 VAR_042462 P17661:p.Arg454Trp SP substitution exon 1 VAR_042463 P17661:p.Ser460Ile SP substitution exon 1 VAR_042464 Q9NS87:p.Ala211Val SP substitution exon 1 VAR_042465 Q9NS87:p.Thr996Ser SP substitution exon 1 VAR_042466 Q9NS87:p.Leu1206Met SP substitution exon 1 VAR_042467 Q9NS87:p.Glu1272Asp SP substitution exon 1 VAR_042468 A8K0R7:p.Pro531Ser SP substitution exon 1 VAR_042469 A8K0R7:p.Val693Met SP substitution exon 1 VAR_042470 A8K0R7:p.Phe731Leu SP substitution exon 1 VAR_042471 Q8N3K9:p.Tyr64Cys SP substitution exon 1 VAR_042472 Q8N3K9:p.Gln175His SP substitution exon 1 VAR_042473 Q8N3K9:p.Asp190Gly SP substitution exon 1 VAR_042474 Q8N3K9:p.Gly349Asp SP substitution exon 1 VAR_042475 Q8N3K9:p.Gly591Asp SP substitution exon 1 VAR_042476 Q8N3K9:p.Val1006Ala SP substitution exon 1 VAR_042477 Q8N3K9:p.Ala1295Val SP substitution exon 1 VAR_042478 Q8N3K9:p.Ile1309Val SP substitution exon 1 VAR_042479 Q8N3K9:p.Ala1333Val SP substitution exon 1 VAR_042480 Q8N3K9:p.Ile1380Val SP substitution exon 1 VAR_042481 Q8N3K9:p.Ala1567Glu SP substitution exon 1 VAR_042482 Q8N3K9:p.Ser1599Ala SP substitution exon 1 VAR_042483 Q8N3K9:p.Leu1669Ser SP substitution exon 1 VAR_042484 Q8N3K9:p.Ile1713Asn SP substitution exon 1 VAR_042485 Q8N3K9:p.Ile1721Val SP substitution exon 1 VAR_042486 Q8N3K9:p.Ala1875Val SP substitution exon 1 VAR_042487 Q8N3K9:p.Asp1917Gly SP substitution exon 1 VAR_042488 Q8N3K9:p.Ser1920Gly SP substitution exon 1 VAR_042489 Q8N3K9:p.Val2262Leu SP substitution exon 1 VAR_042490 Q8N3K9:p.Lys2383Glu SP substitution exon 1 VAR_042491 Q8N3K9:p.Thr2693Ile SP substitution exon 1 VAR_042492 Q8N3K9:p.Lys2906Asn SP substitution exon 1 VAR_042493 Q8N3K9:p.Gly2935Arg SP substitution exon 1 VAR_042494 Q8N3K9:p.His3358Gln SP substitution exon 1 VAR_042495 Q8N3K9:p.Lys3583Glu SP substitution exon 1 VAR_042496 Q8N3K9:p.Arg3927Gln SP substitution exon 1 VAR_042497 Q8N3K9:p.Pro4063Leu SP substitution exon 1 VAR_042498 Q9GZV1:p.Ala62Thr SP substitution exon 1 VAR_042499 Q8IZS6:p.Ile67Val SP substitution exon 1 VAR_042500 Q8IZS6:p.Arg88Ile SP substitution exon 1 VAR_042501 Q8IZS6:p.Val121Ala SP substitution exon 1 VAR_042502 Q8IU81:p.Met24Ile SP substitution exon 1 VAR_042503 Q7Z5L9:p.Ala254Val SP substitution exon 1 VAR_042504 Q8NCN5:p.Tyr109His SP substitution exon 1 VAR_042505 Q6IC98:p.Ser159Ile SP substitution exon 1 VAR_042506 Q30201:p.Arg6Ser SP substitution exon 1 VAR_042507 Q30201:p.Gly43Asp SP substitution exon 1 VAR_042508 Q30201:p.Arg66Cys SP substitution exon 1 VAR_042509 Q30201:p.Ala176Val SP substitution exon 1 VAR_042510 Q30201:p.Arg224Gly SP substitution exon 1 VAR_042511 Q30201:p.Val295Ala SP substitution exon 1 VAR_042512 P81172:p.Arg59Gly SP substitution exon 1 VAR_042513 P81172:p.Cys70Arg SP substitution exon 1 VAR_042514 P81172:p.Cys78Tyr SP substitution exon 1 VAR_042515 Q9UP52:p.Val22Ile SP substitution exon 1 VAR_042516 Q9UP52:p.Arg455Gln SP substitution exon 1 VAR_042518 Q8TF27:p.Ile82Val SP substitution exon 1 VAR_042519 A8MPS7:p.Ala263Thr SP substitution exon 1 VAR_042520 Q96HJ9:p.Ser8Ala SP substitution exon 1 VAR_042521 P32927:p.Glu249Gln SP substitution exon 1 VAR_042522 P32927:p.Pro696Ser SP substitution exon 1 VAR_042523 A6NGQ2:p.Ala18Thr SP substitution exon 1 VAR_042524 A6NGQ2:p.Val92Ala SP substitution exon 1 VAR_042525 Q6UWB4:p.Pro44Arg SP substitution exon 1 VAR_042526 Q6UWB4:p.Ala212Val SP substitution exon 1 VAR_042527 A6NC57:p.Ala188Ser SP substitution exon 1 VAR_042528 A6NC57:p.Cys265Arg SP substitution exon 1 VAR_042529 A6NC57:p.Glu406Lys SP substitution exon 1 VAR_042530 A6NC57:p.Ala613Thr SP substitution exon 1 VAR_042531 A1L453:p.Met204Val SP substitution exon 1 VAR_042532 Q5T481:p.Pro173Thr SP substitution exon 1 VAR_042533 Q5T481:p.Trp768Ser SP substitution exon 1 VAR_042534 A6QL63:p.Ala1002Asp SP substitution exon 1 VAR_042535 A6QL63:p.Gly1076Ser SP substitution exon 1 VAR_042536 Q8TF21:p.Ala111Thr SP substitution exon 1 VAR_042537 Q8TF21:p.Arg349Gln SP substitution exon 1 VAR_042538 Q8TF21:p.Glu585Lys SP substitution exon 1 VAR_042539 Q8TF21:p.Ser684Ala SP substitution exon 1 VAR_042542 Q8N7Z5:p.Asp702Asn SP substitution exon 1 VAR_042543 Q8N7Z5:p.Arg758Gly SP substitution exon 1 VAR_042544 Q8N7Z5:p.Asp1609Glu SP substitution exon 1 VAR_042545 Q8N7Z5:p.Arg1777Lys SP substitution exon 1 VAR_042546 Q8NBW4:p.Ser182Thr SP substitution exon 1 VAR_042547 Q6P1Q9:p.Cys124Arg SP substitution exon 1 VAR_042548 Q6P1Q9:p.Asn129His SP substitution exon 1 VAR_042549 Q6P1Q9:p.Glu169Lys SP substitution exon 1 VAR_042551 A2VDJ0:p.Ile604Val SP substitution exon 1 VAR_042552 A2VDJ0:p.Met645Thr SP substitution exon 1 VAR_042553 A2VDJ0:p.Ser1110Tyr SP substitution exon 1 VAR_042554 A2VDJ0:p.Asn1254Ser SP substitution exon 1 VAR_042555 A2VDJ0:p.Ala1392Pro SP substitution exon 1 VAR_042556 Q15751:p.Leu1088Phe SP substitution exon 1 VAR_042557 Q15751:p.Leu1278Phe SP substitution exon 1 VAR_042558 Q15751:p.Gly1411Val SP substitution exon 1 VAR_042559 Q15751:p.His1447Asn SP substitution exon 1 VAR_042560 Q15751:p.Ser1572Ala SP substitution exon 1 VAR_042561 Q15751:p.Gly1696Ala SP substitution exon 1 VAR_042562 Q15751:p.Thr1995Ala SP substitution exon 1 VAR_042563 Q15751:p.Ile2220Val SP substitution exon 1 VAR_042564 Q15751:p.Ala2816Thr SP substitution exon 1 VAR_042565 Q15751:p.Ser3152Phe SP substitution exon 1 VAR_042566 Q15751:p.Gly3517Arg SP substitution exon 1 VAR_042567 Q15751:p.Glu3722Asp SP substitution exon 1 VAR_042570 Q5VTL7:p.Ser309Asn SP substitution exon 1 VAR_042571 Q5VTL7:p.Val353Ala SP substitution exon 1 VAR_042572 Q5VTL7:p.Asn367Ser SP substitution exon 1 VAR_042574 Q3LFD5:p.Tyr130Cys SP substitution exon 1 VAR_042576 Q6T423:p.Ser250Gly SP substitution exon 1 VAR_042577 Q6T423:p.Arg300Thr SP substitution exon 1 VAR_042578 Q9NZQ8:p.Val254Ala SP substitution exon 1 VAR_042580 Q9UHJ6:p.Glu215Lys SP substitution exon 1 VAR_042581 Q9UG01:p.Arg953His SP substitution exon 1 VAR_042582 Q969T7:p.Ala201Val SP substitution exon 1 VAR_042583 Q969T7:p.Ser205Cys SP substitution exon 1 VAR_042600 Q8NCX0:p.Glu156Lys SP substitution exon 1 VAR_042601 A6NDI0:p.Leu398Met SP substitution exon 1 VAR_042602 Q8NBK3:p.Trp179Ser SP substitution exon 1 VAR_042603 Q13642:p.Trp122Ser SP substitution exon 1 VAR_042605 Q13642:p.Cys224Trp SP substitution exon 1 VAR_042606 Q01432:p.Asn310Lys SP substitution exon 1 VAR_042607 Q01432:p.Val311Leu SP substitution exon 1 VAR_042608 Q01432:p.Ala320Val SP substitution exon 1 VAR_042609 Q01432:p.Met324Thr SP substitution exon 1 VAR_042610 Q01432:p.Arg331Cys SP substitution exon 1 VAR_042611 Q01432:p.Arg402Cys SP substitution exon 1 VAR_042612 Q01432:p.Trp450Arg SP substitution exon 1 VAR_042613 Q01432:p.Tyr455His SP substitution exon 1 VAR_042614 Q01432:p.Pro585Leu SP substitution exon 1 VAR_042616 Q6GPH4:p.Glu85Gly SP substitution exon 1 VAR_042617 Q6GPH4:p.Arg132His SP substitution exon 1 VAR_042618 Q6GPH4:p.Glu188Lys SP substitution exon 1 VAR_042619 Q6GPH4:p.Arg219Ile SP substitution exon 1 VAR_042620 Q6ZN28:p.Leu31Val SP substitution exon 1 VAR_042621 Q6ZN28:p.Pro50Leu SP substitution exon 1 VAR_042622 Q6ZN28:p.Ser515Leu SP substitution exon 1 VAR_042623 Q6ZN28:p.Glu728Ala SP substitution exon 1 VAR_042624 Q6ZN28:p.Arg804Thr SP substitution exon 1 VAR_042625 A5YM72:p.Pro14Thr SP substitution exon 1 VAR_042626 Q6PIF6:p.Gly21Ser SP substitution exon 1 VAR_042627 Q6PIF6:p.Arg1264Gln SP substitution exon 1 VAR_042628 Q6PIF6:p.Glu1647Asp SP substitution exon 1 VAR_042629 Q6PIF6:p.Gln2105Arg SP substitution exon 1 VAR_042630 Q3B820:p.Ile236Val SP substitution exon 1 VAR_042631 Q3B820:p.Glu273Lys SP substitution exon 1 VAR_042643 Q8TDG4:p.Asp565Asn SP substitution exon 1 VAR_042644 Q8IZA0:p.Gly243Asp SP substitution exon 1 VAR_042645 Q8IZA0:p.Gln837His SP substitution exon 1 VAR_042646 A6NGG8:p.Ser13Cys SP substitution exon 1 VAR_042647 A6NGG8:p.Lys421Arg SP substitution exon 1 VAR_042648 A6NGG8:p.Thr580Met SP substitution exon 1 VAR_042649 A6NGG8:p.Leu792Val SP substitution exon 1 VAR_042650 A6NGG8:p.Pro1254Leu SP substitution exon 1 VAR_042652 P21583:p.Thr54Ala SP substitution exon 1 VAR_042653 P21583:p.Phe232Tyr SP substitution exon 1 VAR_042654 Q01726:p.Gly89Arg SP substitution exon 1 VAR_042655 Q01726:p.Thr95Met SP substitution exon 1 VAR_042656 Q01726:p.Gly104Ser SP substitution exon 1 VAR_042657 Q01726:p.Ile120Thr SP substitution exon 1 VAR_042659 Q01726:p.Thr157Ile SP substitution exon 1 VAR_042660 Q01726:p.Pro159Thr SP substitution exon 1 VAR_042661 Q01726:p.Ala166Gly SP substitution exon 1 VAR_042662 Q01726:p.Ala171Ser SP substitution exon 1 VAR_042663 Q01726:p.Leu192Met SP substitution exon 1 VAR_042665 P14679:p.Lys142Asn SP substitution exon 1 VAR_042666 Q9Y6K9:p.Ala323Pro SP substitution exon 1 VAR_042667 Q9HBH7:p.Val9Leu SP substitution exon 1 VAR_042668 Q9HBH7:p.Ser11Asn SP substitution exon 1 VAR_042669 Q9HBH7:p.Ser13Ile SP substitution exon 1 VAR_042670 Q9HBH7:p.Met14Val SP substitution exon 1 VAR_042671 Q9HBH7:p.Ala17Val SP substitution exon 1 VAR_042676 Q6ZRM9:p.Ala149Val SP substitution exon 1 VAR_042679 Q6ZSG2:p.Ala147Val SP substitution exon 1 VAR_042684 Q2KHT4:p.Phe39Leu SP substitution exon 1 VAR_042685 Q2KHT4:p.Gly67Val SP substitution exon 1 VAR_042686 A2RUH7:p.Asp269Asn SP substitution exon 1 VAR_042687 A0PJX4:p.Trp13Cys SP substitution exon 1 VAR_042688 Q96EF0:p.Trp127Arg SP substitution exon 1 VAR_042689 Q96EF0:p.Glu454Lys SP substitution exon 1 VAR_042690 Q49A92:p.Lys75Asn SP substitution exon 1 VAR_042691 Q49A92:p.Ala426Thr SP substitution exon 1 VAR_042693 Q92619:p.Arg139His SP substitution exon 1 VAR_042694 Q92619:p.Glu259Asp SP substitution exon 1 VAR_042695 Q92619:p.Ser439Gly SP substitution exon 1 VAR_042696 Q92619:p.Met515Ile SP substitution exon 1 VAR_042698 O97980:p.His16Tyr SP substitution exon 1 VAR_042699 Q9HCM4:p.Ala462Thr SP substitution exon 1 VAR_042700 O75503:p.Arg63His SP substitution exon 1 VAR_042701 O75503:p.Tyr209Asp SP substitution exon 1 VAR_042702 O75503:p.Arg63Pro SP substitution exon 1 VAR_042703 Q8NB90:p.Cys27Ser SP substitution exon 1 VAR_042704 Q8NB90:p.Ser673Tyr SP substitution exon 1 VAR_042705 P31513:p.Glu24Asp SP substitution exon 1 VAR_042706 P31513:p.Asn61Lys SP substitution exon 1 VAR_042707 P31513:p.Lys416Asn SP substitution exon 1 VAR_042710 O76038:p.Ala216Val SP substitution exon 1 VAR_042711 Q7Z572:p.Pro24Ser SP substitution exon 1 VAR_042712 Q7Z572:p.Ile53Leu SP substitution exon 1 VAR_042713 Q7Z572:p.Gln184Arg SP substitution exon 1 VAR_042714 Q7Z572:p.Val255Leu SP substitution exon 1 VAR_042715 Q7Z572:p.Asn390Lys SP substitution exon 1 VAR_042716 Q8TCU3:p.Val249Met SP substitution exon 1 VAR_042717 Q8TCU3:p.Arg380Lys SP substitution exon 1 VAR_042718 Q8TCU3:p.Met452Thr SP substitution exon 1 VAR_042719 Q8TCU3:p.Glu470Lys SP substitution exon 1 VAR_042720 Q6E0U4:p.Ala13Asp SP substitution exon 1 VAR_042721 Q6E0U4:p.Ala415Ser SP substitution exon 1 VAR_042722 O15417:p.Ala1193Gly SP substitution exon 1 VAR_042723 Q9P2X3:p.Asp125Glu SP substitution exon 1 VAR_042724 Q9P2X3:p.Leu151Val SP substitution exon 1 VAR_042725 Q9UGC7:p.Thr38Ala SP substitution exon 1 VAR_042726 Q9UGC7:p.Arg76Gln SP substitution exon 1 VAR_042727 Q9UGC7:p.Leu177Phe SP substitution exon 1 VAR_042728 Q9UGC7:p.Val214Ile SP substitution exon 1 VAR_042729 Q9NTN3:p.Ala82Thr SP substitution exon 1 VAR_042730 Q9Y487:p.Arg685Gln SP substitution exon 1 VAR_042731 Q9Y487:p.Ala813Val SP substitution exon 1 VAR_042732 Q96N76:p.Arg429Cys SP substitution exon 1 VAR_042733 P82650:p.Arg170His SP substitution exon 1 VAR_042734 P02649:p.Arg43Cys SP substitution exon 1 VAR_042735 P02649:p.Arg163Pro SP substitution exon 1 VAR_042736 Q16873:p.Arg142Gln SP substitution exon 1 VAR_042737 Q8NI38:p.Val29Ala SP substitution exon 1 VAR_042738 Q8WYK2:p.Thr13Ala SP substitution exon 1 VAR_042739 O95447:p.Gly547Ser SP substitution exon 1 VAR_042745 P19429:p.Arg162Gln SP substitution exon 1 VAR_042746 P19429:p.Arg204His SP substitution exon 1 VAR_042750 Q96E93:p.Trp58Arg SP substitution exon 1 VAR_042751 Q86UD5:p.Ile159Thr SP substitution exon 1 VAR_042752 Q86UD5:p.Val161Ala SP substitution exon 1 VAR_042753 Q86UD5:p.Phe357Cys SP substitution exon 1 VAR_042754 Q96KA5:p.Lys313Asn SP substitution exon 1 VAR_042755 Q96KA5:p.Thr537Met SP substitution exon 1 VAR_042756 Q8IYY4:p.Arg321Trp SP substitution exon 1 VAR_042757 Q8IYY4:p.Thr545Ala SP substitution exon 1 VAR_042758 Q8IYY4:p.Ala551Val SP substitution exon 1 VAR_042759 Q8IYY4:p.Arg593His SP substitution exon 1 VAR_042760 Q8IYY4:p.Lys645Glu SP substitution exon 1 VAR_042761 Q96HM7:p.Pro429Ala SP substitution exon 1 VAR_042762 P12883:p.Tyr115His SP substitution exon 1 VAR_042763 P12883:p.Arg143Gly SP substitution exon 1 VAR_042764 P12883:p.Lys146Asn SP substitution exon 1 VAR_042765 P12883:p.Ser148Ile SP substitution exon 1 VAR_042766 P12883:p.Val186Leu SP substitution exon 1 VAR_042767 P12883:p.Ala196Thr SP substitution exon 1 VAR_042768 P12883:p.Ile201Thr SP substitution exon 1 VAR_042769 P12883:p.Lys207Gln SP substitution exon 1 VAR_042770 P12883:p.Pro211Leu SP substitution exon 1 VAR_042771 P12883:p.Leu227Val SP substitution exon 1 VAR_042772 P12883:p.Ile263Met SP substitution exon 1 VAR_042773 P12883:p.Phe312Cys SP substitution exon 1 VAR_042774 P12883:p.Glu328Gly SP substitution exon 1 VAR_042775 P12883:p.Lys351Glu SP substitution exon 1 VAR_042776 P12883:p.Lys383Asn SP substitution exon 1 VAR_042777 P12883:p.Ala385Val SP substitution exon 1 VAR_042778 P12883:p.Val404Leu SP substitution exon 1 VAR_042779 P12883:p.Val404Met SP substitution exon 1 VAR_042780 P12883:p.Gly407Val SP substitution exon 1 VAR_042781 P12883:p.Thr412Asn SP substitution exon 1 VAR_042782 P12883:p.Gly425Arg SP substitution exon 1 VAR_042783 P12883:p.Met435Thr SP substitution exon 1 VAR_042784 P12883:p.Val440Met SP substitution exon 1 VAR_042785 P12883:p.Thr441Met SP substitution exon 1 VAR_042786 P12883:p.Lys450Glu SP substitution exon 1 VAR_042787 P12883:p.Lys450Thr SP substitution exon 1 VAR_042788 P12883:p.Arg453His SP substitution exon 1 VAR_042789 P12883:p.Glu500Ala SP substitution exon 1 VAR_042790 P12883:p.Tyr501Cys SP substitution exon 1 VAR_042791 P12883:p.Ile511Phe SP substitution exon 1 VAR_042792 P12883:p.Ile511Thr SP substitution exon 1 VAR_042793 P12883:p.Met515Arg SP substitution exon 1 VAR_042794 P12883:p.Ala550Val SP substitution exon 1 VAR_042795 P12883:p.Gly571Arg SP substitution exon 1 VAR_042796 P12883:p.His576Arg SP substitution exon 1 VAR_042797 P12883:p.Lys615Gln SP substitution exon 1 VAR_042798 P12883:p.Arg663Cys SP substitution exon 1 VAR_042799 P12883:p.Val698Ala SP substitution exon 1 VAR_042800 P12883:p.Gln734Pro SP substitution exon 1 VAR_042801 P12883:p.Ala742Glu SP substitution exon 1 VAR_042802 P12883:p.Val763Gly SP substitution exon 1 VAR_042803 P12883:p.Glu774Val SP substitution exon 1 VAR_042804 P12883:p.Asp778Val SP substitution exon 1 VAR_042805 P12883:p.Met822Leu SP substitution exon 1 VAR_042806 P12883:p.Met822Thr SP substitution exon 1 VAR_042807 P12883:p.Gly823Glu SP substitution exon 1 VAR_042809 P12883:p.Arg858His SP substitution exon 1 VAR_042810 P12883:p.Arg869His SP substitution exon 1 VAR_042811 P12883:p.Gln882Glu SP substitution exon 1 VAR_042812 P12883:p.Glu894Gly SP substitution exon 1 VAR_042813 P12883:p.Ala901Gly SP substitution exon 1 VAR_042814 P12883:p.Asp906Gly SP substitution exon 1 VAR_042815 P12883:p.Glu921Lys SP substitution exon 1 VAR_042816 P12883:p.Glu927Lys SP substitution exon 1 VAR_042817 P12883:p.Glu931Lys SP substitution exon 1 VAR_042818 P12883:p.Asp953His SP substitution exon 1 VAR_042819 P12883:p.Thr1019Asn SP substitution exon 1 VAR_042820 P12883:p.Gly1057Asp SP substitution exon 1 VAR_042821 P12883:p.Gly1057Ser SP substitution exon 1 VAR_042822 P12883:p.Arg1193Ser SP substitution exon 1 VAR_042823 P12883:p.Asn1327Lys SP substitution exon 1 VAR_042824 P12883:p.Glu1356Lys SP substitution exon 1 VAR_042825 P12883:p.Arg1420Trp SP substitution exon 1 VAR_042826 P12883:p.Glu1426Lys SP substitution exon 1 VAR_042827 P12883:p.Ala1454Thr SP substitution exon 1 VAR_042828 P12883:p.Lys1459Asn SP substitution exon 1 VAR_042829 P12883:p.Arg1475Cys SP substitution exon 1 VAR_042830 P12883:p.Thr1513Ser SP substitution exon 1 VAR_042831 P12883:p.Ser1519Cys SP substitution exon 1 VAR_042833 P12883:p.Arg1634Cys SP substitution exon 1 VAR_042834 P12883:p.Arg1712Trp SP substitution exon 1 VAR_042836 P12883:p.Glu1753Lys SP substitution exon 1 VAR_042837 P12883:p.Glu1768Lys SP substitution exon 1 VAR_042838 P12883:p.Thr1854Met SP substitution exon 1 VAR_042839 P12883:p.Glu1883Lys SP substitution exon 1 VAR_042840 P12883:p.His1901Leu SP substitution exon 1 VAR_042841 P12883:p.Lys1919Asn SP substitution exon 1 VAR_042842 P12883:p.Thr1929Met SP substitution exon 1 VAR_042843 Q9NXN4:p.Pro95Arg SP substitution exon 1 VAR_042844 Q9NXN4:p.Gly106Ser SP substitution exon 1 VAR_042845 Q9NXN4:p.Gln312Pro SP substitution exon 1 VAR_042846 Q9NXN4:p.Thr489Ala SP substitution exon 1 VAR_042847 Q86UX2:p.Glu139Lys SP substitution exon 1 VAR_042848 Q86UX2:p.Asn207His SP substitution exon 1 VAR_042849 Q86UX2:p.Thr570Pro SP substitution exon 1 VAR_042850 Q86UX2:p.Arg629Cys SP substitution exon 1 VAR_042851 Q969G5:p.Arg8Pro SP substitution exon 1 VAR_042852 Q969G5:p.Ala104Thr SP substitution exon 1 VAR_042853 Q969G5:p.Leu158Pro SP substitution exon 1 VAR_042854 Q969G5:p.Leu255Phe SP substitution exon 1 VAR_042855 Q3SY00:p.Ala210Val SP substitution exon 1 VAR_042856 Q3SY00:p.Arg237Ser SP substitution exon 1 VAR_042857 Q3SY00:p.Ser292Asn SP substitution exon 1 VAR_042858 Q3SY00:p.Arg305Pro SP substitution exon 1 VAR_042859 Q3SY00:p.Val521Met SP substitution exon 1 VAR_042860 Q5GJ75:p.Ala38Thr SP substitution exon 1 VAR_042863 Q6Q759:p.Arg143Gln SP substitution exon 1 VAR_042864 Q6Q759:p.Glu158Val SP substitution exon 1 VAR_042865 Q6Q759:p.Thr1253Pro SP substitution exon 1 VAR_042866 Q6Q759:p.Pro1348Leu SP substitution exon 1 VAR_042867 Q6Q759:p.Asp1707Glu SP substitution exon 1 VAR_042868 Q5D862:p.Leu41Phe SP substitution exon 1 VAR_042869 Q5D862:p.Arg107Gln SP substitution exon 1 VAR_042870 Q5D862:p.Gly137Glu SP substitution exon 1 VAR_042871 Q5D862:p.Arg276Gln SP substitution exon 1 VAR_042872 Q5D862:p.Cys298Ser SP substitution exon 1 VAR_042873 Q5D862:p.Glu723Lys SP substitution exon 1 VAR_042874 Q5D862:p.Tyr881Ser SP substitution exon 1 VAR_042875 Q5D862:p.His1249Arg SP substitution exon 1 VAR_042876 Q5D862:p.Glu1992Asp SP substitution exon 1 VAR_042877 Q5D862:p.Gln2239His SP substitution exon 1 VAR_042886 Q05D32:p.Ala244Val SP substitution exon 1 VAR_042889 Q9H6A9:p.Gln258Arg SP substitution exon 1 VAR_042890 Q9H6A9:p.Ser458Cys SP substitution exon 1 VAR_042891 Q9H6A9:p.Lys813Asn SP substitution exon 1 VAR_042892 Q5TG30:p.Gly133Arg SP substitution exon 1 VAR_042893 Q5TG30:p.Arg413Leu SP substitution exon 1 VAR_042894 Q5TG30:p.His463Asn SP substitution exon 1 VAR_042895 Q86UW1:p.Val202Ile SP substitution exon 1 VAR_042896 Q8WWX8:p.Val182Ala SP substitution exon 1 VAR_042897 Q8WWX8:p.Phe258Leu SP substitution exon 1 VAR_042898 Q8WWX8:p.Gln452Arg SP substitution exon 1 VAR_042899 Q8WWX8:p.Met526Ile SP substitution exon 1 VAR_042900 Q8N9S9:p.Asp73His SP substitution exon 1 VAR_042903 Q9BQA1:p.Ser48Ile SP substitution exon 1 VAR_042904 Q9P2U7:p.Pro431Arg SP substitution exon 1 VAR_042905 Q8NDX2:p.Thr8Ile SP substitution exon 1 VAR_042907 Q9Y2H2:p.Ile453Val SP substitution exon 1 VAR_042908 Q9Y2H2:p.Asn997Asp SP substitution exon 1 VAR_042909 A4D2P6:p.Arg20Gln SP substitution exon 1 VAR_042910 Q5T1R4:p.Val35Ile SP substitution exon 1 VAR_042911 Q5T1R4:p.Val484Met SP substitution exon 1 VAR_042912 Q5T1R4:p.His575Arg SP substitution exon 1 VAR_042913 Q5T1R4:p.Gln1087His SP substitution exon 1 VAR_042914 Q5T1R4:p.Ala2023Pro SP substitution exon 1 VAR_042915 Q5T1R4:p.Asp2109Ala SP substitution exon 1 VAR_042916 Q5T1R4:p.Gly2272Arg SP substitution exon 1 VAR_042917 Q5T1R4:p.Thr2339Ala SP substitution exon 1 VAR_042918 Q96SK2:p.Pro469Arg SP substitution exon 1 VAR_042919 Q96SK2:p.His505Arg SP substitution exon 1 VAR_042920 Q7RTY5:p.Cys53Tyr SP substitution exon 1 VAR_042921 Q7RTY5:p.Leu118Ser SP substitution exon 1 VAR_042922 Q7RTY5:p.Arg290Cys SP substitution exon 1 VAR_042923 Q96LA6:p.Val124Met SP substitution exon 1 VAR_042924 Q96P31:p.Asn28Asp SP substitution exon 1 VAR_042925 Q96P31:p.Leu307Phe SP substitution exon 1 VAR_042926 Q96P31:p.His445Asn SP substitution exon 1 VAR_042927 Q96P31:p.Pro660Leu SP substitution exon 1 VAR_042928 Q96P31:p.Asn721Ser SP substitution exon 1 VAR_042929 Q96PJ5:p.Arg60Gln SP substitution exon 1 VAR_042930 Q96PJ5:p.Asn255Ser SP substitution exon 1 VAR_042931 Q96PJ5:p.Lys457Arg SP substitution exon 1 VAR_042932 Q96PJ5:p.Tyr493Cys SP substitution exon 1 VAR_042933 Q7L5Y1:p.Asp31Glu SP substitution exon 1 VAR_042934 Q7L5Y1:p.Met145Thr SP substitution exon 1 VAR_042936 Q96N38:p.Lys332Arg SP substitution exon 1 VAR_042938 Q5CZC0:p.Met306Val SP substitution exon 1 VAR_042939 Q13049:p.Arg394His SP substitution exon 1 VAR_042941 Q13085:p.Arg838Trp SP substitution exon 1 VAR_042942 P42336:p.Ile43Val SP substitution exon 1 VAR_042943 P42336:p.Ser332Arg SP substitution exon 1 VAR_042948 Q9H799:p.Ile1437Thr SP substitution exon 1 VAR_042953 A6NIV6:p.Lys159Glu SP substitution exon 1 VAR_042954 Q86WJ1:p.Arg25Pro SP substitution exon 1 VAR_042955 Q86WJ1:p.His350Gln SP substitution exon 1 VAR_042959 A6NHR9:p.Val708Ile SP substitution exon 1 VAR_042960 A6NHR9:p.Lys879Asn SP substitution exon 1 VAR_042961 Q8IVN8:p.Trp186Arg SP substitution exon 1 VAR_042962 Q8IZ63:p.Pro118Leu SP substitution exon 1 VAR_042964 Q9BUG6:p.Gly337Val SP substitution exon 1 VAR_042965 A6NJL1:p.Pro187Ser SP substitution exon 1 VAR_042966 A6NJL1:p.Val208Ile SP substitution exon 1 VAR_042967 A6NJL1:p.Ser236Thr SP substitution exon 1 VAR_042968 A6NJL1:p.Ser304Thr SP substitution exon 1 VAR_042969 A6NJL1:p.Met412Leu SP substitution exon 1 VAR_042972 A6NLP5:p.Ile78Met SP substitution exon 1 VAR_042975 A6NHN0:p.Glu470Ala SP substitution exon 1 VAR_042976 A8MVW5:p.Gly31Arg SP substitution exon 1 VAR_042977 A8MVW5:p.Lys86Thr SP substitution exon 1 VAR_042979 A6NIM6:p.His141Gln SP substitution exon 1 VAR_042980 A6NIM6:p.Pro271Leu SP substitution exon 1 VAR_042981 A6NIM6:p.Asp494Glu SP substitution exon 1 VAR_042982 A6NIM6:p.Glu508Lys SP substitution exon 1 VAR_042983 Q7Z745:p.Met11Val SP substitution exon 1 VAR_042984 Q7Z745:p.Trp191Arg SP substitution exon 1 VAR_042985 Q7Z745:p.Leu263Ile SP substitution exon 1 VAR_042986 Q7Z745:p.Glu468Val SP substitution exon 1 VAR_042987 Q7Z745:p.Val496Ile SP substitution exon 1 VAR_042988 Q7Z745:p.Arg526His SP substitution exon 1 VAR_042989 Q7Z745:p.Lys617Asn SP substitution exon 1 VAR_042990 Q7Z745:p.Asp648Val SP substitution exon 1 VAR_042991 Q7Z745:p.Met781Val SP substitution exon 1 VAR_042992 Q7Z745:p.Asn918Lys SP substitution exon 1 VAR_042994 A6NDN3:p.Arg200Trp SP substitution exon 1 VAR_042998 A6NJV1:p.Gln66His SP substitution exon 1 VAR_042999 A6NK89:p.Gln194His SP substitution exon 1 VAR_043000 Q8TC94:p.Phe37Ser SP substitution exon 1 VAR_043001 Q8TC94:p.Ala42Asp SP substitution exon 1 VAR_043002 Q8TC94:p.Val51Ala SP substitution exon 1 VAR_043003 Q8TC94:p.His227Asn SP substitution exon 1 VAR_043004 Q8TC94:p.Ala332Thr SP substitution exon 1 VAR_043005 P49366:p.Glu174Asp SP substitution exon 1 VAR_043006 Q6MZQ0:p.Ala41Thr SP substitution exon 1 VAR_043007 Q6MZQ0:p.Pro330Ser SP substitution exon 1 VAR_043008 Q6TDU7:p.Arg33Ser SP substitution exon 1 VAR_043009 Q6ZN68:p.Met66Val SP substitution exon 1 VAR_043010 Q6ZN68:p.Asn333Ile SP substitution exon 1 VAR_043011 P35240:p.Met77Val SP substitution exon 1 VAR_043012 P35240:p.Leu141Pro SP substitution exon 1 VAR_043013 P35240:p.Gly197Cys SP substitution exon 1 VAR_043014 P35240:p.Lys413Glu SP substitution exon 1 VAR_043015 P35240:p.Lys533Thr SP substitution exon 1 VAR_043016 P35240:p.Leu539His SP substitution exon 1 VAR_043017 P35240:p.Lys579Met SP substitution exon 1 VAR_043018 Q96H55:p.Asn176Ser SP substitution exon 1 VAR_043019 Q96H55:p.Gln203His SP substitution exon 1 VAR_043020 Q96H55:p.Leu475Ile SP substitution exon 1 VAR_043021 Q96EK7:p.Asp370Tyr SP substitution exon 1 VAR_043022 Q96EK7:p.Met379Thr SP substitution exon 1 VAR_043023 Q96EK7:p.Tyr428Cys SP substitution exon 1 VAR_043024 Q96EK7:p.Asp430Gly SP substitution exon 1 VAR_043025 Q96EK7:p.Ser431Pro SP substitution exon 1 VAR_043026 Q96EK7:p.Pro433Ala SP substitution exon 1 VAR_043027 Q96EK7:p.Tyr440Cys SP substitution exon 1 VAR_043028 Q96EK7:p.Cys511Gly SP substitution exon 1 VAR_043033 A6NKF2:p.Arg310Gln SP substitution exon 1 VAR_043034 A6NKF2:p.Cys335Gly SP substitution exon 1 VAR_043035 Q6ZTR7:p.Glu22Lys SP substitution exon 1 VAR_043036 Q8N8F6:p.Ala54Thr SP substitution exon 1 VAR_043037 Q6P9H5:p.Gly170Asp SP substitution exon 1 VAR_043038 Q6P9H5:p.Gly171Ser SP substitution exon 1 VAR_043039 Q6P9H5:p.Gln237Arg SP substitution exon 1 VAR_043041 Q9NXP7:p.Gly22Cys SP substitution exon 1 VAR_043042 Q9NXP7:p.Thr239Met SP substitution exon 1 VAR_043043 P13501:p.Ser24Phe SP substitution exon 1 VAR_043044 O43520:p.Asn45Thr SP substitution exon 1 VAR_043045 O43520:p.Asp70Asn SP substitution exon 1 VAR_043046 O43520:p.Leu127Pro SP substitution exon 1 VAR_043047 O43520:p.Lys203Glu SP substitution exon 1 VAR_043048 O43520:p.Phe305Ile SP substitution exon 1 VAR_043049 O43520:p.Gly308Asp SP substitution exon 1 VAR_043050 O43520:p.Ile344Phe SP substitution exon 1 VAR_043051 O43520:p.Arg384His SP substitution exon 1 VAR_043052 O43520:p.Ile393Val SP substitution exon 1 VAR_043053 O43520:p.Ser403Tyr SP substitution exon 1 VAR_043054 O43520:p.Arg412Pro SP substitution exon 1 VAR_043055 O43520:p.Glu429Ala SP substitution exon 1 VAR_043056 O43520:p.Ser453Tyr SP substitution exon 1 VAR_043057 O43520:p.Asp454Gly SP substitution exon 1 VAR_043058 O43520:p.Thr456Met SP substitution exon 1 VAR_043059 O43520:p.Tyr500His SP substitution exon 1 VAR_043061 O43520:p.His535Leu SP substitution exon 1 VAR_043062 O43520:p.Ser580Asn SP substitution exon 1 VAR_043063 O43520:p.Arg600Gln SP substitution exon 1 VAR_043064 O43520:p.Arg600Trp SP substitution exon 1 VAR_043065 O43520:p.Arg628Trp SP substitution exon 1 VAR_043066 O43520:p.Met674Thr SP substitution exon 1 VAR_043067 O43520:p.Asp688Gly SP substitution exon 1 VAR_043068 O43520:p.Ile694Thr SP substitution exon 1 VAR_043069 O43520:p.Gly733Arg SP substitution exon 1 VAR_043070 O43520:p.Lys814Asn SP substitution exon 1 VAR_043071 O43520:p.Phe853Ser SP substitution exon 1 VAR_043072 O43520:p.Arg867Cys SP substitution exon 1 VAR_043073 O43520:p.Gly1040Arg SP substitution exon 1 VAR_043074 O95342:p.Arg415Gln SP substitution exon 1 VAR_043075 O95342:p.Asn591Ser SP substitution exon 1 VAR_043076 O95342:p.Asp676Tyr SP substitution exon 1 VAR_043078 P21439:p.Asp87Glu SP substitution exon 1 VAR_043079 P21439:p.Pro95Ser SP substitution exon 1 VAR_043080 P21439:p.Trp138Arg SP substitution exon 1 VAR_043081 P21439:p.Arg150Lys SP substitution exon 1 VAR_043082 P21439:p.Phe165Ile SP substitution exon 1 VAR_043083 P21439:p.Met301Thr SP substitution exon 1 VAR_043084 P21439:p.Ser346Ile SP substitution exon 1 VAR_043085 P21439:p.Ile367Val SP substitution exon 1 VAR_043086 P21439:p.Glu395Gly SP substitution exon 1 VAR_043087 P21439:p.Thr424Ala SP substitution exon 1 VAR_043088 P21439:p.Val425Met SP substitution exon 1 VAR_043089 P21439:p.Glu450Gly SP substitution exon 1 VAR_043090 P21439:p.Glu528Asp SP substitution exon 1 VAR_043091 P21439:p.Gly535Asp SP substitution exon 1 VAR_043092 P21439:p.Ile541Phe SP substitution exon 1 VAR_043093 P21439:p.Leu556Arg SP substitution exon 1 VAR_043094 P21439:p.Asp564Gly SP substitution exon 1 VAR_043095 P21439:p.Arg590Gln SP substitution exon 1 VAR_043096 P21439:p.Leu591Gln SP substitution exon 1 VAR_043097 P21439:p.Phe711Ser SP substitution exon 1 VAR_043098 P21439:p.Gly742Ser SP substitution exon 1 VAR_043099 P21439:p.Gly762Glu SP substitution exon 1 VAR_043100 P21439:p.Ile764Leu SP substitution exon 1 VAR_043101 P21439:p.Thr775Met SP substitution exon 1 VAR_043102 P21439:p.Ala934Thr SP substitution exon 1 VAR_043103 P21439:p.Gly983Ser SP substitution exon 1 VAR_043104 P21439:p.Leu1082Gln SP substitution exon 1 VAR_043106 P04424:p.Asp31Asn SP substitution exon 1 VAR_043107 P04424:p.Arg113Gln SP substitution exon 1 VAR_043108 P04424:p.Arg186Gln SP substitution exon 1 VAR_043109 P04424:p.Arg236Trp SP substitution exon 1 VAR_043110 P04424:p.Val335Leu SP substitution exon 1 VAR_043111 P04424:p.Met382Arg SP substitution exon 1 VAR_043112 P04424:p.Arg456Trp SP substitution exon 1 VAR_043113 Q03154:p.Arg197Trp SP substitution exon 1 VAR_043114 Q03154:p.Arg393His SP substitution exon 1 VAR_043115 Q4G112:p.Asn329Thr SP substitution exon 1 VAR_043116 Q49A88:p.Thr365Pro SP substitution exon 1 VAR_043117 Q86VR8:p.Met153Leu SP substitution exon 1 VAR_043118 Q8IUX7:p.Pro273Thr SP substitution exon 1 VAR_043119 Q8IUX7:p.Asp648Glu SP substitution exon 1 VAR_043120 Q8IUX7:p.Pro1001Leu SP substitution exon 1 VAR_043121 Q8IUX7:p.Lys1133Glu SP substitution exon 1 VAR_043122 Q8IUX7:p.Val1148Ile SP substitution exon 1 VAR_043123 Q86WT1:p.Lys577Arg SP substitution exon 1 VAR_043124 Q8N4P2:p.Arg117His SP substitution exon 1 VAR_043126 Q96DC8:p.Ala69Thr SP substitution exon 1 VAR_043127 Q96DC8:p.Ala151Thr SP substitution exon 1 VAR_043128 Q96DC8:p.Asp162Asn SP substitution exon 1 VAR_043129 O60674:p.Asp584Glu SP substitution exon 1 VAR_043130 O95150:p.Phe110Leu SP substitution exon 1 VAR_043133 Q6ZNJ1:p.Arg447His SP substitution exon 1 VAR_043134 Q6ZNJ1:p.Arg511Gly SP substitution exon 1 VAR_043135 Q6ZNJ1:p.Ala1877Gly SP substitution exon 1 VAR_043136 Q6ZNJ1:p.Ser2054Phe SP substitution exon 1 VAR_043137 Q6ZNJ1:p.Glu2747Lys SP substitution exon 1 VAR_043138 B1ANS9:p.Arg647Gln SP substitution exon 1 VAR_043139 B1ANS9:p.Arg952Trp SP substitution exon 1 VAR_043140 P26022:p.His39Gln SP substitution exon 1 VAR_043141 P26022:p.Ala48Asp SP substitution exon 1 VAR_043142 P26022:p.Ala290Val SP substitution exon 1 VAR_043143 P26022:p.Glu313Lys SP substitution exon 1 VAR_043144 Q9NYZ2:p.Ile87Val SP substitution exon 1 VAR_043145 Q9NYZ2:p.Arg96Gln SP substitution exon 1 VAR_043146 A8K7I4:p.Asn357Ser SP substitution exon 1 VAR_043147 A8K7I4:p.Met524Thr SP substitution exon 1 VAR_043148 Q9UQC9:p.Gln306Glu SP substitution exon 1 VAR_043149 Q9UQC9:p.Gly754Glu SP substitution exon 1 VAR_043150 A6NNS2:p.Ser227Leu SP substitution exon 1 VAR_043151 O14764:p.Glu177Ala SP substitution exon 1 VAR_043152 O14764:p.Arg220Cys SP substitution exon 1 VAR_043153 O14764:p.Arg220His SP substitution exon 1 VAR_043154 Q5JVL4:p.Ile174Val SP substitution exon 1 VAR_043155 Q5JVL4:p.Cys259Tyr SP substitution exon 1 VAR_043156 Q5JVL4:p.Arg294His SP substitution exon 1 VAR_043157 Q5JVL4:p.Arg353Trp SP substitution exon 1 VAR_043158 Q5JVL4:p.Ala394Ser SP substitution exon 1 VAR_043159 Q5JVL4:p.Met448Thr SP substitution exon 1 VAR_043160 Q8IYT4:p.Ser160Asn SP substitution exon 1 VAR_043161 A8MWY0:p.Asn539Tyr SP substitution exon 1 VAR_043162 A8MWY0:p.Leu729Val SP substitution exon 1 VAR_043163 A8MWY0:p.Ser767Arg SP substitution exon 1 VAR_043166 Q2M3M2:p.Val152Met SP substitution exon 1 VAR_043167 Q2M3M2:p.Met207Thr SP substitution exon 1 VAR_043168 Q2M3M2:p.Ile269Met SP substitution exon 1 VAR_043169 Q5T4T6:p.Val94Ile SP substitution exon 1 VAR_043172 O15118:p.Cys63Arg SP substitution exon 1 VAR_043173 O15118:p.Cys74Tyr SP substitution exon 1 VAR_043174 O15118:p.Gln92Arg SP substitution exon 1 VAR_043175 O15118:p.Cys113Arg SP substitution exon 1 VAR_043176 O15118:p.Thr137Met SP substitution exon 1 VAR_043177 O15118:p.Ser151Gly SP substitution exon 1 VAR_043178 O15118:p.Pro166Ser SP substitution exon 1 VAR_043179 O15118:p.Asn222Ser SP substitution exon 1 VAR_043180 O15118:p.Val231Gly SP substitution exon 1 VAR_043181 O15118:p.Asp242His SP substitution exon 1 VAR_043182 O15118:p.Asp242Asn SP substitution exon 1 VAR_043183 O15118:p.Cys247Tyr SP substitution exon 1 VAR_043184 O15118:p.Gly248Val SP substitution exon 1 VAR_043185 O15118:p.Met272Arg SP substitution exon 1 VAR_043186 O15118:p.Trp273Ser SP substitution exon 1 VAR_043187 O15118:p.Arg372Trp SP substitution exon 1 VAR_043188 O15118:p.Leu380Phe SP substitution exon 1 VAR_043189 O15118:p.Trp381Cys SP substitution exon 1 VAR_043190 O15118:p.Ala388Pro SP substitution exon 1 VAR_043191 O15118:p.Arg389Cys SP substitution exon 1 VAR_043192 O15118:p.Pro401Thr SP substitution exon 1 VAR_043193 O15118:p.Arg404Pro SP substitution exon 1 VAR_043194 O15118:p.Arg404Gln SP substitution exon 1 VAR_043195 O15118:p.Arg404Trp SP substitution exon 1 VAR_043196 O15118:p.Pro433Leu SP substitution exon 1 VAR_043197 O15118:p.Pro434Leu SP substitution exon 1 VAR_043198 O15118:p.Pro434Ser SP substitution exon 1 VAR_043199 O15118:p.Glu451Lys SP substitution exon 1 VAR_043200 O15118:p.Pro474Leu SP substitution exon 1 VAR_043201 O15118:p.Cys479Tyr SP substitution exon 1 VAR_043202 O15118:p.Tyr509Ser SP substitution exon 1 VAR_043203 O15118:p.Thr511Met SP substitution exon 1 VAR_043204 O15118:p.His512Arg SP substitution exon 1 VAR_043205 O15118:p.Arg518Trp SP substitution exon 1 VAR_043206 O15118:p.Ala521Ser SP substitution exon 1 VAR_043207 O15118:p.Phe537Leu SP substitution exon 1 VAR_043208 O15118:p.Pro543Leu SP substitution exon 1 VAR_043209 O15118:p.Thr574Lys SP substitution exon 1 VAR_043210 O15118:p.Lys576Arg SP substitution exon 1 VAR_043211 O15118:p.Ala605Val SP substitution exon 1 VAR_043212 O15118:p.Glu612Asp SP substitution exon 1 VAR_043213 O15118:p.Arg615Cys SP substitution exon 1 VAR_043214 O15118:p.Arg615Leu SP substitution exon 1 VAR_043215 O15118:p.Met631Arg SP substitution exon 1 VAR_043216 O15118:p.Gly640Arg SP substitution exon 1 VAR_043217 O15118:p.Ser652Trp SP substitution exon 1 VAR_043218 O15118:p.Gly660Ser SP substitution exon 1 VAR_043219 O15118:p.Val664Met SP substitution exon 1 VAR_043220 O15118:p.Ser666Asn SP substitution exon 1 VAR_043221 O15118:p.Cys670Trp SP substitution exon 1 VAR_043222 O15118:p.Gly673Val SP substitution exon 1 VAR_043223 O15118:p.Leu684Phe SP substitution exon 1 VAR_043224 O15118:p.Pro691Leu SP substitution exon 1 VAR_043225 O15118:p.Leu695Val SP substitution exon 1 VAR_043226 O15118:p.Asp700Asn SP substitution exon 1 VAR_043227 O15118:p.Phe703Ser SP substitution exon 1 VAR_043228 O15118:p.Leu724Pro SP substitution exon 1 VAR_043229 O15118:p.Val727Phe SP substitution exon 1 VAR_043230 O15118:p.Ser734Ile SP substitution exon 1 VAR_043231 O15118:p.Glu742Lys SP substitution exon 1 VAR_043232 O15118:p.Ala745Glu SP substitution exon 1 VAR_043233 O15118:p.Met754Lys SP substitution exon 1 VAR_043234 O15118:p.Phe763Leu SP substitution exon 1 VAR_043235 O15118:p.Ala767Val SP substitution exon 1 VAR_043236 O15118:p.Gln775Pro SP substitution exon 1 VAR_043303 P61916:p.Val30Met SP substitution exon 1 VAR_043304 P61916:p.Cys47Phe SP substitution exon 1 VAR_043305 P61916:p.Cys93Phe SP substitution exon 1 VAR_043306 P61916:p.Cys99Arg SP substitution exon 1 VAR_043307 P61916:p.Pro120Ser SP substitution exon 1 VAR_043308 A9YTQ3:p.Leu114Pro SP substitution exon 1 VAR_043309 A9YTQ3:p.Pro189Ala SP substitution exon 1 VAR_043310 A9YTQ3:p.Gly373Val SP substitution exon 1 VAR_043312 A6H8Y1:p.Asp38Glu SP substitution exon 1 VAR_043313 A6H8Y1:p.Arg757Cys SP substitution exon 1 VAR_043314 A6H8Y1:p.Val778Met SP substitution exon 1 VAR_043315 A6H8Y1:p.Ile1264Met SP substitution exon 1 VAR_043316 A6H8Y1:p.Val1347Met SP substitution exon 1 VAR_043317 A6H8Y1:p.Lys1469Glu SP substitution exon 1 VAR_043318 A6H8Y1:p.Ile2013Leu SP substitution exon 1 VAR_043319 O15245:p.Ser14Phe SP substitution exon 1 VAR_043320 O15245:p.Phe41Leu SP substitution exon 1 VAR_043321 O15245:p.Arg61Cys SP substitution exon 1 VAR_043322 O15245:p.Leu85Phe SP substitution exon 1 VAR_043323 O15245:p.Cys88Arg SP substitution exon 1 VAR_043324 O15245:p.Leu160Phe SP substitution exon 1 VAR_043325 O15245:p.Ser189Leu SP substitution exon 1 VAR_043326 O15245:p.Gly220Val SP substitution exon 1 VAR_043327 O15245:p.Pro283Leu SP substitution exon 1 VAR_043328 O15245:p.Arg287Gly SP substitution exon 1 VAR_043329 O15245:p.Pro341Leu SP substitution exon 1 VAR_043330 O15245:p.Arg342His SP substitution exon 1 VAR_043331 O15245:p.Gly401Ser SP substitution exon 1 VAR_043332 O15245:p.Met408Val SP substitution exon 1 VAR_043334 O15245:p.Met440Ile SP substitution exon 1 VAR_043335 O15245:p.Val461Ile SP substitution exon 1 VAR_043336 O15245:p.Gly465Arg SP substitution exon 1 VAR_043337 O15245:p.Arg488Met SP substitution exon 1 VAR_043338 Q9BYH1:p.Pro52Leu SP substitution exon 1 VAR_043339 Q9BYH1:p.Gln671His SP substitution exon 1 VAR_043340 Q96AH0:p.Thr154Ser SP substitution exon 1 VAR_043341 A6NKB5:p.Thr454Ala SP substitution exon 1 VAR_043342 Q7Z6J0:p.Pro663Ser SP substitution exon 1 VAR_043343 O60336:p.Tyr204Ser SP substitution exon 1 VAR_043344 O60336:p.Leu313Val SP substitution exon 1 VAR_043346 Q9BQI7:p.Arg31Gln SP substitution exon 1 VAR_043347 Q9BQI7:p.Arg51Met SP substitution exon 1 VAR_043348 Q9BQI7:p.Gly363Arg SP substitution exon 1 VAR_043349 P35498:p.Tyr84Cys SP substitution exon 1 VAR_043350 P35498:p.Arg118Ser SP substitution exon 1 VAR_043351 P35498:p.Thr226Met SP substitution exon 1 VAR_043352 P35498:p.Ala239Thr SP substitution exon 1 VAR_043353 P35498:p.Asp366Glu SP substitution exon 1 VAR_043354 P35498:p.Arg377Gln SP substitution exon 1 VAR_043355 P35498:p.Arg393Cys SP substitution exon 1 VAR_043356 P35498:p.Ala395Pro SP substitution exon 1 VAR_043357 P35498:p.Val422Glu SP substitution exon 1 VAR_043358 P35498:p.Ser626Gly SP substitution exon 1 VAR_043359 P35498:p.Met973Val SP substitution exon 1 VAR_043360 P35498:p.Leu1207Pro SP substitution exon 1 VAR_043361 P35498:p.Glu1238Asp SP substitution exon 1 VAR_043362 P35498:p.Val1335Met SP substitution exon 1 VAR_043363 P35498:p.Trp1358Ser SP substitution exon 1 VAR_043364 P35498:p.Val1366Ile SP substitution exon 1 VAR_043365 P35498:p.Tyr1462Cys SP substitution exon 1 VAR_043366 P35498:p.Gly1480Val SP substitution exon 1 VAR_043367 P35498:p.Phe1543Ser SP substitution exon 1 VAR_043368 P35498:p.Arg1596Cys SP substitution exon 1 VAR_043369 P35498:p.Arg1636Gln SP substitution exon 1 VAR_043370 P35498:p.Arg1657His SP substitution exon 1 VAR_043371 P35498:p.Arg1928Gly SP substitution exon 1 VAR_043372 Q9NQR9:p.Ile171Val SP substitution exon 1 VAR_043373 Q9NQR9:p.Tyr207Ser SP substitution exon 1 VAR_043374 Q9NQR9:p.Val219Leu SP substitution exon 1 VAR_043378 Q9BUM1:p.Thr216Ile SP substitution exon 1 VAR_043379 O14862:p.Cys304Tyr SP substitution exon 1 VAR_043380 Q12986:p.His731Tyr SP substitution exon 1 VAR_043381 Q12986:p.Pro760Ser SP substitution exon 1 VAR_043383 P40692:p.Ile19Phe SP substitution exon 1 VAR_043384 P40692:p.Ala21Val SP substitution exon 1 VAR_043385 P40692:p.Ile25Phe SP substitution exon 1 VAR_043386 P40692:p.Ala29Ser SP substitution exon 1 VAR_043387 P40692:p.Met35Lys SP substitution exon 1 VAR_043388 P40692:p.Met35Asn SP substitution exon 1 VAR_043389 P40692:p.Asn38His SP substitution exon 1 VAR_043390 P40692:p.Asp41Gly SP substitution exon 1 VAR_043392 P40692:p.Asp63Glu SP substitution exon 1 VAR_043394 P40692:p.Glu102Lys SP substitution exon 1 VAR_043395 P40692:p.Ser106Arg SP substitution exon 1 VAR_043396 P40692:p.His109Gln SP substitution exon 1 VAR_043397 P40692:p.Leu155Arg SP substitution exon 1 VAR_043398 P40692:p.Val185Leu SP substitution exon 1 VAR_043399 P40692:p.Glu234Gly SP substitution exon 1 VAR_043400 P40692:p.Ser247Pro SP substitution exon 1 VAR_043401 P40692:p.Leu260Arg SP substitution exon 1 VAR_043402 P40692:p.His264Tyr SP substitution exon 1 VAR_043403 P40692:p.Ala282Gly SP substitution exon 1 VAR_043404 P40692:p.Leu292Pro SP substitution exon 1 VAR_043405 P40692:p.Asp304Val SP substitution exon 1 VAR_043406 P40692:p.Ser321Ile SP substitution exon 1 VAR_043409 P40692:p.Asn338Ser SP substitution exon 1 VAR_043410 P40692:p.Arg385Cys SP substitution exon 1 VAR_043411 P40692:p.Arg385Pro SP substitution exon 1 VAR_043412 P40692:p.Lys443Gln SP substitution exon 1 VAR_043413 P40692:p.Arg472Ile SP substitution exon 1 VAR_043414 P40692:p.Arg474Gln SP substitution exon 1 VAR_043415 P40692:p.Asp485Glu SP substitution exon 1 VAR_043416 P40692:p.Asp485His SP substitution exon 1 VAR_043417 P40692:p.Gln542Pro SP substitution exon 1 VAR_043418 P40692:p.Leu550Pro SP substitution exon 1 VAR_043419 P40692:p.Ala589Asp SP substitution exon 1 VAR_043421 P40692:p.Asp601Gly SP substitution exon 1 VAR_043424 P40692:p.Lys618Arg SP substitution exon 1 VAR_043425 P40692:p.Ala623Pro SP substitution exon 1 VAR_043426 P40692:p.Asp631Ala SP substitution exon 1 VAR_043427 P40692:p.Asn635Lys SP substitution exon 1 VAR_043428 P40692:p.Leu636Pro SP substitution exon 1 VAR_043429 P40692:p.Pro640Ser SP substitution exon 1 VAR_043430 P40692:p.Tyr646Cys SP substitution exon 1 VAR_043431 P40692:p.Pro654Leu SP substitution exon 1 VAR_043432 P40692:p.Ile655Val SP substitution exon 1 VAR_043434 P40692:p.Arg659Gln SP substitution exon 1 VAR_043439 A8K8P3:p.His13Leu SP substitution exon 1 VAR_043440 A8K8P3:p.Arg72His SP substitution exon 1 VAR_043441 A8K8P3:p.Gln167His SP substitution exon 1 VAR_043442 A8K8P3:p.Tyr322His SP substitution exon 1 VAR_043443 A8K8P3:p.Trp330Arg SP substitution exon 1 VAR_043444 A8K8P3:p.Arg549Gln SP substitution exon 1 VAR_043445 A8K8P3:p.Leu1087Pro SP substitution exon 1 VAR_043446 Q5VV63:p.Ser989Asn SP substitution exon 1 VAR_043447 Q5TGJ6:p.Thr87Met SP substitution exon 1 VAR_043450 Q5T953:p.Pro105Ser SP substitution exon 1 VAR_043451 B1AK53:p.Arg322His SP substitution exon 1 VAR_043452 B1AK53:p.Tyr323Cys SP substitution exon 1 VAR_043453 B1AK53:p.Ser719Arg SP substitution exon 1 VAR_043454 B1AK53:p.Asp744Asn SP substitution exon 1 VAR_043455 B1AK53:p.Arg774Gln SP substitution exon 1 VAR_043463 A6NFU8:p.Ala142Val SP substitution exon 1 VAR_043464 A6NFU8:p.Glu169Gln SP substitution exon 1 VAR_043465 Q6IPT2:p.Ser206Ile SP substitution exon 1 VAR_043466 Q5FWF7:p.Thr16Ile SP substitution exon 1 VAR_043467 A4D1B5:p.His47Arg SP substitution exon 1 VAR_043468 A4D1B5:p.Gly305Glu SP substitution exon 1 VAR_043469 A4D1B5:p.Val649Ile SP substitution exon 1 VAR_043470 A4D1B5:p.Trp653Leu SP substitution exon 1 VAR_043471 Q6ZMN8:p.Ala91Pro SP substitution exon 1 VAR_043473 Q96NL0:p.Leu47Met SP substitution exon 1 VAR_043474 Q96NL0:p.Glu206Gly SP substitution exon 1 VAR_043475 Q96NL0:p.Leu440Pro SP substitution exon 1 VAR_043476 Q8NCQ7:p.Asp245Ala SP substitution exon 1 VAR_043478 Q09MP3:p.Val876Leu SP substitution exon 1 VAR_043479 Q09MP3:p.Arg976His SP substitution exon 1 VAR_043480 Q09MP3:p.Gly1037Asp SP substitution exon 1 VAR_043481 Q6ZNQ3:p.Thr64Ile SP substitution exon 1 VAR_043482 Q008S8:p.Glu527Lys SP substitution exon 1 VAR_043483 Q008S8:p.Ala594Thr SP substitution exon 1 VAR_043484 P42263:p.Arg450Gln SP substitution exon 1 VAR_043485 P42263:p.Arg631Ser SP substitution exon 1 VAR_043486 P42263:p.Met706Thr SP substitution exon 1 VAR_043487 P42263:p.Gly833Arg SP substitution exon 1 VAR_043493 O76090:p.Pro152Ala SP substitution exon 1 VAR_043494 O76090:p.Val317Met SP substitution exon 1 VAR_043495 O76090:p.Met325Thr SP substitution exon 1 VAR_043496 O76090:p.Ala357Val SP substitution exon 1 VAR_043497 P56705:p.Leu12Pro SP substitution exon 1 VAR_043498 P56705:p.Arg83Cys SP substitution exon 1 VAR_043499 P56705:p.Ala114Val SP substitution exon 1 VAR_043500 P22314:p.Arg447His SP substitution exon 1 VAR_043501 P22314:p.Met539Ile SP substitution exon 1 VAR_043502 P22314:p.Ser547Gly SP substitution exon 1 VAR_043509 O60928:p.Arg162Trp SP substitution exon 1 VAR_043510 O60928:p.Pro290Gln SP substitution exon 1 VAR_043511 O60928:p.Gly309Cys SP substitution exon 1 VAR_043512 Q99650:p.His187Gln SP substitution exon 1 VAR_043513 Q99650:p.Gly618Ala SP substitution exon 1 VAR_043514 Q99650:p.Ile691Thr SP substitution exon 1 VAR_043515 Q99650:p.Pro959Arg SP substitution exon 1 VAR_043516 Q99895:p.Asp35His SP substitution exon 1 VAR_043517 Q99895:p.Asp35Asn SP substitution exon 1 VAR_043518 Q99895:p.Arg37Gln SP substitution exon 1 VAR_043519 Q99895:p.Gln48Arg SP substitution exon 1 VAR_043520 Q99895:p.Ala73Thr SP substitution exon 1 VAR_043521 Q99895:p.Lys172Glu SP substitution exon 1 VAR_043522 Q99895:p.Gly217Arg SP substitution exon 1 VAR_043523 Q99895:p.Gly217Ser SP substitution exon 1 VAR_043524 Q99895:p.Gly218Ser SP substitution exon 1 VAR_043525 Q99895:p.Leu220Arg SP substitution exon 1 VAR_043526 Q99895:p.Glu225Ala SP substitution exon 1 VAR_043527 Q99895:p.Val235Ile SP substitution exon 1 VAR_043531 P12644:p.Ser91Cys SP substitution exon 1 VAR_043532 P12644:p.Glu93Gly SP substitution exon 1 VAR_043533 P12644:p.Thr116Ser SP substitution exon 1 VAR_043534 P12644:p.Asn150Lys SP substitution exon 1 VAR_043535 P12644:p.Thr225Ala SP substitution exon 1 VAR_043536 P12644:p.Arg226Trp SP substitution exon 1 VAR_043537 P12644:p.Ser367Thr SP substitution exon 1 VAR_043538 Q9NQ92:p.Ser43Gly SP substitution exon 1 VAR_043539 Q6PF05:p.His22Arg SP substitution exon 1 VAR_043540 Q6PF05:p.Lys67Glu SP substitution exon 1 VAR_043541 Q6PF05:p.Thr150Met SP substitution exon 1 VAR_043542 Q6PF05:p.Asn153Asp SP substitution exon 1 VAR_043543 Q6PF05:p.Lys247Asn SP substitution exon 1 VAR_043544 Q6PF05:p.Arg325Lys SP substitution exon 1 VAR_043545 Q6NT89:p.Trp27Arg SP substitution exon 1 VAR_043546 A4QMS7:p.Gln68His SP substitution exon 1 VAR_043547 A4QMS7:p.Glu87Lys SP substitution exon 1 VAR_043548 A4QMS7:p.Pro139Ser SP substitution exon 1 VAR_043549 Q3MIP1:p.Cys237Ser SP substitution exon 1 VAR_043550 Q3MIP1:p.Pro522Ser SP substitution exon 1 VAR_043555 Q6ZNW5:p.Met37Thr SP substitution exon 1 VAR_043556 Q6ZNW5:p.Pro264Thr SP substitution exon 1 VAR_043557 Q6ZNW5:p.Thr307Ile SP substitution exon 1 VAR_043558 A2RU48:p.Cys49Arg SP substitution exon 1 VAR_043559 A2RU48:p.Lys75Arg SP substitution exon 1 VAR_043560 A2RUU4:p.Phe15Ser SP substitution exon 1 VAR_043561 Q5T1H1:p.Leu852Pro SP substitution exon 1 VAR_043562 Q08AG7:p.Ser5Gly SP substitution exon 1 VAR_043563 Q86UD7:p.Ala206Val SP substitution exon 1 VAR_043564 Q8IW45:p.Lys140Glu SP substitution exon 1 VAR_043565 Q8IW45:p.Val149Ile SP substitution exon 1 VAR_043566 Q8IW45:p.Pro152Thr SP substitution exon 1 VAR_043567 A4D2B0:p.Pro79His SP substitution exon 1 VAR_043568 A4D2B0:p.His114Asn SP substitution exon 1 VAR_043570 Q4LEZ3:p.Gly96Arg SP substitution exon 1 VAR_043571 Q502W6:p.Arg181Trp SP substitution exon 1 VAR_043572 Q502W6:p.Leu677Val SP substitution exon 1 VAR_043573 Q502W6:p.Val885Met SP substitution exon 1 VAR_043577 Q6IPT4:p.Arg47Lys SP substitution exon 1 VAR_043578 P05060:p.Ser93Thr SP substitution exon 1 VAR_043579 A1IGU5:p.Met421Leu SP substitution exon 1 VAR_043580 A1IGU5:p.Pro489Leu SP substitution exon 1 VAR_043581 A1IGU5:p.Ser518Arg SP substitution exon 1 VAR_043582 A1IGU5:p.Pro586Thr SP substitution exon 1 VAR_043583 A1IGU5:p.Met604Val SP substitution exon 1 VAR_043584 Q9C099:p.His69Gln SP substitution exon 1 VAR_043585 Q9C099:p.Thr210Ala SP substitution exon 1 VAR_043587 Q86YR7:p.Thr159Met SP substitution exon 1 VAR_043588 Q86YR7:p.Leu254Pro SP substitution exon 1 VAR_043589 Q86YR7:p.Asn277Ser SP substitution exon 1 VAR_043590 Q86YR7:p.Ile359Leu SP substitution exon 1 VAR_043591 Q86YR7:p.Gln378Leu SP substitution exon 1 VAR_043592 Q86YR7:p.Phe589Ser SP substitution exon 1 VAR_043593 Q86YR7:p.Arg622His SP substitution exon 1 VAR_043594 Q86YR7:p.Phe772Leu SP substitution exon 1 VAR_043595 Q86YR7:p.Thr902Ala SP substitution exon 1 VAR_043596 Q86YR7:p.Met1015Thr SP substitution exon 1 VAR_043597 Q86YR7:p.Leu1039Phe SP substitution exon 1 VAR_043598 A4FU01:p.Met159Val SP substitution exon 1 VAR_043599 A4FU01:p.Gln531Pro SP substitution exon 1 VAR_043600 Q5HYI7:p.Ser238Arg SP substitution exon 1 VAR_043601 Q7Z3S9:p.Ser67Pro SP substitution exon 1 VAR_043602 Q7Z3S9:p.Thr158Ile SP substitution exon 1 VAR_043603 Q7Z3S9:p.Thr196Ser SP substitution exon 1 VAR_043604 Q7Z3S9:p.Glu226Gln SP substitution exon 1 VAR_043605 Q8NAA4:p.Arg220Trp SP substitution exon 1 VAR_043606 Q6P461:p.Lys227Arg SP substitution exon 1 VAR_043609 A6NMZ7:p.Glu345Lys SP substitution exon 1 VAR_043610 A6NMZ7:p.Ala370Thr SP substitution exon 1 VAR_043611 A6NMZ7:p.Glu461Ala SP substitution exon 1 VAR_043612 A6NMZ7:p.Arg1739Gln SP substitution exon 1 VAR_043613 A6NMZ7:p.His1799Arg SP substitution exon 1 VAR_043614 Q4VNC0:p.Glu133Gln SP substitution exon 1 VAR_043615 Q4VNC0:p.Gly739Ser SP substitution exon 1 VAR_043616 Q4VNC0:p.Ile1053Val SP substitution exon 1 VAR_043617 Q4VNC0:p.Val1131Ala SP substitution exon 1 VAR_043618 Q4VNC0:p.Lys1204Gln SP substitution exon 1 VAR_043619 A4FU49:p.Ser217Ala SP substitution exon 1 VAR_043620 Q8N635:p.Ile261Thr SP substitution exon 1 VAR_043621 Q8IZS5:p.Ser21Leu SP substitution exon 1 VAR_043622 Q8IZS5:p.Arg123Gln SP substitution exon 1 VAR_043623 Q8IZS5:p.Thr145Ile SP substitution exon 1 VAR_043624 Q6DKI7:p.Asn81Asp SP substitution exon 1 VAR_043668 Q8TCY9:p.Met779Leu SP substitution exon 1 VAR_043669 Q8N228:p.Arg126Gln SP substitution exon 1 VAR_043670 Q6AI08:p.Ala71Val SP substitution exon 1 VAR_043672 Q6S5L8:p.Asn52Asp SP substitution exon 1 VAR_043673 Q6S5L8:p.Lys244Glu SP substitution exon 1 VAR_043676 Q8NHP7:p.Thr489Ala SP substitution exon 1 VAR_043677 Q5T036:p.Leu22Phe SP substitution exon 1 VAR_043678 Q5T036:p.Lys241Glu SP substitution exon 1 VAR_043679 Q96P20:p.Ile174Thr SP substitution exon 1 VAR_043680 Q96P20:p.Arg262Leu SP substitution exon 1 VAR_043681 Q96P20:p.Arg262Pro SP substitution exon 1 VAR_043682 Q96P20:p.Leu266His SP substitution exon 1 VAR_043683 Q96P20:p.Asp305Gly SP substitution exon 1 VAR_043684 Q96P20:p.Gln308Leu SP substitution exon 1 VAR_043685 Q96P20:p.Leu355Pro SP substitution exon 1 VAR_043686 Q96P20:p.Glu356Asp SP substitution exon 1 VAR_043687 Q96P20:p.Thr407Pro SP substitution exon 1 VAR_043688 Q96P20:p.Thr438Ile SP substitution exon 1 VAR_043689 Q96P20:p.Arg490Lys SP substitution exon 1 VAR_043690 Q96P20:p.Phe525Leu SP substitution exon 1 VAR_043691 Q96P20:p.Tyr572Cys SP substitution exon 1 VAR_043692 Q96P20:p.Leu634Phe SP substitution exon 1 VAR_043693 Q96P20:p.Gln705Lys SP substitution exon 1 VAR_043694 P56539:p.Val14Leu SP substitution exon 1 VAR_043695 P56539:p.Thr78Met SP substitution exon 1 VAR_043696 P56539:p.Leu79Arg SP substitution exon 1 VAR_043697 P56539:p.Ala85Thr SP substitution exon 1 VAR_043698 P56539:p.Phe97Cys SP substitution exon 1 VAR_043699 P56539:p.Ser141Arg SP substitution exon 1 VAR_043700 Q04671:p.Asn476Asp SP substitution exon 1 VAR_043701 Q04671:p.Gly775Arg SP substitution exon 1 VAR_043702 Q04671:p.Tyr827His SP substitution exon 1 VAR_043703 Q1EHB4:p.Val510Leu SP substitution exon 1 VAR_043704 Q8IWF2:p.Phe179Leu SP substitution exon 1 VAR_043705 Q8IWF2:p.Asn308Ser SP substitution exon 1 VAR_043706 Q8IWF2:p.Lys374Arg SP substitution exon 1 VAR_043707 Q8IWF2:p.Glu637Asp SP substitution exon 1 VAR_043713 Q9Y5Z9:p.Ser75Phe SP substitution exon 1 VAR_043714 Q9Y5Z9:p.Asn102Ser SP substitution exon 1 VAR_043715 Q9Y5Z9:p.Asp112Gly SP substitution exon 1 VAR_043716 Q9Y5Z9:p.Asp118Gly SP substitution exon 1 VAR_043717 Q9Y5Z9:p.Arg119Gly SP substitution exon 1 VAR_043718 Q9Y5Z9:p.Leu121Phe SP substitution exon 1 VAR_043719 Q9Y5Z9:p.Ser171Pro SP substitution exon 1 VAR_043720 Q9Y5Z9:p.Thr175Ile SP substitution exon 1 VAR_043721 Q9Y5Z9:p.Gly177Arg SP substitution exon 1 VAR_043722 Q9Y5Z9:p.Gly186Arg SP substitution exon 1 VAR_043723 Q9Y5Z9:p.Asn232Ser SP substitution exon 1 VAR_043724 Q9Y5Z9:p.Asp236Glu SP substitution exon 1 VAR_043725 Q9NPE3:p.Arg34Trp SP substitution exon 1 VAR_043726 Q53G44:p.Met390Ile SP substitution exon 1 VAR_043727 A6NED2:p.Ala8Ser SP substitution exon 1 VAR_043729 A6NGB9:p.Glu321Gly SP substitution exon 1 VAR_043736 P43246:p.Ser13Ile SP substitution exon 1 VAR_043737 P43246:p.Val17Phe SP substitution exon 1 VAR_043738 P43246:p.Thr33Pro SP substitution exon 1 VAR_043739 P43246:p.Gly40Ser SP substitution exon 1 VAR_043740 P43246:p.Thr44Met SP substitution exon 1 VAR_043741 P43246:p.Ala45Val SP substitution exon 1 VAR_043743 P43246:p.Leu93Phe SP substitution exon 1 VAR_043744 P43246:p.Tyr98Cys SP substitution exon 1 VAR_043745 P43246:p.Val102Ile SP substitution exon 1 VAR_043746 P43246:p.Lys110Thr SP substitution exon 1 VAR_043747 P43246:p.Gly162Arg SP substitution exon 1 VAR_043748 P43246:p.Val163Asp SP substitution exon 1 VAR_043749 P43246:p.Gly164Arg SP substitution exon 1 VAR_043750 P43246:p.Ile169Val SP substitution exon 1 VAR_043751 P43246:p.Leu173Pro SP substitution exon 1 VAR_043752 P43246:p.Leu175Pro SP substitution exon 1 VAR_043753 P43246:p.Leu187Pro SP substitution exon 1 VAR_043754 P43246:p.Gly203Arg SP substitution exon 1 VAR_043755 P43246:p.Lys246Gln SP substitution exon 1 VAR_043756 P43246:p.Ala272Val SP substitution exon 1 VAR_043757 P43246:p.Asp283Tyr SP substitution exon 1 VAR_043758 P43246:p.Ser323Tyr SP substitution exon 1 VAR_043759 P43246:p.Cys333Tyr SP substitution exon 1 VAR_043760 P43246:p.Thr335Ile SP substitution exon 1 VAR_043761 P43246:p.Pro336Ser SP substitution exon 1 VAR_043762 P43246:p.Val342Ile SP substitution exon 1 VAR_043763 P43246:p.Pro349Leu SP substitution exon 1 VAR_043764 P43246:p.Arg359Ser SP substitution exon 1 VAR_043765 P43246:p.Lys393Met SP substitution exon 1 VAR_043767 P43246:p.Met492Val SP substitution exon 1 VAR_043768 P43246:p.Thr552Pro SP substitution exon 1 VAR_043769 P43246:p.Thr564Ala SP substitution exon 1 VAR_043770 P43246:p.Asn583Ser SP substitution exon 1 VAR_043771 P43246:p.Ala600Val SP substitution exon 1 VAR_043772 P43246:p.Asp603Asn SP substitution exon 1 VAR_043773 P43246:p.Tyr619Cys SP substitution exon 1 VAR_043774 P43246:p.Gln629Arg SP substitution exon 1 VAR_043775 P43246:p.His639Arg SP substitution exon 1 VAR_043776 P43246:p.Glu647Lys SP substitution exon 1 VAR_043777 P43246:p.Tyr656His SP substitution exon 1 VAR_043778 P43246:p.Asn671Tyr SP substitution exon 1 VAR_043779 P43246:p.Ile679Thr SP substitution exon 1 VAR_043780 P43246:p.Ala714Val SP substitution exon 1 VAR_043781 P43246:p.Ser723Phe SP substitution exon 1 VAR_043782 P43246:p.Met729Val SP substitution exon 1 VAR_043783 P43246:p.Thr732Ile SP substitution exon 1 VAR_043796 Q8NHC5:p.Ile238Thr SP substitution exon 1 VAR_043797 Q96RR1:p.Tyr508Cys SP substitution exon 1 VAR_043813 Q8IZD6:p.Pro349Gln SP substitution exon 1 VAR_043814 Q5JXA9:p.Gly153Glu SP substitution exon 1 VAR_043815 Q5JXA9:p.Glu215Ala SP substitution exon 1 VAR_043816 Q5JXA9:p.Leu304Phe SP substitution exon 1 VAR_043818 Q1L6U9:p.Gly116Val SP substitution exon 1 VAR_043819 O43526:p.Arg207Gln SP substitution exon 1 VAR_043820 O00555:p.Arg195Lys SP substitution exon 1 VAR_043821 O00555:p.Ser218Leu SP substitution exon 1 VAR_043822 O00555:p.His253Tyr SP substitution exon 1 VAR_043823 O00555:p.Cys256Arg SP substitution exon 1 VAR_043824 O00555:p.Cys287Tyr SP substitution exon 1 VAR_043825 O00555:p.Gly293Arg SP substitution exon 1 VAR_043826 O00555:p.Arg583Gln SP substitution exon 1 VAR_043827 O00555:p.Asp715Glu SP substitution exon 1 VAR_043828 O00555:p.Glu993Val SP substitution exon 1 VAR_043829 O00555:p.Lys1335Glu SP substitution exon 1 VAR_043830 O00555:p.Arg1346Gln SP substitution exon 1 VAR_043831 O00555:p.Tyr1384Cys SP substitution exon 1 VAR_043832 O00555:p.Phe1403Cys SP substitution exon 1 VAR_043833 O00555:p.Val1456Leu SP substitution exon 1 VAR_043834 O00555:p.Gly1482Arg SP substitution exon 1 VAR_043835 O00555:p.Phe1490Ser SP substitution exon 1 VAR_043836 O00555:p.Val1493Ile SP substitution exon 1 VAR_043837 O00555:p.Arg1661His SP substitution exon 1 VAR_043838 O00555:p.Arg1667Trp SP substitution exon 1 VAR_043839 O00555:p.Trp1683Arg SP substitution exon 1 VAR_043840 O00555:p.His1736Leu SP substitution exon 1 VAR_043841 O00555:p.Glu1756Lys SP substitution exon 1 VAR_043842 O00555:p.Arg2135Cys SP substitution exon 1 VAR_043844 Q9H3L0:p.Thr182Asn SP substitution exon 1 VAR_043846 Q9H3L0:p.Tyr249Cys SP substitution exon 1 VAR_043847 Q9H3L0:p.Leu259Pro SP substitution exon 1 VAR_043848 A8K979:p.Ile206Thr SP substitution exon 1 VAR_043849 Q9NWW0:p.Pro92Gln SP substitution exon 1 VAR_043850 Q00G26:p.Ala6Val SP substitution exon 1 VAR_043851 Q00G26:p.Cys255Arg SP substitution exon 1 VAR_043852 Q00G26:p.Arg306Trp SP substitution exon 1 VAR_043853 Q6NZ67:p.Ala118Val SP substitution exon 1 VAR_043854 Q6NZ67:p.Arg155Gln SP substitution exon 1 VAR_043855 Q8NG08:p.Glu172Lys SP substitution exon 1 VAR_043856 Q8NG08:p.Leu191Pro SP substitution exon 1 VAR_043857 Q8NG08:p.Leu267Phe SP substitution exon 1 VAR_043858 Q8NG08:p.Pro966Leu SP substitution exon 1 VAR_043859 Q8NG08:p.Thr980Ile SP substitution exon 1 VAR_043860 Q86Y33:p.Thr8Pro SP substitution exon 1 VAR_043861 Q86Y33:p.Glu17Lys SP substitution exon 1 VAR_043862 Q86Y33:p.Thr97Ser SP substitution exon 1 VAR_043863 Q86Y33:p.Arg121Cys SP substitution exon 1 VAR_043864 Q86Y33:p.Ser496Ala SP substitution exon 1 VAR_043865 Q86Y33:p.Arg503Trp SP substitution exon 1 VAR_043866 Q96HJ3:p.Pro53Ser SP substitution exon 1 VAR_043867 Q96HJ3:p.Glu264Ala SP substitution exon 1 VAR_043868 Q96HJ3:p.Ile319Val SP substitution exon 1 VAR_043870 P11215:p.Arg77His SP substitution exon 1 VAR_043871 P11215:p.Met441Thr SP substitution exon 1 VAR_043872 P11215:p.Ala858Val SP substitution exon 1 VAR_043873 P11215:p.Pro1146Ser SP substitution exon 1 VAR_043878 O95613:p.Thr539Ile SP substitution exon 1 VAR_043879 O95613:p.Gly704Glu SP substitution exon 1 VAR_043880 O95613:p.Thr879Ala SP substitution exon 1 VAR_043881 O95613:p.Val1038Ala SP substitution exon 1 VAR_043882 O95613:p.Arg1163Cys SP substitution exon 1 VAR_043883 O95613:p.Ala1194Thr SP substitution exon 1 VAR_043884 O95613:p.Ile1639Val SP substitution exon 1 VAR_043885 O95613:p.Asn1841Ser SP substitution exon 1 VAR_043886 O95613:p.Arg1953His SP substitution exon 1 VAR_043887 O95613:p.Arg1960Gln SP substitution exon 1 VAR_043888 O95613:p.Leu2097Pro SP substitution exon 1 VAR_043889 O95613:p.His2125Pro SP substitution exon 1 VAR_043890 O95613:p.Met2188Arg SP substitution exon 1 VAR_043891 O95613:p.Ser2191Pro SP substitution exon 1 VAR_043892 P08603:p.Thr493Arg SP substitution exon 1 VAR_043893 P08603:p.Arg567Gly SP substitution exon 1 VAR_043894 P08603:p.Val1007Leu SP substitution exon 1 VAR_043895 P08603:p.Arg1078Ser SP substitution exon 1 VAR_043896 P08603:p.Gln1143Glu SP substitution exon 1 VAR_043897 Q13702:p.Gln8Lys SP substitution exon 1 VAR_043898 Q13702:p.Val45Met SP substitution exon 1 VAR_043899 Q13702:p.Phe139Ser SP substitution exon 1 VAR_043900 Q13702:p.Glu162Lys SP substitution exon 1 VAR_043901 Q13702:p.Arg164Cys SP substitution exon 1 VAR_043902 Q13702:p.Ala189Val SP substitution exon 1 VAR_043903 Q13702:p.Leu283Pro SP substitution exon 1 VAR_043904 P02708:p.Arg254Leu SP substitution exon 1 VAR_043905 Q07001:p.Phe95Leu SP substitution exon 1 VAR_043906 Q969F8:p.Leu102Pro SP substitution exon 1 VAR_043907 Q969F8:p.Arg386Pro SP substitution exon 1 VAR_043908 O00170:p.Arg16His SP substitution exon 1 VAR_043909 O00170:p.Gln228Lys SP substitution exon 1 VAR_043910 O00170:p.Lys241Glu SP substitution exon 1 VAR_043912 O00170:p.Arg271Trp SP substitution exon 1 VAR_043913 O00170:p.Arg304Gln SP substitution exon 1 VAR_043914 Q9BSI4:p.Lys280Glu SP substitution exon 1 VAR_043915 Q9BSI4:p.Arg282His SP substitution exon 1 VAR_043916 Q9BSI4:p.Arg282Ser SP substitution exon 1 VAR_043924 Q96KC9:p.Lys76Gln SP substitution exon 1 VAR_043925 Q96KC9:p.Thr211Ile SP substitution exon 1 VAR_043926 Q96KC9:p.Trp298Gly SP substitution exon 1 VAR_043927 Q6MZM9:p.Ile44Leu SP substitution exon 1 VAR_043928 Q6MZM9:p.Arg91Cys SP substitution exon 1 VAR_043932 Q9NRC1:p.Ala186Thr SP substitution exon 1 VAR_043933 Q9NRC1:p.Ile361Val SP substitution exon 1 VAR_043938 Q8N2B8:p.Arg127Gln SP substitution exon 1 VAR_043939 Q8N398:p.Pro211Ser SP substitution exon 1 VAR_043940 Q2M2E5:p.Ala57Thr SP substitution exon 1 VAR_043941 Q2M2E5:p.Arg101Trp SP substitution exon 1 VAR_043942 Q9H7B7:p.Lys32Glu SP substitution exon 1 VAR_043943 P52701:p.Ala20Val SP substitution exon 1 VAR_043944 P52701:p.Gly54Ala SP substitution exon 1 VAR_043945 P52701:p.Lys99Asn SP substitution exon 1 VAR_043946 P52701:p.Arg128Leu SP substitution exon 1 VAR_043947 P52701:p.Lys295Arg SP substitution exon 1 VAR_043948 P52701:p.Phe340Ser SP substitution exon 1 VAR_043949 P52701:p.Leu449Pro SP substitution exon 1 VAR_043950 P52701:p.Val509Ala SP substitution exon 1 VAR_043951 P52701:p.Gln522Arg SP substitution exon 1 VAR_043952 P52701:p.Glu619Asp SP substitution exon 1 VAR_043953 P52701:p.Pro623Leu SP substitution exon 1 VAR_043954 P52701:p.Gly685Ala SP substitution exon 1 VAR_043955 P52701:p.Ile725Met SP substitution exon 1 VAR_043956 P52701:p.Lys728Thr SP substitution exon 1 VAR_043957 P52701:p.Arg772Gln SP substitution exon 1 VAR_043958 P52701:p.Arg772Trp SP substitution exon 1 VAR_043959 P52701:p.Ala787Val SP substitution exon 1 VAR_043960 P52701:p.Val800Ala SP substitution exon 1 VAR_043961 P52701:p.Lys854Met SP substitution exon 1 VAR_043962 P52701:p.Arg901His SP substitution exon 1 VAR_043963 P52701:p.Ala1021Asp SP substitution exon 1 VAR_043964 P52701:p.Asp1031Val SP substitution exon 1 VAR_043976 A8MTB9:p.Leu221His SP substitution exon 1 VAR_043977 A8MTB9:p.Thr222Ala SP substitution exon 1 VAR_043978 P0C7L1:p.Lys78Asn SP substitution exon 1 VAR_043979 A6NER3:p.Arg28Gln SP substitution exon 1 VAR_043980 Q13017:p.Ile17Val SP substitution exon 1 VAR_043981 Q13351:p.Ser102Pro SP substitution exon 1 VAR_043982 Q13351:p.Phe182Leu SP substitution exon 1 VAR_043986 P09493:p.Glu40Lys SP substitution exon 1 VAR_043987 P09493:p.Glu54Lys SP substitution exon 1 VAR_043988 P63316:p.Gly159Arg SP substitution exon 1 VAR_043989 P19429:p.Ala2Val SP substitution exon 1 VAR_043990 Q8WVB6:p.Ser63Phe SP substitution exon 1 VAR_043991 Q8WVB6:p.Gln82Pro SP substitution exon 1 VAR_043992 Q8WVB6:p.Lys244Arg SP substitution exon 1 VAR_043993 Q8WVB6:p.Ala466Ser SP substitution exon 1 VAR_044006 Q96CC6:p.Arg265Trp SP substitution exon 1 VAR_044011 Q86X60:p.Gly82Val SP substitution exon 1 VAR_044012 Q86X60:p.Pro94Leu SP substitution exon 1 VAR_044013 B0I1T2:p.Val49Met SP substitution exon 1 VAR_044014 B0I1T2:p.Met489Thr SP substitution exon 1 VAR_044016 Q0D2K5:p.Gly59Asp SP substitution exon 1 VAR_044018 Q9NZC3:p.Arg218Gln SP substitution exon 1 VAR_044020 P04637:p.Met246Leu SP substitution exon 1 VAR_044021 A8MV23:p.Asp143Asn SP substitution exon 1 VAR_044022 A8MV24:p.Pro61Leu SP substitution exon 1 VAR_044023 Q8NAA6:p.Leu3Val SP substitution exon 1 VAR_044024 Q8NAA6:p.Ala39Val SP substitution exon 1 VAR_044025 Q96MZ4:p.His54Arg SP substitution exon 1 VAR_044032 A6NDU8:p.Gln20His SP substitution exon 1 VAR_044034 Q9HBF5:p.Pro57Leu SP substitution exon 1 VAR_044035 Q6ZUJ8:p.Glu21Lys SP substitution exon 1 VAR_044036 Q6ZUJ8:p.Ala83Ser SP substitution exon 1 VAR_044037 Q6ZUJ8:p.Glu551Lys SP substitution exon 1 VAR_044039 Q13936:p.Ala39Val SP substitution exon 1 VAR_044040 Q13936:p.Gly490Arg SP substitution exon 1 VAR_044041 Q08289:p.Ser535Leu SP substitution exon 1 VAR_044042 Q96J86:p.Arg95His SP substitution exon 1 VAR_044043 Q96J86:p.Pro111Ser SP substitution exon 1 VAR_044044 Q8N335:p.Glu83Lys SP substitution exon 1 VAR_044045 Q8N335:p.Ile124Val SP substitution exon 1 VAR_044046 Q8N335:p.Arg273Cys SP substitution exon 1 VAR_044047 Q8N335:p.Ala280Val SP substitution exon 1 VAR_044048 Q53EL9:p.Val300Met SP substitution exon 1 VAR_044049 Q53EL9:p.Ala330Val SP substitution exon 1 VAR_044050 Q53EL9:p.Thr546Ala SP substitution exon 1 VAR_044051 Q53EL9:p.Val592Ala SP substitution exon 1 VAR_044052 Q53EL9:p.Tyr736Asn SP substitution exon 1 VAR_044053 Q53EL9:p.Leu756Val SP substitution exon 1 VAR_044054 Q53EL9:p.Met806Thr SP substitution exon 1 VAR_044055 Q5SYE7:p.Val1085Met SP substitution exon 1 VAR_044056 Q5SYE7:p.Gly1585Ser SP substitution exon 1 VAR_044057 Q5HYW2:p.Thr535Ile SP substitution exon 1 VAR_044058 Q6NVV7:p.Val5Ala SP substitution exon 1 VAR_044059 Q16548:p.Glu117Asp SP substitution exon 1 VAR_044060 Q96KV7:p.Ser165Thr SP substitution exon 1 VAR_044061 Q96KV7:p.Pro250Leu SP substitution exon 1 VAR_044062 Q96KV7:p.Val537Ala SP substitution exon 1 VAR_044063 Q96KV7:p.Pro1001Thr SP substitution exon 1 VAR_044066 Q6ZSZ5:p.Gln701Arg SP substitution exon 1 VAR_044067 Q6ZSZ5:p.Arg752Gln SP substitution exon 1 VAR_044082 Q5D1E8:p.Gly547Asp SP substitution exon 1 VAR_044083 Q5QJ38:p.Ala193Gly SP substitution exon 1 VAR_044084 Q9H019:p.Pro58Ser SP substitution exon 1 VAR_044086 Q92736:p.Pro164Ser SP substitution exon 1 VAR_044087 Q92736:p.Arg176Gln SP substitution exon 1 VAR_044088 Q92736:p.Arg414Leu SP substitution exon 1 VAR_044089 Q92736:p.Ile419Phe SP substitution exon 1 VAR_044090 Q92736:p.Arg420Trp SP substitution exon 1 VAR_044091 Q92736:p.Val507Ile SP substitution exon 1 VAR_044092 Q92736:p.Glu2311Asp SP substitution exon 1 VAR_044093 Q92736:p.Ala2387Pro SP substitution exon 1 VAR_044094 Q92736:p.Tyr2392Cys SP substitution exon 1 VAR_044095 Q92736:p.Ala2403Thr SP substitution exon 1 VAR_044096 Q92736:p.Thr2504Met SP substitution exon 1 VAR_044097 Q92736:p.Leu3778Phe SP substitution exon 1 VAR_044098 Q92736:p.Gly3946Ser SP substitution exon 1 VAR_044099 Q92736:p.Asn4097Ser SP substitution exon 1 VAR_044100 Q92736:p.Glu4146Lys SP substitution exon 1 VAR_044101 Q92736:p.Thr4158Pro SP substitution exon 1 VAR_044102 Q92736:p.Phe4499Cys SP substitution exon 1 VAR_044103 Q92736:p.Met4504Ile SP substitution exon 1 VAR_044104 Q92736:p.Ala4510Thr SP substitution exon 1 VAR_044105 Q92736:p.Ala4607Pro SP substitution exon 1 VAR_044106 Q92736:p.Gly4671Arg SP substitution exon 1 VAR_044107 Q92736:p.Val4771Ile SP substitution exon 1 VAR_044108 Q92736:p.Ile4848Val SP substitution exon 1 VAR_044109 Q92736:p.Ala4860Gly SP substitution exon 1 VAR_044110 Q92736:p.Ile4867Met SP substitution exon 1 VAR_044111 Q92736:p.Val4880Ala SP substitution exon 1 VAR_044112 Q92736:p.Asn4895Asp SP substitution exon 1 VAR_044113 Q92736:p.Glu4950Lys SP substitution exon 1 VAR_044116 Q16570:p.Leu203Gln SP substitution exon 1 VAR_044117 Q16570:p.Ser326Phe SP substitution exon 1 VAR_044118 O14958:p.Leu167His SP substitution exon 1 VAR_044119 Q9Y283:p.Ser242Leu SP substitution exon 1 VAR_044121 Q7Z494:p.Arg973Gln SP substitution exon 1 VAR_044122 Q7Z494:p.Arg1305Cys SP substitution exon 1 VAR_044124 P49917:p.Glu461Gly SP substitution exon 1 VAR_044125 Q6PJF5:p.Pro208Leu SP substitution exon 1 VAR_044126 Q6PJF5:p.Ala249Thr SP substitution exon 1 VAR_044127 Q6PJF5:p.Asp528Tyr SP substitution exon 1 VAR_044128 Q9H8W5:p.Arg353Gln SP substitution exon 1 VAR_044129 Q8ND71:p.Ile301Thr SP substitution exon 1 VAR_044130 Q96JE7:p.His292Arg SP substitution exon 1 VAR_044135 Q2KHR2:p.Gly434Val SP substitution exon 1 VAR_044136 Q2KHR2:p.Val677Leu SP substitution exon 1 VAR_044137 Q2KHR2:p.Leu1256Pro SP substitution exon 1 VAR_044138 P30542:p.Ala43Ser SP substitution exon 1 VAR_044139 P30542:p.Ser50Pro SP substitution exon 1 VAR_044140 P30542:p.Arg105His SP substitution exon 1 VAR_044141 P30542:p.Pro261Gln SP substitution exon 1 VAR_044142 P04075:p.Glu207Lys SP substitution exon 1 VAR_044143 P04075:p.Cys339Tyr SP substitution exon 1 VAR_044144 P04075:p.Gly347Ser SP substitution exon 1 VAR_044145 P03950:p.Phe12Ser SP substitution exon 1 VAR_044146 P03950:p.Pro20Ser SP substitution exon 1 VAR_044147 P03950:p.Gln36Leu SP substitution exon 1 VAR_044148 P03950:p.Lys41Glu SP substitution exon 1 VAR_044149 P03950:p.Lys41Ile SP substitution exon 1 VAR_044150 P03950:p.Ser52Asn SP substitution exon 1 VAR_044151 P03950:p.Arg55Lys SP substitution exon 1 VAR_044152 P03950:p.Cys63Trp SP substitution exon 1 VAR_044153 P03950:p.Lys64Ile SP substitution exon 1 VAR_044154 P03950:p.Ile70Val SP substitution exon 1 VAR_044155 P03950:p.Pro136Leu SP substitution exon 1 VAR_044156 P03950:p.Val137Ile SP substitution exon 1 VAR_044157 P03950:p.His138Arg SP substitution exon 1 VAR_044158 P02462:p.Pro304Leu SP substitution exon 1 VAR_044159 P02462:p.Gly498Val SP substitution exon 1 VAR_044160 P02462:p.Gly519Arg SP substitution exon 1 VAR_044161 P02462:p.Gly528Glu SP substitution exon 1 VAR_044162 Q9NQX3:p.Asn10Tyr SP substitution exon 1 VAR_044163 Q9Y345:p.Ala89Glu SP substitution exon 1 VAR_044164 Q9Y345:p.Gly102Ser SP substitution exon 1 VAR_044165 Q9Y345:p.Phe124Ser SP substitution exon 1 VAR_044166 Q9Y345:p.Ala132Gly SP substitution exon 1 VAR_044167 Q9Y345:p.Ala162Gly SP substitution exon 1 VAR_044168 Q9Y345:p.Leu306Val SP substitution exon 1 VAR_044169 Q9Y345:p.Thr425Met SP substitution exon 1 VAR_044170 Q9Y345:p.Lys457Asn SP substitution exon 1 VAR_044171 Q9Y345:p.Trp482Cys SP substitution exon 1 VAR_044172 Q9Y345:p.Tyr491Cys SP substitution exon 1 VAR_044173 Q9Y345:p.Tyr499Phe SP substitution exon 1 VAR_044174 Q9Y345:p.Asn509Ser SP substitution exon 1 VAR_044175 Q9Y345:p.Ser510Arg SP substitution exon 1 VAR_044177 P0C7P3:p.Gln93Arg SP substitution exon 1 VAR_044178 P0C7P3:p.Lys385Glu SP substitution exon 1 VAR_044179 P0C7P3:p.Gly870Ser SP substitution exon 1 VAR_044180 P0C7P3:p.Ser880Ile SP substitution exon 1 VAR_044181 P0C7P3:p.Leu905Phe SP substitution exon 1 VAR_044182 P0C7P3:p.Tyr912Phe SP substitution exon 1 VAR_044183 Q9HCE6:p.Asp69Asn SP substitution exon 1 VAR_044184 Q9HCE6:p.Ala96Val SP substitution exon 1 VAR_044185 Q9HCE6:p.Trp991Arg SP substitution exon 1 VAR_044186 Q9HCE6:p.Ile1219Val SP substitution exon 1 VAR_044187 Q9HCM3:p.Ala448Pro SP substitution exon 1 VAR_044188 Q9HCM3:p.Val851Gly SP substitution exon 1 VAR_044189 Q8N8G6:p.Thr59Met SP substitution exon 1 VAR_044190 Q8N8G6:p.Glu77Lys SP substitution exon 1 VAR_044191 Q6ZSH3:p.Glu145Asp SP substitution exon 1 VAR_044195 A6PW82:p.Ile332Val SP substitution exon 1 VAR_044196 A6PW82:p.Ile363Met SP substitution exon 1 VAR_044197 A6PW82:p.His606Arg SP substitution exon 1 VAR_044198 Q5T1N1:p.Ser61Asn SP substitution exon 1 VAR_044199 Q5T1N1:p.Ala104Val SP substitution exon 1 VAR_044200 Q5T1N1:p.Glu167Gly SP substitution exon 1 VAR_044201 Q5T1N1:p.His255Tyr SP substitution exon 1 VAR_044202 Q5T1N1:p.Leu352Val SP substitution exon 1 VAR_044203 Q5T1N1:p.Asn616Lys SP substitution exon 1 VAR_044204 Q5T1N1:p.Cys654Tyr SP substitution exon 1 VAR_044205 Q6ZU35:p.Leu269Ile SP substitution exon 1 VAR_044206 Q6ZU35:p.Arg655Pro SP substitution exon 1 VAR_044207 Q6ZU35:p.Arg710Gln SP substitution exon 1 VAR_044208 Q6ZU35:p.Ser776Leu SP substitution exon 1 VAR_044209 A6NMX2:p.Asp227Tyr SP substitution exon 1 VAR_044225 Q14318:p.Ala87Val SP substitution exon 1 VAR_044226 P35579:p.Lys910Gln SP substitution exon 1 VAR_044227 P35579:p.Val967Glu SP substitution exon 1 VAR_044229 P01854:p.Trp43Cys SP substitution exon 1 VAR_044230 Q9UM47:p.Cys43Gly SP substitution exon 1 VAR_044231 Q9UM47:p.Cys49Phe SP substitution exon 1 VAR_044232 Q9UM47:p.Arg54Cys SP substitution exon 1 VAR_044233 Q9UM47:p.Ser60Cys SP substitution exon 1 VAR_044234 Q9UM47:p.Cys65Ser SP substitution exon 1 VAR_044235 Q9UM47:p.Cys67Tyr SP substitution exon 1 VAR_044236 Q9UM47:p.Cys76Arg SP substitution exon 1 VAR_044237 Q9UM47:p.Cys76Trp SP substitution exon 1 VAR_044240 Q9UM47:p.Cys87Arg SP substitution exon 1 VAR_044241 Q9UM47:p.Cys87Tyr SP substitution exon 1 VAR_044242 Q9UM47:p.Cys93Phe SP substitution exon 1 VAR_044243 Q9UM47:p.Cys93Tyr SP substitution exon 1 VAR_044244 Q9UM47:p.Cys106Trp SP substitution exon 1 VAR_044245 Q9UM47:p.Cys108Trp SP substitution exon 1 VAR_044246 Q9UM47:p.Cys108Tyr SP substitution exon 1 VAR_044247 Q9UM47:p.Cys117Phe SP substitution exon 1 VAR_044248 Q9UM47:p.Ser118Cys SP substitution exon 1 VAR_044249 Q9UM47:p.Cys123Phe SP substitution exon 1 VAR_044250 Q9UM47:p.Cys123Tyr SP substitution exon 1 VAR_044251 Q9UM47:p.Cys128Tyr SP substitution exon 1 VAR_044252 Q9UM47:p.Cys134Trp SP substitution exon 1 VAR_044253 Q9UM47:p.Phe142Cys SP substitution exon 1 VAR_044254 Q9UM47:p.Cys144Phe SP substitution exon 1 VAR_044255 Q9UM47:p.Cys144Ser SP substitution exon 1 VAR_044256 Q9UM47:p.Cys144Tyr SP substitution exon 1 VAR_044257 Q9UM47:p.Ser145Cys SP substitution exon 1 VAR_044258 Q9UM47:p.Gly149Cys SP substitution exon 1 VAR_044259 Q9UM47:p.Tyr150Cys SP substitution exon 1 VAR_044261 Q9UM47:p.Cys155Ser SP substitution exon 1 VAR_044262 Q9UM47:p.Cys162Ser SP substitution exon 1 VAR_044263 Q9UM47:p.Cys174Phe SP substitution exon 1 VAR_044264 Q9UM47:p.Cys174Arg SP substitution exon 1 VAR_044265 Q9UM47:p.Cys174Tyr SP substitution exon 1 VAR_044266 Q9UM47:p.Ser180Cys SP substitution exon 1 VAR_044267 Q9UM47:p.Cys183Phe SP substitution exon 1 VAR_044268 Q9UM47:p.Cys183Arg SP substitution exon 1 VAR_044269 Q9UM47:p.Cys183Ser SP substitution exon 1 VAR_044270 Q9UM47:p.Cys185Gly SP substitution exon 1 VAR_044271 Q9UM47:p.Tyr189Cys SP substitution exon 1 VAR_044272 Q9UM47:p.Cys194Phe SP substitution exon 1 VAR_044273 Q9UM47:p.Cys194Arg SP substitution exon 1 VAR_044274 Q9UM47:p.Cys194Ser SP substitution exon 1 VAR_044275 Q9UM47:p.Cys194Tyr SP substitution exon 1 VAR_044276 Q9UM47:p.Cys201Tyr SP substitution exon 1 VAR_044277 Q9UM47:p.Cys206Tyr SP substitution exon 1 VAR_044278 Q9UM47:p.Arg207Cys SP substitution exon 1 VAR_044279 Q9UM47:p.Arg213Lys SP substitution exon 1 VAR_044280 Q9UM47:p.Cys222Tyr SP substitution exon 1 VAR_044281 Q9UM47:p.Cys233Ser SP substitution exon 1 VAR_044282 Q9UM47:p.Cys233Tyr SP substitution exon 1 VAR_044284 Q9UM47:p.Cys240Ser SP substitution exon 1 VAR_044285 Q9UM47:p.Cys245Arg SP substitution exon 1 VAR_044286 Q9UM47:p.Cys251Arg SP substitution exon 1 VAR_044287 Q9UM47:p.Cys260Tyr SP substitution exon 1 VAR_044288 Q9UM47:p.Ala319Cys SP substitution exon 1 VAR_044289 Q9UM47:p.Arg332Cys SP substitution exon 1 VAR_044290 Q9UM47:p.Ser335Cys SP substitution exon 1 VAR_044291 Q9UM47:p.Tyr337Cys SP substitution exon 1 VAR_044292 Q9UM47:p.Cys379Ser SP substitution exon 1 VAR_044293 Q9UM47:p.Cys395Arg SP substitution exon 1 VAR_044294 Q9UM47:p.Gly420Cys SP substitution exon 1 VAR_044295 Q9UM47:p.Arg421Cys SP substitution exon 1 VAR_044296 Q9UM47:p.Cys428Ser SP substitution exon 1 VAR_044297 Q9UM47:p.Cys428Tyr SP substitution exon 1 VAR_044298 Q9UM47:p.Cys440Gly SP substitution exon 1 VAR_044299 Q9UM47:p.Cys440Arg SP substitution exon 1 VAR_044300 Q9UM47:p.Cys446Ser SP substitution exon 1 VAR_044301 Q9UM47:p.Arg449Cys SP substitution exon 1 VAR_044302 Q9UM47:p.Cys455Arg SP substitution exon 1 VAR_044303 Q9UM47:p.Cys484Phe SP substitution exon 1 VAR_044304 Q9UM47:p.Cys484Tyr SP substitution exon 1 VAR_044305 Q9UM47:p.Cys495Tyr SP substitution exon 1 VAR_044306 Q9UM47:p.Cys511Arg SP substitution exon 1 VAR_044307 Q9UM47:p.Arg544Cys SP substitution exon 1 VAR_044308 Q9UM47:p.Cys549Tyr SP substitution exon 1 VAR_044309 Q9UM47:p.Arg607Cys SP substitution exon 1 VAR_044310 Q9UM47:p.Cys775Ser SP substitution exon 1 VAR_044311 Q9UM47:p.Gly953Cys SP substitution exon 1 VAR_044312 Q9UM47:p.Phe984Cys SP substitution exon 1 VAR_044313 Q9UM47:p.Cys1015Arg SP substitution exon 1 VAR_044314 Q9UM47:p.Ala1020Pro SP substitution exon 1 VAR_044315 Q9UM47:p.Tyr1021Cys SP substitution exon 1 VAR_044316 Q9UM47:p.Asp1063Cys SP substitution exon 1 VAR_044317 Q9UM47:p.Cys1261Tyr SP substitution exon 1 VAR_044319 P07360:p.Asp118Gly SP substitution exon 1 VAR_044321 Q96M96:p.Met298Thr SP substitution exon 1 VAR_044322 Q494R4:p.Arg101His SP substitution exon 1 VAR_044325 Q8IYB0:p.Asp129Tyr SP substitution exon 1 VAR_044326 P43657:p.Asp63Val SP substitution exon 1 VAR_044327 P43657:p.Ile188Phe SP substitution exon 1 VAR_044328 P43657:p.Glu189Lys SP substitution exon 1 VAR_044329 Q9P032:p.Leu65Pro SP substitution exon 1 VAR_044330 P0C7Q2:p.Arg3His SP substitution exon 1 VAR_044331 P0C7Q2:p.Ala69Ser SP substitution exon 1 VAR_044332 P0C7Q3:p.Gln48Arg SP substitution exon 1 VAR_044333 P0C7Q3:p.Thr236Asn SP substitution exon 1 VAR_044334 Q96AA3:p.Arg67Cys SP substitution exon 1 VAR_044335 P0C7Q6:p.Ala51Thr SP substitution exon 1 VAR_044336 P0C7Q6:p.Pro251Leu SP substitution exon 1 VAR_044337 A3KMH1:p.Arg165His SP substitution exon 1 VAR_044338 A3KMH1:p.Met383Thr SP substitution exon 1 VAR_044339 A3KMH1:p.Gly408Arg SP substitution exon 1 VAR_044340 A3KMH1:p.Arg660Gly SP substitution exon 1 VAR_044345 Q8N8A8:p.Ser115Pro SP substitution exon 1 VAR_044346 Q6UB35:p.Leu444Arg SP substitution exon 1 VAR_044348 Q8TDQ7:p.Pro182Ser SP substitution exon 1 VAR_044349 Q5TCH4:p.Arg11Cys SP substitution exon 1 VAR_044350 Q5TCH4:p.Lys121Arg SP substitution exon 1 VAR_044351 Q5TCH4:p.Arg126Trp SP substitution exon 1 VAR_044352 Q5TCH4:p.Gly130Ser SP substitution exon 1 VAR_044353 Q5TCH4:p.Asn152Tyr SP substitution exon 1 VAR_044354 Q5TCH4:p.Val185Phe SP substitution exon 1 VAR_044355 Q5TCH4:p.Ser226Asn SP substitution exon 1 VAR_044356 Q5TCH4:p.Cys230Ser SP substitution exon 1 VAR_044357 Q5TCH4:p.Cys231Arg SP substitution exon 1 VAR_044358 Q5TCH4:p.Lys276Thr SP substitution exon 1 VAR_044359 Q5TCH4:p.Leu428Pro SP substitution exon 1 VAR_044362 Q6V1P9:p.Val153Ala SP substitution exon 1 VAR_044363 Q6V1P9:p.His174Arg SP substitution exon 1 VAR_044364 Q6V1P9:p.Ser344Leu SP substitution exon 1 VAR_044365 Q6V1P9:p.Val827Ile SP substitution exon 1 VAR_044366 Q6V1P9:p.Asn897Ser SP substitution exon 1 VAR_044367 Q6V1P9:p.Ser1205Leu SP substitution exon 1 VAR_044368 Q6V1P9:p.Thr1480Arg SP substitution exon 1 VAR_044369 Q6V1P9:p.Thr2112Met SP substitution exon 1 VAR_044370 Q6V1P9:p.Ser2303Asn SP substitution exon 1 VAR_044371 Q75WM6:p.Arg84Gly SP substitution exon 1 VAR_044372 Q75WM6:p.Leu108Pro SP substitution exon 1 VAR_044373 Q75WM6:p.Arg136Ser SP substitution exon 1 VAR_044374 Q75WM6:p.Arg174Gln SP substitution exon 1 VAR_044375 Q75WM6:p.Ser237Phe SP substitution exon 1 VAR_044377 Q02928:p.Ser353Gly SP substitution exon 1 VAR_044378 A6NLF2:p.Pro375Leu SP substitution exon 1 VAR_044379 P56282:p.His84Pro SP substitution exon 1 VAR_044380 P56282:p.Leu456Val SP substitution exon 1 VAR_044381 P56282:p.Pro514Leu SP substitution exon 1 VAR_044382 O75881:p.Gly57Arg SP substitution exon 1 VAR_044383 O75881:p.Phe216Ser SP substitution exon 1 VAR_044384 O75881:p.Ser363Phe SP substitution exon 1 VAR_044385 O75881:p.Arg417His SP substitution exon 1 VAR_044386 P24557:p.Leu82Pro SP substitution exon 1 VAR_044387 P24557:p.Leu357Val SP substitution exon 1 VAR_044388 P24557:p.Arg412Gln SP substitution exon 1 VAR_044392 P07949:p.Pro198Thr SP substitution exon 1 VAR_044393 P07949:p.Val376Ala SP substitution exon 1 VAR_044394 P07949:p.Asn394His SP substitution exon 1 VAR_044395 P07949:p.Val778Ile SP substitution exon 1 VAR_044396 P07949:p.Gly894Ser SP substitution exon 1 VAR_044397 P07949:p.Pro1049Leu SP substitution exon 1 VAR_044398 P07949:p.Pro1067Ser SP substitution exon 1 VAR_044399 O75631:p.Gln91Leu SP substitution exon 1 VAR_044400 O75631:p.Gly202Asp SP substitution exon 1 VAR_044401 O75631:p.Pro273Leu SP substitution exon 1 VAR_044402 Q8NI60:p.Arg213Trp SP substitution exon 1 VAR_044403 Q8NI60:p.Gly272Asp SP substitution exon 1 VAR_044404 Q8NI60:p.Gly272Val SP substitution exon 1 VAR_044409 Q8IY17:p.Arg929His SP substitution exon 1 VAR_044410 Q8IY17:p.Met1051Val SP substitution exon 1 VAR_044417 Q9UGM3:p.Asn322Asp SP substitution exon 1 VAR_044418 Q9UGM3:p.Arg1860Leu SP substitution exon 1 VAR_044419 Q16549:p.Leu688Val SP substitution exon 1 VAR_044420 Q16549:p.Ser689Asn SP substitution exon 1 VAR_044421 Q16549:p.Arg700Met SP substitution exon 1 VAR_044422 Q16549:p.His708Tyr SP substitution exon 1 VAR_044423 Q16549:p.Arg711Gln SP substitution exon 1 VAR_044424 P05067:p.Asp678Asn SP substitution exon 1 VAR_044425 A6NMB9:p.Thr366Pro SP substitution exon 1 VAR_044426 P53804:p.Ser1063Thr SP substitution exon 1 VAR_044427 P53804:p.Asn1128His SP substitution exon 1 VAR_044428 P53804:p.Pro1154Ser SP substitution exon 1 VAR_044429 Q9UMS0:p.Met25Lys SP substitution exon 1 VAR_044430 P51857:p.Pro133Arg SP substitution exon 1 VAR_044432 O95789:p.Lys660Arg SP substitution exon 1 VAR_044434 Q8IU80:p.Glu262Lys SP substitution exon 1 VAR_044435 Q8IU80:p.Gly442Arg SP substitution exon 1 VAR_044436 Q8IU80:p.Asp521Asn SP substitution exon 1 VAR_044437 Q8IU80:p.Arg774Cys SP substitution exon 1 VAR_044438 Q9BTV4:p.Ser358Leu SP substitution exon 1 VAR_044439 Q6Y7W6:p.Asn56Ser SP substitution exon 1 VAR_044440 Q6Y7W6:p.Thr112Ala SP substitution exon 1 VAR_044441 Q6Y7W6:p.Ile278Val SP substitution exon 1 VAR_044442 Q6Y7W6:p.Ser335Thr SP substitution exon 1 VAR_044443 Q6Y7W6:p.Asn457Thr SP substitution exon 1 VAR_044444 Q6Y7W6:p.Pro460Thr SP substitution exon 1 VAR_044445 Q6Y7W6:p.Asp606Glu SP substitution exon 1 VAR_044450 P99999:p.Gly42Ser SP substitution exon 1 VAR_044451 P28799:p.Ala9Asp SP substitution exon 1 VAR_044452 Q99502:p.Ser242Gly SP substitution exon 1 VAR_044453 P35670:p.Val290Leu SP substitution exon 1 VAR_044454 P35670:p.Ala486Ser SP substitution exon 1 VAR_044455 P35670:p.Tyr532His SP substitution exon 1 VAR_044456 P35670:p.Gly591Asp SP substitution exon 1 VAR_044457 P35670:p.Ala604Pro SP substitution exon 1 VAR_044458 P35670:p.His639Tyr SP substitution exon 1 VAR_044459 P35670:p.Ser653Tyr SP substitution exon 1 VAR_044460 P35670:p.Cys703Tyr SP substitution exon 1 VAR_044461 P35670:p.Gly710Val SP substitution exon 1 VAR_044496 P0C7T5:p.Ser313Pro SP substitution exon 1 VAR_044501 A8MXY4:p.Ala150Gly SP substitution exon 1 VAR_044502 Q5JXM2:p.Leu281Phe SP substitution exon 1 VAR_044503 Q8IV16:p.Cys14Phe SP substitution exon 1 VAR_044504 Q8IV16:p.Gly56Arg SP substitution exon 1 VAR_044505 O43613:p.Gly167Ser SP substitution exon 1 VAR_044506 O43613:p.Arg281His SP substitution exon 1 VAR_044507 O43614:p.Pro10Ser SP substitution exon 1 VAR_044508 O43614:p.Pro11Thr SP substitution exon 1 VAR_044509 O43614:p.Ile293Val SP substitution exon 1 VAR_044510 O43614:p.Ile308Val SP substitution exon 1 VAR_044511 Q9HAV5:p.Arg57Lys SP substitution exon 1 VAR_044512 Q9HAV5:p.Thr129Ala SP substitution exon 1 VAR_044513 P28336:p.Leu390Met SP substitution exon 1 VAR_044514 Q6IF63:p.His239Arg SP substitution exon 1 VAR_044515 Q6IF63:p.Leu254Gln SP substitution exon 1 VAR_044516 Q6IF63:p.Thr266Ala SP substitution exon 1 VAR_044517 Q765I0:p.Ser21Ile SP substitution exon 1 VAR_044518 Q9P107:p.Asp641Asn SP substitution exon 1 VAR_044519 O15444:p.Thr23Ala SP substitution exon 1 VAR_044520 O15444:p.His101Arg SP substitution exon 1 VAR_044521 O15444:p.Thr104Met SP substitution exon 1 VAR_044522 Q8TAG9:p.Thr396Ile SP substitution exon 1 VAR_044523 Q8TAG9:p.Leu523Val SP substitution exon 1 VAR_044524 Q8TAG9:p.Thr578Ile SP substitution exon 1 VAR_044525 Q6ZWI9:p.Gly234Asp SP substitution exon 1 VAR_044526 Q9BZC7:p.His583Pro SP substitution exon 1 VAR_044527 Q9BZC7:p.Phe674Val SP substitution exon 1 VAR_044528 Q9BXB1:p.Ser215Gly SP substitution exon 1 VAR_044529 Q9BXB1:p.Asn233Ser SP substitution exon 1 VAR_044530 Q9BXB1:p.Ala480Val SP substitution exon 1 VAR_044531 Q9BXB1:p.Arg684Gly SP substitution exon 1 VAR_044532 Q9BXB1:p.Thr709Met SP substitution exon 1 VAR_044533 Q9BXB1:p.Asp844Gly SP substitution exon 1 VAR_044534 P08218:p.Gly79Arg SP substitution exon 1 VAR_044535 P08218:p.Asp114Asn SP substitution exon 1 VAR_044536 P08218:p.Gln177Arg SP substitution exon 1 VAR_044537 P08218:p.Gly235Ser SP substitution exon 1 VAR_044538 Q9P2W7:p.Ala131Thr SP substitution exon 1 VAR_044541 Q8N5J2:p.Thr385Lys SP substitution exon 1 VAR_044542 Q96JE9:p.Ile247Met SP substitution exon 1 VAR_044543 P04637:p.Gln5His SP substitution exon 1 VAR_044544 P04637:p.Ser6Leu SP substitution exon 1 VAR_044545 P04637:p.Pro8Ser SP substitution exon 1 VAR_044546 P04637:p.Val10Ile SP substitution exon 1 VAR_044547 P04637:p.Glu11Lys SP substitution exon 1 VAR_044548 P04637:p.Glu11Gln SP substitution exon 1 VAR_044549 P04637:p.Ser15Arg SP substitution exon 1 VAR_044550 P04637:p.Gln16Leu SP substitution exon 1 VAR_044551 P04637:p.Glu17Asp SP substitution exon 1 VAR_044552 P04637:p.Lys24Asn SP substitution exon 1 VAR_044553 P04637:p.Glu28Ala SP substitution exon 1 VAR_044554 P04637:p.Val31Ile SP substitution exon 1 VAR_044555 P04637:p.Ser33Thr SP substitution exon 1 VAR_044556 P04637:p.Pro34Leu SP substitution exon 1 VAR_044557 P04637:p.Pro36Leu SP substitution exon 1 VAR_044558 P04637:p.Ser37Pro SP substitution exon 1 VAR_044559 P04637:p.Ser37Thr SP substitution exon 1 VAR_044560 P04637:p.Ala39Pro SP substitution exon 1 VAR_044561 P04637:p.Ala39Val SP substitution exon 1 VAR_044562 P04637:p.Asp42Tyr SP substitution exon 1 VAR_044563 P04637:p.Met44Ile SP substitution exon 1 VAR_044564 P04637:p.Met44Thr SP substitution exon 1 VAR_044565 P04637:p.Met44Val SP substitution exon 1 VAR_044566 P04637:p.Leu45Met SP substitution exon 1 VAR_044567 P04637:p.Ser46Phe SP substitution exon 1 VAR_044568 P04637:p.Ser46Pro SP substitution exon 1 VAR_044569 P04637:p.Pro47Leu SP substitution exon 1 VAR_044570 P04637:p.Asp48Gly SP substitution exon 1 VAR_044571 P04637:p.Asp49His SP substitution exon 1 VAR_044572 P04637:p.Asp49Asn SP substitution exon 1 VAR_044573 P04637:p.Asp49Tyr SP substitution exon 1 VAR_044574 P04637:p.Gln52His SP substitution exon 1 VAR_044575 P04637:p.Trp53Gly SP substitution exon 1 VAR_044576 P04637:p.Phe54Leu SP substitution exon 1 VAR_044577 P04637:p.Phe54Tyr SP substitution exon 1 VAR_044578 P04637:p.Glu56Lys SP substitution exon 1 VAR_044579 P04637:p.Glu56Val SP substitution exon 1 VAR_044580 P04637:p.Pro58Gln SP substitution exon 1 VAR_044581 P04637:p.Pro58Thr SP substitution exon 1 VAR_044582 P04637:p.Gly59Cys SP substitution exon 1 VAR_044583 P04637:p.Gly59Asp SP substitution exon 1 VAR_044584 P04637:p.Pro60Leu SP substitution exon 1 VAR_044585 P04637:p.Pro60Gln SP substitution exon 1 VAR_044586 P04637:p.Asp61Gly SP substitution exon 1 VAR_044587 P04637:p.Asp61Asn SP substitution exon 1 VAR_044588 P04637:p.Glu62Asp SP substitution exon 1 VAR_044589 P04637:p.Ala63Thr SP substitution exon 1 VAR_044590 P04637:p.Ala63Val SP substitution exon 1 VAR_044591 P04637:p.Arg65Thr SP substitution exon 1 VAR_044592 P04637:p.Met66Ile SP substitution exon 1 VAR_044593 P04637:p.Met66Arg SP substitution exon 1 VAR_044594 P04637:p.Pro67Leu SP substitution exon 1 VAR_044595 P04637:p.Pro67Arg SP substitution exon 1 VAR_044596 P04637:p.Pro67Ser SP substitution exon 1 VAR_044597 P04637:p.Glu68Gly SP substitution exon 1 VAR_044598 P04637:p.Glu68Gln SP substitution exon 1 VAR_044599 P04637:p.Ala69Asp SP substitution exon 1 VAR_044600 P04637:p.Ala69Gly SP substitution exon 1 VAR_044601 P04637:p.Ala69Thr SP substitution exon 1 VAR_044602 P04637:p.Ala69Val SP substitution exon 1 VAR_044603 P04637:p.Ala70Thr SP substitution exon 1 VAR_044604 P04637:p.Pro71Thr SP substitution exon 1 VAR_044605 P04637:p.Val73Glu SP substitution exon 1 VAR_044606 P04637:p.Val73Leu SP substitution exon 1 VAR_044607 P04637:p.Val73Met SP substitution exon 1 VAR_044608 P04637:p.Ala74Thr SP substitution exon 1 VAR_044609 P04637:p.Pro75Leu SP substitution exon 1 VAR_044610 P04637:p.Pro75Arg SP substitution exon 1 VAR_044611 P04637:p.Pro75Ser SP substitution exon 1 VAR_044612 P04637:p.Ala76Gly SP substitution exon 1 VAR_044613 P04637:p.Ala76Thr SP substitution exon 1 VAR_044614 P04637:p.Pro77Ala SP substitution exon 1 VAR_044615 P04637:p.Ala78Val SP substitution exon 1 VAR_044616 P04637:p.Ala79Gly SP substitution exon 1 VAR_044617 P04637:p.Ala79Val SP substitution exon 1 VAR_044618 P04637:p.Pro80Leu SP substitution exon 1 VAR_044619 P04637:p.Pro80Ser SP substitution exon 1 VAR_044620 P04637:p.Thr81Ile SP substitution exon 1 VAR_044621 P04637:p.Pro82Leu SP substitution exon 1 VAR_044622 P04637:p.Pro82Ser SP substitution exon 1 VAR_044623 P04637:p.Ala83Glu SP substitution exon 1 VAR_044624 P04637:p.Ala83Val SP substitution exon 1 VAR_044625 P04637:p.Ala84Gly SP substitution exon 1 VAR_044626 P04637:p.Ala84Val SP substitution exon 1 VAR_044627 P04637:p.Pro85Leu SP substitution exon 1 VAR_044628 P04637:p.Pro85Ser SP substitution exon 1 VAR_044629 P04637:p.Ala86Val SP substitution exon 1 VAR_044630 P04637:p.Ala88Thr SP substitution exon 1 VAR_044631 P04637:p.Ala88Val SP substitution exon 1 VAR_044632 P04637:p.Pro89Leu SP substitution exon 1 VAR_044633 P04637:p.Pro89Ser SP substitution exon 1 VAR_044634 P04637:p.Ser90Phe SP substitution exon 1 VAR_044635 P04637:p.Ser90Tyr SP substitution exon 1 VAR_044636 P04637:p.Trp91Cys SP substitution exon 1 VAR_044637 P04637:p.Pro92Ala SP substitution exon 1 VAR_044638 P04637:p.Pro92Leu SP substitution exon 1 VAR_044639 P04637:p.Pro92Ser SP substitution exon 1 VAR_044640 P04637:p.Leu93Met SP substitution exon 1 VAR_044641 P04637:p.Leu93Pro SP substitution exon 1 VAR_044642 P04637:p.Ser94Leu SP substitution exon 1 VAR_044643 P04637:p.Ser95Phe SP substitution exon 1 VAR_044644 P04637:p.Ser95Thr SP substitution exon 1 VAR_044645 P04637:p.Ser96Cys SP substitution exon 1 VAR_044646 P04637:p.Ser96Phe SP substitution exon 1 VAR_044647 P04637:p.Ser96Pro SP substitution exon 1 VAR_044648 P04637:p.Val97Ala SP substitution exon 1 VAR_044649 P04637:p.Val97Phe SP substitution exon 1 VAR_044650 P04637:p.Val97Ile SP substitution exon 1 VAR_044651 P04637:p.Pro98Leu SP substitution exon 1 VAR_044652 P04637:p.Pro98Ser SP substitution exon 1 VAR_044653 P04637:p.Ser99Phe SP substitution exon 1 VAR_044654 P04637:p.Ser99Pro SP substitution exon 1 VAR_044655 P04637:p.Gln100Arg SP substitution exon 1 VAR_044656 P04637:p.Lys101Asn SP substitution exon 1 VAR_044657 P04637:p.Lys101Arg SP substitution exon 1 VAR_044658 P04637:p.Thr102Ile SP substitution exon 1 VAR_044659 P04637:p.Gln104His SP substitution exon 1 VAR_044660 P04637:p.Gln104Leu SP substitution exon 1 VAR_044661 P04637:p.Gly105Cys SP substitution exon 1 VAR_044662 P04637:p.Gly105Asp SP substitution exon 1 VAR_044663 P04637:p.Gly105Arg SP substitution exon 1 VAR_044664 P04637:p.Gly105Ser SP substitution exon 1 VAR_044665 P04637:p.Gly105Val SP substitution exon 1 VAR_044666 P04637:p.Ser106Gly SP substitution exon 1 VAR_044667 P04637:p.Ser106Arg SP substitution exon 1 VAR_044668 P04637:p.Tyr107Cys SP substitution exon 1 VAR_044669 P04637:p.Tyr107Asp SP substitution exon 1 VAR_044670 P04637:p.Tyr107His SP substitution exon 1 VAR_044671 P04637:p.Gly108Asp SP substitution exon 1 VAR_044672 P04637:p.Gly108Ser SP substitution exon 1 VAR_044673 P04637:p.Phe109Cys SP substitution exon 1 VAR_044674 P04637:p.Phe109Leu SP substitution exon 1 VAR_044675 P04637:p.Phe109Ser SP substitution exon 1 VAR_044676 P04637:p.Arg110Gly SP substitution exon 1 VAR_044677 P04637:p.Arg110His SP substitution exon 1 VAR_044678 P04637:p.Arg110Ser SP substitution exon 1 VAR_044679 P04637:p.Leu111Met SP substitution exon 1 VAR_044680 P04637:p.Leu111Pro SP substitution exon 1 VAR_044681 P04637:p.Leu111Gln SP substitution exon 1 VAR_044682 P04637:p.Leu111Arg SP substitution exon 1 VAR_044683 P04637:p.Gly112Asp SP substitution exon 1 VAR_044684 P04637:p.Gly112Ser SP substitution exon 1 VAR_044685 P04637:p.Phe113Ile SP substitution exon 1 VAR_044686 P04637:p.Phe113Leu SP substitution exon 1 VAR_044687 P04637:p.Phe113Ser SP substitution exon 1 VAR_044688 P04637:p.His115Tyr SP substitution exon 1 VAR_044689 P04637:p.Ser116Cys SP substitution exon 1 VAR_044690 P04637:p.Ser116Phe SP substitution exon 1 VAR_044691 P04637:p.Ser116Pro SP substitution exon 1 VAR_044692 P04637:p.Gly117Glu SP substitution exon 1 VAR_044693 P04637:p.Gly117Arg SP substitution exon 1 VAR_044694 P04637:p.Thr118Ala SP substitution exon 1 VAR_044695 P04637:p.Thr118Ile SP substitution exon 1 VAR_044696 P04637:p.Thr118Arg SP substitution exon 1 VAR_044697 P04637:p.Ala119Asp SP substitution exon 1 VAR_044698 P04637:p.Ala119Thr SP substitution exon 1 VAR_044699 P04637:p.Lys120Glu SP substitution exon 1 VAR_044700 P04637:p.Lys120Met SP substitution exon 1 VAR_044701 P04637:p.Lys120Gln SP substitution exon 1 VAR_044702 P04637:p.Lys120Arg SP substitution exon 1 VAR_044703 P04637:p.Ser121Phe SP substitution exon 1 VAR_044704 P04637:p.Val122Leu SP substitution exon 1 VAR_044705 P04637:p.Thr123Ile SP substitution exon 1 VAR_044706 P04637:p.Thr123Asn SP substitution exon 1 VAR_044707 P04637:p.Cys124Gly SP substitution exon 1 VAR_044708 P04637:p.Cys124Arg SP substitution exon 1 VAR_044709 P04637:p.Cys124Ser SP substitution exon 1 VAR_044710 P04637:p.Cys124Trp SP substitution exon 1 VAR_044711 P04637:p.Cys124Tyr SP substitution exon 1 VAR_044712 P04637:p.Thr125Ala SP substitution exon 1 VAR_044713 P04637:p.Thr125Lys SP substitution exon 1 VAR_044714 P04637:p.Thr125Pro SP substitution exon 1 VAR_044715 P04637:p.Thr125Arg SP substitution exon 1 VAR_044716 P04637:p.Tyr126Cys SP substitution exon 1 VAR_044717 P04637:p.Tyr126Phe SP substitution exon 1 VAR_044718 P04637:p.Tyr126His SP substitution exon 1 VAR_044719 P04637:p.Tyr126Ser SP substitution exon 1 VAR_044720 P04637:p.Ser127Cys SP substitution exon 1 VAR_044721 P04637:p.Ser127Pro SP substitution exon 1 VAR_044722 P04637:p.Ser127Thr SP substitution exon 1 VAR_044723 P04637:p.Ser127Tyr SP substitution exon 1 VAR_044724 P04637:p.Pro128Ala SP substitution exon 1 VAR_044725 P04637:p.Pro128Leu SP substitution exon 1 VAR_044726 P04637:p.Pro128Arg SP substitution exon 1 VAR_044727 P04637:p.Ala129Gly SP substitution exon 1 VAR_044728 P04637:p.Ala129Thr SP substitution exon 1 VAR_044729 P04637:p.Ala129Val SP substitution exon 1 VAR_044730 P04637:p.Leu130Phe SP substitution exon 1 VAR_044731 P04637:p.Leu130His SP substitution exon 1 VAR_044732 P04637:p.Leu130Ile SP substitution exon 1 VAR_044733 P04637:p.Leu130Pro SP substitution exon 1 VAR_044734 P04637:p.Leu130Val SP substitution exon 1 VAR_044735 P04637:p.Asn131Asp SP substitution exon 1 VAR_044736 P04637:p.Asn131His SP substitution exon 1 VAR_044737 P04637:p.Asn131Ile SP substitution exon 1 VAR_044738 P04637:p.Asn131Thr SP substitution exon 1 VAR_044739 P04637:p.Asn131Tyr SP substitution exon 1 VAR_044740 P04637:p.Lys132Glu SP substitution exon 1 VAR_044741 P04637:p.Lys132Asn SP substitution exon 1 VAR_044742 P04637:p.Lys132Arg SP substitution exon 1 VAR_044743 P04637:p.Lys132Thr SP substitution exon 1 VAR_044744 P04637:p.Met133Ile SP substitution exon 1 VAR_044745 P04637:p.Met133Lys SP substitution exon 1 VAR_044746 P04637:p.Met133Leu SP substitution exon 1 VAR_044747 P04637:p.Met133Arg SP substitution exon 1 VAR_044748 P04637:p.Met133Val SP substitution exon 1 VAR_044749 P04637:p.Phe134Cys SP substitution exon 1 VAR_044750 P04637:p.Phe134Ile SP substitution exon 1 VAR_044751 P04637:p.Phe134Ser SP substitution exon 1 VAR_044752 P04637:p.Phe134Val SP substitution exon 1 VAR_044753 P04637:p.Cys135Gly SP substitution exon 1 VAR_044754 P04637:p.Cys135Arg SP substitution exon 1 VAR_044755 P04637:p.Cys135Trp SP substitution exon 1 VAR_044756 P04637:p.Cys135Tyr SP substitution exon 1 VAR_044757 P04637:p.Gln136His SP substitution exon 1 VAR_044758 P04637:p.Gln136Pro SP substitution exon 1 VAR_044759 P04637:p.Gln136Arg SP substitution exon 1 VAR_044760 P04637:p.Leu137Met SP substitution exon 1 VAR_044761 P04637:p.Leu137Pro SP substitution exon 1 VAR_044762 P04637:p.Leu137Val SP substitution exon 1 VAR_044763 P04637:p.Ala138Asp SP substitution exon 1 VAR_044764 P04637:p.Ala138Ser SP substitution exon 1 VAR_044765 P04637:p.Ala138Thr SP substitution exon 1 VAR_044766 P04637:p.Lys139Glu SP substitution exon 1 VAR_044767 P04637:p.Lys139Gln SP substitution exon 1 VAR_044768 P04637:p.Lys139Arg SP substitution exon 1 VAR_044769 P04637:p.Lys139Thr SP substitution exon 1 VAR_044770 P04637:p.Thr140Ala SP substitution exon 1 VAR_044771 P04637:p.Thr140Ile SP substitution exon 1 VAR_044772 P04637:p.Thr140Asn SP substitution exon 1 VAR_044773 P04637:p.Thr140Pro SP substitution exon 1 VAR_044774 P04637:p.Thr140Ser SP substitution exon 1 VAR_044775 P04637:p.Cys141Arg SP substitution exon 1 VAR_044776 P04637:p.Cys141Ser SP substitution exon 1 VAR_044777 P04637:p.Cys141Trp SP substitution exon 1 VAR_044778 P04637:p.Pro142Ala SP substitution exon 1 VAR_044779 P04637:p.Pro142His SP substitution exon 1 VAR_044780 P04637:p.Pro142Leu SP substitution exon 1 VAR_044781 P04637:p.Pro142Arg SP substitution exon 1 VAR_044782 P04637:p.Pro142Ser SP substitution exon 1 VAR_044783 P04637:p.Pro142Thr SP substitution exon 1 VAR_044784 P04637:p.Val143Glu SP substitution exon 1 VAR_044785 P04637:p.Val143Gly SP substitution exon 1 VAR_044786 P04637:p.Val143Leu SP substitution exon 1 VAR_044787 P04637:p.Val143Met SP substitution exon 1 VAR_044788 P04637:p.Gln144His SP substitution exon 1 VAR_044789 P04637:p.Gln144Lys SP substitution exon 1 VAR_044790 P04637:p.Gln144Leu SP substitution exon 1 VAR_044791 P04637:p.Gln144Arg SP substitution exon 1 VAR_044792 P04637:p.Leu145Met SP substitution exon 1 VAR_044793 P04637:p.Leu145Arg SP substitution exon 1 VAR_044794 P04637:p.Leu145Val SP substitution exon 1 VAR_044795 P04637:p.Trp146Cys SP substitution exon 1 VAR_044796 P04637:p.Trp146Gly SP substitution exon 1 VAR_044797 P04637:p.Trp146Leu SP substitution exon 1 VAR_044798 P04637:p.Trp146Arg SP substitution exon 1 VAR_044799 P04637:p.Trp146Ser SP substitution exon 1 VAR_044800 P04637:p.Val147Ala SP substitution exon 1 VAR_044801 P04637:p.Val147Glu SP substitution exon 1 VAR_044802 P04637:p.Val147Phe SP substitution exon 1 VAR_044803 P04637:p.Val147Ile SP substitution exon 1 VAR_044804 P04637:p.Asp148Ala SP substitution exon 1 VAR_044805 P04637:p.Asp148Glu SP substitution exon 1 VAR_044806 P04637:p.Asp148Gly SP substitution exon 1 VAR_044807 P04637:p.Asp148Asn SP substitution exon 1 VAR_044808 P04637:p.Asp148Val SP substitution exon 1 VAR_044809 P04637:p.Asp148Tyr SP substitution exon 1 VAR_044810 P04637:p.Ser149Phe SP substitution exon 1 VAR_044811 P04637:p.Ser149Thr SP substitution exon 1 VAR_044812 P04637:p.Thr150Ala SP substitution exon 1 VAR_044813 P04637:p.Thr150Ile SP substitution exon 1 VAR_044814 P04637:p.Thr150Lys SP substitution exon 1 VAR_044815 P04637:p.Thr150Asn SP substitution exon 1 VAR_044816 P04637:p.Thr150Pro SP substitution exon 1 VAR_044817 P04637:p.Thr150Arg SP substitution exon 1 VAR_044818 P04637:p.Pro151His SP substitution exon 1 VAR_044819 P04637:p.Pro151Leu SP substitution exon 1 VAR_044820 P04637:p.Pro151Arg SP substitution exon 1 VAR_044821 P04637:p.Pro152Ala SP substitution exon 1 VAR_044822 P04637:p.Pro152Gln SP substitution exon 1 VAR_044823 P04637:p.Pro152Arg SP substitution exon 1 VAR_044824 P04637:p.Pro152Thr SP substitution exon 1 VAR_044825 P04637:p.Pro153Ala SP substitution exon 1 VAR_044826 P04637:p.Pro153His SP substitution exon 1 VAR_044827 P04637:p.Pro153Leu SP substitution exon 1 VAR_044828 P04637:p.Pro153Arg SP substitution exon 1 VAR_044829 P04637:p.Pro153Ser SP substitution exon 1 VAR_044830 P04637:p.Gly154Ala SP substitution exon 1 VAR_044831 P04637:p.Gly154Cys SP substitution exon 1 VAR_044832 P04637:p.Gly154Asp SP substitution exon 1 VAR_044833 P04637:p.Gly154Ser SP substitution exon 1 VAR_044834 P04637:p.Thr155Ile SP substitution exon 1 VAR_044835 P04637:p.Thr155Met SP substitution exon 1 VAR_044836 P04637:p.Thr155Asn SP substitution exon 1 VAR_044837 P04637:p.Thr155Pro SP substitution exon 1 VAR_044838 P04637:p.Thr155Ser SP substitution exon 1 VAR_044839 P04637:p.Arg156Cys SP substitution exon 1 VAR_044840 P04637:p.Arg156Gly SP substitution exon 1 VAR_044841 P04637:p.Arg156His SP substitution exon 1 VAR_044842 P04637:p.Arg156Leu SP substitution exon 1 VAR_044843 P04637:p.Arg156Ser SP substitution exon 1 VAR_044844 P04637:p.Val157Ala SP substitution exon 1 VAR_044845 P04637:p.Val157Gly SP substitution exon 1 VAR_044846 P04637:p.Val157Leu SP substitution exon 1 VAR_044847 P04637:p.Arg158Leu SP substitution exon 1 VAR_044848 P04637:p.Arg158Pro SP substitution exon 1 VAR_044849 P04637:p.Arg158Gln SP substitution exon 1 VAR_044850 P04637:p.Arg158Ser SP substitution exon 1 VAR_044851 P04637:p.Ala159Asp SP substitution exon 1 VAR_044852 P04637:p.Ala159Gly SP substitution exon 1 VAR_044853 P04637:p.Ala159Pro SP substitution exon 1 VAR_044854 P04637:p.Ala159Ser SP substitution exon 1 VAR_044855 P04637:p.Ala159Thr SP substitution exon 1 VAR_044856 P04637:p.Ala159Val SP substitution exon 1 VAR_044857 P04637:p.Met160Lys SP substitution exon 1 VAR_044858 P04637:p.Met160Thr SP substitution exon 1 VAR_044859 P04637:p.Met160Val SP substitution exon 1 VAR_044860 P04637:p.Ala161Asp SP substitution exon 1 VAR_044861 P04637:p.Ala161Gly SP substitution exon 1 VAR_044862 P04637:p.Ala161Pro SP substitution exon 1 VAR_044863 P04637:p.Ala161Thr SP substitution exon 1 VAR_044864 P04637:p.Ala161Val SP substitution exon 1 VAR_044865 P04637:p.Ile162Phe SP substitution exon 1 VAR_044866 P04637:p.Ile162Met SP substitution exon 1 VAR_044867 P04637:p.Ile162Asn SP substitution exon 1 VAR_044868 P04637:p.Ile162Thr SP substitution exon 1 VAR_044869 P04637:p.Tyr163Asp SP substitution exon 1 VAR_044870 P04637:p.Tyr163Phe SP substitution exon 1 VAR_044871 P04637:p.Tyr163Asn SP substitution exon 1 VAR_044872 P04637:p.Tyr163Ser SP substitution exon 1 VAR_044873 P04637:p.Lys164Glu SP substitution exon 1 VAR_044874 P04637:p.Lys164Met SP substitution exon 1 VAR_044875 P04637:p.Lys164Arg SP substitution exon 1 VAR_044876 P04637:p.Lys164Thr SP substitution exon 1 VAR_044877 P04637:p.Gln165Glu SP substitution exon 1 VAR_044878 P04637:p.Gln165His SP substitution exon 1 VAR_044879 P04637:p.Gln165Pro SP substitution exon 1 VAR_044880 P04637:p.Ser166Ala SP substitution exon 1 VAR_044881 P04637:p.Ser166Gly SP substitution exon 1 VAR_044882 P04637:p.Ser166Pro SP substitution exon 1 VAR_044883 P04637:p.Ser166Thr SP substitution exon 1 VAR_044884 P04637:p.Gln167His SP substitution exon 1 VAR_044885 P04637:p.Gln167Lys SP substitution exon 1 VAR_044886 P04637:p.Gln167Leu SP substitution exon 1 VAR_044887 P04637:p.Gln167Arg SP substitution exon 1 VAR_044888 P04637:p.His168Asp SP substitution exon 1 VAR_044889 P04637:p.His168Leu SP substitution exon 1 VAR_044890 P04637:p.His168Asn SP substitution exon 1 VAR_044891 P04637:p.His168Pro SP substitution exon 1 VAR_044892 P04637:p.His168Gln SP substitution exon 1 VAR_044893 P04637:p.His168Tyr SP substitution exon 1 VAR_044894 P04637:p.Met169Lys SP substitution exon 1 VAR_044895 P04637:p.Met169Val SP substitution exon 1 VAR_044896 P04637:p.Thr170Ala SP substitution exon 1 VAR_044897 P04637:p.Thr170Lys SP substitution exon 1 VAR_044898 P04637:p.Thr170Pro SP substitution exon 1 VAR_044899 P04637:p.Glu171Ala SP substitution exon 1 VAR_044900 P04637:p.Glu171Asp SP substitution exon 1 VAR_044901 P04637:p.Glu171Gly SP substitution exon 1 VAR_044902 P04637:p.Glu171Lys SP substitution exon 1 VAR_044903 P04637:p.Glu171Gln SP substitution exon 1 VAR_044904 P04637:p.Glu171Val SP substitution exon 1 VAR_044905 P04637:p.Val172Asp SP substitution exon 1 VAR_044906 P04637:p.Val172Phe SP substitution exon 1 VAR_044907 P04637:p.Val172Gly SP substitution exon 1 VAR_044908 P04637:p.Val172Ile SP substitution exon 1 VAR_044909 P04637:p.Val173Ala SP substitution exon 1 VAR_044910 P04637:p.Val173Gly SP substitution exon 1 VAR_044911 P04637:p.Arg174Gly SP substitution exon 1 VAR_044912 P04637:p.Arg174Met SP substitution exon 1 VAR_044913 P04637:p.Arg174Ser SP substitution exon 1 VAR_044914 P04637:p.Arg174Thr SP substitution exon 1 VAR_044915 P04637:p.Arg174Trp SP substitution exon 1 VAR_044916 P04637:p.Arg175Gln SP substitution exon 1 VAR_044917 P04637:p.Arg175Ser SP substitution exon 1 VAR_044918 P04637:p.Cys176Gly SP substitution exon 1 VAR_044919 P04637:p.Cys176Arg SP substitution exon 1 VAR_044920 P04637:p.Cys176Ser SP substitution exon 1 VAR_044921 P04637:p.Cys176Tyr SP substitution exon 1 VAR_044922 P04637:p.Pro177Ala SP substitution exon 1 VAR_044923 P04637:p.Pro177His SP substitution exon 1 VAR_044924 P04637:p.Pro177Ser SP substitution exon 1 VAR_044925 P04637:p.Pro177Thr SP substitution exon 1 VAR_044926 P04637:p.His178Asp SP substitution exon 1 VAR_044927 P04637:p.His178Leu SP substitution exon 1 VAR_044928 P04637:p.His178Asn SP substitution exon 1 VAR_044929 P04637:p.His178Pro SP substitution exon 1 VAR_044930 P04637:p.His178Gln SP substitution exon 1 VAR_044931 P04637:p.His178Arg SP substitution exon 1 VAR_044932 P04637:p.His178Tyr SP substitution exon 1 VAR_044933 P04637:p.His179Asp SP substitution exon 1 VAR_044934 P04637:p.His179Leu SP substitution exon 1 VAR_044935 P04637:p.His179Asn SP substitution exon 1 VAR_044936 P04637:p.His179Pro SP substitution exon 1 VAR_044937 P04637:p.His179Gln SP substitution exon 1 VAR_044938 P04637:p.His179Arg SP substitution exon 1 VAR_044939 P04637:p.His179Tyr SP substitution exon 1 VAR_044940 P04637:p.Glu180Ala SP substitution exon 1 VAR_044941 P04637:p.Glu180Asp SP substitution exon 1 VAR_044942 P04637:p.Glu180Gly SP substitution exon 1 VAR_044943 P04637:p.Glu180Lys SP substitution exon 1 VAR_044944 P04637:p.Glu180Gln SP substitution exon 1 VAR_044945 P04637:p.Glu180Val SP substitution exon 1 VAR_044946 P04637:p.Arg181Cys SP substitution exon 1 VAR_044947 P04637:p.Arg181Gly SP substitution exon 1 VAR_044948 P04637:p.Arg181His SP substitution exon 1 VAR_044949 P04637:p.Arg181Pro SP substitution exon 1 VAR_044950 P04637:p.Arg181Ser SP substitution exon 1 VAR_044951 P04637:p.Cys182Arg SP substitution exon 1 VAR_044952 P04637:p.Cys182Tyr SP substitution exon 1 VAR_044953 P04637:p.Ser183Leu SP substitution exon 1 VAR_044954 P04637:p.Ser183Pro SP substitution exon 1 VAR_044955 P04637:p.Asp184Gly SP substitution exon 1 VAR_044956 P04637:p.Asp184His SP substitution exon 1 VAR_044957 P04637:p.Asp184Val SP substitution exon 1 VAR_044958 P04637:p.Ser185Cys SP substitution exon 1 VAR_044959 P04637:p.Ser185Gly SP substitution exon 1 VAR_044960 P04637:p.Ser185Ile SP substitution exon 1 VAR_044961 P04637:p.Ser185Asn SP substitution exon 1 VAR_044962 P04637:p.Ser185Arg SP substitution exon 1 VAR_044963 P04637:p.Ser185Thr SP substitution exon 1 VAR_044964 P04637:p.Asp186Glu SP substitution exon 1 VAR_044965 P04637:p.Asp186Gly SP substitution exon 1 VAR_044966 P04637:p.Asp186His SP substitution exon 1 VAR_044967 P04637:p.Asp186Asn SP substitution exon 1 VAR_044968 P04637:p.Asp186Val SP substitution exon 1 VAR_044969 P04637:p.Gly187Asp SP substitution exon 1 VAR_044970 P04637:p.Gly187Arg SP substitution exon 1 VAR_044971 P04637:p.Gly187Val SP substitution exon 1 VAR_044972 P04637:p.Leu188Pro SP substitution exon 1 VAR_044973 P04637:p.Leu188Val SP substitution exon 1 VAR_044974 P04637:p.Ala189Asp SP substitution exon 1 VAR_044975 P04637:p.Ala189Gly SP substitution exon 1 VAR_044976 P04637:p.Ala189Ser SP substitution exon 1 VAR_044977 P04637:p.Ala189Thr SP substitution exon 1 VAR_044978 P04637:p.Ala189Val SP substitution exon 1 VAR_044979 P04637:p.Pro190Ala SP substitution exon 1 VAR_044980 P04637:p.Pro190His SP substitution exon 1 VAR_044981 P04637:p.Pro190Arg SP substitution exon 1 VAR_044982 P04637:p.Pro190Ser SP substitution exon 1 VAR_044983 P04637:p.Pro190Thr SP substitution exon 1 VAR_044984 P04637:p.Pro191His SP substitution exon 1 VAR_044985 P04637:p.Pro191Leu SP substitution exon 1 VAR_044986 P04637:p.Pro191Arg SP substitution exon 1 VAR_044987 P04637:p.Pro191Ser SP substitution exon 1 VAR_044988 P04637:p.Gln192His SP substitution exon 1 VAR_044989 P04637:p.Gln192Lys SP substitution exon 1 VAR_044990 P04637:p.Gln192Leu SP substitution exon 1 VAR_044991 P04637:p.Gln192Pro SP substitution exon 1 VAR_044992 P04637:p.His193Leu SP substitution exon 1 VAR_044993 P04637:p.His193Asn SP substitution exon 1 VAR_044994 P04637:p.His193Pro SP substitution exon 1 VAR_044995 P04637:p.His193Gln SP substitution exon 1 VAR_044996 P04637:p.His193Tyr SP substitution exon 1 VAR_044997 P04637:p.Leu194Phe SP substitution exon 1 VAR_044998 P04637:p.Leu194His SP substitution exon 1 VAR_044999 P04637:p.Leu194Ile SP substitution exon 1 VAR_045000 P04637:p.Leu194Val SP substitution exon 1 VAR_045001 P04637:p.Ile195Phe SP substitution exon 1 VAR_045002 P04637:p.Ile195Asn SP substitution exon 1 VAR_045003 P04637:p.Ile195Ser SP substitution exon 1 VAR_045004 P04637:p.Ile195Val SP substitution exon 1 VAR_045005 P04637:p.Arg196Gly SP substitution exon 1 VAR_045006 P04637:p.Arg196Leu SP substitution exon 1 VAR_045007 P04637:p.Arg196Pro SP substitution exon 1 VAR_045008 P04637:p.Arg196Gln SP substitution exon 1 VAR_045009 P04637:p.Arg196Ser SP substitution exon 1 VAR_045010 P04637:p.Val197Glu SP substitution exon 1 VAR_045011 P04637:p.Val197Gly SP substitution exon 1 VAR_045012 P04637:p.Val197Leu SP substitution exon 1 VAR_045013 P04637:p.Val197Met SP substitution exon 1 VAR_045014 P04637:p.Glu198Asp SP substitution exon 1 VAR_045015 P04637:p.Glu198Gly SP substitution exon 1 VAR_045016 P04637:p.Glu198Gln SP substitution exon 1 VAR_045017 P04637:p.Glu198Val SP substitution exon 1 VAR_045018 P04637:p.Gly199Ala SP substitution exon 1 VAR_045019 P04637:p.Gly199Glu SP substitution exon 1 VAR_045020 P04637:p.Gly199Arg SP substitution exon 1 VAR_045021 P04637:p.Gly199Val SP substitution exon 1 VAR_045022 P04637:p.Asn200Asp SP substitution exon 1 VAR_045023 P04637:p.Asn200Ile SP substitution exon 1 VAR_045024 P04637:p.Asn200Lys SP substitution exon 1 VAR_045025 P04637:p.Asn200Ser SP substitution exon 1 VAR_045026 P04637:p.Asn200Thr SP substitution exon 1 VAR_045027 P04637:p.Leu201Phe SP substitution exon 1 VAR_045028 P04637:p.Leu201Pro SP substitution exon 1 VAR_045029 P04637:p.Leu201Ser SP substitution exon 1 VAR_045030 P04637:p.Arg202Cys SP substitution exon 1 VAR_045031 P04637:p.Arg202Gly SP substitution exon 1 VAR_045032 P04637:p.Arg202His SP substitution exon 1 VAR_045033 P04637:p.Arg202Leu SP substitution exon 1 VAR_045034 P04637:p.Arg202Pro SP substitution exon 1 VAR_045035 P04637:p.Arg202Ser SP substitution exon 1 VAR_045036 P04637:p.Val203Ala SP substitution exon 1 VAR_045037 P04637:p.Val203Glu SP substitution exon 1 VAR_045038 P04637:p.Val203Leu SP substitution exon 1 VAR_045039 P04637:p.Val203Met SP substitution exon 1 VAR_045040 P04637:p.Glu204Ala SP substitution exon 1 VAR_045041 P04637:p.Glu204Asp SP substitution exon 1 VAR_045042 P04637:p.Glu204Gly SP substitution exon 1 VAR_045043 P04637:p.Glu204Lys SP substitution exon 1 VAR_045044 P04637:p.Glu204Gln SP substitution exon 1 VAR_045045 P04637:p.Glu204Val SP substitution exon 1 VAR_045046 P04637:p.Tyr205His SP substitution exon 1 VAR_045047 P04637:p.Tyr205Asn SP substitution exon 1 VAR_045048 P04637:p.Tyr205Ser SP substitution exon 1 VAR_045049 P04637:p.Leu206Phe SP substitution exon 1 VAR_045050 P04637:p.Leu206Met SP substitution exon 1 VAR_045051 P04637:p.Asp207Glu SP substitution exon 1 VAR_045052 P04637:p.Asp207Gly SP substitution exon 1 VAR_045053 P04637:p.Asp207His SP substitution exon 1 VAR_045054 P04637:p.Asp207Asn SP substitution exon 1 VAR_045055 P04637:p.Asp207Val SP substitution exon 1 VAR_045056 P04637:p.Asp207Tyr SP substitution exon 1 VAR_045057 P04637:p.Asp208Glu SP substitution exon 1 VAR_045058 P04637:p.Asp208Gly SP substitution exon 1 VAR_045059 P04637:p.Asp208His SP substitution exon 1 VAR_045060 P04637:p.Asp208Asn SP substitution exon 1 VAR_045061 P04637:p.Asp208Val SP substitution exon 1 VAR_045062 P04637:p.Asp208Tyr SP substitution exon 1 VAR_045063 P04637:p.Arg209Ile SP substitution exon 1 VAR_045064 P04637:p.Arg209Lys SP substitution exon 1 VAR_045065 P04637:p.Arg209Ser SP substitution exon 1 VAR_045066 P04637:p.Arg209Thr SP substitution exon 1 VAR_045067 P04637:p.Asn210Asp SP substitution exon 1 VAR_045068 P04637:p.Asn210His SP substitution exon 1 VAR_045069 P04637:p.Asn210Ile SP substitution exon 1 VAR_045070 P04637:p.Asn210Lys SP substitution exon 1 VAR_045071 P04637:p.Asn210Ser SP substitution exon 1 VAR_045072 P04637:p.Asn210Thr SP substitution exon 1 VAR_045073 P04637:p.Asn210Tyr SP substitution exon 1 VAR_045074 P04637:p.Thr211Ala SP substitution exon 1 VAR_045075 P04637:p.Thr211Ile SP substitution exon 1 VAR_045076 P04637:p.Thr211Asn SP substitution exon 1 VAR_045077 P04637:p.Thr211Pro SP substitution exon 1 VAR_045078 P04637:p.Thr211Ser SP substitution exon 1 VAR_045079 P04637:p.Phe212Ile SP substitution exon 1 VAR_045080 P04637:p.Phe212Leu SP substitution exon 1 VAR_045081 P04637:p.Phe212Ser SP substitution exon 1 VAR_045082 P04637:p.Phe212Val SP substitution exon 1 VAR_045083 P04637:p.Phe212Tyr SP substitution exon 1 VAR_045084 P04637:p.Arg213Gly SP substitution exon 1 VAR_045085 P04637:p.Arg213Leu SP substitution exon 1 VAR_045086 P04637:p.Arg213Trp SP substitution exon 1 VAR_045087 P04637:p.His214Asp SP substitution exon 1 VAR_045088 P04637:p.His214Pro SP substitution exon 1 VAR_045089 P04637:p.His214Arg SP substitution exon 1 VAR_045090 P04637:p.His214Tyr SP substitution exon 1 VAR_045091 P04637:p.Ser215Cys SP substitution exon 1 VAR_045092 P04637:p.Ser215Gly SP substitution exon 1 VAR_045093 P04637:p.Ser215Ile SP substitution exon 1 VAR_045094 P04637:p.Ser215Asn SP substitution exon 1 VAR_045095 P04637:p.Ser215Arg SP substitution exon 1 VAR_045096 P04637:p.Ser215Thr SP substitution exon 1 VAR_045097 P04637:p.Val216Ala SP substitution exon 1 VAR_045098 P04637:p.Val216Glu SP substitution exon 1 VAR_045099 P04637:p.Val216Gly SP substitution exon 1 VAR_045100 P04637:p.Val216Leu SP substitution exon 1 VAR_045101 P04637:p.Val217Ala SP substitution exon 1 VAR_045102 P04637:p.Val217Glu SP substitution exon 1 VAR_045103 P04637:p.Val217Gly SP substitution exon 1 VAR_045104 P04637:p.Val217Ile SP substitution exon 1 VAR_045105 P04637:p.Val217Leu SP substitution exon 1 VAR_045106 P04637:p.Val218Ala SP substitution exon 1 VAR_045107 P04637:p.Val218Glu SP substitution exon 1 VAR_045108 P04637:p.Val218Gly SP substitution exon 1 VAR_045109 P04637:p.Val218Leu SP substitution exon 1 VAR_045110 P04637:p.Val218Met SP substitution exon 1 VAR_045111 P04637:p.Pro219His SP substitution exon 1 VAR_045112 P04637:p.Pro219Leu SP substitution exon 1 VAR_045113 P04637:p.Pro219Arg SP substitution exon 1 VAR_045114 P04637:p.Pro219Ser SP substitution exon 1 VAR_045115 P04637:p.Pro219Thr SP substitution exon 1 VAR_045116 P04637:p.Tyr220Asp SP substitution exon 1 VAR_045117 P04637:p.Tyr220Phe SP substitution exon 1 VAR_045118 P04637:p.Tyr220Asn SP substitution exon 1 VAR_045119 P04637:p.Glu221Ala SP substitution exon 1 VAR_045120 P04637:p.Glu221Asp SP substitution exon 1 VAR_045121 P04637:p.Glu221Gly SP substitution exon 1 VAR_045122 P04637:p.Glu221Lys SP substitution exon 1 VAR_045123 P04637:p.Glu221Gln SP substitution exon 1 VAR_045124 P04637:p.Pro222Ala SP substitution exon 1 VAR_045125 P04637:p.Pro222Leu SP substitution exon 1 VAR_045126 P04637:p.Pro222Gln SP substitution exon 1 VAR_045127 P04637:p.Pro222Arg SP substitution exon 1 VAR_045128 P04637:p.Pro222Ser SP substitution exon 1 VAR_045129 P04637:p.Pro222Thr SP substitution exon 1 VAR_045130 P04637:p.Pro223His SP substitution exon 1 VAR_045131 P04637:p.Pro223Leu SP substitution exon 1 VAR_045132 P04637:p.Pro223Arg SP substitution exon 1 VAR_045133 P04637:p.Pro223Ser SP substitution exon 1 VAR_045134 P04637:p.Pro223Thr SP substitution exon 1 VAR_045135 P04637:p.Glu224Asp SP substitution exon 1 VAR_045136 P04637:p.Glu224Gly SP substitution exon 1 VAR_045137 P04637:p.Glu224Lys SP substitution exon 1 VAR_045138 P04637:p.Glu224Val SP substitution exon 1 VAR_045139 P04637:p.Val225Ala SP substitution exon 1 VAR_045140 P04637:p.Val225Asp SP substitution exon 1 VAR_045141 P04637:p.Val225Phe SP substitution exon 1 VAR_045142 P04637:p.Val225Gly SP substitution exon 1 VAR_045143 P04637:p.Val225Ile SP substitution exon 1 VAR_045144 P04637:p.Val225Leu SP substitution exon 1 VAR_045145 P04637:p.Gly226Ala SP substitution exon 1 VAR_045146 P04637:p.Gly226Ser SP substitution exon 1 VAR_045147 P04637:p.Gly226Val SP substitution exon 1 VAR_045148 P04637:p.Ser227Cys SP substitution exon 1 VAR_045149 P04637:p.Ser227Phe SP substitution exon 1 VAR_045150 P04637:p.Ser227Pro SP substitution exon 1 VAR_045151 P04637:p.Ser227Thr SP substitution exon 1 VAR_045152 P04637:p.Asp228Ala SP substitution exon 1 VAR_045153 P04637:p.Asp228Gly SP substitution exon 1 VAR_045154 P04637:p.Asp228His SP substitution exon 1 VAR_045155 P04637:p.Asp228Asn SP substitution exon 1 VAR_045156 P04637:p.Asp228Val SP substitution exon 1 VAR_045157 P04637:p.Asp228Tyr SP substitution exon 1 VAR_045158 P04637:p.Cys229Gly SP substitution exon 1 VAR_045159 P04637:p.Cys229Arg SP substitution exon 1 VAR_045160 P04637:p.Cys229Ser SP substitution exon 1 VAR_045161 P04637:p.Cys229Tyr SP substitution exon 1 VAR_045162 P04637:p.Thr230Ala SP substitution exon 1 VAR_045163 P04637:p.Thr230Asn SP substitution exon 1 VAR_045164 P04637:p.Thr230Pro SP substitution exon 1 VAR_045165 P04637:p.Thr230Ser SP substitution exon 1 VAR_045166 P04637:p.Thr231Ala SP substitution exon 1 VAR_045167 P04637:p.Thr231Ile SP substitution exon 1 VAR_045168 P04637:p.Thr231Asn SP substitution exon 1 VAR_045169 P04637:p.Thr231Ser SP substitution exon 1 VAR_045170 P04637:p.Ile232Phe SP substitution exon 1 VAR_045171 P04637:p.Ile232Leu SP substitution exon 1 VAR_045172 P04637:p.Ile232Asn SP substitution exon 1 VAR_045173 P04637:p.Ile232Ser SP substitution exon 1 VAR_045174 P04637:p.Ile232Val SP substitution exon 1 VAR_045175 P04637:p.His233Asp SP substitution exon 1 VAR_045176 P04637:p.His233Leu SP substitution exon 1 VAR_045177 P04637:p.His233Pro SP substitution exon 1 VAR_045178 P04637:p.His233Gln SP substitution exon 1 VAR_045179 P04637:p.His233Tyr SP substitution exon 1 VAR_045180 P04637:p.Tyr234Asp SP substitution exon 1 VAR_045181 P04637:p.Tyr234Phe SP substitution exon 1 VAR_045182 P04637:p.Tyr234Asn SP substitution exon 1 VAR_045183 P04637:p.Tyr234Ser SP substitution exon 1 VAR_045184 P04637:p.Asn235His SP substitution exon 1 VAR_045185 P04637:p.Asn235Ile SP substitution exon 1 VAR_045186 P04637:p.Asn235Ser SP substitution exon 1 VAR_045187 P04637:p.Asn235Thr SP substitution exon 1 VAR_045188 P04637:p.Asn235Tyr SP substitution exon 1 VAR_045189 P04637:p.Tyr236Cys SP substitution exon 1 VAR_045190 P04637:p.Tyr236Asp SP substitution exon 1 VAR_045191 P04637:p.Tyr236Phe SP substitution exon 1 VAR_045192 P04637:p.Tyr236His SP substitution exon 1 VAR_045193 P04637:p.Tyr236Asn SP substitution exon 1 VAR_045194 P04637:p.Tyr236Ser SP substitution exon 1 VAR_045195 P04637:p.Met237Lys SP substitution exon 1 VAR_045196 P04637:p.Met237Leu SP substitution exon 1 VAR_045197 P04637:p.Met237Arg SP substitution exon 1 VAR_045198 P04637:p.Met237Thr SP substitution exon 1 VAR_045199 P04637:p.Met237Val SP substitution exon 1 VAR_045200 P04637:p.Cys238Gly SP substitution exon 1 VAR_045201 P04637:p.Cys238Arg SP substitution exon 1 VAR_045202 P04637:p.Cys238Ser SP substitution exon 1 VAR_045203 P04637:p.Cys238Trp SP substitution exon 1 VAR_045204 P04637:p.Asn239Asp SP substitution exon 1 VAR_045205 P04637:p.Asn239His SP substitution exon 1 VAR_045206 P04637:p.Asn239Ile SP substitution exon 1 VAR_045207 P04637:p.Asn239Lys SP substitution exon 1 VAR_045208 P04637:p.Asn239Ser SP substitution exon 1 VAR_045209 P04637:p.Asn239Thr SP substitution exon 1 VAR_045210 P04637:p.Asn239Tyr SP substitution exon 1 VAR_045211 P04637:p.Ser240Cys SP substitution exon 1 VAR_045212 P04637:p.Ser240Gly SP substitution exon 1 VAR_045213 P04637:p.Ser240Asn SP substitution exon 1 VAR_045214 P04637:p.Ser240Pro SP substitution exon 1 VAR_045215 P04637:p.Ser240Arg SP substitution exon 1 VAR_045216 P04637:p.Ser240Thr SP substitution exon 1 VAR_045217 P04637:p.Ser241Cys SP substitution exon 1 VAR_045218 P04637:p.Ser241Pro SP substitution exon 1 VAR_045219 P04637:p.Ser241Tyr SP substitution exon 1 VAR_045220 P04637:p.Cys242Gly SP substitution exon 1 VAR_045221 P04637:p.Cys242Arg SP substitution exon 1 VAR_045222 P04637:p.Cys242Ser SP substitution exon 1 VAR_045223 P04637:p.Cys242Trp SP substitution exon 1 VAR_045224 P04637:p.Cys242Tyr SP substitution exon 1 VAR_045225 P04637:p.Met243Ile SP substitution exon 1 VAR_045226 P04637:p.Met243Lys SP substitution exon 1 VAR_045227 P04637:p.Met243Leu SP substitution exon 1 VAR_045228 P04637:p.Met243Arg SP substitution exon 1 VAR_045229 P04637:p.Met243Thr SP substitution exon 1 VAR_045230 P04637:p.Met243Val SP substitution exon 1 VAR_045231 P04637:p.Gly244Cys SP substitution exon 1 VAR_045232 P04637:p.Gly244Asp SP substitution exon 1 VAR_045233 P04637:p.Gly244Glu SP substitution exon 1 VAR_045234 P04637:p.Gly244Arg SP substitution exon 1 VAR_045235 P04637:p.Gly244Ser SP substitution exon 1 VAR_045236 P04637:p.Gly244Val SP substitution exon 1 VAR_045237 P04637:p.Gly245Glu SP substitution exon 1 VAR_045238 P04637:p.Gly245Arg SP substitution exon 1 VAR_045239 P04637:p.Met246Ile SP substitution exon 1 VAR_045240 P04637:p.Met246Lys SP substitution exon 1 VAR_045241 P04637:p.Asn247Asp SP substitution exon 1 VAR_045242 P04637:p.Asn247Lys SP substitution exon 1 VAR_045243 P04637:p.Asn247Ser SP substitution exon 1 VAR_045244 P04637:p.Asn247Tyr SP substitution exon 1 VAR_045245 P04637:p.Arg248Cys SP substitution exon 1 VAR_045246 P04637:p.Arg248Pro SP substitution exon 1 VAR_045247 P04637:p.Arg249Ile SP substitution exon 1 VAR_045248 P04637:p.Arg249Lys SP substitution exon 1 VAR_045249 P04637:p.Arg249Thr SP substitution exon 1 VAR_045250 P04637:p.Arg249Trp SP substitution exon 1 VAR_045251 P04637:p.Pro250Ala SP substitution exon 1 VAR_045252 P04637:p.Pro250His SP substitution exon 1 VAR_045253 P04637:p.Pro250Gln SP substitution exon 1 VAR_045254 P04637:p.Pro250Ser SP substitution exon 1 VAR_045255 P04637:p.Pro250Thr SP substitution exon 1 VAR_045256 P04637:p.Ile251Phe SP substitution exon 1 VAR_045257 P04637:p.Ile251Leu SP substitution exon 1 VAR_045258 P04637:p.Ile251Met SP substitution exon 1 VAR_045259 P04637:p.Ile251Thr SP substitution exon 1 VAR_045260 P04637:p.Ile251Val SP substitution exon 1 VAR_045261 P04637:p.Leu252Phe SP substitution exon 1 VAR_045262 P04637:p.Leu252His SP substitution exon 1 VAR_045263 P04637:p.Leu252Ile SP substitution exon 1 VAR_045264 P04637:p.Leu252Val SP substitution exon 1 VAR_045265 P04637:p.Thr253Ala SP substitution exon 1 VAR_045266 P04637:p.Thr253Ile SP substitution exon 1 VAR_045267 P04637:p.Thr253Asn SP substitution exon 1 VAR_045268 P04637:p.Thr253Ser SP substitution exon 1 VAR_045269 P04637:p.Ile254Phe SP substitution exon 1 VAR_045270 P04637:p.Ile254Leu SP substitution exon 1 VAR_045271 P04637:p.Ile254Met SP substitution exon 1 VAR_045272 P04637:p.Ile254Ser SP substitution exon 1 VAR_045273 P04637:p.Ile254Val SP substitution exon 1 VAR_045274 P04637:p.Ile255Phe SP substitution exon 1 VAR_045275 P04637:p.Ile255Met SP substitution exon 1 VAR_045276 P04637:p.Ile255Asn SP substitution exon 1 VAR_045277 P04637:p.Ile255Ser SP substitution exon 1 VAR_045278 P04637:p.Ile255Thr SP substitution exon 1 VAR_045279 P04637:p.Ile255Val SP substitution exon 1 VAR_045280 P04637:p.Thr256Ile SP substitution exon 1 VAR_045281 P04637:p.Thr256Lys SP substitution exon 1 VAR_045282 P04637:p.Thr256Pro SP substitution exon 1 VAR_045283 P04637:p.Thr256Ser SP substitution exon 1 VAR_045284 P04637:p.Leu257Gln SP substitution exon 1 VAR_045285 P04637:p.Leu257Arg SP substitution exon 1 VAR_045286 P04637:p.Leu257Val SP substitution exon 1 VAR_045287 P04637:p.Glu258Ala SP substitution exon 1 VAR_045288 P04637:p.Glu258Gly SP substitution exon 1 VAR_045289 P04637:p.Glu258Gln SP substitution exon 1 VAR_045290 P04637:p.Glu258Val SP substitution exon 1 VAR_045291 P04637:p.Asp259Glu SP substitution exon 1 VAR_045292 P04637:p.Asp259Gly SP substitution exon 1 VAR_045293 P04637:p.Asp259His SP substitution exon 1 VAR_045294 P04637:p.Asp259Asn SP substitution exon 1 VAR_045295 P04637:p.Asp259Val SP substitution exon 1 VAR_045296 P04637:p.Ser260Ala SP substitution exon 1 VAR_045297 P04637:p.Ser260Cys SP substitution exon 1 VAR_045298 P04637:p.Ser260Phe SP substitution exon 1 VAR_045299 P04637:p.Ser260Pro SP substitution exon 1 VAR_045300 P04637:p.Ser260Thr SP substitution exon 1 VAR_045301 P04637:p.Ser260Tyr SP substitution exon 1 VAR_045302 P04637:p.Ser261Cys SP substitution exon 1 VAR_045303 P04637:p.Ser261Gly SP substitution exon 1 VAR_045304 P04637:p.Ser261Ile SP substitution exon 1 VAR_045305 P04637:p.Ser261Asn SP substitution exon 1 VAR_045306 P04637:p.Ser261Arg SP substitution exon 1 VAR_045307 P04637:p.Gly262Cys SP substitution exon 1 VAR_045308 P04637:p.Gly262Ser SP substitution exon 1 VAR_045309 P04637:p.Gly262Val SP substitution exon 1 VAR_045310 P04637:p.Asn263Asp SP substitution exon 1 VAR_045311 P04637:p.Asn263His SP substitution exon 1 VAR_045312 P04637:p.Asn263Ile SP substitution exon 1 VAR_045313 P04637:p.Asn263Lys SP substitution exon 1 VAR_045314 P04637:p.Asn263Ser SP substitution exon 1 VAR_045315 P04637:p.Leu264Ile SP substitution exon 1 VAR_045316 P04637:p.Leu264Pro SP substitution exon 1 VAR_045317 P04637:p.Leu264Gln SP substitution exon 1 VAR_045318 P04637:p.Leu264Arg SP substitution exon 1 VAR_045319 P04637:p.Leu264Val SP substitution exon 1 VAR_045320 P04637:p.Leu265Met SP substitution exon 1 VAR_045321 P04637:p.Leu265Pro SP substitution exon 1 VAR_045322 P04637:p.Leu265Gln SP substitution exon 1 VAR_045323 P04637:p.Gly266Ala SP substitution exon 1 VAR_045324 P04637:p.Gly266Glu SP substitution exon 1 VAR_045325 P04637:p.Gly266Arg SP substitution exon 1 VAR_045326 P04637:p.Gly266Val SP substitution exon 1 VAR_045327 P04637:p.Arg267Gly SP substitution exon 1 VAR_045328 P04637:p.Arg267His SP substitution exon 1 VAR_045329 P04637:p.Arg267Pro SP substitution exon 1 VAR_045330 P04637:p.Arg267Gln SP substitution exon 1 VAR_045331 P04637:p.Asn268His SP substitution exon 1 VAR_045332 P04637:p.Asn268Ile SP substitution exon 1 VAR_045333 P04637:p.Asn268Lys SP substitution exon 1 VAR_045334 P04637:p.Asn268Ser SP substitution exon 1 VAR_045335 P04637:p.Asn268Tyr SP substitution exon 1 VAR_045336 P04637:p.Ser269Cys SP substitution exon 1 VAR_045337 P04637:p.Ser269Gly SP substitution exon 1 VAR_045338 P04637:p.Ser269Asn SP substitution exon 1 VAR_045339 P04637:p.Ser269Arg SP substitution exon 1 VAR_045340 P04637:p.Ser269Thr SP substitution exon 1 VAR_045341 P04637:p.Phe270Cys SP substitution exon 1 VAR_045342 P04637:p.Phe270Ile SP substitution exon 1 VAR_045343 P04637:p.Phe270Leu SP substitution exon 1 VAR_045344 P04637:p.Phe270Ser SP substitution exon 1 VAR_045345 P04637:p.Phe270Val SP substitution exon 1 VAR_045346 P04637:p.Phe270Tyr SP substitution exon 1 VAR_045347 P04637:p.Glu271Ala SP substitution exon 1 VAR_045348 P04637:p.Glu271Asp SP substitution exon 1 VAR_045349 P04637:p.Glu271Gly SP substitution exon 1 VAR_045350 P04637:p.Glu271Gln SP substitution exon 1 VAR_045351 P04637:p.Val272Ala SP substitution exon 1 VAR_045352 P04637:p.Val272Glu SP substitution exon 1 VAR_045353 P04637:p.Val272Gly SP substitution exon 1 VAR_045354 P04637:p.Val272Met SP substitution exon 1 VAR_045355 P04637:p.Arg273Pro SP substitution exon 1 VAR_045356 P04637:p.Arg273Gln SP substitution exon 1 VAR_045357 P04637:p.Arg273Ser SP substitution exon 1 VAR_045358 P04637:p.Val274Ala SP substitution exon 1 VAR_045359 P04637:p.Val274Asp SP substitution exon 1 VAR_045360 P04637:p.Val274Ile SP substitution exon 1 VAR_045361 P04637:p.Val274Leu SP substitution exon 1 VAR_045362 P04637:p.Cys275Phe SP substitution exon 1 VAR_045363 P04637:p.Cys275Gly SP substitution exon 1 VAR_045364 P04637:p.Cys275Arg SP substitution exon 1 VAR_045365 P04637:p.Cys275Ser SP substitution exon 1 VAR_045366 P04637:p.Ala276Asp SP substitution exon 1 VAR_045367 P04637:p.Ala276Gly SP substitution exon 1 VAR_045368 P04637:p.Ala276Pro SP substitution exon 1 VAR_045369 P04637:p.Ala276Ser SP substitution exon 1 VAR_045370 P04637:p.Ala276Thr SP substitution exon 1 VAR_045371 P04637:p.Ala276Val SP substitution exon 1 VAR_045372 P04637:p.Cys277Phe SP substitution exon 1 VAR_045373 P04637:p.Cys277Arg SP substitution exon 1 VAR_045374 P04637:p.Cys277Ser SP substitution exon 1 VAR_045375 P04637:p.Cys277Tyr SP substitution exon 1 VAR_045376 P04637:p.Pro278Arg SP substitution exon 1 VAR_045377 P04637:p.Gly279Arg SP substitution exon 1 VAR_045378 P04637:p.Gly279Val SP substitution exon 1 VAR_045379 P04637:p.Gly279Trp SP substitution exon 1 VAR_045380 P04637:p.Arg280Gly SP substitution exon 1 VAR_045381 P04637:p.Arg280Pro SP substitution exon 1 VAR_045382 P04637:p.Arg280Ser SP substitution exon 1 VAR_045383 P04637:p.Asp281Tyr SP substitution exon 1 VAR_045384 P04637:p.Arg282Gly SP substitution exon 1 VAR_045385 P04637:p.Arg282His SP substitution exon 1 VAR_045386 P04637:p.Arg282Pro SP substitution exon 1 VAR_045387 P04637:p.Arg282Gln SP substitution exon 1 VAR_045388 P04637:p.Arg283Leu SP substitution exon 1 VAR_045389 P04637:p.Arg283Ser SP substitution exon 1 VAR_045390 P04637:p.Thr284Ile SP substitution exon 1 VAR_045391 P04637:p.Thr284Lys SP substitution exon 1 VAR_045392 P04637:p.Glu285Ala SP substitution exon 1 VAR_045393 P04637:p.Glu285Asp SP substitution exon 1 VAR_045394 P04637:p.Glu285Gly SP substitution exon 1 VAR_045395 P04637:p.Glu286Val SP substitution exon 1 VAR_045396 P04637:p.Glu287Asp SP substitution exon 1 VAR_045397 P04637:p.Glu287Gly SP substitution exon 1 VAR_045398 P04637:p.Glu287Lys SP substitution exon 1 VAR_045399 P04637:p.Glu287Val SP substitution exon 1 VAR_045400 P04637:p.Asn288Asp SP substitution exon 1 VAR_045401 P04637:p.Asn288Lys SP substitution exon 1 VAR_045402 P04637:p.Asn288Ser SP substitution exon 1 VAR_045403 P04637:p.Asn288Thr SP substitution exon 1 VAR_045404 P04637:p.Asn288Tyr SP substitution exon 1 VAR_045405 P04637:p.Leu289Phe SP substitution exon 1 VAR_045406 P04637:p.Leu289His SP substitution exon 1 VAR_045407 P04637:p.Leu289Pro SP substitution exon 1 VAR_045408 P04637:p.Leu289Arg SP substitution exon 1 VAR_045409 P04637:p.Leu289Val SP substitution exon 1 VAR_045410 P04637:p.Arg290Cys SP substitution exon 1 VAR_045411 P04637:p.Arg290His SP substitution exon 1 VAR_045412 P04637:p.Arg290Leu SP substitution exon 1 VAR_045413 P04637:p.Lys291Glu SP substitution exon 1 VAR_045414 P04637:p.Lys291Met SP substitution exon 1 VAR_045415 P04637:p.Lys291Asn SP substitution exon 1 VAR_045416 P04637:p.Lys291Arg SP substitution exon 1 VAR_045417 P04637:p.Lys291Thr SP substitution exon 1 VAR_045418 P04637:p.Lys292Glu SP substitution exon 1 VAR_045419 P04637:p.Lys292Asn SP substitution exon 1 VAR_045420 P04637:p.Lys292Gln SP substitution exon 1 VAR_045421 P04637:p.Lys292Arg SP substitution exon 1 VAR_045422 P04637:p.Lys292Thr SP substitution exon 1 VAR_045423 P04637:p.Gly293Ala SP substitution exon 1 VAR_045424 P04637:p.Gly293Arg SP substitution exon 1 VAR_045425 P04637:p.Gly293Val SP substitution exon 1 VAR_045426 P04637:p.Gly293Trp SP substitution exon 1 VAR_045427 P04637:p.Glu294Ala SP substitution exon 1 VAR_045428 P04637:p.Glu294Asp SP substitution exon 1 VAR_045429 P04637:p.Glu294Gly SP substitution exon 1 VAR_045430 P04637:p.Glu294Gln SP substitution exon 1 VAR_045431 P04637:p.Glu294Val SP substitution exon 1 VAR_045432 P04637:p.Pro295His SP substitution exon 1 VAR_045433 P04637:p.Pro295Leu SP substitution exon 1 VAR_045434 P04637:p.Pro295Arg SP substitution exon 1 VAR_045435 P04637:p.Pro295Ser SP substitution exon 1 VAR_045436 P04637:p.His296Asp SP substitution exon 1 VAR_045437 P04637:p.His296Asn SP substitution exon 1 VAR_045438 P04637:p.His296Gln SP substitution exon 1 VAR_045439 P04637:p.His296Arg SP substitution exon 1 VAR_045440 P04637:p.His296Tyr SP substitution exon 1 VAR_045441 P04637:p.His297Asp SP substitution exon 1 VAR_045442 P04637:p.His297Asn SP substitution exon 1 VAR_045443 P04637:p.His297Pro SP substitution exon 1 VAR_045444 P04637:p.His297Arg SP substitution exon 1 VAR_045445 P04637:p.His297Tyr SP substitution exon 1 VAR_045446 P04637:p.Glu298Ala SP substitution exon 1 VAR_045447 P04637:p.Glu298Asp SP substitution exon 1 VAR_045448 P04637:p.Glu298Lys SP substitution exon 1 VAR_045449 P04637:p.Glu298Gln SP substitution exon 1 VAR_045450 P04637:p.Glu298Val SP substitution exon 1 VAR_045451 P04637:p.Leu299Pro SP substitution exon 1 VAR_045452 P04637:p.Leu299Gln SP substitution exon 1 VAR_045453 P04637:p.Leu299Arg SP substitution exon 1 VAR_045454 P04637:p.Leu299Val SP substitution exon 1 VAR_045455 P04637:p.Pro300Ala SP substitution exon 1 VAR_045456 P04637:p.Pro300Leu SP substitution exon 1 VAR_045457 P04637:p.Pro300Ser SP substitution exon 1 VAR_045458 P04637:p.Pro301Ala SP substitution exon 1 VAR_045459 P04637:p.Pro301Gln SP substitution exon 1 VAR_045460 P04637:p.Pro301Ser SP substitution exon 1 VAR_045461 P04637:p.Gly302Ala SP substitution exon 1 VAR_045462 P04637:p.Gly302Arg SP substitution exon 1 VAR_045463 P04637:p.Ser303Cys SP substitution exon 1 VAR_045464 P04637:p.Ser303Ile SP substitution exon 1 VAR_045465 P04637:p.Ser303Asn SP substitution exon 1 VAR_045466 P04637:p.Ser303Thr SP substitution exon 1 VAR_045467 P04637:p.Thr304Ala SP substitution exon 1 VAR_045468 P04637:p.Thr304Ile SP substitution exon 1 VAR_045469 P04637:p.Thr304Asn SP substitution exon 1 VAR_045470 P04637:p.Lys305Glu SP substitution exon 1 VAR_045471 P04637:p.Lys305Met SP substitution exon 1 VAR_045472 P04637:p.Lys305Asn SP substitution exon 1 VAR_045473 P04637:p.Lys305Arg SP substitution exon 1 VAR_045474 P04637:p.Lys305Thr SP substitution exon 1 VAR_045475 P04637:p.Arg306Pro SP substitution exon 1 VAR_045476 P04637:p.Ala307Pro SP substitution exon 1 VAR_045477 P04637:p.Ala307Ser SP substitution exon 1 VAR_045478 P04637:p.Leu308Met SP substitution exon 1 VAR_045479 P04637:p.Leu308Val SP substitution exon 1 VAR_045480 P04637:p.Pro309Arg SP substitution exon 1 VAR_045481 P04637:p.Asn310Ile SP substitution exon 1 VAR_045482 P04637:p.Asn310Thr SP substitution exon 1 VAR_045483 P04637:p.Asn311His SP substitution exon 1 VAR_045484 P04637:p.Asn311Lys SP substitution exon 1 VAR_045485 P04637:p.Asn311Ser SP substitution exon 1 VAR_045486 P04637:p.Asn311Thr SP substitution exon 1 VAR_045487 P04637:p.Thr312Ile SP substitution exon 1 VAR_045488 P04637:p.Thr312Ser SP substitution exon 1 VAR_045489 P04637:p.Ser313Cys SP substitution exon 1 VAR_045490 P04637:p.Ser313Ile SP substitution exon 1 VAR_045491 P04637:p.Ser313Asn SP substitution exon 1 VAR_045492 P04637:p.Ser313Arg SP substitution exon 1 VAR_045493 P04637:p.Ser314Phe SP substitution exon 1 VAR_045494 P04637:p.Ser315Cys SP substitution exon 1 VAR_045495 P04637:p.Ser315Phe SP substitution exon 1 VAR_045496 P04637:p.Ser315Pro SP substitution exon 1 VAR_045497 P04637:p.Pro316Leu SP substitution exon 1 VAR_045498 P04637:p.Pro316Thr SP substitution exon 1 VAR_045499 P04637:p.Gln317His SP substitution exon 1 VAR_045500 P04637:p.Gln317Lys SP substitution exon 1 VAR_045501 P04637:p.Gln317Pro SP substitution exon 1 VAR_045502 P04637:p.Gln317Arg SP substitution exon 1 VAR_045503 P04637:p.Pro318Leu SP substitution exon 1 VAR_045504 P04637:p.Lys319Glu SP substitution exon 1 VAR_045505 P04637:p.Lys319Asn SP substitution exon 1 VAR_045506 P04637:p.Lys319Arg SP substitution exon 1 VAR_045507 P04637:p.Lys320Asn SP substitution exon 1 VAR_045508 P04637:p.Lys321Glu SP substitution exon 1 VAR_045509 P04637:p.Lys321Arg SP substitution exon 1 VAR_045510 P04637:p.Pro322Leu SP substitution exon 1 VAR_045511 P04637:p.Pro322Arg SP substitution exon 1 VAR_045512 P04637:p.Leu323Met SP substitution exon 1 VAR_045513 P04637:p.Leu323Pro SP substitution exon 1 VAR_045514 P04637:p.Leu323Arg SP substitution exon 1 VAR_045515 P04637:p.Asp324Glu SP substitution exon 1 VAR_045516 P04637:p.Asp324Tyr SP substitution exon 1 VAR_045517 P04637:p.Gly325Ala SP substitution exon 1 VAR_045518 P04637:p.Gly325Glu SP substitution exon 1 VAR_045519 P04637:p.Glu326Gly SP substitution exon 1 VAR_045520 P04637:p.Tyr327His SP substitution exon 1 VAR_045521 P04637:p.Tyr327Ser SP substitution exon 1 VAR_045522 P04637:p.Phe328Leu SP substitution exon 1 VAR_045523 P04637:p.Phe328Ser SP substitution exon 1 VAR_045524 P04637:p.Phe328Val SP substitution exon 1 VAR_045525 P04637:p.Thr329Ile SP substitution exon 1 VAR_045526 P04637:p.Thr329Ser SP substitution exon 1 VAR_045527 P04637:p.Leu330His SP substitution exon 1 VAR_045528 P04637:p.Leu330Arg SP substitution exon 1 VAR_045529 P04637:p.Gln331His SP substitution exon 1 VAR_045530 P04637:p.Gln331Pro SP substitution exon 1 VAR_045531 P04637:p.Gln331Arg SP substitution exon 1 VAR_045532 P04637:p.Ile332Val SP substitution exon 1 VAR_045533 P04637:p.Gly334Trp SP substitution exon 1 VAR_045534 P04637:p.Arg335Gly SP substitution exon 1 VAR_045535 P04637:p.Arg335His SP substitution exon 1 VAR_045536 P04637:p.Arg335Leu SP substitution exon 1 VAR_045537 P04637:p.Arg337Leu SP substitution exon 1 VAR_045538 P04637:p.Arg337Pro SP substitution exon 1 VAR_045539 P04637:p.Phe338Ile SP substitution exon 1 VAR_045540 P04637:p.Phe338Leu SP substitution exon 1 VAR_045541 P04637:p.Glu339Gln SP substitution exon 1 VAR_045542 P04637:p.Phe341Cys SP substitution exon 1 VAR_045543 P04637:p.Arg342Leu SP substitution exon 1 VAR_045544 P04637:p.Arg342Pro SP substitution exon 1 VAR_045545 P04637:p.Glu343Gly SP substitution exon 1 VAR_045546 P04637:p.Leu344Pro SP substitution exon 1 VAR_045547 P04637:p.Leu344Arg SP substitution exon 1 VAR_045576 Q8NI60:p.Ile341Thr SP substitution exon 1 VAR_045581 Q13554:p.Pro489Leu SP substitution exon 1 VAR_045582 Q13554:p.Glu510Lys SP substitution exon 1 VAR_045591 Q86TB3:p.Glu942Lys SP substitution exon 1 VAR_045596 P30530:p.Thr112Met SP substitution exon 1 VAR_045597 P30530:p.Arg295Trp SP substitution exon 1 VAR_045598 Q7L2R6:p.Ser389Gly SP substitution exon 1 VAR_045599 Q8NG04:p.Met130Thr SP substitution exon 1 VAR_045600 Q8NG04:p.Ala193Thr SP substitution exon 1 VAR_045601 Q8NG04:p.Leu546Val SP substitution exon 1 VAR_045606 Q6IC83:p.Leu73Pro SP substitution exon 1 VAR_045607 Q6IC83:p.Glu217Lys SP substitution exon 1 VAR_045608 Q95460:p.His39Arg SP substitution exon 1 VAR_045609 Q95460:p.Arg63Gln SP substitution exon 1 VAR_045610 Q95460:p.Ala77Val SP substitution exon 1 VAR_045612 Q9P278:p.Thr298Ser SP substitution exon 1 VAR_045620 P0C7V8:p.Thr316Ala SP substitution exon 1 VAR_045624 O94875:p.Ala1048Val SP substitution exon 1 VAR_045625 Q96Q35:p.Val43Leu SP substitution exon 1 VAR_045626 Q8NEA4:p.Leu86Phe SP substitution exon 1 VAR_045627 Q14008:p.Tyr785Cys SP substitution exon 1 VAR_045628 O75167:p.Pro165Ser SP substitution exon 1 VAR_045632 Q9ULC4:p.Leu106His SP substitution exon 1 VAR_045648 Q9NRM0:p.Ser22Asn SP substitution exon 1 VAR_045649 Q9NRM0:p.Glu191Asp SP substitution exon 1 VAR_045650 Q9NRM0:p.Gly216Arg SP substitution exon 1 VAR_045651 Q9NRM0:p.Thr275Met SP substitution exon 1 VAR_045652 Q9NRM0:p.Asp281His SP substitution exon 1 VAR_045653 Q9NRM0:p.Arg300His SP substitution exon 1 VAR_045654 Q9NW13:p.Glu253Gln SP substitution exon 1 VAR_045655 Q9NW13:p.Leu351Pro SP substitution exon 1 VAR_045656 Q13148:p.Ala90Val SP substitution exon 1 VAR_045657 Q13148:p.Asp169Gly SP substitution exon 1 VAR_045658 Q13148:p.Gly287Ser SP substitution exon 1 VAR_045659 Q13148:p.Gly290Ala SP substitution exon 1 VAR_045660 Q13148:p.Gly294Ala SP substitution exon 1 VAR_045661 Q13148:p.Gly298Ser SP substitution exon 1 VAR_045662 Q13148:p.Ala315Thr SP substitution exon 1 VAR_045663 Q13148:p.Gln331Lys SP substitution exon 1 VAR_045664 Q13148:p.Met337Val SP substitution exon 1 VAR_045665 Q13148:p.Gly348Cys SP substitution exon 1 VAR_045666 Q13148:p.Arg361Ser SP substitution exon 1 VAR_045667 Q13148:p.Ala382Thr SP substitution exon 1 VAR_045668 Q13148:p.Asn390Asp SP substitution exon 1 VAR_045669 Q13148:p.Asn390Ser SP substitution exon 1 VAR_045670 Q7Z6Z7:p.Arg2981His SP substitution exon 1 VAR_045671 Q7Z6Z7:p.Arg4013Trp SP substitution exon 1 VAR_045672 Q7Z6Z7:p.Arg4187Cys SP substitution exon 1 VAR_045678 Q8NG04:p.Leu270Ser SP substitution exon 1 VAR_045682 Q15319:p.Leu223Pro SP substitution exon 1 VAR_045683 Q15319:p.Leu289Phe SP substitution exon 1 VAR_045684 O15439:p.Tyr556Cys SP substitution exon 1 VAR_045685 O15439:p.Val776Ile SP substitution exon 1 VAR_045686 O15439:p.Arg820Ile SP substitution exon 1 VAR_045687 O15439:p.Val854Phe SP substitution exon 1 VAR_045688 O15439:p.Ile866Val SP substitution exon 1 VAR_045690 P52735:p.Met594Val SP substitution exon 1 VAR_045691 P35658:p.Pro574Ser SP substitution exon 1 VAR_045692 Q8N0Z9:p.Val333Met SP substitution exon 1 VAR_045693 Q8N0Z9:p.His435Tyr SP substitution exon 1 VAR_045694 P21817:p.Leu13Val SP substitution exon 1 VAR_045695 P21817:p.Arg44Cys SP substitution exon 1 VAR_045696 P21817:p.Glu160Gly SP substitution exon 1 VAR_045697 P21817:p.Arg163Leu SP substitution exon 1 VAR_045698 P21817:p.Gly165Arg SP substitution exon 1 VAR_045699 P21817:p.Asp166Asn SP substitution exon 1 VAR_045700 P21817:p.Arg177Cys SP substitution exon 1 VAR_045701 P21817:p.Tyr178Cys SP substitution exon 1 VAR_045702 P21817:p.Gly215Glu SP substitution exon 1 VAR_045703 P21817:p.Asp227Val SP substitution exon 1 VAR_045704 P21817:p.Arg328Trp SP substitution exon 1 VAR_045705 P21817:p.Arg401Cys SP substitution exon 1 VAR_045706 P21817:p.Arg401His SP substitution exon 1 VAR_045707 P21817:p.Arg401Ser SP substitution exon 1 VAR_045708 P21817:p.Arg533Cys SP substitution exon 1 VAR_045709 P21817:p.Gly1704Ser SP substitution exon 1 VAR_045710 P21817:p.Gly1832Ala SP substitution exon 1 VAR_045711 P21817:p.Met2101Lys SP substitution exon 1 VAR_045712 P21817:p.Val2117Leu SP substitution exon 1 VAR_045713 P21817:p.Asp2129Glu SP substitution exon 1 VAR_045714 P21817:p.Val2214Ile SP substitution exon 1 VAR_045715 P21817:p.Val2280Ile SP substitution exon 1 VAR_045716 P21817:p.Asn2342Ser SP substitution exon 1 VAR_045717 P21817:p.Glu2344Asp SP substitution exon 1 VAR_045718 P21817:p.Val2346Met SP substitution exon 1 VAR_045720 P21817:p.Glu2348Gly SP substitution exon 1 VAR_045721 P21817:p.Ala2350Thr SP substitution exon 1 VAR_045722 P21817:p.Arg2355Cys SP substitution exon 1 VAR_045723 P21817:p.Ala2367Thr SP substitution exon 1 VAR_045724 P21817:p.Ala2421Pro SP substitution exon 1 VAR_045725 P21817:p.Ala2428Thr SP substitution exon 1 VAR_045726 P21817:p.Asp2431Asn SP substitution exon 1 VAR_045727 P21817:p.Ala2437Val SP substitution exon 1 VAR_045728 P21817:p.Arg2452Trp SP substitution exon 1 VAR_045729 P21817:p.Arg2676Trp SP substitution exon 1 VAR_045730 P21817:p.Thr2787Ser SP substitution exon 1 VAR_045731 P21817:p.Ala3118Val SP substitution exon 1 VAR_045732 P21817:p.Pro3527Ser SP substitution exon 1 VAR_045733 P21817:p.Arg3539His SP substitution exon 1 VAR_045734 P21817:p.Arg3772Gln SP substitution exon 1 VAR_045735 P21817:p.Ile3916Met SP substitution exon 1 VAR_045736 P21817:p.Arg4136Ser SP substitution exon 1 VAR_045738 P21817:p.Val4234Leu SP substitution exon 1 VAR_045739 P21817:p.Arg4558Gln SP substitution exon 1 VAR_045740 P21817:p.Thr4637Ala SP substitution exon 1 VAR_045741 P21817:p.Thr4637Ile SP substitution exon 1 VAR_045742 P21817:p.Gly4638Asp SP substitution exon 1 VAR_045744 P21817:p.Leu4650Pro SP substitution exon 1 VAR_045745 P21817:p.His4651Pro SP substitution exon 1 VAR_045746 P21817:p.Pro4668Ser SP substitution exon 1 VAR_045747 P21817:p.Phe4684Ser SP substitution exon 1 VAR_045748 P21817:p.Lys4724Gln SP substitution exon 1 VAR_045749 P21817:p.Arg4737Gln SP substitution exon 1 VAR_045750 P21817:p.Arg4737Trp SP substitution exon 1 VAR_045751 P21817:p.Leu4793Pro SP substitution exon 1 VAR_045752 P21817:p.Tyr4796Cys SP substitution exon 1 VAR_045753 P21817:p.Leu4814Phe SP substitution exon 1 VAR_045754 P21817:p.Leu4824Pro SP substitution exon 1 VAR_045755 P21817:p.Arg4825Cys SP substitution exon 1 VAR_045756 P21817:p.Thr4826Ile SP substitution exon 1 VAR_045757 P21817:p.Leu4838Val SP substitution exon 1 VAR_045758 P21817:p.Val4842Met SP substitution exon 1 VAR_045759 P21817:p.Ala4846Val SP substitution exon 1 VAR_045760 P21817:p.Val4849Ile SP substitution exon 1 VAR_045762 P21817:p.Arg4861Cys SP substitution exon 1 VAR_045763 P21817:p.Arg4861His SP substitution exon 1 VAR_045765 P21817:p.Tyr4864Cys SP substitution exon 1 VAR_045766 P21817:p.Lys4876Arg SP substitution exon 1 VAR_045767 P21817:p.Gly4891Arg SP substitution exon 1 VAR_045768 P21817:p.Arg4893Gln SP substitution exon 1 VAR_045769 P21817:p.Arg4893Trp SP substitution exon 1 VAR_045770 P21817:p.Gly4897Val SP substitution exon 1 VAR_045771 P21817:p.Ile4898Thr SP substitution exon 1 VAR_045772 P21817:p.Gly4899Glu SP substitution exon 1 VAR_045773 P21817:p.Gly4899Arg SP substitution exon 1 VAR_045774 P21817:p.Ala4906Val SP substitution exon 1 VAR_045775 P21817:p.Arg4914Gly SP substitution exon 1 VAR_045776 P21817:p.Arg4914Thr SP substitution exon 1 VAR_045778 P21817:p.Ile4938Met SP substitution exon 1 VAR_045779 P21817:p.Asp4939Glu SP substitution exon 1 VAR_045780 P21817:p.Ala4940Thr SP substitution exon 1 VAR_045781 P21817:p.Gly4942Val SP substitution exon 1 VAR_045782 P21817:p.Pro4973Leu SP substitution exon 1 VAR_045783 P04637:p.Gly59Asn SP substitution exon 1 VAR_045784 P04637:p.Pro72Cys SP substitution exon 1 VAR_045785 P04637:p.Pro72Gly SP substitution exon 1 VAR_045786 P04637:p.Pro72His SP substitution exon 1 VAR_045787 P04637:p.Pro72Leu SP substitution exon 1 VAR_045788 P04637:p.Phe113Gly SP substitution exon 1 VAR_045789 P04637:p.Tyr126Gly SP substitution exon 1 VAR_045790 P04637:p.Lys132Leu SP substitution exon 1 VAR_045791 P04637:p.Lys132Trp SP substitution exon 1 VAR_045792 P04637:p.Cys135Thr SP substitution exon 1 VAR_045793 P04637:p.Cys141Ala SP substitution exon 1 VAR_045794 P04637:p.Pro142Phe SP substitution exon 1 VAR_045795 P04637:p.Pro153Phe SP substitution exon 1 VAR_045796 P04637:p.Gly154Ile SP substitution exon 1 VAR_045797 P04637:p.Arg158Phe SP substitution exon 1 VAR_045798 P04637:p.Arg158Tyr SP substitution exon 1 VAR_045799 P04637:p.Ala159Phe SP substitution exon 1 VAR_045800 P04637:p.Ala161Phe SP substitution exon 1 VAR_045801 P04637:p.His168Val SP substitution exon 1 VAR_045802 P04637:p.Val173Trp SP substitution exon 1 VAR_045803 P04637:p.Pro177Phe SP substitution exon 1 VAR_045804 P04637:p.Pro177Ile SP substitution exon 1 VAR_045805 P04637:p.Gly187Asn SP substitution exon 1 VAR_045806 P04637:p.Ile195Tyr SP substitution exon 1 VAR_045807 P04637:p.Asn200Pro SP substitution exon 1 VAR_045808 P04637:p.Val203Trp SP substitution exon 1 VAR_045809 P04637:p.Asp208Ile SP substitution exon 1 VAR_045810 P04637:p.Ser215Lys SP substitution exon 1 VAR_045811 P04637:p.Val216Trp SP substitution exon 1 VAR_045812 P04637:p.Pro219Cys SP substitution exon 1 VAR_045815 Q9P243:p.Pro102Ser SP substitution exon 1 VAR_045816 Q14CN2:p.Pro43Ser SP substitution exon 1 VAR_045817 Q14CN2:p.Asp443Val SP substitution exon 1 VAR_045818 Q14CN2:p.Met449Leu SP substitution exon 1 VAR_045821 Q6UXT9:p.Thr334Ala SP substitution exon 1 VAR_045823 Q8N4W9:p.Lys134Asn SP substitution exon 1 VAR_045824 Q8N4W9:p.Asp262Asn SP substitution exon 1 VAR_045825 B2RU33:p.Thr3Ala SP substitution exon 1 VAR_045826 B2RU33:p.Ala10Thr SP substitution exon 1 VAR_045827 B2RU33:p.Ala13Thr SP substitution exon 1 VAR_045828 B2RU33:p.Phe28Cys SP substitution exon 1 VAR_045829 B2RU33:p.His30Pro SP substitution exon 1 VAR_045830 B2RU33:p.Lys36Arg SP substitution exon 1 VAR_045831 B2RU33:p.His66Arg SP substitution exon 1 VAR_045832 B2RU33:p.Cys72Tyr SP substitution exon 1 VAR_045833 B2RU33:p.His86Asp SP substitution exon 1 VAR_045834 B2RU33:p.Met166Ile SP substitution exon 1 VAR_045835 B2RU33:p.Cys221Arg SP substitution exon 1 VAR_045836 Q13454:p.Ile65Val SP substitution exon 1 VAR_045838 P05549:p.Leu249Pro SP substitution exon 1 VAR_045839 P05549:p.Arg254Gly SP substitution exon 1 VAR_045840 P05549:p.Arg255Gly SP substitution exon 1 VAR_045841 P05549:p.Gly262Glu SP substitution exon 1 VAR_045842 P35442:p.Thr133Ser SP substitution exon 1 VAR_045843 P35442:p.Leu375Phe SP substitution exon 1 VAR_045844 P04637:p.Gly226Asn SP substitution exon 1 VAR_045845 P04637:p.Asp228Pro SP substitution exon 1 VAR_045846 P04637:p.Cys229Asn SP substitution exon 1 VAR_045847 P04637:p.Tyr234Lys SP substitution exon 1 VAR_045848 P04637:p.Tyr234Gln SP substitution exon 1 VAR_045849 P04637:p.Asn235Met SP substitution exon 1 VAR_045850 P04637:p.Cys238His SP substitution exon 1 VAR_045851 P04637:p.Gly245Phe SP substitution exon 1 VAR_045852 P04637:p.Gly245His SP substitution exon 1 VAR_045853 P04637:p.Gly245Leu SP substitution exon 1 VAR_045854 P04637:p.Gly245Asn SP substitution exon 1 VAR_045855 P04637:p.Asn247Phe SP substitution exon 1 VAR_045856 P04637:p.Arg249Asn SP substitution exon 1 VAR_045857 P04637:p.Pro250Phe SP substitution exon 1 VAR_045858 P04637:p.Pro250Asn SP substitution exon 1 VAR_045859 P04637:p.Ile254Asp SP substitution exon 1 VAR_045860 P04637:p.Glu258Leu SP substitution exon 1 VAR_045861 P04637:p.Asp259Pro SP substitution exon 1 VAR_045862 P04637:p.Asp259Ser SP substitution exon 1 VAR_045863 P04637:p.Gly262His SP substitution exon 1 VAR_045864 P04637:p.Asn268Phe SP substitution exon 1 VAR_045865 P04637:p.Glu271Pro SP substitution exon 1 VAR_045866 P04637:p.Glu271Arg SP substitution exon 1 VAR_045867 P04637:p.Arg273Asn SP substitution exon 1 VAR_045868 P04637:p.Arg273Tyr SP substitution exon 1 VAR_045869 P04637:p.Pro278Phe SP substitution exon 1 VAR_045870 P04637:p.Asp281Arg SP substitution exon 1 VAR_045871 P04637:p.Glu286Leu SP substitution exon 1 VAR_045872 P04637:p.Lys292Gly SP substitution exon 1 VAR_045873 P04637:p.His296Cys SP substitution exon 1 VAR_045874 P04637:p.Leu323Gly SP substitution exon 1 VAR_045875 P04637:p.Asp324Ser SP substitution exon 1 VAR_045876 P00441:p.Phe21Cys SP substitution exon 1 VAR_045877 P00441:p.Gln23Leu SP substitution exon 1 VAR_045878 P00441:p.His49Arg SP substitution exon 1 VAR_045879 P00441:p.Thr55Arg SP substitution exon 1 VAR_045880 P00441:p.Val88Ala SP substitution exon 1 VAR_045881 P00441:p.Ala90Thr SP substitution exon 1 VAR_045882 P00441:p.Val98Met SP substitution exon 1 VAR_045883 P00441:p.Val119Leu SP substitution exon 1 VAR_045884 P00441:p.Asp125Gly SP substitution exon 1 VAR_045885 P00441:p.Gly148Arg SP substitution exon 1 VAR_045886 Q06418:p.Pro21Leu SP substitution exon 1 VAR_045887 Q06418:p.Ile346Asn SP substitution exon 1 VAR_045888 Q06418:p.Gly542Ser SP substitution exon 1 VAR_045889 Q06418:p.Ala815Val SP substitution exon 1 VAR_045890 Q06418:p.Leu819Met SP substitution exon 1 VAR_045891 Q06418:p.Arg824Gly SP substitution exon 1 VAR_045892 Q6NUI1:p.Gly82Asp SP substitution exon 1 VAR_045897 Q6Q8B3:p.Arg113Leu SP substitution exon 1 VAR_045898 Q9UQ90:p.Ser692Thr SP substitution exon 1 VAR_045899 Q96EN8:p.Arg776Cys SP substitution exon 1 VAR_045900 P47989:p.Arg149Cys SP substitution exon 1 VAR_045901 P47989:p.Pro1150Arg SP substitution exon 1 VAR_045902 Q9GZT9:p.Arg371His SP substitution exon 1 VAR_045903 Q6MZM0:p.Asn251Asp SP substitution exon 1 VAR_045904 Q6MZM0:p.Arg381Cys SP substitution exon 1 VAR_045906 A8CG34:p.Thr379Ala SP substitution exon 1 VAR_045908 Q6PEW1:p.Arg7Cys SP substitution exon 1 VAR_045909 Q6PEW1:p.Leu179Ile SP substitution exon 1 VAR_045910 Q6PEW1:p.Arg214Gly SP substitution exon 1 VAR_045911 O14949:p.Ser45Phe SP substitution exon 1 VAR_045912 P54756:p.Tyr506Cys SP substitution exon 1 VAR_045915 P62736:p.Asn117Thr SP substitution exon 1 VAR_045916 P62736:p.Arg118Gln SP substitution exon 1 VAR_045917 P62736:p.Tyr135His SP substitution exon 1 VAR_045918 P62736:p.Arg149Cys SP substitution exon 1 VAR_045919 P62736:p.Val154Ala SP substitution exon 1 VAR_045920 P62736:p.Arg258Cys SP substitution exon 1 VAR_045921 P62736:p.Arg258His SP substitution exon 1 VAR_045922 P62736:p.Arg292Gly SP substitution exon 1 VAR_045924 P68032:p.His90Tyr SP substitution exon 1 VAR_045925 P68032:p.Arg97Cys SP substitution exon 1 VAR_045926 P12883:p.Val763Met SP substitution exon 1 VAR_045927 P12883:p.Arg787Cys SP substitution exon 1 VAR_045928 P12883:p.Leu1414Met SP substitution exon 1 VAR_045932 P50461:p.Leu44Pro SP substitution exon 1 VAR_045934 P50461:p.Cys58Gly SP substitution exon 1 VAR_045935 O95180:p.Phe161Leu SP substitution exon 1 VAR_045936 O95180:p.Glu282Lys SP substitution exon 1 VAR_045937 O95180:p.Met313Val SP substitution exon 1 VAR_045938 O95180:p.Cys456Ser SP substitution exon 1 VAR_045939 O95180:p.Gly499Ser SP substitution exon 1 VAR_045940 O95180:p.Pro640Leu SP substitution exon 1 VAR_045941 O95180:p.Pro648Leu SP substitution exon 1 VAR_045942 O95180:p.Val664Ala SP substitution exon 1 VAR_045943 O95180:p.Pro684Ser SP substitution exon 1 VAR_045944 O95180:p.Arg744Gln SP substitution exon 1 VAR_045945 O95180:p.Ala748Val SP substitution exon 1 VAR_045946 O95180:p.Gly773Asp SP substitution exon 1 VAR_045947 O95180:p.Gly784Ser SP substitution exon 1 VAR_045948 O95180:p.Arg788Cys SP substitution exon 1 VAR_045949 O95180:p.Val812Met SP substitution exon 1 VAR_045950 O95180:p.Val831Met SP substitution exon 1 VAR_045951 O95180:p.Gly848Ser SP substitution exon 1 VAR_045952 O95180:p.Asp1463Asn SP substitution exon 1 VAR_045953 O95180:p.Arg2060His SP substitution exon 1 VAR_045954 O95180:p.Arg2077His SP substitution exon 1 VAR_045955 O95180:p.Pro2173Ser SP substitution exon 1 VAR_045956 Q96BY7:p.Asn1124Asp SP substitution exon 1 VAR_045957 P15918:p.Arg314Trp SP substitution exon 1 VAR_045958 P15918:p.Arg778Gln SP substitution exon 1 VAR_045959 P15918:p.Arg975Trp SP substitution exon 1 VAR_045960 P55895:p.Thr77Asn SP substitution exon 1 VAR_045961 P55895:p.Glu293Gly SP substitution exon 1 VAR_045962 P55895:p.Gly451Ala SP substitution exon 1 VAR_045963 Q6PHW0:p.Arg101Trp SP substitution exon 1 VAR_045965 Q6PHW0:p.Ile116Thr SP substitution exon 1 VAR_045967 Q9NQC7:p.Glu747Gly SP substitution exon 1 VAR_045968 P20930:p.Ser1184Leu SP substitution exon 1 VAR_045969 P20930:p.Arg1376Gly SP substitution exon 1 VAR_045970 P20930:p.Arg1437Cys SP substitution exon 1 VAR_045971 P20930:p.Ala1805Val SP substitution exon 1 VAR_045972 P20930:p.His1961Gln SP substitution exon 1 VAR_045973 P20930:p.Ile2022Thr SP substitution exon 1 VAR_045974 P20930:p.His2507Gln SP substitution exon 1 VAR_045975 P01112:p.Gly12Cys SP substitution exon 1 VAR_045976 P01112:p.Gly12Glu SP substitution exon 1 VAR_045977 P01112:p.Gln22Lys SP substitution exon 1 VAR_045978 P01112:p.Thr58Ile SP substitution exon 1 VAR_045979 P01112:p.Gln61Lys SP substitution exon 1 VAR_045980 P01112:p.Glu63Lys SP substitution exon 1 VAR_045981 P01112:p.Lys117Arg SP substitution exon 1 VAR_045982 P01112:p.Ala146Thr SP substitution exon 1 VAR_045983 P01112:p.Ala146Val SP substitution exon 1 VAR_045984 Q9P0J0:p.Lys5Asn SP substitution exon 1 VAR_045985 Q9P0J0:p.Arg115Pro SP substitution exon 1 VAR_045987 Q13936:p.Gln84Arg SP substitution exon 1 VAR_045988 Q13936:p.Ile391Leu SP substitution exon 1 VAR_045989 Q99676:p.Ala27Ser SP substitution exon 1 VAR_045990 Q9BWW7:p.Ser133Ala SP substitution exon 1 VAR_045999 Q13642:p.His123Tyr SP substitution exon 1 VAR_046000 Q13642:p.Cys132Phe SP substitution exon 1 VAR_046001 Q13642:p.Cys153Arg SP substitution exon 1 VAR_046002 Q13642:p.Cys153Tyr SP substitution exon 1 VAR_046003 Q9HC10:p.Gln255His SP substitution exon 1 VAR_046004 Q9HC10:p.Ala964Glu SP substitution exon 1 VAR_046005 Q9HC10:p.Leu1138Pro SP substitution exon 1 VAR_046006 Q9HC10:p.Arg1236Gln SP substitution exon 1 VAR_046007 Q9HC10:p.Thr1688Lys SP substitution exon 1 VAR_046008 Q9HC10:p.Phe1795Cys SP substitution exon 1 VAR_046009 Q05655:p.Arg483Trp SP substitution exon 1 VAR_046011 Q86TH1:p.Val364Ile SP substitution exon 1 VAR_046012 P35680:p.Ser36Phe SP substitution exon 1 VAR_046013 P35680:p.Val61Gly SP substitution exon 1 VAR_046014 P35680:p.Gly76Cys SP substitution exon 1 VAR_046015 P35680:p.Val110Gly SP substitution exon 1 VAR_046016 P35680:p.Arg112Pro SP substitution exon 1 VAR_046017 P35680:p.Gln136Glu SP substitution exon 1 VAR_046018 P35680:p.Ser148Leu SP substitution exon 1 VAR_046019 P35680:p.Ser148Trp SP substitution exon 1 VAR_046020 P35680:p.Ser151Pro SP substitution exon 1 VAR_046021 P35680:p.His153Asn SP substitution exon 1 VAR_046022 P35680:p.Lys156Glu SP substitution exon 1 VAR_046023 P35680:p.Lys164Gln SP substitution exon 1 VAR_046024 P35680:p.Arg165His SP substitution exon 1 VAR_046025 P35680:p.Arg235Gln SP substitution exon 1 VAR_046026 P35680:p.Ala241Thr SP substitution exon 1 VAR_046027 P35680:p.Glu260Asp SP substitution exon 1 VAR_046028 P35680:p.Arg276Gly SP substitution exon 1 VAR_046029 P35680:p.Arg276Gln SP substitution exon 1 VAR_046030 P35680:p.Gly285Asp SP substitution exon 1 VAR_046031 P35680:p.Arg295Cys SP substitution exon 1 VAR_046032 P35680:p.Arg295His SP substitution exon 1 VAR_046033 P35680:p.Arg295Pro SP substitution exon 1 VAR_046034 P35680:p.Gly370Ser SP substitution exon 1 VAR_046042 Q96SF2:p.Trp320Arg SP substitution exon 1 VAR_046043 P32298:p.Ala116Thr SP substitution exon 1 VAR_046044 P32298:p.His383Gln SP substitution exon 1 VAR_046045 P32298:p.Val473Ile SP substitution exon 1 VAR_046046 P32298:p.Ala495Thr SP substitution exon 1 VAR_046047 Q86Z02:p.Leu1165Val SP substitution exon 1 VAR_046050 O95382:p.Arg499Cys SP substitution exon 1 VAR_046051 O95382:p.Arg544Trp SP substitution exon 1 VAR_046052 O95382:p.Arg668Gly SP substitution exon 1 VAR_046053 O95382:p.Arg673Leu SP substitution exon 1 VAR_046054 O95382:p.Ser925Leu SP substitution exon 1 VAR_046055 O95382:p.Thr968Ile SP substitution exon 1 VAR_046056 O95382:p.Ala1061Thr SP substitution exon 1 VAR_046057 O95382:p.Gly1233Ala SP substitution exon 1 VAR_046058 Q8N4C8:p.Val771Ala SP substitution exon 1 VAR_046059 Q8N4C8:p.Pro775Leu SP substitution exon 1 VAR_046060 Q8N4C8:p.Val863Ile SP substitution exon 1 VAR_046061 Q8N4C8:p.Glu1010Val SP substitution exon 1 VAR_046062 P46734:p.Pro40Thr SP substitution exon 1 VAR_046063 P46734:p.Ser68Pro SP substitution exon 1 VAR_046064 P46734:p.Ala84Thr SP substitution exon 1 VAR_046065 P46734:p.Met90Ile SP substitution exon 1 VAR_046066 P46734:p.Arg94Leu SP substitution exon 1 VAR_046067 P46734:p.Arg96Trp SP substitution exon 1 VAR_046068 P46734:p.Arg293His SP substitution exon 1 VAR_046070 Q13163:p.Ala428Thr SP substitution exon 1 VAR_046071 P21802:p.Arg612Thr SP substitution exon 1 VAR_046095 Q9Y6C2:p.Gln149Arg SP substitution exon 1 VAR_046096 Q9Y6C2:p.Gln536Arg SP substitution exon 1 VAR_046097 Q9Y6C2:p.Glu903Lys SP substitution exon 1 VAR_046099 Q9Y5Q6:p.Gln50Leu SP substitution exon 1 VAR_046100 Q9Y5P3:p.Met252Val SP substitution exon 1 VAR_046101 Q9Y5P3:p.Ala342Pro SP substitution exon 1 VAR_046102 P22455:p.Gly426Ser SP substitution exon 1 VAR_046103 P22455:p.Val550Met SP substitution exon 1 VAR_046104 P22455:p.Pro712Thr SP substitution exon 1 VAR_046105 P22455:p.Ser772Asn SP substitution exon 1 VAR_046106 P29376:p.Cys384Arg SP substitution exon 1 VAR_046107 P29376:p.Asp535Asn SP substitution exon 1 VAR_046108 P29376:p.Arg569Ser SP substitution exon 1 VAR_046109 P29376:p.Arg673Gln SP substitution exon 1 VAR_046110 P29376:p.Pro745Ser SP substitution exon 1 VAR_046111 P29376:p.Pro838Ser SP substitution exon 1 VAR_046112 Q9UKP4:p.Ser214Pro SP substitution exon 1 VAR_046113 Q9UKP4:p.Thr307Met SP substitution exon 1 VAR_046114 Q9UKP4:p.Thr1319Ala SP substitution exon 1 VAR_046115 Q9UKP4:p.Gly1414Ser SP substitution exon 1 VAR_046116 Q9UKP4:p.Gly1583Ala SP substitution exon 1 VAR_046117 O15050:p.Pro703Leu SP substitution exon 1 VAR_046118 O15050:p.Glu1090Gly SP substitution exon 1 VAR_046119 P0C860:p.Asn47Asp SP substitution exon 1 VAR_046120 P0C860:p.Leu99Ile SP substitution exon 1 VAR_046121 P0C860:p.Ser145Asn SP substitution exon 1 VAR_046122 P0C860:p.Ala147Asp SP substitution exon 1 VAR_046123 P0C860:p.Pro257Ser SP substitution exon 1 VAR_046124 P0C860:p.Lys316Glu SP substitution exon 1 VAR_046126 Q8N960:p.Leu602Val SP substitution exon 1 VAR_046130 Q9Y2I1:p.Val299Ile SP substitution exon 1 VAR_046134 O43464:p.Leu72Pro SP substitution exon 1 VAR_046135 O43464:p.Arg404Trp SP substitution exon 1 VAR_046136 Q8IWU9:p.Pro206Ser SP substitution exon 1 VAR_046145 P39019:p.Ala17Pro SP substitution exon 1 VAR_046146 P39019:p.Leu18Arg SP substitution exon 1 VAR_046148 P39019:p.Ser59Phe SP substitution exon 1 VAR_046149 P39019:p.Leu131Arg SP substitution exon 1 VAR_046150 Q56P42:p.Gln81Arg SP substitution exon 1 VAR_046151 Q9BSF0:p.Thr56Ile SP substitution exon 1 VAR_046157 Q5JRM2:p.Pro233Leu SP substitution exon 1 VAR_046158 P21453:p.Ser15Leu SP substitution exon 1 VAR_046159 P21453:p.Ala115Thr SP substitution exon 1 VAR_046160 P21453:p.Pro332Arg SP substitution exon 1 VAR_046161 Q6UXP3:p.Leu82Pro SP substitution exon 1 VAR_046164 Q9NVV2:p.Ser106Gly SP substitution exon 1 VAR_046165 B2RTY4:p.Arg37Lys SP substitution exon 1 VAR_046166 B2RTY4:p.Arg85Gln SP substitution exon 1 VAR_046167 B2RTY4:p.Thr161Ile SP substitution exon 1 VAR_046168 B2RTY4:p.Asn168Asp SP substitution exon 1 VAR_046169 B2RTY4:p.Leu211Pro SP substitution exon 1 VAR_046170 B2RTY4:p.Arg946Gln SP substitution exon 1 VAR_046171 B2RTY4:p.Gly1193Glu SP substitution exon 1 VAR_046178 Q86W67:p.Tyr140Cys SP substitution exon 1 VAR_046179 Q8IZ13:p.Ala523Ser SP substitution exon 1 VAR_046180 Q8N7R1:p.Pro21Thr SP substitution exon 1 VAR_046181 Q8N7R1:p.Gln64Glu SP substitution exon 1 VAR_046182 Q8N7R1:p.Gly188Glu SP substitution exon 1 VAR_046183 Q6ZUF6:p.Ser13Arg SP substitution exon 1 VAR_046184 Q6ZUF6:p.Leu73Pro SP substitution exon 1 VAR_046185 Q6ZUF6:p.Pro84Ser SP substitution exon 1 VAR_046186 Q6ZUL3:p.Arg81His SP substitution exon 1 VAR_046187 A2RUQ5:p.Gly98Arg SP substitution exon 1 VAR_046188 A2RUQ5:p.Arg155Lys SP substitution exon 1 VAR_046189 Q6ZST4:p.Ala68Thr SP substitution exon 1 VAR_046192 Q96JH8:p.Asp239Asn SP substitution exon 1 VAR_046193 Q96JH8:p.His412Asp SP substitution exon 1 VAR_046194 Q8WXC7:p.Gly58Ser SP substitution exon 1 VAR_046195 Q8WXC7:p.Lys342Met SP substitution exon 1 VAR_046196 Q8WXC7:p.Ser380Ala SP substitution exon 1 VAR_046197 Q8N2X6:p.Pro50Ser SP substitution exon 1 VAR_046198 Q8N2X6:p.Arg118Gly SP substitution exon 1 VAR_046199 A2A288:p.Pro53Leu SP substitution exon 1 VAR_046200 A2A288:p.Lys106Arg SP substitution exon 1 VAR_046205 P61764:p.Val84Asp SP substitution exon 1 VAR_046206 P61764:p.Cys180Tyr SP substitution exon 1 VAR_046207 P61764:p.Met443Arg SP substitution exon 1 VAR_046208 P61764:p.Gly544Asp SP substitution exon 1 VAR_046209 P15428:p.Ala140Pro SP substitution exon 1 VAR_046210 Q9UQQ2:p.Phe182Leu SP substitution exon 1 VAR_046211 P30532:p.Val134Ile SP substitution exon 1 VAR_046212 P30532:p.Asp398Asn SP substitution exon 1 VAR_046214 Q9P2R7:p.Val13Met SP substitution exon 1 VAR_046215 Q9P2R7:p.Gly118Arg SP substitution exon 1 VAR_046216 Q9P2R7:p.Arg284Cys SP substitution exon 1 VAR_046217 Q7LG56:p.Trp64Arg SP substitution exon 1 VAR_046219 Q7LG56:p.Glu194Gly SP substitution exon 1 VAR_046220 Q7LG56:p.Glu194Lys SP substitution exon 1 VAR_046221 Q7LG56:p.Ile224Ser SP substitution exon 1 VAR_046222 Q7LG56:p.Cys236Phe SP substitution exon 1 VAR_046223 Q7LG56:p.Met282Ile SP substitution exon 1 VAR_046224 Q7LG56:p.Leu317Val SP substitution exon 1 VAR_046225 Q13164:p.Arg535His SP substitution exon 1 VAR_046226 A1X283:p.Tyr101Phe SP substitution exon 1 VAR_046227 Q9UHC6:p.Arg114Gln SP substitution exon 1 VAR_046228 Q9UHC6:p.Thr218Met SP substitution exon 1 VAR_046229 Q9UHC6:p.Leu226Met SP substitution exon 1 VAR_046230 Q9UHC6:p.Arg283Cys SP substitution exon 1 VAR_046231 Q9UHC6:p.Ser382Asn SP substitution exon 1 VAR_046232 Q9UHC6:p.Asn407Ser SP substitution exon 1 VAR_046233 Q9UHC6:p.Asn418Asp SP substitution exon 1 VAR_046234 Q9UHC6:p.Glu680Lys SP substitution exon 1 VAR_046235 Q9UHC6:p.Pro699Gln SP substitution exon 1 VAR_046236 Q9UHC6:p.Tyr716Cys SP substitution exon 1 VAR_046237 Q9UHC6:p.Gly731Ser SP substitution exon 1 VAR_046238 Q9UHC6:p.Gly779Asp SP substitution exon 1 VAR_046239 Q9UHC6:p.Ile869Thr SP substitution exon 1 VAR_046240 Q9UHC6:p.Arg906His SP substitution exon 1 VAR_046241 Q9UHC6:p.Asp1038Asn SP substitution exon 1 VAR_046242 Q9UHC6:p.Val1102Ala SP substitution exon 1 VAR_046243 Q9UHC6:p.Ser1114Gly SP substitution exon 1 VAR_046244 Q9UHC6:p.Arg1119His SP substitution exon 1 VAR_046245 Q9UHC6:p.Asp1129His SP substitution exon 1 VAR_046246 Q9UHC6:p.Ala1227Thr SP substitution exon 1 VAR_046247 Q9UHC6:p.Ile1253Thr SP substitution exon 1 VAR_046248 Q9UHC6:p.Thr1278Ile SP substitution exon 1 VAR_046249 P35575:p.Met5Arg SP substitution exon 1 VAR_046250 P35575:p.Thr16Ala SP substitution exon 1 VAR_046251 P35575:p.Thr16Arg SP substitution exon 1 VAR_046252 P35575:p.Trp63Arg SP substitution exon 1 VAR_046253 P35575:p.Ala65Pro SP substitution exon 1 VAR_046254 P35575:p.Gly68Arg SP substitution exon 1 VAR_046255 P35575:p.Lys76Asn SP substitution exon 1 VAR_046256 P35575:p.Thr111Ile SP substitution exon 1 VAR_046257 P35575:p.Pro113Leu SP substitution exon 1 VAR_046258 P35575:p.His119Leu SP substitution exon 1 VAR_046259 P35575:p.Gly122Asp SP substitution exon 1 VAR_046260 P35575:p.Val166Ala SP substitution exon 1 VAR_046261 P35575:p.Arg170Gln SP substitution exon 1 VAR_046262 P35575:p.Phe177Cys SP substitution exon 1 VAR_046263 P35575:p.Pro178Ser SP substitution exon 1 VAR_046264 P35575:p.His179Pro SP substitution exon 1 VAR_046265 P35575:p.Gly184Val SP substitution exon 1 VAR_046266 P35575:p.Gly188Ser SP substitution exon 1 VAR_046268 P35575:p.Tyr209Cys SP substitution exon 1 VAR_046269 P35575:p.Trp236Arg SP substitution exon 1 VAR_046270 P35575:p.Ala241Thr SP substitution exon 1 VAR_046271 P35575:p.Pro257Leu SP substitution exon 1 VAR_046272 P35575:p.Asn264Lys SP substitution exon 1 VAR_046273 P35575:p.Leu265Pro SP substitution exon 1 VAR_046274 P35575:p.Gly270Arg SP substitution exon 1 VAR_046275 P35575:p.Gly270Trp SP substitution exon 1 VAR_046276 P35575:p.Ser298Pro SP substitution exon 1 VAR_046277 P35575:p.Phe322Leu SP substitution exon 1 VAR_046278 P35575:p.Leu345Arg SP substitution exon 1 VAR_046279 Q5EG05:p.Arg33Ser SP substitution exon 1 VAR_046280 Q5EG05:p.Gln37Lys SP substitution exon 1 VAR_046281 Q5EG05:p.Ala56Asp SP substitution exon 1 VAR_046282 Q5EG05:p.Asn167Ile SP substitution exon 1 VAR_046283 A8MUP2:p.Gly125Ser SP substitution exon 1 VAR_046284 Q5VX52:p.Val153Leu SP substitution exon 1 VAR_046285 Q8N8Q3:p.Val29Ile SP substitution exon 1 VAR_046286 Q8N8Q3:p.Arg112Gln SP substitution exon 1 VAR_046287 Q8N8Q3:p.Lys114Arg SP substitution exon 1 VAR_046288 Q8N8Q3:p.His141Tyr SP substitution exon 1 VAR_046289 Q8N8Q3:p.Asp201Asn SP substitution exon 1 VAR_046300 Q9UBN7:p.Thr994Ile SP substitution exon 1 VAR_046301 Q92932:p.Ser208Pro SP substitution exon 1 VAR_046302 Q92932:p.Leu388His SP substitution exon 1 VAR_046303 Q9HBM0:p.Thr162Ala SP substitution exon 1 VAR_046304 Q9HBM0:p.Val496Ile SP substitution exon 1 VAR_046305 Q9HBM0:p.Val612Met SP substitution exon 1 VAR_046306 Q9HBM0:p.Ser668Ala SP substitution exon 1 VAR_046307 Q7L0X0:p.Asn240Ser SP substitution exon 1 VAR_046308 Q7L0X0:p.Ala347Thr SP substitution exon 1 VAR_046309 Q7L0X0:p.Gly369Asp SP substitution exon 1 VAR_046310 Q6AHZ1:p.Asn946His SP substitution exon 1 VAR_046311 Q6AHZ1:p.Arg1328Gln SP substitution exon 1 VAR_046312 Q9NYC9:p.Arg151His SP substitution exon 1 VAR_046313 Q9NYC9:p.Gln445Arg SP substitution exon 1 VAR_046314 Q9NYC9:p.Arg842Trp SP substitution exon 1 VAR_046315 Q9NYC9:p.Arg1158Trp SP substitution exon 1 VAR_046316 Q9NYC9:p.Thr1221Ala SP substitution exon 1 VAR_046317 Q9NYC9:p.Met2087Val SP substitution exon 1 VAR_046318 Q9NYC9:p.Asn2195Ser SP substitution exon 1 VAR_046319 Q9NYC9:p.Gln2438His SP substitution exon 1 VAR_046320 Q9NYC9:p.Lys2961Arg SP substitution exon 1 VAR_046321 Q9NYC9:p.Lys2968Asn SP substitution exon 1 VAR_046322 Q9NYC9:p.Arg3726Gln SP substitution exon 1 VAR_046323 Q9NYC9:p.Arg3726Trp SP substitution exon 1 VAR_046324 Q9NYC9:p.Asp4036Asn SP substitution exon 1 VAR_046325 Q9NYC9:p.Met4374Ile SP substitution exon 1 VAR_046326 Q9NYC9:p.Arg4443Cys SP substitution exon 1 VAR_046327 Q9NYC9:p.Trp4462Arg SP substitution exon 1 VAR_046328 Q9HD67:p.Val32Ile SP substitution exon 1 VAR_046329 Q9HD67:p.Glu273Asp SP substitution exon 1 VAR_046330 Q9HD67:p.Arg324Trp SP substitution exon 1 VAR_046331 Q9HD67:p.Arg700Gln SP substitution exon 1 VAR_046334 Q9BQ67:p.Arg319Gln SP substitution exon 1 VAR_046335 Q8TC57:p.Arg5Gln SP substitution exon 1 VAR_046336 Q8TC57:p.Thr195Pro SP substitution exon 1 VAR_046337 Q8IY92:p.Ala1367Thr SP substitution exon 1 VAR_046338 Q8IY92:p.Pro1677Ser SP substitution exon 1 VAR_046339 Q6ZMT9:p.Gly26Arg SP substitution exon 1 VAR_046340 Q6ZMT9:p.Val179Asp SP substitution exon 1 VAR_046341 Q6ZMT9:p.Arg552Cys SP substitution exon 1 VAR_046342 Q6ZMT9:p.Arg662His SP substitution exon 1 VAR_046343 A6NC51:p.Leu199Phe SP substitution exon 1 VAR_046344 Q9BVR0:p.Leu759Pro SP substitution exon 1 VAR_046346 Q8WXG9:p.Val551Ala SP substitution exon 1 VAR_046347 Q8WXG9:p.Ile1187Val SP substitution exon 1 VAR_046348 Q8WXG9:p.Thr1916Ile SP substitution exon 1 VAR_046349 Q8WXG9:p.Arg2097Cys SP substitution exon 1 VAR_046350 Q8WXG9:p.Val3094Ile SP substitution exon 1 VAR_046351 Q8WXG9:p.Phe3347Leu SP substitution exon 1 VAR_046352 Q8WXG9:p.Glu3867Ala SP substitution exon 1 VAR_046353 P19338:p.Pro68Leu SP substitution exon 1 VAR_046354 P19338:p.Pro122Leu SP substitution exon 1 VAR_046355 P19338:p.Ala174Val SP substitution exon 1 VAR_046356 A5PLK6:p.Glu5Asp SP substitution exon 1 VAR_046357 A5PLK6:p.Trp256Cys SP substitution exon 1 VAR_046358 Q5HY64:p.Asn924Thr SP substitution exon 1 VAR_046359 A7E2Y1:p.Pro28Thr SP substitution exon 1 VAR_046360 A7E2Y1:p.Phe459Tyr SP substitution exon 1 VAR_046361 A7E2Y1:p.Pro738Ser SP substitution exon 1 VAR_046362 A7E2Y1:p.Lys1510Asn SP substitution exon 1 VAR_046363 A7E2Y1:p.Ala1539Val SP substitution exon 1 VAR_046364 A7E2Y1:p.Gln1656Arg SP substitution exon 1 VAR_046365 A7E2Y1:p.Val1875Glu SP substitution exon 1 VAR_046366 B0YJ81:p.Glu64Lys SP substitution exon 1 VAR_046367 B0YJ81:p.Glu64Gln SP substitution exon 1 VAR_046368 B0YJ81:p.Val70Phe SP substitution exon 1 VAR_046369 B0YJ81:p.His227Tyr SP substitution exon 1 VAR_046370 Q9NTU4:p.Pro68Leu SP substitution exon 1 VAR_046371 O14950:p.Glu141Gly SP substitution exon 1 VAR_046372 B1AJZ9:p.Glu763Lys SP substitution exon 1 VAR_046373 P28715:p.Phe670Leu SP substitution exon 1 VAR_046376 Q9Y2K3:p.Asp1467Asn SP substitution exon 1 VAR_046377 Q96KG7:p.Pro897Leu SP substitution exon 1 VAR_046378 Q8N628:p.Arg129Ser SP substitution exon 1 VAR_046380 O75648:p.Arg25Ser SP substitution exon 1 VAR_046381 O75648:p.Glu148Lys SP substitution exon 1 VAR_046383 O95278:p.Lys140Asn SP substitution exon 1 VAR_046384 O95278:p.Asn148Tyr SP substitution exon 1 VAR_046387 Q6VVB1:p.Ser22Arg SP substitution exon 1 VAR_046388 Q6VVB1:p.Glu67Gln SP substitution exon 1 VAR_046389 Q6VVB1:p.Cys68Tyr SP substitution exon 1 VAR_046390 Q6VVB1:p.Leu126Pro SP substitution exon 1 VAR_046391 Q6VVB1:p.Ile153Met SP substitution exon 1 VAR_046392 Q6VVB1:p.Cys160Arg SP substitution exon 1 VAR_046393 Q6VVB1:p.Ile198Asn SP substitution exon 1 VAR_046394 Q6VVB1:p.Trp219Arg SP substitution exon 1 VAR_046395 Q6VVB1:p.Asp233Ala SP substitution exon 1 VAR_046396 Q6VVB1:p.Asp245Asn SP substitution exon 1 VAR_046397 Q6VVB1:p.Arg253Lys SP substitution exon 1 VAR_046398 Q6VVB1:p.Pro264His SP substitution exon 1 VAR_046399 Q6VVB1:p.Leu279Pro SP substitution exon 1 VAR_046401 Q6VVB1:p.Asp308Ala SP substitution exon 1 VAR_046402 O94941:p.Thr96Met SP substitution exon 1 VAR_046403 O94941:p.Leu479Pro SP substitution exon 1 VAR_046404 Q9H251:p.Pro240Leu SP substitution exon 1 VAR_046405 Q9H251:p.Arg301Gln SP substitution exon 1 VAR_046406 Q9H251:p.Val746Ile SP substitution exon 1 VAR_046407 Q9H251:p.His755Tyr SP substitution exon 1 VAR_046408 Q9H251:p.Ser944Gly SP substitution exon 1 VAR_046409 Q9H251:p.Glu960Lys SP substitution exon 1 VAR_046410 Q9H251:p.Val1090Ile SP substitution exon 1 VAR_046411 Q9H251:p.Asn1098Ser SP substitution exon 1 VAR_046412 Q9H251:p.Arg1236Gln SP substitution exon 1 VAR_046413 Q9H251:p.Asn1282Ser SP substitution exon 1 VAR_046414 Q9H251:p.Arg1417Trp SP substitution exon 1 VAR_046415 Q9H251:p.Ile1520Met SP substitution exon 1 VAR_046416 Q9H251:p.Met1574Thr SP substitution exon 1 VAR_046417 Q9H251:p.Val1711Ile SP substitution exon 1 VAR_046418 Q9H251:p.Gln1716Pro SP substitution exon 1 VAR_046419 Q9H251:p.Pro1788Leu SP substitution exon 1 VAR_046420 Q9H251:p.Val1807Met SP substitution exon 1 VAR_046421 Q9H251:p.Ser1876Asn SP substitution exon 1 VAR_046422 Q9H251:p.Val1908Ile SP substitution exon 1 VAR_046423 Q9H251:p.Arg1912Trp SP substitution exon 1 VAR_046424 Q9H251:p.Asp1930Asn SP substitution exon 1 VAR_046425 Q9H251:p.Arg2029Trp SP substitution exon 1 VAR_046426 Q9H251:p.Ile2125Met SP substitution exon 1 VAR_046427 Q9H251:p.Arg2171Cys SP substitution exon 1 VAR_046428 Q9H251:p.Gln2227Pro SP substitution exon 1 VAR_046429 Q9H251:p.Asp2376Val SP substitution exon 1 VAR_046430 Q9H251:p.Leu2473Pro SP substitution exon 1 VAR_046431 Q9H251:p.Arg2489His SP substitution exon 1 VAR_046432 Q9H251:p.Thr2530Ile SP substitution exon 1 VAR_046433 Q9H251:p.Ile2669Val SP substitution exon 1 VAR_046434 Q9H251:p.Gly2771Ser SP substitution exon 1 VAR_046435 Q9H251:p.Phe2801Val SP substitution exon 1 VAR_046436 Q9H251:p.Ala2853Gln SP substitution exon 1 VAR_046437 Q9H251:p.Val2968Ala SP substitution exon 1 VAR_046438 Q9H251:p.Arg3175Cys SP substitution exon 1 VAR_046442 Q12872:p.Leu52Gln SP substitution exon 1 VAR_046443 Q12872:p.Leu122Phe SP substitution exon 1 VAR_046444 Q12872:p.Leu136Phe SP substitution exon 1 VAR_046445 O15439:p.Leu18Ile SP substitution exon 1 VAR_046446 O15439:p.Cys171Gly SP substitution exon 1 VAR_046447 O15439:p.Lys293Glu SP substitution exon 1 VAR_046448 O15439:p.Thr356Met SP substitution exon 1 VAR_046450 P11279:p.Ile309Thr SP substitution exon 1 VAR_046451 P09429:p.Gly11Arg SP substitution exon 1 VAR_046452 P09429:p.Ala149Glu SP substitution exon 1 VAR_046453 P09429:p.Glu156Gln SP substitution exon 1 VAR_046454 P09429:p.Asp190Gly SP substitution exon 1 VAR_046464 Q13099:p.Met383Ile SP substitution exon 1 VAR_046465 Q13099:p.Ser455Asn SP substitution exon 1 VAR_046466 Q13099:p.Ser671Gly SP substitution exon 1 VAR_046467 P10253:p.Tyr191Cys SP substitution exon 1 VAR_046468 P10253:p.His308Leu SP substitution exon 1 VAR_046469 P10253:p.Arg375Leu SP substitution exon 1 VAR_046470 P10253:p.Gln401Arg SP substitution exon 1 VAR_046471 P10253:p.Pro522Ala SP substitution exon 1 VAR_046472 P10253:p.Arg585Met SP substitution exon 1 VAR_046473 P10253:p.Ser599Tyr SP substitution exon 1 VAR_046475 P10253:p.Ser619Arg SP substitution exon 1 VAR_046476 P10253:p.Gly638Trp SP substitution exon 1 VAR_046477 P10253:p.Arg660His SP substitution exon 1 VAR_046478 P10253:p.Arg672Thr SP substitution exon 1 VAR_046479 P10253:p.Arg702Cys SP substitution exon 1 VAR_046480 P60228:p.Ala185Val SP substitution exon 1 VAR_046481 O60942:p.Arg594His SP substitution exon 1 VAR_046482 P38646:p.Gln74Arg SP substitution exon 1 VAR_046483 P38646:p.His184Tyr SP substitution exon 1 VAR_046484 Q8TAB3:p.Val441Glu SP substitution exon 1 VAR_046485 Q8TAB3:p.Asn557Lys SP substitution exon 1 VAR_046486 Q96PY6:p.Ala598Thr SP substitution exon 1 VAR_046488 Q96PY6:p.Gln883Glu SP substitution exon 1 VAR_046489 Q96PY6:p.Asp1180Asn SP substitution exon 1 VAR_046490 P58012:p.Met65Val SP substitution exon 1 VAR_046491 P58012:p.Ile80Thr SP substitution exon 1 VAR_046492 P58012:p.Ile84Asn SP substitution exon 1 VAR_046493 P58012:p.Phe90Ser SP substitution exon 1 VAR_046494 P58012:p.Trp98Gly SP substitution exon 1 VAR_046495 P58012:p.Ser101Arg SP substitution exon 1 VAR_046496 P58012:p.Ile102Thr SP substitution exon 1 VAR_046497 P58012:p.Arg103Cys SP substitution exon 1 VAR_046498 P58012:p.Leu106Pro SP substitution exon 1 VAR_046502 P68032:p.Met125Val SP substitution exon 1 VAR_046503 P68032:p.Tyr168Cys SP substitution exon 1 VAR_046504 P68032:p.Met307Leu SP substitution exon 1 VAR_046505 Q9NRS4:p.Lys198Glu SP substitution exon 1 VAR_046506 Q9NRS4:p.Val208Gly SP substitution exon 1 VAR_046507 P50747:p.Arg183Pro SP substitution exon 1 VAR_046508 P50747:p.Arg360Ser SP substitution exon 1 VAR_046509 P50747:p.Val363Asp SP substitution exon 1 VAR_046510 P50747:p.Tyr456Cys SP substitution exon 1 VAR_046511 P50747:p.Leu470Ser SP substitution exon 1 VAR_046512 P50747:p.Gly518Glu SP substitution exon 1 VAR_046518 Q16620:p.Met697Ile SP substitution exon 1 VAR_046519 Q16620:p.Arg699Gly SP substitution exon 1 VAR_046520 Q16620:p.Arg718Cys SP substitution exon 1 VAR_046521 Q16288:p.Ala664Ser SP substitution exon 1 VAR_046522 Q16288:p.Trp736Cys SP substitution exon 1 VAR_046523 Q16288:p.Arg745Pro SP substitution exon 1 VAR_046524 Q16288:p.Tyr766Phe SP substitution exon 1 VAR_046525 O60242:p.Asn503Ser SP substitution exon 1 VAR_046526 O43516:p.Pro198Leu SP substitution exon 1 VAR_046527 O15550:p.Thr581Ala SP substitution exon 1 VAR_046528 O15492:p.His137Arg SP substitution exon 1 VAR_046529 O15040:p.Val320Ile SP substitution exon 1 VAR_046530 O15040:p.Ala386Thr SP substitution exon 1 VAR_046531 O15040:p.Pro439Ser SP substitution exon 1 VAR_046532 O15040:p.Ile683Val SP substitution exon 1 VAR_046533 O14975:p.Lys48Gln SP substitution exon 1 VAR_046536 O14786:p.Val179Ala SP substitution exon 1 VAR_046537 O14786:p.Phe561Leu SP substitution exon 1 VAR_046538 O14638:p.Asn744His SP substitution exon 1 VAR_046539 O00515:p.Ala56Ser SP substitution exon 1 VAR_046540 O00515:p.Ala155Pro SP substitution exon 1 VAR_046541 O00515:p.Leu243Pro SP substitution exon 1 VAR_046542 O00515:p.Pro279Gln SP substitution exon 1 VAR_046543 O00515:p.Lys323Glu SP substitution exon 1 VAR_046544 O00515:p.Thr503Ser SP substitution exon 1 VAR_046545 O00512:p.Pro671Ser SP substitution exon 1 VAR_046546 O00512:p.Arg782Lys SP substitution exon 1 VAR_046547 P32942:p.Ile63Val SP substitution exon 1 VAR_046548 P32942:p.Asp143Gly SP substitution exon 1 VAR_046549 P31323:p.Glu335Asp SP substitution exon 1 VAR_046550 P32455:p.Ala409Gly SP substitution exon 1 VAR_046551 P49759:p.Asn99Asp SP substitution exon 1 VAR_046552 P48169:p.Ala19Thr SP substitution exon 1 VAR_046553 P48169:p.Leu26Met SP substitution exon 1 VAR_046554 P49790:p.Asp90Asn SP substitution exon 1 VAR_046555 P49790:p.Ile248Val SP substitution exon 1 VAR_046556 P49790:p.Asn402Lys SP substitution exon 1 VAR_046557 P49790:p.Pro821Leu SP substitution exon 1 VAR_046558 P49790:p.Ala827Thr SP substitution exon 1 VAR_046559 P49790:p.Thr1388Ala SP substitution exon 1 VAR_046560 P51178:p.Arg257His SP substitution exon 1 VAR_046561 P51504:p.Arg201His SP substitution exon 1 VAR_046563 Q9UMN6:p.Pro587Arg SP substitution exon 1 VAR_046564 Q9UMN6:p.Pro754Leu SP substitution exon 1 VAR_046565 Q9UMN6:p.Pro1097Leu SP substitution exon 1 VAR_046566 Q9BXM7:p.Leu67Phe SP substitution exon 1 VAR_046567 Q9BXM7:p.Arg68Pro SP substitution exon 1 VAR_046568 Q9BXM7:p.Cys92Phe SP substitution exon 1 VAR_046569 Q9BXM7:p.Arg98Trp SP substitution exon 1 VAR_046570 Q9BXM7:p.Ile111Ser SP substitution exon 1 VAR_046571 Q9BXM7:p.Gln115Leu SP substitution exon 1 VAR_046572 Q9BXM7:p.Ala124Val SP substitution exon 1 VAR_046573 Q9BXM7:p.Thr145Met SP substitution exon 1 VAR_046574 Q9BXM7:p.Arg147His SP substitution exon 1 VAR_046575 Q9BXM7:p.Ala168Pro SP substitution exon 1 VAR_046576 Q9BXM7:p.Lys186Asn SP substitution exon 1 VAR_046577 Q9BXM7:p.Pro196Leu SP substitution exon 1 VAR_046578 Q9BXM7:p.Ala217Asp SP substitution exon 1 VAR_046579 Q9BXM7:p.Glu231Gly SP substitution exon 1 VAR_046580 Q9BXM7:p.Asn235Ile SP substitution exon 1 VAR_046581 Q9BXM7:p.Glu240Lys SP substitution exon 1 VAR_046582 Q9BXM7:p.Thr257Ile SP substitution exon 1 VAR_046583 Q9BXM7:p.Arg263Gly SP substitution exon 1 VAR_046584 Q9BXM7:p.Leu268Val SP substitution exon 1 VAR_046585 Q9BXM7:p.His271Gln SP substitution exon 1 VAR_046586 Q9BXM7:p.Arg276Gln SP substitution exon 1 VAR_046587 Q9BXM7:p.Arg279His SP substitution exon 1 VAR_046588 Q9BXM7:p.Pro296Leu SP substitution exon 1 VAR_046589 Q9BXM7:p.Thr313Met SP substitution exon 1 VAR_046590 Q9BXM7:p.Val317Ile SP substitution exon 1 VAR_046591 Q9BXM7:p.Met318Leu SP substitution exon 1 VAR_046592 Q9BXM7:p.Pro322Leu SP substitution exon 1 VAR_046593 Q9BXM7:p.Leu347Pro SP substitution exon 1 VAR_046594 Q9BXM7:p.Asp362His SP substitution exon 1 VAR_046595 Q9BXM7:p.Ala383Thr SP substitution exon 1 VAR_046596 Q9BXM7:p.Cys388Arg SP substitution exon 1 VAR_046597 Q9BXM7:p.Gly395Val SP substitution exon 1 VAR_046598 Q9BXM7:p.Gly411Ser SP substitution exon 1 VAR_046599 Q9BXM7:p.Glu417Gly SP substitution exon 1 VAR_046600 Q9BXM7:p.Pro425Ser SP substitution exon 1 VAR_046601 Q9BXM7:p.Tyr431His SP substitution exon 1 VAR_046602 Q9BXM7:p.Ile442Thr SP substitution exon 1 VAR_046603 Q9BXM7:p.Asn451Ser SP substitution exon 1 VAR_046604 Q9BXM7:p.Leu461Ser SP substitution exon 1 VAR_046605 Q9BXM7:p.Arg464His SP substitution exon 1 VAR_046606 Q9BXM7:p.Glu476Lys SP substitution exon 1 VAR_046607 Q9BXM7:p.Leu489Pro SP substitution exon 1 VAR_046608 Q9BXM7:p.Arg501Pro SP substitution exon 1 VAR_046609 Q9BXM7:p.Asp525Asn SP substitution exon 1 VAR_046611 Q9BXM7:p.Ala537Thr SP substitution exon 1 VAR_046612 Q9BXM7:p.Cys575Arg SP substitution exon 1 VAR_046613 Q9P219:p.Ala811Glu SP substitution exon 1 VAR_046614 Q9P219:p.Ala1028Val SP substitution exon 1 VAR_046615 Q9P219:p.Leu1992Pro SP substitution exon 1 VAR_046616 P54253:p.His209Gln SP substitution exon 1 VAR_046617 P54253:p.Pro753Ser SP substitution exon 1 VAR_046618 P46531:p.Val1671Ile SP substitution exon 1 VAR_046619 O00330:p.Arg23Cys SP substitution exon 1 VAR_046620 O00330:p.Thr101Ala SP substitution exon 1 VAR_046621 O00330:p.Asp370Val SP substitution exon 1 VAR_046624 Q9BXI9:p.Gly2Val SP substitution exon 1 VAR_046625 Q9BXI9:p.Pro23Arg SP substitution exon 1 VAR_046626 Q9BXI9:p.Gly36Asp SP substitution exon 1 VAR_046627 Q9BXI9:p.Pro119Leu SP substitution exon 1 VAR_046628 Q9BXI9:p.Arg207His SP substitution exon 1 VAR_046631 O00221:p.His95Gln SP substitution exon 1 VAR_046632 O00221:p.Val194Ala SP substitution exon 1 VAR_046633 O00476:p.Pro300Leu SP substitution exon 1 VAR_046634 P28827:p.Ser39Arg SP substitution exon 1 VAR_046635 Q8IWJ2:p.Gln1134Glu SP substitution exon 1 VAR_046636 Q6ZWK6:p.Asp124Asn SP substitution exon 1 VAR_046637 Q5U5Z8:p.Ile90Arg SP substitution exon 1 VAR_046638 Q5U5Z8:p.Thr333Pro SP substitution exon 1 VAR_046639 Q5U5Z8:p.Asp368Gly SP substitution exon 1 VAR_046642 Q9P287:p.Glu254Gln SP substitution exon 1 VAR_046643 Q8WXE9:p.Arg646His SP substitution exon 1 VAR_046644 Q8WXE9:p.Thr694Ala SP substitution exon 1 VAR_046645 Q8TB24:p.Glu111Lys SP substitution exon 1 VAR_046646 Q8TB24:p.His215Pro SP substitution exon 1 VAR_046647 Q8TB24:p.Thr425Met SP substitution exon 1 VAR_046648 Q8TB24:p.Gly613Ala SP substitution exon 1 VAR_046651 Q96HQ0:p.Glu141Gln SP substitution exon 1 VAR_046652 Q96HQ0:p.Ile336Val SP substitution exon 1 VAR_046653 Q96HD1:p.Met13Val SP substitution exon 1 VAR_046654 Q96HD1:p.Pro128Arg SP substitution exon 1 VAR_046661 Q969G2:p.Asn328Ser SP substitution exon 1 VAR_046662 Q96HC4:p.Ser319Leu SP substitution exon 1 VAR_046663 Q96HC4:p.Ala345Thr SP substitution exon 1 VAR_046664 Q96HC4:p.Thr381Ala SP substitution exon 1 VAR_046665 Q96HC4:p.Pro388Ser SP substitution exon 1 VAR_046667 Q96GZ6:p.Val71Met SP substitution exon 1 VAR_046668 Q96AX9:p.Phe15Leu SP substitution exon 1 VAR_046669 Q96AX9:p.Met45Thr SP substitution exon 1 VAR_046672 Q93074:p.Gln1392Arg SP substitution exon 1 VAR_046673 Q96RT1:p.Lys914Arg SP substitution exon 1 VAR_046674 Q96RT1:p.Gly1089Val SP substitution exon 1 VAR_046675 Q9UDY2:p.Met668Ile SP substitution exon 1 VAR_046676 Q9UDY2:p.Ser711Pro SP substitution exon 1 VAR_046677 Q9UDY2:p.Lys822Asn SP substitution exon 1 VAR_046678 Q9UDY2:p.Asn829Asp SP substitution exon 1 VAR_046679 P35968:p.Val848Glu SP substitution exon 1 VAR_046680 P35968:p.Val952Ile SP substitution exon 1 VAR_046681 Q9NZ08:p.Glu56Lys SP substitution exon 1 VAR_046682 Q9NZ08:p.Asp575Gly SP substitution exon 1 VAR_046683 P28329:p.Asp47Glu SP substitution exon 1 VAR_046684 P28329:p.Arg222Pro SP substitution exon 1 VAR_046685 P28329:p.Leu243Phe SP substitution exon 1 VAR_046686 P28329:p.Pro299Leu SP substitution exon 1 VAR_046687 P28329:p.Asp400Asn SP substitution exon 1 VAR_046688 P28329:p.Val461Met SP substitution exon 1 VAR_046689 Q9BX69:p.Ser86Leu SP substitution exon 1 VAR_046690 Q9BX69:p.Arg93Lys SP substitution exon 1 VAR_046691 Q9BX69:p.Met395Lys SP substitution exon 1 VAR_046692 Q9BX69:p.Asp426Val SP substitution exon 1 VAR_046693 Q9BX69:p.Ala575Asp SP substitution exon 1 VAR_046694 Q9BX69:p.Ile576Val SP substitution exon 1 VAR_046695 Q9BYE9:p.Gln107His SP substitution exon 1 VAR_046696 Q9BYE9:p.Ala415Gly SP substitution exon 1 VAR_046697 Q9BYE9:p.Val424Ala SP substitution exon 1 VAR_046698 Q9BYE9:p.Leu766Pro SP substitution exon 1 VAR_046699 Q9BYE9:p.Thr901Met SP substitution exon 1 VAR_046700 Q9BYE9:p.Val948Met SP substitution exon 1 VAR_046701 Q9BYE9:p.Thr1128Met SP substitution exon 1 VAR_046702 Q9BYQ4:p.Pro36Ser SP substitution exon 1 VAR_046703 Q9BYQ4:p.Cys56Ser SP substitution exon 1 VAR_046704 Q9BYW1:p.Asp60Asn SP substitution exon 1 VAR_046705 Q9BYW1:p.Arg232Gln SP substitution exon 1 VAR_046706 Q9BYW1:p.Ile420Phe SP substitution exon 1 VAR_046707 Q9BYX2:p.Pro241Thr SP substitution exon 1 VAR_046708 Q9BYX2:p.Leu253Ser SP substitution exon 1 VAR_046709 Q9BYX2:p.Gly261Val SP substitution exon 1 VAR_046710 Q9BZ76:p.Ala628Ser SP substitution exon 1 VAR_046711 Q9BZ76:p.Arg845His SP substitution exon 1 VAR_046712 Q9BZD7:p.Asn153Ser SP substitution exon 1 VAR_046717 Q9C0J8:p.Ala33Ser SP substitution exon 1 VAR_046718 Q9GZX5:p.Met37Ile SP substitution exon 1 VAR_046719 Q9GZX5:p.Ile69Thr SP substitution exon 1 VAR_046720 Q9GZX5:p.Arg132Cys SP substitution exon 1 VAR_046721 Q9GZX5:p.Glu406Lys SP substitution exon 1 VAR_046722 Q9H0U9:p.Ala181Thr SP substitution exon 1 VAR_046723 Q9H210:p.Ser148Pro SP substitution exon 1 VAR_046724 Q9H210:p.Ile163Met SP substitution exon 1 VAR_046725 Q9H210:p.Ile163Thr SP substitution exon 1 VAR_046726 Q9H210:p.Met202Thr SP substitution exon 1 VAR_046727 Q9H2B4:p.Gln556Arg SP substitution exon 1 VAR_046728 Q9H2U9:p.Glu25Gln SP substitution exon 1 VAR_046729 Q9H2U9:p.Ile205Val SP substitution exon 1 VAR_046730 Q9H2U9:p.Val244Met SP substitution exon 1 VAR_046731 Q9H2U9:p.Ile453Thr SP substitution exon 1 VAR_046732 Q9H2U9:p.Leu570Val SP substitution exon 1 VAR_046733 Q9H2U9:p.Asn638His SP substitution exon 1 VAR_046734 Q9H2U9:p.Leu735Pro SP substitution exon 1 VAR_046735 O43395:p.Pro493Ser SP substitution exon 1 VAR_046736 P54257:p.Lys4Arg SP substitution exon 1 VAR_046737 P54257:p.Ser58Thr SP substitution exon 1 VAR_046738 P54257:p.Ser357Leu SP substitution exon 1 VAR_046739 P54257:p.Arg437Trp SP substitution exon 1 VAR_046740 P54257:p.Met441Thr SP substitution exon 1 VAR_046741 P54257:p.Phe483Leu SP substitution exon 1 VAR_046742 P54257:p.Ala488Val SP substitution exon 1 VAR_046743 P43026:p.Arg380Gln SP substitution exon 1 VAR_046744 Q12840:p.Lys253Asn SP substitution exon 1 VAR_046745 Q8NEM0:p.Thr27Arg SP substitution exon 1 VAR_046746 Q8NEM0:p.Arg171Ser SP substitution exon 1 VAR_046747 Q8NEM0:p.Ala212Thr SP substitution exon 1 VAR_046748 Q8NEM0:p.Ile264Val SP substitution exon 1 VAR_046749 Q8NEM0:p.Pro288His SP substitution exon 1 VAR_046750 Q8NEM0:p.Arg304Ile SP substitution exon 1 VAR_046751 Q8NEM0:p.Asp314His SP substitution exon 1 VAR_046752 Q8NEM0:p.Asp392Gly SP substitution exon 1 VAR_046753 Q8NEM0:p.Ser580Gly SP substitution exon 1 VAR_046754 Q8NEM0:p.Leu602Phe SP substitution exon 1 VAR_046755 Q8NEM0:p.Thr682Asn SP substitution exon 1 VAR_046756 Q8NEM0:p.Val761Ala SP substitution exon 1 VAR_046757 Q8NEM0:p.Pro828Ser SP substitution exon 1 VAR_046758 Q8IZT6:p.Thr869Ser SP substitution exon 1 VAR_046759 Q8IZT6:p.Ser1090Phe SP substitution exon 1 VAR_046760 Q8IZT6:p.Tyr2494His SP substitution exon 1 VAR_046761 Q8IZT6:p.Gln2620His SP substitution exon 1 VAR_046762 Q8IZT6:p.His3258Arg SP substitution exon 1 VAR_046763 P27448:p.Ser443Gly SP substitution exon 1 VAR_046764 O75914:p.Thr440Ser SP substitution exon 1 VAR_046767 P50416:p.Arg316Gly SP substitution exon 1 VAR_046768 P50416:p.Phe343Val SP substitution exon 1 VAR_046769 P50416:p.Gly465Trp SP substitution exon 1 VAR_046770 Q16288:p.Arg735Phe SP substitution exon 1 VAR_046771 Q16288:p.Lys768Arg SP substitution exon 1 VAR_046772 Q16288:p.Glu781Lys SP substitution exon 1 VAR_046773 Q13976:p.Ile249Val SP substitution exon 1 VAR_046775 P14854:p.Arg20His SP substitution exon 1 VAR_046776 Q6QHK4:p.Ala4Glu SP substitution exon 1 VAR_046778 Q6QHK4:p.Ser141Thr SP substitution exon 1 VAR_046779 Q0VG99:p.Ala66Gly SP substitution exon 1 VAR_046780 Q0VG99:p.Leu125Val SP substitution exon 1 VAR_046781 Q0VG99:p.Ser224Phe SP substitution exon 1 VAR_046782 Q9NYJ7:p.Ala115Thr SP substitution exon 1 VAR_046783 Q9NYJ7:p.Leu142Gln SP substitution exon 1 VAR_046784 Q9NYJ7:p.Phe172Cys SP substitution exon 1 VAR_046785 Q8NES3:p.Gly38Arg SP substitution exon 1 VAR_046786 Q8NES3:p.Val346Met SP substitution exon 1 VAR_046788 Q9Y6Q6:p.Gly53Arg SP substitution exon 1 VAR_046789 Q9Y6Q6:p.Arg129Cys SP substitution exon 1 VAR_046790 Q9Y6Q6:p.His141Tyr SP substitution exon 1 VAR_046791 Q9Y6Q6:p.Arg170Gly SP substitution exon 1 VAR_046792 Q9Y6Q6:p.Cys175Arg SP substitution exon 1 VAR_046793 Q9Y6Q6:p.Ala244Ser SP substitution exon 1 VAR_046796 P49747:p.Arg381Cys SP substitution exon 1 VAR_046797 P51801:p.Arg27Leu SP substitution exon 1 VAR_046798 P51801:p.Val126Leu SP substitution exon 1 VAR_046799 P51801:p.Arg395Trp SP substitution exon 1 VAR_046800 P51801:p.Thr481Ser SP substitution exon 1 VAR_046801 P51801:p.Ser660Leu SP substitution exon 1 VAR_046802 P07225:p.Leu15His SP substitution exon 1 VAR_046803 P07225:p.Val18Glu SP substitution exon 1 VAR_046804 P07225:p.Arg40Leu SP substitution exon 1 VAR_046805 P07225:p.Arg41His SP substitution exon 1 VAR_046806 P07225:p.Lys50Glu SP substitution exon 1 VAR_046807 P07225:p.Gly52Asp SP substitution exon 1 VAR_046808 P07225:p.Glu67Ala SP substitution exon 1 VAR_046809 P07225:p.Ala68Asp SP substitution exon 1 VAR_046810 P07225:p.Phe72Cys SP substitution exon 1 VAR_046811 P07225:p.Pro76Leu SP substitution exon 1 VAR_046812 P07225:p.Val87Leu SP substitution exon 1 VAR_046813 P07225:p.Cys88Tyr SP substitution exon 1 VAR_046814 P07225:p.Arg90Cys SP substitution exon 1 VAR_046815 P07225:p.Arg90His SP substitution exon 1 VAR_046816 P07225:p.Gly95Glu SP substitution exon 1 VAR_046817 P07225:p.Gly95Arg SP substitution exon 1 VAR_046818 P07225:p.Thr98Ser SP substitution exon 1 VAR_046819 P07225:p.Arg101Cys SP substitution exon 1 VAR_046820 P07225:p.Arg111Ser SP substitution exon 1 VAR_046821 P07225:p.Cys121Tyr SP substitution exon 1 VAR_046822 P07225:p.Asp129Gly SP substitution exon 1 VAR_046823 P07225:p.Thr144Asn SP substitution exon 1 VAR_046824 P07225:p.Trp149Cys SP substitution exon 1 VAR_046825 P07225:p.Asp157Gly SP substitution exon 1 VAR_046826 P07225:p.Cys161Gly SP substitution exon 1 VAR_046827 P07225:p.Asn166Tyr SP substitution exon 1 VAR_046828 P07225:p.Asn168Ser SP substitution exon 1 VAR_046829 P07225:p.Cys175Phe SP substitution exon 1 VAR_046830 P07225:p.Cys186Tyr SP substitution exon 1 VAR_046831 P07225:p.Glu204Gly SP substitution exon 1 VAR_046832 P07225:p.Arg233Lys SP substitution exon 1 VAR_046833 P07225:p.Cys241Ser SP substitution exon 1 VAR_046834 P07225:p.Asp243Asn SP substitution exon 1 VAR_046835 P07225:p.Asp245Gly SP substitution exon 1 VAR_046836 P07225:p.Cys247Gly SP substitution exon 1 VAR_046837 P07225:p.Glu249Lys SP substitution exon 1 VAR_046838 P07225:p.Cys265Arg SP substitution exon 1 VAR_046839 P07225:p.Cys265Trp SP substitution exon 1 VAR_046840 P07225:p.Tyr266Cys SP substitution exon 1 VAR_046841 P07225:p.Cys267Ser SP substitution exon 1 VAR_046842 P07225:p.Leu300Pro SP substitution exon 1 VAR_046843 P07225:p.Ser324Pro SP substitution exon 1 VAR_046844 P07225:p.Gly336Asp SP substitution exon 1 VAR_046845 P07225:p.Gly336Ser SP substitution exon 1 VAR_046846 P07225:p.Gly336Val SP substitution exon 1 VAR_046847 P07225:p.Leu339Pro SP substitution exon 1 VAR_046848 P07225:p.Leu351Pro SP substitution exon 1 VAR_046849 P07225:p.Arg355His SP substitution exon 1 VAR_046850 P07225:p.Gly357Arg SP substitution exon 1 VAR_046851 P07225:p.Lys364Glu SP substitution exon 1 VAR_046852 P07225:p.Asp376Asn SP substitution exon 1 VAR_046853 P07225:p.Gly381Asp SP substitution exon 1 VAR_046854 P07225:p.Gly381Val SP substitution exon 1 VAR_046855 P07225:p.Trp383Arg SP substitution exon 1 VAR_046856 P07225:p.Met385Val SP substitution exon 1 VAR_046857 P07225:p.Glu390Lys SP substitution exon 1 VAR_046858 P07225:p.Leu446Pro SP substitution exon 1 VAR_046859 P07225:p.Cys449Ser SP substitution exon 1 VAR_046860 P07225:p.Cys475Arg SP substitution exon 1 VAR_046861 P07225:p.Ile495Val SP substitution exon 1 VAR_046862 P07225:p.Ser501Ala SP substitution exon 1 VAR_046863 P07225:p.Val508Gly SP substitution exon 1 VAR_046864 P07225:p.Val508Met SP substitution exon 1 VAR_046865 P07225:p.Arg515Cys SP substitution exon 1 VAR_046866 P07225:p.Arg515Pro SP substitution exon 1 VAR_046867 P07225:p.Gly521Asp SP substitution exon 1 VAR_046868 P07225:p.Ala525Pro SP substitution exon 1 VAR_046869 P07225:p.Leu526Ser SP substitution exon 1 VAR_046870 P07225:p.Thr532Ala SP substitution exon 1 VAR_046892 P02489:p.Arg21Leu SP substitution exon 1 VAR_046893 P02489:p.Arg116His SP substitution exon 1 VAR_046894 P10644:p.Ser9Asn SP substitution exon 1 VAR_046895 P10644:p.Arg74Cys SP substitution exon 1 VAR_046896 P10644:p.Arg146Ser SP substitution exon 1 VAR_046897 P10644:p.Asp183Tyr SP substitution exon 1 VAR_046898 P10644:p.Ala213Asp SP substitution exon 1 VAR_046899 P10644:p.Gly289Trp SP substitution exon 1 VAR_046900 Q99453:p.Arg141Gln SP substitution exon 1 VAR_046901 Q99453:p.Gln143Arg SP substitution exon 1 VAR_046902 Q99453:p.Gly197Asp SP substitution exon 1 VAR_046903 Q6KF10:p.Ala249Glu SP substitution exon 1 VAR_046904 Q6KF10:p.Leu289Pro SP substitution exon 1 VAR_046906 P60201:p.Cys33Tyr SP substitution exon 1 VAR_046907 P60201:p.Cys35Arg SP substitution exon 1 VAR_046908 P60201:p.Tyr50Cys SP substitution exon 1 VAR_046909 P60201:p.Ala76Pro SP substitution exon 1 VAR_046910 P60201:p.Arg137Trp SP substitution exon 1 VAR_046911 P60201:p.Val162Glu SP substitution exon 1 VAR_046921 P35520:p.Arg18Cys SP substitution exon 1 VAR_046922 P35520:p.Ala69Pro SP substitution exon 1 VAR_046923 P35520:p.Arg125Pro SP substitution exon 1 VAR_046924 P35520:p.Leu154Gln SP substitution exon 1 VAR_046925 P35520:p.Ala155Val SP substitution exon 1 VAR_046926 P35520:p.Val168Ala SP substitution exon 1 VAR_046927 P35520:p.Met173Val SP substitution exon 1 VAR_046928 P35520:p.Asn228Ser SP substitution exon 1 VAR_046929 P35520:p.Ala231Pro SP substitution exon 1 VAR_046932 P35520:p.Ala288Pro SP substitution exon 1 VAR_046933 P35520:p.Ala288Thr SP substitution exon 1 VAR_046934 P35520:p.Ala361Thr SP substitution exon 1 VAR_046935 P35520:p.Asp376Asn SP substitution exon 1 VAR_046936 P35520:p.Arg379Trp SP substitution exon 1 VAR_046939 Q8TCG1:p.Lys126Arg SP substitution exon 1 VAR_046940 Q8TCG1:p.Arg229Gln SP substitution exon 1 VAR_046941 Q8TCG1:p.Thr409Ile SP substitution exon 1 VAR_046942 Q8TCG1:p.Thr447Ala SP substitution exon 1 VAR_046943 Q8TCG1:p.Pro494Leu SP substitution exon 1 VAR_046944 Q8TCG1:p.Ser572Ala SP substitution exon 1 VAR_046945 Q8TCG1:p.Arg680Thr SP substitution exon 1 VAR_046946 Q8TCG1:p.Ile759Val SP substitution exon 1 VAR_046947 Q9P0S9:p.Ser106Arg SP substitution exon 1 VAR_046948 Q9P0S9:p.Phe108Leu SP substitution exon 1 VAR_046949 Q9P0S9:p.Asn109Ile SP substitution exon 1 VAR_046950 Q9P0S9:p.His112Asp SP substitution exon 1 VAR_046951 Q8NBJ7:p.Asp51Glu SP substitution exon 1 VAR_046952 Q8NBV8:p.Cys120Arg SP substitution exon 1 VAR_046953 Q8NBV8:p.Phe129Ile SP substitution exon 1 VAR_046954 P23141:p.Gly143Glu SP substitution exon 1 VAR_046955 A8MT70:p.Ala636Gly SP substitution exon 1 VAR_046956 Q96RT6:p.Ile682Val SP substitution exon 1 VAR_046958 Q96NH3:p.Arg82Gln SP substitution exon 1 VAR_046959 Q96NH3:p.Ile280Val SP substitution exon 1 VAR_046960 Q96NH3:p.Thr375Lys SP substitution exon 1 VAR_046961 Q96NH3:p.Ile599Val SP substitution exon 1 VAR_046962 Q8TF62:p.Asn225Ser SP substitution exon 1 VAR_046963 Q8TF62:p.His452Asn SP substitution exon 1 VAR_046966 Q8WU20:p.Lys303Asn SP substitution exon 1 VAR_046967 Q8WU20:p.Asn449Asp SP substitution exon 1 VAR_046969 Q13523:p.Ile83Val SP substitution exon 1 VAR_046970 Q13698:p.Ala69Gly SP substitution exon 1 VAR_046971 Q13698:p.Arg1658His SP substitution exon 1 VAR_046972 Q13698:p.Leu1800Ser SP substitution exon 1 VAR_046973 Q13698:p.Glu1840Asp SP substitution exon 1 VAR_046974 Q14114:p.Gln25Arg SP substitution exon 1 VAR_046975 Q14146:p.Val1400Met SP substitution exon 1 VAR_046976 Q14246:p.Arg2Leu SP substitution exon 1 VAR_046977 Q14246:p.Met663Thr SP substitution exon 1 VAR_046978 Q14573:p.Arg667Gln SP substitution exon 1 VAR_046979 Q14573:p.Asp742Glu SP substitution exon 1 VAR_046980 Q14573:p.Gly1029Val SP substitution exon 1 VAR_046981 Q14573:p.Leu1552Val SP substitution exon 1 VAR_046982 Q14573:p.Arg1850Gln SP substitution exon 1 VAR_046983 Q14573:p.Glu2398Gln SP substitution exon 1 VAR_046984 Q14573:p.Leu2436Val SP substitution exon 1 VAR_046985 Q14934:p.Gly160Ala SP substitution exon 1 VAR_046986 Q14934:p.Ser246Asn SP substitution exon 1 VAR_046987 Q14934:p.Ser800Pro SP substitution exon 1 VAR_046988 Q15139:p.Arg825Lys SP substitution exon 1 VAR_046989 Q15323:p.Ala39Gly SP substitution exon 1 VAR_046990 Q15323:p.Ala82Val SP substitution exon 1 VAR_046993 Q15431:p.Glu78Asp SP substitution exon 1 VAR_046994 Q15431:p.Glu805Asp SP substitution exon 1 VAR_046995 Q15678:p.Val505Phe SP substitution exon 1 VAR_046996 Q15878:p.Ala1955Thr SP substitution exon 1 VAR_046997 Q2M3X9:p.Leu182Phe SP substitution exon 1 VAR_046998 Q16099:p.Val528Ile SP substitution exon 1 VAR_046999 Q16099:p.Met824Thr SP substitution exon 1 VAR_047000 Q16478:p.Val527Met SP substitution exon 1 VAR_047001 Q16348:p.Arg57His SP substitution exon 1 VAR_047002 Q16348:p.Tyr73Cys SP substitution exon 1 VAR_047003 Q16348:p.Leu350Phe SP substitution exon 1 VAR_047004 Q16348:p.Pro409Ser SP substitution exon 1 VAR_047005 Q16348:p.Arg509Lys SP substitution exon 1 VAR_047006 Q16348:p.Ala609Gly SP substitution exon 1 VAR_047007 Q16348:p.Ala609Pro SP substitution exon 1 VAR_047008 Q16348:p.Met704Leu SP substitution exon 1 VAR_047009 Q16558:p.Val110Leu SP substitution exon 1 VAR_047010 Q5BJE1:p.Ala42Thr SP substitution exon 1 VAR_047011 Q5BJE1:p.Val465Glu SP substitution exon 1 VAR_047012 Q5BJE1:p.Leu600Arg SP substitution exon 1 VAR_047013 Q5BJE1:p.Asp601Asn SP substitution exon 1 VAR_047015 Q1X8D7:p.Arg222Pro SP substitution exon 1 VAR_047016 Q1X8D7:p.Gly509Ser SP substitution exon 1 VAR_047017 Q1X8D7:p.Ser744Gly SP substitution exon 1 VAR_047018 Q3LI67:p.Tyr51Ser SP substitution exon 1 VAR_047019 Q3LI76:p.Leu43Met SP substitution exon 1 VAR_047023 Q92636:p.Tyr626Cys SP substitution exon 1 VAR_047024 Q92636:p.Arg850Thr SP substitution exon 1 VAR_047025 Q92839:p.Cys14Arg SP substitution exon 1 VAR_047026 Q92552:p.Gly284Asp SP substitution exon 1 VAR_047027 Q8WWL7:p.Gly1001Arg SP substitution exon 1 VAR_047028 Q93075:p.His217Arg SP substitution exon 1 VAR_047029 Q93075:p.Val256Ile SP substitution exon 1 VAR_047030 Q93075:p.Pro358Leu SP substitution exon 1 VAR_047031 Q8NBF1:p.Thr110Ala SP substitution exon 1 VAR_047032 Q8NBF1:p.Ala187Gly SP substitution exon 1 VAR_047033 Q92610:p.Ser926Asn SP substitution exon 1 VAR_047034 Q8TAG5:p.Glu84Lys SP substitution exon 1 VAR_047035 Q9H6Y5:p.His112Arg SP substitution exon 1 VAR_047036 Q9H6Y5:p.Val173Leu SP substitution exon 1 VAR_047037 Q9H6Y5:p.Phe323Leu SP substitution exon 1 VAR_047038 Q9BYK8:p.Ser1152Leu SP substitution exon 1 VAR_047039 Q9BYK8:p.Val1308Leu SP substitution exon 1 VAR_047040 Q9BYK8:p.Arg1381Lys SP substitution exon 1 VAR_047041 Q9BYK8:p.Leu1821Arg SP substitution exon 1 VAR_047042 Q9BYK8:p.Thr1889Ala SP substitution exon 1 VAR_047043 Q9BYK8:p.Thr2170Met SP substitution exon 1 VAR_047044 Q9BYQ7:p.His66Arg SP substitution exon 1 VAR_047045 Q9BYQ7:p.Ser115Arg SP substitution exon 1 VAR_047047 Q9BYV7:p.Leu231Pro SP substitution exon 1 VAR_047048 Q9BYV7:p.Gly289Glu SP substitution exon 1 VAR_047050 Q9H0M4:p.Glu365Lys SP substitution exon 1 VAR_047051 Q9HB58:p.Ser173Leu SP substitution exon 1 VAR_047052 Q9HB58:p.Ser210Ala SP substitution exon 1 VAR_047053 Q07812:p.Gly39Arg SP substitution exon 1 VAR_047054 P22003:p.His2Tyr SP substitution exon 1 VAR_047055 P22004:p.Arg257Cys SP substitution exon 1 VAR_047056 Q8N1C3:p.Gly403Glu SP substitution exon 1 VAR_047057 Q9H3E2:p.Glu318Lys SP substitution exon 1 VAR_047058 Q9H3E2:p.Ile586Val SP substitution exon 1 VAR_047059 Q9H3E2:p.Thr725Ile SP substitution exon 1 VAR_047060 Q9H3Q3:p.Met4Leu SP substitution exon 1 VAR_047061 Q9NZL3:p.Met118Val SP substitution exon 1 VAR_047062 Q9NZL3:p.Lys438Asn SP substitution exon 1 VAR_047063 Q9NZL3:p.His506Asp SP substitution exon 1 VAR_047064 Q9H8V3:p.Ser15Thr SP substitution exon 1 VAR_047065 Q9H987:p.Ser833Tyr SP substitution exon 1 VAR_047066 Q9HBL0:p.Ile311Met SP substitution exon 1 VAR_047067 Q9HBL0:p.Arg466Cys SP substitution exon 1 VAR_047068 Q9HBL0:p.Thr528Ile SP substitution exon 1 VAR_047072 Q9HBW9:p.Val300Leu SP substitution exon 1 VAR_047073 Q9HBW9:p.His599Gln SP substitution exon 1 VAR_047074 Q9HBW9:p.Ala620Gly SP substitution exon 1 VAR_047075 Q9NRD8:p.Ser1067Leu SP substitution exon 1 VAR_047076 Q9NRM1:p.Asp767Gly SP substitution exon 1 VAR_047077 Q9NRM7:p.Gly363Ser SP substitution exon 1 VAR_047078 Q9NRR6:p.Ile201Met SP substitution exon 1 VAR_047079 Q9NYM4:p.Pro374Gln SP substitution exon 1 VAR_047080 Q9P1Q5:p.Arg128His SP substitution exon 1 VAR_047081 Q9P2N4:p.Ser96Pro SP substitution exon 1 VAR_047082 Q9P2N4:p.Lys1579Glu SP substitution exon 1 VAR_047083 Q9P2N4:p.Asp1674Glu SP substitution exon 1 VAR_047084 Q9P2N4:p.Lys1740Arg SP substitution exon 1 VAR_047085 Q9P2N4:p.Glu1791Gln SP substitution exon 1 VAR_047086 Q9P2N4:p.Arg1933Gln SP substitution exon 1 VAR_047087 Q9UHL4:p.Ala89Gly SP substitution exon 1 VAR_047091 Q9UJW2:p.Thr3Ala SP substitution exon 1 VAR_047092 Q9UJW2:p.Gln22Arg SP substitution exon 1 VAR_047093 Q9UJW2:p.Ser158Pro SP substitution exon 1 VAR_047094 Q9UJW2:p.Val413Ile SP substitution exon 1 VAR_047095 Q9UJW2:p.Ile433Leu SP substitution exon 1 VAR_047096 Q9UK39:p.His140Tyr SP substitution exon 1 VAR_047097 Q9UK53:p.Leu125Arg SP substitution exon 1 VAR_047098 Q9UKN8:p.His243Arg SP substitution exon 1 VAR_047099 Q6PIU2:p.Val19Phe SP substitution exon 1 VAR_047100 Q6PIU2:p.Lys71Gln SP substitution exon 1 VAR_047102 Q5T742:p.Ile63Asn SP substitution exon 1 VAR_047103 Q9H7Y0:p.Arg128Lys SP substitution exon 1 VAR_047104 Q9H7Y0:p.Arg146Gln SP substitution exon 1 VAR_047105 P04118:p.Arg109Cys SP substitution exon 1 VAR_047106 Q70CQ2:p.Met661Thr SP substitution exon 1 VAR_047107 Q70CQ2:p.Leu1663Arg SP substitution exon 1 VAR_047108 Q70CQ2:p.Asp2348Asn SP substitution exon 1 VAR_047110 P50452:p.Arg68Gln SP substitution exon 1 VAR_047111 P50452:p.Lys158Asn SP substitution exon 1 VAR_047112 Q15327:p.Thr116Met SP substitution exon 1 VAR_047113 Q9HD36:p.Leu11Arg SP substitution exon 1 VAR_047114 Q9NPH5:p.Met315Ile SP substitution exon 1 VAR_047115 Q9NQ38:p.Gln267Arg SP substitution exon 1 VAR_047116 Q9NQ38:p.Ser368Asn SP substitution exon 1 VAR_047117 Q9NQ38:p.Asp386Asn SP substitution exon 1 VAR_047118 Q9NQ38:p.Val395Met SP substitution exon 1 VAR_047119 Q9NQ38:p.Arg441His SP substitution exon 1 VAR_047120 Q9NQ38:p.Ile588Met SP substitution exon 1 VAR_047121 Q9NQ38:p.Arg711Gln SP substitution exon 1 VAR_047126 Q9NQB0:p.Lys346Asn SP substitution exon 1 VAR_047127 Q9NQS7:p.Gly2Val SP substitution exon 1 VAR_047128 Q9NQS7:p.Arg100His SP substitution exon 1 VAR_047129 Q9NQS7:p.Ala137Val SP substitution exon 1 VAR_047130 Q9NQS7:p.Met506Thr SP substitution exon 1 VAR_047131 Q9NQS7:p.Glu644Asp SP substitution exon 1 VAR_047132 Q08426:p.Thr75Ile SP substitution exon 1 VAR_047133 Q08426:p.Ala274Thr SP substitution exon 1 VAR_047134 Q08426:p.Thr606Pro SP substitution exon 1 VAR_047135 Q08426:p.Gln685Lys SP substitution exon 1 VAR_047136 Q08426:p.Leu715Ser SP substitution exon 1 VAR_047137 P02790:p.Asp52Asn SP substitution exon 1 VAR_047138 Q8TBE3:p.His50Asn SP substitution exon 1 VAR_047139 Q8TBE3:p.Val138Ile SP substitution exon 1 VAR_047140 Q8TBE3:p.Pro166Ala SP substitution exon 1 VAR_047141 Q8NH94:p.Ser145Gly SP substitution exon 1 VAR_047142 Q8NH94:p.Thr149Ala SP substitution exon 1 VAR_047143 Q8NH94:p.Leu308Val SP substitution exon 1 VAR_047145 Q8NGG8:p.His20Arg SP substitution exon 1 VAR_047146 Q8NGG8:p.Met114Ile SP substitution exon 1 VAR_047147 Q8NH56:p.Val133Ile SP substitution exon 1 VAR_047148 Q8NEA6:p.Ser269Pro SP substitution exon 1 VAR_047150 Q8TCU5:p.Arg480His SP substitution exon 1 VAR_047151 Q92496:p.Gly306Glu SP substitution exon 1 VAR_047152 Q92887:p.Tyr39Phe SP substitution exon 1 VAR_047154 Q9UPU5:p.Thr226Ile SP substitution exon 1 VAR_047155 Q9UPU5:p.Gly1940Ser SP substitution exon 1 VAR_047156 Q9UPU5:p.Tyr2134Ser SP substitution exon 1 VAR_047157 Q9UPU5:p.Val2468Ala SP substitution exon 1 VAR_047169 P04637:p.Asp184Asn SP substitution exon 1 VAR_047172 P04637:p.Ile195Leu SP substitution exon 1 VAR_047175 P04637:p.Tyr205Phe SP substitution exon 1 VAR_047177 P04637:p.His214Gln SP substitution exon 1 VAR_047178 P04637:p.Val217Met SP substitution exon 1 VAR_047179 P04637:p.Pro223Ala SP substitution exon 1 VAR_047180 P04637:p.Gly226Asp SP substitution exon 1 VAR_047181 P04637:p.His233Arg SP substitution exon 1 VAR_047182 P04637:p.Asn235Asp SP substitution exon 1 VAR_047183 P04637:p.Ser241Thr SP substitution exon 1 VAR_047186 P04637:p.Gly244Ala SP substitution exon 1 VAR_047189 P04637:p.Asn247Thr SP substitution exon 1 VAR_047192 P04637:p.Pro250Leu SP substitution exon 1 VAR_047193 P04637:p.Thr253Pro SP substitution exon 1 VAR_047194 P04637:p.Asp259Ala SP substitution exon 1 VAR_047196 P04637:p.Gly262Asp SP substitution exon 1 VAR_047197 P04637:p.Leu265Arg SP substitution exon 1 VAR_047198 P04637:p.Ser269Ile SP substitution exon 1 VAR_047199 P04637:p.Glu271Val SP substitution exon 1 VAR_047200 P04637:p.Val274Gly SP substitution exon 1 VAR_047201 P04637:p.Cys277Trp SP substitution exon 1 VAR_047202 P04637:p.Asp281Asn SP substitution exon 1 VAR_047204 P04637:p.Glu287Ala SP substitution exon 1 VAR_047205 P04637:p.Lys291Gln SP substitution exon 1 VAR_047206 P04637:p.Glu294Lys SP substitution exon 1 VAR_047207 P04637:p.His296Leu SP substitution exon 1 VAR_047208 P04637:p.Pro301Thr SP substitution exon 1 VAR_047209 P04637:p.Thr304Ser SP substitution exon 1 VAR_047210 P04637:p.Gln317Leu SP substitution exon 1 VAR_047211 P04637:p.Leu323Val SP substitution exon 1 VAR_047212 P04637:p.Leu330Pro SP substitution exon 1 VAR_047213 P04637:p.Arg342Gln SP substitution exon 1 VAR_047216 P51878:p.Lys19Asn SP substitution exon 1 VAR_047217 P51878:p.Leu26Trp SP substitution exon 1 VAR_047218 P51878:p.Thr106Ala SP substitution exon 1 VAR_047219 P51878:p.Leu334Val SP substitution exon 1 VAR_047220 P51878:p.Glu353Lys SP substitution exon 1 VAR_047221 P52179:p.Val22Leu SP substitution exon 1 VAR_047222 P52179:p.Ser181Pro SP substitution exon 1 VAR_047223 P52179:p.Thr215Met SP substitution exon 1 VAR_047224 P52179:p.Gly341Ala SP substitution exon 1 VAR_047225 P52179:p.Glu600Val SP substitution exon 1 VAR_047226 P52179:p.Ile960Thr SP substitution exon 1 VAR_047227 P52179:p.Asp1408Asn SP substitution exon 1 VAR_047228 P52179:p.Met1453Thr SP substitution exon 1 VAR_047229 P52740:p.Gly203Asp SP substitution exon 1 VAR_047230 P52746:p.Ser751Gly SP substitution exon 1 VAR_047231 P52746:p.Leu956His SP substitution exon 1 VAR_047232 P52746:p.Ala1313Thr SP substitution exon 1 VAR_047233 Q13520:p.Val234Ile SP substitution exon 1 VAR_047234 Q8NGC0:p.Val80Met SP substitution exon 1 VAR_047235 Q8NGC0:p.Leu117Phe SP substitution exon 1 VAR_047236 Q8NGC0:p.Ile299Val SP substitution exon 1 VAR_047237 Q8NGC1:p.Ile99Asn SP substitution exon 1 VAR_047238 Q8NGC1:p.Val116Ile SP substitution exon 1 VAR_047239 Q5VYM1:p.Trp222Leu SP substitution exon 1 VAR_047240 Q5VYM1:p.Leu285Phe SP substitution exon 1 VAR_047241 Q5VYM1:p.Leu437Val SP substitution exon 1 VAR_047242 Q5VYM1:p.Ser623Thr SP substitution exon 1 VAR_047243 Q5VYM1:p.Pro916Ser SP substitution exon 1 VAR_047244 Q66K79:p.Pro6Leu SP substitution exon 1 VAR_047245 Q66K79:p.Gln130Leu SP substitution exon 1 VAR_047246 Q66K79:p.Ile486Thr SP substitution exon 1 VAR_047247 Q14156:p.Gly358Arg SP substitution exon 1 VAR_047248 Q14156:p.Asn365Asp SP substitution exon 1 VAR_047249 Q14162:p.Ala425Val SP substitution exon 1 VAR_047250 Q14162:p.Arg618Lys SP substitution exon 1 VAR_047251 Q14162:p.Glu639Asp SP substitution exon 1 VAR_047252 Q14162:p.Arg662Trp SP substitution exon 1 VAR_047253 Q14162:p.Gly667Ser SP substitution exon 1 VAR_047254 Q14162:p.Gly748Val SP substitution exon 1 VAR_047255 Q13614:p.Lys3Thr SP substitution exon 1 VAR_047258 Q70EL1:p.Lys976Glu SP substitution exon 1 VAR_047259 Q70EL1:p.Asp1231Asn SP substitution exon 1 VAR_047260 Q70EL1:p.Gly1367Asp SP substitution exon 1 VAR_047261 Q6ZS81:p.Ser2527Asn SP substitution exon 1 VAR_047263 Q8IZT6:p.Ile313Val SP substitution exon 1 VAR_047264 P04839:p.Trp18Cys SP substitution exon 1 VAR_047266 P04839:p.Cys59Trp SP substitution exon 1 VAR_047267 P04839:p.Gly179Arg SP substitution exon 1 VAR_047268 P04839:p.Ser193Phe SP substitution exon 1 VAR_047269 P04839:p.Phe205Ile SP substitution exon 1 VAR_047277 Q13332:p.Cys1457Arg SP substitution exon 1 VAR_047278 Q13398:p.Asp110Asn SP substitution exon 1 VAR_047279 P12111:p.Thr538Met SP substitution exon 1 VAR_047280 P12111:p.Arg659His SP substitution exon 1 VAR_047281 P12111:p.Val886Glu SP substitution exon 1 VAR_047282 P12111:p.Lys1088Gln SP substitution exon 1 VAR_047283 P12111:p.Pro2218Leu SP substitution exon 1 VAR_047284 P12111:p.Asn2805Thr SP substitution exon 1 VAR_047285 P12111:p.Met2927Thr SP substitution exon 1 VAR_047286 P12111:p.Met2988Val SP substitution exon 1 VAR_047287 P12111:p.Ala3012Pro SP substitution exon 1 VAR_047288 P12111:p.Thr3069Ile SP substitution exon 1 VAR_047289 P12270:p.Val1428Gly SP substitution exon 1 VAR_047290 P12270:p.Thr1707Ala SP substitution exon 1 VAR_047291 Q8IXT5:p.Ser250Phe SP substitution exon 1 VAR_047292 Q8IXT5:p.Arg605Cys SP substitution exon 1 VAR_047303 P10070:p.Asp449His SP substitution exon 1 VAR_047304 P10070:p.Ser579Ile SP substitution exon 1 VAR_047305 P10070:p.Pro625Ser SP substitution exon 1 VAR_047306 P10070:p.Ala1156Ser SP substitution exon 1 VAR_047308 O43426:p.Lys295Arg SP substitution exon 1 VAR_047309 O43426:p.Val1366Ala SP substitution exon 1 VAR_047311 O43506:p.Phe19Leu SP substitution exon 1 VAR_047312 A1A519:p.Pro173Ser SP substitution exon 1 VAR_047313 P62760:p.Ala65Gly SP substitution exon 1 VAR_047314 P62760:p.Lys172Arg SP substitution exon 1 VAR_047315 Q9NPF0:p.Gln8Arg SP substitution exon 1 VAR_047316 Q9NPF0:p.Gly220Arg SP substitution exon 1 VAR_047317 Q5H8C1:p.Val439Leu SP substitution exon 1 VAR_047318 Q5H8C1:p.Ile499Val SP substitution exon 1 VAR_047319 Q5H8C1:p.Ser803Tyr SP substitution exon 1 VAR_047320 Q5H8C1:p.Leu863Val SP substitution exon 1 VAR_047321 Q5H8C1:p.Ser1202Arg SP substitution exon 1 VAR_047322 Q5H8C1:p.Asp1273Glu SP substitution exon 1 VAR_047323 Q5H8C1:p.Val1502Met SP substitution exon 1 VAR_047324 Q5H8C1:p.Asn1576Ile SP substitution exon 1 VAR_047325 Q5H8C1:p.Gln2143Pro SP substitution exon 1 VAR_047326 Q5H8C1:p.Val2174Gly SP substitution exon 1 VAR_047327 Q58F21:p.Lys336Thr SP substitution exon 1 VAR_047328 Q58F21:p.Arg605Gln SP substitution exon 1 VAR_047329 Q58F21:p.Pro696Leu SP substitution exon 1 VAR_047330 Q5HYK9:p.Pro134Leu SP substitution exon 1 VAR_047331 Q68D86:p.Lys153Asn SP substitution exon 1 VAR_047332 Q68D86:p.Lys298Arg SP substitution exon 1 VAR_047333 Q68D86:p.Glu370Gly SP substitution exon 1 VAR_047334 Q68D86:p.Asn425Lys SP substitution exon 1 VAR_047335 Q6NV74:p.Ser315Cys SP substitution exon 1 VAR_047336 Q6PB30:p.Lys62Arg SP substitution exon 1 VAR_047337 Q6E0U4:p.Asp427Ala SP substitution exon 1 VAR_047338 Q68DY1:p.Met65Thr SP substitution exon 1 VAR_047339 Q68DY1:p.Gln89Glu SP substitution exon 1 VAR_047340 Q68DY1:p.Ser90Asn SP substitution exon 1 VAR_047343 Q86W34:p.His146Gln SP substitution exon 1 VAR_047344 Q86WD7:p.Ala24Val SP substitution exon 1 VAR_047345 Q86WD7:p.Pro218Leu SP substitution exon 1 VAR_047346 Q86WD7:p.His236Gln SP substitution exon 1 VAR_047347 Q86WD7:p.Arg292Ile SP substitution exon 1 VAR_047348 Q86WD7:p.Val330Ala SP substitution exon 1 VAR_047349 O43734:p.Asp19Asn SP substitution exon 1 VAR_047350 O43451:p.Gln404His SP substitution exon 1 VAR_047351 O43451:p.Ser542Leu SP substitution exon 1 VAR_047352 O43451:p.Asn858Asp SP substitution exon 1 VAR_047353 O43451:p.Leu1638Ile SP substitution exon 1 VAR_047354 Q3KQV3:p.Arg525Trp SP substitution exon 1 VAR_047357 Q49AM3:p.Ala28Val SP substitution exon 1 VAR_047358 Q49AM3:p.Thr205Pro SP substitution exon 1 VAR_047359 Q75WM6:p.Arg195Gln SP substitution exon 1 VAR_047360 Q14524:p.Leu618Phe SP substitution exon 1 VAR_047361 Q14524:p.Asp1041Asn SP substitution exon 1 VAR_047362 Q14524:p.Ala1180Val SP substitution exon 1 VAR_047364 Q15884:p.Thr233Ile SP substitution exon 1 VAR_047367 Q1HG44:p.Arg100Gly SP substitution exon 1 VAR_047368 Q16690:p.Pro322Leu SP substitution exon 1 VAR_047369 Q16798:p.Ser85Gly SP substitution exon 1 VAR_047370 Q16798:p.Lys324Asn SP substitution exon 1 VAR_047371 Q13574:p.Gln21Arg SP substitution exon 1 VAR_047372 Q14689:p.Pro191Ala SP substitution exon 1 VAR_047373 Q14689:p.Ser372Asn SP substitution exon 1 VAR_047374 Q16787:p.Thr2702Ala SP substitution exon 1 VAR_047375 Q16787:p.Asn2815Lys SP substitution exon 1 VAR_047376 Q13505:p.Thr63Ser SP substitution exon 1 VAR_047381 Q15154:p.Ser600Pro SP substitution exon 1 VAR_047382 Q15154:p.Glu1326Asp SP substitution exon 1 VAR_047383 Q15154:p.Lys1701Asn SP substitution exon 1 VAR_047384 Q15154:p.Asn1865Asp SP substitution exon 1 VAR_047385 P29973:p.Asn122Asp SP substitution exon 1 VAR_047389 Q8IYP9:p.His132Asn SP substitution exon 1 VAR_047390 Q8IYP9:p.Thr221Ala SP substitution exon 1 VAR_047391 Q8IYP9:p.Lys247Arg SP substitution exon 1 VAR_047392 Q8IYP9:p.His274Arg SP substitution exon 1 VAR_047393 Q8IYS5:p.Ser229Tyr SP substitution exon 1 VAR_047394 Q8IZ52:p.Gln371Arg SP substitution exon 1 VAR_047395 Q8IZD4:p.Asn195Asp SP substitution exon 1 VAR_047396 Q8IZD4:p.Asn216Ser SP substitution exon 1 VAR_047397 Q8IZD4:p.Ser301Thr SP substitution exon 1 VAR_047398 Q8IZD4:p.Arg344His SP substitution exon 1 VAR_047399 Q8IZU2:p.Ala814Thr SP substitution exon 1 VAR_047400 Q8IZU2:p.Cys913Ser SP substitution exon 1 VAR_047401 Q8IZU2:p.Glu952Lys SP substitution exon 1 VAR_047402 Q8IZU2:p.Ala1215Thr SP substitution exon 1 VAR_047403 Q8IZU2:p.Ala1295Thr SP substitution exon 1 VAR_047407 P10082:p.Arg37Gly SP substitution exon 1 VAR_047409 P10144:p.Pro94Ala SP substitution exon 1 VAR_047410 P10515:p.Ala43Val SP substitution exon 1 VAR_047411 P10515:p.Ser98Phe SP substitution exon 1 VAR_047412 P10515:p.Leu99Phe SP substitution exon 1 VAR_047413 P10515:p.Gln209Arg SP substitution exon 1 VAR_047414 P10515:p.Asp313Val SP substitution exon 1 VAR_047415 P10515:p.Val318Ala SP substitution exon 1 VAR_047416 P10515:p.Asp451Asn SP substitution exon 1 VAR_047417 P10645:p.Arg61Gln SP substitution exon 1 VAR_047418 P12645:p.Gln176Lys SP substitution exon 1 VAR_047419 P12645:p.Gln176Leu SP substitution exon 1 VAR_047420 P12645:p.Leu205Phe SP substitution exon 1 VAR_047421 P12645:p.Thr222Met SP substitution exon 1 VAR_047423 P13612:p.Ser634Thr SP substitution exon 1 VAR_047424 P13612:p.Val824Ala SP substitution exon 1 VAR_047425 P15621:p.Gly92Ala SP substitution exon 1 VAR_047426 P15621:p.Thr212Ala SP substitution exon 1 VAR_047427 P16885:p.Thr541Ala SP substitution exon 1 VAR_047429 P19012:p.Thr147Ala SP substitution exon 1 VAR_047430 P19012:p.Lys416Arg SP substitution exon 1 VAR_047431 P19012:p.Ala421Gly SP substitution exon 1 VAR_047432 Q8N423:p.Val235Met SP substitution exon 1 VAR_047433 Q8N423:p.Thr324Arg SP substitution exon 1 VAR_047434 Q8N423:p.Phe326Ser SP substitution exon 1 VAR_047435 Q8N423:p.Arg349Gly SP substitution exon 1 VAR_047436 Q8N4S9:p.Thr33Ile SP substitution exon 1 VAR_047437 Q8N7Q3:p.Gly27Glu SP substitution exon 1 VAR_047438 Q8N7Q3:p.Glu96Lys SP substitution exon 1 VAR_047439 Q8N7Q3:p.Ser292Trp SP substitution exon 1 VAR_047440 O60353:p.Met33Val SP substitution exon 1 VAR_047441 O60353:p.Met345Leu SP substitution exon 1 VAR_047442 O60353:p.Ala664Glu SP substitution exon 1 VAR_047443 O60494:p.Gly66Arg SP substitution exon 1 VAR_047444 O60494:p.Ile504Met SP substitution exon 1 VAR_047445 O60494:p.His730Tyr SP substitution exon 1 VAR_047446 O60494:p.Leu969Val SP substitution exon 1 VAR_047447 O60494:p.Arg1775Trp SP substitution exon 1 VAR_047448 O60494:p.Gly1840Ser SP substitution exon 1 VAR_047449 O60494:p.Ser1935Gly SP substitution exon 1 VAR_047450 O60494:p.Pro1971Thr SP substitution exon 1 VAR_047451 O60494:p.Phe2263Cys SP substitution exon 1 VAR_047452 O60494:p.Arg2444Gln SP substitution exon 1 VAR_047453 O60494:p.Glu2968Gln SP substitution exon 1 VAR_047454 O60602:p.Phe822Leu SP substitution exon 1 VAR_047455 O60883:p.Pro81Ala SP substitution exon 1 VAR_047456 O60883:p.Gly90Asp SP substitution exon 1 VAR_047457 O60883:p.Lys91Arg SP substitution exon 1 VAR_047458 O75165:p.Ala1463Ser SP substitution exon 1 VAR_047459 O75165:p.Phe1487Cys SP substitution exon 1 VAR_047460 O75165:p.Val1995Ile SP substitution exon 1 VAR_047461 O75437:p.Asp93Gly SP substitution exon 1 VAR_047462 O75437:p.Ala386Thr SP substitution exon 1 VAR_047463 O75437:p.Thr457Ala SP substitution exon 1 VAR_047465 O95625:p.Thr350Asn SP substitution exon 1 VAR_047466 O75478:p.Pro6Ser SP substitution exon 1 VAR_047467 O75478:p.Met115Val SP substitution exon 1 VAR_047469 O75674:p.Arg108Ser SP substitution exon 1 VAR_047471 O75762:p.Arg58Thr SP substitution exon 1 VAR_047472 O94855:p.Met42Thr SP substitution exon 1 VAR_047473 O94855:p.Pro193Leu SP substitution exon 1 VAR_047474 O94855:p.Phe496Ile SP substitution exon 1 VAR_047475 O95076:p.Pro234Ala SP substitution exon 1 VAR_047476 O95163:p.Arg70Cys SP substitution exon 1 VAR_047477 O95163:p.Met182Lys SP substitution exon 1 VAR_047478 O95163:p.Glu312Lys SP substitution exon 1 VAR_047479 O95163:p.Arg525Gln SP substitution exon 1 VAR_047480 O95163:p.Gly765Glu SP substitution exon 1 VAR_047481 O95163:p.Ile816Leu SP substitution exon 1 VAR_047482 O95163:p.Ile830Met SP substitution exon 1 VAR_047483 O95163:p.Thr848Asn SP substitution exon 1 VAR_047484 O95163:p.Lys952Ile SP substitution exon 1 VAR_047488 O95236:p.Ala135Val SP substitution exon 1 VAR_047489 O95347:p.Glu1009Lys SP substitution exon 1 VAR_047490 O95371:p.Gly16Ser SP substitution exon 1 VAR_047491 O95371:p.Cys149Trp SP substitution exon 1 VAR_047492 O95371:p.Arg229His SP substitution exon 1 VAR_047493 O95602:p.Pro150Ala SP substitution exon 1 VAR_047494 O95602:p.Gln349Glu SP substitution exon 1 VAR_047495 O95602:p.Lys364Glu SP substitution exon 1 VAR_047496 O95602:p.Ser396Asn SP substitution exon 1 VAR_047497 O95602:p.Ile815Val SP substitution exon 1 VAR_047500 O95759:p.Thr317Ala SP substitution exon 1 VAR_047501 Q6XPS3:p.Val367Ile SP substitution exon 1 VAR_047502 P60331:p.Val101Met SP substitution exon 1 VAR_047503 P60331:p.Arg241Gln SP substitution exon 1 VAR_047504 P60331:p.Pro280Leu SP substitution exon 1 VAR_047505 P60370:p.Phe183Cys SP substitution exon 1 VAR_047506 P60370:p.Tyr247Cys SP substitution exon 1 VAR_047507 P60370:p.Arg268Pro SP substitution exon 1 VAR_047508 P61956:p.Asp16Asn SP substitution exon 1 VAR_047509 Q00722:p.Asn324Ile SP substitution exon 1 VAR_047510 Q00722:p.Arg598His SP substitution exon 1 VAR_047511 Q00722:p.Pro664Leu SP substitution exon 1 VAR_047512 Q00722:p.Gly712Arg SP substitution exon 1 VAR_047513 Q00722:p.Glu1095Gly SP substitution exon 1 VAR_047515 Q03923:p.Thr266Ala SP substitution exon 1 VAR_047516 Q05086:p.Val290Gly SP substitution exon 1 VAR_047519 Q07283:p.Leu63Arg SP substitution exon 1 VAR_047520 Q07283:p.Val237Leu SP substitution exon 1 VAR_047521 Q07283:p.Arg552Ser SP substitution exon 1 VAR_047522 Q07283:p.Leu790Met SP substitution exon 1 VAR_047523 Q07283:p.Leu1258Val SP substitution exon 1 VAR_047524 Q07283:p.Lys1902Gln SP substitution exon 1 VAR_047525 Q07954:p.Asp2080Asn SP substitution exon 1 VAR_047526 Q07954:p.Gln2900Pro SP substitution exon 1 VAR_047527 Q07954:p.Glu4536Gly SP substitution exon 1 VAR_047530 Q08174:p.Leu15Phe SP substitution exon 1 VAR_047531 Q08174:p.His25Pro SP substitution exon 1 VAR_047532 Q08174:p.Ala514Thr SP substitution exon 1 VAR_047533 Q10571:p.Gln382His SP substitution exon 1 VAR_047534 Q12789:p.Gln1889Glu SP substitution exon 1 VAR_047535 Q12789:p.Phe1959Ser SP substitution exon 1 VAR_047536 Q12789:p.Glu2077Lys SP substitution exon 1 VAR_047537 Q12849:p.Asp277Tyr SP substitution exon 1 VAR_047538 Q9NX05:p.Ile82Thr SP substitution exon 1 VAR_047540 Q9NYA3:p.Trp200Arg SP substitution exon 1 VAR_047541 Q9NZA1:p.Pro257His SP substitution exon 1 VAR_047542 Q9NZM6:p.Val404Ile SP substitution exon 1 VAR_047543 Q9NZM6:p.Leu507Pro SP substitution exon 1 VAR_047544 Q9NZS2:p.Leu67Phe SP substitution exon 1 VAR_047545 Q9NZT1:p.Ser58Gly SP substitution exon 1 VAR_047546 Q9NZT1:p.Lys74Arg SP substitution exon 1 VAR_047547 Q9P0U3:p.Ala280Thr SP substitution exon 1 VAR_047548 Q92794:p.Leu134Ser SP substitution exon 1 VAR_047549 Q92813:p.Thr92Ala SP substitution exon 1 VAR_047550 Q92823:p.Pro545Ala SP substitution exon 1 VAR_047551 Q9NZW4:p.Asp243Asn SP substitution exon 1 VAR_047552 Q9NP58:p.Leu293Val SP substitution exon 1 VAR_047553 O75151:p.Thr56Pro SP substitution exon 1 VAR_047554 Q8WZ04:p.Leu16Pro SP substitution exon 1 VAR_047555 Q8WZ04:p.Arg158His SP substitution exon 1 VAR_047556 Q8WZ04:p.Arg208Gln SP substitution exon 1 VAR_047557 O43861:p.Ser39Gly SP substitution exon 1 VAR_047558 O43861:p.Asp504Asn SP substitution exon 1 VAR_047560 Q9H4Z2:p.Arg65Cys SP substitution exon 1 VAR_047561 Q9H4Z2:p.Gly101Ser SP substitution exon 1 VAR_047562 Q9H4Z2:p.Tyr603His SP substitution exon 1 VAR_047563 O00206:p.Cys306Trp SP substitution exon 1 VAR_047564 O00206:p.Val310Gly SP substitution exon 1 VAR_047565 Q16281:p.Pro48Leu SP substitution exon 1 VAR_047566 Q16281:p.Asp162Val SP substitution exon 1 VAR_047567 Q16281:p.Tyr181Cys SP substitution exon 1 VAR_047568 Q16281:p.Asn182Tyr SP substitution exon 1 VAR_047569 Q16281:p.Leu186Phe SP substitution exon 1 VAR_047570 Q16281:p.Cys191Tyr SP substitution exon 1 VAR_047571 Q16281:p.Glu194Lys SP substitution exon 1 VAR_047572 Q16281:p.Arg223Trp SP substitution exon 1 VAR_047573 Q16281:p.Thr224Arg SP substitution exon 1 VAR_047574 Q16281:p.Glu228Lys SP substitution exon 1 VAR_047575 Q16281:p.Phe249Ser SP substitution exon 1 VAR_047576 Q16281:p.Asp260Asn SP substitution exon 1 VAR_047577 Q16281:p.Tyr263Asp SP substitution exon 1 VAR_047578 Q16281:p.Gly267Asp SP substitution exon 1 VAR_047579 Q16281:p.Arg277Cys SP substitution exon 1 VAR_047580 Q16281:p.Arg277His SP substitution exon 1 VAR_047582 Q16281:p.Ser341Pro SP substitution exon 1 VAR_047583 Q16281:p.Thr369Ser SP substitution exon 1 VAR_047584 Q16281:p.Pro372Ser SP substitution exon 1 VAR_047585 Q16281:p.Phe380Ser SP substitution exon 1 VAR_047586 Q16281:p.Ser401Pro SP substitution exon 1 VAR_047587 Q16281:p.Met406Thr SP substitution exon 1 VAR_047588 Q16281:p.Arg427Cys SP substitution exon 1 VAR_047589 Q16281:p.Arg436Trp SP substitution exon 1 VAR_047590 Q16281:p.Arg439Trp SP substitution exon 1 VAR_047591 Q16281:p.Ala469Thr SP substitution exon 1 VAR_047592 Q16281:p.Asn471Ser SP substitution exon 1 VAR_047593 Q16281:p.Asp485Val SP substitution exon 1 VAR_047594 Q16281:p.Cys510Ser SP substitution exon 1 VAR_047595 Q16281:p.Gly513Glu SP substitution exon 1 VAR_047596 Q16281:p.Gly516Glu SP substitution exon 1 VAR_047597 Q16281:p.Ile522Thr SP substitution exon 1 VAR_047598 Q16281:p.Gly525Asp SP substitution exon 1 VAR_047599 Q16281:p.Gly548Arg SP substitution exon 1 VAR_047600 Q16281:p.Arg563His SP substitution exon 1 VAR_047601 Q16281:p.Thr565Met SP substitution exon 1 VAR_047602 Q16281:p.Arg569His SP substitution exon 1 VAR_047603 Q16281:p.Tyr573Cys SP substitution exon 1 VAR_047604 Q16281:p.Glu590Lys SP substitution exon 1 VAR_047605 Q16281:p.Glu593Lys SP substitution exon 1 VAR_047606 Q9NQW8:p.Arg25His SP substitution exon 1 VAR_047607 Q9NQW8:p.Asn27Ser SP substitution exon 1 VAR_047608 Q9NQW8:p.Gly107Arg SP substitution exon 1 VAR_047609 Q9NQW8:p.Lys148Glu SP substitution exon 1 VAR_047610 Q9NQW8:p.Ser156Phe SP substitution exon 1 VAR_047611 Q9NQW8:p.Glu199Lys SP substitution exon 1 VAR_047612 Q9NQW8:p.Pro309Leu SP substitution exon 1 VAR_047613 Q9NQW8:p.Arg403Gln SP substitution exon 1 VAR_047614 Q9NQW8:p.Met466Thr SP substitution exon 1 VAR_047615 Q9NQW8:p.Tyr469Asp SP substitution exon 1 VAR_047616 Q9NQW8:p.Asp494Asn SP substitution exon 1 VAR_047617 Q9NQW8:p.Asp513Tyr SP substitution exon 1 VAR_047618 Q9NQW8:p.Phe525Asn SP substitution exon 1 VAR_047619 Q9NQW8:p.Gly558Cys SP substitution exon 1 VAR_047620 Q9NQW8:p.Leu595Phe SP substitution exon 1 VAR_047621 Q9NQW8:p.Thr672Pro SP substitution exon 1 VAR_047623 P19087:p.Leu107Ile SP substitution exon 1 VAR_047624 P19087:p.Val124Met SP substitution exon 1 VAR_047626 Q96KN9:p.Ala90Val SP substitution exon 1 VAR_047627 Q6PEY0:p.Thr20Ile SP substitution exon 1 VAR_047628 Q6PEY0:p.Phe206Leu SP substitution exon 1 VAR_047629 Q99700:p.Leu107Val SP substitution exon 1 VAR_047630 Q99700:p.Ser248Asn SP substitution exon 1 VAR_047631 Q99973:p.Thr137Met SP substitution exon 1 VAR_047632 Q99973:p.Lys368Arg SP substitution exon 1 VAR_047633 Q99973:p.Lys434Asn SP substitution exon 1 VAR_047634 Q99973:p.Ser510Leu SP substitution exon 1 VAR_047635 Q99973:p.Ala553Gly SP substitution exon 1 VAR_047636 Q99973:p.Arg933His SP substitution exon 1 VAR_047637 Q99973:p.Arg1155Gln SP substitution exon 1 VAR_047638 Q99973:p.Arg1351Gln SP substitution exon 1 VAR_047639 Q99973:p.Gly1408Arg SP substitution exon 1 VAR_047640 Q99973:p.Arg1661Gln SP substitution exon 1 VAR_047641 Q99973:p.Arg1772Gln SP substitution exon 1 VAR_047643 Q99550:p.Gly125Ser SP substitution exon 1 VAR_047644 Q99550:p.Ala926Asp SP substitution exon 1 VAR_047645 Q9BQ75:p.Glu138Gly SP substitution exon 1 VAR_047646 Q99988:p.Val9Leu SP substitution exon 1 VAR_047647 Q99988:p.His202Asp SP substitution exon 1 VAR_047648 Q99674:p.Ala212Val SP substitution exon 1 VAR_047649 Q99674:p.Lys232Asn SP substitution exon 1 VAR_047650 Q99674:p.Gly243Glu SP substitution exon 1 VAR_047651 Q99952:p.Met193Val SP substitution exon 1 VAR_047652 Q9BX66:p.Leu61Pro SP substitution exon 1 VAR_047653 Q9BX66:p.Gly175Val SP substitution exon 1 VAR_047654 Q9BX66:p.Tyr485Cys SP substitution exon 1 VAR_047655 Q96MW5:p.Leu517Arg SP substitution exon 1 VAR_047656 Q9BT88:p.Gln48His SP substitution exon 1 VAR_047657 Q9BT88:p.Gly231Val SP substitution exon 1 VAR_047658 Q8NFP9:p.Ala569Pro SP substitution exon 1 VAR_047659 Q8NFP9:p.Ile2501Val SP substitution exon 1 VAR_047660 Q8NFP4:p.Leu61Pro SP substitution exon 1 VAR_047661 Q8NE31:p.Pro82His SP substitution exon 1 VAR_047662 Q8NEP3:p.Asp387Glu SP substitution exon 1 VAR_047663 Q8NEP3:p.Lys393Arg SP substitution exon 1 VAR_047664 Q8NEP3:p.Glu432Asp SP substitution exon 1 VAR_047665 Q8NEP3:p.Pro502Leu SP substitution exon 1 VAR_047666 Q8NEP3:p.Phe545Cys SP substitution exon 1 VAR_047667 Q8NEP3:p.Leu633Ser SP substitution exon 1 VAR_047668 Q8NEP3:p.Leu659Pro SP substitution exon 1 VAR_047669 Q8NEP3:p.Leu659Val SP substitution exon 1 VAR_047670 Q8NEP3:p.Ser675Thr SP substitution exon 1 VAR_047671 Q8NEP3:p.Gly703Arg SP substitution exon 1 VAR_047672 Q8NEP3:p.Pro712Ala SP substitution exon 1 VAR_047675 Q86T26:p.Asp325Ala SP substitution exon 1 VAR_047676 Q86UD7:p.Gly234Ser SP substitution exon 1 VAR_047677 P28698:p.Arg51His SP substitution exon 1 VAR_047678 P28698:p.Arg103His SP substitution exon 1 VAR_047679 P28698:p.Arg130Gln SP substitution exon 1 VAR_047680 P28698:p.Arg441Pro SP substitution exon 1 VAR_047681 P54687:p.Thr59Met SP substitution exon 1 VAR_047682 P54687:p.Gly330Ser SP substitution exon 1 VAR_047691 P20807:p.Glu622Ala SP substitution exon 1 VAR_047692 P20929:p.Thr146Ala SP substitution exon 1 VAR_047693 P20929:p.Glu191Gln SP substitution exon 1 VAR_047694 P20929:p.Lys1027Asn SP substitution exon 1 VAR_047695 P20929:p.Tyr1301His SP substitution exon 1 VAR_047696 P20929:p.Glu1469Asp SP substitution exon 1 VAR_047697 P20929:p.Val1479Ile SP substitution exon 1 VAR_047698 P20929:p.Val1491Met SP substitution exon 1 VAR_047699 P20929:p.Tyr1969His SP substitution exon 1 VAR_047700 P20929:p.Lys2613Asn SP substitution exon 1 VAR_047701 P20929:p.Arg2773Gln SP substitution exon 1 VAR_047702 P20929:p.Ser2912Pro SP substitution exon 1 VAR_047703 P20929:p.Val2952Gly SP substitution exon 1 VAR_047704 P20929:p.Trp3360Cys SP substitution exon 1 VAR_047705 P20929:p.Ser3887Thr SP substitution exon 1 VAR_047706 P20929:p.Pro4271Leu SP substitution exon 1 VAR_047707 P20929:p.Asn4337Ser SP substitution exon 1 VAR_047708 P20929:p.Arg4401Thr SP substitution exon 1 VAR_047709 P20929:p.Arg5463Pro SP substitution exon 1 VAR_047711 P23284:p.Val60Leu SP substitution exon 1 VAR_047712 P23490:p.Ser29Gly SP substitution exon 1 VAR_047713 P24043:p.Arg96Ser SP substitution exon 1 VAR_047714 P24043:p.Tyr240His SP substitution exon 1 VAR_047715 P24043:p.His644Asp SP substitution exon 1 VAR_047716 P24043:p.Val1138Met SP substitution exon 1 VAR_047717 P24043:p.Thr1205Ala SP substitution exon 1 VAR_047718 P24043:p.Lys1561Gln SP substitution exon 1 VAR_047719 P24043:p.Ala1945Thr SP substitution exon 1 VAR_047720 P24043:p.Ala2587Val SP substitution exon 1 VAR_047721 P24043:p.Thr2636Ala SP substitution exon 1 VAR_047722 P24043:p.Thr3029Ala SP substitution exon 1 VAR_047723 P12107:p.Trp8Gly SP substitution exon 1 VAR_047724 P12107:p.Asp46Glu SP substitution exon 1 VAR_047725 P12107:p.Gly559Ser SP substitution exon 1 VAR_047726 P12107:p.Pro1323Leu SP substitution exon 1 VAR_047727 P12107:p.Ser1535Pro SP substitution exon 1 VAR_047728 P12107:p.Leu1805Phe SP substitution exon 1 VAR_047729 P14651:p.Pro82Thr SP substitution exon 1 VAR_047730 P16499:p.Ala145Thr SP substitution exon 1 VAR_047731 P16499:p.Gln492His SP substitution exon 1 VAR_047736 P17039:p.Gln123Arg SP substitution exon 1 VAR_047737 P17039:p.Ala190Thr SP substitution exon 1 VAR_047738 P17039:p.Arg379Lys SP substitution exon 1 VAR_047739 P17039:p.Tyr400Cys SP substitution exon 1 VAR_047740 P12259:p.Ser781Arg SP substitution exon 1 VAR_047741 P12259:p.Leu1397Phe SP substitution exon 1 VAR_047742 P16871:p.Thr414Met SP substitution exon 1 VAR_047743 Q5VST9:p.Ala908Thr SP substitution exon 1 VAR_047744 Q5VST9:p.Asp2106Glu SP substitution exon 1 VAR_047745 Q5VST9:p.Phe2116Leu SP substitution exon 1 VAR_047746 Q5VST9:p.Arg2529Gln SP substitution exon 1 VAR_047747 Q5VST9:p.Val2720Met SP substitution exon 1 VAR_047748 Q5VST9:p.Arg2812Trp SP substitution exon 1 VAR_047749 Q5VST9:p.Glu3372Asp SP substitution exon 1 VAR_047750 Q5VST9:p.Ser3373Cys SP substitution exon 1 VAR_047751 Q5VST9:p.Gly4039Arg SP substitution exon 1 VAR_047752 O60344:p.His101Tyr SP substitution exon 1 VAR_047753 O60447:p.Asp82Val SP substitution exon 1 VAR_047755 O60663:p.Ser52Phe SP substitution exon 1 VAR_047757 O75352:p.Gly225Ser SP substitution exon 1 VAR_047758 O75352:p.Ala229Thr SP substitution exon 1 VAR_047759 Q6IF82:p.Gly82Asp SP substitution exon 1 VAR_047760 Q6IF82:p.Ile104Leu SP substitution exon 1 VAR_047761 Q6IF82:p.Val145Met SP substitution exon 1 VAR_047762 Q6IF82:p.Ala192Asp SP substitution exon 1 VAR_047765 Q4FZB7:p.Ile9Asn SP substitution exon 1 VAR_047768 O43663:p.Ala187Glu SP substitution exon 1 VAR_047769 O43663:p.Tyr511Cys SP substitution exon 1 VAR_047770 Q330K2:p.Gln99Arg SP substitution exon 1 VAR_047771 Q92784:p.Arg177His SP substitution exon 1 VAR_047772 Q9H322:p.Ala70Gly SP substitution exon 1 VAR_047773 Q9H322:p.Leu104Pro SP substitution exon 1 VAR_047774 Q9H322:p.Val110Leu SP substitution exon 1 VAR_047775 Q9H322:p.Thr138Ser SP substitution exon 1 VAR_047776 P40121:p.Val41Ile SP substitution exon 1 VAR_047777 P40121:p.Arg198Trp SP substitution exon 1 VAR_047780 P43155:p.Leu372Met SP substitution exon 1 VAR_047781 P43155:p.Ala624Pro SP substitution exon 1 VAR_047782 P40189:p.Leu8Val SP substitution exon 1 VAR_047783 P40189:p.Gly148Arg SP substitution exon 1 VAR_047784 P40189:p.Leu397Val SP substitution exon 1 VAR_047785 P40189:p.Ile454Thr SP substitution exon 1 VAR_047786 P40189:p.Val499Ile SP substitution exon 1 VAR_047787 P40926:p.Ala9Val SP substitution exon 1 VAR_047788 P48145:p.Tyr135Phe SP substitution exon 1 VAR_047789 P48145:p.Arg319Cys SP substitution exon 1 VAR_047790 P48147:p.Leu351Val SP substitution exon 1 VAR_047791 P48147:p.Val706Ile SP substitution exon 1 VAR_047792 P47736:p.Ala107Thr SP substitution exon 1 VAR_047793 P41226:p.His817Arg SP substitution exon 1 VAR_047794 P46939:p.Leu1880Ile SP substitution exon 1 VAR_047795 P46939:p.Ala1974Thr SP substitution exon 1 VAR_047796 P46939:p.Gly2060Asp SP substitution exon 1 VAR_047797 P46939:p.Asn2202Ser SP substitution exon 1 VAR_047798 Q13523:p.Ile584Val SP substitution exon 1 VAR_047799 Q9H0F6:p.Ser282Thr SP substitution exon 1 VAR_047800 Q9H0F6:p.Pro294Ser SP substitution exon 1 VAR_047801 Q9H0F6:p.Pro311Arg SP substitution exon 1 VAR_047802 Q07002:p.Gly46Ser SP substitution exon 1 VAR_047803 Q07002:p.Gly65Arg SP substitution exon 1 VAR_047804 Q07002:p.Thr164Met SP substitution exon 1 VAR_047805 Q9BT76:p.Trp319Arg SP substitution exon 1 VAR_047806 Q8NBS3:p.Asn72Thr SP substitution exon 1 VAR_047807 Q8NBS3:p.Met91Val SP substitution exon 1 VAR_047808 Q8NBS3:p.Ala327Val SP substitution exon 1 VAR_047809 Q8NBS3:p.Glu399Lys SP substitution exon 1 VAR_047810 Q8NBS3:p.Thr561Met SP substitution exon 1 VAR_047811 Q8NBS3:p.Ser565Leu SP substitution exon 1 VAR_047812 Q8NBS3:p.Gly709Glu SP substitution exon 1 VAR_047813 Q8NBS3:p.Thr754Met SP substitution exon 1 VAR_047814 Q53EP0:p.Met1080Val SP substitution exon 1 VAR_047815 P20853:p.Phe61Ile SP substitution exon 1 VAR_047816 P20853:p.Cys64Arg SP substitution exon 1 VAR_047817 P20853:p.His274Arg SP substitution exon 1 VAR_047818 P20853:p.Ala301Gly SP substitution exon 1 VAR_047819 P20853:p.Arg311Cys SP substitution exon 1 VAR_047820 P20853:p.Met368Thr SP substitution exon 1 VAR_047821 Q9BZV1:p.Pro425Leu SP substitution exon 1 VAR_047822 Q9Y233:p.Arg706Lys SP substitution exon 1 VAR_047823 Q9Y233:p.Asp707Asn SP substitution exon 1 VAR_047824 Q9Y6Y1:p.Asn1177Lys SP substitution exon 1 VAR_047825 Q9Y6Y1:p.Asn1218Thr SP substitution exon 1 VAR_047826 Q9Y6Y1:p.Thr1336Ile SP substitution exon 1 VAR_047827 Q8NGK3:p.Arg236His SP substitution exon 1 VAR_047828 Q92832:p.Arg82Gln SP substitution exon 1 VAR_047829 Q92832:p.Phe211Val SP substitution exon 1 VAR_047830 Q92832:p.Val287Ile SP substitution exon 1 VAR_047831 Q8NGB6:p.Gly96Glu SP substitution exon 1 VAR_047832 Q8NGB6:p.Asp121Asn SP substitution exon 1 VAR_047833 Q8NGB6:p.Phe225Leu SP substitution exon 1 VAR_047834 Q8NGB6:p.Met239Val SP substitution exon 1 VAR_047835 Q8NGB6:p.Arg284His SP substitution exon 1 VAR_047836 Q8NGG3:p.Trp84Gly SP substitution exon 1 VAR_047837 Q8WXS8:p.Arg179Cys SP substitution exon 1 VAR_047838 Q8WXS8:p.Leu590Pro SP substitution exon 1 VAR_047839 Q8WXS8:p.Leu937Met SP substitution exon 1 VAR_047840 Q8WXS8:p.Ser1017Asn SP substitution exon 1 VAR_047841 Q8WXS8:p.Glu1049Gly SP substitution exon 1 VAR_047842 Q92805:p.Asn220Ser SP substitution exon 1 VAR_047843 Q92805:p.Leu317Val SP substitution exon 1 VAR_047844 Q92805:p.Thr425Met SP substitution exon 1 VAR_047845 Q96H86:p.Ala332Val SP substitution exon 1 VAR_047846 Q8NHJ6:p.His20Asp SP substitution exon 1 VAR_047847 Q96CW9:p.Thr346Ala SP substitution exon 1 VAR_047848 Q86V71:p.His650Tyr SP substitution exon 1 VAR_047849 Q3LI77:p.Ala59Thr SP substitution exon 1 VAR_047850 P60369:p.Thr3Ala SP substitution exon 1 VAR_047851 P60369:p.Cys170Tyr SP substitution exon 1 VAR_047856 Q7LGC8:p.Arg222Trp SP substitution exon 1 VAR_047857 Q7LGC8:p.Leu259Pro SP substitution exon 1 VAR_047858 Q7LGC8:p.Leu307Pro SP substitution exon 1 VAR_047859 Q7LGC8:p.Glu372Lys SP substitution exon 1 VAR_047860 P26367:p.Arg19Pro SP substitution exon 1 VAR_047861 P26367:p.Leu46Arg SP substitution exon 1 VAR_047862 P26367:p.Cys52Arg SP substitution exon 1 VAR_047863 P26367:p.Ile56Thr SP substitution exon 1 VAR_047864 P26367:p.Gly73Asp SP substitution exon 1 VAR_047865 P26367:p.Ile87Lys SP substitution exon 1 VAR_047866 P26367:p.Arg242Thr SP substitution exon 1 VAR_047867 P26367:p.Ala321Thr SP substitution exon 1 VAR_047868 P26367:p.Gly387Asp SP substitution exon 1 VAR_047869 P52952:p.Ala119Ser SP substitution exon 1 VAR_047870 P52952:p.Arg161Pro SP substitution exon 1 VAR_047871 Q8N2E2:p.Lys964Asn SP substitution exon 1 VAR_047872 Q8N2E2:p.Thr1032Met SP substitution exon 1 VAR_047875 Q9Y694:p.Arg303Lys SP substitution exon 1 VAR_047876 Q9Y694:p.Arg327Trp SP substitution exon 1 VAR_047877 Q9Y694:p.Gly507Val SP substitution exon 1 VAR_047878 Q4U2R8:p.Pro104Leu SP substitution exon 1 VAR_047879 Q9UNS1:p.Ala129Ser SP substitution exon 1 VAR_047880 Q9UNS1:p.Asn471Ser SP substitution exon 1 VAR_047881 Q9UNS1:p.Met870Val SP substitution exon 1 VAR_047882 Q9UNS1:p.Arg922His SP substitution exon 1 VAR_047883 Q9UNS1:p.Arg924Trp SP substitution exon 1 VAR_047884 Q9UNS1:p.Ile1017Thr SP substitution exon 1 VAR_047885 P16435:p.Pro225Leu SP substitution exon 1 VAR_047886 P16435:p.Asp252Asn SP substitution exon 1 VAR_047887 O15230:p.Thr401Ala SP substitution exon 1 VAR_047888 O15230:p.Thr1671Met SP substitution exon 1 VAR_047889 O15320:p.Val6Ala SP substitution exon 1 VAR_047890 O15320:p.Tyr11Asp SP substitution exon 1 VAR_047891 O15320:p.Lys205Asn SP substitution exon 1 VAR_047892 O15320:p.Lys250Glu SP substitution exon 1 VAR_047893 O15320:p.Glu360Gln SP substitution exon 1 VAR_047894 O15320:p.Asn375Ser SP substitution exon 1 VAR_047895 O15320:p.Ile699Val SP substitution exon 1 VAR_047897 O15394:p.Asp347Asn SP substitution exon 1 VAR_047898 O15394:p.Leu350Pro SP substitution exon 1 VAR_047899 O15534:p.Ala962Pro SP substitution exon 1 VAR_047900 O15534:p.Arg968His SP substitution exon 1 VAR_047902 P82933:p.Ser13Leu SP substitution exon 1 VAR_047903 P37802:p.Leu69Gln SP substitution exon 1 VAR_047904 Q6ZP82:p.Arg253Trp SP substitution exon 1 VAR_047905 Q6ZP82:p.Arg360Trp SP substitution exon 1 VAR_047906 Q6ZP82:p.Asn595Ser SP substitution exon 1 VAR_047907 P33076:p.Arg174Gly SP substitution exon 1 VAR_047908 P33076:p.Gln900Arg SP substitution exon 1 VAR_047909 P46934:p.Arg679Gln SP substitution exon 1 VAR_047910 P46934:p.Asn698Ser SP substitution exon 1 VAR_047911 P39656:p.Arg8Gly SP substitution exon 1 VAR_047912 P49641:p.Gln412Arg SP substitution exon 1 VAR_047913 P49641:p.Ser665Phe SP substitution exon 1 VAR_047914 P49754:p.Thr146Pro SP substitution exon 1 VAR_047915 P49754:p.Cys647Arg SP substitution exon 1 VAR_047917 O75746:p.Arg473Gln SP substitution exon 1 VAR_047918 O94876:p.Ser165Gly SP substitution exon 1 VAR_047919 O94952:p.Asn180Thr SP substitution exon 1 VAR_047920 O95171:p.Val336Leu SP substitution exon 1 VAR_047921 O95171:p.Arg386Lys SP substitution exon 1 VAR_047922 O95171:p.Lys480Arg SP substitution exon 1 VAR_047924 O95398:p.Ala16Pro SP substitution exon 1 VAR_047925 O95398:p.Arg193Gly SP substitution exon 1 VAR_047926 O95398:p.Gly374Ser SP substitution exon 1 VAR_047927 O95450:p.Val74Met SP substitution exon 1 VAR_047928 O95450:p.Arg241His SP substitution exon 1 VAR_047929 O95450:p.Glu331Lys SP substitution exon 1 VAR_047930 O95450:p.Gly665Arg SP substitution exon 1 VAR_047931 O95450:p.Arg827Gln SP substitution exon 1 VAR_047932 O94986:p.Ser54Leu SP substitution exon 1 VAR_047934 O95487:p.Ala456Gly SP substitution exon 1 VAR_047935 O75185:p.Gly411Ser SP substitution exon 1 VAR_047936 O75185:p.Met466Leu SP substitution exon 1 VAR_047937 O75185:p.Leu907Pro SP substitution exon 1 VAR_047938 Q9Y3I1:p.Arg378Gly SP substitution exon 1 VAR_047940 P15882:p.Leu20Phe SP substitution exon 1 VAR_047941 P15882:p.Ile126Met SP substitution exon 1 VAR_047942 P15882:p.Tyr143His SP substitution exon 1 VAR_047943 P15882:p.Ala223Val SP substitution exon 1 VAR_047944 P15882:p.Gly228Ser SP substitution exon 1 VAR_047947 Q13614:p.Arg283Trp SP substitution exon 1 VAR_047948 P06028:p.Thr22Ser SP substitution exon 1 VAR_047949 P06028:p.Arg54His SP substitution exon 1 VAR_047950 P06028:p.Pro58Arg SP substitution exon 1 VAR_047951 P08697:p.Ala2Val SP substitution exon 1 VAR_047953 Q99836:p.Leu93Pro SP substitution exon 1 VAR_047954 Q99836:p.Arg196Cys SP substitution exon 1 VAR_047955 Q5VWK5:p.Thr175Asn SP substitution exon 1 VAR_047956 Q8NHX9:p.Met484Leu SP substitution exon 1 VAR_047957 P28472:p.Gly32Arg SP substitution exon 1 VAR_047958 P28472:p.Gln173Leu SP substitution exon 1 VAR_047959 P28472:p.Arg217His SP substitution exon 1 VAR_047960 P15309:p.Ser15Asn SP substitution exon 1 VAR_047961 P15309:p.Phe124Val SP substitution exon 1 VAR_047962 P15309:p.Trp226Arg SP substitution exon 1 VAR_047963 P15309:p.Tyr330His SP substitution exon 1 VAR_047964 P15309:p.Val360Ala SP substitution exon 1 VAR_047965 Q9H094:p.Asp444Glu SP substitution exon 1 VAR_047967 Q7L1T6:p.Arg140His SP substitution exon 1 VAR_047968 Q7L1T6:p.Pro267Ala SP substitution exon 1 VAR_047969 Q7L1T6:p.Pro316Ser SP substitution exon 1 VAR_047970 Q13093:p.Leu45Pro SP substitution exon 1 VAR_047971 Q13093:p.Lys191Asn SP substitution exon 1 VAR_047972 P55884:p.Ser64Pro SP substitution exon 1 VAR_047975 Q02446:p.Gln197Lys SP substitution exon 1 VAR_047976 Q00341:p.Ser61Ala SP substitution exon 1 VAR_047977 P78509:p.Thr978Ala SP substitution exon 1 VAR_047978 P78509:p.Leu997Val SP substitution exon 1 VAR_047979 P98160:p.Asp68Glu SP substitution exon 1 VAR_047980 P98160:p.Met638Val SP substitution exon 1 VAR_047981 P98160:p.Asn765Ser SP substitution exon 1 VAR_047982 P98160:p.Arg1186Gln SP substitution exon 1 VAR_047983 P98160:p.Ala1503Val SP substitution exon 1 VAR_047984 P98160:p.Arg1758Gln SP substitution exon 1 VAR_047985 P98160:p.Arg1919Cys SP substitution exon 1 VAR_047986 P98160:p.Val1967Ile SP substitution exon 1 VAR_047987 P98160:p.Leu2980His SP substitution exon 1 VAR_047988 P98160:p.Val2981Ile SP substitution exon 1 VAR_047989 P98160:p.Ser2995Gly SP substitution exon 1 VAR_047990 P98160:p.Ala3168Thr SP substitution exon 1 VAR_047991 P98160:p.His3256Tyr SP substitution exon 1 VAR_047992 P98160:p.Arg3530Trp SP substitution exon 1 VAR_047993 P98160:p.Arg3632Gln SP substitution exon 1 VAR_047994 P98160:p.Val3640Ile SP substitution exon 1 VAR_047995 P98160:p.Ser4331Asn SP substitution exon 1 VAR_047999 Q02094:p.Asn242Asp SP substitution exon 1 VAR_048000 Q02742:p.Ile152Val SP substitution exon 1 VAR_048001 Q02742:p.Ser158Cys SP substitution exon 1 VAR_048002 Q02763:p.Gln346Pro SP substitution exon 1 VAR_048003 Q02763:p.Thr391Ile SP substitution exon 1 VAR_048005 O60880:p.Tyr7Cys SP substitution exon 1 VAR_048006 O60880:p.His8Asp SP substitution exon 1 VAR_048007 O60880:p.Gly16Asp SP substitution exon 1 VAR_048008 O60880:p.Gly27Ser SP substitution exon 1 VAR_048009 O60880:p.Ser28Arg SP substitution exon 1 VAR_048010 O60880:p.Leu31Pro SP substitution exon 1 VAR_048011 O60880:p.Asp33Tyr SP substitution exon 1 VAR_048012 O60880:p.Cys42Trp SP substitution exon 1 VAR_048013 O60880:p.Gly49Val SP substitution exon 1 VAR_048014 O60880:p.Thr53Ile SP substitution exon 1 VAR_048015 O60880:p.Tyr54Cys SP substitution exon 1 VAR_048016 O60880:p.Ser57Pro SP substitution exon 1 VAR_048017 O60880:p.Ile84Thr SP substitution exon 1 VAR_048018 O60880:p.Phe87Ser SP substitution exon 1 VAR_048019 O60880:p.Gln99Pro SP substitution exon 1 VAR_048020 O60880:p.Val102Gly SP substitution exon 1 VAR_048021 O14745:p.Arg153Gln SP substitution exon 1 VAR_048022 O14745:p.Glu225Lys SP substitution exon 1 VAR_048023 O43364:p.Gln186Lys SP substitution exon 1 VAR_048024 P15382:p.Gly52Ala SP substitution exon 1 VAR_048025 P51787:p.Lys362Arg SP substitution exon 1 VAR_048028 Q8NGR9:p.Trp37Arg SP substitution exon 1 VAR_048029 Q8NGR9:p.Val244Gly SP substitution exon 1 VAR_048030 Q8NGR9:p.Thr301Met SP substitution exon 1 VAR_048031 Q8NGD0:p.Gly232Asp SP substitution exon 1 VAR_048032 Q8NGD1:p.Ile76Thr SP substitution exon 1 VAR_048033 Q8NGD1:p.Pro133Ser SP substitution exon 1 VAR_048034 Q8N0Y3:p.Leu61Phe SP substitution exon 1 VAR_048035 Q8N0Y3:p.Leu86Phe SP substitution exon 1 VAR_048036 Q8N0Y3:p.Thr239Met SP substitution exon 1 VAR_048037 Q8N0Y3:p.Phe274Leu SP substitution exon 1 VAR_048038 Q8NGZ3:p.Ile132Val SP substitution exon 1 VAR_048039 Q8NH92:p.Ser5Gly SP substitution exon 1 VAR_048040 Q8NH92:p.Ile123Thr SP substitution exon 1 VAR_048041 Q8NH92:p.His135Arg SP substitution exon 1 VAR_048042 Q8NH92:p.Asn183Asp SP substitution exon 1 VAR_048043 Q8NH92:p.Leu206Met SP substitution exon 1 VAR_048044 Q8NH92:p.Ser227Ile SP substitution exon 1 VAR_048045 Q8NGI9:p.Phe103Leu SP substitution exon 1 VAR_048046 Q8NGL1:p.Tyr36Cys SP substitution exon 1 VAR_048047 Q8NGL1:p.Asn136Asp SP substitution exon 1 VAR_048048 Q8WZ94:p.Thr158Lys SP substitution exon 1 VAR_048049 Q8NGN1:p.Ile23Thr SP substitution exon 1 VAR_048050 Q8NGN1:p.Arg64Trp SP substitution exon 1 VAR_048051 Q8NGN1:p.Ile251Val SP substitution exon 1 VAR_048052 Q8NGG0:p.Asn57Thr SP substitution exon 1 VAR_048053 Q8NGG0:p.Val87Ile SP substitution exon 1 VAR_048054 Q8NGG0:p.Val208Phe SP substitution exon 1 VAR_048055 Q8NGG0:p.Asp271Glu SP substitution exon 1 VAR_048056 Q8NH50:p.Phe68Ser SP substitution exon 1 VAR_048057 Q8NGE7:p.Arg45Cys SP substitution exon 1 VAR_048058 Q8NGE7:p.Glu103Ala SP substitution exon 1 VAR_048059 Q8NGE7:p.Arg207His SP substitution exon 1 VAR_048060 Q8NGN6:p.Thr13Met SP substitution exon 1 VAR_048061 Q8NGN6:p.Ala18Val SP substitution exon 1 VAR_048062 Q8NGN6:p.Gly20Ala SP substitution exon 1 VAR_048063 Q8NGN6:p.Ile28Val SP substitution exon 1 VAR_048064 Q8NGN6:p.Thr90Ala SP substitution exon 1 VAR_048065 Q8NGI7:p.Val117Ala SP substitution exon 1 VAR_048066 Q96RD3:p.Ile39Val SP substitution exon 1 VAR_048067 Q96RD3:p.Phe48Leu SP substitution exon 1 VAR_048068 Q96RD3:p.Cys64Phe SP substitution exon 1 VAR_048069 Q96RD3:p.Ser95Pro SP substitution exon 1 VAR_048070 Q96RD3:p.Trp133Arg SP substitution exon 1 VAR_048071 Q96RD3:p.Ile159Val SP substitution exon 1 VAR_048072 Q96RD3:p.Phe170Tyr SP substitution exon 1 VAR_048073 Q96RD3:p.Met199Arg SP substitution exon 1 VAR_048074 Q8NGA0:p.Val83Ala SP substitution exon 1 VAR_048075 Q8NGA0:p.Ala156Val SP substitution exon 1 VAR_048076 Q8NGA0:p.Ser167Phe SP substitution exon 1 VAR_048077 Q8NGF0:p.Thr57Ala SP substitution exon 1 VAR_048078 Q8NGF0:p.Leu111His SP substitution exon 1 VAR_048079 Q8NGF0:p.Ala167Thr SP substitution exon 1 VAR_048080 Q8NGF0:p.His170Arg SP substitution exon 1 VAR_048081 Q8NGF0:p.Val288Ile SP substitution exon 1 VAR_048082 Q8NH67:p.Leu25Pro SP substitution exon 1 VAR_048083 Q8NH67:p.Ile74Leu SP substitution exon 1 VAR_048084 Q8NH67:p.Thr167Met SP substitution exon 1 VAR_048085 Q8NH67:p.Ile178Val SP substitution exon 1 VAR_048086 Q8NH67:p.Ile183Val SP substitution exon 1 VAR_048087 Q13087:p.Pro39Ser SP substitution exon 1 VAR_048088 Q13087:p.Thr119Arg SP substitution exon 1 VAR_048089 Q13087:p.Glu185Lys SP substitution exon 1 VAR_048090 Q13087:p.Thr286Met SP substitution exon 1 VAR_048094 Q8WZ94:p.Phe251Leu SP substitution exon 1 VAR_048095 P31947:p.Met155Ile SP substitution exon 1 VAR_048096 P14060:p.Thr54Ile SP substitution exon 1 VAR_048097 P14060:p.Arg71Ile SP substitution exon 1 VAR_048098 P14060:p.Gly90Ser SP substitution exon 1 VAR_048099 P26439:p.Asp74Asn SP substitution exon 1 VAR_048100 Q9H2F3:p.Leu347Pro SP substitution exon 1 VAR_048101 P32754:p.Arg113Gln SP substitution exon 1 VAR_048102 Q8TCD5:p.Pro68Leu SP substitution exon 1 VAR_048103 P21589:p.Met379Thr SP substitution exon 1 VAR_048104 P52209:p.Ala268Ser SP substitution exon 1 VAR_048105 Q6YHK3:p.Gly377Asp SP substitution exon 1 VAR_048106 Q6YHK3:p.Leu641Phe SP substitution exon 1 VAR_048107 Q6YHK3:p.Val1009Met SP substitution exon 1 VAR_048108 Q6YHK3:p.His1296Arg SP substitution exon 1 VAR_048109 O15381:p.Val295Ile SP substitution exon 1 VAR_048110 O15381:p.Val404Ile SP substitution exon 1 VAR_048111 Q9BVQ7:p.Arg119Pro SP substitution exon 1 VAR_048112 Q9BVQ7:p.Asn592Asp SP substitution exon 1 VAR_048113 O43933:p.Ile640Arg SP substitution exon 1 VAR_048114 Q13608:p.Ala809Val SP substitution exon 1 VAR_048115 Q13608:p.Val882Ile SP substitution exon 1 VAR_048116 Q13608:p.Pro939Gln SP substitution exon 1 VAR_048117 Q9UQ90:p.Phe623Cys SP substitution exon 1 VAR_048118 Q9UQ90:p.Asn730Asp SP substitution exon 1 VAR_048119 P62195:p.Arg258Trp SP substitution exon 1 VAR_048120 Q5T9A4:p.Val7Ile SP substitution exon 1 VAR_048121 Q9H598:p.Ser423Gly SP substitution exon 1 VAR_048122 Q7Z2H8:p.Phe362Leu SP substitution exon 1 VAR_048123 Q969I6:p.Gly29Arg SP substitution exon 1 VAR_048124 Q969I6:p.Thr366Met SP substitution exon 1 VAR_048125 A6NNN8:p.Ser220Thr SP substitution exon 1 VAR_048126 Q9HBR0:p.Lys559Arg SP substitution exon 1 VAR_048127 Q9Y312:p.Pro124Thr SP substitution exon 1 VAR_048128 Q8WWZ7:p.Ala178Thr SP substitution exon 1 VAR_048130 O94911:p.Ala416Val SP substitution exon 1 VAR_048131 O94911:p.Leu619Arg SP substitution exon 1 VAR_048132 O94911:p.Gly1430Ser SP substitution exon 1 VAR_048133 Q9NRK6:p.Arg242Gly SP substitution exon 1 VAR_048134 O14678:p.Val172Ile SP substitution exon 1 VAR_048135 O14678:p.Thr350Arg SP substitution exon 1 VAR_048139 Q96J65:p.Glu690Val SP substitution exon 1 VAR_048140 Q96J65:p.Ile1187Thr SP substitution exon 1 VAR_048141 Q9H172:p.Pro352Leu SP substitution exon 1 VAR_048142 Q9H222:p.Arg50Cys SP substitution exon 1 VAR_048143 O60706:p.Pro1108Ser SP substitution exon 1 VAR_048144 Q96J66:p.Ala317Glu SP substitution exon 1 VAR_048145 Q96J66:p.Thr546Met SP substitution exon 1 VAR_048146 Q96J66:p.Val648Ile SP substitution exon 1 VAR_048147 Q96J66:p.Val687Ile SP substitution exon 1 VAR_048148 Q96J66:p.Lys735Arg SP substitution exon 1 VAR_048149 Q96J66:p.His1344Arg SP substitution exon 1 VAR_048150 P13569:p.Lys532Glu SP substitution exon 1 VAR_048151 P13569:p.Ser605Phe SP substitution exon 1 VAR_048153 P82251:p.Val142Ala SP substitution exon 1 VAR_048154 Q8WY07:p.Leu508Val SP substitution exon 1 VAR_048155 O43246:p.Thr28Ile SP substitution exon 1 VAR_048156 O43246:p.Ala349Thr SP substitution exon 1 VAR_048157 Q01650:p.Asn230Lys SP substitution exon 1 VAR_048158 Q9NS82:p.Arg413Gln SP substitution exon 1 VAR_048159 Q8IZP0:p.Gly331Ala SP substitution exon 1 VAR_048160 P07108:p.Asp39Asn SP substitution exon 1 VAR_048161 P07108:p.Met71Val SP substitution exon 1 VAR_048162 P07108:p.Gly86Arg SP substitution exon 1 VAR_048163 P05166:p.Pro287Ser SP substitution exon 1 VAR_048164 Q9BSU3:p.Ala6Thr SP substitution exon 1 VAR_048165 Q9BSU3:p.Leu19Phe SP substitution exon 1 VAR_048167 Q5FWF5:p.Asn191Ser SP substitution exon 1 VAR_048168 Q16613:p.Arg15Cys SP substitution exon 1 VAR_048169 P11230:p.Glu32Gly SP substitution exon 1 VAR_048170 Q04844:p.Gly18Val SP substitution exon 1 VAR_048171 Q15825:p.Asn447Ser SP substitution exon 1 VAR_048173 Q05901:p.Lys451Glu SP substitution exon 1 VAR_048174 P30926:p.Thr91Ile SP substitution exon 1 VAR_048175 P78334:p.Ser102Ala SP substitution exon 1 VAR_048176 P49748:p.Pro65Leu SP substitution exon 1 VAR_048177 P45954:p.Arg13Lys SP substitution exon 1 VAR_048178 P45954:p.Ile316Val SP substitution exon 1 VAR_048180 P21399:p.Ala395Asp SP substitution exon 1 VAR_048181 P21399:p.Gly486Arg SP substitution exon 1 VAR_048182 Q15067:p.Gly101Ser SP substitution exon 1 VAR_048183 Q8IVS2:p.Ala303Gly SP substitution exon 1 VAR_048184 Q9NUB1:p.Val488Met SP substitution exon 1 VAR_048185 P60709:p.Pro243Leu SP substitution exon 1 VAR_048186 P63261:p.Thr160Ile SP substitution exon 1 VAR_048187 P42025:p.Ala143Val SP substitution exon 1 VAR_048188 Q9P1U1:p.Arg250Gln SP substitution exon 1 VAR_048189 Q9H9F9:p.Ile461Leu SP substitution exon 1 VAR_048190 Q8WXI4:p.Arg11Trp SP substitution exon 1 VAR_048191 Q8WXI4:p.Arg536His SP substitution exon 1 VAR_048192 Q8WYK0:p.Val230Ile SP substitution exon 1 VAR_048193 Q8WYK0:p.Ala403Thr SP substitution exon 1 VAR_048194 O43747:p.Val195Gly SP substitution exon 1 VAR_048195 P35612:p.Ser98Cys SP substitution exon 1 VAR_048196 O60234:p.Glu122Lys SP substitution exon 1 VAR_048197 O60234:p.Glu136Lys SP substitution exon 1 VAR_048198 P28332:p.Thr151Pro SP substitution exon 1 VAR_048200 Q08257:p.Glu183Lys SP substitution exon 1 VAR_048201 Q53FA7:p.Glu223Lys SP substitution exon 1 VAR_048203 Q86V24:p.Gln39Arg SP substitution exon 1 VAR_048204 Q86WK9:p.Gly272Arg SP substitution exon 1 VAR_048205 P35318:p.Pro85Arg SP substitution exon 1 VAR_048206 Q5JQC9:p.His233Arg SP substitution exon 1 VAR_048207 Q9UKA4:p.His1070Arg SP substitution exon 1 VAR_048208 Q9UKA4:p.Leu1410Phe SP substitution exon 1 VAR_048209 O43488:p.Val135Met SP substitution exon 1 VAR_048210 O43488:p.Gly198Ser SP substitution exon 1 VAR_048212 P14550:p.Asn52Ser SP substitution exon 1 VAR_048213 P15121:p.Lys90Glu SP substitution exon 1 VAR_048214 Q04828:p.Arg170His SP substitution exon 1 VAR_048215 Q04828:p.Gln172Leu SP substitution exon 1 VAR_048216 P52895:p.Phe46Tyr SP substitution exon 1 VAR_048217 Q5I7T1:p.Ala84Gly SP substitution exon 1 VAR_048218 P43652:p.Thr404Ser SP substitution exon 1 VAR_048219 P04075:p.Glu82Gln SP substitution exon 1 VAR_048220 P04075:p.Gly142Val SP substitution exon 1 VAR_048221 Q13686:p.Met135Ile SP substitution exon 1 VAR_048222 Q13686:p.Met324Leu SP substitution exon 1 VAR_048223 Q6NS38:p.Arg203His SP substitution exon 1 VAR_048224 Q9BT30:p.Arg191Gln SP substitution exon 1 VAR_048225 Q9NP70:p.Ala255Val SP substitution exon 1 VAR_048226 P17735:p.Asn70Asp SP substitution exon 1 VAR_048227 Q96QU6:p.Asp59Asn SP substitution exon 1 VAR_048228 Q96QU6:p.Asp134Glu SP substitution exon 1 VAR_048229 O75600:p.Ser100Asn SP substitution exon 1 VAR_048230 Q9NUV7:p.Leu140Val SP substitution exon 1 VAR_048231 Q9BYV1:p.Gly132Arg SP substitution exon 1 VAR_048232 Q9BYV1:p.Pro492Arg SP substitution exon 1 VAR_048233 Q8IUZ5:p.His126Arg SP substitution exon 1 VAR_048234 O15382:p.Thr186Arg SP substitution exon 1 VAR_048235 Q9Y617:p.Pro87Ala SP substitution exon 1 VAR_048236 P21549:p.Asn22Ser SP substitution exon 1 VAR_048238 Q08AH1:p.Ile272Met SP substitution exon 1 VAR_048239 Q53FZ2:p.Asp270His SP substitution exon 1 VAR_048240 Q9ULC5:p.Thr486Ala SP substitution exon 1 VAR_048241 Q5K4L6:p.Gly110Ala SP substitution exon 1 VAR_048242 Q5K4L6:p.Arg439His SP substitution exon 1 VAR_048243 Q9Y2P5:p.Met50Thr SP substitution exon 1 VAR_048244 Q9Y2P5:p.Arg53Trp SP substitution exon 1 VAR_048245 Q9Y2P4:p.Leu19Val SP substitution exon 1 VAR_048246 Q08828:p.Val984Met SP substitution exon 1 VAR_048247 Q08462:p.Val163Ile SP substitution exon 1 VAR_048248 O60266:p.Ser107Pro SP substitution exon 1 VAR_048249 O43306:p.Ala674Ser SP substitution exon 1 VAR_048250 Q9UGJ0:p.Met6Leu SP substitution exon 1 VAR_048251 Q9UGI9:p.Leu153Val SP substitution exon 1 VAR_048252 Q9UGI9:p.Arg340Trp SP substitution exon 1 VAR_048253 P20073:p.Arg441Gln SP substitution exon 1 VAR_048254 Q5VT79:p.Ala177Gly SP substitution exon 1 VAR_048255 O76027:p.Ala28Thr SP substitution exon 1 VAR_048256 O76027:p.Thr114Ala SP substitution exon 1 VAR_048257 O76027:p.Ala119Thr SP substitution exon 1 VAR_048258 O76027:p.Arg232Gln SP substitution exon 1 VAR_048259 P50995:p.Arg191Gln SP substitution exon 1 VAR_048260 Q96RQ9:p.Ala501Ser SP substitution exon 1 VAR_048261 Q9UBZ4:p.Arg141Trp SP substitution exon 1 VAR_048262 Q9UIF7:p.Ala370Val SP substitution exon 1 VAR_048263 P16157:p.Thr1075Ile SP substitution exon 1 VAR_048264 Q9P2S6:p.Asp89Asn SP substitution exon 1 VAR_048265 Q9P2S6:p.Ile424Met SP substitution exon 1 VAR_048266 Q9P2S6:p.Asp451Val SP substitution exon 1 VAR_048267 Q9P2S6:p.Val472Leu SP substitution exon 1 VAR_048268 Q9P2S6:p.Thr649Met SP substitution exon 1 VAR_048271 Q6UB98:p.Glu390Asp SP substitution exon 1 VAR_048272 Q6UB98:p.Thr507Ile SP substitution exon 1 VAR_048273 Q6UB98:p.Thr531Ser SP substitution exon 1 VAR_048274 Q6UB98:p.Leu998Ser SP substitution exon 1 VAR_048276 Q8IZ07:p.Leu505Pro SP substitution exon 1 VAR_048277 Q6S5H4:p.Ala242Thr SP substitution exon 1 VAR_048278 Q8N283:p.Asn53Lys SP substitution exon 1 VAR_048279 Q7Z713:p.Thr152Ser SP substitution exon 1 VAR_048280 A6NEL2:p.Pro377Thr SP substitution exon 1 VAR_048281 Q8IWZ3:p.Gly1586Ser SP substitution exon 1 VAR_048282 Q92625:p.Ala355Asp SP substitution exon 1 VAR_048283 Q6ZW76:p.Ala404Thr SP substitution exon 1 VAR_048285 Q9ULH0:p.Ile538Thr SP substitution exon 1 VAR_048286 Q8WXH4:p.Asp249Asn SP substitution exon 1 VAR_048287 Q8WXH4:p.Ser263Gly SP substitution exon 1 VAR_048288 Q8WXJ9:p.Val101Ala SP substitution exon 1 VAR_048289 Q6ZVZ8:p.Ala104Thr SP substitution exon 1 VAR_048290 Q6ZVZ8:p.His407Asn SP substitution exon 1 VAR_048294 Q8WZ74:p.Gln1148Lys SP substitution exon 1 VAR_048295 Q8TDY4:p.Glu377Ala SP substitution exon 1 VAR_048296 Q8TC84:p.Pro12Leu SP substitution exon 1 VAR_048297 Q8TC84:p.Cys343Phe SP substitution exon 1 VAR_048298 Q14678:p.His210Gln SP substitution exon 1 VAR_048299 Q14678:p.Lys321Arg SP substitution exon 1 VAR_048300 Q14678:p.Ala664Val SP substitution exon 1 VAR_048301 Q14678:p.Arg667His SP substitution exon 1 VAR_048304 Q63ZY3:p.Gly118Ser SP substitution exon 1 VAR_048305 Q63ZY3:p.Met401Thr SP substitution exon 1 VAR_048306 Q5T7N3:p.Gly701Ser SP substitution exon 1 VAR_048307 Q5T7N3:p.Thr768Ala SP substitution exon 1 VAR_048308 Q5T7N3:p.Ala987Val SP substitution exon 1 VAR_048309 Q92882:p.Asn48Ser SP substitution exon 1 VAR_048310 Q9BZL4:p.Arg419Cys SP substitution exon 1 VAR_048311 O14593:p.Glu48Asp SP substitution exon 1 VAR_048312 Q9Y6H5:p.Glu235Gly SP substitution exon 1 VAR_048313 Q9BZF9:p.Ile814Thr SP substitution exon 1 VAR_048314 O43423:p.Leu105Pro SP substitution exon 1 VAR_048316 P02749:p.Val5Ala SP substitution exon 1 VAR_048317 P18085:p.Val68Ala SP substitution exon 1 VAR_048318 Q969Q4:p.Leu120Met SP substitution exon 1 VAR_048320 P36406:p.Asp480Asn SP substitution exon 1 VAR_048321 Q8N6H7:p.Pro143Arg SP substitution exon 1 VAR_048322 Q8N6H7:p.Arg339His SP substitution exon 1 VAR_048324 Q14161:p.Asn338Ser SP substitution exon 1 VAR_048326 Q8IYB5:p.Ala212Val SP substitution exon 1 VAR_048328 Q15027:p.Arg68Cys SP substitution exon 1 VAR_048329 Q15027:p.Arg533Trp SP substitution exon 1 VAR_048330 Q8WWN8:p.Asp218His SP substitution exon 1 VAR_048331 Q9UPQ3:p.Pro522Leu SP substitution exon 1 VAR_048332 Q9BSE5:p.Arg140Gln SP substitution exon 1 VAR_048334 Q9H3M7:p.Arg177Gln SP substitution exon 1 VAR_048335 Q8N5I2:p.Gly363Cys SP substitution exon 1 VAR_048336 Q02083:p.Asn107Lys SP substitution exon 1 VAR_048338 Q92484:p.His16Tyr SP substitution exon 1 VAR_048339 Q92484:p.Pro161Ser SP substitution exon 1 VAR_048341 Q96HD9:p.Arg8Gln SP substitution exon 1 VAR_048342 Q96HD9:p.Val281Met SP substitution exon 1 VAR_048343 Q96LB4:p.Glu54Gln SP substitution exon 1 VAR_048344 O95817:p.Arg71Gln SP substitution exon 1 VAR_048345 O95817:p.Cys151Arg SP substitution exon 1 VAR_048346 O95817:p.Ala405Val SP substitution exon 1 VAR_048347 O95817:p.Pro407Leu SP substitution exon 1 VAR_048348 Q16864:p.Gly24Val SP substitution exon 1 VAR_048349 P04920:p.Ser208Thr SP substitution exon 1 VAR_048350 Q9BY07:p.Ser251Asn SP substitution exon 1 VAR_048351 Q2Y0W8:p.Asp312Ala SP substitution exon 1 VAR_048352 Q2Y0W8:p.Ile898Val SP substitution exon 1 VAR_048353 Q9Y2J2:p.Ala555Thr SP substitution exon 1 VAR_048354 Q9Y2J2:p.Tyr575Cys SP substitution exon 1 VAR_048355 Q9Y2J2:p.Glu859Gln SP substitution exon 1 VAR_048356 Q9H329:p.Asn816Thr SP substitution exon 1 VAR_048357 Q9HCM4:p.His334Tyr SP substitution exon 1 VAR_048358 P35240:p.Gln344His SP substitution exon 1 VAR_048359 Q12923:p.Phe1356Leu SP substitution exon 1 VAR_048360 Q12923:p.Ser1744Pro SP substitution exon 1 VAR_048361 Q12923:p.Ile2458Val SP substitution exon 1 VAR_048362 Q9Y4F1:p.Pro8Leu SP substitution exon 1 VAR_048363 O94887:p.Lys185Asn SP substitution exon 1 VAR_048364 O94887:p.Thr260Ile SP substitution exon 1 VAR_048365 O94887:p.Val643Ile SP substitution exon 1 VAR_048366 A2A2Y4:p.Asp485Tyr SP substitution exon 1 VAR_048367 Q9P2Q2:p.Gln242His SP substitution exon 1 VAR_048368 Q9BQL6:p.Ile160Thr SP substitution exon 1 VAR_048369 P25705:p.Ala32Ser SP substitution exon 1 VAR_048370 P25705:p.Ile223Val SP substitution exon 1 VAR_048371 P06576:p.Glu274Gln SP substitution exon 1 VAR_048372 Q93084:p.Gln869His SP substitution exon 1 VAR_048373 P98194:p.Ala450Thr SP substitution exon 1 VAR_048374 P05023:p.Ser47Ile SP substitution exon 1 VAR_048375 Q13733:p.Gly83Asp SP substitution exon 1 VAR_048376 Q13733:p.Glu297Lys SP substitution exon 1 VAR_048379 P98196:p.Val1091Ile SP substitution exon 1 VAR_048380 O60312:p.Ser353Tyr SP substitution exon 1 VAR_048381 O60312:p.Glu834Lys SP substitution exon 1 VAR_048382 O60312:p.Val1198Met SP substitution exon 1 VAR_048383 O60312:p.Ala1397Val SP substitution exon 1 VAR_048384 O94823:p.Cys217Arg SP substitution exon 1 VAR_048385 Q9P241:p.Thr43Ile SP substitution exon 1 VAR_048386 Q9P241:p.Cys171Arg SP substitution exon 1 VAR_048387 Q9P241:p.Thr320Ile SP substitution exon 1 VAR_048388 Q9P241:p.Ala337Thr SP substitution exon 1 VAR_048389 Q9P241:p.Asn511Ser SP substitution exon 1 VAR_048390 Q9P241:p.Phe522Leu SP substitution exon 1 VAR_048391 Q9P241:p.Pro716Thr SP substitution exon 1 VAR_048392 Q9P241:p.Asn720Ser SP substitution exon 1 VAR_048393 Q9P241:p.Ser959Asn SP substitution exon 1 VAR_048394 Q9P241:p.Arg1183Lys SP substitution exon 1 VAR_048395 Q9P241:p.Ala1392Gly SP substitution exon 1 VAR_048396 P80723:p.Ala76Val SP substitution exon 1 VAR_048397 Q5W0U4:p.Ala261Pro SP substitution exon 1 VAR_048398 O15553:p.Val33Leu SP substitution exon 1 VAR_048399 Q14142:p.Val219Met SP substitution exon 1 VAR_048400 A8MT70:p.Pro14Thr SP substitution exon 1 VAR_048401 A8MT70:p.Lys160Asn SP substitution exon 1 VAR_048402 A8MT70:p.Lys178Arg SP substitution exon 1 VAR_048403 A8MT70:p.Ala473Gly SP substitution exon 1 VAR_048404 A8MT70:p.Ile511Thr SP substitution exon 1 VAR_048405 A8MT70:p.Glu555Lys SP substitution exon 1 VAR_048406 Q9HAY6:p.Arg267Ser SP substitution exon 1 VAR_048407 Q9HAY6:p.Ala379Val SP substitution exon 1 VAR_048408 Q9UEE9:p.Ala60Thr SP substitution exon 1 VAR_048409 Q8N1M1:p.Tyr43His SP substitution exon 1 VAR_048411 Q8NFU0:p.Tyr62Cys SP substitution exon 1 VAR_048412 Q8NFU0:p.Tyr217Ser SP substitution exon 1 VAR_048413 Q8NFU0:p.Gln331Glu SP substitution exon 1 VAR_048414 Q8NFU0:p.Arg402Leu SP substitution exon 1 VAR_048416 P11498:p.His76Leu SP substitution exon 1 VAR_048417 Q16611:p.Arg42His SP substitution exon 1 VAR_048418 Q92843:p.Gln133Arg SP substitution exon 1 VAR_048419 Q9HB09:p.Gly47Val SP substitution exon 1 VAR_048420 Q13323:p.Thr26Ile SP substitution exon 1 VAR_048421 Q9H9Y2:p.Met223Ile SP substitution exon 1 VAR_048422 Q9NQ55:p.Gln408Arg SP substitution exon 1 VAR_048423 Q9NRL2:p.Asn1366Lys SP substitution exon 1 VAR_048424 O95696:p.Arg38Gly SP substitution exon 1 VAR_048425 O95696:p.Ala321Ser SP substitution exon 1 VAR_048426 O95696:p.Ala730Thr SP substitution exon 1 VAR_048427 O60885:p.Arg1097His SP substitution exon 1 VAR_048428 Q9H0E9:p.Leu896Pro SP substitution exon 1 VAR_048429 Q9H0E9:p.Gln1198Arg SP substitution exon 1 VAR_048430 P55201:p.His1193Gln SP substitution exon 1 VAR_048431 Q9ULD4:p.Ala278Gly SP substitution exon 1 VAR_048433 P21675:p.Val1383Ile SP substitution exon 1 VAR_048434 Q8IZX4:p.Met820Thr SP substitution exon 1 VAR_048435 Q8IZX4:p.Ile1805Val SP substitution exon 1 VAR_048436 Q5XKL5:p.Val60Ile SP substitution exon 1 VAR_048437 P78543:p.Val153Met SP substitution exon 1 VAR_048438 P00451:p.Lys1289Gln SP substitution exon 1 VAR_048439 Q13895:p.Pro426Ser SP substitution exon 1 VAR_048440 Q14494:p.Asp63His SP substitution exon 1 VAR_048441 O14867:p.Ser314Pro SP substitution exon 1 VAR_048442 P18847:p.Thr38Met SP substitution exon 1 VAR_048443 Q8N1L9:p.Gly6Ser SP substitution exon 1 VAR_048444 Q8TEY5:p.Pro95Ser SP substitution exon 1 VAR_048445 Q6IMN6:p.Pro114Ser SP substitution exon 1 VAR_048446 Q6IMN6:p.Lys237Arg SP substitution exon 1 VAR_048447 Q6IMN6:p.Ser655Leu SP substitution exon 1 VAR_048448 P11509:p.Thr294Ser SP substitution exon 1 VAR_048449 Q9HB55:p.Thr27Ala SP substitution exon 1 VAR_048450 Q9HB55:p.Met145Ile SP substitution exon 1 VAR_048451 Q9HB55:p.Met275Ile SP substitution exon 1 VAR_048452 Q02928:p.Asn226Ser SP substitution exon 1 VAR_048453 P13584:p.Arg264Trp SP substitution exon 1 VAR_048454 P13584:p.Tyr329Ser SP substitution exon 1 VAR_048457 Q08477:p.His96Gln SP substitution exon 1 VAR_048458 Q08477:p.Tyr106Cys SP substitution exon 1 VAR_048459 Q9HCS2:p.Thr16Met SP substitution exon 1 VAR_048460 Q9HCS2:p.Ser522Gly SP substitution exon 1 VAR_048461 Q86W10:p.Pro393Leu SP substitution exon 1 VAR_048462 P15538:p.Thr248Ile SP substitution exon 1 VAR_048463 P15538:p.Arg404His SP substitution exon 1 VAR_048464 Q07973:p.Arg157Gln SP substitution exon 1 VAR_048465 Q07973:p.Met374Thr SP substitution exon 1 VAR_048466 Q07973:p.Leu409Ser SP substitution exon 1 VAR_048467 Q02318:p.Thr175Met SP substitution exon 1 VAR_048468 Q86SG5:p.Ala84Thr SP substitution exon 1 VAR_048469 Q9UBG3:p.Ala27Val SP substitution exon 1 VAR_048470 Q9UBG3:p.Gln374His SP substitution exon 1 VAR_048471 Q9UBG3:p.Gly480Ser SP substitution exon 1 VAR_048472 P20930:p.Arg2540Gln SP substitution exon 1 VAR_048473 P20930:p.Asp2781Tyr SP substitution exon 1 VAR_048474 P20930:p.Ser3371Phe SP substitution exon 1 VAR_048475 P20930:p.Ser3396Pro SP substitution exon 1 VAR_048476 P20930:p.His3415Tyr SP substitution exon 1 VAR_048477 P20930:p.Ser3427Tyr SP substitution exon 1 VAR_048478 P20930:p.His3437Gln SP substitution exon 1 VAR_048479 P20930:p.Arg3490Cys SP substitution exon 1 VAR_048480 P20930:p.Gln3512Arg SP substitution exon 1 VAR_048481 P20930:p.Asp3584Asn SP substitution exon 1 VAR_048482 P20930:p.Ser3695Phe SP substitution exon 1 VAR_048483 P20930:p.Thr3696Ala SP substitution exon 1 VAR_048484 P20930:p.Ser3720Pro SP substitution exon 1 VAR_048485 P20930:p.His3739Tyr SP substitution exon 1 VAR_048486 P20930:p.Ser3751Tyr SP substitution exon 1 VAR_048487 P20930:p.Gly3760Ala SP substitution exon 1 VAR_048488 P20930:p.His3761Gln SP substitution exon 1 VAR_048489 P20930:p.Arg3814Cys SP substitution exon 1 VAR_048490 P20930:p.Gly3827Trp SP substitution exon 1 VAR_048491 P20930:p.Asp3908Asn SP substitution exon 1 VAR_048492 P20930:p.Ser3935Pro SP substitution exon 1 VAR_048493 P20930:p.Ser3970Leu SP substitution exon 1 VAR_048494 Q86YZ3:p.Arg85His SP substitution exon 1 VAR_048495 Q86YZ3:p.Gly167Asp SP substitution exon 1 VAR_048496 Q86YZ3:p.Glu473Gly SP substitution exon 1 VAR_048497 Q86YZ3:p.Gly492Arg SP substitution exon 1 VAR_048498 Q86YZ3:p.Arg664Gln SP substitution exon 1 VAR_048499 Q86YZ3:p.Ser799Thr SP substitution exon 1 VAR_048500 P12830:p.Asp72Asn SP substitution exon 1 VAR_048501 P12830:p.Ile393Asn SP substitution exon 1 VAR_048502 P12830:p.Val473Ile SP substitution exon 1 VAR_048503 P19022:p.Thr454Ala SP substitution exon 1 VAR_048504 P55283:p.Ala141Val SP substitution exon 1 VAR_048505 P55289:p.Val68Met SP substitution exon 1 VAR_048506 P55289:p.Ile284Val SP substitution exon 1 VAR_048507 P55289:p.Ile475Thr SP substitution exon 1 VAR_048508 Q14126:p.Tyr89Cys SP substitution exon 1 VAR_048509 Q14126:p.Ile293Val SP substitution exon 1 VAR_048510 Q14126:p.Val515Ile SP substitution exon 1 VAR_048511 Q14126:p.Arg773Lys SP substitution exon 1 VAR_048512 Q14126:p.Met863Leu SP substitution exon 1 VAR_048513 Q14126:p.Thr903Ile SP substitution exon 1 VAR_048514 Q86SJ6:p.Ala154Thr SP substitution exon 1 VAR_048515 Q14574:p.Ala28Asp SP substitution exon 1 VAR_048516 Q14574:p.Ser78Thr SP substitution exon 1 VAR_048517 Q14574:p.Arg102Lys SP substitution exon 1 VAR_048518 Q14574:p.Lys180Gln SP substitution exon 1 VAR_048519 Q14574:p.Arg199Trp SP substitution exon 1 VAR_048520 Q14574:p.Asn239Ser SP substitution exon 1 VAR_048521 Q9Y5I3:p.Arg360Gly SP substitution exon 1 VAR_048522 Q9Y5I3:p.Cys759Phe SP substitution exon 1 VAR_048523 Q9Y5H9:p.Pro764Leu SP substitution exon 1 VAR_048524 Q9Y5H8:p.Ile289Thr SP substitution exon 1 VAR_048525 Q9Y5H8:p.Ser440Ile SP substitution exon 1 VAR_048526 Q9Y5H7:p.Ala691Val SP substitution exon 1 VAR_048527 Q9UN72:p.Arg138Lys SP substitution exon 1 VAR_048528 Q9UN72:p.Ala663Gly SP substitution exon 1 VAR_048529 Q9Y5H6:p.Pro269Arg SP substitution exon 1 VAR_048530 Q9Y5H5:p.Ser28Arg SP substitution exon 1 VAR_048531 Q9Y5H5:p.Lys138Arg SP substitution exon 1 VAR_048532 Q9Y5H5:p.Leu336Val SP substitution exon 1 VAR_048533 Q9Y5H5:p.Gly430Arg SP substitution exon 1 VAR_048534 Q9Y5H5:p.Lys764Thr SP substitution exon 1 VAR_048535 Q9Y5I2:p.Ser439Arg SP substitution exon 1 VAR_048536 Q9Y5I2:p.Val585Gly SP substitution exon 1 VAR_048537 Q9Y5I2:p.Thr639Ala SP substitution exon 1 VAR_048538 Q9Y5I1:p.Ser199Tyr SP substitution exon 1 VAR_048539 Q9Y5I1:p.Trp418Ser SP substitution exon 1 VAR_048540 Q9H158:p.Leu498Val SP substitution exon 1 VAR_048541 Q9Y5F3:p.Phe385Leu SP substitution exon 1 VAR_048542 Q9Y5F3:p.Leu390Phe SP substitution exon 1 VAR_048543 Q9Y5F3:p.Ala524Val SP substitution exon 1 VAR_048544 Q9Y5F3:p.Thr611Ile SP substitution exon 1 VAR_048545 Q9Y5F3:p.Ile712Thr SP substitution exon 1 VAR_048546 Q9Y5F3:p.Lys719Ile SP substitution exon 1 VAR_048547 Q9Y5F3:p.Phe778Leu SP substitution exon 1 VAR_048548 Q9Y5E5:p.Lys168Arg SP substitution exon 1 VAR_048549 Q9Y5E5:p.Pro255Leu SP substitution exon 1 VAR_048550 Q9Y5E5:p.Pro255Ser SP substitution exon 1 VAR_048551 Q9Y5E5:p.Thr553Ala SP substitution exon 1 VAR_048552 Q9Y5E4:p.Ser720Pro SP substitution exon 1 VAR_048553 Q9Y5F2:p.Arg7His SP substitution exon 1 VAR_048555 Q9Y5H4:p.His282Gln SP substitution exon 1 VAR_048556 Q9Y5H1:p.Gln5Arg SP substitution exon 1 VAR_048557 Q9Y5G9:p.Ala150Thr SP substitution exon 1 VAR_048558 Q9Y5G9:p.Arg641Lys SP substitution exon 1 VAR_048559 Q9Y5G9:p.Asp683His SP substitution exon 1 VAR_048560 Q9Y5G7:p.Arg248Ser SP substitution exon 1 VAR_048561 Q9Y5G6:p.Glu188Gly SP substitution exon 1 VAR_048562 Q9Y5G6:p.Leu212Phe SP substitution exon 1 VAR_048563 Q9Y5G6:p.Thr239Met SP substitution exon 1 VAR_048564 Q9Y5G5:p.Leu16Arg SP substitution exon 1 VAR_048565 Q9Y5G4:p.Leu791Phe SP substitution exon 1 VAR_048566 Q9Y5H3:p.Ile89Val SP substitution exon 1 VAR_048567 Q9Y5H3:p.Ser796Pro SP substitution exon 1 VAR_048568 Q9Y5G2:p.Pro26Arg SP substitution exon 1 VAR_048569 Q9Y5G1:p.Phe20Tyr SP substitution exon 1 VAR_048570 Q9Y5G1:p.Asn389Lys SP substitution exon 1 VAR_048571 Q9Y5G0:p.Gly188Ser SP substitution exon 1 VAR_048572 Q9Y5F9:p.Ser775Ala SP substitution exon 1 VAR_048573 Q9Y5F8:p.Val405Leu SP substitution exon 1 VAR_048574 Q9Y5F6:p.Gly275Ser SP substitution exon 1 VAR_048575 Q9BZA7:p.Arg1018Gln SP substitution exon 1 VAR_048576 Q9BZA8:p.Ala1320Thr SP substitution exon 1 VAR_048577 Q96JQ0:p.Thr1949Met SP substitution exon 1 VAR_048578 Q96JQ0:p.Val2331Ile SP substitution exon 1 VAR_048579 Q96JQ0:p.Arg2359Cys SP substitution exon 1 VAR_048580 Q6V0I7:p.Gln453Leu SP substitution exon 1 VAR_048581 Q6V0I7:p.Ala807Val SP substitution exon 1 VAR_048582 O94985:p.Ala332Thr SP substitution exon 1 VAR_048583 Q9BQT9:p.Ser209Gly SP substitution exon 1 VAR_048584 P06881:p.Asn57Asp SP substitution exon 1 VAR_048585 P62158:p.Met73Thr SP substitution exon 1 VAR_048586 Q96GE6:p.Arg28Cys SP substitution exon 1 VAR_048587 Q96GE6:p.Thr154Lys SP substitution exon 1 VAR_048588 Q8TD86:p.Trp60Arg SP substitution exon 1 VAR_048589 Q96L12:p.Asp284Asn SP substitution exon 1 VAR_048590 O14967:p.Arg352Trp SP substitution exon 1 VAR_048591 Q9UHJ6:p.Asp421Glu SP substitution exon 1 VAR_048592 Q9UHJ6:p.Leu434Met SP substitution exon 1 VAR_048593 P15085:p.Ala208Thr SP substitution exon 1 VAR_048594 Q9UI42:p.Leu27Phe SP substitution exon 1 VAR_048595 Q9UI42:p.Arg183Leu SP substitution exon 1 VAR_048596 Q8WXQ8:p.Ser378Gly SP substitution exon 1 VAR_048597 Q8N4T0:p.Asn249Ser SP substitution exon 1 VAR_048598 P15086:p.Asp208Asn SP substitution exon 1 VAR_048599 P16870:p.Trp235Arg SP substitution exon 1 VAR_048600 P14384:p.Arg24His SP substitution exon 1 VAR_048601 P14384:p.Val133Ile SP substitution exon 1 VAR_048602 P15088:p.Ala81Ser SP substitution exon 1 VAR_048603 Q8N436:p.Gln750Arg SP substitution exon 1 VAR_048604 Q96MI9:p.Pro417Leu SP substitution exon 1 VAR_048605 Q96MI9:p.Ser435Pro SP substitution exon 1 VAR_048606 Q9Y2G2:p.Ile68Val SP substitution exon 1 VAR_048607 Q9H257:p.Ser12Asn SP substitution exon 1 VAR_048608 Q9BXL6:p.Val585Ile SP substitution exon 1 VAR_048609 Q7Z434:p.Cys79Phe SP substitution exon 1 VAR_048610 Q7Z434:p.Gln93Glu SP substitution exon 1 VAR_048611 Q7Z434:p.Gln198Lys SP substitution exon 1 VAR_048612 Q9UKG9:p.Arg94His SP substitution exon 1 VAR_048613 Q9UKG9:p.Val474Leu SP substitution exon 1 VAR_048614 P47710:p.Ala117Val SP substitution exon 1 VAR_048615 P29466:p.Arg15His SP substitution exon 1 VAR_048616 P42574:p.His22Arg SP substitution exon 1 VAR_048617 P55210:p.Asp4Glu SP substitution exon 1 VAR_048618 P55210:p.Asp255Glu SP substitution exon 1 VAR_048619 O15519:p.Leu203Ile SP substitution exon 1 VAR_048620 Q9UDY8:p.Ile641Val SP substitution exon 1 VAR_048621 Q8WTT2:p.Pro444Arg SP substitution exon 1 VAR_048622 Q8WTT2:p.Arg504Ile SP substitution exon 1 VAR_048623 Q8WTT2:p.Thr655Ser SP substitution exon 1 VAR_048624 Q8WTT2:p.Ala695Thr SP substitution exon 1 VAR_048631 O15020:p.Glu835Lys SP substitution exon 1 VAR_048632 Q9H254:p.Gly1331Ser SP substitution exon 1 VAR_048633 Q9NP86:p.Leu80Pro SP substitution exon 1 VAR_048634 Q9NP86:p.Glu140Lys SP substitution exon 1 VAR_048635 Q9NP86:p.Ile147Ser SP substitution exon 1 VAR_048636 Q99828:p.Ile106Thr SP substitution exon 1 VAR_048637 A0PJX0:p.His181Arg SP substitution exon 1 VAR_048638 Q13938:p.Arg39Gly SP substitution exon 1 VAR_048639 Q7Z6G3:p.Gly233Ser SP substitution exon 1 VAR_048640 Q7Z6G3:p.Thr235Ser SP substitution exon 1 VAR_048643 Q96P71:p.Pro254Leu SP substitution exon 1 VAR_048644 A4FU69:p.Ala1145Asp SP substitution exon 1 VAR_048645 A4FU69:p.Val1252Ala SP substitution exon 1 VAR_048646 A4FU69:p.Arg1274Thr SP substitution exon 1 VAR_048647 A4FU69:p.Asp1488Tyr SP substitution exon 1 VAR_048648 Q5THR3:p.Val166Ala SP substitution exon 1 VAR_048649 Q5THR3:p.Arg199Gly SP substitution exon 1 VAR_048650 Q5THR3:p.Thr351Ala SP substitution exon 1 VAR_048651 Q5THR3:p.Ser384Ala SP substitution exon 1 VAR_048652 Q5THR3:p.His400Tyr SP substitution exon 1 VAR_048653 Q5THR3:p.Thr680Ala SP substitution exon 1 VAR_048654 Q5THR3:p.Asp780Asn SP substitution exon 1 VAR_048655 Q5THR3:p.Arg800Trp SP substitution exon 1 VAR_048656 Q5THR3:p.Ala1059Val SP substitution exon 1 VAR_048657 P28676:p.Ser80Ala SP substitution exon 1 VAR_048659 Q9BRK5:p.Asn50Asp SP substitution exon 1 VAR_048660 Q14651:p.Ile146Met SP substitution exon 1 VAR_048661 Q14651:p.Ser216Leu SP substitution exon 1 VAR_048662 P84074:p.Glu21Asp SP substitution exon 1 VAR_048663 Q9Y2W7:p.Ala119Val SP substitution exon 1 VAR_048664 O43745:p.Arg127Pro SP substitution exon 1 VAR_048666 Q5JVL4:p.Glu357Lys SP substitution exon 1 VAR_048667 Q6NXP0:p.Arg215Gly SP substitution exon 1 VAR_048668 Q6NXP0:p.Pro541Ser SP substitution exon 1 VAR_048669 O75071:p.Leu337Pro SP substitution exon 1 VAR_048670 Q01995:p.Asn182Ser SP substitution exon 1 VAR_048671 Q5VT06:p.Thr1445Ala SP substitution exon 1 VAR_048672 P30622:p.Arg780Trp SP substitution exon 1 VAR_048673 P30622:p.Ser941Pro SP substitution exon 1 VAR_048674 P30622:p.Ala1224Ser SP substitution exon 1 VAR_048677 Q14203:p.Leu287Met SP substitution exon 1 VAR_048678 Q14203:p.Arg495Gln SP substitution exon 1 VAR_048679 P00915:p.Ala143Val SP substitution exon 1 VAR_048680 P22748:p.Val237Leu SP substitution exon 1 VAR_048681 Q9H3G5:p.Ser11Leu SP substitution exon 1 VAR_048682 Q9H3G5:p.Arg25His SP substitution exon 1 VAR_048683 Q9H3G5:p.Arg398His SP substitution exon 1 VAR_048684 Q9HB40:p.Leu3Val SP substitution exon 1 VAR_048685 Q9HB40:p.Val241Ile SP substitution exon 1 VAR_048686 P38936:p.Pro4Leu SP substitution exon 1 VAR_048687 P38936:p.Phe63Leu SP substitution exon 1 VAR_048689 Q96H22:p.Gln223Arg SP substitution exon 1 VAR_048690 Q96H22:p.Glu288Lys SP substitution exon 1 VAR_048691 Q13352:p.Ile30Val SP substitution exon 1 VAR_048692 Q71F23:p.Gly16Arg SP substitution exon 1 VAR_048693 Q71F23:p.Ala279Thr SP substitution exon 1 VAR_048694 P51795:p.Met142Ile SP substitution exon 1 VAR_048695 P51800:p.Arg8His SP substitution exon 1 VAR_048696 Q9Y5Y9:p.Gly590Arg SP substitution exon 1 VAR_048697 Q9UI33:p.Val909Ile SP substitution exon 1 VAR_048698 Q96Q11:p.Pro23Leu SP substitution exon 1 VAR_048699 Q9Y6H1:p.His78Asn SP substitution exon 1 VAR_048700 O14625:p.Asn55Ser SP substitution exon 1 VAR_048701 P10147:p.Glu78Asp SP substitution exon 1 VAR_048702 P13236:p.Met12Val SP substitution exon 1 VAR_048703 P13236:p.Pro20Leu SP substitution exon 1 VAR_048704 P80075:p.Ala14Val SP substitution exon 1 VAR_048705 P51671:p.Lys86Thr SP substitution exon 1 VAR_048706 Q99616:p.Asn29Ser SP substitution exon 1 VAR_048707 Q16627:p.Lys61Glu SP substitution exon 1 VAR_048708 Q92583:p.Lys5Asn SP substitution exon 1 VAR_048709 Q92583:p.Val67Met SP substitution exon 1 VAR_048710 O00175:p.Ser31Phe SP substitution exon 1 VAR_048711 O00175:p.Ala102Thr SP substitution exon 1 VAR_048712 O00175:p.Gln110Glu SP substitution exon 1 VAR_048713 Q9UBD3:p.His28Asp SP substitution exon 1 VAR_048714 P78423:p.Ala240Val SP substitution exon 1 VAR_048715 Q8N6G5:p.Glu215Lys SP substitution exon 1 VAR_048716 Q8N6G5:p.Pro479Ser SP substitution exon 1 VAR_048719 O75829:p.Phe116Leu SP substitution exon 1 VAR_048721 P31941:p.Thr19Ala SP substitution exon 1 VAR_048722 Q9UH17:p.Arg351His SP substitution exon 1 VAR_048723 Q9HC16:p.Arg256His SP substitution exon 1 VAR_048724 Q8WW27:p.Asp300Gly SP substitution exon 1 VAR_048725 P55265:p.Arg100Gly SP substitution exon 1 VAR_048726 Q9NS39:p.Ala626Thr SP substitution exon 1 VAR_048727 Q9H2X0:p.Pro94Ser SP substitution exon 1 VAR_048728 Q12873:p.Ala3Val SP substitution exon 1 VAR_048729 Q8TDI0:p.Ser1253Ile SP substitution exon 1 VAR_048730 Q8TDI0:p.Ser1539Pro SP substitution exon 1 VAR_048731 Q9P2D1:p.Met340Val SP substitution exon 1 VAR_048732 Q8N5Y2:p.Lys199Gln SP substitution exon 1 VAR_048733 Q8N5Y2:p.Val251Ile SP substitution exon 1 VAR_048736 Q92903:p.Leu99Phe SP substitution exon 1 VAR_048737 O76075:p.Lys277Arg SP substitution exon 1 VAR_048738 O60543:p.Val115Phe SP substitution exon 1 VAR_048739 P56748:p.Thr25Ala SP substitution exon 1 VAR_048740 Q9H078:p.Arg295Thr SP substitution exon 1 VAR_048741 Q00975:p.Asn167Lys SP substitution exon 1 VAR_048742 Q00975:p.Glu1436Lys SP substitution exon 1 VAR_048743 Q00975:p.Glu1500Lys SP substitution exon 1 VAR_048745 Q9P0X4:p.Thr1513Met SP substitution exon 1 VAR_048746 Q9P1Z3:p.Pro630Leu SP substitution exon 1 VAR_048747 Q13303:p.Glu88Lys SP substitution exon 1 VAR_048748 Q16280:p.Asp118His SP substitution exon 1 VAR_048749 Q16280:p.Glu663Lys SP substitution exon 1 VAR_048750 Q9NZN8:p.Ala460Thr SP substitution exon 1 VAR_048751 Q9UFF9:p.Leu32Pro SP substitution exon 1 VAR_048752 Q96GM8:p.Arg341His SP substitution exon 1 VAR_048753 P27352:p.Gly65Arg SP substitution exon 1 VAR_048754 Q9HAK2:p.Gly559Ser SP substitution exon 1 VAR_048755 P13521:p.Ala196Val SP substitution exon 1 VAR_048756 Q8WTW3:p.Tyr744Cys SP substitution exon 1 VAR_048757 Q14746:p.Arg288His SP substitution exon 1 VAR_048758 Q14746:p.Val589Ile SP substitution exon 1 VAR_048759 Q9Y2V7:p.Ala10Thr SP substitution exon 1 VAR_048760 Q9Y2V7:p.Cys32Ser SP substitution exon 1 VAR_048761 Q9Y2V7:p.His300Tyr SP substitution exon 1 VAR_048762 P83436:p.Thr605Met SP substitution exon 1 VAR_048763 P12109:p.Arg439Gln SP substitution exon 1 VAR_048764 P12109:p.Arg850His SP substitution exon 1 VAR_048765 Q02388:p.Val547Phe SP substitution exon 1 VAR_048766 Q02388:p.Arg1120Lys SP substitution exon 1 VAR_048767 Q03692:p.Gly98Arg SP substitution exon 1 VAR_048768 Q99715:p.Ala461Pro SP substitution exon 1 VAR_048769 Q99715:p.Ile1738Thr SP substitution exon 1 VAR_048770 Q99715:p.Glu2160Val SP substitution exon 1 VAR_048771 Q99715:p.Ile2596Val SP substitution exon 1 VAR_048772 Q05707:p.Asn563His SP substitution exon 1 VAR_048773 Q05707:p.Pro855Leu SP substitution exon 1 VAR_048774 Q05707:p.Val922Ile SP substitution exon 1 VAR_048775 Q05707:p.Val1342Leu SP substitution exon 1 VAR_048776 P39059:p.Gly504Val SP substitution exon 1 VAR_048777 Q07092:p.Gln27His SP substitution exon 1 VAR_048778 Q07092:p.Arg418Gln SP substitution exon 1 VAR_048779 Q07092:p.Gly745Ser SP substitution exon 1 VAR_048780 Q07092:p.Pro909Leu SP substitution exon 1 VAR_048781 Q9UMD9:p.Thr4Ala SP substitution exon 1 VAR_048782 Q14993:p.Gly406Glu SP substitution exon 1 VAR_048783 Q14993:p.Glu496Gly SP substitution exon 1 VAR_048784 Q8IZC6:p.Val89Ile SP substitution exon 1 VAR_048785 Q8IZC6:p.Gln120Arg SP substitution exon 1 VAR_048786 Q8IZC6:p.Ala265Thr SP substitution exon 1 VAR_048787 Q8IZC6:p.Arg349Cys SP substitution exon 1 VAR_048788 Q8IZC6:p.Ala422Thr SP substitution exon 1 VAR_048789 Q8IZC6:p.Ile537Thr SP substitution exon 1 VAR_048790 Q8IZC6:p.Ile611Phe SP substitution exon 1 VAR_048791 Q8IZC6:p.Pro720Arg SP substitution exon 1 VAR_048792 Q8IZC6:p.Pro1116Gln SP substitution exon 1 VAR_048793 Q8IZC6:p.Arg1348Gln SP substitution exon 1 VAR_048794 Q8IZC6:p.Arg1354Gln SP substitution exon 1 VAR_048795 Q8IZC6:p.Met1808Val SP substitution exon 1 VAR_048796 P08572:p.Arg517Lys SP substitution exon 1 VAR_048797 P08572:p.Gly683Ala SP substitution exon 1 VAR_048799 P05997:p.Pro460Ser SP substitution exon 1 VAR_048800 P05997:p.Arg956Pro SP substitution exon 1 VAR_048801 P12110:p.Asp227Asn SP substitution exon 1 VAR_048802 P12110:p.Gly935Arg SP substitution exon 1 VAR_048803 P12110:p.Ile1015Leu SP substitution exon 1 VAR_048808 Q14050:p.Pro94Ser SP substitution exon 1 VAR_048809 Q9Y215:p.Ser312Gly SP substitution exon 1 VAR_048810 P09603:p.Ser341Asn SP substitution exon 1 VAR_048811 P09603:p.Phe489Ser SP substitution exon 1 VAR_048812 Q9GZQ3:p.Gln69His SP substitution exon 1 VAR_048813 Q7Z4G1:p.His52Asn SP substitution exon 1 VAR_048814 Q9NX08:p.Ala17Pro SP substitution exon 1 VAR_048815 P04003:p.Ala60Val SP substitution exon 1 VAR_048817 Q02985:p.His71Tyr SP substitution exon 1 VAR_048818 Q9BXR6:p.Pro46Ser SP substitution exon 1 VAR_048819 Q9BXR6:p.Arg356His SP substitution exon 1 VAR_048820 Q9BXR6:p.Leu521Ile SP substitution exon 1 VAR_048821 Q9BXR6:p.Leu529Arg SP substitution exon 1 VAR_048822 P01031:p.Leu354Met SP substitution exon 1 VAR_048825 O95452:p.Asn159Ser SP substitution exon 1 VAR_048827 P36551:p.Arg352Cys SP substitution exon 1 VAR_048828 Q96MF6:p.Pro231Ser SP substitution exon 1 VAR_048829 Q9Y3A0:p.Arg20Gln SP substitution exon 1 VAR_048830 Q9P003:p.Ala3Gly SP substitution exon 1 VAR_048831 Q9Y6N1:p.Pro74Leu SP substitution exon 1 VAR_048832 P16562:p.Asn131Ser SP substitution exon 1 VAR_048833 P48060:p.Arg211Gln SP substitution exon 1 VAR_048834 Q9H3Y0:p.Asp68Asn SP substitution exon 1 VAR_048837 Q8WWI5:p.Ser644Ala SP substitution exon 1 VAR_048838 P09172:p.Gly12Ser SP substitution exon 1 VAR_048839 Q13618:p.Arg184Ser SP substitution exon 1 VAR_048841 Q14999:p.Ser616Gly SP substitution exon 1 VAR_048842 Q14999:p.Arg852Gln SP substitution exon 1 VAR_048848 O75131:p.Glu252Asp SP substitution exon 1 VAR_048849 Q9UBL6:p.Lys507Glu SP substitution exon 1 VAR_048850 P99999:p.Lys56Arg SP substitution exon 1 VAR_048851 P01040:p.Thr96Met SP substitution exon 1 VAR_048852 P01036:p.Asp36Asn SP substitution exon 1 VAR_048853 P01042:p.Asp430Glu SP substitution exon 1 VAR_048854 P01042:p.Ile581Thr SP substitution exon 1 VAR_048855 P01042:p.Gly642Ala SP substitution exon 1 VAR_048856 P04196:p.Ser79Leu SP substitution exon 1 VAR_048857 Q3SYC2:p.Pro196His SP substitution exon 1 VAR_048858 Q9Y6T7:p.Gly789Ser SP substitution exon 1 VAR_048859 Q5KSL6:p.Asp1118Asn SP substitution exon 1 VAR_048861 P12838:p.Ala8Pro SP substitution exon 1 VAR_048862 Q8NET1:p.Arg36Trp SP substitution exon 1 VAR_048863 Q30KQ4:p.Gln19Leu SP substitution exon 1 VAR_048864 Q9H1M4:p.Gly31Arg SP substitution exon 1 VAR_048865 Q9H1M4:p.Arg71Ser SP substitution exon 1 VAR_048866 Q7Z7B8:p.Lys27Asn SP substitution exon 1 VAR_048867 P49448:p.Ser498Ala SP substitution exon 1 VAR_048868 Q9UQ35:p.Thr856Arg SP substitution exon 1 VAR_048869 P49184:p.Val122Ile SP substitution exon 1 VAR_048870 O00115:p.Arg39Ile SP substitution exon 1 VAR_048871 O00115:p.His204Arg SP substitution exon 1 VAR_048872 Q8WZ79:p.Lys47Arg SP substitution exon 1 VAR_048873 P19113:p.Thr31Met SP substitution exon 1 VAR_048875 O95470:p.Val21Leu SP substitution exon 1 VAR_048876 Q9H772:p.Val131Ile SP substitution exon 1 VAR_048877 P09884:p.Tyr740His SP substitution exon 1 VAR_048878 P28340:p.Arg5Trp SP substitution exon 1 VAR_048879 P28340:p.Gly21Cys SP substitution exon 1 VAR_048880 P28340:p.Pro347Leu SP substitution exon 1 VAR_048881 Q07864:p.Glu2140Lys SP substitution exon 1 VAR_048882 Q07864:p.Arg2159Cys SP substitution exon 1 VAR_048883 O60673:p.Ser633Gly SP substitution exon 1 VAR_048884 O60673:p.Ser1220Leu SP substitution exon 1 VAR_048885 O60673:p.Thr1284Pro SP substitution exon 1 VAR_048886 Q9UBT6:p.Ser423Arg SP substitution exon 1 VAR_048887 Q9UBT6:p.Ser635Asn SP substitution exon 1 VAR_048888 Q07507:p.Val201Ile SP substitution exon 1 VAR_048889 Q96IM9:p.Gly143Ser SP substitution exon 1 VAR_048890 Q8NDY3:p.Ala7Val SP substitution exon 1 VAR_048892 Q96SD1:p.Pro171Arg SP substitution exon 1 VAR_048893 Q96SD1:p.His243Arg SP substitution exon 1 VAR_048894 Q96SD1:p.Ser320Cys SP substitution exon 1 VAR_048895 Q8TDB6:p.Arg425Lys SP substitution exon 1 VAR_048897 Q96Q80:p.Phe149Leu SP substitution exon 1 VAR_048898 Q15800:p.Asn124Ser SP substitution exon 1 VAR_048899 O95992:p.Leu133Pro SP substitution exon 1 VAR_048900 Q96IV6:p.Arg133His SP substitution exon 1 VAR_048901 P00352:p.Asn121Ser SP substitution exon 1 VAR_048902 P00352:p.Gly125Arg SP substitution exon 1 VAR_048903 P30038:p.Thr473Ala SP substitution exon 1 VAR_048904 Q05193:p.Asp744Asn SP substitution exon 1 VAR_048905 O14576:p.Asn582Thr SP substitution exon 1 VAR_048906 Q12906:p.Ala501Ser SP substitution exon 1 VAR_048907 Q01094:p.Gly200Ser SP substitution exon 1 VAR_048908 P40939:p.Gln358Lys SP substitution exon 1 VAR_048909 P20042:p.Glu177Asp SP substitution exon 1 VAR_048910 P25686:p.Gly270Arg SP substitution exon 1 VAR_048911 Q9UBS3:p.Arg136His SP substitution exon 1 VAR_048912 Q8IXB1:p.Leu347Ile SP substitution exon 1 VAR_048913 Q9UKB3:p.Met124Ile SP substitution exon 1 VAR_048914 Q9UKB3:p.Cys129Trp SP substitution exon 1 VAR_048915 Q96LL9:p.Phe167Leu SP substitution exon 1 VAR_048916 Q8IWL3:p.Tyr73Cys SP substitution exon 1 VAR_048917 Q8IWL3:p.Ile163Met SP substitution exon 1 VAR_048918 Q9UI10:p.Ala93Val SP substitution exon 1 VAR_048919 Q13144:p.Asn200Thr SP substitution exon 1 VAR_048920 Q9NR50:p.Asp288Glu SP substitution exon 1 VAR_048921 Q14152:p.Lys694Asn SP substitution exon 1 VAR_048922 Q14152:p.Asp993Glu SP substitution exon 1 VAR_048923 P78344:p.Leu236Met SP substitution exon 1 VAR_048924 O43432:p.Gln378Arg SP substitution exon 1 VAR_048925 O43432:p.Asp1185Glu SP substitution exon 1 VAR_048926 Q6NUK4:p.Gln171Arg SP substitution exon 1 VAR_048927 Q96HR9:p.Ala150Asp SP substitution exon 1 VAR_048929 P50552:p.Ala104Thr SP substitution exon 1 VAR_048930 P50552:p.Gln140His SP substitution exon 1 VAR_048931 Q8NCE0:p.Arg41His SP substitution exon 1 VAR_048932 Q8NCE0:p.Arg126His SP substitution exon 1 VAR_048934 Q8N3Z3:p.Gln242His SP substitution exon 1 VAR_048935 P01210:p.Thr83Asn SP substitution exon 1 VAR_048936 P06733:p.Pro325Gln SP substitution exon 1 VAR_048937 P52797:p.Val190Met SP substitution exon 1 VAR_048938 O95620:p.Thr178Ala SP substitution exon 1 VAR_048939 Q9Y282:p.Ile113Leu SP substitution exon 1 VAR_048940 Q9BRG1:p.Ile76Val SP substitution exon 1 VAR_048941 Q9NZC4:p.Ala96Val SP substitution exon 1 VAR_048942 P32519:p.Asn58Ser SP substitution exon 1 VAR_048943 P32519:p.Thr343Ser SP substitution exon 1 VAR_048944 P32519:p.Thr403Ile SP substitution exon 1 VAR_048945 P78545:p.Gln317Lys SP substitution exon 1 VAR_048946 P41970:p.Pro169Leu SP substitution exon 1 VAR_048947 P50548:p.Arg205His SP substitution exon 1 VAR_048948 P50549:p.Ser100Gly SP substitution exon 1 VAR_048949 Q6ZN32:p.Arg151Trp SP substitution exon 1 VAR_048950 P43268:p.Arg437Cys SP substitution exon 1 VAR_048951 P41161:p.Lys348Arg SP substitution exon 1 VAR_048952 Q9Y603:p.His138Tyr SP substitution exon 1 VAR_048955 O95238:p.Ala57Thr SP substitution exon 1 VAR_048956 Q96KP1:p.Asn195Thr SP substitution exon 1 VAR_048957 O00471:p.Glu10Asp SP substitution exon 1 VAR_048958 Q9C0E2:p.Asn149Ser SP substitution exon 1 VAR_048959 Q9C0E2:p.Thr451Ala SP substitution exon 1 VAR_048960 Q9HAV4:p.Ser241Asn SP substitution exon 1 VAR_048961 Q96QU8:p.Val1029Leu SP substitution exon 1 VAR_048962 O43592:p.Glu716Asp SP substitution exon 1 VAR_048963 Q9Y450:p.Gly440Ser SP substitution exon 1 VAR_048964 O00167:p.Pro83Ser SP substitution exon 1 VAR_048965 O00167:p.Thr238Ala SP substitution exon 1 VAR_048966 O00468:p.Val1666Ile SP substitution exon 1 VAR_048967 O75882:p.Asp303Ala SP substitution exon 1 VAR_048968 O75882:p.Ile426Thr SP substitution exon 1 VAR_048969 O75882:p.Arg1152Lys SP substitution exon 1 VAR_048970 O75882:p.Val1226Ile SP substitution exon 1 VAR_048971 Q6UXH8:p.Val193Gly SP substitution exon 1 VAR_048972 Q9NQ79:p.Ala253Thr SP substitution exon 1 VAR_048973 Q9NQ79:p.Val569Met SP substitution exon 1 VAR_048974 Q5IJ48:p.Thr90Asn SP substitution exon 1 VAR_048975 P13385:p.Arg111Gly SP substitution exon 1 VAR_048976 O00548:p.Val444Met SP substitution exon 1 VAR_048977 Q6UY11:p.Gly301Arg SP substitution exon 1 VAR_048978 Q5VY43:p.Ser234Pro SP substitution exon 1 VAR_048981 Q9UHF1:p.Pro183Ser SP substitution exon 1 VAR_048982 Q9UHF1:p.Ala186Gly SP substitution exon 1 VAR_048984 Q9ULI3:p.Gln145Arg SP substitution exon 1 VAR_048985 P78504:p.Val146Ile SP substitution exon 1 VAR_048986 Q9Y219:p.Asp538Asn SP substitution exon 1 VAR_048987 Q99435:p.Val5Ile SP substitution exon 1 VAR_048988 Q99435:p.Asn347Asp SP substitution exon 1 VAR_048990 P46531:p.Arg879Trp SP substitution exon 1 VAR_048994 Q8IX30:p.Ser410Leu SP substitution exon 1 VAR_048995 Q8WWQ8:p.Ile110Val SP substitution exon 1 VAR_048996 Q8WWQ8:p.Glu306Lys SP substitution exon 1 VAR_048997 Q8WWQ8:p.Arg787Gln SP substitution exon 1 VAR_048998 Q8WWQ8:p.Arg881His SP substitution exon 1 VAR_048999 Q8WWQ8:p.Asn1736Thr SP substitution exon 1 VAR_049000 Q8WWQ8:p.Pro2039Thr SP substitution exon 1 VAR_049001 Q8WWQ8:p.Leu2401Val SP substitution exon 1 VAR_049002 Q8WWQ8:p.Tyr2519Ser SP substitution exon 1 VAR_049003 O75093:p.Pro824Leu SP substitution exon 1 VAR_049004 O75094:p.Val371Ala SP substitution exon 1 VAR_049005 O75094:p.Arg810Gln SP substitution exon 1 VAR_049006 O75094:p.Pro1064Ala SP substitution exon 1 VAR_049007 Q9UQP3:p.Arg79Gly SP substitution exon 1 VAR_049008 Q9UQP3:p.Arg440Ser SP substitution exon 1 VAR_049009 Q9UQP3:p.Asp1135Glu SP substitution exon 1 VAR_049010 Q9UQP3:p.Ala1156Val SP substitution exon 1 VAR_049011 P07204:p.Ala162Pro SP substitution exon 1 VAR_049012 O15540:p.Thr61Met SP substitution exon 1 VAR_049013 P82980:p.Asp19Asn SP substitution exon 1 VAR_049014 Q6P587:p.Asp110Asn SP substitution exon 1 VAR_049015 Q96GK7:p.Met198Thr SP substitution exon 1 VAR_049016 O95990:p.Ala89Ser SP substitution exon 1 VAR_049017 O95990:p.Glu141Gln SP substitution exon 1 VAR_049018 Q96EY5:p.Cys106Tyr SP substitution exon 1 VAR_049019 O94988:p.Val769Ile SP substitution exon 1 VAR_049020 Q9NYF5:p.Met802Val SP substitution exon 1 VAR_049021 Q9ULQ0:p.Arg383Gln SP substitution exon 1 VAR_049022 Q9C0B6:p.Tyr71Cys SP substitution exon 1 VAR_049023 Q9C0B6:p.Leu390Val SP substitution exon 1 VAR_049024 Q969Y0:p.Thr507Ile SP substitution exon 1 VAR_049025 Q6UWF7:p.Tyr398His SP substitution exon 1 VAR_049026 Q6UWF7:p.Ala451Val SP substitution exon 1 VAR_049027 Q9NP50:p.Arg117His SP substitution exon 1 VAR_049028 Q96DB5:p.Lys52Asn SP substitution exon 1 VAR_049029 Q96TC7:p.Gln33His SP substitution exon 1 VAR_049030 Q17RN3:p.Thr240Lys SP substitution exon 1 VAR_049031 Q8WV35:p.Arg75Gln SP substitution exon 1 VAR_049032 Q8WV35:p.Gly117Ser SP substitution exon 1 VAR_049033 Q8N1E6:p.Leu220Val SP substitution exon 1 VAR_049036 Q9UK22:p.Lys118Thr SP substitution exon 1 VAR_049037 Q9UK99:p.Val221Ile SP substitution exon 1 VAR_049038 Q9UKT4:p.Leu164Phe SP substitution exon 1 VAR_049039 Q9NRD1:p.Arg60Gln SP substitution exon 1 VAR_049041 Q8IX29:p.Thr255Asn SP substitution exon 1 VAR_049042 O75426:p.Arg302His SP substitution exon 1 VAR_049043 Q8TCJ0:p.Asn36Asp SP substitution exon 1 VAR_049044 Q8TB52:p.Ser382Cys SP substitution exon 1 VAR_049045 Q969P5:p.Asn56Ser SP substitution exon 1 VAR_049046 Q969P5:p.Gly89Ala SP substitution exon 1 VAR_049047 Q9NWN3:p.Val432Ala SP substitution exon 1 VAR_049048 Q9NWN3:p.Gly704Val SP substitution exon 1 VAR_049049 Q6PIJ6:p.Ala894Thr SP substitution exon 1 VAR_049050 Q8N4B4:p.Tyr166Cys SP substitution exon 1 VAR_049051 Q8N4B4:p.Ser221Thr SP substitution exon 1 VAR_049052 Q5MNV8:p.Gln209Arg SP substitution exon 1 VAR_049053 Q9BSG5:p.Gly198Ala SP substitution exon 1 VAR_049054 Q9GZU7:p.Ala56Thr SP substitution exon 1 VAR_049055 O75923:p.Ile834Val SP substitution exon 1 VAR_049056 O75923:p.Ala1072Pro SP substitution exon 1 VAR_049057 Q9HC10:p.Val1886Ala SP substitution exon 1 VAR_049058 Q9NZM1:p.Val1136Ile SP substitution exon 1 VAR_049059 Q9NZM1:p.Gly1701Ala SP substitution exon 1 VAR_049060 Q9BXU8:p.Tyr138His SP substitution exon 1 VAR_049061 Q9UGM5:p.Ser33Pro SP substitution exon 1 VAR_049063 P21781:p.Met59Thr SP substitution exon 1 VAR_049064 Q9NSA1:p.Leu174Pro SP substitution exon 1 VAR_049065 Q9BYJ0:p.Pro90Ser SP substitution exon 1 VAR_049066 P02679:p.Glu77Gly SP substitution exon 1 VAR_049067 Q08830:p.Met114Val SP substitution exon 1 VAR_049068 Q08830:p.Trp256Leu SP substitution exon 1 VAR_049069 O15123:p.Val333Ile SP substitution exon 1 VAR_049070 Q9Y264:p.Glu395Lys SP substitution exon 1 VAR_049071 Q9Y5C1:p.Asn418Tyr SP substitution exon 1 VAR_049072 Q15485:p.His113Tyr SP substitution exon 1 VAR_049073 Q15485:p.Gly117Ser SP substitution exon 1 VAR_049074 Q15485:p.Thr236Met SP substitution exon 1 VAR_049075 Q15485:p.Ala258Ser SP substitution exon 1 VAR_049076 Q8WWU7:p.Gln171Arg SP substitution exon 1 VAR_049077 P01266:p.Pro777Leu SP substitution exon 1 VAR_049078 P01266:p.Gly815Arg SP substitution exon 1 VAR_049079 P01266:p.Arg988Pro SP substitution exon 1 VAR_049080 P01266:p.Leu1063Met SP substitution exon 1 VAR_049081 P01266:p.Ser1222Leu SP substitution exon 1 VAR_049087 Q9NYQ3:p.Glu15Lys SP substitution exon 1 VAR_049088 Q9NYQ3:p.Leu221Met SP substitution exon 1 VAR_049089 Q8TDR4:p.Arg194His SP substitution exon 1 VAR_049090 P31512:p.Thr308Ser SP substitution exon 1 VAR_049091 P19883:p.Glu152Gln SP substitution exon 1 VAR_049092 Q8N475:p.Asp711Tyr SP substitution exon 1 VAR_049093 Q8N475:p.Lys815Glu SP substitution exon 1 VAR_049094 Q9NZ56:p.Arg1291Gly SP substitution exon 1 VAR_049095 O60879:p.Phe425Leu SP substitution exon 1 VAR_049096 O60879:p.Leu426Val SP substitution exon 1 VAR_049097 Q9NSV4:p.Asn363Ser SP substitution exon 1 VAR_049098 Q9NSV4:p.Phe773Leu SP substitution exon 1 VAR_049099 Q9NSV4:p.Glu1041Gly SP substitution exon 1 VAR_049100 Q16595:p.Ser202Cys SP substitution exon 1 VAR_049101 Q9Y5S8:p.Arg315His SP substitution exon 1 VAR_049102 Q9Y5S8:p.Arg378Lys SP substitution exon 1 VAR_049103 Q9HBY0:p.Thr171Lys SP substitution exon 1 VAR_049105 Q14331:p.Thr19Ala SP substitution exon 1 VAR_049106 P04066:p.Arg2Trp SP substitution exon 1 VAR_049107 P04066:p.Pro146Leu SP substitution exon 1 VAR_049108 P04066:p.Val260Ile SP substitution exon 1 VAR_049109 Q14802:p.Gly40Ser SP substitution exon 1 VAR_049110 Q9Y3Q3:p.Asp86Asn SP substitution exon 1 VAR_049111 P49755:p.Arg152Gly SP substitution exon 1 VAR_049112 Q6PL24:p.Gln5Lys SP substitution exon 1 VAR_049113 P43304:p.Arg264His SP substitution exon 1 VAR_049114 P43304:p.Lys453Gln SP substitution exon 1 VAR_049115 Q15063:p.Thr339Ile SP substitution exon 1 VAR_049117 O95479:p.Asp151Ala SP substitution exon 1 VAR_049118 O95479:p.Arg218Gln SP substitution exon 1 VAR_049119 O95479:p.Asn484Asp SP substitution exon 1 VAR_049120 O95479:p.Pro554Leu SP substitution exon 1 VAR_049121 P22466:p.Ala16Val SP substitution exon 1 VAR_049122 O95455:p.Gly15Ser SP substitution exon 1 VAR_049123 Q01415:p.Ile182Val SP substitution exon 1 VAR_049124 Q9NP97:p.Ser13Arg SP substitution exon 1 VAR_049125 Q9NP97:p.Ile71Phe SP substitution exon 1 VAR_049126 Q8TF09:p.His14Arg SP substitution exon 1 VAR_049127 P01350:p.Arg3Pro SP substitution exon 1 VAR_049128 O75879:p.Ala30Asp SP substitution exon 1 VAR_049129 O43716:p.Ser3Leu SP substitution exon 1 VAR_049130 O75603:p.Asp53Asn SP substitution exon 1 VAR_049131 O75603:p.Ala117Val SP substitution exon 1 VAR_049132 O75603:p.Gly203Ser SP substitution exon 1 VAR_049133 O75603:p.Ile227Val SP substitution exon 1 VAR_049134 P46940:p.Ser256Ala SP substitution exon 1 VAR_049135 P21359:p.Tyr80Ser SP substitution exon 1 VAR_049137 Q07960:p.Arg369Cys SP substitution exon 1 VAR_049138 P85298:p.Tyr172Cys SP substitution exon 1 VAR_049139 P85298:p.Gly333Arg SP substitution exon 1 VAR_049140 P85298:p.Pro415Leu SP substitution exon 1 VAR_049141 A1A4S6:p.Pro488Ser SP substitution exon 1 VAR_049145 Q52LW3:p.Pro1192Leu SP substitution exon 1 VAR_049146 Q8N103:p.Gly346Asp SP substitution exon 1 VAR_049147 Q15311:p.Ala617Val SP substitution exon 1 VAR_049148 Q96FS4:p.Arg80Gln SP substitution exon 1 VAR_049149 Q96FS4:p.Ala106Ser SP substitution exon 1 VAR_049150 Q96FS4:p.Glu174Asp SP substitution exon 1 VAR_049151 Q96FS4:p.Ser182Phe SP substitution exon 1 VAR_049152 O43166:p.Pro56Thr SP substitution exon 1 VAR_049153 Q9P2F8:p.Thr49Ala SP substitution exon 1 VAR_049154 Q9P2F8:p.Thr1322Ala SP substitution exon 1 VAR_049155 Q9P2F8:p.Ser1403Leu SP substitution exon 1 VAR_049156 Q9P2F8:p.Gly1639Ser SP substitution exon 1 VAR_049157 Q2PPJ7:p.Ser492Asn SP substitution exon 1 VAR_049158 P52306:p.Lys314Glu SP substitution exon 1 VAR_049159 O43295:p.Ile628Val SP substitution exon 1 VAR_049160 Q12951:p.Pro243Ser SP substitution exon 1 VAR_049161 Q12951:p.Asn362Ser SP substitution exon 1 VAR_049162 Q9P0K8:p.Pro229Arg SP substitution exon 1 VAR_049163 O00409:p.Tyr337His SP substitution exon 1 VAR_049164 P24394:p.Ala492Thr SP substitution exon 1 VAR_049165 P24394:p.Ala492Val SP substitution exon 1 VAR_049167 P48357:p.Asp124Gly SP substitution exon 1 VAR_049168 P48357:p.Thr699Met SP substitution exon 1 VAR_049169 Q99665:p.Gly420Ser SP substitution exon 1 VAR_049170 P29460:p.Val298Phe SP substitution exon 1 VAR_049171 Q14213:p.Ala174Val SP substitution exon 1 VAR_049172 P16471:p.Ile100Val SP substitution exon 1 VAR_049173 P40238:p.Lys39Asn SP substitution exon 1 VAR_049174 P40238:p.Val114Met SP substitution exon 1 VAR_049175 Q13651:p.Pro353Ser SP substitution exon 1 VAR_049176 Q96F46:p.Pro562Gln SP substitution exon 1 VAR_049177 Q9NRM6:p.Gly177Ser SP substitution exon 1 VAR_049178 Q9NRM6:p.Ala209Val SP substitution exon 1 VAR_049179 Q9NRM6:p.Arg232Gln SP substitution exon 1 VAR_049180 Q8IUI8:p.Val202Met SP substitution exon 1 VAR_049181 P19440:p.Val435Ala SP substitution exon 1 VAR_049182 P51606:p.Asp284Gly SP substitution exon 1 VAR_049183 O15130:p.Trp88Arg SP substitution exon 1 VAR_049184 P83859:p.Leu68His SP substitution exon 1 VAR_049185 P01286:p.Tyr32Cys SP substitution exon 1 VAR_049187 Q05586:p.Ile540Met SP substitution exon 1 VAR_049188 O94925:p.Ala254Pro SP substitution exon 1 VAR_049189 P35754:p.Asp47Tyr SP substitution exon 1 VAR_049190 Q13231:p.Arg40His SP substitution exon 1 VAR_049191 Q13231:p.Gln171His SP substitution exon 1 VAR_049192 Q9BZP6:p.Gly102Arg SP substitution exon 1 VAR_049197 Q01459:p.Val274Ile SP substitution exon 1 VAR_049198 Q15782:p.Ala182Val SP substitution exon 1 VAR_049199 Q12889:p.Asp332Glu SP substitution exon 1 VAR_049200 Q12889:p.Met479Val SP substitution exon 1 VAR_049201 Q12889:p.Tyr514His SP substitution exon 1 VAR_049202 Q12889:p.Ser536Gly SP substitution exon 1 VAR_049204 Q9Y3R4:p.Ala145Thr SP substitution exon 1 VAR_049205 O43280:p.Thr389Ala SP substitution exon 1 VAR_049206 O43280:p.Tyr449His SP substitution exon 1 VAR_049207 O43280:p.Arg486Trp SP substitution exon 1 VAR_049208 O43280:p.Ala558Pro SP substitution exon 1 VAR_049209 O00754:p.Ala250Ser SP substitution exon 1 VAR_049210 O00754:p.Ala481Ser SP substitution exon 1 VAR_049213 P38567:p.Val47Ala SP substitution exon 1 VAR_049214 P31040:p.Phe33Val SP substitution exon 1 VAR_049215 P31040:p.Asp38Val SP substitution exon 1 VAR_049216 P31040:p.Glu240Gln SP substitution exon 1 VAR_049218 P04406:p.Lys251Asn SP substitution exon 1 VAR_049219 O14556:p.Asp110Asn SP substitution exon 1 VAR_049220 P21695:p.Val197Ala SP substitution exon 1 VAR_049221 Q9H6U8:p.Ala232Pro SP substitution exon 1 VAR_049222 Q9H6U8:p.Ser255Leu SP substitution exon 1 VAR_049225 Q11201:p.Asn111Ser SP substitution exon 1 VAR_049226 Q9NSC7:p.Ile424Val SP substitution exon 1 VAR_049227 Q9Y274:p.Ala311Thr SP substitution exon 1 VAR_049228 Q92935:p.Arg163His SP substitution exon 1 VAR_049229 O43909:p.Leu706Pro SP substitution exon 1 VAR_049230 O95995:p.Arg259Gln SP substitution exon 1 VAR_049233 Q13724:p.Gly222Arg SP substitution exon 1 VAR_049234 Q13724:p.Pro293Ser SP substitution exon 1 VAR_049235 Q13724:p.Arg495Pro SP substitution exon 1 VAR_049237 Q00973:p.Ala516Val SP substitution exon 1 VAR_049238 Q8NHY0:p.Ala40Asp SP substitution exon 1 VAR_049239 Q8NHY0:p.Cys466Arg SP substitution exon 1 VAR_049240 Q10471:p.Arg245His SP substitution exon 1 VAR_049241 Q9NY28:p.Asp630Gly SP substitution exon 1 VAR_049242 Q8IUC8:p.Glu59Asp SP substitution exon 1 VAR_049243 Q8N3T1:p.Val68Gly SP substitution exon 1 VAR_049244 Q8N3T1:p.Pro151Leu SP substitution exon 1 VAR_049245 Q8N3T1:p.Pro324Ala SP substitution exon 1 VAR_049247 Q9H1C3:p.Ala37Thr SP substitution exon 1 VAR_049248 Q96PE7:p.Ala76Val SP substitution exon 1 VAR_049249 Q9BSJ2:p.Ile193Thr SP substitution exon 1 VAR_049251 Q96CW5:p.Thr208Ser SP substitution exon 1 VAR_049252 Q96RT8:p.Glu662Asp SP substitution exon 1 VAR_049253 P25092:p.Phe281Leu SP substitution exon 1 VAR_049254 Q02846:p.Arg331Ser SP substitution exon 1 VAR_049255 Q02846:p.Arg602Trp SP substitution exon 1 VAR_049256 Q02846:p.Arg722Trp SP substitution exon 1 VAR_049257 Q02108:p.Val25Ile SP substitution exon 1 VAR_049259 Q96CN9:p.Ala122Val SP substitution exon 1 VAR_049260 Q96CN9:p.Gln262Arg SP substitution exon 1 VAR_049261 Q96CN9:p.Ala274Thr SP substitution exon 1 VAR_049262 Q96CN9:p.Arg618Cys SP substitution exon 1 VAR_049263 Q5JY77:p.Ile779Val SP substitution exon 1 VAR_049264 Q5JY77:p.Pro1093Ser SP substitution exon 1 VAR_049265 Q96D09:p.Arg173Ser SP substitution exon 1 VAR_049266 Q6PI77:p.Ser132Gly SP substitution exon 1 VAR_049267 Q6PI77:p.Cys318Arg SP substitution exon 1 VAR_049268 P16520:p.Val40Met SP substitution exon 1 VAR_049269 P16520:p.Val81Met SP substitution exon 1 VAR_049270 O14775:p.Ala213Val SP substitution exon 1 VAR_049271 O14610:p.Leu11Phe SP substitution exon 1 VAR_049272 P69905:p.Leu92Phe SP substitution exon 1 VAR_049273 P68871:p.Leu82Val SP substitution exon 1 VAR_049274 Q14832:p.Gly475Asp SP substitution exon 1 VAR_049275 Q14833:p.Leu169Phe SP substitution exon 1 VAR_049276 Q14831:p.Ile495Val SP substitution exon 1 VAR_049277 Q14831:p.Gly745Glu SP substitution exon 1 VAR_049278 O00222:p.Ile265Thr SP substitution exon 1 VAR_049280 O75899:p.Leu163Pro SP substitution exon 1 VAR_049281 Q8NFJ5:p.Cys9Phe SP substitution exon 1 VAR_049282 Q8NFJ5:p.Thr182Ala SP substitution exon 1 VAR_049283 Q5T6X5:p.Ile144Arg SP substitution exon 1 VAR_049284 Q8NFN8:p.Glu516Asp SP substitution exon 1 VAR_049285 Q5T848:p.Ala425Gly SP substitution exon 1 VAR_049286 Q5T848:p.Ile1209Val SP substitution exon 1 VAR_049287 Q6PRD1:p.Gln1176Glu SP substitution exon 1 VAR_049288 Q6PRD1:p.Cys1381Arg SP substitution exon 1 VAR_049289 Q6PRD1:p.Gln1869Glu SP substitution exon 1 VAR_049290 Q9UP38:p.Val343Met SP substitution exon 1 VAR_049291 Q13467:p.Pro216Leu SP substitution exon 1 VAR_049292 O75084:p.Gly24Asp SP substitution exon 1 VAR_049293 Q6ISB3:p.Val415Ile SP substitution exon 1 VAR_049294 Q9NZI7:p.Asn109Ser SP substitution exon 1 VAR_049295 Q9UEF7:p.Pro514Ser SP substitution exon 1 VAR_049296 Q86Z14:p.Tyr906His SP substitution exon 1 VAR_049297 Q6UWM7:p.Thr212Met SP substitution exon 1 VAR_049298 Q9H227:p.Met172Ile SP substitution exon 1 VAR_049299 Q9H4K7:p.His93Arg SP substitution exon 1 VAR_049300 Q9H4K7:p.Ala337Val SP substitution exon 1 VAR_049301 Q02539:p.Thr99Ile SP substitution exon 1 VAR_049302 Q02539:p.Ser115Phe SP substitution exon 1 VAR_049303 Q02539:p.Lys140Arg SP substitution exon 1 VAR_049304 P16403:p.Ser113Ala SP substitution exon 1 VAR_049305 P16403:p.Gly124Ala SP substitution exon 1 VAR_049306 P16402:p.Glu75Lys SP substitution exon 1 VAR_049307 P10412:p.Lys152Arg SP substitution exon 1 VAR_049308 P16401:p.Lys144Arg SP substitution exon 1 VAR_049309 P16401:p.Ala211Thr SP substitution exon 1 VAR_049310 P22492:p.Val14Leu SP substitution exon 1 VAR_049311 P22492:p.Leu52Phe SP substitution exon 1 VAR_049312 P22492:p.Gln178Lys SP substitution exon 1 VAR_049313 Q99880:p.Leu4Pro SP substitution exon 1 VAR_049314 P0C1H6:p.Arg22His SP substitution exon 1 VAR_049315 Q7Z2G1:p.Arg87Trp SP substitution exon 1 VAR_049316 P10915:p.Asn281Ser SP substitution exon 1 VAR_049317 O00219:p.Arg173His SP substitution exon 1 VAR_049318 Q9BZJ0:p.Phe51Leu SP substitution exon 1 VAR_049319 Q9BZJ0:p.Gln111His SP substitution exon 1 VAR_049320 Q9BZJ0:p.Thr158Ala SP substitution exon 1 VAR_049321 Q9BZJ0:p.Val843Ile SP substitution exon 1 VAR_049322 Q9NYH9:p.Leu134Val SP substitution exon 1 VAR_049323 Q06430:p.Pro85Arg SP substitution exon 1 VAR_049324 Q86Y38:p.Pro325Arg SP substitution exon 1 VAR_049325 Q86Y38:p.Pro766Ala SP substitution exon 1 VAR_049326 Q86Y38:p.Val839Ile SP substitution exon 1 VAR_049327 Q86Y38:p.Arg892Gln SP substitution exon 1 VAR_049328 Q9H1B5:p.Gly60Arg SP substitution exon 1 VAR_049329 Q9H583:p.His348Arg SP substitution exon 1 VAR_049330 Q9H583:p.Met607Val SP substitution exon 1 VAR_049331 Q9H583:p.Asp957Gly SP substitution exon 1 VAR_049332 Q9H583:p.Tyr1433Cys SP substitution exon 1 VAR_049333 Q9H583:p.Ser1559Asn SP substitution exon 1 VAR_049334 Q9H583:p.Arg1654His SP substitution exon 1 VAR_049335 Q9H583:p.Ser2077Leu SP substitution exon 1 VAR_049336 Q96C10:p.Thr76Ala SP substitution exon 1 VAR_049337 Q96C10:p.Arg95Gln SP substitution exon 1 VAR_049338 A2PYH4:p.Ile939Val SP substitution exon 1 VAR_049339 Q8N3C0:p.Glu344Lys SP substitution exon 1 VAR_049340 Q8N3C0:p.Asn478Ser SP substitution exon 1 VAR_049341 Q8N3C0:p.Val1425Ala SP substitution exon 1 VAR_049342 Q8N3C0:p.Arg1497Thr SP substitution exon 1 VAR_049343 P42285:p.Ala346Pro SP substitution exon 1 VAR_049344 P55160:p.Ser402Leu SP substitution exon 1 VAR_049345 P10746:p.Lys124Arg SP substitution exon 1 VAR_049346 P10746:p.Val171Gly SP substitution exon 1 VAR_049347 Q9Y2C3:p.Ser27Arg SP substitution exon 1 VAR_049348 Q7Z7M8:p.Ser137Gly SP substitution exon 1 VAR_049349 O95396:p.Ser429Ala SP substitution exon 1 VAR_049351 Q9H553:p.Ser11Pro SP substitution exon 1 VAR_049352 Q9H553:p.Val367Ala SP substitution exon 1 VAR_049353 Q93099:p.Gln80His SP substitution exon 1 VAR_049354 Q9P298:p.Ser86Asn SP substitution exon 1 VAR_049355 Q9P298:p.Asp87Asn SP substitution exon 1 VAR_049356 Q969S8:p.Val429Ile SP substitution exon 1 VAR_049357 Q8NE62:p.Asn441Ser SP substitution exon 1 VAR_049359 Q03113:p.Phe242Leu SP substitution exon 1 VAR_049360 Q03113:p.Tyr330His SP substitution exon 1 VAR_049361 P28069:p.Ala19Val SP substitution exon 1 VAR_049366 P33765:p.Ile248Leu SP substitution exon 1 VAR_049367 P33765:p.Met266Lys SP substitution exon 1 VAR_049368 P20309:p.Leu431Pro SP substitution exon 1 VAR_049369 Q01718:p.Phe278Cys SP substitution exon 1 VAR_049370 P35348:p.Ile200Ser SP substitution exon 1 VAR_049371 P35348:p.Lys414Arg SP substitution exon 1 VAR_049372 P35348:p.Glu465Asp SP substitution exon 1 VAR_049373 P07550:p.Asn15Ser SP substitution exon 1 VAR_049374 P50052:p.Tyr231His SP substitution exon 1 VAR_049375 P35414:p.Val300Ile SP substitution exon 1 VAR_049376 P46663:p.Arg317Gln SP substitution exon 1 VAR_049377 P21730:p.Asp2Asn SP substitution exon 1 VAR_049378 P21730:p.Lys279Asn SP substitution exon 1 VAR_049379 O00590:p.Val41Ala SP substitution exon 1 VAR_049380 O00590:p.Ala248Val SP substitution exon 1 VAR_049381 O00590:p.Leu311Val SP substitution exon 1 VAR_049382 P51677:p.Pro39Leu SP substitution exon 1 VAR_049383 P32248:p.Met7Val SP substitution exon 1 VAR_049384 P51685:p.Ala27Gly SP substitution exon 1 VAR_049385 O00421:p.Tyr4Cys SP substitution exon 1 VAR_049386 P49238:p.Glu13Asp SP substitution exon 1 VAR_049387 O60755:p.Arg342Gly SP substitution exon 1 VAR_049388 P32239:p.Val77Gly SP substitution exon 1 VAR_049389 Q92847:p.Thr5Ile SP substitution exon 1 VAR_049390 P46093:p.Ser295Asn SP substitution exon 1 VAR_049391 P49685:p.Met112Val SP substitution exon 1 VAR_049392 O00270:p.His91Arg SP substitution exon 1 VAR_049393 O43194:p.Arg390Cys SP substitution exon 1 VAR_049394 Q9Y5Y3:p.Leu312Phe SP substitution exon 1 VAR_049395 Q9Y2T6:p.Thr215Asn SP substitution exon 1 VAR_049396 Q9BZJ6:p.Val21Met SP substitution exon 1 VAR_049397 Q9NQS5:p.Gly37Asp SP substitution exon 1 VAR_049398 Q96P66:p.Val124Leu SP substitution exon 1 VAR_049399 Q96P66:p.Leu376Pro SP substitution exon 1 VAR_049400 Q8TDS4:p.Gln187Arg SP substitution exon 1 VAR_049401 Q8TDS4:p.Phe198Leu SP substitution exon 1 VAR_049402 Q8IZ08:p.Val481Ala SP substitution exon 1 VAR_049403 Q8TDV2:p.Thr317Pro SP substitution exon 1 VAR_049404 Q8TDV0:p.Pro40Leu SP substitution exon 1 VAR_049405 Q8TDV0:p.Ala144Val SP substitution exon 1 VAR_049406 Q8TDV0:p.Leu261Val SP substitution exon 1 VAR_049407 Q16538:p.Arg459Gly SP substitution exon 1 VAR_049408 O14626:p.Ile283Val SP substitution exon 1 VAR_049409 Q9BXC1:p.Ser162Pro SP substitution exon 1 VAR_049410 P35367:p.Lys19Asn SP substitution exon 1 VAR_049411 O75473:p.His383Arg SP substitution exon 1 VAR_049412 O75473:p.Val666Ala SP substitution exon 1 VAR_049413 Q9HBX8:p.Asn267Lys SP substitution exon 1 VAR_049414 Q92633:p.Asn77Ser SP substitution exon 1 VAR_049415 Q9UBY5:p.Arg231Gln SP substitution exon 1 VAR_049417 Q99705:p.Gly103Arg SP substitution exon 1 VAR_049418 Q96LB1:p.Val43Ile SP substitution exon 1 VAR_049419 Q96LA9:p.Asn245Ser SP substitution exon 1 VAR_049420 P48039:p.Ile212Thr SP substitution exon 1 VAR_049421 P49286:p.Arg231His SP substitution exon 1 VAR_049422 P29371:p.Lys286Arg SP substitution exon 1 VAR_049423 P29371:p.Ala449Thr SP substitution exon 1 VAR_049424 P30989:p.Gln275His SP substitution exon 1 VAR_049425 O95665:p.Ala54Val SP substitution exon 1 VAR_049426 P35372:p.Gly63Val SP substitution exon 1 VAR_049427 P35372:p.Ser66Phe SP substitution exon 1 VAR_049428 Q8TDS5:p.Met316Leu SP substitution exon 1 VAR_049429 P51582:p.Ser234Ala SP substitution exon 1 VAR_049430 P43657:p.Trp307Cys SP substitution exon 1 VAR_049431 Q9H244:p.Glu330Gly SP substitution exon 1 VAR_049432 P25116:p.Tyr187Asn SP substitution exon 1 VAR_049433 P25116:p.Val257Leu SP substitution exon 1 VAR_049434 P25116:p.Ser412Tyr SP substitution exon 1 VAR_049435 P55085:p.Asn30Ser SP substitution exon 1 VAR_049436 P43115:p.Thr319Met SP substitution exon 1 VAR_049437 Q96P65:p.Phe61Val SP substitution exon 1 VAR_049438 Q96P65:p.His149Gln SP substitution exon 1 VAR_049440 P32745:p.Pro37Leu SP substitution exon 1 VAR_049441 P31391:p.Gly236Asp SP substitution exon 1 VAR_049442 P35346:p.Arg234Cys SP substitution exon 1 VAR_049443 P35346:p.Val267Ile SP substitution exon 1 VAR_049444 P35346:p.Gly357Arg SP substitution exon 1 VAR_049445 Q96RJ0:p.Arg23Cys SP substitution exon 1 VAR_049446 Q96RJ0:p.Thr252Ala SP substitution exon 1 VAR_049447 Q969N4:p.Ser153Asn SP substitution exon 1 VAR_049448 Q969N4:p.Asp328Ala SP substitution exon 1 VAR_049449 Q96RI9:p.Ala278Thr SP substitution exon 1 VAR_049450 P34981:p.Ile168Met SP substitution exon 1 VAR_049451 Q9UKP6:p.Ala70Pro SP substitution exon 1 VAR_049452 Q9GZP7:p.Ile103Met SP substitution exon 1 VAR_049453 Q16602:p.Phe16Leu SP substitution exon 1 VAR_049454 Q16602:p.Arg274Ile SP substitution exon 1 VAR_049455 Q13324:p.Glu220Asp SP substitution exon 1 VAR_049456 P47872:p.Asp110Asn SP substitution exon 1 VAR_049457 Q9Y653:p.Met493Thr SP substitution exon 1 VAR_049459 Q96K78:p.Thr645Ser SP substitution exon 1 VAR_049460 Q96K78:p.Arg756His SP substitution exon 1 VAR_049461 Q6QNK2:p.Val508Met SP substitution exon 1 VAR_049462 Q6QNK2:p.Ser523Leu SP substitution exon 1 VAR_049463 O94910:p.Glu595Gln SP substitution exon 1 VAR_049464 Q9NYQ6:p.Ile587Val SP substitution exon 1 VAR_049465 Q9NYQ6:p.Val1242Ile SP substitution exon 1 VAR_049466 Q9NYQ6:p.Tyr1894His SP substitution exon 1 VAR_049467 Q9NYQ6:p.Leu1994Pro SP substitution exon 1 VAR_049468 Q9NYQ6:p.Leu1995Pro SP substitution exon 1 VAR_049469 Q9NYQ6:p.Thr2045Met SP substitution exon 1 VAR_049470 Q9NYQ6:p.Arg2219His SP substitution exon 1 VAR_049471 Q9NYQ6:p.Cys2797Ser SP substitution exon 1 VAR_049472 Q9NYQ6:p.Glu2903Gln SP substitution exon 1 VAR_049473 Q9NYQ6:p.Gly2948Ser SP substitution exon 1 VAR_049474 Q9HCU4:p.Arg1066Gln SP substitution exon 1 VAR_049475 Q9HCU4:p.Gly1992Arg SP substitution exon 1 VAR_049476 Q9HCU4:p.Thr2387Ala SP substitution exon 1 VAR_049480 Q9UL19:p.Val69Leu SP substitution exon 1 VAR_049481 Q9UL19:p.Ala162Val SP substitution exon 1 VAR_049482 P08263:p.Pro113Gln SP substitution exon 1 VAR_049483 P08263:p.Lys117Gln SP substitution exon 1 VAR_049484 Q16772:p.Ile71Leu SP substitution exon 1 VAR_049485 Q16772:p.Asn73Asp SP substitution exon 1 VAR_049486 P28161:p.Ser173Asn SP substitution exon 1 VAR_049491 P46439:p.Leu179Pro SP substitution exon 1 VAR_049492 Q9H4Y5:p.Cys130Tyr SP substitution exon 1 VAR_049493 P09211:p.Gly169Asp SP substitution exon 1 VAR_049494 Q9H7Z7:p.Arg298His SP substitution exon 1 VAR_049495 Q9NVN8:p.Arg320His SP substitution exon 1 VAR_049496 O00178:p.Gly91Arg SP substitution exon 1 VAR_049497 P55042:p.Gln66Pro SP substitution exon 1 VAR_049498 O75628:p.His28Arg SP substitution exon 1 VAR_049499 O75628:p.Pro59Ala SP substitution exon 1 VAR_049500 Q9ULG1:p.Ile882Val SP substitution exon 1 VAR_049501 P51531:p.Gly1416Ala SP substitution exon 1 VAR_049502 P51531:p.Asp1546Glu SP substitution exon 1 VAR_049503 Q9Y5R4:p.Arg192Gln SP substitution exon 1 VAR_049504 Q9Y5R4:p.His200Gln SP substitution exon 1 VAR_049505 Q5VV43:p.Gly567Ser SP substitution exon 1 VAR_049506 Q5VV43:p.Ser773Gly SP substitution exon 1 VAR_049507 Q5VV43:p.Val774Ala SP substitution exon 1 VAR_049508 Q5VV43:p.Tyr1013Cys SP substitution exon 1 VAR_049509 O43156:p.Lys751Glu SP substitution exon 1 VAR_049510 Q6ZU52:p.Ser331Leu SP substitution exon 1 VAR_049511 O43299:p.Ser94Cys SP substitution exon 1 VAR_049514 Q6ZNE5:p.Asn131Lys SP substitution exon 1 VAR_049520 Q9H0B3:p.Ala50Val SP substitution exon 1 VAR_049521 Q9H0B3:p.Cys197Arg SP substitution exon 1 VAR_049522 Q9H0B3:p.Thr524Ala SP substitution exon 1 VAR_049523 Q9H0B3:p.Thr610Pro SP substitution exon 1 VAR_049524 Q9H0B3:p.Ala614Val SP substitution exon 1 VAR_049525 Q9H0B3:p.Pro835Leu SP substitution exon 1 VAR_049526 Q9C0C6:p.Thr203Ala SP substitution exon 1 VAR_049527 Q96JN8:p.Gln1019His SP substitution exon 1 VAR_049528 Q5VW36:p.Glu721Lys SP substitution exon 1 VAR_049529 Q5QGS0:p.Ile1112Thr SP substitution exon 1 VAR_049530 Q8WWP7:p.Arg254Ser SP substitution exon 1 VAR_049531 Q9UG22:p.Val74Phe SP substitution exon 1 VAR_049532 Q9UG22:p.Asn152Ser SP substitution exon 1 VAR_049533 Q6P9H5:p.Val65Ile SP substitution exon 1 VAR_049534 Q8NHV1:p.Arg83Cys SP substitution exon 1 VAR_049535 Q13490:p.Met453Ile SP substitution exon 1 VAR_049536 Q13489:p.Val386Met SP substitution exon 1 VAR_049537 P27540:p.Glu435Lys SP substitution exon 1 VAR_049538 Q9HBZ2:p.Gly679Ser SP substitution exon 1 VAR_049539 Q92858:p.His237Gln SP substitution exon 1 VAR_049540 A6NFD8:p.Leu147Val SP substitution exon 1 VAR_049541 Q16665:p.Pro582Ser SP substitution exon 1 VAR_049542 Q16665:p.Ala588Thr SP substitution exon 1 VAR_049543 Q99081:p.Gly300Ser SP substitution exon 1 VAR_049544 P41134:p.Asn63Asp SP substitution exon 1 VAR_049545 P15884:p.Met450Ile SP substitution exon 1 VAR_049546 Q9BW11:p.Gln114His SP substitution exon 1 VAR_049547 Q9UH92:p.Gln223Arg SP substitution exon 1 VAR_049548 Q7RTS3:p.Ser263Pro SP substitution exon 1 VAR_049549 P81133:p.Leu175Phe SP substitution exon 1 VAR_049550 Q12772:p.Met536Leu SP substitution exon 1 VAR_049551 Q12772:p.Arg860Ser SP substitution exon 1 VAR_049552 P15923:p.Leu120Pro SP substitution exon 1 VAR_049553 P15923:p.Thr198Ala SP substitution exon 1 VAR_049555 Q9UL49:p.Glu380Asp SP substitution exon 1 VAR_049556 Q9NP71:p.Gln241His SP substitution exon 1 VAR_049557 Q9NP71:p.Asp244Glu SP substitution exon 1 VAR_049558 O15347:p.Thr51Ala SP substitution exon 1 VAR_049559 Q9UGU5:p.Gly165Val SP substitution exon 1 VAR_049560 Q96NM4:p.Val223Ala SP substitution exon 1 VAR_049561 Q9HCS4:p.Gly533Arg SP substitution exon 1 VAR_049562 Q9Y651:p.Gly230Arg SP substitution exon 1 VAR_049563 O94993:p.Gln429Lys SP substitution exon 1 VAR_049564 P08833:p.His114Asp SP substitution exon 1 VAR_049565 P24592:p.Arg134Leu SP substitution exon 1 VAR_049566 O76076:p.Arg59Gln SP substitution exon 1 VAR_049567 O95389:p.Arg60Cys SP substitution exon 1 VAR_049568 P48745:p.Arg42Gln SP substitution exon 1 VAR_049569 P48745:p.Arg233His SP substitution exon 1 VAR_049570 P78318:p.Arg20Lys SP substitution exon 1 VAR_049571 Q6B9Z1:p.Leu25Pro SP substitution exon 1 VAR_049572 Q6B9Z1:p.Arg60Gln SP substitution exon 1 VAR_049573 P18510:p.Ala124Thr SP substitution exon 1 VAR_049574 Q9NZH6:p.Pro50Arg SP substitution exon 1 VAR_049575 Q9NZH6:p.Asn54Ser SP substitution exon 1 VAR_049576 O95760:p.Ile263Met SP substitution exon 1 VAR_049577 Q9NYY1:p.Arg107Gln SP substitution exon 1 VAR_049578 Q8NFW5:p.Ala205Pro SP substitution exon 1 VAR_049579 Q14549:p.Ala194Thr SP substitution exon 1 VAR_049580 Q9BZM3:p.Gly107Ser SP substitution exon 1 VAR_049581 P52952:p.Asp16Ala SP substitution exon 1 VAR_049582 Q14774:p.Ala387Gly SP substitution exon 1 VAR_049583 P78413:p.Ala119Thr SP substitution exon 1 VAR_049584 P50221:p.Ser27Leu SP substitution exon 1 VAR_049585 P50222:p.Ile287Leu SP substitution exon 1 VAR_049586 P78337:p.Gly299Ala SP substitution exon 1 VAR_049587 Q8NHV9:p.Arg172His SP substitution exon 1 VAR_049588 P55347:p.Arg126His SP substitution exon 1 VAR_049589 P55347:p.Thr216Ala SP substitution exon 1 VAR_049590 Q96KN3:p.Glu110Lys SP substitution exon 1 VAR_049591 O95231:p.Glu101Lys SP substitution exon 1 VAR_049592 O95231:p.Gly191Arg SP substitution exon 1 VAR_049593 P58304:p.Pro100Gln SP substitution exon 1 VAR_049594 Q9Y6X8:p.Val357Met SP substitution exon 1 VAR_049595 Q9Y6X8:p.Arg649Lys SP substitution exon 1 VAR_049596 Q9Y6X8:p.Gly779Ser SP substitution exon 1 VAR_049597 Q9H4I2:p.Asn310Ser SP substitution exon 1 VAR_049598 Q9P0M4:p.Arg25Gly SP substitution exon 1 VAR_049599 P49441:p.Val355Met SP substitution exon 1 VAR_049600 P29218:p.Ile109Val SP substitution exon 1 VAR_049601 O14732:p.Ala88Thr SP substitution exon 1 VAR_049604 Q14573:p.Leu374Trp SP substitution exon 1 VAR_049605 P17066:p.Ala150Thr SP substitution exon 1 VAR_049606 P17066:p.Asn153Ser SP substitution exon 1 VAR_049607 P17066:p.Asp154Asn SP substitution exon 1 VAR_049608 P17066:p.Asn170Lys SP substitution exon 1 VAR_049609 P17066:p.Arg173Pro SP substitution exon 1 VAR_049610 P17066:p.Pro178Ala SP substitution exon 1 VAR_049611 P17066:p.Glu194Lys SP substitution exon 1 VAR_049612 P17066:p.Arg260His SP substitution exon 1 VAR_049613 P17066:p.Ser464Ile SP substitution exon 1 VAR_049614 P17066:p.Arg471His SP substitution exon 1 VAR_049615 P17066:p.Lys528Glu SP substitution exon 1 VAR_049616 P17066:p.Met572Val SP substitution exon 1 VAR_049617 P17066:p.Arg577Gln SP substitution exon 1 VAR_049618 P17066:p.Thr626Ala SP substitution exon 1 VAR_049619 P11142:p.Asp32Tyr SP substitution exon 1 VAR_049621 Q96MM6:p.Val23Leu SP substitution exon 1 VAR_049622 P38646:p.Arg127Gly SP substitution exon 1 VAR_049623 P38646:p.Ala225Gly SP substitution exon 1 VAR_049624 P08238:p.Lys349Glu SP substitution exon 1 VAR_049625 Q12931:p.Asp395Glu SP substitution exon 1 VAR_049627 Q8N201:p.Pro172Leu SP substitution exon 1 VAR_049628 Q9H0H0:p.Asn768His SP substitution exon 1 VAR_049629 Q96CB8:p.Thr323Ala SP substitution exon 1 VAR_049630 P56199:p.Val670Ile SP substitution exon 1 VAR_049631 P08648:p.Arg585Ile SP substitution exon 1 VAR_049632 P20702:p.Phe201Leu SP substitution exon 1 VAR_049633 P05106:p.Leu66Arg SP substitution exon 1 VAR_049634 P18084:p.Arg431Gln SP substitution exon 1 VAR_049635 P18084:p.Asn477Ser SP substitution exon 1 VAR_049636 P18564:p.Pro437Thr SP substitution exon 1 VAR_049637 P26010:p.His672Tyr SP substitution exon 1 VAR_049638 P01568:p.Lys179Glu SP substitution exon 1 VAR_049639 Q86WN2:p.Gln46His SP substitution exon 1 VAR_049640 Q92813:p.Ala81Asp SP substitution exon 1 VAR_049641 Q9H8X2:p.Arg277Trp SP substitution exon 1 VAR_049642 Q9H8X2:p.Leu376Phe SP substitution exon 1 VAR_049643 Q14653:p.Tyr107Phe SP substitution exon 1 VAR_049645 Q86YH6:p.Phe3Leu SP substitution exon 1 VAR_049646 P04234:p.Gln147Arg SP substitution exon 1 VAR_049647 Q06033:p.Gln315Lys SP substitution exon 1 VAR_049648 Q06033:p.Thr340Met SP substitution exon 1 VAR_049649 Q06033:p.Thr751Ala SP substitution exon 1 VAR_049650 Q06033:p.Arg825Gln SP substitution exon 1 VAR_049651 Q06033:p.Ala858Val SP substitution exon 1 VAR_049652 Q6ZMT4:p.Asp392Tyr SP substitution exon 1 VAR_049653 Q6ZMT4:p.Arg644Ser SP substitution exon 1 VAR_049654 Q15652:p.Ala272Thr SP substitution exon 1 VAR_049655 Q15652:p.Glu394Asp SP substitution exon 1 VAR_049656 Q15652:p.Ser464Thr SP substitution exon 1 VAR_049657 Q15652:p.Asn1393Tyr SP substitution exon 1 VAR_049660 Q9H3R0:p.Glu206Asp SP substitution exon 1 VAR_049661 Q9H3R0:p.Ser492Thr SP substitution exon 1 VAR_049662 Q9H3R0:p.Asn697Ser SP substitution exon 1 VAR_049664 Q9UQF2:p.Ala322Val SP substitution exon 1 VAR_049665 Q9UQF2:p.Arg353Gln SP substitution exon 1 VAR_049666 Q13387:p.Pro743Leu SP substitution exon 1 VAR_049667 Q9UPT6:p.Thr753Ala SP substitution exon 1 VAR_049668 P48048:p.Arg6Trp SP substitution exon 1 VAR_049669 P48549:p.Lys40Arg SP substitution exon 1 VAR_049670 Q15842:p.Val334Ala SP substitution exon 1 VAR_049671 Q14500:p.Ser15Leu SP substitution exon 1 VAR_049672 Q14500:p.Pro156Leu SP substitution exon 1 VAR_049673 Q14500:p.Ile249Val SP substitution exon 1 VAR_049674 P12277:p.Leu360Phe SP substitution exon 1 VAR_049675 P06732:p.Thr166Met SP substitution exon 1 VAR_049676 Q92667:p.Ala18Val SP substitution exon 1 VAR_049677 Q92667:p.Cys102Tyr SP substitution exon 1 VAR_049678 Q92667:p.Arg124Cys SP substitution exon 1 VAR_049679 Q96AE4:p.Ile399Lys SP substitution exon 1 VAR_049680 Q13601:p.Arg134Gln SP substitution exon 1 VAR_049681 P57723:p.Gly198Ser SP substitution exon 1 VAR_049682 P52732:p.Leu1042Phe SP substitution exon 1 VAR_049683 Q99661:p.Ile449Leu SP substitution exon 1 VAR_049684 Q96AC6:p.Gly67Glu SP substitution exon 1 VAR_049685 Q96AC6:p.Ser166Phe SP substitution exon 1 VAR_049686 Q02241:p.Phe515Leu SP substitution exon 1 VAR_049687 Q9UIL4:p.Thr229Pro SP substitution exon 1 VAR_049688 Q9UIL4:p.Ala255Thr SP substitution exon 1 VAR_049689 Q02224:p.Phe1535Leu SP substitution exon 1 VAR_049690 Q02224:p.Ser1581Arg SP substitution exon 1 VAR_049691 Q02224:p.Glu1925Asp SP substitution exon 1 VAR_049692 Q02224:p.Thr2090Met SP substitution exon 1 VAR_049693 O95239:p.Ala491Val SP substitution exon 1 VAR_049695 Q2VIQ3:p.Glu494Gln SP substitution exon 1 VAR_049696 Q2VIQ3:p.Arg580Leu SP substitution exon 1 VAR_049697 Q2VIQ3:p.Arg680His SP substitution exon 1 VAR_049698 Q6ZMV9:p.Arg512His SP substitution exon 1 VAR_049699 Q9H1H9:p.Phe1600Ser SP substitution exon 1 VAR_049700 Q96L93:p.Gly810Arg SP substitution exon 1 VAR_049701 Q8NI77:p.Thr273Ala SP substitution exon 1 VAR_049702 Q8NI77:p.Pro334Ser SP substitution exon 1 VAR_049703 Q2TAC6:p.Leu937Pro SP substitution exon 1 VAR_049704 O95235:p.Glu63Lys SP substitution exon 1 VAR_049705 O95235:p.Pro839Leu SP substitution exon 1 VAR_049706 Q5T7B8:p.Trp218Leu SP substitution exon 1 VAR_049707 Q5T7B8:p.Thr1077Lys SP substitution exon 1 VAR_049708 Q9NSK0:p.Arg72His SP substitution exon 1 VAR_049709 Q9UPQ8:p.Asp224Val SP substitution exon 1 VAR_049710 P21860:p.Asn385Ser SP substitution exon 1 VAR_049712 P08922:p.Asn790Ser SP substitution exon 1 VAR_049713 P08922:p.Lys2328Arg SP substitution exon 1 VAR_049714 P04629:p.Gly18Glu SP substitution exon 1 VAR_049715 Q16620:p.Gly545Val SP substitution exon 1 VAR_049717 P09619:p.Pro345Ser SP substitution exon 1 VAR_049718 P07333:p.Val279Met SP substitution exon 1 VAR_049719 P17948:p.Ile128Leu SP substitution exon 1 VAR_049720 P22455:p.Arg529Gln SP substitution exon 1 VAR_049722 Q719H9:p.Leu107Trp SP substitution exon 1 VAR_049724 Q16719:p.Arg188Gln SP substitution exon 1 VAR_049725 P34810:p.Ile329Thr SP substitution exon 1 VAR_049726 P34810:p.Ala350Thr SP substitution exon 1 VAR_049727 Q96NW7:p.His1054Tyr SP substitution exon 1 VAR_049728 P17213:p.Ala12Thr SP substitution exon 1 VAR_049729 P17213:p.Ala12Val SP substitution exon 1 VAR_049730 P17213:p.Arg90Cys SP substitution exon 1 VAR_049732 P17213:p.Glu140Gln SP substitution exon 1 VAR_049733 P17213:p.Ala280Val SP substitution exon 1 VAR_049734 P17213:p.Val377Ile SP substitution exon 1 VAR_049735 P17213:p.Asn404Asp SP substitution exon 1 VAR_049736 P17213:p.Lys451Glu SP substitution exon 1 VAR_049737 P18428:p.Arg111Gln SP substitution exon 1 VAR_049738 P18428:p.Glu147Lys SP substitution exon 1 VAR_049739 P18428:p.Ile364Thr SP substitution exon 1 VAR_049740 Q8N4F0:p.Ala63Val SP substitution exon 1 VAR_049741 Q8NFQ6:p.Glu479Ala SP substitution exon 1 VAR_049742 P59826:p.Val228Met SP substitution exon 1 VAR_049743 P59826:p.Thr290Met SP substitution exon 1 VAR_049744 P59826:p.His334Gln SP substitution exon 1 VAR_049745 P59826:p.Tyr369Cys SP substitution exon 1 VAR_049746 P59826:p.Pro449Ser SP substitution exon 1 VAR_049747 Q8TDL5:p.Thr140Ala SP substitution exon 1 VAR_049748 Q8TDL5:p.Val284Met SP substitution exon 1 VAR_049749 Q8TDL5:p.Asp287His SP substitution exon 1 VAR_049750 Q8TDL5:p.Thr464Ser SP substitution exon 1 VAR_049751 Q96DR5:p.Gly43Arg SP substitution exon 1 VAR_049752 Q96DR5:p.Lys113Glu SP substitution exon 1 VAR_049753 Q96DR5:p.Arg221Cys SP substitution exon 1 VAR_049754 Q9BQP9:p.Ala41Glu SP substitution exon 1 VAR_049755 Q9BQP9:p.Val136Ile SP substitution exon 1 VAR_049756 P60520:p.Val51Ala SP substitution exon 1 VAR_049757 Q9BYZ2:p.Pro259Ser SP substitution exon 1 VAR_049758 P07195:p.Met175Val SP substitution exon 1 VAR_049759 Q9NZR2:p.Gln48Arg SP substitution exon 1 VAR_049760 Q9NZR2:p.Gln3140Arg SP substitution exon 1 VAR_049761 Q9NZR2:p.Glu3458Lys SP substitution exon 1 VAR_049762 Q9NZR2:p.Gln3734Lys SP substitution exon 1 VAR_049763 Q9NZR2:p.Val4264Leu SP substitution exon 1 VAR_049764 O75074:p.Pro213Leu SP substitution exon 1 VAR_049766 Q9Y561:p.Ser694Gly SP substitution exon 1 VAR_049767 P05162:p.Val119Ile SP substitution exon 1 VAR_049768 P17931:p.Arg183Lys SP substitution exon 1 VAR_049769 P56470:p.Thr16Met SP substitution exon 1 VAR_049770 P49257:p.Ile355Thr SP substitution exon 1 VAR_049771 Q9HAT1:p.Arg105Gln SP substitution exon 1 VAR_049772 Q9HAT1:p.Arg517Ser SP substitution exon 1 VAR_049773 P42166:p.Leu238Arg SP substitution exon 1 VAR_049774 P42166:p.Ser293Ala SP substitution exon 1 VAR_049775 P42166:p.Thr317Ser SP substitution exon 1 VAR_049776 P42166:p.Lys416Glu SP substitution exon 1 VAR_049777 P42166:p.Lys478Asn SP substitution exon 1 VAR_049778 P42166:p.Arg690Cys SP substitution exon 1 VAR_049779 P42167:p.Ala287Pro SP substitution exon 1 VAR_049780 O75874:p.Val178Ile SP substitution exon 1 VAR_049781 O43837:p.Gln166His SP substitution exon 1 VAR_049782 P13725:p.Thr9Met SP substitution exon 1 VAR_049783 Q99456:p.Pro15Ser SP substitution exon 1 VAR_049784 P02533:p.Glu215Lys SP substitution exon 1 VAR_049786 Q7Z3Z0:p.Ser54Leu SP substitution exon 1 VAR_049787 Q6A162:p.Arg235His SP substitution exon 1 VAR_049788 Q6A162:p.Cys265Tyr SP substitution exon 1 VAR_049789 Q6A162:p.Glu286Asp SP substitution exon 1 VAR_049790 Q6A162:p.Met303Thr SP substitution exon 1 VAR_049791 Q6A162:p.Ser406Leu SP substitution exon 1 VAR_049792 O76013:p.Arg179Gln SP substitution exon 1 VAR_049793 O76013:p.Arg277Cys SP substitution exon 1 VAR_049794 O76013:p.Asn357Thr SP substitution exon 1 VAR_049795 O76014:p.Gly13Cys SP substitution exon 1 VAR_049796 O76014:p.Asn39Ser SP substitution exon 1 VAR_049797 O76014:p.Thr72Ala SP substitution exon 1 VAR_049798 O76014:p.Ser73Cys SP substitution exon 1 VAR_049799 O76014:p.Ala217Val SP substitution exon 1 VAR_049800 O76014:p.Ala306Asp SP substitution exon 1 VAR_049801 O76014:p.Ser421Phe SP substitution exon 1 VAR_049802 O76014:p.Thr422Met SP substitution exon 1 VAR_049803 O76014:p.Pro434Ser SP substitution exon 1 VAR_049804 P78386:p.Trp155Leu SP substitution exon 1 VAR_049805 P05787:p.Arg401Trp SP substitution exon 1 VAR_049806 Q7RTS7:p.Leu178Gln SP substitution exon 1 VAR_049807 Q6KB66:p.Val238Ile SP substitution exon 1 VAR_049808 Q16352:p.Thr92Ser SP substitution exon 1 VAR_049809 Q8N9Z9:p.Ala264Thr SP substitution exon 1 VAR_049810 Q8N9Z9:p.Glu267Gly SP substitution exon 1 VAR_049811 Q8N9Z9:p.Thr289Ala SP substitution exon 1 VAR_049812 Q8N9Z9:p.Ala290Thr SP substitution exon 1 VAR_049814 P48681:p.Val815Ile SP substitution exon 1 VAR_049815 P48681:p.Ser1016Asn SP substitution exon 1 VAR_049816 P48681:p.Pro1101Leu SP substitution exon 1 VAR_049817 P48681:p.Arg1133Ser SP substitution exon 1 VAR_049818 P48681:p.Pro1275Leu SP substitution exon 1 VAR_049819 P06858:p.His71Gln SP substitution exon 1 VAR_049820 P54315:p.Asn61Asp SP substitution exon 1 VAR_049822 Q9Y4D2:p.Gly735Val SP substitution exon 1 VAR_049823 Q9Y4D2:p.Asp945Glu SP substitution exon 1 VAR_049824 Q9H6B4:p.Arg69His SP substitution exon 1 VAR_049825 Q7KYR7:p.Arg124Cys SP substitution exon 1 VAR_049826 Q7KYR7:p.Val207Met SP substitution exon 1 VAR_049827 Q7KYR7:p.Arg378Gln SP substitution exon 1 VAR_049828 Q7KYR7:p.Gly451Ala SP substitution exon 1 VAR_049829 Q8WVV5:p.Pro479Ser SP substitution exon 1 VAR_049830 Q96KV6:p.Gly79Asp SP substitution exon 1 VAR_049831 Q96KV6:p.Val148Ile SP substitution exon 1 VAR_049832 Q96KV6:p.Asn300Ser SP substitution exon 1 VAR_049833 P78410:p.Arg167Thr SP substitution exon 1 VAR_049834 P78410:p.Ala182Thr SP substitution exon 1 VAR_049835 P78410:p.Arg211Lys SP substitution exon 1 VAR_049836 P78410:p.Ser307Asn SP substitution exon 1 VAR_049839 Q6UX41:p.Thr143Ala SP substitution exon 1 VAR_049840 Q6UX41:p.Glu229Lys SP substitution exon 1 VAR_049841 Q6UXG8:p.Gly511Arg SP substitution exon 1 VAR_049842 Q9BQ51:p.Ser58Thr SP substitution exon 1 VAR_049843 Q9BQ51:p.Ile241Thr SP substitution exon 1 VAR_049844 P13688:p.Gln35Lys SP substitution exon 1 VAR_049845 P13688:p.Ala83Val SP substitution exon 1 VAR_049846 P13688:p.Gln123His SP substitution exon 1 VAR_049847 P13688:p.Gln376Arg SP substitution exon 1 VAR_049848 Q14002:p.Ala263Val SP substitution exon 1 VAR_049849 P31997:p.Gly17Val SP substitution exon 1 VAR_049850 P31997:p.Ala45Val SP substitution exon 1 VAR_049851 P31997:p.Leu322Val SP substitution exon 1 VAR_049852 P31997:p.Ile340Met SP substitution exon 1 VAR_049855 P09564:p.Thr113Ala SP substitution exon 1 VAR_049856 Q13740:p.Met367Ile SP substitution exon 1 VAR_049857 Q5ZPR3:p.Pro97Leu SP substitution exon 1 VAR_049858 Q5ZPR3:p.Arg111Ser SP substitution exon 1 VAR_049859 Q5ZPR3:p.Gln137Leu SP substitution exon 1 VAR_049860 Q5ZPR3:p.Thr160Met SP substitution exon 1 VAR_049861 Q5ZPR3:p.Arg267His SP substitution exon 1 VAR_049862 Q5ZPR3:p.Ala279Thr SP substitution exon 1 VAR_049863 Q5ZPR3:p.Pro315Leu SP substitution exon 1 VAR_049864 Q5ZPR3:p.Arg329Ser SP substitution exon 1 VAR_049865 Q5ZPR3:p.Thr378Met SP substitution exon 1 VAR_049866 Q12860:p.Glu824Gly SP substitution exon 1 VAR_049868 O95727:p.Glu16Ala SP substitution exon 1 VAR_049869 O95727:p.Ala78Asp SP substitution exon 1 VAR_049870 O95727:p.Asp173Gly SP substitution exon 1 VAR_049871 P78310:p.Ser323Arg SP substitution exon 1 VAR_049872 Q96AP7:p.Arg273Cys SP substitution exon 1 VAR_049873 Q96LA5:p.Ile202Asn SP substitution exon 1 VAR_049874 Q99795:p.Lys165Asn SP substitution exon 1 VAR_049875 Q96RW7:p.Thr1056Ala SP substitution exon 1 VAR_049876 Q96RW7:p.Val1184Phe SP substitution exon 1 VAR_049877 Q96RW7:p.Gln4437Arg SP substitution exon 1 VAR_049878 P15814:p.Pro120Leu SP substitution exon 1 VAR_049879 P05362:p.Ser34Cys SP substitution exon 1 VAR_049880 O75144:p.Val128Ile SP substitution exon 1 VAR_049881 Q6UXK2:p.Ser137Phe SP substitution exon 1 VAR_049882 Q6ISS4:p.Gly78Ser SP substitution exon 1 VAR_049883 Q6ISS4:p.His87Arg SP substitution exon 1 VAR_049884 Q6ISS4:p.Phe115Tyr SP substitution exon 1 VAR_049885 P19256:p.Ser15Gly SP substitution exon 1 VAR_049886 O75019:p.Ser153Gly SP substitution exon 1 VAR_049887 O75019:p.Leu220Pro SP substitution exon 1 VAR_049888 Q8NHL6:p.Ala93Thr SP substitution exon 1 VAR_049889 Q96JA1:p.Leu24Val SP substitution exon 1 VAR_049891 Q9P2V4:p.Leu154Met SP substitution exon 1 VAR_049892 Q9P2V4:p.Pro258Gln SP substitution exon 1 VAR_049893 Q9P2V4:p.Pro389Thr SP substitution exon 1 VAR_049894 Q9ULH4:p.Asp770Asn SP substitution exon 1 VAR_049895 Q9BTN0:p.Ala14Val SP substitution exon 1 VAR_049896 Q6UXK5:p.Leu395Val SP substitution exon 1 VAR_049897 Q6UXK5:p.Thr702Pro SP substitution exon 1 VAR_049898 O75325:p.Ala19Thr SP substitution exon 1 VAR_049899 O75325:p.Val659Ala SP substitution exon 1 VAR_049900 O75325:p.Pro692Ser SP substitution exon 1 VAR_049901 Q9H3W5:p.Asp24Gly SP substitution exon 1 VAR_049902 Q86X29:p.Ser363Asn SP substitution exon 1 VAR_049903 P20273:p.Gly551Arg SP substitution exon 1 VAR_049904 P20138:p.Ala14Val SP substitution exon 1 VAR_049905 P20138:p.Trp22Arg SP substitution exon 1 VAR_049906 P20138:p.Ser128Asn SP substitution exon 1 VAR_049907 P20138:p.Gly304Arg SP substitution exon 1 VAR_049908 P20138:p.Thr331Ala SP substitution exon 1 VAR_049909 P09326:p.Leu241Ser SP substitution exon 1 VAR_049910 Q5VTT5:p.Asp258His SP substitution exon 1 VAR_049911 Q86TC9:p.Val393Ala SP substitution exon 1 VAR_049912 Q86TC9:p.Phe628Leu SP substitution exon 1 VAR_049913 Q86TC9:p.Pro1135Thr SP substitution exon 1 VAR_049914 Q9UBF9:p.Gln50Arg SP substitution exon 1 VAR_049915 P43121:p.Glu89Gly SP substitution exon 1 VAR_049916 Q2VWP7:p.Thr236Ala SP substitution exon 1 VAR_049917 Q2VWP7:p.Val826Leu SP substitution exon 1 VAR_049918 P11465:p.Thr176Ala SP substitution exon 1 VAR_049919 P11465:p.Gln179Leu SP substitution exon 1 VAR_049920 P11465:p.Thr335Arg SP substitution exon 1 VAR_049921 Q16557:p.Lys199Asn SP substitution exon 1 VAR_049922 Q00889:p.His85Asp SP substitution exon 1 VAR_049923 Q00889:p.Met161Thr SP substitution exon 1 VAR_049924 Q9UQ74:p.Gln315Pro SP substitution exon 1 VAR_049928 Q9NY72:p.Ser97Asn SP substitution exon 1 VAR_049929 O15389:p.Arg358Trp SP substitution exon 1 VAR_049930 Q9NYZ4:p.Arg388Gly SP substitution exon 1 VAR_049931 Q96PQ1:p.Pro81His SP substitution exon 1 VAR_049932 Q96PQ1:p.Ala82Val SP substitution exon 1 VAR_049933 Q96PQ1:p.Gly218Arg SP substitution exon 1 VAR_049936 Q9P1W8:p.Val263Ala SP substitution exon 1 VAR_049937 Q9P1W8:p.Ser286Leu SP substitution exon 1 VAR_049938 Q9NQ25:p.His175Tyr SP substitution exon 1 VAR_049939 Q9NQ25:p.Thr302Met SP substitution exon 1 VAR_049940 Q9P0V8:p.Pro5Thr SP substitution exon 1 VAR_049941 Q9P0V8:p.Gly99Ser SP substitution exon 1 VAR_049942 Q9P0V8:p.Val129Met SP substitution exon 1 VAR_049943 Q9BZZ2:p.Val141Leu SP substitution exon 1 VAR_049944 Q9BZZ2:p.Arg464His SP substitution exon 1 VAR_049945 Q9BZZ2:p.Arg1487Trp SP substitution exon 1 VAR_049946 Q96H15:p.Val240Ala SP substitution exon 1 VAR_049947 Q96H15:p.Val365Met SP substitution exon 1 VAR_049948 Q71H61:p.Val202Ile SP substitution exon 1 VAR_049949 Q9NP99:p.Lys135Thr SP substitution exon 1 VAR_049950 Q86YW5:p.His231Pro SP substitution exon 1 VAR_049951 P19320:p.Met18Ile SP substitution exon 1 VAR_049952 P19320:p.Val421Ile SP substitution exon 1 VAR_049953 P19320:p.His488Arg SP substitution exon 1 VAR_049954 Q9UKI3:p.Arg4Trp SP substitution exon 1 VAR_049955 Q86XK7:p.Val147Ile SP substitution exon 1 VAR_049956 Q9Y279:p.Arg108Trp SP substitution exon 1 VAR_049957 Q9Y279:p.Gly272Glu SP substitution exon 1 VAR_049958 Q9Y279:p.Gly279Glu SP substitution exon 1 VAR_049960 P13591:p.Asp260Asn SP substitution exon 1 VAR_049961 P13591:p.Glu679Asp SP substitution exon 1 VAR_049962 P13591:p.Thr834Met SP substitution exon 1 VAR_049963 Q0ZGT2:p.Gly245Arg SP substitution exon 1 VAR_049964 Q8NET5:p.His137Tyr SP substitution exon 1 VAR_049965 Q8NET5:p.Asn187Lys SP substitution exon 1 VAR_049966 Q8TDY8:p.Ala52Pro SP substitution exon 1 VAR_049967 Q8TDY8:p.Asn301Ser SP substitution exon 1 VAR_049970 O60500:p.Thr233Ala SP substitution exon 1 VAR_049971 O60500:p.Leu392Pro SP substitution exon 1 VAR_049972 O60500:p.Val991Leu SP substitution exon 1 VAR_049973 P57087:p.Ser286Arg SP substitution exon 1 VAR_049974 Q86YT9:p.Ile94Asn SP substitution exon 1 VAR_049975 Q86YT9:p.Val193Ala SP substitution exon 1 VAR_049978 P43628:p.Pro37Arg SP substitution exon 1 VAR_049979 P43628:p.Phe66Tyr SP substitution exon 1 VAR_049980 P43632:p.Lys65Met SP substitution exon 1 VAR_049981 P43632:p.Asn68Asp SP substitution exon 1 VAR_049982 P43632:p.His71Arg SP substitution exon 1 VAR_049983 P43632:p.Pro89Arg SP substitution exon 1 VAR_049984 P43632:p.Pro92His SP substitution exon 1 VAR_049985 P43632:p.Val93Asp SP substitution exon 1 VAR_049986 P43632:p.Ser103Cys SP substitution exon 1 VAR_049987 P43629:p.Pro203Ser SP substitution exon 1 VAR_049988 P43629:p.Pro220Leu SP substitution exon 1 VAR_049989 P43629:p.Leu362Arg SP substitution exon 1 VAR_049990 P43629:p.Glu394Gln SP substitution exon 1 VAR_049991 P43630:p.Pro132Thr SP substitution exon 1 VAR_049992 P43630:p.Thr397Met SP substitution exon 1 VAR_049994 P15151:p.Ala295Thr SP substitution exon 1 VAR_049995 Q9NQS3:p.Arg432Leu SP substitution exon 1 VAR_049996 P24071:p.Asp113Asn SP substitution exon 1 VAR_049997 P24071:p.Ser269Gly SP substitution exon 1 VAR_049998 Q13136:p.Leu1072Phe SP substitution exon 1 VAR_050000 O75342:p.Gly94Ser SP substitution exon 1 VAR_050001 Q9Y608:p.Lys143Glu SP substitution exon 1 VAR_050002 P52294:p.Ser73Asn SP substitution exon 1 VAR_050003 O95373:p.Thr111Asn SP substitution exon 1 VAR_050004 Q9UI26:p.Asn260Asp SP substitution exon 1 VAR_050005 Q9UI26:p.Ile937Val SP substitution exon 1 VAR_050007 P04090:p.Val12Phe SP substitution exon 1 VAR_050008 Q8IXA5:p.Ala128Thr SP substitution exon 1 VAR_050009 Q9Y4K0:p.Ser308Arg SP substitution exon 1 VAR_050010 Q9Y4K0:p.Ser359Trp SP substitution exon 1 VAR_050012 Q96JB6:p.Arg154Gln SP substitution exon 1 VAR_050013 Q96JB6:p.Asp405Ala SP substitution exon 1 VAR_050015 Q96JB8:p.Val562Ile SP substitution exon 1 VAR_050016 Q969L2:p.Ala92Thr SP substitution exon 1 VAR_050017 P23368:p.Gly450Glu SP substitution exon 1 VAR_050018 Q15555:p.Tyr162Cys SP substitution exon 1 VAR_050019 P11137:p.Glu179Gly SP substitution exon 1 VAR_050020 P11137:p.His976Leu SP substitution exon 1 VAR_050021 P11137:p.Gly991Arg SP substitution exon 1 VAR_050022 P11137:p.Met1099Val SP substitution exon 1 VAR_050023 Q66K74:p.Leu372Val SP substitution exon 1 VAR_050024 Q5VTY9:p.Glu165Gly SP substitution exon 1 VAR_050025 Q6ZNC8:p.Ile450Val SP substitution exon 1 VAR_050027 Q6P1A2:p.Phe63Leu SP substitution exon 1 VAR_050028 Q6P1A2:p.Ile217Thr SP substitution exon 1 VAR_050029 O95711:p.Tyr121Cys SP substitution exon 1 VAR_050030 Q9Y6Y9:p.Arg56Gly SP substitution exon 1 VAR_050031 Q15040:p.Ser48Arg SP substitution exon 1 VAR_050032 P54819:p.Ala209Thr SP substitution exon 1 VAR_050033 Q99707:p.Arg52Gln SP substitution exon 1 VAR_050037 Q6UWJ1:p.Ala443Thr SP substitution exon 1 VAR_050038 Q6UWJ1:p.Ala445Thr SP substitution exon 1 VAR_050039 Q13939:p.Ser75Asn SP substitution exon 1 VAR_050040 O14682:p.Ile256Ser SP substitution exon 1 VAR_050041 Q9H0H3:p.Val250Ile SP substitution exon 1 VAR_050042 Q9H0H3:p.Met257Leu SP substitution exon 1 VAR_050043 P51610:p.Ser2004Ile SP substitution exon 1 VAR_050044 Q9Y5Z7:p.Ala46Ser SP substitution exon 1 VAR_050045 Q9Y573:p.Lys264Arg SP substitution exon 1 VAR_050046 O60662:p.Ala271Thr SP substitution exon 1 VAR_050047 O60662:p.Met481Val SP substitution exon 1 VAR_050048 Q96PQ7:p.Ile10Leu SP substitution exon 1 VAR_050049 Q53G59:p.Pro72Leu SP substitution exon 1 VAR_050050 Q9H511:p.Asn11Ser SP substitution exon 1 VAR_050051 Q9H511:p.Val156Ile SP substitution exon 1 VAR_050052 Q9H511:p.Ala508Thr SP substitution exon 1 VAR_050053 Q96NJ5:p.Arg5Cys SP substitution exon 1 VAR_050054 Q8TBB5:p.Thr102Ile SP substitution exon 1 VAR_050055 Q3ZCT8:p.Gln22Lys SP substitution exon 1 VAR_050056 Q8NEP7:p.Ala282Thr SP substitution exon 1 VAR_050057 Q9UL63:p.Cys469Gly SP substitution exon 1 VAR_050058 Q7Z6M1:p.Pro58Ala SP substitution exon 1 VAR_050059 Q7Z6M1:p.Ser95Cys SP substitution exon 1 VAR_050060 Q14916:p.Ser76Asn SP substitution exon 1 VAR_050061 Q14916:p.Thr269Ile SP substitution exon 1 VAR_050062 P21108:p.Glu279Asp SP substitution exon 1 VAR_050063 Q96PS8:p.His123Tyr SP substitution exon 1 VAR_050065 O43278:p.Tyr123Cys SP substitution exon 1 VAR_050066 O43278:p.Thr142Arg SP substitution exon 1 VAR_050067 O43278:p.Pro337Leu SP substitution exon 1 VAR_050068 Q6UDR6:p.Ala30Glu SP substitution exon 1 VAR_050069 Q6P1M3:p.Arg45His SP substitution exon 1 VAR_050070 Q6P1M3:p.Phe479Leu SP substitution exon 1 VAR_050071 Q6P1M3:p.Pro488Leu SP substitution exon 1 VAR_050072 Q6P1M3:p.Leu490Pro SP substitution exon 1 VAR_050076 Q9Y2K9:p.Thr568Ser SP substitution exon 1 VAR_050077 Q9Y2K9:p.Val855Ile SP substitution exon 1 VAR_050078 Q16787:p.Thr796Asn SP substitution exon 1 VAR_050079 Q16787:p.Val1206Ala SP substitution exon 1 VAR_050080 Q16787:p.Pro1208Thr SP substitution exon 1 VAR_050081 Q13753:p.Ala111Pro SP substitution exon 1 VAR_050082 Q13753:p.Arg115Gln SP substitution exon 1 VAR_050083 Q13753:p.Thr124Met SP substitution exon 1 VAR_050084 Q13753:p.Asp136Val SP substitution exon 1 VAR_050085 Q13753:p.Ser608Ile SP substitution exon 1 VAR_050086 O00634:p.Pro425Ser SP substitution exon 1 VAR_050087 O75445:p.Glu3411Ala SP substitution exon 1 VAR_050088 O75445:p.Thr3835Ile SP substitution exon 1 VAR_050089 O75445:p.Arg4739Lys SP substitution exon 1 VAR_050090 O96033:p.Val51Ala SP substitution exon 1 VAR_050091 O96007:p.Thr50Ala SP substitution exon 1 VAR_050092 O96007:p.Thr77Ala SP substitution exon 1 VAR_050093 O96007:p.His123Tyr SP substitution exon 1 VAR_050094 O96007:p.Asn187Ser SP substitution exon 1 VAR_050095 Q9UBU3:p.Leu72Met SP substitution exon 1 VAR_050096 P29372:p.Gln93Arg SP substitution exon 1 VAR_050097 P46736:p.Ile74Val SP substitution exon 1 VAR_050099 Q9Y5Y2:p.Pro250Ser SP substitution exon 1 VAR_050100 Q9Y5Y2:p.Thr266Met SP substitution exon 1 VAR_050102 Q9NPY3:p.Pro541Ser SP substitution exon 1 VAR_050103 Q13241:p.Ser25Ala SP substitution exon 1 VAR_050104 Q9NNX6:p.Glu168Asp SP substitution exon 1 VAR_050105 Q9NNX6:p.Ala382Ser SP substitution exon 1 VAR_050106 Q8NC01:p.Gly26Ala SP substitution exon 1 VAR_050110 Q9NY25:p.Arg141His SP substitution exon 1 VAR_050111 Q9BXN2:p.Ile223Ser SP substitution exon 1 VAR_050112 Q6UXN8:p.Ala107Gly SP substitution exon 1 VAR_050113 Q8IUN9:p.Arg73Lys SP substitution exon 1 VAR_050114 Q8IUN9:p.Thr100Met SP substitution exon 1 VAR_050115 Q8IUN9:p.Ala203Gly SP substitution exon 1 VAR_050116 Q9Y240:p.Pro104Arg SP substitution exon 1 VAR_050117 Q9Y2Y8:p.Cys3Arg SP substitution exon 1 VAR_050118 Q9Y2Y8:p.Ile109Thr SP substitution exon 1 VAR_050119 P11226:p.Asn214Tyr SP substitution exon 1 VAR_050120 P26715:p.Asn29Ser SP substitution exon 1 VAR_050121 P48304:p.Arg109His SP substitution exon 1 VAR_050122 Q9BYZ8:p.Asn135His SP substitution exon 1 VAR_050123 Q96GW7:p.Ser356Leu SP substitution exon 1 VAR_050124 Q12904:p.Thr117Ala SP substitution exon 1 VAR_050125 Q13155:p.Leu166Ile SP substitution exon 1 VAR_050126 Q9UJS0:p.Glu141Lys SP substitution exon 1 VAR_050127 Q9UJS0:p.Leu232Ile SP substitution exon 1 VAR_050128 Q9Y6C9:p.Arg68Ser SP substitution exon 1 VAR_050130 Q9H2D1:p.Arg117His SP substitution exon 1 VAR_050131 Q9BQT8:p.Trp299Cys SP substitution exon 1 VAR_050132 Q8N5S1:p.Gly144Ser SP substitution exon 1 VAR_050134 Q96H78:p.Ser52Ile SP substitution exon 1 VAR_050136 P55916:p.Val9Met SP substitution exon 1 VAR_050137 O95847:p.Ile197Thr SP substitution exon 1 VAR_050138 O95258:p.Glu55Ala SP substitution exon 1 VAR_050139 O43808:p.His98Arg SP substitution exon 1 VAR_050141 O14639:p.Pro434Thr SP substitution exon 1 VAR_050142 O14639:p.Arg637Gly SP substitution exon 1 VAR_050143 O94929:p.Gly125Asp SP substitution exon 1 VAR_050144 P21291:p.Lys108Ile SP substitution exon 1 VAR_050145 Q8WUP2:p.Arg39Cys SP substitution exon 1 VAR_050146 O75112:p.Pro101Leu SP substitution exon 1 VAR_050147 Q9UGP4:p.Gly36Asp SP substitution exon 1 VAR_050148 P53667:p.Phe580Tyr SP substitution exon 1 VAR_050149 P53671:p.Arg381His SP substitution exon 1 VAR_050150 Q93052:p.Thr146Ala SP substitution exon 1 VAR_050151 Q93052:p.Ser259Pro SP substitution exon 1 VAR_050152 O60711:p.Pro148Thr SP substitution exon 1 VAR_050153 Q8TDZ2:p.Ala12Thr SP substitution exon 1 VAR_050154 Q8TDZ2:p.Asp153Ala SP substitution exon 1 VAR_050155 O94851:p.Phe145Leu SP substitution exon 1 VAR_050156 O94851:p.Asp687Glu SP substitution exon 1 VAR_050158 Q8N3F8:p.His685Arg SP substitution exon 1 VAR_050159 Q8IY33:p.Leu711Val SP substitution exon 1 VAR_050160 Q86VF7:p.Asp484Asn SP substitution exon 1 VAR_050161 Q86VF7:p.Ala647Ser SP substitution exon 1 VAR_050162 Q86VF7:p.Ile1183Val SP substitution exon 1 VAR_050163 Q86VF7:p.Arg1566Cys SP substitution exon 1 VAR_050164 Q86VF7:p.Asp1569Asn SP substitution exon 1 VAR_050165 Q86VF7:p.Ala1643Ser SP substitution exon 1 VAR_050166 Q53GG5:p.Val127Met SP substitution exon 1 VAR_050167 P50479:p.Arg142Cys SP substitution exon 1 VAR_050168 Q9NR12:p.Ala326Thr SP substitution exon 1 VAR_050169 O43900:p.Arg343Cys SP substitution exon 1 VAR_050170 Q9UGI8:p.Ala221Val SP substitution exon 1 VAR_050171 Q15654:p.Val230Ile SP substitution exon 1 VAR_050172 P19652:p.Val99Ala SP substitution exon 1 VAR_050173 P19652:p.Gly141Arg SP substitution exon 1 VAR_050174 P19652:p.Cys167Arg SP substitution exon 1 VAR_050175 P19652:p.Met174Val SP substitution exon 1 VAR_050176 Q9NY56:p.Met159Thr SP substitution exon 1 VAR_050178 P09466:p.Leu28Val SP substitution exon 1 VAR_050181 Q99459:p.Tyr459Cys SP substitution exon 1 VAR_050182 Q6PJG2:p.Ala86Val SP substitution exon 1 VAR_050183 Q6PJG2:p.Pro554Leu SP substitution exon 1 VAR_050184 Q6P0N0:p.Cys164Arg SP substitution exon 1 VAR_050185 Q6P0N0:p.Pro347Arg SP substitution exon 1 VAR_050186 Q6P0N0:p.Glu583Asp SP substitution exon 1 VAR_050187 Q6P0N0:p.Glu851Gln SP substitution exon 1 VAR_050188 P10242:p.Thr336Ile SP substitution exon 1 VAR_050189 P10242:p.Thr422Asn SP substitution exon 1 VAR_050190 P10244:p.Asn341Ser SP substitution exon 1 VAR_050191 P10244:p.Val595Met SP substitution exon 1 VAR_050192 P10244:p.Ile624Met SP substitution exon 1 VAR_050193 Q5SXM2:p.His799Gln SP substitution exon 1 VAR_050194 Q5SXM2:p.Pro1448Ser SP substitution exon 1 VAR_050195 Q9NYB0:p.Lys324Glu SP substitution exon 1 VAR_050196 Q15554:p.Ser413Gly SP substitution exon 1 VAR_050197 Q96PN7:p.Thr431Ala SP substitution exon 1 VAR_050198 Q96PN7:p.Cys834Ser SP substitution exon 1 VAR_050199 Q96PN7:p.Asn1019Thr SP substitution exon 1 VAR_050200 Q96PN7:p.Asp1187Asn SP substitution exon 1 VAR_050201 Q15361:p.Glu473Lys SP substitution exon 1 VAR_050202 P13535:p.Ile326Thr SP substitution exon 1 VAR_050203 P13535:p.Ala636Val SP substitution exon 1 VAR_050204 P13535:p.Met1229Thr SP substitution exon 1 VAR_050205 P35749:p.Ala1104Thr SP substitution exon 1 VAR_050206 P35749:p.Met1508Val SP substitution exon 1 VAR_050207 Q9UBC5:p.Pro426Leu SP substitution exon 1 VAR_050208 Q9UBC5:p.Cys506Ser SP substitution exon 1 VAR_050210 O94832:p.Pro765Ser SP substitution exon 1 VAR_050211 O94832:p.Arg771His SP substitution exon 1 VAR_050214 Q9Y6X6:p.Asp181Glu SP substitution exon 1 VAR_050215 Q9Y6X6:p.Val339Ile SP substitution exon 1 VAR_050216 Q9Y6X6:p.Ile1171Met SP substitution exon 1 VAR_050217 Q8WYB5:p.Val1499Ile SP substitution exon 1 VAR_050218 Q9H009:p.Val64Ile SP substitution exon 1 VAR_050219 Q15274:p.Thr195Ala SP substitution exon 1 VAR_050220 P15559:p.Gln269His SP substitution exon 1 VAR_050221 O60721:p.Thr37Ser SP substitution exon 1 VAR_050222 O60721:p.Val311Leu SP substitution exon 1 VAR_050223 O60721:p.Leu313Val SP substitution exon 1 VAR_050224 Q6J4K2:p.Arg222Cys SP substitution exon 1 VAR_050226 Q9UPR5:p.Val429Leu SP substitution exon 1 VAR_050227 Q96NT1:p.Glu154Gln SP substitution exon 1 VAR_050228 Q9UJ04:p.Arg30Leu SP substitution exon 1 VAR_050229 P09131:p.Val354Ile SP substitution exon 1 VAR_050230 Q5PT55:p.Ile287Thr SP substitution exon 1 VAR_050232 Q8IVB4:p.Ile540Val SP substitution exon 1 VAR_050233 Q4G0N8:p.Ile364Val SP substitution exon 1 VAR_050234 Q92597:p.Met67Val SP substitution exon 1 VAR_050235 Q92597:p.Met111Leu SP substitution exon 1 VAR_050236 Q9UN36:p.Thr45Ser SP substitution exon 1 VAR_050237 Q92979:p.Ala34Gly SP substitution exon 1 VAR_050238 Q8WXH0:p.Ser432Arg SP substitution exon 1 VAR_050239 Q8WXH0:p.Arg1393Trp SP substitution exon 1 VAR_050240 Q8WXH0:p.Met1969Thr SP substitution exon 1 VAR_050241 Q8WXH0:p.Ala2284Val SP substitution exon 1 VAR_050242 Q8WXH0:p.Ala2347Glu SP substitution exon 1 VAR_050243 Q8WXH0:p.Ser2359Gly SP substitution exon 1 VAR_050244 Q8WXH0:p.Ser2359Asn SP substitution exon 1 VAR_050245 Q8WXH0:p.Ala2395Thr SP substitution exon 1 VAR_050246 Q8WXH0:p.Val2490Gly SP substitution exon 1 VAR_050247 Q8WXH0:p.Ile2564Val SP substitution exon 1 VAR_050248 Q8WXH0:p.Ser2802Gly SP substitution exon 1 VAR_050249 Q8WXH0:p.Ile2942Val SP substitution exon 1 VAR_050250 Q8WXH0:p.Glu3026Asp SP substitution exon 1 VAR_050251 Q8WXH0:p.Asn3130Ser SP substitution exon 1 VAR_050252 Q8WXH0:p.Asp3253His SP substitution exon 1 VAR_050253 Q8WXH0:p.His3309Arg SP substitution exon 1 VAR_050254 Q8WXH0:p.Lys3523Gln SP substitution exon 1 VAR_050255 Q8WXH0:p.Asn3982His SP substitution exon 1 VAR_050256 Q8WXH0:p.Arg4041His SP substitution exon 1 VAR_050257 Q8WXH0:p.Pro4912Ala SP substitution exon 1 VAR_050258 Q8WXH0:p.Glu4913Lys SP substitution exon 1 VAR_050259 Q8WXH0:p.His5086Tyr SP substitution exon 1 VAR_050260 Q8WXH0:p.Leu5186Met SP substitution exon 1 VAR_050261 Q8WXH0:p.Asp5547Asn SP substitution exon 1 VAR_050262 Q8WXH0:p.Ala6155Val SP substitution exon 1 VAR_050263 Q8WXH0:p.Lys6681Glu SP substitution exon 1 VAR_050264 Q8WXH0:p.Arg6697Trp SP substitution exon 1 VAR_050265 Q9ULB1:p.Tyr400Asn SP substitution exon 1 VAR_050266 Q9P2S2:p.Leu81Gln SP substitution exon 1 VAR_050267 P78357:p.Val522Leu SP substitution exon 1 VAR_050268 Q9C0A0:p.Gln513His SP substitution exon 1 VAR_050269 Q9C0A0:p.Asp1155Glu SP substitution exon 1 VAR_050270 Q9C0A0:p.Asn1300Ser SP substitution exon 1 VAR_050271 P17677:p.Lys162Glu SP substitution exon 1 VAR_050272 Q14697:p.Arg309Cys SP substitution exon 1 VAR_050273 Q6UB28:p.Gly14Val SP substitution exon 1 VAR_050274 Q92542:p.Val75Ile SP substitution exon 1 VAR_050275 Q92542:p.Glu77Asp SP substitution exon 1 VAR_050276 Q969V3:p.Glu214Asp SP substitution exon 1 VAR_050277 Q9BS92:p.Ala94Pro SP substitution exon 1 VAR_050278 Q9BS92:p.Lys154Glu SP substitution exon 1 VAR_050279 Q9BS92:p.Ala159Gly SP substitution exon 1 VAR_050280 Q9UBR1:p.Ala340Asp SP substitution exon 1 VAR_050281 Q9UJA3:p.Lys101Asn SP substitution exon 1 VAR_050282 Q9UJA3:p.Asn183Ser SP substitution exon 1 VAR_050283 Q9UJA3:p.Glu341Lys SP substitution exon 1 VAR_050284 Q9UJA3:p.Ser365Asn SP substitution exon 1 VAR_050285 Q9UJA3:p.Asn785Ser SP substitution exon 1 VAR_050286 P30419:p.Gln61Lys SP substitution exon 1 VAR_050287 Q9ULX3:p.Arg231Gln SP substitution exon 1 VAR_050288 Q9ULX3:p.Tyr366Phe SP substitution exon 1 VAR_050289 Q9Y3T9:p.Ser556Leu SP substitution exon 1 VAR_050290 Q5VTE6:p.Pro97Ser SP substitution exon 1 VAR_050291 Q13823:p.Gln452His SP substitution exon 1 VAR_050292 Q8N729:p.Asp149Ala SP substitution exon 1 VAR_050293 P42898:p.Arg519His SP substitution exon 1 VAR_050294 P42898:p.Gly566Glu SP substitution exon 1 VAR_050295 Q5JPI9:p.Arg67Gln SP substitution exon 1 VAR_050296 Q9H8H3:p.Ala134Thr SP substitution exon 1 VAR_050297 Q9Y5Y0:p.Ala52Pro SP substitution exon 1 VAR_050298 Q9Y5Y0:p.Thr544Met SP substitution exon 1 VAR_050299 Q9UPI3:p.Ala481Thr SP substitution exon 1 VAR_050300 Q6NUT3:p.Ile203Val SP substitution exon 1 VAR_050301 Q6NUT3:p.Gly395Ser SP substitution exon 1 VAR_050302 Q96NT5:p.Thr295Ala SP substitution exon 1 VAR_050303 Q496J9:p.Thr482Ser SP substitution exon 1 VAR_050304 Q496J9:p.Asp543Asn SP substitution exon 1 VAR_050305 O60906:p.Pro3Leu SP substitution exon 1 VAR_050306 O60906:p.Val223Ile SP substitution exon 1 VAR_050307 Q9Y5L3:p.Ala103Val SP substitution exon 1 VAR_050308 O75356:p.Lys314Arg SP substitution exon 1 VAR_050309 O75354:p.Arg157Gln SP substitution exon 1 VAR_050355 Q30154:p.Met20Thr SP substitution exon 1 VAR_050356 Q30154:p.Arg33Gln SP substitution exon 1 VAR_050357 Q30154:p.Lys41Thr SP substitution exon 1 VAR_050358 Q30154:p.Asn62His SP substitution exon 1 VAR_050359 Q30154:p.Thr106Asn SP substitution exon 1 VAR_050407 Q9BZM6:p.Leu101Ile SP substitution exon 1 VAR_050408 Q8TD07:p.Ala141Thr SP substitution exon 1 VAR_050409 Q8TD07:p.Thr142Ile SP substitution exon 1 VAR_050410 O75607:p.Ser16Asn SP substitution exon 1 VAR_050411 O75607:p.Asn80Ile SP substitution exon 1 VAR_050412 P53370:p.Cys114Arg SP substitution exon 1 VAR_050414 Q9BRQ3:p.Thr129Arg SP substitution exon 1 VAR_050415 P0C024:p.Arg100His SP substitution exon 1 VAR_050416 P0C024:p.Glu181Gly SP substitution exon 1 VAR_050417 Q9NU23:p.Arg34Trp SP substitution exon 1 VAR_050418 Q9NU23:p.Thr60Pro SP substitution exon 1 VAR_050419 Q9H4D5:p.Asn186Ile SP substitution exon 1 VAR_050420 O95190:p.Pro70Leu SP substitution exon 1 VAR_050421 Q9Y236:p.Tyr101His SP substitution exon 1 VAR_050422 Q9Y236:p.Cys319Ser SP substitution exon 1 VAR_050423 O95897:p.Thr127Met SP substitution exon 1 VAR_050424 Q6ZMI3:p.Ser265Asn SP substitution exon 1 VAR_050425 O14841:p.Ser284Arg SP substitution exon 1 VAR_050426 Q13415:p.Met816Thr SP substitution exon 1 VAR_050427 P00966:p.Ser65Ile SP substitution exon 1 VAR_050428 P11717:p.Glu1254Ala SP substitution exon 1 VAR_050429 P11717:p.Thr1395Ser SP substitution exon 1 VAR_050430 P11717:p.Gln1696Arg SP substitution exon 1 VAR_050431 P09486:p.Pro19Ser SP substitution exon 1 VAR_050432 P10451:p.Ser224Asn SP substitution exon 1 VAR_050433 Q8N465:p.Val338Ile SP substitution exon 1 VAR_050434 Q8N465:p.Ala361Val SP substitution exon 1 VAR_050435 Q02218:p.Val1018Ile SP substitution exon 1 VAR_050436 P08559:p.Glu333Asp SP substitution exon 1 VAR_050437 P21953:p.Thr41Ile SP substitution exon 1 VAR_050438 Q8NI08:p.Gly533Arg SP substitution exon 1 VAR_050439 A0PJX2:p.Gly102Arg SP substitution exon 1 VAR_050440 Q9P0L0:p.Met8Thr SP substitution exon 1 VAR_050441 Q9P0L0:p.Pro104Leu SP substitution exon 1 VAR_050442 Q32P28:p.Gln644Lys SP substitution exon 1 VAR_050443 Q8IVL6:p.Thr301Ala SP substitution exon 1 VAR_050444 Q8IVL6:p.Arg304Cys SP substitution exon 1 VAR_050445 Q8IVL6:p.Gly385Glu SP substitution exon 1 VAR_050448 Q9Y3D2:p.Glu46Gly SP substitution exon 1 VAR_050449 Q9H6Z9:p.Val136Leu SP substitution exon 1 VAR_050450 Q9H6Z9:p.Ser234Thr SP substitution exon 1 VAR_050451 Q8TAX7:p.Asn80Lys SP substitution exon 1 VAR_050452 Q8N387:p.Ser19Trp SP substitution exon 1 VAR_050453 Q8TEW0:p.Asp575Asn SP substitution exon 1 VAR_050454 Q9NPB6:p.Val286Ile SP substitution exon 1 VAR_050455 Q6UWV2:p.Val168Gly SP substitution exon 1 VAR_050456 Q6UWV2:p.Val172Met SP substitution exon 1 VAR_050457 P60660:p.Thr85Ile SP substitution exon 1 VAR_050458 P12829:p.Asn186Tyr SP substitution exon 1 VAR_050459 Q02045:p.Phe88Ser SP substitution exon 1 VAR_050460 P09874:p.Phe54Leu SP substitution exon 1 VAR_050461 P09874:p.Pro377Ser SP substitution exon 1 VAR_050462 Q9UGN5:p.Ile331Thr SP substitution exon 1 VAR_050463 Q9H0J9:p.Val293Ile SP substitution exon 1 VAR_050464 Q9H0J9:p.Val463Met SP substitution exon 1 VAR_050465 Q9H0J9:p.Ala620Val SP substitution exon 1 VAR_050467 Q96S96:p.Lys125Glu SP substitution exon 1 VAR_050468 Q96S96:p.Glu211Gly SP substitution exon 1 VAR_050469 Q9UHG3:p.Ser149Phe SP substitution exon 1 VAR_050470 Q9UHG3:p.Thr414Ser SP substitution exon 1 VAR_050472 Q8NBM8:p.Ala316Thr SP substitution exon 1 VAR_050473 Q08493:p.Ser131Leu SP substitution exon 1 VAR_050474 Q08493:p.Arg289Gln SP substitution exon 1 VAR_050475 P51160:p.Ser270Thr SP substitution exon 1 VAR_050476 P51160:p.Glu699Ala SP substitution exon 1 VAR_050477 Q15118:p.Ala134Thr SP substitution exon 1 VAR_050478 Q96RV3:p.Ala594Thr SP substitution exon 1 VAR_050479 A6NKB5:p.Arg117Lys SP substitution exon 1 VAR_050480 P10643:p.Cys128Arg SP substitution exon 1 VAR_050481 P02748:p.Asp127Tyr SP substitution exon 1 VAR_050482 P14222:p.Ala91Val SP substitution exon 1 VAR_050483 Q96Q06:p.Ser659Gly SP substitution exon 1 VAR_050484 Q96Q06:p.Arg1134Cys SP substitution exon 1 VAR_050485 P11678:p.Val35Ile SP substitution exon 1 VAR_050486 P11678:p.Val458Met SP substitution exon 1 VAR_050487 Q92626:p.Arg1198Gln SP substitution exon 1 VAR_050488 A1KZ92:p.Ile343Thr SP substitution exon 1 VAR_050489 A1KZ92:p.Arg583Gln SP substitution exon 1 VAR_050490 A1KZ92:p.Asp616Ala SP substitution exon 1 VAR_050491 A1KZ92:p.Met981Val SP substitution exon 1 VAR_050492 A1KZ92:p.Val1327Asp SP substitution exon 1 VAR_050493 A1KZ92:p.Arg1399Lys SP substitution exon 1 VAR_050494 A1KZ92:p.Asp1452Glu SP substitution exon 1 VAR_050495 O00623:p.Leu245Ile SP substitution exon 1 VAR_050496 P36871:p.Ile88Val SP substitution exon 1 VAR_050497 O75594:p.Val34Gly SP substitution exon 1 VAR_050498 Q96PD5:p.Thr46Ala SP substitution exon 1 VAR_050499 Q96PD5:p.Arg99Gln SP substitution exon 1 VAR_050500 Q96PD5:p.Thr257Asn SP substitution exon 1 VAR_050501 Q96PD5:p.Met270Lys SP substitution exon 1 VAR_050502 Q96PD5:p.Arg476Trp SP substitution exon 1 VAR_050503 Q96LB8:p.Pro3Leu SP substitution exon 1 VAR_050504 Q9NYT0:p.Thr80Met SP substitution exon 1 VAR_050505 Q8N4X5:p.Gly138Arg SP substitution exon 1 VAR_050506 Q8N4X5:p.Ser366Arg SP substitution exon 1 VAR_050507 Q8N4X5:p.Thr522Ser SP substitution exon 1 VAR_050508 Q18PE1:p.Gly379Arg SP substitution exon 1 VAR_050509 Q58EX7:p.Thr412Ile SP substitution exon 1 VAR_050510 Q58EX7:p.Asp525Gly SP substitution exon 1 VAR_050511 Q58EX7:p.Arg830His SP substitution exon 1 VAR_050513 Q6ZR37:p.Asp99Gly SP substitution exon 1 VAR_050514 Q6ZR37:p.Met212Thr SP substitution exon 1 VAR_050515 Q9Y5J5:p.Arg28Gln SP substitution exon 1 VAR_050516 Q8IZC4:p.Lys101Thr SP substitution exon 1 VAR_050517 Q8IZC4:p.His462Arg SP substitution exon 1 VAR_050518 P46019:p.Gly416Arg SP substitution exon 1 VAR_050520 P05187:p.Ile89Leu SP substitution exon 1 VAR_050521 P05187:p.Arg231Pro SP substitution exon 1 VAR_050522 P05187:p.Arg263His SP substitution exon 1 VAR_050523 P05187:p.Glu451Gly SP substitution exon 1 VAR_050524 P09923:p.Arg144His SP substitution exon 1 VAR_050525 Q13371:p.Lys218Asn SP substitution exon 1 VAR_050526 P24666:p.Lys7Asn SP substitution exon 1 VAR_050527 P24666:p.Ser137Phe SP substitution exon 1 VAR_050528 O14832:p.Gly215Ser SP substitution exon 1 VAR_050529 Q5SRE7:p.Arg222Trp SP substitution exon 1 VAR_050530 P42338:p.Gln672His SP substitution exon 1 VAR_050532 Q13535:p.Met211Thr SP substitution exon 1 VAR_050533 Q13535:p.Ile1526Val SP substitution exon 1 VAR_050534 P78527:p.Pro3702Leu SP substitution exon 1 VAR_050535 Q9Y6X2:p.Ser390Cys SP substitution exon 1 VAR_050536 Q8NF64:p.Leu408Phe SP substitution exon 1 VAR_050537 Q96MF7:p.Val66Ala SP substitution exon 1 VAR_050538 P57054:p.Tyr118Cys SP substitution exon 1 VAR_050539 P57054:p.Arg136Ser SP substitution exon 1 VAR_050540 Q9H307:p.Ser441Thr SP substitution exon 1 VAR_050543 O00625:p.Val228Ala SP substitution exon 1 VAR_050544 Q9NTG1:p.Arg528Gln SP substitution exon 1 VAR_050545 Q9NTG1:p.Leu914Pro SP substitution exon 1 VAR_050546 Q9NTG1:p.Thr992Pro SP substitution exon 1 VAR_050547 Q9NTG1:p.Val993Ala SP substitution exon 1 VAR_050548 Q9NTG1:p.Asn1091Ser SP substitution exon 1 VAR_050549 Q9NTG1:p.Asn1411Asp SP substitution exon 1 VAR_050550 Q9NTG1:p.Ile1528Met SP substitution exon 1 VAR_050551 Q9NTG1:p.Val1729Ile SP substitution exon 1 VAR_050552 Q8TDX9:p.Asp812Asn SP substitution exon 1 VAR_050553 Q8TDX9:p.Thr879Ala SP substitution exon 1 VAR_050554 Q8TDX9:p.Ala2685Thr SP substitution exon 1 VAR_050555 Q9P0L9:p.Arg278Gln SP substitution exon 1 VAR_050556 Q9P0L9:p.Arg378Trp SP substitution exon 1 VAR_050557 Q9P0L9:p.Ala788Asp SP substitution exon 1 VAR_050559 Q02156:p.Ala654Thr SP substitution exon 1 VAR_050560 Q05513:p.Arg49His SP substitution exon 1 VAR_050561 O94806:p.Pro225Ser SP substitution exon 1 VAR_050562 Q16513:p.Glu94Asp SP substitution exon 1 VAR_050563 Q16513:p.Ala197Glu SP substitution exon 1 VAR_050565 Q6P5Z2:p.Val404Leu SP substitution exon 1 VAR_050566 O95081:p.Thr365Asn SP substitution exon 1 VAR_050567 Q92621:p.Pro33Ser SP substitution exon 1 VAR_050568 Q92621:p.Glu1356Gln SP substitution exon 1 VAR_050569 Q9H1M0:p.Phe54Leu SP substitution exon 1 VAR_050570 Q9BVL2:p.Ala34Thr SP substitution exon 1 VAR_050571 Q9BVL2:p.Ser166Pro SP substitution exon 1 VAR_050572 O15504:p.Asp391Asn SP substitution exon 1 VAR_050573 O15504:p.Lys392Asn SP substitution exon 1 VAR_050574 Q5VU65:p.Val1491Ile SP substitution exon 1 VAR_050575 P49792:p.Ser725Gly SP substitution exon 1 VAR_050576 P49792:p.Pro1892Arg SP substitution exon 1 VAR_050577 P10828:p.Asp216Gly SP substitution exon 1 VAR_050580 Q13133:p.Gly52Val SP substitution exon 1 VAR_050581 O75469:p.Ala12Thr SP substitution exon 1 VAR_050582 P19793:p.Ala327Ser SP substitution exon 1 VAR_050584 Q15466:p.Gly171Ala SP substitution exon 1 VAR_050585 Q9HCL2:p.Ser4Tyr SP substitution exon 1 VAR_050586 Q9HCL2:p.Ile43Val SP substitution exon 1 VAR_050587 Q9HCL2:p.Glu131Gly SP substitution exon 1 VAR_050588 Q9HCL2:p.Ile386Thr SP substitution exon 1 VAR_050589 O95182:p.Pro66Ala SP substitution exon 1 VAR_050590 O43674:p.Tyr133His SP substitution exon 1 VAR_050591 P17568:p.Arg106Gly SP substitution exon 1 VAR_050592 P45983:p.Glu365Lys SP substitution exon 1 VAR_050595 P51805:p.Gly384Ser SP substitution exon 1 VAR_050596 P51805:p.Gly413Ser SP substitution exon 1 VAR_050597 P51805:p.Asp863Glu SP substitution exon 1 VAR_050598 O43157:p.Arg389Trp SP substitution exon 1 VAR_050599 O43157:p.Ser753Leu SP substitution exon 1 VAR_050600 O15031:p.Lys318Glu SP substitution exon 1 VAR_050601 Q9ULL4:p.Ala126Thr SP substitution exon 1 VAR_050602 O60486:p.Glu1499Lys SP substitution exon 1 VAR_050603 Q14956:p.Ser294Phe SP substitution exon 1 VAR_050604 Q14956:p.Pro324Leu SP substitution exon 1 VAR_050605 Q14956:p.Ser538Arg SP substitution exon 1 VAR_050606 P40967:p.Pro320His SP substitution exon 1 VAR_050607 P40967:p.Glu370Asp SP substitution exon 1 VAR_050608 P54849:p.Ser57Asn SP substitution exon 1 VAR_050609 P54852:p.Ile125Val SP substitution exon 1 VAR_050610 Q8TCS8:p.Glu230Gln SP substitution exon 1 VAR_050611 Q96A70:p.Ala288Ser SP substitution exon 1 VAR_050612 P04000:p.Ile274Val SP substitution exon 1 VAR_050613 Q9H1Y3:p.Ala167Val SP substitution exon 1 VAR_050614 Q9H1Y3:p.Val183Ile SP substitution exon 1 VAR_050615 P01298:p.Glu78Gly SP substitution exon 1 VAR_050616 Q8IY26:p.Ser7Gly SP substitution exon 1 VAR_050617 Q8IY26:p.Met8Thr SP substitution exon 1 VAR_050618 Q7Z2D5:p.Gln2Lys SP substitution exon 1 VAR_050619 Q7Z2D5:p.Ala32Val SP substitution exon 1 VAR_050620 P49593:p.Arg132Cys SP substitution exon 1 VAR_050621 Q8N3J5:p.Glu321Lys SP substitution exon 1 VAR_050623 P26885:p.Arg7Gln SP substitution exon 1 VAR_050624 Q02790:p.Thr436Pro SP substitution exon 1 VAR_050625 Q96AY3:p.Lys197Arg SP substitution exon 1 VAR_050626 Q9NZN9:p.Val33Ala SP substitution exon 1 VAR_050627 Q9NZN9:p.Tyr134Phe SP substitution exon 1 VAR_050628 O60831:p.Leu56Phe SP substitution exon 1 VAR_050629 P02750:p.Gly64Ser SP substitution exon 1 VAR_050630 Q8N2K0:p.Ala349Thr SP substitution exon 1 VAR_050631 O00400:p.Asp171Gly SP substitution exon 1 VAR_050632 Q9UKV3:p.Arg257Lys SP substitution exon 1 VAR_050633 Q8NEB7:p.Thr336Ala SP substitution exon 1 VAR_050634 Q96QF7:p.Arg471His SP substitution exon 1 VAR_050635 Q8IVF2:p.Thr525Ala SP substitution exon 1 VAR_050636 Q8IVF2:p.Met2107Val SP substitution exon 1 VAR_050637 Q8IVF2:p.Lys2410Arg SP substitution exon 1 VAR_050638 Q8IVF2:p.Val3796Leu SP substitution exon 1 VAR_050639 Q8IVF2:p.Met3961Val SP substitution exon 1 VAR_050640 Q8IVF2:p.Ile4071Met SP substitution exon 1 VAR_050641 Q8IVF2:p.Phe4138Leu SP substitution exon 1 VAR_050642 Q8IVF2:p.Lys4232Asn SP substitution exon 1 VAR_050643 Q8IVF2:p.Val4278Ala SP substitution exon 1 VAR_050644 Q8IVF2:p.Met4536Leu SP substitution exon 1 VAR_050645 Q8IVF2:p.Thr4664Ala SP substitution exon 1 VAR_050646 Q8IVF2:p.Gly5072Arg SP substitution exon 1 VAR_050647 Q8IVF2:p.Tyr5184Asp SP substitution exon 1 VAR_050648 Q8IVF2:p.Pro5397Ala SP substitution exon 1 VAR_050650 Q9NZD4:p.Pro100Thr SP substitution exon 1 VAR_050651 Q9BRQ8:p.Met135Thr SP substitution exon 1 VAR_050652 Q9BRQ8:p.Asp288Asn SP substitution exon 1 VAR_050653 Q13023:p.Asn558Asp SP substitution exon 1 VAR_050654 Q13023:p.Glu892Lys SP substitution exon 1 VAR_050655 Q13023:p.Thr1516Ala SP substitution exon 1 VAR_050656 Q13023:p.Val1522Ile SP substitution exon 1 VAR_050657 Q13023:p.Glu2267Asp SP substitution exon 1 VAR_050658 P35858:p.Leu97Phe SP substitution exon 1 VAR_050659 P35858:p.Pro307Leu SP substitution exon 1 VAR_050660 P30533:p.Asn114Ser SP substitution exon 1 VAR_050661 Q6UX39:p.Asn45Ser SP substitution exon 1 VAR_050662 Q6UX39:p.Ser50Pro SP substitution exon 1 VAR_050663 P28039:p.Asp28Asn SP substitution exon 1 VAR_050664 Q02410:p.Ser184Ala SP substitution exon 1 VAR_050665 Q99767:p.Leu311Pro SP substitution exon 1 VAR_050666 O96018:p.Trp154Leu SP substitution exon 1 VAR_050667 Q8J025:p.Val150Ile SP substitution exon 1 VAR_050668 Q8NCL9:p.Arg83Gln SP substitution exon 1 VAR_050669 Q5W041:p.Glu345Gly SP substitution exon 1 VAR_050670 Q5W041:p.Ser608Pro SP substitution exon 1 VAR_050672 Q5T2S8:p.Ile343Thr SP substitution exon 1 VAR_050674 Q96C12:p.Ile170Val SP substitution exon 1 VAR_050675 Q9H1I8:p.Arg96Cys SP substitution exon 1 VAR_050676 Q9H1I8:p.Val123Ile SP substitution exon 1 VAR_050677 Q9H1I8:p.Asp546Gly SP substitution exon 1 VAR_050678 Q9H1I8:p.Glu588Lys SP substitution exon 1 VAR_050679 Q9UBL3:p.Ser478Phe SP substitution exon 1 VAR_050680 P26436:p.Gly126Arg SP substitution exon 1 VAR_050681 O43313:p.Ser240Pro SP substitution exon 1 VAR_050682 O43313:p.Lys305Glu SP substitution exon 1 VAR_050683 Q8WXE1:p.Lys125Gln SP substitution exon 1 VAR_050684 Q8WXE1:p.Pro240Leu SP substitution exon 1 VAR_050685 Q9P281:p.Arg2479Cys SP substitution exon 1 VAR_050687 O94812:p.Ser879Ile SP substitution exon 1 VAR_050688 Q9NQ31:p.Ile132Thr SP substitution exon 1 VAR_050689 O75815:p.Glu464Gly SP substitution exon 1 VAR_050691 O75363:p.Gln472His SP substitution exon 1 VAR_050692 Q9NYF8:p.Ser209Cys SP substitution exon 1 VAR_050693 Q9NYF8:p.Tyr459Asp SP substitution exon 1 VAR_050694 Q9NYF8:p.Leu461His SP substitution exon 1 VAR_050695 Q9NYF8:p.Asn629Ser SP substitution exon 1 VAR_050696 Q9NYF8:p.Arg875Cys SP substitution exon 1 VAR_050697 Q6DHV5:p.Asn64Asp SP substitution exon 1 VAR_050698 Q6DHV5:p.Tyr237His SP substitution exon 1 VAR_050699 Q6DHV5:p.Gln322Leu SP substitution exon 1 VAR_050700 Q9UKL3:p.Pro1659Ser SP substitution exon 1 VAR_050701 Q96LT6:p.Leu146Phe SP substitution exon 1 VAR_050703 Q5T3J3:p.Ala438Thr SP substitution exon 1 VAR_050704 Q66K80:p.Arg231Ser SP substitution exon 1 VAR_050705 Q5T1B0:p.Ile522Leu SP substitution exon 1 VAR_050706 Q5T1B0:p.Gln993Glu SP substitution exon 1 VAR_050707 Q9H425:p.Ala274Ser SP substitution exon 1 VAR_050708 Q9H425:p.Lys306Arg SP substitution exon 1 VAR_050709 O75952:p.Ile186Val SP substitution exon 1 VAR_050710 P49069:p.Gly100Ser SP substitution exon 1 VAR_050711 Q5H9S7:p.His185Gln SP substitution exon 1 VAR_050712 Q9NWW7:p.Gln314Pro SP substitution exon 1 VAR_050713 Q96LS8:p.Trp119Ser SP substitution exon 1 VAR_050714 Q08AI8:p.Ala170Thr SP substitution exon 1 VAR_050715 Q8N801:p.Leu17Met SP substitution exon 1 VAR_050716 Q8N801:p.Gln31Arg SP substitution exon 1 VAR_050717 Q0P641:p.Arg82His SP substitution exon 1 VAR_050718 Q0P641:p.Cys130Arg SP substitution exon 1 VAR_050719 Q0P641:p.Ser152Gly SP substitution exon 1 VAR_050720 Q8N3R3:p.His4Pro SP substitution exon 1 VAR_050721 Q147U7:p.His20Tyr SP substitution exon 1 VAR_050722 Q147U7:p.Arg64Trp SP substitution exon 1 VAR_050723 A1A4F0:p.Val4Leu SP substitution exon 1 VAR_050724 Q6ZUJ4:p.Glu110Lys SP substitution exon 1 VAR_050725 Q96G28:p.Glu6Asp SP substitution exon 1 VAR_050726 Q6ZU64:p.Val672Ile SP substitution exon 1 VAR_050727 Q6ZU64:p.Lys806Met SP substitution exon 1 VAR_050728 Q6ZU64:p.Asn1858Ser SP substitution exon 1 VAR_050729 Q8TBZ0:p.Pro209Gln SP substitution exon 1 VAR_050730 Q8TBZ0:p.Leu299Met SP substitution exon 1 VAR_050731 Q8TBZ0:p.Leu382Met SP substitution exon 1 VAR_050732 Q8TBZ0:p.Ser409Phe SP substitution exon 1 VAR_050733 Q8TBZ0:p.Ile614Met SP substitution exon 1 VAR_050734 Q8TBZ0:p.Gln669Arg SP substitution exon 1 VAR_050735 Q8TBZ0:p.Ser817Leu SP substitution exon 1 VAR_050736 Q8TBZ0:p.Leu819Met SP substitution exon 1 VAR_050737 Q96BQ5:p.Arg60His SP substitution exon 1 VAR_050738 Q8IY82:p.Leu120Met SP substitution exon 1 VAR_050739 Q6PK04:p.His127Gln SP substitution exon 1 VAR_050740 Q6PK04:p.Arg177Trp SP substitution exon 1 VAR_050741 Q6PK04:p.Arg229Gln SP substitution exon 1 VAR_050742 Q8IYE0:p.Asn345Ser SP substitution exon 1 VAR_050744 Q8IWP9:p.Ser42Tyr SP substitution exon 1 VAR_050745 Q8IWP9:p.Pro82Leu SP substitution exon 1 VAR_050746 Q96M91:p.Arg231Cys SP substitution exon 1 VAR_050747 Q96M91:p.Glu294Lys SP substitution exon 1 VAR_050748 Q0P6D6:p.Gly529Asp SP substitution exon 1 VAR_050749 Q0P6D6:p.Cys813Arg SP substitution exon 1 VAR_050750 Q96HJ3:p.His192Asn SP substitution exon 1 VAR_050752 Q8N8E3:p.Lys551Glu SP substitution exon 1 VAR_050753 Q9HA90:p.Arg528Gln SP substitution exon 1 VAR_050754 Q8IVM0:p.Leu121Phe SP substitution exon 1 VAR_050755 Q8IVM0:p.Met156Thr SP substitution exon 1 VAR_050756 Q8N0Z3:p.Leu275Val SP substitution exon 1 VAR_050757 Q8N0Z3:p.Arg472Gly SP substitution exon 1 VAR_050758 Q8NA47:p.Leu212Ser SP substitution exon 1 VAR_050759 Q05D60:p.Ser175Phe SP substitution exon 1 VAR_050760 Q05D60:p.Glu440Gln SP substitution exon 1 VAR_050762 Q9H2F9:p.Val249Ala SP substitution exon 1 VAR_050763 Q6NSX1:p.Arg126Cys SP substitution exon 1 VAR_050764 Q8N4S0:p.Lys128Arg SP substitution exon 1 VAR_050765 Q53HC0:p.Ala253Thr SP substitution exon 1 VAR_050766 Q96M83:p.Lys449Thr SP substitution exon 1 VAR_050767 Q9Y3X0:p.Leu478Pro SP substitution exon 1 VAR_050768 Q9BSQ5:p.Ser289Asn SP substitution exon 1 VAR_050769 Q63HQ0:p.Thr297Ile SP substitution exon 1 VAR_050770 Q8IY42:p.Asp39Glu SP substitution exon 1 VAR_050772 O95400:p.Gly231Asp SP substitution exon 1 VAR_050773 O95400:p.Thr262Ile SP substitution exon 1 VAR_050774 P28906:p.Ala367Ser SP substitution exon 1 VAR_050775 P31358:p.Asn40Ser SP substitution exon 1 VAR_050776 Q96GN5:p.Arg187Ser SP substitution exon 1 VAR_050777 Q96FF9:p.Ser156Tyr SP substitution exon 1 VAR_050778 Q8NA72:p.Ala446Thr SP substitution exon 1 VAR_050779 O94986:p.Ser793Ile SP substitution exon 1 VAR_050780 O94986:p.Leu914Val SP substitution exon 1 VAR_050781 O94986:p.Val1106Ala SP substitution exon 1 VAR_050790 Q9BXW7:p.Thr179Met SP substitution exon 1 VAR_050791 Q9BXW7:p.Arg416Cys SP substitution exon 1 VAR_050792 Q6PRD7:p.Lys55Glu SP substitution exon 1 VAR_050793 Q9NVX0:p.Thr76Pro SP substitution exon 1 VAR_050794 Q76N32:p.Arg27Gly SP substitution exon 1 VAR_050795 Q76N32:p.Leu397Pro SP substitution exon 1 VAR_050796 Q76N32:p.Arg462Cys SP substitution exon 1 VAR_050797 Q76N32:p.Glu473Gln SP substitution exon 1 VAR_050798 Q9P209:p.Pro238Leu SP substitution exon 1 VAR_050799 Q9P209:p.Pro412Thr SP substitution exon 1 VAR_050800 Q9P209:p.Thr509Ala SP substitution exon 1 VAR_050803 Q9GZU0:p.Trp116Cys SP substitution exon 1 VAR_050804 Q9GZU0:p.Arg140Ser SP substitution exon 1 VAR_050805 Q8IYT3:p.Asn479Lys SP substitution exon 1 VAR_050806 Q8IYT3:p.Arg553Gln SP substitution exon 1 VAR_050807 Q5T5N4:p.Arg166Leu SP substitution exon 1 VAR_050808 Q5T5N4:p.Gly271Glu SP substitution exon 1 VAR_050809 Q5T5N4:p.Thr301Met SP substitution exon 1 VAR_050810 Q5T5N4:p.Arg385Gln SP substitution exon 1 VAR_050811 Q8N884:p.Thr35Asn SP substitution exon 1 VAR_050812 Q6IEG0:p.Arg281Gln SP substitution exon 1 VAR_050813 Q96MT4:p.Ile2Phe SP substitution exon 1 VAR_050814 Q96MT4:p.Pro43Ser SP substitution exon 1 VAR_050815 Q9H1X1:p.Val261Ile SP substitution exon 1 VAR_050816 Q8N319:p.Lys48Glu SP substitution exon 1 VAR_050817 Q8WVR3:p.Arg295His SP substitution exon 1 VAR_050819 Q9NR00:p.Val10Ile SP substitution exon 1 VAR_050823 Q15884:p.Arg261Lys SP substitution exon 1 VAR_050824 Q5T8R8:p.Leu43Arg SP substitution exon 1 VAR_050825 Q5T8R8:p.Arg178Gln SP substitution exon 1 VAR_050826 Q5T8R8:p.Arg231Gly SP substitution exon 1 VAR_050827 Q96LT7:p.Asn207Ser SP substitution exon 1 VAR_050828 Q9NZ63:p.Gln70His SP substitution exon 1 VAR_050829 Q5VXU9:p.Thr226Ser SP substitution exon 1 VAR_050830 Q5VXU9:p.His416Arg SP substitution exon 1 VAR_050831 Q5VXU9:p.Ile649Thr SP substitution exon 1 VAR_050832 Q5VXU9:p.Met734Leu SP substitution exon 1 VAR_050833 Q5VXU9:p.Arg788Lys SP substitution exon 1 VAR_050834 Q5VXU9:p.Asn809Lys SP substitution exon 1 VAR_050835 Q5VXU9:p.Tyr932Cys SP substitution exon 1 VAR_050836 Q5VXU9:p.Leu968Pro SP substitution exon 1 VAR_050837 Q5VXU9:p.Ile1162Thr SP substitution exon 1 VAR_050838 Q5VXU9:p.Glu1174Gly SP substitution exon 1 VAR_050839 Q5VXU9:p.Asn1380Lys SP substitution exon 1 VAR_050840 Q5VXU9:p.Arg1425Cys SP substitution exon 1 VAR_050841 Q6TFL3:p.Cys821Tyr SP substitution exon 1 VAR_050842 Q5T7W7:p.Arg83Gln SP substitution exon 1 VAR_050843 Q5T7W7:p.Ala109Asp SP substitution exon 1 VAR_050844 Q5T280:p.Ala63Val SP substitution exon 1 VAR_050845 Q5JU67:p.Tyr483Ser SP substitution exon 1 VAR_050846 Q8N655:p.Glu396Gly SP substitution exon 1 VAR_050847 Q8N655:p.Thr556Pro SP substitution exon 1 VAR_050848 Q5VWN6:p.Cys499Gly SP substitution exon 1 VAR_050849 Q5VWN6:p.Ala630Asp SP substitution exon 1 VAR_050850 Q5VWN6:p.Val1206Met SP substitution exon 1 VAR_050854 Q8WW14:p.Thr124Met SP substitution exon 1 VAR_050855 Q96M02:p.Met57Ile SP substitution exon 1 VAR_050856 Q96M02:p.Asp531Glu SP substitution exon 1 VAR_050857 Q8N326:p.Arg70Lys SP substitution exon 1 VAR_050858 Q5VZT2:p.Arg72Gly SP substitution exon 1 VAR_050859 Q5SQS8:p.Thr20Lys SP substitution exon 1 VAR_050860 Q5SQS8:p.Ala269Thr SP substitution exon 1 VAR_050861 Q9H5F2:p.Lys49Gln SP substitution exon 1 VAR_050862 Q9H5F2:p.Gln85His SP substitution exon 1 VAR_050863 Q6NUN7:p.His486Arg SP substitution exon 1 VAR_050864 Q9NVM9:p.Met66Thr SP substitution exon 1 VAR_050865 Q96K30:p.Ser113Trp SP substitution exon 1 VAR_050866 Q96JQ2:p.Pro963Leu SP substitution exon 1 VAR_050867 Q9HAW4:p.Pro892Thr SP substitution exon 1 VAR_050868 Q9HAW4:p.Ser1280Leu SP substitution exon 1 VAR_050869 Q96AJ1:p.Ala68Ser SP substitution exon 1 VAR_050875 Q9H972:p.Ala190Val SP substitution exon 1 VAR_050876 Q9H8Y1:p.Leu53Phe SP substitution exon 1 VAR_050877 Q8N137:p.Arg439Gln SP substitution exon 1 VAR_050878 Q9NZP6:p.Pro34Gln SP substitution exon 1 VAR_050879 Q9NZP6:p.Trp152Arg SP substitution exon 1 VAR_050880 Q9NZP6:p.Pro343Ala SP substitution exon 1 VAR_050881 Q9NZP6:p.Ala757Thr SP substitution exon 1 VAR_050882 Q9NZP6:p.Thr929Pro SP substitution exon 1 VAR_050884 Q32M92:p.Ala17Thr SP substitution exon 1 VAR_050885 Q8NBB2:p.Val62Ala SP substitution exon 1 VAR_050886 Q7Z2Z1:p.Arg287Cys SP substitution exon 1 VAR_050887 Q7Z2Z1:p.Arg402Trp SP substitution exon 1 VAR_050888 Q7Z2Z1:p.Val747Ala SP substitution exon 1 VAR_050889 Q7Z2Z1:p.Ser923Cys SP substitution exon 1 VAR_050890 Q7Z2Z1:p.Arg1523Cys SP substitution exon 1 VAR_050891 Q7Z2Z1:p.Ser1718Thr SP substitution exon 1 VAR_050892 Q7Z2Z1:p.Arg1885Cys SP substitution exon 1 VAR_050893 Q7Z4M0:p.Val148Met SP substitution exon 1 VAR_050894 O75128:p.Pro526Leu SP substitution exon 1 VAR_050895 O75128:p.His919Gln SP substitution exon 1 VAR_050896 O43405:p.Glu518Gly SP substitution exon 1 VAR_050897 Q96N06:p.Ser45Leu SP substitution exon 1 VAR_050898 Q9BV73:p.Gln1072Glu SP substitution exon 1 VAR_050899 Q8WW18:p.Asp22Glu SP substitution exon 1 VAR_050903 Q8IYD9:p.Arg147Pro SP substitution exon 1 VAR_050904 Q8IYD9:p.Cys196Phe SP substitution exon 1 VAR_050905 P23508:p.Lys190Arg SP substitution exon 1 VAR_050906 Q9UGL9:p.Cys96Tyr SP substitution exon 1 VAR_050907 Q9NZV1:p.Glu502Lys SP substitution exon 1 VAR_050908 Q8N1N5:p.Val120Met SP substitution exon 1 VAR_050909 Q8NEA5:p.His208Tyr SP substitution exon 1 VAR_050910 Q8IVT2:p.Ser269Asn SP substitution exon 1 VAR_050911 Q1ZYL8:p.Phe38Leu SP substitution exon 1 VAR_050912 Q6UXV1:p.Arg139Cys SP substitution exon 1 VAR_050917 Q7Z408:p.Leu2661Val SP substitution exon 1 VAR_050918 Q5JX69:p.Gln74Lys SP substitution exon 1 VAR_050919 Q9BR26:p.Pro565Ser SP substitution exon 1 VAR_050920 Q9H3Z7:p.Leu10Gln SP substitution exon 1 VAR_050921 Q9BQM9:p.Gln62Arg SP substitution exon 1 VAR_050922 Q9NTX9:p.Tyr380Cys SP substitution exon 1 VAR_050923 Q5TEA3:p.Thr481Pro SP substitution exon 1 VAR_050924 Q5TEA3:p.Arg577Gly SP substitution exon 1 VAR_050925 Q9P2B4:p.Val296Met SP substitution exon 1 VAR_050926 Q9P2B4:p.Ser409Gly SP substitution exon 1 VAR_050927 O43822:p.Gly153Ser SP substitution exon 1 VAR_050928 Q9Y426:p.Val211Ala SP substitution exon 1 VAR_050933 Q9NWM3:p.Arg169His SP substitution exon 1 VAR_050934 Q9Y442:p.His11Leu SP substitution exon 1 VAR_050935 Q8NDZ0:p.Ser188Phe SP substitution exon 1 VAR_050936 Q8TB03:p.Thr176Ala SP substitution exon 1 VAR_050937 P35663:p.Asp399His SP substitution exon 1 VAR_050938 Q14093:p.Asp146Tyr SP substitution exon 1 VAR_050939 Q14093:p.Gly184Asp SP substitution exon 1 VAR_050940 Q9NRR1:p.Ser51Leu SP substitution exon 1 VAR_050941 Q9NRR1:p.Arg136Cys SP substitution exon 1 VAR_050942 P98082:p.Ser634Asn SP substitution exon 1 VAR_050943 P59103:p.Lys62Glu SP substitution exon 1 VAR_050944 Q96PD2:p.Ile144Met SP substitution exon 1 VAR_050945 Q96PD2:p.Asp723Asn SP substitution exon 1 VAR_050946 Q9UHG0:p.Pro152Ala SP substitution exon 1 VAR_050947 Q9UHG0:p.Lys456Asn SP substitution exon 1 VAR_050948 Q9P2X7:p.Ala60Val SP substitution exon 1 VAR_050949 P35659:p.Val140Ala SP substitution exon 1 VAR_050950 Q9H6A0:p.Ser282Asn SP substitution exon 1 VAR_050951 Q9NTK1:p.Ile44Met SP substitution exon 1 VAR_050952 Q8WYQ5:p.Ile174Val SP substitution exon 1 VAR_050954 Q9NRI5:p.Leu330Phe SP substitution exon 1 VAR_050955 Q6XZF7:p.Glu81Asp SP substitution exon 1 VAR_050956 Q6XZF7:p.Asn373Lys SP substitution exon 1 VAR_050957 Q6XZF7:p.Asn914Lys SP substitution exon 1 VAR_050958 Q9UKG1:p.Ala108Val SP substitution exon 1 VAR_050960 A2CJ06:p.Tyr241Cys SP substitution exon 1 VAR_050961 A2CJ06:p.Gln474Lys SP substitution exon 1 VAR_050962 Q9H1Z8:p.Ala52Thr SP substitution exon 1 VAR_050963 Q8WWZ3:p.Met9Ile SP substitution exon 1 VAR_050964 Q8N6I1:p.Glu60Ala SP substitution exon 1 VAR_050965 Q8IYF1:p.Arg179Pro SP substitution exon 1 VAR_050966 Q8IYF1:p.Cys254Phe SP substitution exon 1 VAR_050967 Q8IYF1:p.Ala403Ser SP substitution exon 1 VAR_050968 Q14507:p.Gly62Cys SP substitution exon 1 VAR_050969 Q7L775:p.Val333Phe SP substitution exon 1 VAR_050970 Q7L775:p.Ala360Ser SP substitution exon 1 VAR_050973 O15083:p.Asn542Ser SP substitution exon 1 VAR_050974 Q86X53:p.Arg403Ser SP substitution exon 1 VAR_050975 Q9UJM3:p.Ile158Leu SP substitution exon 1 VAR_050976 Q8TE67:p.Met35Ile SP substitution exon 1 VAR_050978 Q86US8:p.Asn575Ser SP substitution exon 1 VAR_050979 Q86US8:p.Arg984Cys SP substitution exon 1 VAR_050980 Q9NVH0:p.Asp106Asn SP substitution exon 1 VAR_050982 O15360:p.Thr131Ser SP substitution exon 1 VAR_050983 O15360:p.Ser176Phe SP substitution exon 1 VAR_050984 O15360:p.Ala277Gly SP substitution exon 1 VAR_050985 O15360:p.Gln286Arg SP substitution exon 1 VAR_050986 O15360:p.Ala412Val SP substitution exon 1 VAR_050987 O15360:p.Pro643Ala SP substitution exon 1 VAR_050988 Q9NPI8:p.Val295Ile SP substitution exon 1 VAR_050989 Q9BTP7:p.Ser126Phe SP substitution exon 1 VAR_050990 Q9C0D6:p.Arg639Cys SP substitution exon 1 VAR_050991 O43427:p.Arg152Trp SP substitution exon 1 VAR_050992 O43427:p.Met351Val SP substitution exon 1 VAR_050993 Q4L180:p.Arg168His SP substitution exon 1 VAR_050994 Q4L180:p.Ala884Pro SP substitution exon 1 VAR_050996 O43155:p.Arg486Gln SP substitution exon 1 VAR_050997 Q9NZU0:p.Ala377Thr SP substitution exon 1 VAR_050998 Q9NZU0:p.Glu460Asp SP substitution exon 1 VAR_050999 Q8TC99:p.Ala127Thr SP substitution exon 1 VAR_051000 O95684:p.Lys271Asn SP substitution exon 1 VAR_051001 A1L4K1:p.Lys333Thr SP substitution exon 1 VAR_051002 A1L4K1:p.Glu720Lys SP substitution exon 1 VAR_051005 P16383:p.Pro32Ala SP substitution exon 1 VAR_051006 P16383:p.Asn249Ser SP substitution exon 1 VAR_051007 P16383:p.Gln316Glu SP substitution exon 1 VAR_051010 P35573:p.Ala1207Thr SP substitution exon 1 VAR_051011 Q9NWZ8:p.Glu195Val SP substitution exon 1 VAR_051012 Q86XP6:p.Ser113Asn SP substitution exon 1 VAR_051014 Q9BRR8:p.Leu520Ser SP substitution exon 1 VAR_051015 Q96I76:p.Asn234Ser SP substitution exon 1 VAR_051016 Q9BQQ3:p.Thr425Met SP substitution exon 1 VAR_051017 O60269:p.Leu39Val SP substitution exon 1 VAR_051018 O60269:p.Ser104Gly SP substitution exon 1 VAR_051019 Q6ZVF9:p.Leu39Val SP substitution exon 1 VAR_051020 Q6ZVF9:p.Ala378Val SP substitution exon 1 VAR_051021 Q6ZVF9:p.Ser382Pro SP substitution exon 1 VAR_051022 Q6ZVF9:p.Pro390Ser SP substitution exon 1 VAR_051023 Q6ZVF9:p.Val446Ala SP substitution exon 1 VAR_051024 Q6ZVF9:p.Arg746Lys SP substitution exon 1 VAR_051025 O96001:p.Leu10Arg SP substitution exon 1 VAR_051026 P78347:p.Leu174Val SP substitution exon 1 VAR_051027 Q6WQI6:p.Trp37Arg SP substitution exon 1 VAR_051028 Q9NWT6:p.Pro41Ala SP substitution exon 1 VAR_051029 O75146:p.Lys404Gln SP substitution exon 1 VAR_051030 O75146:p.Lys516Gln SP substitution exon 1 VAR_051032 O00291:p.Met263Lys SP substitution exon 1 VAR_051033 Q9BW71:p.Ala496Val SP substitution exon 1 VAR_051034 O43159:p.Ala145Pro SP substitution exon 1 VAR_051035 O43159:p.Pro329Ser SP substitution exon 1 VAR_051059 P34913:p.Lys55Arg SP substitution exon 1 VAR_051060 Q5TEJ8:p.Val431Leu SP substitution exon 1 VAR_051061 Q5TEJ8:p.Lys511Glu SP substitution exon 1 VAR_051062 Q96LB3:p.Ile55Met SP substitution exon 1 VAR_051063 Q96LB3:p.Thr110Ala SP substitution exon 1 VAR_051064 Q96LB3:p.Phe224Leu SP substitution exon 1 VAR_051065 Q96LB3:p.Asn355Thr SP substitution exon 1 VAR_051066 Q96LB3:p.Thr597Ile SP substitution exon 1 VAR_051067 Q70UQ0:p.Gly265Ser SP substitution exon 1 VAR_051068 Q16891:p.Ala294Val SP substitution exon 1 VAR_051069 Q17R60:p.Gly463Val SP substitution exon 1 VAR_051070 Q17R60:p.Lys569Arg SP substitution exon 1 VAR_051071 Q17R60:p.Arg711His SP substitution exon 1 VAR_051072 Q17R60:p.Ser761Asn SP substitution exon 1 VAR_051073 Q1MX18:p.Asp333Asn SP substitution exon 1 VAR_051074 Q15051:p.Phe142Leu SP substitution exon 1 VAR_051075 Q15051:p.Ile393Asn SP substitution exon 1 VAR_051076 Q15051:p.Arg435Cys SP substitution exon 1 VAR_051077 Q86VS3:p.Val932Leu SP substitution exon 1 VAR_051078 O14654:p.Leu34Phe SP substitution exon 1 VAR_051079 O14654:p.Asn508Lys SP substitution exon 1 VAR_051080 O14654:p.His879Asp SP substitution exon 1 VAR_051082 P50748:p.Lys245Asn SP substitution exon 1 VAR_051083 P50748:p.Glu738Asp SP substitution exon 1 VAR_051084 P50748:p.Thr1506Met SP substitution exon 1 VAR_051085 P50748:p.Pro1830Leu SP substitution exon 1 VAR_051086 P50748:p.Val2021Gly SP substitution exon 1 VAR_051088 O60309:p.Lys1215Glu SP substitution exon 1 VAR_051089 Q86UK5:p.Ser230Gly SP substitution exon 1 VAR_051090 Q96BZ8:p.Glu97Lys SP substitution exon 1 VAR_051091 P16150:p.Thr22Ile SP substitution exon 1 VAR_051092 P16150:p.Thr93Ala SP substitution exon 1 VAR_051093 Q96GY3:p.Pro172Ser SP substitution exon 1 VAR_051094 Q5T7N2:p.Leu860Val SP substitution exon 1 VAR_051095 Q96L50:p.Ile96Asn SP substitution exon 1 VAR_051096 Q96L50:p.Arg229Trp SP substitution exon 1 VAR_051097 Q9Y468:p.Ser49Thr SP substitution exon 1 VAR_051098 Q9Y468:p.Ile479Met SP substitution exon 1 VAR_051101 Q8TF66:p.Val264Ile SP substitution exon 1 VAR_051102 Q8TF66:p.Pro286Leu SP substitution exon 1 VAR_051103 Q8N6Y2:p.Thr95Ile SP substitution exon 1 VAR_051104 Q8N6Y2:p.Lys119Glu SP substitution exon 1 VAR_051105 Q8N6Y2:p.Gly187Ala SP substitution exon 1 VAR_051106 Q53EV4:p.Asn65His SP substitution exon 1 VAR_051107 Q53EV4:p.Arg124Leu SP substitution exon 1 VAR_051108 Q53EV4:p.Val317Glu SP substitution exon 1 VAR_051109 Q8N386:p.Pro294Ser SP substitution exon 1 VAR_051110 Q9C0I9:p.Arg195Cys SP substitution exon 1 VAR_051111 Q6UY01:p.Ala324Glu SP substitution exon 1 VAR_051112 Q6UY01:p.Leu378Phe SP substitution exon 1 VAR_051113 Q14392:p.Leu223Val SP substitution exon 1 VAR_051114 Q14392:p.Gly311Ala SP substitution exon 1 VAR_051118 Q8N1G4:p.Pro545Leu SP substitution exon 1 VAR_051119 Q8N1G4:p.Val581Ile SP substitution exon 1 VAR_051120 Q9H069:p.Arg159Gln SP substitution exon 1 VAR_051121 Q9H069:p.Ala364Val SP substitution exon 1 VAR_051122 Q8N7C0:p.Asp209Glu SP substitution exon 1 VAR_051123 Q9BV99:p.Asn143Ser SP substitution exon 1 VAR_051124 Q68CR7:p.Gly342Ala SP substitution exon 1 VAR_051125 Q2VPJ9:p.Ser140Arg SP substitution exon 1 VAR_051126 Q6P9F7:p.Asp288Asn SP substitution exon 1 VAR_051127 Q6P9F7:p.Arg469His SP substitution exon 1 VAR_051128 Q6P9F7:p.Asn689Ser SP substitution exon 1 VAR_051129 Q8TDW0:p.Asp205Gly SP substitution exon 1 VAR_051130 Q8TDW0:p.Asn468Ser SP substitution exon 1 VAR_051131 Q8TDW0:p.Met800Ile SP substitution exon 1 VAR_051132 Q7L1W4:p.Ser371Tyr SP substitution exon 1 VAR_051133 Q9Y2L9:p.Ser234Pro SP substitution exon 1 VAR_051134 Q9Y2L9:p.Ala486Ser SP substitution exon 1 VAR_051135 O75427:p.Val642Met SP substitution exon 1 VAR_051136 A6PVS8:p.Ala255Thr SP substitution exon 1 VAR_051137 A6PVS8:p.Ile398Val SP substitution exon 1 VAR_051138 A6PVS8:p.Glu434Lys SP substitution exon 1 VAR_051139 A6PVS8:p.Leu483Phe SP substitution exon 1 VAR_051140 Q9BYS8:p.Val32Ala SP substitution exon 1 VAR_051141 Q9BYS8:p.Thr83Ala SP substitution exon 1 VAR_051142 Q9BYS8:p.Ala145Glu SP substitution exon 1 VAR_051143 Q8WUT4:p.Thr141Ala SP substitution exon 1 VAR_051144 Q9HBL6:p.Glu43Lys SP substitution exon 1 VAR_051145 Q9HBL6:p.Leu117Val SP substitution exon 1 VAR_051146 Q9P127:p.Pro14Ser SP substitution exon 1 VAR_051147 Q9P127:p.Thr306Ala SP substitution exon 1 VAR_051148 Q8WXG6:p.Arg765Gln SP substitution exon 1 VAR_051149 Q8WXG6:p.Leu1518Pro SP substitution exon 1 VAR_051150 Q7L5Y9:p.Arg34Cys SP substitution exon 1 VAR_051151 Q9H8J5:p.Asp165Asn SP substitution exon 1 VAR_051152 Q49MG5:p.Met146Val SP substitution exon 1 VAR_051153 Q49MG5:p.Lys499Arg SP substitution exon 1 VAR_051154 Q49MG5:p.Asn601Asp SP substitution exon 1 VAR_051155 Q8WWY6:p.Arg190Cys SP substitution exon 1 VAR_051156 Q9BQG0:p.His680Tyr SP substitution exon 1 VAR_051157 Q9BQG0:p.His958Pro SP substitution exon 1 VAR_051158 Q9BQG0:p.Met1208Leu SP substitution exon 1 VAR_051159 Q8IX19:p.Leu175Val SP substitution exon 1 VAR_051171 Q9NU22:p.Ile660Val SP substitution exon 1 VAR_051172 Q9NU22:p.Ala1044Val SP substitution exon 1 VAR_051173 Q9NU22:p.His1929Asp SP substitution exon 1 VAR_051174 Q9NU22:p.His2972Pro SP substitution exon 1 VAR_051175 Q9NU22:p.Glu3004Lys SP substitution exon 1 VAR_051176 Q9NU22:p.His3423Tyr SP substitution exon 1 VAR_051177 Q9NU22:p.Ala3794Gly SP substitution exon 1 VAR_051178 Q9NU22:p.Arg3986Leu SP substitution exon 1 VAR_051179 Q9NU22:p.Ala4167Thr SP substitution exon 1 VAR_051180 Q9NU22:p.Ile4720Thr SP substitution exon 1 VAR_051181 Q9NU22:p.Asp4783Glu SP substitution exon 1 VAR_051182 Q9NU22:p.Asn5251Lys SP substitution exon 1 VAR_051183 Q13465:p.Pro120Ser SP substitution exon 1 VAR_051185 Q8TDR0:p.Lys295Asn SP substitution exon 1 VAR_051186 Q15049:p.Cys171Phe SP substitution exon 1 VAR_051188 Q86VD1:p.Thr153Pro SP substitution exon 1 VAR_051189 Q86VD1:p.Lys322Met SP substitution exon 1 VAR_051190 Q86VD1:p.Phe470Ile SP substitution exon 1 VAR_051191 Q86VD1:p.Met478Val SP substitution exon 1 VAR_051192 Q86VD1:p.Met649Ile SP substitution exon 1 VAR_051193 Q86VD1:p.Ser767Asn SP substitution exon 1 VAR_051194 Q86VD1:p.His836Tyr SP substitution exon 1 VAR_051195 Q86VD1:p.Ser982Cys SP substitution exon 1 VAR_051196 Q86VD1:p.Ser982Trp SP substitution exon 1 VAR_051197 Q8TE76:p.Thr473Ile SP substitution exon 1 VAR_051198 Q8TE76:p.Arg653Cys SP substitution exon 1 VAR_051199 Q5T089:p.Leu124Val SP substitution exon 1 VAR_051200 Q2M385:p.Ala467Thr SP substitution exon 1 VAR_051201 Q2M385:p.Pro552Leu SP substitution exon 1 VAR_051202 Q2M385:p.Gln694Arg SP substitution exon 1 VAR_051203 Q6WCQ1:p.Pro327Gln SP substitution exon 1 VAR_051204 Q5VU43:p.Arg171Lys SP substitution exon 1 VAR_051205 Q5VU43:p.Glu391Ala SP substitution exon 1 VAR_051206 Q5VU43:p.Glu410Val SP substitution exon 1 VAR_051207 Q5VU43:p.His482Arg SP substitution exon 1 VAR_051208 Q5VU43:p.Arg681His SP substitution exon 1 VAR_051209 Q5VU43:p.Cys708Arg SP substitution exon 1 VAR_051210 Q5VU43:p.Phe1013Ile SP substitution exon 1 VAR_051211 Q5VU43:p.Ala1066Thr SP substitution exon 1 VAR_051215 Q86UW6:p.Ser101Ile SP substitution exon 1 VAR_051216 Q86UW6:p.Met196Val SP substitution exon 1 VAR_051217 Q86UW6:p.Asp611Asn SP substitution exon 1 VAR_051218 Q86UW6:p.Thr1587Ala SP substitution exon 1 VAR_051219 Q9BWU0:p.Arg181Cys SP substitution exon 1 VAR_051220 O14513:p.Ser600Thr SP substitution exon 1 VAR_051221 O14513:p.Val937Ile SP substitution exon 1 VAR_051222 O14513:p.Ile977Thr SP substitution exon 1 VAR_051223 O14513:p.Asn1093Tyr SP substitution exon 1 VAR_051224 O14513:p.Pro1260Gln SP substitution exon 1 VAR_051225 O14513:p.Val1403Ala SP substitution exon 1 VAR_051226 O60934:p.Asn142Ser SP substitution exon 1 VAR_051227 O60934:p.Lys408Glu SP substitution exon 1 VAR_051228 P16333:p.Ala180Val SP substitution exon 1 VAR_051229 O76041:p.Asp378His SP substitution exon 1 VAR_051230 Q8TDF5:p.Ser481Asn SP substitution exon 1 VAR_051231 Q8TDF5:p.Ala487Gly SP substitution exon 1 VAR_051232 Q8NC67:p.Ser456Thr SP substitution exon 1 VAR_051233 Q5JS37:p.Leu221Arg SP substitution exon 1 VAR_051235 Q8N4C6:p.Gln1125Pro SP substitution exon 1 VAR_051236 Q8N4C6:p.Gln1934Glu SP substitution exon 1 VAR_051237 Q9H8H0:p.Val115Ala SP substitution exon 1 VAR_051238 Q16612:p.Glu43Gly SP substitution exon 1 VAR_051239 P0C0P6:p.Ser14Leu SP substitution exon 1 VAR_051240 P0C0P6:p.Val75Leu SP substitution exon 1 VAR_051241 P48552:p.Val37Ile SP substitution exon 1 VAR_051242 P48552:p.Asn567Ser SP substitution exon 1 VAR_051243 Q96IY1:p.Ser4Phe SP substitution exon 1 VAR_051246 Q9H1E3:p.Glu119Gly SP substitution exon 1 VAR_051247 Q9H1E3:p.Leu137Pro SP substitution exon 1 VAR_051249 P49757:p.Val387Ile SP substitution exon 1 VAR_051250 P49757:p.Gly595Asp SP substitution exon 1 VAR_051251 Q14990:p.Phe243Leu SP substitution exon 1 VAR_051252 P23515:p.Gly21Asp SP substitution exon 1 VAR_051253 P23515:p.Val435Ala SP substitution exon 1 VAR_051254 P47874:p.Arg26Trp SP substitution exon 1 VAR_051255 P47874:p.Gly36Arg SP substitution exon 1 VAR_051256 Q8TDB4:p.Ala128Thr SP substitution exon 1 VAR_051257 Q86WC4:p.Leu52Phe SP substitution exon 1 VAR_051258 Q5T2D3:p.Asn321Ser SP substitution exon 1 VAR_051259 Q5T2D3:p.Ala333Thr SP substitution exon 1 VAR_051260 Q6GV28:p.Cys196Arg SP substitution exon 1 VAR_051261 Q15102:p.Arg214Gly SP substitution exon 1 VAR_051262 Q15004:p.Glu79Lys SP substitution exon 1 VAR_051263 Q96AQ6:p.Gly356Asp SP substitution exon 1 VAR_051264 Q9UKZ9:p.Val280Ala SP substitution exon 1 VAR_051265 Q8NEN9:p.Val806Ala SP substitution exon 1 VAR_051266 Q8NEN9:p.Arg897Gln SP substitution exon 1 VAR_051267 Q96RR1:p.Glu427Gly SP substitution exon 1 VAR_051268 Q6Y7W6:p.Pro423Leu SP substitution exon 1 VAR_051269 O75381:p.Ala117Ser SP substitution exon 1 VAR_051270 O75381:p.Ala150Ser SP substitution exon 1 VAR_051272 Q9Y5Y5:p.Val103Met SP substitution exon 1 VAR_051273 Q96JS3:p.Gly244Arg SP substitution exon 1 VAR_051274 Q8N328:p.Gln446Glu SP substitution exon 1 VAR_051276 Q8IXK0:p.Pro254Ser SP substitution exon 1 VAR_051277 Q8IXK0:p.Val475Met SP substitution exon 1 VAR_051278 P80108:p.Ile350Val SP substitution exon 1 VAR_051279 Q8WXW3:p.Ile167Val SP substitution exon 1 VAR_051280 Q8WXW3:p.Arg405Gln SP substitution exon 1 VAR_051281 Q8WXW3:p.Ile630Val SP substitution exon 1 VAR_051282 P08F94:p.Arg760Trp SP substitution exon 1 VAR_051283 Q15126:p.Val125Met SP substitution exon 1 VAR_051284 Q12796:p.Pro252Leu SP substitution exon 1 VAR_051285 Q96KF2:p.Ala4Val SP substitution exon 1 VAR_051286 O43395:p.Lys12Asn SP substitution exon 1 VAR_051287 O60759:p.Gln83Glu SP substitution exon 1 VAR_051288 Q6PGN9:p.Arg312Gln SP substitution exon 1 VAR_051289 Q3SYG4:p.Thr12Ala SP substitution exon 1 VAR_051290 Q3SYG4:p.Ala455Thr SP substitution exon 1 VAR_051291 Q3SYG4:p.Arg521Gln SP substitution exon 1 VAR_051292 Q9Y3Y4:p.Pro299His SP substitution exon 1 VAR_051293 Q5TB80:p.Ser342Cys SP substitution exon 1 VAR_051294 Q5TB80:p.Glu348Gln SP substitution exon 1 VAR_051295 Q9H0J4:p.Leu202Ser SP substitution exon 1 VAR_051296 Q9H0J4:p.Ile630Thr SP substitution exon 1 VAR_051297 Q9H0J4:p.His906Tyr SP substitution exon 1 VAR_051298 Q9H0J4:p.His974Arg SP substitution exon 1 VAR_051299 Q9H0J4:p.Glu1036Gln SP substitution exon 1 VAR_051300 Q7Z5J4:p.Gly90Ala SP substitution exon 1 VAR_051301 Q7Z5J4:p.Gln939Pro SP substitution exon 1 VAR_051302 Q5U651:p.Arg601Cys SP substitution exon 1 VAR_051304 Q8IUD2:p.Ser50Gly SP substitution exon 1 VAR_051305 Q8IUD2:p.Thr1032Ala SP substitution exon 1 VAR_051306 Q7Z6E9:p.Asp43His SP substitution exon 1 VAR_051308 Q99708:p.Lys357Asn SP substitution exon 1 VAR_051309 Q8TDY2:p.Pro708Leu SP substitution exon 1 VAR_051310 Q8TDY2:p.Arg1216Lys SP substitution exon 1 VAR_051311 Q8TDY2:p.Asn1314Lys SP substitution exon 1 VAR_051312 Q8TDY2:p.Ser1424Phe SP substitution exon 1 VAR_051313 O75787:p.Pro90Ala SP substitution exon 1 VAR_051315 P10745:p.Val884Met SP substitution exon 1 VAR_051316 Q7L804:p.Phe152Val SP substitution exon 1 VAR_051317 Q14699:p.Glu248Lys SP substitution exon 1 VAR_051318 Q8NET4:p.Pro777Ser SP substitution exon 1 VAR_051319 Q5HYW3:p.Ser420Arg SP substitution exon 1 VAR_051320 Q6R327:p.Ser837Phe SP substitution exon 1 VAR_051321 Q96NA2:p.Ala81Thr SP substitution exon 1 VAR_051322 Q6NUQ1:p.Ser40Cys SP substitution exon 1 VAR_051323 P56715:p.Tyr251Cys SP substitution exon 1 VAR_051324 P56715:p.Thr752Met SP substitution exon 1 VAR_051325 P56715:p.Val945Leu SP substitution exon 1 VAR_051326 P56715:p.Arg1595Gln SP substitution exon 1 VAR_051327 Q96T51:p.His298Gln SP substitution exon 1 VAR_051328 Q96C34:p.Glu566Lys SP substitution exon 1 VAR_051329 Q9BVN2:p.Val493Ala SP substitution exon 1 VAR_051330 Q86WX3:p.Glu124Ala SP substitution exon 1 VAR_051331 Q9NSI8:p.Gly63Ala SP substitution exon 1 VAR_051332 Q9P0W5:p.Glu101Lys SP substitution exon 1 VAR_051333 Q86SQ7:p.Glu378Asp SP substitution exon 1 VAR_051334 Q9H4I8:p.Glu3Lys SP substitution exon 1 VAR_051335 Q9H4I8:p.Cys306Arg SP substitution exon 1 VAR_051336 Q9C0A6:p.Arg77His SP substitution exon 1 VAR_051337 Q9C0A6:p.Arg119Ile SP substitution exon 1 VAR_051339 Q8IWZ8:p.Arg290His SP substitution exon 1 VAR_051341 Q8IX01:p.Met552Thr SP substitution exon 1 VAR_051342 Q8IX01:p.Gln649Arg SP substitution exon 1 VAR_051343 Q8IX01:p.Gln722Arg SP substitution exon 1 VAR_051344 Q8IX01:p.Arg881Gln SP substitution exon 1 VAR_051345 Q96HU1:p.Trp20Arg SP substitution exon 1 VAR_051346 Q96HU1:p.His279Gln SP substitution exon 1 VAR_051347 O14796:p.Ile36Thr SP substitution exon 1 VAR_051348 O14796:p.Asn122Lys SP substitution exon 1 VAR_051349 Q9BRG2:p.Asp223Gly SP substitution exon 1 VAR_051350 Q9H788:p.Glu209Gly SP substitution exon 1 VAR_051351 Q9H788:p.Ser275Asn SP substitution exon 1 VAR_051352 Q8N5H7:p.Leu23Phe SP substitution exon 1 VAR_051353 P29353:p.Met410Val SP substitution exon 1 VAR_051354 Q8NEM2:p.Met21Thr SP substitution exon 1 VAR_051355 Q8NEM2:p.Met60Arg SP substitution exon 1 VAR_051356 Q9HAT2:p.Lys71Arg SP substitution exon 1 VAR_051357 Q9HAT2:p.Ala467Val SP substitution exon 1 VAR_051358 Q5T5P2:p.Ala145Gly SP substitution exon 1 VAR_051359 Q5T5P2:p.Ala887Thr SP substitution exon 1 VAR_051360 Q5T5P2:p.Pro1362Ala SP substitution exon 1 VAR_051361 Q9H6Q3:p.Val210Met SP substitution exon 1 VAR_051362 Q5VUG0:p.Pro675Arg SP substitution exon 1 VAR_051363 Q92540:p.Ser627Phe SP substitution exon 1 VAR_051364 Q92540:p.Val900Ile SP substitution exon 1 VAR_051365 A6NHR9:p.Ile960Val SP substitution exon 1 VAR_051367 O43290:p.Arg245Cys SP substitution exon 1 VAR_051369 Q8NEY3:p.Tyr149Cys SP substitution exon 1 VAR_051370 Q9P0W8:p.Asp2Asn SP substitution exon 1 VAR_051371 Q9P0W8:p.Phe119Leu SP substitution exon 1 VAR_051372 Q9P0W8:p.Ser165Asn SP substitution exon 1 VAR_051373 Q9P0W8:p.Gly324Glu SP substitution exon 1 VAR_051375 Q9BWV2:p.Lys209Glu SP substitution exon 1 VAR_051376 Q9C093:p.Ala904Val SP substitution exon 1 VAR_051377 Q9C093:p.Ala934Pro SP substitution exon 1 VAR_051378 Q9NZQ3:p.Thr324Ser SP substitution exon 1 VAR_051379 Q6ZMY3:p.Thr109Ala SP substitution exon 1 VAR_051380 Q6ZMY3:p.Arg436Trp SP substitution exon 1 VAR_051381 Q8WW59:p.Met50Thr SP substitution exon 1 VAR_051382 Q96L03:p.Asn16Ser SP substitution exon 1 VAR_051383 O60232:p.Thr21Met SP substitution exon 1 VAR_051384 Q14714:p.Ser186Asn SP substitution exon 1 VAR_051385 Q14714:p.Val228Ile SP substitution exon 1 VAR_051386 Q15468:p.Ala1145Val SP substitution exon 1 VAR_051388 Q6ZVD7:p.Ala863Thr SP substitution exon 1 VAR_051389 Q7RTU9:p.Leu1640Phe SP substitution exon 1 VAR_051390 Q6UWL2:p.Gln201Glu SP substitution exon 1 VAR_051391 O60279:p.Phe40Leu SP substitution exon 1 VAR_051392 O60279:p.Arg216Lys SP substitution exon 1 VAR_051393 O60279:p.Glu378Asp SP substitution exon 1 VAR_051394 P57105:p.Val9Ile SP substitution exon 1 VAR_051395 Q9UMZ2:p.Ala40Gly SP substitution exon 1 VAR_051396 Q9UMZ2:p.Thr222Ala SP substitution exon 1 VAR_051397 Q9Y2B4:p.Arg57His SP substitution exon 1 VAR_051398 Q9Y2B4:p.Val172Ala SP substitution exon 1 VAR_051399 Q9Y2B4:p.Arg191His SP substitution exon 1 VAR_051400 Q9Y2B4:p.His219Gln SP substitution exon 1 VAR_051401 Q9Y2B4:p.Pro221Leu SP substitution exon 1 VAR_051402 Q9Y2B4:p.Val257Ala SP substitution exon 1 VAR_051403 Q9Y2B4:p.His275Asn SP substitution exon 1 VAR_051404 Q96A56:p.Cys75Arg SP substitution exon 1 VAR_051405 Q8N9U0:p.Lys151Thr SP substitution exon 1 VAR_051406 Q8N9U0:p.Ser172Asn SP substitution exon 1 VAR_051407 P09758:p.Glu147Asp SP substitution exon 1 VAR_051408 P57077:p.Ile112Val SP substitution exon 1 VAR_051409 Q92844:p.Gly292Arg SP substitution exon 1 VAR_051410 Q92844:p.Pro358Leu SP substitution exon 1 VAR_051411 Q92844:p.Arg394Gln SP substitution exon 1 VAR_051412 Q9H2D6:p.Asn863Lys SP substitution exon 1 VAR_051415 Q86VP1:p.Ser58Asn SP substitution exon 1 VAR_051416 Q8IUC6:p.Arg75Cys SP substitution exon 1 VAR_051417 Q8IUC6:p.Leu275Val SP substitution exon 1 VAR_051418 Q8IUC6:p.Ala666Thr SP substitution exon 1 VAR_051419 Q9UGU0:p.Met405Val SP substitution exon 1 VAR_051420 Q9UGU0:p.Tyr1910Cys SP substitution exon 1 VAR_051421 O15273:p.Arg106Cys SP substitution exon 1 VAR_051422 Q96CG3:p.Thr19Met SP substitution exon 1 VAR_051423 Q9BSI4:p.Ala43Thr SP substitution exon 1 VAR_051424 Q9BSI4:p.Gly237Asp SP substitution exon 1 VAR_051425 Q9BSI4:p.Pro241Ser SP substitution exon 1 VAR_051426 Q8N8V8:p.Arg122Trp SP substitution exon 1 VAR_051427 Q6UXF1:p.Pro84Leu SP substitution exon 1 VAR_051428 Q96AQ2:p.Ala112Asp SP substitution exon 1 VAR_051429 Q9BVK8:p.Tyr132His SP substitution exon 1 VAR_051430 Q8N614:p.Ser105Pro SP substitution exon 1 VAR_051431 Q14656:p.Ser70Leu SP substitution exon 1 VAR_051432 Q14656:p.Met78Val SP substitution exon 1 VAR_051433 Q14656:p.Arg138Gln SP substitution exon 1 VAR_051434 A6NGA9:p.Met204Leu SP substitution exon 1 VAR_051435 Q9BSN7:p.Gly57Ala SP substitution exon 1 VAR_051436 Q6UWW9:p.Leu57Val SP substitution exon 1 VAR_051437 Q9NS93:p.Pro248Leu SP substitution exon 1 VAR_051438 Q9H295:p.Asp349Gly SP substitution exon 1 VAR_051439 P82094:p.Gln430Glu SP substitution exon 1 VAR_051440 P82094:p.Cys448Tyr SP substitution exon 1 VAR_051441 P82094:p.Gln682Arg SP substitution exon 1 VAR_051442 O14669:p.Pro22Ser SP substitution exon 1 VAR_051443 Q9BZD6:p.Glu33Lys SP substitution exon 1 VAR_051444 Q9BZD6:p.Cys143Arg SP substitution exon 1 VAR_051445 Q9BZD6:p.Pro176Gln SP substitution exon 1 VAR_051446 Q9NW97:p.Val34Ala SP substitution exon 1 VAR_051447 Q9NW97:p.Arg92Gln SP substitution exon 1 VAR_051448 Q8NDY8:p.Met141Val SP substitution exon 1 VAR_051449 Q9H2L4:p.Val42Gly SP substitution exon 1 VAR_051450 A2RUT3:p.Pro61Thr SP substitution exon 1 VAR_051451 Q9Y2Y6:p.Trp83Arg SP substitution exon 1 VAR_051452 Q9UPQ9:p.Ser517Cys SP substitution exon 1 VAR_051453 Q15025:p.Pro103Ser SP substitution exon 1 VAR_051454 Q15025:p.Ala146Val SP substitution exon 1 VAR_051455 Q15025:p.Pro151Ala SP substitution exon 1 VAR_051456 Q15025:p.Arg233Gln SP substitution exon 1 VAR_051457 Q15025:p.Ala260Val SP substitution exon 1 VAR_051458 O60296:p.Ile863Asn SP substitution exon 1 VAR_051459 Q9UJT2:p.Glu167Lys SP substitution exon 1 VAR_051460 Q9UJT2:p.Asp382Gly SP substitution exon 1 VAR_051461 Q96NA8:p.Arg55Pro SP substitution exon 1 VAR_051462 Q96NA8:p.Thr118Ala SP substitution exon 1 VAR_051463 Q96NA8:p.Val268Ile SP substitution exon 1 VAR_051464 O95551:p.Ser166Gly SP substitution exon 1 VAR_051465 Q9NPG3:p.Tyr435Cys SP substitution exon 1 VAR_051466 O95071:p.Ser2150Arg SP substitution exon 1 VAR_051469 Q96RL1:p.Arg15Trp SP substitution exon 1 VAR_051470 Q96RL1:p.Pro435Leu SP substitution exon 1 VAR_051471 Q96RL1:p.Cys511Arg SP substitution exon 1 VAR_051472 Q96RL1:p.Gly596Glu SP substitution exon 1 VAR_051473 O00526:p.Ala47Ser SP substitution exon 1 VAR_051474 Q6BDS2:p.Lys404Asn SP substitution exon 1 VAR_051475 Q6BDS2:p.Gln454Arg SP substitution exon 1 VAR_051476 Q6BDS2:p.Lys854Glu SP substitution exon 1 VAR_051477 Q6BDS2:p.Gln984His SP substitution exon 1 VAR_051478 Q6BDS2:p.Met1098Thr SP substitution exon 1 VAR_051479 Q8TCY9:p.Thr697Ala SP substitution exon 1 VAR_051480 Q8TCY9:p.Leu756Phe SP substitution exon 1 VAR_051482 Q5TAP6:p.Arg319His SP substitution exon 1 VAR_051483 Q13336:p.Met167Val SP substitution exon 1 VAR_051484 Q13336:p.Trp171Arg SP substitution exon 1 VAR_051485 Q5T230:p.Gly73Arg SP substitution exon 1 VAR_051486 Q9Y4B6:p.Asn267Asp SP substitution exon 1 VAR_051487 Q9Y4B6:p.Leu378Phe SP substitution exon 1 VAR_051489 Q8TF30:p.His736Pro SP substitution exon 1 VAR_051490 Q8TF30:p.His736Gln SP substitution exon 1 VAR_051491 O00258:p.Val110Ile SP substitution exon 1 VAR_051493 Q96DZ1:p.Val318Leu SP substitution exon 1 VAR_051494 Q9ULM3:p.Ile184Val SP substitution exon 1 VAR_051495 Q9ULM3:p.Val530Ile SP substitution exon 1 VAR_051496 Q9ULM3:p.Gln993His SP substitution exon 1 VAR_051497 Q9H869:p.Gly412Ser SP substitution exon 1 VAR_051499 Q504Y3:p.Leu202Gln SP substitution exon 1 VAR_051500 Q9Y3S2:p.Thr28Ala SP substitution exon 1 VAR_051501 Q9Y3S2:p.Leu298Met SP substitution exon 1 VAR_051502 Q32MQ0:p.Pro288Leu SP substitution exon 1 VAR_051503 Q32MQ0:p.Gln392Arg SP substitution exon 1 VAR_051504 Q9P2E3:p.Gly1297Ser SP substitution exon 1 VAR_051505 O95229:p.Arg187Gly SP substitution exon 1 VAR_051506 P49643:p.Gln265Leu SP substitution exon 1 VAR_051507 Q9NRN9:p.Val202Gly SP substitution exon 1 VAR_051508 Q53RT3:p.Thr49Ala SP substitution exon 1 VAR_051509 P56817:p.Cys481Arg SP substitution exon 1 VAR_051510 O96009:p.Ile40Thr SP substitution exon 1 VAR_051511 P07858:p.Ser53Gly SP substitution exon 1 VAR_051512 P07858:p.Pro91Leu SP substitution exon 1 VAR_051513 Q9UBX1:p.Gln153Arg SP substitution exon 1 VAR_051514 Q9GZM7:p.Ala69Ser SP substitution exon 1 VAR_051516 Q6ZSI9:p.Cys287Arg SP substitution exon 1 VAR_051517 Q92560:p.Val616Glu SP substitution exon 1 VAR_051518 Q92643:p.Thr16Ala SP substitution exon 1 VAR_051519 O75604:p.Arg174Gln SP substitution exon 1 VAR_051520 O75604:p.Asn383Ser SP substitution exon 1 VAR_051522 P35125:p.Trp475Arg SP substitution exon 1 VAR_051523 P35125:p.Arg912Gln SP substitution exon 1 VAR_051524 P35125:p.Ile1330Val SP substitution exon 1 VAR_051525 P40818:p.Thr739Ala SP substitution exon 1 VAR_051528 O94966:p.Asp36His SP substitution exon 1 VAR_051529 Q9Y2K6:p.Ser103Tyr SP substitution exon 1 VAR_051530 Q9Y2K6:p.Val444Ile SP substitution exon 1 VAR_051531 Q9UK80:p.Pro91Ser SP substitution exon 1 VAR_051532 Q9UK80:p.Gly321Asp SP substitution exon 1 VAR_051533 Q9UK80:p.Pro336Thr SP substitution exon 1 VAR_051534 Q70CQ4:p.Asp1269Asn SP substitution exon 1 VAR_051535 Q70CQ4:p.Arg1309Cys SP substitution exon 1 VAR_051536 Q8NFA0:p.His76Tyr SP substitution exon 1 VAR_051540 P62068:p.Ala81Val SP substitution exon 1 VAR_051542 Q5W0Q7:p.Ile583Val SP substitution exon 1 VAR_051544 Q9H4L4:p.Trp515Arg SP substitution exon 1 VAR_051547 P20618:p.Pro11Ala SP substitution exon 1 VAR_051549 P28074:p.Arg24Cys SP substitution exon 1 VAR_051550 A5LHX3:p.Gly49Ser SP substitution exon 1 VAR_051554 Q13200:p.Ala176Thr SP substitution exon 1 VAR_051555 Q13200:p.Glu313Asp SP substitution exon 1 VAR_051556 Q16401:p.Glu21Gly SP substitution exon 1 VAR_051557 Q16401:p.Leu72His SP substitution exon 1 VAR_051559 Q92954:p.Asn1130Ser SP substitution exon 1 VAR_051560 Q92954:p.Ile1272Thr SP substitution exon 1 VAR_051561 Q92954:p.Thr1296Met SP substitution exon 1 VAR_051562 Q9BQ16:p.Ile112Val SP substitution exon 1 VAR_051563 Q9GZP0:p.Ile190Val SP substitution exon 1 VAR_051564 P36776:p.Glu87Asp SP substitution exon 1 VAR_051565 P36776:p.Arg241Gln SP substitution exon 1 VAR_051567 Q9UIQ6:p.Asn594Ile SP substitution exon 1 VAR_051568 Q9UIQ6:p.Ser913Thr SP substitution exon 1 VAR_051569 Q6P179:p.Leu411Arg SP substitution exon 1 VAR_051570 P09960:p.Tyr131His SP substitution exon 1 VAR_051571 P14735:p.Glu612Lys SP substitution exon 1 VAR_051574 P12955:p.Arg388His SP substitution exon 1 VAR_051575 O15055:p.Ala5Ser SP substitution exon 1 VAR_051576 O15055:p.Val729Ile SP substitution exon 1 VAR_051577 O15055:p.Val903Ile SP substitution exon 1 VAR_051578 O15055:p.Phe949Tyr SP substitution exon 1 VAR_051579 P42658:p.Leu854Pro SP substitution exon 1 VAR_051580 P13798:p.Thr541Met SP substitution exon 1 VAR_051581 Q6NTF9:p.Arg85His SP substitution exon 1 VAR_051582 Q9Y3P4:p.His227Arg SP substitution exon 1 VAR_051583 Q16819:p.Thr606Ser SP substitution exon 1 VAR_051584 P13497:p.Val719Ile SP substitution exon 1 VAR_051586 P78536:p.Lys162Glu SP substitution exon 1 VAR_051587 P78536:p.Arg202Gly SP substitution exon 1 VAR_051588 Q9Y3Q7:p.Val212Phe SP substitution exon 1 VAR_051589 Q9P0K1:p.His119Tyr SP substitution exon 1 VAR_051590 Q9P0K1:p.Val207Ile SP substitution exon 1 VAR_051591 Q8TC27:p.Thr467Ser SP substitution exon 1 VAR_051592 Q9P2N4:p.Ser96Thr SP substitution exon 1 VAR_051593 Q9P2N4:p.Lys1921Glu SP substitution exon 1 VAR_051594 Q8TE58:p.Asn623Ser SP substitution exon 1 VAR_051595 Q9BXP8:p.Thr171Ser SP substitution exon 1 VAR_051596 Q9BXP8:p.Pro1657Arg SP substitution exon 1 VAR_051597 Q9NY33:p.Glu690Lys SP substitution exon 1 VAR_051599 Q92576:p.Val525Ile SP substitution exon 1 VAR_051601 Q96EK2:p.Gly127Ser SP substitution exon 1 VAR_051602 Q8IXJ9:p.Val751Ile SP substitution exon 1 VAR_051603 Q8IXJ9:p.Leu983Arg SP substitution exon 1 VAR_051606 Q14691:p.Val97Ile SP substitution exon 1 VAR_051607 Q8WWH5:p.Glu103Ala SP substitution exon 1 VAR_051608 O95900:p.Pro79Leu SP substitution exon 1 VAR_051609 O95900:p.Thr209Ser SP substitution exon 1 VAR_051610 Q96BW5:p.Glu97Gly SP substitution exon 1 VAR_051611 Q8N697:p.Val239Ala SP substitution exon 1 VAR_051612 Q86U38:p.Pro51Ser SP substitution exon 1 VAR_051613 Q15397:p.Ser13Asn SP substitution exon 1 VAR_051614 Q15397:p.Ile264Val SP substitution exon 1 VAR_051615 Q15397:p.Thr414Ser SP substitution exon 1 VAR_051616 Q15397:p.Arg480Gln SP substitution exon 1 VAR_051617 P31749:p.Val167Ala SP substitution exon 1 VAR_051618 Q9NSY1:p.Gly405Ser SP substitution exon 1 VAR_051619 Q9NSY1:p.Thr1002Ser SP substitution exon 1 VAR_051621 P32298:p.Asp95His SP substitution exon 1 VAR_051622 P32298:p.Thr183Arg SP substitution exon 1 VAR_051623 P32298:p.Ala440Val SP substitution exon 1 VAR_051624 Q8WTQ7:p.Arg461Cys SP substitution exon 1 VAR_051625 P49840:p.Gln109Glu SP substitution exon 1 VAR_051626 Q86Z02:p.Gln6Arg SP substitution exon 1 VAR_051627 Q9H422:p.Val474Ile SP substitution exon 1 VAR_051628 O14920:p.Ala736Thr SP substitution exon 1 VAR_051629 P51617:p.Arg194His SP substitution exon 1 VAR_051630 P51617:p.Phe196Ser SP substitution exon 1 VAR_051631 P51617:p.Cys203Ser SP substitution exon 1 VAR_051632 Q13976:p.Asn267Ser SP substitution exon 1 VAR_051633 Q13237:p.Thr22Ser SP substitution exon 1 VAR_051634 O75582:p.His190Arg SP substitution exon 1 VAR_051635 Q96S38:p.Pro561Arg SP substitution exon 1 VAR_051636 Q13233:p.Asp806Asn SP substitution exon 1 VAR_051637 Q13233:p.Val906Ile SP substitution exon 1 VAR_051638 P41279:p.Ser214Phe SP substitution exon 1 VAR_051639 Q02779:p.Pro168Gln SP substitution exon 1 VAR_051640 O43283:p.Glu44Lys SP substitution exon 1 VAR_051641 Q99558:p.Thr255Met SP substitution exon 1 VAR_051643 Q92918:p.Asn811Ser SP substitution exon 1 VAR_051644 Q9Y2H9:p.Ala1048Ser SP substitution exon 1 VAR_051645 Q6P0Q8:p.Thr1608Ile SP substitution exon 1 VAR_051646 O60307:p.Arg203Gln SP substitution exon 1 VAR_051647 O60307:p.Gly861Ser SP substitution exon 1 VAR_051648 Q9HBH9:p.Gln10Lys SP substitution exon 1 VAR_051650 Q86YV6:p.Glu39Ala SP substitution exon 1 VAR_051651 Q96PY6:p.Glu724Gly SP substitution exon 1 VAR_051652 Q6P3R8:p.Lys255Gln SP substitution exon 1 VAR_051653 Q7Z2Y5:p.Arg727His SP substitution exon 1 VAR_051654 Q13153:p.Leu515Val SP substitution exon 1 VAR_051655 Q9NQU5:p.Arg103Cys SP substitution exon 1 VAR_051656 Q9NQU5:p.Thr151Ile SP substitution exon 1 VAR_051657 Q9NQU5:p.Glu475Lys SP substitution exon 1 VAR_051658 P15735:p.Glu247Gly SP substitution exon 1 VAR_051659 P53350:p.Asn297Asp SP substitution exon 1 VAR_051660 P53350:p.Ser595Leu SP substitution exon 1 VAR_051661 P53350:p.Arg599His SP substitution exon 1 VAR_051662 Q9Y2K2:p.Asp1040Glu SP substitution exon 1 VAR_051663 Q9Y2K2:p.Pro1078Arg SP substitution exon 1 VAR_051664 Q9Y572:p.Glu260Val SP substitution exon 1 VAR_051665 Q52WX2:p.Arg12His SP substitution exon 1 VAR_051666 Q9H2G2:p.Gly666Glu SP substitution exon 1 VAR_051667 Q9H0K1:p.Pro828Leu SP substitution exon 1 VAR_051668 Q9H0K1:p.Pro829Ser SP substitution exon 1 VAR_051669 Q96SB4:p.Ile72Thr SP substitution exon 1 VAR_051670 Q13188:p.Phe418Cys SP substitution exon 1 VAR_051671 O94804:p.Pro480Leu SP substitution exon 1 VAR_051672 O94804:p.Pro520Leu SP substitution exon 1 VAR_051673 O94804:p.Ser942Asn SP substitution exon 1 VAR_051674 O00506:p.Gln64His SP substitution exon 1 VAR_051675 Q9BXU1:p.Arg385Cys SP substitution exon 1 VAR_051676 Q96KB5:p.Glu220Asp SP substitution exon 1 VAR_051677 Q96PF2:p.Glu244Lys SP substitution exon 1 VAR_051678 Q96PN8:p.Ile71Val SP substitution exon 1 VAR_051679 Q96C45:p.Ile224Val SP substitution exon 1 VAR_051681 Q86Y07:p.Asn211Ser SP substitution exon 1 VAR_051682 Q8IV63:p.Ser170Pro SP substitution exon 1 VAR_051683 Q8IV63:p.Thr188Ala SP substitution exon 1 VAR_051684 Q8IV63:p.His304Leu SP substitution exon 1 VAR_051685 Q96J92:p.Arg677Trp SP substitution exon 1 VAR_051687 Q56UN5:p.Thr438Ile SP substitution exon 1 VAR_051688 Q56UN5:p.Glu676Gln SP substitution exon 1 VAR_051689 Q56UN5:p.Glu812Gly SP substitution exon 1 VAR_051690 Q8IZE3:p.Gly597Ala SP substitution exon 1 VAR_051691 Q8IZE3:p.Gln621Arg SP substitution exon 1 VAR_051692 P00519:p.Leu140Pro SP substitution exon 1 VAR_051693 P00519:p.Lys247Arg SP substitution exon 1 VAR_051694 P00519:p.Ser968Pro SP substitution exon 1 VAR_051695 P16591:p.Ile507Thr SP substitution exon 1 VAR_051696 Q08881:p.Arg193Gln SP substitution exon 1 VAR_051697 P06239:p.Gly201Ser SP substitution exon 1 VAR_051698 Q12866:p.Asn329Ser SP substitution exon 1 VAR_051699 P12931:p.Leu176Phe SP substitution exon 1 VAR_051700 Q9H3Y6:p.Pro218Leu SP substitution exon 1 VAR_051701 Q9H3Y6:p.Val255Met SP substitution exon 1 VAR_051702 Q9H3Y6:p.Pro325Leu SP substitution exon 1 VAR_051703 Q13393:p.Val1024Ile SP substitution exon 1 VAR_051704 O14939:p.Arg172Cys SP substitution exon 1 VAR_051705 O14939:p.Thr577Ile SP substitution exon 1 VAR_051706 O14939:p.Ala804Thr SP substitution exon 1 VAR_051707 O14939:p.Gly821Arg SP substitution exon 1 VAR_051708 O60568:p.Ala151Val SP substitution exon 1 VAR_051710 O95716:p.Val64Ile SP substitution exon 1 VAR_051711 Q9H0T7:p.Val19Ala SP substitution exon 1 VAR_051712 Q9H0T7:p.Ser184Gly SP substitution exon 1 VAR_051713 Q9NP72:p.Asn113Ser SP substitution exon 1 VAR_051714 O00194:p.Ala92Thr SP substitution exon 1 VAR_051715 O95755:p.Glu320Lys SP substitution exon 1 VAR_051716 Q15042:p.Asn598Ser SP substitution exon 1 VAR_051717 Q8NFW9:p.Pro673Ser SP substitution exon 1 VAR_051718 O60671:p.Ala33Gly SP substitution exon 1 VAR_051719 O60671:p.Thr104Ser SP substitution exon 1 VAR_051720 O60671:p.Gly114Asp SP substitution exon 1 VAR_051721 O60671:p.Glu281Gly SP substitution exon 1 VAR_051722 O95072:p.Arg31Cys SP substitution exon 1 VAR_051723 O95072:p.Pro294Leu SP substitution exon 1 VAR_051724 Q99638:p.Leu71Gln SP substitution exon 1 VAR_051725 Q8IVU3:p.Met123Thr SP substitution exon 1 VAR_051726 Q8IVU3:p.Cys199Arg SP substitution exon 1 VAR_051727 Q8IVU3:p.Phe343Leu SP substitution exon 1 VAR_051728 Q8IVU3:p.Thr614Ile SP substitution exon 1 VAR_051730 O15315:p.Pro365Arg SP substitution exon 1 VAR_051731 P54132:p.Ala1043Asp SP substitution exon 1 VAR_051732 P46063:p.Val372Ile SP substitution exon 1 VAR_051733 O94762:p.Ser628Asn SP substitution exon 1 VAR_051734 P36873:p.Phe152Ser SP substitution exon 1 VAR_051735 P67775:p.Val52Ala SP substitution exon 1 VAR_051736 O14829:p.Lys367Thr SP substitution exon 1 VAR_051737 O14829:p.Gly443Ser SP substitution exon 1 VAR_051738 Q00005:p.Gly36Val SP substitution exon 1 VAR_051739 Q06190:p.Asp67Gly SP substitution exon 1 VAR_051740 Q06190:p.Asn108Ser SP substitution exon 1 VAR_051741 Q06190:p.Ala171Ser SP substitution exon 1 VAR_051742 Q06190:p.Pro481Ala SP substitution exon 1 VAR_051743 Q06190:p.Ser642Gly SP substitution exon 1 VAR_051744 Q06190:p.Pro695Leu SP substitution exon 1 VAR_051746 Q9ULJ8:p.Met331Val SP substitution exon 1 VAR_051748 Q8TF05:p.Ser593Asn SP substitution exon 1 VAR_051749 Q9NY27:p.Pro174Leu SP substitution exon 1 VAR_051750 Q16828:p.Ser144Ala SP substitution exon 1 VAR_051751 Q16828:p.Asn313Ile SP substitution exon 1 VAR_051752 Q16829:p.Ser235Asn SP substitution exon 1 VAR_051753 Q9BY84:p.Thr23Met SP substitution exon 1 VAR_051754 Q9BY84:p.Val366Met SP substitution exon 1 VAR_051755 Q8WTR2:p.Ser216Arg SP substitution exon 1 VAR_051756 Q9BVJ7:p.Glu124Val SP substitution exon 1 VAR_051757 Q68J44:p.Asp66Asn SP substitution exon 1 VAR_051758 Q76I76:p.Ser743Leu SP substitution exon 1 VAR_051759 Q76I76:p.Val763Ala SP substitution exon 1 VAR_051760 Q76I76:p.His1300Gln SP substitution exon 1 VAR_051761 P23468:p.Glu1078Asp SP substitution exon 1 VAR_051762 Q16849:p.Ser419Arg SP substitution exon 1 VAR_051763 P08575:p.Ile294Leu SP substitution exon 1 VAR_051764 P08575:p.Thr421Ile SP substitution exon 1 VAR_051765 P08575:p.His568Gln SP substitution exon 1 VAR_051766 Q86WG5:p.Pro303Leu SP substitution exon 1 VAR_051767 Q86WG5:p.Glu679Lys SP substitution exon 1 VAR_051768 Q86WG5:p.Gln1216Glu SP substitution exon 1 VAR_051769 Q16667:p.Ser159Phe SP substitution exon 1 VAR_051770 P45877:p.Lys86Arg SP substitution exon 1 VAR_051771 Q08752:p.Asp196Val SP substitution exon 1 VAR_051772 Q9Y3C6:p.Cys36Ser SP substitution exon 1 VAR_051773 P30414:p.Leu861Val SP substitution exon 1 VAR_051774 P30414:p.Ser935Leu SP substitution exon 1 VAR_051775 P00390:p.Gly232Arg SP substitution exon 1 VAR_051776 Q16881:p.Asp365Gly SP substitution exon 1 VAR_051777 Q9NNW7:p.Arg14Leu SP substitution exon 1 VAR_051778 Q9NNW7:p.Ala66Ser SP substitution exon 1 VAR_051779 Q9NNW7:p.Ser299Arg SP substitution exon 1 VAR_051780 Q9NNW7:p.Ile370Thr SP substitution exon 1 VAR_051781 Q00653:p.Ala392Gly SP substitution exon 1 VAR_051782 Q01201:p.Thr396Met SP substitution exon 1 VAR_051783 Q13469:p.His446Arg SP substitution exon 1 VAR_051784 Q12968:p.Ser75Leu SP substitution exon 1 VAR_051785 Q12968:p.Glu94Ala SP substitution exon 1 VAR_051786 Q12968:p.Leu100Ser SP substitution exon 1 VAR_051787 Q12968:p.Pro136Leu SP substitution exon 1 VAR_051788 Q12968:p.Pro382Ser SP substitution exon 1 VAR_051790 Q8TCT8:p.Val90Ile SP substitution exon 1 VAR_051791 Q9BQ08:p.Pro20Leu SP substitution exon 1 VAR_051792 P54886:p.Thr299Ile SP substitution exon 1 VAR_051793 P54886:p.Ser372Tyr SP substitution exon 1 VAR_051794 P49796:p.Arg129Lys SP substitution exon 1 VAR_051796 O75916:p.Ser258Leu SP substitution exon 1 VAR_051797 Q8NE09:p.Arg397Met SP substitution exon 1 VAR_051799 Q16762:p.Glu102Asp SP substitution exon 1 VAR_051800 Q16762:p.Glu228Gly SP substitution exon 1 VAR_051801 P26373:p.Ala112Thr SP substitution exon 1 VAR_051802 P26373:p.Thr170Pro SP substitution exon 1 VAR_051803 Q9NZE8:p.Pro81Leu SP substitution exon 1 VAR_051804 Q9Y3U8:p.Lys67Glu SP substitution exon 1 VAR_051805 Q03154:p.Asn179Ser SP substitution exon 1 VAR_051806 P02786:p.Leu212Val SP substitution exon 1 VAR_051807 P02786:p.Gly420Ser SP substitution exon 1 VAR_051809 Q969Q0:p.Ile66Val SP substitution exon 1 VAR_051810 Q02878:p.Lys237Glu SP substitution exon 1 VAR_051811 P78345:p.Ile86Val SP substitution exon 1 VAR_051812 P78345:p.Ser202Arg SP substitution exon 1 VAR_051813 P78345:p.Arg250Gly SP substitution exon 1 VAR_051814 Q5VVJ2:p.Cys200Ser SP substitution exon 1 VAR_051815 Q5VVJ2:p.Thr264Ala SP substitution exon 1 VAR_051816 Q5VVJ2:p.Glu825Lys SP substitution exon 1 VAR_051817 Q96FJ0:p.Ser196Asn SP substitution exon 1 VAR_051818 Q96FJ0:p.Glu204Lys SP substitution exon 1 VAR_051819 Q96FJ0:p.Ala210Thr SP substitution exon 1 VAR_051820 O15235:p.His8Arg SP substitution exon 1 VAR_051821 P09958:p.Ala43Val SP substitution exon 1 VAR_051822 Q14703:p.Ile6Thr SP substitution exon 1 VAR_051823 Q14703:p.Arg90Gly SP substitution exon 1 VAR_051824 P29122:p.Cys502Arg SP substitution exon 1 VAR_051825 P82921:p.Arg50Cys SP substitution exon 1 VAR_051826 Q9NQE7:p.Ser104Ile SP substitution exon 1 VAR_051827 Q9NQE7:p.Ala204Gly SP substitution exon 1 VAR_051828 P07099:p.Thr275Ala SP substitution exon 1 VAR_051829 P51124:p.Arg221Gly SP substitution exon 1 VAR_051830 Q15661:p.His136Arg SP substitution exon 1 VAR_051831 P48740:p.Thr21Ile SP substitution exon 1 VAR_051832 P48740:p.Val568Ala SP substitution exon 1 VAR_051833 P48740:p.Gly679Arg SP substitution exon 1 VAR_051834 P40313:p.Thr150Ile SP substitution exon 1 VAR_051835 P56730:p.Ala606Ser SP substitution exon 1 VAR_051836 P56730:p.Arg833Gln SP substitution exon 1 VAR_051837 P08217:p.Asn257Ser SP substitution exon 1 VAR_051838 P09093:p.Ala241Gly SP substitution exon 1 VAR_051839 Q6UWY2:p.Pro143Leu SP substitution exon 1 VAR_051840 Q9Y6M0:p.Arg264Gln SP substitution exon 1 VAR_051841 Q8IU80:p.Lys253Glu SP substitution exon 1 VAR_051842 Q8IU80:p.Ser288Leu SP substitution exon 1 VAR_051843 Q8IU80:p.Val736Ala SP substitution exon 1 VAR_051844 Q8IU80:p.Gly763Asp SP substitution exon 1 VAR_051845 Q7Z410:p.Thr4Ala SP substitution exon 1 VAR_051846 Q7Z410:p.Ala456Thr SP substitution exon 1 VAR_051848 Q86WS5:p.Tyr19His SP substitution exon 1 VAR_051849 Q86WS5:p.Glu62Lys SP substitution exon 1 VAR_051850 Q86WS5:p.Ala127Thr SP substitution exon 1 VAR_051851 Q04756:p.Ala218Ser SP substitution exon 1 VAR_051852 P07288:p.Ile179Thr SP substitution exon 1 VAR_051855 O60259:p.Val154Ile SP substitution exon 1 VAR_051856 Q9UBX7:p.Ala32Thr SP substitution exon 1 VAR_051857 Q9UKR3:p.His109Tyr SP substitution exon 1 VAR_051859 Q9UI38:p.Gln75Pro SP substitution exon 1 VAR_051860 Q9UI38:p.Val98Ile SP substitution exon 1 VAR_051861 P62241:p.Arg110Gly SP substitution exon 1 VAR_051862 O95478:p.Arg11Cys SP substitution exon 1 VAR_051863 P47985:p.Ser6Ala SP substitution exon 1 VAR_051864 Q9NWS8:p.Ser42Ile SP substitution exon 1 VAR_051865 Q9NWS8:p.Arg47His SP substitution exon 1 VAR_051866 Q9NRR4:p.Pro67Thr SP substitution exon 1 VAR_051867 Q06265:p.Ile366Val SP substitution exon 1 VAR_051868 Q9NQT4:p.Cys33Trp SP substitution exon 1 VAR_051869 Q8N0Z8:p.Arg197Trp SP substitution exon 1 VAR_051870 P78346:p.Gly12Asp SP substitution exon 1 VAR_051871 Q9H814:p.Arg82Cys SP substitution exon 1 VAR_051872 P24928:p.Arg292Cys SP substitution exon 1 VAR_051873 O14802:p.Arg582Leu SP substitution exon 1 VAR_051874 O14802:p.Lys713Asn SP substitution exon 1 VAR_051875 O15446:p.Lys259Thr SP substitution exon 1 VAR_051876 O15446:p.Thr282Ala SP substitution exon 1 VAR_051877 O15446:p.Lys373Glu SP substitution exon 1 VAR_051878 O15446:p.Asp394Asn SP substitution exon 1 VAR_051879 O15446:p.Lys503Gln SP substitution exon 1 VAR_051880 O15446:p.Gln504Lys SP substitution exon 1 VAR_051881 P30520:p.Leu179Phe SP substitution exon 1 VAR_051882 P22102:p.Asp510Gly SP substitution exon 1 VAR_051883 P22102:p.Pro641Ala SP substitution exon 1 VAR_051884 P22234:p.Lys201Asn SP substitution exon 1 VAR_051885 Q96E11:p.Met216Val SP substitution exon 1 VAR_051886 Q9NYV6:p.Ile348Met SP substitution exon 1 VAR_051887 Q15050:p.Gln116His SP substitution exon 1 VAR_051888 Q15050:p.Lys126Arg SP substitution exon 1 VAR_051889 Q96P11:p.Pro183Ser SP substitution exon 1 VAR_051890 P21817:p.Ala291Thr SP substitution exon 1 VAR_051891 P21817:p.Val2509Ile SP substitution exon 1 VAR_051892 P21817:p.Glu2779Lys SP substitution exon 1 VAR_051893 P35542:p.Cys89Tyr SP substitution exon 1 VAR_051894 Q9Y692:p.Val14Ala SP substitution exon 1 VAR_051895 Q6NUJ1:p.Ala268Ser SP substitution exon 1 VAR_051896 Q6NUJ1:p.Val296Met SP substitution exon 1 VAR_051897 Q9NQZ2:p.Thr23Met SP substitution exon 1 VAR_051898 Q8NEJ9:p.Val15Leu SP substitution exon 1 VAR_051899 Q8NEJ9:p.Lys308Ile SP substitution exon 1 VAR_051900 P62826:p.Arg95Ile SP substitution exon 1 VAR_051901 Q8IV61:p.Thr393Ala SP substitution exon 1 VAR_051902 Q76NI1:p.Ala1332Thr SP substitution exon 1 VAR_051905 Q8IZJ4:p.Arg37Cys SP substitution exon 1 VAR_051906 Q8IZJ4:p.Thr216Met SP substitution exon 1 VAR_051907 Q8IZJ4:p.Glu297Lys SP substitution exon 1 VAR_051908 Q8IZJ4:p.Asp358Val SP substitution exon 1 VAR_051909 P06400:p.Asn133His SP substitution exon 1 VAR_051910 P06400:p.Leu569Phe SP substitution exon 1 VAR_051911 P06400:p.Asp697Glu SP substitution exon 1 VAR_051912 O43819:p.Ala259Val SP substitution exon 1 VAR_051913 Q99470:p.Ala15Thr SP substitution exon 1 VAR_051914 Q9UDX3:p.Arg124Gly SP substitution exon 1 VAR_051915 Q9UDX3:p.Val200Met SP substitution exon 1 VAR_051916 Q9UDX3:p.Glu211Lys SP substitution exon 1 VAR_051917 Q7Z465:p.Ser65Asn SP substitution exon 1 VAR_051918 Q7Z465:p.Ser226Asn SP substitution exon 1 VAR_051919 Q86VW0:p.Val563Ala SP substitution exon 1 VAR_051920 Q9UIA0:p.Met74Val SP substitution exon 1 VAR_051921 Q8NDX1:p.Gly83Arg SP substitution exon 1 VAR_051922 Q8NDX1:p.Ser233Pro SP substitution exon 1 VAR_051923 Q8NDX1:p.Arg637Gln SP substitution exon 1 VAR_051924 Q8NDX1:p.Ile658Val SP substitution exon 1 VAR_051925 Q5TH69:p.Glu413Asp SP substitution exon 1 VAR_051926 Q92538:p.Gly1693Ser SP substitution exon 1 VAR_051927 Q6DN90:p.Pro640Ser SP substitution exon 1 VAR_051928 Q99985:p.Phe302Ser SP substitution exon 1 VAR_051929 Q9NS98:p.Ser180Asn SP substitution exon 1 VAR_051930 Q9NS98:p.Val332Ile SP substitution exon 1 VAR_051931 Q8NFY4:p.Asn307Ser SP substitution exon 1 VAR_051932 Q8NFY4:p.Ser478Asn SP substitution exon 1 VAR_051933 Q8NFY4:p.Ser969Thr SP substitution exon 1 VAR_051934 Q8WYJ6:p.Gly80Val SP substitution exon 1 VAR_051935 O43236:p.Glu311Val SP substitution exon 1 VAR_051936 Q9P0V9:p.Leu189Pro SP substitution exon 1 VAR_051937 P84101:p.Asp40Tyr SP substitution exon 1 VAR_051938 P01009:p.Thr37Ala SP substitution exon 1 VAR_051939 P01019:p.Gly114Cys SP substitution exon 1 VAR_051940 Q9UK55:p.Leu158Gln SP substitution exon 1 VAR_051941 Q9UK55:p.Arg196His SP substitution exon 1 VAR_051942 Q9UK55:p.Gln384Arg SP substitution exon 1 VAR_051943 Q8IW75:p.Gln142Lys SP substitution exon 1 VAR_051944 Q8IW75:p.Ile394Val SP substitution exon 1 VAR_051945 P30740:p.Ala82Val SP substitution exon 1 VAR_051946 P05120:p.Gly374Ala SP substitution exon 1 VAR_051949 P48595:p.Ser3Ala SP substitution exon 1 VAR_051950 P48595:p.Gly135Asp SP substitution exon 1 VAR_051951 P48595:p.Asp360Asn SP substitution exon 1 VAR_051952 Q96P63:p.Asn338Ser SP substitution exon 1 VAR_051953 P05546:p.Ser87Asn SP substitution exon 1 VAR_051954 P05546:p.Leu129Val SP substitution exon 1 VAR_051955 P07093:p.Ile51Met SP substitution exon 1 VAR_051956 P08697:p.Ala98Gly SP substitution exon 1 VAR_051957 O75830:p.Leu6Val SP substitution exon 1 VAR_051958 P58005:p.Arg71Cys SP substitution exon 1 VAR_051959 P58005:p.Ile227Thr SP substitution exon 1 VAR_051960 P26358:p.Ile311Val SP substitution exon 1 VAR_051961 O14717:p.His101Tyr SP substitution exon 1 VAR_051962 Q9UJW3:p.Arg278Gly SP substitution exon 1 VAR_051963 Q96HF1:p.Ala45Val SP substitution exon 1 VAR_051964 Q6FHJ7:p.Pro320Thr SP substitution exon 1 VAR_051965 Q6FHJ7:p.Arg340Lys SP substitution exon 1 VAR_051966 Q9H9B4:p.Asn26Ser SP substitution exon 1 VAR_051968 Q5FBB7:p.Val171Ala SP substitution exon 1 VAR_051969 Q5FBB7:p.Gln322Pro SP substitution exon 1 VAR_051970 O95905:p.Arg45Gln SP substitution exon 1 VAR_051974 P08134:p.Asp120His SP substitution exon 1 VAR_051975 Q7L0Q8:p.Thr121Ala SP substitution exon 1 VAR_051976 Q96EB6:p.Val484Asp SP substitution exon 1 VAR_051977 Q9NTG7:p.Arg80Trp SP substitution exon 1 VAR_051978 Q9NTG7:p.Val208Ile SP substitution exon 1 VAR_051980 Q9NXA8:p.Glu305Gly SP substitution exon 1 VAR_051981 Q15052:p.Gln297His SP substitution exon 1 VAR_051983 P11274:p.Lys558Thr SP substitution exon 1 VAR_051984 Q008S8:p.Gln483His SP substitution exon 1 VAR_051985 Q6ZV73:p.Glu1393Lys SP substitution exon 1 VAR_051986 Q12802:p.Lys526Gln SP substitution exon 1 VAR_051987 Q12802:p.Ser1525Gly SP substitution exon 1 VAR_051988 Q9ULL1:p.Gln787Arg SP substitution exon 1 VAR_051991 Q13009:p.Gly247Arg SP substitution exon 1 VAR_051992 Q13009:p.Gly247Val SP substitution exon 1 VAR_051993 Q13009:p.Gln844His SP substitution exon 1 VAR_051994 Q8IVF5:p.Arg332His SP substitution exon 1 VAR_051995 Q8IVF5:p.Arg913His SP substitution exon 1 VAR_051997 P15498:p.Thr739Met SP substitution exon 1 VAR_051998 Q9UKW4:p.Pro616Ser SP substitution exon 1 VAR_051999 P63208:p.Phe14Leu SP substitution exon 1 VAR_052000 Q13183:p.Met45Leu SP substitution exon 1 VAR_052001 P52815:p.Ser105Pro SP substitution exon 1 VAR_052002 P54219:p.Arg11Gln SP substitution exon 1 VAR_052003 Q6PML9:p.Met50Val SP substitution exon 1 VAR_052004 Q6PML9:p.Thr97Ala SP substitution exon 1 VAR_052006 Q9NX20:p.Gly29Ser SP substitution exon 1 VAR_052007 Q9NX20:p.Arg199Gln SP substitution exon 1 VAR_052008 Q9NX20:p.Arg207Cys SP substitution exon 1 VAR_052009 P46777:p.Tyr210Cys SP substitution exon 1 VAR_052010 O94769:p.Thr109Ser SP substitution exon 1 VAR_052011 O94769:p.Arg204Gln SP substitution exon 1 VAR_052012 P51888:p.Met157Val SP substitution exon 1 VAR_052013 P51888:p.Asn334Ser SP substitution exon 1 VAR_052014 Q99983:p.Asp200Gly SP substitution exon 1 VAR_052015 Q99983:p.Glu212Gly SP substitution exon 1 VAR_052016 Q99983:p.Ser221Asn SP substitution exon 1 VAR_052017 Q99983:p.Ile282Thr SP substitution exon 1 VAR_052018 Q99983:p.Cys353Trp SP substitution exon 1 VAR_052019 O15335:p.Arg312Gln SP substitution exon 1 VAR_052020 Q9GZU5:p.Ala406Gly SP substitution exon 1 VAR_052021 P84022:p.Ile170Val SP substitution exon 1 VAR_052022 Q13485:p.Trp101Gly SP substitution exon 1 VAR_052023 Q9P0M9:p.Thr24Ala SP substitution exon 1 VAR_052024 Q13084:p.Asp160Glu SP substitution exon 1 VAR_052025 Q8NHU3:p.Thr21Met SP substitution exon 1 VAR_052026 Q9H115:p.Ala61Thr SP substitution exon 1 VAR_052027 Q99747:p.Pro92Ser SP substitution exon 1 VAR_052028 Q96CF2:p.Ala232Thr SP substitution exon 1 VAR_052029 Q9NZZ3:p.Ser86Pro SP substitution exon 1 VAR_052030 P09661:p.Arg234His SP substitution exon 1 VAR_052032 O14508:p.Ser52Asn SP substitution exon 1 VAR_052033 Q9BR09:p.Glu211Lys SP substitution exon 1 VAR_052034 Q6PJ21:p.Ser171Leu SP substitution exon 1 VAR_052036 Q16515:p.Asp354Gly SP substitution exon 1 VAR_052037 Q9UHC3:p.Asn228Ser SP substitution exon 1 VAR_052038 Q96FT7:p.Pro614Gln SP substitution exon 1 VAR_052039 Q96FT7:p.Arg616Leu SP substitution exon 1 VAR_052040 P39023:p.Ile78Thr SP substitution exon 1 VAR_052041 Q9NYK5:p.Ser31Pro SP substitution exon 1 VAR_052042 Q9HD33:p.Cys10Gly SP substitution exon 1 VAR_052045 Q7Z7F7:p.Arg42His SP substitution exon 1 VAR_052046 Q9H2W6:p.His106Tyr SP substitution exon 1 VAR_052047 Q9Y2Q9:p.Arg103Trp SP substitution exon 1 VAR_052048 Q9NP92:p.Ala102Val SP substitution exon 1 VAR_052049 Q92665:p.Thr241Met SP substitution exon 1 VAR_052050 P82930:p.Leu33Ile SP substitution exon 1 VAR_052051 P82673:p.Leu6Ile SP substitution exon 1 VAR_052054 P82912:p.Arg10Trp SP substitution exon 1 VAR_052055 P82912:p.Gln51His SP substitution exon 1 VAR_052057 P48449:p.His310Arg SP substitution exon 1 VAR_052058 P48449:p.Arg614Trp SP substitution exon 1 VAR_052060 Q9HD15:p.Gln32Glu SP substitution exon 1 VAR_052061 P21757:p.Thr269Ile SP substitution exon 1 VAR_052062 Q6ZMJ2:p.Ala45Thr SP substitution exon 1 VAR_052063 Q8WTU2:p.Arg128His SP substitution exon 1 VAR_052064 Q9UH36:p.Ala99Thr SP substitution exon 1 VAR_052065 Q9H2J7:p.Ala400Val SP substitution exon 1 VAR_052066 Q9H2J7:p.Ile603Met SP substitution exon 1 VAR_052067 Q9GZN6:p.Ser108Arg SP substitution exon 1 VAR_052068 Q9NP91:p.Thr199Met SP substitution exon 1 VAR_052069 P46781:p.Leu25Phe SP substitution exon 1 VAR_052070 Q9UKL6:p.Glu10Ala SP substitution exon 1 VAR_052071 Q9NSY2:p.Gly74Ser SP substitution exon 1 VAR_052072 P52630:p.Cys246Ser SP substitution exon 1 VAR_052073 P42229:p.Arg389His SP substitution exon 1 VAR_052074 P51692:p.Ala130Val SP substitution exon 1 VAR_052075 Q9NZS9:p.Met140Arg SP substitution exon 1 VAR_052076 Q9NZS9:p.Arg245His SP substitution exon 1 VAR_052077 P38398:p.Ser153Arg SP substitution exon 1 VAR_052081 Q99675:p.Cys117Tyr SP substitution exon 1 VAR_052082 Q9NW38:p.Ser144Phe SP substitution exon 1 VAR_052085 Q9H000:p.Arg388Gln SP substitution exon 1 VAR_052086 O75592:p.Ala1881Ser SP substitution exon 1 VAR_052087 P35226:p.Cys18Tyr SP substitution exon 1 VAR_052091 O75679:p.Met83Thr SP substitution exon 1 VAR_052092 O75679:p.Leu110Met SP substitution exon 1 VAR_052093 O75679:p.Asp126Asn SP substitution exon 1 VAR_052094 Q9Y252:p.Val203Glu SP substitution exon 1 VAR_052095 Q9Y252:p.Ser623Asn SP substitution exon 1 VAR_052096 O76064:p.Ala162Thr SP substitution exon 1 VAR_052098 Q9BXT8:p.Ala573Pro SP substitution exon 1 VAR_052099 Q9BXT8:p.His667Arg SP substitution exon 1 VAR_052100 Q9BXT8:p.Asn1110Lys SP substitution exon 1 VAR_052103 Q68DV7:p.Arg343His SP substitution exon 1 VAR_052104 Q8IZP6:p.Val92Met SP substitution exon 1 VAR_052105 Q9Y4L5:p.Gly194Arg SP substitution exon 1 VAR_052106 Q5XPI4:p.Arg387Gln SP substitution exon 1 VAR_052107 Q5XPI4:p.Lys596Glu SP substitution exon 1 VAR_052108 Q5XPI4:p.Arg854His SP substitution exon 1 VAR_052109 Q8WVD3:p.Lys81Arg SP substitution exon 1 VAR_052111 Q9NXI6:p.Pro208Thr SP substitution exon 1 VAR_052112 Q6ZRF8:p.Ala421Thr SP substitution exon 1 VAR_052113 Q6ZRF8:p.Asn573Ser SP substitution exon 1 VAR_052114 Q6ZRF8:p.Gly603Ala SP substitution exon 1 VAR_052116 Q8IWV7:p.Ile899Val SP substitution exon 1 VAR_052117 Q8IWV8:p.Glu172Asp SP substitution exon 1 VAR_052118 Q8TEC5:p.Phe16Ser SP substitution exon 1 VAR_052119 Q8TEC5:p.Phe174Val SP substitution exon 1 VAR_052120 Q8TEC5:p.Arg477Gln SP substitution exon 1 VAR_052121 Q14527:p.Asn311Ser SP substitution exon 1 VAR_052122 Q14527:p.Glu362Gln SP substitution exon 1 VAR_052123 Q9UJV3:p.Ala378Asp SP substitution exon 1 VAR_052124 O75382:p.Leu298Arg SP substitution exon 1 VAR_052125 Q9C029:p.Val258Ala SP substitution exon 1 VAR_052134 Q8IYM9:p.Asp155Asn SP substitution exon 1 VAR_052135 Q8IYM9:p.Thr232Ala SP substitution exon 1 VAR_052136 Q8IYM9:p.Arg242Thr SP substitution exon 1 VAR_052137 Q8IYM9:p.Arg321Lys SP substitution exon 1 VAR_052142 O94972:p.Val838Ile SP substitution exon 1 VAR_052143 Q8IWZ5:p.Lys244Arg SP substitution exon 1 VAR_052144 Q9BYV6:p.Lys343Arg SP substitution exon 1 VAR_052145 Q8N9V2:p.Glu132Lys SP substitution exon 1 VAR_052147 Q86UK7:p.Thr637Met SP substitution exon 1 VAR_052148 O15164:p.Asn796Ser SP substitution exon 1 VAR_052149 Q13114:p.Met129Thr SP substitution exon 1 VAR_052150 Q9BUZ4:p.Arg178Gly SP substitution exon 1 VAR_052151 O00463:p.Val120Gly SP substitution exon 1 VAR_052152 O00463:p.Leu358Val SP substitution exon 1 VAR_052153 O76062:p.Ala119Val SP substitution exon 1 VAR_052154 Q9UBM7:p.Gly425Ser SP substitution exon 1 VAR_052155 Q14739:p.Arg169Cys SP substitution exon 1 VAR_052156 Q9Y6Q2:p.Lys8Asn SP substitution exon 1 VAR_052157 Q05952:p.Arg131Trp SP substitution exon 1 VAR_052158 Q14240:p.Gln93His SP substitution exon 1 VAR_052159 Q9NQI0:p.Ile287Val SP substitution exon 1 VAR_052160 Q9UMR2:p.Val149Leu SP substitution exon 1 VAR_052161 Q9NR30:p.Thr27Ile SP substitution exon 1 VAR_052162 Q9GZR7:p.Glu316Lys SP substitution exon 1 VAR_052163 Q9NUL7:p.Thr4Ala SP substitution exon 1 VAR_052164 Q9H8H2:p.Glu153Lys SP substitution exon 1 VAR_052166 O00148:p.Val142Ile SP substitution exon 1 VAR_052168 Q86TM3:p.Val62Ala SP substitution exon 1 VAR_052169 Q86TM3:p.Met381Ile SP substitution exon 1 VAR_052170 Q86TM3:p.Arg391Met SP substitution exon 1 VAR_052171 Q8TDD1:p.Arg570His SP substitution exon 1 VAR_052172 Q8TDD1:p.Arg693Gln SP substitution exon 1 VAR_052173 Q8TDD1:p.Val712Ala SP substitution exon 1 VAR_052175 Q96FC9:p.Arg856His SP substitution exon 1 VAR_052176 Q96FC9:p.Cys864Arg SP substitution exon 1 VAR_052177 Q96FC9:p.Cys951Arg SP substitution exon 1 VAR_052178 Q96FC9:p.Trp966Cys SP substitution exon 1 VAR_052179 Q08211:p.Ile894Val SP substitution exon 1 VAR_052180 Q7Z478:p.Asp309Ala SP substitution exon 1 VAR_052181 Q7L7V1:p.Glu271Asp SP substitution exon 1 VAR_052182 Q7L7V1:p.Asp301Ala SP substitution exon 1 VAR_052183 Q7L7V1:p.Val430Leu SP substitution exon 1 VAR_052184 Q9H5Z1:p.Ile189Thr SP substitution exon 1 VAR_052185 Q8IY37:p.Arg458Gln SP substitution exon 1 VAR_052186 Q8IY37:p.Lys508Asn SP substitution exon 1 VAR_052187 Q8IY37:p.Val717Ile SP substitution exon 1 VAR_052188 Q8IY37:p.Ser869Gly SP substitution exon 1 VAR_052189 Q8IY37:p.Arg1081Gln SP substitution exon 1 VAR_052190 Q6P158:p.Ser410Phe SP substitution exon 1 VAR_052191 Q6P158:p.Asn587Ser SP substitution exon 1 VAR_052192 Q9BX63:p.Ile633Met SP substitution exon 1 VAR_052193 Q9BX63:p.Asp1148Glu SP substitution exon 1 VAR_052194 Q8TDE3:p.Pro10Ser SP substitution exon 1 VAR_052195 Q8TAA1:p.Pro5Ser SP substitution exon 1 VAR_052196 Q8TAA1:p.Thr74Ser SP substitution exon 1 VAR_052197 P60153:p.Phe148Ser SP substitution exon 1 VAR_052198 Q5GAN6:p.Ser131Asn SP substitution exon 1 VAR_052199 O75683:p.Arg193Gln SP substitution exon 1 VAR_052200 O75683:p.Asn201His SP substitution exon 1 VAR_052201 Q9NQ94:p.Val555Met SP substitution exon 1 VAR_052203 Q9BZC1:p.Gly388Ser SP substitution exon 1 VAR_052204 P26378:p.Pro270Ser SP substitution exon 1 VAR_052205 Q8TC92:p.Glu16Asp SP substitution exon 1 VAR_052206 O43719:p.Asn526Thr SP substitution exon 1 VAR_052207 O43719:p.Asp678Gly SP substitution exon 1 VAR_052208 Q96T58:p.Asp1363Glu SP substitution exon 1 VAR_052209 Q9P2K5:p.Ala91Thr SP substitution exon 1 VAR_052210 Q9P2K5:p.Ser465Gly SP substitution exon 1 VAR_052211 Q76FK4:p.Val748Leu SP substitution exon 1 VAR_052212 Q76FK4:p.Asp841Glu SP substitution exon 1 VAR_052213 Q76FK4:p.Glu988Asp SP substitution exon 1 VAR_052214 Q76FK4:p.Gly1021Ser SP substitution exon 1 VAR_052215 Q9UKM9:p.Val139Met SP substitution exon 1 VAR_052217 Q9NTZ6:p.Asn572Ser SP substitution exon 1 VAR_052218 Q9NTZ6:p.Pro921Leu SP substitution exon 1 VAR_052219 Q8IXT5:p.Asn864His SP substitution exon 1 VAR_052220 Q9UPN6:p.Ser865Asn SP substitution exon 1 VAR_052221 Q86U06:p.Asp184Asn SP substitution exon 1 VAR_052223 Q96EV2:p.Thr574Ala SP substitution exon 1 VAR_052224 P07910:p.Arg167Gln SP substitution exon 1 VAR_052225 O60812:p.Gln208His SP substitution exon 1 VAR_052226 P31942:p.Gly284Ala SP substitution exon 1 VAR_052227 Q9Y3A4:p.Leu75Met SP substitution exon 1 VAR_052228 Q9Y3A4:p.Val85Ile SP substitution exon 1 VAR_052229 Q9Y3A4:p.Val88Ile SP substitution exon 1 VAR_052230 Q08170:p.Glu253Asp SP substitution exon 1 VAR_052231 Q08170:p.Gly338Ala SP substitution exon 1 VAR_052232 Q08170:p.Gly356Ser SP substitution exon 1 VAR_052233 Q08170:p.Gln438Glu SP substitution exon 1 VAR_052234 O95104:p.Ser846Tyr SP substitution exon 1 VAR_052235 Q9H7N4:p.Thr895Ala SP substitution exon 1 VAR_052236 Q9H7N4:p.Met1146Thr SP substitution exon 1 VAR_052237 Q9HCJ0:p.Pro820Arg SP substitution exon 1 VAR_052239 Q9H2B2:p.Ser142Asn SP substitution exon 1 VAR_052240 O00445:p.Glu4Asp SP substitution exon 1 VAR_052241 O43581:p.Ile332Asn SP substitution exon 1 VAR_052242 P18827:p.Thr76Met SP substitution exon 1 VAR_052243 P18827:p.Leu136Gln SP substitution exon 1 VAR_052245 O95473:p.Arg27Trp SP substitution exon 1 VAR_052246 Q13277:p.Gly276Ser SP substitution exon 1 VAR_052247 Q13277:p.Ser285Pro SP substitution exon 1 VAR_052248 Q13190:p.Pro51Leu SP substitution exon 1 VAR_052249 Q13190:p.Gln72His SP substitution exon 1 VAR_052250 Q9P2W9:p.Asp32Tyr SP substitution exon 1 VAR_052251 Q9P2W9:p.Ser51Gly SP substitution exon 1 VAR_052252 Q9P2W9:p.Ser228Thr SP substitution exon 1 VAR_052253 Q15573:p.Ile98Met SP substitution exon 1 VAR_052254 Q5VWG9:p.Ser349Thr SP substitution exon 1 VAR_052255 Q5VWG9:p.Asn442Ser SP substitution exon 1 VAR_052256 Q5VWG9:p.Val696Ala SP substitution exon 1 VAR_052257 Q5VWG9:p.Val696Leu SP substitution exon 1 VAR_052258 O00268:p.Pro651Leu SP substitution exon 1 VAR_052259 Q92750:p.Ile249Val SP substitution exon 1 VAR_052260 Q16594:p.Gln210His SP substitution exon 1 VAR_052261 Q15544:p.Ser155Phe SP substitution exon 1 VAR_052262 O75333:p.Gln160His SP substitution exon 1 VAR_052263 O95935:p.Gly48Arg SP substitution exon 1 VAR_052264 Q16650:p.His289Gln SP substitution exon 1 VAR_052265 P49368:p.Leu391Phe SP substitution exon 1 VAR_052266 P50991:p.Ile112Val SP substitution exon 1 VAR_052267 P48643:p.Glu146Val SP substitution exon 1 VAR_052268 P40227:p.Tyr229Cys SP substitution exon 1 VAR_052269 Q99832:p.Thr259Ala SP substitution exon 1 VAR_052270 P50990:p.His4Gln SP substitution exon 1 VAR_052271 P50990:p.Val409Ile SP substitution exon 1 VAR_052272 Q8TAM1:p.Pro539Leu SP substitution exon 1 VAR_052274 P14678:p.Ser79Pro SP substitution exon 1 VAR_052275 Q9NRX5:p.Leu199Val SP substitution exon 1 VAR_052276 Q9NRX5:p.Phe216Val SP substitution exon 1 VAR_052277 Q9NRX5:p.Ser225Gly SP substitution exon 1 VAR_052278 Q99594:p.Thr254Met SP substitution exon 1 VAR_052280 P13726:p.Gly281Glu SP substitution exon 1 VAR_052281 P29084:p.Ile133Thr SP substitution exon 1 VAR_052282 Q9UH99:p.Thr33Ala SP substitution exon 1 VAR_052283 Q9UH99:p.Leu89Arg SP substitution exon 1 VAR_052284 Q9UH99:p.Arg348Cys SP substitution exon 1 VAR_052285 Q8TC36:p.Ile120Val SP substitution exon 1 VAR_052286 P23526:p.Arg38Trp SP substitution exon 1 VAR_052288 Q8NA92:p.Arg185Gln SP substitution exon 1 VAR_052289 Q8NA92:p.Arg189Trp SP substitution exon 1 VAR_052290 O75891:p.Leu254Pro SP substitution exon 1 VAR_052291 O75891:p.Val330Phe SP substitution exon 1 VAR_052292 O75891:p.Glu429Ala SP substitution exon 1 VAR_052293 O75891:p.Ala436Thr SP substitution exon 1 VAR_052294 O75891:p.Ala436Val SP substitution exon 1 VAR_052295 O75891:p.Ser448Asn SP substitution exon 1 VAR_052296 O75891:p.Ser481Gly SP substitution exon 1 VAR_052297 O75891:p.Asp793Gly SP substitution exon 1 VAR_052298 O75891:p.Glu803Lys SP substitution exon 1 VAR_052299 O75891:p.Ile812Val SP substitution exon 1 VAR_052300 Q8N9L9:p.Arg57Cys SP substitution exon 1 VAR_052301 Q8N9L9:p.Ala187Asp SP substitution exon 1 VAR_052302 Q3I5F7:p.Glu166Lys SP substitution exon 1 VAR_052303 Q14032:p.Arg20Gln SP substitution exon 1 VAR_052304 P63313:p.Met7Arg SP substitution exon 1 VAR_052305 Q99595:p.Val113Ile SP substitution exon 1 VAR_052306 Q9BVV7:p.Gly79Ser SP substitution exon 1 VAR_052307 Q9BPX1:p.Asn31Asp SP substitution exon 1 VAR_052308 Q9BPX1:p.Arg130Trp SP substitution exon 1 VAR_052309 P51659:p.Phe90Leu SP substitution exon 1 VAR_052310 P51659:p.Lys140Asn SP substitution exon 1 VAR_052311 P51659:p.Ala427Val SP substitution exon 1 VAR_052312 P51659:p.Ala491Thr SP substitution exon 1 VAR_052317 P80365:p.Arg147His SP substitution exon 1 VAR_052318 Q96LJ7:p.Thr241Ile SP substitution exon 1 VAR_052319 Q9Y394:p.Arg218Gln SP substitution exon 1 VAR_052320 Q9BPW9:p.Asp286His SP substitution exon 1 VAR_052321 Q92781:p.Arg21Gln SP substitution exon 1 VAR_052322 Q92781:p.Arg70Gly SP substitution exon 1 VAR_052323 Q9NZC7:p.Leu216Val SP substitution exon 1 VAR_052324 P26651:p.Pro55Ser SP substitution exon 1 VAR_052325 Q96G23:p.Glu115Ala SP substitution exon 1 VAR_052326 P27701:p.Ile241Val SP substitution exon 1 VAR_052327 O60635:p.Ser38Phe SP substitution exon 1 VAR_052328 O60636:p.Arg118Leu SP substitution exon 1 VAR_052329 Q9UKR8:p.Tyr53Asp SP substitution exon 1 VAR_052330 Q9UKR8:p.Leu55Pro SP substitution exon 1 VAR_052331 Q9UKR8:p.Ser233Cys SP substitution exon 1 VAR_052332 O00322:p.Ser33Ala SP substitution exon 1 VAR_052333 Q8TDI8:p.Glu81Lys SP substitution exon 1 VAR_052334 Q8TDI8:p.Arg141Trp SP substitution exon 1 VAR_052335 Q8TDI8:p.Met486Thr SP substitution exon 1 VAR_052336 Q7Z403:p.Leu153Phe SP substitution exon 1 VAR_052337 Q8IU68:p.Val501Ile SP substitution exon 1 VAR_052338 Q9BVX2:p.Val103Phe SP substitution exon 1 VAR_052339 Q75V66:p.Leu322Phe SP substitution exon 1 VAR_052340 Q75V66:p.Asn882Lys SP substitution exon 1 VAR_052341 Q96FX8:p.Pro143Arg SP substitution exon 1 VAR_052342 Q969K7:p.Leu110Phe SP substitution exon 1 VAR_052343 Q8N661:p.Ala176Thr SP substitution exon 1 VAR_052344 Q8N661:p.His199Arg SP substitution exon 1 VAR_052345 Q99611:p.Pro269Ala SP substitution exon 1 VAR_052346 P36941:p.Val274Ile SP substitution exon 1 VAR_052347 P25445:p.Ile184Val SP substitution exon 1 VAR_052348 P26842:p.His233Arg SP substitution exon 1 VAR_052349 O00220:p.Gly11Val SP substitution exon 1 VAR_052350 O00220:p.Pro105Arg SP substitution exon 1 VAR_052351 O00220:p.Asn297His SP substitution exon 1 VAR_052352 O00220:p.Arg441Lys SP substitution exon 1 VAR_052353 O14836:p.Pro251Leu SP substitution exon 1 VAR_052354 Q9Y5U5:p.Thr43Arg SP substitution exon 1 VAR_052355 Q9Y5U5:p.Glu64Lys SP substitution exon 1 VAR_052356 Q9Y5U5:p.Asp83Asn SP substitution exon 1 VAR_052358 Q15399:p.Leu631Arg SP substitution exon 1 VAR_052359 Q15399:p.Pro733Leu SP substitution exon 1 VAR_052360 O60603:p.Tyr715Asn SP substitution exon 1 VAR_052361 O15455:p.Asn284Ile SP substitution exon 1 VAR_052362 O15455:p.Tyr307Asp SP substitution exon 1 VAR_052363 Q9NR97:p.Arg715Gln SP substitution exon 1 VAR_052364 Q9NR96:p.His79Gln SP substitution exon 1 VAR_052365 Q9NR96:p.Ala882Thr SP substitution exon 1 VAR_052366 Q15388:p.Pro117Leu SP substitution exon 1 VAR_052367 Q15388:p.Val134Leu SP substitution exon 1 VAR_052368 P51580:p.Gln179His SP substitution exon 1 VAR_052369 Q9UL62:p.Arg702His SP substitution exon 1 VAR_052370 Q7Z4N2:p.Ser32Asn SP substitution exon 1 VAR_052371 Q7Z4N2:p.Val605Met SP substitution exon 1 VAR_052372 Q7Z4N2:p.Asn1229Thr SP substitution exon 1 VAR_052373 Q7Z4N2:p.Arg1305His SP substitution exon 1 VAR_052374 Q7Z4N2:p.Val1395Ile SP substitution exon 1 VAR_052375 Q7Z4N2:p.Arg1422Gly SP substitution exon 1 VAR_052376 Q7Z4N2:p.His1498Gln SP substitution exon 1 VAR_052377 Q9NZQ8:p.Asn235Ser SP substitution exon 1 VAR_052378 Q9NZQ8:p.Val335Leu SP substitution exon 1 VAR_052379 Q9NZQ8:p.Ala456Thr SP substitution exon 1 VAR_052380 Q9BX84:p.Phe948Leu SP substitution exon 1 VAR_052381 Q96QT4:p.Ala1033Gly SP substitution exon 1 VAR_052382 Q96QT4:p.Ile1145Val SP substitution exon 1 VAR_052383 Q7Z2W7:p.Arg247Thr SP substitution exon 1 VAR_052384 Q7Z2W7:p.Tyr251Cys SP substitution exon 1 VAR_052385 Q7Z2W7:p.Met462Thr SP substitution exon 1 VAR_052386 Q7Z2W7:p.Thr732Ile SP substitution exon 1 VAR_052387 Q7Z2W7:p.Asn821Ser SP substitution exon 1 VAR_052388 Q8NET8:p.Ile25Val SP substitution exon 1 VAR_052389 Q8NET8:p.Arg117Gly SP substitution exon 1 VAR_052391 Q9HBA0:p.Pro19Ser SP substitution exon 1 VAR_052393 Q9H1D0:p.Arg359Gln SP substitution exon 1 VAR_052394 Q8IZK6:p.Met365Val SP substitution exon 1 VAR_052395 Q8IZK6:p.Lys370Gln SP substitution exon 1 VAR_052396 Q8IYX8:p.Asp194Glu SP substitution exon 1 VAR_052397 Q9Y296:p.Asp78Ala SP substitution exon 1 VAR_052398 Q8IUR0:p.Ser52Ala SP substitution exon 1 VAR_052399 Q9NZR1:p.Pro63Ala SP substitution exon 1 VAR_052401 Q0VAK6:p.Ile263Thr SP substitution exon 1 VAR_052402 P07951:p.Glu273Lys SP substitution exon 1 VAR_052403 P19237:p.Arg67Trp SP substitution exon 1 VAR_052405 Q9BZV2:p.Val350Ala SP substitution exon 1 VAR_052406 P23381:p.Ala54Ser SP substitution exon 1 VAR_052408 O75157:p.Ala419Thr SP substitution exon 1 VAR_052409 O95922:p.Ser168Leu SP substitution exon 1 VAR_052410 Q9Y4R7:p.Glu174Lys SP substitution exon 1 VAR_052411 Q9Y4R7:p.Asn418His SP substitution exon 1 VAR_052412 Q9Y4R7:p.Ala689Thr SP substitution exon 1 VAR_052413 Q14166:p.Arg84Trp SP substitution exon 1 VAR_052414 Q14166:p.Asn95Ser SP substitution exon 1 VAR_052415 Q14166:p.Val297Met SP substitution exon 1 VAR_052416 Q14166:p.Val464Met SP substitution exon 1 VAR_052417 Q9NRJ4:p.Gly214Ser SP substitution exon 1 VAR_052418 Q9NRJ4:p.Ser522Asn SP substitution exon 1 VAR_052419 Q9NRJ4:p.Asp979Asn SP substitution exon 1 VAR_052420 Q9NRJ4:p.Val1084Ile SP substitution exon 1 VAR_052421 Q9NRJ4:p.Pro1281Thr SP substitution exon 1 VAR_052422 Q8NAT2:p.Phe239Val SP substitution exon 1 VAR_052423 O60522:p.Ile795Met SP substitution exon 1 VAR_052424 Q9NNX1:p.Gln18Arg SP substitution exon 1 VAR_052425 O95279:p.Pro465Thr SP substitution exon 1 VAR_052426 Q9Y257:p.Thr150Ile SP substitution exon 1 VAR_052428 P57789:p.Ala512Thr SP substitution exon 1 VAR_052429 Q9HB14:p.Gly305Arg SP substitution exon 1 VAR_052430 Q96T55:p.Pro301His SP substitution exon 1 VAR_052431 Q15819:p.Glu36Gly SP substitution exon 1 VAR_052432 Q15819:p.Asp40His SP substitution exon 1 VAR_052433 Q15819:p.Pro78Gln SP substitution exon 1 VAR_052434 P41226:p.Pro712Ser SP substitution exon 1 VAR_052435 Q13564:p.Ser101Phe SP substitution exon 1 VAR_052436 Q92890:p.Pro130Ala SP substitution exon 1 VAR_052437 O95155:p.Val605Ile SP substitution exon 1 VAR_052438 Q14683:p.Thr28Pro SP substitution exon 1 VAR_052439 Q9NTJ3:p.Ser181Arg SP substitution exon 1 VAR_052440 Q9NTJ3:p.Asn356Ser SP substitution exon 1 VAR_052441 Q96SB8:p.Arg464Gly SP substitution exon 1 VAR_052442 Q96SB8:p.Lys928Gln SP substitution exon 1 VAR_052443 P14927:p.Leu30Pro SP substitution exon 1 VAR_052444 Q9UDW1:p.Ile47Val SP substitution exon 1 VAR_052445 P35503:p.Gln6Arg SP substitution exon 1 VAR_052446 P35503:p.Trp11Arg SP substitution exon 1 VAR_052447 P35503:p.Arg45Trp SP substitution exon 1 VAR_052448 P35503:p.Val47Ala SP substitution exon 1 VAR_052449 P35503:p.Arg49Trp SP substitution exon 1 VAR_052450 P35503:p.Thr78Ile SP substitution exon 1 VAR_052451 P35503:p.Met114Ile SP substitution exon 1 VAR_052452 P35503:p.Thr144Ile SP substitution exon 1 VAR_052453 P35503:p.Met270Val SP substitution exon 1 VAR_052454 P22310:p.Ile176Phe SP substitution exon 1 VAR_052455 P35504:p.Leu48Ser SP substitution exon 1 VAR_052456 P35504:p.Leu63Pro SP substitution exon 1 VAR_052457 P35504:p.Thr144Ser SP substitution exon 1 VAR_052458 P35504:p.Ala158Gly SP substitution exon 1 VAR_052459 P35504:p.His225Tyr SP substitution exon 1 VAR_052460 P35504:p.Val249Leu SP substitution exon 1 VAR_052461 P35504:p.Gly259Arg SP substitution exon 1 VAR_052462 Q9HAW7:p.Arg131Gln SP substitution exon 1 VAR_052463 Q9HAW9:p.His53Asn SP substitution exon 1 VAR_052464 Q9HAW8:p.Glu139Lys SP substitution exon 1 VAR_052465 Q9HAW8:p.Leu244Ile SP substitution exon 1 VAR_052466 Q16880:p.Pro226Leu SP substitution exon 1 VAR_052467 Q16880:p.Ile368Met SP substitution exon 1 VAR_052468 Q8NB66:p.Ser942Leu SP substitution exon 1 VAR_052469 Q70J99:p.Ala59Thr SP substitution exon 1 VAR_052470 O00186:p.Arg295Gln SP substitution exon 1 VAR_052471 Q96AX1:p.Ile256Leu SP substitution exon 1 VAR_052472 Q8IZJ1:p.Ile242Val SP substitution exon 1 VAR_052473 Q86WB7:p.Arg6Lys SP substitution exon 1 VAR_052474 Q86WB7:p.Lys128Gln SP substitution exon 1 VAR_052475 Q86WB7:p.Val295Met SP substitution exon 1 VAR_052476 O94903:p.Val24Met SP substitution exon 1 VAR_052477 Q13596:p.Ser115Tyr SP substitution exon 1 VAR_052478 Q9NRS6:p.Arg334Cys SP substitution exon 1 VAR_052479 P57768:p.Pro98Leu SP substitution exon 1 VAR_052480 Q96RF0:p.Glu571Asp SP substitution exon 1 VAR_052481 Q96RF0:p.Lys593Thr SP substitution exon 1 VAR_052482 Q969T3:p.Ala154Thr SP substitution exon 1 VAR_052483 Q5VWJ9:p.Pro125Ala SP substitution exon 1 VAR_052484 Q96SE0:p.Pro54Gln SP substitution exon 1 VAR_052485 Q9Y3I0:p.Val153Ala SP substitution exon 1 VAR_052486 Q9Y5U8:p.Leu36Ile SP substitution exon 1 VAR_052487 Q15777:p.His67Arg SP substitution exon 1 VAR_052488 O00341:p.Gln537Arg SP substitution exon 1 VAR_052489 Q9NY91:p.Thr4Met SP substitution exon 1 VAR_052490 Q92911:p.Cys298Gly SP substitution exon 1 VAR_052491 Q9Y289:p.Ser481Phe SP substitution exon 1 VAR_052492 Q9Y289:p.Ser492Asn SP substitution exon 1 VAR_052493 A0PJK1:p.Ala522Val SP substitution exon 1 VAR_052494 Q8WWX8:p.Thr47Pro SP substitution exon 1 VAR_052495 Q08945:p.Leu225Val SP substitution exon 1 VAR_052496 Q08945:p.Glu458Gln SP substitution exon 1 VAR_052497 Q9Y6G1:p.Cys37Arg SP substitution exon 1 VAR_052498 Q9Y284:p.Pro104Ala SP substitution exon 1 VAR_052499 Q96I99:p.Lys347Arg SP substitution exon 1 VAR_052500 Q96I99:p.Arg381Trp SP substitution exon 1 VAR_052502 P11169:p.Val85Leu SP substitution exon 1 VAR_052503 P14672:p.Ser55Arg SP substitution exon 1 VAR_052504 Q6PXP3:p.Val135Ile SP substitution exon 1 VAR_052505 P41567:p.Leu59Pro SP substitution exon 1 VAR_052506 P41567:p.Arg90Gly SP substitution exon 1 VAR_052507 P41214:p.Thr210Ile SP substitution exon 1 VAR_052508 P51689:p.Ser224Cys SP substitution exon 1 VAR_052509 P51689:p.Val500Ile SP substitution exon 1 VAR_052510 P51689:p.Met564Thr SP substitution exon 1 VAR_052511 Q96EG1:p.Ala11Val SP substitution exon 1 VAR_052512 Q96EG1:p.Thr236Ser SP substitution exon 1 VAR_052513 Q96EG1:p.Trp274Arg SP substitution exon 1 VAR_052514 Q96EG1:p.Arg385His SP substitution exon 1 VAR_052518 Q8IWU5:p.Arg674His SP substitution exon 1 VAR_052519 Q6IMI6:p.Ala88Thr SP substitution exon 1 VAR_052520 Q06520:p.Ala63Pro SP substitution exon 1 VAR_052521 Q06520:p.Ala261Thr SP substitution exon 1 VAR_052522 Q6IMI4:p.Ala61Thr SP substitution exon 1 VAR_052523 Q6IMI4:p.Val75Asp SP substitution exon 1 VAR_052524 Q6IMI4:p.Lys88Glu SP substitution exon 1 VAR_052525 Q6IMI4:p.Glu167Val SP substitution exon 1 VAR_052526 Q6IMI4:p.Arg181Ser SP substitution exon 1 VAR_052528 Q8NCG5:p.His361Gln SP substitution exon 1 VAR_052529 O14792:p.Lys295Arg SP substitution exon 1 VAR_052530 Q9Y278:p.Pro339Ala SP substitution exon 1 VAR_052531 Q8IZT8:p.Ile247Asn SP substitution exon 1 VAR_052532 Q9Y3B6:p.Ala97Val SP substitution exon 1 VAR_052533 Q5R372:p.Ser277Gly SP substitution exon 1 VAR_052534 O60343:p.Thr1147Met SP substitution exon 1 VAR_052535 O60343:p.Val1275Ala SP substitution exon 1 VAR_052536 Q92609:p.Ile696Val SP substitution exon 1 VAR_052537 Q9P0N9:p.Leu67Trp SP substitution exon 1 VAR_052538 Q9P0N9:p.Ala136Thr SP substitution exon 1 VAR_052539 Q6ZT07:p.Glu7Lys SP substitution exon 1 VAR_052540 Q6ZT07:p.Glu779Lys SP substitution exon 1 VAR_052541 Q9BXI6:p.Arg411His SP substitution exon 1 VAR_052543 Q96BZ9:p.Asn79Ser SP substitution exon 1 VAR_052544 Q9Y2I9:p.Asn596Asp SP substitution exon 1 VAR_052545 Q8IYQ7:p.Leu154Pro SP substitution exon 1 VAR_052546 Q8IYQ7:p.Ala248Glu SP substitution exon 1 VAR_052547 Q63HR2:p.Ala670Thr SP substitution exon 1 VAR_052549 Q9H1H1:p.Leu56Val SP substitution exon 1 VAR_052550 P22735:p.Val518Met SP substitution exon 1 VAR_052551 P22735:p.Arg607Cys SP substitution exon 1 VAR_052552 P22735:p.Ser755Leu SP substitution exon 1 VAR_052553 P21980:p.Arg76His SP substitution exon 1 VAR_052554 P21980:p.Pro536Ser SP substitution exon 1 VAR_052555 P49221:p.Glu100Asp SP substitution exon 1 VAR_052556 P49221:p.Tyr244His SP substitution exon 1 VAR_052557 P49221:p.Ser249Thr SP substitution exon 1 VAR_052558 P49221:p.Glu313Lys SP substitution exon 1 VAR_052559 P49221:p.Arg372Cys SP substitution exon 1 VAR_052560 P49221:p.Arg372His SP substitution exon 1 VAR_052561 P49221:p.Ile376Val SP substitution exon 1 VAR_052562 P49221:p.Val409Ile SP substitution exon 1 VAR_052563 P49221:p.Glu437Gln SP substitution exon 1 VAR_052566 P08476:p.Gln299Pro SP substitution exon 1 VAR_052567 O75610:p.Val57Met SP substitution exon 1 VAR_052568 P12643:p.Pro77Ser SP substitution exon 1 VAR_052569 P12643:p.Leu161Ser SP substitution exon 1 VAR_052570 P12643:p.Asp387Gly SP substitution exon 1 VAR_052571 Q7Z5Y6:p.Arg293His SP substitution exon 1 VAR_052572 O95393:p.Thr200Ser SP substitution exon 1 VAR_052573 O95393:p.Asn250Lys SP substitution exon 1 VAR_052574 Q9NR23:p.Gly213Arg SP substitution exon 1 VAR_052575 O14793:p.Ile348Thr SP substitution exon 1 VAR_052576 O14793:p.Arg371Gly SP substitution exon 1 VAR_052577 P42765:p.Met217Val SP substitution exon 1 VAR_052578 Q9H1E5:p.Tyr215Cys SP substitution exon 1 VAR_052579 Q9H1E5:p.Gly303Arg SP substitution exon 1 VAR_052580 P13667:p.Thr173Met SP substitution exon 1 VAR_052581 Q14554:p.Thr391Met SP substitution exon 1 VAR_052582 Q96DN0:p.Phe52Leu SP substitution exon 1 VAR_052583 P48023:p.Tyr189Ser SP substitution exon 1 VAR_052584 P50591:p.Val33Ile SP substitution exon 1 VAR_052585 P50591:p.Asp47Glu SP substitution exon 1 VAR_052586 O75888:p.Gly67Arg SP substitution exon 1 VAR_052587 O75888:p.Asn96Ser SP substitution exon 1 VAR_052588 Q13472:p.Asp459Asn SP substitution exon 1 VAR_052591 O95985:p.Asp365Asn SP substitution exon 1 VAR_052592 P11387:p.Gly214Ser SP substitution exon 1 VAR_052593 Q969P6:p.Val256Ile SP substitution exon 1 VAR_052594 P11388:p.Gly1386Asp SP substitution exon 1 VAR_052595 P11388:p.Ala1515Ser SP substitution exon 1 VAR_052596 Q9Y5K1:p.Met91Val SP substitution exon 1 VAR_052597 Q9Y5K1:p.Ala202Val SP substitution exon 1 VAR_052598 Q7RTV5:p.Arg83Lys SP substitution exon 1 VAR_052599 Q7Z3D6:p.Ser237Asn SP substitution exon 1 VAR_052600 Q7Z3D6:p.Ala372Thr SP substitution exon 1 VAR_052601 Q7Z3D6:p.Asp507Asn SP substitution exon 1 VAR_052602 Q7Z3D6:p.Gly583Asp SP substitution exon 1 VAR_052603 Q16853:p.Arg78Gln SP substitution exon 1 VAR_052604 Q16853:p.Val171Met SP substitution exon 1 VAR_052605 Q16853:p.His203Arg SP substitution exon 1 VAR_052607 Q9Y6J0:p.Ala56Thr SP substitution exon 1 VAR_052608 Q9Y6J0:p.Asp225Asn SP substitution exon 1 VAR_052609 Q9Y6J0:p.Ser517Arg SP substitution exon 1 VAR_052610 Q9Y6J0:p.Arg660Ser SP substitution exon 1 VAR_052611 Q9Y6J0:p.Arg853Gln SP substitution exon 1 VAR_052612 Q9Y6J0:p.Gln921Glu SP substitution exon 1 VAR_052613 P30260:p.Ser320Pro SP substitution exon 1 VAR_052614 P09914:p.Pro131His SP substitution exon 1 VAR_052615 P09913:p.Glu79Ala SP substitution exon 1 VAR_052616 P09913:p.Lys121Arg SP substitution exon 1 VAR_052617 Q5T764:p.Leu188Pro SP substitution exon 1 VAR_052618 Q6N069:p.Glu344Gly SP substitution exon 1 VAR_052619 P49321:p.Val620Gly SP substitution exon 1 VAR_052620 P19878:p.His389Gln SP substitution exon 1 VAR_052621 P19878:p.Asn419Ile SP substitution exon 1 VAR_052622 Q8TF17:p.Gly171Glu SP substitution exon 1 VAR_052623 Q8TF17:p.His696Arg SP substitution exon 1 VAR_052624 Q9ULT0:p.Val545Ile SP substitution exon 1 VAR_052625 Q8N6N2:p.Leu223Pro SP substitution exon 1 VAR_052627 Q96AE7:p.Asn270His SP substitution exon 1 VAR_052628 Q6P3X3:p.Arg586His SP substitution exon 1 VAR_052629 Q9H3U1:p.Thr796Met SP substitution exon 1 VAR_052630 Q8IWX7:p.Ala199Val SP substitution exon 1 VAR_052631 Q8IWX7:p.Lys377Arg SP substitution exon 1 VAR_052632 Q8IWR0:p.Asn3Ser SP substitution exon 1 VAR_052633 Q8IWR0:p.His57Arg SP substitution exon 1 VAR_052634 P29401:p.Ile181Val SP substitution exon 1 VAR_052635 P54136:p.Arg135Gly SP substitution exon 1 VAR_052636 Q96I59:p.Asn87Thr SP substitution exon 1 VAR_052637 Q9P2J5:p.Arg1088Lys SP substitution exon 1 VAR_052638 Q15031:p.Lys727Asn SP substitution exon 1 VAR_052639 Q15031:p.Glu831Asp SP substitution exon 1 VAR_052640 Q15046:p.Gly179Ala SP substitution exon 1 VAR_052641 Q9Y285:p.Gln341Arg SP substitution exon 1 VAR_052642 O95363:p.Ser57Cys SP substitution exon 1 VAR_052643 O95363:p.Asn280Ser SP substitution exon 1 VAR_052644 Q7L3T8:p.Arg28Ser SP substitution exon 1 VAR_052645 Q9NP81:p.Thr35Ala SP substitution exon 1 VAR_052646 Q9NP81:p.Ser83Leu SP substitution exon 1 VAR_052652 Q03164:p.Gln1975Pro SP substitution exon 1 VAR_052653 Q9UMN6:p.Pro1829Leu SP substitution exon 1 VAR_052654 Q9UMN6:p.Asp2364Gly SP substitution exon 1 VAR_052655 Q9UMN6:p.Lys2408Asn SP substitution exon 1 VAR_052656 Q8IZD2:p.Ser1424Pro SP substitution exon 1 VAR_052657 P07996:p.Ser24Ala SP substitution exon 1 VAR_052658 P49746:p.Ser279Gly SP substitution exon 1 VAR_052659 P35443:p.Val737Ile SP substitution exon 1 VAR_052660 A2VEC9:p.Gln146Arg SP substitution exon 1 VAR_052661 A2VEC9:p.Val298Met SP substitution exon 1 VAR_052662 A2VEC9:p.Leu1273Pro SP substitution exon 1 VAR_052664 B1AKI9:p.Pro193Arg SP substitution exon 1 VAR_052665 Q2I0M5:p.Arg106Gln SP substitution exon 1 VAR_052666 Q13748:p.Asp392Val SP substitution exon 1 VAR_052667 Q6PEY2:p.Ser101Asn SP substitution exon 1 VAR_052668 Q6PEY2:p.Ala126Val SP substitution exon 1 VAR_052669 Q6PEY2:p.Trp402Arg SP substitution exon 1 VAR_052670 Q9NY65:p.Ala128Val SP substitution exon 1 VAR_052671 Q9H4B7:p.Thr274Met SP substitution exon 1 VAR_052672 Q9H4B7:p.Arg307His SP substitution exon 1 VAR_052673 P04350:p.Ile155Met SP substitution exon 1 VAR_052674 P23258:p.Met413Val SP substitution exon 1 VAR_052675 P57075:p.Asp466Glu SP substitution exon 1 VAR_052676 Q8TF42:p.Ala68Thr SP substitution exon 1 VAR_052677 Q5T6F2:p.Arg14Gln SP substitution exon 1 VAR_052678 Q5T6F2:p.Pro429Leu SP substitution exon 1 VAR_052679 Q5T6F2:p.Met762Ile SP substitution exon 1 VAR_052680 Q9UHD9:p.Leu235His SP substitution exon 1 VAR_052681 Q9H347:p.Cys255Arg SP substitution exon 1 VAR_052682 Q9H347:p.Asn285Asp SP substitution exon 1 VAR_052683 Q9H347:p.Thr287Ala SP substitution exon 1 VAR_052684 Q9H347:p.Thr290Ser SP substitution exon 1 VAR_052685 Q9NRR5:p.Ile495Met SP substitution exon 1 VAR_052687 O00124:p.Val18Met SP substitution exon 1 VAR_052688 O00124:p.Ile51Thr SP substitution exon 1 VAR_052691 Q9Y2Z9:p.Asp300Tyr SP substitution exon 1 VAR_052692 P55854:p.Pro38Ser SP substitution exon 1 VAR_052694 Q8WUN7:p.Met129Ile SP substitution exon 1 VAR_052695 Q71RG4:p.Arg228His SP substitution exon 1 VAR_052696 Q9H7C9:p.Val92Met SP substitution exon 1 VAR_052697 P13051:p.Gln4Arg SP substitution exon 1 VAR_052698 Q03405:p.Asp297Ala SP substitution exon 1 VAR_052699 Q8WXA2:p.Val46Ile SP substitution exon 1 VAR_052700 Q8WXA2:p.Gln47Arg SP substitution exon 1 VAR_052701 Q6UXB3:p.Arg5Gln SP substitution exon 1 VAR_052702 Q6UXB3:p.Ala7Val SP substitution exon 1 VAR_052703 Q6UWN0:p.Thr184Ser SP substitution exon 1 VAR_052704 Q6UWN5:p.Pro47Ala SP substitution exon 1 VAR_052705 Q5VV42:p.Lys484Arg SP substitution exon 1 VAR_052706 Q14667:p.Arg2060Gly SP substitution exon 1 VAR_052707 Q6ZN30:p.Leu550Val SP substitution exon 1 VAR_052708 Q63HK5:p.Pro687Leu SP substitution exon 1 VAR_052709 P41182:p.Asn252Ser SP substitution exon 1 VAR_052710 Q86YF9:p.Thr172Met SP substitution exon 1 VAR_052711 Q86YF9:p.Met664Leu SP substitution exon 1 VAR_052712 P18146:p.Thr28Ile SP substitution exon 1 VAR_052713 Q6BEB4:p.Ala75Thr SP substitution exon 1 VAR_052714 Q3SY56:p.Val156Ile SP substitution exon 1 VAR_052715 P57682:p.Arg207Ser SP substitution exon 1 VAR_052716 Q13118:p.Ser249Phe SP substitution exon 1 VAR_052717 O14901:p.Ser378Phe SP substitution exon 1 VAR_052718 Q8TD94:p.Ala173Pro SP substitution exon 1 VAR_052719 Q5JT82:p.Ile35Asn SP substitution exon 1 VAR_052720 Q5JT82:p.Ser57Thr SP substitution exon 1 VAR_052721 Q5JT82:p.Gln80His SP substitution exon 1 VAR_052722 Q99684:p.Ser36Asn SP substitution exon 1 VAR_052724 Q9HBE1:p.Glu685Asp SP substitution exon 1 VAR_052725 Q9GZU2:p.Glu624Gly SP substitution exon 1 VAR_052726 Q9GZU2:p.Asn947Ser SP substitution exon 1 VAR_052727 Q9GZU2:p.Ala1456Val SP substitution exon 1 VAR_052729 Q9UM63:p.Ala272Val SP substitution exon 1 VAR_052730 Q9BWE0:p.Gly49Arg SP substitution exon 1 VAR_052731 P37275:p.Gly90Arg SP substitution exon 1 VAR_052732 O60284:p.Arg515Cys SP substitution exon 1 VAR_052733 Q15911:p.Ala997Ser SP substitution exon 1 VAR_052734 P10075:p.Ala180Thr SP substitution exon 1 VAR_052735 Q9H116:p.Asn190Ser SP substitution exon 1 VAR_052736 Q9H116:p.Lys318Asn SP substitution exon 1 VAR_052737 Q9H116:p.Asp667Asn SP substitution exon 1 VAR_052738 Q8NHY6:p.Ser141Trp SP substitution exon 1 VAR_052739 Q13129:p.Arg668Lys SP substitution exon 1 VAR_052740 Q13129:p.Val932Ala SP substitution exon 1 VAR_052741 Q13129:p.Gly957Asp SP substitution exon 1 VAR_052742 Q13129:p.Glu1784Asp SP substitution exon 1 VAR_052743 P17036:p.Ile102Thr SP substitution exon 1 VAR_052744 P17097:p.Ser347Leu SP substitution exon 1 VAR_052746 P21506:p.Gln227Arg SP substitution exon 1 VAR_052747 P17026:p.Ser65Gly SP substitution exon 1 VAR_052749 Q06730:p.Gln549Glu SP substitution exon 1 VAR_052750 Q06730:p.Gly614Arg SP substitution exon 1 VAR_052751 Q06730:p.Asp804His SP substitution exon 1 VAR_052752 Q06732:p.His356Arg SP substitution exon 1 VAR_052753 P17032:p.Asp105Asn SP substitution exon 1 VAR_052754 P31629:p.Arg46Gln SP substitution exon 1 VAR_052755 P31629:p.Ala1041Val SP substitution exon 1 VAR_052756 P31629:p.Leu1293Ile SP substitution exon 1 VAR_052757 P31629:p.Leu1538Pro SP substitution exon 1 VAR_052758 Q96MX3:p.Ala65Val SP substitution exon 1 VAR_052759 Q96MX3:p.Ile224Val SP substitution exon 1 VAR_052760 Q68EA5:p.Thr223Asn SP substitution exon 1 VAR_052761 Q68EA5:p.Arg230Trp SP substitution exon 1 VAR_052762 Q9NQZ8:p.Arg27Gly SP substitution exon 1 VAR_052763 Q9NQZ8:p.Pro121Leu SP substitution exon 1 VAR_052764 Q15935:p.Cys3Ser SP substitution exon 1 VAR_052765 P51508:p.Ala213Glu SP substitution exon 1 VAR_052766 Q03936:p.Ala122Val SP substitution exon 1 VAR_052768 P35789:p.Asp93Tyr SP substitution exon 1 VAR_052769 Q8NC26:p.His99Asn SP substitution exon 1 VAR_052770 Q8NC26:p.Val207Ala SP substitution exon 1 VAR_052771 P52741:p.Ile30Thr SP substitution exon 1 VAR_052772 P52741:p.Ala46Thr SP substitution exon 1 VAR_052773 P52741:p.Ser207Arg SP substitution exon 1 VAR_052774 P52742:p.Gly22Asp SP substitution exon 1 VAR_052779 Q13106:p.Gly122Val SP substitution exon 1 VAR_052780 Q13106:p.Leu182Val SP substitution exon 1 VAR_052781 Q13106:p.Pro384Leu SP substitution exon 1 VAR_052782 Q9P0L1:p.Arg24Cys SP substitution exon 1 VAR_052783 Q9P0L1:p.Phe153Ser SP substitution exon 1 VAR_052784 Q9P0L1:p.Thr342Ile SP substitution exon 1 VAR_052785 Q9P0L1:p.Glu359Lys SP substitution exon 1 VAR_052786 Q9P0L1:p.Thr432Ala SP substitution exon 1 VAR_052787 Q9P0L1:p.Thr483Ile SP substitution exon 1 VAR_052788 Q9P0L1:p.Ser746Phe SP substitution exon 1 VAR_052789 Q9Y473:p.Cys505Arg SP substitution exon 1 VAR_052790 P98182:p.Thr140Met SP substitution exon 1 VAR_052794 Q9UDV6:p.His293Tyr SP substitution exon 1 VAR_052795 O75362:p.Val739Ile SP substitution exon 1 VAR_052796 Q9UK12:p.Lys50Glu SP substitution exon 1 VAR_052797 Q9UK12:p.Val58Phe SP substitution exon 1 VAR_052798 Q9UK12:p.Gly263Asp SP substitution exon 1 VAR_052799 Q14588:p.Val208Met SP substitution exon 1 VAR_052800 Q8NDW4:p.Lys218Glu SP substitution exon 1 VAR_052801 O14978:p.Cys310Ser SP substitution exon 1 VAR_052802 O14978:p.Val534Ile SP substitution exon 1 VAR_052803 O43296:p.Arg181Thr SP substitution exon 1 VAR_052804 O43296:p.Arg183His SP substitution exon 1 VAR_052805 Q9UDV7:p.Met273Val SP substitution exon 1 VAR_052807 Q9ULJ3:p.Asn185Ser SP substitution exon 1 VAR_052808 Q9ULJ3:p.Lys218Gln SP substitution exon 1 VAR_052809 Q96LW9:p.Ala128Pro SP substitution exon 1 VAR_052810 Q96LW9:p.Arg222Gln SP substitution exon 1 VAR_052811 Q6AW86:p.Ser63Gly SP substitution exon 1 VAR_052812 Q96JL9:p.Ala537Val SP substitution exon 1 VAR_052813 Q9HCZ1:p.Asn547Ser SP substitution exon 1 VAR_052814 Q9Y3M9:p.Arg467Gly SP substitution exon 1 VAR_052815 Q96SE7:p.Met117Val SP substitution exon 1 VAR_052816 Q53GI3:p.Thr325Met SP substitution exon 1 VAR_052817 Q8TD17:p.Glu87Asp SP substitution exon 1 VAR_052818 Q8TD17:p.Ser294Leu SP substitution exon 1 VAR_052819 Q9P243:p.Arg672Lys SP substitution exon 1 VAR_052820 Q9C0G0:p.Asn69Ser SP substitution exon 1 VAR_052821 Q9C0G0:p.Gly512Arg SP substitution exon 1 VAR_052823 Q9H9D4:p.Arg337Pro SP substitution exon 1 VAR_052824 Q9BUY5:p.Thr219Ala SP substitution exon 1 VAR_052825 Q8TF32:p.Asp3Gly SP substitution exon 1 VAR_052826 Q9NX65:p.Ala54Val SP substitution exon 1 VAR_052827 Q8NDP4:p.Pro6Ser SP substitution exon 1 VAR_052828 Q8IYI8:p.Pro88Arg SP substitution exon 1 VAR_052829 Q8IYI8:p.Ser569Asn SP substitution exon 1 VAR_052830 Q9H7R0:p.Ile93Val SP substitution exon 1 VAR_052831 Q9H7R0:p.Gly422Arg SP substitution exon 1 VAR_052832 P59923:p.Tyr428Cys SP substitution exon 1 VAR_052834 Q8TAF7:p.Asn87Ser SP substitution exon 1 VAR_052835 Q7Z7K2:p.Thr324Ala SP substitution exon 1 VAR_052836 Q9BX82:p.Met192Ile SP substitution exon 1 VAR_052837 Q9BX82:p.Gly406Asp SP substitution exon 1 VAR_052838 Q9BX82:p.Ser556Cys SP substitution exon 1 VAR_052839 Q8WTR7:p.Ser59Gly SP substitution exon 1 VAR_052840 Q8WTR7:p.Ser74Gly SP substitution exon 1 VAR_052841 Q8WTR7:p.Thr164Met SP substitution exon 1 VAR_052842 Q8WTR7:p.Glu309Gly SP substitution exon 1 VAR_052843 Q8WTR7:p.Thr654Ile SP substitution exon 1 VAR_052844 Q8WTR7:p.Ser662Ala SP substitution exon 1 VAR_052845 Q9P255:p.Thr106Lys SP substitution exon 1 VAR_052846 Q6ZR52:p.Cys195Phe SP substitution exon 1 VAR_052847 Q6ZR52:p.Leu292Val SP substitution exon 1 VAR_052848 Q9Y2H8:p.Asn273Lys SP substitution exon 1 VAR_052849 Q9Y2H8:p.His398Asp SP substitution exon 1 VAR_052850 Q9Y2H8:p.Met401Ile SP substitution exon 1 VAR_052851 Q9Y2H8:p.Gly634Glu SP substitution exon 1 VAR_052852 Q92618:p.Asn4Ser SP substitution exon 1 VAR_052853 Q92618:p.Gly239Ser SP substitution exon 1 VAR_052854 Q8TB69:p.Trp18Arg SP substitution exon 1 VAR_052855 Q8TB69:p.Gly89Ser SP substitution exon 1 VAR_052856 Q8TB69:p.Lys206Glu SP substitution exon 1 VAR_052857 Q8TB69:p.Arg229Ile SP substitution exon 1 VAR_052859 Q6NX49:p.His203Asp SP substitution exon 1 VAR_052861 Q86TJ5:p.Glu190Gly SP substitution exon 1 VAR_052862 Q86TJ5:p.Val211Ile SP substitution exon 1 VAR_052863 Q9HAH1:p.Arg146Leu SP substitution exon 1 VAR_052864 Q9HAH1:p.Ala353Thr SP substitution exon 1 VAR_052865 Q9HAH1:p.Glu428Lys SP substitution exon 1 VAR_052866 Q96MR9:p.Tyr630Cys SP substitution exon 1 VAR_052867 Q3ZCX4:p.Met437Thr SP substitution exon 1 VAR_052869 Q7Z3V5:p.Lys170Met SP substitution exon 1 VAR_052870 Q6ZN55:p.Thr711Ser SP substitution exon 1 VAR_052871 Q86UQ0:p.Thr12Ala SP substitution exon 1 VAR_052872 Q8WXB4:p.Ser141Gly SP substitution exon 1 VAR_052873 Q8N9Z0:p.Val104Met SP substitution exon 1 VAR_052874 Q8N9Z0:p.Ala131Ser SP substitution exon 1 VAR_052875 Q8N9Z0:p.Arg298Ile SP substitution exon 1 VAR_052876 Q8N823:p.Pro252Leu SP substitution exon 1 VAR_052877 Q8N823:p.Glu340Gly SP substitution exon 1 VAR_052878 Q8N883:p.Thr68Ile SP substitution exon 1 VAR_052879 Q8N883:p.His223Arg SP substitution exon 1 VAR_052880 Q8N883:p.Val415Ile SP substitution exon 1 VAR_052881 O75123:p.Asn126Asp SP substitution exon 1 VAR_052882 Q96I27:p.Val41Met SP substitution exon 1 VAR_052883 Q9UEG4:p.Pro707Ala SP substitution exon 1 VAR_052884 Q9UJL9:p.Gly359Arg SP substitution exon 1 VAR_052885 Q9H582:p.Met556Val SP substitution exon 1 VAR_052886 Q9H582:p.Ala794Val SP substitution exon 1 VAR_052887 Q5T619:p.Glu42Lys SP substitution exon 1 VAR_052888 Q5TYW1:p.Ser68Tyr SP substitution exon 1 VAR_052889 Q86XU0:p.Asp56Asn SP substitution exon 1 VAR_052890 Q86XU0:p.Gly254Glu SP substitution exon 1 VAR_052891 O95780:p.Val65Met SP substitution exon 1 VAR_052892 O95780:p.Thr209Ile SP substitution exon 1 VAR_052894 Q8N1G0:p.Gly259Glu SP substitution exon 1 VAR_052895 Q8N1G0:p.Arg344Thr SP substitution exon 1 VAR_052896 P0C7X2:p.Ser131Ile SP substitution exon 1 VAR_052897 Q9H0M5:p.Glu269Gly SP substitution exon 1 VAR_052898 Q9NV72:p.Thr271Lys SP substitution exon 1 VAR_052899 Q5HY98:p.Cys95Tyr SP substitution exon 1 VAR_052900 Q9H5H4:p.Ala488Ser SP substitution exon 1 VAR_052901 Q6ZMW2:p.Asn246Ser SP substitution exon 1 VAR_052902 Q6ZMW2:p.Thr289Ala SP substitution exon 1 VAR_052903 Q5FWF6:p.Thr77Ala SP substitution exon 1 VAR_052904 Q2TB10:p.Leu102Val SP substitution exon 1 VAR_052905 Q6ZN06:p.Ala62Thr SP substitution exon 1 VAR_052906 Q6ZN06:p.Asp93Val SP substitution exon 1 VAR_052907 Q6ZN06:p.Ile168Phe SP substitution exon 1 VAR_052908 Q6ZN06:p.Tyr192Cys SP substitution exon 1 VAR_052909 P16415:p.Arg566His SP substitution exon 1 VAR_052910 Q96JM3:p.Lys591Arg SP substitution exon 1 VAR_052913 Q9P1Z0:p.Ala539Val SP substitution exon 1 VAR_052914 Q9P1Z0:p.Asn561Ser SP substitution exon 1 VAR_052915 O15062:p.Asp300Gly SP substitution exon 1 VAR_052916 Q9HCK0:p.His236Arg SP substitution exon 1 VAR_052917 Q8NAP3:p.Ser319Ala SP substitution exon 1 VAR_052918 Q8NAP3:p.Thr615Met SP substitution exon 1 VAR_052919 Q8NAP3:p.Ala809Thr SP substitution exon 1 VAR_052920 Q9NUA8:p.Ala225Thr SP substitution exon 1 VAR_052921 Q9NUA8:p.Met267Ile SP substitution exon 1 VAR_052922 Q9NUA8:p.Tyr595Cys SP substitution exon 1 VAR_052923 Q9NUA8:p.Val997Met SP substitution exon 1 VAR_052924 Q96K62:p.Asp293Glu SP substitution exon 1 VAR_052925 P10074:p.Ser675Ala SP substitution exon 1 VAR_052926 Q8NAM6:p.Glu387Lys SP substitution exon 1 VAR_052929 Q13029:p.Asp283Glu SP substitution exon 1 VAR_052930 Q13029:p.Ser450Asn SP substitution exon 1 VAR_052931 Q9NZV7:p.Gln408Arg SP substitution exon 1 VAR_052932 Q9NZV7:p.Arg473Lys SP substitution exon 1 VAR_052933 Q96PE6:p.Gly205Arg SP substitution exon 1 VAR_052934 Q9BSH4:p.Gly145Ser SP substitution exon 1 VAR_052935 P42704:p.Thr478Ala SP substitution exon 1 VAR_052936 O75127:p.Pro356Leu SP substitution exon 1 VAR_052937 O75127:p.Val620Gly SP substitution exon 1 VAR_052938 O15195:p.Phe610Leu SP substitution exon 1 VAR_052939 O15195:p.Leu740Phe SP substitution exon 1 VAR_052940 Q9UJA9:p.Ile69Val SP substitution exon 1 VAR_052941 Q9UJA9:p.Tyr283Cys SP substitution exon 1 VAR_052942 Q6UWR7:p.Asp357Asn SP substitution exon 1 VAR_052943 Q8IV20:p.Ile254Val SP substitution exon 1 VAR_052944 Q9P1Q0:p.Ser561Cys SP substitution exon 1 VAR_052945 Q8WYP3:p.Ala643Thr SP substitution exon 1 VAR_052946 Q8TB24:p.Thr425Ile SP substitution exon 1 VAR_052947 P19957:p.Thr17Met SP substitution exon 1 VAR_052948 Q9HC57:p.Leu196Val SP substitution exon 1 VAR_052949 Q9HC57:p.Lys217Arg SP substitution exon 1 VAR_052950 O95925:p.Lys128Thr SP substitution exon 1 VAR_052951 Q8IUB2:p.His36Asp SP substitution exon 1 VAR_052952 Q8IUB3:p.Leu8Pro SP substitution exon 1 VAR_052953 Q9UPY6:p.Ser415Leu SP substitution exon 1 VAR_052954 P09544:p.Cys294Phe SP substitution exon 1 VAR_052955 P56705:p.Pro277Leu SP substitution exon 1 VAR_052956 O14904:p.Ala260Thr SP substitution exon 1 VAR_052957 Q9UBV4:p.Gly82Arg SP substitution exon 1 VAR_052958 Q9UBV4:p.Thr263Ile SP substitution exon 1 VAR_052959 Q9HCE7:p.Ser466Tyr SP substitution exon 1 VAR_052961 P55157:p.Glu98Asp SP substitution exon 1 VAR_052962 P55157:p.Asn166Ser SP substitution exon 1 VAR_052964 Q9UPT8:p.Glu287Lys SP substitution exon 1 VAR_052965 Q9UPT8:p.Met464Val SP substitution exon 1 VAR_052966 Q9UPT8:p.Ala1228Gly SP substitution exon 1 VAR_052967 O75152:p.Thr640Asn SP substitution exon 1 VAR_052968 Q5D1E8:p.Val240Met SP substitution exon 1 VAR_052969 Q8WU90:p.Thr408Pro SP substitution exon 1 VAR_052970 Q9UBU7:p.Tyr112Asn SP substitution exon 1 VAR_052972 Q8WTX9:p.Arg124Gln SP substitution exon 1 VAR_052973 Q9NYG2:p.His220Gln SP substitution exon 1 VAR_052974 Q9H6R6:p.Asp41Asn SP substitution exon 1 VAR_052975 Q9H8X9:p.Leu325Ser SP substitution exon 1 VAR_052978 Q8IUH5:p.Asn383Ser SP substitution exon 1 VAR_052979 Q8WVZ1:p.Gly66Ala SP substitution exon 1 VAR_052980 Q15075:p.Lys810Gln SP substitution exon 1 VAR_052981 O14964:p.Glu400Asp SP substitution exon 1 VAR_052982 Q9H1K0:p.Leu591Pro SP substitution exon 1 VAR_052983 Q9H1K0:p.Thr641Ala SP substitution exon 1 VAR_052984 Q9H1K0:p.Met722Ile SP substitution exon 1 VAR_052985 O95405:p.Tyr287Cys SP substitution exon 1 VAR_052986 O95405:p.Gln414Pro SP substitution exon 1 VAR_052987 O95405:p.Ile639Val SP substitution exon 1 VAR_052988 Q9HCC9:p.Ser603Asn SP substitution exon 1 VAR_052989 Q9HCC9:p.Ser672Pro SP substitution exon 1 VAR_052990 Q8NB12:p.Gln164Pro SP substitution exon 1 VAR_052992 Q9H091:p.Arg401His SP substitution exon 1 VAR_052994 Q9UGM3:p.Arg670Cys SP substitution exon 1 VAR_052995 Q9UGM3:p.Thr719Met SP substitution exon 1 VAR_052996 P60852:p.Thr158Ile SP substitution exon 1 VAR_052997 Q12836:p.Ala114Val SP substitution exon 1 VAR_052998 Q12836:p.Pro295Ser SP substitution exon 1 VAR_052999 O75312:p.Ala264Val SP substitution exon 1 VAR_053000 Q8IZH2:p.Ser674Gly SP substitution exon 1 VAR_053001 Q8IZH2:p.Val1259Ala SP substitution exon 1 VAR_053003 Q9UHB7:p.Thr136Pro SP substitution exon 1 VAR_053004 P49418:p.Lys218Glu SP substitution exon 1 VAR_053005 P49418:p.Met376Ile SP substitution exon 1 VAR_053006 P49418:p.Lys496Thr SP substitution exon 1 VAR_053007 O95236:p.Ser39Arg SP substitution exon 1 VAR_053008 Q9BPW4:p.Ile9Val SP substitution exon 1 VAR_053009 Q9BPW4:p.Val12Leu SP substitution exon 1 VAR_053010 Q9BPW4:p.Met159Val SP substitution exon 1 VAR_053012 Q9BWW9:p.Glu81Lys SP substitution exon 1 VAR_053013 Q9BWW8:p.Asn173Lys SP substitution exon 1 VAR_053014 O95352:p.Val471Ala SP substitution exon 1 VAR_053015 Q9H6X2:p.Arg7Lys SP substitution exon 1 VAR_053016 Q9H175:p.Thr436Met SP substitution exon 1 VAR_053017 Q8WUM4:p.Ala309Thr SP substitution exon 1 VAR_053018 Q8WUM4:p.Val378Ile SP substitution exon 1 VAR_053019 Q8WUM4:p.Asn550Ser SP substitution exon 1 VAR_053020 Q8WUM4:p.Lys638Glu SP substitution exon 1 VAR_053021 P31415:p.Tyr140Phe SP substitution exon 1 VAR_053022 Q16568:p.Leu113Met SP substitution exon 1 VAR_053023 Q8N131:p.Val71Met SP substitution exon 1 VAR_053024 Q8N131:p.Val86Phe SP substitution exon 1 VAR_053025 Q8N131:p.Ala158Thr SP substitution exon 1 VAR_053026 O75419:p.Met356Arg SP substitution exon 1 VAR_053027 P42771:p.Arg58Gln SP substitution exon 1 VAR_053028 P42771:p.Ala60Val SP substitution exon 1 VAR_053029 P42771:p.His83Gln SP substitution exon 1 VAR_053030 P42771:p.Arg99Trp SP substitution exon 1 VAR_053031 P42771:p.Ala102Thr SP substitution exon 1 VAR_053032 P42771:p.Arg124Cys SP substitution exon 1 VAR_053033 Q8N726:p.Gly106Arg SP substitution exon 1 VAR_053034 Q8N726:p.Pro113Leu SP substitution exon 1 VAR_053035 Q8N726:p.Gly116Asp SP substitution exon 1 VAR_053036 Q4W5G0:p.His475Arg SP substitution exon 1 VAR_053037 Q9UJ90:p.Pro33Ser SP substitution exon 1 VAR_053038 Q99966:p.His96Gln SP substitution exon 1 VAR_053039 Q8IZ96:p.Ser10Thr SP substitution exon 1 VAR_053040 P04118:p.Leu8Pro SP substitution exon 1 VAR_053041 Q9BPX3:p.Ala64Pro SP substitution exon 1 VAR_053043 P42695:p.Arg622Gln SP substitution exon 1 VAR_053044 P42695:p.Pro907Thr SP substitution exon 1 VAR_053045 P42695:p.Ser1034Arg SP substitution exon 1 VAR_053046 Q86XI2:p.Thr794Met SP substitution exon 1 VAR_053047 Q86XI2:p.Glu867Asp SP substitution exon 1 VAR_053048 Q9UBC9:p.Thr156Met SP substitution exon 1 VAR_053049 P22532:p.Thr20Ala SP substitution exon 1 VAR_053051 Q5C9Z4:p.Met723Val SP substitution exon 1 VAR_053052 O95067:p.Val135Ile SP substitution exon 1 VAR_053053 Q8IV13:p.His234Tyr SP substitution exon 1 VAR_053054 O60563:p.His362Arg SP substitution exon 1 VAR_053055 Q5M775:p.Ser274Arg SP substitution exon 1 VAR_053056 Q5M775:p.Asp769Asn SP substitution exon 1 VAR_053057 Q9NYF0:p.Asp446Asn SP substitution exon 1 VAR_053058 Q9NYF0:p.Ala464Val SP substitution exon 1 VAR_053061 Q9UK85:p.Leu24Arg SP substitution exon 1 VAR_053062 Q9UK85:p.Leu104Ile SP substitution exon 1 VAR_053063 Q9UK85:p.Gly187Ser SP substitution exon 1 VAR_053064 Q92608:p.Asp1558Ala SP substitution exon 1 VAR_053065 Q9H7D0:p.Gln1023Arg SP substitution exon 1 VAR_053069 Q96EV8:p.Gly214Asp SP substitution exon 1 VAR_053070 Q9H223:p.Val154Ile SP substitution exon 1 VAR_053071 Q9BSD7:p.Gly106Glu SP substitution exon 1 VAR_053072 P55199:p.Ser297Asn SP substitution exon 1 VAR_053073 P55199:p.Arg387Trp SP substitution exon 1 VAR_053074 Q9HB65:p.Trp140Arg SP substitution exon 1 VAR_053075 Q9NT22:p.Ser532Asn SP substitution exon 1 VAR_053078 Q9NR46:p.Ala305Val SP substitution exon 1 VAR_053079 Q9NR46:p.Pro319Leu SP substitution exon 1 VAR_053082 Q9H501:p.Pro386Leu SP substitution exon 1 VAR_053084 Q9HA72:p.Val136Gly SP substitution exon 1 VAR_053085 Q5R3K3:p.Gly80Arg SP substitution exon 1 VAR_053086 Q5R3K3:p.Glu293Lys SP substitution exon 1 VAR_053087 Q96BQ1:p.Pro60Ser SP substitution exon 1 VAR_053088 Q96BQ1:p.Ala118Ser SP substitution exon 1 VAR_053089 Q9NYF3:p.Arg21Cys SP substitution exon 1 VAR_053090 Q9H993:p.Lys73Asn SP substitution exon 1 VAR_053091 Q9H993:p.Gly150Glu SP substitution exon 1 VAR_053092 Q9H993:p.Ser154Ala SP substitution exon 1 VAR_053093 Q9H993:p.His161Pro SP substitution exon 1 VAR_053094 Q9H993:p.Ile264Val SP substitution exon 1 VAR_053095 Q9H993:p.Ala317Thr SP substitution exon 1 VAR_053096 Q13480:p.Thr377Ile SP substitution exon 1 VAR_053097 Q9UQC2:p.Pro320Leu SP substitution exon 1 VAR_053098 Q2WGN9:p.Leu273Pro SP substitution exon 1 VAR_053099 Q7Z2X7:p.Leu5Val SP substitution exon 1 VAR_053100 Q8NHY3:p.Ala540Thr SP substitution exon 1 VAR_053101 Q8NHY3:p.Ala654Val SP substitution exon 1 VAR_053102 O60443:p.Met174Thr SP substitution exon 1 VAR_053103 Q0ZLH3:p.Arg265Cys SP substitution exon 1 VAR_053104 Q96PP8:p.Glu4Gln SP substitution exon 1 VAR_053105 Q6UXV0:p.Arg33Cys SP substitution exon 1 VAR_053106 Q6UXV0:p.Ser387Pro SP substitution exon 1 VAR_053107 O75496:p.Ser60Pro SP substitution exon 1 VAR_053108 O75496:p.Thr203Met SP substitution exon 1 VAR_053109 O43555:p.Ala16Val SP substitution exon 1 VAR_053110 O15488:p.His7Tyr SP substitution exon 1 VAR_053111 P15421:p.Arg78Pro SP substitution exon 1 VAR_053112 Q13322:p.Pro36Leu SP substitution exon 1 VAR_053114 Q8NGR6:p.Leu149Ser SP substitution exon 1 VAR_053115 Q8NGR6:p.Ala230Thr SP substitution exon 1 VAR_053116 Q8NGR6:p.Cys263Trp SP substitution exon 1 VAR_053117 Q8NGR6:p.Val314Gly SP substitution exon 1 VAR_053118 Q15619:p.Thr209Met SP substitution exon 1 VAR_053119 P30953:p.Pro129Leu SP substitution exon 1 VAR_053120 P30953:p.Ser262Pro SP substitution exon 1 VAR_053121 O43749:p.Val126Met SP substitution exon 1 VAR_053122 P47890:p.Gln88His SP substitution exon 1 VAR_053123 Q8NGS2:p.Arg165Gln SP substitution exon 1 VAR_053124 Q8NGR5:p.Gly234Arg SP substitution exon 1 VAR_053125 Q8NGR5:p.Tyr310His SP substitution exon 1 VAR_053126 Q15612:p.Gln24Arg SP substitution exon 1 VAR_053127 Q15612:p.Thr240Ala SP substitution exon 1 VAR_053128 Q6IF42:p.Leu210Pro SP substitution exon 1 VAR_053129 Q96R48:p.Ile126Val SP substitution exon 1 VAR_053130 Q96R48:p.Ala202Ser SP substitution exon 1 VAR_053131 P58173:p.Val117Ile SP substitution exon 1 VAR_053132 Q5JQS5:p.Val198Met SP substitution exon 1 VAR_053133 Q5JQS5:p.Gly223Asp SP substitution exon 1 VAR_053134 Q5JQS5:p.Thr293Ile SP substitution exon 1 VAR_053135 Q5JQS5:p.Asp300Gly SP substitution exon 1 VAR_053136 Q13607:p.Arg122Cys SP substitution exon 1 VAR_053137 Q13607:p.His137Arg SP substitution exon 1 VAR_053138 Q8NHA4:p.Ile77Thr SP substitution exon 1 VAR_053139 Q8NHA4:p.Leu267Val SP substitution exon 1 VAR_053140 Q9H205:p.Val187Leu SP substitution exon 1 VAR_053141 Q8NGZ4:p.Leu164Ser SP substitution exon 1 VAR_053142 Q5TZ20:p.Met258Leu SP substitution exon 1 VAR_053144 Q8NH16:p.Phe249Leu SP substitution exon 1 VAR_053145 Q8NH16:p.Val259Leu SP substitution exon 1 VAR_053146 Q8NG85:p.Ser104Leu SP substitution exon 1 VAR_053147 Q8NGY9:p.Tyr217Cys SP substitution exon 1 VAR_053148 Q8N349:p.Leu156Phe SP substitution exon 1 VAR_053149 Q8NG81:p.Val78Ala SP substitution exon 1 VAR_053150 Q8NG81:p.Cys178Phe SP substitution exon 1 VAR_053151 Q8NH03:p.Met204Thr SP substitution exon 1 VAR_053152 Q8NHC8:p.Thr57Asn SP substitution exon 1 VAR_053153 Q8NHC8:p.Leu159Pro SP substitution exon 1 VAR_053154 Q8NHC8:p.Ser243Ala SP substitution exon 1 VAR_053155 Q8NH01:p.Cys119Arg SP substitution exon 1 VAR_053156 Q8NH01:p.Gln309Arg SP substitution exon 1 VAR_053157 Q8NG77:p.Lys296Asn SP substitution exon 1 VAR_053158 Q8NH04:p.Leu36Val SP substitution exon 1 VAR_053159 Q8NG76:p.Ala169Val SP substitution exon 1 VAR_053160 Q96R30:p.Ala34Val SP substitution exon 1 VAR_053161 Q96R30:p.His221Arg SP substitution exon 1 VAR_053162 Q8NGV0:p.Arg128Cys SP substitution exon 1 VAR_053163 Q8NGV0:p.Val154Met SP substitution exon 1 VAR_053164 Q8NH70:p.His232Arg SP substitution exon 1 VAR_053165 Q8NGL9:p.Val25Leu SP substitution exon 1 VAR_053166 Q8NGL9:p.Thr49Ala SP substitution exon 1 VAR_053167 Q8NGL9:p.Ala203Thr SP substitution exon 1 VAR_053168 Q8NGL9:p.Leu259Pro SP substitution exon 1 VAR_053169 Q8NGJ1:p.Met59Val SP substitution exon 1 VAR_053170 Q8NGE8:p.Gln159Arg SP substitution exon 1 VAR_053171 Q8NGD2:p.Asn307Ile SP substitution exon 1 VAR_053172 Q8NH42:p.Gln292Lys SP substitution exon 1 VAR_053173 Q8NGD5:p.Met119Val SP substitution exon 1 VAR_053174 Q8NGD5:p.Leu145Arg SP substitution exon 1 VAR_053175 Q8IXE1:p.Arg290His SP substitution exon 1 VAR_053176 Q8NH05:p.Thr135Ala SP substitution exon 1 VAR_053177 Q8NH05:p.Phe238Leu SP substitution exon 1 VAR_053178 Q8NH49:p.Arg144Gly SP substitution exon 1 VAR_053179 Q8NH49:p.Leu196Gln SP substitution exon 1 VAR_053180 Q8NGF4:p.Ala105Thr SP substitution exon 1 VAR_053181 Q96R09:p.Met200Thr SP substitution exon 1 VAR_053182 Q96R09:p.Val208Ala SP substitution exon 1 VAR_053183 Q8NH48:p.Pro30Leu SP substitution exon 1 VAR_053184 Q8NH48:p.Ile35Phe SP substitution exon 1 VAR_053185 Q8NH48:p.Trp49Arg SP substitution exon 1 VAR_053186 Q8NH48:p.Asn170Ser SP substitution exon 1 VAR_053187 Q8NH48:p.Ala181Thr SP substitution exon 1 VAR_053188 Q8NH48:p.Ile198Val SP substitution exon 1 VAR_053189 Q8NH48:p.Gly247Ala SP substitution exon 1 VAR_053190 Q8NH48:p.Lys296Arg SP substitution exon 1 VAR_053191 Q96R08:p.Cys141Arg SP substitution exon 1 VAR_053192 Q96R08:p.Cys141Tyr SP substitution exon 1 VAR_053193 Q8NGF7:p.Tyr308Cys SP substitution exon 1 VAR_053194 O95221:p.Tyr278His SP substitution exon 1 VAR_053195 Q8NGV7:p.Ile230Val SP substitution exon 1 VAR_053196 Q8NGV7:p.Arg266Cys SP substitution exon 1 VAR_053197 Q8NGV7:p.Ile286Val SP substitution exon 1 VAR_053198 Q13606:p.Arg6Gly SP substitution exon 1 VAR_053199 Q13606:p.Leu50Ser SP substitution exon 1 VAR_053200 Q13606:p.Val306Ile SP substitution exon 1 VAR_053201 Q6IEU7:p.Val69Leu SP substitution exon 1 VAR_053202 Q6IEU7:p.Ile313Thr SP substitution exon 1 VAR_053203 Q8WZ92:p.Gly7Arg SP substitution exon 1 VAR_053204 Q8WZ92:p.Asn318Asp SP substitution exon 1 VAR_053205 Q8NH85:p.Cys103Tyr SP substitution exon 1 VAR_053206 Q8NH85:p.Asp121Gly SP substitution exon 1 VAR_053207 Q8NH85:p.Ser128Gly SP substitution exon 1 VAR_053208 Q8NH85:p.Tyr132His SP substitution exon 1 VAR_053209 Q8NH85:p.Ile162Thr SP substitution exon 1 VAR_053210 Q8NG75:p.Pro60Leu SP substitution exon 1 VAR_053213 Q8NH69:p.Phe39Leu SP substitution exon 1 VAR_053214 Q8NH69:p.His65Arg SP substitution exon 1 VAR_053215 Q8NH69:p.Met160Thr SP substitution exon 1 VAR_053216 Q8NH69:p.Phe215Leu SP substitution exon 1 VAR_053217 O95222:p.Ala22Val SP substitution exon 1 VAR_053218 Q9NZP0:p.Ser69Leu SP substitution exon 1 VAR_053219 Q9NZP0:p.Met133Thr SP substitution exon 1 VAR_053220 Q8NGE1:p.Met83Thr SP substitution exon 1 VAR_053221 Q8NGZ6:p.Pro159Ala SP substitution exon 1 VAR_053222 Q8NGM8:p.Thr276Lys SP substitution exon 1 VAR_053223 Q8NGY5:p.Phe245Leu SP substitution exon 1 VAR_053224 Q8NGY6:p.Ala204Val SP substitution exon 1 VAR_053225 O76100:p.Met151Thr SP substitution exon 1 VAR_053226 O76100:p.Ile225Leu SP substitution exon 1 VAR_053227 O76100:p.Ala273Thr SP substitution exon 1 VAR_053228 O14581:p.Val37Ala SP substitution exon 1 VAR_053229 O14581:p.Ile46Thr SP substitution exon 1 VAR_053230 O14581:p.Ala69Ser SP substitution exon 1 VAR_053231 O14581:p.Ala237Thr SP substitution exon 1 VAR_053232 O76099:p.Ser99Gly SP substitution exon 1 VAR_053233 O76099:p.Glu171Lys SP substitution exon 1 VAR_053234 O60412:p.Arg122His SP substitution exon 1 VAR_053235 Q96RA2:p.Thr197Met SP substitution exon 1 VAR_053236 Q6IFN5:p.Ser193Phe SP substitution exon 1 VAR_053237 Q6IFN5:p.Pro242Ser SP substitution exon 1 VAR_053238 Q8NGG7:p.Ser218Leu SP substitution exon 1 VAR_053239 Q96RC9:p.Glu22Gly SP substitution exon 1 VAR_053240 Q96RC9:p.Cys140Phe SP substitution exon 1 VAR_053241 Q96RC9:p.Cys178Arg SP substitution exon 1 VAR_053242 Q8WZ84:p.Phe102Val SP substitution exon 1 VAR_053243 Q8WZ84:p.Cys127Trp SP substitution exon 1 VAR_053244 Q9GZM6:p.Pro263Leu SP substitution exon 1 VAR_053245 Q8NGM9:p.Cys120Tyr SP substitution exon 1 VAR_053246 Q8NGG4:p.Gly2Ser SP substitution exon 1 VAR_053253 Q8NGT5:p.Arg53His SP substitution exon 1 VAR_053257 Q8NGQ1:p.Phe43Ser SP substitution exon 1 VAR_053258 Q8NGQ1:p.Asn206Asp SP substitution exon 1 VAR_053259 Q8NGQ1:p.Val222Ala SP substitution exon 1 VAR_053260 Q8NGQ5:p.Arg159Leu SP substitution exon 1 VAR_053261 Q9H208:p.Ala134Thr SP substitution exon 1 VAR_053262 P58181:p.Phe20Val SP substitution exon 1 VAR_053263 Q8NH74:p.Ala117Val SP substitution exon 1 VAR_053264 Q8NH74:p.Val140Gly SP substitution exon 1 VAR_053265 Q8NH74:p.Leu287Pro SP substitution exon 1 VAR_053266 Q8NGE5:p.Gly96Ser SP substitution exon 1 VAR_053267 Q8NGE0:p.Val8Ala SP substitution exon 1 VAR_053268 Q8NGE0:p.Arg166Gln SP substitution exon 1 VAR_053269 Q8NGE0:p.Phe275Val SP substitution exon 1 VAR_053270 Q8NGC3:p.Leu67Phe SP substitution exon 1 VAR_053271 Q8NGC3:p.Arg85Leu SP substitution exon 1 VAR_053272 Q8NGC3:p.Arg187Pro SP substitution exon 1 VAR_053273 Q8NGC3:p.Arg209Gly SP substitution exon 1 VAR_053274 Q8NGC4:p.Ser73Gly SP substitution exon 1 VAR_053275 Q8NGN3:p.Leu24Pro SP substitution exon 1 VAR_053276 Q8NGN3:p.Met134Val SP substitution exon 1 VAR_053277 Q8NGN3:p.Pro181Ser SP substitution exon 1 VAR_053278 Q8NGN3:p.Arg226Gln SP substitution exon 1 VAR_053279 Q8NGN3:p.Lys295Gln SP substitution exon 1 VAR_053280 Q8NGN4:p.Met134Val SP substitution exon 1 VAR_053281 P30954:p.Ile103Met SP substitution exon 1 VAR_053282 Q5JRS4:p.Gln235Arg SP substitution exon 1 VAR_053283 Q6IF99:p.Ala208Thr SP substitution exon 1 VAR_053284 Q8NGX3:p.Val16Ala SP substitution exon 1 VAR_053285 Q8NGX3:p.Phe65Leu SP substitution exon 1 VAR_053286 Q8NGX3:p.Ile78Val SP substitution exon 1 VAR_053287 Q8NGX3:p.Ile137Met SP substitution exon 1 VAR_053288 Q8NGX3:p.Phe155Leu SP substitution exon 1 VAR_053289 Q8NGX3:p.Lys312Asn SP substitution exon 1 VAR_053290 Q8NGY0:p.Ile60Thr SP substitution exon 1 VAR_053291 Q8NGY0:p.Ala81Ser SP substitution exon 1 VAR_053292 Q8NGY0:p.Ser172Pro SP substitution exon 1 VAR_053293 Q8NGY0:p.Phe180Leu SP substitution exon 1 VAR_053295 Q8NGX0:p.Gly108Ser SP substitution exon 1 VAR_053296 Q8NGX0:p.Ala142Thr SP substitution exon 1 VAR_053297 Q8NGX0:p.Arg171Pro SP substitution exon 1 VAR_053299 Q8NGS8:p.Ser18Phe SP substitution exon 1 VAR_053300 Q8NGS8:p.Asn195Ser SP substitution exon 1 VAR_053301 Q8NGT0:p.Phe197Leu SP substitution exon 1 VAR_053302 Q8NGS4:p.Val134Ile SP substitution exon 1 VAR_053303 Q8NGS4:p.Ile270Thr SP substitution exon 1 VAR_053304 Q8NGT2:p.His133Arg SP substitution exon 1 VAR_053305 Q8NGJ7:p.Lys289Asn SP substitution exon 1 VAR_053306 Q8NGJ6:p.Asp72Asn SP substitution exon 1 VAR_053307 Q9H339:p.Gly5Ser SP substitution exon 1 VAR_053308 Q9H339:p.Ile102Thr SP substitution exon 1 VAR_053309 Q9H339:p.Val154Ile SP substitution exon 1 VAR_053310 Q9H339:p.Pro160Leu SP substitution exon 1 VAR_053311 Q9H339:p.Leu220Phe SP substitution exon 1 VAR_053312 Q9H340:p.Lys5Thr SP substitution exon 1 VAR_053313 Q9H340:p.Asn40Ser SP substitution exon 1 VAR_053314 Q9H340:p.Ile90Thr SP substitution exon 1 VAR_053315 Q9H340:p.Thr123Ala SP substitution exon 1 VAR_053316 Q9H340:p.Thr131Ile SP substitution exon 1 VAR_053317 Q9H340:p.Arg145Gly SP substitution exon 1 VAR_053318 Q9H340:p.Ser169Ala SP substitution exon 1 VAR_053319 Q9H340:p.Leu172Phe SP substitution exon 1 VAR_053320 Q9H340:p.Phe192Leu SP substitution exon 1 VAR_053321 Q9H340:p.Val254Leu SP substitution exon 1 VAR_053322 Q9H340:p.Ser275Arg SP substitution exon 1 VAR_053323 Q8NGF3:p.Ile89Val SP substitution exon 1 VAR_053324 Q8NGK1:p.Ser114Leu SP substitution exon 1 VAR_053325 Q8NGK1:p.Arg124His SP substitution exon 1 VAR_053326 Q8NGK1:p.Ile195Thr SP substitution exon 1 VAR_053327 Q8NGK0:p.Ala94Glu SP substitution exon 1 VAR_053328 Q9H343:p.Arg124His SP substitution exon 1 VAR_053329 Q8NH59:p.Val155Ile SP substitution exon 1 VAR_053330 Q8NH59:p.Phe308Ser SP substitution exon 1 VAR_053331 Q8NGJ8:p.Leu264Phe SP substitution exon 1 VAR_053332 Q8NGJ4:p.Asn5Ser SP substitution exon 1 VAR_053333 Q8NGJ4:p.Arg167Trp SP substitution exon 1 VAR_053334 Q8NGJ4:p.Arg264Cys SP substitution exon 1 VAR_053335 Q8NH53:p.Thr79Asn SP substitution exon 1 VAR_053336 Q8NH53:p.Ala101Thr SP substitution exon 1 VAR_053337 Q8NH53:p.Cys125Tyr SP substitution exon 1 CFMDB_1923 c.(?_744)_(2988_?)dup CFMDB duplication not within known transcription unit 1 CFMDB_1185 c.-887_-885delCTC CFMDB deletion not within known transcription unit 1 CFMDB_0 c.-887C>T CFMDB substitution not within known transcription unit 1 CFMDB_1053 c.-495C>T CFMDB substitution not within known transcription unit 1 CFMDB_1517 c.-93G>C CFMDB substitution 5' UTR 1 CFMDB_1109 c.-85C>G CFMDB substitution 5' UTR 1 CFMDB_1107 c.-34C>T CFMDB substitution 5' UTR 1 CFMDB_902 c.-8G>C CFMDB substitution 5' UTR 1 CFMDB_955 c.-4G>C CFMDB substitution 5' UTR 1 CFMDB_1365 c.-9_14del23 CFMDB deletion 5' UTR 1 CFMDB_3 c.-165G>A CFMDB substitution not within known transcription unit 1 CFMDB_815 c.-226G>T CFMDB substitution not within known transcription unit 1 CFMDB_901 c.-461A>G CFMDB substitution not within known transcription unit 1 CFMDB_1410 c.-593A>G CFMDB substitution not within known transcription unit 1 CFMDB_5 c.1A>G CFMDB substitution exon 1 CFMDB_1694 c.1A>C CFMDB substitution exon 1 CFMDB_1551 c.-26G>A CFMDB substitution 5' UTR 1 CFMDB_2 c.-603_-601delAAG CFMDB deletion not within known transcription unit 1 CFMDB_712 c.-234T>A CFMDB substitution not within known transcription unit 1 CFMDB_1675 c.-721G>A CFMDB substitution not within known transcription unit 1 CFMDB_833 c.-869T[8_9] CFMDB complex not within known transcription unit 1 CFMDB_1814 c.-751a>G CFMDB substitution not within known transcription unit 1 CFMDB_1 c.-812T>G CFMDB substitution not within known transcription unit 1 CFMDB_1809 c.-484t>G CFMDB substitution not within known transcription unit 1 CFMDB_1808 c.-444g>A CFMDB substitution not within known transcription unit 1 CFMDB_720 c.-966T>G CFMDB substitution not within known transcription unit 1 CFMDB_1898 c.-410g>C CFMDB substitution not within known transcription unit 1 CFMDB_1915 c.-427c>T CFMDB substitution not within known transcription unit 1 CFMDB_1920 c.-274c>A CFMDB substitution not within known transcription unit 1 CFMDB_1925 c.-737g>A CFMDB substitution not within known transcription unit 1 CFMDB_1914 c.-943a>G CFMDB substitution not within known transcription unit 1 CFMDB_1939 c.-497c>T CFMDB substitution not within known transcription unit 1 CFMDB_1940 c.-347g>A CFMDB substitution not within known transcription unit 1 CFMDB_1941 c.-224a>A CFMDB substitution not within known transcription unit 1 CFMDB_2004 c.-276_53+2553del CFMDB deletion not within known transcription unit 1 CFMDB_6 c.2T>A CFMDB substitution exon 1 CFMDB_1186 c.2T>C CFMDB substitution exon 1 CFMDB_1910 c.2T>G CFMDB substitution exon 1 CFMDB_1328 c.3_122del120ins300 CFMDB complex exon 1 CFMDB_7 c.3G>A CFMDB substitution exon 1 CFMDB_8 c.3G>T CFMDB substitution exon 1 CFMDB_9 c.4C>T CFMDB substitution exon 1 CFMDB_10 c.11C>A CFMDB substitution exon 1 CFMDB_11 c.14C>T CFMDB substitution exon 1 CFMDB_1280 c.19G>T CFMDB substitution exon 1 CFMDB_876 c.24G>A CFMDB substitution exon 1 CFMDB_872 c.28A>C CFMDB substitution exon 1 CFMDB_733 c.31G>A CFMDB substitution exon 1 CFMDB_1800 c.35_36insTATCA CFMDB insertion exon 1 CFMDB_640 c.38C>T CFMDB substitution exon 1 CFMDB_12 c.40A>T CFMDB substitution exon 1 CFMDB_630 c.42delA CFMDB deletion exon 1 CFMDB_13 c.43delC CFMDB deletion exon 1 CFMDB_14 c.43_44insT CFMDB insertion exon 1 CFMDB_1442 c.44T>C CFMDB substitution exon 1 CFMDB_1705 c.49_50dupTT CFMDB duplication exon 1 CFMDB_15 c.50delT CFMDB deletion exon 1 CFMDB_1512 c.52A>G CFMDB substitution exon 1 CFMDB_893 c.53+1G>T CFMDB substitution intron 1 CFMDB_16 c.53+4A>T CFMDB substitution intron 1 CFMDB_1032 c.53+45A>G CFMDB substitution intron 1 CFMDB_1916 c.53+178t>C CFMDB substitution intron 1 CFMDB_1917 c.53+324a>G CFMDB substitution intron 1 CFMDB_1942 c.53+212c>T CFMDB substitution intron 1 CFMDB_1943 c.53+248g>C CFMDB substitution intron 1 CFMDB_1944 c.53+400g>A CFMDB substitution intron 1 CFMDB_1636 c.54-1161_164+1603del2875 CFMDB deletion intron 1 CFMDB_17 c.54-13C>G CFMDB substitution intron 1 CFMDB_1790 c.54-2a>G CFMDB substitution intron 1 CFMDB_1720 c.54-4235_164+377dup4723 CFMDB duplication intron 1 CFMDB_1821 c.54-1G>A CFMDB substitution intron 1 CFMDB_18 c.57G>T CFMDB substitution exon 1 CFMDB_702 c.57G>A CFMDB substitution exon 1 CFMDB_1402 c.72G>C CFMDB substitution exon 1 CFMDB_1894 c.76A>G CFMDB substitution exon 1 CFMDB_1463 c.79G>C CFMDB substitution exon 1 CFMDB_1419 c.79G>A CFMDB substitution exon 1 CFMDB_20 c.79G>T CFMDB substitution exon 1 CFMDB_19 c.80delG CFMDB deletion exon 1 CFMDB_21 c.80G>A CFMDB substitution exon 1 CFMDB_22 c.88C>T CFMDB substitution exon 1 CFMDB_1001 c.91C>T CFMDB substitution exon 1 CFMDB_860 c.91C>T CFMDB substitution exon 1 CFMDB_23 c.92G>T CFMDB substitution exon 1 CFMDB_1740 c.95T>C CFMDB substitution exon 1 CFMDB_587 c.100_117delTTGTCAGACATATACCAA CFMDB deletion exon 1 CFMDB_24 c.105_106insA CFMDB insertion exon 1 CFMDB_1348 c.106G>A CFMDB substitution exon 1 CFMDB_1778 c.109A>G CFMDB substitution exon 1 CFMDB_25 c.111_112delAT CFMDB deletion exon 1 CFMDB_703 c.112_113delTA CFMDB deletion exon 1 CFMDB_1875 c.114C>G CFMDB substitution exon 1 CFMDB_26 c.115C>T CFMDB substitution exon 1 CFMDB_27 c.125C>T CFMDB substitution exon 1 CFMDB_1986 c.-947g>C CFMDB substitution not within known transcription unit 1 CFMDB_1002 c.131A>T CFMDB substitution exon 1 CFMDB_28 c.131A>G CFMDB substitution exon 1 CFMDB_29 c.137C>A CFMDB substitution exon 1 CFMDB_1840 c.137C>T CFMDB substitution exon 1 CFMDB_699 c.147A>G CFMDB substitution exon 1 CFMDB_874 c.148T>C CFMDB substitution exon 1 CFMDB_31 c.149C>A CFMDB substitution exon 1 CFMDB_32 c.156delA CFMDB deletion exon 1 CFMDB_690 c.163_164ins8 CFMDB insertion exon 1 CFMDB_33 c.164+1G>C CFMDB substitution intron 1 CFMDB_34 c.164+2T>C CFMDB substitution intron 1 CFMDB_35 c.164+12T>C CFMDB substitution intron 1 CFMDB_907 c.164+129G>C CFMDB substitution intron 1 CFMDB_1331 c.164+1G>A CFMDB substitution intron 1 CFMDB_1494 c.164G>A CFMDB substitution exon 1 CFMDB_1368 c.164+28A>G CFMDB substitution intron 1 CFMDB_1336 c.164+2T>A CFMDB substitution intron 1 CFMDB_1401 c.164+2T>G CFMDB substitution intron 1 CFMDB_1130 c.164+1G>T CFMDB substitution intron 1 CFMDB_647 c.164+9A>T CFMDB substitution intron 1 CFMDB_971 c.164+3_164+4insT CFMDB insertion intron 1 CFMDB_1979 c.164_263dupGAGAATGGGATAGAGAGCTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTTTTTCTGGAGATTTATGTTCTATGGAATCTTTTT CFMDB duplication exon 1 CFMDB_904 c.165-67A>C CFMDB substitution intron 1 CFMDB_1343 c.165-55C>T CFMDB substitution intron 1 CFMDB_38 c.165-3C>T CFMDB substitution intron 1 CFMDB_850 c.165-3C>A CFMDB substitution intron 1 CFMDB_1555 c.165-73A>G CFMDB substitution intron 1 CFMDB_36 c.165-27_65-28insA CFMDB insertion intron 1 CFMDB_1187 c.165-12_165-11insA CFMDB insertion intron 1 CFMDB_1626 c.165-45A>G CFMDB substitution intron 1 CFMDB_1052 c.165-10T>G CFMDB substitution intron 1 CFMDB_37 c.165-2A>G CFMDB substitution intron 1 CFMDB_892 c.165-50A>G CFMDB substitution intron 1 CFMDB_1553 c.165-57G>T CFMDB substitution intron 1 CFMDB_1803 c.165-1g>A CFMDB substitution intron 1 CFMDB_624 c.166G>A CFMDB substitution exon 1 CFMDB_39 c.168delA CFMDB deletion exon 1 CFMDB_731 c.169T>C CFMDB substitution exon 1 CFMDB_40 c.169T>G CFMDB substitution exon 1 CFMDB_41 c.170G>A CFMDB substitution exon 1 CFMDB_1143 c.171G>A CFMDB substitution exon 1 CFMDB_625 c.172G>A CFMDB substitution exon 1 CFMDB_1119 c.173A>G CFMDB substitution exon 1 CFMDB_43 c.174_175insA CFMDB insertion exon 1 CFMDB_42 c.174_177delTAGA CFMDB deletion exon 1 CFMDB_1123 c.178G>A CFMDB substitution exon 1 CFMDB_44 c.178G>T CFMDB substitution exon 1 CFMDB_1465 c.182T>C CFMDB substitution exon 1 CFMDB_1355 c.190A>G CFMDB substitution exon 1 CFMDB_45 c.197A>G CFMDB substitution exon 1 CFMDB_46 c.200C>T CFMDB substitution exon 1 CFMDB_810 c.202A>G CFMDB substitution exon 1 CFMDB_47 c.204A>T CFMDB substitution exon 1 CFMDB_1717 c.206T>G CFMDB substitution exon 1 CFMDB_1003 c.213T>C CFMDB substitution exon 1 CFMDB_1045 c.214G>A CFMDB substitution exon 1 CFMDB_48 c.217delC CFMDB deletion exon 1 CFMDB_648 c.215C>A CFMDB substitution exon 1 CFMDB_49 c.220C>T CFMDB substitution exon 1 CFMDB_1082 c.221G>A CFMDB substitution exon 1 CFMDB_50 c.223C>T CFMDB substitution exon 1 CFMDB_1004 c.224G>A CFMDB substitution exon 1 CFMDB_51 c.224G>T CFMDB substitution exon 1 CFMDB_52 c.227_228insT CFMDB insertion exon 1 CFMDB_1715 c.228T>G CFMDB substitution exon 1 CFMDB_1439 c.233_234insT CFMDB insertion exon 1 CFMDB_805 c.233delT CFMDB deletion exon 1 CFMDB_1334 c.228_229insT CFMDB insertion exon 1 CFMDB_1781 c.234delC CFMDB deletion exon 1 CFMDB_53 c.235T>C CFMDB substitution exon 1 CFMDB_54 c.236G>A CFMDB substitution exon 1 CFMDB_1548 c.244A>G CFMDB substitution exon 1 CFMDB_1335 c.247_248insT CFMDB insertion exon 1 CFMDB_1583 c.250T>C CFMDB substitution exon 1 CFMDB_56 c.254G>T CFMDB substitution exon 1 CFMDB_55 c.254G>A CFMDB substitution exon 1 CFMDB_58 c.259T>C CFMDB substitution exon 1 CFMDB_1728 c.259T>A CFMDB substitution exon 1 CFMDB_1848 c.260T>C CFMDB substitution exon 1 CFMDB_57 c.262_263delTT CFMDB deletion exon 1 CFMDB_59 c.263T>C CFMDB substitution exon 1 CFMDB_61 c.263T>G CFMDB substitution exon 1 CFMDB_60 c.263T>A CFMDB substitution exon 1 CFMDB_1988 c.264_268delATATT CFMDB deletion exon 1 CFMDB_1092 c.266A>G CFMDB substitution exon 1 CFMDB_1133 c.269T>C CFMDB substitution exon 1 CFMDB_62 c.271G>A CFMDB substitution exon 1 CFMDB_64 c.273+3A>C CFMDB substitution intron 1 CFMDB_1826 c.273+10247C>T CFMDB substitution intron 1 CFMDB_1827 c.273+10255delC CFMDB deletion intron 1 CFMDB_63 c.273+1G>A CFMDB substitution intron 1 CFMDB_840 c.273+42A>G CFMDB substitution intron 1 CFMDB_65 c.273+4A>G CFMDB substitution intron 1 CFMDB_905 c.273+46T>G CFMDB substitution intron 1 CFMDB_1980 c.273+2t>G CFMDB substitution intron 1 CFMDB_1203 c.274-13T>C CFMDB substitution intron 1 CFMDB_66 c.274-10C>G CFMDB substitution intron 1 CFMDB_67 c.274-6T>C CFMDB substitution intron 1 CFMDB_848 c.274-3T>C CFMDB substitution intron 1 CFMDB_68 c.274-2A>C CFMDB substitution intron 1 CFMDB_69 c.274-1G>C CFMDB substitution intron 1 CFMDB_70 c.274-1G>T CFMDB substitution intron 1 CFMDB_906 c.274-112T>A CFMDB substitution intron 1 CFMDB_631 c.274-2A>G CFMDB substitution intron 1 CFMDB_1671 c.274-82T>A CFMDB substitution intron 1 CFMDB_71 c.274G>A CFMDB substitution exon 1 CFMDB_72 c.274G>T CFMDB substitution exon 1 CFMDB_885 c.274-1G>A CFMDB substitution intron 1 CFMDB_1403 c.274-5T>G CFMDB substitution intron 1 CFMDB_1065 c.274-83A>G CFMDB substitution intron 1 CFMDB_1422 c.276A>T CFMDB substitution exon 1 CFMDB_1815 c.278T>A CFMDB substitution exon 1 CFMDB_636 c.280_286delACCAAAG CFMDB deletion exon 1 CFMDB_1134 c.287C>A CFMDB substitution exon 1 CFMDB_73 c.292C>T CFMDB substitution exon 1 CFMDB_74 c.293A>G CFMDB substitution exon 1 CFMDB_1214 c.293A>C CFMDB substitution exon 1 CFMDB_75 c.296C>T CFMDB substitution exon 1 CFMDB_1352 c.302T>C CFMDB substitution exon 1 CFMDB_593 c.302T>G CFMDB substitution exon 1 CFMDB_76 c.303_304insA CFMDB insertion exon 1 CFMDB_1485 c.305T>G CFMDB substitution exon 1 CFMDB_1254 c.305T>C CFMDB substitution exon 1 CFMDB_77 c.307G>T CFMDB substitution exon 1 CFMDB_78 c.310delA CFMDB deletion exon 1 CFMDB_79 c.313delA CFMDB deletion exon 1 CFMDB_1108 c.314T>A CFMDB substitution exon 1 CFMDB_735 c.319_326delGCTTCCTA CFMDB deletion exon 1 CFMDB_1629 c.320C>G CFMDB substitution exon 1 CFMDB_80 c.323C>T CFMDB substitution exon 1 CFMDB_891 c.325T>A CFMDB substitution exon 1 CFMDB_81 c.325_327delTATinsG CFMDB complex exon 1 CFMDB_1811 c.325T>C CFMDB substitution exon 1 CFMDB_82 c.326A>G CFMDB substitution exon 1 CFMDB_863 c.326_327delAT CFMDB deletion exon 1 CFMDB_1342 c.327T>A CFMDB substitution exon 1 CFMDB_1290 c.328G>A CFMDB substitution exon 1 CFMDB_84 c.328G>C CFMDB substitution exon 1 CFMDB_1124 c.328G>T CFMDB substitution exon 1 CFMDB_83 c.328delG CFMDB deletion exon 1 CFMDB_1097 c.330C>A CFMDB substitution exon 1 CFMDB_696 c.331C>G CFMDB substitution exon 1 CFMDB_85 c.332C>T CFMDB substitution exon 1 CFMDB_1062 c.333G>A CFMDB substitution exon 1 CFMDB_1630 c.338A>T CFMDB substitution exon 1 CFMDB_1416 c.340A>T CFMDB substitution exon 1 CFMDB_86 c.343_345del CFMDB deletion exon 1 CFMDB_1116 c.346G>C CFMDB substitution exon 1 CFMDB_87 c.346G>A CFMDB substitution exon 1 CFMDB_88 c.349C>T CFMDB substitution exon 1 CFMDB_1464 c.349C>G CFMDB substitution exon 1 CFMDB_89 c.350G>A CFMDB substitution exon 1 CFMDB_90 c.350G>C CFMDB substitution exon 1 CFMDB_91 c.350G>T CFMDB substitution exon 1 CFMDB_1231 c.355A>G CFMDB substitution exon 1 CFMDB_1423 c.357delC CFMDB deletion exon 1 CFMDB_1552 c.357C>T CFMDB substitution exon 1 CFMDB_92 c.358G>A CFMDB substitution exon 1 CFMDB_1278 c.359C>T CFMDB substitution exon 1 CFMDB_1005 c.360G>A CFMDB substitution exon 1 CFMDB_1495 c.364T>C CFMDB substitution exon 1 CFMDB_1624 c.365A>G CFMDB substitution exon 1 CFMDB_93 c.366T>A CFMDB substitution exon 1 CFMDB_1850 c.370G>C CFMDB substitution exon 1 CFMDB_882 c.374T>C CFMDB substitution exon 1 CFMDB_1729 c.376G>A CFMDB substitution exon 1 CFMDB_94 c.377G>A CFMDB substitution exon 1 CFMDB_1864 c.379_381dupTTA CFMDB duplication exon 1 CFMDB_95 c.380T>G CFMDB substitution exon 1 CFMDB_1805 c.382T>C CFMDB substitution exon 1 CFMDB_1447 c.387delT CFMDB deletion exon 1 CFMDB_1693 c.388C>G CFMDB substitution exon 1 CFMDB_857 c.393delT CFMDB deletion exon 1 CFMDB_739 c.396T>G CFMDB substitution exon 1 CFMDB_1877 c.405_406dupAC CFMDB duplication exon 1 CFMDB_96 c.409delC CFMDB deletion exon 1 CFMDB_97 c.409_412delCTCC CFMDB deletion exon 1 CFMDB_649 c.410T>C CFMDB substitution exon 1 CFMDB_611 c.410T>A CFMDB substitution exon 1 CFMDB_732 c.410T>G CFMDB substitution exon 1 CFMDB_626 c.412_413insACT CFMDB insertion exon 1 CFMDB_1006 c.413T>C CFMDB substitution exon 1 CFMDB_1118 c.414_415insCTA CFMDB insertion exon 1 CFMDB_650 c.415_416insTA CFMDB insertion exon 1 CFMDB_1589 c.415_416insGA CFMDB insertion exon 1 CFMDB_1217 c.416A>T CFMDB substitution exon 1 CFMDB_98 c.416A>G CFMDB substitution exon 1 CFMDB_711 c.417C>T CFMDB substitution exon 1 CFMDB_99 c.418C>T CFMDB substitution exon 1 CFMDB_802 c.419C>T CFMDB substitution exon 1 CFMDB_100 c.420_421insA CFMDB insertion exon 1 CFMDB_101 c.422C>A CFMDB substitution exon 1 CFMDB_102 c.424delA CFMDB deletion exon 1 CFMDB_103 c.429delT CFMDB deletion exon 1 CFMDB_600 c.433delC CFMDB deletion exon 1 CFMDB_1473 c.434T>A CFMDB substitution exon 1 CFMDB_651 c.437A>G CFMDB substitution exon 1 CFMDB_1774 c.442A>T CFMDB substitution exon 1 CFMDB_104 c.442delA CFMDB deletion exon 1 CFMDB_601 c.443T>A CFMDB substitution exon 1 CFMDB_105 c.443T>C CFMDB substitution exon 1 CFMDB_1295 c.444_445insCTA CFMDB insertion exon 1 CFMDB_106 c.445G>A CFMDB substitution exon 1 CFMDB_1806 c.445G>T CFMDB substitution exon 1 CFMDB_1521 c.446G>T CFMDB substitution exon 1 CFMDB_1424 c.451C>A CFMDB substitution exon 1 CFMDB_107 c.451C>T CFMDB substitution exon 1 CFMDB_108 c.454A>G CFMDB substitution exon 1 CFMDB_1524 c.454A>T CFMDB substitution exon 1 CFMDB_979 c.455T>G CFMDB substitution exon 1 CFMDB_109 c.459_476delAATAGCTATGTTTAGTTT CFMDB deletion exon 1 CFMDB_843 c.463G>C CFMDB substitution exon 1 CFMDB_1731 c.470T>A CFMDB substitution exon 1 CFMDB_1188 c.472A>C CFMDB substitution exon 1 CFMDB_1989 c.472dupA CFMDB duplication exon 1 CFMDB_1644 c.473G>A CFMDB substitution exon 1 CFMDB_1613 c.473G>C CFMDB substitution exon 1 CFMDB_1723 c.473G>A CFMDB substitution exon 1 CFMDB_110 c.473_474insT CFMDB insertion exon 1 CFMDB_1132 c.476T>A CFMDB substitution exon 1 CFMDB_1271 c.476T>C CFMDB substitution exon 1 CFMDB_1064 c.480T>A CFMDB substitution exon 1 CFMDB_1178 c.481T>A CFMDB substitution exon 1 CFMDB_996 c.481T>G CFMDB substitution exon 1 CFMDB_1063 c.482A>C CFMDB substitution exon 1 CFMDB_798 c.484A>G CFMDB substitution exon 1 CFMDB_1860 c.488A>C CFMDB substitution exon 1 CFMDB_113 c.489+2T>C CFMDB substitution intron 1 CFMDB_1061 c.489+31C>G CFMDB substitution intron 1 CFMDB_111 c.489G>A CFMDB substitution exon 1 CFMDB_112 c.489+1G>T CFMDB substitution intron 1 CFMDB_114 c.489+2T>G CFMDB substitution intron 1 CFMDB_836 c.489+3A>G CFMDB substitution intron 1 CFMDB_988 c.490-152G>C CFMDB substitution intron 1 CFMDB_1572 c.490-16T>C CFMDB substitution intron 1 CFMDB_115 c.490-2A>C CFMDB substitution intron 1 CFMDB_116 c.490-1G>A CFMDB substitution intron 1 CFMDB_822 c.490-103A>G CFMDB substitution intron 1 CFMDB_1420 c.490-2A>G CFMDB substitution intron 1 CFMDB_986 c.490-116A>G CFMDB substitution intron 1 CFMDB_1874 c.490A>G CFMDB substitution exon 1 CFMDB_117 c.494delT CFMDB deletion exon 1 CFMDB_118 c.494T>C CFMDB substitution exon 1 CFMDB_119 c.496A>G CFMDB substitution exon 1 CFMDB_1735 c.500T>G CFMDB substitution exon 1 CFMDB_120 c.508C>T CFMDB substitution exon 1 CFMDB_868 c.508C>G CFMDB substitution exon 1 CFMDB_1183 c.509G>A CFMDB substitution exon 1 CFMDB_1679 c.518_522delATAAA CFMDB deletion exon 1 CFMDB_121 c.523A>G CFMDB substitution exon 1 CFMDB_122 c.526delA CFMDB deletion exon 1 CFMDB_652 c.530T>C CFMDB substitution exon 1 CFMDB_888 c.531delT CFMDB deletion exon 1 CFMDB_1856 c.531T>G CFMDB substitution exon 1 CFMDB_123 c.532G>A CFMDB substitution exon 1 CFMDB_1441 c.533G>A CFMDB substitution exon 1 CFMDB_1079 c.535C>A CFMDB substitution exon 1 CFMDB_823 c.543_546delTAGT CFMDB deletion exon 1 CFMDB_1008 c.544A>G CFMDB substitution exon 1 CFMDB_1466 c.547C>A CFMDB substitution exon 1 CFMDB_124 c.550delC CFMDB deletion exon 1 CFMDB_878 c.558C>A CFMDB substitution exon 1 CFMDB_987 c.561C>A CFMDB substitution exon 1 CFMDB_1525 c.566A>G CFMDB substitution exon 1 CFMDB_1482 c.567C>A CFMDB substitution exon 1 CFMDB_127 c.574_576delGAT CFMDB deletion exon 1 CFMDB_125 c.574G>A CFMDB substitution exon 1 CFMDB_126 c.575A>G CFMDB substitution exon 1 CFMDB_128 c.577G>A CFMDB substitution exon 1 CFMDB_129 c.577G>T CFMDB substitution exon 1 CFMDB_1690 c.578_579+5delAAGTATG CFMDB deletion not within known transcription unit 1 CFMDB_131 c.579+3A>C CFMDB substitution intron 1 CFMDB_130 c.579+1G>T CFMDB substitution intron 1 CFMDB_653 c.579+34A>G CFMDB substitution intron 1 CFMDB_132 c.579+3A>G CFMDB substitution intron 1 CFMDB_133 c.579+3A>T CFMDB substitution intron 1 CFMDB_134 c.579+5G>A CFMDB substitution intron 1 CFMDB_1945 c.579+36t>G CFMDB substitution intron 1 CFMDB_1984 c.579+38t>C CFMDB substitution intron 1 CFMDB_135 c.580-1G>T CFMDB substitution intron 1 CFMDB_691 c.580-92T>A CFMDB substitution intron 1 CFMDB_1487 c.580G>A CFMDB substitution exon 1 CFMDB_1135 c.581G>T CFMDB substitution exon 1 CFMDB_1068 c.592G>C CFMDB substitution exon 1 CFMDB_1841 c.592G>A CFMDB substitution exon 1 CFMDB_136 c.595C>T CFMDB substitution exon 1 CFMDB_1296 c.596A>G CFMDB substitution exon 1 CFMDB_137 c.597T>G CFMDB substitution exon 1 CFMDB_1224 c.598T>A CFMDB substitution exon 1 CFMDB_1136 c.601G>A CFMDB substitution exon 1 CFMDB_1647 c.601delG CFMDB deletion exon 1 CFMDB_1277 c.606G>A CFMDB substitution exon 1 CFMDB_1009 c.609C>T CFMDB substitution exon 1 CFMDB_1438 c.609C>G CFMDB substitution exon 1 CFMDB_138 c.613C>T CFMDB substitution exon 1 CFMDB_1297 c.614C>G CFMDB substitution exon 1 CFMDB_1895 c.614C>T CFMDB substitution exon 1 CFMDB_139 c.617T>G CFMDB substitution exon 1 CFMDB_725 c.618G>T CFMDB substitution exon 1 CFMDB_140 c.619C>T CFMDB substitution exon 1 CFMDB_942 c.625G>T CFMDB substitution exon 1 CFMDB_974 c.627A>G CFMDB substitution exon 1 CFMDB_1347 c.629T>C CFMDB substitution exon 1 CFMDB_1298 c.639G>T CFMDB substitution exon 1 CFMDB_997 c.647G>A CFMDB substitution exon 1 CFMDB_1684 c.648G>T CFMDB substitution exon 1 CFMDB_844 c.650A>G CFMDB substitution exon 1 CFMDB_1794 c.650_659delAGTTGTTACA CFMDB deletion exon 1 CFMDB_585 c.653T>A CFMDB substitution exon 1 CFMDB_141 c.658C>T CFMDB substitution exon 1 CFMDB_894 c.659A>G CFMDB substitution exon 1 CFMDB_1449 c.663G>A CFMDB substitution exon 1 CFMDB_142 c.673T>C CFMDB substitution exon 1 CFMDB_646 c.675T>A CFMDB substitution exon 1 CFMDB_143 c.680T>G CFMDB substitution exon 1 CFMDB_144 c.695T>A CFMDB substitution exon 1 CFMDB_1865 c.697C>T CFMDB substitution exon 1 CFMDB_1701 c.701C>A CFMDB substitution exon 1 CFMDB_1789 c.708delT CFMDB deletion exon 1 CFMDB_145 c.709C>G CFMDB substitution exon 1 CFMDB_1869 c.711G>C CFMDB substitution exon 1 CFMDB_1537 c.713C>T CFMDB substitution exon 1 CFMDB_1801 c.714delT CFMDB deletion exon 1 CFMDB_146 c.715G>A CFMDB substitution exon 1 CFMDB_2014 c.717delG CFMDB deletion exon 1 CFMDB_147 c.720_741delAGGGAGAATGATGATGAAGTAC CFMDB deletion exon 1 CFMDB_635 c.721G>A CFMDB substitution exon 1 CFMDB_1013 c.727A>C CFMDB substitution exon 1 CFMDB_1946 c.727A>G CFMDB substitution exon 1 CFMDB_148 c.731T>A CFMDB substitution exon 1 CFMDB_1010 c.741C>T CFMDB substitution exon 1 CFMDB_149 c.741C>G CFMDB substitution exon 1 CFMDB_1503 c.742_743insTACA CFMDB insertion exon 1 CFMDB_151 c.743+1G>C CFMDB substitution intron 1 CFMDB_820 c.743G>C CFMDB substitution exon 1 CFMDB_150 c.743+1G>A CFMDB substitution intron 1 CFMDB_909 c.743+40A>G CFMDB substitution intron 1 CFMDB_1828 c.743+4G>T CFMDB substitution intron 1 CFMDB_1571 c.744-8A>C CFMDB substitution intron 1 CFMDB_1036 c.744-3C>T CFMDB substitution intron 1 CFMDB_152 c.744-14_744-3del CFMDB deletion intron 1 CFMDB_153 c.744-10_744-3del CFMDB deletion intron 1 CFMDB_1706 c.744-2a>G CFMDB substitution intron 1 CFMDB_1725 c.744-6_744-3delTTAC CFMDB deletion intron 1 CFMDB_910 c.744-31TTGA(5_7) CFMDB complex intron 1 CFMDB_1981 c.-318_-314delAGGGA CFMDB deletion not within known transcription unit 1 CFMDB_1845 c.769G>A CFMDB substitution exon 1 CFMDB_154 c.772A>G CFMDB substitution exon 1 CFMDB_155 c.773delG CFMDB deletion exon 1 CFMDB_1748 c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA CFMDB complex exon 1 CFMDB_156 c.794T>G CFMDB substitution exon 1 CFMDB_968 c.803delA CFMDB deletion exon 1 CFMDB_157 c.805_806delAT CFMDB deletion exon 1 CFMDB_1779 c.825C>G CFMDB substitution exon 1 CFMDB_158 c.828C>A CFMDB substitution exon 1 CFMDB_1418 c.829T>A CFMDB substitution exon 1 CFMDB_762 c.836_838delAAG CFMDB deletion exon 1 CFMDB_1823 c.-236a>T CFMDB substitution not within known transcription unit 1 CFMDB_1687 c.837A>T CFMDB substitution exon 1 CFMDB_1539 c.837A>T CFMDB substitution exon 1 CFMDB_1272 c.842T>C CFMDB substitution exon 1 CFMDB_159 c.845_846insA CFMDB insertion exon 1 CFMDB_1846 c.846A>T CFMDB substitution exon 1 CFMDB_1506 c.853A>T CFMDB substitution exon 1 CFMDB_1281 c.857_858insA CFMDB insertion exon 1 CFMDB_591 c.859A>T CFMDB substitution exon 1 CFMDB_654 c.859_863delAACTT CFMDB deletion exon 1 CFMDB_1788 c.861C>G CFMDB substitution exon 1 CFMDB_856 c.862_869+1delTTAAGACAG CFMDB deletion not within known transcription unit 1 CFMDB_160 c.868C>T CFMDB substitution exon 1 CFMDB_1329 c.869+4A>C;c.861_865delCTTAA CFMDB complex intron 1 CFMDB_911 c.869+11C>T CFMDB substitution intron 1 CFMDB_912 c.869+12C>T CFMDB substitution intron 1 CFMDB_1386 c.869+3A>T CFMDB substitution intron 1 CFMDB_1707 c.869+5g>A CFMDB substitution intron 1 CFMDB_913 c.870-56C>G CFMDB substitution intron 1 CFMDB_1387 c.870-7_870-5delTTT CFMDB deletion intron 1 CFMDB_1663 c.870-2A>G CFMDB substitution intron 1 CFMDB_161 c.870-3T>G CFMDB substitution intron 1 CFMDB_1807 c.870-7_870-5delTTT CFMDB deletion intron 1 CFMDB_655 c.874G>A CFMDB substitution exon 1 CFMDB_1299 c.877C>A CFMDB substitution exon 1 CFMDB_162 c.881_882delAA CFMDB deletion exon 1 CFMDB_749 c.889C>T CFMDB substitution exon 1 CFMDB_163 c.890G>A CFMDB substitution exon 1 CFMDB_1144 c.895G>A CFMDB substitution exon 1 CFMDB_164 c.902A>G CFMDB substitution exon 1 CFMDB_165 c.912C>G CFMDB substitution exon 1 CFMDB_1516 c.913T>G CFMDB substitution exon 1 CFMDB_1011 c.915C>T CFMDB substitution exon 1 CFMDB_832 c.920G>A CFMDB substitution exon 1 CFMDB_1300 c.925G>A CFMDB substitution exon 1 CFMDB_167 c.927delC CFMDB deletion exon 1 CFMDB_1301 c.926C>T CFMDB substitution exon 1 CFMDB_656 c.926C>G CFMDB substitution exon 1 CFMDB_166 c.926C>A CFMDB substitution exon 1 CFMDB_859 c.927C>G CFMDB substitution exon 1 CFMDB_168 c.933_935delCTT CFMDB deletion exon 1 CFMDB_169 c.933C>G CFMDB substitution exon 1 CFMDB_1483 c.938C>A CFMDB substitution exon 1 CFMDB_170 c.940G>C CFMDB substitution exon 1 CFMDB_737 c.941G>T CFMDB substitution exon 1 CFMDB_171 c.941G>A CFMDB substitution exon 1 CFMDB_1163 c.948T>G CFMDB substitution exon 1 CFMDB_172 c.948delT CFMDB deletion exon 1 CFMDB_173 c.950T>C CFMDB substitution exon 1 CFMDB_1367 c.954G>A CFMDB substitution exon 1 CFMDB_1886 c.955T>G CFMDB substitution exon 1 CFMDB_174 c.958T>G CFMDB substitution exon 1 CFMDB_1228 c.959T>A CFMDB substitution exon 1 CFMDB_1173 c.960A>G CFMDB substitution exon 1 CFMDB_175 c.960A>T CFMDB substitution exon 1 CFMDB_1405 c.961T>C CFMDB substitution exon 1 CFMDB_870 c.964G>A CFMDB substitution exon 1 CFMDB_176 c.965T>C CFMDB substitution exon 1 CFMDB_746 c.966G>A CFMDB substitution exon 1 CFMDB_1698 c.971C>T CFMDB substitution exon 1 CFMDB_871 c.972C>G CFMDB substitution exon 1 CFMDB_1873 c.974A>G CFMDB substitution exon 1 CFMDB_1786 c.974A>G CFMDB substitution exon 1 CFMDB_177 c.980T>G CFMDB substitution exon 1 CFMDB_825 c.980delT CFMDB deletion exon 1 CFMDB_178 c.987delA CFMDB deletion exon 1 CFMDB_179 c.988G>T CFMDB substitution exon 1 CFMDB_1692 c.992T>A CFMDB substitution exon 1 CFMDB_1866 c.997C>T CFMDB substitution exon 1 CFMDB_180 c.1000C>T CFMDB substitution exon 1 CFMDB_632 c.1001G>T CFMDB substitution exon 1 CFMDB_181 c.1001G>A CFMDB substitution exon 1 CFMDB_182 c.1006_1007insG CFMDB insertion exon 1 CFMDB_1911 c.1006A>C CFMDB substitution exon 1 CFMDB_183 c.1007T>A CFMDB substitution exon 1 CFMDB_1496 c.1012A>G CFMDB substitution exon 1 CFMDB_184 c.1013C>T CFMDB substitution exon 1 CFMDB_1587 c.1016_1018del CFMDB deletion exon 1 CFMDB_1681 c.1018_1019insTC CFMDB insertion exon 1 CFMDB_185 c.1018delA CFMDB deletion exon 1 CFMDB_1302 c.1019T>A CFMDB substitution exon 1 CFMDB_1371 c.1008_1019dup12 CFMDB duplication exon 1 CFMDB_1477 c.1021T>C CFMDB substitution exon 1 CFMDB_186 c.1022_1023insTC CFMDB insertion exon 1 CFMDB_187 c.1029delC CFMDB deletion exon 1 CFMDB_188 c.1029_1030insG CFMDB insertion exon 1 CFMDB_1554 c.1032T>A CFMDB substitution exon 1 CFMDB_1887 c.1036C>T CFMDB substitution exon 1 CFMDB_189 c.1037T>C CFMDB substitution exon 1 CFMDB_190 c.1039C>T CFMDB substitution exon 1 CFMDB_191 c.1040G>A CFMDB substitution exon 1 CFMDB_192 c.1040G>T CFMDB substitution exon 1 CFMDB_193 c.1040G>C CFMDB substitution exon 1 CFMDB_1467 c.1042A>G CFMDB substitution exon 1 CFMDB_194 c.1043T>A CFMDB substitution exon 1 CFMDB_1545 c.1043T>C CFMDB substitution exon 1 CFMDB_195 c.1046C>T CFMDB substitution exon 1 CFMDB_864 c.1052C>G CFMDB substitution exon 1 CFMDB_1699 c.1052C>T CFMDB substitution exon 1 CFMDB_1395 c.1053_1054delTC CFMDB deletion exon 1 CFMDB_1346 c.1054C>G CFMDB substitution exon 1 CFMDB_605 c.1054C>T CFMDB substitution exon 1 CFMDB_196 c.1055G>A CFMDB substitution exon 1 CFMDB_1099 c.1057C>T CFMDB substitution exon 1 CFMDB_865 c.1059A>C CFMDB substitution exon 1 CFMDB_1535 c.1063C>T CFMDB substitution exon 1 CFMDB_1408 c.1067G>C CFMDB substitution exon 1 CFMDB_657 c.1069delG CFMDB deletion exon 1 CFMDB_803 c.1068G>A CFMDB substitution exon 1 CFMDB_197 c.[1075C>A;1079C>A] CFMDB substitution exon 1 CFMDB_1146 c.1076A>G CFMDB substitution exon 1 CFMDB_704 c.1079C>G CFMDB substitution exon 1 CFMDB_199 c.1081T>C CFMDB substitution exon 1 CFMDB_1042 c.1081T>A CFMDB substitution exon 1 CFMDB_198 c.1081delT CFMDB deletion exon 1 CFMDB_200 c.1083delG CFMDB deletion exon 1 CFMDB_1754 c.1086T>A CFMDB substitution exon 1 CFMDB_1792 c.1086T>G CFMDB substitution exon 1 CFMDB_201 c.1093_1094delCT CFMDB deletion exon 1 CFMDB_1893 c.1089_1091delinsAAT CFMDB complex exon 1 CFMDB_202 c.1090T>C CFMDB substitution exon 1 CFMDB_1125 c.1094T>C CFMDB substitution exon 1 CFMDB_1667 c.1101A>T CFMDB substitution exon 1 CFMDB_203 c.1111_1112ins6 CFMDB insertion exon 1 CFMDB_1969 c.1114C>T CFMDB substitution exon 1 CFMDB_1303 c.1116+1G>C CFMDB substitution intron 1 CFMDB_914 c.1116+17C>T CFMDB substitution intron 1 CFMDB_1570 c.1116+31A>C CFMDB substitution intron 1 CFMDB_592 c.1116+52T>C CFMDB substitution intron 1 CFMDB_204 c.1116+1G>A CFMDB substitution intron 1 CFMDB_2000 c.1116+4a>T CFMDB substitution intron 1 CFMDB_915 c.1117-82C>T CFMDB substitution intron 1 CFMDB_205 c.1117-5A>G CFMDB substitution intron 1 CFMDB_1611 c.1117-31A>G CFMDB substitution intron 1 CFMDB_883 c.1117-27_1117-26delTA CFMDB deletion intron 1 CFMDB_586 c.1117-30_1117-29delTA CFMDB deletion intron 1 CFMDB_1769 c.1117-1g>A CFMDB substitution intron 1 CFMDB_1787 c.1117-18g>T CFMDB substitution intron 1 CFMDB_1934 c.1117-33c>A CFMDB substitution intron 1 CFMDB_1936 c.1117-37g>A CFMDB substitution intron 1 CFMDB_1576 c.1119T>G CFMDB substitution exon 1 CFMDB_206 c.1125A>C CFMDB substitution exon 1 CFMDB_588 c.1127_1128insA CFMDB insertion exon 1 CFMDB_1261 c.1133A>G CFMDB substitution exon 1 CFMDB_1225 c.1135G>A CFMDB substitution exon 1 CFMDB_1129 c.1135G>T CFMDB substitution exon 1 CFMDB_710 c.1148T>C CFMDB substitution exon 1 CFMDB_1147 c.1149G>A CFMDB substitution exon 1 CFMDB_207 c.1152delA CFMDB deletion exon 1 CFMDB_1362 c.1153_1154insAT CFMDB insertion exon 1 CFMDB_1683 c.1157_1158insTA CFMDB insertion exon 1 CFMDB_1269 c.1159_1160delTT CFMDB deletion exon 1 CFMDB_695 c.1162_1168delACGACTA CFMDB deletion exon 1 CFMDB_208 c.1162_1163delACinsTA CFMDB complex exon 1 CFMDB_658 c.1163C>T CFMDB substitution exon 1 CFMDB_209 c.1164G>T CFMDB substitution exon 1 CFMDB_659 c.1175T>C CFMDB substitution exon 1 CFMDB_816 c.1175T>G CFMDB substitution exon 1 CFMDB_604 c.1177delG CFMDB deletion exon 1 CFMDB_1137 c.1181T>G CFMDB substitution exon 1 CFMDB_1680 c.1186A>T CFMDB substitution exon 1 CFMDB_1000 c.1191_1192insA CFMDB insertion exon 1 CFMDB_1685 c.1196C>T CFMDB substitution exon 1 CFMDB_1273 c.1196C>A CFMDB substitution exon 1 CFMDB_1083 c.1196C>T CFMDB substitution exon 1 CFMDB_718 c.1202G>A CFMDB substitution exon 1 CFMDB_211 c.1203G>A CFMDB substitution exon 1 CFMDB_212 c.1209+18A>C CFMDB substitution intron 1 CFMDB_980 c.1209+28C>T CFMDB substitution intron 1 CFMDB_1569 c.1209+79C>T CFMDB substitution intron 1 CFMDB_1148 c.1209G>C CFMDB substitution exon 1 CFMDB_618 c.1209+1G>A CFMDB substitution intron 1 CFMDB_1509 c.1209+80G>A CFMDB substitution intron 1 CFMDB_1041 c.1209G>A CFMDB substitution exon 1 CFMDB_1639 c.1209+6A>G CFMDB substitution intron 1 CFMDB_1361 c.1210-12T[5_9] CFMDB complex intron 1 CFMDB_214 c.1210-2A>C CFMDB substitution intron 1 CFMDB_873 c.1210-1G>C CFMDB substitution intron 1 CFMDB_215 c.1210-2_1210-1delAG CFMDB deletion intron 1 CFMDB_1678 c.1210-1delG CFMDB deletion intron 1 CFMDB_919 c.1210-13G>T CFMDB substitution intron 1 CFMDB_213 c.1210-11T>G CFMDB substitution intron 1 CFMDB_957 c.1242-310GT[8_13] CFMDB complex intron 1 CFMDB_918 c.1242-35_1242-12GT[8_10] CFMDB complex intron 1 CFMDB_994 c.1220A>T CFMDB substitution exon 1 CFMDB_1716 c.1220_1239delAATTATTTGAGAAAGCAAAA CFMDB deletion exon 1 CFMDB_1703 c.1227delT CFMDB deletion exon 1 CFMDB_752 c.1234delG CFMDB deletion exon 1 CFMDB_1149 c.1235delC CFMDB deletion exon 1 CFMDB_985 c.1240_1244delCAAAA CFMDB deletion exon 1 CFMDB_216 c.1240C>T CFMDB substitution exon 1 CFMDB_1538 c.1247A>G CFMDB substitution exon 1 CFMDB_217 c.1253A>G CFMDB substitution exon 1 CFMDB_1795 c.1261A>G CFMDB substitution exon 1 CFMDB_1087 c.1270G>A CFMDB substitution exon 1 CFMDB_1546 c.1291A>G CFMDB substitution exon 1 CFMDB_813 c.1301C>G CFMDB substitution exon 1 CFMDB_1766 c.1310G>T CFMDB substitution exon 1 CFMDB_1924 c.1312A>G CFMDB substitution exon 1 CFMDB_1501 c.1315C>T CFMDB substitution exon 1 CFMDB_1760 c.1322T>C CFMDB substitution exon 1 CFMDB_1750 c.1324A>T CFMDB substitution exon 1 CFMDB_218 c.1327G>T CFMDB substitution exon 1 CFMDB_219 c.1330_1331delAT CFMDB deletion exon 1 CFMDB_1568 c.1329T>C CFMDB substitution exon 1 CFMDB_220 c.1329_1330insAGAT CFMDB insertion exon 1 CFMDB_1638 c.1331T>C CFMDB substitution exon 1 CFMDB_995 c.1331T>G CFMDB substitution exon 1 CFMDB_1031 c.1340delA CFMDB deletion exon 1 CFMDB_1896 c.1343T>G CFMDB substitution exon 1 CFMDB_1797 c.1353_1354insT CFMDB insertion exon 1 CFMDB_841 c.1355A>C CFMDB substitution exon 1 CFMDB_221 c.1359_1361delGTT CFMDB deletion exon 1 CFMDB_222 c.1364C>A CFMDB substitution exon 1 CFMDB_1266 c.1365_1366delGG CFMDB deletion exon 1 CFMDB_223 c.1366G>T CFMDB substitution exon 1 CFMDB_1184 c.1367T>C CFMDB substitution exon 1 CFMDB_224 c.1373delG CFMDB deletion exon 1 CFMDB_225 c.1373G>T CFMDB substitution exon 1 CFMDB_1739 c.1388G>T CFMDB substitution exon 1 CFMDB_1851 c.1388G>T CFMDB substitution exon 1 CFMDB_226 c.1392+6_1392+7insA CFMDB insertion intron 1 CFMDB_1373 c.1392G>T CFMDB substitution exon 1 CFMDB_1565 c.1392+68G>A CFMDB substitution intron 1 CFMDB_1211 c.1392+1G>A CFMDB substitution intron 1 CFMDB_1704 c.1392+4g>T CFMDB substitution intron 1 CFMDB_1566 c.1392+60_1392+61insA CFMDB insertion intron 1 CFMDB_227 c.1393-1G>A CFMDB substitution intron 1 CFMDB_830 c.1393-18G>A CFMDB substitution intron 1 CFMDB_920 c.1393-61A>G CFMDB substitution intron 1 CFMDB_1656 c.1393-47T>G CFMDB substitution intron 1 CFMDB_1510 c.1393-42G>A CFMDB substitution intron 1 CFMDB_921 c.1393-60G>A CFMDB substitution intron 1 CFMDB_1304 c.1393-2A>G CFMDB substitution intron 1 CFMDB_229 c.1397C>G CFMDB substitution exon 1 CFMDB_228 c.1397C>T CFMDB substitution exon 1 CFMDB_230 c.1397C>A CFMDB substitution exon 1 CFMDB_751 c.1399C>T CFMDB substitution exon 1 CFMDB_1682 c.1403T>C CFMDB substitution exon 1 CFMDB_1349 c.1405A>G CFMDB substitution exon 1 CFMDB_1019 c.1408A>G CFMDB substitution exon 1 CFMDB_978 c.1408_1417delATGATTATGG CFMDB deletion exon 1 CFMDB_1968 c.1411A>G CFMDB substitution exon 1 CFMDB_692 c.1418delG CFMDB deletion exon 1 CFMDB_1189 c.1420G>A CFMDB substitution exon 1 CFMDB_1785 c.1429C>T CFMDB substitution exon 1 CFMDB_1574 c.1433_1434delCA CFMDB deletion exon 1 CFMDB_1633 c.1435G>T CFMDB substitution exon 1 CFMDB_1983 c.1437G>C CFMDB substitution exon 1 CFMDB_231 c.1438G>T CFMDB substitution exon 1 CFMDB_1210 c.1438G>A CFMDB substitution exon 1 CFMDB_232 c.1439G>A CFMDB substitution exon 1 CFMDB_233 c.1439delG CFMDB deletion exon 1 CFMDB_1020 c.1440T>C CFMDB substitution exon 1 CFMDB_1164 c.1444_1445insT CFMDB insertion exon 1 CFMDB_723 c.1450C>T CFMDB substitution exon 1 CFMDB_966 c.1451A>G CFMDB substitution exon 1 CFMDB_1047 c.1453A>T CFMDB substitution exon 1 CFMDB_1871 c.1454G>C CFMDB substitution exon 1 CFMDB_234 c.1456G>T CFMDB substitution exon 1 CFMDB_235 c.1466C>A CFMDB substitution exon 1 CFMDB_660 c.1469_1470delTC CFMDB deletion exon 1 CFMDB_1926 c.1469delT CFMDB deletion exon 1 CFMDB_722 c.1471T>C CFMDB substitution exon 1 CFMDB_1909 c.1472G>C CFMDB substitution exon 1 CFMDB_2006 c.1472G>T CFMDB substitution exon 1 CFMDB_236 c.1475C>T CFMDB substitution exon 1 CFMDB_238 c.1477_1478delCA CFMDB deletion exon 1 CFMDB_237 c.1477C>T CFMDB substitution exon 1 CFMDB_1256 c.1478A>C CFMDB substitution exon 1 CFMDB_239 c.1478A>G CFMDB substitution exon 1 CFMDB_240 c.1482_1483delTT CFMDB deletion exon 1 CFMDB_1912 c.1484C>A CFMDB substitution exon 1 CFMDB_241 c.1487G>A CFMDB substitution exon 1 CFMDB_1326 c.1489A>G CFMDB substitution exon 1 CFMDB_1486 c.1494G>C CFMDB substitution exon 1 CFMDB_661 c.1495C>G CFMDB substitution exon 1 CFMDB_982 c.1501A>G CFMDB substitution exon 1 CFMDB_726 c.1505T>C CFMDB substitution exon 1 CFMDB_1223 c.1505T>A CFMDB substitution exon 1 CFMDB_724 c.1510G>T CFMDB substitution exon 1 CFMDB_242 c.1510G>C CFMDB substitution exon 1 CFMDB_245 c.1519_1521delATC CFMDB deletion exon 1 CFMDB_1021 c.1516A>G CFMDB substitution exon 1 CFMDB_851 c.1516A>C CFMDB substitution exon 1 CFMDB_243 c.1517T>G CFMDB substitution exon 1 CFMDB_244 c.1517T>C CFMDB substitution exon 1 CFMDB_869 c.1518C>G CFMDB substitution exon 1 CFMDB_1023 c.1519A>G CFMDB substitution exon 1 CFMDB_1919 c.1521C>G CFMDB substitution exon 1 CFMDB_246 c.1521_1523delCTT CFMDB deletion exon 1 CFMDB_1024 c.1523T>G CFMDB substitution exon 1 CFMDB_1138 c.1523T>C CFMDB substitution exon 1 CFMDB_1610 c.1528delG CFMDB deletion exon 1 CFMDB_1888 c.1532C>G CFMDB substitution exon 1 CFMDB_818 c.1538A>G CFMDB substitution exon 1 CFMDB_1258 c.1543T>C CFMDB substitution exon 1 CFMDB_247 c.1545_1546delTA CFMDB deletion exon 1 CFMDB_1268 c.1546A>G CFMDB substitution exon 1 CFMDB_760 c.1550A>G CFMDB substitution exon 1 CFMDB_1226 c.1555A>G CFMDB substitution exon 1 CFMDB_249 c.1558G>A CFMDB substitution exon 1 CFMDB_248 c.1558G>T CFMDB substitution exon 1 CFMDB_1206 c.1561A>C CFMDB substitution exon 1 CFMDB_1907 c.1561A>T CFMDB substitution exon 1 CFMDB_1810 c.1567G>T CFMDB substitution exon 1 CFMDB_250 c.1572C>A CFMDB substitution exon 1 CFMDB_251 c.1573C>T CFMDB substitution exon 1 CFMDB_252 c.1574_1590delAACTAGAAGAGGACATC CFMDB deletion exon 1 CFMDB_817 c.1579G>C CFMDB substitution exon 1 CFMDB_964 c.1580A>G CFMDB substitution exon 1 CFMDB_1025 c.1581A>G CFMDB substitution exon 1 CFMDB_1653 c.1582G>A CFMDB substitution exon 1 CFMDB_662 c.1584+2T>C CFMDB substitution intron 1 CFMDB_922 c.1584+12T>C CFMDB substitution intron 1 CFMDB_748 c.1584+63A>C CFMDB substitution intron 1 CFMDB_598 c.1584+84C>T CFMDB substitution intron 1 CFMDB_1026 c.1584G>A CFMDB substitution exon 1 CFMDB_1190 c.1584G>T CFMDB substitution exon 1 CFMDB_923 c.1584+13G>T CFMDB substitution intron 1 CFMDB_613 c.1584+77A>G CFMDB substitution intron 1 CFMDB_1590 c.1584+1G>T CFMDB substitution intron 1 CFMDB_1591 c.1584+4A>T CFMDB substitution intron 1 CFMDB_641 c.1584+1G>A CFMDB substitution intron 1 CFMDB_924 c.1584+51_1584_61dup11 CFMDB duplication intron 1 CFMDB_896 c.1584+63_1584+64ins11 CFMDB insertion intron 1 CFMDB_925 c.1585-19T>C CFMDB substitution intron 1 CFMDB_1139 c.1585G>C CFMDB substitution exon 1 CFMDB_255 c.1585-1G>A CFMDB substitution intron 1 CFMDB_253 c.1585-8G>A CFMDB substitution intron 1 CFMDB_254 c.1585-2A>G CFMDB substitution intron 1 CFMDB_663 c.1585-3T>G CFMDB substitution intron 1 CFMDB_1022 c.1585-9T>A CFMDB substitution intron 1 CFMDB_1642 c.1586A>G CFMDB substitution exon 1 CFMDB_1724 c.1588A>C CFMDB substitution exon 1 CFMDB_1993 c.1597T>C CFMDB substitution exon 1 CFMDB_2007 c.1597T>G CFMDB substitution exon 1 CFMDB_256 c.1601C>A CFMDB substitution exon 1 CFMDB_1497 c.1606A>T CFMDB substitution exon 1 CFMDB_1861 c.1606A>G CFMDB substitution exon 1 CFMDB_831 c.1610_1611delAC CFMDB deletion exon 1 CFMDB_1291 c.1611C>A CFMDB substitution exon 1 CFMDB_257 c.1616T>C CFMDB substitution exon 1 CFMDB_1128 c.1617_1618insTA CFMDB insertion exon 1 CFMDB_1880 c.1622T>C CFMDB substitution exon 1 CFMDB_258 c.1624G>T CFMDB substitution exon 1 CFMDB_1852 c.1625G>A CFMDB substitution exon 1 CFMDB_259 c.1630G>A CFMDB substitution exon 1 CFMDB_603 c.1631G>T CFMDB substitution exon 1 CFMDB_1150 c.1632T>G CFMDB substitution exon 1 CFMDB_1284 c.1635_1640del CFMDB deletion exon 1 CFMDB_1027 c.1641A>T CFMDB substitution exon 1 CFMDB_260 c.1642_1643delCT CFMDB deletion exon 1 CFMDB_1375 c.1643T>A CFMDB substitution exon 1 CFMDB_261 c.1645A>C CFMDB substitution exon 1 CFMDB_1780 c.1645_1648delAGTG CFMDB deletion exon 1 CFMDB_262 c.1646G>A CFMDB substitution exon 1 CFMDB_263 c.1646G>T CFMDB substitution exon 1 CFMDB_264 c.1647T>G CFMDB substitution exon 1 CFMDB_265 c.1648G>A CFMDB substitution exon 1 CFMDB_266 c.1648G>T CFMDB substitution exon 1 CFMDB_267 c.1650delA CFMDB deletion exon 1 CFMDB_268 c.1651G>A CFMDB substitution exon 1 CFMDB_269 c.1652G>A CFMDB substitution exon 1 CFMDB_270 c.1652delG CFMDB deletion exon 1 CFMDB_596 c.1654C>A CFMDB substitution exon 1 CFMDB_271 c.1654C>T CFMDB substitution exon 1 CFMDB_1043 c.1656delA CFMDB deletion exon 1 CFMDB_272 c.1657C>G CFMDB substitution exon 1 CFMDB_273 c.1657C>T CFMDB substitution exon 1 CFMDB_274 c.1658G>A CFMDB substitution exon 1 CFMDB_1726 c.1660_1661insA CFMDB insertion exon 1 CFMDB_991 c.1663A>G CFMDB substitution exon 1 CFMDB_275 c.1666A>G CFMDB substitution exon 1 CFMDB_664 c.1670delC CFMDB deletion exon 1 CFMDB_1829 c.1679+1643G>T CFMDB substitution intron 1 CFMDB_276 c.1673T>C CFMDB substitution exon 1 CFMDB_277 c.1674delA CFMDB deletion exon 1 CFMDB_278 c.1675G>A CFMDB substitution exon 1 CFMDB_1191 c.1676C>A CFMDB substitution exon 1 CFMDB_1592 c.1676C>T CFMDB substitution exon 1 CFMDB_1274 c.1678A>G CFMDB substitution exon 1 CFMDB_281 c.1679+1G>C CFMDB substitution intron 1 CFMDB_1519 c.1679+16T>C CFMDB substitution intron 1 CFMDB_280 c.1679G>C CFMDB substitution exon 1 CFMDB_279 c.1679G>A CFMDB substitution exon 1 CFMDB_282 c.1679+18G>A CFMDB substitution intron 1 CFMDB_1505 c.1679+1G>A CFMDB substitution intron 1 CFMDB_1660 c.1679+24G>A CFMDB substitution intron 1 CFMDB_1388 c.1679+34G>A CFMDB substitution intron 1 CFMDB_1532 c.1679+1650T>A CFMDB substitution intron 1 CFMDB_1608 c.1679+5A>G CFMDB substitution intron 1 CFMDB_1287 c.1679+11A>G CFMDB substitution intron 1 CFMDB_1708 c.1679+24g>A CFMDB substitution intron 1 CFMDB_1892 c.1679+2t>C CFMDB substitution intron 1 CFMDB_1935 c.1679+9c>G CFMDB substitution intron 1 CFMDB_1947 c.1679+64c>T CFMDB substitution intron 1 CFMDB_1948 c.1679+143c>T CFMDB substitution intron 1 CFMDB_639 c.1680-136A>G CFMDB substitution intron 1 CFMDB_926 c.1680-108T>C CFMDB substitution intron 1 CFMDB_1646 c.1680-99T>C CFMDB substitution intron 1 CFMDB_1363 c.1680-26T>C CFMDB substitution intron 1 CFMDB_284 c.1680-1G>A CFMDB substitution intron 1 CFMDB_1575 c.1680-5T>A CFMDB substitution intron 1 CFMDB_1088 c.1680-59T>G CFMDB substitution intron 1 CFMDB_285 c.1680A>C CFMDB substitution exon 1 CFMDB_1927 c.1680-2a>G CFMDB substitution intron 1 CFMDB_2002 c.1680-27g>A CFMDB substitution intron 1 CFMDB_730 c.1681_1682insC CFMDB insertion exon 1 CFMDB_286 c.1682C>A CFMDB substitution exon 1 CFMDB_288 c.1684G>C CFMDB substitution exon 1 CFMDB_287 c.1684G>A CFMDB substitution exon 1 CFMDB_289 c.1687T>G CFMDB substitution exon 1 CFMDB_290 c.1687T>A CFMDB substitution exon 1 CFMDB_1933 c.1687T>C CFMDB substitution exon 1 CFMDB_291 c.1688A>G CFMDB substitution exon 1 CFMDB_1813 c.1690A>G CFMDB substitution exon 1 CFMDB_1831 c.1692delA CFMDB deletion exon 1 CFMDB_1267 c.1694A>G CFMDB substitution exon 1 CFMDB_1338 c.1696G>A CFMDB substitution exon 1 CFMDB_1899 c.1700A>G CFMDB substitution exon 1 CFMDB_292 c.1703delT CFMDB deletion exon 1 CFMDB_293 c.1703T>A CFMDB substitution exon 1 CFMDB_627 c.1704G>T CFMDB substitution exon 1 CFMDB_295 c.1705T>C CFMDB substitution exon 1 CFMDB_294 c.1705T>G CFMDB substitution exon 1 CFMDB_296 c.1706A>G CFMDB substitution exon 1 CFMDB_297 c.1707T>A CFMDB substitution exon 1 CFMDB_298 c.1712T>C CFMDB substitution exon 1 CFMDB_1096 c.1713_1714delAG CFMDB deletion exon 1 CFMDB_299 c.1714G>A CFMDB substitution exon 1 CFMDB_1721 c.1714G>C CFMDB substitution exon 1 CFMDB_1499 c.1718C>G CFMDB substitution exon 1 CFMDB_1492 c.1720C>T CFMDB substitution exon 1 CFMDB_300 c.1721C>A CFMDB substitution exon 1 CFMDB_301 c.1726G>T CFMDB substitution exon 1 CFMDB_590 c.1727G>C CFMDB substitution exon 1 CFMDB_302 c.1730A>T CFMDB substitution exon 1 CFMDB_755 c.1731C>T CFMDB substitution exon 1 CFMDB_1804 c.1731C>A CFMDB substitution exon 1 CFMDB_303 c.1735G>T CFMDB substitution exon 1 CFMDB_304 c.1736A>G CFMDB substitution exon 1 CFMDB_210 c.1736A>C CFMDB substitution exon 1 CFMDB_1175 c.1738delG CFMDB deletion exon 1 CFMDB_305 c.1739_1740insT CFMDB insertion exon 1 CFMDB_1292 c.1744A>T CFMDB substitution exon 1 CFMDB_306 c.1745C>T CFMDB substitution exon 1 CFMDB_307 c.1745C>G CFMDB substitution exon 1 CFMDB_308 c.1753G>T CFMDB substitution exon 1 CFMDB_1578 c.1756A>G CFMDB substitution exon 1 CFMDB_1394 c.1759T>A CFMDB substitution exon 1 CFMDB_1471 c.1763A>T CFMDB substitution exon 1 CFMDB_311 c.1766+1G>C CFMDB substitution intron 1 CFMDB_312 c.1766+3A>C CFMDB substitution intron 1 CFMDB_740 c.1766+5G>A CFMDB substitution intron 1 CFMDB_665 c.1766G>A CFMDB substitution exon 1 CFMDB_1059 c.1766G>T CFMDB substitution exon 1 CFMDB_927 c.1766+152T>A CFMDB substitution intron 1 CFMDB_309 c.1766+1G>A CFMDB substitution intron 1 CFMDB_310 c.1766+1G>T CFMDB substitution intron 1 CFMDB_1046 c.1766+30G>A CFMDB substitution intron 1 CFMDB_313 c.1766+3A>G CFMDB substitution intron 1 CFMDB_314 c.1766+5G>T CFMDB substitution intron 1 CFMDB_315 c.1766+73T>G CFMDB substitution intron 1 CFMDB_1761 c.1766+2t>C CFMDB substitution intron 1 CFMDB_2012 c.53+642c>A CFMDB substitution intron 1 CFMDB_1643 c.1781T>C CFMDB substitution exon 1 CFMDB_1905 c.1783A>G CFMDB substitution exon 1 CFMDB_1493 c.1784T>C CFMDB substitution exon 1 CFMDB_1632 c.1785G>A CFMDB substitution exon 1 CFMDB_316 c.1786_1787delGC CFMDB deletion exon 1 CFMDB_1618 c.1792A>T CFMDB substitution exon 1 CFMDB_317 c.1792_1798delAAAACTA CFMDB deletion exon 1 CFMDB_1151 c.1797T>A CFMDB substitution exon 1 CFMDB_753 c.1798A>G CFMDB substitution exon 1 CFMDB_1593 c.1800delG CFMDB deletion exon 1 CFMDB_666 c.1801A>T CFMDB substitution exon 1 CFMDB_1949 c.1801A>G CFMDB substitution exon 1 CFMDB_852 c.1807G>T CFMDB substitution exon 1 CFMDB_1192 c.1811C>T CFMDB substitution exon 1 CFMDB_1502 c.1811C>G CFMDB substitution exon 1 CFMDB_1985 c.53+687c>G CFMDB substitution intron 1 CFMDB_1830 c.1680-13A>G CFMDB substitution intron 1 CFMDB_1257 c.1823A>G CFMDB substitution exon 1 CFMDB_1536 c.1826A>T CFMDB substitution exon 1 CFMDB_754 c.1826A>G CFMDB substitution exon 1 CFMDB_319 c.1829T>C CFMDB substitution exon 1 CFMDB_667 c.1837G>A CFMDB substitution exon 1 CFMDB_1193 c.1840G>T CFMDB substitution exon 1 CFMDB_320 c.1841A>G CFMDB substitution exon 1 CFMDB_321 c.1853T>C CFMDB substitution exon 1 CFMDB_322 c.1856T>C CFMDB substitution exon 1 CFMDB_323 c.1859A>C CFMDB substitution exon 1 CFMDB_668 c.1860T>G CFMDB substitution exon 1 CFMDB_669 c.1865G>A CFMDB substitution exon 1 CFMDB_1689 c.1871_1878delGCTATTTT CFMDB deletion exon 1 CFMDB_325 c.1882G>C CFMDB substitution exon 1 CFMDB_324 c.1882G>A CFMDB substitution exon 1 CFMDB_1520 c.1897C>A CFMDB substitution exon 1 CFMDB_326 c.1898T>C CFMDB substitution exon 1 CFMDB_637 c.1900C>T CFMDB substitution exon 1 CFMDB_962 c.1907T>C CFMDB substitution exon 1 CFMDB_1044 c.1909C>T CFMDB substitution exon 1 CFMDB_327 c.1911delG CFMDB deletion exon 1 CFMDB_1270 c.1915G>T CFMDB substitution exon 1 CFMDB_969 c.1919_1920delTT CFMDB deletion exon 1 CFMDB_1737 c.1920T>C CFMDB substitution exon 1 CFMDB_1889 c.1920_1921dupTA CFMDB duplication exon 1 CFMDB_328 c.1923_1931del9insA CFMDB complex exon 1 CFMDB_824 c.1932C>G CFMDB substitution exon 1 CFMDB_981 c.1950C>T CFMDB substitution exon 1 CFMDB_1259 c.1951G>C CFMDB substitution exon 1 CFMDB_961 c.1951G>A CFMDB substitution exon 1 CFMDB_1030 c.1960A>G CFMDB substitution exon 1 CFMDB_761 c.1966G>T CFMDB substitution exon 1 CFMDB_1194 c.1972_1973insA CFMDB insertion exon 1 CFMDB_1283 c.1973_1985del13insAGAAA CFMDB complex exon 1 CFMDB_1056 c.1976delA CFMDB deletion exon 1 CFMDB_1544 c.1978T>A CFMDB substitution exon 1 CFMDB_330 c.1981delA CFMDB deletion exon 1 CFMDB_1093 c.1984_1987delCTAA CFMDB deletion exon 1 CFMDB_331 c.1986_1989delAACT CFMDB deletion exon 1 CFMDB_332 c.1990G>T CFMDB substitution exon 1 CFMDB_333 c.1993A>T CFMDB substitution exon 1 CFMDB_764 c.2002C>T CFMDB substitution exon 1 CFMDB_334 c.2009_2010insA CFMDB insertion exon 1 CFMDB_335 c.2012delT CFMDB deletion exon 1 CFMDB_714 c.2013_2015delAGA CFMDB deletion exon 1 CFMDB_336 c.2017G>T CFMDB substitution exon 1 CFMDB_1534 c.2021A>T CFMDB substitution exon 1 CFMDB_1066 c.2036G>A CFMDB substitution exon 1 CFMDB_337 c.2044_2045insC CFMDB insertion exon 1 CFMDB_1718 c.2044delA CFMDB deletion exon 1 CFMDB_1102 c.2048A>G CFMDB substitution exon 1 CFMDB_758 c.2051_2052delAA CFMDB deletion exon 1 CFMDB_338 c.2051_2052delAAinsG CFMDB complex exon 1 CFMDB_1437 c.2052A>G CFMDB substitution exon 1 CFMDB_340 c.2052_2053insA CFMDB insertion exon 1 CFMDB_339 c.2052delA CFMDB deletion exon 1 CFMDB_1060 c.2053_2054insC CFMDB insertion exon 1 CFMDB_341 c.2053C>T CFMDB substitution exon 1 CFMDB_1526 c.2057C>A CFMDB substitution exon 1 CFMDB_1396 c.2061_2062insTTTT CFMDB insertion exon 1 CFMDB_1609 c.2062A>T CFMDB substitution exon 1 CFMDB_1339 c.2065C>T CFMDB substitution exon 1 CFMDB_342 c.2074G>T CFMDB substitution exon 1 CFMDB_343 c.2077T>C CFMDB substitution exon 1 CFMDB_1209 c.2079T>G CFMDB substitution exon 1 CFMDB_1180 c.2083_2084insG CFMDB insertion exon 1 CFMDB_1733 c.2087A>G CFMDB substitution exon 1 CFMDB_1594 c.2089_2090insA CFMDB insertion exon 1 CFMDB_766 c.2106C>G CFMDB substitution exon 1 CFMDB_344 c.2125C>T CFMDB substitution exon 1 CFMDB_1285 c.2126G>A CFMDB substitution exon 1 CFMDB_345 c.2128A>T CFMDB substitution exon 1 CFMDB_1305 c.2135C>G CFMDB substitution exon 1 CFMDB_1661 c.2143C>T CFMDB substitution exon 1 CFMDB_346 c.2145_2146delAAinsGT CFMDB complex exon 1 CFMDB_347 c.2156T>A CFMDB substitution exon 1 CFMDB_1333 c.2157_2163delinsGT CFMDB complex exon 1 CFMDB_1048 c.2158C>T CFMDB substitution exon 1 CFMDB_1306 c.2168G>T CFMDB substitution exon 1 CFMDB_799 c.2173G>A CFMDB substitution exon 1 CFMDB_348 c.2175_2176insA CFMDB insertion exon 1 CFMDB_349 c.2188G>T CFMDB substitution exon 1 CFMDB_350 c.2195T>G CFMDB substitution exon 1 CFMDB_1153 c.2203delA CFMDB deletion exon 1 CFMDB_1222 c.2204G>A CFMDB substitution exon 1 CFMDB_1391 c.2210C>T CFMDB substitution exon 1 CFMDB_1393 c.2210C>T CFMDB substitution exon 1 CFMDB_351 c.2215delG CFMDB deletion exon 1 CFMDB_1461 c.2233G>T CFMDB substitution exon 1 CFMDB_352 c.2240_2247delCGATACTG CFMDB deletion exon 1 CFMDB_715 c.2245C>T CFMDB substitution exon 1 CFMDB_1648 c.2248_2255del CFMDB deletion exon 1 CFMDB_1103 c.2249C>T CFMDB substitution exon 1 CFMDB_1870 c.2251C>T CFMDB substitution exon 1 CFMDB_1307 c.2252G>C CFMDB substitution exon 1 CFMDB_1987 c.2252G>T CFMDB substitution exon 1 CFMDB_1425 c.2255T>G CFMDB substitution exon 1 CFMDB_1649 c.2259C>T CFMDB substitution exon 1 CFMDB_1657 c.2259C>G CFMDB substitution exon 1 CFMDB_1755 c.2259C>G CFMDB substitution exon 1 CFMDB_610 c.2260G>A CFMDB substitution exon 1 CFMDB_1621 c.2276_2277delCC CFMDB deletion exon 1 CFMDB_1691 c.2277delC CFMDB deletion exon 1 CFMDB_1049 c.2279C>T CFMDB substitution exon 1 CFMDB_1617 c.2280G>A CFMDB substitution exon 1 CFMDB_1390 c.2286G>T CFMDB substitution exon 1 CFMDB_353 c.2290C>T CFMDB substitution exon 1 CFMDB_354 c.2291delG CFMDB deletion exon 1 CFMDB_1736 c.2295G>T CFMDB substitution exon 1 CFMDB_355 c.2297G>T CFMDB substitution exon 1 CFMDB_1207 c.2324_2325delAC CFMDB deletion exon 1 CFMDB_757 c.2327C>G CFMDB substitution exon 1 CFMDB_745 c.2341C>T CFMDB substitution exon 1 CFMDB_1195 c.2346C>A CFMDB substitution exon 1 CFMDB_356 c.2353C>T CFMDB substitution exon 1 CFMDB_1208 c.2361_2362ins8 CFMDB insertion exon 1 CFMDB_1581 c.2363C>T CFMDB substitution exon 1 CFMDB_358 c.2374C>G CFMDB substitution exon 1 CFMDB_357 c.2374C>T CFMDB substitution exon 1 CFMDB_1697 c.2380delG CFMDB deletion exon 1 CFMDB_359 c.2390_2391insC CFMDB insertion exon 1 CFMDB_1868 c.2392C>T CFMDB substitution exon 1 CFMDB_360 c.2399C>G CFMDB substitution exon 1 CFMDB_1585 c.2417A>G CFMDB substitution exon 1 CFMDB_1579 c.2419A>G CFMDB substitution exon 1 CFMDB_866 c.2421A>G CFMDB substitution exon 1 CFMDB_767 c.2421A>G CFMDB substitution exon 1 CFMDB_361 c.2424_2425insAT CFMDB insertion exon 1 CFMDB_1221 c.2428A>G CFMDB substitution exon 1 CFMDB_1742 c.2433_2437delinsATA CFMDB complex exon 1 CFMDB_362 c.2434_2435insT CFMDB insertion exon 1 CFMDB_1265 c.2437T>C CFMDB substitution exon 1 CFMDB_1670 c.2440C>T CFMDB substitution exon 1 CFMDB_1908 c.2450G>T CFMDB substitution exon 1 CFMDB_1504 c.2453delT CFMDB deletion exon 1 CFMDB_1791 c.2462_2463delGT CFMDB deletion exon 1 CFMDB_363 c.2464G>A CFMDB substitution exon 1 CFMDB_364 c.2464G>T CFMDB substitution exon 1 CFMDB_800 c.2467G>T CFMDB substitution exon 1 CFMDB_365 c.2472delT CFMDB deletion exon 1 CFMDB_366 c.2476G>A CFMDB substitution exon 1 CFMDB_367 c.2479G>T CFMDB substitution exon 1 CFMDB_1308 c.2483A>G CFMDB substitution exon 1 CFMDB_1152 c.2487A>G CFMDB substitution exon 1 CFMDB_368 c.2488A>T CFMDB substitution exon 1 CFMDB_1426 c.2490+2T>C CFMDB substitution intron 1 CFMDB_849 c.2490+2_2490+7delTAGGTA CFMDB deletion intron 1 CFMDB_369 c.2490+1G>A CFMDB substitution intron 1 CFMDB_1196 c.2490+1G>T CFMDB substitution intron 1 CFMDB_811 c.2490+14G>A CFMDB substitution intron 1 CFMDB_1994 c.2490+3a>G CFMDB substitution intron 1 CFMDB_1595 c.2491-11C>T CFMDB substitution intron 1 CFMDB_1309 c.2491-2A>G CFMDB substitution intron 1 CFMDB_370 c.2491G>T CFMDB substitution exon 1 CFMDB_1612 c.2491-23A>G CFMDB substitution intron 1 CFMDB_1891 c.2491-190g>A CFMDB substitution intron 1 CFMDB_1918 c.2491-88c>T CFMDB substitution intron 1 CFMDB_1951 c.2491-92t>G CFMDB substitution intron 1 CFMDB_1950 c.2491-98t>C CFMDB substitution intron 1 CFMDB_837 c.2502_2503insT CFMDB insertion exon 1 CFMDB_1775 c.2502T>G CFMDB substitution exon 1 CFMDB_1637 c.2502delT CFMDB deletion exon 1 CFMDB_371 c.2506G>T CFMDB substitution exon 1 CFMDB_879 c.2508delT CFMDB deletion exon 1 CFMDB_1541 c.2519T>C CFMDB substitution exon 1 CFMDB_1253 c.2522C>G CFMDB substitution exon 1 CFMDB_372 c.2537G>A CFMDB substitution exon 1 CFMDB_373 c.2538G>A CFMDB substitution exon 1 CFMDB_1057 c.2547C>A CFMDB substitution exon 1 CFMDB_374 c.2551C>T CFMDB substitution exon 1 CFMDB_670 c.2552G>T CFMDB substitution exon 1 CFMDB_1696 c.2556T>G CFMDB substitution exon 1 CFMDB_768 c.2559T>C CFMDB substitution exon 1 CFMDB_1114 c.2562T>C CFMDB substitution exon 1 CFMDB_769 c.2562T>G CFMDB substitution exon 1 CFMDB_1181 c.2562delT CFMDB deletion exon 1 CFMDB_954 c.2563G>A CFMDB substitution exon 1 CFMDB_1798 c.2566_2567insT CFMDB insertion exon 1 CFMDB_759 c.2571G>A CFMDB substitution exon 1 CFMDB_375 c.2583delT CFMDB deletion exon 1 CFMDB_1857 c.2579T>C CFMDB substitution exon 1 CFMDB_376 c.2589_2599delAATTTGGTGCT CFMDB deletion exon 1 CFMDB_701 c.2591_2592delTT CFMDB deletion exon 1 CFMDB_1436 c.2596T>G CFMDB substitution exon 1 CFMDB_1444 c.2596T>A CFMDB substitution exon 1 CFMDB_377 c.2597G>A CFMDB substitution exon 1 CFMDB_705 c.2600T>A CFMDB substitution exon 1 CFMDB_1081 c.2600_2601insA CFMDB insertion exon 1 CFMDB_378 c.2602delG CFMDB deletion exon 1 CFMDB_770 c.2604A>G CFMDB substitution exon 1 CFMDB_1596 c.2615delC CFMDB deletion exon 1 CFMDB_379 c.2619G>A CFMDB substitution exon 1 CFMDB_380 c.2619+3A>G CFMDB substitution intron 1 CFMDB_990 c.2619+18_2619+23del CFMDB deletion intron 1 CFMDB_671 c.2619+2T>A CFMDB substitution intron 1 CFMDB_1310 c.2620-97C>T CFMDB substitution intron 1 CFMDB_929 c.2620-15C>G CFMDB substitution intron 1 CFMDB_1311 c.2620-6T>C CFMDB substitution intron 1 CFMDB_1017 c.2620-1G>C CFMDB substitution intron 1 CFMDB_1358 c.2620-17G>A CFMDB substitution intron 1 CFMDB_381 c.2620-26A>G CFMDB substitution intron 1 CFMDB_382 c.2620-1G>T CFMDB substitution intron 1 CFMDB_1677 c.2620-2A>G CFMDB substitution intron 1 CFMDB_928 c.2620-22A>G CFMDB substitution intron 1 CFMDB_1709 c.2620-17g>T CFMDB substitution intron 1 CFMDB_1832 c.2620-25dupA CFMDB duplication intron 1 CFMDB_1885 c.2620-18delT CFMDB deletion intron 1 CFMDB_1952 c.2620-82g>A CFMDB substitution intron 1 CFMDB_1996 c.2620-24c>G CFMDB substitution intron 1 CFMDB_1872 c.2629_2631delTCT CFMDB deletion exon 1 CFMDB_383 c.2634_2641delGGTTGTGC CFMDB deletion exon 1 CFMDB_385 c.2645G>A CFMDB substitution exon 1 CFMDB_1478 c.2655_2670delAAACACTCCTCTTCAA CFMDB deletion intron 1 CFMDB_930 c.2657+32T>C CFMDB substitution intron 1 CFMDB_835 c.2657+2_2657+3insA CFMDB insertion intron 1 CFMDB_386 c.2657+3delG CFMDB deletion intron 1 CFMDB_387 c.2657+5G>A CFMDB substitution intron 1 CFMDB_931 c.2658-107G>C CFMDB substitution intron 1 CFMDB_389 c.2658-1G>C CFMDB substitution intron 1 CFMDB_390 c.2658-1G>T CFMDB substitution intron 1 CFMDB_932 c.2658-21G>A CFMDB substitution intron 1 CFMDB_388 c.2658-2A>G CFMDB substitution intron 1 CFMDB_391 c.2668C>T CFMDB substitution exon 1 CFMDB_973 c.2669A>G CFMDB substitution exon 1 CFMDB_886 c.2672A>G CFMDB substitution exon 1 CFMDB_1620 c.2679G>T CFMDB substitution exon 1 CFMDB_1154 c.2684G>C CFMDB substitution exon 1 CFMDB_1799 c.2686_2687insT CFMDB insertion exon 1 CFMDB_1168 c.2687C>T CFMDB substitution exon 1 CFMDB_1392 c.2687_2690delCTCAinsTGAGTACTATGAG CFMDB complex exon 1 CFMDB_1155 c.2699A>C CFMDB substitution exon 1 CFMDB_1970 c.2705delG CFMDB deletion exon 1 CFMDB_1227 c.2706C>G CFMDB substitution exon 1 CFMDB_771 c.2707T>C CFMDB substitution exon 1 CFMDB_976 c.2712A>T CFMDB substitution exon 1 CFMDB_1095 c.2719A>G CFMDB substitution exon 1 CFMDB_706 c.2723C>A CFMDB substitution exon 1 CFMDB_842 c.2724C>T CFMDB substitution exon 1 CFMDB_772 c.2726G>T CFMDB substitution exon 1 CFMDB_1293 c.2731A>C CFMDB substitution exon 1 CFMDB_392 c.2735C>T CFMDB substitution exon 1 CFMDB_393 c.2735C>A CFMDB substitution exon 1 CFMDB_1564 c.2736G>A CFMDB substitution exon 1 CFMDB_394 c.2737_2738insG CFMDB insertion exon 1 CFMDB_395 c.2738A>G CFMDB substitution exon 1 CFMDB_1500 c.2739T>A CFMDB substitution exon 1 CFMDB_1686 c.2741A>G CFMDB substitution exon 1 CFMDB_1772 c.2743G>C CFMDB substitution exon 1 CFMDB_615 c.2749T>G CFMDB substitution exon 1 CFMDB_396 c.2750A>G CFMDB substitution exon 1 CFMDB_1197 c.2754T>G CFMDB substitution exon 1 CFMDB_397 c.2756A>G CFMDB substitution exon 1 CFMDB_398 c.2758G>A CFMDB substitution exon 1 CFMDB_1198 c.2758G>T CFMDB substitution exon 1 CFMDB_1853 c.2762G>A CFMDB substitution exon 1 CFMDB_1360 c.2764G>C CFMDB substitution exon 1 CFMDB_713 c.2764_2765insAG CFMDB insertion exon 1 CFMDB_773 c.2769C>T CFMDB substitution exon 1 CFMDB_1199 c.2770G>A CFMDB substitution exon 1 CFMDB_1844 c.2770G>T CFMDB substitution exon 1 CFMDB_399 c.2775_2776delTT CFMDB deletion exon 1 CFMDB_400 c.2777delT CFMDB deletion exon 1 CFMDB_1902 c.2778G>T CFMDB substitution exon 1 CFMDB_401 c.2780T>C CFMDB substitution exon 1 CFMDB_1971 c.2789delG CFMDB deletion exon 1 CFMDB_1156 c.2795T>C CFMDB substitution exon 1 CFMDB_1340 c.2797A>G CFMDB substitution exon 1 CFMDB_619 c.2799A>T CFMDB substitution exon 1 CFMDB_1972 c.2803_2813delCTACCACTGGT CFMDB deletion exon 1 CFMDB_1929 c.2805_2810delinsTCAGA CFMDB complex exon 1 CFMDB_1881 c.2806C>A CFMDB substitution exon 1 CFMDB_1171 c.2808A>G CFMDB substitution exon 1 CFMDB_1067 c.2810_2811insT CFMDB insertion exon 1 CFMDB_1443 c.2812G>C CFMDB substitution exon 1 CFMDB_620 c.2813T>G CFMDB substitution exon 1 CFMDB_402 c.2815C>G CFMDB substitution exon 1 CFMDB_1018 c.2816_2817delATinsC CFMDB complex exon 1 CFMDB_707 c.2816A>G CFMDB substitution exon 1 CFMDB_1913 c.2820T>C CFMDB substitution exon 1 CFMDB_1833 c.2825delT CFMDB deletion exon 1 CFMDB_403 c.2834C>T CFMDB substitution exon 1 CFMDB_622 c.2835G>A CFMDB substitution exon 1 CFMDB_616 c.2836A>T CFMDB substitution exon 1 CFMDB_404 c.2845C>T CFMDB substitution exon 1 CFMDB_405 c.2846A>G CFMDB substitution exon 1 CFMDB_1489 c.2846A>T CFMDB substitution exon 1 CFMDB_1058 c.2855T>C CFMDB substitution exon 1 CFMDB_406 c.2856G>C CFMDB substitution exon 1 CFMDB_407 c.2859_2890delACATTCTGTTCTTCAAGCACCTATGTCAACCC CFMDB deletion exon 1 CFMDB_1767 c.2861A>C CFMDB substitution exon 1 CFMDB_408 c.2875delG CFMDB deletion exon 1 CFMDB_1345 c.2876C>T CFMDB substitution exon 1 CFMDB_1777 c.2876delC CFMDB deletion exon 1 CFMDB_1131 c.2883G>T CFMDB substitution exon 1 CFMDB_617 c.2896delA CFMDB deletion exon 1 CFMDB_774 c.2898G>A CFMDB substitution exon 1 CFMDB_809 c.2900T>C CFMDB substitution exon 1 CFMDB_643 c.2908+2T>C CFMDB substitution intron 1 CFMDB_1312 c.2908+23T>C CFMDB substitution intron 1 CFMDB_1635 c.2908+1085_3367+260del7201 CFMDB deletion intron 1 CFMDB_409 c.2908G>C CFMDB substitution exon 1 CFMDB_1619 c.2908G>A CFMDB substitution exon 1 CFMDB_1597 c.2908+11A>T CFMDB substitution intron 1 CFMDB_934 c.2909-71G>C CFMDB substitution intron 1 CFMDB_935 c.2909-50C>G CFMDB substitution intron 1 CFMDB_1219 c.2909-11_2909-5del CFMDB deletion intron 1 CFMDB_410 c.2909-1G>A CFMDB substitution intron 1 CFMDB_1220 c.2909-15T>G CFMDB substitution intron 1 CFMDB_1330 c.2909-4A>G CFMDB substitution intron 1 CFMDB_1563 c.2909-51T>G CFMDB substitution intron 1 CFMDB_933 c.2909-92G>A CFMDB substitution intron 1 CFMDB_734 c.2909G>A CFMDB substitution exon 1 CFMDB_411 c.2909delG CFMDB deletion exon 1 CFMDB_1953 c.2909-93c>T CFMDB substitution intron 1 CFMDB_1995 c.2909-10t>C CFMDB substitution intron 1 CFMDB_1998 c.2909-36t>C CFMDB substitution intron 1 CFMDB_672 c.2916_2917delTCinsAT CFMDB complex exon 1 CFMDB_1141 c.2918T>C CFMDB substitution exon 1 CFMDB_1445 c.2918T>A CFMDB substitution exon 1 CFMDB_412 c.2924_2925delGA CFMDB deletion exon 1 CFMDB_413 c.2929T>C CFMDB substitution exon 1 CFMDB_743 c.2930C>T CFMDB substitution exon 1 CFMDB_1906 c.2930C>G CFMDB substitution exon 1 CFMDB_1749 c.2932A>T CFMDB substitution exon 1 CFMDB_1862 c.2932A>T CFMDB substitution exon 1 CFMDB_674 c.2936A>T CFMDB substitution exon 1 CFMDB_673 c.2936A>C CFMDB substitution exon 1 CFMDB_414 c.2939T>A CFMDB substitution exon 1 CFMDB_1625 c.2940A>G CFMDB substitution exon 1 CFMDB_717 c.2947_2948delTT CFMDB deletion exon 1 CFMDB_880 c.2953G>C CFMDB substitution exon 1 CFMDB_415 c.2953G>T CFMDB substitution exon 1 CFMDB_1782 c.2963C>G CFMDB substitution exon 1 CFMDB_1756 c.2968A>T CFMDB substitution exon 1 CFMDB_416 c.2968_2969insA CFMDB insertion exon 1 CFMDB_1100 c.2971A>G CFMDB substitution exon 1 CFMDB_417 c.2977G>T CFMDB substitution exon 1 CFMDB_1634 c.2978A>G CFMDB substitution exon 1 CFMDB_797 c.2981T>G CFMDB substitution exon 1 CFMDB_418 c.2988G>A CFMDB substitution exon 1 CFMDB_1313 c.2988+198G>A CFMDB substitution intron 1 CFMDB_419 c.2988+1G>A CFMDB substitution intron 1 CFMDB_1172 c.2988+45A>G CFMDB substitution intron 1 CFMDB_1645 c.2988+35A>T CFMDB substitution intron 1 CFMDB_1752 c.2988+2t>C CFMDB substitution intron 1 CFMDB_1765 c.2988+33g>T CFMDB substitution intron 1 CFMDB_1344 c.2988+41delA CFMDB deletion intron 1 CFMDB_2001 c.2988+30t>C CFMDB substitution intron 1 CFMDB_2009 c.2988+47a>T CFMDB substitution intron 1 CFMDB_1668 c.2989-14C>A CFMDB substitution intron 1 CFMDB_1337 c.2989-3C>G CFMDB substitution intron 1 CFMDB_422 c.2989-1G>A CFMDB substitution intron 1 CFMDB_421 c.2989-2A>G CFMDB substitution intron 1 CFMDB_420 c.2989-2A>T CFMDB substitution intron 1 CFMDB_1710 c.2989-14c>A CFMDB substitution intron 1 CFMDB_1796 c.2989-92a>G CFMDB substitution intron 1 CFMDB_936 c.2989-93A[12_13] CFMDB complex intron 1 CFMDB_776 c.2991G>C CFMDB substitution exon 1 CFMDB_853 c.2994_2997delATTA CFMDB deletion exon 1 CFMDB_423 c.2997_3000delAATT CFMDB deletion exon 1 CFMDB_424 c.2998_3012del CFMDB deletion exon 1 CFMDB_1289 c.2998_3012del CFMDB deletion exon 1 CFMDB_1376 c.2998delA CFMDB deletion exon 1 CFMDB_425 c.3002_3003delTG CFMDB deletion exon 1 CFMDB_1964 c.3001G>A CFMDB substitution exon 1 CFMDB_1166 c.3007G>T CFMDB substitution exon 1 CFMDB_1676 c.3008G>A CFMDB substitution exon 1 CFMDB_1470 c.3009_3017delAGCTATAGC CFMDB deletion exon 1 CFMDB_426 c.3014T>G CFMDB substitution exon 1 CFMDB_427 c.3017C>A CFMDB substitution exon 1 CFMDB_1262 c.3021delT CFMDB deletion exon 1 CFMDB_428 c.3021delT CFMDB deletion exon 1 CFMDB_875 c.3022delG CFMDB deletion exon 1 CFMDB_763 c.3023T>A CFMDB substitution exon 1 CFMDB_1101 c.3025G>A CFMDB substitution exon 1 CFMDB_583 c.3038C>T CFMDB substitution exon 1 CFMDB_1372 c.3038C>A CFMDB substitution exon 1 CFMDB_429 c.3039_3040insC CFMDB insertion exon 1 CFMDB_1080 c.3039delC CFMDB deletion exon 1 CFMDB_582 c.3041_3042delAC CFMDB deletion exon 1 CFMDB_829 c.3041A>G CFMDB substitution exon 1 CFMDB_1398 c.3047T>C CFMDB substitution exon 1 CFMDB_1598 c.3059T>A CFMDB substitution exon 1 CFMDB_1263 c.3061C>G CFMDB substitution exon 1 CFMDB_736 c.3061C>T CFMDB substitution exon 1 CFMDB_430 c.3063_3068delAGTGAT CFMDB deletion exon 1 CFMDB_431 c.3064_3117delGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAA CFMDB deletion exon 1 CFMDB_828 c.3067_3072delATAGTG CFMDB deletion exon 1 CFMDB_1650 c.3068_3072delTAGTG CFMDB deletion exon 1 CFMDB_1858 c.3068T>C CFMDB substitution exon 1 CFMDB_1385 c.3074C>A CFMDB substitution exon 1 CFMDB_1567 c.3080T>C CFMDB substitution exon 1 CFMDB_1169 c.3083T>G CFMDB substitution exon 1 CFMDB_584 c.3084G>T CFMDB substitution exon 1 CFMDB_1400 c.3094T>A CFMDB substitution exon 1 CFMDB_721 c.3095A>G CFMDB substitution exon 1 CFMDB_1409 c.3103C>T CFMDB substitution exon 1 CFMDB_1469 c.3106delA CFMDB deletion exon 1 CFMDB_1783 c.3118C>T CFMDB substitution exon 1 CFMDB_2013 c.3119T>G CFMDB substitution exon 1 CFMDB_1142 c.3124C>T CFMDB substitution exon 1 CFMDB_1722 c.3131A>G CFMDB substitution exon 1 CFMDB_1973 c.3136G>T CFMDB substitution exon 1 CFMDB_937 c.3139+18C>T CFMDB substitution intron 1 CFMDB_827 c.3139+101C>G CFMDB substitution intron 1 CFMDB_1314 c.3139G>C CFMDB substitution exon 1 CFMDB_1672 c.3139+1G>T CFMDB substitution intron 1 CFMDB_1508 c.3139+8A>G CFMDB substitution intron 1 CFMDB_938 c.3139+42A>T CFMDB substitution intron 1 CFMDB_1666 c.3139+80A>T CFMDB substitution intron 1 CFMDB_1104 c.3139+183T>G CFMDB substitution intron 1 CFMDB_434 c.3139+1G>A CFMDB substitution intron 1 CFMDB_970 c.3139_3139+1delGG CFMDB deletion not within known transcription unit 1 CFMDB_1931 c.3139+181t>A CFMDB substitution intron 1 CFMDB_1954 c.3139+193_3139+198delTAAT CFMDB deletion intron 1 CFMDB_1955 c.3139+202a>T CFMDB substitution intron 1 CFMDB_675 c.3140G>A CFMDB substitution exon 1 CFMDB_436 c.3140-4A>G CFMDB substitution intron 1 CFMDB_437 c.3140-1G>A CFMDB substitution intron 1 CFMDB_1351 c.3140-11A>G CFMDB substitution intron 1 CFMDB_433 c.3140-9A>T CFMDB substitution intron 1 CFMDB_432 c.3140-54_3140-649del CFMDB deletion intron 1 CFMDB_1562 c.3140-42G>T CFMDB substitution intron 1 CFMDB_435 c.3140-26A>G CFMDB substitution intron 1 CFMDB_1089 c.3140-33A>G CFMDB substitution intron 1 CFMDB_1540 c.3142A>G CFMDB substitution exon 1 CFMDB_1747 c.3148C>G CFMDB substitution exon 1 CFMDB_1397 c.3151A>G CFMDB substitution exon 1 CFMDB_438 c.3154T>G CFMDB substitution exon 1 CFMDB_977 c.3158C>T CFMDB substitution exon 1 CFMDB_439 c.3160C>G CFMDB substitution exon 1 CFMDB_1577 c.3161A>G CFMDB substitution exon 1 CFMDB_1523 c.3161A>T CFMDB substitution exon 1 CFMDB_440 c.3161delA CFMDB deletion exon 1 CFMDB_676 c.3169A>G CFMDB substitution exon 1 CFMDB_441 c.3176T>G CFMDB substitution exon 1 CFMDB_777 c.3177A>G CFMDB substitution exon 1 CFMDB_442 c.3179A>C CFMDB substitution exon 1 CFMDB_443 c.3181G>C CFMDB substitution exon 1 CFMDB_2011 c.3186A>G CFMDB substitution exon 1 CFMDB_444 c.3188_3189insCTATG CFMDB insertion exon 1 CFMDB_445 c.3189G>A CFMDB substitution exon 1 CFMDB_801 c.3193C>T CFMDB substitution exon 1 CFMDB_447 c.3194T>G CFMDB substitution exon 1 CFMDB_446 c.3194T>C CFMDB substitution exon 1 CFMDB_448 c.3196C>T CFMDB substitution exon 1 CFMDB_449 c.3196C>A CFMDB substitution exon 1 CFMDB_1974 c.3196C>G CFMDB substitution exon 1 CFMDB_450 c.3197G>A CFMDB substitution exon 1 CFMDB_451 c.3197G>T CFMDB substitution exon 1 CFMDB_452 c.3199G>A CFMDB substitution exon 1 CFMDB_1631 c.3199G>C CFMDB substitution exon 1 CFMDB_1758 c.3199_3200delinsA CFMDB complex exon 1 CFMDB_1450 c.3200C>G CFMDB substitution exon 1 CFMDB_1200 c.3200C>A CFMDB substitution exon 1 CFMDB_778 c.3200C>T CFMDB substitution exon 1 CFMDB_779 c.3201C>T CFMDB substitution exon 1 CFMDB_780 c.3204C>T CFMDB substitution exon 1 CFMDB_453 c.3205G>A CFMDB substitution exon 1 CFMDB_454 c.3208C>T CFMDB substitution exon 1 CFMDB_455 c.3209G>A CFMDB substitution exon 1 CFMDB_589 c.3209G>C CFMDB substitution exon 1 CFMDB_1357 c.3211C>T CFMDB substitution exon 1 CFMDB_456 c.3212A>C CFMDB substitution exon 1 CFMDB_1120 c.3213G>T CFMDB substitution exon 1 CFMDB_963 c.3215C>T CFMDB substitution exon 1 CFMDB_1294 c.3218A>G CFMDB substitution exon 1 CFMDB_2010 c.3220T>C CFMDB substitution exon 1 CFMDB_457 c.3222T>A CFMDB substitution exon 1 CFMDB_458 c.3229_3230delCT CFMDB deletion exon 1 CFMDB_459 c.3230T>C CFMDB substitution exon 1 CFMDB_2005 c.3232T>A CFMDB substitution exon 1 CFMDB_1738 c.3233T>C CFMDB substitution exon 1 CFMDB_1474 c.3236A>C CFMDB substitution exon 1 CFMDB_1863 c.3238A>C CFMDB substitution exon 1 CFMDB_1359 c.3239A>G CFMDB substitution exon 1 CFMDB_1966 c.3239A>T CFMDB substitution exon 1 CFMDB_1212 c.3241G>C CFMDB substitution exon 1 CFMDB_781 c.3252A>G CFMDB substitution exon 1 CFMDB_460 c.3254A>G CFMDB substitution exon 1 CFMDB_1354 c.3256A>G CFMDB substitution exon 1 CFMDB_461 c.3257C>T CFMDB substitution exon 1 CFMDB_1468 c.3259G>C CFMDB substitution exon 1 CFMDB_855 c.3262A>G CFMDB substitution exon 1 CFMDB_1711 c.3263dupA CFMDB duplication exon 1 CFMDB_1115 c.3264delC CFMDB deletion exon 1 CFMDB_462 c.3266G>A CFMDB substitution exon 1 CFMDB_747 c.3274T>C CFMDB substitution exon 1 CFMDB_1488 c.3275A>G CFMDB substitution exon 1 CFMDB_463 c.3276C>A CFMDB substitution exon 1 CFMDB_464 c.3276C>G CFMDB substitution exon 1 CFMDB_594 c.3278T>C CFMDB substitution exon 1 CFMDB_782 c.3285A>T CFMDB substitution exon 1 CFMDB_1110 c.3287T>G CFMDB substitution exon 1 CFMDB_465 c.3287delT CFMDB deletion exon 1 CFMDB_466 c.3291delC CFMDB deletion exon 1 CFMDB_467 c.3292T>C CFMDB substitution exon 1 CFMDB_1641 c.3293G>T CFMDB substitution exon 1 CFMDB_468 c.3293G>A CFMDB substitution exon 1 CFMDB_469 c.3294delG CFMDB deletion exon 1 CFMDB_638 c.3294G>A CFMDB substitution exon 1 CFMDB_2003 c.3294G>C CFMDB substitution exon 1 CFMDB_470 c.3299A>C CFMDB substitution exon 1 CFMDB_472 c.3302T>G CFMDB substitution exon 1 CFMDB_471 c.3302T>A CFMDB substitution exon 1 CFMDB_1435 c.3304A>T CFMDB substitution exon 1 CFMDB_1688 c.3306A>G CFMDB substitution exon 1 CFMDB_1937 c.3308T>A CFMDB substitution exon 1 CFMDB_473 c.3310G>T CFMDB substitution exon 1 CFMDB_1977 c.3310G>A CFMDB substitution exon 1 CFMDB_1315 c.3314T>G CFMDB substitution exon 1 CFMDB_1669 c.3315delG CFMDB deletion exon 1 CFMDB_1515 c.3322G>C CFMDB substitution exon 1 CFMDB_1890 c.3331_3332delinsA CFMDB complex exon 1 CFMDB_1849 c.3331T>C CFMDB substitution exon 1 CFMDB_783 c.3339T>C CFMDB substitution exon 1 CFMDB_1157 c.3345C>A CFMDB substitution exon 1 CFMDB_993 c.3353C>G CFMDB substitution exon 1 CFMDB_897 c.3353C>T CFMDB substitution exon 1 CFMDB_474 c.3364delA CFMDB deletion exon 1 CFMDB_478 c.3367+2T>C CFMDB substitution intron 1 CFMDB_941 c.3367+45T>C CFMDB substitution intron 1 CFMDB_475 c.3367G>C CFMDB substitution exon 1 CFMDB_1316 c.3367+7T>G CFMDB substitution intron 1 CFMDB_1674 c.3367+29G>A CFMDB substitution intron 1 CFMDB_940 c.3367+37G>A CFMDB substitution intron 1 CFMDB_677 c.3367+3A>G CFMDB substitution intron 1 CFMDB_476 c.3367+6A>G CFMDB substitution intron 1 CFMDB_943 c.3368-140A>C CFMDB substitution intron 1 CFMDB_1561 c.3368-50A>C CFMDB substitution intron 1 CFMDB_967 c.3368-2A>G CFMDB substitution intron 1 CFMDB_1588 c.3368-1G>A CFMDB substitution intron 1 CFMDB_693 c.3368-44G>A CFMDB substitution intron 1 CFMDB_804 c.3371_3373delAAG CFMDB deletion exon 1 CFMDB_477 c.3380G>A CFMDB substitution exon 1 CFMDB_678 c.3382A>T CFMDB substitution exon 1 CFMDB_1252 c.3386T>G CFMDB substitution exon 1 CFMDB_1651 c.3386T>G CFMDB substitution exon 1 CFMDB_1218 c.3389G>C CFMDB substitution exon 1 CFMDB_1055 c.3391A>G CFMDB substitution exon 1 CFMDB_881 c.3400_3401delACinsGTA CFMDB complex exon 1 CFMDB_1167 c.3406G>A CFMDB substitution exon 1 CFMDB_479 c.3409A>G CFMDB substitution exon 1 CFMDB_1549 c.3410T>C CFMDB substitution exon 1 CFMDB_480 c.3410T>G CFMDB substitution exon 1 CFMDB_481 c.3415A>G CFMDB substitution exon 1 CFMDB_482 c.3418_3420delATG CFMDB deletion exon 1 CFMDB_898 c.3419T>A CFMDB substitution exon 1 CFMDB_483 c.3424_3425insAGTA CFMDB insertion exon 1 CFMDB_1170 c.3425C>T CFMDB substitution exon 1 CFMDB_484 c.3430C>T CFMDB substitution exon 1 CFMDB_1757 c.3434G>A CFMDB substitution exon 1 CFMDB_1117 c.3435G>A CFMDB substitution exon 1 CFMDB_834 c.3439G>A CFMDB substitution exon 1 CFMDB_1374 c.3443A>G CFMDB substitution exon 1 CFMDB_1126 c.3444C>A CFMDB substitution exon 1 CFMDB_838 c.3445delT CFMDB deletion exon 1 CFMDB_485 c.3454G>C CFMDB substitution exon 1 CFMDB_679 c.3458T>A CFMDB substitution exon 1 CFMDB_1662 c.3460G>T CFMDB substitution exon 1 CFMDB_486 c.3461A>G CFMDB substitution exon 1 CFMDB_1174 c.3468+2T>C CFMDB substitution intron 1 CFMDB_1640 c.3468G>T CFMDB substitution exon 1 CFMDB_694 c.3468+42G>A CFMDB substitution intron 1 CFMDB_488 c.3468+5G>A CFMDB substitution intron 1 CFMDB_845 c.3468+2_3468+3insT CFMDB insertion intron 1 CFMDB_487 c.3468G>A CFMDB substitution exon 1 CFMDB_945 c.3469-111G>C CFMDB substitution intron 1 CFMDB_944 c.3469-65C>A CFMDB substitution intron 1 CFMDB_608 c.3469-20T>C CFMDB substitution intron 1 CFMDB_489 c.3469-17T>C CFMDB substitution intron 1 CFMDB_490 c.3469-2A>G CFMDB substitution intron 1 CFMDB_1719 c.3469-331_3469-295del37;3469-189_3717+3822del4260pb CFMDB deletion intron 1 CFMDB_491 c.3472C>T CFMDB substitution exon 1 CFMDB_1879 c.3472C>A CFMDB substitution exon 1 CFMDB_492 c.3475T>C CFMDB substitution exon 1 CFMDB_1158 c.3476C>T CFMDB substitution exon 1 CFMDB_1745 c.3476C>A CFMDB substitution exon 1 CFMDB_1317 c.3481A>C CFMDB substitution exon 1 CFMDB_493 c.3484C>T CFMDB substitution exon 1 CFMDB_784 c.3485G>T CFMDB substitution exon 1 CFMDB_1673 c.3485_3486delGA CFMDB deletion exon 1 CFMDB_607 c.3490_3491insT CFMDB insertion exon 1 CFMDB_1903 c.3494A>C CFMDB substitution exon 1 CFMDB_1366 c.3497T>G CFMDB substitution exon 1 CFMDB_1350 c.3497delT CFMDB deletion exon 1 CFMDB_494 c.3503A>G CFMDB substitution exon 1 CFMDB_1560 c.3504C>T CFMDB substitution exon 1 CFMDB_495 c.3528delC CFMDB deletion exon 1 CFMDB_1216 c.3529A>T CFMDB substitution exon 1 CFMDB_496 c.3530A>G CFMDB substitution exon 1 CFMDB_497 c.3530delA CFMDB deletion exon 1 CFMDB_499 c.3535_3536insTCAA CFMDB insertion exon 1 CFMDB_498 c.3535_3538delACCA CFMDB deletion exon 1 CFMDB_1050 c.3540delA CFMDB deletion exon 1 CFMDB_500 c.3546C>G CFMDB substitution exon 1 CFMDB_602 c.3556C>T CFMDB substitution exon 1 CFMDB_785 c.3558A>G CFMDB substitution exon 1 CFMDB_984 c.3564G>A CFMDB substitution exon 1 CFMDB_501 c.3569T>A CFMDB substitution exon 1 CFMDB_1288 c.3584A>C CFMDB substitution exon 1 CFMDB_502 c.3587C>G CFMDB substitution exon 1 CFMDB_503 c.3592delG CFMDB deletion exon 1 CFMDB_786 c.3594G>T CFMDB substitution exon 1 CFMDB_1930 c.3598delAinsTCT CFMDB complex exon 1 CFMDB_504 c.3600A>G CFMDB substitution exon 1 CFMDB_505 c.3605delA CFMDB deletion exon 1 CFMDB_1990 c.3607A>G CFMDB substitution exon 1 CFMDB_506 c.3611G>A CFMDB substitution exon 1 CFMDB_1511 c.3612G>A CFMDB substitution exon 1 CFMDB_1440 c.3617C>A CFMDB substitution exon 1 CFMDB_623 c.3617C>G CFMDB substitution exon 1 CFMDB_507 c.3618_3619delAG CFMDB deletion exon 1 CFMDB_960 c.3623delG CFMDB deletion exon 1 CFMDB_2008 c.3627A>C CFMDB substitution exon 1 CFMDB_1399 c.3629T>A CFMDB substitution exon 1 CFMDB_508 c.3630G>A CFMDB substitution exon 1 CFMDB_509 c.3634G>A CFMDB substitution exon 1 CFMDB_1878 c.3634G>T CFMDB substitution exon 1 CFMDB_1559 c.3648A>C CFMDB substitution exon 1 CFMDB_890 c.3657_3658insA CFMDB insertion exon 1 CFMDB_510 c.3659delC CFMDB deletion exon 1 CFMDB_787 c.3659C>T CFMDB substitution exon 1 CFMDB_1900 c.3664_3665insTCAA CFMDB insertion exon 1 CFMDB_1904 c.3674C>T CFMDB substitution exon 1 CFMDB_812 c.3680T>C CFMDB substitution exon 1 CFMDB_1882 c.3681A>G CFMDB substitution exon 1 CFMDB_1847 c.3682G>A CFMDB substitution exon 1 CFMDB_1084 c.3683A>G CFMDB substitution exon 1 CFMDB_1746 c.3687C>A CFMDB substitution exon 1 CFMDB_728 c.3689T>C CFMDB substitution exon 1 CFMDB_1230 c.3691delT CFMDB deletion exon 1 CFMDB_511 c.3691delT CFMDB deletion exon 1 CFMDB_628 c.3700A>C CFMDB substitution exon 1 CFMDB_512 c.3700A>G CFMDB substitution exon 1 CFMDB_513 c.3705T>G CFMDB substitution exon 1 CFMDB_1975 c.3708delT CFMDB deletion exon 1 CFMDB_1127 c.3709G>A CFMDB substitution exon 1 CFMDB_514 c.3712C>T CFMDB substitution exon 1 CFMDB_515 c.3713A>G CFMDB substitution exon 1 CFMDB_518 c.3717+12191C>T CFMDB substitution intron 1 CFMDB_516 c.3717G>A CFMDB substitution exon 1 CFMDB_1695 c.3717G>C CFMDB substitution exon 1 CFMDB_1319 c.3717+40A>G CFMDB substitution intron 1 CFMDB_1320 c.3717+45G>A CFMDB substitution intron 1 CFMDB_519 c.3717+4A>G CFMDB substitution intron 1 CFMDB_847 c.3717+5G>A CFMDB substitution intron 1 CFMDB_517 c.3717+1G>A CFMDB substitution intron 1 CFMDB_595 c.3718-130T>C CFMDB substitution intron 1 CFMDB_741 c.3718-79T>C CFMDB substitution intron 1 CFMDB_1616 c.3718-41C>G CFMDB substitution intron 1 CFMDB_521 c.3718-3T>G CFMDB substitution intron 1 CFMDB_520 c.3718-1G>A CFMDB substitution intron 1 CFMDB_1763 c.3718-39a>G CFMDB substitution intron 1 CFMDB_1054 c.3719T>G CFMDB substitution exon 1 CFMDB_522 c.3728_3758del CFMDB deletion exon 1 CFMDB_1481 c.3730G>A CFMDB substitution exon 1 CFMDB_523 c.3731G>A CFMDB substitution exon 1 CFMDB_524 c.3731G>T CFMDB substitution exon 1 CFMDB_788 c.3735A>G CFMDB substitution exon 1 CFMDB_525 c.3737C>T CFMDB substitution exon 1 CFMDB_1490 c.3739G>C CFMDB substitution exon 1 CFMDB_599 c.3739G>A CFMDB substitution exon 1 CFMDB_808 c.3744delA CFMDB deletion exon 1 CFMDB_526 c.3745G>A CFMDB substitution exon 1 CFMDB_527 c.3746G>A CFMDB substitution exon 1 CFMDB_1040 c.3747delG CFMDB deletion exon 1 CFMDB_528 c.3752G>A CFMDB substitution exon 1 CFMDB_609 c.3754A>C CFMDB substitution exon 1 CFMDB_1615 c.3759G>A CFMDB substitution exon 1 CFMDB_1867 c.3759G>C CFMDB substitution exon 1 CFMDB_529 c.3761T>G CFMDB substitution exon 1 CFMDB_1751 c.3762A>T CFMDB substitution exon 1 CFMDB_530 c.3763T>C CFMDB substitution exon 1 CFMDB_698 c.3764C>T CFMDB substitution exon 1 CFMDB_531 c.3764C>A CFMDB substitution exon 1 CFMDB_532 c.3766_3767insC CFMDB insertion exon 1 CFMDB_1842 c.3767C>T CFMDB substitution exon 1 CFMDB_899 c.3771T>G CFMDB substitution exon 1 CFMDB_533 c.3773_3774insT CFMDB insertion exon 1 CFMDB_534 c.3774_3775insG CFMDB insertion exon 1 CFMDB_535 c.3780_3782delACT CFMDB deletion exon 1 CFMDB_1327 c.3779T>G CFMDB substitution exon 1 CFMDB_1582 c.3787A>G CFMDB substitution exon 1 CFMDB_1404 c.3788C>T CFMDB substitution exon 1 CFMDB_606 c.3790_3799delGAAGGAGAAA CFMDB deletion exon 1 CFMDB_1773 c.3800T>A CFMDB substitution exon 1 CFMDB_1623 c.3803A>G CFMDB substitution exon 1 CFMDB_536 c.3806T>A CFMDB substitution exon 1 CFMDB_789 c.3807C>T CFMDB substitution exon 1 CFMDB_537 c.3808G>A CFMDB substitution exon 1 CFMDB_1475 c.3808G>T CFMDB substitution exon 1 CFMDB_839 c.3816_3817delGT CFMDB deletion exon 1 CFMDB_1992 c.3815_3816delTG CFMDB deletion exon 1 CFMDB_989 c.3822G>A CFMDB substitution exon 1 CFMDB_1883 c.3825T>C CFMDB substitution exon 1 CFMDB_1332 c.3829delA CFMDB deletion exon 1 CFMDB_1770 c.3835_3836delTT CFMDB deletion exon 1 CFMDB_1734 c.3837G>A CFMDB substitution exon 1 CFMDB_680 c.3841C>T CFMDB substitution exon 1 CFMDB_597 c.3844T>G CFMDB substitution exon 1 CFMDB_538 c.3844T>C CFMDB substitution exon 1 CFMDB_708 c.3846G>T CFMDB substitution exon 1 CFMDB_539 c.3846G>A CFMDB substitution exon 1 CFMDB_1744 c.3847A>G CFMDB substitution exon 1 CFMDB_541 c.3848G>T CFMDB substitution exon 1 CFMDB_540 c.3848G>A CFMDB substitution exon 1 CFMDB_1834 c.3717+12192G>A CFMDB substitution intron 1 CFMDB_1793 c.3854C>T CFMDB substitution exon 1 CFMDB_1727 c.3855delC CFMDB deletion exon 1 CFMDB_1843 c.3854C>T CFMDB substitution exon 1 CFMDB_542 c.3857T>C CFMDB substitution exon 1 CFMDB_1584 c.3868C>A CFMDB substitution exon 1 CFMDB_1513 c.3868C>T CFMDB substitution exon 1 CFMDB_790 c.3870A>G CFMDB substitution exon 1 CFMDB_1098 c.3871C>T CFMDB substitution exon 1 CFMDB_543 c.3872A>G CFMDB substitution exon 1 CFMDB_756 c.3873+2T>C CFMDB substitution intron 1 CFMDB_1321 c.3873+29G>C CFMDB substitution intron 1 CFMDB_544 c.3873G>C CFMDB substitution exon 1 CFMDB_545 c.3873+1G>A CFMDB substitution intron 1 CFMDB_1659 c.3873+23delA CFMDB deletion intron 1 CFMDB_1322 c.3873+33A>G CFMDB substitution intron 1 CFMDB_946 c.3873+117T>G CFMDB substitution intron 1 CFMDB_947 c.3873+121T[6_8] CFMDB complex intron 1 CFMDB_1835 c.3873+3G>T CFMDB substitution intron 1 CFMDB_1557 c.3874-50A>C CFMDB substitution intron 1 CFMDB_1558 c.3874-26T>C CFMDB substitution intron 1 CFMDB_644 c.3874-14C>G CFMDB substitution intron 1 CFMDB_1628 c.3874-11T>G CFMDB substitution intron 1 CFMDB_681 c.3874-4A>G CFMDB substitution intron 1 CFMDB_547 c.3874-19_3874-17delCTT CFMDB deletion intron 1 CFMDB_949 c.3874-200G>A CFMDB substitution intron 1 CFMDB_614 c.3874-103delT CFMDB deletion intron 1 CFMDB_546 c.3874-61_3874-48del CFMDB deletion intron 1 CFMDB_727 c.3874-8T>A CFMDB substitution intron 1 CFMDB_1389 c.3874-46_3874-42delTATTT CFMDB deletion intron 1 CFMDB_1051 c.3876delA CFMDB deletion exon 1 CFMDB_1956 c.3874-66a>G CFMDB substitution intron 1 CFMDB_744 c.3877G>A CFMDB substitution exon 1 CFMDB_548 c.3882_3885delTATT CFMDB deletion exon 1 CFMDB_549 c.3883delA CFMDB deletion exon 1 CFMDB_550 c.3884_3885insT CFMDB insertion exon 1 CFMDB_1417 c.3890_3891insT CFMDB insertion exon 1 CFMDB_1854 c.3893G>C CFMDB substitution exon 1 CFMDB_1957 c.3893G>T CFMDB substitution exon 1 CFMDB_682 c.3896C>T CFMDB substitution exon 1 CFMDB_791 c.3897A>G CFMDB substitution exon 1 CFMDB_645 c.3898T>C CFMDB substitution exon 1 CFMDB_1427 c.3905A>G CFMDB substitution exon 1 CFMDB_551 c.3907A>C CFMDB substitution exon 1 CFMDB_553 c.3908A>T CFMDB substitution exon 1 CFMDB_552 c.3908delA CFMDB deletion exon 1 CFMDB_1762 c.3908dupA CFMDB duplication exon 1 CFMDB_554 c.3909C>G CFMDB substitution exon 1 CFMDB_1599 c.3909_3914del6insTGT CFMDB complex exon 1 CFMDB_1753 c.3910T>A CFMDB substitution exon 1 CFMDB_738 c.3915T>A CFMDB substitution exon 1 CFMDB_555 c.3916_3917insCC CFMDB insertion exon 1 CFMDB_792 c.3918C>T CFMDB substitution exon 1 CFMDB_1279 c.3920A>G CFMDB substitution exon 1 CFMDB_992 c.3921T>A CFMDB substitution exon 1 CFMDB_719 c.3922G>T CFMDB substitution exon 1 CFMDB_1928 c.3925C>G CFMDB substitution exon 1 CFMDB_1938 c.3925C>T CFMDB substitution exon 1 CFMDB_1600 c.3927G>T CFMDB substitution exon 1 CFMDB_556 c.3929G>A CFMDB substitution exon 1 CFMDB_1323 c.3931A>G CFMDB substitution exon 1 CFMDB_1759 c.3932_3933delinsAATATG CFMDB complex exon 1 CFMDB_1901 c.3932G>A CFMDB substitution exon 1 CFMDB_1654 c.3935A>G CFMDB substitution exon 1 CFMDB_683 c.3937C>A CFMDB substitution exon 1 CFMDB_557 c.3937C>T CFMDB substitution exon 1 CFMDB_558 c.3947G>A CFMDB substitution exon 1 CFMDB_903 c.3953T>C CFMDB substitution exon 1 CFMDB_1997 c.3953T>G CFMDB substitution exon 1 CFMDB_793 c.3954T>C CFMDB substitution exon 1 CFMDB_1700 c.3956C>A CFMDB substitution exon 1 CFMDB_1836 c.3957_3958insAGGG CFMDB insertion exon 1 CFMDB_559 c.3961G>C CFMDB substitution exon 1 CFMDB_1415 c.3964-78_4242+577del CFMDB deletion intron 1 CFMDB_1601 c.3963+1G>C CFMDB substitution intron 1 CFMDB_612 c.3963+42T>C CFMDB substitution intron 1 CFMDB_1655 c.3963+1G>T CFMDB substitution intron 1 CFMDB_1370 c.3963+2T>A CFMDB substitution intron 1 CFMDB_1712 c.3963+69a>G CFMDB substitution intron 1 CFMDB_1812 c.3963+30_3963+31insCT CFMDB insertion intron 1 CFMDB_1818 c.3963+2t>A CFMDB substitution intron 1 CFMDB_950 c.3964-283T>C CFMDB substitution intron 1 CFMDB_1837 c.3964-6C>T CFMDB substitution intron 1 CFMDB_709 c.3964-3C>G CFMDB substitution intron 1 CFMDB_1260 c.3964-1G>A CFMDB substitution intron 1 CFMDB_684 c.3964-28G>A CFMDB substitution intron 1 CFMDB_1377 c.3971T>C CFMDB substitution exon 1 CFMDB_633 c.3976delT CFMDB deletion exon 1 CFMDB_560 c.3982_3984delATAinsTT CFMDB complex exon 1 CFMDB_1730 c.3985G>C CFMDB substitution exon 1 CFMDB_1982 c.3986A>T CFMDB substitution exon 1 CFMDB_1855 c.3997G>T CFMDB substitution exon 1 CFMDB_1580 c.4003C>T CFMDB substitution exon 1 CFMDB_807 c.4004T>C CFMDB substitution exon 1 CFMDB_819 c.4009T>G CFMDB substitution exon 1 CFMDB_1201 c.4015C>T CFMDB substitution exon 1 CFMDB_1784 c.4027G>A CFMDB substitution exon 1 CFMDB_1802 c.4025_4028dupGGGG CFMDB duplication exon 1 CFMDB_1484 c.4036_4042del CFMDB deletion exon 1 CFMDB_1713 c.4035_4038dupCCTA CFMDB duplication exon 1 CFMDB_1602 c.4039_4040insA CFMDB insertion exon 1 CFMDB_561 c.4040_4041delGC CFMDB deletion exon 1 CFMDB_562 c.4042delC CFMDB deletion exon 1 CFMDB_998 c.4045G>A CFMDB substitution exon 1 CFMDB_563 c.4046G>A CFMDB substitution exon 1 CFMDB_634 c.4051A>G CFMDB substitution exon 1 CFMDB_1586 c.4054C>G CFMDB substitution exon 1 CFMDB_564 c.4056G>C CFMDB substitution exon 1 CFMDB_1446 c.4056G>T CFMDB substitution exon 1 CFMDB_1202 c.4071_4073delTAGinsAA CFMDB complex exon 1 CFMDB_1159 c.4074A>T CFMDB substitution exon 1 CFMDB_1472 c.4077_4080delTGTTinsAA CFMDB complex exon 1 CFMDB_565 c.4086_4087insT CFMDB insertion exon 1 CFMDB_566 c.4091C>T CFMDB substitution exon 1 CFMDB_1160 c.4097T>C CFMDB substitution exon 1 CFMDB_1976 c.4097T>A CFMDB substitution exon 1 CFMDB_1764 c.4105_4110delinsAGAA CFMDB complex exon 1 CFMDB_567 c.4111G>T CFMDB substitution exon 1 CFMDB_1776 c.4111_4113dupGAA CFMDB duplication exon 1 CFMDB_1353 c.4114C>A CFMDB substitution exon 1 CFMDB_1507 c.4115C>T CFMDB substitution exon 1 CFMDB_1768 c.4123C>A CFMDB substitution exon 1 CFMDB_1491 c.4124A>C CFMDB substitution exon 1 CFMDB_1932 c.4127_4131delTGGAT CFMDB deletion exon 1 CFMDB_568 c.4129G>C CFMDB substitution exon 1 CFMDB_1991 c.4136+2t>G CFMDB substitution intron 1 CFMDB_621 c.4137-139G>A CFMDB substitution intron 1 CFMDB_1037 c.4137-108A>G CFMDB substitution intron 1 CFMDB_1714 c.4137-116g>A CFMDB substitution intron 1 CFMDB_1958 c.4137-89a>G CFMDB substitution intron 1 CFMDB_1999 c.4137-21g>T CFMDB substitution intron 1 CFMDB_569 c.4139delC CFMDB deletion exon 1 CFMDB_1452 c.4140delA CFMDB deletion exon 1 CFMDB_1573 c.4141T>C CFMDB substitution exon 1 CFMDB_1275 c.4143C>A CFMDB substitution exon 1 CFMDB_959 c.4144C>T CFMDB substitution exon 1 CFMDB_570 c.4147_4148insA CFMDB insertion exon 1 CFMDB_1622 c.4162C>G CFMDB substitution exon 1 CFMDB_685 c.4163T>A CFMDB substitution exon 1 CFMDB_1652 c.4168C>T CFMDB substitution exon 1 CFMDB_1213 c.4170delA CFMDB deletion exon 1 CFMDB_1884 c.4182T>C CFMDB substitution exon 1 CFMDB_571 c.4190T>A CFMDB substitution exon 1 CFMDB_1479 c.4193T>G CFMDB substitution exon 1 CFMDB_573 c.4196_4197delTC CFMDB deletion exon 1 CFMDB_1665 c.4196_4197delTC CFMDB deletion exon 1 CFMDB_1658 c.4197C>G CFMDB substitution exon 1 CFMDB_1741 c.4197C>G CFMDB substitution exon 1 CFMDB_1111 c.4200_4201delTG CFMDB deletion exon 1 CFMDB_1732 c.4201dupG CFMDB duplication exon 1 CFMDB_1514 c.4201G>A CFMDB substitution exon 1 CFMDB_854 c.4201G>T CFMDB substitution exon 1 CFMDB_1250 c.4202A>C CFMDB substitution exon 1 CFMDB_1603 c.4202A>G CFMDB substitution exon 1 CFMDB_1378 c.4220T>C CFMDB substitution exon 1 CFMDB_794 c.4224G>A CFMDB substitution exon 1 CFMDB_1364 c.4225G>A CFMDB substitution exon 1 CFMDB_572 c.4226A>T CFMDB substitution exon 1 CFMDB_574 c.4231C>T CFMDB substitution exon 1 CFMDB_1959 c.4232A>C CFMDB substitution exon 1 CFMDB_575 c.4234C>T CFMDB substitution exon 1 CFMDB_1547 c.4241T>C CFMDB substitution exon 1 CFMDB_1838 c.4242+2T>C CFMDB substitution intron 1 CFMDB_917 c.4242+10T>C CFMDB substitution intron 1 CFMDB_951 c.4242+13A>G CFMDB substitution intron 1 CFMDB_952 c.4242+14A>G CFMDB substitution intron 1 CFMDB_576 c.4242+1G>A CFMDB substitution intron 1 CFMDB_577 c.4242+1G>T CFMDB substitution intron 1 CFMDB_1604 c.4242_4242+1delGGinsTT CFMDB complex intron 1 CFMDB_953 c.4243-15C>T CFMDB substitution intron 1 CFMDB_1251 c.4243-2A>C CFMDB substitution intron 1 CFMDB_1038 c.4243-1G>C CFMDB substitution intron 1 CFMDB_1743 c.4243-7delT CFMDB deletion intron 1 CFMDB_1817 c.4243-3T>A CFMDB substitution intron 1 CFMDB_1961 c.4243-35delT CFMDB deletion intron 1 CFMDB_1960 c.4243-53c>T CFMDB substitution intron 1 CFMDB_578 c.4251delA CFMDB deletion exon 1 CFMDB_1428 c.4252G>T CFMDB substitution exon 1 CFMDB_814 c.4264C>T CFMDB substitution exon 1 CFMDB_795 c.4272C>T CFMDB substitution exon 1 CFMDB_1771 c.4272C>A CFMDB substitution exon 1 CFMDB_1161 c.4276T>C CFMDB substitution exon 1 CFMDB_1276 c.4277C>T CFMDB substitution exon 1 CFMDB_1859 c.4280T>C CFMDB substitution exon 1 CFMDB_700 c.4296C>G CFMDB substitution exon 1 CFMDB_846 c.4296_4297insGA CFMDB insertion exon 1 CFMDB_1406 c.4312C>T CFMDB substitution exon 1 CFMDB_1962 c.4320C>T CFMDB substitution exon 1 CFMDB_1556 c.4332C>T CFMDB substitution exon 1 CFMDB_629 c.4333G>A CFMDB substitution exon 1 CFMDB_1014 c.4357C>T CFMDB substitution exon 1 CFMDB_579 c.4364C>G CFMDB substitution exon 1 CFMDB_1978 c.4367G>A CFMDB substitution exon 1 CFMDB_1816 c.4375A>A CFMDB substitution exon 1 CFMDB_1543 c.4389G>T CFMDB substitution exon 1 CFMDB_796 c.4389G>A CFMDB substitution exon 1 CFMDB_1825 c.4404A>C CFMDB substitution exon 1 CFMDB_1341 c.4417G>T CFMDB substitution exon 1 CFMDB_1550 c.4425G>A CFMDB substitution exon 1 CFMDB_1034 c.4426C>T CFMDB substitution exon 1 CFMDB_1162 c.4431T>C CFMDB substitution exon 1 CFMDB_1542 c.4439T>C CFMDB substitution exon 1 CFMDB_1324 c.*2G>A CFMDB substitution not within known transcription unit 1 CFMDB_1039 c.*80T>G CFMDB substitution not within known transcription unit 1 CFMDB_1965 c.580-2a>G CFMDB substitution intron 1 CFMDB_2015 c.3717+3g>T CFMDB substitution intron 1 CFMDB_1369 c.(?_2620)_(3367_?)del CFMDB deletion not within known transcription unit 1 CFMDB_580 c.(?_274)_(1116_?)del(?_1585)_(3468_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1664 c.(?_-132)_(273_?)dup CFMDB duplication not within known transcription unit 1 CFMDB_1380 c.4_53+69delins299 CFMDB complex not within known transcription unit 1 CFMDB_1411 c.4_53+69delins299 CFMDB complex not within known transcription unit 1 CFMDB_1430 c.4_53+69delins299 CFMDB complex intron 1 CFMDB_1429 c.(?_-1270)_(*1553_?)del CFMDB deletion not within known transcription unit 1 CFMDB_687 c.54-5940_273+10250del21kb CFMDB deletion intron 1 CFMDB_686 c.(?_54)_(164_?)del CFMDB deletion exon 1 CFMDB_1105 c.(?_54)_(1584_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1381 c.(?_165)_(1584_?)del(?_1620)_(2988_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1431 c.(?_165)_(1584_?)del(?_1620)_(2988_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1412 c.(?_274)_(489_?)delins41 CFMDB complex exon 1 CFMDB_1413 c.(?_274)_(743_?)delins6 CFMDB complex not within known transcription unit 1 CFMDB_1407 c.(?_274)_(1210_?)dup CFMDB duplication not within known transcription unit 1 CFMDB_581 c.(?_274)_(1584_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1607 c.(?_1211)_(2988_?)dup CFMDB duplication not within known transcription unit 1 CFMDB_1606 c.(?_1394)_(1766_?)dup CFMDB duplication not within known transcription unit 1 CFMDB_1414 c.1393+12_2657+403delins35 CFMDB complex intron 1 CFMDB_689 c.(?_1767)_(2490_?)del CFMDB deletion exon 1 CFMDB_642 c.(?_2620)_(3468_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1106 c.(?_2909)_(33367_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1085 c.(?_3140)_(3468_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1205 c.(?_3469)_(3717_?)del5.3kb CFMDB deletion exon 1 CFMDB_1086 c.(?_3874)_(3963_?)del CFMDB deletion exon 1 CFMDB_1522 c.-12_10del23 CFMDB deletion 5' UTR 1 CFMDB_1356 c.1360_1387del CFMDB deletion exon 1 CFMDB_1456 c.(?_2989)_(3468_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1434 c.33281_3367+268del355insTGTTAA CFMDB complex not within known transcription unit 1 CFMDB_1454 c.(?_-1270)_(53_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1457 c.(?_2989)_(3367_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1433 c.2989-977_3367+248del CFMDB deletion intron 1 CFMDB_1498 c.1297_1313del CFMDB deletion exon 1 CFMDB_1518 c.(?_-1270)_(273_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1453 c.(?_-1270)_(164_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1480 c.(?_744)_(1584_?)dup CFMDB duplication not within known transcription unit 1 CFMDB_1459 c.(?_274)_(743_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1460 c.(?_54)_(273_?)del CFMDB deletion intron 1 CFMDB_1605 c.54+2909_870-1620del55429insGTACTCAACAGCTCTAG CFMDB complex intron 1 CFMDB_1455 c.(?_3964)_(*1553_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1458 c.(?_3964)_(4242_?)del CFMDB deletion not within known transcription unit 1 CFMDB_1533 c.53+9711_1393+2670del61634 CFMDB deletion intron 1 CFMDB_1432 c.2620-674_3367+198del CFMDB deletion intron 1 CFMDB_1204 c.4243-36delT CFMDB deletion intron 1 CBS_c.833T>C NM_000071.1(CBS):c.833T>C CBS substitution exon 1 CBS_c.572C>T NM_000071.1(CBS):c.572C>T CBS substitution exon 1 CBS_c.919G>A NM_000071.1(CBS):c.919G>A CBS substitution exon 1 CBS_c.1006C>T NM_000071.1(CBS):c.1006C>T CBS substitution exon 1 CBS_g.22159A>C AF042836.1:g.22159A>C CBS substitution intron 1 CBS_c.969G>A NM_000071.1(CBS):c.969G>A CBS substitution exon 1 CBS_c.1330G>A NM_000071.1(CBS):c.1330G>A CBS substitution exon 1 CBS_c.374G>A NM_000071.1(CBS):c.374G>A CBS substitution exon 1 CBS_c.430G>A NM_000071.1(CBS):c.430G>A CBS substitution exon 1 CBS_c.1058C>T NM_000071.1(CBS):c.1058C>T CBS substitution exon 1 CBS_c.797G>A NM_000071.1(CBS):c.797G>A CBS substitution exon 1 CBS_c.1566delG NM_000071.1(CBS):c.1566delG CBS deletion exon 1 CBS_c.785C>T NM_000071.1(CBS):c.785C>T CBS substitution exon 1 CBS_c.341C>T NM_000071.1(CBS):c.341C>T CBS substitution exon 1 CBS_c.494G>A NM_000071.1(CBS):c.494G>A CBS substitution exon 1 CBS_c.362G>A NM_000071.1(CBS):c.362G>A CBS substitution exon 1 CBS_c.904G>A NM_000071.1(CBS):c.904G>A CBS substitution exon 1 CBS_c.253G>A NM_000071.1(CBS):c.253G>A CBS substitution exon 1 CBS_c.1039G>A NM_000071.1(CBS):c.1039G>A CBS substitution exon 1 CBS_c.302T>C NM_000071.1(CBS):c.302T>C CBS substitution exon 1 CBS_c.676G>A NM_000071.1(CBS):c.676G>A CBS substitution exon 1 CBS_c.1321A>T NM_000071.1(CBS):c.1321A>T CBS substitution exon 1 CBS_c.457G>A NM_000071.1(CBS):c.457G>A CBS substitution exon 1 CBS_c.451G>A NM_000071.1(CBS):c.451G>A CBS substitution exon 1 CBS_c.770C>T NM_000071.1(CBS):c.770C>T CBS substitution exon 1 CBS_c.862G>A NM_000071.1(CBS):c.862G>A CBS substitution exon 1 CBS_c.700G>A NM_000071.1(CBS):c.700G>A CBS substitution exon 1 CBS_c.959T>C NM_000071.1(CBS):c.959T>C CBS substitution exon 1 CBS_c.373C>T NM_000071.1(CBS):c.373C>T CBS substitution exon 1 CBS_c.19_20insC NM_000071.1(CBS):c.19_20insC CBS insertion exon 1 CBS_c.1007G>A NM_000071.1(CBS):c.1007G>A CBS substitution exon 1 CBS_g.9152G>A AF042836.1:g.9152G>A CBS substitution intron 1 CBS_c.346G>A NM_000071.1(CBS):c.346G>A CBS substitution exon 1 CBS_c.146C>T NM_000071.1(CBS):c.146C>T CBS substitution exon 1 CBS_c.361C>T NM_000071.1(CBS):c.361C>T CBS substitution exon 1 CBS_c.1105C>T NM_000071.1(CBS):c.1105C>T CBS substitution exon 1 CBS_c.1111G>A NM_000071.1(CBS):c.1111G>A CBS substitution exon 1 CBS_c.684C>A NM_000071.1(CBS):c.684C>A CBS substitution exon 1 CBS_c.194A>G NM_000071.1(CBS):c.194A>G CBS substitution exon 1 CBS_c.1013T>C NM_000071.1(CBS):c.1013T>C CBS substitution exon 1 CBS_c.533_550del NM_000071.1(CBS):c.533_550del CBS deletion exon 1 CBS_c.1046G>A NM_000071.1(CBS):c.1046G>A CBS substitution exon 1 CBS_c.456C>G NM_000071.1(CBS):c.456C>G CBS substitution exon 1 CBS_c.1316G>A NM_000071.1(CBS):c.1316G>A CBS substitution exon 1 CBS_c.325T>C NM_000071.1(CBS):c.325T>C CBS substitution exon 1 CBS_c.824G>A NM_000071.1(CBS):c.824G>A CBS substitution exon 1 CBS_c.442G>A NM_000071.1(CBS):c.442G>A CBS substitution exon 1 CBS_c.463G>A NM_000071.1(CBS):c.463G>A CBS substitution exon 1 CBS_c.694C>G NM_000071.1(CBS):c.694C>G CBS substitution exon 1 CBS_c.1136G>A NM_000071.1(CBS):c.1136G>A CBS substitution exon 1 CBS_c.683A>G NM_000071.1(CBS):c.683A>G CBS substitution exon 1 CBS_c.689delT NM_000071.1(CBS):c.689delT CBS deletion exon 1 CBS_g.18827G>T AF042836.1:g.18827G>T CBS substitution intron 1 CBS_c.1081G>A NM_000071.1(CBS):c.1081G>A CBS substitution exon 1 CBS_c.1106G>A NM_000071.1(CBS):c.1106G>A CBS substitution exon 1 CBS_c.1060G>A NM_000071.1(CBS):c.1060G>A CBS substitution exon 1 CBS_c.862_866del5 NM_000071.1(CBS):c.862_866del5 CBS deletion exon 1 CBS_c.1150A>G NM_000071.1(CBS):c.1150A>G CBS substitution exon 1 CBS_c.1152G>C NM_000071.1(CBS):c.1152G>C CBS substitution exon 1 CBS_c.715G>A NM_000071.1(CBS):c.715G>A CBS substitution exon 1 CBS_c.700_702delGAC NM_000071.1(CBS):c.700_702delGAC CBS deletion exon 1 CBS_c.691G>C NM_000071.1(CBS):c.691G>C CBS substitution exon 1 CBS_g.15858_15865del AF042836.1:g.15858_15865del CBS deletion intron 1 CBS_g.22875G>C AF042836.1:g.22875G>C CBS substitution intron 1 CBS_c.262C>T NM_000071.1(CBS):c.262C>T CBS substitution exon 1 CBS_c.233C>G NM_000071.1(CBS):c.233C>G CBS substitution exon 1 CBS_c.362G>T NM_000071.1(CBS):c.362G>T CBS substitution exon 1 CBS_g.12518G>C AF042836.1:g.12518G>C CBS substitution intron 1 CBS_c.1591_1594del NM_000071.1(CBS):c.1591_1594del CBS deletion exon 1 CBS_c.502G>A NM_000071.1(CBS):c.502G>A CBS substitution exon 1 CBS_c.518delTGA NM_000071.1(CBS):c.518delTGA CBS deletion exon 1 CBS_c.526G>A NM_000071.1(CBS):c.526G>A CBS substitution exon 1 CBS_g.15521G>A AF042836.1:g.15521G>A CBS substitution intron 1 CBS_c.1226G>A NM_000071.1(CBS):c.1226G>A CBS substitution exon 1 CBS_c.28delG NM_000071.1(CBS):c.28delG CBS deletion exon 1 CBS_c.1616T>C NM_000071.1(CBS):c.1616T>C CBS substitution exon 1 CBS_c.1367T>C NM_000071.1(CBS):c.1367T>C CBS substitution exon 1 CBS_c.1627_1645del NM_000071.1(CBS):c.1627_1645del CBS deletion exon 1 CBS_g.18186G>A AF042836.1:g.18186G>A CBS substitution intron 1 CBS_c.429C>G NM_000071.1(CBS):c.429C>G CBS substitution exon 1 CBS_c.1601T>A NM_000071.1(CBS):c.1601T>A CBS substitution exon 1 CBS_c.1590_1593del NM_000071.1(CBS):c.1590_1593del CBS deletion exon 1 CBS_c.1063G>C NM_000071.1(CBS):c.1063G>C CBS substitution exon 1 CBS_c.1576C>A NM_000071.1(CBS):c.1576C>A CBS substitution exon 1 CBS_c.1055G>A NM_000071.1(CBS):c.1055G>A CBS substitution exon 1 CBS_c.1673_1677del NM_000071.1(CBS):c.1673_1677del CBS deletion exon 1 CBS_c.1471C>T NM_000071.1(CBS):c.1471C>T CBS substitution exon 1 CBS_c.1082C>T NM_000071.1(CBS):c.1082C>T CBS substitution exon 1 CBS_c.1221delC NM_000071.1(CBS):c.1221delC CBS deletion exon 1 CBS_g.21942_22040del AF042836.1:g.21942_22040del CBS deletion intron 1 CBS_g.22072_22120del AF042836.1:g.22072_22120del CBS deletion intron 1 CBS_c.1170G>A NM_000071.1(CBS):c.1170G>A CBS substitution exon 1 CBS_c.1259C>G NM_000071.1(CBS):c.1259C>G CBS substitution exon 1 CBS_c.1265C>T NM_000071.1(CBS):c.1265C>T CBS substitution exon 1 CBS_c.1146_1223del NM_000071.1(CBS):c.1146_1223del CBS deletion exon 1 CBS_g.20700C>T AF042836.1:g.20700C>T CBS substitution intron 1 CBS_c.1286_1288delTCA NM_000071.1(CBS):c.1286_1288delTCA CBS deletion exon 1 CBS_g.20694G>A AF042836.1:g.20694G>A CBS substitution intron 1 CBS_c.1301C>A NM_000071.1(CBS):c.1301C>A CBS substitution exon 1 CBS_c.1304T>C NM_000071.1(CBS):c.1304T>C CBS substitution exon 1 CBS_c.1336G>T NM_000071.1(CBS):c.1336G>T CBS substitution exon 1 CBS_c.1109G>A NM_000071.1(CBS):c.1109G>A CBS substitution exon 1 CBS_c.1126G>A NM_000071.1(CBS):c.1126G>A CBS substitution exon 1 CBS_c.1397C>T NM_000071.1(CBS):c.1397C>T CBS substitution exon 1 CBS_c.1173G>T NM_000071.1(CBS):c.1173G>T CBS substitution exon 1 CBS_c.103G>A;129G>A NM_000071.1(CBS):c.103G>A;129G>A CBS substitution exon 1 CBS_c.415G>A NM_000071.1(CBS):c.415G>A CBS substitution exon 1 CBS_c.434C>T NM_000071.1(CBS):c.434C>T CBS substitution exon 1 CBS_c.443G>A NM_000071.1(CBS):c.443G>A CBS substitution exon 1 CBS_c.452_531del NM_000071.1(CBS):c.452_531del CBS deletion exon 1 CBS_c.461T>A NM_000071.1(CBS):c.461T>A CBS substitution exon 1 CBS_c.464C>T NM_000071.1(CBS):c.464C>T CBS substitution exon 1 CBS_c.469G>C NM_000071.1(CBS):c.469G>C CBS substitution exon 1 CBS_c.493_514del NM_000071.1(CBS):c.493_514del CBS deletion exon 1 CBS_c.503T>C NM_000071.1(CBS):c.503T>C CBS substitution exon 1 CBS_c.393G>C NM_000071.1(CBS):c.393G>C CBS substitution exon 1 CBS_c.384G>C NM_000071.1(CBS):c.384G>C CBS substitution exon 1 CBS_c.153_209del NM_000071.1(CBS):c.153_209del CBS deletion exon 1 CBS_c.172C>T NM_000071.1(CBS):c.172C>T CBS substitution exon 1 CBS_c.194A>C NM_000071.1(CBS):c.194A>C CBS substitution exon 1 CBS_g.9152_9153ins AF042836.1:g.9152_9153ins CBS insertion intron 1 CBS_c.260C>A NM_000071.1(CBS):c.260C>A CBS substitution exon 1 CBS_c.306G>C NM_000071.1(CBS):c.306G>C CBS substitution exon 1 CBS_c.313C>G NM_000071.1(CBS):c.313C>G CBS substitution exon 1 CBS_c.374G>C NM_000071.1(CBS):c.374G>C CBS substitution exon 1 CBS_c.376A>G NM_000071.1(CBS):c.376A>G CBS substitution exon 1 CBS_g.16373_17168del AF042836.1:g.16373_17168del CBS deletion intron 1 CBS_g.15585_15613del AF042836.1:g.15585_15613del CBS deletion intron 1 CBS_c.796A>G NM_000071.1(CBS):c.796A>G CBS substitution exon 1 CBS_c.808_810del NM_000071.1(CBS):c.808_810del CBS deletion exon 1 CBS_g.17239G>A AF042836.1:g.17239G>A CBS substitution intron 1 CBS_c.833T>G NM_000071.1(CBS):c.833T>G CBS substitution exon 1 CBS_c.869C>T NM_000071.1(CBS):c.869C>T CBS substitution exon 1 CBS_c.913G>A NM_000071.1(CBS):c.913G>A CBS substitution exon 1 CBS_c.593A>T NM_000071.1(CBS):c.593A>T CBS substitution exon 1 CBS_c.955_1039del NM_000071.1(CBS):c.955_1039del CBS deletion exon 1 CBS_c.962A>T NM_000071.1(CBS):c.962A>T CBS substitution exon 1 CBS_c.992C>A NM_000071.1(CBS):c.992C>A CBS substitution exon 1 CBS_c.785C>G NM_000071.1(CBS):c.785C>G CBS substitution exon 1 CBS_c.775G>A NM_000071.1(CBS):c.775G>A CBS substitution exon 1 CBS_c.539T>C NM_000071.1(CBS):c.539T>C CBS substitution exon 1 CBS_c.599C>T NM_000071.1(CBS):c.599C>T CBS substitution exon 1 CBS_c.650C>T NM_000071.1(CBS):c.650C>T CBS substitution exon 1 CBS_c.671G>A NM_000071.1(CBS):c.671G>A CBS substitution exon 1 CBS_c.684C>G NM_000071.1(CBS):c.684C>G CBS substitution exon 1 CBS_c.727C>T NM_000071.1(CBS):c.727C>T CBS substitution exon 1 CBS_g.17146G>C AF042836.1:g.17146G>C CBS substitution intron 1 CBS_c.739_768del NM_000071.1(CBS):c.739_768del CBS deletion exon 1 CBS_c.740_764del NM_000071.1(CBS):c.740_764del CBS deletion exon 1 CBS_c.361C>A NM_000071.1(CBS):c.361C>A CBS substitution exon 1 CBS_c.992C>T NM_000071.1(CBS):c.992C>T CBS substitution exon 1 CASRdb_c.2788delC CASR:c.2788delC CASRdb deletion exon 1 CASRdb_c.1061A>C CASR:c.1061A>C CASRdb substitution exon 1 CASRdb_c.1256A>G CASR:c.1256A>G CASRdb substitution exon 1 CASRdb_c.141A>C CASR:c.141A>C CASRdb substitution exon 1 CASRdb_c.1666G>A CASR:c.1666G>A CASRdb substitution exon 1 CASRdb_c.1693T>G CASR:c.1693T>G CASRdb substitution exon 1 CASRdb_c.1765T>C CASR:c.1765T>C CASRdb substitution exon 1 CASRdb_c.1810G>A CASR:c.1810G>A CASRdb substitution exon 1 CASRdb_c.1829A>G CASR:c.1829A>G CASRdb substitution exon 1 CASRdb_c.1835T>C CASR:c.1835T>C CASRdb substitution exon 1 CASRdb_c.2043G>T CASR:c.2043G>T CASRdb substitution exon 1 CASRdb_c.2056A>G CASR:c.2056A>G CASRdb substitution exon 1 CASRdb_c.2180T>A CASR:c.2180T>A CASRdb substitution exon 1 CASRdb_c.2299G>A CASR:c.2299G>A CASRdb substitution exon 1 CASRdb_c.2318T>G CASR:c.2318T>G CASRdb substitution exon 1 CASRdb_c.2362T>C CASR:c.2362T>C CASRdb substitution exon 1 CASRdb_c.2363T>G CASR:c.2363T>G CASRdb substitution exon 1 CASRdb_c.2395G>A CASR:c.2395G>A CASRdb substitution exon 1 CASRdb_c.2405A>T CASR:c.2405A>T CASRdb substitution exon 1 CASRdb_c.2417T>C CASR:c.2417T>C CASRdb substitution exon 1 CASRdb_c.2431A>G CASR:c.2431A>G CASRdb substitution exon 1 CASRdb_c.2459C>G CASR:c.2459C>G CASRdb substitution exon 1 CASRdb_c.2461T>C CASR:c.2461T>C CASRdb substitution exon 1 CASRdb_c.2470G>T CASR:c.2470G>T CASRdb substitution exon 1 CASRdb_c.2483C>A CASR:c.2483C>A CASRdb substitution exon 1 CASRdb_c.2488G>A CASR:c.2488G>A CASRdb substitution exon 1 CASRdb_c.2494T>C CASR:c.2494T>C CASRdb substitution exon 1 CASRdb_c.2495T>C CASR:c.2495T>C CASRdb substitution exon 1 CASRdb_c.2503G>A CASR:c.2503G>A CASRdb substitution exon 1 CASRdb_c.2506G>C CASR:c.2506G>C CASRdb substitution exon 1 CASRdb_c.2528C>A CASR:c.2528C>A CASRdb substitution exon 1 CASRdb_c.2530G>A CASR:c.2530G>A CASRdb substitution exon 1 CASRdb_c.2534G>A CASR:c.2534G>A CASRdb substitution exon 1 CASRdb_c.2682_3224del542 CASR:c.2682_3224del542 CASRdb deletion exon 1 CASRdb_c.2691_2692insG CASR:c.2691_2692insG CASRdb insertion exon 1 CASRdb_c.2693G>A CASR:c.2693G>A CASRdb substitution exon 1 CASRdb_c.2824G>A CASR:c.2824G>A CASRdb substitution exon 1 CASRdb_c.2963C>G CASR:c.2963C>G CASRdb substitution exon 1 CASRdb_c.2968A>G CASR:c.2968A>G CASRdb substitution exon 1 CASRdb_c.2980C>T CASR:c.2980C>T CASRdb substitution exon 1 CASRdb_c.346G>A CASR:c.346G>A CASRdb substitution exon 1 CASRdb_c.346G>C CASR:c.346G>C CASRdb substitution exon 1 CASRdb_c.354C>A CASR:c.354C>A CASRdb substitution exon 1 CASRdb_c.354C>G CASR:c.354C>G CASRdb substitution exon 1 CASRdb_c.372C>A CASR:c.372C>A CASRdb substitution exon 1 CASRdb_c.373C>T CASR:c.373C>T CASRdb substitution exon 1 CASRdb_c.374T>C CASR:c.374T>C CASRdb substitution exon 1 CASRdb_c.379G>A CASR:c.379G>A CASRdb substitution exon 1 CASRdb_c.380A>C CASR:c.380A>C CASRdb substitution exon 1 CASRdb_c.380A>G CASR:c.380A>G CASRdb substitution exon 1 CASRdb_c.382T>C CASR:c.382T>C CASRdb substitution exon 1 CASRdb_c.385T>A CASR:c.385T>A CASRdb substitution exon 1 CASRdb_c.385T>C CASR:c.385T>C CASRdb substitution exon 1 CASRdb_c.386G>A CASR:c.386G>A CASRdb substitution exon 1 CASRdb_c.386G>T CASR:c.386G>T CASRdb substitution exon 1 CASRdb_c.392G>A CASR:c.392G>A CASRdb substitution exon 1 CASRdb_c.392G>T CASR:c.392G>T CASRdb substitution exon 1 CASRdb_c.393C>G CASR:c.393C>G CASRdb substitution exon 1 CASRdb_c.452C>G CASR:c.452C>G CASRdb substitution exon 1 CASRdb_c.452C>T CASR:c.452C>T CASRdb substitution exon 1 CASRdb_c.571G>A CASR:c.571G>A CASRdb substitution exon 1 CASRdb_c.662C>T CASR:c.662C>T CASRdb substitution exon 1 CASRdb_c.682G>A CASR:c.682G>A CASRdb substitution exon 1 CASRdb_c.682G>C CASR:c.682G>C CASRdb substitution exon 1 CASRdb_c.721G>A CASR:c.721G>A CASRdb substitution exon 1 CASRdb_c.734A>G CASR:c.734A>G CASRdb substitution exon 1 CASRdb_c.85A>G CASR:c.85A>G CASRdb substitution exon 1 CASRdb_c.891G>C CASR:c.891G>C CASRdb substitution exon 1 CASRdb_c1846C>G CASR:c1846C>G CASRdb substitution exon 1 CASRdb_c.653A>G CASR:c .653A>G CASRdb substitution exon 1 CASRdb_c.1006_1008delAAG CASR:c.1006_1008delAAG CASRdb deletion exon 1 CASRdb_c.1015C>A CASR:c.1015C>A CASRdb substitution exon 1 CASRdb_c.1031_1034delinsT CASR:c.1031_1034delinsT CASRdb complex exon 1 CASRdb_c.1051T>G CASR:c.1051T>G CASRdb substitution exon 1 CASRdb_c.1056G>A CASR:c.1056G>A CASRdb substitution exon 1 CASRdb_c.115C>G CASR:c.115C>G CASRdb substitution exon 1 CASRdb_c.1174C>T CASR:c.1174C>T CASRdb substitution exon 1 CASRdb_c.1183T>C CASR:c.1183T>C CASRdb substitution exon 1 CASRdb_c.1189G>A CASR:c.1189G>A CASRdb substitution exon 1 CASRdb_c.125T>G CASR:c.125T>G CASRdb substitution exon 1 CASRdb_c.1280T>G CASR:c.1280T>G CASRdb substitution exon 1 CASRdb_c.1297G>C CASR:c.1297G>C CASRdb substitution exon 1 CASRdb_c.1333A>G CASR:c.1333A>G CASRdb substitution exon 1 CASRdb_c.1378-19A>C CASR:c.1378-19A>C CASRdb substitution intron 1 CASRdb_c.1393C>T CASR:c.1393C>T CASRdb substitution exon 1 CASRdb_c.1394G>A CASR:c.1394G>A CASRdb substitution exon 1 CASRdb_c.1430T>C CASR:c.1430T>C CASRdb substitution exon 1 CASRdb_c.1525G>A CASR:c.1525G>A CASRdb substitution exon 1 CASRdb_c.157T>C CASR:c.157T>C CASRdb substitution exon 1 CASRdb_c.1588T>G CASR:c.1588T>G CASRdb substitution exon 1 CASRdb_c.1645G>A CASR:c.1645G>A CASRdb substitution exon 1 CASRdb_c.164C>T CASR:c.164C>T CASRdb substitution exon 1 CASRdb_c.1652G>A CASR:c.1652G>A CASRdb substitution exon 1 CASRdb_c.1657G>A CASR:c.1657G>A CASRdb substitution exon 1 CASRdb_c.1663A>G CASR:c.1663A>G CASRdb substitution exon 1 CASRdb_c.1670G>A CASR:c.1670G>A CASRdb substitution exon 1 CASRdb_c.1685G>A CASR:c.1685G>A CASRdb substitution exon 1 CASRdb_c.1703G>A CASR:c.1703G>A CASRdb substitution exon 1 CASRdb_c.1719T>A CASR:c.1719T>A CASRdb substitution exon 1 CASRdb_c.1745G>A CASR:c.1745G>A CASRdb substitution exon 1 CASRdb_c.1745G>T CASR:c.1745G>T CASRdb substitution exon 1 CASRdb_c.1746_1747insT CASR:c.1746_1747insT CASRdb insertion exon 1 CASRdb_c.1772C>G CASR:c.1772C>G CASRdb substitution exon 1 CASRdb_c.1783C>T CASR:c.1783C>T CASRdb substitution exon 1 CASRdb_c.179G>T CASR:c.179G>T CASRdb substitution exon 1 CASRdb_c.1820C>A CASR:c.1820C>A CASRdb substitution exon 1 CASRdb_c.185G>T CASR:c.185G>T CASRdb substitution exon 1 CASRdb_c.1868G>A CASR:c.1868G>A CASRdb substitution exon 1 CASRdb_c.1913G>T CASR:c.1913G>T CASRdb substitution exon 1 CASRdb_c.1942C>T CASR:c.1942C>T CASRdb substitution exon 1 CASRdb_c.1949T>C CASR:c.1949T>C CASRdb substitution exon 1 CASRdb_c.196C>T CASR:c.196C>T CASRdb substitution exon 1 CASRdb_c.1970C>A CASR:c.1970C>A CASRdb substitution exon 1 CASRdb_c.197G>A CASR:c.197G>A CASRdb substitution exon 1 CASRdb_c.1982G>A CASR:c.1982G>A CASRdb substitution exon 1 CASRdb_c.1997T>C CASR:c.1997T>C CASRdb substitution exon 1 CASRdb_c.1997_1998insT CASR:c.1997_1998insT CASRdb insertion exon 1 CASRdb_c.19_20insT CASR:c.19_20insT CASRdb insertion exon 1 CASRdb_c.2008G>A CASR:c.2008G>A CASRdb substitution exon 1 CASRdb_c.2009G>A CASR:c.2009G>A CASRdb substitution exon 1 CASRdb_c.2038C>T CASR:c.2038C>T CASRdb substitution exon 1 CASRdb_c.2039G>A CASR:c.2039G>A CASRdb substitution exon 1 CASRdb_c.2065G>A CASR:c.2065G>A CASRdb substitution exon 1 CASRdb_c.206G>A CASR:c.206G>A CASRdb substitution exon 1 CASRdb_c.2154G>A CASR:c.2154G>A CASRdb substitution exon 1 CASRdb_c.2182G>A CASR:c.2182G>A CASRdb substitution exon 1 CASRdb_c.2201T>G CASR:c.2201T>G CASRdb substitution exon 1 CASRdb_c.2224T>C CASR:c.2224T>C CASRdb substitution exon 1 CASRdb_c.2240_2241delCCinsT CASR:c.2240_2241delCCinsT CASRdb complex exon 1 CASRdb_c.2243C>A CASR:c.2243C>A CASRdb substitution exon 1 CASRdb_c.2243C>G CASR:c.2243C>G CASRdb substitution exon 1 CASRdb_c.2243C>T CASR:c.2243C>T CASRdb substitution exon 1 CASRdb_c.2265G>T CASR:c.2265G>T CASRdb substitution exon 1 CASRdb_c.2281_2283delATC CASR:c.2281_2283delATC CASRdb deletion exon 1 CASRdb_c.2295C>G CASR:c.2295C>G CASRdb substitution exon 1 CASRdb_c.2333G>A CASR:c.2333G>A CASRdb substitution exon 1 CASRdb_c.2383C>T CASR:c.2383C>T CASRdb substitution exon 1 CASRdb_c.2383delC CASR:c.2383delC CASRdb deletion exon 1 CASRdb_c.2392C>A CASR:c.2392C>A CASRdb substitution exon 1 CASRdb_c.2411C>A CASR:c.2411C>A CASRdb substitution exon 1 CASRdb_c.2427C>G CASR:c.2427C>G CASRdb substitution exon 1 CASRdb_c.243A>G CASR:c.243A>G CASRdb substitution exon 1 CASRdb_c.2449G>A CASR:c.2449G>A CASRdb substitution exon 1 CASRdb_c.2476G>A CASR:c.2476G>A CASRdb substitution exon 1 CASRdb_c.2495T>G CASR:c.2495T>G CASRdb substitution exon 1 CASRdb_c.2501delC CASR:c.2501delC CASRdb deletion exon 1 CASRdb_c.2546T>C CASR:c.2546T>C CASRdb substitution exon 1 CASRdb_c.2550_2551insCCAG CASR:c.2550_2551insCCAG CASRdb insertion exon 1 CASRdb_c.2551T>A CASR:c.2551T>A CASRdb substitution exon 1 CASRdb_c.2627_2628insAlu CASR:c.2627_2628insAlu CASRdb insertion exon 1 CASRdb_c.2641T>C CASR:c.2641T>C CASRdb substitution exon 1 CASRdb_c.2656C>T CASR:c.2656C>T CASRdb substitution exon 1 CASRdb_c.2657G>C CASR:c.2657G>C CASRdb substitution exon 1 CASRdb_c.2687G>A CASR:c.2687G>A CASRdb substitution exon 1 CASRdb_c.2777A>G CASR:c.2777A>G CASRdb substitution exon 1 CASRdb_c.280G>C CASR:c.280G>C CASRdb substitution exon 1 CASRdb_c.280G>T CASR:c.280G>T CASRdb substitution exon 1 CASRdb_c.2956G>T CASR:c.2956G>T CASRdb substitution exon 1 CASRdb_c.299C>T CASR:c.299C>T CASRdb substitution exon 1 CASRdb_c.2T>G CASR:c.2T>G CASRdb substitution exon 1 CASRdb_c.3013G>A CASR:c.3013G>A CASRdb substitution exon 1 CASRdb_c.3031C>G CASR:c.3031C>G CASRdb substitution exon 1 CASRdb_c.3235T>C CASR:c.3235T>C CASRdb substitution exon 1 CASRdb_c.32T>C CASR:c.32T>C CASRdb substitution exon 1 CASRdb_c.38T>C CASR:c.38T>C CASRdb substitution exon 1 CASRdb_c.409T>C CASR:c.409T>C CASRdb substitution exon 1 CASRdb_c.40A>G CASR:c.40A>G CASRdb substitution exon 1 CASRdb_c.413C>T CASR:c.413C>T CASRdb substitution exon 1 CASRdb_c.427G>C CASR:c.427G>C CASRdb substitution exon 1 CASRdb_c.428G>A CASR:c.428G>A CASRdb substitution exon 1 CASRdb_c.472G>C CASR:c.472G>C CASRdb substitution exon 1 CASRdb_c.476T>C CASR:c.476T>C CASRdb substitution exon 1 CASRdb_c.482A>G CASR:c.482A>G CASRdb substitution exon 1 CASRdb_c.488C>G CASR:c.488C>G CASRdb substitution exon 1 CASRdb_c.490C>T CASR:c.490C>T CASRdb substitution exon 1 CASRdb_c.492+1G>C CASR:c.492+1G>C CASRdb substitution intron 1 CASRdb_c.493-1G>T CASR:c.493-1G>T CASRdb substitution intron 1 CASRdb_c.496A>G CASR:c.496A>G CASRdb substitution exon 1 CASRdb_c.512G>A CASR:c.512G>A CASRdb substitution exon 1 CASRdb_c.514A>G CASR:c.514A>G CASRdb substitution exon 1 CASRdb_c.518T>C CASR:c.518T>C CASRdb substitution exon 1 CASRdb_c.521T>G CASR:c.521T>G CASRdb substitution exon 1 CASRdb_c.532A>G CASR:c.532A>G CASRdb substitution exon 1 CASRdb_c.539T>G CASR:c.539T>G CASRdb substitution exon 1 CASRdb_c.553C>T CASR:c.553C>T CASRdb substitution exon 1 CASRdb_c.554G>A CASR:c.554G>A CASRdb substitution exon 1 CASRdb_c.570delT CASR:c.570delT CASRdb deletion exon 1 CASRdb_c.580G>A CASR:c.580G>A CASRdb substitution exon 1 CASRdb_c.60C>T CASR:c.60C>T CASRdb substitution exon 1 CASRdb_c.61G>C CASR:c.61G>C CASRdb substitution exon 1 CASRdb_c.623G>C CASR:c.623G>C CASRdb substitution exon 1 CASRdb_c.635T>C CASR:c.635T>C CASRdb substitution exon 1 CASRdb_c.635T>G CASR:c.635T>G CASRdb substitution exon 1 CASRdb_c.644A>G CASR:c.644A>G CASRdb substitution exon 1 CASRdb_c.653A>C CASR:c.653A>C CASRdb substitution exon 1 CASRdb_c.658C>T CASR:c.658C>T CASRdb substitution exon 1 CASRdb_c.659G>A CASR:c.659G>A CASRdb substitution exon 1 CASRdb_c.659G>C CASR:c.659G>C CASRdb substitution exon 1 CASRdb_c.661C>T CASR:c.661C>T CASRdb substitution exon 1 CASRdb_c.662C>A CASR:c.662C>A CASRdb substitution exon 1 CASRdb_c.674A>C CASR:c.674A>C CASRdb substitution exon 1 CASRdb_c.680G>A CASR:c.680G>A CASRdb substitution exon 1 CASRdb_c.680G>T CASR:c.680G>T CASRdb substitution exon 1 CASRdb_c.73C>T CASR:c.73C>T CASRdb substitution exon 1 CASRdb_c.748G>A CASR:c.748G>A CASRdb substitution exon 1 CASRdb_c.801_812del11 CASR:c.801_812del11 CASRdb deletion exon 1 CASRdb_c.80A>G CASR:c.80A>G CASRdb substitution exon 1 CASRdb_c.812C>T CASR:c.812C>T CASRdb substitution exon 1 CASRdb_c.820C>T CASR:c.820C>T CASRdb substitution exon 1 CASRdb_c.848T>C CASR:c.848T>C CASRdb substitution exon 1 CASRdb_c.853C>T CASR:c.853C>T CASRdb substitution exon 1 CASRdb_c.883G>A CASR:c.883G>A CASRdb substitution exon 1 CASRdb_c.887G>A CASR:c.887G>A CASRdb substitution exon 1 CASRdb_c.889G>A CASR:c.889G>A CASRdb substitution exon 1 CASRdb_c.961G>C CASR:c.961G>C CASRdb substitution exon 1 CASRdb_c.967A>T CASR:c.967A>T CASRdb substitution exon 1 HIFD_KRT10:c.467G>A NM_000421(KRT10):c.467G>A HIFD substitution exon 1 HIFD_KRT10:c.482T>C NM_000421(KRT10):c.482T>C HIFD substitution exon 1 HIFD_KRT10:c.467G>C NM_000421(KRT10):c.467G>C HIFD substitution exon 1 HIFD_KRT10:c.466C>A NM_000421(KRT10):c.466C>A HIFD substitution exon 1 HIFD_KRT10:c.466C>T NM_000421(KRT10):c.466C>T HIFD substitution exon 1 HIFD_KRT10:c.460A>C NM_000421(KRT10):c.460A>C HIFD substitution exon 1 HIFD_KRT10:c.478T>G NM_000421(KRT10):c.478T>G HIFD substitution exon 1 HIFD_KRT10:c.1325T>A NM_000421(KRT10):c.1325T>A HIFD substitution exon 1 HIFD_KRT10:c.467G>T NM_000421(KRT10):c.467G>T HIFD substitution exon 1 HIFD_KRT10:c.449T>G NM_000421(KRT10):c.449T>G HIFD substitution exon 1 HIFD_KRT10:c.1315A>G NM_000421(KRT10):c.1315A>G HIFD substitution exon 1 HIFD_KRT10:c.449T>C NM_000421(KRT10):c.449T>C HIFD substitution exon 1 HIFD_KRT10:c.1264_1265delCGinsGA NM_000421(KRT10):c.1264_1265delCGinsGA HIFD complex exon 1 HIFD_KRT10:c.472G>C NM_000421(KRT10):c.472G>C HIFD substitution exon 1 HIFD_KRT10:c.1337T>C NM_000421(KRT10):c.1337T>C HIFD substitution exon 1 HIFD_KRT10:c.479A>C NM_000421(KRT10):c.479A>C HIFD substitution exon 1 HIFD_KRT10:c.1355T>C NM_000421(KRT10):c.1355T>C HIFD substitution exon 1 HIFD_KRT10:c.465_466delCCinsAA NM_000421(KRT10):c.465_466delCCinsAA HIFD complex exon 1 HIFD_KRT10:c.457C>G NM_000421(KRT10):c.457C>G HIFD substitution exon 1 HIFD_KRT10:c.466C>G NM_000421(KRT10):c.466C>G HIFD substitution exon 1 HIFD_KRT10:c.1358T>C NM_000421(KRT10):c.1358T>C HIFD substitution exon 1 HIFD_KRT10:c.481_486delTTGGAC NM_000421(KRT10):c.481_486delTTGGAC HIFD deletion exon 1 HIFD_KRT10:c.1300C>T NM_000421(KRT10):c.1300C>T HIFD substitution exon 1 HIFD_KRT10:c.1281_1282delCCinsAA NM_000421(KRT10):c.1281_1282delCCinsAA HIFD complex exon 1 HIFD_KRT10:c.1340A>C NM_000421(KRT10):c.1340A>C HIFD substitution exon 1 HIFD_KRT10:c.1314_1315insC NM_000421(KRT10):c.1314_1315insC HIFD insertion exon 1 HIFD_KRT10:c.1333G>A NM_000421(KRT10):c.1333G>A HIFD substitution exon 1 HIFD_KRT10:c.1155+5G>A NM_000421(KRT10):c.1155+5G>A HIFD substitution intron 1 HIFD_KRT10:c.1450_1451insC NM_000421(KRT10):c.1450_1451insC HIFD insertion exon 1 HIFD_KRT10:c.1346A>G NM_000421(KRT10):c.1346A>G HIFD substitution exon 1 HIFD_KRT10:c.1560_1561delCG NM_000421(KRT10):c.1560_1561delCG HIFD deletion exon 1 HIFD_KRT10:c.376G>A NM_000421(KRT10):c.376G>A HIFD substitution exon 1 HIFD_KRT10:c.1459C>T NM_000421(KRT10):c.1459T>C HIFD substitution exon 1 HIFD_complex_1 NM_000421(KRT10):c.[1468_1479del12; 1546_1551delGGAAGCinsT] HIFD complex exon 1 HIFD_KRT12:c.427G>C NM_000223(KRT12):c.427G>C HIFD substitution exon 1 HIFD_KRT12:c.404G>C NM_000223(KRT12):c.404G>C HIFD substitution exon 1 HIFD_KRT12:c.403A>G NM_000223(KRT12):c.403A>G HIFD substitution exon 1 HIFD_KRT12:c.404G>T NM_000223(KRT12):c.404G>T HIFD substitution exon 1 HIFD_KRT12:c.419T>G NM_000223(KRT12):c.419T>G HIFD substitution exon 1 HIFD_KRT12:c.1285T>G NM_000223(KRT12):c.1285T>G HIFD substitution exon 1 HIFD_KRT12:c.1276A>G NM_000223(KRT12):c.1276A>G HIFD substitution exon 1 HIFD_KRT12:c.386T>C NM_000223(KRT12):c.386T>C HIFD substitution exon 1 HIFD_KRT12:c.389A>C NM_000223(KRT12):c.389A>C HIFD substitution exon 1 HIFD_KRT12:c.399T>G NM_000223(KRT12):c.399T>G HIFD substitution exon 1 HIFD_KRT12:c.409G>C NM_000223(KRT12):c.409G>C HIFD substitution exon 1 HIFD_KRT12:c.405A>C NM_000223(KRT12):c.405A>C HIFD substitution exon 1 HIFD_KRT12:c.1197_1198ins27 NM_000223(KRT12):c.1197_1198ins27 HIFD insertion exon 1 HIFD_KRT12:c.1286A>G NM_000223(KRT12):c.1286A>G HIFD substitution exon 1 HIFD_KRT12:c.1277T>G NM_000223(KRT12):c.1277T>G HIFD substitution exon 1 HIFD_KRT12:c.1289G>C NM_000223(KRT12):c.1289G>C HIFD substitution exon 1 HIFD_KRT12:c.427G>T NM_000223(KRT12):c.427G>T HIFD substitution exon 1 HIFD_KRT12:c.1298T>G NM_000223(KRT12):c.1298T>G HIFD substitution exon 1 HIFD_KRT12:c.385A>G NM_000223(KRT12):c.385A>G HIFD substitution exon 1 HIFD_KRT13:c.356T>C NM_153490(KRT13):c.356T>C HIFD substitution exon 1 HIFD_KRT13:c.344T>C NM_153490(KRT13):c.344T>C HIFD substitution exon 1 HIFD_KRT13:c.323T>C NM_153490(KRT13):c.323T>C HIFD substitution exon 1 HIFD_KRT13:c.335A>G NM_153490(KRT13):c.335A>G HIFD substitution exon 1 HIFD_KRT13:c.332T>C NM_153490(KRT13):c.332T>C HIFD substitution exon 1 HIFD_KRT13:c.341G>A NM_153490(KRT13):c.341G>A HIFD substitution exon 1 HIFD_KRT14:c.1151T>C NM_000526(KRT14):c.1151T>C HIFD substitution exon 1 HIFD_KRT14:c.373C>T NM_000526(KRT14):c.373C>T HIFD substitution exon 1 HIFD_KRT14:c.374G>A NM_000526(KRT14):c.374G>A HIFD substitution exon 1 HIFD_KRT14:c.808G>A NM_000526(KRT14):c.808G>A HIFD substitution exon 1 HIFD_KRT14:c.1123_1125delGAG NM_000526(KRT14):c.1123_1125delGAG HIFD deletion exon 1 HIFD_KRT14:c.313_314delGC NM_000526(KRT14):c.313_314delGC HIFD deletion exon 1 HIFD_KRT14:c.612T>A NM_000526(KRT14):c.612T>A HIFD substitution exon 1 HIFD_KRT14:c.364C>T NM_000526(KRT14):c.364C>T HIFD substitution exon 1 HIFD_KRT14:c.431A>C NM_000526(KRT14):c.431A>C HIFD substitution exon 1 HIFD_KRT14:c.359A>G NM_000526(KRT14):c.359A>G HIFD substitution exon 1 HIFD_KRT14:c.821C>A NM_000526(KRT14):c.821C>A HIFD substitution exon 1 HIFD_KRT14:c.1130T>A NM_000526(KRT14):c.1130T>A HIFD substitution exon 1 HIFD_KRT14:c.1162C>T NM_000526(KRT14):c.1162C>T HIFD substitution exon 1 HIFD_KRT14:c.815T>G NM_000526(KRT14):c.815T>G HIFD substitution exon 1 HIFD_KRT14:c.385T>G NM_000526(KRT14):c.385T>G HIFD substitution exon 1 HIFD_KRT14:c.526-2A>C NM_000526(KRT14):c.526-2A>C HIFD substitution intron 1 HIFD_KRT14:c.357G>A NM_000526(KRT14):c.357G>A HIFD substitution exon 1 HIFD_KRT14:c.915G>A NM_000526(KRT14):c.915G>A HIFD substitution exon 1 HIFD_KRT14:c.356T>C NM_000526(KRT14):c.356T>C HIFD substitution exon 1 HIFD_KRT14:c.818A>G NM_000526(KRT14):c.818A>G HIFD substitution exon 1 HIFD_KRT14:c.368A>G NM_000526(KRT14):c.368A>G HIFD substitution exon 1 HIFD_KRT14:c.348G>C NM_000526(KRT14):c.348G>C HIFD substitution exon 1 HIFD_KRT14:c.428T>C NM_000526(KRT14):c.428T>C HIFD substitution exon 1 HIFD_KRT14:c.1243T>C NM_000526(KRT14):c.1243T>C HIFD substitution exon 1 HIFD_KRT14:c.1256T>A NM_000526(KRT14):c.1256T>A HIFD substitution exon 1 HIFD_KRT14:c.1264G>A NM_000526(KRT14):c.1264G>A HIFD substitution exon 1 HIFD_KRT14:c.401G>C NM_000526(KRT14):c.401G>C HIFD substitution exon 1 HIFD_KRT14:c.92delT NM_000526(KRT14):c.92delT HIFD deletion exon 1 HIFD_KRT14:c.355A>G NM_000526(KRT14):c.355A>G HIFD substitution exon 1 HIFD_KRT14:c.529_534delCTCACA NM_000526(KRT14):c.529_534delCTCACA HIFD deletion exon 1 HIFD_KRT14:c.528T>G NM_000526(KRT14):c.528T>G HIFD substitution exon 1 HIFD_KRT14:c.1231G>T NM_000526(KRT14):c.1231G>T HIFD substitution exon 1 HIFD_KRT14:c.1237G>A NM_000526(KRT14):c.1237G>A HIFD substitution exon 1 HIFD_KRT14:c.744delCinsAG NM_000526(KRT14):c.744delCinsAG HIFD complex exon 1 HIFD_KRT14:c.442C>T NM_000526(KRT14):c.442C>T HIFD substitution exon 1 HIFD_KRT14:c.1247G>C NM_000526(KRT14):c.1247G>C HIFD substitution exon 1 HIFD_KRT14:c.383_385delCCT NM_000526(KRT14):c.383_385delCCT HIFD deletion exon 1 HIFD_KRT14:c.1222C>A NM_000526(KRT14):c.1222C>A HIFD substitution exon 1 HIFD_KRT14:c.389T>C NM_000526(KRT14):c.389T>C HIFD substitution exon 1 HIFD_KRT14:c.927+1G>A NM_000526(KRT14):c.927+1G>A HIFD substitution intron 1 HIFD_KRT14:c.1244A>G NM_000526(KRT14):c.1244A>G HIFD substitution exon 1 HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] NM_000526(KRT14):c.[1163G>A; =]+[=; 1186C>T] HIFD substitution exon 1 HIFD_KRT14:c.1186C>T NM_000526(KRT14):c.1186C>T HIFD substitution exon 1 HIFD_KRT14:c.242_243insG NM_000526(KRT14):c.242_243insG HIFD insertion exon 1 HIFD_KRT14:c.369T>A NM_000526(KRT14):c.369T>A HIFD substitution exon 1 HIFD_KRT14:c.373C>G NM_000526(KRT14):c.373C>G HIFD substitution exon 1 HIFD_KRT14:c.397G>T NM_000526(KRT14):c.397G>T HIFD substitution exon 1 HIFD_KRT14:c.400C>T NM_000526(KRT14):c.400C>T HIFD substitution exon 1 HIFD_KRT14:c.397G>A NM_000526(KRT14):c.397G>A HIFD substitution exon 1 HIFD_KRT14:c.359A>C NM_000526(KRT14):c.359A>C HIFD substitution exon 1 HIFD_KRT14:c.1246_1246delC NM_000526(KRT14):c.1246_1246delC HIFD deletion exon 1 HIFD_KRT14:c.1163G>A NM_000526(KRT14):c.1163G>A HIFD substitution exon 1 HIFD_KRT14:c.1163G>C NM_000526(KRT14):c.1163G>C HIFD substitution exon 1 HIFD_KRT14:c.399G>T NM_000526(KRT14):c.399G>T HIFD substitution exon 1 HIFD_KRT14:c.632G>C NM_000526(KRT14):c.632G>C HIFD substitution exon 1 HIFD_KRT14:c.815T>C NM_000526(KRT14):c.815T>C HIFD substitution exon 1 HIFD_KRT14:c.1231_1233delGAG NM_000526(KRT14):c.1231_1233delGAG HIFD deletion exon 1 HIFD_KRT14:c.1250G>C NM_000526(KRT14):c.1250G>C HIFD substitution exon 1 HIFD_KRT14:c.1218_1218delG NM_000526(KRT14):c.1218_1218delG HIFD deletion exon 1 HIFD_KRT14:c.427delC NM_000526(KRT14):c.427delC HIFD deletion exon 1 HIFD_KRT14:c.129dupC NM_000526(KRT14):c.129dupC HIFD duplication exon 1 HIFD_KRT14:c.17delG NM_000526(KRT14):c.17delG HIFD deletion exon 1 HIFD_KRT14:c.54C>A NM_000526(KRT14):c.54C>A HIFD substitution exon 1 HIFD_KRT14:c.19C>T NM_000526(KRT14):c.19C>T HIFD substitution exon 1 HIFD_KRT14:c.374G>C NM_000526(KRT14):c.374G>C HIFD substitution exon 1 HIFD_KRT14:c.397G>C NM_000526(KRT14):c.397G>C HIFD substitution exon 1 HIFD_KRT14:c.346A>G NM_000526(KRT14):c.346A>G HIFD substitution exon 1 HIFD_KRT14:c.386A>G NM_000526(KRT14):c.386A>G HIFD substitution exon 1 HIFD_KRT14:c.398T>C NM_000526(KRT14):c.398T>C HIFD substitution exon 1 HIFD_KRT14:c.1130T>C NM_000526(KRT14):c.1130T>C HIFD substitution exon 1 HIFD_KRT14:c.1252C>G NM_000526(KRT14):c.1252C>G HIFD substitution exon 1 HIFD_KRT14:c.407T>A NM_000526(KRT14):c.407T>A HIFD substitution exon 1 HIFD_KRT14:c.1231G>A NM_000526(KRT14):c.1231G>A HIFD substitution exon 1 HIFD_KRT14:c.1235T>A NM_000526(KRT14):c.1235T>A HIFD substitution exon 1 HIFD_KRT14:c.1202T>C NM_000526(KRT14):c.1202T>C HIFD substitution exon 1 HIFD_KRT14:c.374G>T NM_000526(KRT14):c.374G>T HIFD substitution exon 1 HIFD_KRT14:c.1174G>T NM_000526(KRT14):c.1174G>T HIFD substitution exon 1 HIFD_KRT14:c.382T>C NM_000526(KRT14):c.382T>C HIFD substitution exon 1 HIFD_KRT14:c.407T>C NM_000526(KRT14):c.407T>C HIFD substitution exon 1 HIFD_KRT14:c.419A>G NM_000526(KRT14):c.419A>G HIFD substitution exon 1 HIFD_KRT14:c.803T>A NM_000526(KRT14):c.803T>A HIFD substitution exon 1 HIFD_KRT14:c.1141G>A NM_000526(KRT14):c.1141G>A HIFD substitution exon 1 HIFD_KRT14:c.1162C>G NM_000526(KRT14):c.1162C>G HIFD substitution exon 1 HIFD_KRT14:c.1228C>T NM_000526(KRT14):c.1228C>T HIFD substitution exon 1 HIFD_KRT14:c.1117_1158dup42 NM_000526(KRT14):c.1117_1158dup42 HIFD duplication exon 1 HIFD_KRT14:c.1256_1274+163del182insA NM_000526(KRT14):c.1256_1274+163del182insA HIFD complex not within known transcription unit 1 HIFD_KRT14:c.382_384delTCC NM_000526(KRT14):c.382_384delTCC HIFD deletion exon 1 HIFD_KRT14:c.740_748delCCTACCTGAinsGAA NM_000526(KRT14):c.740_748delCCTACCTGAinsGAA HIFD complex exon 1 HIFD_KRT14:c.927+1G>T NM_000526(KRT14):c.927+1G>T HIFD substitution intron 1 HIFD_KRT14:c.1234A>T NM_000526(KRT14):c.1234A>T HIFD substitution exon 1 HIFD_KRT14:c.1240_1249delACCTACCGCC NM_000526(KRT14):c.1240_1249delACCTACCGCC HIFD deletion exon 1 HIFD_KRT14:c.955A>C NM_000526(KRT14):c.955A>C HIFD substitution exon 1 HIFD_KRT14:c.346A>T NM_000526(KRT14):c.346A>T HIFD substitution exon 1 HIFD_KRT14:c.749delA NM_000526(KRT14):c.749delA HIFD deletion exon 1 HIFD_KRT14:c.1237G>C NM_000526(KRT14):c.1237G>C HIFD substitution exon 1 HIFD_KRT16:c.395T>C NM_005557(KRT16):c.395T>C HIFD substitution exon 1 HIFD_KRT16:c.379C>T NM_005557(KRT16):c.379C>T HIFD substitution exon 1 HIFD_KRT16:c.374A>G NM_005557(KRT16):c.374A>G HIFD substitution exon 1 HIFD_KRT16:c.389_391delCCT NM_005557(KRT16):c.389_391delCCT HIFD deletion exon 1 HIFD_KRT16:c.380G>C NM_005557(KRT16):c.380G>C HIFD substitution exon 1 HIFD_KRT16:c.365A>C NM_005557(KRT16):c.365A>C HIFD substitution exon 1 HIFD_KRT16:c.[1244_1266del23]+[1270delG] NM_005557(KRT16):c.[1244_1266del23]+[1270delG] HIFD deletion exon 1 HIFD_KRT16:c.371T>G NM_005557(KRT16):c.371T>G HIFD substitution exon 1 HIFD_KRT16:c.309_320del12 NM_005557(KRT16):c.309_320del12 HIFD deletion exon 1 HIFD_KRT16:c.1062A>T NM_005557(KRT16):c.1062A>T HIFD substitution exon 1 HIFD_KRT16:c.362T>C NM_005557(KRT16):c.362T>C HIFD substitution exon 1 HIFD_KRT16:c.383T>A NM_005557(KRT16):c.383T>A HIFD substitution exon 1 HIFD_KRT16:c.371T>C NM_005557(KRT16):c.371T>C HIFD substitution exon 1 HIFD_KRT16:c.371T>A NM_005557(KRT16):c.371T>A HIFD substitution exon 1 HIFD_KRT16:c.373A>G NM_005557(KRT16):c.373A>G HIFD substitution exon 1 HIFD_KRT16:c.43A>T NM_005557(KRT16):c.43A>T HIFD substitution exon 1 HIFD_KRT16:c.362T>A NM_005557(KRT16):c.362T>A HIFD substitution exon 1 HIFD_KRT16:c.371_373delTCA NM_005557(KRT16):c.371_373delTCA HIFD deletion exon 1 HIFD_KRT16:c.25delA NM_005557(KRT16):c.25delA HIFD deletion exon 1 HIFD_KRT17:c.274A>G NM_000422(KRT17):c.274A>G HIFD substitution exon 1 HIFD_KRT17:c.275A>G NM_000422(KRT17):c.275A>G HIFD substitution exon 1 HIFD_KRT17:c.292T>G NM_000422(KRT17):c.292T>G HIFD substitution exon 1 HIFD_KRT17:c.274A>C NM_000422(KRT17):c.274A>C HIFD substitution exon 1 HIFD_KRT17:c.281G>A NM_000422(KRT17):c.281G>A HIFD substitution exon 1 HIFD_KRT17:c.280C>T NM_000422(KRT17):c.280C>T HIFD substitution exon 1 HIFD_KRT17:c.263T>C NM_000422(KRT17):c.263T>C HIFD substitution exon 1 HIFD_KRT17:c.280_294del15 NM_000422(KRT17):c.280_294del15 HIFD deletion exon 1 HIFD_KRT17:c.281G>C NM_000422(KRT17):c.281G>C HIFD substitution exon 1 HIFD_KRT17:c.284T>A NM_000422(KRT17):c.284T>A HIFD substitution exon 1 HIFD_KRT17:c.304G>A NM_000422(KRT17):c.304G>A HIFD substitution exon 1 HIFD_KRT17:c.289_291delTCC NM_000422(KRT17):c.289_291delTCC HIFD deletion exon 1 HIFD_KRT17:c.284T>C NM_000422(KRT17):c.284T>C HIFD substitution exon 1 HIFD_KRT17:c.296T>C NM_000422(KRT17):c.296T>C HIFD substitution exon 1 HIFD_KRT17:c.325A>G NM_000422(KRT17):c.325A>G HIFD substitution exon 1 HIFD_KRT17:c.1163T>C NM_000422(KRT17):c.1163T>C HIFD substitution exon 1 HIFD_KRT17:c.263T>A NM_000422(KRT17):c.263T>A HIFD substitution exon 1 HIFD_KRT17:c.1112T>C NM_000422(KRT17):c.1112T>C HIFD substitution exon 1 HIFD_KRT17:c.274_297del24 NM_000422(KRT17):c.274_297del24 HIFD deletion exon 1 HIFD_KRT17:c.295_303delCTGGACAAG NM_000422(KRT17):c.295_303delCTGGACAAG HIFD deletion exon 1 HIFD_KRT17:c.287_298del12 NM_000422(KRT17):c.287_298del12 HIFD deletion exon 1 HIFD_KRT18:c.383A>T NM_000224(KRT18):c.383A>T HIFD substitution exon 1 HIFD_KRT18:c.307A>G NM_000224(KRT18):c.307A>G HIFD substitution exon 1 HIFD_KRT18:c.782G>A NM_000224(KRT18):c.782G>A HIFD substitution exon 1 HIFD_KRT18:c.1018G>A NM_000224(KRT18):c.1018G>A HIFD substitution exon 1 HIFD_KRT18:c.193_216del24 NM_000224(KRT18):c.193_216del24 HIFD deletion exon 1 HIFD_KRT18:c.448A>G NM_000224(KRT18):c.448A>G HIFD substitution exon 1 HIFD_KRT18:c.827A>G NM_000224(KRT18):c.827A>G HIFD substitution exon 1 HIFD_KRT18:c.854A>G NM_000224(KRT18):c.854A>G HIFD substitution exon 1 HIFD_KRT18:c.884C>T NM_000224(KRT18):c.884C>T HIFD substitution exon 1 HIFD_KRT18:c.890C>T NM_000224(KRT18):c.890C>T HIFD substitution exon 1 HIFD_KRT18:c.1232G>A NM_000224(KRT18):c.1232G>A HIFD substitution exon 1 HIFD_KRT19:c.49G>A NM_002276(KRT19):c.49G>A HIFD substitution exon 1 HIFD_KRT9:c.481A>T NM_000226(KRT9):c.481A>T HIFD substitution exon 1 HIFD_KRT9:c.483T>A NM_000226(KRT9):c.483T>A HIFD substitution exon 1 HIFD_KRT9:c.487C>T NM_000226(KRT9):c.487C>T HIFD substitution exon 1 HIFD_KRT9:c.488G>A NM_000226(KRT9):c.488G>A HIFD substitution exon 1 HIFD_KRT9:c.469A>G NM_000226(KRT9):c.469A>G HIFD substitution exon 1 HIFD_KRT9:c.515A>C NM_000226(KRT9):c.515A>C HIFD substitution exon 1 HIFD_KRT9:c.482A>G NM_000226(KRT9):c.482A>G HIFD substitution exon 1 HIFD_KRT9:c.503T>C NM_000226(KRT9):c.503T>C HIFD substitution exon 1 HIFD_KRT9:c.478C>G NM_000226(KRT9):c.478C>G HIFD substitution exon 1 HIFD_KRT9:c.470T>C NM_000226(KRT9):c.470T>C HIFD substitution exon 1 HIFD_KRT9:c.1362_1363insCAC NM_000226(KRT9):c.1362_1363insCAC HIFD insertion exon 1 HIFD_KRT9:c.508A>T NM_000226(KRT9):c.508A>T HIFD substitution exon 1 HIFD_KRT9:c.511G>A NM_000226(KRT9):c.511G>A HIFD substitution exon 1 HIFD_KRT9:c.482A>T NM_000226(KRT9):c.482A>T HIFD substitution exon 1 HIFD_KRT9:c.478C>T NM_000226(KRT9):c.478C>T HIFD substitution exon 1 HIFD_KRT9:c.481A>C NM_000226(KRT9):c.481A>C HIFD substitution exon 1 HIFD_KRT9:c.500_500delAinsGGCT NM_000226(KRT9):c.500_500delAinsGGCT HIFD complex exon 1 HIFD_KRT9:c.488G>C NM_000226(KRT9):c.488G>C HIFD substitution exon 1 HIFD_KRT9:c.500delAinsGGCT NM_000226(KRT9):c.500delAinsGGCT HIFD complex exon 1 HIFD_KRT9:c.470T>G NM_000226(KRT9):c.470T>G HIFD substitution exon 1 HIFD_KRT9:c.1372C>T NM_000226(KRT9):c.1372C>T HIFD substitution exon 1 HIFD_KRT9:c.484C>T NM_000226(KRT9):c.484T>C HIFD substitution exon 1 HIFD_KRT9:c.470T>A NM_000226(KRT9):c.470T>A HIFD substitution exon 1 HIFD_KRT9:c.1360T>C NM_000226(KRT9):c.1360T>C HIFD substitution exon 1 HIFD_KRT9:c.1216T>C NM_000226(KRT9):c.1216T>C HIFD substitution exon 1 HIFD_KRT1:c.1468G>C NM_006121(KRT1):c.1468G>C HIFD substitution exon 1 HIFD_KRT1:c.482T>C NM_006121(KRT1):c.482T>C HIFD substitution exon 1 HIFD_KRT1:c.563A>G NM_006121(KRT1):c.563A>G HIFD substitution exon 1 HIFD_KRT1:c.577T>C NM_006121(KRT1):c.577T>C HIFD substitution exon 1 HIFD_KRT1:c.464T>G NM_006121(KRT1):c.464T>G HIFD substitution exon 1 HIFD_KRT1:c.556T>C NM_006121(KRT1):c.556T>C HIFD substitution exon 1 HIFD_KRT1:c.1445A>G NM_006121(KRT1):c.1445A>G HIFD substitution exon 1 HIFD_KRT1:c.221A>T NM_006121(KRT1):c.221A>T HIFD substitution exon 1 HIFD_KRT1:c.536G>C NM_006121(KRT1):c.536G>C HIFD substitution exon 1 HIFD_KRT1:c.1019A>T NM_006121(KRT1):c.1019A>T HIFD substitution exon 1 HIFD_KRT1:c.1436T>C NM_006121(KRT1):c.1436T>C HIFD substitution exon 1 HIFD_KRT1:c.1435A>T NM_006121(KRT1):c.1435A>T HIFD substitution exon 1 HIFD_KRT1:c.1434G>T NM_006121(KRT1):c.1434G>T HIFD substitution exon 1 HIFD_KRT1:c.563A>C NM_006121(KRT1):c.563A>C HIFD substitution exon 1 HIFD_KRT1:c.641T>C NM_006121(KRT1):c.641T>C HIFD substitution exon 1 HIFD_KRT1:c.1609_1610delGGinsA NM_006121(KRT1):c.1609_1610delGGinsA HIFD complex exon 1 HIFD_KRT1:c.1254+1G>A NM_006121(KRT1):c.1254+1G>A HIFD substitution intron 1 HIFD_KRT1:c.464T>A NM_006121(KRT1):c.464T>A HIFD substitution exon 1 HIFD_KRT1:c.531G>T NM_006121(KRT1):c.531G>T HIFD substitution exon 1 HIFD_KRT1:c.573T>G NM_006121(KRT1):c.573T>G HIFD substitution exon 1 HIFD_KRT1:c.591+1G>C NM_006121(KRT1):c.591+1G>C HIFD substitution intron 1 HIFD_KRT1:c.591+1G>A NM_006121(KRT1):c.591+1G>A HIFD substitution intron 1 HIFD_KRT1:c.502_513del12 NM_006121(KRT1):c.502_513del12 HIFD deletion exon 1 HIFD_KRT1:c.1628delG NM_006121(KRT1):c.1628delG HIFD deletion exon 1 HIFD_KRT1:c.1432G>A NM_006121(KRT1):c.1432G>A HIFD substitution exon 1 HIFD_KRT1:c.591+2T>A NM_006121(KRT1):c.591+2T>A HIFD substitution intron 1 HIFD_KRT1:c.1376_1399del24 NM_006121(KRT1):c.1376_1399del24 HIFD deletion exon 1 HIFD_KRT1:c.564C>A NM_006121(KRT1):c.564C>A HIFD substitution exon 1 HIFD_KRT1:c.1457T>C NM_006121(KRT1):c.1457T>C HIFD substitution exon 1 HIFD_KRT1:c.1751_1752insG NM_006121(KRT1):c.1751_1752insG HIFD insertion exon 1 HIFD_KRT1:c.572T>G NM_006121(KRT1):c.572T>G HIFD substitution exon 1 HIFD_KRT1:c.508_519del12 NM_006121(KRT1):c.508_519del12 HIFD deletion exon 1 HIFD_KRT1:c.591+3_591+6delGAGT NM_006121(KRT1):c.591+3_591+6delGAGT HIFD deletion intron 1 HIFD_KRT1:c.1441A>C NM_006121(KRT1):c.1441A>C HIFD substitution exon 1 HIFD_KRT1:c.559C>T NM_006121(KRT1):c.559C>T HIFD substitution exon 1 HIFD_KRT1:c.1556_1556delG NM_006121(KRT1):c.1556_1556delG HIFD deletion exon 1 HIFD_KRT1:c.698C>T NM_006121(KRT1):c.698C>T HIFD substitution exon 1 HIFD_KRT1:c.1469A>G NM_006121(KRT1):c.1469A>G HIFD substitution exon 1 HIFD_KRT1:c.623T>C NM_006121(KRT1):c.623T>C HIFD substitution exon 1 HIFD_KRT1:c.571T>A NM_006121(KRT1):c.571T>A HIFD substitution exon 1 HIFD_KRT1:c.1465G>A NM_006121(KRT1):c.1465G>A HIFD substitution exon 1 HIFD_KRT1:c.1019A>G NM_006121(KRT1):c.1019A>G HIFD substitution exon 1 HIFD_KRT1:c.1310T>C NM_006121(KRT1):c.1310T>C HIFD substitution exon 1 HIFD_KRT1:c.693T>G NM_006121(KRT1):c.693T>G HIFD substitution exon 1 HIFD_KRT1:c.1457T>G NM_006121(KRT1):c.1457T>G HIFD substitution exon 1 HIFD_KRT1:c.1432G>C NM_006121(KRT1):c.1432G>C HIFD substitution exon 1 HIFD_KRT1:c.1454T>C NM_006121(KRT1):c.1454T>C HIFD substitution exon 1 HIFD_KRT1:c.1468G>A NM_006121(KRT1):c.1468G>A HIFD substitution exon 1 HIFD_KRT1:c.1861_1861insT NM_006121(KRT1):c.1861_1861insT HIFD insertion exon 1 HIFD_KRT2:c.1459G>A NM_000423(KRT2):c.1459G>A HIFD substitution exon 1 HIFD_KRT2:c.1461G>T NM_000423(KRT2):c.1461G>T HIFD substitution exon 1 HIFD_KRT2:c.542A>T NM_000423(KRT2):c.542A>T HIFD substitution exon 1 HIFD_KRT2:c.1451T>C NM_000423(KRT2):c.1451T>C HIFD substitution exon 1 HIFD_KRT2:c.1462G>A NM_000423(KRT2):c.1462G>A HIFD substitution exon 1 HIFD_KRT2:c.1435A>C NM_000423(KRT2):c.1435A>C HIFD substitution exon 1 HIFD_KRT2:c.1426G>A NM_000423(KRT2):c.1426G>A HIFD substitution exon 1 HIFD_KRT2:c.556A>T NM_000423(KRT2):c.556A>T HIFD substitution exon 1 HIFD_KRT2:c.545T>A NM_000423(KRT2):c.545T>A HIFD substitution exon 1 HIFD_KRT2:c.1427A>T NM_000423(KRT2):c.1427A>T HIFD substitution exon 1 HIFD_KRT2:c.607A>G NM_000423(KRT2):c.607A>G HIFD substitution exon 1 HIFD_KRT2:c.1448T>A NM_000423(KRT2):c.1448T>A HIFD substitution exon 1 HIFD_KRT2:c.558C>A NM_000423(KRT2):c.558C>A HIFD substitution exon 1 HIFD_KRT2:c.532G>A NM_000423(KRT2):c.532G>A HIFD substitution exon 1 HIFD_KRT3:c.1525G>A NM_057088(KRT3):c.1525G>A HIFD substitution exon 1 HIFD_KRT3:c.1508G>C NM_057088(KRT3):c.1508G>C HIFD substitution exon 1 HIFD_KRT3:c.1493A>T NM_057088(KRT3):c.1493A>T HIFD substitution exon 1 HIFD_KRT4:c.657_659delCAA NM_002272(KRT4):c.657_659delCAA HIFD deletion exon 1 HIFD_KRT4:c.638_639insACA NM_002272(KRT4):c.638_639insACA HIFD insertion exon 1 HIFD_KRT4:c.1525G>A NM_002272(KRT4):c.1525G>A HIFD substitution exon 1 HIFD_KRT4:c.*269A>G NM_002272(KRT4):c.*269A>G HIFD substitution 3' UTR 1 HIFD_KRT4:c.1558G>A NM_002272(KRT4):c.1558G>A HIFD substitution exon 1 HIFD_KRT5:c.1424A>G NM_000424(KRT5):c.1424A>G HIFD substitution exon 1 HIFD_KRT5:c.991C>T NM_000424(KRT5):c.991C>T HIFD substitution exon 1 HIFD_KRT5:c.980T>C NM_000424(KRT5):c.980T>C HIFD substitution exon 1 HIFD_KRT5:c.987C>A NM_000424(KRT5):c.987C>A HIFD substitution exon 1 HIFD_KRT5:c.519G>C NM_000424(KRT5):c.519G>C HIFD substitution exon 1 HIFD_KRT5:c.482T>G NM_000424(KRT5):c.482T>G HIFD substitution exon 1 HIFD_KRT5:c.1388T>C NM_000424(KRT5):c.1388T>C HIFD substitution exon 1 HIFD_KRT5:c.983A>T NM_000424(KRT5):c.983A>T HIFD substitution exon 1 HIFD_KRT5:c.523C>T NM_000424(KRT5):c.523C>T HIFD substitution exon 1 HIFD_KRT5:c.74C>T NM_000424(KRT5):c.74C>T HIFD substitution exon 1 HIFD_KRT5:c.579C>G NM_000424(KRT5):c.579C>G HIFD substitution exon 1 HIFD_KRT5:c.1429G>A NM_000424(KRT5):c.1429G>A HIFD substitution exon 1 HIFD_KRT5:c.536T>C NM_000424(KRT5):c.536T>C HIFD substitution exon 1 HIFD_KRT5:c.527A>G NM_000424(KRT5):c.527A>G HIFD substitution exon 1 HIFD_KRT5:c.1400T>C NM_000424(KRT5):c.1400T>C HIFD substitution exon 1 HIFD_KRT5:c.968T>C NM_000424(KRT5):c.968T>C HIFD substitution exon 1 HIFD_KRT5:c.980T>A NM_000424(KRT5):c.980T>A HIFD substitution exon 1 HIFD_KRT5:c.455C>T NM_000424(KRT5):c.455C>T HIFD substitution exon 1 HIFD_KRT5:c.982G>C NM_000424(KRT5):c.982G>C HIFD substitution exon 1 HIFD_KRT5:c.974T>C NM_000424(KRT5):c.974T>C HIFD substitution exon 1 HIFD_KRT5:c.490_555del66 NM_000424(KRT5):c.490_555del66 HIFD deletion exon 1 HIFD_KRT5:c.1429G>T NM_000424(KRT5):c.1429G>T HIFD substitution exon 1 HIFD_KRT5:c.541T>C NM_000424(KRT5):c.541T>C HIFD substitution exon 1 HIFD_KRT5:c.984C>A NM_000424(KRT5):c.984C>A HIFD substitution exon 1 HIFD_KRT5:c.556G>T NM_000424(KRT5):c.556G>T HIFD substitution exon 1 HIFD_KRT5:c.1414A>T NM_000424(KRT5):c.1414A>T HIFD substitution exon 1 HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] NM_000424(KRT5):c.[508G>C; =]+[=; 1252G>A] HIFD substitution exon 1 HIFD_KRT5:c.1635_1635delG NM_000424(KRT5):c.1635_1635delG HIFD deletion exon 1 HIFD_KRT5:c.1210A>G NM_000424(KRT5):c.1210A>G HIFD substitution exon 1 HIFD_KRT5:c.1313C>A NM_000424(KRT5):c.1313C>A HIFD substitution exon 1 HIFD_KRT5:c.1423G>A NM_000424(KRT5):c.1423G>A HIFD substitution exon 1 HIFD_KRT5:c.556-1G>C NM_000424(KRT5):c.556-1G>C HIFD substitution intron 1 HIFD_KRT5:c.932T>G NM_000424(KRT5):c.932T>G HIFD substitution exon 1 HIFD_KRT5:c.499G>A NM_000424(KRT5):c.499G>A HIFD substitution exon 1 HIFD_KRT5:c.971T>A NM_000424(KRT5):c.971T>A HIFD substitution exon 1 HIFD_KRT5:c.547A>T NM_000424(KRT5):c.547A>T HIFD substitution exon 1 HIFD_KRT5:c.1649_1649delG NM_000424(KRT5):c.1649_1649delG HIFD deletion exon 1 HIFD_KRT5:c.596A>C NM_000424(KRT5):c.596A>C HIFD substitution exon 1 HIFD_KRT5:c.530A>G NM_000424(KRT5):c.530A>G HIFD substitution exon 1 HIFD_KRT5:c.983A>G NM_000424(KRT5):c.983A>G HIFD substitution exon 1 HIFD_KRT5:c.539C>A NM_000424(KRT5):c.539C>A HIFD substitution exon 1 HIFD_KRT5:c.1430A>G NM_000424(KRT5):c.1430A>G HIFD substitution exon 1 HIFD_KRT5:c.1285_1299del15 NM_000424(KRT5):c.1285_1299del15 HIFD deletion exon 1 HIFD_KRT5:c.1649delG NM_000424(KRT5):c.1649delG HIFD deletion exon 1 HIFD_KRT5:c.547_549delATC NM_000424(KRT5):c.547_549delATC HIFD deletion exon 1 HIFD_KRT5:c.1401C>G NM_000424(KRT5):c.1401C>G HIFD substitution exon 1 HIFD_KRT5:c.14C>A NM_000424(KRT5):c.14C>A HIFD substitution exon 1 HIFD_KRT5:c.418dupA NM_000424(KRT5):c.418dupA HIFD duplication exon 1 HIFD_KRT5:c.1427G>C NM_000424(KRT5):c.1427G>C HIFD substitution exon 1 HIFD_KRT5:c.596A>G NM_000424(KRT5):c.596A>G HIFD substitution exon 1 HIFD_KRT5:c.502G>A NM_000424(KRT5):c.502G>A HIFD substitution exon 1 HIFD_KRT5:c.506G>C NM_000424(KRT5):c.506G>C HIFD substitution exon 1 HIFD_KRT5:c.568G>A NM_000424(KRT5):c.568G>A HIFD substitution exon 1 HIFD_KRT5:c.992G>A NM_000424(KRT5):c.992G>A HIFD substitution exon 1 HIFD_KRT5:c.1405A>C NM_000424(KRT5):c.1405A>C HIFD substitution exon 1 HIFD_KRT5:c.508G>A NM_000424(KRT5):c.508G>A HIFD substitution exon 1 HIFD_KRT5:c.442_443delAG NM_000424(KRT5):c.442_443delAG HIFD deletion exon 1 HIFD_KRT5:c.473A>T NM_000424(KRT5):c.473A>T HIFD substitution exon 1 HIFD_KRT5:c.428T>A NM_000424(KRT5):c.428T>A HIFD substitution exon 1 HIFD_KRT5:c.572A>C NM_000424(KRT5):c.572A>C HIFD substitution exon 1 HIFD_KRT5:c.556G>A NM_000424(KRT5):c.556G>A HIFD substitution exon 1 HIFD_KRT5:c.1550G>A NM_000424(KRT5):c.1550G>A HIFD substitution exon 1 HIFD_KRT5:c.1054C>A NM_000424(KRT5):c.1054C>A HIFD substitution exon 1 HIFD_KRT5:c.579C>T NM_000424(KRT5):c.579C>T HIFD substitution exon 1 HIFD_KRT5:c.509A>G NM_000424(KRT5):c.509A>G HIFD substitution exon 1 HIFD_KRT5:c.986A>G NM_000424(KRT5):c.986A>G HIFD substitution exon 1 HIFD_KRT5:c.1283C>T NM_000424(KRT5):c.1283C>T HIFD substitution exon 1 HIFD_KRT5:c.1399A>C NM_000424(KRT5):c.1399A>C HIFD substitution exon 1 HIFD_KRT5:c.449T>C NM_000424(KRT5):c.449T>C HIFD substitution exon 1 HIFD_KRT5:c.1398G>C NM_000424(KRT5):c.1398G>C HIFD substitution exon 1 HIFD_KRT5:c.593C>G NM_000424(KRT5):c.593C>G HIFD substitution exon 1 HIFD_KRT5:c.489G>T NM_000424(KRT5):c.489G>T HIFD substitution exon 1 HIFD_KRT5:c.547A>G NM_000424(KRT5):c.547A>G HIFD substitution exon 1 HIFD_KRT5:c.570G>C NM_000424(KRT5):c.570G>C HIFD substitution exon 1 HIFD_KRT5:c.991C>G NM_000424(KRT5):c.991C>G HIFD substitution exon 1 HIFD_KRT5:c.971T>C NM_000424(KRT5):c.971T>C HIFD substitution exon 1 HIFD_KRT5:c.1432G>A NM_000424(KRT5):c.1432G>A HIFD substitution exon 1 HIFD_KRT5:c.596A>T NM_000424(KRT5):c.596A>T HIFD substitution exon 1 HIFD_KRT5:c.427G>T NM_000424(KRT5):c.427G>T HIFD substitution exon 1 HIFD_KRT5:c.794G>C NM_000424(KRT5):c.794G>C HIFD substitution exon 1 HIFD_KRT5:c.1437delC NM_000424(KRT5):c.1437delC HIFD deletion exon 1 HIFD_KRT5:c.531_533delTAA NM_000424(KRT5):c.531_533delTAA HIFD deletion exon 1 HIFD_KRT5:c.1730T>A NM_000424(KRT5):c.1730T>A HIFD substitution exon 1 HIFD_KRT5:c.549C>G NM_000424(KRT5):c.549C>G HIFD substitution exon 1 HIFD_KRT5:c.428T>C NM_000424(KRT5):c.428T>C HIFD substitution exon 1 HIFD_KRT5:c.2T>C NM_000424(KRT5):c.2T>C HIFD substitution exon 1 HIFD_KRT5:c.514A>G NM_000424(KRT5):c.514A>G HIFD substitution exon 1 HIFD_KRT5:c.991C>A NM_000424(KRT5):c.991C>A HIFD substitution exon 1 HIFD_KRT5:c.1438A>G NM_000424(KRT5):c.1438A>G HIFD substitution exon 1 HIFD_KRT5:c.1636C>A NM_000424(KRT5):c.1636C>A HIFD substitution exon 1 HIFD_KRT5:c.579C>A NM_000424(KRT5):c.579C>A HIFD substitution exon 1 HIFD_KRT5:c.413G>A NM_000424(KRT5):c.413G>A HIFD substitution exon 1 HIFD_KRT5:c.[418dupA]+[982G>C] NM_000424(KRT5):c.[418dupA]+[982G>C] HIFD complex exon 1 HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA NM_000424(KRT5):c.1362_1365delGGAGinsAGCTGGTA HIFD complex exon 1 HIFD_KRT5:c.1411C>T NM_000424(KRT5):c.1411C>T HIFD substitution exon 1 HIFD_KRT5:c.1427G>A NM_000424(KRT5):c.1427G>A HIFD substitution exon 1 HIFD_KRT5:c.446T>C NM_000424(KRT5):c.446T>C HIFD substitution exon 1 HIFD_KRT5:c.451A>C NM_000424(KRT5):c.451A>C HIFD substitution exon 1 HIFD_KRT5:c.538G>C NM_000424(KRT5):c.538G>C HIFD substitution exon 1 HIFD_KRT5:c.560G>C NM_000424(KRT5):c.560G>C HIFD substitution exon 1 HIFD_KRT5:c.1329G>C NM_000424(KRT5):c.1329G>C HIFD substitution exon 1 HIFD_KRT5:c.1474+4A>G NM_000424(KRT5):c.1474+4A>G HIFD substitution intron 1 HIFD_KRT5:c.1635delG NM_000424(KRT5):c.1635delG HIFD deletion exon 1 HIFD_KRT5:c.10C>T NM_000424(KRT5):c.10C>T HIFD substitution exon 1 HIFD_KRT5:c.495G>T NM_000424(KRT5):c.495G>T HIFD substitution exon 1 HIFD_KRT5:c.557T>A NM_000424(KRT5):c.557T>A HIFD substitution exon 1 HIFD_KRT5:c.1282G>A NM_000424(KRT5):c.1282G>A HIFD substitution exon 1 HIFD_KRT6A:c.514_516delAAC NM_005554(KRT6A):c.514_516delAAC HIFD deletion exon 1 HIFD_KRT6A:c.521T>C NM_005554(KRT6A):c.521T>C HIFD substitution exon 1 HIFD_KRT6A:c.513C>A NM_005554(KRT6A):c.513C>A HIFD substitution exon 1 HIFD_KRT6A:c.520T>G NM_005554(KRT6A):c.520T>G HIFD substitution exon 1 HIFD_KRT6A:c.1406T>G NM_005554(KRT6A):c.1406T>G HIFD substitution exon 1 HIFD_KRT6A:c.1414G>A NM_005554(KRT6A):c.1414G>A HIFD substitution exon 1 HIFD_KRT6A:c.1385T>G NM_005554(KRT6A):c.1385T>G HIFD substitution exon 1 HIFD_KRT6A:c.1390A>C NM_005554(KRT6A):c.1390A>C HIFD substitution exon 1 HIFD_KRT6A:c.500T>A NM_005554(KRT6A):c.500T>A HIFD substitution exon 1 HIFD_KRT6A:c.508C>T NM_005554(KRT6A):c.508C>T HIFD substitution exon 1 HIFD_KRT6A:c.512A>G NM_005554(KRT6A):c.512A>G HIFD substitution exon 1 HIFD_KRT6A:c.526T>C NM_005554(KRT6A):c.526T>C HIFD substitution exon 1 HIFD_KRT6A:c.1385T>A NM_005554(KRT6A):c.1385T>A HIFD substitution exon 1 HIFD_KRT6A:c.1403T>C NM_005554(KRT6A):c.1403T>C HIFD substitution exon 1 HIFD_KRT6A:c.1406T>C NM_005554(KRT6A):c.1406T>C HIFD substitution exon 1 HIFD_KRT6A:c.1410_1411ins117 NM_005554(KRT6A):c.1410_1411ins117 HIFD insertion exon 1 HIFD_KRT6A:c.491G>C NM_005554(KRT6A):c.491G>C HIFD substitution exon 1 HIFD_KRT6A:c.511A>G NM_005554(KRT6A):c.511A>G HIFD substitution exon 1 HIFD_KRT6A:c.1403T>A NM_005554(KRT6A):c.1403T>A HIFD substitution exon 1 HIFD_KRT6A:c.511A>T NM_005554(KRT6A):c.511A>T HIFD substitution exon 1 HIFD_KRT6A:c.521T>G NM_005554(KRT6A):c.521T>G HIFD substitution exon 1 HIFD_KRT6A:c.497A>C NM_005554(KRT6A):c.497A>C HIFD substitution exon 1 HIFD_KRT6A:c.533T>A NM_005554(KRT6A):c.533T>A HIFD substitution exon 1 HIFD_KRT6A:c.1387G>C NM_005554(KRT6A):c.1387G>C HIFD substitution exon 1 HIFD_KRT6A:c.1393T>C NM_005554(KRT6A):c.1393T>C HIFD substitution exon 1 HIFD_KRT6A:c.487G>A NM_005554(KRT6A):c.487G>A HIFD substitution exon 1 HIFD_KRT6A:c.500T>G NM_005554(KRT6A):c.500T>G HIFD substitution exon 1 HIFD_KRT6A:c.512A>C NM_005554(KRT6A):c.512A>C HIFD substitution exon 1 HIFD_KRT6A:c.541-1G>C NM_005554(KRT6A):c.541-1G>C HIFD substitution intron 1 HIFD_KRT6A:c.541-1G>T NM_005554(KRT6A):c.541-1G>T HIFD substitution intron 1 HIFD_KRT6A:c.541-2A>C NM_005554(KRT6A):c.541-2A>C HIFD substitution intron 1 HIFD_KRT6A:c.541-2A>G NM_005554(KRT6A):c.541-2A>G HIFD substitution intron 1 HIFD_KRT6A:c.1303C>T NM_005554(KRT6A):c.1303C>T HIFD substitution exon 1 HIFD_KRT6A:c.1381G>A NM_005554(KRT6A):c.1381G>A HIFD substitution exon 1 HIFD_KRT6A:c.1381G>C NM_005554(KRT6A):c.1381G>C HIFD substitution exon 1 HIFD_KRT6A:c.1394A>G NM_005554(KRT6A):c.1394A>G HIFD substitution exon 1 HIFD_KRT6A:c.1416G>C NM_005554(KRT6A):c.1416G>C HIFD substitution exon 1 HIFD_KRT6A:c.1511_1512insG NM_005554(KRT6A):c.1511_1512insG HIFD insertion exon 1 HIFD_KRT6B:c.1414G>A NM_005555(KRT6B):c.1414G>A HIFD substitution exon 1 HIFD_KRT6B:c.516_518delCAA NM_005555(KRT6B):c.516_518delCAA HIFD deletion exon 1 HIFD_KRT6B:c.1381G>A NM_005555(KRT6B):c.1381G>A HIFD substitution exon 1 HIFD_KRT6C:c.513_515delCAA NM_173086(KRT6C):c.513_515delCAA HIFD deletion exon 1 HIFD_KRT6C:c.1384_1410del27 NM_173086(KRT6C):c.1384_1410del27 HIFD deletion exon 1 HIFD_KRT74:c.444C>G NM_175053(KRT74):c.444C>G HIFD substitution exon 1 HIFD_KRT74:c.1444G>A NM_175053(KRT74):c.1444G>A HIFD substitution exon 1 HIFD_KRT74:c.1391-1G>A NM_175053(KRT74):c.1391-1G>A HIFD substitution intron 1 HIFD_KRT8:c.160T>C NM_002273(KRT8):c.160T>C HIFD substitution exon 1 HIFD_KRT8:c.184G>T NM_002273(KRT8):c.184G>T HIFD substitution exon 1 HIFD_KRT8:c.158G>T NM_002273(KRT8):c.158G>T HIFD substitution exon 1 HIFD_KRT8:c.187A>G NM_002273(KRT8):c.187A>G HIFD substitution exon 1 HIFD_KRT8:c.1392G>T NM_002273(KRT8):c.1392G>T HIFD substitution exon 1 HIFD_KRT8:c.1022G>A NM_002273(KRT8):c.1022G>A HIFD substitution exon 1 HIFD_KRT8:c.1300G>A NM_002273(KRT8):c.1300G>A HIFD substitution exon 1 HIFD_KRT8:c.1360C>T NM_002273(KRT8):c.1360C>T HIFD substitution exon 1 HIFD_KRT8:c.1399_1399insC NM_002273(KRT8):c.1399_1399insC HIFD insertion exon 1 HIFD_KRT8:c.1128G>A NM_002273(KRT8):c.1128G>A HIFD substitution exon 1 HIFD_KRT8:c.1138G>A NM_002273(KRT8):c.1138G>A HIFD substitution exon 1 HIFD_KRT8:c.77C>G NM_002273(KRT8):c.77C>G HIFD substitution exon 1 HIFD_KRT8:c.164G>C NM_002273(KRT8):c.164G>C HIFD substitution exon 1 HIFD_KRT8:c.1021C>T NM_002273(KRT8):c.1021C>T HIFD substitution exon 1 HIFD_KRT8:c.1202+46A>T NM_002273(KRT8):c.1202+46A>T HIFD substitution intron 1 HIFD_KRT81:c.1204G>A NM_002281(KRT81):c.1204G>A HIFD substitution exon 1 HIFD_KRT81:c.1237G>A NM_002281(KRT81):c.1237G>A HIFD substitution exon 1 HIFD_KRT83:c.1219G>A NM_002282(KRT83):c.1219G>A HIFD substitution exon 1 HIFD_KRT85:c.233G>A NM_002283(KRT85):c.233G>A HIFD substitution exon 1 HIFD_KRT86:c.1239G>T NM_002284(KRT86):c.1239G>T HIFD substitution exon 1 HIFD_KRT86:c.1237G>A NM_002284(KRT86):c.1237G>A HIFD substitution exon 1 HIFD_KRT86:c.1204G>A NM_002284(KRT86):c.1204G>A HIFD substitution exon 1 HIFD_KRT86:c.340A>G NM_002284(KRT86):c.340A>G HIFD substitution exon 1 HIFD_KRT86:c.340A>C NM_002284(KRT86):c.340A>C HIFD substitution exon 1 HIFD_KRT86:c.1204G>C NM_002284(KRT86):c.1204G>C HIFD substitution exon 1 HIFD_KRT86:c.353C>A NM_002284(KRT86):c.353C>A HIFD substitution exon 1 HIFD_DES:c.1009G>C NM_001927(DES):c.1009G>C HIFD substitution exon 1 HIFD_DES:c.[1078G>C; 1178A>T] NM_001927(DES):c.[1078G>C; 1178A>T] HIFD substitution exon 1 HIFD_DES:c.517_537del21 NM_001927(DES):c.517_537del21 HIFD deletion exon 1 HIFD_DES:c.1353C>G NM_001927(DES):c.1353C>G HIFD substitution exon 1 HIFD_DES:c.1034T>C NM_001927(DES):c.1034T>C HIFD substitution exon 1 HIFD_DES:c.1024A>G NM_001927(DES):c.1024A>G HIFD substitution exon 1 HIFD_DES:c.1216C>T NM_001927(DES):c.1216C>T HIFD substitution exon 1 HIFD_DES:c.735+3A>G NM_001927(DES):c.735+3A>G HIFD substitution intron 1 HIFD_DES:c.1154T>C NM_001927(DES):c.1154T>C HIFD substitution exon 1 HIFD_DES:c.640-1G>A NM_001927(DES):c.640-1G>A HIFD substitution intron 1 HIFD_DES:c.1166A>C NM_001927(DES):c.1166A>C HIFD substitution exon 1 HIFD_DES:c.720_721insA NM_001927(DES):c.720_721insA HIFD insertion exon 1 HIFD_DES:c.1069G>C NM_001927(DES):c.1069G>C HIFD substitution exon 1 HIFD_DES:c.1109T>C NM_001927(DES):c.1109T>C HIFD substitution exon 1 HIFD_DES:c.1075_1083delGAGGCCAGT NM_001927(DES):c.1075_1083delGAGGCCAGT HIFD deletion exon 1 HIFD_DES:c.1096_1098delAAC NM_001927(DES):c.1096_1098delAAC HIFD deletion exon 1 HIFD_DES:c.5G>T NM_001927(DES):c.5G>T HIFD substitution exon 1 HIFD_DES:c.137C>T NM_001927(DES):c.137C>T HIFD substitution exon 1 HIFD_DES:c.137C>A NM_001927(DES):c.137C>A HIFD substitution exon 1 HIFD_DES:c.1346A>C NM_001927(DES):c.1346A>C HIFD substitution exon 1 HIFD_DES:c.735G>C NM_001927(DES):c.735G>C HIFD substitution exon 1 HIFD_DES:c.1049G>C NM_001927(DES):c.1049G>C HIFD substitution exon 1 HIFD_DES:c.1064G>C NM_001927(DES):c.1064G>C HIFD substitution exon 1 HIFD_DES:c.1405G>A NM_001927(DES):c.1405G>A HIFD substitution exon 1 HIFD_DES:c.1237G>A NM_001927(DES):c.1237G>A HIFD substitution exon 1 HIFD_DES:c.1126C>T NM_001927(DES):c.1126C>T HIFD substitution exon 1 HIFD_DES:c.46C>T NM_001927(DES):c.46C>T HIFD substitution exon 1 HIFD_DES:c.1358C>T NM_001927(DES):c.1358C>T HIFD substitution exon 1 HIFD_DES:c.735+2_735+11delTATACCTTGG NM_001927(DES):c.735+2_735+11delTATACCTTGG HIFD deletion intron 1 HIFD_DES:c.1325C>T NM_001927(DES):c.1325C>T HIFD substitution exon 1 HIFD_DES:c.1360C>T NM_001927(DES):c.1360C>T HIFD substitution exon 1 HIFD_DES:c.1379G>T NM_001927(DES):c.1379G>T HIFD substitution exon 1 HIFD_DES:c.638C>T NM_001927(DES):c.638C>T HIFD substitution exon 1 HIFD_DES:c.1013T>G NM_001927(DES):c.1013T>G HIFD substitution exon 1 HIFD_DES:c.1195G>T NM_001927(DES):c.1195G>T HIFD substitution exon 1 HIFD_DES:c.1201G>A NM_001927(DES):c.1201G>A HIFD substitution exon 1 HIFD_DES:c.322G>A NM_001927(DES):c.322G>A HIFD substitution exon 1 HIFD_DES:c.893C>T NM_001927(DES):c.893C>T HIFD substitution exon 1 HIFD_DES:c.934G>A NM_001927(DES):c.934G>A HIFD substitution exon 1 HIFD_DES:c.1048C>T NM_001927(DES):c.1048C>T HIFD substitution exon 1 HIFD_DES:c.1375G>A NM_001927(DES):c.1375G>A HIFD substitution exon 1 HIFD_DES:c.1255C>T NM_001927(DES):c.1255C>T HIFD substitution exon 1 HIFD_DES:c.1175T>C NM_001927(DES):c.1175T>C HIFD substitution exon 1 HIFD_DES:c.1099A>T NM_001927(DES):c.1099A>T HIFD substitution exon 1 HIFD_DES:c.38C>T NM_001927(DES):c.38C>T HIFD substitution exon 1 HIFD_DES:c.640-2A>G NM_001927(DES):c.640-2A>G HIFD substitution intron 1 HIFD_DES:c.340_342delGAG NM_001927(DES):c.340_342delGAG HIFD deletion exon 1 HIFD_DES:c.821T>C NM_001927(DES):c.821T>C HIFD substitution exon 1 HIFD_DES:c.35C>T NM_001927(DES):c.35C>T HIFD substitution exon 1 HIFD_DES:c.1370A>T NM_001927(DES):c.1370A>T HIFD substitution exon 1 HIFD_DES:c.821T>G NM_001927(DES):c.821T>G HIFD substitution exon 1 HIFD_DES:c.338_339delAG NM_001927(DES):c.338_339delAG HIFD deletion exon 1 HIFD_DES:c.1333A>G NM_001927(DES):c.1333A>G HIFD substitution exon 1 HIFD_DES:c.347A>G NM_001927(DES):c.347A>G HIFD substitution exon 1 HIFD_GFAP:c.235C>T NM_002055(GFAP):c.235C>T HIFD substitution exon 1 HIFD_GFAP:c.715C>T NM_002055(GFAP):c.715C>T HIFD substitution exon 1 HIFD_GFAP:c.716G>A NM_002055(GFAP):c.716G>A HIFD substitution exon 1 HIFD_GFAP:c.773G>C NM_002055(GFAP):c.773G>C HIFD substitution exon 1 HIFD_GFAP:c.1246C>T NM_002055(GFAP):c.1246C>T HIFD substitution exon 1 HIFD_GFAP:c.236G>A NM_002055(GFAP):c.236G>A HIFD substitution exon 1 HIFD_GFAP:c.[140C>T; 715C>T] NM_002055(GFAP):c.[140C>T; 715C>T] HIFD substitution exon 1 HIFD_GFAP:c.226C>T NM_002055(GFAP):c.226C>T HIFD substitution exon 1 HIFD_GFAP:c.229A>T NM_002055(GFAP):c.229A>T HIFD substitution exon 1 HIFD_GFAP:c.262C>T NM_002055(GFAP):c.262C>T HIFD substitution exon 1 HIFD_GFAP:c.262C>A NM_002055(GFAP):c.262C>A HIFD substitution exon 1 HIFD_GFAP:c.731C>T NM_002055(GFAP):c.731C>T HIFD substitution exon 1 HIFD_GFAP:c.260T>G NM_002055(GFAP):c.260T>G HIFD substitution exon 1 HIFD_GFAP:c.218T>G NM_002055(GFAP):c.218T>G HIFD substitution exon 1 HIFD_GFAP:c.235C>G NM_002055(GFAP):c.235C>G HIFD substitution exon 1 HIFD_GFAP:c.724T>G NM_002055(GFAP):c.724T>G HIFD substitution exon 1 HIFD_GFAP:c.1117G>A NM_002055(GFAP):c.1117G>A HIFD substitution exon 1 HIFD_GFAP:c.1086G>C NM_002055(GFAP):c.1086G>C HIFD substitution exon 1 HIFD_GFAP:c.290T>C NM_002055(GFAP):c.290T>C HIFD substitution exon 1 HIFD_GFAP:c.716G>C NM_002055(GFAP):c.716G>C HIFD substitution exon 1 HIFD_GFAP:c.827G>T NM_002055(GFAP):c.827G>T HIFD substitution exon 1 HIFD_GFAP:c.236G>T NM_002055(GFAP):c.236G>T HIFD substitution exon 1 HIFD_GFAP:c.667G>C NM_002055(GFAP):c.667G>C HIFD substitution exon 1 HIFD_GFAP:c.248C>A NM_002055(GFAP):c.248A>C HIFD substitution exon 1 HIFD_GFAP:c.1055T>C NM_002055(GFAP):c.1055T>C HIFD substitution exon 1 HIFD_GFAP:c.269T>C NM_002055(GFAP):c.269T>C HIFD substitution exon 1 HIFD_GFAP:c.992T>C NM_002055(GFAP):c.992T>C HIFD substitution exon 1 HIFD_GFAP:c.187A>C NM_002055(GFAP):c.187A>C HIFD substitution exon 1 HIFD_GFAP:c.226C>G NM_002055(GFAP):c.226C>G HIFD substitution exon 1 HIFD_GFAP:c.230A>G NM_002055(GFAP):c.230A>G HIFD substitution exon 1 HIFD_GFAP:c.619G>A NM_002055(GFAP):c.619G>A HIFD substitution exon 1 HIFD_GFAP:c.619G>C NM_002055(GFAP):c.619G>C HIFD substitution exon 1 HIFD_GFAP:c.628G>A NM_002055(GFAP):c.628G>A HIFD substitution exon 1 HIFD_GFAP:c.704T>C NM_002055(GFAP):c.704T>C HIFD substitution exon 1 HIFD_GFAP:c.758C>G NM_002055(GFAP):c.758C>G HIFD substitution exon 1 HIFD_GFAP:c.835A>G NM_002055(GFAP):c.835A>G HIFD substitution exon 1 HIFD_GFAP:c.1075C>G NM_002055(GFAP):c.1075C>G HIFD substitution exon 1 HIFD_GFAP:c.1090G>C NM_002055(GFAP):c.1090G>C HIFD substitution exon 1 HIFD_GFAP:c.1096T>C NM_002055(GFAP):c.1096T>C HIFD substitution exon 1 HIFD_GFAP:c.1117G>C NM_002055(GFAP):c.1117G>C HIFD substitution exon 1 HIFD_GFAP:c.1121A>G NM_002055(GFAP):c.1121A>G HIFD substitution exon 1 HIFD_GFAP:c.343G>T NM_002055(GFAP):c.343G>T HIFD substitution exon 1 HIFD_GFAP:c.343G>A NM_002055(GFAP):c.343G>A HIFD substitution exon 1 HIFD_GFAP:c.1112A>G NM_002055(GFAP):c.1112A>G HIFD substitution exon 1 HIFD_GFAP:c.208C>T NM_002055(GFAP):c.208C>T HIFD substitution exon 1 HIFD_GFAP:c.256_259delAAGGinsGAGT NM_002055(GFAP):c.256_259delAAGGinsGAGT HIFD complex exon 1 HIFD_GFAP:c.1157A>T NM_002055(GFAP):c.1157A>T HIFD substitution exon 1 HIFD_GFAP:c.716G>T NM_002055(GFAP):c.716G>T HIFD substitution exon 1 HIFD_GFAP:c.1178G>T NM_002055(GFAP):c.1178G>T HIFD substitution exon 1 HIFD_GFAP:c.[799G>C]+[*28C>G] NM_002055(GFAP):c.[799G>C]+[*28C>G] HIFD substitution not within known transcription unit 1 HIFD_GFAP:c.1079A>T NM_002055(GFAP):c.1079A>T HIFD substitution exon 1 HIFD_GFAP:c.1097A>G NM_002055(GFAP):c.1097A>G HIFD substitution exon 1 HIFD_GFAP:c.1091C>T NM_002055(GFAP):c.1091C>T HIFD substitution exon 1 HIFD_GFAP:c.221T>C NM_002055(GFAP):c.221T>C HIFD substitution exon 1 HIFD_GFAP:c.770A>G NM_002055(GFAP):c.770A>G HIFD substitution exon 1 HIFD_GFAP:c.1247_1249delGGGinsGG NM_002055(GFAP):c.1247_1249delGGGinsGG HIFD complex exon 1 HIFD_GFAP:c.247T>C NM_002055(GFAP):c.247T>C HIFD substitution exon 1 HIFD_GFAP:c.613G>A NM_002055(GFAP):c.613G>A HIFD substitution exon 1 HIFD_GFAP:c.1193C>A NM_002055(GFAP):c.1193C>A HIFD substitution exon 1 HIFD_GFAP:c.382G>A NM_002055(GFAP):c.382G>A HIFD substitution exon 1 HIFD_GFAP:c.209G>A NM_002055(GFAP):c.209G>A HIFD substitution exon 1 HIFD_GFAP:c.218T>A NM_002055(GFAP):c.218T>A HIFD substitution exon 1 HIFD_GFAP:c.236G>C NM_002055(GFAP):c.236G>C HIFD substitution exon 1 HIFD_GFAP:c.1076T>C NM_002055(GFAP):c.1076T>C HIFD substitution exon 1 HIFD_GFAP:c.469G>A NM_002055(GFAP):c.469G>A HIFD substitution exon 1 HIFD_GFAP:c.1126C>T NM_002055(GFAP):c.1126C>T HIFD substitution exon 1 HIFD_GFAP:c.141G>A NM_002055(GFAP):c.141G>A HIFD substitution exon 1 HIFD_GFAP:c.759C>T NM_002055(GFAP):c.759C>T HIFD substitution exon 1 HIFD_GFAP:c.988C>G NM_002055(GFAP):c.988C>G HIFD substitution exon 1 HIFD_GFAP:c.994G>A NM_002055(GFAP):c.994G>A HIFD substitution exon 1 HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] NM_002055(GFAP):c.[236G>A; =]+[=; 667G>C] HIFD substitution exon 1 HIFD_GFAP:c.1070C>T NM_002055(GFAP):c.1070T>C HIFD substitution exon 1 HIFD_GFAP:c.302T>C NM_002055(GFAP):c.302T>C HIFD substitution exon 1 HIFD_GFAP:c.1148C>T NM_002055(GFAP):c.1148C>T HIFD substitution exon 1 HIFD_GFAP:c.259G>C NM_002055(GFAP):c.259G>C HIFD substitution exon 1 HIFD_GFAP:c.739T>C NM_002055(GFAP):c.739T>C HIFD substitution exon 1 HIFD_GFAP:c.1250A>C NM_002055(GFAP):c.1250A>C HIFD substitution exon 1 HIFD_GFAP:c.1277A>T NM_002055(GFAP):c.1277A>T HIFD substitution exon 1 HIFD_GFAP:c.211G>A NM_002055(GFAP):c.211G>A HIFD substitution exon 1 HIFD_GFAP:c.214G>A NM_002055(GFAP):c.214G>A HIFD substitution exon 1 HIFD_GFAP:c.235C>A NM_002055(GFAP):c.235C>A HIFD substitution exon 1 HIFD_GFAP:c.257A>G NM_002055(GFAP):c.257A>G HIFD substitution exon 1 HIFD_GFAP:c.707A>C NM_002055(GFAP):c.707A>C HIFD substitution exon 1 HIFD_GFAP:c.1111G>C NM_002055(GFAP):c.1111G>C HIFD substitution exon 1 HIFD_GFAP:c.1112A>T NM_002055(GFAP):c.1112A>T HIFD substitution exon 1 HIFD_GFAP:c.1126C>G NM_002055(GFAP):c.1126C>G HIFD substitution exon 1 HIFD_GFAP:c.1140C>T NM_002055(GFAP):c.1140C>T HIFD substitution exon 1 HIFD_PRPH:c.229delC NM_006262(PRPH):c.229delC HIFD deletion exon 1 HIFD_PRPH:c.398G>C NM_006262(PRPH):c.398G>C HIFD substitution exon 1 HIFD_PRPH:c.421G>T NM_006262(PRPH):c.421G>T HIFD substitution exon 1 HIFD_PRPH:c.703-13C>T NM_006262(PRPH):c.703-13C>T HIFD substitution intron 1 HIFD_PRPH:c.547T>C NM_006262(PRPH):c.547T>C HIFD substitution exon 1 HIFD_PRPH:c.870+12G>A NM_006262(PRPH):c.870+12G>A HIFD substitution intron 1 HIFD_PRPH:c.1217+34G>A NM_006262(PRPH):c.1217+34G>A HIFD substitution intron 1 HIFD_PRPH:c.-24G>C NM_006262(PRPH):c.-24G>C HIFD substitution 5' UTR 1 HIFD_VIM:c.451G>A NM_003380(VIM):c.451G>A HIFD substitution exon 1 HIFD_NEF3:c.1006G>A NM_005382(NEF3):c.1006G>A HIFD substitution exon 1 HIFD_NEF3:c.104T>A NM_005382(NEF3):c.104T>A HIFD substitution exon 1 HIFD_NEF3:c.837C>A NM_005382(NEF3):c.837C>A HIFD substitution exon 1 HIFD_NEF3:c.1423G>A NM_005382(NEF3):c.1423G>A HIFD substitution exon 1 HIFD_NEF3:c.2089G>C NM_005382(NEF3):c.2089G>C HIFD substitution exon 1 HIFD_NEF3:c.2263G>T NM_005382(NEF3):c.2263G>T HIFD substitution exon 1 HIFD_NEF3:c.2572G>A NM_005382(NEF3):c.2572G>A HIFD substitution exon 1 HIFD_NEF3:c.2153T>C NM_005382(NEF3):c.2153T>C HIFD substitution exon 1 HIFD_NEFH:c.2368_2370delAAG NM_021076(NEFH):c.2368_2370delAAG HIFD deletion exon 1 HIFD_NEFH:c.1582_1683del102 NM_021076(NEFH):c.1582_1683del102 HIFD deletion exon 1 HIFD_NEFH:c.2124_2125ins84 NM_021076(NEFH):c.2124_2125ins84 HIFD insertion exon 1 HIFD_NEFH:c.1965_1988del24 NM_021076(NEFH):c.1965_1988del24 HIFD deletion exon 1 HIFD_NEFH:c.1989_2006del18 NM_021076(NEFH):c.1989_2006del18 HIFD deletion exon 1 HIFD_NEFH:c.1989_2030del42 NM_021076(NEFH):c.1989_2030del42 HIFD deletion exon 1 HIFD_NEFH:c.2230_2247del18 NM_021076(NEFH):c.2230_2247del18 HIFD deletion exon 1 HIFD_NEFH:c.1554A>C NM_021076(NEFH):c.1554A>C HIFD substitution exon 1 HIFD_NEFH:c.1629A>G NM_021076(NEFH):c.1629A>G HIFD substitution exon 1 HIFD_NEFH:c.1836A>C NM_021076(NEFH):c.1836A>C HIFD substitution exon 1 HIFD_NEFH:c.1878A>C NM_021076(NEFH):c.1878A>C HIFD substitution exon 1 HIFD_NEFH:c.269C>T NM_021076(NEFH):c.269C>T HIFD substitution exon 1 HIFD_NEFH:c.745G>A NM_021076(NEFH):c.745G>A HIFD substitution exon 1 HIFD_NEFH:c.1054C>A NM_021076(NEFH):c.1054C>A HIFD substitution exon 1 HIFD_NEFH:c.1138G>A NM_021076(NEFH):c.1138G>A HIFD substitution exon 1 HIFD_NEFL:c.1402G>A NM_006158(NEFL):c.1402G>A HIFD substitution exon 1 HIFD_NEFL:c.995A>C NM_006158(NEFL):c.995A>C HIFD substitution exon 1 HIFD_NEFL:c.22_23delCCinsAG NM_006158(NEFL):c.22_23delCCinsAG HIFD complex exon 1 HIFD_NEFL:c.64C>A NM_006158(NEFL):c.64C>A HIFD substitution exon 1 HIFD_NEFL:c.293A>G NM_006158(NEFL):c.293A>G HIFD substitution exon 1 HIFD_NEFL:c.446C>T NM_006158(NEFL):c.446C>T HIFD substitution exon 1 HIFD_NEFL:c.64C>T NM_006158(NEFL):c.64C>T HIFD substitution exon 1 HIFD_NEFL:c.23C>G NM_006158(NEFL):c.23C>G HIFD substitution exon 1 HIFD_NEFL:c.23C>T NM_006158(NEFL):c.23C>T HIFD substitution exon 1 HIFD_NEFL:c.23C>A NM_006158(NEFL):c.23C>A HIFD substitution exon 1 HIFD_NEFL:c.1579_1581delGAG NM_006158(NEFL):c.1579_1581delGAG HIFD deletion exon 1 HIFD_NEFL:c.19G>A NM_006158(NEFL):c.19G>A HIFD substitution exon 1 HIFD_NEFL:c.268G>A NM_006158(NEFL):c.268G>A HIFD substitution exon 1 HIFD_NEFL:c.1189G>A NM_006158(NEFL):c.1189G>A HIFD substitution exon 1 HIFD_NEFL:c.998T>C NM_006158(NEFL):c.998T>C HIFD substitution exon 1 HIFD_NEFL:c.1575_1576insG NM_006158(NEFL):c.1575_1576insG HIFD insertion exon 1 HIFD_NEFL:c.48_60dup13 NM_006158(NEFL):c.48_60dup13 HIFD duplication exon 1 HIFD_NEFL:c.639C>G NM_006158(NEFL):c.639C>G HIFD substitution exon 1 HIFD_NEFL:c.803T>C NM_006158(NEFL):c.803T>C HIFD substitution exon 1 HIFD_NEFL:c.1186G>A NM_006158(NEFL):c.1186G>A HIFD substitution exon 1 HIFD_NEFL:c.963_977del15 NM_006158(NEFL):c.963_977del15 HIFD deletion exon 1 HIFD_NEFL:c.281T>C NM_006158(NEFL):c.281T>C HIFD substitution exon 1 HIFD_NEFL:c.418G>T NM_006158(NEFL):c.418G>T HIFD substitution exon 1 HIFD_NEFL:c.65C>G NM_006158(NEFL):c.65C>G HIFD substitution exon 1 HIFD_LMNA:c.16C>T NM_170707(LMNA):c.16C>T HIFD substitution exon 1 HIFD_LMNA:c.1357C>T NM_170707(LMNA):c.1357C>T HIFD substitution exon 1 HIFD_LMNA:c.1580G>C NM_170707(LMNA):c.1580G>C HIFD substitution exon 1 HIFD_LMNA:c.1589T>C NM_170707(LMNA):c.1589T>C HIFD substitution exon 1 HIFD_LMNA:c.178C>G NM_170707(LMNA):c.178C>G HIFD substitution exon 1 HIFD_LMNA:c.254T>G NM_170707(LMNA):c.254T>G HIFD substitution exon 1 HIFD_LMNA:c.585C>G NM_170707(LMNA):c.585C>G HIFD substitution exon 1 HIFD_LMNA:c.608A>G NM_170707(LMNA):c.608A>G HIFD substitution exon 1 HIFD_LMNA:c.1445G>A NM_170707(LMNA):c.1445G>A HIFD substitution exon 1 HIFD_LMNA:c.1444C>T NM_170707(LMNA):c.1444C>T HIFD substitution exon 1 HIFD_LMNA:c.1445G>T NM_170707(LMNA):c.1445G>T HIFD substitution exon 1 HIFD_LMNA:c.1458G>C NM_170707(LMNA):c.1458G>C HIFD substitution exon 1 HIFD_LMNA:c.1458G>T NM_170707(LMNA):c.1458G>T HIFD substitution exon 1 HIFD_LMNA:c.959delT NM_170707(LMNA):c.959delT HIFD deletion exon 1 HIFD_LMNA:c.1745G>A NM_170707(LMNA):c.1745G>A HIFD substitution exon 1 HIFD_LMNA:c.1394G>A NM_170707(LMNA):c.1394G>A HIFD substitution exon 1 HIFD_LMNA:c.746G>A NM_170707(LMNA):c.746G>A HIFD substitution exon 1 HIFD_LMNA:c.1007G>A NM_170707(LMNA):c.1007G>A HIFD substitution exon 1 HIFD_LMNA:c.1406T>C NM_170707(LMNA):c.1406T>C HIFD substitution exon 1 HIFD_LMNA:c.1583C>A NM_170707(LMNA):c.1583C>A HIFD substitution exon 1 HIFD_LMNA:c.664C>T NM_170707(LMNA):c.664C>T HIFD substitution exon 1 HIFD_LMNA:c.1130G>A NM_170707(LMNA):c.1130G>A HIFD substitution exon 1 HIFD_LMNA:c.1608+5G>C NM_170707(LMNA):c.1608+5G>C HIFD substitution intron 1 HIFD_LMNA:c.622_624delAAG NM_170707(LMNA):c.622_624delAAG HIFD deletion exon 1 HIFD_LMNA:c.448A>C NM_170707(LMNA):c.448A>C HIFD substitution exon 1 HIFD_LMNA:c.781_783delAAG NM_170707(LMNA):c.781_783delAAG HIFD deletion exon 1 HIFD_LMNA:c.134A>G NM_170707(LMNA):c.134A>G HIFD substitution exon 1 HIFD_LMNA:c.149G>C NM_170707(LMNA):c.149G>C HIFD substitution exon 1 HIFD_LMNA:c.188T>G NM_170707(LMNA):c.188T>G HIFD substitution exon 1 HIFD_LMNA:c.665A>C NM_170707(LMNA):c.665A>C HIFD substitution exon 1 HIFD_LMNA:c.695G>A NM_170707(LMNA):c.695G>A HIFD substitution exon 1 HIFD_LMNA:c.881A>C NM_170707(LMNA):c.881A>C HIFD substitution exon 1 HIFD_LMNA:c.1072G>A NM_170707(LMNA):c.1072G>A HIFD substitution exon 1 HIFD_LMNA:c.1112T>A NM_170707(LMNA):c.1112T>A HIFD substitution exon 1 HIFD_LMNA:c.1368C>A NM_170707(LMNA):c.1368C>A HIFD substitution exon 1 HIFD_LMNA:c.1559G>C NM_170707(LMNA):c.1559G>C HIFD substitution exon 1 HIFD_LMNA:c.334_336delGAG NM_170707(LMNA):c.334_336delGAG HIFD deletion exon 1 HIFD_LMNA:c.1397_1397delA NM_170707(LMNA):c.1397_1397delA HIFD deletion exon 1 HIFD_LMNA:c.1751G>A NM_170707(LMNA):c.1751G>A HIFD substitution exon 1 HIFD_LMNA:c.1930C>T NM_170707(LMNA):c.1930C>T HIFD substitution exon 1 HIFD_LMNA:c.74G>C NM_170707(LMNA):c.74G>C HIFD substitution exon 1 HIFD_LMNA:c.127G>A NM_170707(LMNA):c.127G>A HIFD substitution exon 1 HIFD_LMNA:c.148C>A NM_170707(LMNA):c.148C>A HIFD substitution exon 1 HIFD_LMNA:c.398G>C NM_170707(LMNA):c.398G>C HIFD substitution exon 1 HIFD_LMNA:c.588_596delGCTGCAGAC NM_170707(LMNA):c.588_596delGCTGCAGAC HIFD deletion exon 1 HIFD_LMNA:c.1871G>A NM_170707(LMNA):c.1871G>A HIFD substitution exon 1 HIFD_LMNA:c.1367A>T NM_170707(LMNA):c.1367A>T HIFD substitution exon 1 HIFD_LMNA:c.1441T>C NM_170707(LMNA):c.1441T>C HIFD substitution exon 1 HIFD_LMNA:c.892C>T NM_170707(LMNA):c.892C>T HIFD substitution exon 1 HIFD_LMNA:c.331G>T NM_170707(LMNA):c.331G>T HIFD substitution exon 1 HIFD_LMNA:c.289A>G NM_170707(LMNA):c.289A>G HIFD substitution exon 1 HIFD_LMNA:c.568C>T NM_170707(LMNA):c.568C>T HIFD substitution exon 1 HIFD_LMNA:c.949G>A NM_170707(LMNA):c.949G>A HIFD substitution exon 1 HIFD_LMNA:c.82C>T NM_170707(LMNA):c.82C>T HIFD substitution exon 1 HIFD_LMNA:c.184C>G NM_170707(LMNA):c.184C>G HIFD substitution exon 1 HIFD_LMNA:c.1130G>T NM_170707(LMNA):c.1130G>T HIFD substitution exon 1 HIFD_LMNA:c.1580G>A NM_170707(LMNA):c.1580G>A HIFD substitution exon 1 HIFD_LMNA:c.1201C>T NM_170707(LMNA):c.1201C>T HIFD substitution exon 1 HIFD_LMNA:c.907T>C NM_170707(LMNA):c.907T>C HIFD substitution exon 1 HIFD_LMNA:c.188T>A NM_170707(LMNA):c.188T>A HIFD substitution exon 1 HIFD_LMNA:c.94_96delAAG NM_170707(LMNA):c.94_96delAAG HIFD deletion exon 1 HIFD_LMNA:c.644T>C NM_170707(LMNA):c.644T>C HIFD substitution exon 1 HIFD_LMNA:c.266G>T NM_170707(LMNA):c.266G>T HIFD substitution exon 1 HIFD_LMNA:c.1718C>T NM_170707(LMNA):c.1718C>T HIFD substitution exon 1 HIFD_LMNA:c.398G>T NM_170707(LMNA):c.398G>T HIFD substitution exon 1 HIFD_LMNA:c.1824C>T NM_170707(LMNA):c.1824C>T HIFD substitution exon 1 HIFD_LMNA:c.433G>A NM_170707(LMNA):c.433G>A HIFD substitution exon 1 HIFD_LMNA:c.1822G>A NM_170707(LMNA):c.1822G>A HIFD substitution exon 1 HIFD_LMNA:c.1411C>T NM_170707(LMNA):c.1411C>T HIFD substitution exon 1 HIFD_LMNA:c.1579C>T NM_170707(LMNA):c.1579C>T HIFD substitution exon 1 HIFD_LMNA:c.481G>A NM_170707(LMNA):c.481G>A HIFD substitution exon 1 HIFD_LMNA:c.28_29insA NM_170707(LMNA):c.28_29insA HIFD insertion exon 1 HIFD_LMNA:c.169G>C NM_170707(LMNA):c.169G>C HIFD substitution exon 1 HIFD_LMNA:c.419T>G NM_170707(LMNA):c.419T>G HIFD substitution exon 1 HIFD_LMNA:c.513G>A NM_170707(LMNA):c.513G>A HIFD substitution exon 1 HIFD_LMNA:c.1621C>T NM_170707(LMNA):c.1621C>T HIFD substitution exon 1 HIFD_LMNA:c.103C>G NM_170707(LMNA):c.103C>G HIFD substitution exon 1 HIFD_LMNA:c.743T>C NM_170707(LMNA):c.743T>C HIFD substitution exon 1 HIFD_LMNA:c.800A>G NM_170707(LMNA):c.800A>G HIFD substitution exon 1 HIFD_LMNA:c.1337A>T NM_170707(LMNA):c.1337A>T HIFD substitution exon 1 HIFD_LMNA:c.1583C>G NM_170707(LMNA):c.1583C>G HIFD substitution exon 1 HIFD_LMNA:c.1622G>A NM_170707(LMNA):c.1622G>A HIFD substitution exon 1 HIFD_LMNA:c.73C>G NM_170707(LMNA):c.73C>G HIFD substitution exon 1 HIFD_LMNA:c.99G>T NM_170707(LMNA):c.99G>T HIFD substitution exon 1 HIFD_LMNA:c.29C>T NM_170707(LMNA):c.29C>T HIFD substitution exon 1 HIFD_LMNA:c.1733A>T NM_170707(LMNA):c.1733A>T HIFD substitution exon 1 HIFD_LMNA:c.1868C>G NM_170707(LMNA):c.1868C>G HIFD substitution exon 1 HIFD_LMNA:c.427T>C NM_170707(LMNA):c.427T>C HIFD substitution exon 1 HIFD_LMNA:c.1046G>T NM_170707(LMNA):c.1046G>T HIFD substitution exon 1 HIFD_LMNA:c.1626G>C NM_170707(LMNA):c.1626G>C HIFD substitution exon 1 HIFD_LMNA:c.1748C>T NM_170707(LMNA):c.1748C>T HIFD substitution exon 1 HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] NM_170707(LMNA):c.[1583C>T; =]+[=; 1748C>T] HIFD substitution exon 1 HIFD_LMNA:c.1968+1G>A NM_170707(LMNA):c.1968+1G>A HIFD substitution intron 1 HIFD_LMNA:c.428C>T NM_170707(LMNA):c.428C>T HIFD substitution exon 1 HIFD_LMNA:c.777T>A NM_170707(LMNA):c.777T>A HIFD substitution exon 1 HIFD_LMNA:c.1187A>G NM_170707(LMNA):c.1187A>G HIFD substitution exon 1 HIFD_LMNA:c.640-10A>G NM_170707(LMNA):c.640-10A>G HIFD substitution intron 1 HIFD_LMNA:c.1930C>A NM_170707(LMNA):c.1930C>A HIFD substitution exon 1 HIFD_LMNA:c.1494G>T NM_170707(LMNA):c.1494G>T HIFD substitution exon 1 HIFD_LMNA:c.1804G>A NM_170707(LMNA):c.1804G>A HIFD substitution exon 1 HIFD_LMNA:c.864_867delCCAC NM_170707(LMNA):c.864_867delCCAC HIFD deletion exon 1 HIFD_LMNA:c.1586C>T NM_170707(LMNA):c.1586C>T HIFD substitution exon 1 HIFD_LMNA:c.575A>G NM_170707(LMNA):c.575A>G HIFD substitution exon 1 HIFD_LMNA:c.1621C>A NM_170707(LMNA):c.1621C>A HIFD substitution exon 1 HIFD_LMNA:c.1443C>G NM_170707(LMNA):c.1443C>G HIFD substitution exon 1 HIFD_LMNA:c.1535T>C NM_170707(LMNA):c.1535T>C HIFD substitution exon 1 HIFD_LMNA:c.425_426ins21 NM_170707(LMNA):c.425_426ins21 HIFD insertion exon 1 HIFD_LMNA:c.394G>C NM_170707(LMNA):c.394G>C HIFD substitution exon 1 HIFD_LMNA:c.1085_1085delT NM_170707(LMNA):c.1085_1085delT HIFD deletion exon 1 HIFD_LMNA:c.1493_1493delG NM_170707(LMNA):c.1493_1493delG HIFD deletion exon 1 HIFD_LMNA:c.976T>A NM_170707(LMNA):c.976T>A HIFD substitution exon 1 HIFD_LMNA:c.244G>A NM_170707(LMNA):c.244G>A HIFD substitution exon 1 HIFD_LMNA:c.1488+5G>C NM_170707(LMNA):c.1488+5G>C HIFD substitution intron 1 HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] NM_170707(LMNA):c.[1318G>A; =]+[=; 1445G>A] HIFD substitution exon 1 HIFD_LMNA:c.908_909delCT NM_170707(LMNA):c.908_909delCT HIFD deletion exon 1 HIFD_LMNA:c.1960C>T NM_170707(LMNA):c.1960C>T HIFD substitution exon 1 HIFD_LMNA:c.1579_1580insCTGC NM_170707(LMNA):c.1579_1580insCTGC HIFD insertion exon 1 HIFD_LMNA:c.31delC NM_170707(LMNA):c.31delC HIFD deletion exon 1 HIFD_LMNA:c.1157G>A NM_170707(LMNA):c.1157G>A HIFD substitution exon 1 HIFD_LMNA:c.419T>C NM_170707(LMNA):c.419T>C HIFD substitution exon 1 HIFD_LMNA:c.-3_12del15 NM_170707(LMNA):c.-3_12del15 HIFD deletion 5' UTR 1 HIFD_LMNA:c.607G>A NM_170707(LMNA):c.607G>A HIFD substitution exon 1 HIFD_LMNA:c.673C>T NM_170707(LMNA):c.673C>T HIFD substitution exon 1 HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] NM_170707(LMNA):c.[1583C>T; =]+[=; 1619T>C] HIFD substitution exon 1 HIFD_LMNA:c.99G>C NM_170707(LMNA):c.99G>C HIFD substitution exon 1 HIFD_LMNA:c.116A>G NM_170707(LMNA):c.116A>G HIFD substitution exon 1 HIFD_LMNA:c.775T>G NM_170707(LMNA):c.775T>G HIFD substitution exon 1 HIFD_LMNA:c.1146C>T NM_170707(LMNA):c.1146C>T HIFD substitution exon 1 HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] NM_170707(LMNA):c.[992G>A; =]+[=; 1039G>A] HIFD substitution exon 1 HIFD_LMNA:c.1477C>T NM_170707(LMNA):c.1477C>T HIFD substitution exon 1 HIFD_LMNA:c.688G>A NM_170707(LMNA):c.688G>A HIFD substitution exon 1 HIFD_LMNA:c.1195C>T NM_170707(LMNA):c.1195C>T HIFD substitution exon 1 HIFD_LMNA:c.176T>G NM_170707(LMNA):c.176T>G HIFD substitution exon 1 HIFD_LMNA:c.1821G>A NM_170707(LMNA):c.1821G>A HIFD substitution exon 1 HIFD_LMNA:c.158A>T NM_170707(LMNA):c.158A>T HIFD substitution exon 1 HIFD_LMNA:c.556G>A NM_170707(LMNA):c.556G>A HIFD substitution exon 1 HIFD_LMNA:c.855delG NM_170707(LMNA):c.855delG HIFD deletion exon 1 HIFD_LMNA:c.992G>C NM_170707(LMNA):c.992G>C HIFD substitution exon 1 HIFD_LMNA:c.1370delA NM_170707(LMNA):c.1370delA HIFD deletion exon 1 HIFD_LMNA:c.1526_1527insC NM_170707(LMNA):c.1526_1527insC HIFD insertion exon 1 HIFD_LMNA:c.1162C>T NM_170707(LMNA):c.1162C>T HIFD substitution exon 1 HIFD_LMNA:c.1368_1370delCAA NM_170707(LMNA):c.1368_1370delCAA HIFD deletion exon 1 HIFD_LMNA:c.624_626delGAA NM_170707(LMNA):c.624_626delGAA HIFD deletion exon 1 HIFD_LMNA:c.1380+1G>A NM_170707(LMNA):c.1380+1G>A HIFD substitution intron 1 HIFD_LMNA:c.1315C>T NM_170707(LMNA):c.1315C>T HIFD substitution exon 1 HIFD_LMNA:c.1512_1513insAG NM_170707(LMNA):c.1512_1513insAG HIFD insertion exon 1 HIFD_LMNA:c.585C>A NM_170707(LMNA):c.585C>A HIFD substitution exon 1 HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] NM_170707(LMNA):c.[1318G>A; =]+[=; 1580G>A] HIFD substitution exon 1 HIFD_LMNA:c.961C>T NM_170707(LMNA):c.961C>T HIFD substitution exon 1 HIFD_LMNA:c.625delA NM_170707(LMNA):c.625delA HIFD deletion exon 1 HIFD_LMNA:c.73C>T NM_170707(LMNA):c.73C>T HIFD substitution exon 1 HIFD_LMNA:c.1622G>C NM_170707(LMNA):c.1622G>C HIFD substitution exon 1 HIFD_LMNA:c.1045C>T NM_170707(LMNA):c.1045C>T HIFD substitution exon 1 HIFD_LMNA:c.1772G>T NM_170707(LMNA):c.1772G>T HIFD substitution exon 1 HIFD_LMNA:c.1558T>G NM_170707(LMNA):c.1558T>G HIFD substitution exon 1 HIFD_LMNA:c.1142A>C NM_170707(LMNA):c.1142A>C HIFD substitution exon 1 HIFD_LMNA:c.265C>T NM_170707(LMNA):c.265C>T HIFD substitution exon 1 HIFD_LMNA:c.1585G>A NM_170707(LMNA):c.1585G>A HIFD substitution exon 1 HIFD_LMNA:c.1411C>G NM_170707(LMNA):c.1411C>G HIFD substitution exon 1 HIFD_LMNA:c.1698C>T NM_170707(LMNA):c.1698C>T HIFD substitution exon 1 HIFD_LMNA:c.274C>T NM_170707(LMNA):c.274C>T HIFD substitution exon 1 HIFD_LMNA:c.1184C>T NM_170707(LMNA):c.1184C>T HIFD substitution exon 1 HIFD_LMNA:c.1159C>G NM_170707(LMNA):c.1159C>G HIFD substitution exon 1 HIFD_LMNA:c.1196G>A NM_170707(LMNA):c.1196G>A HIFD substitution exon 1 HIFD_LMNA:c.1262T>C NM_170707(LMNA):c.1262T>C HIFD substitution exon 1 HIFD_LMNA:c.1516C>G NM_170707(LMNA):c.1516C>G HIFD substitution exon 1 HIFD_LMNA:c.1964_1965insG NM_170707(LMNA):c.1964_1965insG HIFD insertion exon 1 HIFD_LMNA:c.1069G>C NM_170707(LMNA):c.1069G>C HIFD substitution exon 1 HIFD_LMNA:c.302G>C NM_170707(LMNA):c.302G>C HIFD substitution exon 1 HIFD_LMNA:c.357-1G>T NM_170707(LMNA):c.357-1G>T HIFD substitution intron 1 HIFD_LMNA:c.497G>C NM_170707(LMNA):c.497G>C HIFD substitution exon 1 HIFD_LMNA:c.569G>A NM_170707(LMNA):c.569G>A HIFD substitution exon 1 HIFD_LMNA:c.629T>G NM_170707(LMNA):c.629T>G HIFD substitution exon 1 HIFD_LMNA:c.700C>T NM_170707(LMNA):c.700C>T HIFD substitution exon 1 HIFD_LMNA:c.952G>A NM_170707(LMNA):c.952G>A HIFD substitution exon 1 HIFD_LMNA:c.1114delG NM_170707(LMNA):c.1114delG HIFD deletion exon 1 HIFD_LMNA:c.1488+5G>A NM_170707(LMNA):c.1488+5G>A HIFD substitution intron 1 HIFD_LMNA:c.1163G>A NM_170707(LMNA):c.1163G>A HIFD substitution exon 1 HIFD_LMNA:c.1307_1308insGCAC NM_170707(LMNA):c.1307_1308insGCAC HIFD insertion exon 1 HIFD_LMNA:c.1412G>A NM_170707(LMNA):c.1412G>A HIFD substitution exon 1 HIFD_LMNA:c.1424_1425insAGA NM_170707(LMNA):c.1424_1425insAGA HIFD insertion exon 1 HIFD_LMNA:c.1072G>T NM_170707(LMNA):c.1072G>T HIFD substitution exon 1 HIFD_LMNA:c.1496_1496delC NM_170707(LMNA):c.1496_1496delC HIFD deletion exon 1 HIFD_LMNA:c.1609-3C>G NM_170707(LMNA):c.1609-3C>G HIFD substitution intron 1 HIFD_LMNA:c.1609-12T>G NM_170707(LMNA):c.1609-12T>G HIFD substitution intron 1 HIFD_LMNA:c.548T>C NM_170707(LMNA):c.548T>C HIFD substitution exon 1 HIFD_LMNA:c.656A>C NM_170707(LMNA):c.656A>C HIFD substitution exon 1 HIFD_LMNA:c.1492T>A NM_170707(LMNA):c.1492T>A HIFD substitution exon 1 HIFD_LMNA:c.203_208delAGGTGG NM_170707(LMNA):c.203_208delAGGTGG HIFD deletion exon 1 HIFD_LMNA:c.736C>T NM_170707(LMNA):c.736C>T HIFD substitution exon 1 HIFD_LMNA:c.936+1G>T NM_170707(LMNA):c.936+1G>T HIFD substitution intron 1 HIFD_LMNA:c.514-1G>A NM_170707(LMNA):c.514-1G>A HIFD substitution intron 1 HIFD_LMNA:c.1157+1G>A NM_170707(LMNA):c.1157+1G>A HIFD substitution intron 1 HIFD_LMNA:c.608A>T NM_170707(LMNA):c.608A>T HIFD substitution exon 1 HIFD_LMNA:c.898G>A NM_170707(LMNA):c.898G>A HIFD substitution exon 1 HIFD_LMNA:c.1608+1G>A NM_170707(LMNA):c.1608+1G>A HIFD substitution intron 1 HIFD_LMNA:c.799T>C NM_170707(LMNA):c.799T>C HIFD substitution exon 1 HIFD_LMNA:c.485T>C NM_170707(LMNA):c.485T>C HIFD substitution exon 1 HIFD_LMNA:c.1139T>C NM_170707(LMNA):c.1139T>C HIFD substitution exon 1 HIFD_LMNA:c.506delT NM_170707(LMNA):c.506delT HIFD deletion exon 1 HIFD_LMNA:c.745C>T NM_170707(LMNA):c.745C>T HIFD substitution exon 1 HIFD_LMNA:c.905T>C NM_170707(LMNA):c.905T>C HIFD substitution exon 1 HIFD_LMNA:c.1364G>C NM_170707(LMNA):c.1364G>C HIFD substitution exon 1 HIFD_LMNA:c.1358G>C NM_170707(LMNA):c.1358G>C HIFD substitution exon 1 HIFD_LMNA:c.1366A>G NM_170707(LMNA):c.1366A>G HIFD substitution exon 1 HIFD_LMNA:c.1381-2A>G NM_170707(LMNA):c.1381-2A>G HIFD substitution intron 1 HIFD_LMNA:c.106C>T NM_170707(LMNA):c.106C>T HIFD substitution exon 1 HIFD_LMNA:c.810+63C>A NM_170707(LMNA):c.810+63C>A HIFD substitution intron 1 HIFD_LMNA:c.1158-44C>T NM_170707(LMNA):c.1158-44C>T HIFD substitution intron 1 HIFD_LMNA:c.937-46A>G NM_170707(LMNA):c.937-46A>G HIFD substitution intron 1 HIFD_LMNA:c.1149G>A NM_170707(LMNA):c.1149G>A HIFD substitution exon 1 HIFD_LMNA:c.1803C>T NM_170707(LMNA):c.1803C>T HIFD substitution exon 1 HIFD_LMNA:c.373G>A NM_170707(LMNA):c.373G>A HIFD substitution exon 1 HIFD_LMNA:c.1243G>A NM_170707(LMNA):c.1243G>A HIFD substitution exon 1 HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] NM_170707(LMNA):c.[373G>A; =]+[=; 1243G>A] HIFD substitution exon 1 HIFD_LMNA:c.1462A>C NM_170707(LMNA):c.1462A>C HIFD substitution exon 1 HIFD_LMNA:c.139G>C NM_170707(LMNA):c.139G>C HIFD substitution exon 1 HIFD_LMNA:c.694G>C NM_170707(LMNA):c.694G>C HIFD substitution exon 1 HIFD_LMNA:c.1048G>C NM_170707(LMNA):c.1048G>C HIFD substitution exon 1 HIFD_LMNA:c.155T>C NM_170707(LMNA):c.155T>C HIFD substitution exon 1 HIFD_LMNA:c.1904G>A NM_170707(LMNA):c.1904G>A HIFD substitution exon 1 HIFD_LMNA:c.781_783delAAGins18 NM_170707(LMNA):c.781_783delAAGins18 HIFD complex exon 1 HIFD_LMNA:c.1633C>T NM_170707(LMNA):c.1633C>T HIFD substitution exon 1 HIFD_LMNA:c.98A>G NM_170707(LMNA):c.98A>G HIFD substitution exon 1 HIFD_LMNA:c.136A>G NM_170707(LMNA):c.136A>G HIFD substitution exon 1 HIFD_LMNA:c.1567G>A NM_170707(LMNA):c.1567G>A HIFD substitution exon 1 HIFD_LMNA:c.1157G>T NM_170707(LMNA):c.1157G>T HIFD substitution exon 1 HIFD_LMNA:c.775T>C NM_170707(LMNA):c.775T>C HIFD substitution exon 1 HIFD_LMNA:c.815_818delACAAinsCCAGAC NM_170707(LMNA):c.815_818delACAAinsCCAGAC HIFD complex exon 1 HIFD_LMNA:c.1063C>T NM_170707(LMNA):c.1063C>T HIFD substitution exon 1 HIFD_LMNA:c.992G>A NM_170707(LMNA):c.992G>A HIFD substitution exon 1 HIFD_LMNA:c.1294C>T NM_170707(LMNA):c.1294C>T HIFD substitution exon 1 HIFD_LMNA:c.1318G>A NM_170707(LMNA):c.1318G>A HIFD substitution exon 1 HIFD_LMNA:c.406G>C NM_170707(LMNA):c.406G>C HIFD substitution exon 1 HIFD_LMNA:c.11C>G NM_170707(LMNA):c.11C>G HIFD substitution exon 1 HIFD_LMNA:c.1762T>C NM_170707(LMNA):c.1762T>C HIFD substitution exon 1 HIFD_LMNA:c.475G>A NM_170707(LMNA):c.475G>A HIFD substitution exon 1 HIFD_LMNA:c.1303C>T NM_170707(LMNA):c.1303C>T HIFD substitution exon 1 HIFD_LMNA:c.1057C>A NM_170707(LMNA):c.1057C>A HIFD substitution exon 1 HIFD_LMNA:c.575A>T NM_170707(LMNA):c.575A>T HIFD substitution exon 1 HIFD_LMNA:c.1102_1130dup29 NM_170707(LMNA):c.1102_1130dup29 HIFD duplication exon 1 HIFD_LMNA:c.788T>C NM_170707(LMNA):c.788T>C HIFD substitution exon 1 HIFD_LMNA:c.565C>T NM_170707(LMNA):c.565C>T HIFD substitution exon 1 HIFD_LMNA:c.115A>T NM_170707(LMNA):c.115A>T HIFD substitution exon 1 HIFD_LMNA:c.357C>T NM_170707(LMNA):c.357C>T HIFD substitution exon 1 HIFD_LMNA:c.568_570dupCGG NM_170707(LMNA):c.568_570dupCGG HIFD duplication exon 1 HIFD_LMNA:c.618C>G NM_170707(LMNA):c.618C>G HIFD substitution exon 1 HIFD_LMNA:c.802T>C NM_170707(LMNA):c.802T>C HIFD substitution exon 1 HIFD_LMNA:c.810G>A NM_170707(LMNA):c.810G>A HIFD substitution exon 1 HIFD_LMNA:c.810+1G>A NM_170707(LMNA):c.810+1G>A HIFD substitution intron 1 HIFD_LMNA:c.883T>C NM_170707(LMNA):c.883T>C HIFD substitution exon 1 HIFD_LMNA:c.1081G>A NM_170707(LMNA):c.1081G>A HIFD substitution exon 1 HIFD_LMNA:c.1064_1066delAGC NM_170707(LMNA):c.1064_1066delAGC HIFD deletion exon 1 HIFD_LMNA:c.1158-2A>G NM_170707(LMNA):c.1158-2A>G HIFD substitution intron 1 HIFD_LMNA:c.1346G>A NM_170707(LMNA):c.1346G>A HIFD substitution exon 1 HIFD_LMNA:c.1361T>C NM_170707(LMNA):c.1361T>C HIFD substitution exon 1 HIFD_LMNA:c.1399T>C NM_170707(LMNA):c.1399T>C HIFD substitution exon 1 HIFD_LMNA:c.1488+1G>A NM_170707(LMNA):c.1488+1G>A HIFD substitution intron 1 HIFD_LMNA:c.[745C>T; 1930C>T] NM_170707(LMNA):c.[745C>T; 1930C>T] HIFD substitution exon 1 HIFD_LMNA:c.812T>C NM_170707(LMNA):c.812T>C HIFD substitution exon 1 HIFD_LMNA:c.[1381-1G>T; 1381G>T] NM_170707(LMNA):c.[1381-1G>T; 1381G>T] HIFD substitution not within known transcription unit 1 HIFD_LMNA:c.1526dupC NM_170707(LMNA):c.1526dupC HIFD duplication exon 1 HIFD_LMNA:c.566_567delGGinsCC NM_170707(LMNA):c.566_567delGGinsCC HIFD complex exon 1 HIFD_LMNA:c.104T>C NM_170707(LMNA):c.104T>C HIFD substitution exon 1 HIFD_LMNA:c.1621C>G NM_170707(LMNA):c.1621C>G HIFD substitution exon 1 HIFD_LMNA:c.937-11C>G NM_170707(LMNA):c.937-11C>G HIFD substitution intron 1 HIFD_LMNA:c.348_349insG NM_170707(LMNA):c.348_349insG HIFD insertion exon 1 HIFD_LMNA:c.1232G>A NM_170707(LMNA):c.1232G>A HIFD substitution exon 1 HIFD_LMNA:c.1892G>A NM_170707(LMNA):c.1892G>A HIFD substitution exon 1 HIFD_LMNA:c.412G>A NM_170707(LMNA):c.412G>A HIFD substitution exon 1 HIFD_LMNA:c.1711C>A NM_005572(LMNA):c.1711C>A HIFD substitution exon 1 HIFD_LMNA:c.1711C>T NM_005572(LMNA):c.1711C>T HIFD substitution exon 1 HIFD_LMNB2:c.644G>A NM_032737(LMNB2):c.644G>A HIFD substitution exon 1 HIFD_LMNB2:c.205-6C>T NM_032737(LMNB2):c.205-6C>T HIFD substitution intron 1 HIFD_LMNB2:c.1219G>A NM_032737(LMNB2):c.1219G>A HIFD substitution exon 1 HIFD_BFSP2:c.859C>T NM_003571(BFSP2):c.859C>T HIFD substitution exon 1 HIFD_BFSP2:c.697_699delGAA NM_003571(BFSP2):c.697_699delGAA HIFD deletion exon 1 HIFD_KRT12:c.55C>T NM_000223(KRT12):c.55C>T HIFD substitution exon 1 HIFD_KRT12:c.43C>T NM_000223(KRT12):c.43C>T HIFD substitution exon 1 HIFD_KRT12:c.*360A>C NM_000223(KRT12):c.*360A>C HIFD substitution 3' UTR 1 HIFD_KRT14:c.369T>C NM_000526(KRT14):c.369T>C HIFD substitution exon 1 HIFD_KRT14:c.[556G>A]+[1237G>A] NM_000526(KRT14):c.[556G>A]+[1237G>A] HIFD substitution exon 1 HIFD_KRT14:c.88C>T NM_000526(KRT14):c.88C>T HIFD substitution exon 1 HIFD_KRT14:c.231C>T NM_000526(KRT14):c.231C>T HIFD substitution exon 1 HIFD_KRT14:c.280G>A NM_000526(KRT14):c.280G>A HIFD substitution exon 1 HIFD_KRT14:c.6C>T NM_000526(KRT14):c.6T>C HIFD substitution exon 1 HIFD_KRT14:c.188A>G NM_000526(KRT14):c.188A>G HIFD substitution exon 1 HIFD_KRT14:c.189C>T NM_000526(KRT14):c.189C>T HIFD substitution exon 1 HIFD_KRT14:c.193C>T NM_000526(KRT14):c.193C>T HIFD substitution exon 1 HIFD_KRT14:c.1322-13A>G NM_000526(KRT14):c.1322-13A>G HIFD substitution intron 1 HIFD_KRT17:c.309T>C NM_000422(KRT17):c.309T>C HIFD substitution exon 1 HIFD_KRT18:c.418-4C>G NM_000224(KRT18):c.418-4C>G HIFD substitution intron 1 HIFD_KRT18:c.689G>C NM_000224(KRT18):c.689G>C HIFD substitution exon 1 HIFD_KRT18:c.993C>T NM_000224(KRT18):c.993C>T HIFD substitution exon 1 HIFD_KRT18:c.-15C>T NM_000224(KRT18):c.-15C>T HIFD substitution 5' UTR 1 HIFD_KRT18:c.500+38G>A NM_000224(KRT18):c.500+38G>A HIFD substitution intron 1 HIFD_KRT19:c.-99G>C NM_002276(KRT19):c.-99G>C HIFD substitution 5' UTR 1 HIFD_KRT19:c.685G>A NM_002276(KRT19):c.685G>A HIFD substitution exon 1 HIFD_KRT19:c.179C>G NM_002276(KRT19):c.179C>G HIFD substitution exon 1 HIFD_KRT19:c.90C>T NM_002276(KRT19):c.90C>T HIFD substitution exon 1 HIFD_KRT19:c.471T>C NM_002276(KRT19):c.471T>C HIFD substitution exon 1 HIFD_KRT19:c.552C>T NM_002276(KRT19):c.552C>T HIFD substitution exon 1 HIFD_KRT31:c.1097+1G>A NM_002277(KRT31):c.1097+1G>A HIFD substitution intron 1 HIFD_KRT9:c.426A>C NM_000226(KRT9):c.426A>C HIFD substitution exon 1 HIFD_KRT9:c.216C>T NM_000226(KRT9):c.216C>T HIFD substitution exon 1 HIFD_KRT9:c.429A>C NM_000226(KRT9):c.429A>C HIFD substitution exon 1 HIFD_KRT1:c.720G>A NM_006121(KRT1):c.720G>A HIFD substitution exon 1 HIFD_KRT1:c.1389C>T NM_006121(KRT1):c.1389C>T HIFD substitution exon 1 HIFD_KRT1:c.1413C>A NM_006121(KRT1):c.1413C>A HIFD substitution exon 1 HIFD_KRT1:c.1657_1677del21 NM_006121(KRT1):c.1657_1677del21 HIFD deletion exon 1 HIFD_KRT1:c.1570_1596del27 NM_006121(KRT1):c.1570_1596del27 HIFD deletion exon 1 HIFD_KRT1:c.800G>A NM_006121(KRT1):c.800G>A HIFD substitution exon 1 HIFD_KRT1:c.1762G>A NM_006121(KRT1):c.1762A>G HIFD substitution exon 1 HIFD_KRT1:c.1360G>T NM_006121(KRT1):c.1360G>T HIFD substitution exon 1 HIFD_KRT1:c.963+52T>G NM_006121(KRT1):c.963+52T>G HIFD substitution intron 1 HIFD_KRT1:c.75C>T NM_006121(KRT1):c.75C>T HIFD substitution exon 1 HIFD_KRT1:c.868-31T>C NM_006121(KRT1):c.868-31T>C HIFD substitution intron 1 HIFD_KRT1:c.1072A>T NM_006121(KRT1):c.1072T>A HIFD substitution exon 1 HIFD_KRT1:c.720A>G NM_006121(KRT1):c.720G>A HIFD substitution exon 1 HIFD_KRT5:c.237A>T NM_000424(KRT5):c.237T>A HIFD substitution exon 1 HIFD_KRT5:c.591C>A NM_000424(KRT5):c.591C>A HIFD substitution exon 1 HIFD_KRT5:c.1159A>T NM_000424(KRT5):c.1159T>A HIFD substitution exon 1 HIFD_KRT5:c.240A>T NM_000424(KRT5):c.240T>A HIFD substitution exon 1 HIFD_KRT5:c.594C>T NM_000424(KRT5):c.594C>T HIFD substitution exon 1 HIFD_KRT5:c.630T>C NM_000424(KRT5):c.630T>C HIFD substitution exon 1 HIFD_KRT5:c.382G>C NM_000424(KRT5):c.382G>C HIFD substitution exon 1 HIFD_KRT5:c.513G>A NM_000424(KRT5):c.513G>A HIFD substitution exon 1 HIFD_KRT5:c.732G>A NM_000424(KRT5):c.732G>A HIFD substitution exon 1 HIFD_KRT5:c.1065A>C NM_000424(KRT5):c.1065A>C HIFD substitution exon 1 HIFD_KRT5:c.1582A>G NM_000424(KRT5):c.1582A>G HIFD substitution exon 1 HIFD_KRT5:c.1627G>A NM_000424(KRT5):c.1627G>A HIFD substitution exon 1 HIFD_KRT5:c.1692C>A NM_000424(KRT5):c.1692C>A HIFD substitution exon 1 HIFD_KRT5:c.1755G>A NM_000424(KRT5):c.1755G>A HIFD substitution exon 1 HIFD_KRT5:c.555+9C>T NM_000424(KRT5):c.555+9C>T HIFD substitution intron 1 HIFD_KRT5:c.594C>A NM_000424(KRT5):c.594C>A HIFD substitution exon 1 HIFD_KRT5:c.548C>T NM_000424(KRT5):c.548T>C HIFD substitution exon 1 HIFD_KRT5:c.556-1G>T NM_000424(KRT5):c.556-1G>T HIFD substitution intron 1 HIFD_KRT75:c.481G>A NM_004693(KRT75):c.481G>A HIFD substitution exon 1 HIFD_KRT8:c.681A>G NM_002273(KRT8):c.681A>G HIFD substitution exon 1 HIFD_KRT8:c.216G>A NM_002273(KRT8):c.216G>A HIFD substitution exon 1 HIFD_KRT8:c.955G>T NM_002273(KRT8):c.955G>T HIFD substitution exon 1 HIFD_KRT8:c.*8C>T NM_002273(KRT8):c.*8C>T HIFD substitution 3' UTR 1 HIFD_KRT8:c.*31C>T NM_002273(KRT8):c.*31C>T HIFD substitution 3' UTR 1 HIFD_KRT8:c.*38G>A NM_002273(KRT8):c.*38G>A HIFD substitution 3' UTR 1 HIFD_KRT8:c.1261+10delC NM_002273(KRT8):c.1261+10delC HIFD deletion intron 1 HIFD_KRT8:c.1261+20G>A NM_002273(KRT8):c.1261+20G>A HIFD substitution intron 1 HIFD_KRT81:c.1053T>C NM_002281(KRT81):c.1053T>C HIFD substitution exon 1 HIFD_KRT81:c.1077A>G NM_002281(KRT81):c.1077A>G HIFD substitution exon 1 HIFD_KRT81:c.1027-13_1027-14insT NM_002281(KRT81):c.1027-13_1027-14insT HIFD insertion intron 1 HIFD_KRT81:c.735+4C>T NM_002281(KRT81):c.735+4C>T HIFD substitution intron 1 HIFD_KRT83:c.445T>C NM_002282(KRT83):c.445T>C HIFD substitution exon 1 HIFD_KRT83:c.558C>T NM_002282(KRT83):c.558C>T HIFD substitution exon 1 HIFD_KRT86:c.197G>A NM_002284(KRT86):c.197G>A HIFD substitution exon 1 HIFD_KRT86:c.348G>A NM_002284(KRT86):c.348G>A HIFD substitution exon 1 HIFD_KRT86:c.416A>C NM_002284(KRT86):c.416A>C HIFD substitution exon 1 HIFD_GFAP:c.-518T>A NM_002055(GFAP):c.-518T>A HIFD substitution 5' UTR 1 HIFD_GFAP:c.-264C>A NM_002055(GFAP):c.-264C>A HIFD substitution 5' UTR 1 HIFD_GFAP:c.858G>A NM_002055(GFAP):c.858G>A HIFD substitution exon 1 HIFD_GFAP:c.883G>A NM_002055(GFAP):c.883G>A HIFD substitution exon 1 HIFD_GFAP:c.140C>T NM_002055(GFAP):c.140C>T HIFD substitution exon 1 HIFD_GFAP:c.619-12C>T NM_002055(GFAP):c.619-12C>T HIFD substitution intron 1 HIFD_GFAP:c.523-9C>G NM_002055(GFAP):c.523-9C>G HIFD substitution intron 1 HIFD_GFAP:c.1128-66C>G NM_002055(GFAP):c.1128-66C>G HIFD substitution intron 1 HIFD_GFAP:c.96T>C NM_002055(GFAP):c.96T>C HIFD substitution exon 1 HIFD_GFAP:c.907-100A>C NM_002055(GFAP):c.907-100A>C HIFD substitution intron 1 HIFD_GFAP:c.1258-86C>T NM_002055(GFAP):c.1258-86C>T HIFD substitution intron 1 HIFD_GFAP:c.*28C>G NM_002055(GFAP):c.*28C>G HIFD substitution 3' UTR 1 HIFD_GFAP:c.*33C>G NM_002055(GFAP):c.*33C>G HIFD substitution 3' UTR 1 HIFD_GFAP:c.619-96G>T NM_002055(GFAP):c.619-96G>T HIFD substitution intron 1 HIFD_GFAP:c.781-826G>A NM_002055(GFAP):c.781-826G>A HIFD substitution intron 1 HIFD_GFAP:c.1128-151C>T NM_002055(GFAP):c.1128-151C>T HIFD substitution intron 1 HIFD_GFAP:c.1171+471C>T NM_002055(GFAP):c.1171+471C>T HIFD substitution intron 1 HIFD_GFAP:c.1171+501C>A NM_002055(GFAP):c.1171+501C>A HIFD substitution intron 1 HIFD_GFAP:c.1172-306A>G NM_002055(GFAP):c.1172-306A>G HIFD substitution intron 1 HIFD_GFAP:c.523-76G>C NM_002055(GFAP):c.523-76G>C HIFD substitution intron 1 HIFD_GFAP:c.906+81A>G NM_002055(GFAP):c.906+81A>G HIFD substitution intron 1 HIFD_GFAP:c.*32C>G NM_002055(GFAP):c.*32C>G HIFD substitution 3' UTR 1 HIFD_PRPH:c.26G>A NM_006262(PRPH):c.26G>A HIFD substitution exon 1 HIFD_PRPH:c.63C>T NM_006262(PRPH):c.63C>T HIFD substitution exon 1 HIFD_PRPH:c.829G>A NM_006262(PRPH):c.829G>A HIFD substitution exon 1 HIFD_PRPH:c.1083C>G NM_006262(PRPH):c.1083C>G HIFD substitution exon 1 HIFD_PRPH:c.1108A>G NM_006262(PRPH):c.1108G>A HIFD substitution exon 1 HIFD_PRPH:c.-23G>C NM_006262(PRPH):c.-23G>C HIFD substitution 5' UTR 1 HIFD_PRPH:c.545+69G>C NM_006262(PRPH):c.545+69G>C HIFD substitution intron 1 HIFD_PRPH:c.607-77A>C NM_006262(PRPH):c.607-77A>C HIFD substitution intron 1 HIFD_PRPH:c.1217+27C>A NM_006262(PRPH):c.1217+27C>A HIFD substitution intron 1 HIFD_PRPH:c.1217+43C>A NM_006262(PRPH):c.1217+43C>A HIFD substitution intron 1 HIFD_PRPH:c.1267+58T>C NM_006262(PRPH):c.1267+58T>C HIFD substitution intron 1 HIFD_PRPH:c.1348-36_1348-35insA NM_006262(PRPH):c.1348-36_1348-35insA HIFD insertion intron 1 HIFD_PRPH:c.702+27T>C NM_006262(PRPH):c.702+27T>C HIFD substitution intron 1 HIFD_PRPH:c.606+52T>G NM_006262(PRPH):c.606+52T>G HIFD substitution intron 1 HIFD_PRPH:c.1107A>G NM_006262(PRPH):c.1107A>G HIFD substitution exon 1 HIFD_PRPH:c.*82C>A NM_006262(PRPH):c.*82C>A HIFD substitution 3' UTR 1 HIFD_NEF3:c.387T>G NM_005382(NEF3):c.387T>G HIFD substitution exon 1 HIFD_NEF3:c.1104T>C NM_005382(NEF3):c.1104T>C HIFD substitution exon 1 HIFD_NEF3:c.1420A>G NM_005382(NEF3):c.1420A>G HIFD substitution exon 1 HIFD_NEF3:c.447G>C NM_005382(NEF3):c.447G>C HIFD substitution exon 1 HIFD_NEF3:c.2174C>A NM_005382(NEF3):c.2174C>A HIFD substitution exon 1 HIFD_NEF3:c.2485_2487delGTT NM_005382(NEF3):c.2485_2487delGTT HIFD deletion exon 1 HIFD_NEFH:c.1844C>T NM_021076(NEFH):c.1844C>T HIFD substitution exon 1 HIFD_NEFH:c.472C>T NM_021076(NEFH):c.472C>T HIFD substitution exon 1 HIFD_NEFH:c.1203T>C NM_021076(NEFH):c.1203T>C HIFD substitution exon 1 HIFD_NEFH:c.2414C>A NM_021076(NEFH):c.2414A>C HIFD substitution exon 1 HIFD_NEFH:c.1375G>A NM_021076(NEFH):c.1375G>A HIFD substitution exon 1 HIFD_NEFH:c.1387G>A NM_021076(NEFH):c.1387G>A HIFD substitution exon 1 HIFD_NEFH:c.2232C>T NM_021076(NEFH):c.2232C>T HIFD substitution exon 1 HIFD_NEFH:c.2234A>T NM_021076(NEFH):c.2234A>T HIFD substitution exon 1 HIFD_NEFH:c.2414A>C NM_021076(NEFH):c.2414A>C HIFD substitution exon 1 HIFD_NEFH:c.2784A>G NM_021076(NEFH):c.2784A>G HIFD substitution exon 1 HIFD_NEFL:c.667C>T NM_006158(NEFL):c.667C>T HIFD substitution exon 1 HIFD_NEFL:c.1492G>A NM_006158(NEFL):c.1492G>A HIFD substitution exon 1 HIFD_NEFL:c.227T>C NM_006158(NEFL):c.227T>C HIFD substitution exon 1 HIFD_NEFL:c.279G>A NM_006158(NEFL):c.279G>A HIFD substitution exon 1 HIFD_NEFL:c.-44_-42delGGCinsATG NM_006158(NEFL):c.-44_-42delGGCinsATG HIFD complex 5' UTR 1 HIFD_NEFL:c.189G>A NM_006158(NEFL):c.189G>A HIFD substitution exon 1 HIFD_NEFL:c.123C>T NM_006158(NEFL):c.123C>T HIFD substitution exon 1 HIFD_NEFL:c.1212C>T NM_006158(NEFL):c.1212C>T HIFD substitution exon 1 HIFD_NEFL:c.1458C>T NM_006158(NEFL):c.1458C>T HIFD substitution exon 1 HIFD_NEFL:c.720C>T NM_006158(NEFL):c.720C>T HIFD substitution exon 1 HIFD_NEFL:c.423G>A NM_006158(NEFL):c.423G>A HIFD substitution exon 1 HIFD_NEFL:c.1045-23_1045-22insT NM_006158(NEFL):c.1045-23_1045-22insT HIFD insertion intron 1 HIFD_NEFL:c.45G>A NM_006158(NEFL):c.45G>A HIFD substitution exon 1 HIFD_NEFL:c.969G>T NM_006158(NEFL):c.969G>T HIFD substitution exon 1 HIFD_NEFL:c.1560C>A NM_006158(NEFL):c.1560C>A HIFD substitution exon 1 HIFD_NEFL:c.-48_-47delTC NM_006158(NEFL):c.-48_-47delTC HIFD deletion 5' UTR 1 HIFD_NEFL:c.1590T>G NM_006158(NEFL):c.1590T>G HIFD substitution exon 1 HIFD_NEFL:c.1329C>A NM_006158(NEFL):c.1329C>A HIFD substitution exon 1 HIFD_NEFL:c.227T>A NM_006158(NEFL):c.227T>A HIFD substitution exon 1 HIFD_LMNA:c.51C>T NM_170707(LMNA):c.51C>T HIFD substitution exon 1 HIFD_LMNA:c.861T>C NM_170707(LMNA):c.861T>C HIFD substitution exon 1 HIFD_LMNA:c.1338T>C NM_170707(LMNA):c.1338T>C HIFD substitution exon 1 HIFD_LMNA:c.810+13G>T NM_170707(LMNA):c.810+13G>T HIFD substitution intron 1 HIFD_LMNA:c.1489-41C>T NM_170707(LMNA):c.1489-41C>T HIFD substitution intron 1 HIFD_LMNA:c.1609-5A>G NM_170707(LMNA):c.1609-5A>G HIFD substitution intron 1 HIFD_LMNA:c.1908C>T NM_170707(LMNA):c.1908C>T HIFD substitution exon 1 HIFD_LMNA:c.1157+16G>A NM_170707(LMNA):c.1157+16G>A HIFD substitution intron 1 HIFD_LMNA:c.1028G>A NM_170707(LMNA):c.1028G>A HIFD substitution exon 1 HIFD_LMNA:c.723G>A NM_170707(LMNA):c.723G>A HIFD substitution exon 1 HIFD_LMNA:c.810+61C>T NM_170707(LMNA):c.810+61C>T HIFD substitution intron 1 HIFD_LMNA:c.1098G>A NM_170707(LMNA):c.1098G>A HIFD substitution exon 1 HIFD_LMNA:c.1299C>T NM_170707(LMNA):c.1299C>T HIFD substitution exon 1 HIFD_LMNA:c.612G>A NM_170707(LMNA):c.612G>A HIFD substitution exon 1 HIFD_LMNA:c.*79G>C NM_170707(LMNA):c.*79G>C HIFD substitution 3' UTR 1 HIFD_LMNA:c.937-7C>G NM_170707(LMNA):c.937-7C>G HIFD substitution intron 1 HIFD_LMNA:c.357-20C>T NM_170707(LMNA):c.357-20C>T HIFD substitution intron 1 HIFD_LMNA:c.811-13T>A NM_170707(LMNA):c.811-13T>A HIFD substitution intron 1 HIFD_LMNA:c.1968+26A>G NM_170707(LMNA):c.1968+26A>G HIFD substitution intron 1 HIFD_LMNA:c.*27G>A NM_170707(LMNA):c.*27G>A HIFD substitution 3' UTR 1 HIFD_LMNA:c.1381-8C>G NM_170707(LMNA):c.1381-8C>G HIFD substitution intron 1 HIFD_LMNA:c.896T>C NM_170707(LMNA):c.896T>C HIFD substitution exon 1 HIFD_LMNA:c.640-10A>C NM_170707(LMNA):c.640-10A>C HIFD substitution intron 1 HIFD_LMNA:c.811-10T>A NM_170707(LMNA):c.811-10T>A HIFD substitution intron 1 HIFD_LMNA:c.1158-38G>A NM_170707(LMNA):c.1158-38G>A HIFD substitution intron 1 HIFD_LMNB1:c.414T>C NM_005573(LMNB1):c.414T>C HIFD substitution exon 1 HIFD_LMNB1:c.852T>C NM_005573(LMNB1):c.852T>C HIFD substitution exon 1 HIFD_LMNB1:c.1502C>T NM_005573(LMNB1):c.1502C>T HIFD substitution exon 1 HIFD_LMNB1:c.*18C>T NM_005573(LMNB1):c.*18C>T HIFD substitution 3' UTR 1 HIFD_LMNB1:c.*43C>T NM_005573(LMNB1):c.*43C>T HIFD substitution 3' UTR 1 HIFD_LMNB2:c.82G>A NM_032737(LMNB2):c.82G>A HIFD substitution exon 1 TP53_g.12512G>A NM_000546:g.12512G>A IARC TP53 substitution exon 1 TP53_g.12416T>C NM_000546:g.12416T>C IARC TP53 substitution exon 1 TP53_g.12382A>C NM_000546:g.12382A>C IARC TP53 substitution exon 1 TP53_g.13833G>A NM_000546:g.13833G>A IARC TP53 substitution exon 1 TP53_g.13384G>C NM_000546:g.13384G>C IARC TP53 substitution exon 1 TP53_g.13819G>A NM_000546:g.13819G>A IARC TP53 substitution exon 1 TP53_g.12457G>T NM_000546:g.12457G>T IARC TP53 substitution exon 1 TP53_g.13384G>T NM_000546:g.13384G>T IARC TP53 substitution exon 1 TP53_g.13836_13843del NM_000546:g.13836_13843del IARC TP53 deletion exon 1 TP53_g.13798G>A NM_000546:g.13798G>A IARC TP53 substitution exon 1 TP53_g.12443C>T NM_000546:g.12443C>T IARC TP53 substitution exon 1 TP53_g.12515G>T NM_000546:g.12515G>T IARC TP53 substitution exon 1 TP53_g.12451A>G NM_000546:g.12451A>G IARC TP53 substitution exon 1 TP53_g.13359C>T NM_000546:g.13359C>T IARC TP53 substitution exon 1 TP53_g.13380G>A NM_000546:g.13380G>A IARC TP53 substitution exon 1 TP53_g.12439del NM_000546:g.12439del IARC TP53 deletion exon 1 TP53_g.12523C>A NM_000546:g.12523C>A IARC TP53 substitution exon 1 TP53_g.13382A>G NM_000546:g.13382A>G IARC TP53 substitution exon 1 TP53_g.12650T>G NM_000546:g.12650T>G IARC TP53 substitution exon 1 TP53_g.13373A>G NM_000546:g.13373A>G IARC TP53 substitution exon 1 TP53_g.13826G>A NM_000546:g.13826G>A IARC TP53 substitution exon 1 TP53_g.13827del NM_000546:g.13827del IARC TP53 deletion exon 1 TP53_g.13794G>A NM_000546:g.13794G>A IARC TP53 substitution exon 1 TP53_g.12655C>T NM_000546:g.12655C>T IARC TP53 substitution exon 1 TP53_g.12727T>C NM_000546:g.12727T>C IARC TP53 substitution exon 1 TP53_g.12444G>A NM_000546:g.12444G>A IARC TP53 substitution exon 1 TP53_g.13820A>T NM_000546:g.13820A>T IARC TP53 substitution exon 1 TP53_g.13810G>A NM_000546:g.13810G>A IARC TP53 substitution exon 1 TP53_g.12523C>T NM_000546:g.12523C>T IARC TP53 substitution exon 1 TP53_g.12410G>A NM_000546:g.12410G>A IARC TP53 substitution exon 1 TP53_g.13353A>G NM_000546:g.13353A>G IARC TP53 substitution exon 1 TP53_g.13379C>T NM_000546:g.13379C>T IARC TP53 substitution exon 1 TP53_g.12384_12385delinsCT NM_000546:g.12384_12385delinsCT IARC TP53 complex exon 1 TP53_g.13822A>G NM_000546:g.13822A>G IARC TP53 substitution exon 1 TP53_g.13797C>T NM_000546:g.13797C>T IARC TP53 substitution exon 1 TP53_g.12715G>A NM_000546:g.12715G>A IARC TP53 substitution exon 1 TP53_g.12390T>A NM_000546:g.12390T>A IARC TP53 substitution exon 1 TP53_g.13997C>T NM_000546:g.13997C>T IARC TP53 substitution exon 1 TP53_g.13857del NM_000546:g.13857del IARC TP53 deletion exon 1 TP53_g.12649C>T NM_000546:g.12649C>T IARC TP53 substitution exon 1 TP53_g.12490_12520del NM_000546:g.12490_12520del IARC TP53 deletion exon 1 TP53_g.12511C>A NM_000546:g.12511C>A IARC TP53 substitution exon 1 TP53_g.13367G>A NM_000546:g.13367G>A IARC TP53 substitution exon 1 TP53_g.11559C>T NM_000546:g.11559C>T IARC TP53 substitution exon 1 TP53_g.17950del NM_000546:g.17950del IARC TP53 deletion exon 1 TP53_g.12401C>T NM_000546:g.12401C>T IARC TP53 substitution exon 1 TP53_g.13824C>T NM_000546:g.13824C>T IARC TP53 substitution exon 1 TP53_g.12374C>A NM_000546:g.12374C>A IARC TP53 substitution exon 1 TP53_g.12462C>T NM_000546:g.12462C>T IARC TP53 substitution exon 1 TP53_g.13791G>A NM_000546:g.13791G>A IARC TP53 substitution exon 1 TP53_g.13352A>G NM_000546:g.13352A>G IARC TP53 substitution exon 1 TP53_g.12412del NM_000546:g.12412del IARC TP53 deletion exon 1 TP53_g.12511C>G NM_000546:g.12511C>G IARC TP53 substitution exon 1 TP53_g.11490_11497del NM_000546:g.11490_11497del IARC TP53 deletion exon 1 TP53_g.13324T>A NM_000546:g.13324T>A IARC TP53 substitution exon 1 TP53_g.13348G>A NM_000546:g.13348G>A IARC TP53 substitution exon 1 TP53_g.12647A>G NM_000546:g.12647A>G IARC TP53 substitution exon 1 TP53_g.13810G>T NM_000546:g.13810G>T IARC TP53 substitution exon 1 TP53_g.12449G>T NM_000546:g.12449G>T IARC TP53 substitution exon 1 TP53_g.12505G>T NM_000546:g.12505G>T IARC TP53 substitution exon 1 TP53_g.12686del NM_000546:g.12686del IARC TP53 deletion exon 1 TP53_g.12706C>T NM_000546:g.12706C>T IARC TP53 substitution exon 1 TP53_g.12515G>A NM_000546:g.12515G>A IARC TP53 substitution exon 1 TP53_g.30017_30018ins25 NM_000546:g.30017_30018ins25 IARC TP53 insertion exon 1 TP53_g.12683A>G NM_000546:g.12683A>G IARC TP53 substitution exon 1 TP53_g.13823C>G NM_000546:g.13823C>G IARC TP53 substitution exon 1 TP53_g.12518C>G NM_000546:g.12518C>G IARC TP53 substitution exon 1 TP53_g.13332T>G NM_000546:g.13332T>G IARC TP53 substitution exon 1 TP53_g.12443_12444ins1 NM_000546:g.12443_12444ins1 IARC TP53 insertion exon 1 TP53_g.13803_13804ins1 NM_000546:g.13803_13804ins1 IARC TP53 insertion exon 1 TP53_g.12506T>G NM_000546:g.12506T>G IARC TP53 substitution exon 1 TP53_g.12386T>A NM_000546:g.12386T>A IARC TP53 substitution exon 1 TP53_g.13409G>A NM_000546:g.13409G>A IARC TP53 substitution exon 1 TP53_g.12716T>A NM_000546:g.12716T>A IARC TP53 substitution exon 1 TP53_g.13344A>G NM_000546:g.13344A>G IARC TP53 substitution exon 1 TP53_g.12419A>C NM_000546:g.12419A>C IARC TP53 substitution exon 1 TP53_g.13338A>G NM_000546:g.13338A>G IARC TP53 substitution exon 1 TP53_g.30015_30029del NM_000546:g.30015_30029del IARC TP53 deletion exon 1 TP53_g.13350G>A NM_000546:g.13350G>A IARC TP53 substitution exon 1 TP53_g.12475T>C NM_000546:g.12475T>C IARC TP53 substitution exon 1 TP53_g.13839G>T NM_000546:g.13839G>T IARC TP53 substitution exon 1 TP53_g.13397_13398delinsGA NM_000546:g.13397_13398delinsGA IARC TP53 complex exon 1 TP53_g.14045_14058del NM_000546:g.14045_14058del IARC TP53 deletion exon 1 TP53_g.12461G>A NM_000546:g.12461G>A IARC TP53 substitution exon 1 TP53_g.12707G>A NM_000546:g.12707G>A IARC TP53 substitution exon 1 TP53_g.13337T>C NM_000546:g.13337T>C IARC TP53 substitution exon 1 TP53_g.13403A>G NM_000546:g.13403A>G IARC TP53 substitution exon 1 TP53_g.13413A>G NM_000546:g.13413A>G IARC TP53 substitution exon 1 TP53_g.13415T>G NM_000546:g.13415T>G IARC TP53 substitution exon 1 TP53_g.13347T>G NM_000546:g.13347T>G IARC TP53 substitution exon 1 TP53_g.13367G>T NM_000546:g.13367G>T IARC TP53 substitution exon 1 TP53_g.13359C>G NM_000546:g.13359C>G IARC TP53 substitution exon 1 TP53_g.13371G>C NM_000546:g.13371G>C IARC TP53 substitution exon 1 TP53_g.13872G>T NM_000546:g.13872G>T IARC TP53 substitution exon 1 TP53_g.12536C>G NM_000546:g.12536C>G IARC TP53 substitution exon 1 TP53_g.13343_13366del NM_000546:g.13343_13366del IARC TP53 deletion exon 1 TP53_g.13827C>T NM_000546:g.13827C>T IARC TP53 substitution exon 1 TP53_g.12728A>G NM_000546:g.12728A>G IARC TP53 substitution exon 1 TP53_g.13836G>A NM_000546:g.13836G>A IARC TP53 substitution exon 1 TP53_g.12392G>A NM_000546:g.12392G>A IARC TP53 substitution exon 1 TP53_g.12700A>G NM_000546:g.12700A>G IARC TP53 substitution exon 1 TP53_g.13361T>C NM_000546:g.13361T>C IARC TP53 substitution exon 1 TP53_g.12439C>T NM_000546:g.12439C>T IARC TP53 substitution exon 1 TP53_g.13338A>C NM_000546:g.13338A>C IARC TP53 substitution exon 1 TP53_g.12505G>C NM_000546:g.12505G>C IARC TP53 substitution exon 1 TP53_g.12384G>C NM_000546:g.12384G>C IARC TP53 substitution exon 1 TP53_g.12405G>C NM_000546:g.12405G>C IARC TP53 substitution exon 1 TP53_g.12400_12417del NM_000546:g.12400_12417del IARC TP53 deletion exon 1 TP53_g.13348G>T NM_000546:g.13348G>T IARC TP53 substitution exon 1 TP53_g.12455G>C NM_000546:g.12455G>C IARC TP53 substitution exon 1 TP53_g.13764_13787del NM_000546:g.13764_13787del IARC TP53 deletion exon 1 TP53_g.13798G>T NM_000546:g.13798G>T IARC TP53 substitution exon 1 TP53_g.13377A>T NM_000546:g.13377A>T IARC TP53 substitution exon 1 TP53_g.12384G>T NM_000546:g.12384G>T IARC TP53 substitution exon 1 TP53_g.13828G>C NM_000546:g.13828G>C IARC TP53 substitution exon 1 TP53_g.13777G>T NM_000546:g.13777G>T IARC TP53 substitution exon 1 TP53_g.13308A>T NM_000546:g.13308A>T IARC TP53 substitution intron 1 TP53_g.13798G>C NM_000546:g.13798G>C IARC TP53 substitution exon 1 TP53_g.12464C>T NM_000546:g.12464C>T IARC TP53 substitution exon 1 TP53_g.12525T>G NM_000546:g.12525T>G IARC TP53 substitution exon 1 TP53_g.13375G>C NM_000546:g.13375G>C IARC TP53 substitution exon 1 TP53_g.13362G>C NM_000546:g.13362G>C IARC TP53 substitution exon 1 TP53_g.13371G>T NM_000546:g.13371G>T IARC TP53 substitution exon 1 TP53_g.13812C>T NM_000546:g.13812C>T IARC TP53 substitution exon 1 TP53_g.12643C>T NM_000546:g.12643C>T IARC TP53 substitution exon 1 TP53_g.13813C>T NM_000546:g.13813C>T IARC TP53 substitution exon 1 TP53_g.12514T>A NM_000546:g.12514T>A IARC TP53 substitution exon 1 TP53_g.12422T>A NM_000546:g.12422T>A IARC TP53 substitution exon 1 TP53_g.12499G>T NM_000546:g.12499G>T IARC TP53 substitution exon 1 TP53_g.12646C>T NM_000546:g.12646C>T IARC TP53 substitution exon 1 TP53_g.13893A>T NM_000546:g.13893A>T IARC TP53 substitution exon 1 TP53_g.12524A>T NM_000546:g.12524A>T IARC TP53 substitution exon 1 TP53_g.12418C>T NM_000546:g.12418C>T IARC TP53 substitution exon 1 TP53_g.13789T>G NM_000546:g.13789T>G IARC TP53 substitution exon 1 TP53_g.13370G>A NM_000546:g.13370G>A IARC TP53 substitution exon 1 TP53_g.13380G>T NM_000546:g.13380G>T IARC TP53 substitution exon 1 TP53_g.12469G>A NM_000546:g.12469G>A IARC TP53 substitution exon 1 TP53_g.13863_13867del NM_000546:g.13863_13867del IARC TP53 deletion exon 1 TP53_g.12397_12403del NM_000546:g.12397_12403del IARC TP53 deletion exon 1 TP53_g.12507G>A NM_000546:g.12507G>A IARC TP53 substitution exon 1 TP53_g.13389T>G NM_000546:g.13389T>G IARC TP53 substitution exon 1 TP53_g.13390_13391ins4 NM_000546:g.13390_13391ins4 IARC TP53 insertion exon 1 TP53_g.11409C>T NM_000546:g.11409C>T IARC TP53 substitution exon 1 TP53_g.11376G>C NM_000546:g.11376G>C IARC TP53 substitution exon 1 TP53_g.11390G>T NM_000546:g.11390G>T IARC TP53 substitution exon 1 TP53_g.12680A>G NM_000546:g.12680A>G IARC TP53 substitution exon 1 TP53_g.12674G>T NM_000546:g.12674G>T IARC TP53 substitution exon 1 TP53_g.13825G>C NM_000546:g.13825G>C IARC TP53 substitution exon 1 TP53_g.12487del NM_000546:g.12487del IARC TP53 deletion exon 1 TP53_g.12683A>T NM_000546:g.12683A>T IARC TP53 substitution exon 1 TP53_g.12415del NM_000546:g.12415del IARC TP53 deletion exon 1 TP53_g.12715G>T NM_000546:g.12715G>T IARC TP53 substitution exon 1 TP53_g.13773C>T NM_000546:g.13773C>T IARC TP53 substitution exon 1 TP53_g.13383G>T NM_000546:g.13383G>T IARC TP53 substitution exon 1 TP53_g.12530G>A NM_000546:g.12530G>A IARC TP53 substitution exon 1 TP53_g.13795T>C NM_000546:g.13795T>C IARC TP53 substitution exon 1 TP53_g.14066G>A NM_000546:g.14066G>A IARC TP53 substitution intron 1 TP53_g.13838A>G NM_000546:g.13838A>G IARC TP53 substitution exon 1 TP53_g.13349T>A NM_000546:g.13349T>A IARC TP53 substitution exon 1 TP53_g.12442_12454del NM_000546:g.12442_12454del IARC TP53 deletion exon 1 TP53_g.12712A>G NM_000546:g.12712A>G IARC TP53 substitution exon 1 TP53_g.13398T>A NM_000546:g.13398T>A IARC TP53 substitution exon 1 TP53_g.12659T>G NM_000546:g.12659T>G IARC TP53 substitution exon 1 TP53_g.13371G>A NM_000546:g.13371G>A IARC TP53 substitution exon 1 TP53_g.11606G>A NM_000546:g.11606G>A IARC TP53 substitution exon 1 TP53_g.12383A>G NM_000546:g.12383A>G IARC TP53 substitution exon 1 TP53_g.13333_13334ins4 NM_000546:g.13333_13334ins4 IARC TP53 insertion exon 1 TP53_g.12534C>A NM_000546:g.12534C>A IARC TP53 substitution exon 1 TP53_g.12392G>C NM_000546:g.12392G>C IARC TP53 substitution exon 1 TP53_g.13801T>A NM_000546:g.13801T>A IARC TP53 substitution exon 1 TP53_g.13350G>T NM_000546:g.13350G>T IARC TP53 substitution exon 1 TP53_g.12715_12716delinsTG NM_000546:g.12715_12716delinsTG IARC TP53 complex exon 1 TP53_g.12707G>C NM_000546:g.12707G>C IARC TP53 substitution exon 1 TP53_g.12724_12727del NM_000546:g.12724_12727del IARC TP53 deletion exon 1 TP53_g.12538G>T NM_000546:g.12538G>T IARC TP53 substitution exon 1 TP53_g.12364T>A NM_000546:g.12364T>A IARC TP53 substitution exon 1 TP53_g.12529C>T NM_000546:g.12529C>T IARC TP53 substitution exon 1 TP53_g.13819G>C NM_000546:g.13819G>C IARC TP53 substitution exon 1 TP53_g.13804G>T NM_000546:g.13804G>T IARC TP53 substitution exon 1 TP53_g.11560G>T NM_000546:g.11560G>T IARC TP53 substitution exon 1 TP53_g.12461G>T NM_000546:g.12461G>T IARC TP53 substitution exon 1 TP53_g.12512G>T NM_000546:g.12512G>T IARC TP53 substitution exon 1 TP53_g.13319_13340del NM_000546:g.13319_13340del IARC TP53 deletion exon 1 TP53_g.13385C>T NM_000546:g.13385C>T IARC TP53 substitution exon 1 TP53_g.13853_13854ins1 NM_000546:g.13853_13854ins1 IARC TP53 insertion exon 1 TP53_g.12438_12439ins4 NM_000546:g.12438_12439ins4 IARC TP53 insertion exon 1 TP53_g.17968_17986del NM_000546:g.17968_17986del IARC TP53 deletion exon 1 TP53_g.12451_12459del NM_000546:g.12451_12459del IARC TP53 deletion exon 1 TP53_g.13375G>A NM_000546:g.13375G>A IARC TP53 substitution exon 1 TP53_g.11578C>G NM_000546:g.11578C>G IARC TP53 substitution exon 1 TP53_g.13332T>A NM_000546:g.13332T>A IARC TP53 substitution exon 1 TP53_g.12380A>T NM_000546:g.12380A>T IARC TP53 substitution exon 1 TP53_g.12710A>G NM_000546:g.12710A>G IARC TP53 substitution exon 1 TP53_g.12476A>G NM_000546:g.12476A>G IARC TP53 substitution exon 1 TP53_g.12482A>G NM_000546:g.12482A>G IARC TP53 substitution exon 1 TP53_g.16887del NM_000546:g.16887del IARC TP53 deletion exon 1 TP53_g.11493del NM_000546:g.11493del IARC TP53 deletion exon 1 TP53_g.12392del NM_000546:g.12392del IARC TP53 deletion exon 1 TP53_g.12653T>C NM_000546:g.12653T>C IARC TP53 substitution exon 1 TP53_g.13815del NM_000546:g.13815del IARC TP53 deletion exon 1 TP53_g.12514T>C NM_000546:g.12514T>C IARC TP53 substitution exon 1 TP53_g.13764G>A NM_000546:g.13764G>A IARC TP53 substitution exon 1 TP53_g.16915C>T NM_000546:g.16915C>T IARC TP53 substitution exon 1 TP53_g.13308A>C NM_000546:g.13308A>C IARC TP53 substitution intron 1 TP53_g.16892G>T NM_000546:g.16892G>T IARC TP53 substitution exon 1 TP53_g.14066G>T NM_000546:g.14066G>T IARC TP53 substitution intron 1 TP53_g.11433G>T NM_000546:g.11433G>T IARC TP53 substitution exon 1 TP53_g.12440C>A NM_000546:g.12440C>A IARC TP53 substitution exon 1 TP53_g.12428T>A NM_000546:g.12428T>A IARC TP53 substitution exon 1 TP53_g.12694A>T NM_000546:g.12694A>T IARC TP53 substitution exon 1 TP53_g.13761A>C NM_000546:g.13761A>C IARC TP53 substitution intron 1 TP53_g.13824C>G NM_000546:g.13824C>G IARC TP53 substitution exon 1 TP53_g.12350_12377del NM_000546:g.12350_12377del IARC TP53 deletion intron 1 TP53_g.11606G>T NM_000546:g.11606G>T IARC TP53 substitution exon 1 TP53_g.13363_13364ins7 NM_000546:g.13363_13364ins7 IARC TP53 insertion exon 1 TP53_g.13863_13864del NM_000546:g.13863_13864del IARC TP53 deletion exon 1 TP53_g.12442_12443del NM_000546:g.12442_12443del IARC TP53 deletion exon 1 TP53_g.12712A>C NM_000546:g.12712A>C IARC TP53 substitution exon 1 TP53_g.12404A>C NM_000546:g.12404A>C IARC TP53 substitution exon 1 TP53_g.12505G>A NM_000546:g.12505G>A IARC TP53 substitution exon 1 TP53_g.12647A>C NM_000546:g.12647A>C IARC TP53 substitution exon 1 TP53_g.12706del NM_000546:g.12706del IARC TP53 deletion exon 1 TP53_g.12376C>G NM_000546:g.12376C>G IARC TP53 substitution exon 1 TP53_g.14021C>T NM_000546:g.14021C>T IARC TP53 substitution exon 1 TP53_g.13370G>T NM_000546:g.13370G>T IARC TP53 substitution exon 1 TP53_g.11024G>C NM_000546:g.11024G>C IARC TP53 substitution exon 1 TP53_g.11397G>T NM_000546:g.11397G>T IARC TP53 substitution exon 1 TP53_g.13370_13371delinsAA NM_000546:g.13370_13371delinsAA IARC TP53 complex exon 1 TP53_g.13835_13836delinsAA NM_000546:g.13835_13836delinsAA IARC TP53 complex exon 1 TP53_g.13378_13379delinsTT NM_000546:g.13378_13379delinsTT IARC TP53 complex exon 1 TP53_g.12442C>T NM_000546:g.12442C>T IARC TP53 substitution exon 1 TP53_g.11543del NM_000546:g.11543del IARC TP53 deletion exon 1 TP53_g.12665G>T NM_000546:g.12665G>T IARC TP53 substitution exon 1 TP53_g.13362G>T NM_000546:g.13362G>T IARC TP53 substitution exon 1 TP53_g.13332T>C NM_000546:g.13332T>C IARC TP53 substitution exon 1 TP53_g.13351_13352ins1 NM_000546:g.13351_13352ins1 IARC TP53 insertion exon 1 TP53_g.12741G>C NM_000546:g.12741G>C IARC TP53 substitution exon 1 TP53_g.11371C>T NM_000546:g.11371C>T IARC TP53 substitution exon 1 TP53_g.12411C>G NM_000546:g.12411C>G IARC TP53 substitution exon 1 TP53_g.13780G>C NM_000546:g.13780G>C IARC TP53 substitution exon 1 TP53_g.11496del NM_000546:g.11496del IARC TP53 deletion exon 1 TP53_g.11333_11334ins1 NM_000546:g.11333_11334ins1 IARC TP53 insertion exon 1 TP53_g.13900G>T NM_000546:g.13900G>T IARC TP53 substitution intron 1 TP53_g.12742G>A NM_000546:g.12742G>A IARC TP53 substitution intron 1 TP53_g.13851A>T NM_000546:g.13851A>T IARC TP53 substitution exon 1 TP53_g.13363C>G NM_000546:g.13363C>G IARC TP53 substitution exon 1 TP53_g.13413A>T NM_000546:g.13413A>T IARC TP53 substitution exon 1 TP53_g.12426G>A NM_000546:g.12426G>A IARC TP53 substitution exon 1 TP53_g.12640del NM_000546:g.12640del IARC TP53 deletion exon 1 TP53_g.12480G>T NM_000546:g.12480G>T IARC TP53 substitution exon 1 TP53_g.12713G>T NM_000546:g.12713G>T IARC TP53 substitution exon 1 TP53_g.12718G>T NM_000546:g.12718G>T IARC TP53 substitution exon 1 TP53_g.11535del NM_000546:g.11535del IARC TP53 deletion exon 1 TP53_g.12516C>G NM_000546:g.12516C>G IARC TP53 substitution exon 1 TP53_g.12480_12481ins9 NM_000546:g.12480_12481ins9 IARC TP53 insertion exon 1 TP53_g.13830A>C NM_000546:g.13830A>C IARC TP53 substitution exon 1 TP53_g.12628G>T NM_000546:g.12628G>T IARC TP53 substitution intron 1 TP53_g.12478del NM_000546:g.12478del IARC TP53 deletion exon 1 TP53_g.12658G>C NM_000546:g.12658G>C IARC TP53 substitution exon 1 TP53_g.12470C>A NM_000546:g.12470C>A IARC TP53 substitution exon 1 TP53_g.12452C>A NM_000546:g.12452C>A IARC TP53 substitution exon 1 TP53_g.12457_12468del NM_000546:g.12457_12468del IARC TP53 deletion exon 1 TP53_g.12691_12694del NM_000546:g.12691_12694del IARC TP53 deletion exon 1 TP53_g.12652A>T NM_000546:g.12652A>T IARC TP53 substitution exon 1 TP53_g.13821G>C NM_000546:g.13821G>C IARC TP53 substitution exon 1 TP53_g.12667del NM_000546:g.12667del IARC TP53 deletion exon 1 TP53_g.13381_13382ins1 NM_000546:g.13381_13382ins1 IARC TP53 insertion exon 1 TP53_g.12494T>C NM_000546:g.12494T>C IARC TP53 substitution exon 1 TP53_g.13812C>A NM_000546:g.13812C>A IARC TP53 substitution exon 1 TP53_g.12460C>T NM_000546:g.12460C>T IARC TP53 substitution exon 1 TP53_g.13804G>A NM_000546:g.13804G>A IARC TP53 substitution exon 1 TP53_g.12728A>C NM_000546:g.12728A>C IARC TP53 substitution exon 1 TP53_g.12661G>A NM_000546:g.12661G>A IARC TP53 substitution exon 1 TP53_g.12682T>G NM_000546:g.12682T>G IARC TP53 substitution exon 1 TP53_g.13371_13372delinsTT NM_000546:g.13371_13372delinsTT IARC TP53 complex exon 1 TP53_g.13407T>C NM_000546:g.13407T>C IARC TP53 substitution exon 1 TP53_g.13409_13417del NM_000546:g.13409_13417del IARC TP53 deletion exon 1 TP53_g.13867A>C NM_000546:g.13867A>C IARC TP53 substitution exon 1 TP53_g.13814_13815ins1 NM_000546:g.13814_13815ins1 IARC TP53 insertion exon 1 TP53_g.13389T>A NM_000546:g.13389T>A IARC TP53 substitution exon 1 TP53_g.13345C>A NM_000546:g.13345C>A IARC TP53 substitution exon 1 TP53_g.13797C>G NM_000546:g.13797C>G IARC TP53 substitution exon 1 TP53_g.13860G>T NM_000546:g.13860G>T IARC TP53 substitution exon 1 TP53_g.13811_13812ins1 NM_000546:g.13811_13812ins1 IARC TP53 insertion exon 1 TP53_g.13321C>G NM_000546:g.13321C>G IARC TP53 substitution exon 1 TP53_g.13340_13353del NM_000546:g.13340_13353del IARC TP53 deletion exon 1 TP53_g.14057del NM_000546:g.14057del IARC TP53 deletion exon 1 TP53_g.12508_12525del NM_000546:g.12508_12525del IARC TP53 deletion exon 1 TP53_g.13803T>C NM_000546:g.13803T>C IARC TP53 substitution exon 1 TP53_g.13349T>C NM_000546:g.13349T>C IARC TP53 substitution exon 1 TP53_g.13812C>G NM_000546:g.13812C>G IARC TP53 substitution exon 1 TP53_g.13825G>T NM_000546:g.13825G>T IARC TP53 substitution exon 1 TP53_g.12370C>T NM_000546:g.12370C>T IARC TP53 substitution exon 1 TP53_g.12502del NM_000546:g.12502del IARC TP53 deletion exon 1 TP53_g.12372T>G NM_000546:g.12372T>G IARC TP53 substitution exon 1 TP53_g.13347T>A NM_000546:g.13347T>A IARC TP53 substitution exon 1 TP53_g.12388T>C NM_000546:g.12388T>C IARC TP53 substitution exon 1 TP53_g.13788T>A NM_000546:g.13788T>A IARC TP53 substitution exon 1 TP53_g.12694_12695del NM_000546:g.12694_12695del IARC TP53 deletion exon 1 TP53_g.12402C>T NM_000546:g.12402C>T IARC TP53 substitution exon 1 TP53_g.13757_13761del NM_000546:g.13757_13761del IARC TP53 deletion intron 1 TP53_g.12715_12717del NM_000546:g.12715_12717del IARC TP53 deletion exon 1 TP53_g.12524A>G NM_000546:g.12524A>G IARC TP53 substitution exon 1 TP53_g.11326A>T NM_000546:g.11326A>T IARC TP53 substitution intron 1 TP53_g.13385_13386delinsTT NM_000546:g.13385_13386delinsTT IARC TP53 complex exon 1 TP53_g.13396_13397ins1 NM_000546:g.13396_13397ins1 IARC TP53 insertion exon 1 TP53_g.12548G>A NM_000546:g.12548G>A IARC TP53 substitution intron 1 TP53_g.12365A>G NM_000546:g.12365A>G IARC TP53 substitution exon 1 TP53_g.13308A>G NM_000546:g.13308A>G IARC TP53 substitution intron 1 TP53_g.13821G>T NM_000546:g.13821G>T IARC TP53 substitution exon 1 TP53_g.12460C>G NM_000546:g.12460C>G IARC TP53 substitution exon 1 TP53_g.12491A>G NM_000546:g.12491A>G IARC TP53 substitution exon 1 TP53_g.12469G>T NM_000546:g.12469G>T IARC TP53 substitution exon 1 TP53_g.12455G>T NM_000546:g.12455G>T IARC TP53 substitution exon 1 TP53_g.11491C>A NM_000546:g.11491C>A IARC TP53 substitution exon 1 TP53_g.12504_12505ins1 NM_000546:g.12504_12505ins1 IARC TP53 insertion exon 1 TP53_g.12408_12409ins14 NM_000546:g.12408_12409ins14 IARC TP53 insertion exon 1 TP53_g.12379_12381del NM_000546:g.12379_12381del IARC TP53 deletion exon 1 TP53_g.13339C>A NM_000546:g.13339C>A IARC TP53 substitution exon 1 TP53_g.13334_13341del NM_000546:g.13334_13341del IARC TP53 deletion exon 1 TP53_g.13391_13399del NM_000546:g.13391_13399del IARC TP53 deletion exon 1 TP53_g.13805T>G NM_000546:g.13805T>G IARC TP53 substitution exon 1 TP53_g.12418_12420del NM_000546:g.12418_12420del IARC TP53 deletion exon 1 TP53_g.12475T>A NM_000546:g.12475T>A IARC TP53 substitution exon 1 TP53_g.12382A>G NM_000546:g.12382A>G IARC TP53 substitution exon 1 TP53_g.13385_13392del NM_000546:g.13385_13392del IARC TP53 deletion exon 1 TP53_g.13372C>T NM_000546:g.13372C>T IARC TP53 substitution exon 1 TP53_g.11328_11605del NM_000546:g.11328_11605del IARC TP53 deletion exon 1 TP53_g.12637del NM_000546:g.12637del IARC TP53 deletion exon 1 TP53_g.13374T>C NM_000546:g.13374T>C IARC TP53 substitution exon 1 TP53_g.11582_11583ins2 NM_000546:g.11582_11583ins2 IARC TP53 insertion exon 1 TP53_g.12430G>A NM_000546:g.12430G>A IARC TP53 substitution exon 1 TP53_g.12459_12460delinsTT NM_000546:g.12459_12460delinsTT IARC TP53 complex exon 1 TP53_g.12465C>T NM_000546:g.12465C>T IARC TP53 substitution exon 1 TP53_g.11382G>T NM_000546:g.11382G>T IARC TP53 substitution exon 1 TP53_g.12654_12655delinsTT NM_000546:g.12654_12655delinsTT IARC TP53 complex exon 1 TP53_g.13383del NM_000546:g.13383del IARC TP53 deletion exon 1 TP53_g.14018del NM_000546:g.14018del IARC TP53 deletion exon 1 TP53_g.12739G>T NM_000546:g.12739G>T IARC TP53 substitution exon 1 TP53_g.12684T>G NM_000546:g.12684T>G IARC TP53 substitution exon 1 TP53_g.12634G>C NM_000546:g.12634G>C IARC TP53 substitution exon 1 TP53_g.12703del NM_000546:g.12703del IARC TP53 deletion exon 1 TP53_g.12504T>C NM_000546:g.12504T>C IARC TP53 substitution exon 1 TP53_g.12511C>T NM_000546:g.12511C>T IARC TP53 substitution exon 1 TP53_g.12506T>A NM_000546:g.12506T>A IARC TP53 substitution exon 1 TP53_g.13800G>T NM_000546:g.13800G>T IARC TP53 substitution exon 1 TP53_g.13830A>G NM_000546:g.13830A>G IARC TP53 substitution exon 1 TP53_g.12552G>C NM_000546:g.12552G>C IARC TP53 substitution intron 1 TP53_g.12440C>G NM_000546:g.12440C>G IARC TP53 substitution exon 1 TP53_g.12445C>A NM_000546:g.12445C>A IARC TP53 substitution exon 1 TP53_g.11511T>A NM_000546:g.11511T>A IARC TP53 substitution exon 1 TP53_g.13822A>T NM_000546:g.13822A>T IARC TP53 substitution exon 1 TP53_g.12737C>T NM_000546:g.12737C>T IARC TP53 substitution exon 1 TP53_g.12401del NM_000546:g.12401del IARC TP53 deletion exon 1 TP53_g.12366C>G NM_000546:g.12366C>G IARC TP53 substitution exon 1 TP53_g.11445_11454del NM_000546:g.11445_11454del IARC TP53 deletion exon 1 TP53_g.11564del NM_000546:g.11564del IARC TP53 deletion exon 1 TP53_g.12487_12488del NM_000546:g.12487_12488del IARC TP53 deletion exon 1 TP53_g.17910_17939del NM_000546:g.17910_17939del IARC TP53 deletion exon 1 TP53_g.13806G>C NM_000546:g.13806G>C IARC TP53 substitution exon 1 TP53_g.12637_12639del NM_000546:g.12637_12639del IARC TP53 deletion exon 1 TP53_g.13409G>T NM_000546:g.13409G>T IARC TP53 substitution exon 1 TP53_g.12381C>G NM_000546:g.12381C>G IARC TP53 substitution exon 1 TP53_g.13860del NM_000546:g.13860del IARC TP53 deletion exon 1 TP53_g.13839G>A NM_000546:g.13839G>A IARC TP53 substitution exon 1 TP53_g.13833G>C NM_000546:g.13833G>C IARC TP53 substitution exon 1 TP53_g.13841G>A NM_000546:g.13841G>A IARC TP53 substitution exon 1 TP53_g.13410A>G NM_000546:g.13410A>G IARC TP53 substitution exon 1 TP53_g.13380_13381delinsAA NM_000546:g.13380_13381delinsAA IARC TP53 complex exon 1 TP53_g.12701C>T NM_000546:g.12701C>T IARC TP53 substitution exon 1 TP53_g.12496A>T NM_000546:g.12496A>T IARC TP53 substitution exon 1 TP53_g.12439C>G NM_000546:g.12439C>G IARC TP53 substitution exon 1 TP53_g.12679G>T NM_000546:g.12679G>T IARC TP53 substitution exon 1 TP53_g.13819G>T NM_000546:g.13819G>T IARC TP53 substitution exon 1 TP53_g.12449G>A NM_000546:g.12449G>A IARC TP53 substitution exon 1 TP53_g.13368G>T NM_000546:g.13368G>T IARC TP53 substitution exon 1 TP53_g.13383G>A NM_000546:g.13383G>A IARC TP53 substitution exon 1 TP53_g.13837A>G NM_000546:g.13837A>G IARC TP53 substitution exon 1 TP53_g.12661G>T NM_000546:g.12661G>T IARC TP53 substitution exon 1 TP53_g.13794G>C NM_000546:g.13794G>C IARC TP53 substitution exon 1 TP53_g.13809T>G NM_000546:g.13809T>G IARC TP53 substitution exon 1 TP53_g.13351T>A NM_000546:g.13351T>A IARC TP53 substitution exon 1 TP53_g.13886G>T NM_000546:g.13886G>T IARC TP53 substitution exon 1 TP53_g.13805_13806ins30 NM_000546:g.13805_13806ins30 IARC TP53 insertion exon 1 TP53_g.12468G>T NM_000546:g.12468G>T IARC TP53 substitution exon 1 TP53_g.12363G>T NM_000546:g.12363G>T IARC TP53 substitution intron 1 TP53_g.13762G>T NM_000546:g.13762G>T IARC TP53 substitution intron 1 TP53_g.12400G>C NM_000546:g.12400G>C IARC TP53 substitution exon 1 TP53_g.12678G>T NM_000546:g.12678G>T IARC TP53 substitution exon 1 TP53_g.12415G>T NM_000546:g.12415G>T IARC TP53 substitution exon 1 TP53_g.11569_11570delinsGT NM_000546:g.11569_11570delinsGT IARC TP53 complex exon 1 TP53_g.11568_11569delinsGG NM_000546:g.11568_11569delinsGG IARC TP53 complex exon 1 TP53_g.12364_12384del NM_000546:g.12364_12384del IARC TP53 deletion exon 1 TP53_g.12368C>T NM_000546:g.12368C>T IARC TP53 substitution exon 1 TP53_g.12506T>C NM_000546:g.12506T>C IARC TP53 substitution exon 1 TP53_g.12521A>C NM_000546:g.12521A>C IARC TP53 substitution exon 1 TP53_g.12523C>G NM_000546:g.12523C>G IARC TP53 substitution exon 1 TP53_g.13351_13352del NM_000546:g.13351_13352del IARC TP53 deletion exon 1 TP53_g.13362G>A NM_000546:g.13362G>A IARC TP53 substitution exon 1 TP53_g.13401T>C NM_000546:g.13401T>C IARC TP53 substitution exon 1 TP53_g.13776G>A NM_000546:g.13776G>A IARC TP53 substitution exon 1 TP53_g.13813C>G NM_000546:g.13813C>G IARC TP53 substitution exon 1 TP53_g.13346_13347del NM_000546:g.13346_13347del IARC TP53 deletion exon 1 TP53_g.12520C>G NM_000546:g.12520C>G IARC TP53 substitution exon 1 TP53_g.12393C>T NM_000546:g.12393C>T IARC TP53 substitution exon 1 TP53_g.12441C>T NM_000546:g.12441C>T IARC TP53 substitution exon 1 TP53_g.12440C>T NM_000546:g.12440C>T IARC TP53 substitution exon 1 TP53_g.13375G>T NM_000546:g.13375G>T IARC TP53 substitution exon 1 TP53_g.12627A>C NM_000546:g.12627A>C IARC TP53 substitution intron 1 TP53_g.12724_12735del NM_000546:g.12724_12735del IARC TP53 deletion exon 1 TP53_g.13402_13405del NM_000546:g.13402_13405del IARC TP53 deletion exon 1 TP53_g.12517C>T NM_000546:g.12517C>T IARC TP53 substitution exon 1 TP53_g.12393C>G NM_000546:g.12393C>G IARC TP53 substitution exon 1 TP53_g.13880_13881ins2 NM_000546:g.13880_13881ins2 IARC TP53 insertion exon 1 TP53_g.13388A>C NM_000546:g.13388A>C IARC TP53 substitution exon 1 TP53_g.13398T>C NM_000546:g.13398T>C IARC TP53 substitution exon 1 TP53_g.13323G>C NM_000546:g.13323G>C IARC TP53 substitution exon 1 TP53_g.12443C>A NM_000546:g.12443C>A IARC TP53 substitution exon 1 TP53_g.13412G>T NM_000546:g.13412G>T IARC TP53 substitution exon 1 TP53_g.13404C>T NM_000546:g.13404C>T IARC TP53 substitution exon 1 TP53_g.12512G>C NM_000546:g.12512G>C IARC TP53 substitution exon 1 TP53_g.12497C>T NM_000546:g.12497C>T IARC TP53 substitution exon 1 TP53_g.13355A>G NM_000546:g.13355A>G IARC TP53 substitution exon 1 TP53_g.12556C>T NM_000546:g.12556C>T IARC TP53 substitution intron 1 TP53_g.11327G>C NM_000546:g.11327G>C IARC TP53 substitution intron 1 TP53_g.13420G>T NM_000546:g.13420G>T IARC TP53 substitution intron 1 TP53_g.12706C>A NM_000546:g.12706C>A IARC TP53 substitution exon 1 TP53_g.13395C>T NM_000546:g.13395C>T IARC TP53 substitution exon 1 TP53_g.13823C>A NM_000546:g.13823C>A IARC TP53 substitution exon 1 TP53_g.13788T>C NM_000546:g.13788T>C IARC TP53 substitution exon 1 TP53_g.16915del NM_000546:g.16915del IARC TP53 deletion exon 1 TP53_g.12478A>G NM_000546:g.12478A>G IARC TP53 substitution exon 1 TP53_g.13350G>C NM_000546:g.13350G>C IARC TP53 substitution exon 1 TP53_g.13320A>G NM_000546:g.13320A>G IARC TP53 substitution exon 1 TP53_g.13341A>G NM_000546:g.13341A>G IARC TP53 substitution exon 1 TP53_g.13309G>T NM_000546:g.13309G>T IARC TP53 substitution intron 1 TP53_g.12658G>A NM_000546:g.12658G>A IARC TP53 substitution exon 1 TP53_g.12656G>C NM_000546:g.12656G>C IARC TP53 substitution exon 1 TP53_g.11213G>A NM_000546:g.11213G>A IARC TP53 substitution exon 1 TP53_g.12460del NM_000546:g.12460del IARC TP53 deletion exon 1 TP53_g.13991G>A NM_000546:g.13991G>A IARC TP53 substitution intron 1 TP53_g.11559del NM_000546:g.11559del IARC TP53 deletion exon 1 TP53_g.11504G>A NM_000546:g.11504G>A IARC TP53 substitution exon 1 TP53_g.12487C>T NM_000546:g.12487C>T IARC TP53 substitution exon 1 TP53_g.12448_12461del NM_000546:g.12448_12461del IARC TP53 deletion exon 1 TP53_g.12651_12652ins1 NM_000546:g.12651_12652ins1 IARC TP53 insertion exon 1 TP53_g.12665G>A NM_000546:g.12665G>A IARC TP53 substitution exon 1 TP53_g.13801T>G NM_000546:g.13801T>G IARC TP53 substitution exon 1 TP53_g.12519_12520ins1 NM_000546:g.12519_12520ins1 IARC TP53 insertion exon 1 TP53_g.12415G>A NM_000546:g.12415G>A IARC TP53 substitution exon 1 TP53_g.13795T>A NM_000546:g.13795T>A IARC TP53 substitution exon 1 TP53_g.13774_13775delinsCT NM_000546:g.13774_13775delinsCT IARC TP53 complex exon 1 TP53_g.16936del NM_000546:g.16936del IARC TP53 deletion exon 1 TP53_g.13380_13381delinsTT NM_000546:g.13380_13381delinsTT IARC TP53 complex exon 1 TP53_g.12626T>G NM_000546:g.12626T>G IARC TP53 substitution intron 1 TP53_g.13315_13316ins37 NM_000546:g.13315_13316ins37 IARC TP53 insertion exon 1 TP53_g.13407T>A NM_000546:g.13407T>A IARC TP53 substitution exon 1 TP53_g.13892_13893ins4 NM_000546:g.13892_13893ins4 IARC TP53 insertion exon 1 TP53_g.12741G>A NM_000546:g.12741G>A IARC TP53 substitution exon 1 TP53_g.13777G>A NM_000546:g.13777G>A IARC TP53 substitution exon 1 TP53_g.13816G>A NM_000546:g.13816G>A IARC TP53 substitution exon 1 TP53_g.12721_12722del NM_000546:g.12721_12722del IARC TP53 deletion exon 1 TP53_g.12406del NM_000546:g.12406del IARC TP53 deletion exon 1 TP53_g.12394C>G NM_000546:g.12394C>G IARC TP53 substitution exon 1 TP53_g.12544G>T NM_000546:g.12544G>T IARC TP53 substitution exon 1 TP53_g.12670del NM_000546:g.12670del IARC TP53 deletion exon 1 TP53_g.12478A>C NM_000546:g.12478A>C IARC TP53 substitution exon 1 TP53_g.12692A>T NM_000546:g.12692A>T IARC TP53 substitution exon 1 TP53_g.13400_13402del NM_000546:g.13400_13402del IARC TP53 deletion exon 1 TP53_g.12547G>T NM_000546:g.12547G>T IARC TP53 substitution exon 1 TP53_g.13385C>G NM_000546:g.13385C>G IARC TP53 substitution exon 1 TP53_g.13899G>A NM_000546:g.13899G>A IARC TP53 substitution exon 1 TP53_g.13818A>G NM_000546:g.13818A>G IARC TP53 substitution exon 1 TP53_g.13780G>A NM_000546:g.13780G>A IARC TP53 substitution exon 1 TP53_g.13773del NM_000546:g.13773del IARC TP53 deletion exon 1 TP53_g.13794G>T NM_000546:g.13794G>T IARC TP53 substitution exon 1 TP53_g.13358_13360del NM_000546:g.13358_13360del IARC TP53 deletion exon 1 TP53_g.13776G>T NM_000546:g.13776G>T IARC TP53 substitution exon 1 TP53_g.12530G>C NM_000546:g.12530G>C IARC TP53 substitution exon 1 TP53_g.13800G>C NM_000546:g.13800G>C IARC TP53 substitution exon 1 TP53_g.13805_13806ins4 NM_000546:g.13805_13806ins4 IARC TP53 insertion exon 1 TP53_g.12409T>G NM_000546:g.12409T>G IARC TP53 substitution exon 1 TP53_g.13368G>A NM_000546:g.13368G>A IARC TP53 substitution exon 1 TP53_g.13322_13323del NM_000546:g.13322_13323del IARC TP53 deletion exon 1 TP53_g.13388del NM_000546:g.13388del IARC TP53 deletion exon 1 TP53_g.12398T>C NM_000546:g.12398T>C IARC TP53 substitution exon 1 TP53_g.13855A>G NM_000546:g.13855A>G IARC TP53 substitution exon 1 TP53_g.13399C>A NM_000546:g.13399C>A IARC TP53 substitution exon 1 TP53_g.13805T>C NM_000546:g.13805T>C IARC TP53 substitution exon 1 TP53_g.12638C>T NM_000546:g.12638C>T IARC TP53 substitution exon 1 TP53_g.12439C>A NM_000546:g.12439C>A IARC TP53 substitution exon 1 TP53_g.13812_13813delinsTT NM_000546:g.13812_13813delinsTT IARC TP53 complex exon 1 TP53_g.13331A>T NM_000546:g.13331A>T IARC TP53 substitution exon 1 TP53_g.12438_12439ins1 NM_000546:g.12438_12439ins1 IARC TP53 insertion exon 1 TP53_g.12525T>C NM_000546:g.12525T>C IARC TP53 substitution exon 1 TP53_g.12458T>A NM_000546:g.12458T>A IARC TP53 substitution exon 1 TP53_g.12664_12677del NM_000546:g.12664_12677del IARC TP53 deletion exon 1 TP53_g.12508A>T NM_000546:g.12508A>T IARC TP53 substitution exon 1 TP53_g.13345C>G NM_000546:g.13345C>G IARC TP53 substitution exon 1 TP53_g.13411A>T NM_000546:g.13411A>T IARC TP53 substitution exon 1 TP53_g.12694_12700del NM_000546:g.12694_12700del IARC TP53 deletion exon 1 TP53_g.12427G>A NM_000546:g.12427G>A IARC TP53 substitution exon 1 TP53_g.12391T>C NM_000546:g.12391T>C IARC TP53 substitution exon 1 TP53_g.13774T>C NM_000546:g.13774T>C IARC TP53 substitution exon 1 TP53_g.12498_12499delinsTT NM_000546:g.12498_12499delinsTT IARC TP53 complex exon 1 TP53_g.12447C>T NM_000546:g.12447C>T IARC TP53 substitution exon 1 TP53_g.12363G>C NM_000546:g.12363G>C IARC TP53 substitution intron 1 TP53_g.13417C>T NM_000546:g.13417C>T IARC TP53 substitution exon 1 TP53_g.12394C>T NM_000546:g.12394C>T IARC TP53 substitution exon 1 TP53_g.12494T>A NM_000546:g.12494T>A IARC TP53 substitution exon 1 TP53_g.12496A>G NM_000546:g.12496A>G IARC TP53 substitution exon 1 TP53_g.13792A>G NM_000546:g.13792A>G IARC TP53 substitution exon 1 TP53_g.12406A>G NM_000546:g.12406A>G IARC TP53 substitution exon 1 TP53_g.12412C>T NM_000546:g.12412C>T IARC TP53 substitution exon 1 TP53_g.13827C>G NM_000546:g.13827C>G IARC TP53 substitution exon 1 TP53_g.12533G>A NM_000546:g.12533G>A IARC TP53 substitution exon 1 TP53_g.13825G>A NM_000546:g.13825G>A IARC TP53 substitution exon 1 TP53_g.13829del NM_000546:g.13829del IARC TP53 deletion exon 1 TP53_g.13395C>G NM_000546:g.13395C>G IARC TP53 substitution exon 1 TP53_g.12463G>C NM_000546:g.12463G>C IARC TP53 substitution exon 1 TP53_g.13381G>T NM_000546:g.13381G>T IARC TP53 substitution exon 1 TP53_g.12472A>T NM_000546:g.12472A>T IARC TP53 substitution exon 1 TP53_g.13383G>C NM_000546:g.13383G>C IARC TP53 substitution exon 1 TP53_g.13379C>G NM_000546:g.13379C>G IARC TP53 substitution exon 1 TP53_g.13401T>G NM_000546:g.13401T>G IARC TP53 substitution exon 1 TP53_g.13815_13838del NM_000546:g.13815_13838del IARC TP53 deletion exon 1 TP53_g.12482A>T NM_000546:g.12482A>T IARC TP53 substitution exon 1 TP53_g.13896C>T NM_000546:g.13896C>T IARC TP53 substitution exon 1 TP53_g.13899_13914del NM_000546:g.13899_13914del IARC TP53 deletion exon 1 TP53_g.12683A>C NM_000546:g.12683A>C IARC TP53 substitution exon 1 TP53_g.12676del NM_000546:g.12676del IARC TP53 deletion exon 1 TP53_g.13373A>T NM_000546:g.13373A>T IARC TP53 substitution exon 1 TP53_g.12448del NM_000546:g.12448del IARC TP53 deletion exon 1 TP53_g.12363G>A NM_000546:g.12363G>A IARC TP53 substitution intron 1 TP53_g.13791del NM_000546:g.13791del IARC TP53 deletion exon 1 TP53_g.12473T>G NM_000546:g.12473T>G IARC TP53 substitution exon 1 TP53_g.12520del NM_000546:g.12520del IARC TP53 deletion exon 1 TP53_g.13403del NM_000546:g.13403del IARC TP53 deletion exon 1 TP53_g.12385A>C NM_000546:g.12385A>C IARC TP53 substitution exon 1 TP53_g.12690T>G NM_000546:g.12690T>G IARC TP53 substitution exon 1 TP53_g.11036G>C NM_000546:g.11036G>C IARC TP53 substitution exon 1 TP53_g.13871C>T NM_000546:g.13871C>T IARC TP53 substitution exon 1 TP53_g.13821G>A NM_000546:g.13821G>A IARC TP53 substitution exon 1 TP53_g.13370G>C NM_000546:g.13370G>C IARC TP53 substitution exon 1 TP53_g.13356G>T NM_000546:g.13356G>T IARC TP53 substitution exon 1 TP53_g.13823_13824ins1 NM_000546:g.13823_13824ins1 IARC TP53 insertion exon 1 TP53_g.13347del NM_000546:g.13347del IARC TP53 deletion exon 1 TP53_g.13813C>A NM_000546:g.13813C>A IARC TP53 substitution exon 1 TP53_g.12530G>T NM_000546:g.12530G>T IARC TP53 substitution exon 1 TP53_g.13409G>C NM_000546:g.13409G>C IARC TP53 substitution exon 1 TP53_g.14020C>T NM_000546:g.14020C>T IARC TP53 substitution exon 1 TP53_g.13355del NM_000546:g.13355del IARC TP53 deletion exon 1 TP53_g.12380A>G NM_000546:g.12380A>G IARC TP53 substitution exon 1 TP53_g.13386C>T NM_000546:g.13386C>T IARC TP53 substitution exon 1 TP53_g.12398T>A NM_000546:g.12398T>A IARC TP53 substitution exon 1 TP53_g.12454_12458del NM_000546:g.12454_12458del IARC TP53 deletion exon 1 TP53_g.13801T>C NM_000546:g.13801T>C IARC TP53 substitution exon 1 TP53_g.13385del NM_000546:g.13385del IARC TP53 deletion exon 1 TP53_g.12513_12514ins1 NM_000546:g.12513_12514ins1 IARC TP53 insertion exon 1 TP53_g.13374T>G NM_000546:g.13374T>G IARC TP53 substitution exon 1 TP53_g.12457_12463del NM_000546:g.12457_12463del IARC TP53 deletion exon 1 TP53_g.13346_13363del NM_000546:g.13346_13363del IARC TP53 deletion exon 1 TP53_g.13358T>G NM_000546:g.13358T>G IARC TP53 substitution exon 1 TP53_g.13382A>T NM_000546:g.13382A>T IARC TP53 substitution exon 1 TP53_g.12409del NM_000546:g.12409del IARC TP53 deletion exon 1 TP53_g.12377T>G NM_000546:g.12377T>G IARC TP53 substitution exon 1 TP53_g.12724del NM_000546:g.12724del IARC TP53 deletion exon 1 TP53_g.13788T>G NM_000546:g.13788T>G IARC TP53 substitution exon 1 TP53_g.11499_11556del NM_000546:g.11499_11556del IARC TP53 deletion exon 1 TP53_g.13422C>G NM_000546:g.13422C>G IARC TP53 substitution intron 1 TP53_g.12393C>A NM_000546:g.12393C>A IARC TP53 substitution exon 1 TP53_g.12713G>A NM_000546:g.12713G>A IARC TP53 substitution exon 1 TP53_g.16900C>T NM_000546:g.16900C>T IARC TP53 substitution exon 1 TP53_g.13361T>A NM_000546:g.13361T>A IARC TP53 substitution exon 1 TP53_g.11336G>C NM_000546:g.11336G>C IARC TP53 substitution exon 1 TP53_g.13400A>T NM_000546:g.13400A>T IARC TP53 substitution exon 1 TP53_g.12502G>T NM_000546:g.12502G>T IARC TP53 substitution exon 1 TP53_g.12466A>G NM_000546:g.12466A>G IARC TP53 substitution exon 1 TP53_g.13346A>C NM_000546:g.13346A>C IARC TP53 substitution exon 1 TP53_g.12428T>C NM_000546:g.12428T>C IARC TP53 substitution exon 1 TP53_g.13324del NM_000546:g.13324del IARC TP53 deletion exon 1 TP53_g.11596_11597del NM_000546:g.11596_11597del IARC TP53 deletion exon 1 TP53_g.13391_13396del NM_000546:g.13391_13396del IARC TP53 deletion exon 1 TP53_g.12457_12465del NM_000546:g.12457_12465del IARC TP53 deletion exon 1 TP53_g.12464C>A NM_000546:g.12464C>A IARC TP53 substitution exon 1 TP53_g.13399C>G NM_000546:g.13399C>G IARC TP53 substitution exon 1 TP53_g.12370_12396del NM_000546:g.12370_12396del IARC TP53 deletion exon 1 TP53_g.13824_13829del NM_000546:g.13824_13829del IARC TP53 deletion exon 1 TP53_g.12677T>C NM_000546:g.12677T>C IARC TP53 substitution exon 1 TP53_g.11415G>T NM_000546:g.11415G>T IARC TP53 substitution exon 1 TP53_g.12724C>T NM_000546:g.12724C>T IARC TP53 substitution exon 1 TP53_g.11442del NM_000546:g.11442del IARC TP53 deletion exon 1 TP53_g.13358del NM_000546:g.13358del IARC TP53 deletion exon 1 TP53_g.12472A>G NM_000546:g.12472A>G IARC TP53 substitution exon 1 TP53_g.14014_14015ins1 NM_000546:g.14014_14015ins1 IARC TP53 insertion exon 1 TP53_g.13398T>G NM_000546:g.13398T>G IARC TP53 substitution exon 1 TP53_g.13848C>T NM_000546:g.13848C>T IARC TP53 substitution exon 1 TP53_g.12417G>T NM_000546:g.12417G>T IARC TP53 substitution exon 1 TP53_g.12425G>A NM_000546:g.12425G>A IARC TP53 substitution exon 1 TP53_g.13360C>A NM_000546:g.13360C>A IARC TP53 substitution exon 1 TP53_g.12699_12700ins1 NM_000546:g.12699_12700ins1 IARC TP53 insertion exon 1 TP53_g.12650T>C NM_000546:g.12650T>C IARC TP53 substitution exon 1 TP53_g.13343T>A NM_000546:g.13343T>A IARC TP53 substitution exon 1 TP53_g.13779C>T NM_000546:g.13779C>T IARC TP53 substitution exon 1 TP53_g.12477C>G NM_000546:g.12477C>G IARC TP53 substitution exon 1 TP53_g.12532T>A NM_000546:g.12532T>A IARC TP53 substitution exon 1 TP53_g.13803T>G NM_000546:g.13803T>G IARC TP53 substitution exon 1 TP53_g.12460_12463del NM_000546:g.12460_12463del IARC TP53 deletion exon 1 TP53_g.11565del NM_000546:g.11565del IARC TP53 deletion exon 1 TP53_g.13316_13319del NM_000546:g.13316_13319del IARC TP53 deletion exon 1 TP53_g.12648T>A NM_000546:g.12648T>A IARC TP53 substitution exon 1 TP53_g.11367del NM_000546:g.11367del IARC TP53 deletion exon 1 TP53_g.13359C>A NM_000546:g.13359C>A IARC TP53 substitution exon 1 TP53_g.12730G>T NM_000546:g.12730G>T IARC TP53 substitution exon 1 TP53_g.14017_14018ins1 NM_000546:g.14017_14018ins1 IARC TP53 insertion exon 1 TP53_g.30020_30115del NM_000546:g.30020_30115del IARC TP53 deletion exon 1 TP53_g.12677T>A NM_000546:g.12677T>A IARC TP53 substitution exon 1 TP53_g.13844_13845ins2 NM_000546:g.13844_13845ins2 IARC TP53 insertion exon 1 TP53_g.12430_12439del NM_000546:g.12430_12439del IARC TP53 deletion exon 1 TP53_g.13800_13831del NM_000546:g.13800_13831del IARC TP53 deletion exon 1 TP53_g.13337_13341del NM_000546:g.13337_13341del IARC TP53 deletion exon 1 TP53_g.13806_13811del NM_000546:g.13806_13811del IARC TP53 deletion exon 1 TP53_g.13854_13855del NM_000546:g.13854_13855del IARC TP53 deletion exon 1 TP53_g.12739_12742del NM_000546:g.12739_12742del IARC TP53 deletion exon 1 TP53_g.12460_12465del NM_000546:g.12460_12465del IARC TP53 deletion exon 1 TP53_g.12410G>T NM_000546:g.12410G>T IARC TP53 substitution exon 1 TP53_g.12532del NM_000546:g.12532del IARC TP53 deletion exon 1 TP53_g.13764_13777del NM_000546:g.13764_13777del IARC TP53 deletion exon 1 TP53_g.16957G>T NM_000546:g.16957G>T IARC TP53 substitution exon 1 TP53_g.13420G>A NM_000546:g.13420G>A IARC TP53 substitution intron 1 TP53_g.13839_13843del NM_000546:g.13839_13843del IARC TP53 deletion exon 1 TP53_g.13836G>T NM_000546:g.13836G>T IARC TP53 substitution exon 1 TP53_g.13859G>A NM_000546:g.13859G>A IARC TP53 substitution exon 1 TP53_g.12427del NM_000546:g.12427del IARC TP53 deletion exon 1 TP53_g.12481C>T NM_000546:g.12481C>T IARC TP53 substitution exon 1 TP53_g.13850del NM_000546:g.13850del IARC TP53 deletion exon 1 TP53_g.12389T>C NM_000546:g.12389T>C IARC TP53 substitution exon 1 TP53_g.12428T>G NM_000546:g.12428T>G IARC TP53 substitution exon 1 TP53_g.12517del NM_000546:g.12517del IARC TP53 deletion exon 1 TP53_g.13876T>C NM_000546:g.13876T>C IARC TP53 substitution exon 1 TP53_g.11545G>T NM_000546:g.11545G>T IARC TP53 substitution exon 1 TP53_g.12707G>T NM_000546:g.12707G>T IARC TP53 substitution exon 1 TP53_g.13417_13418ins3 NM_000546:g.13417_13418ins3 IARC TP53 insertion exon 1 TP53_g.11336G>T NM_000546:g.11336G>T IARC TP53 substitution exon 1 TP53_g.13865T>C NM_000546:g.13865T>C IARC TP53 substitution exon 1 TP53_g.12628G>A NM_000546:g.12628G>A IARC TP53 substitution intron 1 TP53_g.12694del NM_000546:g.12694del IARC TP53 deletion exon 1 TP53_g.13408_13409delinsAA NM_000546:g.13408_13409delinsAA IARC TP53 complex exon 1 TP53_g.11529C>T NM_000546:g.11529C>T IARC TP53 substitution exon 1 TP53_g.12518C>T NM_000546:g.12518C>T IARC TP53 substitution exon 1 TP53_g.12520C>A NM_000546:g.12520C>A IARC TP53 substitution exon 1 TP53_g.11370_11371del NM_000546:g.11370_11371del IARC TP53 deletion exon 1 TP53_g.16914_16915delinsTT NM_000546:g.16914_16915delinsTT IARC TP53 complex exon 1 TP53_g.13823_13824delinsTT NM_000546:g.13823_13824delinsTT IARC TP53 complex exon 1 TP53_g.12515del NM_000546:g.12515del IARC TP53 deletion exon 1 TP53_g.13387C>T NM_000546:g.13387C>T IARC TP53 substitution exon 1 TP53_g.13834A>T NM_000546:g.13834A>T IARC TP53 substitution exon 1 TP53_g.12649_12652del NM_000546:g.12649_12652del IARC TP53 deletion exon 1 TP53_g.13789T>C NM_000546:g.13789T>C IARC TP53 substitution exon 1 TP53_g.12510G>C NM_000546:g.12510G>C IARC TP53 substitution exon 1 TP53_g.11556_11561del NM_000546:g.11556_11561del IARC TP53 deletion exon 1 TP53_g.12430_12453del NM_000546:g.12430_12453del IARC TP53 deletion exon 1 TP53_g.13879C>G NM_000546:g.13879C>G IARC TP53 substitution exon 1 TP53_g.12515G>C NM_000546:g.12515G>C IARC TP53 substitution exon 1 TP53_g.16906G>T NM_000546:g.16906G>T IARC TP53 substitution exon 1 TP53_g.13842A>T NM_000546:g.13842A>T IARC TP53 substitution exon 1 TP53_g.12501G>C NM_000546:g.12501G>C IARC TP53 substitution exon 1 TP53_g.12659T>A NM_000546:g.12659T>A IARC TP53 substitution exon 1 TP53_g.13354C>A NM_000546:g.13354C>A IARC TP53 substitution exon 1 TP53_g.13797C>A NM_000546:g.13797C>A IARC TP53 substitution exon 1 TP53_g.13343T>G NM_000546:g.13343T>G IARC TP53 substitution exon 1 TP53_g.13336_13337ins1 NM_000546:g.13336_13337ins1 IARC TP53 insertion exon 1 TP53_g.12433del NM_000546:g.12433del IARC TP53 deletion exon 1 TP53_g.12646C>G NM_000546:g.12646C>G IARC TP53 substitution exon 1 TP53_g.12517_12534del NM_000546:g.12517_12534del IARC TP53 deletion exon 1 TP53_g.12490C>G NM_000546:g.12490C>G IARC TP53 substitution exon 1 TP53_g.12672G>C NM_000546:g.12672G>C IARC TP53 substitution exon 1 TP53_g.12435C>T NM_000546:g.12435C>T IARC TP53 substitution exon 1 TP53_g.13382del NM_000546:g.13382del IARC TP53 deletion exon 1 TP53_g.12508del NM_000546:g.12508del IARC TP53 deletion exon 1 TP53_g.13800_13807del NM_000546:g.13800_13807del IARC TP53 deletion exon 1 TP53_g.12675_12676ins1 NM_000546:g.12675_12676ins1 IARC TP53 insertion exon 1 TP53_g.13336C>T NM_000546:g.13336C>T IARC TP53 substitution exon 1 TP53_g.13343T>C NM_000546:g.13343T>C IARC TP53 substitution exon 1 TP53_g.13346A>G NM_000546:g.13346A>G IARC TP53 substitution exon 1 TP53_g.13846T>A NM_000546:g.13846T>A IARC TP53 substitution exon 1 TP53_g.16885_16991del NM_000546:g.16885_16991del IARC TP53 deletion exon 1 TP53_g.12505_12507del NM_000546:g.12505_12507del IARC TP53 deletion exon 1 TP53_g.12716T>G NM_000546:g.12716T>G IARC TP53 substitution exon 1 TP53_g.13863C>T NM_000546:g.13863C>T IARC TP53 substitution exon 1 TP53_g.13928G>A NM_000546:g.13928G>A IARC TP53 substitution intron 1 TP53_g.13783A>G NM_000546:g.13783A>G IARC TP53 substitution exon 1 TP53_g.13885G>A NM_000546:g.13885G>A IARC TP53 substitution exon 1 TP53_g.13828G>A NM_000546:g.13828G>A IARC TP53 substitution exon 1 TP53_g.13412G>A NM_000546:g.13412G>A IARC TP53 substitution exon 1 TP53_g.13364A>T NM_000546:g.13364A>T IARC TP53 substitution exon 1 TP53_g.13349T>G NM_000546:g.13349T>G IARC TP53 substitution exon 1 TP53_g.13405A>G NM_000546:g.13405A>G IARC TP53 substitution exon 1 TP53_g.13760T>C NM_000546:g.13760T>C IARC TP53 substitution intron 1 TP53_g.13885G>T NM_000546:g.13885G>T IARC TP53 substitution exon 1 TP53_g.13882C>T NM_000546:g.13882C>T IARC TP53 substitution exon 1 TP53_g.12662A>G NM_000546:g.12662A>G IARC TP53 substitution exon 1 TP53_g.12541del NM_000546:g.12541del IARC TP53 deletion exon 1 TP53_g.13763T>C NM_000546:g.13763T>C IARC TP53 substitution exon 1 TP53_g.13778A>G NM_000546:g.13778A>G IARC TP53 substitution exon 1 TP53_g.12505_12506delinsTG NM_000546:g.12505_12506delinsTG IARC TP53 complex exon 1 TP53_g.12514del NM_000546:g.12514del IARC TP53 deletion exon 1 TP53_g.12504T>A NM_000546:g.12504T>A IARC TP53 substitution exon 1 TP53_g.12392G>T NM_000546:g.12392G>T IARC TP53 substitution exon 1 TP53_g.13849G>A NM_000546:g.13849G>A IARC TP53 substitution exon 1 TP53_g.13764del NM_000546:g.13764del IARC TP53 deletion exon 1 TP53_g.13857G>T NM_000546:g.13857G>T IARC TP53 substitution exon 1 TP53_g.12278T>C NM_000546:g.12278T>C IARC TP53 substitution intron 1 TP53_g.13898_13899ins1 NM_000546:g.13898_13899ins1 IARC TP53 insertion exon 1 TP53_g.12393_12394ins1 NM_000546:g.12393_12394ins1 IARC TP53 insertion exon 1 TP53_g.12391T>A NM_000546:g.12391T>A IARC TP53 substitution exon 1 TP53_g.12442_12443delinsTT NM_000546:g.12442_12443delinsTT IARC TP53 complex exon 1 TP53_g.12522_12523delinsTT NM_000546:g.12522_12523delinsTT IARC TP53 complex exon 1 TP53_g.12393_12394delinsTT NM_000546:g.12393_12394delinsTT IARC TP53 complex exon 1 TP53_g.13377A>C NM_000546:g.13377A>C IARC TP53 substitution exon 1 TP53_g.12464_12465delinsTT NM_000546:g.12464_12465delinsTT IARC TP53 complex exon 1 TP53_g.11568T>G NM_000546:g.11568T>G IARC TP53 substitution exon 1 TP53_g.13368G>C NM_000546:g.13368G>C IARC TP53 substitution exon 1 TP53_g.13770_13787del NM_000546:g.13770_13787del IARC TP53 deletion exon 1 TP53_g.13380G>C NM_000546:g.13380G>C IARC TP53 substitution exon 1 TP53_g.12709_12710del NM_000546:g.12709_12710del IARC TP53 deletion exon 1 TP53_g.13353A>C NM_000546:g.13353A>C IARC TP53 substitution exon 1 TP53_g.13367_13374del NM_000546:g.13367_13374del IARC TP53 deletion exon 1 TP53_g.12508_12524del NM_000546:g.12508_12524del IARC TP53 deletion exon 1 TP53_g.12385del NM_000546:g.12385del IARC TP53 deletion exon 1 TP53_g.13791G>T NM_000546:g.13791G>T IARC TP53 substitution exon 1 TP53_g.13770del NM_000546:g.13770del IARC TP53 deletion exon 1 TP53_g.13402_13403ins1 NM_000546:g.13402_13403ins1 IARC TP53 insertion exon 1 TP53_g.12718_12720del NM_000546:g.12718_12720del IARC TP53 deletion exon 1 TP53_g.16905_16906ins5 NM_000546:g.16905_16906ins5 IARC TP53 insertion exon 1 TP53_g.12649_12653del NM_000546:g.12649_12653del IARC TP53 deletion exon 1 TP53_g.12396A>G NM_000546:g.12396A>G IARC TP53 substitution exon 1 TP53_g.12478A>T NM_000546:g.12478A>T IARC TP53 substitution exon 1 TP53_g.12425G>C NM_000546:g.12425G>C IARC TP53 substitution exon 1 TP53_g.11504G>T NM_000546:g.11504G>T IARC TP53 substitution exon 1 TP53_g.12485C>G NM_000546:g.12485C>G IARC TP53 substitution exon 1 TP53_g.12680A>T NM_000546:g.12680A>T IARC TP53 substitution exon 1 TP53_g.13878del NM_000546:g.13878del IARC TP53 deletion exon 1 TP53_g.12649_12661del NM_000546:g.12649_12661del IARC TP53 deletion exon 1 TP53_g.12451_12460del NM_000546:g.12451_12460del IARC TP53 deletion exon 1 TP53_g.13360_13361ins1 NM_000546:g.13360_13361ins1 IARC TP53 insertion exon 1 TP53_g.12684_12685ins1 NM_000546:g.12684_12685ins1 IARC TP53 insertion exon 1 TP53_g.12383A>T NM_000546:g.12383A>T IARC TP53 substitution exon 1 TP53_g.12698A>G NM_000546:g.12698A>G IARC TP53 substitution exon 1 TP53_g.12719T>C NM_000546:g.12719T>C IARC TP53 substitution exon 1 TP53_g.13838A>C NM_000546:g.13838A>C IARC TP53 substitution exon 1 TP53_g.12636C>T NM_000546:g.12636C>T IARC TP53 substitution exon 1 TP53_g.30002_30011del NM_000546:g.30002_30011del IARC TP53 deletion intron 1 TP53_g.13761A>T NM_000546:g.13761A>T IARC TP53 substitution intron 1 TP53_g.12627A>T NM_000546:g.12627A>T IARC TP53 substitution intron 1 TP53_g.12712_12727del NM_000546:g.12712_12727del IARC TP53 deletion exon 1 TP53_g.12463del NM_000546:g.12463del IARC TP53 deletion exon 1 TP53_g.12653T>G NM_000546:g.12653T>G IARC TP53 substitution exon 1 TP53_g.12414_12415ins5 NM_000546:g.12414_12415ins5 IARC TP53 insertion exon 1 TP53_g.12647A>T NM_000546:g.12647A>T IARC TP53 substitution exon 1 TP53_g.12481_12484del NM_000546:g.12481_12484del IARC TP53 deletion exon 1 TP53_g.12489_12490ins8 NM_000546:g.12489_12490ins8 IARC TP53 insertion exon 1 TP53_g.13850C>T NM_000546:g.13850C>T IARC TP53 substitution exon 1 TP53_g.12633_12634ins1 NM_000546:g.12633_12634ins1 IARC TP53 insertion exon 1 TP53_g.12499G>A NM_000546:g.12499G>A IARC TP53 substitution exon 1 TP53_g.13323G>A NM_000546:g.13323G>A IARC TP53 substitution exon 1 TP53_g.12711T>G NM_000546:g.12711T>G IARC TP53 substitution exon 1 TP53_g.13818A>T NM_000546:g.13818A>T IARC TP53 substitution exon 1 TP53_g.13828G>T NM_000546:g.13828G>T IARC TP53 substitution exon 1 TP53_g.13386_13387delinsAG NM_000546:g.13386_13387delinsAG IARC TP53 complex exon 1 TP53_g.13389del NM_000546:g.13389del IARC TP53 deletion exon 1 TP53_g.12508_12533del NM_000546:g.12508_12533del IARC TP53 deletion exon 1 TP53_g.13763_13899del NM_000546:g.13763_13899del IARC TP53 deletion exon 1 TP53_g.12432T>A NM_000546:g.12432T>A IARC TP53 substitution exon 1 TP53_g.13385_13386delinsAA NM_000546:g.13385_13386delinsAA IARC TP53 complex exon 1 TP53_g.12547G>A NM_000546:g.12547G>A IARC TP53 substitution exon 1 TP53_g.13822A>C NM_000546:g.13822A>C IARC TP53 substitution exon 1 TP53_g.13881del NM_000546:g.13881del IARC TP53 deletion exon 1 TP53_g.12454C>T NM_000546:g.12454C>T IARC TP53 substitution exon 1 TP53_g.11463_11475del NM_000546:g.11463_11475del IARC TP53 deletion exon 1 TP53_g.11370_11373del NM_000546:g.11370_11373del IARC TP53 deletion exon 1 TP53_g.11560G>C NM_000546:g.11560G>C IARC TP53 substitution exon 1 TP53_g.13370_13382del NM_000546:g.13370_13382del IARC TP53 deletion exon 1 TP53_g.11553_11557del NM_000546:g.11553_11557del IARC TP53 deletion exon 1 TP53_g.13387_13388ins4 NM_000546:g.13387_13388ins4 IARC TP53 insertion exon 1 TP53_g.13857_13871del NM_000546:g.13857_13871del IARC TP53 deletion exon 1 TP53_g.11472del NM_000546:g.11472del IARC TP53 deletion exon 1 TP53_g.13796G>C NM_000546:g.13796G>C IARC TP53 substitution exon 1 TP53_g.12640C>A NM_000546:g.12640C>A IARC TP53 substitution exon 1 TP53_g.12394C>A NM_000546:g.12394C>A IARC TP53 substitution exon 1 TP53_g.13370_13371delinsCA NM_000546:g.13370_13371delinsCA IARC TP53 complex exon 1 TP53_g.13807C>A NM_000546:g.13807C>A IARC TP53 substitution exon 1 TP53_g.12400del NM_000546:g.12400del IARC TP53 deletion exon 1 TP53_g.12503T>C NM_000546:g.12503T>C IARC TP53 substitution exon 1 TP53_g.12485C>T NM_000546:g.12485C>T IARC TP53 substitution exon 1 TP53_g.11424A>T NM_000546:g.11424A>T IARC TP53 substitution exon 1 TP53_g.13767A>C NM_000546:g.13767A>C IARC TP53 substitution exon 1 TP53_g.13363C>T NM_000546:g.13363C>T IARC TP53 substitution exon 1 TP53_g.11605C>T NM_000546:g.11605C>T IARC TP53 substitution exon 1 TP53_g.12491A>T NM_000546:g.12491A>T IARC TP53 substitution exon 1 TP53_g.11541_11561del NM_000546:g.11541_11561del IARC TP53 deletion exon 1 TP53_g.11359T>C NM_000546:g.11359T>C IARC TP53 substitution exon 1 TP53_g.14054del NM_000546:g.14054del IARC TP53 deletion exon 1 TP53_g.13818_13819ins1 NM_000546:g.13818_13819ins1 IARC TP53 insertion exon 1 TP53_g.12498_12499del NM_000546:g.12498_12499del IARC TP53 deletion exon 1 TP53_g.12692del NM_000546:g.12692del IARC TP53 deletion exon 1 TP53_g.13359del NM_000546:g.13359del IARC TP53 deletion exon 1 TP53_g.13357_13358ins2 NM_000546:g.13357_13358ins2 IARC TP53 insertion exon 1 TP53_g.11389G>A NM_000546:g.11389G>A IARC TP53 substitution exon 1 TP53_g.13323_13324del NM_000546:g.13323_13324del IARC TP53 deletion exon 1 TP53_g.13764_13765delinsCA NM_000546:g.13764_13765delinsCA IARC TP53 complex exon 1 TP53_g.13852A>G NM_000546:g.13852A>G IARC TP53 substitution exon 1 TP53_g.12407C>T NM_000546:g.12407C>T IARC TP53 substitution exon 1 TP53_g.13894A>G NM_000546:g.13894A>G IARC TP53 substitution exon 1 TP53_g.12454C>A NM_000546:g.12454C>A IARC TP53 substitution exon 1 TP53_g.12519C>T NM_000546:g.12519C>T IARC TP53 substitution exon 1 TP53_g.13861A>G NM_000546:g.13861A>G IARC TP53 substitution exon 1 TP53_g.13898A>T NM_000546:g.13898A>T IARC TP53 substitution exon 1 TP53_g.13412G>C NM_000546:g.13412G>C IARC TP53 substitution exon 1 TP53_g.13839del NM_000546:g.13839del IARC TP53 deletion exon 1 TP53_g.12474C>G NM_000546:g.12474C>G IARC TP53 substitution exon 1 TP53_g.13402_13403ins28 NM_000546:g.13402_13403ins28 IARC TP53 insertion exon 1 TP53_g.12695G>A NM_000546:g.12695G>A IARC TP53 substitution exon 1 TP53_g.12695G>C NM_000546:g.12695G>C IARC TP53 substitution exon 1 TP53_g.12491A>C NM_000546:g.12491A>C IARC TP53 substitution exon 1 TP53_g.12441_12442ins1 NM_000546:g.12441_12442ins1 IARC TP53 insertion exon 1 TP53_g.12509del NM_000546:g.12509del IARC TP53 deletion exon 1 TP53_g.13404C>A NM_000546:g.13404C>A IARC TP53 substitution exon 1 TP53_g.12516_12517ins1 NM_000546:g.12516_12517ins1 IARC TP53 insertion exon 1 TP53_g.12580T>G NM_000546:g.12580T>G IARC TP53 substitution intron 1 TP53_g.12617G>A NM_000546:g.12617G>A IARC TP53 substitution intron 1 TP53_g.13849G>T NM_000546:g.13849G>T IARC TP53 substitution exon 1 TP53_g.13392T>C NM_000546:g.13392T>C IARC TP53 substitution exon 1 TP53_g.13807C>T NM_000546:g.13807C>T IARC TP53 substitution exon 1 TP53_g.16938A>C NM_000546:g.16938A>C IARC TP53 substitution exon 1 TP53_g.13310G>C NM_000546:g.13310G>C IARC TP53 substitution exon 1 TP53_g.13789T>A NM_000546:g.13789T>A IARC TP53 substitution exon 1 TP53_g.12508_12516del NM_000546:g.12508_12516del IARC TP53 deletion exon 1 TP53_g.12740A>G NM_000546:g.12740A>G IARC TP53 substitution exon 1 TP53_g.13374T>A NM_000546:g.13374T>A IARC TP53 substitution exon 1 TP53_g.12641C>A NM_000546:g.12641C>A IARC TP53 substitution exon 1 TP53_g.12363_12364ins3 NM_000546:g.12363_12364ins3 IARC TP53 insertion exon 1 TP53_g.12411_12412ins1 NM_000546:g.12411_12412ins1 IARC TP53 insertion exon 1 TP53_g.13355A>C NM_000546:g.13355A>C IARC TP53 substitution exon 1 TP53_g.13869C>T NM_000546:g.13869C>T IARC TP53 substitution exon 1 TP53_g.13782A>C NM_000546:g.13782A>C IARC TP53 substitution exon 1 TP53_g.12702_12703ins1 NM_000546:g.12702_12703ins1 IARC TP53 insertion exon 1 TP53_g.13829C>T NM_000546:g.13829C>T IARC TP53 substitution exon 1 TP53_g.13328A>G NM_000546:g.13328A>G IARC TP53 substitution exon 1 TP53_g.12732G>A NM_000546:g.12732G>A IARC TP53 substitution exon 1 TP53_g.12422T>C NM_000546:g.12422T>C IARC TP53 substitution exon 1 TP53_g.13790T>C NM_000546:g.13790T>C IARC TP53 substitution exon 1 TP53_g.12640C>T NM_000546:g.12640C>T IARC TP53 substitution exon 1 TP53_g.13310G>A NM_000546:g.13310G>A IARC TP53 substitution exon 1 TP53_g.13418A>C NM_000546:g.13418A>C IARC TP53 substitution exon 1 TP53_g.12508_12517del NM_000546:g.12508_12517del IARC TP53 deletion exon 1 TP53_g.12514T>G NM_000546:g.12514T>G IARC TP53 substitution exon 1 TP53_g.12652del NM_000546:g.12652del IARC TP53 deletion exon 1 TP53_g.13792A>T NM_000546:g.13792A>T IARC TP53 substitution exon 1 TP53_g.14027A>T NM_000546:g.14027A>T IARC TP53 substitution exon 1 TP53_g.12518C>A NM_000546:g.12518C>A IARC TP53 substitution exon 1 TP53_g.13793G>C NM_000546:g.13793G>C IARC TP53 substitution exon 1 TP53_g.13856A>T NM_000546:g.13856A>T IARC TP53 substitution exon 1 TP53_g.13878C>T NM_000546:g.13878C>T IARC TP53 substitution exon 1 TP53_g.13386_13387delinsTG NM_000546:g.13386_13387delinsTG IARC TP53 complex exon 1 TP53_g.12518_12519delinsTT NM_000546:g.12518_12519delinsTT IARC TP53 complex exon 1 TP53_g.12674G>C NM_000546:g.12674G>C IARC TP53 substitution exon 1 TP53_g.12447_12448ins1 NM_000546:g.12447_12448ins1 IARC TP53 insertion exon 1 TP53_g.13302T>A NM_000546:g.13302T>A IARC TP53 substitution intron 1 TP53_g.13418A>T NM_000546:g.13418A>T IARC TP53 substitution exon 1 TP53_g.13888G>C NM_000546:g.13888G>C IARC TP53 substitution exon 1 TP53_g.13939del NM_000546:g.13939del IARC TP53 deletion intron 1 TP53_g.13815G>A NM_000546:g.13815G>A IARC TP53 substitution exon 1 TP53_g.12503T>G NM_000546:g.12503T>G IARC TP53 substitution exon 1 TP53_g.14061T>A NM_000546:g.14061T>A IARC TP53 substitution exon 1 TP53_g.12436_12447del NM_000546:g.12436_12447del IARC TP53 deletion exon 1 TP53_g.12742G>T NM_000546:g.12742G>T IARC TP53 substitution intron 1 TP53_g.13328A>T NM_000546:g.13328A>T IARC TP53 substitution exon 1 TP53_g.13348G>C NM_000546:g.13348G>C IARC TP53 substitution exon 1 TP53_g.13366G>C NM_000546:g.13366G>C IARC TP53 substitution exon 1 TP53_g.13881C>G NM_000546:g.13881C>G IARC TP53 substitution exon 1 TP53_g.12463G>T NM_000546:g.12463G>T IARC TP53 substitution exon 1 TP53_g.14032G>C NM_000546:g.14032G>C IARC TP53 substitution exon 1 TP53_g.12479A>T NM_000546:g.12479A>T IARC TP53 substitution exon 1 TP53_g.12656G>A NM_000546:g.12656G>A IARC TP53 substitution exon 1 TP53_g.12693C>A NM_000546:g.12693C>A IARC TP53 substitution exon 1 TP53_g.12693C>G NM_000546:g.12693C>G IARC TP53 substitution exon 1 TP53_g.13388_13390del NM_000546:g.13388_13390del IARC TP53 deletion exon 1 TP53_g.12399G>A NM_000546:g.12399G>A IARC TP53 substitution exon 1 TP53_g.13830_13831del NM_000546:g.13830_13831del IARC TP53 deletion exon 1 TP53_g.12687_12688ins4 NM_000546:g.12687_12688ins4 IARC TP53 insertion exon 1 TP53_g.12677del NM_000546:g.12677del IARC TP53 deletion exon 1 TP53_g.12488A>G NM_000546:g.12488A>G IARC TP53 substitution exon 1 TP53_g.12439_12440del NM_000546:g.12439_12440del IARC TP53 deletion exon 1 TP53_g.13866C>T NM_000546:g.13866C>T IARC TP53 substitution exon 1 TP53_g.12664G>A NM_000546:g.12664G>A IARC TP53 substitution exon 1 TP53_g.13406C>G NM_000546:g.13406C>G IARC TP53 substitution exon 1 TP53_g.13825delinsCCC NM_000546:g.13825delinsCCC IARC TP53 complex exon 1 TP53_g.13815G>T NM_000546:g.13815G>T IARC TP53 substitution exon 1 TP53_g.13870A>C NM_000546:g.13870A>C IARC TP53 substitution exon 1 TP53_g.13341del NM_000546:g.13341del IARC TP53 deletion exon 1 TP53_g.12721G>A NM_000546:g.12721G>A IARC TP53 substitution exon 1 TP53_g.12381_12382ins1 NM_000546:g.12381_12382ins1 IARC TP53 insertion exon 1 TP53_g.12640_12642del NM_000546:g.12640_12642del IARC TP53 deletion exon 1 TP53_g.12515_12516ins2 NM_000546:g.12515_12516ins2 IARC TP53 insertion exon 1 TP53_g.12635C>G NM_000546:g.12635C>G IARC TP53 substitution exon 1 TP53_g.12379A>C NM_000546:g.12379A>C IARC TP53 substitution exon 1 TP53_g.13358T>C NM_000546:g.13358T>C IARC TP53 substitution exon 1 TP53_g.12511_12512del NM_000546:g.12511_12512del IARC TP53 deletion exon 1 TP53_g.12490C>A NM_000546:g.12490C>A IARC TP53 substitution exon 1 TP53_g.12470_12471delinsGA NM_000546:g.12470_12471delinsGA IARC TP53 complex exon 1 TP53_g.13340A>G NM_000546:g.13340A>G IARC TP53 substitution exon 1 TP53_g.12516del NM_000546:g.12516del IARC TP53 deletion exon 1 TP53_g.12411C>T NM_000546:g.12411C>T IARC TP53 substitution exon 1 TP53_g.16916G>C NM_000546:g.16916G>C IARC TP53 substitution exon 1 TP53_g.13260_13261ins1 NM_000546:g.13260_13261ins1 IARC TP53 insertion intron 1 TP53_g.12525T>A NM_000546:g.12525T>A IARC TP53 substitution exon 1 TP53_g.14007C>G NM_000546:g.14007C>G IARC TP53 substitution exon 1 TP53_g.12694_12708del NM_000546:g.12694_12708del IARC TP53 deletion exon 1 TP53_g.13880_13881ins1 NM_000546:g.13880_13881ins1 IARC TP53 insertion exon 1 TP53_g.12486_12487ins1 NM_000546:g.12486_12487ins1 IARC TP53 insertion exon 1 TP53_g.12697del NM_000546:g.12697del IARC TP53 deletion exon 1 TP53_g.12682T>C NM_000546:g.12682T>C IARC TP53 substitution exon 1 TP53_g.12461G>C NM_000546:g.12461G>C IARC TP53 substitution exon 1 TP53_g.12641_12650del NM_000546:g.12641_12650del IARC TP53 deletion exon 1 TP53_g.11380_11419del NM_000546:g.11380_11419del IARC TP53 deletion exon 1 TP53_g.13401T>A NM_000546:g.13401T>A IARC TP53 substitution exon 1 TP53_g.11531G>A NM_000546:g.11531G>A IARC TP53 substitution exon 1 TP53_g.11549C>G NM_000546:g.11549C>G IARC TP53 substitution exon 1 TP53_g.14044T>G NM_000546:g.14044T>G IARC TP53 substitution exon 1 TP53_g.13373_13391del NM_000546:g.13373_13391del IARC TP53 deletion exon 1 TP53_g.16927_16941del NM_000546:g.16927_16941del IARC TP53 deletion exon 1 TP53_g.12627_12636del NM_000546:g.12627_12636del IARC TP53 deletion intron 1 TP53_g.30003_30015del NM_000546:g.30003_30015del IARC TP53 deletion intron 1 TP53_g.13776G>C NM_000546:g.13776G>C IARC TP53 substitution exon 1 TP53_g.12497_12504del NM_000546:g.12497_12504del IARC TP53 deletion exon 1 TP53_g.13337T>G NM_000546:g.13337T>G IARC TP53 substitution exon 1 TP53_g.12404A>G NM_000546:g.12404A>G IARC TP53 substitution exon 1 TP53_g.16952A>G NM_000546:g.16952A>G IARC TP53 substitution exon 1 TP53_g.12442C>G NM_000546:g.12442C>G IARC TP53 substitution exon 1 TP53_g.30017_30018ins1200 NM_000546:g.30017_30018ins1200 IARC TP53 insertion exon 1 TP53_g.13391del NM_000546:g.13391del IARC TP53 deletion exon 1 TP53_g.11536C>T NM_000546:g.11536C>T IARC TP53 substitution exon 1 TP53_g.11580G>C NM_000546:g.11580G>C IARC TP53 substitution exon 1 TP53_g.11433G>C NM_000546:g.11433G>C IARC TP53 substitution exon 1 TP53_g.11543G>C NM_000546:g.11543G>C IARC TP53 substitution exon 1 TP53_g.12512_12513del NM_000546:g.12512_12513del IARC TP53 deletion exon 1 TP53_g.13358T>A NM_000546:g.13358T>A IARC TP53 substitution exon 1 TP53_g.13833del NM_000546:g.13833del IARC TP53 deletion exon 1 TP53_g.13842del NM_000546:g.13842del IARC TP53 deletion exon 1 TP53_g.13356G>C NM_000546:g.13356G>C IARC TP53 substitution exon 1 TP53_g.13896del NM_000546:g.13896del IARC TP53 deletion exon 1 TP53_g.12461_12462delinsTT NM_000546:g.12461_12462delinsTT IARC TP53 complex exon 1 TP53_g.12504T>G NM_000546:g.12504T>G IARC TP53 substitution exon 1 TP53_g.13726_13770del NM_000546:g.13726_13770del IARC TP53 deletion intron 1 TP53_g.13410A>T NM_000546:g.13410A>T IARC TP53 substitution exon 1 TP53_g.13786G>T NM_000546:g.13786G>T IARC TP53 substitution exon 1 TP53_g.13369C>T NM_000546:g.13369C>T IARC TP53 substitution exon 1 TP53_g.12402_12403ins4 NM_000546:g.12402_12403ins4 IARC TP53 insertion exon 1 TP53_g.13788_13809del NM_000546:g.13788_13809del IARC TP53 deletion exon 1 TP53_g.12463G>A NM_000546:g.12463G>A IARC TP53 substitution exon 1 TP53_g.30015_30022del NM_000546:g.30015_30022del IARC TP53 deletion exon 1 TP53_g.30014_30015ins6 NM_000546:g.30014_30015ins6 IARC TP53 insertion exon 1 TP53_g.30016_30017ins5 NM_000546:g.30016_30017ins5 IARC TP53 insertion exon 1 TP53_g.12457G>A NM_000546:g.12457G>A IARC TP53 substitution exon 1 TP53_g.12650T>A NM_000546:g.12650T>A IARC TP53 substitution exon 1 TP53_g.12666A>G NM_000546:g.12666A>G IARC TP53 substitution exon 1 TP53_g.13840A>G NM_000546:g.13840A>G IARC TP53 substitution exon 1 TP53_g.12474C>T NM_000546:g.12474C>T IARC TP53 substitution exon 1 TP53_g.14035A>G NM_000546:g.14035A>G IARC TP53 substitution exon 1 TP53_g.12509G>A NM_000546:g.12509G>A IARC TP53 substitution exon 1 TP53_g.12657A>G NM_000546:g.12657A>G IARC TP53 substitution exon 1 TP53_g.12644A>G NM_000546:g.12644A>G IARC TP53 substitution exon 1 TP53_g.12417G>A NM_000546:g.12417G>A IARC TP53 substitution exon 1 TP53_g.12453C>T NM_000546:g.12453C>T IARC TP53 substitution exon 1 TP53_g.12454del NM_000546:g.12454del IARC TP53 deletion exon 1 TP53_g.12635C>T NM_000546:g.12635C>T IARC TP53 substitution exon 1 TP53_g.12709C>T NM_000546:g.12709C>T IARC TP53 substitution exon 1 TP53_g.12451del NM_000546:g.12451del IARC TP53 deletion exon 1 TP53_g.12451_12452del NM_000546:g.12451_12452del IARC TP53 deletion exon 1 TP53_g.13787C>T NM_000546:g.13787C>T IARC TP53 substitution exon 1 TP53_g.12371C>T NM_000546:g.12371C>T IARC TP53 substitution exon 1 TP53_g.12395A>G NM_000546:g.12395A>G IARC TP53 substitution exon 1 TP53_g.13797_13798delinsAA NM_000546:g.13797_13798delinsAA IARC TP53 complex exon 1 TP53_g.13893del NM_000546:g.13893del IARC TP53 deletion exon 1 TP53_g.13812del NM_000546:g.13812del IARC TP53 deletion exon 1 TP53_g.13361T>G NM_000546:g.13361T>G IARC TP53 substitution exon 1 TP53_g.12454C>G NM_000546:g.12454C>G IARC TP53 substitution exon 1 TP53_g.12413C>T NM_000546:g.12413C>T IARC TP53 substitution exon 1 TP53_g.12376C>T NM_000546:g.12376C>T IARC TP53 substitution exon 1 TP53_g.13850C>G NM_000546:g.13850C>G IARC TP53 substitution exon 1 TP53_g.12493A>G NM_000546:g.12493A>G IARC TP53 substitution exon 1 TP53_g.12665G>C NM_000546:g.12665G>C IARC TP53 substitution exon 1 TP53_g.13366G>A NM_000546:g.13366G>A IARC TP53 substitution exon 1 TP53_g.13867A>G NM_000546:g.13867A>G IARC TP53 substitution exon 1 TP53_g.13856A>G NM_000546:g.13856A>G IARC TP53 substitution exon 1 TP53_g.13791G>C NM_000546:g.13791G>C IARC TP53 substitution exon 1 TP53_g.13416C>T NM_000546:g.13416C>T IARC TP53 substitution exon 1 TP53_g.12445C>T NM_000546:g.12445C>T IARC TP53 substitution exon 1 TP53_g.12417del NM_000546:g.12417del IARC TP53 deletion exon 1 TP53_g.13873A>C NM_000546:g.13873A>C IARC TP53 substitution exon 1 TP53_g.12451A>C NM_000546:g.12451A>C IARC TP53 substitution exon 1 TP53_g.16895G>T NM_000546:g.16895G>T IARC TP53 substitution exon 1 TP53_g.16905C>T NM_000546:g.16905C>T IARC TP53 substitution exon 1 TP53_g.12481_12495del NM_000546:g.12481_12495del IARC TP53 deletion exon 1 TP53_g.12456_12457delinsGT NM_000546:g.12456_12457delinsGT IARC TP53 complex exon 1 TP53_g.12457del NM_000546:g.12457del IARC TP53 deletion exon 1 TP53_g.13351T>C NM_000546:g.13351T>C IARC TP53 substitution exon 1 TP53_g.12501G>A NM_000546:g.12501G>A IARC TP53 substitution exon 1 TP53_g.13351T>G NM_000546:g.13351T>G IARC TP53 substitution exon 1 TP53_g.13825del NM_000546:g.13825del IARC TP53 deletion exon 1 TP53_g.12631_12642del NM_000546:g.12631_12642del IARC TP53 deletion exon 1 TP53_g.12708_12709ins1 NM_000546:g.12708_12709ins1 IARC TP53 insertion exon 1 TP53_g.12716T>C NM_000546:g.12716T>C IARC TP53 substitution exon 1 TP53_g.12721G>C NM_000546:g.12721G>C IARC TP53 substitution exon 1 TP53_g.13810G>C NM_000546:g.13810G>C IARC TP53 substitution exon 1 TP53_g.13864C>T NM_000546:g.13864C>T IARC TP53 substitution exon 1 TP53_g.12547del NM_000546:g.12547del IARC TP53 deletion exon 1 TP53_g.13382_13387del NM_000546:g.13382_13387del IARC TP53 deletion exon 1 TP53_g.12390_12391ins2 NM_000546:g.12390_12391ins2 IARC TP53 insertion exon 1 TP53_g.13770_13772del NM_000546:g.13770_13772del IARC TP53 deletion exon 1 TP53_g.12389T>G NM_000546:g.12389T>G IARC TP53 substitution exon 1 TP53_g.12444_12445ins9 NM_000546:g.12444_12445ins9 IARC TP53 insertion exon 1 TP53_g.13360_13361ins4 NM_000546:g.13360_13361ins4 IARC TP53 insertion exon 1 TP53_g.12505del NM_000546:g.12505del IARC TP53 deletion exon 1 TP53_g.12544del NM_000546:g.12544del IARC TP53 deletion exon 1 TP53_g.11327_11328ins1 NM_000546:g.11327_11328ins1 IARC TP53 insertion exon 1 TP53_g.12485C>A NM_000546:g.12485C>A IARC TP53 substitution exon 1 TP53_g.12694A>C NM_000546:g.12694A>C IARC TP53 substitution exon 1 TP53_g.12499del NM_000546:g.12499del IARC TP53 deletion exon 1 TP53_g.12507_12508ins1 NM_000546:g.12507_12508ins1 IARC TP53 insertion exon 1 TP53_g.12460_12461del NM_000546:g.12460_12461del IARC TP53 deletion exon 1 TP53_g.12400_12402del NM_000546:g.12400_12402del IARC TP53 deletion exon 1 TP53_g.13807C>G NM_000546:g.13807C>G IARC TP53 substitution exon 1 TP53_g.12458T>G NM_000546:g.12458T>G IARC TP53 substitution exon 1 TP53_g.11580del NM_000546:g.11580del IARC TP53 deletion exon 1 TP53_g.12451_12458del NM_000546:g.12451_12458del IARC TP53 deletion exon 1 TP53_g.13811T>A NM_000546:g.13811T>A IARC TP53 substitution exon 1 TP53_g.12721_12723del NM_000546:g.12721_12723del IARC TP53 deletion exon 1 TP53_g.13417_13418ins4 NM_000546:g.13417_13418ins4 IARC TP53 insertion exon 1 TP53_g.13393C>T NM_000546:g.13393C>T IARC TP53 substitution exon 1 TP53_g.13399C>T NM_000546:g.13399C>T IARC TP53 substitution exon 1 TP53_g.12664del NM_000546:g.12664del IARC TP53 deletion exon 1 TP53_g.13800del NM_000546:g.13800del IARC TP53 deletion exon 1 TP53_g.13768A>G NM_000546:g.13768A>G IARC TP53 substitution exon 1 TP53_g.13800G>A NM_000546:g.13800G>A IARC TP53 substitution exon 1 TP53_g.13843A>G NM_000546:g.13843A>G IARC TP53 substitution exon 1 TP53_g.11430C>T NM_000546:g.11430C>T IARC TP53 substitution exon 1 TP53_g.12460_12467del NM_000546:g.12460_12467del IARC TP53 deletion exon 1 TP53_g.11608T>C NM_000546:g.11608T>C IARC TP53 substitution intron 1 TP53_g.13862G>A NM_000546:g.13862G>A IARC TP53 substitution exon 1 TP53_g.12522_12523delinsAT NM_000546:g.12522_12523delinsAT IARC TP53 complex exon 1 TP53_g.12495G>A NM_000546:g.12495G>A IARC TP53 substitution exon 1 TP53_g.14048G>T NM_000546:g.14048G>T IARC TP53 substitution exon 1 TP53_g.11552C>G NM_000546:g.11552C>G IARC TP53 substitution exon 1 TP53_g.11559C>G NM_000546:g.11559C>G IARC TP53 substitution exon 1 TP53_g.13991G>T NM_000546:g.13991G>T IARC TP53 substitution intron 1 TP53_g.12738_12739ins5 NM_000546:g.12738_12739ins5 IARC TP53 insertion exon 1 TP53_g.12499_12544del NM_000546:g.12499_12544del IARC TP53 deletion exon 1 TP53_g.13857_13858del NM_000546:g.13857_13858del IARC TP53 deletion exon 1 TP53_g.13815G>C NM_000546:g.13815G>C IARC TP53 substitution exon 1 TP53_g.12490del NM_000546:g.12490del IARC TP53 deletion exon 1 TP53_g.11385C>T NM_000546:g.11385C>T IARC TP53 substitution exon 1 TP53_g.11508C>T NM_000546:g.11508C>T IARC TP53 substitution exon 1 TP53_g.12673C>T NM_000546:g.12673C>T IARC TP53 substitution exon 1 TP53_g.13420_13761del NM_000546:g.13420_13761del IARC TP53 deletion intron 1 TP53_g.12490C>T NM_000546:g.12490C>T IARC TP53 substitution exon 1 TP53_g.13326C>T NM_000546:g.13326C>T IARC TP53 substitution exon 1 TP53_g.13320A>C NM_000546:g.13320A>C IARC TP53 substitution exon 1 TP53_g.13341A>T NM_000546:g.13341A>T IARC TP53 substitution exon 1 TP53_g.13327C>A NM_000546:g.13327C>A IARC TP53 substitution exon 1 TP53_g.13376A>T NM_000546:g.13376A>T IARC TP53 substitution exon 1 TP53_g.13337_13339del NM_000546:g.13337_13339del IARC TP53 deletion exon 1 TP53_g.11285_11360del NM_000546:g.11285_11360del IARC TP53 deletion intron 1 TP53_g.12442del NM_000546:g.12442del IARC TP53 deletion exon 1 TP53_g.12457G>C NM_000546:g.12457G>C IARC TP53 substitution exon 1 TP53_g.13391C>T NM_000546:g.13391C>T IARC TP53 substitution exon 1 TP53_g.12661G>C NM_000546:g.12661G>C IARC TP53 substitution exon 1 TP53_g.13381G>C NM_000546:g.13381G>C IARC TP53 substitution exon 1 TP53_g.13381G>A NM_000546:g.13381G>A IARC TP53 substitution exon 1 TP53_g.11557T>C NM_000546:g.11557T>C IARC TP53 substitution exon 1 TP53_g.12714T>G NM_000546:g.12714T>G IARC TP53 substitution exon 1 TP53_g.13792_13795del NM_000546:g.13792_13795del IARC TP53 deletion exon 1 TP53_g.12651_12655del NM_000546:g.12651_12655del IARC TP53 deletion exon 1 TP53_g.13818_13819delinsCC NM_000546:g.13818_13819delinsCC IARC TP53 complex exon 1 TP53_g.12722T>G NM_000546:g.12722T>G IARC TP53 substitution exon 1 TP53_g.12682T>A NM_000546:g.12682T>A IARC TP53 substitution exon 1 TP53_g.13771del NM_000546:g.13771del IARC TP53 deletion exon 1 TP53_g.11482C>T NM_000546:g.11482C>T IARC TP53 substitution exon 1 TP53_g.14063C>T NM_000546:g.14063C>T IARC TP53 substitution exon 1 TP53_g.11506C>T NM_000546:g.11506C>T IARC TP53 substitution exon 1 TP53_g.12669_12670ins1 NM_000546:g.12669_12670ins1 IARC TP53 insertion exon 1 TP53_g.12520C>T NM_000546:g.12520C>T IARC TP53 substitution exon 1 TP53_g.12672_12673delinsTT NM_000546:g.12672_12673delinsTT IARC TP53 complex exon 1 TP53_g.12675del NM_000546:g.12675del IARC TP53 deletion exon 1 TP53_g.11091C>T NM_000546:g.11091C>T IARC TP53 substitution intron 1 TP53_g.12734C>T NM_000546:g.12734C>T IARC TP53 substitution exon 1 TP53_g.12736del NM_000546:g.12736del IARC TP53 deletion exon 1 TP53_g.12406A>T NM_000546:g.12406A>T IARC TP53 substitution exon 1 TP53_g.12725C>T NM_000546:g.12725C>T IARC TP53 substitution exon 1 TP53_g.11597del NM_000546:g.11597del IARC TP53 deletion exon 1 TP53_g.12448_12462del NM_000546:g.12448_12462del IARC TP53 deletion exon 1 TP53_g.12390_12391ins19 NM_000546:g.12390_12391ins19 IARC TP53 insertion exon 1 TP53_g.12642_12643ins20 NM_000546:g.12642_12643ins20 IARC TP53 insertion exon 1 TP53_g.13899G>T NM_000546:g.13899G>T IARC TP53 substitution exon 1 TP53_g.12727T>A NM_000546:g.12727T>A IARC TP53 substitution exon 1 TP53_g.12561_12562ins1 NM_000546:g.12561_12562ins1 IARC TP53 insertion intron 1 TP53_g.13834A>G NM_000546:g.13834A>G IARC TP53 substitution exon 1 TP53_g.14018C>A NM_000546:g.14018C>A IARC TP53 substitution exon 1 TP53_g.13911G>A NM_000546:g.13911G>A IARC TP53 substitution intron 1 TP53_g.11457_11508del NM_000546:g.11457_11508del IARC TP53 deletion exon 1 TP53_g.12373_12378del NM_000546:g.12373_12378del IARC TP53 deletion exon 1 TP53_g.14073G>A NM_000546:g.14073G>A IARC TP53 substitution intron 1 TP53_g.13790_13791ins2 NM_000546:g.13790_13791ins2 IARC TP53 insertion exon 1 TP53_g.11464C>T NM_000546:g.11464C>T IARC TP53 substitution exon 1 TP53_g.12503T>A NM_000546:g.12503T>A IARC TP53 substitution exon 1 TP53_g.12628G>C NM_000546:g.12628G>C IARC TP53 substitution intron 1 TP53_g.13811_13812ins21 NM_000546:g.13811_13812ins21 IARC TP53 insertion exon 1 TP53_g.13394A>T NM_000546:g.13394A>T IARC TP53 substitution exon 1 TP53_g.12693_12694ins1 NM_000546:g.12693_12694ins1 IARC TP53 insertion exon 1 TP53_g.13387_13388ins5 NM_000546:g.13387_13388ins5 IARC TP53 insertion exon 1 TP53_g.11457_11509del NM_000546:g.11457_11509del IARC TP53 deletion exon 1 TP53_g.16985A>G NM_000546:g.16985A>G IARC TP53 substitution exon 1 TP53_g.12364_12366del NM_000546:g.12364_12366del IARC TP53 deletion exon 1 TP53_g.16936G>T NM_000546:g.16936G>T IARC TP53 substitution exon 1 TP53_g.12655C>A NM_000546:g.12655C>A IARC TP53 substitution exon 1 TP53_g.13806G>T NM_000546:g.13806G>T IARC TP53 substitution exon 1 TP53_g.12676G>A NM_000546:g.12676G>A IARC TP53 substitution exon 1 TP53_g.13318T>G NM_000546:g.13318T>G IARC TP53 substitution exon 1 TP53_g.12526G>T NM_000546:g.12526G>T IARC TP53 substitution exon 1 TP53_g.12674G>A NM_000546:g.12674G>A IARC TP53 substitution exon 1 TP53_g.13827_13839del NM_000546:g.13827_13839del IARC TP53 deletion exon 1 TP53_g.12703_12704del NM_000546:g.12703_12704del IARC TP53 deletion exon 1 TP53_g.11581G>A NM_000546:g.11581G>A IARC TP53 substitution exon 1 TP53_g.13330C>T NM_000546:g.13330C>T IARC TP53 substitution exon 1 TP53_g.13378C>T NM_000546:g.13378C>T IARC TP53 substitution exon 1 TP53_g.12400_12409del NM_000546:g.12400_12409del IARC TP53 deletion exon 1 TP53_g.12734C>A NM_000546:g.12734C>A IARC TP53 substitution exon 1 TP53_g.12691G>A NM_000546:g.12691G>A IARC TP53 substitution exon 1 TP53_g.12388del NM_000546:g.12388del IARC TP53 deletion exon 1 TP53_g.12695_12696del NM_000546:g.12695_12696del IARC TP53 deletion exon 1 TP53_g.12700_12701ins1 NM_000546:g.12700_12701ins1 IARC TP53 insertion exon 1 TP53_g.12387_12388ins8 NM_000546:g.12387_12388ins8 IARC TP53 insertion exon 1 TP53_g.12492del NM_000546:g.12492del IARC TP53 deletion exon 1 TP53_g.13366del NM_000546:g.13366del IARC TP53 deletion exon 1 TP53_g.13793G>A NM_000546:g.13793G>A IARC TP53 substitution exon 1 TP53_g.12391_12402del NM_000546:g.12391_12402del IARC TP53 deletion exon 1 TP53_g.12470C>T NM_000546:g.12470C>T IARC TP53 substitution exon 1 TP53_g.12362A>G NM_000546:g.12362A>G IARC TP53 substitution intron 1 TP53_g.12422T>G NM_000546:g.12422T>G IARC TP53 substitution exon 1 TP53_g.13309G>C NM_000546:g.13309G>C IARC TP53 substitution intron 1 TP53_g.13331_13345del NM_000546:g.13331_13345del IARC TP53 deletion exon 1 TP53_g.12509G>T NM_000546:g.12509G>T IARC TP53 substitution exon 1 TP53_g.12505_12542del NM_000546:g.12505_12542del IARC TP53 deletion exon 1 TP53_g.13794del NM_000546:g.13794del IARC TP53 deletion exon 1 TP53_g.12416T>A NM_000546:g.12416T>A IARC TP53 substitution exon 1 TP53_g.13379del NM_000546:g.13379del IARC TP53 deletion exon 1 TP53_g.11600_11601ins1 NM_000546:g.11600_11601ins1 IARC TP53 insertion exon 1 TP53_g.11415_11434del NM_000546:g.11415_11434del IARC TP53 deletion exon 1 TP53_g.16906_16913del NM_000546:g.16906_16913del IARC TP53 deletion exon 1 TP53_g.11607_11608ins1 NM_000546:g.11607_11608ins1 IARC TP53 insertion intron 1 TP53_g.11378_11379ins1 NM_000546:g.11378_11379ins1 IARC TP53 insertion exon 1 TP53_g.14009_14013del NM_000546:g.14009_14013del IARC TP53 deletion exon 1 TP53_g.16897G>T NM_000546:g.16897G>T IARC TP53 substitution exon 1 TP53_g.13860G>A NM_000546:g.13860G>A IARC TP53 substitution exon 1 TP53_g.12471C>T NM_000546:g.12471C>T IARC TP53 substitution exon 1 TP53_g.12711_12712ins3 NM_000546:g.12711_12712ins3 IARC TP53 insertion exon 1 TP53_g.30001_30002ins1 NM_000546:g.30001_30002ins1 IARC TP53 insertion intron 1 TP53_g.12450C>T NM_000546:g.12450C>T IARC TP53 substitution exon 1 TP53_g.13859G>C NM_000546:g.13859G>C IARC TP53 substitution exon 1 TP53_g.12448G>A NM_000546:g.12448G>A IARC TP53 substitution exon 1 TP53_g.13345C>T NM_000546:g.13345C>T IARC TP53 substitution exon 1 TP53_g.13415delinsGC NM_000546:g.13415delinsGC IARC TP53 complex exon 1 TP53_g.12468G>A NM_000546:g.12468G>A IARC TP53 substitution exon 1 TP53_g.14065G>T NM_000546:g.14065G>T IARC TP53 substitution exon 1 TP53_g.12476del NM_000546:g.12476del IARC TP53 deletion exon 1 TP53_g.13846_13847del NM_000546:g.13846_13847del IARC TP53 deletion exon 1 TP53_g.13355A>T NM_000546:g.13355A>T IARC TP53 substitution exon 1 TP53_g.12524A>C NM_000546:g.12524A>C IARC TP53 substitution exon 1 TP53_g.12696_12701delinsCCCACACGCA NM_000546:g.12696_12701delinsCCCACACGCA IARC TP53 complex exon 1 TP53_g.16963G>A NM_000546:g.16963G>A IARC TP53 substitution exon 1 TP53_g.14035del NM_000546:g.14035del IARC TP53 deletion exon 1 TP53_g.11447_11453del NM_000546:g.11447_11453del IARC TP53 deletion exon 1 TP53_g.13850C>A NM_000546:g.13850C>A IARC TP53 substitution exon 1 TP53_g.11437C>G NM_000546:g.11437C>G IARC TP53 substitution exon 1 TP53_g.13337T>A NM_000546:g.13337T>A IARC TP53 substitution exon 1 TP53_g.11410C>T NM_000546:g.11410C>T IARC TP53 substitution exon 1 TP53_g.13880C>A NM_000546:g.13880C>A IARC TP53 substitution exon 1 TP53_g.14022A>C NM_000546:g.14022A>C IARC TP53 substitution exon 1 TP53_g.13877G>C NM_000546:g.13877G>C IARC TP53 substitution exon 1 TP53_g.12741G>T NM_000546:g.12741G>T IARC TP53 substitution exon 1 TP53_g.12732G>C NM_000546:g.12732G>C IARC TP53 substitution exon 1 TP53_g.13314G>A NM_000546:g.13314G>A IARC TP53 substitution exon 1 TP53_g.12722T>A NM_000546:g.12722T>A IARC TP53 substitution exon 1 TP53_g.12411C>A NM_000546:g.12411C>A IARC TP53 substitution exon 1 TP53_g.13321C>T NM_000546:g.13321C>T IARC TP53 substitution exon 1 TP53_g.13322_13336del NM_000546:g.13322_13336del IARC TP53 deletion exon 1 TP53_g.13900G>C NM_000546:g.13900G>C IARC TP53 substitution intron 1 TP53_g.12508A>G NM_000546:g.12508A>G IARC TP53 substitution exon 1 TP53_g.13803_13812del NM_000546:g.13803_13812del IARC TP53 deletion exon 1 TP53_g.12514_12523del NM_000546:g.12514_12523del IARC TP53 deletion exon 1 TP53_g.13786G>C NM_000546:g.13786G>C IARC TP53 substitution exon 1 TP53_g.13376A>G NM_000546:g.13376A>G IARC TP53 substitution exon 1 TP53_g.13408del NM_000546:g.13408del IARC TP53 deletion exon 1 TP53_g.11400_11416del NM_000546:g.11400_11416del IARC TP53 deletion exon 1 TP53_g.14042_14043delinsAG NM_000546:g.14042_14043delinsAG IARC TP53 complex exon 1 TP53_g.11201del NM_000546:g.11201del IARC TP53 deletion exon 1 TP53_g.12472_12477del NM_000546:g.12472_12477del IARC TP53 deletion exon 1 TP53_g.13808_13809ins1 NM_000546:g.13808_13809ins1 IARC TP53 insertion exon 1 TP53_g.12456del NM_000546:g.12456del IARC TP53 deletion exon 1 TP53_g.13360_13364del NM_000546:g.13360_13364del IARC TP53 deletion exon 1 TP53_g.12462del NM_000546:g.12462del IARC TP53 deletion exon 1 TP53_g.13393del NM_000546:g.13393del IARC TP53 deletion exon 1 TP53_g.13839_13852del NM_000546:g.13839_13852del IARC TP53 deletion exon 1 TP53_g.13785_13788del NM_000546:g.13785_13788del IARC TP53 deletion exon 1 TP53_g.13316_13317del NM_000546:g.13316_13317del IARC TP53 deletion exon 1 TP53_g.13328_13329del NM_000546:g.13328_13329del IARC TP53 deletion exon 1 TP53_g.11565_11571del NM_000546:g.11565_11571del IARC TP53 deletion exon 1 TP53_g.11589del NM_000546:g.11589del IARC TP53 deletion exon 1 TP53_g.13388A>T NM_000546:g.13388A>T IARC TP53 substitution exon 1 TP53_g.12376C>A NM_000546:g.12376C>A IARC TP53 substitution exon 1 TP53_g.13765del NM_000546:g.13765del IARC TP53 deletion exon 1 TP53_g.13352del NM_000546:g.13352del IARC TP53 deletion exon 1 TP53_g.12682del NM_000546:g.12682del IARC TP53 deletion exon 1 TP53_g.12710A>C NM_000546:g.12710A>C IARC TP53 substitution exon 1 TP53_g.13879C>T NM_000546:g.13879C>T IARC TP53 substitution exon 1 TP53_g.12483G>A NM_000546:g.12483G>A IARC TP53 substitution exon 1 TP53_g.12684T>A NM_000546:g.12684T>A IARC TP53 substitution exon 1 TP53_g.12651T>C NM_000546:g.12651T>C IARC TP53 substitution exon 1 TP53_g.12411_12412ins6 NM_000546:g.12411_12412ins6 IARC TP53 insertion exon 1 TP53_g.13888G>A NM_000546:g.13888G>A IARC TP53 substitution exon 1 TP53_g.13874G>A NM_000546:g.13874G>A IARC TP53 substitution exon 1 TP53_g.12560G>A NM_000546:g.12560G>A IARC TP53 substitution intron 1 TP53_g.12457_12461del NM_000546:g.12457_12461del IARC TP53 deletion exon 1 TP53_g.13408G>A NM_000546:g.13408G>A IARC TP53 substitution exon 1 TP53_g.13811T>C NM_000546:g.13811T>C IARC TP53 substitution exon 1 TP53_g.11347C>T NM_000546:g.11347C>T IARC TP53 substitution exon 1 TP53_g.12672G>T NM_000546:g.12672G>T IARC TP53 substitution exon 1 TP53_g.12423_12424ins1 NM_000546:g.12423_12424ins1 IARC TP53 insertion exon 1 TP53_g.11328T>A NM_000546:g.11328T>A IARC TP53 substitution exon 1 TP53_g.16945G>C NM_000546:g.16945G>C IARC TP53 substitution exon 1 TP53_g.12676G>T NM_000546:g.12676G>T IARC TP53 substitution exon 1 TP53_g.12439_12440delinsAT NM_000546:g.12439_12440delinsAT IARC TP53 complex exon 1 TP53_g.13765G>T NM_000546:g.13765G>T IARC TP53 substitution exon 1 TP53_g.12475del NM_000546:g.12475del IARC TP53 deletion exon 1 TP53_g.12688_12717del NM_000546:g.12688_12717del IARC TP53 deletion exon 1 TP53_g.12475_12485del NM_000546:g.12475_12485del IARC TP53 deletion exon 1 TP53_g.11388T>G NM_000546:g.11388T>G IARC TP53 substitution exon 1 TP53_g.12391_12425del NM_000546:g.12391_12425del IARC TP53 deletion exon 1 TP53_g.13319G>C NM_000546:g.13319G>C IARC TP53 substitution exon 1 TP53_g.11512C>T NM_000546:g.11512C>T IARC TP53 substitution exon 1 TP53_g.11520G>T NM_000546:g.11520G>T IARC TP53 substitution exon 1 TP53_g.13779C>G NM_000546:g.13779C>G IARC TP53 substitution exon 1 TP53_g.13806G>A NM_000546:g.13806G>A IARC TP53 substitution exon 1 TP53_g.12391T>G NM_000546:g.12391T>G IARC TP53 substitution exon 1 TP53_g.12400G>A NM_000546:g.12400G>A IARC TP53 substitution exon 1 TP53_g.12406A>C NM_000546:g.12406A>C IARC TP53 substitution exon 1 TP53_g.13926G>C NM_000546:g.13926G>C IARC TP53 substitution intron 1 TP53_g.30016_30018del NM_000546:g.30016_30018del IARC TP53 deletion exon 1 TP53_g.12534C>T NM_000546:g.12534C>T IARC TP53 substitution exon 1 TP53_g.13917G>C NM_000546:g.13917G>C IARC TP53 substitution intron 1 TP53_g.30016_30017del NM_000546:g.30016_30017del IARC TP53 deletion exon 1 TP53_g.30017_30018ins2 NM_000546:g.30017_30018ins2 IARC TP53 insertion exon 1 TP53_g.12489G>T NM_000546:g.12489G>T IARC TP53 substitution exon 1 TP53_g.11056A>T NM_000546:g.11056A>T IARC TP53 substitution exon 1 TP53_g.11077A>T NM_000546:g.11077A>T IARC TP53 substitution exon 1 TP53_g.13384_13385ins3 NM_000546:g.13384_13385ins3 IARC TP53 insertion exon 1 TP53_g.12643_12645del NM_000546:g.12643_12645del IARC TP53 deletion exon 1 TP53_g.14008C>A NM_000546:g.14008C>A IARC TP53 substitution exon 1 TP53_g.12387G>T NM_000546:g.12387G>T IARC TP53 substitution exon 1 TP53_g.12735G>T NM_000546:g.12735G>T IARC TP53 substitution exon 1 TP53_g.13843A>C NM_000546:g.13843A>C IARC TP53 substitution exon 1 TP53_g.13774T>A NM_000546:g.13774T>A IARC TP53 substitution exon 1 TP53_g.13866C>G NM_000546:g.13866C>G IARC TP53 substitution exon 1 TP53_g.13322T>A NM_000546:g.13322T>A IARC TP53 substitution exon 1 TP53_g.13340A>T NM_000546:g.13340A>T IARC TP53 substitution exon 1 TP53_g.11500C>T NM_000546:g.11500C>T IARC TP53 substitution exon 1 TP53_g.11564G>A NM_000546:g.11564G>A IARC TP53 substitution exon 1 TP53_g.11588C>T NM_000546:g.11588C>T IARC TP53 substitution exon 1 TP53_g.12386T>C NM_000546:g.12386T>C IARC TP53 substitution exon 1 TP53_g.12409T>C NM_000546:g.12409T>C IARC TP53 substitution exon 1 TP53_g.12675T>C NM_000546:g.12675T>C IARC TP53 substitution exon 1 TP53_g.14049A>G NM_000546:g.14049A>G IARC TP53 substitution exon 1 TP53_g.11339G>T NM_000546:g.11339G>T IARC TP53 substitution exon 1 TP53_g.11434A>G NM_000546:g.11434A>G IARC TP53 substitution exon 1 TP53_g.11582G>T NM_000546:g.11582G>T IARC TP53 substitution exon 1 TP53_g.12423G>T NM_000546:g.12423G>T IARC TP53 substitution exon 1 TP53_g.12456C>A NM_000546:g.12456C>A IARC TP53 substitution exon 1 TP53_g.12713_12714delinsAA NM_000546:g.12713_12714delinsAA IARC TP53 complex exon 1 TP53_g.14046G>A NM_000546:g.14046G>A IARC TP53 substitution exon 1 TP53_g.11565G>A NM_000546:g.11565G>A IARC TP53 substitution exon 1 TP53_g.12500A>G NM_000546:g.12500A>G IARC TP53 substitution exon 1 TP53_g.13996G>A NM_000546:g.13996G>A IARC TP53 substitution exon 1 TP53_g.11419C>T NM_000546:g.11419C>T IARC TP53 substitution exon 1 TP53_g.11542A>T NM_000546:g.11542A>T IARC TP53 substitution exon 1 TP53_g.14034A>G NM_000546:g.14034A>G IARC TP53 substitution exon 1 TP53_g.11574C>T NM_000546:g.11574C>T IARC TP53 substitution exon 1 TP53_g.12704T>C NM_000546:g.12704T>C IARC TP53 substitution exon 1 TP53_g.14054T>C NM_000546:g.14054T>C IARC TP53 substitution exon 1 TP53_g.11364C>T NM_000546:g.11364C>T IARC TP53 substitution exon 1 TP53_g.11579T>C NM_000546:g.11579T>C IARC TP53 substitution exon 1 TP53_g.12641C>G NM_000546:g.12641C>G IARC TP53 substitution exon 1 TP53_g.12409T>A NM_000546:g.12409T>A IARC TP53 substitution exon 1 TP53_g.13887A>T NM_000546:g.13887A>T IARC TP53 substitution exon 1 TP53_g.13341A>C NM_000546:g.13341A>C IARC TP53 substitution exon 1 TP53_g.12445_12461del NM_000546:g.12445_12461del IARC TP53 deletion exon 1 TP53_g.12732G>T NM_000546:g.12732G>T IARC TP53 substitution exon 1 TP53_g.13785_13792del NM_000546:g.13785_13792del IARC TP53 deletion exon 1 TP53_g.12467T>A NM_000546:g.12467T>A IARC TP53 substitution exon 1 TP53_g.13842A>G NM_000546:g.13842A>G IARC TP53 substitution exon 1 TP53_g.13770C>T NM_000546:g.13770C>T IARC TP53 substitution exon 1 TP53_g.12462C>A NM_000546:g.12462C>A IARC TP53 substitution exon 1 TP53_g.12695G>T NM_000546:g.12695G>T IARC TP53 substitution exon 1 TP53_g.13371_13372delinsTA NM_000546:g.13371_13372delinsTA IARC TP53 complex exon 1 TP53_g.13384_13385delinsTG NM_000546:g.13384_13385delinsTG IARC TP53 complex exon 1 TP53_g.13383_13384delinsTT NM_000546:g.13383_13384delinsTT IARC TP53 complex exon 1 TP53_g.12454_12463del NM_000546:g.12454_12463del IARC TP53 deletion exon 1 TP53_g.12490_12491delinsGT NM_000546:g.12490_12491delinsGT IARC TP53 complex exon 1 TP53_g.11539_11565del NM_000546:g.11539_11565del IARC TP53 deletion exon 1 TP53_g.13376_13381del NM_000546:g.13376_13381del IARC TP53 deletion exon 1 TP53_g.13415del NM_000546:g.13415del IARC TP53 deletion exon 1 TP53_g.12437C>A NM_000546:g.12437C>A IARC TP53 substitution exon 1 TP53_g.13367del NM_000546:g.13367del IARC TP53 deletion exon 1 TP53_g.12731A>G NM_000546:g.12731A>G IARC TP53 substitution exon 1 TP53_g.13367G>C NM_000546:g.13367G>C IARC TP53 substitution exon 1 TP53_g.13397del NM_000546:g.13397del IARC TP53 deletion exon 1 TP53_g.13349del NM_000546:g.13349del IARC TP53 deletion exon 1 TP53_g.11460C>G NM_000546:g.11460C>G IARC TP53 substitution exon 1 TP53_g.12535T>C NM_000546:g.12535T>C IARC TP53 substitution exon 1 TP53_g.12638_12639ins1 NM_000546:g.12638_12639ins1 IARC TP53 insertion exon 1 TP53_g.12420G>C NM_000546:g.12420G>C IARC TP53 substitution exon 1 TP53_g.12735G>C NM_000546:g.12735G>C IARC TP53 substitution exon 1 TP53_g.13884del NM_000546:g.13884del IARC TP53 deletion exon 1 TP53_g.13706A>G NM_000546:g.13706A>G IARC TP53 substitution intron 1 TP53_g.12418del NM_000546:g.12418del IARC TP53 deletion exon 1 TP53_g.12558G>T NM_000546:g.12558G>T IARC TP53 substitution intron 1 TP53_g.12484T>G NM_000546:g.12484T>G IARC TP53 substitution exon 1 TP53_g.12584T>G NM_000546:g.12584T>G IARC TP53 substitution intron 1 TP53_g.12656G>T NM_000546:g.12656G>T IARC TP53 substitution exon 1 TP53_g.13795T>G NM_000546:g.13795T>G IARC TP53 substitution exon 1 TP53_g.11390G>C NM_000546:g.11390G>C IARC TP53 substitution exon 1 TP53_g.13781G>A NM_000546:g.13781G>A IARC TP53 substitution exon 1 TP53_g.11397G>A NM_000546:g.11397G>A IARC TP53 substitution exon 1 TP53_g.12405G>A NM_000546:g.12405G>A IARC TP53 substitution exon 1 TP53_g.14025C>T NM_000546:g.14025C>T IARC TP53 substitution exon 1 TP53_g.12408C>T NM_000546:g.12408C>T IARC TP53 substitution exon 1 TP53_g.12419A>T NM_000546:g.12419A>T IARC TP53 substitution exon 1 TP53_g.30014_30015ins42 NM_000546:g.30014_30015ins42 IARC TP53 insertion exon 1 TP53_g.12514_12532del NM_000546:g.12514_12532del IARC TP53 deletion exon 1 TP53_g.13820A>G NM_000546:g.13820A>G IARC TP53 substitution exon 1 TP53_g.12485_12486ins1 NM_000546:g.12485_12486ins1 IARC TP53 insertion exon 1 TP53_g.11563T>C NM_000546:g.11563T>C IARC TP53 substitution exon 1 TP53_g.12472_12473ins1 NM_000546:g.12472_12473ins1 IARC TP53 insertion exon 1 TP53_g.12367T>C NM_000546:g.12367T>C IARC TP53 substitution exon 1 TP53_g.12650_12651del NM_000546:g.12650_12651del IARC TP53 deletion exon 1 TP53_g.13395_13396ins1 NM_000546:g.13395_13396ins1 IARC TP53 insertion exon 1 TP53_g.13370del NM_000546:g.13370del IARC TP53 deletion exon 1 TP53_g.12631del NM_000546:g.12631del IARC TP53 deletion exon 1 TP53_g.13324T>C NM_000546:g.13324T>C IARC TP53 substitution exon 1 TP53_g.12667A>G NM_000546:g.12667A>G IARC TP53 substitution exon 1 TP53_g.13824_13825delinsTA NM_000546:g.13824_13825delinsTA IARC TP53 complex exon 1 TP53_g.12456_12457ins6 NM_000546:g.12456_12457ins6 IARC TP53 insertion exon 1 TP53_g.12691_12706del NM_000546:g.12691_12706del IARC TP53 deletion exon 1 TP53_g.13829_13830ins2 NM_000546:g.13829_13830ins2 IARC TP53 insertion exon 1 TP53_g.12524del NM_000546:g.12524del IARC TP53 deletion exon 1 TP53_g.13325_13326ins1 NM_000546:g.13325_13326ins1 IARC TP53 insertion exon 1 TP53_g.13805T>A NM_000546:g.13805T>A IARC TP53 substitution exon 1 TP53_g.16966del NM_000546:g.16966del IARC TP53 deletion exon 1 TP53_g.13373del NM_000546:g.13373del IARC TP53 deletion exon 1 TP53_g.12672_12673ins1 NM_000546:g.12672_12673ins1 IARC TP53 insertion exon 1 TP53_g.12473T>A NM_000546:g.12473T>A IARC TP53 substitution exon 1 TP53_g.12733_12741del NM_000546:g.12733_12741del IARC TP53 deletion exon 1 TP53_g.12433T>A NM_000546:g.12433T>A IARC TP53 substitution exon 1 TP53_g.12679_12699del NM_000546:g.12679_12699del IARC TP53 deletion exon 1 TP53_g.12368C>A NM_000546:g.12368C>A IARC TP53 substitution exon 1 TP53_g.13846T>C NM_000546:g.13846T>C IARC TP53 substitution exon 1 TP53_g.13418A>G NM_000546:g.13418A>G IARC TP53 substitution exon 1 TP53_g.12455G>A NM_000546:g.12455G>A IARC TP53 substitution exon 1 TP53_g.13785A>G NM_000546:g.13785A>G IARC TP53 substitution exon 1 TP53_g.12391del NM_000546:g.12391del IARC TP53 deletion exon 1 TP53_g.13814del NM_000546:g.13814del IARC TP53 deletion exon 1 TP53_g.12718_12731del NM_000546:g.12718_12731del IARC TP53 deletion exon 1 TP53_g.13331_13336del NM_000546:g.13331_13336del IARC TP53 deletion exon 1 TP53_g.13352_13362del NM_000546:g.13352_13362del IARC TP53 deletion exon 1 TP53_g.13836G>C NM_000546:g.13836G>C IARC TP53 substitution exon 1 TP53_g.12715G>C NM_000546:g.12715G>C IARC TP53 substitution exon 1 TP53_g.12484T>A NM_000546:g.12484T>A IARC TP53 substitution exon 1 TP53_g.12648T>C NM_000546:g.12648T>C IARC TP53 substitution exon 1 TP53_g.12466A>C NM_000546:g.12466A>C IARC TP53 substitution exon 1 TP53_g.12705T>A NM_000546:g.12705T>A IARC TP53 substitution exon 1 TP53_g.12660G>A NM_000546:g.12660G>A IARC TP53 substitution exon 1 TP53_g.13364A>G NM_000546:g.13364A>G IARC TP53 substitution exon 1 TP53_g.12482A>C NM_000546:g.12482A>C IARC TP53 substitution exon 1 TP53_g.13396C>T NM_000546:g.13396C>T IARC TP53 substitution exon 1 TP53_g.12718_12720delinsATA NM_000546:g.12718_12720delinsATA IARC TP53 complex exon 1 TP53_g.11368_11369del NM_000546:g.11368_11369del IARC TP53 deletion exon 1 TP53_g.12540_12541del NM_000546:g.12540_12541del IARC TP53 deletion exon 1 TP53_g.12490_12496del NM_000546:g.12490_12496del IARC TP53 deletion exon 1 TP53_g.12513_12514delinsTA NM_000546:g.12513_12514delinsTA IARC TP53 complex exon 1 TP53_g.12381_12382ins2 NM_000546:g.12381_12382ins2 IARC TP53 insertion exon 1 TP53_g.13342_13343ins1 NM_000546:g.13342_13343ins1 IARC TP53 insertion exon 1 TP53_g.13931G>A NM_000546:g.13931G>A IARC TP53 substitution intron 1 TP53_g.13824C>A NM_000546:g.13824C>A IARC TP53 substitution exon 1 TP53_g.13897G>C NM_000546:g.13897G>C IARC TP53 substitution exon 1 TP53_g.13857G>C NM_000546:g.13857G>C IARC TP53 substitution exon 1 TP53_g.12488A>T NM_000546:g.12488A>T IARC TP53 substitution exon 1 TP53_g.12431A>C NM_000546:g.12431A>C IARC TP53 substitution exon 1 TP53_g.12450_12451ins2 NM_000546:g.12450_12451ins2 IARC TP53 insertion exon 1 TP53_g.13385C>A NM_000546:g.13385C>A IARC TP53 substitution exon 1 TP53_g.11475_11482del NM_000546:g.11475_11482del IARC TP53 deletion exon 1 TP53_g.12379A>T NM_000546:g.12379A>T IARC TP53 substitution exon 1 TP53_g.11398A>T NM_000546:g.11398A>T IARC TP53 substitution exon 1 TP53_g.11451_11461del NM_000546:g.11451_11461del IARC TP53 deletion exon 1 TP53_g.11585A>G NM_000546:g.11585A>G IARC TP53 substitution exon 1 TP53_g.12549T>G NM_000546:g.12549T>G IARC TP53 substitution intron 1 TP53_g.12551A>T NM_000546:g.12551A>T IARC TP53 substitution intron 1 TP53_g.12540T>C NM_000546:g.12540T>C IARC TP53 substitution exon 1 TP53_g.12496A>C NM_000546:g.12496A>C IARC TP53 substitution exon 1 TP53_g.12492C>T NM_000546:g.12492C>T IARC TP53 substitution exon 1 TP53_g.16913T>G NM_000546:g.16913T>G IARC TP53 substitution exon 1 TP53_g.13361del NM_000546:g.13361del IARC TP53 deletion exon 1 TP53_g.13764_13766del NM_000546:g.13764_13766del IARC TP53 deletion exon 1 TP53_g.16970G>T NM_000546:g.16970G>T IARC TP53 substitution exon 1 TP53_g.13405_13406ins1 NM_000546:g.13405_13406ins1 IARC TP53 insertion exon 1 TP53_g.12388T>A NM_000546:g.12388T>A IARC TP53 substitution exon 1 TP53_g.13767del NM_000546:g.13767del IARC TP53 deletion exon 1 TP53_g.13899del NM_000546:g.13899del IARC TP53 deletion exon 1 TP53_g.13418del NM_000546:g.13418del IARC TP53 deletion exon 1 TP53_g.13421_13430del NM_000546:g.13421_13430del IARC TP53 deletion intron 1 TP53_g.12454_12455del NM_000546:g.12454_12455del IARC TP53 deletion exon 1 TP53_g.13370_13371delinsCT NM_000546:g.13370_13371delinsCT IARC TP53 complex exon 1 TP53_g.12672G>A NM_000546:g.12672G>A IARC TP53 substitution exon 1 TP53_g.12478_12484del NM_000546:g.12478_12484del IARC TP53 deletion exon 1 TP53_g.13399_13400ins1 NM_000546:g.13399_13400ins1 IARC TP53 insertion exon 1 TP53_g.12697_12703del NM_000546:g.12697_12703del IARC TP53 deletion exon 1 TP53_g.12675_12676ins2 NM_000546:g.12675_12676ins2 IARC TP53 insertion exon 1 TP53_g.13384_13385ins5 NM_000546:g.13384_13385ins5 IARC TP53 insertion exon 1 TP53_g.13334_13339del NM_000546:g.13334_13339del IARC TP53 deletion exon 1 TP53_g.12436_12448del NM_000546:g.12436_12448del IARC TP53 deletion exon 1 TP53_g.13375_13376ins1 NM_000546:g.13375_13376ins1 IARC TP53 insertion exon 1 TP53_g.12498_12499ins2 NM_000546:g.12498_12499ins2 IARC TP53 insertion exon 1 TP53_g.13796_13797ins1 NM_000546:g.13796_13797ins1 IARC TP53 insertion exon 1 TP53_g.13848_13852del NM_000546:g.13848_13852del IARC TP53 deletion exon 1 TP53_g.12689A>G NM_000546:g.12689A>G IARC TP53 substitution exon 1 TP53_g.12523del NM_000546:g.12523del IARC TP53 deletion exon 1 TP53_g.13823_13824ins6 NM_000546:g.13823_13824ins6 IARC TP53 insertion exon 1 TP53_g.12698A>T NM_000546:g.12698A>T IARC TP53 substitution exon 1 TP53_g.12663A>T NM_000546:g.12663A>T IARC TP53 substitution exon 1 TP53_g.13797_13798del NM_000546:g.13797_13798del IARC TP53 deletion exon 1 TP53_g.13832A>T NM_000546:g.13832A>T IARC TP53 substitution exon 1 TP53_g.13317C>T NM_000546:g.13317C>T IARC TP53 substitution exon 1 TP53_g.12691G>T NM_000546:g.12691G>T IARC TP53 substitution exon 1 TP53_g.12468G>C NM_000546:g.12468G>C IARC TP53 substitution exon 1 TP53_g.13319G>A NM_000546:g.13319G>A IARC TP53 substitution exon 1 TP53_g.12420G>A NM_000546:g.12420G>A IARC TP53 substitution exon 1 TP53_g.12701C>A NM_000546:g.12701C>A IARC TP53 substitution exon 1 TP53_g.13403A>T NM_000546:g.13403A>T IARC TP53 substitution exon 1 TP53_g.13866_13889del NM_000546:g.13866_13889del IARC TP53 deletion exon 1 TP53_g.12433T>C NM_000546:g.12433T>C IARC TP53 substitution exon 1 TP53_g.13797_13800del NM_000546:g.13797_13800del IARC TP53 deletion exon 1 TP53_g.13890A>G NM_000546:g.13890A>G IARC TP53 substitution exon 1 TP53_g.13854A>C NM_000546:g.13854A>C IARC TP53 substitution exon 1 TP53_g.13790T>A NM_000546:g.13790T>A IARC TP53 substitution exon 1 TP53_g.11476C>T NM_000546:g.11476C>T IARC TP53 substitution exon 1 TP53_g.13779_13787del NM_000546:g.13779_13787del IARC TP53 deletion exon 1 TP53_g.12721G>T NM_000546:g.12721G>T IARC TP53 substitution exon 1 TP53_g.13331del NM_000546:g.13331del IARC TP53 deletion exon 1 TP53_g.12702del NM_000546:g.12702del IARC TP53 deletion exon 1 TP53_g.12470del NM_000546:g.12470del IARC TP53 deletion exon 1 TP53_g.13901T>A NM_000546:g.13901T>A IARC TP53 substitution intron 1 TP53_g.12378C>G NM_000546:g.12378C>G IARC TP53 substitution exon 1 TP53_g.12437C>T NM_000546:g.12437C>T IARC TP53 substitution exon 1 TP53_g.12430G>T NM_000546:g.12430G>T IARC TP53 substitution exon 1 TP53_g.12367del NM_000546:g.12367del IARC TP53 deletion exon 1 TP53_g.12434C>T NM_000546:g.12434C>T IARC TP53 substitution exon 1 TP53_g.13833G>T NM_000546:g.13833G>T IARC TP53 substitution exon 1 TP53_g.13325_13335del NM_000546:g.13325_13335del IARC TP53 deletion exon 1 TP53_g.13394_13397del NM_000546:g.13394_13397del IARC TP53 deletion exon 1 TP53_g.13388_13396del NM_000546:g.13388_13396del IARC TP53 deletion exon 1 TP53_g.13414C>A NM_000546:g.13414C>A IARC TP53 substitution exon 1 TP53_g.13409_13415del NM_000546:g.13409_13415del IARC TP53 deletion exon 1 TP53_g.12737C>A NM_000546:g.12737C>A IARC TP53 substitution exon 1 TP53_g.12487_12489del NM_000546:g.12487_12489del IARC TP53 deletion exon 1 TP53_g.12469del NM_000546:g.12469del IARC TP53 deletion exon 1 TP53_g.12513C>G NM_000546:g.12513C>G IARC TP53 substitution exon 1 TP53_g.12415_12446del NM_000546:g.12415_12446del IARC TP53 deletion exon 1 TP53_g.12679_12703del NM_000546:g.12679_12703del IARC TP53 deletion exon 1 TP53_g.11436del NM_000546:g.11436del IARC TP53 deletion exon 1 TP53_g.11391_11403del NM_000546:g.11391_11403del IARC TP53 deletion exon 1 TP53_g.11547_11561del NM_000546:g.11547_11561del IARC TP53 deletion exon 1 TP53_g.12711_12712ins1 NM_000546:g.12711_12712ins1 IARC TP53 insertion exon 1 TP53_g.13315C>T NM_000546:g.13315C>T IARC TP53 substitution exon 1 TP53_g.12720G>A NM_000546:g.12720G>A IARC TP53 substitution exon 1 TP53_g.12723G>A NM_000546:g.12723G>A IARC TP53 substitution exon 1 TP53_g.12714T>C NM_000546:g.12714T>C IARC TP53 substitution exon 1 TP53_g.11484C>T NM_000546:g.11484C>T IARC TP53 substitution exon 1 TP53_g.11496C>T NM_000546:g.11496C>T IARC TP53 substitution exon 1 TP53_g.11533A>G NM_000546:g.11533A>G IARC TP53 substitution exon 1 TP53_g.12382_12383delinsTG NM_000546:g.12382_12383delinsTG IARC TP53 complex exon 1 TP53_g.11368C>T NM_000546:g.11368C>T IARC TP53 substitution exon 1 TP53_g.11595G>T NM_000546:g.11595G>T IARC TP53 substitution exon 1 TP53_g.11540C>T NM_000546:g.11540C>T IARC TP53 substitution exon 1 TP53_g.13835G>A NM_000546:g.13835G>A IARC TP53 substitution exon 1 TP53_g.13857G>A NM_000546:g.13857G>A IARC TP53 substitution exon 1 TP53_g.11546C>T NM_000546:g.11546C>T IARC TP53 substitution exon 1 TP53_g.11554G>A NM_000546:g.11554G>A IARC TP53 substitution exon 1 TP53_g.12733C>T NM_000546:g.12733C>T IARC TP53 substitution exon 1 TP53_g.13765G>A NM_000546:g.13765G>A IARC TP53 substitution exon 1 TP53_g.13802T>C NM_000546:g.13802T>C IARC TP53 substitution exon 1 TP53_g.13821_13823delinsCGG NM_000546:g.13821_13823delinsCGG IARC TP53 complex exon 1 TP53_g.16980G>A NM_000546:g.16980G>A IARC TP53 substitution exon 1 TP53_g.13315_13316ins1 NM_000546:g.13315_13316ins1 IARC TP53 insertion exon 1 TP53_g.13338A>T NM_000546:g.13338A>T IARC TP53 substitution exon 1 TP53_g.13343_13348del NM_000546:g.13343_13348del IARC TP53 deletion exon 1 TP53_g.12448_12454del NM_000546:g.12448_12454del IARC TP53 deletion exon 1 TP53_g.14066_14068delinsC NM_000546:g.14066_14068delinsC IARC TP53 complex intron 1 TP53_g.13827_13828del NM_000546:g.13827_13828del IARC TP53 deletion exon 1 TP53_g.12517_12533del NM_000546:g.12517_12533del IARC TP53 deletion exon 1 TP53_g.12533G>C NM_000546:g.12533G>C IARC TP53 substitution exon 1 TP53_g.12508_12534del NM_000546:g.12508_12534del IARC TP53 deletion exon 1 TP53_g.13357_13358del NM_000546:g.13357_13358del IARC TP53 deletion exon 1 TP53_g.13776_13784del NM_000546:g.13776_13784del IARC TP53 deletion exon 1 TP53_g.13340_13346del NM_000546:g.13340_13346del IARC TP53 deletion exon 1 TP53_g.12507_12508ins12 NM_000546:g.12507_12508ins12 IARC TP53 insertion exon 1 TP53_g.13352_13363del NM_000546:g.13352_13363del IARC TP53 deletion exon 1 TP53_g.13899_13911del NM_000546:g.13899_13911del IARC TP53 deletion exon 1 TP53_g.11569T>G NM_000546:g.11569T>G IARC TP53 substitution exon 1 TP53_g.11430del NM_000546:g.11430del IARC TP53 deletion exon 1 TP53_g.13400del NM_000546:g.13400del IARC TP53 deletion exon 1 TP53_g.13055_14754del NM_000546:g.13055_14754del IARC TP53 deletion not within known transcription unit 0 TP53_g.12712A>T NM_000546:g.12712A>T IARC TP53 substitution exon 1 TP53_g.12429del NM_000546:g.12429del IARC TP53 deletion exon 1 TP53_g.14452_14588del NM_000546:g.14452_14588del IARC TP53 deletion not within known transcription unit 0 TP53_g.12451_12471del NM_000546:g.12451_12471del IARC TP53 deletion exon 1 TP53_g.12475_12483del NM_000546:g.12475_12483del IARC TP53 deletion exon 1 TP53_g.13320_13432del NM_000546:g.13320_13432del IARC TP53 deletion not within known transcription unit 0 TP53_g.11484_11500del NM_000546:g.11484_11500del IARC TP53 deletion exon 1 TP53_g.11406_11605del NM_000546:g.11406_11605del IARC TP53 deletion exon 1 TP53_g.13841G>C NM_000546:g.13841G>C IARC TP53 substitution exon 1 TP53_g.12739G>A NM_000546:g.12739G>A IARC TP53 substitution exon 1 TP53_g.13764_13786del NM_000546:g.13764_13786del IARC TP53 deletion exon 1 TP53_g.13770C>A NM_000546:g.13770C>A IARC TP53 substitution exon 1 TP53_g.11447_11646del NM_000546:g.11447_11646del IARC TP53 deletion exon 1 TP53_g.16935G>T NM_000546:g.16935G>T IARC TP53 substitution exon 1 TP53_g.12495_12496ins3 NM_000546:g.12495_12496ins3 IARC TP53 insertion exon 1 TP53_g.11572T>A NM_000546:g.11572T>A IARC TP53 substitution exon 1 TP53_g.12444_12445ins1 NM_000546:g.12444_12445ins1 IARC TP53 insertion exon 1 TP53_g.16981G>A NM_000546:g.16981G>A IARC TP53 substitution exon 1 TP53_g.13310_13315del NM_000546:g.13310_13315del IARC TP53 deletion exon 1 TP53_g.11451del NM_000546:g.11451del IARC TP53 deletion exon 1 TP53_g.12451_12456del NM_000546:g.12451_12456del IARC TP53 deletion exon 1 TP53_g.11427_11434del NM_000546:g.11427_11434del IARC TP53 deletion exon 1 TP53_g.13403_13409del NM_000546:g.13403_13409del IARC TP53 deletion exon 1 TP53_g.16918G>T NM_000546:g.16918G>T IARC TP53 substitution exon 1 TP53_g.17572_17678del NM_000546:g.17572_17678del IARC TP53 deletion not within known transcription unit 0 TP53_g.11601T>C NM_000546:g.11601T>C IARC TP53 substitution exon 1 TP53_g.11441_11442ins4 NM_000546:g.11441_11442ins4 IARC TP53 insertion exon 1 TP53_g.12370del NM_000546:g.12370del IARC TP53 deletion exon 1 TP53_g.11382del NM_000546:g.11382del IARC TP53 deletion exon 1 TP53_g.12498G>A NM_000546:g.12498G>A IARC TP53 substitution exon 1 TP53_g.12436_12441del NM_000546:g.12436_12441del IARC TP53 deletion exon 1 TP53_g.11484_11497del NM_000546:g.11484_11497del IARC TP53 deletion exon 1 TP53_g.12653T>A NM_000546:g.12653T>A IARC TP53 substitution exon 1 TP53_g.14012_14030del NM_000546:g.14012_14030del IARC TP53 deletion exon 1 TP53_g.14681_14754del NM_000546:g.14681_14754del IARC TP53 deletion not within known transcription unit 0 TP53_g.13386_13387delinsTT NM_000546:g.13386_13387delinsTT IARC TP53 complex exon 1 TP53_g.12493del NM_000546:g.12493del IARC TP53 deletion exon 1 TP53_g.12532T>C NM_000546:g.12532T>C IARC TP53 substitution exon 1 TP53_g.12442C>A NM_000546:g.12442C>A IARC TP53 substitution exon 1 TP53_g.12469_12471delinsACT NM_000546:g.12469_12471delinsACT IARC TP53 complex exon 1 TP53_g.12379A>G NM_000546:g.12379A>G IARC TP53 substitution exon 1 TP53_g.13869_13871del NM_000546:g.13869_13871del IARC TP53 deletion exon 1 TP53_g.13322_13340del NM_000546:g.13322_13340del IARC TP53 deletion exon 1 TP53_g.13782_13785del NM_000546:g.13782_13785del IARC TP53 deletion exon 1 TP53_g.12339_12340ins1 NM_000546:g.12339_12340ins1 IARC TP53 insertion intron 1 TP53_g.13326del NM_000546:g.13326del IARC TP53 deletion exon 1 TP53_g.11198del NM_000546:g.11198del IARC TP53 deletion exon 1 TP53_g.12548G>T NM_000546:g.12548G>T IARC TP53 substitution intron 1 TP53_g.14067T>C NM_000546:g.14067T>C IARC TP53 substitution intron 1 TP53_g.12362A>T NM_000546:g.12362A>T IARC TP53 substitution intron 1 TP53_g.12545A>T NM_000546:g.12545A>T IARC TP53 substitution exon 1 TP53_g.12710del NM_000546:g.12710del IARC TP53 deletion exon 1 TP53_g.12645G>A NM_000546:g.12645G>A IARC TP53 substitution exon 1 TP53_g.13818A>C NM_000546:g.13818A>C IARC TP53 substitution exon 1 TP53_g.11363G>T NM_000546:g.11363G>T IARC TP53 substitution exon 1 TP53_g.13344A>C NM_000546:g.13344A>C IARC TP53 substitution exon 1 TP53_g.13365T>C NM_000546:g.13365T>C IARC TP53 substitution exon 1 TP53_g.13893A>G NM_000546:g.13893A>G IARC TP53 substitution exon 1 TP53_g.12481C>G NM_000546:g.12481C>G IARC TP53 substitution exon 1 TP53_g.12517_12518delinsAT NM_000546:g.12517_12518delinsAT IARC TP53 complex exon 1 TP53_g.13406del NM_000546:g.13406del IARC TP53 deletion exon 1 TP53_g.13766_13767ins5 NM_000546:g.13766_13767ins5 IARC TP53 insertion exon 1 TP53_g.13818del NM_000546:g.13818del IARC TP53 deletion exon 1 TP53_g.12517_12525del NM_000546:g.12517_12525del IARC TP53 deletion exon 1 TP53_g.13412_13413ins1 NM_000546:g.13412_13413ins1 IARC TP53 insertion exon 1 TP53_g.13892T>G NM_000546:g.13892T>G IARC TP53 substitution exon 1 TP53_g.12522C>T NM_000546:g.12522C>T IARC TP53 substitution exon 1 TP53_g.12497C>A NM_000546:g.12497C>A IARC TP53 substitution exon 1 TP53_g.12706C>G NM_000546:g.12706C>G IARC TP53 substitution exon 1 TP53_g.13837A>T NM_000546:g.13837A>T IARC TP53 substitution exon 1 TP53_g.12479A>G NM_000546:g.12479A>G IARC TP53 substitution exon 1 TP53_g.12421C>G NM_000546:g.12421C>G IARC TP53 substitution exon 1 TP53_g.13331A>G NM_000546:g.13331A>G IARC TP53 substitution exon 1 TP53_g.13860G>C NM_000546:g.13860G>C IARC TP53 substitution exon 1 TP53_g.12425G>T NM_000546:g.12425G>T IARC TP53 substitution exon 1 TP53_g.13407T>G NM_000546:g.13407T>G IARC TP53 substitution exon 1 TP53_g.11036G>A NM_000546:g.11036G>A IARC TP53 substitution exon 1 TP53_g.12548G>C NM_000546:g.12548G>C IARC TP53 substitution intron 1 TP53_g.13385_13391del NM_000546:g.13385_13391del IARC TP53 deletion exon 1 TP53_g.12666_12667ins1 NM_000546:g.12666_12667ins1 IARC TP53 insertion exon 1 TP53_g.11503G>A NM_000546:g.11503G>A IARC TP53 substitution exon 1 TP53_g.11446del NM_000546:g.11446del IARC TP53 deletion exon 1 TP53_g.13319_13320del NM_000546:g.13319_13320del IARC TP53 deletion exon 1 TP53_g.12720G>C NM_000546:g.12720G>C IARC TP53 substitution exon 1 TP53_g.13875del NM_000546:g.13875del IARC TP53 deletion exon 1 TP53_g.12539_12540del NM_000546:g.12539_12540del IARC TP53 deletion exon 1 TP53_g.12634G>A NM_000546:g.12634G>A IARC TP53 substitution exon 1 TP53_g.12716del NM_000546:g.12716del IARC TP53 deletion exon 1 TP53_g.13786G>A NM_000546:g.13786G>A IARC TP53 substitution exon 1 TP53_g.12470C>G NM_000546:g.12470C>G IARC TP53 substitution exon 1 TP53_g.11393_11394ins1 NM_000546:g.11393_11394ins1 IARC TP53 insertion exon 1 TP53_g.11390G>A NM_000546:g.11390G>A IARC TP53 substitution exon 1 TP53_g.13399del NM_000546:g.13399del IARC TP53 deletion exon 1 TP53_g.13816_13817delinsAA NM_000546:g.13816_13817delinsAA IARC TP53 complex exon 1 TP53_g.12490_12499del NM_000546:g.12490_12499del IARC TP53 deletion exon 1 TP53_g.12445_12449del NM_000546:g.12445_12449del IARC TP53 deletion exon 1 TP53_g.12724C>A NM_000546:g.12724C>A IARC TP53 substitution exon 1 TP53_g.12730G>A NM_000546:g.12730G>A IARC TP53 substitution exon 1 TP53_g.14009_14040del NM_000546:g.14009_14040del IARC TP53 deletion exon 1 TP53_g.13797_13805del NM_000546:g.13797_13805del IARC TP53 deletion exon 1 TP53_g.12715del NM_000546:g.12715del IARC TP53 deletion exon 1 TP53_g.13779del NM_000546:g.13779del IARC TP53 deletion exon 1 TP53_g.12686T>A NM_000546:g.12686T>A IARC TP53 substitution exon 1 TP53_g.13321C>A NM_000546:g.13321C>A IARC TP53 substitution exon 1 TP53_g.12547G>C NM_000546:g.12547G>C IARC TP53 substitution exon 1 TP53_g.13415_13416del NM_000546:g.13415_13416del IARC TP53 deletion exon 1 TP53_g.12403A>C NM_000546:g.12403A>C IARC TP53 substitution exon 1 TP53_g.11518C>T NM_000546:g.11518C>T IARC TP53 substitution exon 1 TP53_g.13372C>A NM_000546:g.13372C>A IARC TP53 substitution exon 1 TP53_g.13856_13857ins1 NM_000546:g.13856_13857ins1 IARC TP53 insertion exon 1 TP53_g.12740A>T NM_000546:g.12740A>T IARC TP53 substitution exon 1 TP53_g.12460_12466del NM_000546:g.12460_12466del IARC TP53 deletion exon 1 TP53_g.11547_11549del NM_000546:g.11547_11549del IARC TP53 deletion exon 1 TP53_g.12487C>A NM_000546:g.12487C>A IARC TP53 substitution exon 1 TP53_g.12500A>T NM_000546:g.12500A>T IARC TP53 substitution exon 1 TP53_g.13333C>A NM_000546:g.13333C>A IARC TP53 substitution exon 1 TP53_g.12726C>G NM_000546:g.12726C>G IARC TP53 substitution exon 1 TP53_g.13326C>A NM_000546:g.13326C>A IARC TP53 substitution exon 1 TP53_g.12687G>C NM_000546:g.12687G>C IARC TP53 substitution exon 1 TP53_g.13385_13393del NM_000546:g.13385_13393del IARC TP53 deletion exon 1 TP53_g.13882del NM_000546:g.13882del IARC TP53 deletion exon 1 TP53_g.13354C>G NM_000546:g.13354C>G IARC TP53 substitution exon 1 TP53_g.13790T>G NM_000546:g.13790T>G IARC TP53 substitution exon 1 TP53_g.12399G>T NM_000546:g.12399G>T IARC TP53 substitution exon 1 TP53_g.12423G>C NM_000546:g.12423G>C IARC TP53 substitution exon 1 TP53_g.12424T>C NM_000546:g.12424T>C IARC TP53 substitution exon 1 TP53_g.12637C>A NM_000546:g.12637C>A IARC TP53 substitution exon 1 TP53_g.13409_13410delinsTT NM_000546:g.13409_13410delinsTT IARC TP53 complex exon 1 TP53_g.11511del NM_000546:g.11511del IARC TP53 deletion exon 1 TP53_g.12390T>G NM_000546:g.12390T>G IARC TP53 substitution exon 1 TP53_g.13342_13343ins4 NM_000546:g.13342_13343ins4 IARC TP53 insertion exon 1 TP53_g.11552C>A NM_000546:g.11552C>A IARC TP53 substitution exon 1 TP53_g.30002del NM_000546:g.30002del IARC TP53 deletion intron 1 TP53_g.12403del NM_000546:g.12403del IARC TP53 deletion exon 1 TP53_g.13387_13388ins3 NM_000546:g.13387_13388ins3 IARC TP53 insertion exon 1 TP53_g.13364del NM_000546:g.13364del IARC TP53 deletion exon 1 TP53_g.13895G>T NM_000546:g.13895G>T IARC TP53 substitution exon 1 TP53_g.13803T>A NM_000546:g.13803T>A IARC TP53 substitution exon 1 TP53_g.13372C>G NM_000546:g.13372C>G IARC TP53 substitution exon 1 TP53_g.13767A>G NM_000546:g.13767A>G IARC TP53 substitution exon 1 TP53_g.13851A>C NM_000546:g.13851A>C IARC TP53 substitution exon 1 TP53_g.13885G>C NM_000546:g.13885G>C IARC TP53 substitution exon 1 TP53_g.13352A>T NM_000546:g.13352A>T IARC TP53 substitution exon 1 TP53_g.13826G>T NM_000546:g.13826G>T IARC TP53 substitution exon 1 TP53_g.13854_13855delinsGG NM_000546:g.13854_13855delinsGG IARC TP53 complex exon 1 TP53_g.13859G>T NM_000546:g.13859G>T IARC TP53 substitution exon 1 TP53_g.13872G>C NM_000546:g.13872G>C IARC TP53 substitution exon 1 TP53_g.13874G>T NM_000546:g.13874G>T IARC TP53 substitution exon 1 TP53_g.13837_13838delinsGT NM_000546:g.13837_13838delinsGT IARC TP53 complex exon 1 TP53_g.16951C>G NM_000546:g.16951C>G IARC TP53 substitution exon 1 TP53_g.13876T>A NM_000546:g.13876T>A IARC TP53 substitution exon 1 TP53_g.17988_17989ins20 NM_000546:g.17988_17989ins20 IARC TP53 insertion exon 1 TP53_g.11504_11505ins1 NM_000546:g.11504_11505ins1 IARC TP53 insertion exon 1 TP53_g.12364T>G NM_000546:g.12364T>G IARC TP53 substitution exon 1 TP53_g.13395C>A NM_000546:g.13395C>A IARC TP53 substitution exon 1 TP53_g.13309_13310ins4 NM_000546:g.13309_13310ins4 IARC TP53 insertion exon 1 TP53_g.13352A>C NM_000546:g.13352A>C IARC TP53 substitution exon 1 TP53_g.13386C>A NM_000546:g.13386C>A IARC TP53 substitution exon 1 TP53_g.13394A>G NM_000546:g.13394A>G IARC TP53 substitution exon 1 TP53_g.12549T>C NM_000546:g.12549T>C IARC TP53 substitution intron 1 TP53_g.12370_12406del NM_000546:g.12370_12406del IARC TP53 deletion exon 1 TP53_g.12516C>A NM_000546:g.12516C>A IARC TP53 substitution exon 1 TP53_g.12520_12521ins2 NM_000546:g.12520_12521ins2 IARC TP53 insertion exon 1 TP53_g.12482_12483ins1 NM_000546:g.12482_12483ins1 IARC TP53 insertion exon 1 TP53_g.12405G>T NM_000546:g.12405G>T IARC TP53 substitution exon 1 TP53_g.12452C>T NM_000546:g.12452C>T IARC TP53 substitution exon 1 TP53_g.12387G>A NM_000546:g.12387G>A IARC TP53 substitution exon 1 TP53_g.13384G>A NM_000546:g.13384G>A IARC TP53 substitution exon 1 TP53_g.12401C>A NM_000546:g.12401C>A IARC TP53 substitution exon 1 TP53_g.13872_13885del NM_000546:g.13872_13885del IARC TP53 deletion exon 1 TP53_g.12697A>G NM_000546:g.12697A>G IARC TP53 substitution exon 1 TP53_g.12697A>C NM_000546:g.12697A>C IARC TP53 substitution exon 1 TP53_g.11577T>C NM_000546:g.11577T>C IARC TP53 substitution exon 1 TP53_g.12367T>A NM_000546:g.12367T>A IARC TP53 substitution exon 1 TP53_g.12649C>A NM_000546:g.12649C>A IARC TP53 substitution exon 1 TP53_g.16916G>A NM_000546:g.16916G>A IARC TP53 substitution exon 1 TP53_g.12364_12554del NM_000546:g.12364_12554del IARC TP53 deletion exon 1 TP53_g.11589_11637del NM_000546:g.11589_11637del IARC TP53 deletion exon 1 TP53_g.13764G>T NM_000546:g.13764G>T IARC TP53 substitution exon 1 TP53_g.11576T>C NM_000546:g.11576T>C IARC TP53 substitution exon 1 TP53_g.13346A>T NM_000546:g.13346A>T IARC TP53 substitution exon 1 TP53_g.11586G>A NM_000546:g.11586G>A IARC TP53 substitution exon 1 TP53_g.17940C>A NM_000546:g.17940C>A IARC TP53 substitution exon 1 TP53_g.12385_12545del NM_000546:g.12385_12545del IARC TP53 deletion exon 1 TP53_g.16901G>T NM_000546:g.16901G>T IARC TP53 substitution exon 1 TP53_g.12696A>G NM_000546:g.12696A>G IARC TP53 substitution exon 1 TP53_g.11556T>C NM_000546:g.11556T>C IARC TP53 substitution exon 1 TP53_g.12630T>C NM_000546:g.12630T>C IARC TP53 substitution exon 1 TP53_g.12510G>A NM_000546:g.12510G>A IARC TP53 substitution exon 1 TP53_g.13346_13348del NM_000546:g.13346_13348del IARC TP53 deletion exon 1 TP53_g.12430del NM_000546:g.12430del IARC TP53 deletion exon 1 TP53_g.12634del NM_000546:g.12634del IARC TP53 deletion exon 1 TP53_g.13798_13799delinsAG NM_000546:g.13798_13799delinsAG IARC TP53 complex exon 1 TP53_g.11219G>T NM_000546:g.11219G>T IARC TP53 substitution intron 1 TP53_g.12661del NM_000546:g.12661del IARC TP53 deletion exon 1 TP53_g.11589_11605del NM_000546:g.11589_11605del IARC TP53 deletion exon 1 TP53_g.12453_12454ins1 NM_000546:g.12453_12454ins1 IARC TP53 insertion exon 1 TP53_g.12436_12437del NM_000546:g.12436_12437del IARC TP53 deletion exon 1 TP53_g.13316T>A NM_000546:g.13316T>A IARC TP53 substitution exon 1 TP53_g.13403_13406del NM_000546:g.13403_13406del IARC TP53 deletion exon 1 TP53_g.13387C>G NM_000546:g.13387C>G IARC TP53 substitution exon 1 TP53_g.13788del NM_000546:g.13788del IARC TP53 deletion exon 1 TP53_g.13996_13997ins1 NM_000546:g.13996_13997ins1 IARC TP53 insertion exon 1 TP53_g.13829C>A NM_000546:g.13829C>A IARC TP53 substitution exon 1 TP53_g.13852A>C NM_000546:g.13852A>C IARC TP53 substitution exon 1 TP53_g.14014C>T NM_000546:g.14014C>T IARC TP53 substitution exon 1 TP53_g.13384del NM_000546:g.13384del IARC TP53 deletion exon 1 TP53_g.13377A>G NM_000546:g.13377A>G IARC TP53 substitution exon 1 TP53_g.12412C>G NM_000546:g.12412C>G IARC TP53 substitution exon 1 TP53_g.13827_13853del NM_000546:g.13827_13853del IARC TP53 deletion exon 1 TP53_g.12478_12487del NM_000546:g.12478_12487del IARC TP53 deletion exon 1 TP53_g.12538del NM_000546:g.12538del IARC TP53 deletion exon 1 TP53_g.13796G>A NM_000546:g.13796G>A IARC TP53 substitution exon 1 TP53_g.13853G>C NM_000546:g.13853G>C IARC TP53 substitution exon 1 TP53_g.12428_12429delinsAA NM_000546:g.12428_12429delinsAA IARC TP53 complex exon 1 TP53_g.13833_13834del NM_000546:g.13833_13834del IARC TP53 deletion exon 1 TP53_g.13859_13860ins1 NM_000546:g.13859_13860ins1 IARC TP53 insertion exon 1 TP53_g.12473T>C NM_000546:g.12473T>C IARC TP53 substitution exon 1 TP53_g.13823C>T NM_000546:g.13823C>T IARC TP53 substitution exon 1 TP53_g.13802_13803ins1 NM_000546:g.13802_13803ins1 IARC TP53 insertion exon 1 TP53_g.12655del NM_000546:g.12655del IARC TP53 deletion exon 1 TP53_g.13829C>G NM_000546:g.13829C>G IARC TP53 substitution exon 1 TP53_g.16975del NM_000546:g.16975del IARC TP53 deletion exon 1 TP53_g.11473C>T NM_000546:g.11473C>T IARC TP53 substitution exon 1 TP53_g.11532A>T NM_000546:g.11532A>T IARC TP53 substitution exon 1 TP53_g.13357T>A NM_000546:g.13357T>A IARC TP53 substitution exon 1 TP53_g.12736C>G NM_000546:g.12736C>G IARC TP53 substitution exon 1 TP53_g.12500A>C NM_000546:g.12500A>C IARC TP53 substitution exon 1 TP53_g.14054T>G NM_000546:g.14054T>G IARC TP53 substitution exon 1 TP53_g.13393C>A NM_000546:g.13393C>A IARC TP53 substitution exon 1 TP53_g.13831C>A NM_000546:g.13831C>A IARC TP53 substitution exon 1 TP53_g.13376_13377del NM_000546:g.13376_13377del IARC TP53 deletion exon 1 TP53_g.12690_12691ins1 NM_000546:g.12690_12691ins1 IARC TP53 insertion exon 1 TP53_g.12507G>T NM_000546:g.12507G>T IARC TP53 substitution exon 1 TP53_g.12472del NM_000546:g.12472del IARC TP53 deletion exon 1 TP53_g.13857_13891del NM_000546:g.13857_13891del IARC TP53 deletion exon 1 TP53_g.13803_13829del NM_000546:g.13803_13829del IARC TP53 deletion exon 1 TP53_g.13346_13350del NM_000546:g.13346_13350del IARC TP53 deletion exon 1 TP53_g.12469G>C NM_000546:g.12469G>C IARC TP53 substitution exon 1 TP53_g.12403A>G NM_000546:g.12403A>G IARC TP53 substitution exon 1 TP53_g.12669T>A NM_000546:g.12669T>A IARC TP53 substitution exon 1 TP53_g.13762G>A NM_000546:g.13762G>A IARC TP53 substitution intron 1 TP53_g.12631C>G NM_000546:g.12631C>G IARC TP53 substitution exon 1 TP53_g.12674_12675ins2 NM_000546:g.12674_12675ins2 IARC TP53 insertion exon 1 TP53_g.12477C>T NM_000546:g.12477C>T IARC TP53 substitution exon 1 TP53_g.13373A>C NM_000546:g.13373A>C IARC TP53 substitution exon 1 TP53_g.12397C>A NM_000546:g.12397C>A IARC TP53 substitution exon 1 TP53_g.13389T>C NM_000546:g.13389T>C IARC TP53 substitution exon 1 TP53_g.13799T>C NM_000546:g.13799T>C IARC TP53 substitution exon 1 TP53_g.13804G>C NM_000546:g.13804G>C IARC TP53 substitution exon 1 TP53_g.13352_13358del NM_000546:g.13352_13358del IARC TP53 deletion exon 1 TP53_g.14011C>T NM_000546:g.14011C>T IARC TP53 substitution exon 1 TP53_g.11603C>G NM_000546:g.11603C>G IARC TP53 substitution exon 1 TP53_g.12786_12788delinsAGTTA NM_000546:g.12786_12788delinsAGTTA IARC TP53 complex intron 1 TP53_g.13311T>G NM_000546:g.13311T>G IARC TP53 substitution exon 1 TP53_g.13397A>G NM_000546:g.13397A>G IARC TP53 substitution exon 1 TP53_g.13799T>G NM_000546:g.13799T>G IARC TP53 substitution exon 1 TP53_g.13805_13806ins8 NM_000546:g.13805_13806ins8 IARC TP53 insertion exon 1 TP53_g.13309G>A NM_000546:g.13309G>A IARC TP53 substitution intron 1 TP53_g.13900G>A NM_000546:g.13900G>A IARC TP53 substitution intron 1 TP53_g.13784_13785ins1 NM_000546:g.13784_13785ins1 IARC TP53 insertion exon 1 TP53_g.12438A>G NM_000546:g.12438A>G IARC TP53 substitution exon 1 TP53_g.12642T>C NM_000546:g.12642T>C IARC TP53 substitution exon 1 TP53_g.13868C>T NM_000546:g.13868C>T IARC TP53 substitution exon 1 TP53_g.13832A>C NM_000546:g.13832A>C IARC TP53 substitution exon 1 TP53_g.13337_13339delinsCAG NM_000546:g.13337_13339delinsCAG IARC TP53 complex exon 1 TP53_g.12678_12679ins2 NM_000546:g.12678_12679ins2 IARC TP53 insertion exon 1 TP53_g.12387_12388ins1 NM_000546:g.12387_12388ins1 IARC TP53 insertion exon 1 TP53_g.13346_13354del NM_000546:g.13346_13354del IARC TP53 deletion exon 1 TP53_g.13829_13830ins8 NM_000546:g.13829_13830ins8 IARC TP53 insertion exon 1 TP53_g.12510_12511ins3 NM_000546:g.12510_12511ins3 IARC TP53 insertion exon 1 TP53_g.30007del NM_000546:g.30007del IARC TP53 deletion intron 1 TP53_g.11479C>A NM_000546:g.11479C>A IARC TP53 substitution exon 1 TP53_g.13823_13824delinsGT NM_000546:g.13823_13824delinsGT IARC TP53 complex exon 1 TP53_g.14044T>C NM_000546:g.14044T>C IARC TP53 substitution exon 1 TP53_g.12460C>A NM_000546:g.12460C>A IARC TP53 substitution exon 1 TP53_g.11510G>A NM_000546:g.11510G>A IARC TP53 substitution exon 1 TP53_g.12356_12366del NM_000546:g.12356_12366del IARC TP53 deletion intron 1 TP53_g.12459_12460ins1 NM_000546:g.12459_12460ins1 IARC TP53 insertion exon 1 TP53_g.16958G>C NM_000546:g.16958G>C IARC TP53 substitution exon 1 TP53_g.12652_12666del NM_000546:g.12652_12666del IARC TP53 deletion exon 1 TP53_g.13379_13387del NM_000546:g.13379_13387del IARC TP53 deletion exon 1 TP53_g.13351_13352ins3 NM_000546:g.13351_13352ins3 IARC TP53 insertion exon 1 TP53_g.13961_14009del NM_000546:g.13961_14009del IARC TP53 deletion intron 1 TP53_g.11382_11421del NM_000546:g.11382_11421del IARC TP53 deletion exon 1 TP53_g.13349_13360del NM_000546:g.13349_13360del IARC TP53 deletion exon 1 TP53_g.13369_13370ins11 NM_000546:g.13369_13370ins11 IARC TP53 insertion exon 1 TP53_g.13318_13319ins13 NM_000546:g.13318_13319ins13 IARC TP53 insertion exon 1 TP53_g.12557_12571del NM_000546:g.12557_12571del IARC TP53 deletion intron 1 TP53_g.13397A>T NM_000546:g.13397A>T IARC TP53 substitution exon 1 TP53_g.12513_12514ins2 NM_000546:g.12513_12514ins2 IARC TP53 insertion exon 1 TP53_g.11580G>A NM_000546:g.11580G>A IARC TP53 substitution exon 1 TP53_g.13322del NM_000546:g.13322del IARC TP53 deletion exon 1 TP53_g.13346del NM_000546:g.13346del IARC TP53 deletion exon 1 TP53_g.13766_13767ins1 NM_000546:g.13766_13767ins1 IARC TP53 insertion exon 1 TP53_g.13844_13845ins1 NM_000546:g.13844_13845ins1 IARC TP53 insertion exon 1 TP53_g.13802_13803ins3 NM_000546:g.13802_13803ins3 IARC TP53 insertion exon 1 TP53_g.13775_13776ins1 NM_000546:g.13775_13776ins1 IARC TP53 insertion exon 1 TP53_g.14015del NM_000546:g.14015del IARC TP53 deletion exon 1 TP53_g.14007C>T NM_000546:g.14007C>T IARC TP53 substitution exon 1 TP53_g.12717_12718ins1 NM_000546:g.12717_12718ins1 IARC TP53 insertion exon 1 TP53_g.11474_11475ins5 NM_000546:g.11474_11475ins5 IARC TP53 insertion exon 1 TP53_g.13785A>T NM_000546:g.13785A>T IARC TP53 substitution exon 1 TP53_g.12373G>A NM_000546:g.12373G>A IARC TP53 substitution exon 1 TP53_g.13769del NM_000546:g.13769del IARC TP53 deletion exon 1 TP53_g.12510del NM_000546:g.12510del IARC TP53 deletion exon 1 TP53_g.12712del NM_000546:g.12712del IARC TP53 deletion exon 1 TP53_g.12654del NM_000546:g.12654del IARC TP53 deletion exon 1 TP53_g.12711T>A NM_000546:g.12711T>A IARC TP53 substitution exon 1 TP53_g.12480G>A NM_000546:g.12480G>A IARC TP53 substitution exon 1 TP53_g.12432T>G NM_000546:g.12432T>G IARC TP53 substitution exon 1 TP53_g.13402C>G NM_000546:g.13402C>G IARC TP53 substitution exon 1 TP53_g.11400_11459del NM_000546:g.11400_11459del IARC TP53 deletion exon 1 TP53_g.13349_13351del NM_000546:g.13349_13351del IARC TP53 deletion exon 1 TP53_g.16931C>G NM_000546:g.16931C>G IARC TP53 substitution exon 1 TP53_g.11563T>G NM_000546:g.11563T>G IARC TP53 substitution exon 1 TP53_g.13350_13352del NM_000546:g.13350_13352del IARC TP53 deletion exon 1 TP53_g.13400A>G NM_000546:g.13400A>G IARC TP53 substitution exon 1 TP53_g.12649C>G NM_000546:g.12649C>G IARC TP53 substitution exon 1 TP53_g.16915_16921del NM_000546:g.16915_16921del IARC TP53 deletion exon 1 TP53_g.12676G>C NM_000546:g.12676G>C IARC TP53 substitution exon 1 TP53_g.13358_13389del NM_000546:g.13358_13389del IARC TP53 deletion exon 1 TP53_g.13387_13388ins1 NM_000546:g.13387_13388ins1 IARC TP53 insertion exon 1 TP53_g.12652A>G NM_000546:g.12652A>G IARC TP53 substitution exon 1 TP53_g.13820A>C NM_000546:g.13820A>C IARC TP53 substitution exon 1 TP53_g.13363_13364ins1 NM_000546:g.13363_13364ins1 IARC TP53 insertion exon 1 TP53_g.13806del NM_000546:g.13806del IARC TP53 deletion exon 1 TP53_g.12483_12484ins1 NM_000546:g.12483_12484ins1 IARC TP53 insertion exon 1 TP53_g.12454_12465del NM_000546:g.12454_12465del IARC TP53 deletion exon 1 TP53_g.13815_13820del NM_000546:g.13815_13820del IARC TP53 deletion exon 1 TP53_g.13363_13364ins3 NM_000546:g.13363_13364ins3 IARC TP53 insertion exon 1 TP53_g.13867A>T NM_000546:g.13867A>T IARC TP53 substitution exon 1 TP53_g.12459C>T NM_000546:g.12459C>T IARC TP53 substitution exon 1 TP53_g.11445_11450del NM_000546:g.11445_11450del IARC TP53 deletion exon 1 TP53_g.12692_12693delinsTT NM_000546:g.12692_12693delinsTT IARC TP53 complex exon 1 TP53_g.13417_13422del NM_000546:g.13417_13422del IARC TP53 deletion exon 1 TP53_g.12495G>T NM_000546:g.12495G>T IARC TP53 substitution exon 1 TP53_g.12538G>A NM_000546:g.12538G>A IARC TP53 substitution exon 1 TP53_g.13777G>C NM_000546:g.13777G>C IARC TP53 substitution exon 1 TP53_g.13881_13882del NM_000546:g.13881_13882del IARC TP53 deletion exon 1 TP53_g.13878_13966del NM_000546:g.13878_13966del IARC TP53 deletion exon 1 TP53_g.13803_13817del NM_000546:g.13803_13817del IARC TP53 deletion exon 1 TP53_g.13890del NM_000546:g.13890del IARC TP53 deletion exon 1 TP53_g.12462_12463ins1 NM_000546:g.12462_12463ins1 IARC TP53 insertion exon 1 TP53_g.11588C>G NM_000546:g.11588C>G IARC TP53 substitution exon 1 TP53_g.16922T>G NM_000546:g.16922T>G IARC TP53 substitution exon 1 TP53_g.12629G>A NM_000546:g.12629G>A IARC TP53 substitution exon 1 TP53_g.11541C>T NM_000546:g.11541C>T IARC TP53 substitution exon 1 TP53_g.13836del NM_000546:g.13836del IARC TP53 deletion exon 1 TP53_g.13872G>A NM_000546:g.13872G>A IARC TP53 substitution exon 1 TP53_g.13365T>G NM_000546:g.13365T>G IARC TP53 substitution exon 1 TP53_g.13390C>A NM_000546:g.13390C>A IARC TP53 substitution exon 1 TP53_g.13369C>A NM_000546:g.13369C>A IARC TP53 substitution exon 1 TP53_g.13365T>A NM_000546:g.13365T>A IARC TP53 substitution exon 1 TP53_g.13363C>A NM_000546:g.13363C>A IARC TP53 substitution exon 1 TP53_g.12709C>G NM_000546:g.12709C>G IARC TP53 substitution exon 1 TP53_g.12766G>C NM_000546:g.12766G>C IARC TP53 substitution intron 1 TP53_g.13771T>A NM_000546:g.13771T>A IARC TP53 substitution exon 1 TP53_g.12692A>G NM_000546:g.12692A>G IARC TP53 substitution exon 1 TP53_g.12706_12712del NM_000546:g.12706_12712del IARC TP53 deletion exon 1 TP53_g.12368del NM_000546:g.12368del IARC TP53 deletion exon 1 TP53_g.12375_12382del NM_000546:g.12375_12382del IARC TP53 deletion exon 1 TP53_g.12669del NM_000546:g.12669del IARC TP53 deletion exon 1 TP53_g.12694_12713del NM_000546:g.12694_12713del IARC TP53 deletion exon 1 TP53_g.12714_12715ins5 NM_000546:g.12714_12715ins5 IARC TP53 insertion exon 1 TP53_g.13355_13356del NM_000546:g.13355_13356del IARC TP53 deletion exon 1 TP53_g.13360del NM_000546:g.13360del IARC TP53 deletion exon 1 TP53_g.13804_13805del NM_000546:g.13804_13805del IARC TP53 deletion exon 1 TP53_g.12426_12427ins21 NM_000546:g.12426_12427ins21 IARC TP53 insertion exon 1 TP53_g.13763T>G NM_000546:g.13763T>G IARC TP53 substitution exon 1 TP53_g.13357T>G NM_000546:g.13357T>G IARC TP53 substitution exon 1 TP53_g.13842_13843del NM_000546:g.13842_13843del IARC TP53 deletion exon 1 TP53_g.14012del NM_000546:g.14012del IARC TP53 deletion exon 1 TP53_g.13883A>G NM_000546:g.13883A>G IARC TP53 substitution exon 1 TP53_g.13406_13413del NM_000546:g.13406_13413del IARC TP53 deletion exon 1 TP53_g.11567C>G NM_000546:g.11567C>G IARC TP53 substitution exon 1 TP53_g.12477C>A NM_000546:g.12477C>A IARC TP53 substitution exon 1 TP53_g.13331_13351del NM_000546:g.13331_13351del IARC TP53 deletion exon 1 TP53_g.13346_13351del NM_000546:g.13346_13351del IARC TP53 deletion exon 1 TP53_g.12727T>G NM_000546:g.12727T>G IARC TP53 substitution exon 1 TP53_g.13791_13802del NM_000546:g.13791_13802del IARC TP53 deletion exon 1 TP53_g.12641C>T NM_000546:g.12641C>T IARC TP53 substitution exon 1 TP53_g.11437C>A NM_000546:g.11437C>A IARC TP53 substitution exon 1 TP53_g.11567C>A NM_000546:g.11567C>A IARC TP53 substitution exon 1 TP53_g.12505_12506ins18 NM_000546:g.12505_12506ins18 IARC TP53 insertion exon 1 TP53_g.12743T>G NM_000546:g.12743T>G IARC TP53 substitution intron 1 TP53_g.13923G>A NM_000546:g.13923G>A IARC TP53 substitution intron 1 TP53_g.13892_13893ins1 NM_000546:g.13892_13893ins1 IARC TP53 insertion exon 1 TP53_g.12409_12416del NM_000546:g.12409_12416del IARC TP53 deletion exon 1 TP53_g.12711T>C NM_000546:g.12711T>C IARC TP53 substitution exon 1 TP53_g.12719_12732del NM_000546:g.12719_12732del IARC TP53 deletion exon 1 TP53_g.13855A>T NM_000546:g.13855A>T IARC TP53 substitution exon 1 TP53_g.13894_13895delinsCT NM_000546:g.13894_13895delinsCT IARC TP53 complex exon 1 TP53_g.13786del NM_000546:g.13786del IARC TP53 deletion exon 1 TP53_g.12498_12499ins1 NM_000546:g.12498_12499ins1 IARC TP53 insertion exon 1 TP53_g.30003_30026del NM_000546:g.30003_30026del IARC TP53 deletion intron 1 TP53_g.13851A>G NM_000546:g.13851A>G IARC TP53 substitution exon 1 TP53_g.13869C>A NM_000546:g.13869C>A IARC TP53 substitution exon 1 TP53_g.13156G>T NM_000546:g.13156G>T IARC TP53 substitution intron 1 TP53_g.13443C>A NM_000546:g.13443C>A IARC TP53 substitution intron 1 TP53_g.13402C>T NM_000546:g.13402C>T IARC TP53 substitution exon 1 TP53_g.12722T>C NM_000546:g.12722T>C IARC TP53 substitution exon 1 TP53_g.13773_13781del NM_000546:g.13773_13781del IARC TP53 deletion exon 1 TP53_g.12706_12707del NM_000546:g.12706_12707del IARC TP53 deletion exon 1 TP53_g.12366C>A NM_000546:g.12366C>A IARC TP53 substitution exon 1 TP53_g.11370_11506del NM_000546:g.11370_11506del IARC TP53 deletion exon 1 TP53_g.12484T>C NM_000546:g.12484T>C IARC TP53 substitution exon 1 TP53_g.11590A>G NM_000546:g.11590A>G IARC TP53 substitution exon 1 TP53_g.12430_12431del NM_000546:g.12430_12431del IARC TP53 deletion exon 1 TP53_g.13391_13393del NM_000546:g.13391_13393del IARC TP53 deletion exon 1 TP53_g.12373_12375del NM_000546:g.12373_12375del IARC TP53 deletion exon 1 TP53_g.12713G>C NM_000546:g.12713G>C IARC TP53 substitution exon 1 TP53_g.12447C>A NM_000546:g.12447C>A IARC TP53 substitution exon 1 TP53_g.13325A>G NM_000546:g.13325A>G IARC TP53 substitution exon 1 TP53_g.13345_13346ins3 NM_000546:g.13345_13346ins3 IARC TP53 insertion exon 1 TP53_g.12661_12669del NM_000546:g.12661_12669del IARC TP53 deletion exon 1 TP53_g.12539A>G NM_000546:g.12539A>G IARC TP53 substitution exon 1 TP53_g.13385_13394del NM_000546:g.13385_13394del IARC TP53 deletion exon 1 TP53_g.12456_12457ins4 NM_000546:g.12456_12457ins4 IARC TP53 insertion exon 1 TP53_g.11514T>A NM_000546:g.11514T>A IARC TP53 substitution exon 1 TP53_g.14012_14016del NM_000546:g.14012_14016del IARC TP53 deletion exon 1 TP53_g.12451_12462del NM_000546:g.12451_12462del IARC TP53 deletion exon 1 TP53_g.13898A>G NM_000546:g.13898A>G IARC TP53 substitution exon 1 TP53_g.11364C>A NM_000546:g.11364C>A IARC TP53 substitution exon 1 TP53_g.11529del NM_000546:g.11529del IARC TP53 deletion exon 1 TP53_g.13994del NM_000546:g.13994del IARC TP53 deletion exon 1 TP53_g.13860_13882del NM_000546:g.13860_13882del IARC TP53 deletion exon 1 TP53_g.13785_13831del NM_000546:g.13785_13831del IARC TP53 deletion exon 1 TP53_g.12472_12478del NM_000546:g.12472_12478del IARC TP53 deletion exon 1 TP53_g.13858G>T NM_000546:g.13858G>T IARC TP53 substitution exon 1 TP53_g.14027_14077del NM_000546:g.14027_14077del IARC TP53 deletion exon 1 TP53_g.11568_11571del NM_000546:g.11568_11571del IARC TP53 deletion exon 1 TP53_g.12450C>G NM_000546:g.12450C>G IARC TP53 substitution exon 1 TP53_g.12743T>C NM_000546:g.12743T>C IARC TP53 substitution intron 1 TP53_g.12419A>G NM_000546:g.12419A>G IARC TP53 substitution exon 1 TP53_g.12644A>T NM_000546:g.12644A>T IARC TP53 substitution exon 1 TP53_g.12673C>A NM_000546:g.12673C>A IARC TP53 substitution exon 1 TP53_g.12651T>G NM_000546:g.12651T>G IARC TP53 substitution exon 1 TP53_g.13799_13800ins1 NM_000546:g.13799_13800ins1 IARC TP53 insertion exon 1 TP53_g.13881C>T NM_000546:g.13881C>T IARC TP53 substitution exon 1 TP53_g.11607G>A NM_000546:g.11607G>A IARC TP53 substitution intron 1 TP53_g.13808C>A NM_000546:g.13808C>A IARC TP53 substitution exon 1 TP53_g.13394A>C NM_000546:g.13394A>C IARC TP53 substitution exon 1 TP53_g.12526G>A NM_000546:g.12526G>A IARC TP53 substitution exon 1 TP53_g.12651del NM_000546:g.12651del IARC TP53 deletion exon 1 TP53_g.12376del NM_000546:g.12376del IARC TP53 deletion exon 1 TP53_g.12420_12431del NM_000546:g.12420_12431del IARC TP53 deletion exon 1 TP53_g.12502_12547del NM_000546:g.12502_12547del IARC TP53 deletion exon 1 TP53_g.13384_13385ins1 NM_000546:g.13384_13385ins1 IARC TP53 insertion exon 1 TP53_g.12523_12525delinsTAG NM_000546:g.12523_12525delinsTAG IARC TP53 complex exon 1 TP53_g.13837A>C NM_000546:g.13837A>C IARC TP53 substitution exon 1 TP53_g.13840A>T NM_000546:g.13840A>T IARC TP53 substitution exon 1 TP53_g.12656del NM_000546:g.12656del IARC TP53 deletion exon 1 TP53_g.12685_12689del NM_000546:g.12685_12689del IARC TP53 deletion exon 1 TP53_g.12359_12363del NM_000546:g.12359_12363del IARC TP53 deletion intron 1 TP53_g.13378_13379delinsAT NM_000546:g.13378_13379delinsAT IARC TP53 complex exon 1 TP53_g.12409_12410ins1 NM_000546:g.12409_12410ins1 IARC TP53 insertion exon 1 TP53_g.12489G>A NM_000546:g.12489G>A IARC TP53 substitution exon 1 TP53_g.12361C>T NM_000546:g.12361C>T IARC TP53 substitution intron 1 TP53_g.13311T>A NM_000546:g.13311T>A IARC TP53 substitution exon 1 TP53_g.12450C>A NM_000546:g.12450C>A IARC TP53 substitution exon 1 TP53_g.12536C>T NM_000546:g.12536C>T IARC TP53 substitution exon 1 TP53_g.12456C>G NM_000546:g.12456C>G IARC TP53 substitution exon 1 TP53_g.12414T>C NM_000546:g.12414T>C IARC TP53 substitution exon 1 TP53_g.12717_12718ins8 NM_000546:g.12717_12718ins8 IARC TP53 insertion exon 1 TP53_g.13803del NM_000546:g.13803del IARC TP53 deletion exon 1 TP53_g.12452C>G NM_000546:g.12452C>G IARC TP53 substitution exon 1 TP53_g.12397_12426del NM_000546:g.12397_12426del IARC TP53 deletion exon 1 TP53_g.12517_12528del NM_000546:g.12517_12528del IARC TP53 deletion exon 1 TP53_g.12469_12472del NM_000546:g.12469_12472del IARC TP53 deletion exon 1 TP53_g.13791_13792delinsCG NM_000546:g.13791_13792delinsCG IARC TP53 complex exon 1 TP53_g.14008_14009ins1 NM_000546:g.14008_14009ins1 IARC TP53 insertion exon 1 TP53_g.14053T>G NM_000546:g.14053T>G IARC TP53 substitution exon 1 TP53_g.12680A>C NM_000546:g.12680A>C IARC TP53 substitution exon 1 TP53_g.13353A>T NM_000546:g.13353A>T IARC TP53 substitution exon 1 TP53_g.12531C>T NM_000546:g.12531C>T IARC TP53 substitution exon 1 TP53_g.12369C>T NM_000546:g.12369C>T IARC TP53 substitution exon 1 TP53_g.12646C>A NM_000546:g.12646C>A IARC TP53 substitution exon 1 TP53_g.13329C>T NM_000546:g.13329C>T IARC TP53 substitution exon 1 TP53_g.12399_12400ins1 NM_000546:g.12399_12400ins1 IARC TP53 insertion exon 1 TP53_g.12492C>A NM_000546:g.12492C>A IARC TP53 substitution exon 1 TP53_g.12630_12631ins1 NM_000546:g.12630_12631ins1 IARC TP53 insertion exon 1 TP53_g.13373_13387del NM_000546:g.13373_13387del IARC TP53 deletion exon 1 TP53_g.12403_12407del NM_000546:g.12403_12407del IARC TP53 deletion exon 1 TP53_g.13337_13344del NM_000546:g.13337_13344del IARC TP53 deletion exon 1 TP53_g.13362_13363delinsTT NM_000546:g.13362_13363delinsTT IARC TP53 complex exon 1 TP53_g.13921C>T NM_000546:g.13921C>T IARC TP53 substitution intron 1 TP53_g.12466del NM_000546:g.12466del IARC TP53 deletion exon 1 TP53_g.12436_12454del NM_000546:g.12436_12454del IARC TP53 deletion exon 1 TP53_g.12720_12721ins5 NM_000546:g.12720_12721ins5 IARC TP53 insertion exon 1 TP53_g.13369C>G NM_000546:g.13369C>G IARC TP53 substitution exon 1 TP53_g.12527A>G NM_000546:g.12527A>G IARC TP53 substitution exon 1 TP53_g.12703T>C NM_000546:g.12703T>C IARC TP53 substitution exon 1 TP53_g.13797del NM_000546:g.13797del IARC TP53 deletion exon 1 TP53_g.12408C>A NM_000546:g.12408C>A IARC TP53 substitution exon 1 TP53_g.13802T>G NM_000546:g.13802T>G IARC TP53 substitution exon 1 TP53_g.12509G>C NM_000546:g.12509G>C IARC TP53 substitution exon 1 TP53_g.13784C>T NM_000546:g.13784C>T IARC TP53 substitution exon 1 TP53_g.13360C>T NM_000546:g.13360C>T IARC TP53 substitution exon 1 TP53_g.13397A>C NM_000546:g.13397A>C IARC TP53 substitution exon 1 TP53_g.13853G>A NM_000546:g.13853G>A IARC TP53 substitution exon 1 TP53_g.12405_12406ins1 NM_000546:g.12405_12406ins1 IARC TP53 insertion exon 1 TP53_g.12513C>A NM_000546:g.12513C>A IARC TP53 substitution exon 1 TP53_g.13388A>G NM_000546:g.13388A>G IARC TP53 substitution exon 1 TP53_g.11338C>T NM_000546:g.11338C>T IARC TP53 substitution exon 1 TP53_g.11205A>C NM_000546:g.11205A>C IARC TP53 substitution exon 1 TP53_g.14020_14021ins1 NM_000546:g.14020_14021ins1 IARC TP53 insertion exon 1 TP53_g.11589_11788del NM_000546:g.11589_11788del IARC TP53 deletion exon 1 TP53_g.11553_11563del NM_000546:g.11553_11563del IARC TP53 deletion exon 1 TP53_g.13353_13354delinsGT NM_000546:g.13353_13354delinsGT IARC TP53 complex exon 1 TP53_g.12643C>A NM_000546:g.12643C>A IARC TP53 substitution exon 1 TP53_g.12645G>C NM_000546:g.12645G>C IARC TP53 substitution exon 1 TP53_g.12408_12409ins1 NM_000546:g.12408_12409ins1 IARC TP53 insertion exon 1 TP53_g.16905_16906ins16 NM_000546:g.16905_16906ins16 IARC TP53 insertion exon 1 TP53_g.13990A>G NM_000546:g.13990A>G IARC TP53 substitution intron 1 TP53_g.16924del NM_000546:g.16924del IARC TP53 deletion exon 1 TP53_g.13761_13762ins3 NM_000546:g.13761_13762ins3 IARC TP53 insertion intron 1 TP53_g.12412_12413delinsTT NM_000546:g.12412_12413delinsTT IARC TP53 complex exon 1 TP53_g.12368_12369delinsTT NM_000546:g.12368_12369delinsTT IARC TP53 complex exon 1 TP53_g.12733_12734delinsTT NM_000546:g.12733_12734delinsTT IARC TP53 complex exon 1 TP53_g.13359_13360delinsTT NM_000546:g.13359_13360delinsTT IARC TP53 complex exon 1 TP53_g.12401_12402delinsTT NM_000546:g.12401_12402delinsTT IARC TP53 complex exon 1 TP53_g.12725_12726delinsTT NM_000546:g.12725_12726delinsTT IARC TP53 complex exon 1 TP53_g.13851_13869del NM_000546:g.13851_13869del IARC TP53 deletion exon 1 TP53_g.12721_12730del NM_000546:g.12721_12730del IARC TP53 deletion exon 1 TP53_g.13815_13818del NM_000546:g.13815_13818del IARC TP53 deletion exon 1 TP53_g.11526_11527del NM_000546:g.11526_11527del IARC TP53 deletion exon 1 TP53_g.30000_30001ins16 NM_000546:g.30000_30001ins16 IARC TP53 insertion intron 1 TP53_g.13845del NM_000546:g.13845del IARC TP53 deletion exon 1 TP53_g.12678G>A NM_000546:g.12678G>A IARC TP53 substitution exon 1 TP53_g.13310_13311del NM_000546:g.13310_13311del IARC TP53 deletion exon 1 TP53_g.13334C>T NM_000546:g.13334C>T IARC TP53 substitution exon 1 TP53_g.12397C>T NM_000546:g.12397C>T IARC TP53 substitution exon 1 TP53_g.12544G>A NM_000546:g.12544G>A IARC TP53 substitution exon 1 TP53_g.11467C>G NM_000546:g.11467C>G IARC TP53 substitution exon 1 TP53_g.12382del NM_000546:g.12382del IARC TP53 deletion exon 1 TP53_g.12411del NM_000546:g.12411del IARC TP53 deletion exon 1 TP53_g.13768_13769ins1 NM_000546:g.13768_13769ins1 IARC TP53 insertion exon 1 TP53_g.12538G>C NM_000546:g.12538G>C IARC TP53 substitution exon 1 TP53_g.12406_12407ins1 NM_000546:g.12406_12407ins1 IARC TP53 insertion exon 1 TP53_g.12520_12521ins1 NM_000546:g.12520_12521ins1 IARC TP53 insertion exon 1 TP53_g.12491_12492ins1 NM_000546:g.12491_12492ins1 IARC TP53 insertion exon 1 TP53_g.12404del NM_000546:g.12404del IARC TP53 deletion exon 1 TP53_g.12729_12730ins1 NM_000546:g.12729_12730ins1 IARC TP53 insertion exon 1 TP53_g.13343_13345del NM_000546:g.13343_13345del IARC TP53 deletion exon 1 TP53_g.12397del NM_000546:g.12397del IARC TP53 deletion exon 1 TP53_g.12429_12430ins2 NM_000546:g.12429_12430ins2 IARC TP53 insertion exon 1 TP53_g.12456_12457ins1 NM_000546:g.12456_12457ins1 IARC TP53 insertion exon 1 TP53_g.12459_12460ins4 NM_000546:g.12459_12460ins4 IARC TP53 insertion exon 1 TP53_g.12595_12616del NM_000546:g.12595_12616del IARC TP53 deletion intron 1 TP53_g.12639_12640ins2 NM_000546:g.12639_12640ins2 IARC TP53 insertion exon 1 TP53_g.13281_13304del NM_000546:g.13281_13304del IARC TP53 deletion intron 1 TP53_g.13352_13357del NM_000546:g.13352_13357del IARC TP53 deletion exon 1 TP53_g.13364_13371del NM_000546:g.13364_13371del IARC TP53 deletion exon 1 TP53_g.13841G>T NM_000546:g.13841G>T IARC TP53 substitution exon 1 TP53_g.11424_11444del NM_000546:g.11424_11444del IARC TP53 deletion exon 1 TP53_g.12700_12714del NM_000546:g.12700_12714del IARC TP53 deletion exon 1 TP53_g.12727_12733del NM_000546:g.12727_12733del IARC TP53 deletion exon 1 TP53_g.13322T>G NM_000546:g.13322T>G IARC TP53 substitution exon 1 TP53_g.13394_13396del NM_000546:g.13394_13396del IARC TP53 deletion exon 1 TP53_g.13884_13888del NM_000546:g.13884_13888del IARC TP53 deletion exon 1 TP53_g.11501_11502ins1 NM_000546:g.11501_11502ins1 IARC TP53 insertion exon 1 TP53_g.13342_13343ins2 NM_000546:g.13342_13343ins2 IARC TP53 insertion exon 1 TP53_g.14003A>C NM_000546:g.14003A>C IARC TP53 substitution exon 1 TP53_g.16891del NM_000546:g.16891del IARC TP53 deletion exon 1 TP53_g.12702T>C NM_000546:g.12702T>C IARC TP53 substitution exon 1 TP53_g.12658G>T NM_000546:g.12658G>T IARC TP53 substitution exon 1 TP53_g.12725C>A NM_000546:g.12725C>A IARC TP53 substitution exon 1 TP53_g.12476A>C NM_000546:g.12476A>C IARC TP53 substitution exon 1 TP53_g.12421_12423del NM_000546:g.12421_12423del IARC TP53 deletion exon 1 TP53_g.12733_12736del NM_000546:g.12733_12736del IARC TP53 deletion exon 1 TP53_g.12381_12383del NM_000546:g.12381_12383del IARC TP53 deletion exon 1 TP53_g.12430_12458del NM_000546:g.12430_12458del IARC TP53 deletion exon 1 TP53_g.12400_12403del NM_000546:g.12400_12403del IARC TP53 deletion exon 1 TP53_g.12498_12499ins6 NM_000546:g.12498_12499ins6 IARC TP53 insertion exon 1 TP53_g.13845C>T NM_000546:g.13845C>T IARC TP53 substitution exon 1 TP53_g.13333_13334ins1 NM_000546:g.13333_13334ins1 IARC TP53 insertion exon 1 TP53_g.12550G>C NM_000546:g.12550G>C IARC TP53 substitution intron 1 TP53_g.17926del NM_000546:g.17926del IARC TP53 deletion exon 1 TP53_g.12688_12708del NM_000546:g.12688_12708del IARC TP53 deletion exon 1 TP53_g.13418_13441del NM_000546:g.13418_13441del IARC TP53 deletion exon 1 TP53_g.11563T>A NM_000546:g.11563T>A IARC TP53 substitution exon 1 TP53_g.13379_13381delinsTGC NM_000546:g.13379_13381delinsTGC IARC TP53 complex exon 1 TP53_g.12571C>T NM_000546:g.12571C>T IARC TP53 substitution intron 1 TP53_g.12528G>C NM_000546:g.12528G>C IARC TP53 substitution exon 1 TP53_g.12511_12528del NM_000546:g.12511_12528del IARC TP53 deletion exon 1 TP53_g.13848_13858del NM_000546:g.13848_13858del IARC TP53 deletion exon 1 TP53_g.13826_13827ins2 NM_000546:g.13826_13827ins2 IARC TP53 insertion exon 1 TP53_g.13791_13793del NM_000546:g.13791_13793del IARC TP53 deletion exon 1 TP53_g.12638C>G NM_000546:g.12638C>G IARC TP53 substitution exon 1 TP53_g.11470C>T NM_000546:g.11470C>T IARC TP53 substitution exon 1 TP53_g.11485C>T NM_000546:g.11485C>T IARC TP53 substitution exon 1 TP53_g.11544del NM_000546:g.11544del IARC TP53 deletion exon 1 TP53_g.12414T>A NM_000546:g.12414T>A IARC TP53 substitution exon 1 TP53_g.13379C>A NM_000546:g.13379C>A IARC TP53 substitution exon 1 TP53_g.12730_12734del NM_000546:g.12730_12734del IARC TP53 deletion exon 1 TP53_g.12545A>G NM_000546:g.12545A>G IARC TP53 substitution exon 1 TP53_g.11449del NM_000546:g.11449del IARC TP53 deletion exon 1 TP53_g.12637C>T NM_000546:g.12637C>T IARC TP53 substitution exon 1 TP53_g.13854A>T NM_000546:g.13854A>T IARC TP53 substitution exon 1 TP53_g.13794_13856del NM_000546:g.13794_13856del IARC TP53 deletion exon 1 TP53_g.14020_14021delinsTT NM_000546:g.14020_14021delinsTT IARC TP53 complex exon 1 TP53_g.30004_30022del NM_000546:g.30004_30022del IARC TP53 deletion intron 1 TP53_g.14059C>A NM_000546:g.14059C>A IARC TP53 substitution exon 1 TP53_g.12454_12457del NM_000546:g.12454_12457del IARC TP53 deletion exon 1 TP53_g.12706_12709del NM_000546:g.12706_12709del IARC TP53 deletion exon 1 TP53_g.13388_13399del NM_000546:g.13388_13399del IARC TP53 deletion exon 1 TP53_g.13419del NM_000546:g.13419del IARC TP53 deletion exon 1 TP53_g.12542G>T NM_000546:g.12542G>T IARC TP53 substitution exon 1 TP53_g.12529C>A NM_000546:g.12529C>A IARC TP53 substitution exon 1 TP53_g.12645G>T NM_000546:g.12645G>T IARC TP53 substitution exon 1 TP53_g.12394del NM_000546:g.12394del IARC TP53 deletion exon 1 TP53_g.13337_13338del NM_000546:g.13337_13338del IARC TP53 deletion exon 1 TP53_g.12714T>A NM_000546:g.12714T>A IARC TP53 substitution exon 1 TP53_g.12685T>A NM_000546:g.12685T>A IARC TP53 substitution exon 1 TP53_g.13415T>A NM_000546:g.13415T>A IARC TP53 substitution exon 1 TP53_g.13778A>T NM_000546:g.13778A>T IARC TP53 substitution exon 1 TP53_g.13312T>C NM_000546:g.13312T>C IARC TP53 substitution exon 1 TP53_g.12421C>A NM_000546:g.12421C>A IARC TP53 substitution exon 1 TP53_g.12679_12691del NM_000546:g.12679_12691del IARC TP53 deletion exon 1 TP53_g.12701_12702del NM_000546:g.12701_12702del IARC TP53 deletion exon 1 TP53_g.12435_12436ins1 NM_000546:g.12435_12436ins1 IARC TP53 insertion exon 1 TP53_g.13777del NM_000546:g.13777del IARC TP53 deletion exon 1 TP53_g.30017_30022del NM_000546:g.30017_30022del IARC TP53 deletion exon 1 TP53_g.12502G>A NM_000546:g.12502G>A IARC TP53 substitution exon 1 TP53_g.12690_12691delinsGT NM_000546:g.12690_12691delinsGT IARC TP53 complex exon 1 TP53_g.13347T>C NM_000546:g.13347T>C IARC TP53 substitution exon 1 TP53_g.12639T>A NM_000546:g.12639T>A IARC TP53 substitution exon 1 TP53_g.13877G>T NM_000546:g.13877G>T IARC TP53 substitution exon 1 TP53_g.12734C>G NM_000546:g.12734C>G IARC TP53 substitution exon 1 TP53_g.13809T>C NM_000546:g.13809T>C IARC TP53 substitution exon 1 TP53_g.13411A>C NM_000546:g.13411A>C IARC TP53 substitution exon 1 TP53_g.13382_13388del NM_000546:g.13382_13388del IARC TP53 deletion exon 1 TP53_g.13313del NM_000546:g.13313del IARC TP53 deletion exon 1 TP53_g.11495_11496ins1 NM_000546:g.11495_11496ins1 IARC TP53 insertion exon 1 TP53_g.12649del NM_000546:g.12649del IARC TP53 deletion exon 1 TP53_g.13344A>T NM_000546:g.13344A>T IARC TP53 substitution exon 1 TP53_g.13385_13396del NM_000546:g.13385_13396del IARC TP53 deletion exon 1 TP53_g.12668A>G NM_000546:g.12668A>G IARC TP53 substitution exon 1 TP53_g.12514_12516del NM_000546:g.12514_12516del IARC TP53 deletion exon 1 TP53_g.12736C>T NM_000546:g.12736C>T IARC TP53 substitution exon 1 TP53_g.12519C>G NM_000546:g.12519C>G IARC TP53 substitution exon 1 TP53_g.12364_12381del NM_000546:g.12364_12381del IARC TP53 deletion exon 1 TP53_g.12429_12430ins1 NM_000546:g.12429_12430ins1 IARC TP53 insertion exon 1 TP53_g.11569T>C NM_000546:g.11569T>C IARC TP53 substitution exon 1 TP53_g.30019_30020ins6 NM_000546:g.30019_30020ins6 IARC TP53 insertion exon 1 TP53_g.12405_12410del NM_000546:g.12405_12410del IARC TP53 deletion exon 1 TP53_g.12364_12365delinsGG NM_000546:g.12364_12365delinsGG IARC TP53 complex exon 1 TP53_g.13416C>A NM_000546:g.13416C>A IARC TP53 substitution exon 1 TP53_g.11597_11598ins1 NM_000546:g.11597_11598ins1 IARC TP53 insertion exon 1 TP53_g.13999C>T NM_000546:g.13999C>T IARC TP53 substitution exon 1 TP53_g.14016C>T NM_000546:g.14016C>T IARC TP53 substitution exon 1 TP53_g.12718_12723del NM_000546:g.12718_12723del IARC TP53 deletion exon 1 TP53_g.13412_13414delinsCCG NM_000546:g.13412_13414delinsCCG IARC TP53 complex exon 1 TP53_g.13322T>C NM_000546:g.13322T>C IARC TP53 substitution exon 1 TP53_g.13311T>C NM_000546:g.13311T>C IARC TP53 substitution exon 1 TP53_g.11565_11579del NM_000546:g.11565_11579del IARC TP53 deletion exon 1 TP53_g.11455C>G NM_000546:g.11455C>G IARC TP53 substitution exon 1 TP53_g.12629G>T NM_000546:g.12629G>T IARC TP53 substitution exon 1 TP53_g.13855A>C NM_000546:g.13855A>C IARC TP53 substitution exon 1 TP53_g.11544G>C NM_000546:g.11544G>C IARC TP53 substitution exon 1 TP53_g.11540C>A NM_000546:g.11540C>A IARC TP53 substitution exon 1 TP53_g.12711_12712ins5 NM_000546:g.12711_12712ins5 IARC TP53 insertion exon 1 TP53_g.12621_12626del NM_000546:g.12621_12626del IARC TP53 deletion intron 1 TP53_g.12522_12523ins1 NM_000546:g.12522_12523ins1 IARC TP53 insertion exon 1 TP53_g.12370_12374del NM_000546:g.12370_12374del IARC TP53 deletion exon 1 TP53_g.13397_13399del NM_000546:g.13397_13399del IARC TP53 deletion exon 1 TP53_g.13839_13840del NM_000546:g.13839_13840del IARC TP53 deletion exon 1 TP53_g.13820_13821ins8 NM_000546:g.13820_13821ins8 IARC TP53 insertion exon 1 TP53_g.13357T>C NM_000546:g.13357T>C IARC TP53 substitution exon 1 TP53_g.13776del NM_000546:g.13776del IARC TP53 deletion exon 1 TP53_g.12636_12637ins1 NM_000546:g.12636_12637ins1 IARC TP53 insertion exon 1 TP53_g.12671T>A NM_000546:g.12671T>A IARC TP53 substitution exon 1 TP53_g.12365A>C NM_000546:g.12365A>C IARC TP53 substitution exon 1 TP53_g.11601T>A NM_000546:g.11601T>A IARC TP53 substitution exon 1 TP53_g.13378_13379delinsGT NM_000546:g.13378_13379delinsGT IARC TP53 complex exon 1 TP53_g.12363_12364ins1 NM_000546:g.12363_12364ins1 IARC TP53 insertion exon 1 TP53_g.12515_12517delinsTTT NM_000546:g.12515_12517delinsTTT IARC TP53 complex exon 1 TP53_g.11370_11371delinsTT NM_000546:g.11370_11371delinsTT IARC TP53 complex exon 1 TP53_g.12440_12441delinsTT NM_000546:g.12440_12441delinsTT IARC TP53 complex exon 1 TP53_g.12517_12518delinsTT NM_000546:g.12517_12518delinsTT IARC TP53 complex exon 1 TP53_g.12474_12475delinsTC NM_000546:g.12474_12475delinsTC IARC TP53 complex exon 1 TP53_g.11494_11495delinsTT NM_000546:g.11494_11495delinsTT IARC TP53 complex exon 1 TP53_g.11442C>A NM_000546:g.11442C>A IARC TP53 substitution exon 1 TP53_g.13402_13403ins2 NM_000546:g.13402_13403ins2 IARC TP53 insertion exon 1 TP53_g.12724_12725del NM_000546:g.12724_12725del IARC TP53 deletion exon 1 TP53_g.12402C>G NM_000546:g.12402C>G IARC TP53 substitution exon 1 TP53_g.12406_12408delinsGCG NM_000546:g.12406_12408delinsGCG IARC TP53 complex exon 1 TP53_g.12526G>C NM_000546:g.12526G>C IARC TP53 substitution exon 1 TP53_g.12451A>T NM_000546:g.12451A>T IARC TP53 substitution exon 1 TP53_g.12438A>C NM_000546:g.12438A>C IARC TP53 substitution exon 1 TP53_g.12495G>C NM_000546:g.12495G>C IARC TP53 substitution exon 1 TP53_g.12642T>A NM_000546:g.12642T>A IARC TP53 substitution exon 1 TP53_g.13888G>T NM_000546:g.13888G>T IARC TP53 substitution exon 1 TP53_g.13835G>C NM_000546:g.13835G>C IARC TP53 substitution exon 1 TP53_g.12446C>T NM_000546:g.12446C>T IARC TP53 substitution exon 1 TP53_g.13416C>G NM_000546:g.13416C>G IARC TP53 substitution exon 1 TP53_g.12421C>T NM_000546:g.12421C>T IARC TP53 substitution exon 1 TP53_g.13824del NM_000546:g.13824del IARC TP53 deletion exon 1 TP53_g.13863del NM_000546:g.13863del IARC TP53 deletion exon 1 TP53_g.13814T>C NM_000546:g.13814T>C IARC TP53 substitution exon 1 TP53_g.12529C>G NM_000546:g.12529C>G IARC TP53 substitution exon 1 TP53_g.12514_12525del NM_000546:g.12514_12525del IARC TP53 deletion exon 1 TP53_g.12715_12720del NM_000546:g.12715_12720del IARC TP53 deletion exon 1 TP53_g.12433_12465del NM_000546:g.12433_12465del IARC TP53 deletion exon 1 TP53_g.13400_13405del NM_000546:g.13400_13405del IARC TP53 deletion exon 1 TP53_g.12363del NM_000546:g.12363del IARC TP53 deletion intron 1 TP53_g.11509T>C NM_000546:g.11509T>C IARC TP53 substitution exon 1 TP53_g.11479C>T NM_000546:g.11479C>T IARC TP53 substitution exon 1 TP53_g.11355G>T NM_000546:g.11355G>T IARC TP53 substitution exon 1 TP53_g.11448G>T NM_000546:g.11448G>T IARC TP53 substitution exon 1 TP53_g.12383A>C NM_000546:g.12383A>C IARC TP53 substitution exon 1 TP53_g.12646_12654delinsGCCCCT NM_000546:g.12646_12654delinsGCCCCT IARC TP53 complex exon 1 TP53_g.13318T>A NM_000546:g.13318T>A IARC TP53 substitution exon 1 TP53_g.13760T>A NM_000546:g.13760T>A IARC TP53 substitution intron 1 TP53_g.11484del NM_000546:g.11484del IARC TP53 deletion exon 1 TP53_g.12684T>C NM_000546:g.12684T>C IARC TP53 substitution exon 1 TP53_g.13832A>G NM_000546:g.13832A>G IARC TP53 substitution exon 1 TP53_g.12705T>G NM_000546:g.12705T>G IARC TP53 substitution exon 1 TP53_g.13330C>A NM_000546:g.13330C>A IARC TP53 substitution exon 1 TP53_g.13896_13899del NM_000546:g.13896_13899del IARC TP53 deletion exon 1 TP53_g.16894C>G NM_000546:g.16894C>G IARC TP53 substitution exon 1 TP53_g.13788_13789del NM_000546:g.13788_13789del IARC TP53 deletion exon 1 TP53_g.14022A>T NM_000546:g.14022A>T IARC TP53 substitution exon 1 TP53_g.13391_13426del NM_000546:g.13391_13426del IARC TP53 deletion exon 1 TP53_g.13319G>T NM_000546:g.13319G>T IARC TP53 substitution exon 1 TP53_g.13328del NM_000546:g.13328del IARC TP53 deletion exon 1 TP53_g.12459C>A NM_000546:g.12459C>A IARC TP53 substitution exon 1 TP53_g.13325A>T NM_000546:g.13325A>T IARC TP53 substitution exon 1 TP53_g.12429T>G NM_000546:g.12429T>G IARC TP53 substitution exon 1 TP53_g.13791_13793delinsTAA NM_000546:g.13791_13793delinsTAA IARC TP53 complex exon 1 TP53_g.12486A>C NM_000546:g.12486A>C IARC TP53 substitution exon 1 TP53_g.14006A>T NM_000546:g.14006A>T IARC TP53 substitution exon 1 TP53_g.14030A>T NM_000546:g.14030A>T IARC TP53 substitution exon 1 TP53_g.12510G>T NM_000546:g.12510G>T IARC TP53 substitution exon 1 TP53_g.12513C>T NM_000546:g.12513C>T IARC TP53 substitution exon 1 TP53_g.13378C>A NM_000546:g.13378C>A IARC TP53 substitution exon 1 TP53_g.12546T>A NM_000546:g.12546T>A IARC TP53 substitution exon 1 TP53_g.13343_13344del NM_000546:g.13343_13344del IARC TP53 deletion exon 1 TP53_g.12535_12542del NM_000546:g.12535_12542del IARC TP53 deletion exon 1 TP53_g.13854_13857del NM_000546:g.13854_13857del IARC TP53 deletion exon 1 TP53_g.12718del NM_000546:g.12718del IARC TP53 deletion exon 1 TP53_g.12729T>G NM_000546:g.12729T>G IARC TP53 substitution exon 1 TP53_g.12410G>C NM_000546:g.12410G>C IARC TP53 substitution exon 1 TP53_g.11524C>T NM_000546:g.11524C>T IARC TP53 substitution exon 1 TP53_g.11498C>T NM_000546:g.11498C>T IARC TP53 substitution exon 1 TP53_g.11570C>T NM_000546:g.11570C>T IARC TP53 substitution exon 1 TP53_g.13759G>A NM_000546:g.13759G>A IARC TP53 substitution intron 1 TP53_g.12546_12547ins2 NM_000546:g.12546_12547ins2 IARC TP53 insertion exon 1 TP53_g.11537C>T NM_000546:g.11537C>T IARC TP53 substitution exon 1 TP53_g.11497C>T NM_000546:g.11497C>T IARC TP53 substitution exon 1 TP53_g.11522C>T NM_000546:g.11522C>T IARC TP53 substitution exon 1 TP53_g.11421del NM_000546:g.11421del IARC TP53 deletion exon 1 TP53_g.11556del NM_000546:g.11556del IARC TP53 deletion exon 1 TP53_g.16919A>G NM_000546:g.16919A>G IARC TP53 substitution exon 1 TP53_g.13857_13873del NM_000546:g.13857_13873del IARC TP53 deletion exon 1 TP53_g.14021del NM_000546:g.14021del IARC TP53 deletion exon 1 TP53_g.12679G>A NM_000546:g.12679G>A IARC TP53 substitution exon 1 TP53_g.11018C>T NM_000546:g.11018C>T IARC TP53 substitution exon 1 TP53_g.11590A>T NM_000546:g.11590A>T IARC TP53 substitution exon 1 TP53_g.11599C>T NM_000546:g.11599C>T IARC TP53 substitution exon 1 TP53_g.12366C>T NM_000546:g.12366C>T IARC TP53 substitution exon 1 TP53_g.14032G>A NM_000546:g.14032G>A IARC TP53 substitution exon 1 TP53_g.17945G>A NM_000546:g.17945G>A IARC TP53 substitution exon 1 TP53_g.12560_12561del NM_000546:g.12560_12561del IARC TP53 deletion intron 1 TP53_g.13905C>T NM_000546:g.13905C>T IARC TP53 substitution intron 1 TP53_g.12623T>G NM_000546:g.12623T>G IARC TP53 substitution intron 1 TP53_g.13369_13370ins10 NM_000546:g.13369_13370ins10 IARC TP53 insertion exon 1 TP53_g.12514_12531del NM_000546:g.12514_12531del IARC TP53 deletion exon 1 TP53_g.13895G>C NM_000546:g.13895G>C IARC TP53 substitution exon 1 TP53_g.13292G>C NM_000546:g.13292G>C IARC TP53 substitution intron 1 TP53_g.12719T>G NM_000546:g.12719T>G IARC TP53 substitution exon 1 TP53_g.12481_12483del NM_000546:g.12481_12483del IARC TP53 deletion exon 1 TP53_g.12715_12716del NM_000546:g.12715_12716del IARC TP53 deletion exon 1 TP53_g.13866C>A NM_000546:g.13866C>A IARC TP53 substitution exon 1 TP53_g.14018_14019del NM_000546:g.14018_14019del IARC TP53 deletion exon 1 TP53_g.12681_12682ins2 NM_000546:g.12681_12682ins2 IARC TP53 insertion exon 1 TP53_g.14053T>C NM_000546:g.14053T>C IARC TP53 substitution exon 1 TP53_g.12743T>A NM_000546:g.12743T>A IARC TP53 substitution intron 1 TP53_g.12726C>A NM_000546:g.12726C>A IARC TP53 substitution exon 1 TP53_g.12643_12644del NM_000546:g.12643_12644del IARC TP53 deletion exon 1 TP53_g.13400_13401del NM_000546:g.13400_13401del IARC TP53 deletion exon 1 TP53_g.12378C>T NM_000546:g.12378C>T IARC TP53 substitution exon 1 TP53_g.12384_12385ins1 NM_000546:g.12384_12385ins1 IARC TP53 insertion exon 1 TP53_g.12430_12432delinsTGA NM_000546:g.12430_12432delinsTGA IARC TP53 complex exon 1 TP53_g.12639T>G NM_000546:g.12639T>G IARC TP53 substitution exon 1 TP53_g.14001A>C NM_000546:g.14001A>C IARC TP53 substitution exon 1 TP53_g.13322_13324delinsTA NM_000546:g.13322_13324delinsTA IARC TP53 complex exon 1 TP53_g.13352_13354delinsTAA NM_000546:g.13352_13354delinsTAA IARC TP53 complex exon 1 TP53_g.13874_13875ins1 NM_000546:g.13874_13875ins1 IARC TP53 insertion exon 1 TP53_g.13371_13372delinsAA NM_000546:g.13371_13372delinsAA IARC TP53 complex exon 1 TP53_g.13392T>A NM_000546:g.13392T>A IARC TP53 substitution exon 1 TP53_g.14000_14001delinsTT NM_000546:g.14000_14001delinsTT IARC TP53 complex exon 1 TP53_g.13355_13357delinsCCC NM_000546:g.13355_13357delinsCCC IARC TP53 complex exon 1 TP53_g.14037C>G NM_000546:g.14037C>G IARC TP53 substitution exon 1 TP53_g.14039del NM_000546:g.14039del IARC TP53 deletion exon 1 TP53_g.14039_14040delinsGG NM_000546:g.14039_14040delinsGG IARC TP53 complex exon 1 TP53_g.12395A>C NM_000546:g.12395A>C IARC TP53 substitution exon 1 TP53_g.13996G>C NM_000546:g.13996G>C IARC TP53 substitution exon 1 TP53_g.13368_13369delinsAA NM_000546:g.13368_13369delinsAA IARC TP53 complex exon 1 TP53_g.13893_13895delinsTAA NM_000546:g.13893_13895delinsTAA IARC TP53 complex exon 1 TP53_g.14040T>G NM_000546:g.14040T>G IARC TP53 substitution exon 1 TP53_g.14016C>G NM_000546:g.14016C>G IARC TP53 substitution exon 1 TP53_g.12652_12653delinsTA NM_000546:g.12652_12653delinsTA IARC TP53 complex exon 1 TP53_g.13878C>G NM_000546:g.13878C>G IARC TP53 substitution exon 1 TP53_g.12691_12728del NM_000546:g.12691_12728del IARC TP53 deletion exon 1 TP53_g.12640_12647del NM_000546:g.12640_12647del IARC TP53 deletion exon 1 TP53_g.12433_12511del NM_000546:g.12433_12511del IARC TP53 deletion exon 1 TP53_g.16883A>T NM_000546:g.16883A>T IARC TP53 substitution intron 1 TP53_g.12635del NM_000546:g.12635del IARC TP53 deletion exon 1 TP53_g.11540C>G NM_000546:g.11540C>G IARC TP53 substitution exon 1 TP53_g.12381C>T NM_000546:g.12381C>T IARC TP53 substitution exon 1 TP53_g.12365A>T NM_000546:g.12365A>T IARC TP53 substitution exon 1 TP53_g.13396C>G NM_000546:g.13396C>G IARC TP53 substitution exon 1 TP53_g.12508A>C NM_000546:g.12508A>C IARC TP53 substitution exon 1 TP53_g.13847C>G NM_000546:g.13847C>G IARC TP53 substitution exon 1 TP53_g.13809_13838del NM_000546:g.13809_13838del IARC TP53 deletion exon 1 TP53_g.11526del NM_000546:g.11526del IARC TP53 deletion exon 1 TP53_g.11603_11604ins1 NM_000546:g.11603_11604ins1 IARC TP53 insertion exon 1 TP53_g.13782A>T NM_000546:g.13782A>T IARC TP53 substitution exon 1 TP53_g.13792A>C NM_000546:g.13792A>C IARC TP53 substitution exon 1 TP53_g.13403_13411del NM_000546:g.13403_13411del IARC TP53 deletion exon 1 TP53_g.12409_12417del NM_000546:g.12409_12417del IARC TP53 deletion exon 1 TP53_g.12627A>G NM_000546:g.12627A>G IARC TP53 substitution intron 1 TP53_g.13376_13379del NM_000546:g.13376_13379del IARC TP53 deletion exon 1 TP53_g.13339C>G NM_000546:g.13339C>G IARC TP53 substitution exon 1 TP53_g.13340_13342del NM_000546:g.13340_13342del IARC TP53 deletion exon 1 TP53_g.13331A>C NM_000546:g.13331A>C IARC TP53 substitution exon 1 TP53_g.12637C>G NM_000546:g.12637C>G IARC TP53 substitution exon 1 TP53_g.12733C>A NM_000546:g.12733C>A IARC TP53 substitution exon 1 TP53_g.12729T>A NM_000546:g.12729T>A IARC TP53 substitution exon 1 TP53_g.13378C>G NM_000546:g.13378C>G IARC TP53 substitution exon 1 TP53_g.30018_30031del NM_000546:g.30018_30031del IARC TP53 deletion exon 1 TP53_g.16885del NM_000546:g.16885del IARC TP53 deletion exon 1 TP53_g.11027C>T NM_000546:g.11027C>T IARC TP53 substitution exon 1 TP53_g.11048A>C NM_000546:g.11048A>C IARC TP53 substitution exon 1 TP53_g.11413A>G NM_000546:g.11413A>G IARC TP53 substitution exon 1 TP53_g.11317C>T NM_000546:g.11317C>T IARC TP53 substitution intron 1 TP53_g.11534_11535ins1 NM_000546:g.11534_11535ins1 IARC TP53 insertion exon 1 TP53_g.11543G>T NM_000546:g.11543G>T IARC TP53 substitution exon 1 TP53_g.17962T>C NM_000546:g.17962T>C IARC TP53 substitution exon 1 TP53_g.11547A>G NM_000546:g.11547A>G IARC TP53 substitution exon 1 TP53_g.16992G>A NM_000546:g.16992G>A IARC TP53 substitution intron 1 TP53_g.11082G>A NM_000546:g.11082G>A IARC TP53 substitution intron 1 TP53_g.13306C>T NM_000546:g.13306C>T IARC TP53 substitution intron 1 TP53_g.16929G>A NM_000546:g.16929G>A IARC TP53 substitution exon 1 TP53_g.16979G>A NM_000546:g.16979G>A IARC TP53 substitution exon 1 TP53_g.16878G>A NM_000546:g.16878G>A IARC TP53 substitution intron 1 TP53_g.16974G>A NM_000546:g.16974G>A IARC TP53 substitution exon 1 TP53_g.16984C>T NM_000546:g.16984C>T IARC TP53 substitution exon 1 TP53_g.11035C>T NM_000546:g.11035C>T IARC TP53 substitution exon 1 TP53_g.16982C>T NM_000546:g.16982C>T IARC TP53 substitution exon 1 TP53_g.12432T>C NM_000546:g.12432T>C IARC TP53 substitution exon 1 TP53_g.13884G>A NM_000546:g.13884G>A IARC TP53 substitution exon 1 TP53_g.12444G>C NM_000546:g.12444G>C IARC TP53 substitution exon 1 TP53_g.12415G>C NM_000546:g.12415G>C IARC TP53 substitution exon 1 TP53_g.12688G>C NM_000546:g.12688G>C IARC TP53 substitution exon 1 TP53_g.12719T>A NM_000546:g.12719T>A IARC TP53 substitution exon 1 TP53_g.12466A>T NM_000546:g.12466A>T IARC TP53 substitution exon 1 TP53_g.12498G>T NM_000546:g.12498G>T IARC TP53 substitution exon 1 TP53_g.12690T>C NM_000546:g.12690T>C IARC TP53 substitution exon 1 TP53_g.12417G>C NM_000546:g.12417G>C IARC TP53 substitution exon 1 TP53_g.12681G>A NM_000546:g.12681G>A IARC TP53 substitution exon 1 TP53_g.12382_12392del NM_000546:g.12382_12392del IARC TP53 deletion exon 1 TP53_g.12664G>T NM_000546:g.12664G>T IARC TP53 substitution exon 1 TP53_g.16891G>T NM_000546:g.16891G>T IARC TP53 substitution exon 1 TP53_g.12375_12376ins6 NM_000546:g.12375_12376ins6 IARC TP53 insertion exon 1 TP53_g.11431C>G NM_000546:g.11431C>G IARC TP53 substitution exon 1 TP53_g.12430_12432delinsGG NM_000546:g.12430_12432delinsGG IARC TP53 complex exon 1 TP53_g.13764_13769delinsCCTGAT NM_000546:g.13764_13769delinsCCTGAT IARC TP53 complex exon 1 TP53_g.13866_13890del NM_000546:g.13866_13890del IARC TP53 deletion exon 1 TP53_g.13830_13838del NM_000546:g.13830_13838del IARC TP53 deletion exon 1 TP53_g.13796_13797delinsAA NM_000546:g.13796_13797delinsAA IARC TP53 complex exon 1 TP53_g.13335A>T NM_000546:g.13335A>T IARC TP53 substitution exon 1 TP53_g.12546T>C NM_000546:g.12546T>C IARC TP53 substitution exon 1 TP53_g.12544_12561del NM_000546:g.12544_12561del IARC TP53 deletion exon 1 TP53_g.13365_13366delinsCA NM_000546:g.13365_13366delinsCA IARC TP53 complex exon 1 TP53_g.12412C>A NM_000546:g.12412C>A IARC TP53 substitution exon 1 TP53_g.12420G>T NM_000546:g.12420G>T IARC TP53 substitution exon 1 TP53_g.12403_12411del NM_000546:g.12403_12411del IARC TP53 deletion exon 1 TP53_g.12514_12519del NM_000546:g.12514_12519del IARC TP53 deletion exon 1 TP53_g.12460_12461delinsTA NM_000546:g.12460_12461delinsTA IARC TP53 complex exon 1 TP53_g.12443C>G NM_000546:g.12443C>G IARC TP53 substitution exon 1 TP53_g.16901G>A NM_000546:g.16901G>A IARC TP53 substitution exon 1 TP53_g.13356G>A NM_000546:g.13356G>A IARC TP53 substitution exon 1 TP53_g.11547_11612del NM_000546:g.11547_11612del IARC TP53 deletion exon 1 TP53_g.11557T>G NM_000546:g.11557T>G IARC TP53 substitution exon 1 TP53_g.11593C>T NM_000546:g.11593C>T IARC TP53 substitution exon 1 TP53_g.12458T>C NM_000546:g.12458T>C IARC TP53 substitution exon 1 TP53_g.12731A>C NM_000546:g.12731A>C IARC TP53 substitution exon 1 TP53_g.13390C>T NM_000546:g.13390C>T IARC TP53 substitution exon 1 TP53_g.13799T>A NM_000546:g.13799T>A IARC TP53 substitution exon 1 TP53_g.13866_13867delinsTG NM_000546:g.13866_13867delinsTG IARC TP53 complex exon 1 TP53_g.13847C>A NM_000546:g.13847C>A IARC TP53 substitution exon 1 TP53_g.13883A>T NM_000546:g.13883A>T IARC TP53 substitution exon 1 TP53_g.13852A>T NM_000546:g.13852A>T IARC TP53 substitution exon 1 TP53_g.13847C>T NM_000546:g.13847C>T IARC TP53 substitution exon 1 TP53_g.12704T>A NM_000546:g.12704T>A IARC TP53 substitution exon 1 TP53_g.13385_13390del NM_000546:g.13385_13390del IARC TP53 deletion exon 1 TP53_g.13993A>G NM_000546:g.13993A>G IARC TP53 substitution exon 1 TP53_g.12439_12444del NM_000546:g.12439_12444del IARC TP53 deletion exon 1 TP53_g.12511del NM_000546:g.12511del IARC TP53 deletion exon 1 TP53_g.13383_13384delinsAT NM_000546:g.13383_13384delinsAT IARC TP53 complex exon 1 TP53_g.11421_11481del NM_000546:g.11421_11481del IARC TP53 deletion exon 1 TP53_g.11553del NM_000546:g.11553del IARC TP53 deletion exon 1 TP53_g.11558_11559ins14 NM_000546:g.11558_11559ins14 IARC TP53 insertion exon 1 TP53_g.11600_11601ins5 NM_000546:g.11600_11601ins5 IARC TP53 insertion exon 1 TP53_g.13793_13794ins2 NM_000546:g.13793_13794ins2 IARC TP53 insertion exon 1 TP53_g.13848del NM_000546:g.13848del IARC TP53 deletion exon 1 TP53_g.13833_13844del NM_000546:g.13833_13844del IARC TP53 deletion exon 1 TP53_g.16915_16926del NM_000546:g.16915_16926del IARC TP53 deletion exon 1 TP53_g.11608T>G NM_000546:g.11608T>G IARC TP53 substitution intron 1 TP53_g.12362A>C NM_000546:g.12362A>C IARC TP53 substitution intron 1 TP53_g.11415_11418del NM_000546:g.11415_11418del IARC TP53 deletion exon 1 TP53_g.12700del NM_000546:g.12700del IARC TP53 deletion exon 1 TP53_g.11513_11514ins17 NM_000546:g.11513_11514ins17 IARC TP53 insertion exon 1 TP53_g.14060_14061del NM_000546:g.14060_14061del IARC TP53 deletion exon 1 TP53_g.13806_13861del NM_000546:g.13806_13861del IARC TP53 deletion exon 1 TP53_g.11484_11499del NM_000546:g.11484_11499del IARC TP53 deletion exon 1 TP53_g.11486_11487ins4 NM_000546:g.11486_11487ins4 IARC TP53 insertion exon 1 TP53_g.12634_12635del NM_000546:g.12634_12635del IARC TP53 deletion exon 1 TP53_g.14015_14039del NM_000546:g.14015_14039del IARC TP53 deletion exon 1 TP53_g.13829_13830ins1 NM_000546:g.13829_13830ins1 IARC TP53 insertion exon 1 TP53_g.13429C>T NM_000546:g.13429C>T IARC TP53 substitution intron 1 TP53_g.13376del NM_000546:g.13376del IARC TP53 deletion exon 1 TP53_g.30015_30037del NM_000546:g.30015_30037del IARC TP53 deletion exon 1 TP53_g.12384G>A NM_000546:g.12384G>A IARC TP53 substitution exon 1 TP53_g.12374C>T NM_000546:g.12374C>T IARC TP53 substitution exon 1 TP53_g.12699C>T NM_000546:g.12699C>T IARC TP53 substitution exon 1 TP53_g.12654C>T NM_000546:g.12654C>T IARC TP53 substitution exon 1 TP53_g.12655_12656delinsTC NM_000546:g.12655_12656delinsTC IARC TP53 complex exon 1 TP53_g.12717G>A NM_000546:g.12717G>A IARC TP53 substitution exon 1 TP53_g.13414C>T NM_000546:g.13414C>T IARC TP53 substitution exon 1 TP53_g.13333C>T NM_000546:g.13333C>T IARC TP53 substitution exon 1 TP53_g.13406C>T NM_000546:g.13406C>T IARC TP53 substitution exon 1 TP53_g.13808C>T NM_000546:g.13808C>T IARC TP53 substitution exon 1 TP53_g.13880C>T NM_000546:g.13880C>T IARC TP53 substitution exon 1 TP53_g.12436A>G NM_000546:g.12436A>G IARC TP53 substitution exon 1 TP53_g.13334del NM_000546:g.13334del IARC TP53 deletion exon 1 TP53_g.14046G>C NM_000546:g.14046G>C IARC TP53 substitution exon 1 TP53_g.11592del NM_000546:g.11592del IARC TP53 deletion exon 1 TP53_g.13415T>C NM_000546:g.13415T>C IARC TP53 substitution exon 1 TP53_g.12418_12450del NM_000546:g.12418_12450del IARC TP53 deletion exon 1 TP53_g.14009A>T NM_000546:g.14009A>T IARC TP53 substitution exon 1 TP53_g.12536_12562del NM_000546:g.12536_12562del IARC TP53 deletion exon 1 TP53_g.13825_13826delinsAT NM_000546:g.13825_13826delinsAT IARC TP53 complex exon 1 TP53_g.12360A>G NM_000546:g.12360A>G IARC TP53 substitution intron 1 TP53_g.12712_12721del NM_000546:g.12712_12721del IARC TP53 deletion exon 1 TP53_g.12709del NM_000546:g.12709del IARC TP53 deletion exon 1 TP53_g.12679_12680del NM_000546:g.12679_12680del IARC TP53 deletion exon 1 TP53_g.12480_12481delinsAT NM_000546:g.12480_12481delinsAT IARC TP53 complex exon 1 TP53_g.16895G>A NM_000546:g.16895G>A IARC TP53 substitution exon 1 TP53_g.11366_11367ins16 NM_000546:g.11366_11367ins16 IARC TP53 insertion exon 1 TP53_g.12523_12540del NM_000546:g.12523_12540del IARC TP53 deletion exon 1 TP53_g.13892_13893ins23 NM_000546:g.13892_13893ins23 IARC TP53 insertion exon 1 TP53_g.16912del NM_000546:g.16912del IARC TP53 deletion exon 1 TP53_g.12463_12464del NM_000546:g.12463_12464del IARC TP53 deletion exon 1 TP53_g.13800_13801del NM_000546:g.13800_13801del IARC TP53 deletion exon 1 TP53_g.13390_13391ins3 NM_000546:g.13390_13391ins3 IARC TP53 insertion exon 1 TP53_g.11332C>T NM_000546:g.11332C>T IARC TP53 substitution exon 1 TP53_g.11460_11461del NM_000546:g.11460_11461del IARC TP53 deletion exon 1 TP53_g.11488C>T NM_000546:g.11488C>T IARC TP53 substitution exon 1 TP53_g.11567C>T NM_000546:g.11567C>T IARC TP53 substitution exon 1 TP53_g.12403_12404del NM_000546:g.12403_12404del IARC TP53 deletion exon 1 TP53_g.12457_12464del NM_000546:g.12457_12464del IARC TP53 deletion exon 1 TP53_g.12549T>A NM_000546:g.12549T>A IARC TP53 substitution intron 1 TP53_g.12661_12671del NM_000546:g.12661_12671del IARC TP53 deletion exon 1 TP53_g.13388_13389del NM_000546:g.13388_13389del IARC TP53 deletion exon 1 TP53_g.13872_13883del NM_000546:g.13872_13883del IARC TP53 deletion exon 1 TP53_g.14029_14030ins4 NM_000546:g.14029_14030ins4 IARC TP53 insertion exon 1 TP53_g.11328del NM_000546:g.11328del IARC TP53 deletion exon 1 TP53_g.11352del NM_000546:g.11352del IARC TP53 deletion exon 1 TP53_g.11469_11475del NM_000546:g.11469_11475del IARC TP53 deletion exon 1 TP53_g.11517_11518del NM_000546:g.11517_11518del IARC TP53 deletion exon 1 TP53_g.12688_12695del NM_000546:g.12688_12695del IARC TP53 deletion exon 1 TP53_g.12712_12715del NM_000546:g.12712_12715del IARC TP53 deletion exon 1 TP53_g.12739del NM_000546:g.12739del IARC TP53 deletion exon 1 TP53_g.13390_13391ins1 NM_000546:g.13390_13391ins1 IARC TP53 insertion exon 1 TP53_g.13415_13417del NM_000546:g.13415_13417del IARC TP53 deletion exon 1 TP53_g.13806_13821del NM_000546:g.13806_13821del IARC TP53 deletion exon 1 TP53_g.13848_13863del NM_000546:g.13848_13863del IARC TP53 deletion exon 1 TP53_g.13878_13881del NM_000546:g.13878_13881del IARC TP53 deletion exon 1 TP53_g.12386T>G NM_000546:g.12386T>G IARC TP53 substitution exon 1 TP53_g.13844T>A NM_000546:g.13844T>A IARC TP53 substitution exon 1 TP53_g.12457_12462del NM_000546:g.12457_12462del IARC TP53 deletion exon 1 TP53_g.12690T>A NM_000546:g.12690T>A IARC TP53 substitution exon 1 TP53_g.12447_12448ins3 NM_000546:g.12447_12448ins3 IARC TP53 insertion exon 1 TP53_g.12483_12484ins9 NM_000546:g.12483_12484ins9 IARC TP53 insertion exon 1 TP53_g.11605C>A NM_000546:g.11605C>A IARC TP53 substitution exon 1 TP53_g.11417A>G NM_000546:g.11417A>G IARC TP53 substitution exon 1 TP53_g.11393C>T NM_000546:g.11393C>T IARC TP53 substitution exon 1 TP53_g.11482C>G NM_000546:g.11482C>G IARC TP53 substitution exon 1 TP53_g.13314G>C NM_000546:g.13314G>C IARC TP53 substitution exon 1 TP53_g.14027A>G NM_000546:g.14027A>G IARC TP53 substitution exon 1 TP53_g.12730del NM_000546:g.12730del IARC TP53 deletion exon 1 TP53_g.12393_12394ins3 NM_000546:g.12393_12394ins3 IARC TP53 insertion exon 1 TP53_g.13771T>C NM_000546:g.13771T>C IARC TP53 substitution exon 1 TP53_g.13791_13792delinsCC NM_000546:g.13791_13792delinsCC IARC TP53 complex exon 1 TP53_g.13986_13987ins1 NM_000546:g.13986_13987ins1 IARC TP53 insertion intron 1 TP53_g.11559C>A NM_000546:g.11559C>A IARC TP53 substitution exon 1 TP53_g.13815_13816del NM_000546:g.13815_13816del IARC TP53 deletion exon 1 TP53_g.13874_13875ins10 NM_000546:g.13874_13875ins10 IARC TP53 insertion exon 1 TP53_g.13372_13373ins1 NM_000546:g.13372_13373ins1 IARC TP53 insertion exon 1 TP53_g.30014del NM_000546:g.30014del IARC TP53 deletion exon 1 TP53_g.30016_30017ins1 NM_000546:g.30016_30017ins1 IARC TP53 insertion exon 1 TP53_g.12370C>G NM_000546:g.12370C>G IARC TP53 substitution exon 1 TP53_g.30018del NM_000546:g.30018del IARC TP53 deletion exon 1 TP53_g.30015del NM_000546:g.30015del IARC TP53 deletion exon 1 TP53_g.13310G>T NM_000546:g.13310G>T IARC TP53 substitution exon 1 TP53_g.13418_13426del NM_000546:g.13418_13426del IARC TP53 deletion exon 1 TP53_g.13376_13387del NM_000546:g.13376_13387del IARC TP53 deletion exon 1 TP53_g.14037C>T NM_000546:g.14037C>T IARC TP53 substitution exon 1 TP53_g.11611G>A NM_000546:g.11611G>A IARC TP53 substitution intron 1 TP53_g.11327G>A NM_000546:g.11327G>A IARC TP53 substitution intron 1 TP53_g.14030_14032del NM_000546:g.14030_14032del IARC TP53 deletion exon 1 TP53_g.13333_13334ins11 NM_000546:g.13333_13334ins11 IARC TP53 insertion exon 1 TP53_g.12733del NM_000546:g.12733del IARC TP53 deletion exon 1 TP53_g.12487_12496del NM_000546:g.12487_12496del IARC TP53 deletion exon 1 TP53_g.12664_12694del NM_000546:g.12664_12694del IARC TP53 deletion exon 1 TP53_g.13325_13334del NM_000546:g.13325_13334del IARC TP53 deletion exon 1 TP53_g.13866_13887del NM_000546:g.13866_13887del IARC TP53 deletion exon 1 TP53_g.13887_13889delinsGT NM_000546:g.13887_13889delinsGT IARC TP53 complex exon 1 TP53_g.12403A>T NM_000546:g.12403A>T IARC TP53 substitution exon 1 TP53_g.16906_16926del NM_000546:g.16906_16926del IARC TP53 deletion exon 1 TP53_g.16901G>C NM_000546:g.16901G>C IARC TP53 substitution exon 1 TP53_g.13894A>T NM_000546:g.13894A>T IARC TP53 substitution exon 1 TP53_g.13812_13813del NM_000546:g.13812_13813del IARC TP53 deletion exon 1 TP53_g.12547_12563del NM_000546:g.12547_12563del IARC TP53 deletion exon 1 TP53_g.11459A>T NM_000546:g.11459A>T IARC TP53 substitution exon 1 TP53_g.11517T>C NM_000546:g.11517T>C IARC TP53 substitution exon 1 TP53_g.13994C>A NM_000546:g.13994C>A IARC TP53 substitution exon 1 TP53_g.16903T>A NM_000546:g.16903T>A IARC TP53 substitution exon 1 TP53_g.12738_12739ins6 NM_000546:g.12738_12739ins6 IARC TP53 insertion exon 1 TP53_g.13313_13314del NM_000546:g.13313_13314del IARC TP53 deletion exon 1 TP53_g.12366_12370delinsA NM_000546:g.12366_12370delinsA IARC TP53 complex exon 1 TP53_g.13366_13367ins9 NM_000546:g.13366_13367ins9 IARC TP53 insertion exon 1 TP53_g.13790_13791ins6 NM_000546:g.13790_13791ins6 IARC TP53 insertion exon 1 TP53_g.12445del NM_000546:g.12445del IARC TP53 deletion exon 1 TP53_g.13818_13820del NM_000546:g.13818_13820del IARC TP53 deletion exon 1 TP53_g.12401_12402delinsTA NM_000546:g.12401_12402delinsTA IARC TP53 complex exon 1 TP53_g.12454_12456del NM_000546:g.12454_12456del IARC TP53 deletion exon 1 TP53_g.13322_13328del NM_000546:g.13322_13328del IARC TP53 deletion exon 1 TP53_g.13878_13879del NM_000546:g.13878_13879del IARC TP53 deletion exon 1 TP53_g.12423G>A NM_000546:g.12423G>A IARC TP53 substitution exon 1 TP53_g.12521A>G NM_000546:g.12521A>G IARC TP53 substitution exon 1 TP53_g.12382_12402del NM_000546:g.12382_12402del IARC TP53 deletion exon 1 TP53_g.12431A>T NM_000546:g.12431A>T IARC TP53 substitution exon 1 TP53_g.13325del NM_000546:g.13325del IARC TP53 deletion exon 1 TP53_g.11566G>A NM_000546:g.11566G>A IARC TP53 substitution exon 1 TP53_g.12550G>A NM_000546:g.12550G>A IARC TP53 substitution intron 1 TP53_g.12687G>A NM_000546:g.12687G>A IARC TP53 substitution exon 1 TP53_g.12441C>A NM_000546:g.12441C>A IARC TP53 substitution exon 1 TP53_g.12541A>T NM_000546:g.12541A>T IARC TP53 substitution exon 1 TP53_g.12543_12544ins1 NM_000546:g.12543_12544ins1 IARC TP53 insertion exon 1 TP53_g.12538_12539ins1 NM_000546:g.12538_12539ins1 IARC TP53 insertion exon 1 TP53_g.12628_12629ins1 NM_000546:g.12628_12629ins1 IARC TP53 insertion exon 1 TP53_g.13339C>T NM_000546:g.13339C>T IARC TP53 substitution exon 1 TP53_g.13339_13340ins1 NM_000546:g.13339_13340ins1 IARC TP53 insertion exon 1 TP53_g.13773C>A NM_000546:g.13773C>A IARC TP53 substitution exon 1 TP53_g.17940_17941ins2 NM_000546:g.17940_17941ins2 IARC TP53 insertion exon 1 TP53_g.12657_12658ins2 NM_000546:g.12657_12658ins2 IARC TP53 insertion exon 1 TP53_g.13349_13350delinsCA NM_000546:g.13349_13350delinsCA IARC TP53 complex exon 1 TP53_g.12426G>C NM_000546:g.12426G>C IARC TP53 substitution exon 1 TP53_g.12519_12520delinsAT NM_000546:g.12519_12520delinsAT IARC TP53 complex exon 1 TP53_g.13322_13323delinsAA NM_000546:g.13322_13323delinsAA IARC TP53 complex exon 1 TP53_g.17917A>C NM_000546:g.17917A>C IARC TP53 substitution exon 1 TP53_g.12434_12435delinsTT NM_000546:g.12434_12435delinsTT IARC TP53 complex exon 1 TP53_g.13781_13782ins13 NM_000546:g.13781_13782ins13 IARC TP53 insertion exon 1 TP53_g.12495_12496ins2 NM_000546:g.12495_12496ins2 IARC TP53 insertion exon 1 TP53_g.30005_30006del NM_000546:g.30005_30006del IARC TP53 deletion intron 1 TP53_g.12702_12703ins3 NM_000546:g.12702_12703ins3 IARC TP53 insertion exon 1 TP53_g.12479A>C NM_000546:g.12479A>C IARC TP53 substitution exon 1 TP53_g.11411A>T NM_000546:g.11411A>T IARC TP53 substitution exon 1 TP53_g.11508C>A NM_000546:g.11508C>A IARC TP53 substitution exon 1 TP53_g.14029G>T NM_000546:g.14029G>T IARC TP53 substitution exon 1 TP53_g.12446C>A NM_000546:g.12446C>A IARC TP53 substitution exon 1 TP53_g.11560del NM_000546:g.11560del IARC TP53 deletion exon 1 TP53_g.12424T>G NM_000546:g.12424T>G IARC TP53 substitution exon 1 TP53_g.11449T>A NM_000546:g.11449T>A IARC TP53 substitution exon 1 TP53_g.12483G>T NM_000546:g.12483G>T IARC TP53 substitution exon 1 TP53_g.14010G>A NM_000546:g.14010G>A IARC TP53 substitution exon 1 TP53_g.30003del NM_000546:g.30003del IARC TP53 deletion intron 1 TP53_g.12394_12405del NM_000546:g.12394_12405del IARC TP53 deletion exon 1 TP53_g.13882C>A NM_000546:g.13882C>A IARC TP53 substitution exon 1 TP53_g.13313_13314delinsAA NM_000546:g.13313_13314delinsAA IARC TP53 complex exon 1 TP53_g.13880_13881delinsTT NM_000546:g.13880_13881delinsTT IARC TP53 complex exon 1 TP53_g.13357_13358delinsCC NM_000546:g.13357_13358delinsCC IARC TP53 complex exon 1 TP53_g.13853G>T NM_000546:g.13853G>T IARC TP53 substitution exon 1 TP53_g.12607A>G NM_000546:g.12607A>G IARC TP53 substitution intron 1 TP53_g.13793_13794ins1 NM_000546:g.13793_13794ins1 IARC TP53 insertion exon 1 TP53_g.13790_13791ins1 NM_000546:g.13790_13791ins1 IARC TP53 insertion exon 1 TP53_g.11406_11407delinsAA NM_000546:g.11406_11407delinsAA IARC TP53 complex exon 1 TP53_g.12519_12520delinsTT NM_000546:g.12519_12520delinsTT IARC TP53 complex exon 1 TP53_g.12518_12519delinsAT NM_000546:g.12518_12519delinsAT IARC TP53 complex exon 1 TP53_g.13419_13420delinsAA NM_000546:g.13419_13420delinsAA IARC TP53 complex exon 1 TP53_g.13370_13371delinsTT NM_000546:g.13370_13371delinsTT IARC TP53 complex exon 1 TP53_g.30002_30025del NM_000546:g.30002_30025del IARC TP53 deletion intron 1 TP53_g.12493_12494ins1 NM_000546:g.12493_12494ins1 IARC TP53 insertion exon 1 TP53_g.13364A>C NM_000546:g.13364A>C IARC TP53 substitution exon 1 TP53_g.16934T>A NM_000546:g.16934T>A IARC TP53 substitution exon 1 TP53_g.13869C>G NM_000546:g.13869C>G IARC TP53 substitution exon 1 TP53_g.12394_12409del NM_000546:g.12394_12409del IARC TP53 deletion exon 1 TP53_g.12432_12433ins1 NM_000546:g.12432_12433ins1 IARC TP53 insertion exon 1 TP53_g.12711_12712del NM_000546:g.12711_12712del IARC TP53 deletion exon 1 TP53_g.13318_13319ins1 NM_000546:g.13318_13319ins1 IARC TP53 insertion exon 1 TP53_g.14054_14059del NM_000546:g.14054_14059del IARC TP53 deletion exon 1 TP53_g.16904_16905ins18 NM_000546:g.16904_16905ins18 IARC TP53 insertion exon 1 TP53_g.13369_13370ins1 NM_000546:g.13369_13370ins1 IARC TP53 insertion exon 1 TP53_g.12480G>C NM_000546:g.12480G>C IARC TP53 substitution exon 1 TP53_g.11340T>C NM_000546:g.11340T>C IARC TP53 substitution exon 1 TP53_g.13340A>C NM_000546:g.13340A>C IARC TP53 substitution exon 1 TP53_g.12441C>G NM_000546:g.12441C>G IARC TP53 substitution exon 1 TP53_g.13817G>T NM_000546:g.13817G>T IARC TP53 substitution exon 1 TP53_g.12404_12405ins1 NM_000546:g.12404_12405ins1 IARC TP53 insertion exon 1 TP53_g.12758G>C NM_000546:g.12758G>C IARC TP53 substitution intron 1 TP53_g.13329C>A NM_000546:g.13329C>A IARC TP53 substitution exon 1 TP53_g.13776_13793del NM_000546:g.13776_13793del IARC TP53 deletion exon 1 TP53_g.12392_12393ins1 NM_000546:g.12392_12393ins1 IARC TP53 insertion exon 1 TP53_g.11447_11448ins1 NM_000546:g.11447_11448ins1 IARC TP53 insertion exon 1 TP53_g.13315C>A NM_000546:g.13315C>A IARC TP53 substitution exon 1 TP53_g.13886G>C NM_000546:g.13886G>C IARC TP53 substitution exon 1 TP53_g.12678G>C NM_000546:g.12678G>C IARC TP53 substitution exon 1 TP53_g.12402C>A NM_000546:g.12402C>A IARC TP53 substitution exon 1 TP53_g.14006del NM_000546:g.14006del IARC TP53 deletion exon 1 TP53_g.12450_12451ins1 NM_000546:g.12450_12451ins1 IARC TP53 insertion exon 1 TP53_g.12472_12474delinsGTT NM_000546:g.12472_12474delinsGTT IARC TP53 complex exon 1 TP53_g.12377T>C NM_000546:g.12377T>C IARC TP53 substitution exon 1 TP53_g.13377_13378delinsTA NM_000546:g.13377_13378delinsTA IARC TP53 complex exon 1 TP53_g.30002_30027del NM_000546:g.30002_30027del IARC TP53 deletion intron 1 TP53_g.11457G>A NM_000546:g.11457G>A IARC TP53 substitution exon 1 TP53_g.12385A>G NM_000546:g.12385A>G IARC TP53 substitution exon 1 TP53_g.11453C>T NM_000546:g.11453C>T IARC TP53 substitution exon 1 TP53_g.13354C>T NM_000546:g.13354C>T IARC TP53 substitution exon 1 TP53_g.12775G>A NM_000546:g.12775G>A IARC TP53 substitution intron 1 TP53_g.13424G>A NM_000546:g.13424G>A IARC TP53 substitution intron 1 TP53_g.11382_11385del NM_000546:g.11382_11385del IARC TP53 deletion exon 1 TP53_g.13882_13886del NM_000546:g.13882_13886del IARC TP53 deletion exon 1 TP53_g.11458C>G NM_000546:g.11458C>G IARC TP53 substitution exon 1 TP53_g.13382A>C NM_000546:g.13382A>C IARC TP53 substitution exon 1 TP53_g.11589_11718del NM_000546:g.11589_11718del IARC TP53 deletion exon 1 TP53_g.11444C>T NM_000546:g.11444C>T IARC TP53 substitution exon 1 TP53_g.11444_11445ins1 NM_000546:g.11444_11445ins1 IARC TP53 insertion exon 1 TP53_g.11525T>A NM_000546:g.11525T>A IARC TP53 substitution exon 1 TP53_g.12433_12434del NM_000546:g.12433_12434del IARC TP53 deletion exon 1 TP53_g.13866del NM_000546:g.13866del IARC TP53 deletion exon 1 TP53_g.13421T>G NM_000546:g.13421T>G IARC TP53 substitution intron 1 TP53_g.12536C>A NM_000546:g.12536C>A IARC TP53 substitution exon 1 TP53_g.12448G>T NM_000546:g.12448G>T IARC TP53 substitution exon 1 TP53_g.12541A>G NM_000546:g.12541A>G IARC TP53 substitution exon 1 TP53_g.12661_12662ins1 NM_000546:g.12661_12662ins1 IARC TP53 insertion exon 1 TP53_g.12691G>C NM_000546:g.12691G>C IARC TP53 substitution exon 1 TP53_g.14064A>C NM_000546:g.14064A>C IARC TP53 substitution exon 1 TP53_g.14030_14031ins2 NM_000546:g.14030_14031ins2 IARC TP53 insertion exon 1 TP53_g.14064_14065delinsCA NM_000546:g.14064_14065delinsCA IARC TP53 complex exon 1 TP53_g.12435_12436ins8 NM_000546:g.12435_12436ins8 IARC TP53 insertion exon 1 TP53_g.12444_12445ins8 NM_000546:g.12444_12445ins8 IARC TP53 insertion exon 1 TP53_g.12460_12472del NM_000546:g.12460_12472del IARC TP53 deletion exon 1 TP53_g.12499_12504del NM_000546:g.12499_12504del IARC TP53 deletion exon 1 TP53_g.13309_13310ins6 NM_000546:g.13309_13310ins6 IARC TP53 insertion exon 1 TP53_g.13360_13361ins3 NM_000546:g.13360_13361ins3 IARC TP53 insertion exon 1 TP53_g.13411_13412ins1 NM_000546:g.13411_13412ins1 IARC TP53 insertion exon 1 TP53_g.13775_13776ins10 NM_000546:g.13775_13776ins10 IARC TP53 insertion exon 1 TP53_g.13824_13841del NM_000546:g.13824_13841del IARC TP53 deletion exon 1 TP53_g.13827_13846del NM_000546:g.13827_13846del IARC TP53 deletion exon 1 TP53_g.12430_12432del NM_000546:g.12430_12432del IARC TP53 deletion exon 1 TP53_g.12457_12474del NM_000546:g.12457_12474del IARC TP53 deletion exon 1 TP53_g.12475_12493del NM_000546:g.12475_12493del IARC TP53 deletion exon 1 TP53_g.12487_12491del NM_000546:g.12487_12491del IARC TP53 deletion exon 1 TP53_g.13345_13346ins6 NM_000546:g.13345_13346ins6 IARC TP53 insertion exon 1 TP53_g.13351_13352ins4 NM_000546:g.13351_13352ins4 IARC TP53 insertion exon 1 TP53_g.13818_13823del NM_000546:g.13818_13823del IARC TP53 deletion exon 1 TP53_g.13827_13845del NM_000546:g.13827_13845del IARC TP53 deletion exon 1 TP53_g.14045G>T NM_000546:g.14045G>T IARC TP53 substitution exon 1 TP53_g.14039_14056del NM_000546:g.14039_14056del IARC TP53 deletion exon 1 TP53_g.12726C>T NM_000546:g.12726C>T IARC TP53 substitution exon 1 TP53_g.12540_12541ins2 NM_000546:g.12540_12541ins2 IARC TP53 insertion exon 1 TP53_g.11384_11385ins3 NM_000546:g.11384_11385ins3 IARC TP53 insertion exon 1 TP53_g.12413C>A NM_000546:g.12413C>A IARC TP53 substitution exon 1 TP53_g.12477_12489del NM_000546:g.12477_12489del IARC TP53 deletion exon 1 TP53_g.13350_13356del NM_000546:g.13350_13356del IARC TP53 deletion exon 1 TP53_g.11530A>G NM_000546:g.11530A>G IARC TP53 substitution exon 1 TP53_g.12406_12419del NM_000546:g.12406_12419del IARC TP53 deletion exon 1 TP53_g.12515_12516del NM_000546:g.12515_12516del IARC TP53 deletion exon 1 TP53_g.12631_12658del NM_000546:g.12631_12658del IARC TP53 deletion exon 1 TP53_g.13339_13340ins9 NM_000546:g.13339_13340ins9 IARC TP53 insertion exon 1 TP53_g.13385_13386del NM_000546:g.13385_13386del IARC TP53 deletion exon 1 TP53_g.13766_13767ins9 NM_000546:g.13766_13767ins9 IARC TP53 insertion exon 1 TP53_g.13796_13797ins25 NM_000546:g.13796_13797ins25 IARC TP53 insertion exon 1 TP53_g.14061T>G NM_000546:g.14061T>G IARC TP53 substitution exon 1 TP53_g.12517_12535del NM_000546:g.12517_12535del IARC TP53 deletion exon 1 TP53_g.12542G>A NM_000546:g.12542G>A IARC TP53 substitution exon 1 TP53_g.12489_12490delinsTG NM_000546:g.12489_12490delinsTG IARC TP53 complex exon 1 TP53_g.12521A>T NM_000546:g.12521A>T IARC TP53 substitution exon 1 TP53_g.12396A>C NM_000546:g.12396A>C IARC TP53 substitution exon 1 TP53_g.12648_12649ins1 NM_000546:g.12648_12649ins1 IARC TP53 insertion exon 1 TP53_g.12469_12470delinsTT NM_000546:g.12469_12470delinsTT IARC TP53 complex exon 1 TP53_g.13357_13358ins1 NM_000546:g.13357_13358ins1 IARC TP53 insertion exon 1 TP53_g.13403A>C NM_000546:g.13403A>C IARC TP53 substitution exon 1 TP53_g.14052_14053del NM_000546:g.14052_14053del IARC TP53 deletion exon 1 TP53_g.13873A>T NM_000546:g.13873A>T IARC TP53 substitution exon 1 TP53_g.11419del NM_000546:g.11419del IARC TP53 deletion exon 1 TP53_g.13842_13846del NM_000546:g.13842_13846del IARC TP53 deletion exon 1 TP53_g.13872_13876del NM_000546:g.13872_13876del IARC TP53 deletion exon 1 TP53_g.12459_12460del NM_000546:g.12459_12460del IARC TP53 deletion exon 1 TP53_g.13416_13417ins1 NM_000546:g.13416_13417ins1 IARC TP53 insertion exon 1 TP53_g.11466_11495del NM_000546:g.11466_11495del IARC TP53 deletion exon 1 TP53_g.12388_12389ins1 NM_000546:g.12388_12389ins1 IARC TP53 insertion exon 1 TP53_g.12474C>A NM_000546:g.12474C>A IARC TP53 substitution exon 1 TP53_g.12350_12372del NM_000546:g.12350_12372del IARC TP53 deletion intron 1 TP53_g.13274del NM_000546:g.13274del IARC TP53 deletion intron 1 TP53_g.12730G>C NM_000546:g.12730G>C IARC TP53 substitution exon 1 TP53_g.12660G>T NM_000546:g.12660G>T IARC TP53 substitution exon 1 TP53_g.12633G>A NM_000546:g.12633G>A IARC TP53 substitution exon 1 TP53_g.12682_12683ins1 NM_000546:g.12682_12683ins1 IARC TP53 insertion exon 1 TP53_g.11568_11586del NM_000546:g.11568_11586del IARC TP53 deletion exon 1 TP53_g.12415_12421del NM_000546:g.12415_12421del IARC TP53 deletion exon 1 TP53_g.12431_12432del NM_000546:g.12431_12432del IARC TP53 deletion exon 1 TP53_g.12452_12466del NM_000546:g.12452_12466del IARC TP53 deletion exon 1 TP53_g.12460_12461delinsTT NM_000546:g.12460_12461delinsTT IARC TP53 complex exon 1 TP53_g.12498_12505del NM_000546:g.12498_12505del IARC TP53 deletion exon 1 TP53_g.13412_13452del NM_000546:g.13412_13452del IARC TP53 deletion exon 1 TP53_g.12689A>T NM_000546:g.12689A>T IARC TP53 substitution exon 1 TP53_g.12700_12701del NM_000546:g.12700_12701del IARC TP53 deletion exon 1 TP53_g.13352_13354del NM_000546:g.13352_13354del IARC TP53 deletion exon 1 TP53_g.13371_13372del NM_000546:g.13371_13372del IARC TP53 deletion exon 1 TP53_g.13777_13778ins1 NM_000546:g.13777_13778ins1 IARC TP53 insertion exon 1 TP53_g.13832del NM_000546:g.13832del IARC TP53 deletion exon 1 TP53_g.13834_13835ins48 NM_000546:g.13834_13835ins48 IARC TP53 insertion exon 1 TP53_g.13848_13849ins33 NM_000546:g.13848_13849ins33 IARC TP53 insertion exon 1 TP53_g.13861del NM_000546:g.13861del IARC TP53 deletion exon 1 TP53_g.13337_13339delinsAAA NM_000546:g.13337_13339delinsAAA IARC TP53 complex exon 1 TP53_g.12767G>A NM_000546:g.12767G>A IARC TP53 substitution intron 1 TP53_g.14019C>T NM_000546:g.14019C>T IARC TP53 substitution exon 1 TP53_g.13901T>G NM_000546:g.13901T>G IARC TP53 substitution intron 1 TP53_g.12742G>C NM_000546:g.12742G>C IARC TP53 substitution intron 1 TP53_g.13909C>T NM_000546:g.13909C>T IARC TP53 substitution intron 1 TP53_g.12758G>T NM_000546:g.12758G>T IARC TP53 substitution intron 1 TP53_g.13971C>T NM_000546:g.13971C>T IARC TP53 substitution intron 1 TP53_g.12781G>T NM_000546:g.12781G>T IARC TP53 substitution intron 1 TP53_g.12773G>T NM_000546:g.12773G>T IARC TP53 substitution intron 1 TP53_g.12457_12459del NM_000546:g.12457_12459del IARC TP53 deletion exon 1 TP53_g.13914C>T NM_000546:g.13914C>T IARC TP53 substitution intron 1 TP53_g.12766_12767delinsAA NM_000546:g.12766_12767delinsAA IARC TP53 complex intron 1 TP53_g.12522C>A NM_000546:g.12522C>A IARC TP53 substitution exon 1 TP53_g.12766G>A NM_000546:g.12766G>A IARC TP53 substitution intron 1 TP53_g.13828_13857del NM_000546:g.13828_13857del IARC TP53 deletion exon 1 TP53_g.12520_12522del NM_000546:g.12520_12522del IARC TP53 deletion exon 1 TP53_g.12429_12430ins4 NM_000546:g.12429_12430ins4 IARC TP53 insertion exon 1 TP53_g.13781del NM_000546:g.13781del IARC TP53 deletion exon 1 TP53_g.13774T>G NM_000546:g.13774T>G IARC TP53 substitution exon 1 TP53_g.12521_12522ins1 NM_000546:g.12521_12522ins1 IARC TP53 insertion exon 1 TP53_g.13847_13854del NM_000546:g.13847_13854del IARC TP53 deletion exon 1 TP53_g.12368_12389del NM_000546:g.12368_12389del IARC TP53 deletion exon 1 TP53_g.13325A>C NM_000546:g.13325A>C IARC TP53 substitution exon 1 TP53_g.13352_13364del NM_000546:g.13352_13364del IARC TP53 deletion exon 1 TP53_g.13817G>A NM_000546:g.13817G>A IARC TP53 substitution exon 1 TP53_g.11343C>T NM_000546:g.11343C>T IARC TP53 substitution exon 1 TP53_g.12718_12762del NM_000546:g.12718_12762del IARC TP53 deletion exon 1 TP53_g.12385_12392del NM_000546:g.12385_12392del IARC TP53 deletion exon 1 TP53_g.11454C>T NM_000546:g.11454C>T IARC TP53 substitution exon 1 TP53_g.11575del NM_000546:g.11575del IARC TP53 deletion exon 1 TP53_g.11393_11394ins22 NM_000546:g.11393_11394ins22 IARC TP53 insertion exon 1 TP53_g.12540_12545del NM_000546:g.12540_12545del IARC TP53 deletion exon 1 TP53_g.12361_12362ins1 NM_000546:g.12361_12362ins1 IARC TP53 insertion intron 1 TP53_g.12392_12393ins4 NM_000546:g.12392_12393ins4 IARC TP53 insertion exon 1 TP53_g.11548del NM_000546:g.11548del IARC TP53 deletion exon 1 TP53_g.11436_11437del NM_000546:g.11436_11437del IARC TP53 deletion exon 1 TP53_g.13874del NM_000546:g.13874del IARC TP53 deletion exon 1 TP53_g.12529_12530ins18 NM_000546:g.12529_12530ins18 IARC TP53 insertion exon 1 TP53_g.13787_13788ins3 NM_000546:g.13787_13788ins3 IARC TP53 insertion exon 1 TP53_g.12390_12407del NM_000546:g.12390_12407del IARC TP53 deletion exon 1 TP53_g.12479_12482del NM_000546:g.12479_12482del IARC TP53 deletion exon 1 TP53_g.12510_12521del NM_000546:g.12510_12521del IARC TP53 deletion exon 1 TP53_g.13826G>C NM_000546:g.13826G>C IARC TP53 substitution exon 1 TP53_g.12468_12469delinsTT NM_000546:g.12468_12469delinsTT IARC TP53 complex exon 1 TP53_g.13381_13382del NM_000546:g.13381_13382del IARC TP53 deletion exon 1 TP53_g.12700_12724del NM_000546:g.12700_12724del IARC TP53 deletion exon 1 TP53_g.11569_11571del NM_000546:g.11569_11571del IARC TP53 deletion exon 1 TP53_g.13898_13899ins74 NM_000546:g.13898_13899ins74 IARC TP53 insertion exon 1 TP53_g.12417_12418delinsTT NM_000546:g.12417_12418delinsTT IARC TP53 complex exon 1 TP53_g.12439_12440ins1 NM_000546:g.12439_12440ins1 IARC TP53 insertion exon 1 TP53_g.13313_13321del NM_000546:g.13313_13321del IARC TP53 deletion exon 1 TP53_g.11512C>A NM_000546:g.11512C>A IARC TP53 substitution exon 1 TP53_g.16913del NM_000546:g.16913del IARC TP53 deletion exon 1 TP53_g.12457_12469del NM_000546:g.12457_12469del IARC TP53 deletion exon 1 TP53_g.12664_12682del NM_000546:g.12664_12682del IARC TP53 deletion exon 1 TP53_g.13819_13820del NM_000546:g.13819_13820del IARC TP53 deletion exon 1 TP53_g.14008del NM_000546:g.14008del IARC TP53 deletion exon 1 TP53_g.11540_11541delinsAT NM_000546:g.11540_11541delinsAT IARC TP53 complex exon 1 TP53_g.12469_12470del NM_000546:g.12469_12470del IARC TP53 deletion exon 1 TP53_g.12501G>T NM_000546:g.12501G>T IARC TP53 substitution exon 1 TP53_g.12384del NM_000546:g.12384del IARC TP53 deletion exon 1 TP53_g.13366_13367delinsTT NM_000546:g.13366_13367delinsTT IARC TP53 complex exon 1 TP53_g.13815_13836del NM_000546:g.13815_13836del IARC TP53 deletion exon 1 TP53_g.13376_13384del NM_000546:g.13376_13384del IARC TP53 deletion exon 1 TP53_g.13360_13361ins8 NM_000546:g.13360_13361ins8 IARC TP53 insertion exon 1 TP53_g.13862_13865delinsACC NM_000546:g.13862_13865delinsACC IARC TP53 complex exon 1 TP53_g.13861A>T NM_000546:g.13861A>T IARC TP53 substitution exon 1 TP53_g.13891C>A NM_000546:g.13891C>A IARC TP53 substitution exon 1 TP53_g.13871_13872ins1 NM_000546:g.13871_13872ins1 IARC TP53 insertion exon 1 TP53_g.13993_13994ins1 NM_000546:g.13993_13994ins1 IARC TP53 insertion exon 1 TP53_g.13414_13415ins1 NM_000546:g.13414_13415ins1 IARC TP53 insertion exon 1 TP53_g.12514_12515ins1 NM_000546:g.12514_12515ins1 IARC TP53 insertion exon 1 TP53_g.12647_12648ins1 NM_000546:g.12647_12648ins1 IARC TP53 insertion exon 1 TP53_g.11597_11608del NM_000546:g.11597_11608del IARC TP53 deletion exon 1 TP53_g.13347_13348delinsCC NM_000546:g.13347_13348delinsCC IARC TP53 complex exon 1 TP53_g.12639T>C NM_000546:g.12639T>C IARC TP53 substitution exon 1 TP53_g.12645_12646delinsTT NM_000546:g.12645_12646delinsTT IARC TP53 complex exon 1 TP53_g.12430_12432delinsTAG NM_000546:g.12430_12432delinsTAG IARC TP53 complex exon 1 TP53_g.12443del NM_000546:g.12443del IARC TP53 deletion exon 1 TP53_g.13379_13380delinsTT NM_000546:g.13379_13380delinsTT IARC TP53 complex exon 1 TP53_g.13813del NM_000546:g.13813del IARC TP53 deletion exon 1 TP53_g.13836_13837del NM_000546:g.13836_13837del IARC TP53 deletion exon 1 TP53_g.13825_13826delinsTC NM_000546:g.13825_13826delinsTC IARC TP53 complex exon 1 TP53_g.13844T>C NM_000546:g.13844T>C IARC TP53 substitution exon 1 TP53_g.13858_13859delinsCC NM_000546:g.13858_13859delinsCC IARC TP53 complex exon 1 TP53_g.13868C>G NM_000546:g.13868C>G IARC TP53 substitution exon 1 TP53_g.13822del NM_000546:g.13822del IARC TP53 deletion exon 1 TP53_g.13413_13414delinsGT NM_000546:g.13413_13414delinsGT IARC TP53 complex exon 1 TP53_g.12527A>T NM_000546:g.12527A>T IARC TP53 substitution exon 1 TP53_g.13319_13320delinsCC NM_000546:g.13319_13320delinsCC IARC TP53 complex exon 1 TP53_g.13844_13845delinsCT NM_000546:g.13844_13845delinsCT IARC TP53 complex exon 1 TP53_g.13391C>G NM_000546:g.13391C>G IARC TP53 substitution exon 1 TP53_g.13836_13837delinsTT NM_000546:g.13836_13837delinsTT IARC TP53 complex exon 1 TP53_g.13317C>G NM_000546:g.13317C>G IARC TP53 substitution exon 1 TP53_g.13348del NM_000546:g.13348del IARC TP53 deletion exon 1 TP53_g.12445C>G NM_000546:g.12445C>G IARC TP53 substitution exon 1 TP53_g.13383_13384delinsCC NM_000546:g.13383_13384delinsCC IARC TP53 complex exon 1 TP53_g.12426del NM_000546:g.12426del IARC TP53 deletion exon 1 TP53_g.12464C>G NM_000546:g.12464C>G IARC TP53 substitution exon 1 TP53_g.12644_12645delinsCC NM_000546:g.12644_12645delinsCC IARC TP53 complex exon 1 TP53_g.12693C>T NM_000546:g.12693C>T IARC TP53 substitution exon 1 TP53_g.13419G>T NM_000546:g.13419G>T IARC TP53 substitution exon 1 TP53_g.12382A>T NM_000546:g.12382A>T IARC TP53 substitution exon 1 TP53_g.12709_12716del NM_000546:g.12709_12716del IARC TP53 deletion exon 1 TP53_g.12455del NM_000546:g.12455del IARC TP53 deletion exon 1 TP53_g.13320A>T NM_000546:g.13320A>T IARC TP53 substitution exon 1 TP53_g.16885A>G NM_000546:g.16885A>G IARC TP53 substitution exon 1 TP53_g.11417A>C NM_000546:g.11417A>C IARC TP53 substitution exon 1 TP53_g.11412G>A NM_000546:g.11412G>A IARC TP53 substitution exon 1 TP53_g.12489G>C NM_000546:g.12489G>C IARC TP53 substitution exon 1 TP53_g.12638C>A NM_000546:g.12638C>A IARC TP53 substitution exon 1 TP53_g.11418G>A NM_000546:g.11418G>A IARC TP53 substitution exon 1 TP53_g.11512C>G NM_000546:g.11512C>G IARC TP53 substitution exon 1 TP53_g.14066_14067delinsAC NM_000546:g.14066_14067delinsAC IARC TP53 complex intron 1 TP53_g.12380_12382del NM_000546:g.12380_12382del IARC TP53 deletion exon 1 TP53_g.12518_12527del NM_000546:g.12518_12527del IARC TP53 deletion exon 1 TP53_g.12433_12434ins1 NM_000546:g.12433_12434ins1 IARC TP53 insertion exon 1 TP53_g.14043_14044del NM_000546:g.14043_14044del IARC TP53 deletion exon 1 TP53_g.16917_16918ins18 NM_000546:g.16917_16918ins18 IARC TP53 insertion exon 1 TP53_g.13832_13846del NM_000546:g.13832_13846del IARC TP53 deletion exon 1 TP53_g.13996_14000del NM_000546:g.13996_14000del IARC TP53 deletion exon 1 TP53_g.12436A>C NM_000546:g.12436A>C IARC TP53 substitution exon 1 TP53_g.13369_13370delinsAT NM_000546:g.13369_13370delinsAT IARC TP53 complex exon 1 TP53_g.13991G>C NM_000546:g.13991G>C IARC TP53 substitution intron 1 TP53_g.13831_13832del NM_000546:g.13831_13832del IARC TP53 deletion exon 1 TP53_g.13777_13778del NM_000546:g.13777_13778del IARC TP53 deletion exon 1 TP53_g.13409_13410ins3 NM_000546:g.13409_13410ins3 IARC TP53 insertion exon 1 TP53_g.14021C>A NM_000546:g.14021C>A IARC TP53 substitution exon 1 TP53_g.13766_13767delinsAC NM_000546:g.13766_13767delinsAC IARC TP53 complex exon 1 TP53_g.13768A>T NM_000546:g.13768A>T IARC TP53 substitution exon 1 TP53_g.13853_13854del NM_000546:g.13853_13854del IARC TP53 deletion exon 1 TP53_g.13370_13377del NM_000546:g.13370_13377del IARC TP53 deletion exon 1 TP53_g.11518C>G NM_000546:g.11518C>G IARC TP53 substitution exon 1 TP53_g.13377_13382del NM_000546:g.13377_13382del IARC TP53 deletion exon 1 TP53_g.12499G>C NM_000546:g.12499G>C IARC TP53 substitution exon 1 TP53_g.12689_12690ins1 NM_000546:g.12689_12690ins1 IARC TP53 insertion exon 1 TP53_g.12692_12718del NM_000546:g.12692_12718del IARC TP53 deletion exon 1 TP53_g.11607G>C NM_000546:g.11607G>C IARC TP53 substitution intron 1 TP53_g.13772_13773ins2 NM_000546:g.13772_13773ins2 IARC TP53 insertion exon 1 TP53_g.13806_13807ins2 NM_000546:g.13806_13807ins2 IARC TP53 insertion exon 1 TP53_g.13387_13388ins18 NM_000546:g.13387_13388ins18 IARC TP53 insertion exon 1 TP53_g.12642_12643ins40 NM_000546:g.12642_12643ins40 IARC TP53 insertion exon 1 TP53_g.12362del NM_000546:g.12362del IARC TP53 deletion intron 1 TP53_g.13764_13769del NM_000546:g.13764_13769del IARC TP53 deletion exon 1 TP53_g.12449G>C NM_000546:g.12449G>C IARC TP53 substitution exon 1 TP53_g.13801_13806del NM_000546:g.13801_13806del IARC TP53 deletion exon 1 TP53_g.12652_12653ins1 NM_000546:g.12652_12653ins1 IARC TP53 insertion exon 1 TP53_g.12364T>C NM_000546:g.12364T>C IARC TP53 substitution exon 1 TP53_g.13352_13353ins1 NM_000546:g.13352_13353ins1 IARC TP53 insertion exon 1 TP53_g.11340del NM_000546:g.11340del IARC TP53 deletion exon 1 TP53_g.13798_13799ins1 NM_000546:g.13798_13799ins1 IARC TP53 insertion exon 1 TP53_g.12371C>G NM_000546:g.12371C>G IARC TP53 substitution exon 1 TP53_g.12547_12548delinsAA NM_000546:g.12547_12548delinsAA IARC TP53 complex exon 1 TP53_g.11469C>T NM_000546:g.11469C>T IARC TP53 substitution exon 1 TP53_g.12738_12777del NM_000546:g.12738_12777del IARC TP53 deletion exon 1 TP53_g.13864C>G NM_000546:g.13864C>G IARC TP53 substitution exon 1 TP53_g.12374_12377del NM_000546:g.12374_12377del IARC TP53 deletion exon 1 TP53_g.12432del NM_000546:g.12432del IARC TP53 deletion exon 1 TP53_g.12510_12511del NM_000546:g.12510_12511del IARC TP53 deletion exon 1 TP53_g.12699_12700del NM_000546:g.12699_12700del IARC TP53 deletion exon 1 TP53_g.13359_13361del NM_000546:g.13359_13361del IARC TP53 deletion exon 1 TP53_g.13386del NM_000546:g.13386del IARC TP53 deletion exon 1 TP53_g.13407_13408del NM_000546:g.13407_13408del IARC TP53 deletion exon 1 TP53_g.13777_13794del NM_000546:g.13777_13794del IARC TP53 deletion exon 1 TP53_g.13859del NM_000546:g.13859del IARC TP53 deletion exon 1 TP53_g.12612_12623del NM_000546:g.12612_12623del IARC TP53 deletion intron 1 TP53_g.12475T>G NM_000546:g.12475T>G IARC TP53 substitution exon 1 TP53_g.13334C>G NM_000546:g.13334C>G IARC TP53 substitution exon 1 TP53_g.12676_12677delinsTG NM_000546:g.12676_12677delinsTG IARC TP53 complex exon 1 TP53_g.12418_12431del NM_000546:g.12418_12431del IARC TP53 deletion exon 1 TP53_g.11605C>G NM_000546:g.11605C>G IARC TP53 substitution exon 1 TP53_g.11478_11481del NM_000546:g.11478_11481del IARC TP53 deletion exon 1 TP53_g.11538_11553del NM_000546:g.11538_11553del IARC TP53 deletion exon 1 TP53_g.13411del NM_000546:g.13411del IARC TP53 deletion exon 1 TP53_g.12510_12511ins1 NM_000546:g.12510_12511ins1 IARC TP53 insertion exon 1 TP53_g.13339_13340ins3 NM_000546:g.13339_13340ins3 IARC TP53 insertion exon 1 TP53_g.11451G>A NM_000546:g.11451G>A IARC TP53 substitution exon 1 TP53_g.12651T>A NM_000546:g.12651T>A IARC TP53 substitution exon 1 TP53_g.13383_13384del NM_000546:g.13383_13384del IARC TP53 deletion exon 1 TP53_g.12699del NM_000546:g.12699del IARC TP53 deletion exon 1 TP53_g.13816G>T NM_000546:g.13816G>T IARC TP53 substitution exon 1 TP53_g.13868_13869delinsTT NM_000546:g.13868_13869delinsTT IARC TP53 complex exon 1 TP53_g.13870del NM_000546:g.13870del IARC TP53 deletion exon 1 TP53_g.11523C>T NM_000546:g.11523C>T IARC TP53 substitution exon 1 TP53_g.12689_12696del NM_000546:g.12689_12696del IARC TP53 deletion exon 1 TP53_g.13854del NM_000546:g.13854del IARC TP53 deletion exon 1 TP53_g.13831C>T NM_000546:g.13831C>T IARC TP53 substitution exon 1 TP53_g.12367_12370del NM_000546:g.12367_12370del IARC TP53 deletion exon 1 TP53_g.12469_12475del NM_000546:g.12469_12475del IARC TP53 deletion exon 1 TP53_g.11369C>T NM_000546:g.11369C>T IARC TP53 substitution exon 1 TP53_g.11437del NM_000546:g.11437del IARC TP53 deletion exon 1 TP53_g.11597G>A NM_000546:g.11597G>A IARC TP53 substitution exon 1 TP53_g.12396del NM_000546:g.12396del IARC TP53 deletion exon 1 TP53_g.11378_11379del NM_000546:g.11378_11379del IARC TP53 deletion exon 1 TP53_g.11608T>A NM_000546:g.11608T>A IARC TP53 substitution intron 1 TP53_g.13354_13355ins3 NM_000546:g.13354_13355ins3 IARC TP53 insertion exon 1 TP53_g.13384_13385delinsTT NM_000546:g.13384_13385delinsTT IARC TP53 complex exon 1 TP53_g.13398_13405del NM_000546:g.13398_13405del IARC TP53 deletion exon 1 TP53_g.13882_13883ins1 NM_000546:g.13882_13883ins1 IARC TP53 insertion exon 1 TP53_g.14005del NM_000546:g.14005del IARC TP53 deletion exon 1 TP53_g.14031del NM_000546:g.14031del IARC TP53 deletion exon 1 TP53_g.14043del NM_000546:g.14043del IARC TP53 deletion exon 1 TP53_g.12478_12481del NM_000546:g.12478_12481del IARC TP53 deletion exon 1 TP53_g.13340_13345del NM_000546:g.13340_13345del IARC TP53 deletion exon 1 TP53_g.13806_13809del NM_000546:g.13806_13809del IARC TP53 deletion exon 1 TP53_g.13846T>G NM_000546:g.13846T>G IARC TP53 substitution exon 1 TP53_g.11504_11505del NM_000546:g.11504_11505del IARC TP53 deletion exon 1 TP53_g.13343_13344ins1 NM_000546:g.13343_13344ins1 IARC TP53 insertion exon 1 TP53_g.11565_11566del NM_000546:g.11565_11566del IARC TP53 deletion exon 1 TP53_g.12499_12524del NM_000546:g.12499_12524del IARC TP53 deletion exon 1 TP53_g.12679del NM_000546:g.12679del IARC TP53 deletion exon 1 TP53_g.13791_13792del NM_000546:g.13791_13792del IARC TP53 deletion exon 1 TP53_g.13785A>C NM_000546:g.13785A>C IARC TP53 substitution exon 1 TP53_g.11579_11580ins1 NM_000546:g.11579_11580ins1 IARC TP53 insertion exon 1 TP53_g.12484_12485delinsGG NM_000546:g.12484_12485delinsGG IARC TP53 complex exon 1 TP53_g.13897G>A NM_000546:g.13897G>A IARC TP53 substitution exon 1 TP53_g.14040_14042del NM_000546:g.14040_14042del IARC TP53 deletion exon 1 TP53_g.14045_14050del NM_000546:g.14045_14050del IARC TP53 deletion exon 1 TP53_g.12675_12676ins8 NM_000546:g.12675_12676ins8 IARC TP53 insertion exon 1 TP53_g.13783A>T NM_000546:g.13783A>T IARC TP53 substitution exon 1 TP53_g.12492C>G NM_000546:g.12492C>G IARC TP53 substitution exon 1 TP53_g.12715_12729del NM_000546:g.12715_12729del IARC TP53 deletion exon 1 TP53_g.11367_11378del NM_000546:g.11367_11378del IARC TP53 deletion exon 1 TP53_g.11359T>A NM_000546:g.11359T>A IARC TP53 substitution exon 1 TP53_g.11599C>A NM_000546:g.11599C>A IARC TP53 substitution exon 1 TP53_g.13409del NM_000546:g.13409del IARC TP53 deletion exon 1 TP53_g.12721_12729del NM_000546:g.12721_12729del IARC TP53 deletion exon 1 TP53_g.12406_12410del NM_000546:g.12406_12410del IARC TP53 deletion exon 1 TP53_g.14024del NM_000546:g.14024del IARC TP53 deletion exon 1 TP53_g.13834A>C NM_000546:g.13834A>C IARC TP53 substitution exon 1 TP53_g.16896_16897ins4 NM_000546:g.16896_16897ins4 IARC TP53 insertion exon 1 TP53_g.13417_13418ins200 NM_000546:g.13417_13418ins200 IARC TP53 insertion exon 1 TP53_g.13899_13917del NM_000546:g.13899_13917del IARC TP53 deletion exon 1 TP53_g.12724_12725delinsTG NM_000546:g.12724_12725delinsTG IARC TP53 complex exon 1 TP53_g.13310_13318del NM_000546:g.13310_13318del IARC TP53 deletion exon 1 TP53_g.12376_12378del NM_000546:g.12376_12378del IARC TP53 deletion exon 1 TP53_g.13349_13375del NM_000546:g.13349_13375del IARC TP53 deletion exon 1 TP53_g.13348_13349ins3 NM_000546:g.13348_13349ins3 IARC TP53 insertion exon 1 TP53_g.13381_13382ins13 NM_000546:g.13381_13382ins13 IARC TP53 insertion exon 1 TP53_g.13367_13368del NM_000546:g.13367_13368del IARC TP53 deletion exon 1 TP53_g.11440_11441ins2 NM_000546:g.11440_11441ins2 IARC TP53 insertion exon 1 TP53_g.13376_13392del NM_000546:g.13376_13392del IARC TP53 deletion exon 1 TP53_g.13339_13340ins6 NM_000546:g.13339_13340ins6 IARC TP53 insertion exon 1 TP53_g.12364_12371del NM_000546:g.12364_12371del IARC TP53 deletion exon 1 TP53_g.12377T>A NM_000546:g.12377T>A IARC TP53 substitution exon 1 TP53_g.13899_13900del NM_000546:g.13899_13900del IARC TP53 deletion exon 1 TP53_g.12726_12727ins1 NM_000546:g.12726_12727ins1 IARC TP53 insertion exon 1 TP53_g.11552C>T NM_000546:g.11552C>T IARC TP53 substitution exon 1 TP53_g.11399A>G NM_000546:g.11399A>G IARC TP53 substitution exon 1 TP53_g.11534A>T NM_000546:g.11534A>T IARC TP53 substitution exon 1 TP53_g.11483C>T NM_000546:g.11483C>T IARC TP53 substitution exon 1 TP53_g.12543C>G NM_000546:g.12543C>G IARC TP53 substitution exon 1 TP53_g.13890A>T NM_000546:g.13890A>T IARC TP53 substitution exon 1 TP53_g.13775G>T NM_000546:g.13775G>T IARC TP53 substitution exon 1 TP53_g.12441_12442delinsT NM_000546:g.12441_12442delinsT IARC TP53 complex exon 1 TP53_g.14020C>A NM_000546:g.14020C>A IARC TP53 substitution exon 1 TP53_g.12452_12453delinsTG NM_000546:g.12452_12453delinsTG IARC TP53 complex exon 1 TP53_g.16916G>T NM_000546:g.16916G>T IARC TP53 substitution exon 1 TP53_g.13780_13781delinsAT NM_000546:g.13780_13781delinsAT IARC TP53 complex exon 1 TP53_g.12488del NM_000546:g.12488del IARC TP53 deletion exon 1 TP53_g.11572_11585del NM_000546:g.11572_11585del IARC TP53 deletion exon 1 TP53_g.12364_12377del NM_000546:g.12364_12377del IARC TP53 deletion exon 1 TP53_g.13354_13355ins7 NM_000546:g.13354_13355ins7 IARC TP53 insertion exon 1 TP53_g.12433_12445del NM_000546:g.12433_12445del IARC TP53 deletion exon 1 TP53_g.11469del NM_000546:g.11469del IARC TP53 deletion exon 1 TP53_g.11550_11560del NM_000546:g.11550_11560del IARC TP53 deletion exon 1 TP53_g.12714_12715ins2 NM_000546:g.12714_12715ins2 IARC TP53 insertion exon 1 TP53_g.11516_11517ins1 NM_000546:g.11516_11517ins1 IARC TP53 insertion exon 1 TP53_g.13314G>T NM_000546:g.13314G>T IARC TP53 substitution exon 1 TP53_g.11433del NM_000546:g.11433del IARC TP53 deletion exon 1 TP53_g.12648del NM_000546:g.12648del IARC TP53 deletion exon 1 TP53_g.12635_12643del NM_000546:g.12635_12643del IARC TP53 deletion exon 1 TP53_g.11546_11551del NM_000546:g.11546_11551del IARC TP53 deletion exon 1 TP53_g.12501_12502ins1 NM_000546:g.12501_12502ins1 IARC TP53 insertion exon 1 TP53_g.12492_12493ins2 NM_000546:g.12492_12493ins2 IARC TP53 insertion exon 1 TP53_g.13390del NM_000546:g.13390del IARC TP53 deletion exon 1 TP53_g.11594_11600del NM_000546:g.11594_11600del IARC TP53 deletion exon 1 TP53_g.11532del NM_000546:g.11532del IARC TP53 deletion exon 1 TP53_g.11593_11594del NM_000546:g.11593_11594del IARC TP53 deletion exon 1 TP53_g.12650del NM_000546:g.12650del IARC TP53 deletion exon 1 TP53_g.11432_11433ins1 NM_000546:g.11432_11433ins1 IARC TP53 insertion exon 1 TP53_g.11477G>A NM_000546:g.11477G>A IARC TP53 substitution exon 1 TP53_g.13814_13815ins15 NM_000546:g.13814_13815ins15 IARC TP53 insertion exon 1 TP53_g.11448del NM_000546:g.11448del IARC TP53 deletion exon 1 TP53_g.11478del NM_000546:g.11478del IARC TP53 deletion exon 1 TP53_g.11549_11550ins3 NM_000546:g.11549_11550ins3 IARC TP53 insertion exon 1 TP53_g.12672_12673ins15 NM_000546:g.12672_12673ins15 IARC TP53 insertion exon 1 TP53_g.30004_30034del NM_000546:g.30004_30034del IARC TP53 deletion intron 1 TP53_g.13773_13787del NM_000546:g.13773_13787del IARC TP53 deletion exon 1 TP53_g.13872del NM_000546:g.13872del IARC TP53 deletion exon 1 TP53_g.12526_12527ins2 NM_000546:g.12526_12527ins2 IARC TP53 insertion exon 1 TP53_g.13888_13889ins1 NM_000546:g.13888_13889ins1 IARC TP53 insertion exon 1 TP53_g.13408_13409ins1 NM_000546:g.13408_13409ins1 IARC TP53 insertion exon 1 TP53_g.12526_12527ins1 NM_000546:g.12526_12527ins1 IARC TP53 insertion exon 1 TP53_g.13409_13410ins1 NM_000546:g.13409_13410ins1 IARC TP53 insertion exon 1 TP53_g.13336del NM_000546:g.13336del IARC TP53 deletion exon 1 TP53_g.12397C>G NM_000546:g.12397C>G IARC TP53 substitution exon 1 TP53_g.12673C>G NM_000546:g.12673C>G IARC TP53 substitution exon 1 TP53_g.13344_13345ins1 NM_000546:g.13344_13345ins1 IARC TP53 insertion exon 1 TP53_g.13390_13393del NM_000546:g.13390_13393del IARC TP53 deletion exon 1 TP53_g.11372G>A NM_000546:g.11372G>A IARC TP53 substitution exon 1 TP53_g.12714_12715ins1 NM_000546:g.12714_12715ins1 IARC TP53 insertion exon 1 TP53_g.12439_12451del NM_000546:g.12439_12451del IARC TP53 deletion exon 1 TP53_g.17908A>T NM_000546:g.17908A>T IARC TP53 substitution intron 1 TP53_g.13419G>A NM_000546:g.13419G>A IARC TP53 substitution exon 1 TP53_g.12457_12516del NM_000546:g.12457_12516del IARC TP53 deletion exon 1 TP53_g.12527A>C NM_000546:g.12527A>C IARC TP53 substitution exon 1 TP53_g.12541A>C NM_000546:g.12541A>C IARC TP53 substitution exon 1 TP53_g.13886del NM_000546:g.13886del IARC TP53 deletion exon 1 TP53_g.12688del NM_000546:g.12688del IARC TP53 deletion exon 1 TP53_g.12695del NM_000546:g.12695del IARC TP53 deletion exon 1 TP53_g.13387_13388ins21 NM_000546:g.13387_13388ins21 IARC TP53 insertion exon 1 TP53_g.12512_12513delinsAG NM_000546:g.12512_12513delinsAG IARC TP53 complex exon 1 TP53_g.12416_12417delinsGT NM_000546:g.12416_12417delinsGT IARC TP53 complex exon 1 TP53_g.11425G>C NM_000546:g.11425G>C IARC TP53 substitution exon 1 TP53_g.11552_11553ins1 NM_000546:g.11552_11553ins1 IARC TP53 insertion exon 1 TP53_g.12444_12445ins2 NM_000546:g.12444_12445ins2 IARC TP53 insertion exon 1 TP53_g.13811T>G NM_000546:g.13811T>G IARC TP53 substitution exon 1 TP53_g.14010G>T NM_000546:g.14010G>T IARC TP53 substitution exon 1 TP53_g.14032G>T NM_000546:g.14032G>T IARC TP53 substitution exon 1 TP53_g.13354_13355ins1 NM_000546:g.13354_13355ins1 IARC TP53 insertion exon 1 TP53_g.11348_11349ins1 NM_000546:g.11348_11349ins1 IARC TP53 insertion exon 1 TP53_g.11390_11391ins1 NM_000546:g.11390_11391ins1 IARC TP53 insertion exon 1 TP53_g.11555T>C NM_000546:g.11555T>C IARC TP53 substitution exon 1 TP53_g.13830_13831ins1 NM_000546:g.13830_13831ins1 IARC TP53 insertion exon 1 TP53_g.11585_11586ins1 NM_000546:g.11585_11586ins1 IARC TP53 insertion exon 1 TP53_g.14023_14024ins1 NM_000546:g.14023_14024ins1 IARC TP53 insertion exon 1 TP53_g.12640_12653del NM_000546:g.12640_12653del IARC TP53 deletion exon 1 TP53_g.14052A>C NM_000546:g.14052A>C IARC TP53 substitution exon 1 TP53_g.11604_11638del NM_000546:g.11604_11638del IARC TP53 deletion exon 1 TP53_g.13791_13799del NM_000546:g.13791_13799del IARC TP53 deletion exon 1 TP53_g.11445del NM_000546:g.11445del IARC TP53 deletion exon 1 TP53_g.14020_14021ins50 NM_000546:g.14020_14021ins50 IARC TP53 insertion exon 1 TP53_g.16885_16984del NM_000546:g.16885_16984del IARC TP53 deletion exon 1 TP53_g.16885_17004del NM_000546:g.16885_17004del IARC TP53 deletion exon 1 TP53_g.13369_13382del NM_000546:g.13369_13382del IARC TP53 deletion exon 1 TP53_g.12390_12391ins1 NM_000546:g.12390_12391ins1 IARC TP53 insertion exon 1 TP53_g.13827C>A NM_000546:g.13827C>A IARC TP53 substitution exon 1 TP53_g.13415_13416ins1 NM_000546:g.13415_13416ins1 IARC TP53 insertion exon 1 TP53_g.11345del NM_000546:g.11345del IARC TP53 deletion exon 1 TP53_g.13353_13361del NM_000546:g.13353_13361del IARC TP53 deletion exon 1 TP53_g.11340T>A NM_000546:g.11340T>A IARC TP53 substitution exon 1 TP53_g.11544G>T NM_000546:g.11544G>T IARC TP53 substitution exon 1 TP53_g.12454_12460del NM_000546:g.12454_12460del IARC TP53 deletion exon 1 TP53_g.11385_11386ins4 NM_000546:g.11385_11386ins4 IARC TP53 insertion exon 1 TP53_g.12433_13272del NM_000546:g.12433_13272del IARC TP53 deletion exon 1 TP53_g.16965G>T NM_000546:g.16965G>T IARC TP53 substitution exon 1 TP53_g.13394_13395ins1 NM_000546:g.13394_13395ins1 IARC TP53 insertion exon 1 TP53_g.11455C>T NM_000546:g.11455C>T IARC TP53 substitution exon 1 TP53_g.11494C>T NM_000546:g.11494C>T IARC TP53 substitution exon 1 TP53_g.11431C>T NM_000546:g.11431C>T IARC TP53 substitution exon 1 TP53_g.11507C>T NM_000546:g.11507C>T IARC TP53 substitution exon 1 TP53_g.11597G>C NM_000546:g.11597G>C IARC TP53 substitution exon 1 TP53_g.13366_13367delinsAA NM_000546:g.13366_13367delinsAA IARC TP53 complex exon 1 TP53_g.12439_12507del NM_000546:g.12439_12507del IARC TP53 deletion exon 1 TP53_g.13336C>G NM_000546:g.13336C>G IARC TP53 substitution exon 1 TP53_g.11553G>A NM_000546:g.11553G>A IARC TP53 substitution exon 1 TP53_g.12373_12735del NM_000546:g.12373_12735del IARC TP53 deletion exon 1 TP53_g.13310_13630del NM_000546:g.13310_13630del IARC TP53 deletion exon 1 TP53_g.12544_12545del NM_000546:g.12544_12545del IARC TP53 deletion exon 1 TP53_g.11478_11479del NM_000546:g.11478_11479del IARC TP53 deletion exon 1 TP53_g.12478_12611del NM_000546:g.12478_12611del IARC TP53 deletion exon 1 TP53_g.13831_13834del NM_000546:g.13831_13834del IARC TP53 deletion exon 1 TP53_g.12388T>G NM_000546:g.12388T>G IARC TP53 substitution exon 1 TP53_g.12631C>T NM_000546:g.12631C>T IARC TP53 substitution exon 1 TP53_g.12559G>A NM_000546:g.12559G>A IARC TP53 substitution intron 1 TP53_g.13315C>G NM_000546:g.13315C>G IARC TP53 substitution exon 1 TP53_g.12759G>C NM_000546:g.12759G>C IARC TP53 substitution intron 1 TP53_g.13775G>A NM_000546:g.13775G>A IARC TP53 substitution exon 1 TP53_g.13891C>T NM_000546:g.13891C>T IARC TP53 substitution exon 1 TP53_g.13293C>T NM_000546:g.13293C>T IARC TP53 substitution intron 1 TP53_g.13845C>G NM_000546:g.13845C>G IARC TP53 substitution exon 1 TP53_g.12437C>G NM_000546:g.12437C>G IARC TP53 substitution exon 1 TP53_g.12641_12643del NM_000546:g.12641_12643del IARC TP53 deletion exon 1 TP53_g.13925delinsAT NM_000546:g.13925delinsAT IARC TP53 complex intron 1 TP53_g.12418C>A NM_000546:g.12418C>A IARC TP53 substitution exon 1 TP53_g.13856A>C NM_000546:g.13856A>C IARC TP53 substitution exon 1 TP53_g.13320_13321del NM_000546:g.13320_13321del IARC TP53 deletion exon 1 TP53_g.12645_12646delinsCA NM_000546:g.12645_12646delinsCA IARC TP53 complex exon 1 TP53_g.13420G>C NM_000546:g.13420G>C IARC TP53 substitution intron 1 TP53_g.12511_12529del NM_000546:g.12511_12529del IARC TP53 deletion exon 1 TP53_g.12406_12427del NM_000546:g.12406_12427del IARC TP53 deletion exon 1 TP53_g.13391_13401del NM_000546:g.13391_13401del IARC TP53 deletion exon 1 TP53_g.11373del NM_000546:g.11373del IARC TP53 deletion exon 1 TP53_g.11499del NM_000546:g.11499del IARC TP53 deletion exon 1 TP53_g.12674_12675delinsCG NM_000546:g.12674_12675delinsCG IARC TP53 complex exon 1 TP53_g.16922T>C NM_000546:g.16922T>C IARC TP53 substitution exon 1 TP53_g.11553_11558del NM_000546:g.11553_11558del IARC TP53 deletion exon 1 TP53_g.11482_11483delinsTT NM_000546:g.11482_11483delinsTT IARC TP53 complex exon 1 TP53_g.13382_13405del NM_000546:g.13382_13405del IARC TP53 deletion exon 1 TP53_g.13412del NM_000546:g.13412del IARC TP53 deletion exon 1 TP53_g.13301A>G NM_000546:g.13301A>G IARC TP53 substitution intron 1 TP53_g.12471_12472ins1 NM_000546:g.12471_12472ins1 IARC TP53 insertion exon 1 TP53_g.13335A>G NM_000546:g.13335A>G IARC TP53 substitution exon 1 TP53_g.12703T>G NM_000546:g.12703T>G IARC TP53 substitution exon 1 TP53_g.13313G>A NM_000546:g.13313G>A IARC TP53 substitution exon 1 TP53_g.13411A>G NM_000546:g.13411A>G IARC TP53 substitution exon 1 TP53_g.13392_13393ins1 NM_000546:g.13392_13393ins1 IARC TP53 insertion exon 1 TP53_g.12440_12441ins1 NM_000546:g.12440_12441ins1 IARC TP53 insertion exon 1 TP53_g.11474_11475ins1 NM_000546:g.11474_11475ins1 IARC TP53 insertion exon 1 TP53_g.11374A>G NM_000546:g.11374A>G IARC TP53 substitution exon 1 TP53_g.13877_13878ins1 NM_000546:g.13877_13878ins1 IARC TP53 insertion exon 1 TP53_g.12448_12449delinsAT NM_000546:g.12448_12449delinsAT IARC TP53 complex exon 1 TP53_g.11499_11513del NM_000546:g.11499_11513del IARC TP53 deletion exon 1 TP53_g.13394_13399del NM_000546:g.13394_13399del IARC TP53 deletion exon 1 TP53_g.13769_13770ins51 NM_000546:g.13769_13770ins51 IARC TP53 insertion exon 1 TP53_g.13791_13806del NM_000546:g.13791_13806del IARC TP53 deletion exon 1 TP53_g.12522C>G NM_000546:g.12522C>G IARC TP53 substitution exon 1 TP53_g.12668A>T NM_000546:g.12668A>T IARC TP53 substitution exon 1 TP53_g.11385_11397del NM_000546:g.11385_11397del IARC TP53 deletion exon 1 TP53_g.11441_11442ins1 NM_000546:g.11441_11442ins1 IARC TP53 insertion exon 1 TP53_g.14022A>G NM_000546:g.14022A>G IARC TP53 substitution exon 1 TP53_g.12511_12516del NM_000546:g.12511_12516del IARC TP53 deletion exon 1 TP53_g.12646_12654del NM_000546:g.12646_12654del IARC TP53 deletion exon 1 TP53_g.12772A>G NM_000546:g.12772A>G IARC TP53 substitution intron 1 TP53_g.14076T>C NM_000546:g.14076T>C IARC TP53 substitution intron 1 TP53_g.13396_13404del NM_000546:g.13396_13404del IARC TP53 deletion exon 1 TP53_g.11071A>G NM_000546:g.11071A>G IARC TP53 substitution exon 1 TP53_g.12461_12462delinsAA NM_000546:g.12461_12462delinsAA IARC TP53 complex exon 1 TP53_g.13345_13346delinsAT NM_000546:g.13345_13346delinsAT IARC TP53 complex exon 1 TP53_g.12547_12552del NM_000546:g.12547_12552del IARC TP53 deletion exon 1 TP53_g.16981G>C NM_000546:g.16981G>C IARC TP53 substitution exon 1 TP53_g.11403C>A NM_000546:g.11403C>A IARC TP53 substitution exon 1 TP53_g.11555_11556ins1 NM_000546:g.11555_11556ins1 IARC TP53 insertion exon 1 TP53_g.12670_12671delinsCC NM_000546:g.12670_12671delinsCC IARC TP53 complex exon 1 TP53_g.12376_12412del NM_000546:g.12376_12412del IARC TP53 deletion exon 1 TP53_g.12505_12520del NM_000546:g.12505_12520del IARC TP53 deletion exon 1 TP53_g.12396_12397ins1 NM_000546:g.12396_12397ins1 IARC TP53 insertion exon 1 TP53_g.13437A>T NM_000546:g.13437A>T IARC TP53 substitution intron 1 TP53_g.14050_14051ins1 NM_000546:g.14050_14051ins1 IARC TP53 insertion exon 1 TP53_g.16914del NM_000546:g.16914del IARC TP53 deletion exon 1 TP53_g.11561_11562ins1 NM_000546:g.11561_11562ins1 IARC TP53 insertion exon 1 TP53_g.12517C>G NM_000546:g.12517C>G IARC TP53 substitution exon 1 TP53_g.13833_13834ins1 NM_000546:g.13833_13834ins1 IARC TP53 insertion exon 1 TP53_g.12653_12654ins1 NM_000546:g.12653_12654ins1 IARC TP53 insertion exon 1 TP53_g.13351_13352ins8 NM_000546:g.13351_13352ins8 IARC TP53 insertion exon 1 TP53_g.12681_12682ins1 NM_000546:g.12681_12682ins1 IARC TP53 insertion exon 1 TP53_g.11206_11207ins1 NM_000546:g.11206_11207ins1 IARC TP53 insertion exon 1 TP53_g.12655_12676del NM_000546:g.12655_12676del IARC TP53 deletion exon 1 TP53_g.12658_12663del NM_000546:g.12658_12663del IARC TP53 deletion exon 1 TP53_g.13402_13403ins12 NM_000546:g.13402_13403ins12 IARC TP53 insertion exon 1 TP53_g.13763_13786del NM_000546:g.13763_13786del IARC TP53 deletion exon 1 TP53_g.14066G>C NM_000546:g.14066G>C IARC TP53 substitution intron 1 TP53_g.11495_11496ins11 NM_000546:g.11495_11496ins11 IARC TP53 insertion exon 1 TP53_g.12406_12415del NM_000546:g.12406_12415del IARC TP53 deletion exon 1 TP53_g.11298C>A NM_000546:g.11298C>A IARC TP53 substitution intron 1 TP53_g.11509del NM_000546:g.11509del IARC TP53 deletion exon 1 TP53_g.13797_13798delinsTA NM_000546:g.13797_13798delinsTA IARC TP53 complex exon 1 TP53_g.11407G>A NM_000546:g.11407G>A IARC TP53 substitution exon 1 TP53_g.11568T>C NM_000546:g.11568T>C IARC TP53 substitution exon 1 TP53_g.11436G>A NM_000546:g.11436G>A IARC TP53 substitution exon 1 TP53_g.14051T>C NM_000546:g.14051T>C IARC TP53 substitution exon 1 TP53_g.13788_13823del NM_000546:g.13788_13823del IARC TP53 deletion exon 1 TP53_g.30014_30015ins1 NM_000546:g.30014_30015ins1 IARC TP53 insertion exon 1 TP53_g.12635C>A NM_000546:g.12635C>A IARC TP53 substitution exon 1 TP53_g.12688G>A NM_000546:g.12688G>A IARC TP53 substitution exon 1 TP53_g.14056_14057ins14 NM_000546:g.14056_14057ins14 IARC TP53 insertion exon 1 TP53_g.12721_12732del NM_000546:g.12721_12732del IARC TP53 deletion exon 1 TP53_g.13761A>G NM_000546:g.13761A>G IARC TP53 substitution intron 1 TP53_g.12639_12640ins1 NM_000546:g.12639_12640ins1 IARC TP53 insertion exon 1 TP53_g.13899_13992del NM_000546:g.13899_13992del IARC TP53 deletion exon 1 TP53_g.12382_12383delinsTT NM_000546:g.12382_12383delinsTT IARC TP53 complex exon 1 TP53_g.12385A>T NM_000546:g.12385A>T IARC TP53 substitution exon 1 TP53_g.12368C>G NM_000546:g.12368C>G IARC TP53 substitution exon 1 TP53_g.13797_13798ins1 NM_000546:g.13797_13798ins1 IARC TP53 insertion exon 1 TP53_g.13410A>C NM_000546:g.13410A>C IARC TP53 substitution exon 1 TP53_g.12457_12458ins6 NM_000546:g.12457_12458ins6 IARC TP53 insertion exon 1 TP53_g.12544G>C NM_000546:g.12544G>C IARC TP53 substitution exon 1 TP53_g.12494_12495ins1 NM_000546:g.12494_12495ins1 IARC TP53 insertion exon 1 TP53_g.13876T>G NM_000546:g.13876T>G IARC TP53 substitution exon 1 TP53_g.13863_13864ins2 NM_000546:g.13863_13864ins2 IARC TP53 insertion exon 1 TP53_g.13334_13335ins1 NM_000546:g.13334_13335ins1 IARC TP53 insertion exon 1 TP53_g.11209_11210delinsGG NM_000546:g.11209_11210delinsGG IARC TP53 complex exon 1 TP53_g.12663_12664ins63 NM_000546:g.12663_12664ins63 IARC TP53 insertion exon 1 TP53_g.13845_13854del NM_000546:g.13845_13854del IARC TP53 deletion exon 1 TP53_g.14021_14039del NM_000546:g.14021_14039del IARC TP53 deletion exon 1 TP53_g.12649_12650del NM_000546:g.12649_12650del IARC TP53 deletion exon 1 TP53_g.13394_13413del NM_000546:g.13394_13413del IARC TP53 deletion exon 1 TP53_g.11391del NM_000546:g.11391del IARC TP53 deletion exon 1 TP53_g.11361del NM_000546:g.11361del IARC TP53 deletion exon 1 TP53_g.11558_11559ins6 NM_000546:g.11558_11559ins6 IARC TP53 insertion exon 1 TP53_g.12408_12409ins2 NM_000546:g.12408_12409ins2 IARC TP53 insertion exon 1 TP53_g.30006_30053del NM_000546:g.30006_30053del IARC TP53 deletion intron 1 TP53_g.13766T>C NM_000546:g.13766T>C IARC TP53 substitution exon 1 TP53_g.12462_12463ins6 NM_000546:g.12462_12463ins6 IARC TP53 insertion exon 1 TP53_g.30016_30042del NM_000546:g.30016_30042del IARC TP53 deletion exon 1 TP53_g.13367_13369del NM_000546:g.13367_13369del IARC TP53 deletion exon 1 TP53_g.17913del NM_000546:g.17913del IARC TP53 deletion exon 1 TP53_g.12516C>T NM_000546:g.12516C>T IARC TP53 substitution exon 1 TP53_g.13417del NM_000546:g.13417del IARC TP53 deletion exon 1 TP53_g.12723_12724ins3 NM_000546:g.12723_12724ins3 IARC TP53 insertion exon 1 TP53_g.12702_12703ins36 NM_000546:g.12702_12703ins36 IARC TP53 insertion exon 1 TP53_g.13771T>G NM_000546:g.13771T>G IARC TP53 substitution exon 1 TP53_g.12394_12395ins2 NM_000546:g.12394_12395ins2 IARC TP53 insertion exon 1 TP53_g.13408_13456del NM_000546:g.13408_13456del IARC TP53 deletion exon 1 TP53_g.13847_13848ins5 NM_000546:g.13847_13848ins5 IARC TP53 insertion exon 1 TP53_g.13786_13787ins1 NM_000546:g.13786_13787ins1 IARC TP53 insertion exon 1 TP53_g.12765T>A NM_000546:g.12765T>A IARC TP53 substitution intron 1 TP53_g.12438del NM_000546:g.12438del IARC TP53 deletion exon 1 TP53_g.12670T>C NM_000546:g.12670T>C IARC TP53 substitution exon 1 TP53_g.30014_30015del NM_000546:g.30014_30015del IARC TP53 deletion exon 1 TP53_g.11197_11218del NM_000546:g.11197_11218del IARC TP53 deletion exon 1 TP53_g.30018_30019ins74 NM_000546:g.30018_30019ins74 IARC TP53 insertion exon 1 TP53_g.11367_11384del NM_000546:g.11367_11384del IARC TP53 deletion exon 1 TP53_g.11550T>G NM_000546:g.11550T>G IARC TP53 substitution exon 1 TP53_g.13319_13322del NM_000546:g.13319_13322del IARC TP53 deletion exon 1 TP53_g.13355_13356ins1 NM_000546:g.13355_13356ins1 IARC TP53 insertion exon 1 TP53_g.12652_12670del NM_000546:g.12652_12670del IARC TP53 deletion exon 1 TP53_g.13870A>G NM_000546:g.13870A>G IARC TP53 substitution exon 1 TP53_g.11507_11508ins1 NM_000546:g.11507_11508ins1 IARC TP53 insertion exon 1 TP53_g.13798del NM_000546:g.13798del IARC TP53 deletion exon 1 TP53_g.12379del NM_000546:g.12379del IARC TP53 deletion exon 1 TP53_g.13327C>T NM_000546:g.13327C>T IARC TP53 substitution exon 1 TP53_g.12615del NM_000546:g.12615del IARC TP53 deletion intron 1 TP53_g.11406G>T NM_000546:g.11406G>T IARC TP53 substitution exon 1 TP53_g.16902_16903ins1 NM_000546:g.16902_16903ins1 IARC TP53 insertion exon 1 TP53_g.13331_13338del NM_000546:g.13331_13338del IARC TP53 deletion exon 1 TP53_g.11906_11927del NM_000546:g.11906_11927del IARC TP53 deletion not within known transcription unit 0 TP53_g.11467_11691del NM_000546:g.11467_11691del IARC TP53 deletion exon 1 TP53_g.12509_12526del NM_000546:g.12509_12526del IARC TP53 deletion exon 1 TP53_g.11428T>G NM_000546:g.11428T>G IARC TP53 substitution exon 1 TP53_g.17935T>G NM_000546:g.17935T>G IARC TP53 substitution exon 1 TP53_g.11327_11345del NM_000546:g.11327_11345del IARC TP53 deletion intron 1 TP53_g.14054_14055ins1 NM_000546:g.14054_14055ins1 IARC TP53 insertion exon 1 TP53_g.12671T>C NM_000546:g.12671T>C IARC TP53 substitution exon 1 TP53_g.12543C>A NM_000546:g.12543C>A IARC TP53 substitution exon 1 TP53_g.16928A>C NM_000546:g.16928A>C IARC TP53 substitution exon 1 TP53_g.11041_11392del NM_000546:g.11041_11392del IARC TP53 deletion exon 1 TP53_g.13991_14009del NM_000546:g.13991_14009del IARC TP53 deletion intron 1 TP53_g.12644_12645ins24 NM_000546:g.12644_12645ins24 IARC TP53 insertion exon 1 TP53_g.12729del NM_000546:g.12729del IARC TP53 deletion exon 1 TP53_g.12398_12399ins3 NM_000546:g.12398_12399ins3 IARC TP53 insertion exon 1 TP53_g.11467C>T NM_000546:g.11467C>T IARC TP53 substitution exon 1 TP53_g.11548_11605del NM_000546:g.11548_11605del IARC TP53 deletion exon 1 TP53_g.17935T>A NM_000546:g.17935T>A IARC TP53 substitution exon 1 TP53_g.13407_13418del NM_000546:g.13407_13418del IARC TP53 deletion exon 1 TP53_g.11020G>T NM_000546:g.11020G>T IARC TP53 substitution exon 1 TP53_g.11582_11592del NM_000546:g.11582_11592del IARC TP53 deletion exon 1 TP53_g.12634_12660del NM_000546:g.12634_12660del IARC TP53 deletion exon 1 TP53_g.14044T>A NM_000546:g.14044T>A IARC TP53 substitution exon 1 TP53_g.12421_12427del NM_000546:g.12421_12427del IARC TP53 deletion exon 1 TP53_g.12634G>T NM_000546:g.12634G>T IARC TP53 substitution exon 1 TP53_g.12425_12426delinsA NM_000546:g.12425_12426delinsA IARC TP53 complex exon 1 TP53_g.11560G>A NM_000546:g.11560G>A IARC TP53 substitution exon 1 TP53_g.11495C>T NM_000546:g.11495C>T IARC TP53 substitution exon 1 TP53_g.12717G>T NM_000546:g.12717G>T IARC TP53 substitution exon 1 TP53_g.12502_12518del NM_000546:g.12502_12518del IARC TP53 deletion exon 1 TP53_g.13838A>T NM_000546:g.13838A>T IARC TP53 substitution exon 1 TP53_g.13778_13779ins1 NM_000546:g.13778_13779ins1 IARC TP53 insertion exon 1 TP53_g.13847del NM_000546:g.13847del IARC TP53 deletion exon 1 TP53_g.14023del NM_000546:g.14023del IARC TP53 deletion exon 1 TP53_g.11492_11517del NM_000546:g.11492_11517del IARC TP53 deletion exon 1 TP53_g.12681_12682ins7 NM_000546:g.12681_12682ins7 IARC TP53 insertion exon 1 TP53_g.13375del NM_000546:g.13375del IARC TP53 deletion exon 1 TP53_g.12462C>G NM_000546:g.12462C>G IARC TP53 substitution exon 1 TP53_g.12507G>C NM_000546:g.12507G>C IARC TP53 substitution exon 1 TP53_g.12738T>A NM_000546:g.12738T>A IARC TP53 substitution exon 1 TP53_g.12738_12739ins1 NM_000546:g.12738_12739ins1 IARC TP53 insertion exon 1 TP53_g.12418_12420delinsAAA NM_000546:g.12418_12420delinsAAA IARC TP53 complex exon 1 TP53_g.13840A>C NM_000546:g.13840A>C IARC TP53 substitution exon 1 TP53_g.12463_12464delinsAG NM_000546:g.12463_12464delinsAG IARC TP53 complex exon 1 TP53_g.12539A>T NM_000546:g.12539A>T IARC TP53 substitution exon 1 TP53_g.12400_12416del NM_000546:g.12400_12416del IARC TP53 deletion exon 1 TP53_g.12368_12375del NM_000546:g.12368_12375del IARC TP53 deletion exon 1 TP53_g.11334del NM_000546:g.11334del IARC TP53 deletion exon 1 TP53_g.17021A>T NM_000546:g.17021A>T IARC TP53 substitution intron 1 TP53_g.12696A>T NM_000546:g.12696A>T IARC TP53 substitution exon 1 TP53_g.12688G>T NM_000546:g.12688G>T IARC TP53 substitution exon 1 TP53_g.11505del NM_000546:g.11505del IARC TP53 deletion exon 1 TP53_g.13775G>C NM_000546:g.13775G>C IARC TP53 substitution exon 1 TP53_g.12409_12411delinsGCG NM_000546:g.12409_12411delinsGCG IARC TP53 complex exon 1 TP53_g.11448G>C NM_000546:g.11448G>C IARC TP53 substitution exon 1 TP53_g.12468_12469ins1 NM_000546:g.12468_12469ins1 IARC TP53 insertion exon 1 TP53_g.16948G>A NM_000546:g.16948G>A IARC TP53 substitution exon 1 TP53_g.13782_13783delinsTT NM_000546:g.13782_13783delinsTT IARC TP53 complex exon 1 TP53_g.16957del NM_000546:g.16957del IARC TP53 deletion exon 1 TP53_g.12542_12543delinsCG NM_000546:g.12542_12543delinsCG IARC TP53 complex exon 1 TP53_g.13854A>G NM_000546:g.13854A>G IARC TP53 substitution exon 1 TP53_g.11441T>G NM_000546:g.11441T>G IARC TP53 substitution exon 1 TP53_g.12444del NM_000546:g.12444del IARC TP53 deletion exon 1 TP53_g.13348_13349ins1 NM_000546:g.13348_13349ins1 IARC TP53 insertion exon 1 TP53_g.12423_12426del NM_000546:g.12423_12426del IARC TP53 deletion exon 1 TP53_g.13305C>G NM_000546:g.13305C>G IARC TP53 substitution intron 1 TP53_g.12530del NM_000546:g.12530del IARC TP53 deletion exon 1 TP53_g.12463_12489del NM_000546:g.12463_12489del IARC TP53 deletion exon 1 TP53_g.12468_12469ins2 NM_000546:g.12468_12469ins2 IARC TP53 insertion exon 1 TP53_g.12547_12551del NM_000546:g.12547_12551del IARC TP53 deletion exon 1 TP53_g.13862G>T NM_000546:g.13862G>T IARC TP53 substitution exon 1 TP53_g.16987T>G NM_000546:g.16987T>G IARC TP53 substitution exon 1 TP53_g.16930G>A NM_000546:g.16930G>A IARC TP53 substitution exon 1 TP53_g.11203_11209delinsAG NM_000546:g.11203_11209delinsAG IARC TP53 complex exon 1 TP53_g.14005_14006ins1 NM_000546:g.14005_14006ins1 IARC TP53 insertion exon 1 TP53_g.13779C>A NM_000546:g.13779C>A IARC TP53 substitution exon 1 TP53_g.14039C>A NM_000546:g.14039C>A IARC TP53 substitution exon 1 TP53_g.12716_12725del NM_000546:g.12716_12725del IARC TP53 deletion exon 1 TP53_g.13359_13360del NM_000546:g.13359_13360del IARC TP53 deletion exon 1 TP53_g.13788_13797del NM_000546:g.13788_13797del IARC TP53 deletion exon 1 TP53_g.11410C>A NM_000546:g.11410C>A IARC TP53 substitution exon 1 TP53_g.12650_12678del NM_000546:g.12650_12678del IARC TP53 deletion exon 1 TP53_g.12486A>G NM_000546:g.12486A>G IARC TP53 substitution exon 1 TP53_g.13797_13799delinsTCG NM_000546:g.13797_13799delinsTCG IARC TP53 complex exon 1 TP53_g.12700A>C NM_000546:g.12700A>C IARC TP53 substitution exon 1 TP53_g.13341_13342delinsTG NM_000546:g.13341_13342delinsTG IARC TP53 complex exon 1 TP53_g.13402C>A NM_000546:g.13402C>A IARC TP53 substitution exon 1 TP53_g.12531_12532ins1 NM_000546:g.12531_12532ins1 IARC TP53 insertion exon 1 TP53_g.11442_11447del NM_000546:g.11442_11447del IARC TP53 deletion exon 1 TP53_g.14064A>G NM_000546:g.14064A>G IARC TP53 substitution exon 1 TP53_g.13824_13826del NM_000546:g.13824_13826del IARC TP53 deletion exon 1 TP53_g.12452_12453ins1 NM_000546:g.12452_12453ins1 IARC TP53 insertion exon 1 TP53_g.13345_13346ins1 NM_000546:g.13345_13346ins1 IARC TP53 insertion exon 1 TP53_g.13327_13328ins1 NM_000546:g.13327_13328ins1 IARC TP53 insertion exon 1 TP53_g.12632T>C NM_000546:g.12632T>C IARC TP53 substitution exon 1 TP53_g.13373_13396del NM_000546:g.13373_13396del IARC TP53 deletion exon 1 TP53_g.12486_12487ins3 NM_000546:g.12486_12487ins3 IARC TP53 insertion exon 1 TP53_g.13342del NM_000546:g.13342del IARC TP53 deletion exon 1 TP53_g.13993A>T NM_000546:g.13993A>T IARC TP53 substitution exon 1 TP53_g.12370_12372del NM_000546:g.12370_12372del IARC TP53 deletion exon 1 TP53_g.12391_12396del NM_000546:g.12391_12396del IARC TP53 deletion exon 1 TP53_g.12429T>A NM_000546:g.12429T>A IARC TP53 substitution exon 1 TP53_g.12512_12523del NM_000546:g.12512_12523del IARC TP53 deletion exon 1 TP53_g.12669T>C NM_000546:g.12669T>C IARC TP53 substitution exon 1 TP53_g.12413C>G NM_000546:g.12413C>G IARC TP53 substitution exon 1 TP53_g.12480del NM_000546:g.12480del IARC TP53 deletion exon 1 TP53_g.12683_12687del NM_000546:g.12683_12687del IARC TP53 deletion exon 1 TP53_g.12380_12384del NM_000546:g.12380_12384del IARC TP53 deletion exon 1 TP53_g.13329del NM_000546:g.13329del IARC TP53 deletion exon 1 TP53_g.13895G>A NM_000546:g.13895G>A IARC TP53 substitution exon 1 TP53_g.13784C>A NM_000546:g.13784C>A IARC TP53 substitution exon 1 TP53_g.13291G>A NM_000546:g.13291G>A IARC TP53 substitution intron 1 TP53_g.13892T>C NM_000546:g.13892T>C IARC TP53 substitution exon 1 TP53_g.12714_12738del NM_000546:g.12714_12738del IARC TP53 deletion exon 1 TP53_g.11477_11478ins76 NM_000546:g.11477_11478ins76 IARC TP53 insertion exon 1 TP53_g.12517_12520del NM_000546:g.12517_12520del IARC TP53 deletion exon 1 TP53_g.13430A>T NM_000546:g.13430A>T IARC TP53 substitution intron 1 TP53_g.11454del NM_000546:g.11454del IARC TP53 deletion exon 1 TP53_g.12356_12357ins1 NM_000546:g.12356_12357ins1 IARC TP53 insertion intron 1 TP53_g.13815_13824del NM_000546:g.13815_13824del IARC TP53 deletion exon 1 TP53_g.13998C>G NM_000546:g.13998C>G IARC TP53 substitution exon 1 TP53_g.13318T>C NM_000546:g.13318T>C IARC TP53 substitution exon 1 TP53_g.14028A>G NM_000546:g.14028A>G IARC TP53 substitution exon 1 TP53_g.13833_13855del NM_000546:g.13833_13855del IARC TP53 deletion exon 1 TP53_g.12380A>C NM_000546:g.12380A>C IARC TP53 substitution exon 1 TP53_g.14008C>T NM_000546:g.14008C>T IARC TP53 substitution exon 1 TP53_g.13835G>T NM_000546:g.13835G>T IARC TP53 substitution exon 1 TP53_g.11376G>A NM_000546:g.11376G>A IARC TP53 substitution exon 1 TP53_g.12423_12449del NM_000546:g.12423_12449del IARC TP53 deletion exon 1 TP53_g.12474_12481del NM_000546:g.12474_12481del IARC TP53 deletion exon 1 TP53_g.12442_12447del NM_000546:g.12442_12447del IARC TP53 deletion exon 1 TP53_g.11475C>T NM_000546:g.11475C>T IARC TP53 substitution exon 1 TP53_g.13803_13820del NM_000546:g.13803_13820del IARC TP53 deletion exon 1 TP53_g.12471del NM_000546:g.12471del IARC TP53 deletion exon 1 TP53_g.12382_12383del NM_000546:g.12382_12383del IARC TP53 deletion exon 1 TP53_g.12438_12452del NM_000546:g.12438_12452del IARC TP53 deletion exon 1 TP53_g.12668del NM_000546:g.12668del IARC TP53 deletion exon 1 TP53_g.12746G>A NM_000546:g.12746G>A IARC TP53 substitution intron 1 TP53_g.11545G>A NM_000546:g.11545G>A IARC TP53 substitution exon 1 TP53_g.11432_11444del NM_000546:g.11432_11444del IARC TP53 deletion exon 1 TP53_g.12441_12447del NM_000546:g.12441_12447del IARC TP53 deletion exon 1 TP53_g.12718_12728del NM_000546:g.12718_12728del IARC TP53 deletion exon 1 TP53_g.12736_12737del NM_000546:g.12736_12737del IARC TP53 deletion exon 1 TP53_g.12538_12541del NM_000546:g.12538_12541del IARC TP53 deletion exon 1 TP53_g.12450_12455del NM_000546:g.12450_12455del IARC TP53 deletion exon 1 TP53_g.13806_13820del NM_000546:g.13806_13820del IARC TP53 deletion exon 1 TP53_g.11364_11365del NM_000546:g.11364_11365del IARC TP53 deletion exon 1 TP53_g.12373_12381del NM_000546:g.12373_12381del IARC TP53 deletion exon 1 TP53_g.12407_12408delinsTT NM_000546:g.12407_12408delinsTT IARC TP53 complex exon 1 TP53_g.12445_12446delinsTT NM_000546:g.12445_12446delinsTT IARC TP53 complex exon 1 TP53_g.13764_13790del NM_000546:g.13764_13790del IARC TP53 deletion exon 1 TP53_g.12628_12629delinsAA NM_000546:g.12628_12629delinsAA IARC TP53 complex intron 1 TP53_g.12542del NM_000546:g.12542del IARC TP53 deletion exon 1 TP53_g.12713del NM_000546:g.12713del IARC TP53 deletion exon 1 TP53_g.13770C>G NM_000546:g.13770C>G IARC TP53 substitution exon 1 TP53_g.12703T>A NM_000546:g.12703T>A IARC TP53 substitution exon 1 TP53_g.12649_12650ins1 NM_000546:g.12649_12650ins1 IARC TP53 insertion exon 1 TP53_g.13781G>T NM_000546:g.13781G>T IARC TP53 substitution exon 1 TP53_g.12698A>C NM_000546:g.12698A>C IARC TP53 substitution exon 1 TP53_g.13862_13863ins1 NM_000546:g.13862_13863ins1 IARC TP53 insertion exon 1 TP53_g.12605T>G NM_000546:g.12605T>G IARC TP53 substitution intron 1 TP53_g.13999C>A NM_000546:g.13999C>A IARC TP53 substitution exon 1 TP53_g.12369C>G NM_000546:g.12369C>G IARC TP53 substitution exon 1 TP53_g.12456C>T NM_000546:g.12456C>T IARC TP53 substitution exon 1 TP53_g.12701C>G NM_000546:g.12701C>G IARC TP53 substitution exon 1 TP53_g.12736C>A NM_000546:g.12736C>A IARC TP53 substitution exon 1 TP53_g.12411_12413del NM_000546:g.12411_12413del IARC TP53 deletion exon 1 TP53_g.11589A>G NM_000546:g.11589A>G IARC TP53 substitution exon 1 TP53_g.13334_13358del NM_000546:g.13334_13358del IARC TP53 deletion exon 1 TP53_g.11478_11493del NM_000546:g.11478_11493del IARC TP53 deletion exon 1 TP53_g.11437C>T NM_000546:g.11437C>T IARC TP53 substitution exon 1 TP53_g.11515C>T NM_000546:g.11515C>T IARC TP53 substitution exon 1 TP53_g.14040T>C NM_000546:g.14040T>C IARC TP53 substitution exon 1 TP53_g.13310del NM_000546:g.13310del IARC TP53 deletion exon 1 TP53_g.16990del NM_000546:g.16990del IARC TP53 deletion exon 1 TP53_g.14013C>T NM_000546:g.14013C>T IARC TP53 substitution exon 1 TP53_g.12478_12479ins1 NM_000546:g.12478_12479ins1 IARC TP53 insertion exon 1 TP53_g.12453C>A NM_000546:g.12453C>A IARC TP53 substitution exon 1 TP53_g.12474_12475ins1 NM_000546:g.12474_12475ins1 IARC TP53 insertion exon 1 TP53_g.13793G>T NM_000546:g.13793G>T IARC TP53 substitution exon 1 TP53_g.13763_13764ins3 NM_000546:g.13763_13764ins3 IARC TP53 insertion exon 1 TP53_g.12393_12394ins18 NM_000546:g.12393_12394ins18 IARC TP53 insertion exon 1 TP53_g.12502_12510del NM_000546:g.12502_12510del IARC TP53 deletion exon 1 TP53_g.12412_12420del NM_000546:g.12412_12420del IARC TP53 deletion exon 1 TP53_g.13414_13419del NM_000546:g.13414_13419del IARC TP53 deletion exon 1 TP53_g.12691_12692delinsAT NM_000546:g.12691_12692delinsAT IARC TP53 complex exon 1 TP53_g.14061del NM_000546:g.14061del IARC TP53 deletion exon 1 TP53_g.11601_11602ins1 NM_000546:g.11601_11602ins1 IARC TP53 insertion exon 1 TP53_g.11602G>C NM_000546:g.11602G>C IARC TP53 substitution exon 1 TP53_g.13853del NM_000546:g.13853del IARC TP53 deletion exon 1 TP53_g.11526T>C NM_000546:g.11526T>C IARC TP53 substitution exon 1 TP53_g.16904del NM_000546:g.16904del IARC TP53 deletion exon 1 TP53_g.13324_13325ins3 NM_000546:g.13324_13325ins3 IARC TP53 insertion exon 1 TP53_g.12351C>T NM_000546:g.12351C>T IARC TP53 substitution intron 1 TP53_g.11487_11499del NM_000546:g.11487_11499del IARC TP53 deletion exon 1 TP53_g.12652A>C NM_000546:g.12652A>C IARC TP53 substitution exon 1 TP53_g.12444G>T NM_000546:g.12444G>T IARC TP53 substitution exon 1 TP53_g.12543C>T NM_000546:g.12543C>T IARC TP53 substitution exon 1 TP53_g.12453del NM_000546:g.12453del IARC TP53 deletion exon 1 TP53_g.12476A>T NM_000546:g.12476A>T IARC TP53 substitution exon 1 TP53_g.12519C>A NM_000546:g.12519C>A IARC TP53 substitution exon 1 TP53_g.12658_12659ins1 NM_000546:g.12658_12659ins1 IARC TP53 insertion exon 1 TP53_g.13362_13373del NM_000546:g.13362_13373del IARC TP53 deletion exon 1 TP53_g.13995_14035del NM_000546:g.13995_14035del IARC TP53 deletion exon 1 TP53_g.12702T>A NM_000546:g.12702T>A IARC TP53 substitution exon 1 TP53_g.11544G>A NM_000546:g.11544G>A IARC TP53 substitution exon 1 TP53_g.12461_12462ins3 NM_000546:g.12461_12462ins3 IARC TP53 insertion exon 1 TP53_g.12539_12542del NM_000546:g.12539_12542del IARC TP53 deletion exon 1 TP53_g.12629_12630ins1 NM_000546:g.12629_12630ins1 IARC TP53 insertion exon 1 TP53_g.12704_12705del NM_000546:g.12704_12705del IARC TP53 deletion exon 1 TP53_g.12738T>G NM_000546:g.12738T>G IARC TP53 substitution exon 1 TP53_g.13360C>G NM_000546:g.13360C>G IARC TP53 substitution exon 1 TP53_g.13341_13342ins3 NM_000546:g.13341_13342ins3 IARC TP53 insertion exon 1 TP53_g.13804del NM_000546:g.13804del IARC TP53 deletion exon 1 TP53_g.13806_13829del NM_000546:g.13806_13829del IARC TP53 deletion exon 1 TP53_g.13881_13882ins1 NM_000546:g.13881_13882ins1 IARC TP53 insertion exon 1 TP53_g.12668A>C NM_000546:g.12668A>C IARC TP53 substitution exon 1 TP53_g.13461C>T NM_000546:g.13461C>T IARC TP53 substitution intron 1 TP53_g.12490_12491ins1 NM_000546:g.12490_12491ins1 IARC TP53 insertion exon 1 TP53_g.12572G>A NM_000546:g.12572G>A IARC TP53 substitution intron 1 TP53_g.13321del NM_000546:g.13321del IARC TP53 deletion exon 1 TP53_g.13787C>A NM_000546:g.13787C>A IARC TP53 substitution exon 1 TP53_g.13443C>G NM_000546:g.13443C>G IARC TP53 substitution intron 1 TP53_g.13757G>A NM_000546:g.13757G>A IARC TP53 substitution intron 1 TP53_g.12637_12661del NM_000546:g.12637_12661del IARC TP53 deletion exon 1 TP53_g.12696_12697ins4 NM_000546:g.12696_12697ins4 IARC TP53 insertion exon 1 TP53_g.14055T>C NM_000546:g.14055T>C IARC TP53 substitution exon 1 TP53_g.13309_13310ins5 NM_000546:g.13309_13310ins5 IARC TP53 insertion exon 1 TP53_g.13310_13311ins69 NM_000546:g.13310_13311ins69 IARC TP53 insertion exon 1 TP53_g.16884_16885ins133 NM_000546:g.16884_16885ins133 IARC TP53 insertion exon 1 TP53_g.11484_11485del NM_000546:g.11484_11485del IARC TP53 deletion exon 1 TP53_g.12389_12406del NM_000546:g.12389_12406del IARC TP53 deletion exon 1 TP53_g.13310_13356del NM_000546:g.13310_13356del IARC TP53 deletion exon 1 TP53_g.13881_13889del NM_000546:g.13881_13889del IARC TP53 deletion exon 1 TP53_g.13871_13872ins17 NM_000546:g.13871_13872ins17 IARC TP53 insertion exon 1 TP53_g.12528G>T NM_000546:g.12528G>T IARC TP53 substitution exon 1 TP53_g.11570_11572del NM_000546:g.11570_11572del IARC TP53 deletion exon 1 TP53_g.11439G>A NM_000546:g.11439G>A IARC TP53 substitution exon 1 TP53_g.12515_12516delinsTT NM_000546:g.12515_12516delinsTT IARC TP53 complex exon 1 TP53_g.12377_12413del NM_000546:g.12377_12413del IARC TP53 deletion exon 1 TP53_g.11033G>A NM_000546:g.11033G>A IARC TP53 substitution exon 1 TP53_g.11550_11552delinsCAA NM_000546:g.11550_11552delinsCAA IARC TP53 complex exon 1 TP53_g.11604A>C NM_000546:g.11604A>C IARC TP53 substitution exon 1 TP53_g.11593del NM_000546:g.11593del IARC TP53 deletion exon 1 TP53_g.12628del NM_000546:g.12628del IARC TP53 deletion intron 1 TP53_g.12668_12669ins1 NM_000546:g.12668_12669ins1 IARC TP53 insertion exon 1 TP53_g.16921_16933del NM_000546:g.16921_16933del IARC TP53 deletion exon 1 TP53_g.12390T>C NM_000546:g.12390T>C IARC TP53 substitution exon 1 TP53_g.12733C>G NM_000546:g.12733C>G IARC TP53 substitution exon 1 TP53_g.14056C>T NM_000546:g.14056C>T IARC TP53 substitution exon 1 TP53_g.13864C>A NM_000546:g.13864C>A IARC TP53 substitution exon 1 TP53_g.12737C>G NM_000546:g.12737C>G IARC TP53 substitution exon 1 TP53_g.13342C>T NM_000546:g.13342C>T IARC TP53 substitution exon 1 TP53_g.12715_12719del NM_000546:g.12715_12719del IARC TP53 deletion exon 1 TP53_g.11505C>G NM_000546:g.11505C>G IARC TP53 substitution exon 1 TP53_g.14061T>C NM_000546:g.14061T>C IARC TP53 substitution exon 1 TP53_g.12424T>A NM_000546:g.12424T>A IARC TP53 substitution exon 1 TP53_g.11587C>A NM_000546:g.11587C>A IARC TP53 substitution exon 1 TP53_g.12468_12469delinsAA NM_000546:g.12468_12469delinsAA IARC TP53 complex exon 1 TP53_g.13342_13343delinsTG NM_000546:g.13342_13343delinsTG IARC TP53 complex exon 1 TP53_g.13401_13402delinsAT NM_000546:g.13401_13402delinsAT IARC TP53 complex exon 1 TP53_g.11448G>A NM_000546:g.11448G>A IARC TP53 substitution exon 1 TP53_g.12453_12472del NM_000546:g.12453_12472del IARC TP53 deletion exon 1 TP53_g.11562C>A NM_000546:g.11562C>A IARC TP53 substitution exon 1 TP53_g.12551A>C NM_000546:g.12551A>C IARC TP53 substitution intron 1 TP53_g.12359_12360del NM_000546:g.12359_12360del IARC TP53 deletion intron 1 TP53_g.12399_12413del NM_000546:g.12399_12413del IARC TP53 deletion exon 1 TP53_g.12625T>A NM_000546:g.12625T>A IARC TP53 substitution intron 1 TP53_g.17908A>C NM_000546:g.17908A>C IARC TP53 substitution intron 1 TP53_g.12678_12679delinsTT NM_000546:g.12678_12679delinsTT IARC TP53 complex exon 1 TP53_g.11498del NM_000546:g.11498del IARC TP53 deletion exon 1 TP53_g.12527del NM_000546:g.12527del IARC TP53 deletion exon 1 TP53_g.17974G>T NM_000546:g.17974G>T IARC TP53 substitution exon 1 TP53_g.13763_14162del NM_000546:g.13763_14162del IARC TP53 deletion exon 1 TP53_g.14035_14036ins2 NM_000546:g.14035_14036ins2 IARC TP53 insertion exon 1 TP53_g.12360_12372del NM_000546:g.12360_12372del IARC TP53 deletion intron 1 TP53_g.12402del NM_000546:g.12402del IARC TP53 deletion exon 1 TP53_g.12390_12391del NM_000546:g.12390_12391del IARC TP53 deletion exon 1 TP53_g.13814_13815delinsA NM_000546:g.13814_13815delinsA IARC TP53 complex exon 1 TP53_g.12632_12643del NM_000546:g.12632_12643del IARC TP53 deletion exon 1 TP53_g.13992_13998del NM_000546:g.13992_13998del IARC TP53 deletion exon 1 TP53_g.11553_11555del NM_000546:g.11553_11555del IARC TP53 deletion exon 1 TP53_g.11451_11457del NM_000546:g.11451_11457del IARC TP53 deletion exon 1 TP53_g.13333_13343del NM_000546:g.13333_13343del IARC TP53 deletion exon 1 TP53_g.11006_12187del NM_000546:g.11006_12187del IARC TP53 deletion exon 1 TP53_g.11456_11457ins1 NM_000546:g.11456_11457ins1 IARC TP53 insertion exon 1 TP53_g.11335_11336ins1 NM_000546:g.11335_11336ins1 IARC TP53 insertion exon 1 TP53_g.12641del NM_000546:g.12641del IARC TP53 deletion exon 1 TP53_g.16974del NM_000546:g.16974del IARC TP53 deletion exon 1 TP53_g.13420_13556del NM_000546:g.13420_13556del IARC TP53 deletion intron 1 TP53_g.12394_12395ins1 NM_000546:g.12394_12395ins1 IARC TP53 insertion exon 1 TP53_g.11385_11386ins3 NM_000546:g.11385_11386ins3 IARC TP53 insertion exon 1 TP53_g.11591G>T NM_000546:g.11591G>T IARC TP53 substitution exon 1 TP53_g.13388_13389ins1 NM_000546:g.13388_13389ins1 IARC TP53 insertion exon 1 TP53_g.11565_11597del NM_000546:g.11565_11597del IARC TP53 deletion exon 1 TP53_g.13334_13336del NM_000546:g.13334_13336del IARC TP53 deletion exon 1 TP53_g.12712_12714del NM_000546:g.12712_12714del IARC TP53 deletion exon 1 TP53_g.12517C>A NM_000546:g.12517C>A IARC TP53 substitution exon 1 TP53_g.16884G>C NM_000546:g.16884G>C IARC TP53 substitution intron 1 TP53_g.14025_14043del NM_000546:g.14025_14043del IARC TP53 deletion exon 1 TP53_g.11052A>T NM_000546:g.11052A>T IARC TP53 substitution exon 1 TP53_g.13363del NM_000546:g.13363del IARC TP53 deletion exon 1 TP53_g.14001_14002ins1 NM_000546:g.14001_14002ins1 IARC TP53 insertion exon 1 TP53_g.11589A>T NM_000546:g.11589A>T IARC TP53 substitution exon 1 TP53_g.13829_13830del NM_000546:g.13829_13830del IARC TP53 deletion exon 1 TP53_g.17955del NM_000546:g.17955del IARC TP53 deletion exon 1 TP53_g.12513_12514ins4 NM_000546:g.12513_12514ins4 IARC TP53 insertion exon 1 TP53_g.13318del NM_000546:g.13318del IARC TP53 deletion exon 1 TP53_g.12426_12434del NM_000546:g.12426_12434del IARC TP53 deletion exon 1 TP53_g.14067T>G NM_000546:g.14067T>G IARC TP53 substitution intron 1 TP53_g.14014del NM_000546:g.14014del IARC TP53 deletion exon 1 TP53_g.11590del NM_000546:g.11590del IARC TP53 deletion exon 1 TP53_g.13419G>C NM_000546:g.13419G>C IARC TP53 substitution exon 1 TP53_g.11333del NM_000546:g.11333del IARC TP53 deletion exon 1 TP53_g.13859_13860delinsCT NM_000546:g.13859_13860delinsCT IARC TP53 complex exon 1 TP53_g.11376G>T NM_000546:g.11376G>T IARC TP53 substitution exon 1 TP53_g.12739_12740ins5 NM_000546:g.12739_12740ins5 IARC TP53 insertion exon 1 TP53_g.13790del NM_000546:g.13790del IARC TP53 deletion exon 1 TP53_g.12682_12684del NM_000546:g.12682_12684del IARC TP53 deletion exon 1 TP53_g.30003_30302del NM_000546:g.30003_30302del IARC TP53 deletion intron 1 TP53_g.12463_12464delinsTT NM_000546:g.12463_12464delinsTT IARC TP53 complex exon 1 TP53_g.11603C>A NM_000546:g.11603C>A IARC TP53 substitution exon 1 TP53_g.11080G>A NM_000546:g.11080G>A IARC TP53 substitution intron 1 TP53_g.11081T>C NM_000546:g.11081T>C IARC TP53 substitution intron 1 TP53_g.13795_13796del NM_000546:g.13795_13796del IARC TP53 deletion exon 1 TP53_g.13349_13362del NM_000546:g.13349_13362del IARC TP53 deletion exon 1 TP53_g.11326A>G NM_000546:g.11326A>G IARC TP53 substitution intron 1 TP53_g.11352_11356del NM_000546:g.11352_11356del IARC TP53 deletion exon 1 TP53_g.14057_14078del NM_000546:g.14057_14078del IARC TP53 deletion exon 1 TP53_g.16906_16910del NM_000546:g.16906_16910del IARC TP53 deletion exon 1 TP53_g.12497del NM_000546:g.12497del IARC TP53 deletion exon 1 TP53_g.16888del NM_000546:g.16888del IARC TP53 deletion exon 1 TP53_g.12478_12492del NM_000546:g.12478_12492del IARC TP53 deletion exon 1 TP53_g.16884G>A NM_000546:g.16884G>A IARC TP53 substitution intron 1 TP53_g.11477_11478ins8 NM_000546:g.11477_11478ins8 IARC TP53 insertion exon 1 TP53_g.11558_11559ins4 NM_000546:g.11558_11559ins4 IARC TP53 insertion exon 1 TP53_g.11465_11466delinsGA NM_000546:g.11465_11466delinsGA IARC TP53 complex exon 1 TP53_g.13784del NM_000546:g.13784del IARC TP53 deletion exon 1 TP53_g.12649_12651del NM_000546:g.12649_12651del IARC TP53 deletion exon 1 TP53_g.13848_13849ins1 NM_000546:g.13848_13849ins1 IARC TP53 insertion exon 1 TP53_g.12485_12486ins10 NM_000546:g.12485_12486ins10 IARC TP53 insertion exon 1 TP53_g.13422C>T NM_000546:g.13422C>T IARC TP53 substitution intron 1 TP53_g.13341_13346del NM_000546:g.13341_13346del IARC TP53 deletion exon 1 TP53_g.13382_13384del NM_000546:g.13382_13384del IARC TP53 deletion exon 1 TP53_g.13405del NM_000546:g.13405del IARC TP53 deletion exon 1 TP53_g.14015T>C NM_000546:g.14015T>C IARC TP53 substitution exon 1 TP53_g.13335_13336del NM_000546:g.13335_13336del IARC TP53 deletion exon 1 TP53_g.14059C>T NM_000546:g.14059C>T IARC TP53 substitution exon 1 TP53_g.12354C>T NM_000546:g.12354C>T IARC TP53 substitution intron 1 TP53_g.11445C>T NM_000546:g.11445C>T IARC TP53 substitution exon 1 TP53_g.13414del NM_000546:g.13414del IARC TP53 deletion exon 1 TP53_g.11460del NM_000546:g.11460del IARC TP53 deletion exon 1 TP53_g.14065G>A NM_000546:g.14065G>A IARC TP53 substitution exon 1 TP53_g.12454_12455ins1 NM_000546:g.12454_12455ins1 IARC TP53 insertion exon 1 TP53_g.12367_12396del NM_000546:g.12367_12396del IARC TP53 deletion exon 1 TP53_g.13412_13413delinsAG NM_000546:g.13412_13413delinsAG IARC TP53 complex exon 1 TP53_g.12641_12642ins2 NM_000546:g.12641_12642ins2 IARC TP53 insertion exon 1 TP53_g.12681G>C NM_000546:g.12681G>C IARC TP53 substitution exon 1 TP53_g.13994C>G NM_000546:g.13994C>G IARC TP53 substitution exon 1 TP53_g.14039C>G NM_000546:g.14039C>G IARC TP53 substitution exon 1 TP53_g.12417_12418del NM_000546:g.12417_12418del IARC TP53 deletion exon 1 TP53_g.14005C>G NM_000546:g.14005C>G IARC TP53 substitution exon 1 TP53_g.14017T>G NM_000546:g.14017T>G IARC TP53 substitution exon 1 TP53_g.12639_12641del NM_000546:g.12639_12641del IARC TP53 deletion exon 1 TP53_g.13820_13825del NM_000546:g.13820_13825del IARC TP53 deletion exon 1 TP53_g.12672_12673ins4 NM_000546:g.12672_12673ins4 IARC TP53 insertion exon 1 TP53_g.17985_17988del NM_000546:g.17985_17988del IARC TP53 deletion exon 1 TP53_g.12614A>T NM_000546:g.12614A>T IARC TP53 substitution intron 1 TP53_g.14042G>T NM_000546:g.14042G>T IARC TP53 substitution exon 1 TP53_g.12480_12481delinsTT NM_000546:g.12480_12481delinsTT IARC TP53 complex exon 1 TP53_g.12464_12466del NM_000546:g.12464_12466del IARC TP53 deletion exon 1 TP53_g.14031_14038del NM_000546:g.14031_14038del IARC TP53 deletion exon 1 TP53_g.14026_14029del NM_000546:g.14026_14029del IARC TP53 deletion exon 1 TP53_g.12655C>G NM_000546:g.12655C>G IARC TP53 substitution exon 1 TP53_g.13994C>T NM_000546:g.13994C>T IARC TP53 substitution exon 1 TP53_g.13830del NM_000546:g.13830del IARC TP53 deletion exon 1 TP53_g.13875C>T NM_000546:g.13875C>T IARC TP53 substitution exon 1 TP53_g.13920G>A NM_000546:g.13920G>A IARC TP53 substitution intron 1 TP53_g.12578G>A NM_000546:g.12578G>A IARC TP53 substitution intron 1 TP53_g.13316T>C NM_000546:g.13316T>C IARC TP53 substitution exon 1 TP53_g.13407del NM_000546:g.13407del IARC TP53 deletion exon 1 TP53_g.13820_13821ins4 NM_000546:g.13820_13821ins4 IARC TP53 insertion exon 1 TP53_g.12740_12741ins1 NM_000546:g.12740_12741ins1 IARC TP53 insertion exon 1 TP53_g.13418_13423del NM_000546:g.13418_13423del IARC TP53 deletion exon 1 TP53_g.12679G>C NM_000546:g.12679G>C IARC TP53 substitution exon 1 TP53_g.11535_11537del NM_000546:g.11535_11537del IARC TP53 deletion exon 1 TP53_g.11559_11561del NM_000546:g.11559_11561del IARC TP53 deletion exon 1 TP53_g.13299T>C NM_000546:g.13299T>C IARC TP53 substitution intron 1 TP53_g.13763T>A NM_000546:g.13763T>A IARC TP53 substitution exon 1 TP53_g.11375C>T NM_000546:g.11375C>T IARC TP53 substitution exon 1 TP53_g.13409_13411del NM_000546:g.13409_13411del IARC TP53 deletion exon 1 TP53_g.16941del NM_000546:g.16941del IARC TP53 deletion exon 1 TP53_g.13859_13860del NM_000546:g.13859_13860del IARC TP53 deletion exon 1 TP53_g.13335del NM_000546:g.13335del IARC TP53 deletion exon 1 TP53_g.11384A>G NM_000546:g.11384A>G IARC TP53 substitution exon 1 TP53_g.11387A>T NM_000546:g.11387A>T IARC TP53 substitution exon 1 TP53_g.11393C>A NM_000546:g.11393C>A IARC TP53 substitution exon 1 TP53_g.11432A>G NM_000546:g.11432A>G IARC TP53 substitution exon 1 TP53_g.11520G>A NM_000546:g.11520G>A IARC TP53 substitution exon 1 TP53_g.11531_11532ins1 NM_000546:g.11531_11532ins1 IARC TP53 insertion exon 1 TP53_g.13767_13769delinsTAG NM_000546:g.13767_13769delinsTAG IARC TP53 complex exon 1 TP53_g.13456T>A NM_000546:g.13456T>A IARC TP53 substitution intron 1 TP53_g.12714_12715ins3 NM_000546:g.12714_12715ins3 IARC TP53 insertion exon 1 TP53_g.12499_12525del NM_000546:g.12499_12525del IARC TP53 deletion exon 1 TP53_g.12657A>C NM_000546:g.12657A>C IARC TP53 substitution exon 1 TP53_g.12501_12527del NM_000546:g.12501_12527del IARC TP53 deletion exon 1 TP53_g.12454_12474del NM_000546:g.12454_12474del IARC TP53 deletion exon 1 TP53_g.30019del NM_000546:g.30019del IARC TP53 deletion exon 1 TP53_g.11219G>A NM_000546:g.11219G>A IARC TP53 substitution intron 1 TP53_g.13823_13824delinsAT NM_000546:g.13823_13824delinsAT IARC TP53 complex exon 1 TP53_g.14001A>T NM_000546:g.14001A>T IARC TP53 substitution exon 1 TP53_g.14004A>G NM_000546:g.14004A>G IARC TP53 substitution exon 1 TP53_g.14004A>C NM_000546:g.14004A>C IARC TP53 substitution exon 1 TP53_g.14023G>T NM_000546:g.14023G>T IARC TP53 substitution exon 1 TP53_g.30015_30030del NM_000546:g.30015_30030del IARC TP53 deletion exon 1 TP53_g.30014_30019del NM_000546:g.30014_30019del IARC TP53 deletion exon 1 TP53_g.14064_14065ins1 NM_000546:g.14064_14065ins1 IARC TP53 insertion exon 1 TP53_g.11367T>C NM_000546:g.11367T>C IARC TP53 substitution exon 1 TP53_g.12446C>G NM_000546:g.12446C>G IARC TP53 substitution exon 1 TP53_g.11609C>T NM_000546:g.11609C>T IARC TP53 substitution intron 1 TP53_g.11625C>T NM_000546:g.11625C>T IARC TP53 substitution intron 1 TP53_g.12468_12469delinsCC NM_000546:g.12468_12469delinsCC IARC TP53 complex exon 1 TP53_g.11527C>T NM_000546:g.11527C>T IARC TP53 substitution exon 1 TP53_g.11534A>G NM_000546:g.11534A>G IARC TP53 substitution exon 1 TP53_g.11568T>A NM_000546:g.11568T>A IARC TP53 substitution exon 1 TP53_g.12726_12737del NM_000546:g.12726_12737del IARC TP53 deletion exon 1 TP53_g.12758G>A NM_000546:g.12758G>A IARC TP53 substitution intron 1 TP53_g.12477del NM_000546:g.12477del IARC TP53 deletion exon 1 TP53_g.12375_12386del NM_000546:g.12375_12386del IARC TP53 deletion exon 1 TP53_g.12681G>T NM_000546:g.12681G>T IARC TP53 substitution exon 1 TP53_g.12700A>T NM_000546:g.12700A>T IARC TP53 substitution exon 1 TP53_g.13368_13369ins1 NM_000546:g.13368_13369ins1 IARC TP53 insertion exon 1 TP53_g.13370_13371ins1 NM_000546:g.13370_13371ins1 IARC TP53 insertion exon 1 TP53_g.13377_13378ins1 NM_000546:g.13377_13378ins1 IARC TP53 insertion exon 1 TP53_g.13391C>A NM_000546:g.13391C>A IARC TP53 substitution exon 1 TP53_g.13814T>A NM_000546:g.13814T>A IARC TP53 substitution exon 1 TP53_g.12502_12503ins7 NM_000546:g.12502_12503ins7 IARC TP53 insertion exon 1 TP53_g.13769_13781del NM_000546:g.13769_13781del IARC TP53 deletion exon 1 TP53_g.12422_12423ins2 NM_000546:g.12422_12423ins2 IARC TP53 insertion exon 1 TP53_g.13267_13277delinscccagagccca NM_000546:g.13267_13277delinscccagagccca IARC TP53 complex intron 1 TP53_g.12431A>G NM_000546:g.12431A>G IARC TP53 substitution exon 1 TP53_g.12662A>T NM_000546:g.12662A>T IARC TP53 substitution exon 1 TP53_g.13413A>C NM_000546:g.13413A>C IARC TP53 substitution exon 1 TP53_g.12427G>T NM_000546:g.12427G>T IARC TP53 substitution exon 1 TP53_g.12655_12656ins1 NM_000546:g.12655_12656ins1 IARC TP53 insertion exon 1 TP53_g.13402_13404del NM_000546:g.13402_13404del IARC TP53 deletion exon 1 TP53_g.13396del NM_000546:g.13396del IARC TP53 deletion exon 1 TP53_g.13401del NM_000546:g.13401del IARC TP53 deletion exon 1 TP53_g.12674_12675ins1 NM_000546:g.12674_12675ins1 IARC TP53 insertion exon 1 TP53_g.12709_12710ins1 NM_000546:g.12709_12710ins1 IARC TP53 insertion exon 1 TP53_g.12648T>G NM_000546:g.12648T>G IARC TP53 substitution exon 1 TP53_g.12687_12688del NM_000546:g.12687_12688del IARC TP53 deletion exon 1 TP53_g.14009A>C NM_000546:g.14009A>C IARC TP53 substitution exon 1 TP53_g.11505C>T NM_000546:g.11505C>T IARC TP53 substitution exon 1 TP53_g.17984_17985ins1 NM_000546:g.17984_17985ins1 IARC TP53 insertion exon 1 TP53_g.11022C>T NM_000546:g.11022C>T IARC TP53 substitution exon 1 TP53_g.11392T>A NM_000546:g.11392T>A IARC TP53 substitution exon 1 TP53_g.14058C>G NM_000546:g.14058C>G IARC TP53 substitution exon 1 TP53_g.11500C>A NM_000546:g.11500C>A IARC TP53 substitution exon 1 TP53_g.13824_13825ins1 NM_000546:g.13824_13825ins1 IARC TP53 insertion exon 1 TP53_g.13796G>T NM_000546:g.13796G>T IARC TP53 substitution exon 1 TP53_g.12375_12376ins1 NM_000546:g.12375_12376ins1 IARC TP53 insertion exon 1 TP53_g.12640_12645del NM_000546:g.12640_12645del IARC TP53 deletion exon 1 TP53_g.13324_13325del NM_000546:g.13324_13325del IARC TP53 deletion exon 1 TP53_g.13325_13339del NM_000546:g.13325_13339del IARC TP53 deletion exon 1 TP53_g.13773_13895del NM_000546:g.13773_13895del IARC TP53 deletion exon 1 TP53_g.14024_14038del NM_000546:g.14024_14038del IARC TP53 deletion exon 1 TP53_g.11054_11056del NM_000546:g.11054_11056del IARC TP53 deletion exon 1 TP53_g.11059_11065del NM_000546:g.11059_11065del IARC TP53 deletion exon 1 TP53_g.11498_11499ins1 NM_000546:g.11498_11499ins1 IARC TP53 insertion exon 1 TP53_g.12644A>C NM_000546:g.12644A>C IARC TP53 substitution exon 1 TP53_g.13796_13797ins7 NM_000546:g.13796_13797ins7 IARC TP53 insertion exon 1 TP53_g.11538_11564del NM_000546:g.11538_11564del IARC TP53 deletion exon 1 TP53_g.12377_12378delinsCT NM_000546:g.12377_12378delinsCT IARC TP53 complex exon 1 TP53_g.12393del NM_000546:g.12393del IARC TP53 deletion exon 1 TP53_g.12380_12381delinsGT NM_000546:g.12380_12381delinsGT IARC TP53 complex exon 1 TP53_g.12437_12438delinsAC NM_000546:g.12437_12438delinsAC IARC TP53 complex exon 1 TP53_g.12438A>T NM_000546:g.12438A>T IARC TP53 substitution exon 1 TP53_g.13861A>C NM_000546:g.13861A>C IARC TP53 substitution exon 1 TP53_g.13899_13900delinsTT NM_000546:g.13899_13900delinsTT IARC TP53 complex exon 1 TP53_g.13786_13787ins12 NM_000546:g.13786_13787ins12 IARC TP53 insertion exon 1 TP53_g.13431C>T NM_000546:g.13431C>T IARC TP53 substitution intron 1 TP53_g.12799C>T NM_000546:g.12799C>T IARC TP53 substitution intron 1 TP53_g.12555G>A NM_000546:g.12555G>A IARC TP53 substitution intron 1 TP53_g.11623G>A NM_000546:g.11623G>A IARC TP53 substitution intron 1 TP53_g.13450G>A NM_000546:g.13450G>A IARC TP53 substitution intron 1 TP53_g.13465G>A NM_000546:g.13465G>A IARC TP53 substitution intron 1 TP53_g.11584C>T NM_000546:g.11584C>T IARC TP53 substitution exon 1 TP53_g.11362T>C NM_000546:g.11362T>C IARC TP53 substitution exon 1 TP53_g.11602G>A NM_000546:g.11602G>A IARC TP53 substitution exon 1 TP53_g.12526_12527del NM_000546:g.12526_12527del IARC TP53 deletion exon 1 TP53_g.11460_11489del NM_000546:g.11460_11489del IARC TP53 deletion exon 1 TP53_g.11551A>G NM_000546:g.11551A>G IARC TP53 substitution exon 1 TP53_g.11604A>G NM_000546:g.11604A>G IARC TP53 substitution exon 1 TP53_g.11521T>C NM_000546:g.11521T>C IARC TP53 substitution exon 1 TP53_g.11361A>G NM_000546:g.11361A>G IARC TP53 substitution exon 1 TP53_g.11584C>G NM_000546:g.11584C>G IARC TP53 substitution exon 1 TP53_g.11651G>A NM_000546:g.11651G>A IARC TP53 substitution intron 1 TP53_g.11624G>A NM_000546:g.11624G>A IARC TP53 substitution intron 1 TP53_g.12407C>A NM_000546:g.12407C>A IARC TP53 substitution exon 1 TP53_g.12488_12489ins1 NM_000546:g.12488_12489ins1 IARC TP53 insertion exon 1 TP53_g.12500_12501delinsTC NM_000546:g.12500_12501delinsTC IARC TP53 complex exon 1 TP53_g.12487_12492delinsTACCTC NM_000546:g.12487_12492delinsTACCTC IARC TP53 complex exon 1 TP53_g.12646_12647ins1 NM_000546:g.12646_12647ins1 IARC TP53 insertion exon 1 TP53_g.13332_13333ins1 NM_000546:g.13332_13333ins1 IARC TP53 insertion exon 1 TP53_g.12529_12534delinsTGCTGT NM_000546:g.12529_12534delinsTGCTGT IARC TP53 complex exon 1 TP53_g.12491_12495delinsTCATT NM_000546:g.12491_12495delinsTCATT IARC TP53 complex exon 1 TP53_g.12699C>G NM_000546:g.12699C>G IARC TP53 substitution exon 1 TP53_g.12676_12681delinsCTGGTG NM_000546:g.12676_12681delinsCTGGTG IARC TP53 complex exon 1 TP53_g.12497_12498ins1 NM_000546:g.12497_12498ins1 IARC TP53 insertion exon 1 TP53_g.13377del NM_000546:g.13377del IARC TP53 deletion exon 1 TP53_g.12638del NM_000546:g.12638del IARC TP53 deletion exon 1 TP53_g.13380del NM_000546:g.13380del IARC TP53 deletion exon 1 TP53_g.13389_13390ins1 NM_000546:g.13389_13390ins1 IARC TP53 insertion exon 1 TP53_g.13881C>A NM_000546:g.13881C>A IARC TP53 substitution exon 1 TP53_g.13436C>A NM_000546:g.13436C>A IARC TP53 substitution intron 1 TP53_g.13438C>G NM_000546:g.13438C>G IARC TP53 substitution intron 1 TP53_g.11600del NM_000546:g.11600del IARC TP53 deletion exon 1 TP53_g.14058C>T NM_000546:g.14058C>T IARC TP53 substitution exon 1 TP53_g.13334_13363del NM_000546:g.13334_13363del IARC TP53 deletion exon 1 TP53_g.13429C>A NM_000546:g.13429C>A IARC TP53 substitution intron 1 TP53_g.16998G>T NM_000546:g.16998G>T IARC TP53 substitution intron 1 TP53_g.12735G>A NM_000546:g.12735G>A IARC TP53 substitution exon 1 TP53_g.13931G>T NM_000546:g.13931G>T IARC TP53 substitution intron 1 TP53_g.13754C>A NM_000546:g.13754C>A IARC TP53 substitution intron 1 TP53_g.13827_13836del NM_000546:g.13827_13836del IARC TP53 deletion exon 1 TP53_g.12552G>T NM_000546:g.12552G>T IARC TP53 substitution intron 1 TP53_g.13293C>A NM_000546:g.13293C>A IARC TP53 substitution intron 1 TP53_g.12715_12716ins1 NM_000546:g.12715_12716ins1 IARC TP53 insertion exon 1 TP53_g.11606G>C NM_000546:g.11606G>C IARC TP53 substitution exon 1 TP53_g.12755C>T NM_000546:g.12755C>T IARC TP53 substitution intron 1 TP53_g.12454_12462del NM_000546:g.12454_12462del IARC TP53 deletion exon 1 TP53_g.12441_12444del NM_000546:g.12441_12444del IARC TP53 deletion exon 1 TP53_g.11483_11493del NM_000546:g.11483_11493del IARC TP53 deletion exon 1 TP53_g.16916_16917del NM_000546:g.16916_16917del IARC TP53 deletion exon 1 TP53_g.11494del NM_000546:g.11494del IARC TP53 deletion exon 1 TP53_g.16906G>A NM_000546:g.16906G>A IARC TP53 substitution exon 1 TP53_g.16916del NM_000546:g.16916del IARC TP53 deletion exon 1 TP53_g.12521_12523del NM_000546:g.12521_12523del IARC TP53 deletion exon 1 TP53_g.16951C>A NM_000546:g.16951C>A IARC TP53 substitution exon 1 TP53_g.13298G>T NM_000546:g.13298G>T IARC TP53 substitution intron 1 TP53_g.13335A>C NM_000546:g.13335A>C IARC TP53 substitution exon 1 TP53_g.12738T>C NM_000546:g.12738T>C IARC TP53 substitution exon 1 TP53_g.11489_11511del NM_000546:g.11489_11511del IARC TP53 deletion exon 1 TP53_g.12440_12442del NM_000546:g.12440_12442del IARC TP53 deletion exon 1 TP53_g.12454_12471del NM_000546:g.12454_12471del IARC TP53 deletion exon 1 TP53_g.13369_13373del NM_000546:g.13369_13373del IARC TP53 deletion exon 1 TP53_g.13796_13797delinsTT NM_000546:g.13796_13797delinsTT IARC TP53 complex exon 1 TP53_g.12445_12456del NM_000546:g.12445_12456del IARC TP53 deletion exon 1 TP53_g.13895_13896delinsTT NM_000546:g.13895_13896delinsTT IARC TP53 complex exon 1 TP53_g.12540_12541ins4 NM_000546:g.12540_12541ins4 IARC TP53 insertion exon 1 TP53_g.12379_12384del NM_000546:g.12379_12384del IARC TP53 deletion exon 1 TP53_g.12374C>G NM_000546:g.12374C>G IARC TP53 substitution exon 1 TP53_g.13340del NM_000546:g.13340del IARC TP53 deletion exon 1 TP53_g.12680_12681ins1 NM_000546:g.12680_12681ins1 IARC TP53 insertion exon 1 TP53_g.12727_12728ins1 NM_000546:g.12727_12728ins1 IARC TP53 insertion exon 1 TP53_g.13376_13377delinsTT NM_000546:g.13376_13377delinsTT IARC TP53 complex exon 1 TP53_g.13377_13381delinsTTCCC NM_000546:g.13377_13381delinsTTCCC IARC TP53 complex exon 1 TP53_g.12677_12678ins1 NM_000546:g.12677_12678ins1 IARC TP53 insertion exon 1 TP53_g.13368del NM_000546:g.13368del IARC TP53 deletion exon 1 TP53_g.13413del NM_000546:g.13413del IARC TP53 deletion exon 1 TP53_g.11381_11388del NM_000546:g.11381_11388del IARC TP53 deletion exon 1 TP53_g.11361_11364del NM_000546:g.11361_11364del IARC TP53 deletion exon 1 TP53_g.11538_11552del NM_000546:g.11538_11552del IARC TP53 deletion exon 1 TP53_g.11541del NM_000546:g.11541del IARC TP53 deletion exon 1 TP53_g.11568_11570del NM_000546:g.11568_11570del IARC TP53 deletion exon 1 TP53_g.12378_12380del NM_000546:g.12378_12380del IARC TP53 deletion exon 1 TP53_g.12428_12457del NM_000546:g.12428_12457del IARC TP53 deletion exon 1 TP53_g.12742del NM_000546:g.12742del IARC TP53 deletion intron 1 TP53_g.14006_14007del NM_000546:g.14006_14007del IARC TP53 deletion exon 1 TP53_g.14048_14078del NM_000546:g.14048_14078del IARC TP53 deletion exon 1 TP53_g.14051_14052del NM_000546:g.14051_14052del IARC TP53 deletion exon 1 TP53_g.16919del NM_000546:g.16919del IARC TP53 deletion exon 1 TP53_g.11601T>G NM_000546:g.11601T>G IARC TP53 substitution exon 1 TP53_g.16906G>C NM_000546:g.16906G>C IARC TP53 substitution exon 1 TP53_g.17984C>T NM_000546:g.17984C>T IARC TP53 substitution exon 1 TP53_g.14063_14064ins2 NM_000546:g.14063_14064ins2 IARC TP53 insertion exon 1 TP53_g.13353_13364del NM_000546:g.13353_13364del IARC TP53 deletion exon 1 TP53_g.13985_13991del NM_000546:g.13985_13991del IARC TP53 deletion intron 1 TP53_g.13787_13789del NM_000546:g.13787_13789del IARC TP53 deletion exon 1 TP53_g.12724_12739del NM_000546:g.12724_12739del IARC TP53 deletion exon 1 TP53_g.12394_12397del NM_000546:g.12394_12397del IARC TP53 deletion exon 1 TP53_g.11542del NM_000546:g.11542del IARC TP53 deletion exon 1 TP53_g.11343del NM_000546:g.11343del IARC TP53 deletion exon 1 TP53_g.11510_11511ins7 NM_000546:g.11510_11511ins7 IARC TP53 insertion exon 1 TP53_g.11558_11559ins11 NM_000546:g.11558_11559ins11 IARC TP53 insertion exon 1 TP53_g.11589A>C NM_000546:g.11589A>C IARC TP53 substitution exon 1 TP53_g.13352_13373del NM_000546:g.13352_13373del IARC TP53 deletion exon 1 TP53_g.13370_13372del NM_000546:g.13370_13372del IARC TP53 deletion exon 1 TP53_g.13382_13390del NM_000546:g.13382_13390del IARC TP53 deletion exon 1 TP53_g.12460_12461ins3 NM_000546:g.12460_12461ins3 IARC TP53 insertion exon 1 TP53_g.11204_11206delinsCA NM_000546:g.11204_11206delinsCA IARC TP53 complex exon 1 TP53_g.30005del NM_000546:g.30005del IARC TP53 deletion intron 1 TP53_g.12402_12403ins8 NM_000546:g.12402_12403ins8 IARC TP53 insertion exon 1 TP53_g.12503del NM_000546:g.12503del IARC TP53 deletion exon 1 TP53_g.14013_14029del NM_000546:g.14013_14029del IARC TP53 deletion exon 1 TP53_g.12465del NM_000546:g.12465del IARC TP53 deletion exon 1 TP53_g.12490_12513del NM_000546:g.12490_12513del IARC TP53 deletion exon 1 TP53_g.13347_13348del NM_000546:g.13347_13348del IARC TP53 deletion exon 1 TP53_g.13790_13791delinsGT NM_000546:g.13790_13791delinsGT IARC TP53 complex exon 1 TP53_g.11059A>T NM_000546:g.11059A>T IARC TP53 substitution exon 1 TP53_g.12665del NM_000546:g.12665del IARC TP53 deletion exon 1 TP53_g.13769T>G NM_000546:g.13769T>G IARC TP53 substitution exon 1 TP53_g.13996G>T NM_000546:g.13996G>T IARC TP53 substitution exon 1 TP53_g.12720_12761del NM_000546:g.12720_12761del IARC TP53 deletion exon 1 TP53_g.11340_11361del NM_000546:g.11340_11361del IARC TP53 deletion exon 1 TP53_g.12396A>T NM_000546:g.12396A>T IARC TP53 substitution exon 1 TP53_g.11404C>A NM_000546:g.11404C>A IARC TP53 substitution exon 1 TP53_g.11578C>T NM_000546:g.11578C>T IARC TP53 substitution exon 1 TP53_g.11614G>A NM_000546:g.11614G>A IARC TP53 substitution intron 1 TP53_g.11621G>A NM_000546:g.11621G>A IARC TP53 substitution intron 1 TP53_g.12467T>C NM_000546:g.12467T>C IARC TP53 substitution exon 1 TP53_g.12725C>G NM_000546:g.12725C>G IARC TP53 substitution exon 1 TP53_g.11583A>G NM_000546:g.11583A>G IARC TP53 substitution exon 1 TP53_g.13875C>G NM_000546:g.13875C>G IARC TP53 substitution exon 1 TP53_g.11457_11501del NM_000546:g.11457_11501del IARC TP53 deletion exon 1 TP53_g.11429G>A NM_000546:g.11429G>A IARC TP53 substitution exon 1 TP53_g.11558C>T NM_000546:g.11558C>T IARC TP53 substitution exon 1 TP53_g.13781G>C NM_000546:g.13781G>C IARC TP53 substitution exon 1 TP53_g.13816_13817delinsTA NM_000546:g.13816_13817delinsTA IARC TP53 complex exon 1 TP53_g.12721_12741del NM_000546:g.12721_12741del IARC TP53 deletion exon 1 TP53_g.11570C>G NM_000546:g.11570C>G IARC TP53 substitution exon 1 TP53_g.13753_13783del NM_000546:g.13753_13783del IARC TP53 deletion intron 1 TP53_g.13345del NM_000546:g.13345del IARC TP53 deletion exon 1 TP53_g.12416T>G NM_000546:g.12416T>G IARC TP53 substitution exon 1 TP53_g.16895del NM_000546:g.16895del IARC TP53 deletion exon 1 TP53_g.14063del NM_000546:g.14063del IARC TP53 deletion exon 1 TP53_g.12470_12472del NM_000546:g.12470_12472del IARC TP53 deletion exon 1 TP53_g.11393del NM_000546:g.11393del IARC TP53 deletion exon 1 TP53_g.13386_13394del NM_000546:g.13386_13394del IARC TP53 deletion exon 1 TP53_g.11346G>C NM_000546:g.11346G>C IARC TP53 substitution exon 1 TP53_g.16934T>C NM_000546:g.16934T>C IARC TP53 substitution exon 1 TP53_g.12626_12638del NM_000546:g.12626_12638del IARC TP53 deletion intron 1 TP53_g.13821_13835del NM_000546:g.13821_13835del IARC TP53 deletion exon 1 TP53_g.12488_12489ins2 NM_000546:g.12488_12489ins2 IARC TP53 insertion exon 1 TP53_g.12495_12496delinsTT NM_000546:g.12495_12496delinsTT IARC TP53 complex exon 1 TP53_g.12484_12493del NM_000546:g.12484_12493del IARC TP53 deletion exon 1 TP53_g.11493G>A NM_000546:g.11493G>A IARC TP53 substitution exon 1 TP53_g.12728A>T NM_000546:g.12728A>T IARC TP53 substitution exon 1 TP53_g.13317_13318del NM_000546:g.13317_13318del IARC TP53 deletion exon 1 TP53_g.13899G>C NM_000546:g.13899G>C IARC TP53 substitution exon 1 TP53_g.11524_11525ins5 NM_000546:g.11524_11525ins5 IARC TP53 insertion exon 1 TP53_g.12430_12470del NM_000546:g.12430_12470del IARC TP53 deletion exon 1 TP53_g.13354del NM_000546:g.13354del IARC TP53 deletion exon 1 TP53_g.12457_12458ins4 NM_000546:g.12457_12458ins4 IARC TP53 insertion exon 1 TP53_g.12398_12419del NM_000546:g.12398_12419del IARC TP53 deletion exon 1 TP53_g.12511_12544del NM_000546:g.12511_12544del IARC TP53 deletion exon 1 TP53_g.13811_13812ins3 NM_000546:g.13811_13812ins3 IARC TP53 insertion exon 1 TP53_g.12442_12443delinsT NM_000546:g.12442_12443delinsT IARC TP53 complex exon 1 TP53_g.13375_13392del NM_000546:g.13375_13392del IARC TP53 deletion exon 1 TP53_g.13869_13894del NM_000546:g.13869_13894del IARC TP53 deletion exon 1 TP53_g.13354_13355del NM_000546:g.13354_13355del IARC TP53 deletion exon 1 TP53_g.13864_13889del NM_000546:g.13864_13889del IARC TP53 deletion exon 1 TP53_g.13797_13833del NM_000546:g.13797_13833del IARC TP53 deletion exon 1 TP53_g.16903T>C NM_000546:g.16903T>C IARC TP53 substitution exon 1 TP53_g.13780G>T NM_000546:g.13780G>T IARC TP53 substitution exon 1 TP53_g.11211A>G NM_000546:g.11211A>G IARC TP53 substitution exon 1 TP53_g.17915T>C NM_000546:g.17915T>C IARC TP53 substitution exon 1 TP53_g.11054G>A NM_000546:g.11054G>A IARC TP53 substitution exon 1 TP53_g.12490_12510del NM_000546:g.12490_12510del IARC TP53 deletion exon 1 TP53_g.13310_13330del NM_000546:g.13310_13330del IARC TP53 deletion exon 1 TP53_g.11451_11510del NM_000546:g.11451_11510del IARC TP53 deletion exon 1 TP53_g.12376_12390del NM_000546:g.12376_12390del IARC TP53 deletion exon 1 TP53_g.11429_11430ins1 NM_000546:g.11429_11430ins1 IARC TP53 insertion exon 1 TP53_g.13856del NM_000546:g.13856del IARC TP53 deletion exon 1 TP53_g.11567_11569del NM_000546:g.11567_11569del IARC TP53 deletion exon 1 TP53_g.11556T>G NM_000546:g.11556T>G IARC TP53 substitution exon 1 TP53_g.11577_11589del NM_000546:g.11577_11589del IARC TP53 deletion exon 1 TP53_g.12385_12403del NM_000546:g.12385_12403del IARC TP53 deletion exon 1 TP53_g.12333T>C NM_000546:g.12333T>C IARC TP53 substitution intron 1 TP53_g.12669T>G NM_000546:g.12669T>G IARC TP53 substitution exon 1 TP53_g.13998C>A NM_000546:g.13998C>A IARC TP53 substitution exon 1 TP53_g.13366G>T NM_000546:g.13366G>T IARC TP53 substitution exon 1 TP53_g.12721del NM_000546:g.12721del IARC TP53 deletion exon 1 TP53_g.13785_13821del NM_000546:g.13785_13821del IARC TP53 deletion exon 1 TP53_g.11538_11556del NM_000546:g.11538_11556del IARC TP53 deletion exon 1 TP53_g.11550_11551del NM_000546:g.11550_11551del IARC TP53 deletion exon 1 TP53_g.13369_13370ins3 NM_000546:g.13369_13370ins3 IARC TP53 insertion exon 1 TP53_g.14027del NM_000546:g.14027del IARC TP53 deletion exon 1 TP53_g.16884_16885ins14 NM_000546:g.16884_16885ins14 IARC TP53 insertion exon 1 TP53_g.16908_16909ins2 NM_000546:g.16908_16909ins2 IARC TP53 insertion exon 1 TP53_g.12363_12364ins18 NM_000546:g.12363_12364ins18 IARC TP53 insertion exon 1 TP53_g.13837_13843del NM_000546:g.13837_13843del IARC TP53 deletion exon 1 TP53_g.17986_17989del NM_000546:g.17986_17989del IARC TP53 deletion exon 1 TP53_g.12718G>A NM_000546:g.12718G>A IARC TP53 substitution exon 1 TP53_g.12630T>G NM_000546:g.12630T>G IARC TP53 substitution exon 1 TP53_g.13803_13804delinsCA NM_000546:g.13803_13804delinsCA IARC TP53 complex exon 1 TP53_g.12697A>T NM_000546:g.12697A>T IARC TP53 substitution exon 1 TP53_g.13990A>C NM_000546:g.13990A>C IARC TP53 substitution intron 1 TP53_g.13371del NM_000546:g.13371del IARC TP53 deletion exon 1 TP53_g.14052_14053ins2 NM_000546:g.14052_14053ins2 IARC TP53 insertion exon 1 TP53_g.11352G>A NM_000546:g.11352G>A IARC TP53 substitution exon 1 TP53_g.14042G>C NM_000546:g.14042G>C IARC TP53 substitution exon 1 TP53_g.17985_17986ins1 NM_000546:g.17985_17986ins1 IARC TP53 insertion exon 1 TP53_g.12433T>G NM_000546:g.12433T>G IARC TP53 substitution exon 1 TP53_g.13407_13409del NM_000546:g.13407_13409del IARC TP53 deletion exon 1 TP53_g.13819_13821del NM_000546:g.13819_13821del IARC TP53 deletion exon 1 TP53_g.12400G>T NM_000546:g.12400G>T IARC TP53 substitution exon 1 TP53_g.11572_11573ins4 NM_000546:g.11572_11573ins4 IARC TP53 insertion exon 1 TP53_g.11480G>C NM_000546:g.11480G>C IARC TP53 substitution exon 1 TP53_g.11480del NM_000546:g.11480del IARC TP53 deletion exon 1 TP53_g.12671_12672ins1 NM_000546:g.12671_12672ins1 IARC TP53 insertion exon 1 TP53_g.13805del NM_000546:g.13805del IARC TP53 deletion exon 1 TP53_g.11587C>G NM_000546:g.11587C>G IARC TP53 substitution exon 1 TP53_g.13990A>T NM_000546:g.13990A>T IARC TP53 substitution intron 1 TP53_g.11360del NM_000546:g.11360del IARC TP53 deletion exon 1 TP53_g.16884G>T NM_000546:g.16884G>T IARC TP53 substitution intron 1 TP53_g.11444_11445del NM_000546:g.11444_11445del IARC TP53 deletion exon 1 TP53_g.12727_12728ins2 NM_000546:g.12727_12728ins2 IARC TP53 insertion exon 1 TP53_g.13999del NM_000546:g.13999del IARC TP53 deletion exon 1 TP53_g.13796_13797ins2 NM_000546:g.13796_13797ins2 IARC TP53 insertion exon 1 TP53_g.12666del NM_000546:g.12666del IARC TP53 deletion exon 1 TP53_g.13848C>A NM_000546:g.13848C>A IARC TP53 substitution exon 1 TP53_g.12381C>A NM_000546:g.12381C>A IARC TP53 substitution exon 1 TP53_g.12374_12380del NM_000546:g.12374_12380del IARC TP53 deletion exon 1 TP53_g.12439_12441del NM_000546:g.12439_12441del IARC TP53 deletion exon 1 TP53_g.16966C>T NM_000546:g.16966C>T IARC TP53 substitution exon 1 TP53_g.13841_13842ins1 NM_000546:g.13841_13842ins1 IARC TP53 insertion exon 1 TP53_g.14024C>G NM_000546:g.14024C>G IARC TP53 substitution exon 1 TP53_g.14051T>G NM_000546:g.14051T>G IARC TP53 substitution exon 1 TP53_g.14006A>G NM_000546:g.14006A>G IARC TP53 substitution exon 1 TP53_g.16905_16906ins1 NM_000546:g.16905_16906ins1 IARC TP53 insertion exon 1 TP53_g.11553G>T NM_000546:g.11553G>T IARC TP53 substitution exon 1 TP53_g.12373_12384del NM_000546:g.12373_12384del IARC TP53 deletion exon 1 TP53_g.11409C>A NM_000546:g.11409C>A IARC TP53 substitution exon 1 TP53_g.11387_11388ins7 NM_000546:g.11387_11388ins7 IARC TP53 insertion exon 1 TP53_g.16964A>T NM_000546:g.16964A>T IARC TP53 substitution exon 1 TP53_g.16927G>T NM_000546:g.16927G>T IARC TP53 substitution exon 1 TP53_g.13775_13776delinsAA NM_000546:g.13775_13776delinsAA IARC TP53 complex exon 1 TP53_g.12662_12663delinsGG NM_000546:g.12662_12663delinsGG IARC TP53 complex exon 1 TP53_g.12675T>A NM_000546:g.12675T>A IARC TP53 substitution exon 1 TP53_g.14046G>T NM_000546:g.14046G>T IARC TP53 substitution exon 1 TP53_g.13323G>T NM_000546:g.13323G>T IARC TP53 substitution exon 1 TP53_g.13824_13825delinsGA NM_000546:g.13824_13825delinsGA IARC TP53 complex exon 1 TP53_g.11365T>C NM_000546:g.11365T>C IARC TP53 substitution exon 1 TP53_g.11588C>A NM_000546:g.11588C>A IARC TP53 substitution exon 1 TP53_g.11404C>T NM_000546:g.11404C>T IARC TP53 substitution exon 1 TP53_g.11458C>T NM_000546:g.11458C>T IARC TP53 substitution exon 1 TP53_g.11452C>T NM_000546:g.11452C>T IARC TP53 substitution exon 1 TP53_g.12486_12496del NM_000546:g.12486_12496del IARC TP53 deletion exon 1 TP53_g.13843_13863del NM_000546:g.13843_13863del IARC TP53 deletion exon 1 TP53_g.12489_12490ins2 NM_000546:g.12489_12490ins2 IARC TP53 insertion exon 1 TP53_g.11445_11446del NM_000546:g.11445_11446del IARC TP53 deletion exon 1 TP53_g.14033A>T NM_000546:g.14033A>T IARC TP53 substitution exon 1 TP53_g.11338C>A NM_000546:g.11338C>A IARC TP53 substitution exon 1 TP53_g.13314_13337del NM_000546:g.13314_13337del IARC TP53 deletion exon 1 TP53_g.11215_11216ins1 NM_000546:g.11215_11216ins1 IARC TP53 insertion exon 1 TP53_g.13895_13896delinsTA NM_000546:g.13895_13896delinsTA IARC TP53 complex exon 1 TP53_g.13889C>T NM_000546:g.13889C>T IARC TP53 substitution exon 1 TP53_g.12663A>G NM_000546:g.12663A>G IARC TP53 substitution exon 1 TP53_g.12708A>T NM_000546:g.12708A>T IARC TP53 substitution exon 1 TP53_g.13993_13994del NM_000546:g.13993_13994del IARC TP53 deletion exon 1 TP53_g.12456_12457del NM_000546:g.12456_12457del IARC TP53 deletion exon 1 TP53_g.12635_12650del NM_000546:g.12635_12650del IARC TP53 deletion exon 1 TP53_g.13409_13419del NM_000546:g.13409_13419del IARC TP53 deletion exon 1 TP53_g.13763_13771del NM_000546:g.13763_13771del IARC TP53 deletion exon 1 TP53_g.14036del NM_000546:g.14036del IARC TP53 deletion exon 1 TP53_g.13316_13333del NM_000546:g.13316_13333del IARC TP53 deletion exon 1 TP53_g.14024C>T NM_000546:g.14024C>T IARC TP53 substitution exon 1 TP53_g.13894A>C NM_000546:g.13894A>C IARC TP53 substitution exon 1 TP53_g.13361_13376del NM_000546:g.13361_13376del IARC TP53 deletion exon 1 TP53_g.12510_12527del NM_000546:g.12510_12527del IARC TP53 deletion exon 1 TP53_g.11028_11029ins1 NM_000546:g.11028_11029ins1 IARC TP53 insertion exon 1 TP53_g.11418G>C NM_000546:g.11418G>C IARC TP53 substitution exon 1 TP53_g.11455C>A NM_000546:g.11455C>A IARC TP53 substitution exon 1 TP53_g.17937_17938ins1 NM_000546:g.17937_17938ins1 IARC TP53 insertion exon 1 TP53_g.11461C>A NM_000546:g.11461C>A IARC TP53 substitution exon 1 TP53_g.12707_12708ins1 NM_000546:g.12707_12708ins1 IARC TP53 insertion exon 1 TP53_g.17986G>A NM_000546:g.17986G>A IARC TP53 substitution exon 1 TP53_g.13890_13892del NM_000546:g.13890_13892del IARC TP53 deletion exon 1 TP53_g.13339_13340ins4 NM_000546:g.13339_13340ins4 IARC TP53 insertion exon 1 TP53_g.11324A>G NM_000546:g.11324A>G IARC TP53 substitution intron 1 TP53_g.13985T>A NM_000546:g.13985T>A IARC TP53 substitution intron 1 TP53_g.12659T>C NM_000546:g.12659T>C IARC TP53 substitution exon 1 TP53_g.12426G>T NM_000546:g.12426G>T IARC TP53 substitution exon 1 TP53_g.11604del NM_000546:g.11604del IARC TP53 deletion exon 1 TP53_g.11417del NM_000546:g.11417del IARC TP53 deletion exon 1 TP53_g.13771_13773del NM_000546:g.13771_13773del IARC TP53 deletion exon 1 TP53_g.11544_11606del NM_000546:g.11544_11606del IARC TP53 deletion exon 1 TP53_g.13357_13371del NM_000546:g.13357_13371del IARC TP53 deletion exon 1 TP53_g.12689A>C NM_000546:g.12689A>C IARC TP53 substitution exon 1 TP53_g.12448_12456del NM_000546:g.12448_12456del IARC TP53 deletion exon 1 TP53_g.16971_16972ins1 NM_000546:g.16971_16972ins1 IARC TP53 insertion exon 1 TP53_g.12637_12638delinsAA NM_000546:g.12637_12638delinsAA IARC TP53 complex exon 1 TP53_g.12487C>G NM_000546:g.12487C>G IARC TP53 substitution exon 1 TP53_g.11592T>A NM_000546:g.11592T>A IARC TP53 substitution exon 1 TP53_g.11451G>C NM_000546:g.11451G>C IARC TP53 substitution exon 1 TP53_g.11599_11606del NM_000546:g.11599_11606del IARC TP53 deletion exon 1 TP53_g.16930G>C NM_000546:g.16930G>C IARC TP53 substitution exon 1 TP53_g.13886_13887ins8 NM_000546:g.13886_13887ins8 IARC TP53 insertion exon 1 TP53_g.16945G>T NM_000546:g.16945G>T IARC TP53 substitution exon 1 TP53_g.14052A>G NM_000546:g.14052A>G IARC TP53 substitution exon 1 TP53_g.11409C>G NM_000546:g.11409C>G IARC TP53 substitution exon 1 TP53_g.12496_12502del NM_000546:g.12496_12502del IARC TP53 deletion exon 1 TP53_g.11410C>G NM_000546:g.11410C>G IARC TP53 substitution exon 1 TP53_g.12668_12669del NM_000546:g.12668_12669del IARC TP53 deletion exon 1 TP53_g.11545G>C NM_000546:g.11545G>C IARC TP53 substitution exon 1 TP53_g.11206A>G NM_000546:g.11206A>G IARC TP53 substitution exon 1 TP53_g.14007del NM_000546:g.14007del IARC TP53 deletion exon 1 TP53_g.11521_11525del NM_000546:g.11521_11525del IARC TP53 deletion exon 1 TP53_g.13992C>T NM_000546:g.13992C>T IARC TP53 substitution exon 1 TP53_g.12405_12406del NM_000546:g.12405_12406del IARC TP53 deletion exon 1 TP53_g.14044del NM_000546:g.14044del IARC TP53 deletion exon 1 TP53_g.14062del NM_000546:g.14062del IARC TP53 deletion exon 1 TP53_g.14063C>G NM_000546:g.14063C>G IARC TP53 substitution exon 1 TP53_g.14063_14254del NM_000546:g.14063_14254del IARC TP53 deletion exon 1 TP53_g.11480_11801del NM_000546:g.11480_11801del IARC TP53 deletion exon 1 TP53_g.13832_13838del NM_000546:g.13832_13838del IARC TP53 deletion exon 1 TP53_g.16944G>T NM_000546:g.16944G>T IARC TP53 substitution exon 1 TP53_g.12471_12473del NM_000546:g.12471_12473del IARC TP53 deletion exon 1 TP53_g.13379_13390del NM_000546:g.13379_13390del IARC TP53 deletion exon 1 TP53_g.11606_11616del NM_000546:g.11606_11616del IARC TP53 deletion exon 1 TP53_g.12671del NM_000546:g.12671del IARC TP53 deletion exon 1 TP53_g.11202del NM_000546:g.11202del IARC TP53 deletion exon 1 TP53_g.11397del NM_000546:g.11397del IARC TP53 deletion exon 1 TP53_g.11522_11526del NM_000546:g.11522_11526del IARC TP53 deletion exon 1 TP53_g.12407del NM_000546:g.12407del IARC TP53 deletion exon 1 TP53_g.12452_12469del NM_000546:g.12452_12469del IARC TP53 deletion exon 1 TP53_g.12522_12526del NM_000546:g.12522_12526del IARC TP53 deletion exon 1 TP53_g.12662_12670del NM_000546:g.12662_12670del IARC TP53 deletion exon 1 TP53_g.13350_13361del NM_000546:g.13350_13361del IARC TP53 deletion exon 1 TP53_g.14055_14056ins1 NM_000546:g.14055_14056ins1 IARC TP53 insertion exon 1 TP53_g.16909A>G NM_000546:g.16909A>G IARC TP53 substitution exon 1 TP53_g.16905_16908del NM_000546:g.16905_16908del IARC TP53 deletion exon 1 TP53_g.16909_16911del NM_000546:g.16909_16911del IARC TP53 deletion exon 1 TP53_g.13780_13781delinsCT NM_000546:g.13780_13781delinsCT IARC TP53 complex exon 1 TP53_g.11011G>A NM_000546:g.11011G>A IARC TP53 substitution exon 1 TP53_g.11339G>A NM_000546:g.11339G>A IARC TP53 substitution exon 1 TP53_g.11352_11355del NM_000546:g.11352_11355del IARC TP53 deletion exon 1 TP53_g.11552del NM_000546:g.11552del IARC TP53 deletion exon 1 TP53_g.13763del NM_000546:g.13763del IARC TP53 deletion exon 1 TP53_g.13790_13791delinsA NM_000546:g.13790_13791delinsA IARC TP53 complex exon 1 TP53_g.16889_16890del NM_000546:g.16889_16890del IARC TP53 deletion exon 1 TP53_g.13868_13869ins5 NM_000546:g.13868_13869ins5 IARC TP53 insertion exon 1 TP53_g.13771_13772del NM_000546:g.13771_13772del IARC TP53 deletion exon 1 TP53_g.12650_12669del NM_000546:g.12650_12669del IARC TP53 deletion exon 1 TP53_g.12438_12439del NM_000546:g.12438_12439del IARC TP53 deletion exon 1 TP53_g.11524_11554del NM_000546:g.11524_11554del IARC TP53 deletion exon 1 TP53_g.13849_13850ins1 NM_000546:g.13849_13850ins1 IARC TP53 insertion exon 1 TP53_g.11544_11552del NM_000546:g.11544_11552del IARC TP53 deletion exon 1 TP53_g.11551_11552ins7 NM_000546:g.11551_11552ins7 IARC TP53 insertion exon 1 TP53_g.11605_11624del NM_000546:g.11605_11624del IARC TP53 deletion exon 1 TP53_g.13863_13875del NM_000546:g.13863_13875del IARC TP53 deletion exon 1 TP53_g.12374_12376del NM_000546:g.12374_12376del IARC TP53 deletion exon 1 TP53_g.11366_11367ins2 NM_000546:g.11366_11367ins2 IARC TP53 insertion exon 1 TP53_g.11506_11622del NM_000546:g.11506_11622del IARC TP53 deletion exon 1 TP53_g.11408_11471del NM_000546:g.11408_11471del IARC TP53 deletion exon 1 TP53_g.17909G>A NM_000546:g.17909G>A IARC TP53 substitution intron 1 TP53_g.11548_11557del NM_000546:g.11548_11557del IARC TP53 deletion exon 1 TP53_g.11370del NM_000546:g.11370del IARC TP53 deletion exon 1 TP53_g.13998C>T NM_000546:g.13998C>T IARC TP53 substitution exon 1 TP53_g.11491C>T NM_000546:g.11491C>T IARC TP53 substitution exon 1 TP53_g.12423del NM_000546:g.12423del IARC TP53 deletion exon 1 TP53_g.12685T>C NM_000546:g.12685T>C IARC TP53 substitution exon 1 TP53_g.11395C>T NM_000546:g.11395C>T IARC TP53 substitution exon 1 TP53_g.14048G>A NM_000546:g.14048G>A IARC TP53 substitution exon 1 TP53_g.11553_11564delinsATTCAG NM_000546:g.11553_11564delinsATTCAG IARC TP53 complex exon 1 TP53_g.12614_12624del NM_000546:g.12614_12624del IARC TP53 deletion intron 1 TP53_g.14916_17271del NM_000546:g.14916_17271del IARC TP53 deletion intron 1 TP53_g.12714del NM_000546:g.12714del IARC TP53 deletion exon 1 TP53_g.12640_12641del NM_000546:g.12640_12641del IARC TP53 deletion exon 1 TP53_g.12711_12712ins6 NM_000546:g.12711_12712ins6 IARC TP53 insertion exon 1 TP53_g.13390C>G NM_000546:g.13390C>G IARC TP53 substitution exon 1 TP53_g.13271G>A NM_000546:g.13271G>A IARC TP53 substitution intron 1 TP53_g.12362_12363ins1 NM_000546:g.12362_12363ins1 IARC TP53 insertion intron 1 TP53_g.12806_12807ins2 NM_000546:g.12806_12807ins2 IARC TP53 insertion intron 1 TP53_g.11081_11247del NM_000546:g.11081_11247del IARC TP53 deletion intron 1 TP53_g.11502del NM_000546:g.11502del IARC TP53 deletion exon 1 TP53_g.13824_13831del NM_000546:g.13824_13831del IARC TP53 deletion exon 1 TP53_g.14066del NM_000546:g.14066del IARC TP53 deletion intron 1 TP53_g.12469_12470ins7 NM_000546:g.12469_12470ins7 IARC TP53 insertion exon 1 TP53_g.12687_12693del NM_000546:g.12687_12693del IARC TP53 deletion exon 1 TP53_g.12618_12628del NM_000546:g.12618_12628del IARC TP53 deletion intron 1 TP53_g.13878_13879ins4 NM_000546:g.13878_13879ins4 IARC TP53 insertion exon 1 TP53_g.14023G>C NM_000546:g.14023G>C IARC TP53 substitution exon 1 TP53_g.14033A>G NM_000546:g.14033A>G IARC TP53 substitution exon 1 TP53_g.11317C>G NM_000546:g.11317C>G IARC TP53 substitution intron 1 TP53_g.16967C>T NM_000546:g.16967C>T IARC TP53 substitution exon 1 TP53_g.17750G>A NM_000546:g.17750G>A IARC TP53 substitution intron 1 TP53_g.17401G>A NM_000546:g.17401G>A IARC TP53 substitution intron 1 TP53_g.16897_16898ins6 NM_000546:g.16897_16898ins6 IARC TP53 insertion exon 1 TP53_g.11517_11519del NM_000546:g.11517_11519del IARC TP53 deletion exon 1 TP53_g.16929_16931del NM_000546:g.16929_16931del IARC TP53 deletion exon 1 TP53_g.12483_12484ins3 NM_000546:g.12483_12484ins3 IARC TP53 insertion exon 1 TP53_g.17940del NM_000546:g.17940del IARC TP53 deletion exon 1 TP53_g.12705del NM_000546:g.12705del IARC TP53 deletion exon 1 TP53_g.11381T>A NM_000546:g.11381T>A IARC TP53 substitution exon 1 TP53_g.12712_12729del NM_000546:g.12712_12729del IARC TP53 deletion exon 1 TP53_g.11068C>T NM_000546:g.11068C>T IARC TP53 substitution exon 1 TP53_g.12497_12500del NM_000546:g.12497_12500del IARC TP53 deletion exon 1 TP53_g.13798_13807del NM_000546:g.13798_13807del IARC TP53 deletion exon 1 TP53_g.11559_11560ins7 NM_000546:g.11559_11560ins7 IARC TP53 insertion exon 1 TP53_g.12470_12475del NM_000546:g.12470_12475del IARC TP53 deletion exon 1 TP53_g.7830A>T NM_000546:g.7830A>T IARC TP53 substitution intron 1 TP53_g.17908A>G NM_000546:g.17908A>G IARC TP53 substitution intron 1 IPNMDB_397 NM_015046(ALS4):c.8C>T IPNMDB substitution exon 1 IPNMDB_398 NM_015046(ALS4):c.1166T>C IPNMDB substitution exon 1 IPNMDB_399 NM_015046(ALS4):c.6407G>A IPNMDB substitution exon 1 IPNMDB_951 NM_001127713.1(ATL1):c.196G>C IPNMDB substitution exon 1 IPNMDB_952 NM_001127713.1(ATL1):c.976delG IPNMDB deletion exon 1 IPNMDB_950 NM_001127713.1(ATL1):c.1065C>A IPNMDB substitution exon 1 IPNMDB_380 NM_032667(BSCL2):c.263A>G IPNMDB substitution exon 1 IPNMDB_381 NM_032667(BSCL2):c.269C>T IPNMDB substitution exon 1 IPNMDB_954 NM_012073.3(CCT5):c.440A>G IPNMDB substitution exon 1 IPNMDB_360 NM_004715(CTDP1):c.863+389C>T IPNMDB substitution intron 1 IPNMDB_643 NM_004082(DCTN1):c.175G>A IPNMDB substitution exon 1 IPNMDB_885 NM_004945(DNM2):c.1102G>C IPNMDB substitution exon 1 IPNMDB_886 NM_004945(DNM2):c.1597G>T IPNMDB substitution exon 1 IPNMDB_729 NM_004945(DNM2):c.1652_1659+1delATGAGGAGg IPNMDB deletion not within known transcription unit 1 IPNMDB_730 NM_004945(DNM2):c.1672_1674delAAG IPNMDB deletion exon 1 IPNMDB_731 NM_004945(DNM2):c.1672A>G IPNMDB substitution exon 1 IPNMDB_887 NM_004945(DNM2):c.1697T>A IPNMDB substitution exon 1 IPNMDB_281 AF139463(EGR2):c.803T>A IPNMDB substitution exon 1 IPNMDB_334 AF139463(EGR2):c.1064A>T IPNMDB substitution exon 1 IPNMDB_282 AF139463(EGR2):c.1075C>T IPNMDB substitution exon 1 IPNMDB_815 AF139463(EGR2):c.1076G>A IPNMDB substitution exon 1 IPNMDB_286 AF139463(EGR2):c.1086A>C IPNMDB substitution exon 1 IPNMDB_487 AF139463(EGR2):c.1141C>T IPNMDB substitution exon 1 IPNMDB_335 AF139463(EGR2):c.1142G>A IPNMDB substitution exon 1 IPNMDB_283 AF139463(EGR2):c.[1146T>G;1147G>T] IPNMDB substitution exon 1 IPNMDB_36 AF139463(EGR2):c.1147G>T IPNMDB substitution exon 1 IPNMDB_284 AF139463(EGR2):c.1225C>T IPNMDB substitution exon 1 IPNMDB_923 AF139463(EGR2):c.1234G>A IPNMDB substitution exon 1 IPNMDB_379 AF139463(EGR2):c.1352G>T IPNMDB substitution exon 1 IPNMDB_949 NM_019000.3(FAM134B):c.873+2T>C IPNMDB substitution intron 1 IPNMDB_926 NM_139241.1(FGD4):c.670C>T IPNMDB substitution exon 1 IPNMDB_930 NM_139241.1(FGD4):c.893T>C IPNMDB substitution exon 1 IPNMDB_927 NM_139241.1(FGD4):c.893T>G IPNMDB substitution exon 1 IPNMDB_928 NM_139241.1(FGD4):c.1628_1629delAG IPNMDB deletion exon 1 IPNMDB_929 NM_139241.1(FGD4):c.1756G>T IPNMDB substitution exon 1 IPNMDB_932 NM_014845.4(FIG4):c.[122T>C]+[294delT] IPNMDB complex exon 1 IPNMDB_934 NM_014845.4(FIG4):c.[122T>C]+[759delG] IPNMDB complex exon 1 IPNMDB_935 NM_014845.4(FIG4):c.[122T>C]+[1043_1050delATCAGGCA] IPNMDB complex exon 1 IPNMDB_474 NM_022041(GAN):c.18_19insA IPNMDB insertion exon 1 IPNMDB_679 NM_022041(GAN):c.[20_57del38]+[896A>C] IPNMDB complex exon 1 IPNMDB_472 NM_022041(GAN):c.43C>A IPNMDB substitution exon 1 IPNMDB_678 NM_022041(GAN):c.[145G>A]+[944C>T] IPNMDB substitution exon 1 IPNMDB_909 NM_022041(GAN):c.151G>C IPNMDB substitution exon 1 IPNMDB_480 NM_022041(GAN):c.[154A>G]+[1179T>A] IPNMDB substitution exon 1 IPNMDB_903 NM_022041(GAN):c.168-1G>A IPNMDB substitution not within known transcription unit 1 IPNMDB_911 NM_022041(GAN):c.213T>A IPNMDB substitution exon 1 IPNMDB_481 NM_022041(GAN):c.[236C>T]+[?] IPNMDB substitution exon 0 IPNMDB_476 NM_022041(GAN):c.[244G>T]+[?] IPNMDB substitution exon 0 IPNMDB_652 NM_022041(GAN):c.[256A>T]+[340_357delCTGACGGACCTTAAAACC] IPNMDB complex exon 1 IPNMDB_902 NM_022041(GAN):c.[266A>G]+[1102G>A] IPNMDB substitution exon 1 IPNMDB_482 NM_022041(GAN):c.413G>A IPNMDB substitution exon 1 IPNMDB_906 NM_022041(GAN):c.[583G>T]+[633+1G>T] IPNMDB substitution not within known transcription unit 1 IPNMDB_569 NM_022041(GAN):c.[601C>T]+[1268T>C] IPNMDB substitution exon 1 IPNMDB_649 NM_022041(GAN):c.724C>T IPNMDB substitution exon 1 IPNMDB_483 NM_022041(GAN):c.806G>A IPNMDB substitution exon 1 IPNMDB_836 NM_022041(GAN):c.877C>T IPNMDB substitution exon 1 IPNMDB_479 NM_022041(GAN):c.[877C>T]+[1709G>A] IPNMDB substitution exon 1 IPNMDB_908 NM_022041(GAN):c.[944C>T]+[1553_1554delTT] IPNMDB complex exon 1 IPNMDB_677 NM_022041(GAN):c.[1086+1G>C]+[1529T>G] IPNMDB substitution not within known transcription unit 1 IPNMDB_484 NM_022041(GAN):c.1086+71C>T IPNMDB substitution intron 1 IPNMDB_648 NM_022041(GAN):c.1102G>A IPNMDB substitution exon 1 IPNMDB_477 NM_022041(GAN):c.[1203G>A]+[1456G>A] IPNMDB substitution exon 1 IPNMDB_485 NM_022041(GAN):c.1293T>C IPNMDB substitution exon 1 IPNMDB_904 NM_022041(GAN):c.[1420G>C]+[1429C>T] IPNMDB substitution exon 1 IPNMDB_650 NM_022041(GAN):c.1429C>T IPNMDB substitution exon 1 IPNMDB_475 NM_022041(GAN):c.1447C>T IPNMDB substitution exon 1 IPNMDB_473 NM_022041(GAN):c.1456G>A IPNMDB substitution exon 1 IPNMDB_837 NM_022041(GAN):c.1502+1G>T IPNMDB substitution intron 1 IPNMDB_910 NM_022041(GAN):c.1505G>A IPNMDB substitution exon 1 IPNMDB_478 NM_022041(GAN):c.1633C>T IPNMDB substitution exon 1 IPNMDB_905 NM_022041(GAN):c.1634G>A IPNMDB substitution exon 1 IPNMDB_676 NM_022041(GAN):c.1684C>G IPNMDB substitution exon 1 IPNMDB_920 NM_002047.1(GARS):c.170C>T IPNMDB substitution exon 1 IPNMDB_655 NM_002047.1(GARS):c.212A>G IPNMDB substitution exon 1 IPNMDB_656 NM_002047.1(GARS):c.385C>T IPNMDB substitution exon 1 IPNMDB_657 NM_002047.1(GARS):c.718G>C IPNMDB substitution exon 1 IPNMDB_829 NM_002047.1(GARS):c.838A>T IPNMDB substitution exon 1 IPNMDB_825 NM_002047.1(GARS):c.1253A>G IPNMDB substitution exon 1 IPNMDB_826 NM_002047.1(GARS):c.1498G>A IPNMDB substitution exon 1 IPNMDB_658 NM_002047.1(GARS):c.1576G>C IPNMDB substitution exon 1 IPNMDB_828 NM_002047.1(GARS):c.1742C>T IPNMDB substitution exon 1 IPNMDB_564 NM_018972(GDAP1):c.92G>A IPNMDB substitution exon 1 IPNMDB_752 NM_018972(GDAP1):c.[311-1G>A]+[389C>G] IPNMDB substitution not within known transcription unit 1 IPNMDB_671 NM_018972(GDAP1):c.[341_344delAAAG]+[487C>T] IPNMDB complex exon 1 IPNMDB_367 NM_018972(GDAP1):c.[341_344delAAAG]+[715C>T] IPNMDB complex exon 1 IPNMDB_812 NM_018972(GDAP1):c.347T>C IPNMDB substitution exon 1 IPNMDB_732 NM_018972(GDAP1):c.347T>G IPNMDB substitution exon 1 IPNMDB_611 NM_018972(GDAP1):c.349_350insT IPNMDB insertion exon 1 IPNMDB_672 NM_018972(GDAP1):c.358C>T IPNMDB substitution exon 1 IPNMDB_368 NM_018972(GDAP1):c.[358C>T]+[811G>A] IPNMDB substitution exon 1 IPNMDB_642 NM_018972(GDAP1):c.359G>A IPNMDB substitution exon 1 IPNMDB_874 NM_018972(GDAP1):c.439delA IPNMDB deletion exon 1 IPNMDB_734 NM_018972(GDAP1):c.445G>T IPNMDB substitution exon 1 IPNMDB_900 NM_018972(GDAP1):c.458C>T IPNMDB substitution exon 1 IPNMDB_673 NM_018972(GDAP1):c.469A>C IPNMDB substitution exon 1 IPNMDB_566 NM_018972(GDAP1):c.482G>A IPNMDB substitution exon 1 IPNMDB_366 NM_018972(GDAP1):c.485-2A>G IPNMDB substitution intron 1 IPNMDB_561 NM_018972(GDAP1):c.487C>T IPNMDB substitution exon 1 IPNMDB_562 NM_018972(GDAP1):c.[487C>T]+[581C>G] IPNMDB substitution exon 1 IPNMDB_612 NM_018972(GDAP1):c.507T>G IPNMDB substitution exon 1 IPNMDB_875 NM_018972(GDAP1):c.[571C>T]+[715C>T] IPNMDB substitution exon 1 IPNMDB_613 NM_018972(GDAP1):c.579+1G>A IPNMDB substitution intron 1 IPNMDB_674 NM_018972(GDAP1):c.558delT IPNMDB deletion exon 1 IPNMDB_565 NM_018972(GDAP1):c.581C>G IPNMDB substitution exon 1 IPNMDB_361 NM_018972(GDAP1):c.[581C>G]+[929G>A] IPNMDB substitution exon 1 IPNMDB_365 NM_018972(GDAP1):c.668T>A IPNMDB substitution exon 1 IPNMDB_813 NM_018972(GDAP1):c.715C>T IPNMDB substitution exon 1 IPNMDB_609 NM_018972(GDAP1):c.786delG IPNMDB deletion exon 1 IPNMDB_610 NM_018972(GDAP1):c.844C>T IPNMDB substitution exon 1 IPNMDB_104 NM_000166(GJB1):c.7T>C IPNMDB substitution exon 1 IPNMDB_288 NM_000166(GJB1):c.8G>A IPNMDB substitution exon 1 IPNMDB_105 NM_000166(GJB1):c.8G>C IPNMDB substitution exon 1 IPNMDB_466 NM_000166(GJB1):c.9G>A IPNMDB substitution exon 1 IPNMDB_616 NM_000166(GJB1):c.20_22delACA IPNMDB deletion exon 1 IPNMDB_106 NM_000166(GJB1):c.20A>G IPNMDB substitution exon 1 IPNMDB_107 NM_000166(GJB1):c.22A>C IPNMDB substitution exon 1 IPNMDB_289 NM_000166(GJB1):c.26T>G IPNMDB substitution exon 1 IPNMDB_681 NM_000166(GJB1):c.27G>T IPNMDB substitution exon 1 IPNMDB_628 NM_000166(GJB1):c.30C>T IPNMDB substitution exon 1 IPNMDB_108 NM_000166(GJB1):c.31A>G IPNMDB substitution exon 1 IPNMDB_109 NM_000166(GJB1):c.34G>A IPNMDB substitution exon 1 IPNMDB_290 NM_000166(GJB1):c.36C>T IPNMDB substitution exon 1 IPNMDB_111 NM_000166(GJB1):c.37G>A IPNMDB substitution exon 1 IPNMDB_110 NM_000166(GJB1):c.37G>T IPNMDB substitution exon 1 IPNMDB_378 NM_000166(GJB1):c.43delC IPNMDB deletion exon 1 IPNMDB_114 NM_000166(GJB1):c.43C>T IPNMDB substitution exon 1 IPNMDB_113 NM_000166(GJB1):c.44G>A IPNMDB substitution exon 1 IPNMDB_115 NM_000166(GJB1):c.47A>C IPNMDB substitution exon 1 IPNMDB_345 NM_000166(GJB1):c.[59T>A;61G>A] IPNMDB substitution exon 1 IPNMDB_116 NM_000166(GJB1):c.59T>G IPNMDB substitution exon 1 IPNMDB_117 NM_000166(GJB1):c.62G>A IPNMDB substitution exon 1 IPNMDB_119 NM_000166(GJB1):c.64C>G IPNMDB substitution exon 1 IPNMDB_121 NM_000166(GJB1):c.64C>T IPNMDB substitution exon 1 IPNMDB_118 NM_000166(GJB1):c.65G>A IPNMDB substitution exon 1 IPNMDB_122 NM_000166(GJB1):c.[65G>A;187G>A] IPNMDB substitution exon 1 IPNMDB_120 NM_000166(GJB1):c.65G>C IPNMDB substitution exon 1 IPNMDB_349 NM_000166(GJB1):c.68T>A IPNMDB substitution exon 1 IPNMDB_123 NM_000166(GJB1):c.68T>C IPNMDB substitution exon 1 IPNMDB_584 NM_000166(GJB1):c.72G>T IPNMDB substitution exon 1 IPNMDB_124 NM_000166(GJB1):c.73C>T IPNMDB substitution exon 1 IPNMDB_532 NM_000166(GJB1):c.74T>C IPNMDB substitution exon 1 IPNMDB_126 NM_000166(GJB1):c.77C>A IPNMDB substitution exon 1 IPNMDB_491 NM_000166(GJB1):c.77C>G IPNMDB substitution exon 1 IPNMDB_125 NM_000166(GJB1):c.77C>T IPNMDB substitution exon 1 IPNMDB_127 NM_000166(GJB1):c.83T>A IPNMDB substitution exon 1 IPNMDB_128 NM_000166(GJB1):c.83T>C IPNMDB substitution exon 1 IPNMDB_130 NM_000166(GJB1):c.85T>C IPNMDB substitution exon 1 IPNMDB_292 NM_000166(GJB1):c.88A>T IPNMDB substitution exon 1 IPNMDB_131 NM_000166(GJB1):c.89T>A IPNMDB substitution exon 1 IPNMDB_293 NM_000166(GJB1):c.89T>C IPNMDB substitution exon 1 IPNMDB_291 NM_000166(GJB1):c.90C>G IPNMDB substitution exon 1 IPNMDB_129 NM_000166(GJB1):c.94_95insTCTTCA IPNMDB insertion exon 1 IPNMDB_133 NM_000166(GJB1):c.100A>G IPNMDB substitution exon 1 IPNMDB_344 NM_000166(GJB1):c.101T>A IPNMDB substitution exon 1 IPNMDB_132 NM_000166(GJB1):c.101T>C IPNMDB substitution exon 1 IPNMDB_294 NM_000166(GJB1):c.102G>A IPNMDB substitution exon 1 IPNMDB_134 NM_000166(GJB1):c.103G>A IPNMDB substitution exon 1 IPNMDB_135 NM_000166(GJB1):c.109G>A IPNMDB substitution exon 1 IPNMDB_136 NM_000166(GJB1):c.112G>A IPNMDB substitution exon 1 IPNMDB_742 NM_000166(GJB1):c.113T>C IPNMDB substitution exon 1 IPNMDB_738 NM_000166(GJB1):c.114_115insC IPNMDB insertion exon 1 IPNMDB_137 NM_000166(GJB1):c.115G>C IPNMDB substitution exon 1 IPNMDB_925 NM_000166(GJB1):c.115delG IPNMDB deletion exon 1 IPNMDB_138 NM_000166(GJB1):c.116C>T IPNMDB substitution exon 1 IPNMDB_739 NM_000166(GJB1):c.118G>A IPNMDB substitution exon 1 IPNMDB_139 NM_000166(GJB1):c.119C>T IPNMDB substitution exon 1 IPNMDB_140 NM_000166(GJB1):c.121G>A IPNMDB substitution exon 1 IPNMDB_833 NM_000166(GJB1):c.123G>C IPNMDB substitution exon 1 IPNMDB_141 NM_000166(GJB1):c.124delA IPNMDB deletion exon 1 IPNMDB_142 NM_000166(GJB1):c.127G>A IPNMDB substitution exon 1 IPNMDB_295 NM_000166(GJB1):c.131G>A IPNMDB substitution exon 1 IPNMDB_143 NM_000166(GJB1):c.131G>T IPNMDB substitution exon 1 IPNMDB_438 NM_000166(GJB1):c.132G>A IPNMDB substitution exon 1 IPNMDB_917 NM_000166(GJB1):c.137A>G IPNMDB substitution exon 1 IPNMDB_880 NM_000166(GJB1):c.140A>G IPNMDB substitution exon 1 IPNMDB_577 NM_000166(GJB1):c.145T>C IPNMDB substitution exon 1 IPNMDB_144 NM_000166(GJB1):c.146C>A IPNMDB substitution exon 1 IPNMDB_145 NM_000166(GJB1):c.148T>C IPNMDB substitution exon 1 IPNMDB_296 NM_000166(GJB1):c.153C>A IPNMDB substitution exon 1 IPNMDB_146 NM_000166(GJB1):c.158G>C IPNMDB substitution exon 1 IPNMDB_685 NM_000166(GJB1):c.163A>G IPNMDB substitution exon 1 IPNMDB_579 NM_000166(GJB1):c.164C>G IPNMDB substitution exon 1 IPNMDB_147 NM_000166(GJB1):c.164C>T IPNMDB substitution exon 1 IPNMDB_148 NM_000166(GJB1):c.166C>T IPNMDB substitution exon 1 IPNMDB_149 NM_000166(GJB1):c.171G>C IPNMDB substitution exon 1 IPNMDB_150 NM_000166(GJB1):c.173C>G IPNMDB substitution exon 1 IPNMDB_297 NM_000166(GJB1):c.175G>C IPNMDB substitution exon 1 IPNMDB_151 NM_000166(GJB1):c.175G>T IPNMDB substitution exon 1 IPNMDB_299 NM_000166(GJB1):c.178T>A IPNMDB substitution exon 1 IPNMDB_298 NM_000166(GJB1):c.178T>C IPNMDB substitution exon 1 IPNMDB_152 NM_000166(GJB1):c.179G>T IPNMDB substitution exon 1 IPNMDB_572 NM_000166(GJB1):c.184_185insCACTCCAGCCTGGCTGCAACA IPNMDB insertion exon 1 IPNMDB_153 NM_000166(GJB1):c.187G>A IPNMDB substitution exon 1 IPNMDB_154 NM_000166(GJB1):c.191G>C IPNMDB substitution exon 1 IPNMDB_492 NM_000166(GJB1):c.191G>T IPNMDB substitution exon 1 IPNMDB_465 NM_000166(GJB1):c.193T>C IPNMDB substitution exon 1 IPNMDB_155 NM_000166(GJB1):c.194A>G IPNMDB substitution exon 1 IPNMDB_156 NM_000166(GJB1):c.196_198delGAC IPNMDB deletion exon 1 IPNMDB_300 NM_000166(GJB1):c.205T>C IPNMDB substitution exon 1 IPNMDB_301 NM_000166(GJB1):c.208C>G IPNMDB substitution exon 1 IPNMDB_302 NM_000166(GJB1):c.208C>T IPNMDB substitution exon 1 IPNMDB_157 NM_000166(GJB1):c.210_211insC IPNMDB insertion exon 1 IPNMDB_303 NM_000166(GJB1):c.215C>T IPNMDB substitution exon 1 IPNMDB_158 NM_000166(GJB1):c.217delC IPNMDB deletion exon 1 IPNMDB_161 NM_000166(GJB1):c.223C>T IPNMDB substitution exon 1 IPNMDB_159 NM_000166(GJB1):c.224G>A IPNMDB substitution exon 1 IPNMDB_160 NM_000166(GJB1):c.224G>C IPNMDB substitution exon 1 IPNMDB_162 NM_000166(GJB1):c.230G>C IPNMDB substitution exon 1 IPNMDB_304 NM_000166(GJB1):c.230G>T IPNMDB substitution exon 1 IPNMDB_163 NM_000166(GJB1):c.231G>A IPNMDB substitution exon 1 IPNMDB_279 NM_000166(GJB1):c.235C>T IPNMDB substitution exon 1 IPNMDB_165 NM_000166(GJB1):c.238C>T IPNMDB substitution exon 1 IPNMDB_164 NM_000166(GJB1):c.239A>G IPNMDB substitution exon 1 IPNMDB_166 NM_000166(GJB1):c.241C>T IPNMDB substitution exon 1 IPNMDB_305 NM_000166(GJB1):c.242T>A IPNMDB substitution exon 1 IPNMDB_167 NM_000166(GJB1):c.248T>C IPNMDB substitution exon 1 IPNMDB_467 NM_000166(GJB1):c.248T>G IPNMDB substitution exon 1 IPNMDB_168 NM_000166(GJB1):c.250G>A IPNMDB substitution exon 1 IPNMDB_169 NM_000166(GJB1):c.254C>G IPNMDB substitution exon 1 IPNMDB_170 NM_000166(GJB1):c.254C>T IPNMDB substitution exon 1 IPNMDB_171 NM_000166(GJB1):c.256A>G IPNMDB substitution exon 1 IPNMDB_173 NM_000166(GJB1):c.256A>T IPNMDB substitution exon 1 IPNMDB_172 NM_000166(GJB1):c.257C>A IPNMDB substitution exon 1 IPNMDB_174 NM_000166(GJB1):c.259C>G IPNMDB substitution exon 1 IPNMDB_176 NM_000166(GJB1):c.259C>T IPNMDB substitution exon 1 IPNMDB_175 NM_000166(GJB1):c.260C>T IPNMDB substitution exon 1 IPNMDB_306 NM_000166(GJB1):c.265C>G IPNMDB substitution exon 1 IPNMDB_177 NM_000166(GJB1):c.266T>C IPNMDB substitution exon 1 IPNMDB_346 NM_000166(GJB1):c.268C>G IPNMDB substitution exon 1 IPNMDB_178 NM_000166(GJB1):c.269T>A IPNMDB substitution exon 1 IPNMDB_308 NM_000166(GJB1):c.271G>A IPNMDB substitution exon 1 IPNMDB_307 NM_000166(GJB1):c.272T>C IPNMDB substitution exon 1 IPNMDB_179 NM_000166(GJB1):c.273_274delGG IPNMDB deletion exon 1 IPNMDB_180 NM_000166(GJB1):c.275_276delCC IPNMDB deletion exon 1 IPNMDB_181 NM_000166(GJB1):c.277A>G IPNMDB substitution exon 1 IPNMDB_688 NM_000166(GJB1):c.280C>G IPNMDB substitution exon 1 IPNMDB_183 NM_000166(GJB1):c.280C>T IPNMDB substitution exon 1 IPNMDB_182 NM_000166(GJB1):c.282C>A IPNMDB substitution exon 1 IPNMDB_350 NM_000166(GJB1):c.282C>G IPNMDB substitution exon 1 IPNMDB_184 NM_000166(GJB1):c.283G>A IPNMDB substitution exon 1 IPNMDB_309 NM_000166(GJB1):c.287C>T IPNMDB substitution exon 1 IPNMDB_185 NM_000166(GJB1):c.298C>T IPNMDB substitution exon 1 IPNMDB_187 NM_000166(GJB1):c.304G>T IPNMDB substitution exon 1 IPNMDB_186 NM_000166(GJB1):c.305A>G IPNMDB substitution exon 1 IPNMDB_556 NM_000166(GJB1):c.304_306delGAG IPNMDB deletion exon 1 IPNMDB_188 NM_000166(GJB1):c.307A>G IPNMDB substitution exon 1 IPNMDB_189 NM_000166(GJB1):c.311A>C IPNMDB substitution exon 1 IPNMDB_190 NM_000166(GJB1):c.313delA IPNMDB deletion exon 1 IPNMDB_310 NM_000166(GJB1):c.318A>G IPNMDB substitution exon 1 IPNMDB_191 NM_000166(GJB1):c.319C>T IPNMDB substitution exon 1 IPNMDB_568 NM_000166(GJB1):c.323T>C IPNMDB substitution exon 1 IPNMDB_580 NM_000166(GJB1):c.324_325insT IPNMDB insertion exon 1 IPNMDB_408 NM_000166(GJB1):c.329G>A IPNMDB substitution exon 1 IPNMDB_192 NM_000166(GJB1):c.332_349delATGGGGACCCCCTACACC IPNMDB deletion exon 1 IPNMDB_422 NM_000166(GJB1):c.338_345delACCCCCTA insTGGC IPNMDB complex exon 1 IPNMDB_629 NM_000166(GJB1):c.358_360delGTG IPNMDB deletion exon 1 IPNMDB_193 NM_000166(GJB1):c.359T>A IPNMDB substitution exon 1 IPNMDB_195 NM_000166(GJB1):c.371delA IPNMDB deletion exon 1 IPNMDB_194 NM_000166(GJB1):c.372G>C IPNMDB substitution exon 1 IPNMDB_581 NM_000166(GJB1):c.374T>A IPNMDB substitution exon 1 IPNMDB_682 NM_000166(GJB1):c.380T>G IPNMDB substitution exon 1 IPNMDB_311 NM_000166(GJB1):c.381C>G IPNMDB substitution exon 1 IPNMDB_196 NM_000166(GJB1):c.382T>C IPNMDB substitution exon 1 IPNMDB_441 NM_000166(GJB1):c.383C>G IPNMDB substitution exon 1 IPNMDB_689 NM_000166(GJB1):c.389C>T IPNMDB substitution exon 1 IPNMDB_313 NM_000166(GJB1):c.392T>C IPNMDB substitution exon 1 IPNMDB_312 NM_000166(GJB1):c.393G>A IPNMDB substitution exon 1 IPNMDB_198 NM_000166(GJB1):c.394_395delTG IPNMDB deletion exon 1 IPNMDB_494 NM_000166(GJB1):c.396G>A IPNMDB substitution exon 1 IPNMDB_199 NM_000166(GJB1):c.397T>C IPNMDB substitution exon 1 IPNMDB_201 NM_000166(GJB1):c.399G>A IPNMDB substitution exon 1 IPNMDB_200 NM_000166(GJB1):c.399G>T IPNMDB substitution exon 1 IPNMDB_314 NM_000166(GJB1):c.401C>A IPNMDB substitution exon 1 IPNMDB_202 NM_000166(GJB1):c.404A>G IPNMDB substitution exon 1 IPNMDB_725 GJB1:c.[407T>C]+EGR2:c.[1075C>T] IPNMDB substitution exon 1 IPNMDB_203 NM_000166(GJB1):c.410delT IPNMDB deletion exon 1 IPNMDB_315 NM_000166(GJB1):c.412A>G IPNMDB substitution exon 1 IPNMDB_617 NM_000166(GJB1):c.413G>A IPNMDB substitution exon 1 IPNMDB_204 NM_000166(GJB1):c.415G>A IPNMDB substitution exon 1 IPNMDB_856 NM_000166(GJB1):c.419T>A IPNMDB substitution exon 1 IPNMDB_205 NM_000166(GJB1):c.423C>G IPNMDB substitution exon 1 IPNMDB_206 NM_000166(GJB1):c.424C>T IPNMDB substitution exon 1 IPNMDB_207 NM_000166(GJB1):c.425G>A IPNMDB substitution exon 1 IPNMDB_857 NM_000166(GJB1):c.428T>C IPNMDB substitution exon 1 IPNMDB_208 NM_000166(GJB1):c.432_434delGTT IPNMDB deletion exon 1 IPNMDB_630 NM_000166(GJB1):c.436G>A IPNMDB substitution exon 1 IPNMDB_209 NM_000166(GJB1):c.439delG IPNMDB deletion exon 1 IPNMDB_631 NM_000166(GJB1):c.440C>A IPNMDB substitution exon 1 IPNMDB_316 NM_000166(GJB1):c.441C>T IPNMDB substitution exon 1 IPNMDB_210 NM_000166(GJB1):c.445T>A IPNMDB substitution exon 1 IPNMDB_211 NM_000166(GJB1):c.445T>G IPNMDB substitution exon 1 IPNMDB_915 NM_000166(GJB1):c.451T>C IPNMDB substitution exon 1 IPNMDB_351 NM_000166(GJB1):c.452A>C IPNMDB substitution exon 1 IPNMDB_409 NM_000166(GJB1):c.455T>A IPNMDB substitution exon 1 IPNMDB_582 NM_000166(GJB1):c.458T>C IPNMDB substitution exon 1 IPNMDB_881 NM_000166(GJB1):c.459_460delTT IPNMDB deletion exon 1 IPNMDB_212 NM_000166(GJB1):c.462T>A IPNMDB substitution exon 1 IPNMDB_858 NM_000166(GJB1):c.466_475delCTCTACCCTG IPNMDB deletion exon 1 IPNMDB_214 NM_000166(GJB1):c.466C>T IPNMDB substitution exon 1 IPNMDB_213 NM_000166(GJB1):c.467T>G IPNMDB substitution exon 1 IPNMDB_215 NM_000166(GJB1):c.470A>G IPNMDB substitution exon 1 IPNMDB_216 NM_000166(GJB1):c.472C>G IPNMDB substitution exon 1 IPNMDB_218 NM_000166(GJB1):c.472C>T IPNMDB substitution exon 1 IPNMDB_217 NM_000166(GJB1):c.473C>G IPNMDB substitution exon 1 IPNMDB_317 NM_000166(GJB1):c.473C>T IPNMDB substitution exon 1 IPNMDB_318 NM_000166(GJB1):c.474delT IPNMDB deletion exon 1 IPNMDB_219 NM_000166(GJB1):c.475G>A IPNMDB substitution exon 1 IPNMDB_558 NM_000166(GJB1):c.476G>A IPNMDB substitution exon 1 IPNMDB_220 NM_000166(GJB1):c.478T>C IPNMDB substitution exon 1 IPNMDB_221 NM_000166(GJB1):c.481G>C IPNMDB substitution exon 1 IPNMDB_319 NM_000166(GJB1):c.483C>T IPNMDB substitution exon 1 IPNMDB_223 NM_000166(GJB1):c.490C>T IPNMDB substitution exon 1 IPNMDB_222 NM_000166(GJB1):c.491G>A IPNMDB substitution exon 1 IPNMDB_410 NM_000166(GJB1):c.499A>G IPNMDB substitution exon 1 IPNMDB_726 NM_000166(GJB1):c.502T>C IPNMDB substitution exon 1 IPNMDB_320 NM_000166(GJB1):c.503G>A IPNMDB substitution exon 1 IPNMDB_321 NM_000166(GJB1):c.504C>A IPNMDB substitution exon 1 IPNMDB_322 NM_000166(GJB1):c.507C>T IPNMDB substitution exon 1 IPNMDB_618 NM_000166(GJB1):c.514C>G IPNMDB substitution exon 1 IPNMDB_225 NM_000166(GJB1):c.514C>T IPNMDB substitution exon 1 IPNMDB_323 NM_000166(GJB1):c.515C>G IPNMDB substitution exon 1 IPNMDB_224 NM_000166(GJB1):c.515C>T IPNMDB substitution exon 1 IPNMDB_226 NM_000166(GJB1):c.517T>C IPNMDB substitution exon 1 IPNMDB_468 NM_000166(GJB1):c.518G>A IPNMDB substitution exon 1 IPNMDB_227 NM_000166(GJB1):c.523A>G IPNMDB substitution exon 1 IPNMDB_228 NM_000166(GJB1):c.524_525insA IPNMDB insertion exon 1 IPNMDB_469 NM_000166(GJB1):c.526A>C IPNMDB substitution exon 1 IPNMDB_229 NM_000166(GJB1):c.530T>A IPNMDB substitution exon 1 IPNMDB_230 NM_000166(GJB1):c.530T>C IPNMDB substitution exon 1 IPNMDB_231 NM_000166(GJB1):c.532G>T IPNMDB substitution exon 1 IPNMDB_232 NM_000166(GJB1):c.535T>C IPNMDB substitution exon 1 IPNMDB_882 NM_000166(GJB1):c.536G>A IPNMDB substitution exon 1 IPNMDB_916 NM_000166(GJB1):c.538T>C IPNMDB substitution exon 1 IPNMDB_324 NM_000166(GJB1):c.539T>C IPNMDB substitution exon 1 IPNMDB_233 NM_000166(GJB1):c.540C>G IPNMDB substitution exon 1 IPNMDB_234 NM_000166(GJB1):c.541G>A IPNMDB substitution exon 1 IPNMDB_740 NM_000166(GJB1):c.542T>C IPNMDB substitution exon 1 IPNMDB_235 NM_000166(GJB1):c.544T>A IPNMDB substitution exon 1 IPNMDB_238 NM_000166(GJB1):c.547C>A IPNMDB substitution exon 1 IPNMDB_236 NM_000166(GJB1):c.547C>T IPNMDB substitution exon 1 IPNMDB_237 NM_000166(GJB1):c.548G>A IPNMDB substitution exon 1 IPNMDB_239 NM_000166(GJB1):c.551C>G IPNMDB substitution exon 1 IPNMDB_352 NM_000166(GJB1):c.551C>T IPNMDB substitution exon 1 IPNMDB_240 NM_000166(GJB1):c.553_555delACC IPNMDB deletion exon 1 IPNMDB_241 NM_000166(GJB1):c.556G>A IPNMDB substitution exon 1 IPNMDB_242 NM_000166(GJB1):c.556G>T IPNMDB substitution exon 1 IPNMDB_243 NM_000166(GJB1):c.556_557insG IPNMDB insertion exon 1 IPNMDB_244 NM_000166(GJB1):c.559A>G IPNMDB substitution exon 1 IPNMDB_845 NM_000166(GJB1):c.561_569insAACCGTCTT IPNMDB insertion exon 1 IPNMDB_325 NM_000166(GJB1):c.562A>G IPNMDB substitution exon 1 IPNMDB_246 NM_000166(GJB1):c.565G>A IPNMDB substitution exon 1 IPNMDB_245 NM_000166(GJB1):c.566T>G IPNMDB substitution exon 1 IPNMDB_486 NM_000166(GJB1):c.571A>G IPNMDB substitution exon 1 IPNMDB_834 NM_000166(GJB1):c.571_579dupACCGTCTTC IPNMDB duplication exon 1 IPNMDB_741 NM_000166(GJB1):c.572_580delCCGTCTTCA IPNMDB deletion exon 1 IPNMDB_326 NM_000166(GJB1):c.574G>T IPNMDB substitution exon 1 IPNMDB_249 NM_000166(GJB1):c.578T>G IPNMDB substitution exon 1 IPNMDB_347 NM_000166(GJB1):c.579C>G IPNMDB substitution exon 1 IPNMDB_250 NM_000166(GJB1):c.580A>G IPNMDB substitution exon 1 IPNMDB_251 NM_000166(GJB1):c.593C>T IPNMDB substitution exon 1 IPNMDB_727 NM_000166(GJB1):c.594T>A IPNMDB substitution exon 1 IPNMDB_252 NM_000166(GJB1):c.595G>C IPNMDB substitution exon 1 IPNMDB_253 NM_000166(GJB1):c.601T>C IPNMDB substitution exon 1 IPNMDB_686 NM_000166(GJB1):c.602G>A IPNMDB substitution exon 1 IPNMDB_883 NM_000166(GJB1):c.602G>T IPNMDB substitution exon 1 IPNMDB_254 NM_000166(GJB1):c.608T>A IPNMDB substitution exon 1 IPNMDB_255 NM_000166(GJB1):c.610C>G IPNMDB substitution exon 1 IPNMDB_256 NM_000166(GJB1):c.610C>T IPNMDB substitution exon 1 IPNMDB_257 NM_000166(GJB1):c.614A>G IPNMDB substitution exon 1 IPNMDB_327 NM_000166(GJB1):c.614A>T IPNMDB substitution exon 1 IPNMDB_328 NM_000166(GJB1):c.617_618insT IPNMDB insertion exon 1 IPNMDB_258 NM_000166(GJB1):c.622G>A IPNMDB substitution exon 1 IPNMDB_533 NM_000166(GJB1):c.623A>G IPNMDB substitution exon 1 IPNMDB_632 NM_000166(GJB1):c.628_630delGTG IPNMDB deletion exon 1 IPNMDB_507 NM_000166(GJB1):c.631T>C IPNMDB substitution exon 1 IPNMDB_259 NM_000166(GJB1):c.633C>A IPNMDB substitution exon 1 IPNMDB_884 NM_000166(GJB1):c.633delC IPNMDB deletion exon 1 IPNMDB_680 NM_000166(GJB1):c.634C>T IPNMDB substitution exon 1 IPNMDB_260 NM_000166(GJB1):c.637_640delATCAinsC IPNMDB complex exon 1 IPNMDB_329 NM_000166(GJB1):c.637A>G IPNMDB substitution exon 1 IPNMDB_879 NM_000166(GJB1):c.641T>A IPNMDB substitution exon 1 IPNMDB_261 NM_000166(GJB1):c.643C>T IPNMDB substitution exon 1 IPNMDB_262 NM_000166(GJB1):c.651T>A IPNMDB substitution exon 1 IPNMDB_263 NM_000166(GJB1):c.655C>T IPNMDB substitution exon 1 IPNMDB_264 NM_000166(GJB1):c.656G>A IPNMDB substitution exon 1 IPNMDB_265 NM_000166(GJB1):c.658C>G IPNMDB substitution exon 1 IPNMDB_266 NM_000166(GJB1):c.658C>T IPNMDB substitution exon 1 IPNMDB_267 NM_000166(GJB1):c.688C>T IPNMDB substitution exon 1 IPNMDB_268 NM_000166(GJB1):c.689G>T IPNMDB substitution exon 1 IPNMDB_269 NM_000166(GJB1):c.704T>G IPNMDB substitution exon 1 IPNMDB_270 NM_000166(GJB1):c.713G>A IPNMDB substitution exon 1 IPNMDB_330 NM_000166(GJB1):c.715C>A IPNMDB substitution exon 1 IPNMDB_271 NM_000166(GJB1):c.761_762insA IPNMDB insertion exon 1 IPNMDB_633 NM_000166(GJB1):c.790C>T IPNMDB substitution exon 1 IPNMDB_272 NM_000166(GJB1):c.793_821del29 IPNMDB deletion exon 1 IPNMDB_423 NM_000166(GJB1):c.838T>G IPNMDB substitution exon 1 IPNMDB_275 NM_000166(GJB1):c.841_845delTCGGC IPNMDB deletion exon 1 IPNMDB_274 NM_000166(GJB1):c.842C>A IPNMDB substitution exon 1 IPNMDB_967 NM_014823.2(WNK1):c.[639delA]+[1584_1585delAG*] IPNMDB deletion exon 1 IPNMDB_393 NM_014823.2(WNK1):c.918_919insA IPNMDB insertion exon 1 IPNMDB_809 NM_014823.2(WNK1):c.1064_1065delTC IPNMDB deletion exon 1 IPNMDB_810 NM_014823.2(WNK1):c.1134_1135insT IPNMDB insertion exon 1 IPNMDB_400 NM_001540(HSPB1):c.379C>T IPNMDB substitution exon 1 IPNMDB_401 NM_001540(HSPB1):c.404C>T IPNMDB substitution exon 1 IPNMDB_402 NM_001540(HSPB1):c.406C>T IPNMDB substitution exon 1 IPNMDB_403 NM_001540(HSPB1):c.452C>T IPNMDB substitution exon 1 IPNMDB_847 NM_001540(HSPB1):c.544C>T IPNMDB substitution exon 1 IPNMDB_404 NM_001540(HSPB1):c.545C>T IPNMDB substitution exon 1 IPNMDB_405 NM_014365(HSPB8):c.421A>G IPNMDB substitution exon 1 IPNMDB_406 NM_014365(HSPB8):c.423G>C IPNMDB substitution exon 1 IPNMDB_745 NM_014365(HSPB8):c.423G>T IPNMDB substitution exon 1 IPNMDB_889 NM_002180(IGHMBP2):c.[50T>C]+[1488C>A] IPNMDB substitution exon 1 IPNMDB_755 NM_002180(IGHMBP2):c.114delA IPNMDB deletion exon 1 IPNMDB_924 NM_002180(IGHMBP2):c.[120delC]+[1060G>A] IPNMDB complex exon 1 IPNMDB_768 NM_002180(IGHMBP2):c.[121delC]+[388C>T] IPNMDB complex exon 1 IPNMDB_546 NM_002180(IGHMBP2):c.[121C>T]+[675delT] IPNMDB complex exon 1 IPNMDB_554 NM_002180(IGHMBP2):c.[127C>T]+[1488C>A] IPNMDB substitution exon 1 IPNMDB_764 NM_002180(IGHMBP2):c.[138T>A]+[1648_1649insG] IPNMDB complex exon 1 IPNMDB_896 NM_002180(IGHMBP2):c.[163C>T]+[1969C>T] IPNMDB substitution exon 1 IPNMDB_550 NM_002180(IGHMBP2):c.180C>T IPNMDB substitution exon 1 IPNMDB_888 NM_002180(IGHMBP2):c.388C>T IPNMDB substitution exon 1 IPNMDB_758 NM_002180(IGHMBP2):c.[388C>T]+[1144G>A] IPNMDB substitution exon 1 IPNMDB_898 NM_002180(IGHMBP2):c.[388C>T]+[1743A>C] IPNMDB substitution exon 1 IPNMDB_773 NM_002180(IGHMBP2):c.[439C>T]+[2362C>T] IPNMDB substitution exon 1 IPNMDB_757 NM_002180(IGHMBP2):c.[575T>C]+[1277T>C] IPNMDB substitution exon 1 IPNMDB_662 NM_002180(IGHMBP2):c.[587A>G]+[1909C>T] IPNMDB substitution exon 1 IPNMDB_895 NM_002180(IGHMBP2):c.[616C>T]+[1877delT] IPNMDB complex exon 1 IPNMDB_544 NM_002180(IGHMBP2):c.638A>G IPNMDB substitution exon 1 IPNMDB_661 NM_002180(IGHMBP2):c.[647C>T]+[1807C>T] IPNMDB substitution exon 1 IPNMDB_890 NM_002180(IGHMBP2):c.[661delA]+[1415T>C] IPNMDB complex exon 1 IPNMDB_431 NM_002180(IGHMBP2):c.[661delA]+[?] IPNMDB deletion exon 0 IPNMDB_774 NM_002180(IGHMBP2):c.[661A>G]+[1813C>T] IPNMDB substitution exon 1 IPNMDB_767 NM_002180(IGHMBP2):c.[707T>G]+[721T>C] IPNMDB substitution exon 1 IPNMDB_548 NM_002180(IGHMBP2):c.707T>G IPNMDB substitution exon 1 IPNMDB_665 NM_002180(IGHMBP2):c.[752T>C]+[1730T>C] IPNMDB substitution exon 1 IPNMDB_897 NM_002180(IGHMBP2):c.[904C>T]+[1156T>C] IPNMDB substitution exon 1 IPNMDB_624 NM_002180(IGHMBP2):c.[958C>T]+[1488C>A] IPNMDB substitution exon 1 IPNMDB_660 NM_002180(IGHMBP2):c.[958C>T]+[1082T>C] IPNMDB substitution exon 1 IPNMDB_756 NM_002180(IGHMBP2):c.983_987delAAGAA IPNMDB deletion exon 1 IPNMDB_769 NM_002180(IGHMBP2):c.1000G>A IPNMDB substitution exon 1 IPNMDB_893 NM_002180(IGHMBP2):c.[1060+1G>T]+[1082T>C] IPNMDB substitution not within known transcription unit 1 IPNMDB_425 NM_002180(IGHMBP2):c.[1082T>C]+[1488C>A] IPNMDB substitution exon 1 IPNMDB_761 NM_002180(IGHMBP2):c.[1082T>C]+[1730T>C] IPNMDB substitution exon 1 IPNMDB_770 NM_002180(IGHMBP2):c.[1091T>C]+[2436delT] IPNMDB complex exon 1 IPNMDB_753 NM_002180(IGHMBP2):c.[1107C>G]+[256+?_1061-?del] IPNMDB complex not within known transcription unit 0 IPNMDB_891 NM_002180(IGHMBP2):c.[1156T>C]+[1813C>T] IPNMDB substitution exon 1 IPNMDB_894 NM_002180(IGHMBP2):c.[1218delC]+[1708C>T] IPNMDB complex exon 1 IPNMDB_892 NM_002180(IGHMBP2):c.[1235+3A>G]+[1334A>C] IPNMDB substitution not within known transcription unit 1 IPNMDB_547 NM_002180(IGHMBP2):c.1463delT IPNMDB deletion exon 1 IPNMDB_754 NM_002180(IGHMBP2):c.1488C>A IPNMDB substitution exon 1 IPNMDB_763 NM_002180(IGHMBP2):c.[1488C>A]+[1748A>T] IPNMDB substitution exon 1 IPNMDB_762 NM_002180(IGHMBP2):c.[1488C>A]+[1808G>A] IPNMDB substitution exon 1 IPNMDB_664 NM_002180(IGHMBP2):c.[1488C>A]+[?] IPNMDB substitution exon 0 IPNMDB_543 NM_002180(IGHMBP2):c.1540G>A IPNMDB substitution exon 1 IPNMDB_771 NM_002180(IGHMBP2):c.[1693G>A]+[1730T>C] IPNMDB substitution exon 1 IPNMDB_759 NM_002180(IGHMBP2):c.[1714_1716delAAG]+[2922T>G] IPNMDB complex exon 1 IPNMDB_545 NM_002180(IGHMBP2):c.1738G>A IPNMDB substitution exon 1 IPNMDB_877 NM_002180(IGHMBP2):c.[1738G>A]+[2356delG] IPNMDB complex exon 1 IPNMDB_772 NM_002180(IGHMBP2):c.[1756G>T]+[1909C>T] IPNMDB substitution exon 1 IPNMDB_760 NM_002180(IGHMBP2):c.[2362C>T]+[?] IPNMDB substitution exon 0 IPNMDB_549 NM_002180(IGHMBP2):c.2611+1G>T IPNMDB substitution intron 1 IPNMDB_744 NM_002180(IGHMBP2):c.2636C>A IPNMDB substitution exon 1 IPNMDB_552 NM_002180(IGHMBP2):c.2636C>A IPNMDB substitution exon 1 IPNMDB_553 NM_002180(IGHMBP2):c.2784+54G>A IPNMDB substitution intron 1 IPNMDB_514 NM_003640(IKBKAP):c.[2087G>C]+[2204+6T>C] IPNMDB substitution not within known transcription unit 1 IPNMDB_513 NM_003640(IKBKAP):c.2204+6T>C IPNMDB substitution intron 1 IPNMDB_363 NM_003640(IKBKAP):c.[2204+6T>C]+[2741C>T] IPNMDB substitution not within known transcription unit 1 IPNMDB_705 NM_004862(LITAF):c.146C>T IPNMDB substitution exon 1 IPNMDB_712 NM_004862(LITAF):c.220+38T>C IPNMDB substitution intron 1 IPNMDB_407 NM_004862(LITAF):c.222T>C IPNMDB substitution exon 1 IPNMDB_713 NM_004862(LITAF):c.274A>G IPNMDB substitution exon 1 IPNMDB_707 NM_004862(LITAF):c.330C>T IPNMDB substitution exon 1 IPNMDB_859 NM_004862(LITAF):c.332C>G IPNMDB substitution exon 1 IPNMDB_640 NM_004862(LITAF):c.334G>A IPNMDB substitution exon 1 IPNMDB_639 NM_004862(LITAF):c.344C>A IPNMDB substitution exon 1 IPNMDB_641 NM_004862(LITAF):c.346T>G IPNMDB substitution exon 1 IPNMDB_704 NM_004862(LITAF):c.364C>G IPNMDB substitution exon 1 IPNMDB_714 NM_004862(LITAF):c.378-29C>T IPNMDB substitution intron 1 IPNMDB_861 NM_004862(LITAF):c.403C>A IPNMDB substitution exon 1 IPNMDB_860 NM_004862(LITAF):c.403C>T IPNMDB substitution exon 1 IPNMDB_708 NM_004862(LITAF):c.477G>A IPNMDB substitution exon 1 IPNMDB_709 NM_004862(LITAF):c.539C>G IPNMDB substitution exon 1 IPNMDB_710 NM_004862(LITAF):c.585C>T IPNMDB substitution exon 1 IPNMDB_711 NM_004862(LITAF):c.629C>T IPNMDB substitution exon 1 IPNMDB_706 NM_004862(LITAF):c.671T>C IPNMDB substitution exon 1 IPNMDB_690 NM_005572.3(LMNA):c.99G>T IPNMDB substitution exon 1 IPNMDB_567 NM_005572.3(LMNA):c.892C>T IPNMDB substitution exon 1 IPNMDB_938 NM_005572.3(LMNA):c.1711C>T IPNMDB substitution exon 1 IPNMDB_876 NM_014874(MFN2):c.134A>G IPNMDB substitution exon 1 IPNMDB_387 NM_014874(MFN2):c.205G>T IPNMDB substitution exon 1 IPNMDB_383 NM_014874(MFN2):c.227T>C IPNMDB substitution exon 1 IPNMDB_784 NM_014874(MFN2):c.275T>C IPNMDB substitution exon 1 IPNMDB_391 NM_014874(MFN2):c.280C>T IPNMDB substitution exon 1 IPNMDB_386 NM_014874(MFN2):c.281G>A IPNMDB substitution exon 1 IPNMDB_785 NM_014874(MFN2):c.299C>G IPNMDB substitution exon 1 IPNMDB_390 NM_014874(MFN2):c.314C>T IPNMDB substitution exon 1 IPNMDB_786 NM_014874(MFN2):c.368C>T IPNMDB substitution exon 1 IPNMDB_817 NM_014874(MFN2):c.380G>A IPNMDB substitution exon 1 IPNMDB_839 NM_014874(MFN2):c.380G>T IPNMDB substitution exon 1 IPNMDB_844 NM_014874(MFN2):c.493C>G IPNMDB substitution exon 1 IPNMDB_788 NM_014874(MFN2):c.493C>T IPNMDB substitution exon 1 IPNMDB_787 NM_014874(MFN2):c.494A>G IPNMDB substitution exon 1 IPNMDB_797 NM_014874(MFN2):c.617C>T IPNMDB substitution exon 1 IPNMDB_822 NM_014874(MFN2):c.638T>C IPNMDB substitution exon 1 IPNMDB_715 NM_014874(MFN2):c.669T>A IPNMDB substitution exon 1 IPNMDB_716 NM_014874(MFN2):c.707C>T IPNMDB substitution exon 1 IPNMDB_717 NM_014874(MFN2):c.730G>A IPNMDB substitution exon 1 IPNMDB_789 NM_014874(MFN2):c.[748C>T]+[1198C>T] IPNMDB substitution exon 1 IPNMDB_790 NM_014874(MFN2):c.749G>A IPNMDB substitution exon 1 IPNMDB_385 NM_014874(MFN2):c.751C>G IPNMDB substitution exon 1 IPNMDB_818 NM_014874(MFN2):c.787T>C IPNMDB substitution exon 1 IPNMDB_821 NM_014874(MFN2):c.818T>G IPNMDB substitution exon 1 IPNMDB_389 NM_014874(MFN2):c.821G>A IPNMDB substitution exon 1 IPNMDB_798 NM_014874(MFN2):c.827A>G IPNMDB substitution exon 1 IPNMDB_791 NM_014874(MFN2):c.830A>G IPNMDB substitution exon 1 IPNMDB_384 NM_014874(MFN2):c.839G>A IPNMDB substitution exon 1 IPNMDB_718 NM_014874(MFN2):c.851T>A IPNMDB substitution exon 1 IPNMDB_824 NM_014874(MFN2):c.892G>A IPNMDB substitution exon 1 IPNMDB_823 NM_014874(MFN2):c.957C>T IPNMDB substitution exon 1 IPNMDB_840 NM_014874(MFN2):c.1040A>T IPNMDB substitution exon 1 IPNMDB_846 NM_014874(MFN2):c.1048T>C IPNMDB substitution exon 1 IPNMDB_719 NM_014874(MFN2):c.1071G>C IPNMDB substitution exon 1 IPNMDB_799 NM_014874(MFN2):c.1081C>T IPNMDB substitution exon 1 IPNMDB_819 NM_014874(MFN2):c.1085C>T IPNMDB substitution exon 1 IPNMDB_800 NM_014874(MFN2):c.1090C>T IPNMDB substitution exon 1 IPNMDB_820 NM_014874(MFN2):c.1127T>C IPNMDB substitution exon 1 IPNMDB_792 NM_014874(MFN2):c.1128G>A IPNMDB substitution exon 1 IPNMDB_793 NM_014874(MFN2):c.1134_1142delCCTGCACAT IPNMDB deletion exon 1 IPNMDB_919 NM_014874(MFN2):c.1148C>T IPNMDB substitution exon 1 IPNMDB_794 NM_014874(MFN2):c.[1157A>C;1158G>T] IPNMDB substitution exon 1 IPNMDB_388 NM_014874(MFN2):c.1252C>T IPNMDB substitution exon 1 IPNMDB_720 NM_014874(MFN2):c.1271A>G IPNMDB substitution exon 1 IPNMDB_841 NM_014874(MFN2):c.1403G>A IPNMDB substitution exon 1 IPNMDB_842 NM_014874(MFN2):c.2113G>A IPNMDB substitution exon 1 IPNMDB_795 NM_014874(MFN2):c.2129T>C IPNMDB substitution exon 1 IPNMDB_382 NM_014874(MFN2):c.2219G>C IPNMDB substitution exon 1 IPNMDB_796 NM_014874(MFN2):c.2251C>T IPNMDB substitution exon 1 IPNMDB_843 NM_014874(MFN2):c.2258_2259insT IPNMDB insertion exon 1 IPNMDB_573 D10537(MPZ):c.24C>T IPNMDB substitution exon 1 IPNMDB_849 D10537(MPZ):c.59C>T IPNMDB substitution exon 1 IPNMDB_340 D10537(MPZ):c.88_90delATCinsGGGGTTTACACC IPNMDB complex exon 1 IPNMDB_851 D10537(MPZ):c.89T>C IPNMDB substitution exon 1 IPNMDB_39 D10537(MPZ):c.90C>G IPNMDB substitution exon 1 IPNMDB_40 D10537(MPZ):c.94G>T IPNMDB substitution exon 1 IPNMDB_41 D10537(MPZ):c.101C>T IPNMDB substitution exon 1 IPNMDB_353 D10537(MPZ):c.103G>T IPNMDB substitution exon 1 IPNMDB_831 D10537(MPZ):c.106A>T IPNMDB substitution exon 1 IPNMDB_666 D10537(MPZ):c.116A>C IPNMDB substitution exon 1 IPNMDB_376 D10537(MPZ):c.[123_125delTGT]+[661G>A] IPNMDB complex exon 1 IPNMDB_42 D10537(MPZ):c.131C>T IPNMDB substitution exon 1 IPNMDB_429 D10537(MPZ):c.134G>A IPNMDB substitution exon 1 IPNMDB_832 D10537(MPZ):c.143T>C IPNMDB substitution exon 1 IPNMDB_667 D10537(MPZ):c.149_175del27 IPNMDB deletion exon 1 IPNMDB_489 D10537(MPZ):c.152C>T IPNMDB substitution exon 1 IPNMDB_339 D10537(MPZ):c.160T>C IPNMDB substitution exon 1 IPNMDB_43 D10537(MPZ):c.161C>G IPNMDB substitution exon 1 IPNMDB_412 D10537(MPZ):c.166G>A IPNMDB substitution exon 1 IPNMDB_44 D10537(MPZ):c.172G>T IPNMDB substitution exon 1 IPNMDB_670 D10537(MPZ):c.173T>A IPNMDB substitution exon 1 IPNMDB_415 D10537(MPZ):c.178G>C IPNMDB substitution exon 1 IPNMDB_506 D10537(MPZ):c.181G>A IPNMDB substitution exon 1 IPNMDB_332 D10537(MPZ):c.182A>G IPNMDB substitution exon 1 IPNMDB_45 D10537(MPZ):c.184A>T IPNMDB substitution exon 1 IPNMDB_416 D10537(MPZ):c.186C>G IPNMDB substitution exon 1 IPNMDB_46 D10537(MPZ):c.188C>G IPNMDB substitution exon 1 IPNMDB_47 D10537(MPZ):c.188C>T IPNMDB substitution exon 1 IPNMDB_48 D10537(MPZ):c.188_190delCCT IPNMDB deletion exon 1 IPNMDB_49 D10537(MPZ):c.190_192delTTC IPNMDB deletion exon 1 IPNMDB_411 D10537(MPZ):c.193A>G IPNMDB substitution exon 1 IPNMDB_683 D10537(MPZ):c.194C>A IPNMDB substitution exon 1 IPNMDB_626 D10537(MPZ):c.194C>T IPNMDB substitution exon 1 IPNMDB_777 D10537(MPZ):c.200G>C IPNMDB substitution exon 1 IPNMDB_50 D10537(MPZ):c.203A>G IPNMDB substitution exon 1 IPNMDB_912 D10537(MPZ):c.208C>T IPNMDB substitution exon 1 IPNMDB_51 D10537(MPZ):c.223delG IPNMDB deletion exon 1 IPNMDB_470 D10537(MPZ):c.224A>T IPNMDB substitution exon 1 IPNMDB_333 D10537(MPZ):c.227C>T IPNMDB substitution exon 1 IPNMDB_370 D10537(MPZ):c.233C>G IPNMDB substitution exon 1 IPNMDB_52 D10537(MPZ):c.233C>T IPNMDB substitution exon 1 IPNMDB_505 D10537(MPZ):c.211G>T IPNMDB substitution exon 1 IPNMDB_338 D10537(MPZ):c.[241C>T;337G>T] IPNMDB substitution exon 1 IPNMDB_53 D10537(MPZ):c.242A>G IPNMDB substitution exon 1 IPNMDB_850 D10537(MPZ):c.244T>C IPNMDB substitution exon 1 IPNMDB_54 D10537(MPZ):c.245A>G IPNMDB substitution exon 1 IPNMDB_55 D10537(MPZ):c.258_265delACCCTACAinsCCTCT IPNMDB complex exon 1 IPNMDB_371 D10537(MPZ):c.266T>A+274G>A+486C>G IPNMDB substitution exon 1 IPNMDB_56 D10537(MPZ):c.270C>A IPNMDB substitution exon 1 IPNMDB_97 D10537(MPZ):c.276G>A IPNMDB substitution exon 1 IPNMDB_57 D10537(MPZ):c.278G>A IPNMDB substitution exon 1 IPNMDB_58 D10537(MPZ):c.286A>G IPNMDB substitution exon 1 IPNMDB_542 D10537(MPZ):c.290A>T IPNMDB substitution exon 1 IPNMDB_61 D10537(MPZ):c.292C>A IPNMDB substitution exon 1 IPNMDB_59 D10537(MPZ):c.292C>T IPNMDB substitution exon 1 IPNMDB_60 D10537(MPZ):c.293G>A IPNMDB substitution exon 1 IPNMDB_62 D10537(MPZ):c.293G>C IPNMDB substitution exon 1 IPNMDB_63 D10537(MPZ):c.296T>C IPNMDB substitution exon 1 IPNMDB_64 D10537(MPZ):c.303G>C IPNMDB substitution exon 1 IPNMDB_65 D10537(MPZ):c.306delA IPNMDB deletion exon 1 IPNMDB_578 D10537(MPZ):c.308G>A IPNMDB substitution exon 1 IPNMDB_901 D10537(MPZ):c.313C>A IPNMDB substitution exon 1 IPNMDB_421 D10537(MPZ):c.325G>A IPNMDB substitution exon 1 IPNMDB_414 D10537(MPZ):c.327T>A IPNMDB substitution exon 1 IPNMDB_560 D10537(MPZ):c.329G>A IPNMDB substitution exon 1 IPNMDB_66 D10537(MPZ):c.335T>C IPNMDB substitution exon 1 IPNMDB_627 D10537(MPZ):c.337G>A IPNMDB substitution exon 1 IPNMDB_67 D10537(MPZ):c.[341T>C;346A>C;382G>A] IPNMDB substitution exon 1 IPNMDB_722 D10537(MPZ):c.352G>A IPNMDB substitution exon 1 IPNMDB_68 D10537(MPZ):c.355_356insTCTACT IPNMDB insertion exon 1 IPNMDB_331 D10537(MPZ):c.356A>G IPNMDB substitution exon 1 IPNMDB_69 D10537(MPZ):c.365A>G IPNMDB substitution exon 1 IPNMDB_372 D10537(MPZ):c.367G>T IPNMDB substitution exon 1 IPNMDB_776 D10537(MPZ):c.367G>A IPNMDB substitution exon 1 IPNMDB_413 D10537(MPZ):c.371C>A IPNMDB substitution exon 1 IPNMDB_70 D10537(MPZ):c.371C>T IPNMDB substitution exon 1 IPNMDB_71 D10537(MPZ):c.372_377delGTTCAC IPNMDB deletion exon 1 IPNMDB_72 D10537(MPZ):c.380G>A IPNMDB substitution exon 1 IPNMDB_418 D10537(MPZ):c.382G>A IPNMDB substitution exon 1 IPNMDB_73 D10537(MPZ):c.384C>G IPNMDB substitution exon 1 IPNMDB_74 D10537(MPZ):c.389A>G IPNMDB substitution exon 1 IPNMDB_424 D10537(MPZ):c.393C>A IPNMDB substitution exon 1 IPNMDB_75 D10537(MPZ):c.395C>T IPNMDB substitution exon 1 IPNMDB_77 D10537(MPZ):c.400G>A IPNMDB substitution exon 1 IPNMDB_341 D10537(MPZ):c.401A>G IPNMDB substitution exon 1 IPNMDB_76 D10537(MPZ):c.402C>A IPNMDB substitution exon 1 IPNMDB_78 D10537(MPZ):c.403A>C IPNMDB substitution exon 1 IPNMDB_79 D10537(MPZ):c.404T>C IPNMDB substitution exon 1 IPNMDB_373 D10537(MPZ):c.407T>A IPNMDB substitution exon 1 IPNMDB_80 D10537(MPZ):c.409G>A IPNMDB substitution exon 1 IPNMDB_342 D10537(MPZ):c.414G>C IPNMDB substitution exon 1 IPNMDB_343 D10537(MPZ):c.416C>A IPNMDB substitution exon 1 IPNMDB_575 D10537(MPZ):c.418T>A IPNMDB substitution exon 1 IPNMDB_490 D10537(MPZ):c.421C>T IPNMDB substitution exon 1 IPNMDB_81 D10537(MPZ):c.428C>T IPNMDB substitution exon 1 IPNMDB_362 D10537(MPZ):c.434A>C IPNMDB substitution exon 1 IPNMDB_439 D10537(MPZ):c.436G>T IPNMDB substitution exon 1 IPNMDB_82 D10537(MPZ):c.449-1G>C IPNMDB substitution intron 1 IPNMDB_723 D10537(MPZ):c.449-1G>T IPNMDB substitution intron 1 IPNMDB_83 D10537(MPZ):c.462C>A IPNMDB substitution exon 1 IPNMDB_84 D10537(MPZ):c.487G>A IPNMDB substitution exon 1 IPNMDB_86 D10537(MPZ):c.[496delC;499G>C] IPNMDB complex exon 1 IPNMDB_85 D10537(MPZ):c.499G>A IPNMDB substitution exon 1 IPNMDB_426 D10537(MPZ):c.506delT IPNMDB deletion exon 1 IPNMDB_88 D10537(MPZ):c.522_525delGCTT IPNMDB deletion exon 1 IPNMDB_89 D10537(MPZ):c.543C>G IPNMDB substitution exon 1 IPNMDB_922 D10537(MPZ):c.549_550insG IPNMDB insertion exon 1 IPNMDB_369 D10537(MPZ):c.550_552delCTAinsG IPNMDB complex exon 1 IPNMDB_90 D10537(MPZ):c.554delG IPNMDB deletion exon 1 IPNMDB_87 D10537(MPZ):c.563_564insAGGC IPNMDB insertion exon 1 IPNMDB_699 D10537(MPZ):c.570delG IPNMDB deletion exon 1 IPNMDB_848 D10537(MPZ):c.584+2T>G IPNMDB substitution intron 1 IPNMDB_98 D10537(MPZ):c.600G>A IPNMDB substitution exon 1 IPNMDB_91 D10537(MPZ):c.614_615insGGGAAATTGCACAAGCC IPNMDB insertion exon 1 IPNMDB_430 D10537(MPZ):c.616G>T IPNMDB substitution exon 1 IPNMDB_557 D10537(MPZ):c.637G>C IPNMDB substitution exon 1 IPNMDB_92 D10537(MPZ):c.643C>T IPNMDB substitution exon 1 IPNMDB_684 D10537(MPZ):c.645+1G>T IPNMDB substitution intron 1 IPNMDB_93 D10537(MPZ):c.662_663insGC IPNMDB insertion exon 1 IPNMDB_94 D10537(MPZ):c.676_677insCA IPNMDB insertion exon 1 IPNMDB_99 D10537(MPZ):c.684C>T IPNMDB substitution exon 1 IPNMDB_95 D10537(MPZ):c.699_702delTGAG IPNMDB deletion exon 1 IPNMDB_576 D10537(MPZ):c.706_708delAAG IPNMDB deletion exon 1 IPNMDB_724 D10537(MPZ):c.706A>G IPNMDB substitution exon 1 IPNMDB_100 D10537(MPZ):c.731G>T IPNMDB substitution exon 1 IPNMDB_493 NM_003912(MTMR2):c.8C>A IPNMDB substitution exon 1 IPNMDB_498 NM_003912(MTMR2):c.[298G>A]+[?] IPNMDB substitution exon 0 IPNMDB_502 NM_003912(MTMR2):c.308G>A IPNMDB substitution exon 1 IPNMDB_503 NM_003912(MTMR2):c.324delG IPNMDB deletion exon 1 IPNMDB_735 NM_003912(MTMR2):c.681_682ins446 IPNMDB insertion exon 1 IPNMDB_736 NM_003912(MTMR2):c.[841_844delATCA]+[?] IPNMDB deletion exon 0 IPNMDB_634 NM_003912(MTMR2):c.847C>T IPNMDB substitution exon 1 IPNMDB_495 NM_003912(MTMR2):c.1131T>C IPNMDB substitution exon 1 IPNMDB_496 NM_003912(MTMR2):c.1233G>A IPNMDB substitution exon 1 IPNMDB_501 NM_003912(MTMR2):c.1233G>T IPNMDB substitution exon 1 IPNMDB_432 NM_003912(MTMR2):c.1276C>T IPNMDB substitution exon 1 IPNMDB_434 NM_003912(MTMR2):c.1444C>T IPNMDB substitution exon 1 IPNMDB_497 NM_003912(MTMR2):c.1504G>C IPNMDB substitution exon 1 IPNMDB_499 NM_003912(MTMR2):c.[1634A>G]+[?] IPNMDB substitution exon 0 IPNMDB_779 NM_003912(MTMR2):c.1749G>A IPNMDB substitution exon 1 IPNMDB_500 NM_003912(MTMR2):c.[1805C>G]+[?] IPNMDB substitution exon 0 IPNMDB_436 NM_006096(NDRG1):c.442C>T IPNMDB substitution exon 1 IPNMDB_33 NM_006096(NDRG1):c.538-1G>A IPNMDB substitution intron 1 IPNMDB_594 NM_006158.2(NEFL):c.[19G>A]+[23C>G] IPNMDB substitution exon 1 IPNMDB_520 NM_006158.2(NEFL):c.[22C>A;23C>G] IPNMDB substitution exon 1 IPNMDB_597 NM_006158.2(NEFL):c.23C>A IPNMDB substitution exon 1 IPNMDB_595 NM_006158.2(NEFL):c.23C>G IPNMDB substitution exon 1 IPNMDB_596 NM_006158.2(NEFL):c.23C>T IPNMDB substitution exon 1 IPNMDB_863 NM_006158.2(NEFL):c.48_60dupGCGCTACGTGGAG IPNMDB duplication exon 1 IPNMDB_586 NM_006158.2(NEFL):c.64C>A IPNMDB substitution exon 1 IPNMDB_583 NM_006158.2(NEFL):c.64C>T IPNMDB substitution exon 1 IPNMDB_602 NM_006158.2(NEFL):c.192G>A IPNMDB substitution exon 1 IPNMDB_591 NM_006158.2(NEFL):c.227T>C IPNMDB substitution exon 1 IPNMDB_598 NM_006158.2(NEFL):c.268G>A IPNMDB substitution exon 1 IPNMDB_592 NM_006158.2(NEFL):c.279G>A IPNMDB substitution exon 1 IPNMDB_913 NM_006158.2(NEFL):c.281T>C IPNMDB substitution exon 1 IPNMDB_588 NM_006158.2(NEFL):c.293A>G IPNMDB substitution exon 1 IPNMDB_603 NM_006158.2(NEFL):c.423G>A IPNMDB substitution exon 1 IPNMDB_589 NM_006158.2(NEFL):c.446C>T IPNMDB substitution exon 1 IPNMDB_816 NM_006158.2(NEFL):c.639C>G IPNMDB substitution exon 1 IPNMDB_604 NM_006158.2(NEFL):c.667C>T IPNMDB substitution exon 1 IPNMDB_605 NM_006158.2(NEFL):c.720C>T IPNMDB substitution exon 1 IPNMDB_437 NM_006158.2(NEFL):c.995A>C IPNMDB substitution exon 1 IPNMDB_728 NM_006158.2(NEFL):c.998T>C IPNMDB substitution exon 1 IPNMDB_417 NM_006158.2(NEFL):c.1186G>A IPNMDB substitution exon 1 IPNMDB_606 NM_006158.2(NEFL):c.1212C>T IPNMDB substitution exon 1 IPNMDB_607 NM_006158.2(NEFL):c.1402G>A IPNMDB substitution exon 1 IPNMDB_608 NM_006158.2(NEFL):c.1458C>T IPNMDB substitution exon 1 IPNMDB_593 NM_006158.2(NEFL):c.1492G>A IPNMDB substitution exon 1 IPNMDB_748 NM_006158.2(NEFL):c.1573_1574insG IPNMDB insertion exon 1 IPNMDB_600 NM_006158.2(NEFL):c.1579_1581delGAG IPNMDB deletion exon 1 IPNMDB_396 NM_002506(NGFB):c.661C>T IPNMDB substitution exon 1 IPNMDB_442 NM_002529(NTRK1):c.[25C>T;1810C>T;1838 G>T]+[25C>T; 1810C>T; 1838 G>T] IPNMDB substitution exon 1 IPNMDB_449 NM_002529(NTRK1):c.200delA IPNMDB deletion exon 1 IPNMDB_957 NM_002529(NTRK1):c.207_208delTG IPNMDB deletion exon 1 IPNMDB_443 NM_002529(NTRK1):c.253C>A; 429-1G>C IPNMDB substitution not within known transcription unit 1 IPNMDB_454 NM_002529(NTRK1):c.278T>C IPNMDB substitution exon 1 IPNMDB_956 NM_002529(NTRK1):c.[287+2_3insT]+[2155G>A] IPNMDB complex not within known transcription unit 1 IPNMDB_958 NM_002529(NTRK1):c.354-359+3delTCGCCTGTG IPNMDB deletion not within known transcription unit 1 IPNMDB_806 NM_002529(NTRK1):c.359+5G>T IPNMDB substitution intron 1 IPNMDB_455 NM_002529(NTRK1):c.391_392delTC IPNMDB deletion exon 1 IPNMDB_456 NM_002529(NTRK1):c.490G>T IPNMDB substitution exon 1 IPNMDB_691 NM_002529(NTRK1):c.526C>T IPNMDB substitution exon 1 IPNMDB_805 NM_002529(NTRK1):c.543delG IPNMDB deletion exon 1 IPNMDB_541 NM_002529(NTRK1):c.[574+1G>A]+[1810C>T;1838G>T;1843G>T;1849G>T] IPNMDB substitution not within known transcription unit 1 IPNMDB_964 NM_002529(NTRK1):c.496G>T IPNMDB substitution exon 1 IPNMDB_453 NM_002529(NTRK1):c.[638T>C]+[924_930delGCCGGCA] IPNMDB complex exon 1 IPNMDB_700 NM_002529(NTRK1):c.[638T>C]+[1556delG] IPNMDB complex exon 1 IPNMDB_697 NM_002529(NTRK1):c.[717+1G>C]+[2144T>C] IPNMDB substitution not within known transcription unit 1 IPNMDB_451 NM_002529(NTRK1):c.850+1G>A IPNMDB substitution intron 1 IPNMDB_962 NM_002529(NTRK1):c.722_723insC IPNMDB insertion exon 1 IPNMDB_457 NM_002529(NTRK1):c.851-33T>A IPNMDB substitution intron 1 IPNMDB_535 NM_002529(NTRK1):c.1076A>G IPNMDB substitution exon 1 IPNMDB_458 NM_002529(NTRK1):c.1077C>A IPNMDB substitution exon 1 IPNMDB_695 NM_002529(NTRK1):c.1196-1G>A IPNMDB substitution intron 1 IPNMDB_955 NM_002529(NTRK1):c.[1218delC]+[851-33T>A] IPNMDB complex not within known transcription unit 1 IPNMDB_693 NM_002529(NTRK1):c.1522_1523delCG IPNMDB deletion exon 1 IPNMDB_692 NM_002529(NTRK1):c.1531_1532insGGACATCG IPNMDB insertion exon 1 IPNMDB_835 NM_002529(NTRK1):c.[1555G>C]+[2303C>T] IPNMDB substitution exon 1 IPNMDB_459 NM_002529(NTRK1):c.1564G>A IPNMDB substitution exon 1 IPNMDB_966 NM_002529(NTRK1):c.1633-1G>T IPNMDB substitution intron 1 IPNMDB_444 NM_002529(NTRK1):c.1660delC IPNMDB deletion exon 1 IPNMDB_960 NM_002529(NTRK1):c.[1672C>T]+[2150T>G] IPNMDB substitution exon 1 IPNMDB_959 NM_002529(NTRK1):c.1715T>G IPNMDB substitution exon 1 IPNMDB_445 NM_002529(NTRK1):c.1729G>C IPNMDB substitution exon 1 IPNMDB_460 NM_002529(NTRK1):c.1754delT IPNMDB deletion exon 1 IPNMDB_461 NM_002529(NTRK1):c.1804C>T IPNMDB substitution exon 1 IPNMDB_538 NM_002529(NTRK1):c.1838G>T IPNMDB substitution exon 1 IPNMDB_1 NM_002529(NTRK1):c.1860_1861insT IPNMDB insertion exon 1 IPNMDB_804 NM_002529(NTRK1):c.1877_1878insA IPNMDB insertion exon 1 IPNMDB_536 NM_002529(NTRK1):c.1887C>T IPNMDB substitution exon 1 IPNMDB_450 NM_002529(NTRK1):c.1945C>T IPNMDB substitution exon 1 IPNMDB_462 NM_002529(NTRK1):c.1960C>T IPNMDB substitution exon 1 IPNMDB_463 NM_002529(NTRK1):c.2002G>T IPNMDB substitution exon 1 IPNMDB_446 NM_002529(NTRK1):c.2046+3A>C IPNMDB substitution intron 1 IPNMDB_540 NM_002529(NTRK1):c.2052A>G IPNMDB substitution exon 1 IPNMDB_539 NM_002529(NTRK1):c.2084C>T IPNMDB substitution exon 1 IPNMDB_452 NM_002529(NTRK1):c.2140G>A IPNMDB substitution exon 1 IPNMDB_694 NM_002529(NTRK1):c.[2271C>G]+[2281C>T] IPNMDB substitution exon 1 IPNMDB_696 NM_002529(NTRK1):c.2281C>T IPNMDB substitution exon 1 IPNMDB_965 NM_002529(NTRK1):c.2308C>T IPNMDB substitution exon 1 IPNMDB_464 NM_002529(NTRK1):c.2327_2328insT IPNMDB insertion exon 1 IPNMDB_447 NM_002529(NTRK1):c.2339G>C IPNMDB substitution exon 1 IPNMDB_931 NM_020631.3(PLEKHG5):c.1940T>C IPNMDB substitution exon 1 IPNMDB_614 X65968(PMP22):c.-141C>G IPNMDB substitution 5' UTR 1 IPNMDB_619 X65968(PMP22):c.-134G>A IPNMDB substitution 5' UTR 1 IPNMDB_620 X65968(PMP22):c.-40G>A IPNMDB substitution 5' UTR 1 IPNMDB_914 X65968(PMP22):c.11delT IPNMDB deletion exon 1 IPNMDB_2 X65968(PMP22):c.19_20delAG IPNMDB deletion exon 1 IPNMDB_3 X65968(PMP22):c.36C>A IPNMDB substitution exon 1 IPNMDB_4 X65968(PMP22):c.47T>C IPNMDB substitution exon 1 IPNMDB_5 X65968(PMP22):c.56T>C IPNMDB substitution exon 1 IPNMDB_751 X65968(PMP22):c.65C>T IPNMDB substitution exon 1 IPNMDB_743 X65968(PMP22):c.68C>G IPNMDB substitution exon 1 IPNMDB_348 X65968(PMP22):c.73_78delGTCAGC IPNMDB deletion exon 1 IPNMDB_6 X65968(PMP22):c.78+1G>T IPNMDB substitution intron 1 IPNMDB_374 X65968(PMP22):c.82T>C IPNMDB substitution exon 1 IPNMDB_34 X65968(PMP22):c.87C>T IPNMDB substitution exon 1 IPNMDB_7 X65968(PMP22):c.88G>A IPNMDB substitution exon 1 IPNMDB_337 X65968(PMP22):c.110A>T IPNMDB substitution exon 1 IPNMDB_853 X65968(PMP22):c.178+1G>C IPNMDB substitution intron 1 IPNMDB_504 X65968(PMP22):c.179-1G>C IPNMDB substitution intron 1 IPNMDB_555 X65968(PMP22):c.179-2A>G IPNMDB substitution intron 1 IPNMDB_8 X65968(PMP22):c.183G>A IPNMDB substitution exon 1 IPNMDB_615 X65968(PMP22):c.193G>T IPNMDB substitution exon 1 IPNMDB_364 X65968(PMP22):c.199G>A IPNMDB substitution exon 1 IPNMDB_9 X65968(PMP22):c.199G>C IPNMDB substitution exon 1 IPNMDB_10 X65968(PMP22):c.206T>A IPNMDB substitution exon 1 IPNMDB_375 X65968(PMP22):c.212T>C IPNMDB substitution exon 1 IPNMDB_13 X65968(PMP22):c.214T>C IPNMDB substitution exon 1 IPNMDB_12 X65968(PMP22):c.215C>G IPNMDB substitution exon 1 IPNMDB_11 X65968(PMP22):c.215C>T IPNMDB substitution exon 1 IPNMDB_14 X65968(PMP22):c.227G>T IPNMDB substitution exon 1 IPNMDB_16 X65968(PMP22):c.235T>C IPNMDB substitution exon 1 IPNMDB_15 X65968(PMP22):c.236C>G IPNMDB substitution exon 1 IPNMDB_17 X65968(PMP22):c.238_239delCT IPNMDB deletion exon 1 IPNMDB_18 X65968(PMP22):c.239T>C IPNMDB substitution exon 1 IPNMDB_19 X65968(PMP22):c.251_253delTCT IPNMDB deletion exon 1 IPNMDB_621 X65968(PMP22):c.256C>T IPNMDB substitution exon 1 IPNMDB_20 X65968(PMP22):c.277G>C IPNMDB substitution exon 1 IPNMDB_22 X65968(PMP22):c.281delG IPNMDB deletion exon 1 IPNMDB_21 X65968(PMP22):c.281_282insG IPNMDB insertion exon 1 IPNMDB_23 X65968(PMP22):c.298G>A IPNMDB substitution exon 1 IPNMDB_24 X65968(PMP22):c.299G>A IPNMDB substitution exon 1 IPNMDB_622 X65968(PMP22):c.312delT IPNMDB deletion exon 1 IPNMDB_25 X65968(PMP22):c.314T>G IPNMDB substitution exon 1 IPNMDB_721 X65968(PMP22):c.318delT IPNMDB deletion exon 1 IPNMDB_26 X65968(PMP22):c.319+1G>A IPNMDB substitution intron 1 IPNMDB_27 X65968(PMP22):c.320G>T IPNMDB substitution exon 1 IPNMDB_336 X65968(PMP22):c.325T>C IPNMDB substitution exon 1 IPNMDB_703 X65968(PMP22):c.327C>A IPNMDB substitution exon 1 IPNMDB_35 X65968(PMP22):c.327C>T IPNMDB substitution exon 1 IPNMDB_635 X65968(PMP22):c.343_354delGCCATCTACACG IPNMDB deletion exon 1 IPNMDB_28 X65968(PMP22):c.353C>T IPNMDB substitution exon 1 IPNMDB_854 X65968(PMP22):c.353C>T IPNMDB substitution exon 1 IPNMDB_508 X65968(PMP22):c.364_365delCC IPNMDB deletion exon 1 IPNMDB_419 X65968(PMP22):c.372G>A IPNMDB substitution exon 1 IPNMDB_37 X65968(PMP22):c.409A>G IPNMDB substitution exon 1 IPNMDB_778 X65968(PMP22):c.433_434insC IPNMDB insertion exon 1 IPNMDB_420 X65968(PMP22):c.434delT IPNMDB deletion exon 1 IPNMDB_29 X65968(PMP22):c.440T>G IPNMDB substitution exon 1 IPNMDB_428 X65968(PMP22):c.447C>A IPNMDB substitution exon 1 IPNMDB_31 X65968(PMP22):c.448G>T IPNMDB substitution exon 1 IPNMDB_30 X65968(PMP22):c.449G>A IPNMDB substitution exon 1 IPNMDB_623 X65968(PMP22):c.468G>A IPNMDB substitution exon 1 IPNMDB_32 X65968(PMP22):c.469C>T IPNMDB substitution exon 1 IPNMDB_625 X65968(PMP22):c.499T>A IPNMDB substitution exon 1 IPNMDB_937 NM_002764.2(PRPS1):c.129A>C IPNMDB substitution exon 1 IPNMDB_936 NM_002764.2(PRPS1):c.344T>C IPNMDB substitution exon 1 IPNMDB_878 NM_020956(PRX):c.[176T>C]+[2145T>A] IPNMDB substitution exon 1 IPNMDB_571 NM_020956(PRX):c.247delC IPNMDB deletion exon 1 IPNMDB_529 NM_020956(PRX):c.306C>T IPNMDB substitution exon 1 IPNMDB_855 NM_020956(PRX):c.[385_394dupATCCAGAGTC]+[3208C>T] IPNMDB complex exon 1 IPNMDB_515 NM_020956(PRX):c.586C>T IPNMDB substitution exon 1 IPNMDB_517 NM_020956(PRX):c.[1102C>T]+[2289delT] IPNMDB complex exon 1 IPNMDB_811 NM_020956(PRX):c.1194_1197delTTCC IPNMDB deletion exon 1 IPNMDB_522 NM_020956(PRX):c.1216G>A IPNMDB substitution exon 1 IPNMDB_524 NM_020956(PRX):c.1483G>C IPNMDB substitution exon 1 IPNMDB_530 NM_020956(PRX):c.1491C>G IPNMDB substitution exon 1 IPNMDB_570 NM_020956(PRX):c.2145T>A IPNMDB substitution exon 1 IPNMDB_528 NM_020956(PRX):c.2645T>G IPNMDB substitution exon 1 IPNMDB_531 NM_020956(PRX):c.2655T>C IPNMDB substitution exon 1 IPNMDB_527 NM_020956(PRX):c.2763A>G IPNMDB substitution exon 1 IPNMDB_518 NM_020956(PRX):c.2787delC IPNMDB deletion exon 1 IPNMDB_516 NM_020956(PRX):c.[2787delC]+[2857C>T] IPNMDB complex exon 1 IPNMDB_701 NM_020956(PRX):c.3208C>T IPNMDB substitution exon 1 IPNMDB_526 NM_020956(PRX):c.3248C>G IPNMDB substitution exon 1 IPNMDB_525 NM_020956(PRX):c.3394G>A IPNMDB substitution exon 1 IPNMDB_521 NM_020956(PRX):c.3775G>A IPNMDB substitution exon 1 IPNMDB_523 NM_020956(PRX):c.4075_4077delGAG IPNMDB deletion exon 1 IPNMDB_636 NM_004637(RAB7):c.385C>T IPNMDB substitution exon 1 IPNMDB_852 NM_004637(RAB7):c.471G>C IPNMDB substitution exon 1 IPNMDB_733 NM_004637(RAB7):c.482A>C IPNMDB substitution exon 1 IPNMDB_637 NM_004637(RAB7):c.484G>A IPNMDB substitution exon 1 IPNMDB_698 NM_030962(SBF2):c.1459C>T IPNMDB substitution exon 1 IPNMDB_653 NM_030962(SBF2):c.2875C>T IPNMDB substitution exon 1 IPNMDB_654 NM_030962(SBF2):c.3586C>T IPNMDB substitution exon 1 IPNMDB_749 NM_030962(SBF2):c.4443+1G>C IPNMDB substitution intron 1 IPNMDB_782 NM_006640(SEPT9):c.262C>T IPNMDB substitution exon 1 IPNMDB_783 NM_006640(SEPT9):c.278C>T IPNMDB substitution exon 1 IPNMDB_96 NM_024577(SH3TC2):c.26delG IPNMDB deletion exon 1 IPNMDB_866 NM_024577(SH3TC2):c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG] IPNMDB complex exon 1 IPNMDB_101 NM_024577(SH3TC2):c.530-2A>G IPNMDB substitution intron 1 IPNMDB_867 NM_024577(SH3TC2):c.[920G>A]+[3326G>C] IPNMDB substitution exon 1 IPNMDB_868 NM_024577(SH3TC2):c.1171-1G>A IPNMDB substitution intron 1 IPNMDB_278 NM_024577(SH3TC2):c.1586G>A IPNMDB substitution exon 1 IPNMDB_280 NM_024577(SH3TC2):c.1747_1748delAG IPNMDB deletion exon 1 IPNMDB_285 NM_024577(SH3TC2):c.1969G>A IPNMDB substitution exon 1 IPNMDB_869 NM_024577(SH3TC2):c.1972C>T IPNMDB substitution exon 1 IPNMDB_355 NM_024577(SH3TC2):c.[1972C>T]+[2860C>T] IPNMDB substitution exon 1 IPNMDB_872 NM_024577(SH3TC2):c.[1982T>C]+[2680C>T] IPNMDB substitution exon 1 IPNMDB_356 NM_024577(SH3TC2):c.2491_2492delAG IPNMDB deletion exon 1 IPNMDB_871 NM_024577(SH3TC2):c.[2642A>T]+[2860C>T] IPNMDB substitution exon 1 IPNMDB_870 NM_024577(SH3TC2):c.2710C>T IPNMDB substitution exon 1 IPNMDB_357 NM_024577(SH3TC2):c.[2829T>G]+[2860C>T] IPNMDB substitution exon 1 IPNMDB_865 NM_024577(SH3TC2):c.2860C>T IPNMDB substitution exon 1 IPNMDB_358 NM_024577(SH3TC2):c.[2860C>T]+[3601C>T] IPNMDB substitution exon 1 IPNMDB_830 NM_024577(SH3TC2):c.3325C>T IPNMDB substitution exon 1 IPNMDB_359 NM_024577(SH3TC2):c.3341delC IPNMDB deletion exon 1 IPNMDB_647 AF116242(SLC12A6):c.2023C>T IPNMDB substitution exon 1 IPNMDB_644 AF116242(SLC12A6):c.2436delG IPNMDB deletion exon 1 IPNMDB_645 AF116242(SLC12A6):c.[2436delG]+[1584_1585delCTinsG] IPNMDB complex exon 1 IPNMDB_921 AF116242(SLC12A6):c.2995_3004delCAGATGCTCC IPNMDB deletion exon 1 IPNMDB_646 AF116242(SLC12A6):c.3031C>T IPNMDB substitution exon 1 IPNMDB_659 NM_006941(SOX10):c.748C>T IPNMDB substitution exon 1 IPNMDB_534 NM_006941(SOX10):c.795delG IPNMDB deletion exon 1 IPNMDB_519 NM_006941(SOX10):c.1400_1411delAAAGGGGGCCCT IPNMDB deletion exon 1 IPNMDB_942 NM_006415(SPTLC1):c.397T>C IPNMDB substitution exon 1 IPNMDB_509 NM_006415(SPTLC1):c.398G>A IPNMDB substitution exon 1 IPNMDB_510 NM_006415(SPTLC1):c.399T>G IPNMDB substitution exon 1 IPNMDB_511 NM_006415(SPTLC1):c.431T>A IPNMDB substitution exon 1 IPNMDB_838 NM_006415(SPTLC1):c.452G>T IPNMDB substitution exon 1 IPNMDB_940 NM_006415(SPTLC1):c.992C>T IPNMDB substitution exon 1 IPNMDB_675 NM_006415(SPTLC1):c.1160G>C IPNMDB substitution exon 1 IPNMDB_944 NM_004863.2(SPTLC2):c.1075G>A IPNMDB substitution exon 1 IPNMDB_943 NM_004863.2(SPTLC2):c.1145G>T IPNMDB substitution exon 1 IPNMDB_945 NM_004863.2(SPTLC2):c.1510A>T IPNMDB substitution exon 1 IPNMDB_801 NM_003680.2(YARS):c.121G>A IPNMDB substitution exon 1 IPNMDB_803 NM_003680.2(YARS):c.458_469delTAAAGCAGGTGG IPNMDB deletion exon 1 IPNMDB_802 NM_003680.2(YARS):c.586G>A IPNMDB substitution exon 1 RPGR_00105 U57629.1(RPGR):c.28+1G>A RPGR substitution intron 1 RPGR_00153 U57629.1(RPGR):c.28+5G>A RPGR substitution intron 1 RPGR_00268 U57629.1(RPGR):c.29-15A>G RPGR substitution intron 1 RPGR_00088 U57629.1(RPGR):c.1088_1089insT RPGR insertion exon 1 RPGR_00089 U57629.1(RPGR):c.1092_1093insT RPGR insertion exon 1 RPGR_00090 U57629.1(RPGR):c.1100delC RPGR deletion exon 1 RPGR_00289 U57629.1(RPGR):c.1117A>T RPGR substitution exon 1 RPGR_00026 U57629.1(RPGR):c.1120G>T RPGR substitution exon 1 RPGR_00290 U57629.1(RPGR):c.1135G>T RPGR substitution exon 1 RPGR_00210 U57629.1(RPGR):c.1164G>A RPGR substitution exon 1 RPGR_00211 U57629.1(RPGR):c.1164G>T RPGR substitution exon 1 RPGR_00291 U57629.1(RPGR):c.1175delC RPGR deletion exon 1 RPGR_00340 U57629.1(RPGR):c.1179T>G RPGR substitution exon 1 RPGR_00091 U57629.1(RPGR):c.1216_1217delCT RPGR deletion exon 1 RPGR_00027 U57629.1(RPGR):c.1234C>T RPGR substitution exon 1 RPGR_00092 U57629.1(RPGR):c.1238_1239insAG RPGR insertion exon 1 RPGR_00093 U57629.1(RPGR):c.1242_1243delGA RPGR deletion exon 1 RPGR_00259 U57629.1(RPGR):c.1245+2T>C RPGR substitution intron 1 RPGR_00219 U57629.1(RPGR):c.1245+3A>G RPGR substitution intron 1 RPGR_00272 U57629.1(RPGR):c.1246-13delC RPGR deletion intron 1 RPGR_00319 U57629.1(RPGR):c.1246-2A>C RPGR substitution intron 1 RPGR_00094 U57629.1(RPGR):c.1261_1279del19 RPGR deletion exon 1 RPGR_00212 U57629.1(RPGR):c.1274G>A RPGR substitution exon 1 RPGR_00213 U57629.1(RPGR):c.1291A>G RPGR substitution exon 1 RPGR_00214 U57629.1(RPGR):c.1295A>G RPGR substitution exon 1 RPGR_00028 U57629.1(RPGR):c.1307G>A RPGR substitution exon 1 RPGR_00029 U57629.1(RPGR):c.1345C>T RPGR substitution exon 1 RPGR_00215 U57629.1(RPGR):c.1367A>G RPGR substitution exon 1 RPGR_00095 U57629.1(RPGR):c.1372_1373delAG RPGR deletion exon 1 RPGR_00096 U57629.1(RPGR):c.1376_1377delTC RPGR deletion exon 1 RPGR_00338 U57629.1(RPGR):c.1399C>T RPGR substitution exon 1 RPGR_00097 U57629.1(RPGR):c.1402_1405delCCAG RPGR deletion exon 1 RPGR_00320 U57629.1(RPGR):c.1414+2T>A RPGR substitution intron 1 RPGR_00098 U57629.1(RPGR):c.1477delC RPGR deletion exon 1 RPGR_00277 U57629.1(RPGR):c.1507-130T>C RPGR substitution intron 1 RPGR_00275 U57629.1(RPGR):c.1507-101T>A RPGR substitution intron 1 RPGR_00276 U57629.1(RPGR):c.1507-101T>AA RPGR substitution intron 1 RPGR_00274 U57629.1(RPGR):c.1507-101_1507-104del4 RPGR deletion intron 1 RPGR_00281 U57629.1(RPGR):c.1507-97T>C RPGR substitution intron 1 RPGR_00278 U57629.1(RPGR):c.1507-68T>C RPGR substitution intron 1 RPGR_00099 U57629.1(RPGR):c.1512_1513delCA RPGR deletion exon 1 RPGR_00321 U57629.1(RPGR):c.1572+1G>A RPGR substitution intron 1 RPGR_00326 U57629.1(RPGR):c.1572+11A>G RPGR substitution intron 1 RPGR_00220 U57629.1(RPGR):c.1573-8A>G RPGR substitution intron 1 RPGR_00337 U57629.1(RPGR):c.1573-3C>G RPGR substitution intron 1 RPGR_00221 U57629.1(RPGR):c.1573-2A>G RPGR substitution intron 1 RPGR_00222 U57629.1(RPGR):c.1573-1G>A RPGR substitution intron 1 RPGR_00216 U57629.1(RPGR):c.1576_1578delCAA RPGR deletion exon 1 RPGR_00100 U57629.1(RPGR):c.1582_1585del4 RPGR deletion exon 1 RPGR_00217 U57629.1(RPGR):c.1598C>T RPGR substitution exon 1 RPGR_00342 U57629.1(RPGR):c.1628_1629insAACGATGA RPGR insertion exon 1 RPGR_00101 U57629.1(RPGR):c.1685_1686delAT RPGR deletion exon 1 RPGR_00218 U57629.1(RPGR):c.1687G>A RPGR substitution exon 1 RPGR_00260 U57629.1(RPGR):c.1697G>A RPGR substitution exon 1 RPGR_00030 U57629.1(RPGR):c.1747G>T RPGR substitution exon 1 RPGR_00283 U57629.1(RPGR):c.2092-137T>A RPGR substitution intron 1 RPGR_00323 U57629.1(RPGR):c.2149+46C>T RPGR substitution intron 1 RPGR_00324 U57629.1(RPGR):c.2241+11T>C RPGR substitution intron 1 RPGR_00067 U57629.1(RPGR):c.33delG RPGR deletion exon 1 RPGR_00068 U57629.1(RPGR):c.101delA RPGR deletion exon 1 RPGR_00261 U57629.1(RPGR):c.122C>G RPGR substitution exon 1 RPGR_00001 U57629.1(RPGR):c.127G>A RPGR substitution exon 1 RPGR_00002 U57629.1(RPGR):c.128G>A RPGR substitution exon 1 RPGR_00203 U57629.1(RPGR):c.141T>G RPGR substitution exon 1 RPGR_00204 U57629.1(RPGR):c.153C>T RPGR substitution exon 1 RPGR_00003 U57629.1(RPGR):c.154G>T RPGR substitution exon 1 RPGR_00247 U57629.1(RPGR):c.155-2A>G RPGR substitution intron 1 RPGR_00224 U57629.1(RPGR):c.155-1G>A RPGR substitution intron 1 RPGR_00004 U57629.1(RPGR):c.179G>T RPGR substitution exon 1 RPGR_00263 U57629.1(RPGR):c.194delG RPGR deletion exon 1 RPGR_00262 U57629.1(RPGR):c.194G>T RPGR substitution exon 1 RPGR_00205 U57629.1(RPGR):c.223A>G RPGR substitution exon 1 RPGR_00206 U57629.1(RPGR):c.227G>T RPGR substitution exon 1 RPGR_00070 U57629.1(RPGR):c.237_238delAT RPGR deletion exon 1 RPGR_00207 U57629.1(RPGR):c.248-6T>A RPGR substitution intron 1 RPGR_00071 U57629.1(RPGR):c.274_277dup4 RPGR duplication exon 1 RPGR_00005 U57629.1(RPGR):c.294C>A RPGR substitution exon 1 RPGR_00006 U57629.1(RPGR):c.296C>A RPGR substitution exon 1 RPGR_00208 U57629.1(RPGR):c.310+1G>A RPGR substitution intron 1 RPGR_00209 U57629.1(RPGR):c.310+1G>C RPGR substitution intron 1 RPGR_00251 U57629.1(RPGR):c.310+3A>G RPGR substitution intron 1 RPGR_00265 U57629.1(RPGR):c.323_328del6 RPGR deletion exon 1 RPGR_00266 U57629.1(RPGR):c.350G>A RPGR substitution exon 1 RPGR_00073 U57629.1(RPGR):c.356delT RPGR deletion exon 1 RPGR_00103 U57629.1(RPGR):c.371delC RPGR deletion exon 1 RPGR_00007 U57629.1(RPGR):c.379A>G RPGR substitution exon 1 RPGR_00008 U57629.1(RPGR):c.390T>G RPGR substitution exon 1 RPGR_00270 U57629.1(RPGR):c.408delT RPGR deletion exon 1 RPGR_00009 U57629.1(RPGR):c.415G>T RPGR substitution exon 1 RPGR_00010 U57629.1(RPGR):c.455C>T RPGR substitution exon 1 RPGR_00252 U57629.1(RPGR):c.469+1G>T RPGR substitution intron 1 RPGR_00282 U57629.1(RPGR):c.482delT RPGR deletion exon 1 RPGR_00074 U57629.1(RPGR):c.482_483delTT RPGR deletion exon 1 RPGR_00104 U57629.1(RPGR):c.485_486delTT RPGR deletion exon 1 RPGR_00075 U57629.1(RPGR):c.486delT RPGR deletion exon 1 RPGR_00011 U57629.1(RPGR):c.492G>A RPGR substitution exon 1 RPGR_00322 U57629.1(RPGR):c.494G>T RPGR substitution exon 1 RPGR_00012 U57629.1(RPGR):c.517G>C RPGR substitution exon 1 RPGR_00013 U57629.1(RPGR):c.581G>A RPGR substitution exon 1 RPGR_00284 U57629.1(RPGR):c.583A>G RPGR substitution exon 1 RPGR_00348 U57629.1(RPGR):c.593G>A RPGR substitution exon 1 RPGR_00014 U57629.1(RPGR):c.605C>A RPGR substitution exon 1 RPGR_00253 U57629.1(RPGR):c.619+5G>A RPGR substitution intron 1 RPGR_00254 U57629.1(RPGR):c.619+9del RPGR deletion intron 1 RPGR_00271 U57629.1(RPGR):c.619+16A>G RPGR substitution intron 1 RPGR_00269 U57629.1(RPGR):c.620-41T>C RPGR substitution intron 1 RPGR_00077 U57629.1(RPGR):c.629_639del11 RPGR deletion exon 1 RPGR_00015 U57629.1(RPGR):c.644G>T RPGR substitution exon 1 RPGR_00078 U57629.1(RPGR):c.697_724del28 RPGR deletion exon 1 RPGR_00016 U57629.1(RPGR):c.703C>T RPGR substitution exon 1 RPGR_00031 U57629.1(RPGR):c.706C>T RPGR substitution exon 1 RPGR_00032 U57629.1(RPGR):c.730A>T RPGR substitution exon 1 RPGR_00248 U57629.1(RPGR):c.732G>A RPGR substitution exon 1 RPGR_00080 U57629.1(RPGR):c.747delC RPGR deletion exon 1 RPGR_00017 U57629.1(RPGR):c.748T>C RPGR substitution exon 1 RPGR_00018 U57629.1(RPGR):c.749G>A RPGR substitution exon 1 RPGR_00079 U57629.1(RPGR):c.749_750delGT RPGR deletion exon 1 RPGR_00285 U57629.1(RPGR):c.752_753delTG RPGR deletion exon 1 RPGR_00341 U57629.1(RPGR):c.764C>T RPGR substitution exon 1 RPGR_00081 U57629.1(RPGR):c.771_773delTCT RPGR deletion exon 1 RPGR_00255 U57629.1(RPGR):c.778-1G>A RPGR substitution intron 1 RPGR_00318 U57629.1(RPGR):c.778+1G>C RPGR substitution intron 1 RPGR_00256 U57629.1(RPGR):c.778+5G>A RPGR substitution intron 1 RPGR_00349 U57629.1(RPGR):c.779-5T>G RPGR substitution intron 1 RPGR_00249 U57629.1(RPGR):c.785C>G RPGR substitution exon 1 RPGR_00082 U57629.1(RPGR):c.786_787delTG RPGR deletion exon 1 RPGR_00019 U57629.1(RPGR):c.799G>A RPGR substitution exon 1 RPGR_00286 U57629.1(RPGR):c.800G>A RPGR substitution exon 1 RPGR_00350 U57629.1(RPGR):c.812_813delTT RPGR deletion exon 1 RPGR_00287 U57629.1(RPGR):c.814G>A RPGR substitution exon 1 RPGR_00288 U57629.1(RPGR):c.817C>T RPGR substitution exon 1 RPGR_00020 U57629.1(RPGR):c.823G>A RPGR substitution exon 1 RPGR_00083 U57629.1(RPGR):c.837delT RPGR deletion exon 1 RPGR_00084 U57629.1(RPGR):c.838_842del5 RPGR deletion exon 1 RPGR_00021 U57629.1(RPGR):c.865A>G RPGR substitution exon 1 RPGR_00085 U57629.1(RPGR):c.869delA RPGR deletion exon 1 RPGR_00086 U57629.1(RPGR):c.886_900del15 RPGR deletion exon 1 RPGR_00087 U57629.1(RPGR):c.891_892delAA RPGR deletion exon 1 RPGR_00022 U57629.1(RPGR):c.904T>C RPGR substitution exon 1 RPGR_00023 U57629.1(RPGR):c.905G>A RPGR substitution exon 1 RPGR_00024 U57629.1(RPGR):c.934G>A RPGR substitution exon 1 RPGR_00025 U57629.1(RPGR):c.934G>T RPGR substitution exon 1 RPGR_00257 U57629.1(RPGR):c.934+1G>A RPGR substitution intron 1 RPGR_00258 U57629.1(RPGR):c.934+1G>C RPGR substitution intron 1 RPGR_00033 U57629.1(RPGR):c.958G>A RPGR substitution exon 1 RPGR_00034 U57629.1(RPGR):c.980T>G RPGR substitution exon 1 RPGR_00035 U57629.1(RPGR):c.994G>T RPGR substitution exon 1 RPGR_00250 U57629.1(RPGR):c.1033A>G RPGR substitution exon 1 RPGR_00339 U57629.1(RPGR):c.1059+2T>C RPGR substitution intron 1 RPGR_00336 U57629.1(RPGR):c.1059+363G>A RPGR substitution intron 1 RPGR_00036 BK005711.1(RPGR):c.1765G>T RPGR substitution exon 1 RPGR_00102 BK005711.1(RPGR):c.1835_1836insA RPGR insertion exon 1 RPGR_00106 BK005711.1(RPGR):c.1869_1870delAG RPGR deletion exon 1 RPGR_00107 BK005711.1(RPGR):c.1872_1873delGA RPGR deletion exon 1 RPGR_00108 BK005711.1(RPGR):c.1926_1927insA RPGR insertion exon 1 RPGR_00037 BK005711.1(RPGR):c.1928C>G RPGR substitution exon 1 RPGR_00351 BK005711.1(RPGR):c.1933_1934insC RPGR insertion exon 1 RPGR_00109 BK005711.1(RPGR):c.1938_1939insAGAGG RPGR insertion exon 1 RPGR_00110 BK005711.1(RPGR):c.1952_1953insT RPGR insertion exon 1 RPGR_00111 BK005711.1(RPGR):c.2002delC RPGR deletion exon 1 RPGR_00038 BK005711.1(RPGR):c.2007G>A RPGR substitution exon 1 RPGR_00112 BK005711.1(RPGR):c.2049_2128dup80 RPGR duplication exon 1 RPGR_00039 BK005711.1(RPGR):c.2080A>T RPGR substitution exon 1 RPGR_00113 BK005711.1(RPGR):c.2105_2213dup109 RPGR duplication exon 1 RPGR_00114 BK005711.1(RPGR):c.2109_2110insGAAG RPGR insertion exon 1 RPGR_00040 BK005711.1(RPGR):c.2122G>T RPGR substitution exon 1 RPGR_00115 BK005711.1(RPGR):c.2144_2216dup73 RPGR duplication exon 1 RPGR_00041 BK005711.1(RPGR):c.2146G>T RPGR substitution exon 1 RPGR_00345 BK005711.1(RPGR):c.2148_2149ins356 RPGR insertion exon 1 RPGR_00325 BK005711.1(RPGR):c.2153delG RPGR deletion exon 1 RPGR_00116 BK005711.1(RPGR):c.2155_2156insC RPGR insertion exon 1 RPGR_00117 BK005711.1(RPGR):c.2167delA RPGR deletion exon 1 RPGR_00343 BK005711.1(RPGR):c.2171delA RPGR deletion exon 1 RPGR_00042 BK005711.1(RPGR):c.2173C>T RPGR substitution exon 1 RPGR_00043 BK005711.1(RPGR):c.2176G>T RPGR substitution exon 1 RPGR_00118 BK005711.1(RPGR):c.2185delG RPGR deletion exon 1 RPGR_00119 BK005711.1(RPGR):c.2187delG RPGR deletion exon 1 RPGR_00292 BK005711.1(RPGR):c.2189delG RPGR deletion exon 1 RPGR_00044 BK005711.1(RPGR):c.2218G>T RPGR substitution exon 1 RPGR_00330 BK005711.1(RPGR):c.2223G>A RPGR substitution exon 1 RPGR_00120 BK005711.1(RPGR):c.2233_2234delAG RPGR deletion exon 1 RPGR_00121 BK005711.1(RPGR):c.2234_2235delGA RPGR deletion exon 1 RPGR_00122 BK005711.1(RPGR):c.2234_2237delGAGA RPGR deletion exon 1 RPGR_00123 BK005711.1(RPGR):c.2235_2236delAG RPGR deletion exon 1 RPGR_00352 BK005711.1(RPGR):c.2235_2238delAGAA RPGR deletion exon 1 RPGR_00124 BK005711.1(RPGR):c.2236_2237delGA RPGR deletion exon 1 RPGR_00293 BK005711.1(RPGR):c.2241_2242delGG RPGR deletion exon 1 RPGR_00045 BK005711.1(RPGR):c.2245G>T RPGR substitution exon 1 RPGR_00125 BK005711.1(RPGR):c.2252_2255delAGGA RPGR deletion exon 1 RPGR_00126 BK005711.1(RPGR):c.2256_2259delGGGA RPGR deletion exon 1 RPGR_00127 BK005711.1(RPGR):c.2257_2260delGGAG RPGR deletion exon 1 RPGR_00046 BK005711.1(RPGR):c.2260G>T RPGR substitution exon 1 RPGR_00353 BK005711.1(RPGR):c.2268delA RPGR deletion exon 1 RPGR_00128 BK005711.1(RPGR):c.2270_2271delAG RPGR deletion exon 1 RPGR_00047 BK005711.1(RPGR):c.2293G>T RPGR substitution exon 1 RPGR_00294 BK005711.1(RPGR):c.2305G>A RPGR substitution exon 1 RPGR_00295 BK005711.1(RPGR):c.2311delG RPGR deletion exon 1 RPGR_00296 BK005711.1(RPGR):c.2319_2320delAG RPGR deletion exon 1 RPGR_00354 BK005711.1(RPGR):c.2321_2330delAGAGGAAAAA RPGR deletion exon 1 RPGR_00129 BK005711.1(RPGR):c.2323_2324delAG RPGR deletion exon 1 RPGR_00130 BK005711.1(RPGR):c.2340delA RPGR deletion exon 1 RPGR_00131 BK005711.1(RPGR):c.2340_2341delAG RPGR deletion exon 1 RPGR_00329 BK005711.1(RPGR):c.2341G>A RPGR substitution exon 1 RPGR_00132 BK005711.1(RPGR):c.2357_2358delAA RPGR deletion exon 1 RPGR_00133 BK005711.1(RPGR):c.2384delA RPGR deletion exon 1 RPGR_00134 BK005711.1(RPGR):c.2398delG RPGR deletion exon 1 RPGR_00135 BK005711.1(RPGR):c.2400_2401delAA RPGR deletion exon 1 RPGR_00223 BK005711.1(RPGR):c.2401A>G RPGR substitution exon 1 RPGR_00136 BK005711.1(RPGR):c.2403_2404delAG RPGR deletion exon 1 RPGR_00137 BK005711.1(RPGR):c.2403_2406delAGAG RPGR deletion exon 1 RPGR_00138 BK005711.1(RPGR):c.2404_2405delGA RPGR deletion exon 1 RPGR_00139 BK005711.1(RPGR):c.2405_2406delAG RPGR deletion exon 1 RPGR_00140 BK005711.1(RPGR):c.2412_2413delAG RPGR deletion exon 1 RPGR_00141 BK005711.1(RPGR):c.2423_2424delAA RPGR deletion exon 1 RPGR_00142 BK005711.1(RPGR):c.2425_2426delGA RPGR deletion exon 1 RPGR_00143 BK005711.1(RPGR):c.2426_2427delAG RPGR deletion exon 1 RPGR_00048 BK005711.1(RPGR):c.2437G>T RPGR substitution exon 1 RPGR_00144 BK005711.1(RPGR):c.2442_2445delAGAG RPGR deletion exon 1 RPGR_00355 BK005711.1(RPGR):c.2443G>A RPGR substitution exon 1 RPGR_00238 BK005711.1(RPGR):c.2447_2461del15 RPGR deletion exon 1 RPGR_00297 BK005711.1(RPGR):c.2464_2468delGGGAA RPGR deletion exon 1 RPGR_00298 BK005711.1(RPGR):c.2467A>T RPGR substitution exon 1 RPGR_00299 BK005711.1(RPGR):c.2472_2485del14 RPGR deletion exon 1 RPGR_00300 BK005711.1(RPGR):c.2473_2474delGA RPGR deletion exon 1 RPGR_00301 BK005711.1(RPGR):c.2473_2486del14 RPGR deletion exon 1 RPGR_00145 BK005711.1(RPGR):c.2476_2477delAG RPGR deletion exon 1 RPGR_00146 BK005711.1(RPGR):c.2480_2520dup41 RPGR duplication exon 1 RPGR_00049 BK005711.1(RPGR):c.2491G>T RPGR substitution exon 1 RPGR_00147 BK005711.1(RPGR):c.2493_2494delGG RPGR deletion exon 1 RPGR_00302 BK005711.1(RPGR):c.2494G>T RPGR substitution exon 1 RPGR_00148 BK005711.1(RPGR):c.2495_2516del22 RPGR deletion exon 1 RPGR_00149 BK005711.1(RPGR):c.2499delT RPGR deletion exon 1 RPGR_00356 BK005711.1(RPGR):c.2499_2500dupTG RPGR duplication exon 1 RPGR_00150 BK005711.1(RPGR):c.2501delA RPGR deletion exon 1 RPGR_00151 BK005711.1(RPGR):c.2505_2506delGG RPGR deletion exon 1 RPGR_00152 BK005711.1(RPGR):c.2506delG RPGR deletion exon 1 RPGR_00303 BK005711.1(RPGR):c.2506dupG RPGR duplication exon 1 RPGR_00154 BK005711.1(RPGR):c.2516_2520delAAGGG RPGR deletion exon 1 RPGR_00155 BK005711.1(RPGR):c.2517_2518delAG RPGR deletion exon 1 RPGR_00156 BK005711.1(RPGR):c.2522delA RPGR deletion exon 1 RPGR_00157 BK005711.1(RPGR):c.2529delA RPGR deletion exon 1 RPGR_00050 BK005711.1(RPGR):c.2536G>T RPGR substitution exon 1 RPGR_00226 BK005711.1(RPGR):c.2541_2561del21 RPGR deletion exon 1 RPGR_00158 BK005711.1(RPGR):c.2543delA RPGR deletion exon 1 RPGR_00344 BK005711.1(RPGR):c.2548delG RPGR deletion exon 1 RPGR_00346 BK005711.1(RPGR):c.2548_2667del120insAGGGAGAA RPGR complex exon 1 RPGR_00159 BK005711.1(RPGR):c.2554_2555insG RPGR insertion exon 1 RPGR_00051 BK005711.1(RPGR):c.2557G>T RPGR substitution exon 1 RPGR_00160 BK005711.1(RPGR):c.2571_2572delAG RPGR deletion exon 1 RPGR_00161 BK005711.1(RPGR):c.2586_2587delGG RPGR deletion exon 1 RPGR_00052 BK005711.1(RPGR):c.2590G>T RPGR substitution exon 1 RPGR_00162 BK005711.1(RPGR):c.2601_2602delGG RPGR deletion exon 1 RPGR_00227 BK005711.1(RPGR):c.2606_2620del15 RPGR deletion exon 1 RPGR_00304 BK005711.1(RPGR):c.2608_2611delGAAG RPGR deletion exon 1 RPGR_00163 BK005711.1(RPGR):c.2613_2614delGG RPGR deletion exon 1 RPGR_00228 BK005711.1(RPGR):c.2615_2616ins21 RPGR insertion exon 1 RPGR_00165 BK005711.1(RPGR):c.2625_2626insA RPGR insertion exon 1 RPGR_00166 BK005711.1(RPGR):c.2628_2629delGG RPGR deletion exon 1 RPGR_00053 BK005711.1(RPGR):c.2629G>T RPGR substitution exon 1 RPGR_00305 BK005711.1(RPGR):c.2635dupG RPGR duplication exon 1 RPGR_00054 BK005711.1(RPGR):c.2650G>T RPGR substitution exon 1 RPGR_00167 BK005711.1(RPGR):c.2655_2656delGG RPGR deletion exon 1 RPGR_00168 BK005711.1(RPGR):c.2659_2662delGGAG RPGR deletion exon 1 RPGR_00231 BK005711.1(RPGR):c.2665G>T RPGR substitution exon 1 RPGR_00229 BK005711.1(RPGR):c.2665_2667delGAG RPGR deletion exon 1 RPGR_00230 BK005711.1(RPGR):c.2667_2669delGGA RPGR deletion exon 1 RPGR_00264 BK005711.1(RPGR):c.2670_2744dup75 RPGR duplication exon 1 RPGR_00169 BK005711.1(RPGR):c.2679_2680delGG RPGR deletion exon 1 RPGR_00055 BK005711.1(RPGR):c.2683G>T RPGR substitution exon 1 RPGR_00056 BK005711.1(RPGR):c.2707G>T RPGR substitution exon 1 RPGR_00170 BK005711.1(RPGR):c.2714_2715delAA RPGR deletion exon 1 RPGR_00171 BK005711.1(RPGR):c.2715_2716insCCTC RPGR insertion exon 1 RPGR_00057 BK005711.1(RPGR):c.2716G>T RPGR substitution exon 1 RPGR_00232 BK005711.1(RPGR):c.2717_2719delAGG RPGR deletion exon 1 RPGR_00172 BK005711.1(RPGR):c.2730_2731delGG RPGR deletion exon 1 RPGR_00173 BK005711.1(RPGR):c.2760_2761delAG RPGR deletion exon 1 RPGR_00174 BK005711.1(RPGR):c.2763_2764delGG RPGR deletion exon 1 RPGR_00058 BK005711.1(RPGR):c.2782G>T RPGR substitution exon 1 RPGR_00175 BK005711.1(RPGR):c.2790_2791delGG RPGR deletion exon 1 RPGR_00306 BK005711.1(RPGR):c.2792delA RPGR deletion exon 1 RPGR_00059 BK005711.1(RPGR):c.2800G>T RPGR substitution exon 1 RPGR_00234 BK005711.1(RPGR):c.2804_2824dup21 RPGR duplication exon 1 RPGR_00060 BK005711.1(RPGR):c.2812G>T RPGR substitution exon 1 RPGR_00233 BK005711.1(RPGR):c.2820_2840dup21 RPGR duplication exon 1 RPGR_00176 BK005711.1(RPGR):c.2836_2840delGGGGA RPGR deletion exon 1 RPGR_00307 BK005711.1(RPGR):c.2838_2839delGG RPGR deletion exon 1 RPGR_00308 BK005711.1(RPGR):c.2840delA RPGR deletion exon 1 RPGR_00309 BK005711.1(RPGR):c.2840_2844del5 RPGR deletion exon 1 RPGR_00177 BK005711.1(RPGR):c.2845delG RPGR deletion exon 1 RPGR_00061 BK005711.1(RPGR):c.2848G>T RPGR substitution exon 1 RPGR_00178 BK005711.1(RPGR):c.2851_2854delGAGG RPGR deletion exon 1 RPGR_00179 BK005711.1(RPGR):c.2862dupA RPGR duplication exon 1 RPGR_00180 BK005711.1(RPGR):c.2866delG RPGR deletion exon 1 RPGR_00311 BK005711.1(RPGR):c.2867delA RPGR deletion exon 1 RPGR_00062 BK005711.1(RPGR):c.2872G>T RPGR substitution exon 1 RPGR_00235 BK005711.1(RPGR):c.2884G>A RPGR substitution exon 1 RPGR_00181 BK005711.1(RPGR):c.2892_2893delGG RPGR deletion exon 1 RPGR_00310 BK005711.1(RPGR):c.2893delG RPGR deletion exon 1 RPGR_00182 BK005711.1(RPGR):c.2894delA RPGR deletion exon 1 RPGR_00183 BK005711.1(RPGR):c.2899delG RPGR deletion exon 1 RPGR_00236 BK005711.1(RPGR):c.2903_2923dup21 RPGR duplication exon 1 RPGR_00312 BK005711.1(RPGR):c.2908_2931dup24 RPGR duplication exon 1 RPGR_00184 BK005711.1(RPGR):c.2916_2917delGG RPGR deletion exon 1 RPGR_00063 BK005711.1(RPGR):c.2917G>T RPGR substitution exon 1 RPGR_00237 BK005711.1(RPGR):c.2918_2938dup21 RPGR duplication exon 1 RPGR_00335 BK005711.1(RPGR):c.2919delA RPGR deletion exon 1 RPGR_00328 BK005711.1(RPGR):c.2924_2943dup20 RPGR duplication exon 1 RPGR_00064 BK005711.1(RPGR):c.2929G>T RPGR substitution exon 1 RPGR_00185 BK005711.1(RPGR):c.2935_2936delGG RPGR deletion exon 1 RPGR_00186 BK005711.1(RPGR):c.2944delG RPGR deletion exon 1 RPGR_00187 BK005711.1(RPGR):c.2952_2978del27insT RPGR complex exon 1 RPGR_00314 BK005711.1(RPGR):c.2964_2965delGG RPGR deletion exon 1 RPGR_00267 BK005711.1(RPGR):c.2973_2987del15 RPGR deletion exon 1 RPGR_00188 BK005711.1(RPGR):c.2984_2985delGG RPGR deletion exon 1 RPGR_00334 BK005711.1(RPGR):c.2985_2986delGG RPGR deletion exon 1 RPGR_00189 BK005711.1(RPGR):c.2992_2996delGAAGG RPGR deletion exon 1 RPGR_00190 BK005711.1(RPGR):c.2995_2996delGG RPGR deletion exon 1 RPGR_00191 BK005711.1(RPGR):c.2997_2998delGG RPGR deletion exon 1 RPGR_00192 BK005711.1(RPGR):c.3007_3008delGG RPGR deletion exon 1 RPGR_00193 BK005711.1(RPGR):c.3007_3010delGGAG RPGR deletion exon 1 RPGR_00194 BK005711.1(RPGR):c.3011_3012delAG RPGR deletion exon 1 RPGR_00333 BK005711.1(RPGR):c.3027_3028delGG RPGR deletion exon 1 RPGR_00195 BK005711.1(RPGR):c.3050_3051delAG RPGR deletion exon 1 RPGR_00239 BK005711.1(RPGR):c.3051_3062del12 RPGR deletion exon 1 RPGR_00196 BK005711.1(RPGR):c.3058delG RPGR deletion exon 1 RPGR_00240 BK005711.1(RPGR):c.3060_3071del12 RPGR deletion exon 1 RPGR_00241 BK005711.1(RPGR):c.3061_3072del12 RPGR deletion exon 1 RPGR_00242 BK005711.1(RPGR):c.3074_3085del12 RPGR deletion exon 1 RPGR_00197 BK005711.1(RPGR):c.3090_3091delAG RPGR deletion exon 1 RPGR_00198 BK005711.1(RPGR):c.3092delA RPGR deletion exon 1 RPGR_00199 BK005711.1(RPGR):c.3092_3093delAG RPGR deletion exon 1 RPGR_00200 BK005711.1(RPGR):c.3096_3097delGG RPGR deletion exon 1 RPGR_00201 BK005711.1(RPGR):c.3097delG RPGR deletion exon 1 RPGR_00315 BK005711.1(RPGR):c.3175_3176delAG RPGR deletion exon 1 RPGR_00065 BK005711.1(RPGR):c.3211G>T RPGR substitution exon 1 RPGR_00243 BK005711.1(RPGR):c.3219C>T RPGR substitution exon 1 RPGR_00244 BK005711.1(RPGR):c.3231T>A RPGR substitution exon 1 RPGR_00066 BK005711.1(RPGR):c.3232G>T RPGR substitution exon 1 RPGR_00202 BK005711.1(RPGR):c.3316_3319delAAGT RPGR deletion exon 1 RPGR_00313 BK005711.1(RPGR):c.3317_3318insA RPGR insertion exon 1 RPGR_00317 BK005711.1(RPGR):c.3394_3395delAA RPGR deletion exon 1 RPGR_00358 BK005711.1(RPGR):c.3395delA RPGR deletion exon 1 RPGR_00245 BK005711.1(RPGR):c.3396T>C RPGR substitution exon 1 RPGR_00332 BK005711.1(RPGR):c.3428A>G RPGR substitution exon 1 RPGR_00246 BK005711.1(RPGR):c.3430A>G RPGR substitution exon 1 X-ALD_c.-59C>T ABCD1:c.-59C>T X-ALD substitution not within known transcription unit 1 X-ALD_c.-17_8del26 ABCD1:c.-17_8del26 X-ALD deletion not within known transcription unit 1 X-ALD_c.-24_57del81insA ABCD1:c.-24_57del81insA X-ALD complex not within known transcription unit 1 X-ALD_c.1A>G ABCD1:c.1A>G X-ALD substitution exon 1 X-ALD_c.2T>A ABCD1:c.2T>A X-ALD substitution exon 1 X-ALD_c.3G>A ABCD1:c.3G>A X-ALD substitution exon 1 X-ALD_c.3G>C ABCD1:c.3G>C X-ALD substitution exon 1 X-ALD_c.30G>A ABCD1:c.30G>A X-ALD substitution exon 1 X-ALD_c.38A>C ABCD1:c.38A>C X-ALD substitution exon 1 X-ALD_c.[46A>T;706C>T] ABCD1:c.[46A>T;706C>T] X-ALD substitution exon 1 X-ALD_c.53_54insGCAC ABCD1:c.53_54insGCAC X-ALD insertion exon 1 X-ALD_c.55G>T ABCD1:c.55G>T X-ALD substitution exon 1 X-ALD_c.56delC ABCD1:c.56delC X-ALD deletion exon 1 X-ALD_c.67_83del ABCD1:c.67_83del X-ALD deletion exon 1 X-ALD_c.97_100del ABCD1:c.97_100del X-ALD deletion exon 1 X-ALD_c.102C>AT ABCD1:c.102C>AT X-ALD substitution exon 1 X-ALD_c.109C>G ABCD1:c.109C>G X-ALD substitution exon 1 X-ALD_c.110_117del ABCD1:c.110_117del X-ALD deletion exon 1 X-ALD_c.112C>T ABCD1:c.112C>T X-ALD substitution exon 1 X-ALD_c.115_31delins3 ABCD1:c.115_31delins3 X-ALD complex exon 1 X-ALD_c.119_147del ABCD1:c.119_147del X-ALD deletion exon 1 X-ALD_c.125delC ABCD1:c.125delC X-ALD deletion exon 1 X-ALD_c.125_26insC ABCD1:c.125_26insC X-ALD insertion exon 1 X-ALD_c.138_39insT ABCD1:c.138_39insT X-ALD insertion exon 1 X-ALD_c.139C>T ABCD1:c.139C>T X-ALD substitution exon 1 X-ALD_c.145_146ins4 ABCD1:c.145_146ins4 X-ALD insertion exon 1 X-ALD_c.154G>T ABCD1:c.154G>T X-ALD substitution exon 1 X-ALD_c.155_56insG ABCD1:c.155_56insG X-ALD insertion exon 1 X-ALD_c.220C>T ABCD1:c.220C>T X-ALD substitution exon 1 X-ALD_c.225_242del ABCD1:c.225_242del X-ALD deletion exon 1 X-ALD_c.232_240del ABCD1:c.232_240del X-ALD deletion exon 1 X-ALD_c.234_242del ABCD1:c.234_242del X-ALD deletion exon 1 X-ALD_c.240_41ins6 ABCD1:c.240_41ins6 X-ALD insertion exon 1 X-ALD_c.240_41ins9 ABCD1:c.240_41ins9 X-ALD insertion exon 1 X-ALD_c.243_44ins9 ABCD1:c.243_44ins9 X-ALD insertion exon 1 X-ALD_c.248delT ABCD1:c.248delT X-ALD deletion exon 1 X-ALD_c.250C>T ABCD1:c.250C>T X-ALD substitution exon 1 X-ALD_c.251C>T ABCD1:c.251C>T X-ALD substitution exon 1 X-ALD_c.253_54insC ABCD1:c.253_54insC X-ALD insertion exon 1 X-ALD_c.258C>T ABCD1:c.258C>T X-ALD substitution exon 1 X-ALD_c.264C>G ABCD1:c.264C>G X-ALD substitution exon 1 X-ALD_c.268G>A ABCD1:c.268G>A X-ALD substitution exon 1 X-ALD_c.268G>T ABCD1:c.268G>T X-ALD substitution exon 1 X-ALD_c.270_271delGA ABCD1:c.270_271delGA X-ALD deletion exon 1 X-ALD_c.274_311del ABCD1:c.274_311del X-ALD deletion exon 1 X-ALD_c.277delC ABCD1:c.277delC X-ALD deletion exon 1 X-ALD_c.287_88insCC ABCD1:c.287_88insCC X-ALD insertion exon 1 X-ALD_c.290A>C ABCD1:c.290A>C X-ALD substitution exon 1 X-ALD_c.292T>C ABCD1:c.292T>C X-ALD substitution exon 1 X-ALD_c.293C>T ABCD1:c.293C>T X-ALD substitution exon 1 X-ALD_c.293C>G ABCD1:c.293C>G X-ALD substitution exon 1 X-ALD_c.294_95insC ABCD1:c.294_95insC X-ALD insertion exon 1 X-ALD_c.296C>A ABCD1:c.296C>A X-ALD substitution exon 1 X-ALD_c.298delG ABCD1:c.298delG X-ALD deletion exon 1 X-ALD_c.301T>A ABCD1:c.301T>A X-ALD substitution exon 1 X-ALD_c.305T>A ABCD1:c.305T>A X-ALD substitution exon 1 X-ALD_c.309C>G ABCD1:c.309C>G X-ALD substitution exon 1 X-ALD_c.310C>T ABCD1:c.310C>T X-ALD substitution exon 1 X-ALD_c.311G>A ABCD1:c.311G>A X-ALD substitution exon 1 X-ALD_c.311G>T ABCD1:c.311G>T X-ALD substitution exon 1 X-ALD_c.313A>C ABCD1:c.313A>C X-ALD substitution exon 1 X-ALD_c.314C>T ABCD1:c.314C>T X-ALD substitution exon 1 X-ALD_c.319delC ABCD1:c.319delC X-ALD deletion exon 1 X-ALD_c.320T>C ABCD1:c.320T>C X-ALD substitution exon 1 X-ALD_c.322T>G ABCD1:c.322T>G X-ALD substitution exon 1 X-ALD_c.323C>A ABCD1:c.323C>A X-ALD substitution exon 1 X-ALD_c.323C>T ABCD1:c.323C>T X-ALD substitution exon 1 X-ALD_c.323C>G ABCD1:c.323C>G X-ALD substitution exon 1 X-ALD_c.337delC ABCD1:c.337delC X-ALD deletion exon 1 X-ALD_c.337C>T ABCD1:c.337C>T X-ALD substitution exon 1 X-ALD_c.338G>C ABCD1:c.338G>C X-ALD substitution exon 1 X-ALD_c.341T>C ABCD1:c.341T>C X-ALD substitution exon 1 X-ALD_c.346G>A ABCD1:c.346G>A X-ALD substitution exon 1 X-ALD_c.347G>A ABCD1:c.347G>A X-ALD substitution exon 1 X-ALD_c.352_353delCT ABCD1:c.352_353delCT X-ALD deletion exon 1 X-ALD_c.356C>A ABCD1:c.356C>A X-ALD substitution exon 1 X-ALD_c.359G>C ABCD1:c.359G>C X-ALD substitution exon 1 X-ALD_c.368T>C ABCD1:c.368T>C X-ALD substitution exon 1 X-ALD_c.371G>C ABCD1:c.371G>C X-ALD substitution exon 1 X-ALD_c.385_86insT ABCD1:c.385_86insT X-ALD insertion exon 1 X-ALD_c.387delT ABCD1:c.387delT X-ALD deletion exon 1 X-ALD_c.395G>A ABCD1:c.395G>A X-ALD substitution exon 1 X-ALD_c.396G>A ABCD1:c.396G>A X-ALD substitution exon 1 X-ALD_c.397C>T ABCD1:c.397C>T X-ALD substitution exon 1 X-ALD_c.401T>G ABCD1:c.401T>G X-ALD substitution exon 1 X-ALD_c.401_405delinsAGCATT ABCD1:c.401_405delinsAGCATT X-ALD complex exon 1 X-ALD_c.410G>A ABCD1:c.410G>A X-ALD substitution exon 1 X-ALD_c.411G>A ABCD1:c.411G>A X-ALD substitution exon 1 X-ALD_c.412_423del ABCD1:c.412_423del X-ALD deletion exon 1 X-ALD_c.412_414delCTC ABCD1:c.412_414delCTC X-ALD deletion exon 1 X-ALD_c.420C>A ABCD1:c.420C>A X-ALD substitution exon 1 X-ALD_c.421G>A ABCD1:c.421G>A X-ALD substitution exon 1 X-ALD_c.422C>T ABCD1:c.422C>T X-ALD substitution exon 1 X-ALD_c.427C>T ABCD1:c.427C>T X-ALD substitution exon 1 X-ALD_c.428C>A ABCD1:c.428C>A X-ALD substitution exon 1 X-ALD_c.428C>T ABCD1:c.428C>T X-ALD substitution exon 1 X-ALD_c.432_446delinsCCC ABCD1:c.432_446delinsCCC X-ALD complex exon 1 X-ALD_c.440T>G ABCD1:c.440T>G X-ALD substitution exon 1 X-ALD_c.442A>G ABCD1:c.442A>G X-ALD substitution exon 1 X-ALD_c.442A>T ABCD1:c.442A>T X-ALD substitution exon 1 X-ALD_c.443A>G ABCD1:c.443A>G X-ALD substitution exon 1 X-ALD_c.446G>A ABCD1:c.446G>A X-ALD substitution exon 1 X-ALD_c.454C>A ABCD1:c.454C>A X-ALD substitution exon 1 X-ALD_c.454C>T ABCD1:c.454C>T X-ALD substitution exon 1 X-ALD_c.455G>C ABCD1:c.455G>C X-ALD substitution exon 1 X-ALD_c.455G>T ABCD1:c.455G>T X-ALD substitution exon 1 X-ALD_c.461T>C ABCD1:c.461T>C X-ALD substitution exon 1 X-ALD_c.462_481del ABCD1:c.462_481del X-ALD deletion exon 1 X-ALD_c.469C>T ABCD1:c.469C>T X-ALD substitution exon 1 X-ALD_c.473T>C ABCD1:c.473T>C X-ALD substitution exon 1 X-ALD_c.476_499del ABCD1:c.476_499del X-ALD deletion exon 1 X-ALD_c.479T>C ABCD1:c.479T>C X-ALD substitution exon 1 X-ALD_c.481T>C ABCD1:c.481T>C X-ALD substitution exon 1 X-ALD_c.482C>A ABCD1:c.482C>A X-ALD substitution exon 1 X-ALD_c.488G>A ABCD1:c.488G>A X-ALD substitution exon 1 X-ALD_c.488G>T ABCD1:c.488G>T X-ALD substitution exon 1 X-ALD_c.488G>C ABCD1:c.488G>C X-ALD substitution exon 1 X-ALD_c.494delG ABCD1:c.494delG X-ALD deletion exon 1 X-ALD_c.496_497insG ABCD1:c.496_497insG X-ALD insertion exon 1 X-ALD_c.510delC ABCD1:c.510delC X-ALD deletion exon 1 X-ALD_c.512A>C ABCD1:c.512A>C X-ALD substitution exon 1 X-ALD_c.514delC ABCD1:c.514delC X-ALD deletion exon 1 X-ALD_c.515_16insC ABCD1:c.515_16insC X-ALD insertion exon 1 X-ALD_c.518T>C ABCD1:c.518T>C X-ALD substitution exon 1 X-ALD_c.520T>C ABCD1:c.520T>C X-ALD substitution exon 1 X-ALD_c.520T>G ABCD1:c.520T>G X-ALD substitution exon 1 X-ALD_c.521A>G ABCD1:c.521A>G X-ALD substitution exon 1 X-ALD_c.521A>C ABCD1:c.521A>C X-ALD substitution exon 1 X-ALD_c.522_524delCTT ABCD1:c.522_524delCTT X-ALD deletion exon 1 X-ALD_c.529C>T ABCD1:c.529C>T X-ALD substitution exon 1 X-ALD_c.540_41insT ABCD1:c.540_41insT X-ALD insertion exon 1 X-ALD_c.541_542delTA ABCD1:c.541_542delTA X-ALD deletion exon 1 X-ALD_c.542A>G ABCD1:c.542A>G X-ALD substitution exon 1 X-ALD_c.543C>A ABCD1:c.543C>A X-ALD substitution exon 1 X-ALD_c.544_45insCTACTACC ABCD1:c.544_45insCTACTACC X-ALD insertion exon 1 X-ALD_c.545G>C ABCD1:c.545G>C X-ALD substitution exon 1 X-ALD_c.548T>G ABCD1:c.548T>G X-ALD substitution exon 1 X-ALD_c.565C>T ABCD1:c.565C>T X-ALD substitution exon 1 X-ALD_c.566G>A ABCD1:c.566G>A X-ALD substitution exon 1 X-ALD_c.569T>C ABCD1:c.569T>C X-ALD substitution exon 1 X-ALD_c.580G>A ABCD1:c.580G>A X-ALD substitution exon 1 X-ALD_c.580G>C ABCD1:c.580G>C X-ALD substitution exon 1 X-ALD_c.581_589del ABCD1:c.581_589del X-ALD deletion exon 1 X-ALD_c.583C>T ABCD1:c.583C>T X-ALD substitution exon 1 X-ALD_c.588_589delTC ABCD1:c.588_589delTC X-ALD deletion exon 1 X-ALD_c.591_92insT ABCD1:c.591_92insT X-ALD insertion exon 1 X-ALD_c.593C>A ABCD1:c.593C>A X-ALD substitution exon 1 X-ALD_c.593C>G ABCD1:c.593C>G X-ALD substitution exon 1 X-ALD_c.593C>T ABCD1:c.593C>T X-ALD substitution exon 1 X-ALD_c.595G>A ABCD1:c.595G>A X-ALD substitution exon 1 X-ALD_c.598G>A ABCD1:c.598G>A X-ALD substitution exon 1 X-ALD_c.599A>T ABCD1:c.599A>T X-ALD substitution exon 1 X-ALD_c.614C>A ABCD1:c.614C>A X-ALD substitution exon 1 X-ALD_c.619_627del ABCD1:c.619_627del X-ALD deletion exon 1 X-ALD_c.622_23insCGGCCTCTG ABCD1:c.622_23insCGGCCTCTG X-ALD insertion exon 1 X-ALD_c.618_630del ABCD1:c.618_630del X-ALD deletion exon 1 X-ALD_c.621_900+384del664 ABCD1:c.621_900+384del664 X-ALD deletion exon 1 X-ALD_c.622_623insG ABCD1:c.622_623insG X-ALD insertion exon 1 X-ALD_c.632T>C ABCD1:c.632T>C X-ALD substitution exon 1 X-ALD_c.636C>G ABCD1:c.636C>G X-ALD substitution exon 1 X-ALD_c.638C>G ABCD1:c.638C>G X-ALD substitution exon 1 X-ALD_c.640A>G ABCD1:c.640A>G X-ALD substitution exon 1 X-ALD_c.643delC ABCD1:c.643delC X-ALD deletion exon 1 X-ALD_c.649A>G ABCD1:c.649A>G X-ALD substitution exon 1 X-ALD_c.652C>A ABCD1:c.652C>A X-ALD substitution exon 1 X-ALD_c.659T>C ABCD1:c.659T>C X-ALD substitution exon 1 X-ALD_c.662A>G ABCD1:c.662A>G X-ALD substitution exon 1 X-ALD_c.668C>A ABCD1:c.668C>A X-ALD substitution exon 1 X-ALD_c.671T>G ABCD1:c.671T>G X-ALD substitution exon 1 X-ALD_c.677delC ABCD1:c.677delC X-ALD deletion exon 1 X-ALD_c.684_85insTACAC ABCD1:c.684_85insTACAC X-ALD insertion exon 1 X-ALD_c.686T>C ABCD1:c.686T>C X-ALD substitution exon 1 X-ALD_c.692_694delGGGinsC ABCD1:c.692_694delGGGinsC X-ALD complex exon 1 X-ALD_c.693_694delGG ABCD1:c.693_694delGG X-ALD deletion exon 1 X-ALD_c.696G>T ABCD1:c.696G>T X-ALD substitution exon 1 X-ALD_c.695_96insG ABCD1:c.695_96insG X-ALD insertion exon 1 X-ALD_c.697_900+25del229 ABCD1:c.697_900+25del229 X-ALD deletion exon 1 X-ALD_c.706_709delCGTG ABCD1:c.706_709delCGTG X-ALD deletion exon 1 X-ALD_c.[707G>A;1534G>A] ABCD1:c.[707G>A;1534G>A] X-ALD substitution exon 1 X-ALD_c.724_728delTGGCC ABCD1:c.724_728delTGGCC X-ALD deletion exon 1 X-ALD_c.725G>A ABCD1:c.725G>A X-ALD substitution exon 1 X-ALD_c.726G>A ABCD1:c.726G>A X-ALD substitution exon 1 X-ALD_c.730_731delinsGAGA ABCD1:c.730_731delinsGAGA X-ALD complex exon 1 X-ALD_c.734C>A ABCD1:c.734C>A X-ALD substitution exon 1 X-ALD_c.739delG ABCD1:c.739delG X-ALD deletion exon 1 X-ALD_c.739_40insGCCATCG ABCD1:c.739_40insGCCATCG X-ALD insertion exon 1 X-ALD_c.742_745delGGCC ABCD1:c.742_745delGGCC X-ALD deletion exon 1 X-ALD_c.748_759del ABCD1:c.748_759del X-ALD deletion exon 1 X-ALD_c.749_751delTGG ABCD1:c.749_751delTGG X-ALD deletion exon 1 X-ALD_c.757_65delins4 ABCD1:c.757_65delins4 X-ALD complex exon 1 X-ALD_c.[757C>G;1817C>T] ABCD1:c.[757C>G;1817C>T] X-ALD substitution exon 1 X-ALD_c.760A>G ABCD1:c.760A>G X-ALD substitution exon 1 X-ALD_c.760A>C ABCD1:c.760A>C X-ALD substitution exon 1 X-ALD_c.761delC ABCD1:c.761delC X-ALD deletion exon 1 X-ALD_c.761C>A ABCD1:c.761C>A X-ALD substitution exon 1 X-ALD_c.761C>T ABCD1:c.761C>T X-ALD substitution exon 1 X-ALD_c.773T>C ABCD1:c.773T>C X-ALD substitution exon 1 X-ALD_c.775C>T ABCD1:c.775C>T X-ALD substitution exon 1 X-ALD_c.784_785delTC ABCD1:c.784_785delTC X-ALD deletion exon 1 X-ALD_c.785_791del ABCD1:c.785_791del X-ALD deletion exon 1 X-ALD_c.785C>G ABCD1:c.785C>G X-ALD substitution exon 1 X-ALD_c.787C>T ABCD1:c.787C>T X-ALD substitution exon 1 X-ALD_c.788C>T ABCD1:c.788C>T X-ALD substitution exon 1 X-ALD_c.790A>T ABCD1:c.790A>T X-ALD substitution exon 1 X-ALD_c.796G>A ABCD1:c.796G>A X-ALD substitution exon 1 X-ALD_c.797G>A ABCD1:c.797G>A X-ALD substitution exon 1 X-ALD_c.799G>A ABCD1:c.799G>A X-ALD substitution exon 1 X-ALD_c.799G>T ABCD1:c.799G>T X-ALD substitution exon 1 X-ALD_c.799delG ABCD1:c.799delG X-ALD deletion exon 1 X-ALD_c.811G>A ABCD1:c.811G>A X-ALD substitution exon 1 X-ALD_c.815_817delAGG ABCD1:c.815_817delAGG X-ALD deletion exon 1 X-ALD_c.818C>A ABCD1:c.818C>A X-ALD substitution exon 1 X-ALD_c.[820C>T;838C>T] ABCD1:c.[820C>T;838C>T] X-ALD substitution exon 1 X-ALD_c.826A>G ABCD1:c.826A>G X-ALD substitution exon 1 X-ALD_c.828_29insAAT ABCD1:c.828_29insAAT X-ALD insertion exon 1 X-ALD_c.829G>A ABCD1:c.829G>A X-ALD substitution exon 1 X-ALD_c.829G>C ABCD1:c.829G>C X-ALD substitution exon 1 X-ALD_c.829G>T ABCD1:c.829G>T X-ALD substitution exon 1 X-ALD_c.830G>A ABCD1:c.830G>A X-ALD substitution exon 1 X-ALD_c.832G>T ABCD1:c.832G>T X-ALD substitution exon 1 X-ALD_c.836T>C ABCD1:c.836T>C X-ALD substitution exon 1 X-ALD_c.838C>T ABCD1:c.838C>T X-ALD substitution exon 1 X-ALD_c.839G>T ABCD1:c.839G>T X-ALD substitution exon 1 X-ALD_c.847C>T ABCD1:c.847C>T X-ALD substitution exon 1 X-ALD_c.847C>G ABCD1:c.847C>G X-ALD substitution exon 1 X-ALD_c.848A>G ABCD1:c.848A>G X-ALD substitution exon 1 X-ALD_c.851C>A ABCD1:c.851C>A X-ALD substitution exon 1 X-ALD_c.852_53insACTC ABCD1:c.852_53insACTC X-ALD insertion exon 1 X-ALD_c.852_53insG ABCD1:c.852_53insG X-ALD insertion exon 1 X-ALD_c.854G>C ABCD1:c.854G>C X-ALD substitution exon 1 X-ALD_c.869C>G ABCD1:c.869C>G X-ALD substitution exon 1 X-ALD_c.869C>A ABCD1:c.869C>A X-ALD substitution exon 1 X-ALD_c.871_873delGAG ABCD1:c.871_873delGAG X-ALD deletion exon 1 X-ALD_c.871G>A ABCD1:c.871G>A X-ALD substitution exon 1 X-ALD_c.873G>C ABCD1:c.873G>C X-ALD substitution exon 1 X-ALD_c.880G>A ABCD1:c.880G>A X-ALD substitution exon 1 X-ALD_c.881C>T ABCD1:c.881C>T X-ALD substitution exon 1 X-ALD_c.886_899del ABCD1:c.886_899del X-ALD deletion exon 1 X-ALD_c.886T>C ABCD1:c.886T>C X-ALD substitution exon 1 X-ALD_c.887A>G ABCD1:c.887A>G X-ALD substitution exon 1 X-ALD_c.887A>C ABCD1:c.887A>C X-ALD substitution exon 1 X-ALD_c.888T>G ABCD1:c.888T>G X-ALD substitution exon 1 X-ALD_c.892_896delinsGTCA ABCD1:c.892_896delinsGTCA X-ALD complex exon 1 X-ALD_c.893_894delinsT ABCD1:c.893_894delinsT X-ALD complex exon 1 X-ALD_c.893_894insG ABCD1:c.893_894insG X-ALD insertion exon 1 X-ALD_c.892G>A ABCD1:c.892G>A X-ALD substitution exon 1 X-ALD_c.893G>A ABCD1:c.893G>A X-ALD substitution exon 1 X-ALD_c.893G>T ABCD1:c.893G>T X-ALD substitution exon 1 X-ALD_c.892_93insGC ABCD1:c.892_93insGC X-ALD insertion exon 1 X-ALD_c.900G>A ABCD1:c.900G>A X-ALD substitution exon 1 X-ALD_c.900+1G>T ABCD1:c.900+1G>T X-ALD substitution intron 1 X-ALD_c.901-10C>T ABCD1:c.901-10C>T X-ALD substitution intron 1 X-ALD_c.901-5C>A ABCD1:c.901-5C>A X-ALD substitution intron 1 X-ALD_c.901-2A>C ABCD1:c.901-2A>C X-ALD substitution intron 1 X-ALD_c.901-1G>A ABCD1:c.901-1G>A X-ALD substitution intron 1 X-ALD_c.904G>A ABCD1:c.904G>A X-ALD substitution exon 1 X-ALD_c.904G>C ABCD1:c.904G>C X-ALD substitution exon 1 X-ALD_c.905A>G ABCD1:c.905A>G X-ALD substitution exon 1 X-ALD_c.910delG ABCD1:c.910delG X-ALD deletion exon 1 X-ALD_c.919C>T ABCD1:c.919C>T X-ALD substitution exon 1 X-ALD_c.931C>T ABCD1:c.931C>T X-ALD substitution exon 1 X-ALD_c.933_34insA ABCD1:c.933_34insA X-ALD insertion exon 1 X-ALD_c.937delC ABCD1:c.937delC X-ALD deletion exon 1 X-ALD_c.938T>C ABCD1:c.938T>C X-ALD substitution exon 1 X-ALD_c.940G>C ABCD1:c.940G>C X-ALD substitution exon 1 X-ALD_c.943delT ABCD1:c.943delT X-ALD deletion exon 1 X-ALD_c.944C>A ABCD1:c.944C>A X-ALD substitution exon 1 X-ALD_c.965T>C ABCD1:c.965T>C X-ALD substitution exon 1 X-ALD_c.974T>C ABCD1:c.974T>C X-ALD substitution exon 1 X-ALD_c.977G>A ABCD1:c.977G>A X-ALD substitution exon 1 X-ALD_c.979_80insT ABCD1:c.979_80insT X-ALD insertion exon 1 X-ALD_c.981T>A ABCD1:c.981T>A X-ALD substitution exon 1 X-ALD_c.986T>G ABCD1:c.986T>G X-ALD substitution exon 1 X-ALD_c.988_1005del ABCD1:c.988_1005del X-ALD deletion exon 1 X-ALD_c.991G>A ABCD1:c.991G>A X-ALD substitution exon 1 X-ALD_c.994C>T ABCD1:c.994C>T X-ALD substitution exon 1 X-ALD_c.1001T>C ABCD1:c.1001T>C X-ALD substitution exon 1 X-ALD_c.1004T>G ABCD1:c.1004T>G X-ALD substitution exon 1 X-ALD_c.1007A>T ABCD1:c.1007A>T X-ALD substitution exon 1 X-ALD_c.1008G>T ABCD1:c.1008G>T X-ALD substitution exon 1 X-ALD_c.1009T>C ABCD1:c.1009T>C X-ALD substitution exon 1 X-ALD_c.1011T>A ABCD1:c.1011T>A X-ALD substitution exon 1 X-ALD_c.1016G>A ABCD1:c.1016G>A X-ALD substitution exon 1 X-ALD_c.1024T>C ABCD1:c.1024T>C X-ALD substitution exon 1 X-ALD_c.1027G>A ABCD1:c.1027G>A X-ALD substitution exon 1 X-ALD_c.1028G>A ABCD1:c.1028G>A X-ALD substitution exon 1 X-ALD_c.1028G>T ABCD1:c.1028G>T X-ALD substitution exon 1 X-ALD_c.1031T>C ABCD1:c.1031T>C X-ALD substitution exon 1 X-ALD_c.1072T>C ABCD1:c.1072T>C X-ALD substitution exon 1 X-ALD_c.1073C>G ABCD1:c.1073C>G X-ALD substitution exon 1 X-ALD_c.1076_1077delAG ABCD1:c.1076_1077delAG X-ALD deletion exon 1 X-ALD_c.1079C>G ABCD1:c.1079C>G X-ALD substitution exon 1 X-ALD_c.1081+1G>T ABCD1:c.1081+1G>T X-ALD substitution intron 1 X-ALD_c.1082-3C>G ABCD1:c.1082-3C>G X-ALD substitution intron 1 X-ALD_c.1092delC ABCD1:c.1092delC X-ALD deletion exon 1 X-ALD_c.1092_93insA ABCD1:c.1092_93insA X-ALD insertion exon 1 X-ALD_c.1114A>T ABCD1:c.1114A>T X-ALD substitution exon 1 X-ALD_c.1117_1119delAAG ABCD1:c.1117_1119delAAG X-ALD deletion exon 1 X-ALD_c.1135_36insC ABCD1:c.1135_36insC X-ALD insertion exon 1 X-ALD_c.1137_38insC ABCD1:c.1137_38insC X-ALD insertion exon 1 X-ALD_c.1155delC ABCD1:c.1155delC X-ALD deletion exon 1 X-ALD_c.1159delA ABCD1:c.1159delA X-ALD deletion exon 1 X-ALD_c.1163_64insG ABCD1:c.1163_64insG X-ALD insertion exon 1 X-ALD_c.1165C>G ABCD1:c.1165C>G X-ALD substitution exon 1 X-ALD_c.1165C>T ABCD1:c.1165C>T X-ALD substitution exon 1 X-ALD_c.1166G>A ABCD1:c.1166G>A X-ALD substitution exon 1 X-ALD_c.1171_1180del ABCD1:c.1171_1180del X-ALD deletion exon 1 X-ALD_c.1172T>C ABCD1:c.1172T>C X-ALD substitution exon 1 X-ALD_c.1174C>G ABCD1:c.1174C>G X-ALD substitution exon 1 X-ALD_c.1186G>A ABCD1:c.1186G>A X-ALD substitution exon 1 X-ALD_c.1201C>T ABCD1:c.1201C>T X-ALD substitution exon 1 X-ALD_c.1202G>A ABCD1:c.1202G>A X-ALD substitution exon 1 X-ALD_c.1210T>C ABCD1:c.1210T>C X-ALD substitution exon 1 X-ALD_c.1212_1214delGTC ABCD1:c.1212_1214delGTC X-ALD deletion exon 1 X-ALD_c.1219A>T ABCD1:c.1219A>T X-ALD substitution exon 1 X-ALD_c.1224G>A ABCD1:c.1224G>A X-ALD substitution exon 1 X-ALD_c.[1224+1GT>TG;1165C>T] ABCD1:c.[1224+1GT>TG;1165C>T] X-ALD substitution intron 1 X-ALD_c.1224+2C>T ABCD1:c.1224+2C>T X-ALD substitution intron 1 X-ALD_c.1225-7_1239del22 ABCD1:c.1225-7_1239del22 X-ALD deletion intron 1 X-ALD_c.1225-2A>C ABCD1:c.1225-2A>C X-ALD substitution intron 1 X-ALD_c.1237G>A ABCD1:c.1237G>A X-ALD substitution exon 1 X-ALD_c.1237G>C ABCD1:c.1237G>C X-ALD substitution exon 1 X-ALD_c.1244A>G ABCD1:c.1244A>G X-ALD substitution exon 1 X-ALD_c.1248delA ABCD1:c.1248delA X-ALD deletion exon 1 X-ALD_c.1250delC ABCD1:c.1250delC X-ALD deletion exon 1 X-ALD_c.1252C>T ABCD1:c.1252C>T X-ALD substitution exon 1 X-ALD_c.1263delG ABCD1:c.1263delG X-ALD deletion exon 1 X-ALD_c.1270delC ABCD1:c.1270delC X-ALD deletion exon 1 X-ALD_c.1279_1281delGAA ABCD1:c.1279_1281delGAA X-ALD deletion exon 1 X-ALD_c.1288C>T ABCD1:c.1288C>T X-ALD substitution exon 1 X-ALD_c.1315G>T ABCD1:c.1315G>T X-ALD substitution exon 1 X-ALD_c.1322_23insA ABCD1:c.1322_23insA X-ALD insertion exon 1 X-ALD_c.1330C>T ABCD1:c.1330C>T X-ALD substitution exon 1 X-ALD_c.1359delT ABCD1:c.1359delT X-ALD deletion exon 1 X-ALD_c.1372G>T ABCD1:c.1372G>T X-ALD substitution exon 1 X-ALD_c.1390C>T ABCD1:c.1390C>T X-ALD substitution exon 1 X-ALD_c.1394-2A>G ABCD1:c.1394-2A>G X-ALD substitution intron 1 X-ALD_c.1396C>T ABCD1:c.1396C>T X-ALD substitution exon 1 X-ALD_c.[1399G>A;1850G>A] ABCD1:c.[1399G>A;1850G>A] X-ALD substitution exon 1 X-ALD_c.1411_12insA ABCD1:c.1411_12insA X-ALD insertion exon 1 X-ALD_c.1412_1413delAA ABCD1:c.1412_1413delAA X-ALD deletion exon 1 X-ALD_c.1414_15insC ABCD1:c.1414_15insC X-ALD insertion exon 1 X-ALD_c.1415_1416delAG ABCD1:c.1415_1416delAG X-ALD deletion exon 1 X-ALD_c.1416_1417delGG ABCD1:c.1416_1417delGG X-ALD deletion exon 1 X-ALD_c.1420delA ABCD1:c.1420delA X-ALD deletion exon 1 X-ALD_c.1422_1426delCATCT ABCD1:c.1422_1426delCATCT X-ALD deletion exon 1 X-ALD_c.1421T>C ABCD1:c.1421T>C X-ALD substitution exon 1 X-ALD_c.1429G>T ABCD1:c.1429G>T X-ALD substitution exon 1 X-ALD_c.1430delA ABCD1:c.1430delA X-ALD deletion exon 1 X-ALD_c.1436delT ABCD1:c.1436delT X-ALD deletion exon 1 X-ALD_c.[1438C>A;901-5c>a] ABCD1:c.[1438C>A;901-5c>a] X-ALD substitution exon 1 X-ALD_c.1451C>G ABCD1:c.1451C>G X-ALD substitution exon 1 X-ALD_c.1462_63insTGG ABCD1:c.1462_63insTGG X-ALD insertion exon 1 X-ALD_c.1469_1471delTGG ABCD1:c.1469_1471delTGG X-ALD deletion exon 1 X-ALD_c.1470_71insGTG ABCD1:c.1470_71insGTG X-ALD insertion exon 1 X-ALD_c.1478T>C ABCD1:c.1478T>C X-ALD substitution exon 1 X-ALD_c.1481delA ABCD1:c.1481delA X-ALD deletion exon 1 X-ALD_c.1488+1G>A ABCD1:c.1488+1G>A X-ALD substitution intron 1 X-ALD_c.1499G>T ABCD1:c.1499G>T X-ALD substitution exon 1 X-ALD_c.1501A>C ABCD1:c.1501A>C X-ALD substitution exon 1 X-ALD_c.1505_06insC ABCD1:c.1505_06insC X-ALD insertion exon 1 X-ALD_c.1508_09insC ABCD1:c.1508_09insC X-ALD insertion exon 1 X-ALD_c.1508T>C ABCD1:c.1508T>C X-ALD substitution exon 1 X-ALD_c.1514T>C ABCD1:c.1514T>C X-ALD substitution exon 1 X-ALD_c.1515C>G ABCD1:c.1515C>G X-ALD substitution exon 1 X-ALD_c.1519G>A ABCD1:c.1519G>A X-ALD substitution exon 1 X-ALD_c.1520G>A ABCD1:c.1520G>A X-ALD substitution exon 1 X-ALD_c.1520G>T ABCD1:c.1520G>T X-ALD substitution exon 1 X-ALD_c.1523C>T ABCD1:c.1523C>T X-ALD substitution exon 1 X-ALD_c.1526A>T ABCD1:c.1526A>T X-ALD substitution exon 1 X-ALD_c.1528G>A ABCD1:c.1528G>A X-ALD substitution exon 1 X-ALD_c.1529G>A ABCD1:c.1529G>A X-ALD substitution exon 1 X-ALD_c.1531T>C ABCD1:c.1531T>C X-ALD substitution exon 1 X-ALD_c.1532G>A ABCD1:c.1532G>A X-ALD substitution exon 1 X-ALD_c.1533C>A ABCD1:c.1533C>A X-ALD substitution exon 1 X-ALD_c.1534G>T ABCD1:c.1534G>T X-ALD substitution exon 1 X-ALD_c.1534G>A ABCD1:c.1534G>A X-ALD substitution exon 1 X-ALD_c.1537A>C ABCD1:c.1537A>C X-ALD substitution exon 1 X-ALD_c.1538A>G ABCD1:c.1538A>G X-ALD substitution exon 1 X-ALD_c.1540A>C ABCD1:c.1540A>C X-ALD substitution exon 1 X-ALD_c.1540A>G ABCD1:c.1540A>G X-ALD substitution exon 1 X-ALD_c.1541G>A ABCD1:c.1541G>A X-ALD substitution exon 1 X-ALD_c.1544C>T ABCD1:c.1544C>T X-ALD substitution exon 1 X-ALD_c.1547T>C ABCD1:c.1547T>C X-ALD substitution exon 1 X-ALD_c.1548G>A ABCD1:c.1548G>A X-ALD substitution exon 1 X-ALD_c.1551delC ABCD1:c.1551delC X-ALD deletion exon 1 X-ALD_c.1552C>G ABCD1:c.1552C>G X-ALD substitution exon 1 X-ALD_c.1552C>T ABCD1:c.1552C>T X-ALD substitution exon 1 X-ALD_c.1553G>A ABCD1:c.1553G>A X-ALD substitution exon 1 X-ALD_c.1559T>A ABCD1:c.1559T>A X-ALD substitution exon 1 X-ALD_c.1564G>A ABCD1:c.1564G>A X-ALD substitution exon 1 X-ALD_c.1567C>T ABCD1:c.1567C>T X-ALD substitution exon 1 X-ALD_c.1568T>C ABCD1:c.1568T>C X-ALD substitution exon 1 X-ALD_c.1570T>C ABCD1:c.1570T>C X-ALD substitution exon 1 X-ALD_c.1571G>A ABCD1:c.1571G>A X-ALD substitution exon 1 X-ALD_c.1573C>G ABCD1:c.1573C>G X-ALD substitution exon 1 X-ALD_c.1573C>T ABCD1:c.1573C>T X-ALD substitution exon 1 X-ALD_c.1585_1587delGGT ABCD1:c.1585_1587delGGT X-ALD deletion exon 1 X-ALD_c.1585delG ABCD1:c.1585delG X-ALD deletion exon 1 X-ALD_c.1586_1590delGTGTG ABCD1:c.1586_1590delGTGTG X-ALD deletion exon 1 X-ALD_c.1585G>A ABCD1:c.1585G>A X-ALD substitution exon 1 X-ALD_c.1586G>A ABCD1:c.1586G>A X-ALD substitution exon 1 X-ALD_c.1592_93insT ABCD1:c.1592_93insT X-ALD insertion exon 1 X-ALD_c.1597A>G ABCD1:c.1597A>G X-ALD substitution exon 1 X-ALD_c.1599G>T ABCD1:c.1599G>T X-ALD substitution exon 1 X-ALD_c.1600C>T ABCD1:c.1600C>T X-ALD substitution exon 1 X-ALD_c.1601C>G ABCD1:c.1601C>G X-ALD substitution exon 1 X-ALD_c.1601C>T ABCD1:c.1601C>T X-ALD substitution exon 1 X-ALD_c.1598_99insA ABCD1:c.1598_99insA X-ALD insertion exon 1 X-ALD_c.1599delG ABCD1:c.1599delG X-ALD deletion exon 1 X-ALD_c.1603_1604delCC ABCD1:c.1603_1604delCC X-ALD deletion exon 1 X-ALD_c.1603_1991del ABCD1:c.1603_1991del X-ALD deletion exon 1 X-ALD_c.1607C>A ABCD1:c.1607C>A X-ALD substitution exon 1 X-ALD_c.1609C>T ABCD1:c.1609C>T X-ALD substitution exon 1 X-ALD_c.1619T>C ABCD1:c.1619T>C X-ALD substitution exon 1 X-ALD_c.1619T>G ABCD1:c.1619T>G X-ALD substitution exon 1 X-ALD_c.1624_1626delATC ABCD1:c.1624_1626delATC X-ALD deletion exon 1 X-ALD_c.1628delC ABCD1:c.1628delC X-ALD deletion exon 1 X-ALD_c.1628C>T ABCD1:c.1628C>T X-ALD substitution exon 1 X-ALD_c.1630C>A ABCD1:c.1630C>A X-ALD substitution exon 1 X-ALD_c.1631A>G ABCD1:c.1631A>G X-ALD substitution exon 1 X-ALD_c.1628_34duplication ABCD1:c.1628_34duplication X-ALD duplication exon 1 X-ALD_c.1633A>T ABCD1:c.1633A>T X-ALD substitution exon 1 X-ALD_c.1634+1G>A ABCD1:c.1634+1G>A X-ALD substitution intron 1 X-ALD_c.1634+1G>C ABCD1:c.1634+1G>C X-ALD substitution intron 1 X-ALD_c.1635-2A>G ABCD1:c.1635-2A>G X-ALD substitution intron 1 X-ALD_c.1654T>C ABCD1:c.1654T>C X-ALD substitution exon 1 X-ALD_c.1657C>G ABCD1:c.1657C>G X-ALD substitution exon 1 X-ALD_c.1661G>A ABCD1:c.1661G>A X-ALD substitution exon 1 X-ALD_c.1663G>A ABCD1:c.1663G>A X-ALD substitution exon 1 X-ALD_c.1666C>T ABCD1:c.1666C>T X-ALD substitution exon 1 X-ALD_c.1667A>G ABCD1:c.1667A>G X-ALD substitution exon 1 X-ALD_c.1670_1671delTG ABCD1:c.1670_1671delTG X-ALD deletion exon 1 X-ALD_c.1673T>C ABCD1:c.1673T>C X-ALD substitution exon 1 X-ALD_c.1676A>G ABCD1:c.1676A>G X-ALD substitution exon 1 X-ALD_c.1678C>T ABCD1:c.1678C>T X-ALD substitution exon 1 X-ALD_c.1679C>T ABCD1:c.1679C>T X-ALD substitution exon 1 X-ALD_c.1679C>G ABCD1:c.1679C>G X-ALD substitution exon 1 X-ALD_c.1682A>T ABCD1:c.1682A>T X-ALD substitution exon 1 X-ALD_c.1697T>A ABCD1:c.1697T>A X-ALD substitution exon 1 X-ALD_c.1697T>C ABCD1:c.1697T>C X-ALD substitution exon 1 X-ALD_c.1699C>T ABCD1:c.1699C>T X-ALD substitution exon 1 X-ALD_c.1714_1725del ABCD1:c.1714_1725del X-ALD deletion exon 1 X-ALD_c.1715C>A ABCD1:c.1715C>A X-ALD substitution exon 1 X-ALD_c.1717delG ABCD1:c.1717delG X-ALD deletion exon 1 X-ALD_c.1720C>T ABCD1:c.1720C>T X-ALD substitution exon 1 X-ALD_c.1727T>C ABCD1:c.1727T>C X-ALD substitution exon 1 X-ALD_c.1746delC ABCD1:c.1746delC X-ALD deletion exon 1 X-ALD_c.1748T>G ABCD1:c.1748T>G X-ALD substitution exon 1 X-ALD_c.1754T>C ABCD1:c.1754T>C X-ALD substitution exon 1 X-ALD_c.1755delG ABCD1:c.1755delG X-ALD deletion exon 1 X-ALD_c.1759_1770del ABCD1:c.1759_1770del X-ALD deletion exon 1 X-ALD_c.1765delC ABCD1:c.1765delC X-ALD deletion exon 1 X-ALD_c.1768C>T ABCD1:c.1768C>T X-ALD substitution exon 1 X-ALD_c.1771delC ABCD1:c.1771delC X-ALD deletion exon 1 X-ALD_c.1771C>T ABCD1:c.1771C>T X-ALD substitution exon 1 X-ALD_c.1772G>C ABCD1:c.1772G>C X-ALD substitution exon 1 X-ALD_c.1772G>A ABCD1:c.1772G>A X-ALD substitution exon 1 X-ALD_c.1780G>C ABCD1:c.1780G>C X-ALD substitution exon 1 X-ALD_c.1780+1G>A ABCD1:c.1780+1G>A X-ALD substitution intron 1 X-ALD_c.1780+2T>G ABCD1:c.1780+2T>G X-ALD substitution intron 1 X-ALD_c.1781-2A>G ABCD1:c.1781-2A>G X-ALD substitution intron 1 X-ALD_c.1781-1G>A ABCD1:c.1781-1G>A X-ALD substitution intron 1 X-ALD_c.1781-1G>T ABCD1:c.1781-1G>T X-ALD substitution intron 1 X-ALD_c.1784G>A ABCD1:c.1784G>A X-ALD substitution exon 1 X-ALD_c.1785G>A ABCD1:c.1785G>A X-ALD substitution exon 1 X-ALD_c.1790C>G ABCD1:c.1790C>G X-ALD substitution exon 1 X-ALD_c.1791_1792delTA ABCD1:c.1791_1792delTA X-ALD deletion exon 1 X-ALD_c.1802G>A ABCD1:c.1802G>A X-ALD substitution exon 1 X-ALD_c.1803G>A ABCD1:c.1803G>A X-ALD substitution exon 1 X-ALD_c.1804A>T ABCD1:c.1804A>T X-ALD substitution exon 1 X-ALD_c.1814T>A ABCD1:c.1814T>A X-ALD substitution exon 1 X-ALD_c.1814T>C ABCD1:c.1814T>C X-ALD substitution exon 1 X-ALD_c.1816T>C ABCD1:c.1816T>C X-ALD substitution exon 1 X-ALD_c.1817C>T ABCD1:c.1817C>T X-ALD substitution exon 1 X-ALD_c.1820delG ABCD1:c.1820delG X-ALD deletion exon 1 X-ALD_c.1820G>A ABCD1:c.1820G>A X-ALD substitution exon 1 X-ALD_c.1822G>A ABCD1:c.1822G>A X-ALD substitution exon 1 X-ALD_c.1823G>A ABCD1:c.1823G>A X-ALD substitution exon 1 X-ALD_c.1825G>A ABCD1:c.1825G>A X-ALD substitution exon 1 X-ALD_c.1826A>G ABCD1:c.1826A>G X-ALD substitution exon 1 X-ALD_c.1833G>C ABCD1:c.1833G>C X-ALD substitution exon 1 X-ALD_c.1838T>A ABCD1:c.1838T>A X-ALD substitution exon 1 X-ALD_c.1846G>A ABCD1:c.1846G>A X-ALD substitution exon 1 X-ALD_c.1847C>A ABCD1:c.1847C>A X-ALD substitution exon 1 X-ALD_c.1847C>T ABCD1:c.1847C>T X-ALD substitution exon 1 X-ALD_c.1849delC ABCD1:c.1849delC X-ALD deletion exon 1 X-ALD_c.1849C>T ABCD1:c.1849C>T X-ALD substitution exon 1 X-ALD_c.1849C>G ABCD1:c.1849C>G X-ALD substitution exon 1 X-ALD_c.1849C>A ABCD1:c.1849C>A X-ALD substitution exon 1 X-ALD_c.1850G>A ABCD1:c.1850G>A X-ALD substitution exon 1 X-ALD_c.1850G>T ABCD1:c.1850G>T X-ALD substitution exon 1 X-ALD_c.1859delA ABCD1:c.1859delA X-ALD deletion exon 1 X-ALD_c.1859A>G ABCD1:c.1859A>G X-ALD substitution exon 1 X-ALD_c.1865+1G>A ABCD1:c.1865+1G>A X-ALD substitution intron 1 X-ALD_c.1865+1G>T ABCD1:c.1865+1G>T X-ALD substitution intron 1 X-ALD_c.1866-15g>a ABCD1:c.1866-15g>a X-ALD substitution intron 1 X-ALD_c.1866-10G>A ABCD1:c.1866-10G>A X-ALD substitution intron 1 X-ALD_c.1866-2A>T ABCD1:c.1866-2A>T X-ALD substitution intron 1 X-ALD_c.1876G>A ABCD1:c.1876G>A X-ALD substitution exon 1 X-ALD_c.1877C>A ABCD1:c.1877C>A X-ALD substitution exon 1 X-ALD_c.1883T>C ABCD1:c.1883T>C X-ALD substitution exon 1 X-ALD_c.1885G>C ABCD1:c.1885G>C X-ALD substitution exon 1 X-ALD_c.1888G>A ABCD1:c.1888G>A X-ALD substitution exon 1 X-ALD_c.1889A>G ABCD1:c.1889A>G X-ALD substitution exon 1 X-ALD_c.1891T>C ABCD1:c.1891T>C X-ALD substitution exon 1 X-ALD_c.1892G>A ABCD1:c.1892G>A X-ALD substitution exon 1 X-ALD_c.1893C>G ABCD1:c.1893C>G X-ALD substitution exon 1 X-ALD_c.1894A>C ABCD1:c.1894A>C X-ALD substitution exon 1 X-ALD_c.1895C>T ABCD1:c.1895C>T X-ALD substitution exon 1 X-ALD_c.1899delC ABCD1:c.1899delC X-ALD deletion exon 1 X-ALD_c.1898G>T ABCD1:c.1898G>T X-ALD substitution exon 1 X-ALD_c.1899C>A ABCD1:c.1899C>A X-ALD substitution exon 1 X-ALD_c.1899C>T ABCD1:c.1899C>T X-ALD substitution exon 1 X-ALD_c.1903G>A ABCD1:c.1903G>A X-ALD substitution exon 1 X-ALD_c.1903_04insCCA ABCD1:c.1903_04insCCA X-ALD insertion exon 1 X-ALD_c.1907_1925del ABCD1:c.1907_1925del X-ALD deletion exon 1 X-ALD_c.1907G>T ABCD1:c.1907G>T X-ALD substitution exon 1 X-ALD_c.1912G>T ABCD1:c.1912G>T X-ALD substitution exon 1 X-ALD_c.1918G>A ABCD1:c.1918G>A X-ALD substitution exon 1 X-ALD_c.1933C>T ABCD1:c.1933C>T X-ALD substitution exon 1 X-ALD_c.1936G>C ABCD1:c.1936G>C X-ALD substitution exon 1 X-ALD_c.1939_40insGG ABCD1:c.1939_40insGG X-ALD insertion exon 1 X-ALD_c.1942A>T ABCD1:c.1942A>T X-ALD substitution exon 1 X-ALD_c.1948_1949delGC ABCD1:c.1948_1949delGC X-ALD deletion exon 1 X-ALD_c.1961T>G ABCD1:c.1961T>G X-ALD substitution exon 1 X-ALD_c.1961T>C ABCD1:c.1961T>C X-ALD substitution exon 1 X-ALD_c.1964T>C ABCD1:c.1964T>C X-ALD substitution exon 1 X-ALD_c.1967C>T ABCD1:c.1967C>T X-ALD substitution exon 1 X-ALD_c.1969_1971delATC ABCD1:c.1969_1971delATC X-ALD deletion exon 1 X-ALD_c.1970_1972delTCA ABCD1:c.1970_1972delTCA X-ALD deletion exon 1 X-ALD_c.1973C>T ABCD1:c.1973C>T X-ALD substitution exon 1 X-ALD_c.1978C>T ABCD1:c.1978C>T X-ALD substitution exon 1 X-ALD_c.1979G>A ABCD1:c.1979G>A X-ALD substitution exon 1 X-ALD_c.1979G>C ABCD1:c.1979G>C X-ALD substitution exon 1 X-ALD_c.1982_1983delCC ABCD1:c.1982_1983delCC X-ALD deletion exon 1 X-ALD_c.1988T>A ABCD1:c.1988T>A X-ALD substitution exon 1 X-ALD_c.1988_89insT ABCD1:c.1988_89insT X-ALD insertion exon 1 X-ALD_c.1991+1G>A ABCD1:c.1991+1G>A X-ALD substitution intron 1 X-ALD_c.1991+2T>C ABCD1:c.1991+2T>C X-ALD substitution intron 1 X-ALD_c.1992-1G>A ABCD1:c.1992-1G>A X-ALD substitution intron 1 X-ALD_c.1993_1995delinsGAG ABCD1:c.1993_1995delinsGAG X-ALD complex exon 1 X-ALD_c.1997A>C ABCD1:c.1997A>C X-ALD substitution exon 1 X-ALD_c.1998C>G ABCD1:c.1998C>G X-ALD substitution exon 1 X-ALD_c.1999C>G ABCD1:c.1999C>G X-ALD substitution exon 1 X-ALD_c.2000A>G ABCD1:c.2000A>G X-ALD substitution exon 1 X-ALD_c.2000A>T ABCD1:c.2000A>T X-ALD substitution exon 1 X-ALD_c.1999_2000delCA ABCD1:c.1999_2000delCA X-ALD deletion exon 1 X-ALD_c.2002A>C ABCD1:c.2002A>C X-ALD substitution exon 1 X-ALD_c.2003C>T ABCD1:c.2003C>T X-ALD substitution exon 1 X-ALD_c.2006_2007delAC ABCD1:c.2006_2007delAC X-ALD deletion exon 1 X-ALD_c.2006A>G ABCD1:c.2006A>G X-ALD substitution exon 1 X-ALD_c.2007C>G ABCD1:c.2007C>G X-ALD substitution exon 1 X-ALD_c.2010_11insT ABCD1:c.2010_11insT X-ALD insertion exon 1 X-ALD_c.2014C>T ABCD1:c.2014C>T X-ALD substitution exon 1 X-ALD_c.2019C>T ABCD1:c.2019C>T X-ALD substitution exon 1 X-ALD_c.2026G>T ABCD1:c.2026G>T X-ALD substitution exon 1 X-ALD_c.2030G>A ABCD1:c.2030G>A X-ALD substitution exon 1 X-ALD_c.2035T>C ABCD1:c.2035T>C X-ALD substitution exon 1 X-ALD_c.2036G>A ABCD1:c.2036G>A X-ALD substitution exon 1 X-ALD_c.2037G>A ABCD1:c.2037G>A X-ALD substitution exon 1 X-ALD_c.2051T>C ABCD1:c.2051T>C X-ALD substitution exon 1 X-ALD_c.2078C>T ABCD1:c.2078C>T X-ALD substitution exon 1 X-ALD_c.2238+8C>G ABCD1:c.2238+8C>G X-ALD substitution exon 1 X-ALD_c.1_1488del ABCD1:c.1_1488del X-ALD deletion not within known transcription unit 0 X-ALD_c.901_1081del ABCD1:c.901_1081del X-ALD deletion not within known transcription unit 0 X-ALD_c.901_1780del ABCD1:c.901_1780del X-ALD deletion not within known transcription unit 0 X-ALD_c.901_2238del ABCD1:c.901_2238del X-ALD deletion not within known transcription unit 0 X-ALD_c.1082_1488del ABCD1:c.1082_1488del X-ALD deletion not within known transcription unit 0 X-ALD_c.1082_1634del ABCD1:c.1082_1634del X-ALD deletion not within known transcription unit 0 X-ALD_c.1082_1780del ABCD1:c.1082_1780del X-ALD deletion not within known transcription unit 0 X-ALD_c.1082_2238del ABCD1:c.1082_2238del X-ALD deletion not within known transcription unit 0 X-ALD_c.1394_1488del ABCD1:c.1394_1488del X-ALD deletion not within known transcription unit 0 X-ALD_c.1489_1634del ABCD1:c.1489_1634del X-ALD deletion not within known transcription unit 0 X-ALD_c.1489_2238del ABCD1:c.1489_2238del X-ALD deletion not within known transcription unit 0 X-ALD_c.1635_1991del ABCD1:c.1635_1991del X-ALD deletion not within known transcription unit 0 X-ALD_c.1635_2238del ABCD1:c.1635_2238del X-ALD deletion not within known transcription unit 0 X-ALD_c.1781_1991del ABCD1:c.1781_1991del X-ALD deletion not within known transcription unit 0 X-ALD_c.1781_2238del ABCD1:c.1781_2238del X-ALD deletion not within known transcription unit 0 ACTA1:c.-66_-65delinsTC ACTA1:c.-66_-65delinsTC LOVD complex not within known transcription unit 1 ACTA1:c.1000C>T ACTA1:c.1000C>T LOVD substitution exon 1 ACTA1:c.1001C>G ACTA1:c.1001C>G LOVD substitution exon 1 ACTA1:c.1006G>A ACTA1:c.1006G>A LOVD substitution exon 1 ACTA1:c.1006G>C ACTA1:c.1006G>C LOVD substitution exon 1 ACTA1:c.1007A>C ACTA1:c.1007A>C LOVD substitution exon 1 ACTA1:c.1012A>G ACTA1:c.1012A>G LOVD substitution exon 1 ACTA1:c.1013A>T ACTA1:c.1013A>T LOVD substitution exon 1 ACTA1:c.1031delG ACTA1:c.1031delG LOVD deletion exon 1 ACTA1:c.1049C>T ACTA1:c.1049C>T LOVD substitution exon 1 ACTA1:c.1057A>G ACTA1:c.1057A>G LOVD substitution exon 1 ACTA1:c.1061T>A ACTA1:c.1061T>A LOVD substitution exon 1 ACTA1:c.1061T>C ACTA1:c.1061T>C LOVD substitution exon 1 ACTA1:c.1075A>C ACTA1:c.1075A>C LOVD substitution exon 1 ACTA1:c.1092delC ACTA1:c.1092delC LOVD deletion exon 1 ACTA1:c.109G>C ACTA1:c.109G>C LOVD substitution exon 1 ACTA1:c.109G>T ACTA1:c.109G>T LOVD substitution exon 1 ACTA1:c.1106C>T ACTA1:c.1106C>T LOVD substitution exon 1 ACTA1:c.110T>C ACTA1:c.110T>C LOVD substitution exon 1 ACTA1:c.1111A>C ACTA1:c.1111A>C LOVD substitution exon 1 ACTA1:c.1114G>T ACTA1:c.1114G>T LOVD substitution exon 1 ACTA1:c.1120C>A ACTA1:c.1120C>A LOVD substitution exon 1 ACTA1:c.1120C>T ACTA1:c.1120C>T LOVD substitution exon 1 ACTA1:c.1123A>C ACTA1:c.1123A>C LOVD substitution exon 1 ACTA1:c.1123A>G ACTA1:c.1123A>G LOVD substitution exon 1 ACTA1:c.1125A>C ACTA1:c.1125A>C LOVD substitution exon 1 ACTA1:c.1127G>C ACTA1:c.1127G>C LOVD substitution exon 1 ACTA1:c.1130T>A ACTA1:c.1130T>A LOVD substitution exon 1 ACTA1:c.1130T>G ACTA1:c.1130T>G LOVD substitution exon 1 ACTA1:c.1132T>C ACTA1:c.1132T>C LOVD substitution exon 1 ACTA1:c.1133A>G ACTA1:c.1133A>G LOVD substitution exon 1 ACTA1:c.1134G>T ACTA1:c.1134G>T LOVD substitution exon 1 ACTA1:c.113G>C ACTA1:c.113G>C LOVD substitution exon 1 ACTA1:c.119C>T ACTA1:c.119C>T LOVD substitution exon 1 ACTA1:c.121C>T ACTA1:c.121C>T LOVD substitution exon 1 ACTA1:c.124C>T ACTA1:c.124C>T LOVD substitution exon 1 ACTA1:c.128A>G ACTA1:c.128A>G LOVD substitution exon 1 ACTA1:c.130-10G>C ACTA1:c.130-10G>C LOVD substitution intron 1 ACTA1:c.130-5T>C ACTA1:c.130-5T>C LOVD substitution intron 1 ACTA1:c.131G>T ACTA1:c.131G>T LOVD substitution exon 1 ACTA1:c.133G>T ACTA1:c.133G>T LOVD substitution exon 1 ACTA1:c.137T>C ACTA1:c.137T>C LOVD substitution exon 1 ACTA1:c.142G>A ACTA1:c.142G>A LOVD substitution exon 1 ACTA1:c.142G>T ACTA1:c.142G>T LOVD substitution exon 1 ACTA1:c.143G>A ACTA1:c.143G>A LOVD substitution exon 1 ACTA1:c.145A>G ACTA1:c.145A>G LOVD substitution exon 1 ACTA1:c.169G>C ACTA1:c.169G>C LOVD substitution exon 1 ACTA1:c.16G>A ACTA1:c.16G>A LOVD substitution exon 1 ACTA1:c.172G>A ACTA1:c.172G>A LOVD substitution exon 1 ACTA1:c.197T>A ACTA1:c.197T>A LOVD substitution exon 1 ACTA1:c.197T>G ACTA1:c.197T>G LOVD substitution exon 1 ACTA1:c.203C>A ACTA1:c.203C>A LOVD substitution exon 1 ACTA1:c.203C>T ACTA1:c.203C>T LOVD substitution exon 1 ACTA1:c.209A>G ACTA1:c.209A>G LOVD substitution exon 1 ACTA1:c.210G>A ACTA1:c.210G>A LOVD substitution exon 1 ACTA1:c.215C>G ACTA1:c.215C>G LOVD substitution exon 1 ACTA1:c.217A>G ACTA1:c.217A>G LOVD substitution exon 1 ACTA1:c.217A>T ACTA1:c.217A>T LOVD substitution exon 1 ACTA1:c.220G>A ACTA1:c.220G>A LOVD substitution exon 1 ACTA1:c.222_223delinsTT ACTA1:c.222_223delinsTT LOVD complex exon 1 ACTA1:c.223C>A ACTA1:c.223C>A LOVD substitution exon 1 ACTA1:c.224A>G ACTA1:c.224A>G LOVD substitution exon 1 ACTA1:c.224A>T ACTA1:c.224A>T LOVD substitution exon 1 ACTA1:c.227G>A ACTA1:c.227G>A LOVD substitution exon 1 ACTA1:c.229A>C ACTA1:c.229A>C LOVD substitution exon 1 ACTA1:c.230T>G ACTA1:c.230T>G LOVD substitution exon 1 ACTA1:c.235A>G ACTA1:c.235A>G LOVD substitution exon 1 ACTA1:c.253G>A ACTA1:c.253G>A LOVD substitution exon 1 ACTA1:c.282C>G ACTA1:c.282C>G LOVD substitution exon 1 ACTA1:c.287T>C ACTA1:c.287T>C LOVD substitution exon 1 ACTA1:c.324C>A ACTA1:c.324C>A LOVD substitution exon 1 ACTA1:c.327G>C ACTA1:c.327G>C LOVD substitution exon 1 ACTA1:c.338A>G ACTA1:c.338A>G LOVD substitution exon 1 ACTA1:c.343A>G ACTA1:c.343A>G LOVD substitution exon 1 ACTA1:c.346G>A ACTA1:c.346G>A LOVD substitution exon 1 ACTA1:c.346G>T ACTA1:c.346G>T LOVD substitution exon 1 ACTA1:c.350A>C ACTA1:c.350A>C LOVD substitution exon 1 ACTA1:c.350A>G ACTA1:c.350A>G LOVD substitution exon 1 ACTA1:c.353G>A ACTA1:c.353G>A LOVD substitution exon 1 ACTA1:c.360G>T ACTA1:c.360G>T LOVD substitution exon 1 ACTA1:c.365C>G ACTA1:c.365C>G LOVD substitution exon 1 ACTA1:c.37G>A ACTA1:c.37G>A LOVD substitution exon 1 ACTA1:c.393delG ACTA1:c.393delG LOVD deletion exon 1 ACTA1:c.400A>G ACTA1:c.400A>G LOVD substitution exon 1 ACTA1:c.402G>A ACTA1:c.402G>A LOVD substitution exon 1 ACTA1:c.407T>C ACTA1:c.407T>C LOVD substitution exon 1 ACTA1:c.413T>C ACTA1:c.413T>C LOVD substitution exon 1 ACTA1:c.414C>G ACTA1:c.414C>G LOVD substitution exon 1 ACTA1:c.417G>C ACTA1:c.417G>C LOVD substitution exon 1 ACTA1:c.418G>C ACTA1:c.418G>C LOVD substitution exon 1 ACTA1:c.419C>A ACTA1:c.419C>A LOVD substitution exon 1 ACTA1:c.422T>C ACTA1:c.422T>C LOVD substitution exon 1 ACTA1:c.425T>C ACTA1:c.425T>C LOVD substitution exon 1 ACTA1:c.430C>T ACTA1:c.430C>T LOVD substitution exon 1 ACTA1:c.435C>G ACTA1:c.435C>G LOVD substitution exon 1 ACTA1:c.436delG ACTA1:c.436delG LOVD deletion exon 1 ACTA1:c.437_442dup ACTA1:c.437_442dup LOVD duplication exon 1 ACTA1:c.442G>A ACTA1:c.442G>A LOVD substitution exon 1 ACTA1:c.443G>A ACTA1:c.443G>A LOVD substitution exon 1 ACTA1:c.446G>A ACTA1:c.446G>A LOVD substitution exon 1 ACTA1:c.449C>A ACTA1:c.449C>A LOVD substitution exon 1 ACTA1:c.449C>G ACTA1:c.449C>G LOVD substitution exon 1 ACTA1:c.44G>A ACTA1:c.44G>A LOVD substitution exon 1 ACTA1:c.453C>A ACTA1:c.453C>A LOVD substitution exon 1 ACTA1:c.455-1G>A ACTA1:c.455-1G>A LOVD substitution intron 1 ACTA1:c.455-53A>C ACTA1:c.455-53A>C LOVD substitution intron 1 ACTA1:c.455G>C ACTA1:c.455G>C LOVD substitution exon 1 ACTA1:c.466G>A ACTA1:c.466G>A LOVD substitution exon 1 ACTA1:c.478G>T ACTA1:c.478G>T LOVD substitution exon 1 ACTA1:c.487C>G ACTA1:c.487C>G LOVD substitution exon 1 ACTA1:c.487C>T ACTA1:c.487C>T LOVD substitution exon 1 ACTA1:c.493G>A ACTA1:c.493G>A LOVD substitution exon 1 ACTA1:c.493G>C ACTA1:c.493G>C LOVD substitution exon 1 ACTA1:c.493G>T ACTA1:c.493G>T LOVD substitution exon 1 ACTA1:c.49G>C ACTA1:c.49G>C LOVD substitution exon 1 ACTA1:c.515C>A ACTA1:c.515C>A LOVD substitution exon 1 ACTA1:c.515C>G ACTA1:c.515C>G LOVD substitution exon 1 ACTA1:c.539T>C ACTA1:c.539T>C LOVD substitution exon 1 ACTA1:c.541delG ACTA1:c.541delG LOVD deletion exon 1 ACTA1:c.541G>A ACTA1:c.541G>A LOVD substitution exon 1 ACTA1:c.541G>C ACTA1:c.541G>C LOVD substitution exon 1 ACTA1:c.542A>G ACTA1:c.542A>G LOVD substitution exon 1 ACTA1:c.547G>A ACTA1:c.547G>A LOVD substitution exon 1 ACTA1:c.549G>A ACTA1:c.549G>A LOVD substitution exon 1 ACTA1:c.551G>A ACTA1:c.551G>A LOVD substitution exon 1 ACTA1:c.553C>A ACTA1:c.553C>A LOVD substitution exon 1 ACTA1:c.553C>G ACTA1:c.553C>G LOVD substitution exon 1 ACTA1:c.553C>T ACTA1:c.553C>T LOVD substitution exon 1 ACTA1:c.554G>T ACTA1:c.554G>T LOVD substitution exon 1 ACTA1:c.556G>C ACTA1:c.556G>C LOVD substitution exon 1 ACTA1:c.557A>G ACTA1:c.557A>G LOVD substitution exon 1 ACTA1:c.570C>A ACTA1:c.570C>A LOVD substitution exon 1 ACTA1:c.579G>T ACTA1:c.579G>T LOVD substitution exon 1 ACTA1:c.586A>C ACTA1:c.586A>C LOVD substitution exon 1 ACTA1:c.592C>A ACTA1:c.592C>A LOVD substitution exon 1 ACTA1:c.592C>T ACTA1:c.592C>T LOVD substitution exon 1 ACTA1:c.593G>A ACTA1:c.593G>A LOVD substitution exon 1 ACTA1:c.593G>T ACTA1:c.593G>T LOVD substitution exon 1 ACTA1:c.595G>A ACTA1:c.595G>A LOVD substitution exon 1 ACTA1:c.599A>G ACTA1:c.599A>G LOVD substitution exon 1 ACTA1:c.616+1G>A ACTA1:c.616+1G>A LOVD substitution intron 1 ACTA1:c.616G>A ACTA1:c.616G>A LOVD substitution exon 1 ACTA1:c.617-5C>A ACTA1:c.617-5C>A LOVD substitution intron 1 ACTA1:c.620A>G ACTA1:c.620A>G LOVD substitution exon 1 ACTA1:c.621G>C ACTA1:c.621G>C LOVD substitution exon 1 ACTA1:c.627G>C ACTA1:c.627G>C LOVD substitution exon 1 ACTA1:c.649A>T ACTA1:c.649A>T LOVD substitution exon 1 ACTA1:c.668T>C ACTA1:c.668T>C LOVD substitution exon 1 ACTA1:c.676G>C ACTA1:c.676G>C LOVD substitution exon 1 ACTA1:c.677A>G ACTA1:c.677A>G LOVD substitution exon 1 ACTA1:c.682G>C ACTA1:c.682G>C LOVD substitution exon 1 ACTA1:c.685A>G ACTA1:c.685A>G LOVD substitution exon 1 ACTA1:c.686T>C ACTA1:c.686T>C LOVD substitution exon 1 ACTA1:c.687G>A ACTA1:c.687G>A LOVD substitution exon 1 ACTA1:c.687G>C ACTA1:c.687G>C LOVD substitution exon 1 ACTA1:c.687G>T ACTA1:c.687G>T LOVD substitution exon 1 ACTA1:c.695C>T ACTA1:c.695C>T LOVD substitution exon 1 ACTA1:c.715G>A ACTA1:c.715G>A LOVD substitution exon 1 ACTA1:c.715G>T ACTA1:c.715G>T LOVD substitution exon 1 ACTA1:c.727G>A ACTA1:c.727G>A LOVD substitution exon 1 ACTA1:c.738C>A ACTA1:c.738C>A LOVD substitution exon 1 ACTA1:c.739G>C ACTA1:c.739G>C LOVD substitution exon 1 ACTA1:c.742C>A ACTA1:c.742C>A LOVD substitution exon 1 ACTA1:c.743A>G ACTA1:c.743A>G LOVD substitution exon 1 ACTA1:c.758G>A ACTA1:c.758G>A LOVD substitution exon 1 ACTA1:c.760A>T ACTA1:c.760A>T LOVD substitution exon 1 ACTA1:c.764A>G ACTA1:c.764A>G LOVD substitution exon 1 ACTA1:c.770T>G ACTA1:c.770T>G LOVD substitution exon 1 ACTA1:c.773G>A ACTA1:c.773G>A LOVD substitution exon 1 ACTA1:c.773G>T ACTA1:c.773G>T LOVD substitution exon 1 ACTA1:c.782A>T ACTA1:c.782A>T LOVD substitution exon 1 ACTA1:c.794A>T ACTA1:c.794A>T LOVD substitution exon 1 ACTA1:c.796C>A ACTA1:c.796C>A LOVD substitution exon 1 ACTA1:c.79G>A ACTA1:c.79G>A LOVD substitution exon 1 ACTA1:c.7G>T ACTA1:c.7G>T LOVD substitution exon 1 ACTA1:c.800C>G ACTA1:c.800C>G LOVD substitution exon 1 ACTA1:c.802T>C ACTA1:c.802T>C LOVD substitution exon 1 ACTA1:c.807_808delinsAA ACTA1:c.807_808delinsAA LOVD complex exon 1 ACTA1:c.808G>A ACTA1:c.808G>A LOVD substitution exon 1 ACTA1:c.808G>C ACTA1:c.808G>C LOVD substitution exon 1 ACTA1:c.808G>T ACTA1:c.808G>T LOVD substitution exon 1 ACTA1:c.809-12dupC ACTA1:c.809-12dupC LOVD duplication intron 1 ACTA1:c.809-14G>C ACTA1:c.809-14G>C LOVD substitution intron 1 ACTA1:c.809-1G>T ACTA1:c.809-1G>T LOVD substitution intron 1 ACTA1:c.809-2A>T ACTA1:c.809-2A>T LOVD substitution intron 1 ACTA1:c.809-35delG ACTA1:c.809-35delG LOVD deletion intron 1 ACTA1:c.809G>A ACTA1:c.809G>A LOVD substitution exon 1 ACTA1:c.812T>G ACTA1:c.812T>G LOVD substitution exon 1 ACTA1:c.814G>C ACTA1:c.814G>C LOVD substitution exon 1 ACTA1:c.821C>A ACTA1:c.821C>A LOVD substitution exon 1 ACTA1:c.841T>C ACTA1:c.841T>C LOVD substitution exon 1 ACTA1:c.846C>G ACTA1:c.846C>G LOVD substitution exon 1 ACTA1:c.854T>A ACTA1:c.854T>A LOVD substitution exon 1 ACTA1:c.854T>G ACTA1:c.854T>G LOVD substitution exon 1 ACTA1:c.863A>G ACTA1:c.863A>G LOVD substitution exon 1 ACTA1:c.868G>A ACTA1:c.868G>A LOVD substitution exon 1 ACTA1:c.871A>T ACTA1:c.871A>T LOVD substitution exon 1 ACTA1:c.880G>T ACTA1:c.880G>T LOVD substitution exon 1 ACTA1:c.881A>T ACTA1:c.881A>T LOVD substitution exon 1 ACTA1:c.89G>A ACTA1:c.89G>A LOVD substitution exon 1 ACTA1:c.902T>A ACTA1:c.902T>A LOVD substitution exon 1 ACTA1:c.983_985del ACTA1:c.983_985del LOVD deletion exon 1 ACTA1:c.984G>C ACTA1:c.984G>C LOVD substitution exon 1 ACTA1:c.990+1G>T ACTA1:c.990+1G>T LOVD substitution intron 1 ACTA1:c.996C>A ACTA1:c.996C>A LOVD substitution exon 1 CAPN3:c.(550delA)? CAPN3:c.(550delA)? LOVD deletion exon 0 CAPN3:c.(619_621del)? CAPN3:c.(619_621del)? LOVD deletion exon 0 CAPN3:c.*134C>T CAPN3:c.*134C>T LOVD substitution not within known transcription unit 1 CAPN3:c.*51T>A CAPN3:c.*51T>A LOVD substitution not within known transcription unit 1 CAPN3:c.-104G>C CAPN3:c.-104G>C LOVD substitution not within known transcription unit 1 CAPN3:c.-322A>C CAPN3:c.-322A>C LOVD substitution not within known transcription unit 1 CAPN3:c.-408T>C CAPN3:c.-408T>C LOVD substitution not within known transcription unit 1 CAPN3:c.-552G>A CAPN3:c.-552G>A LOVD substitution not within known transcription unit 1 CAPN3:c.-719A>T CAPN3:c.-719A>T LOVD substitution not within known transcription unit 1 CAPN3:c.-763C>G CAPN3:c.-763C>G LOVD substitution not within known transcription unit 1 CAPN3:c.1000C>T CAPN3:c.1000C>T LOVD substitution exon 1 CAPN3:c.1001A>T CAPN3:c.1001A>T LOVD substitution exon 1 CAPN3:c.1001dupA CAPN3:c.1001dupA LOVD duplication exon 1 CAPN3:c.1002C>G CAPN3:c.1002C>G LOVD substitution exon 1 CAPN3:c.1006T>A CAPN3:c.1006T>A LOVD substitution exon 1 CAPN3:c.100delG CAPN3:c.100delG LOVD deletion exon 1 CAPN3:c.1029+198C>T CAPN3:c.1029+198C>T LOVD substitution intron 1 CAPN3:c.1029+1G>T CAPN3:c.1029+1G>T LOVD substitution intron 1 CAPN3:c.1029+3A>G CAPN3:c.1029+3A>G LOVD substitution intron 1 CAPN3:c.1030-1G>A CAPN3:c.1030-1G>A LOVD substitution intron 1 CAPN3:c.1034C>T CAPN3:c.1034C>T LOVD substitution exon 1 CAPN3:c.1043delG CAPN3:c.1043delG LOVD deletion exon 1 CAPN3:c.1058T>C CAPN3:c.1058T>C LOVD substitution exon 1 CAPN3:c.1061T>C CAPN3:c.1061T>C LOVD substitution exon 1 CAPN3:c.1061T>G CAPN3:c.1061T>G LOVD substitution exon 1 CAPN3:c.1063C>G CAPN3:c.1063C>G LOVD substitution exon 1 CAPN3:c.1063C>T CAPN3:c.1063C>T LOVD substitution exon 1 CAPN3:c.1069C>T CAPN3:c.1069C>T LOVD substitution exon 1 CAPN3:c.1070G>A CAPN3:c.1070G>A LOVD substitution exon 1 CAPN3:c.1076C>T CAPN3:c.1076C>T LOVD substitution exon 1 CAPN3:c.1079G>A CAPN3:c.1079G>A LOVD substitution exon 1 CAPN3:c.1080G>C CAPN3:c.1080G>C LOVD substitution exon 1 CAPN3:c.1099G>A CAPN3:c.1099G>A LOVD substitution exon 1 CAPN3:c.10G>A CAPN3:c.10G>A LOVD substitution exon 1 CAPN3:c.1106G>A CAPN3:c.1106G>A LOVD substitution exon 1 CAPN3:c.1115+5G>A CAPN3:c.1115+5G>A LOVD substitution intron 1 CAPN3:c.1115+5G>T CAPN3:c.1115+5G>T LOVD substitution intron 1 CAPN3:c.1116-1G>A CAPN3:c.1116-1G>A LOVD substitution intron 1 CAPN3:c.1116-5A>G CAPN3:c.1116-5A>G LOVD substitution intron 1 CAPN3:c.1156C>T CAPN3:c.1156C>T LOVD substitution exon 1 CAPN3:c.1191C>G CAPN3:c.1191C>G LOVD substitution exon 1 CAPN3:c.1192T>C CAPN3:c.1192T>C LOVD substitution exon 1 CAPN3:c.1193+6T>A CAPN3:c.1193+6T>A LOVD substitution intron 1 CAPN3:c.1193G>C CAPN3:c.1193G>C LOVD substitution exon 1 CAPN3:c.1194-26C>G CAPN3:c.1194-26C>G LOVD substitution intron 1 CAPN3:c.1194-9A>G CAPN3:c.1194-9A>G LOVD substitution intron 1 CAPN3:c.1202A>G CAPN3:c.1202A>G LOVD substitution exon 1 CAPN3:c.1250C>T CAPN3:c.1250C>T LOVD substitution exon 1 CAPN3:c.1256A>G CAPN3:c.1256A>G LOVD substitution exon 1 CAPN3:c.1257T>G CAPN3:c.1257T>G LOVD substitution exon 1 CAPN3:c.1259C>A CAPN3:c.1259C>A LOVD substitution exon 1 CAPN3:c.1263G>A CAPN3:c.1263G>A LOVD substitution exon 1 CAPN3:c.1286G>A CAPN3:c.1286G>A LOVD substitution exon 1 CAPN3:c.1290A>G CAPN3:c.1290A>G LOVD substitution exon 1 CAPN3:c.1291G>A CAPN3:c.1291G>A LOVD substitution exon 1 CAPN3:c.1292dupT CAPN3:c.1292dupT LOVD duplication exon 1 CAPN3:c.1298_1299del CAPN3:c.1298_1299del LOVD deletion exon 1 CAPN3:c.1301A>T CAPN3:c.1301A>T LOVD substitution exon 1 CAPN3:c.1302C>T CAPN3:c.1302C>T LOVD substitution exon 1 CAPN3:c.1303G>A CAPN3:c.1303G>A LOVD substitution exon 1 CAPN3:c.1309C>G CAPN3:c.1309C>G LOVD substitution exon 1 CAPN3:c.1309C>T CAPN3:c.1309C>T LOVD substitution exon 1 CAPN3:c.1312T>C CAPN3:c.1312T>C LOVD substitution exon 1 CAPN3:c.1318C>T CAPN3:c.1318C>T LOVD substitution exon 1 CAPN3:c.1319G>A CAPN3:c.1319G>A LOVD substitution exon 1 CAPN3:c.1319_1322del CAPN3:c.1319_1322del LOVD deletion exon 1 CAPN3:c.1322delG CAPN3:c.1322delG LOVD deletion exon 1 CAPN3:c.1322G>A CAPN3:c.1322G>A LOVD substitution exon 1 CAPN3:c.1328C>T CAPN3:c.1328C>T LOVD substitution exon 1 CAPN3:c.1333G>A CAPN3:c.1333G>A LOVD substitution exon 1 CAPN3:c.1336G>A CAPN3:c.1336G>A LOVD substitution exon 1 CAPN3:c.1339T>C CAPN3:c.1339T>C LOVD substitution exon 1 CAPN3:c.133G>A CAPN3:c.133G>A LOVD substitution exon 1 CAPN3:c.1342C>G CAPN3:c.1342C>G LOVD substitution exon 1 CAPN3:c.1342C>T CAPN3:c.1342C>T LOVD substitution exon 1 CAPN3:c.1343G>A CAPN3:c.1343G>A LOVD substitution exon 1 CAPN3:c.1345A>C CAPN3:c.1345A>C LOVD substitution exon 1 CAPN3:c.1354G>C CAPN3:c.1354G>C LOVD substitution exon 1 CAPN3:c.1355-1G>C CAPN3:c.1355-1G>C LOVD substitution intron 1 CAPN3:c.1355-6G>A CAPN3:c.1355-6G>A LOVD substitution intron 1 CAPN3:c.1355-6G>C CAPN3:c.1355-6G>C LOVD substitution intron 1 CAPN3:c.1361T>C CAPN3:c.1361T>C LOVD substitution exon 1 CAPN3:c.1373delC CAPN3:c.1373delC LOVD deletion exon 1 CAPN3:c.1381C>T CAPN3:c.1381C>T LOVD substitution exon 1 CAPN3:c.1385T>G CAPN3:c.1385T>G LOVD substitution exon 1 CAPN3:c.1401_1403del CAPN3:c.1401_1403del LOVD deletion exon 1 CAPN3:c.140_142del CAPN3:c.140_142del LOVD deletion exon 1 CAPN3:c.1435A>G CAPN3:c.1435A>G LOVD substitution exon 1 CAPN3:c.143G>A CAPN3:c.143G>A LOVD substitution exon 1 CAPN3:c.1448C>A CAPN3:c.1448C>A LOVD substitution exon 1 CAPN3:c.1450C>A CAPN3:c.1450C>A LOVD substitution exon 1 CAPN3:c.1456C>G CAPN3:c.1456C>G LOVD substitution exon 1 CAPN3:c.145C>T CAPN3:c.145C>T LOVD substitution exon 1 CAPN3:c.1465C>T CAPN3:c.1465C>T LOVD substitution exon 1 CAPN3:c.1466G>A CAPN3:c.1466G>A LOVD substitution exon 1 CAPN3:c.1468C>T CAPN3:c.1468C>T LOVD substitution exon 1 CAPN3:c.1469G>A CAPN3:c.1469G>A LOVD substitution exon 1 CAPN3:c.146G>A CAPN3:c.146G>A LOVD substitution exon 1 CAPN3:c.1477C>G CAPN3:c.1477C>G LOVD substitution exon 1 CAPN3:c.1477C>T CAPN3:c.1477C>T LOVD substitution exon 1 CAPN3:c.1486G>A CAPN3:c.1486G>A LOVD substitution exon 1 CAPN3:c.149A>G CAPN3:c.149A>G LOVD substitution exon 1 CAPN3:c.1505T>C CAPN3:c.1505T>C LOVD substitution exon 1 CAPN3:c.1524+129C>T CAPN3:c.1524+129C>T LOVD substitution intron 1 CAPN3:c.1524+1G>C CAPN3:c.1524+1G>C LOVD substitution intron 1 CAPN3:c.1524+47G>A CAPN3:c.1524+47G>A LOVD substitution intron 1 CAPN3:c.1524+6C>T CAPN3:c.1524+6C>T LOVD substitution intron 1 CAPN3:c.1524+81C>T CAPN3:c.1524+81C>T LOVD substitution intron 1 CAPN3:c.1524G>A CAPN3:c.1524G>A LOVD substitution exon 1 CAPN3:c.1536+133T>C CAPN3:c.1536+133T>C LOVD substitution intron 1 CAPN3:c.1536+1G>T CAPN3:c.1536+1G>T LOVD substitution intron 1 CAPN3:c.1537-1G>A CAPN3:c.1537-1G>A LOVD substitution intron 1 CAPN3:c.1537-33G>A CAPN3:c.1537-33G>A LOVD substitution intron 1 CAPN3:c.1537-40C>G CAPN3:c.1537-40C>G LOVD substitution intron 1 CAPN3:c.1537-48T>C CAPN3:c.1537-48T>C LOVD substitution intron 1 CAPN3:c.1542C>T CAPN3:c.1542C>T LOVD substitution exon 1 CAPN3:c.1566G>A CAPN3:c.1566G>A LOVD substitution exon 1 CAPN3:c.1567G>A CAPN3:c.1567G>A LOVD substitution exon 1 CAPN3:c.1573_1575del CAPN3:c.1573_1575del LOVD deletion exon 1 CAPN3:c.1574T>C CAPN3:c.1574T>C LOVD substitution exon 1 CAPN3:c.1610A>G CAPN3:c.1610A>G LOVD substitution exon 1 CAPN3:c.1611C>A CAPN3:c.1611C>A LOVD substitution exon 1 CAPN3:c.1621C>T CAPN3:c.1621C>T LOVD substitution exon 1 CAPN3:c.1622G>A CAPN3:c.1622G>A LOVD substitution exon 1 CAPN3:c.163G>A CAPN3:c.163G>A LOVD substitution exon 1 CAPN3:c.1641C>A CAPN3:c.1641C>A LOVD substitution exon 1 CAPN3:c.1657G>A CAPN3:c.1657G>A LOVD substitution exon 1 CAPN3:c.1662C>G CAPN3:c.1662C>G LOVD substitution exon 1 CAPN3:c.1663G>A CAPN3:c.1663G>A LOVD substitution exon 1 CAPN3:c.1667T>C CAPN3:c.1667T>C LOVD substitution exon 1 CAPN3:c.1668C>T CAPN3:c.1668C>T LOVD substitution exon 1 CAPN3:c.1693delC CAPN3:c.1693delC LOVD deletion exon 1 CAPN3:c.1694A>C CAPN3:c.1694A>C LOVD substitution exon 1 CAPN3:c.1699G>T CAPN3:c.1699G>T LOVD substitution exon 1 CAPN3:c.1706T>C CAPN3:c.1706T>C LOVD substitution exon 1 CAPN3:c.1711delC CAPN3:c.1711delC LOVD deletion exon 1 CAPN3:c.1714C>T CAPN3:c.1714C>T LOVD substitution exon 1 CAPN3:c.1715G>A CAPN3:c.1715G>A LOVD substitution exon 1 CAPN3:c.1715G>C CAPN3:c.1715G>C LOVD substitution exon 1 CAPN3:c.1722delC CAPN3:c.1722delC LOVD deletion exon 1 CAPN3:c.1742C>G CAPN3:c.1742C>G LOVD substitution exon 1 CAPN3:c.1743_1744del CAPN3:c.1743_1744del LOVD deletion exon 1 CAPN3:c.1745+1G>A CAPN3:c.1745+1G>A LOVD substitution intron 1 CAPN3:c.1745+4_1745+7del CAPN3:c.1745+4_1745+7del LOVD deletion intron 1 CAPN3:c.1745+5G>A CAPN3:c.1745+5G>A LOVD substitution intron 1 CAPN3:c.1745+5G>C CAPN3:c.1745+5G>C LOVD substitution intron 1 CAPN3:c.1746-20C>G CAPN3:c.1746-20C>G LOVD substitution intron 1 CAPN3:c.1746-64C>T CAPN3:c.1746-64C>T LOVD substitution intron 1 CAPN3:c.1782+1072G>C CAPN3:c.1782+1072G>C LOVD substitution intron 1 CAPN3:c.1782+23_1782+24insAGAG CAPN3:c.1782+23_1782+24insAGAG LOVD insertion intron 1 CAPN3:c.1783-59C>T CAPN3:c.1783-59C>T LOVD substitution intron 1 CAPN3:c.1783-5_1784del CAPN3:c.1783-5_1784del LOVD deletion intron 1 CAPN3:c.1783-63C>G CAPN3:c.1783-63C>G LOVD substitution intron 1 CAPN3:c.1788_1791del CAPN3:c.1788_1791del LOVD deletion exon 1 CAPN3:c.1788_1793del CAPN3:c.1788_1793del LOVD deletion exon 1 CAPN3:c.1792_1795del CAPN3:c.1792_1795del LOVD deletion exon 1 CAPN3:c.1795dupA CAPN3:c.1795dupA LOVD duplication exon 1 CAPN3:c.1800+21C>T CAPN3:c.1800+21C>T LOVD substitution intron 1 CAPN3:c.1800+2T>C CAPN3:c.1800+2T>C LOVD substitution intron 1 CAPN3:c.1801-51G>A CAPN3:c.1801-51G>A LOVD substitution intron 1 CAPN3:c.1811_1812del CAPN3:c.1811_1812del LOVD deletion exon 1 CAPN3:c.1817C>T CAPN3:c.1817C>T LOVD substitution exon 1 CAPN3:c.1823G>A CAPN3:c.1823G>A LOVD substitution exon 1 CAPN3:c.1826C>A CAPN3:c.1826C>A LOVD substitution exon 1 CAPN3:c.1838delA CAPN3:c.1838delA LOVD deletion exon 1 CAPN3:c.1855C>T CAPN3:c.1855C>T LOVD substitution exon 1 CAPN3:c.1865A>C CAPN3:c.1865A>C LOVD substitution exon 1 CAPN3:c.1865_1866del CAPN3:c.1865_1866del LOVD deletion exon 1 CAPN3:c.1868_1877del CAPN3:c.1868_1877del LOVD deletion exon 1 CAPN3:c.1872C>T CAPN3:c.1872C>T LOVD substitution exon 1 CAPN3:c.1897C>T CAPN3:c.1897C>T LOVD substitution exon 1 CAPN3:c.1910delC CAPN3:c.1910delC LOVD deletion exon 1 CAPN3:c.1913A>C CAPN3:c.1913A>C LOVD substitution exon 1 CAPN3:c.1914+30G>A CAPN3:c.1914+30G>A LOVD substitution intron 1 CAPN3:c.1917_1922del CAPN3:c.1917_1922del LOVD deletion exon 1 CAPN3:c.1939G>T CAPN3:c.1939G>T LOVD substitution exon 1 CAPN3:c.193C>G CAPN3:c.193C>G LOVD substitution exon 1 CAPN3:c.1968_1981dup CAPN3:c.1968_1981dup LOVD duplication exon 1 CAPN3:c.1971_1973del CAPN3:c.1971_1973del LOVD deletion exon 1 CAPN3:c.1979A>G CAPN3:c.1979A>G LOVD substitution exon 1 CAPN3:c.1981delA CAPN3:c.1981delA LOVD deletion exon 1 CAPN3:c.1981_1984del CAPN3:c.1981_1984del LOVD deletion exon 1 CAPN3:c.1983delA CAPN3:c.1983delA LOVD deletion exon 1 CAPN3:c.1984G>T CAPN3:c.1984G>T LOVD substitution exon 1 CAPN3:c.1992+100C>T CAPN3:c.1992+100C>T LOVD substitution intron 1 CAPN3:c.1992+1G>T CAPN3:c.1992+1G>T LOVD substitution intron 1 CAPN3:c.1993-1G>A CAPN3:c.1993-1G>A LOVD substitution intron 1 CAPN3:c.1993-1G>T CAPN3:c.1993-1G>T LOVD substitution intron 1 CAPN3:c.1993-5_1993-3delCTC CAPN3:c.1993-5_1993-3delCTC LOVD deletion intron 1 CAPN3:c.1999dupG CAPN3:c.1999dupG LOVD duplication exon 1 CAPN3:c.19_23del CAPN3:c.19_23del LOVD deletion exon 1 CAPN3:c.2005T>A CAPN3:c.2005T>A LOVD substitution exon 1 CAPN3:c.2019C>G CAPN3:c.2019C>G LOVD substitution exon 1 CAPN3:c.2023_2025del CAPN3:c.2023_2025del LOVD deletion exon 1 CAPN3:c.2036_2037del CAPN3:c.2036_2037del LOVD deletion exon 1 CAPN3:c.2050+1delG CAPN3:c.2050+1delG LOVD deletion intron 1 CAPN3:c.2050+1G>A CAPN3:c.2050+1G>A LOVD substitution intron 1 CAPN3:c.2050+29G>A CAPN3:c.2050+29G>A LOVD substitution intron 1 CAPN3:c.2050+36G>A CAPN3:c.2050+36G>A LOVD substitution intron 1 CAPN3:c.2069_2070del CAPN3:c.2069_2070del LOVD deletion exon 1 CAPN3:c.206T>C CAPN3:c.206T>C LOVD substitution exon 1 CAPN3:c.2071_2080del CAPN3:c.2071_2080del LOVD deletion exon 1 CAPN3:c.2077A>C CAPN3:c.2077A>C LOVD substitution exon 1 CAPN3:c.2092C>A CAPN3:c.2092C>A LOVD substitution exon 1 CAPN3:c.2092C>T CAPN3:c.2092C>T LOVD substitution exon 1 CAPN3:c.2093G>C CAPN3:c.2093G>C LOVD substitution exon 1 CAPN3:c.2105C>A CAPN3:c.2105C>A LOVD substitution exon 1 CAPN3:c.2105C>T CAPN3:c.2105C>T LOVD substitution exon 1 CAPN3:c.2113G>C CAPN3:c.2113G>C LOVD substitution exon 1 CAPN3:c.2114A>G CAPN3:c.2114A>G LOVD substitution exon 1 CAPN3:c.2115+1_2115+2dup CAPN3:c.2115+1_2115+2dup LOVD duplication intron 1 CAPN3:c.2115+46G>A CAPN3:c.2115+46G>A LOVD substitution intron 1 CAPN3:c.2115+4T>A CAPN3:c.2115+4T>A LOVD substitution intron 1 CAPN3:c.2117C>A CAPN3:c.2117C>A LOVD substitution exon 1 CAPN3:c.2120A>G CAPN3:c.2120A>G LOVD substitution exon 1 CAPN3:c.2134C>T CAPN3:c.2134C>T LOVD substitution exon 1 CAPN3:c.2148G>T CAPN3:c.2148G>T LOVD substitution exon 1 CAPN3:c.2177_2184+8del CAPN3:c.2177_2184+8del LOVD deletion not within known transcription unit 1 CAPN3:c.2182C>T CAPN3:c.2182C>T LOVD substitution exon 1 CAPN3:c.2184+3G>A CAPN3:c.2184+3G>A LOVD substitution intron 1 CAPN3:c.2184G>A CAPN3:c.2184G>A LOVD substitution exon 1 CAPN3:c.2185-12_2194del CAPN3:c.2185-12_2194del LOVD deletion intron 1 CAPN3:c.2185-16A>G CAPN3:c.2185-16A>G LOVD substitution intron 1 CAPN3:c.2185-2A>G CAPN3:c.2185-2A>G LOVD substitution intron 1 CAPN3:c.2190_2196del CAPN3:c.2190_2196del LOVD deletion exon 1 CAPN3:c.2192T>C CAPN3:c.2192T>C LOVD substitution exon 1 CAPN3:c.2207_2208del CAPN3:c.2207_2208del LOVD deletion exon 1 CAPN3:c.2212C>T CAPN3:c.2212C>T LOVD substitution exon 1 CAPN3:c.2226_2240del CAPN3:c.2226_2240del LOVD deletion exon 1 CAPN3:c.2227_2230dup CAPN3:c.2227_2230dup LOVD duplication exon 1 CAPN3:c.2230A>G CAPN3:c.2230A>G LOVD substitution exon 1 CAPN3:c.2231G>C CAPN3:c.2231G>C LOVD substitution exon 1 CAPN3:c.2235C>G CAPN3:c.2235C>G LOVD substitution exon 1 CAPN3:c.2235C>T CAPN3:c.2235C>T LOVD substitution exon 1 CAPN3:c.2242C>T CAPN3:c.2242C>T LOVD substitution exon 1 CAPN3:c.2243G>A CAPN3:c.2243G>A LOVD substitution exon 1 CAPN3:c.2245A>C CAPN3:c.2245A>C LOVD substitution exon 1 CAPN3:c.224A>G CAPN3:c.224A>G LOVD substitution exon 1 CAPN3:c.2257delinsAA CAPN3:c.2257delinsAA LOVD complex exon 1 CAPN3:c.2257G>A CAPN3:c.2257G>A LOVD substitution exon 1 CAPN3:c.225dupT CAPN3:c.225dupT LOVD duplication exon 1 CAPN3:c.2263+1G>C CAPN3:c.2263+1G>C LOVD substitution intron 1 CAPN3:c.2263+2T>A CAPN3:c.2263+2T>A LOVD substitution intron 1 CAPN3:c.2264-1G>C CAPN3:c.2264-1G>C LOVD substitution intron 1 CAPN3:c.2269C>G CAPN3:c.2269C>G LOVD substitution exon 1 CAPN3:c.2279dupA CAPN3:c.2279dupA LOVD duplication exon 1 CAPN3:c.2288A>G CAPN3:c.2288A>G LOVD substitution exon 1 CAPN3:c.2290del CAPN3:c.2290del LOVD deletion exon 1 CAPN3:c.2292C>T CAPN3:c.2292C>T LOVD substitution exon 1 CAPN3:c.2295_2297del CAPN3:c.2295_2297del LOVD deletion exon 1 CAPN3:c.229G>A CAPN3:c.229G>A LOVD substitution exon 1 CAPN3:c.2306G>A CAPN3:c.2306G>A LOVD substitution exon 1 CAPN3:c.2306G>C CAPN3:c.2306G>C LOVD substitution exon 1 CAPN3:c.2314_2317del CAPN3:c.2314_2317del LOVD deletion exon 1 CAPN3:c.2317_2321delinsT CAPN3:c.2317_2321delinsT LOVD complex exon 1 CAPN3:c.2318_2321dup CAPN3:c.2318_2321dup LOVD duplication exon 1 CAPN3:c.2319dupA CAPN3:c.2319dupA LOVD duplication exon 1 CAPN3:c.2320C>G CAPN3:c.2320C>G LOVD substitution exon 1 CAPN3:c.232C>A CAPN3:c.232C>A LOVD substitution exon 1 CAPN3:c.2330T>C CAPN3:c.2330T>C LOVD substitution exon 1 CAPN3:c.2332G>A CAPN3:c.2332G>A LOVD substitution exon 1 CAPN3:c.2335T>A CAPN3:c.2335T>A LOVD substitution exon 1 CAPN3:c.2338G>C CAPN3:c.2338G>C LOVD substitution exon 1 CAPN3:c.2362_2363delinsTCATCT CAPN3:c.2362_2363delinsTCATCT LOVD complex exon 1 CAPN3:c.2371G>A CAPN3:c.2371G>A LOVD substitution exon 1 CAPN3:c.2371G>T CAPN3:c.2371G>T LOVD substitution exon 1 CAPN3:c.2376G>A CAPN3:c.2376G>A LOVD substitution exon 1 CAPN3:c.2380+12delA CAPN3:c.2380+12delA LOVD deletion intron 1 CAPN3:c.2380+19C>T CAPN3:c.2380+19C>T LOVD substitution intron 1 CAPN3:c.2380+1G>T CAPN3:c.2380+1G>T LOVD substitution intron 1 CAPN3:c.2380+20dupT CAPN3:c.2380+20dupT LOVD duplication intron 1 CAPN3:c.2380+2T>G CAPN3:c.2380+2T>G LOVD substitution intron 1 CAPN3:c.2381-129G>A CAPN3:c.2381-129G>A LOVD substitution intron 1 CAPN3:c.2381-12A>G CAPN3:c.2381-12A>G LOVD substitution intron 1 CAPN3:c.2381-79T>C CAPN3:c.2381-79T>C LOVD substitution intron 1 CAPN3:c.2390A>C CAPN3:c.2390A>C LOVD substitution exon 1 CAPN3:c.2393C>A CAPN3:c.2393C>A LOVD substitution exon 1 CAPN3:c.240C>G CAPN3:c.240C>G LOVD substitution exon 1 CAPN3:c.2420T>C CAPN3:c.2420T>C LOVD substitution exon 1 CAPN3:c.2433T>C CAPN3:c.2433T>C LOVD substitution exon 1 CAPN3:c.2439+69C>T CAPN3:c.2439+69C>T LOVD substitution intron 1 CAPN3:c.2440-1G>C CAPN3:c.2440-1G>C LOVD substitution intron 1 CAPN3:c.2440-3C>G CAPN3:c.2440-3C>G LOVD substitution intron 1 CAPN3:c.2440-42A>T CAPN3:c.2440-42A>T LOVD substitution intron 1 CAPN3:c.2440-45delG CAPN3:c.2440-45delG LOVD deletion intron 1 CAPN3:c.2440-45dupG CAPN3:c.2440-45dupG LOVD duplication intron 1 CAPN3:c.2440-45_2440-41del CAPN3:c.2440-45_2440-41del LOVD deletion intron 1 CAPN3:c.2440-45_2440-42del CAPN3:c.2440-45_2440-42del LOVD deletion intron 1 CAPN3:c.2440-6_2440-3del CAPN3:c.2440-6_2440-3del LOVD deletion intron 1 CAPN3:c.2442G>A CAPN3:c.2442G>A LOVD substitution exon 1 CAPN3:c.245C>T CAPN3:c.245C>T LOVD substitution exon 1 CAPN3:c.2464T>C CAPN3:c.2464T>C LOVD substitution exon 1 CAPN3:c.246G>A CAPN3:c.246G>A LOVD substitution exon 1 CAPN3:c.249_253del CAPN3:c.249_253del LOVD deletion exon 1 CAPN3:c.257C>T CAPN3:c.257C>T LOVD substitution exon 1 CAPN3:c.258dupT CAPN3:c.258dupT LOVD duplication exon 1 CAPN3:c.259C>G CAPN3:c.259C>G LOVD substitution exon 1 CAPN3:c.260dupT CAPN3:c.260dupT LOVD duplication exon 1 CAPN3:c.260_265delinsGA CAPN3:c.260_265delinsGA LOVD complex exon 1 CAPN3:c.277_300del CAPN3:c.277_300del LOVD deletion exon 1 CAPN3:c.286delC CAPN3:c.286delC LOVD deletion exon 1 CAPN3:c.291C>A CAPN3:c.291C>A LOVD substitution exon 1 CAPN3:c.292G>A CAPN3:c.292G>A LOVD substitution exon 1 CAPN3:c.302G>A CAPN3:c.302G>A LOVD substitution exon 1 CAPN3:c.304C>T CAPN3:c.304C>T LOVD substitution exon 1 CAPN3:c.308C>T CAPN3:c.308C>T LOVD substitution exon 1 CAPN3:c.309+1G>T CAPN3:c.309+1G>T LOVD substitution intron 1 CAPN3:c.309+4469_1116-1204del CAPN3:c.309+4469_1116-1204del LOVD deletion intron 1 CAPN3:c.309G>A CAPN3:c.309G>A LOVD substitution exon 1 CAPN3:c.310-?_1115+?del CAPN3:c.310-?_1115+?del LOVD deletion not within known transcription unit 0 CAPN3:c.310-?_945+?del CAPN3:c.310-?_945+?del LOVD deletion not within known transcription unit 0 CAPN3:c.318C>T CAPN3:c.318C>T LOVD substitution exon 1 CAPN3:c.319G>A CAPN3:c.319G>A LOVD substitution exon 1 CAPN3:c.327_328del CAPN3:c.327_328del LOVD deletion exon 1 CAPN3:c.327_328dup CAPN3:c.327_328dup LOVD duplication exon 1 CAPN3:c.328C>T CAPN3:c.328C>T LOVD substitution exon 1 CAPN3:c.332T>C CAPN3:c.332T>C LOVD substitution exon 1 CAPN3:c.352A>G CAPN3:c.352A>G LOVD substitution exon 1 CAPN3:c.358G>A CAPN3:c.358G>A LOVD substitution exon 1 CAPN3:c.363C>G CAPN3:c.363C>G LOVD substitution exon 1 CAPN3:c.379+423T>A CAPN3:c.379+423T>A LOVD substitution intron 1 CAPN3:c.379+432T>A CAPN3:c.379+432T>A LOVD substitution intron 1 CAPN3:c.380-27C>T CAPN3:c.380-27C>T LOVD substitution intron 1 CAPN3:c.380-2A>C CAPN3:c.380-2A>C LOVD substitution intron 1 CAPN3:c.380-52T>G CAPN3:c.380-52T>G LOVD substitution intron 1 CAPN3:c.389G>C CAPN3:c.389G>C LOVD substitution exon 1 CAPN3:c.390G>C CAPN3:c.390G>C LOVD substitution exon 1 CAPN3:c.398C>T CAPN3:c.398C>T LOVD substitution exon 1 CAPN3:c.399A>G CAPN3:c.399A>G LOVD substitution exon 1 CAPN3:c.402delC CAPN3:c.402delC LOVD deletion exon 1 CAPN3:c.409T>C CAPN3:c.409T>C LOVD substitution exon 1 CAPN3:c.413T>C CAPN3:c.413T>C LOVD substitution exon 1 CAPN3:c.416C>T CAPN3:c.416C>T LOVD substitution exon 1 CAPN3:c.418dupC CAPN3:c.418dupC LOVD duplication exon 1 CAPN3:c.424C>T CAPN3:c.424C>T LOVD substitution exon 1 CAPN3:c.440G>A CAPN3:c.440G>A LOVD substitution exon 1 CAPN3:c.440G>C CAPN3:c.440G>C LOVD substitution exon 1 CAPN3:c.477C>T CAPN3:c.477C>T LOVD substitution exon 1 CAPN3:c.478G>C CAPN3:c.478G>C LOVD substitution exon 1 CAPN3:c.479C>A CAPN3:c.479C>A LOVD substitution exon 1 CAPN3:c.479C>G CAPN3:c.479C>G LOVD substitution exon 1 CAPN3:c.483delG CAPN3:c.483delG LOVD deletion exon 1 CAPN3:c.484A>C CAPN3:c.484A>C LOVD substitution exon 1 CAPN3:c.495C>G CAPN3:c.495C>G LOVD substitution exon 1 CAPN3:c.495C>T CAPN3:c.495C>T LOVD substitution exon 1 CAPN3:c.496delC CAPN3:c.496delC LOVD deletion exon 1 CAPN3:c.498+1G>A CAPN3:c.498+1G>A LOVD substitution intron 1 CAPN3:c.498+35G>T CAPN3:c.498+35G>T LOVD substitution intron 1 CAPN3:c.498G>A CAPN3:c.498G>A LOVD substitution exon 1 CAPN3:c.499-17G>A CAPN3:c.499-17G>A LOVD substitution intron 1 CAPN3:c.499-1G>A CAPN3:c.499-1G>A LOVD substitution intron 1 CAPN3:c.499-21G>C CAPN3:c.499-21G>C LOVD substitution intron 1 CAPN3:c.502T>C CAPN3:c.502T>C LOVD substitution exon 1 CAPN3:c.505C>G CAPN3:c.505C>G LOVD substitution exon 1 CAPN3:c.505C>T CAPN3:c.505C>T LOVD substitution exon 1 CAPN3:c.506G>A CAPN3:c.506G>A LOVD substitution exon 1 CAPN3:c.509A>G CAPN3:c.509A>G LOVD substitution exon 1 CAPN3:c.509dupA CAPN3:c.509dupA LOVD duplication exon 1 CAPN3:c.510T>G CAPN3:c.510T>G LOVD substitution exon 1 CAPN3:c.527T>C CAPN3:c.527T>C LOVD substitution exon 1 CAPN3:c.533T>C CAPN3:c.533T>C LOVD substitution exon 1 CAPN3:c.535G>C CAPN3:c.535G>C LOVD substitution exon 1 CAPN3:c.539A>C CAPN3:c.539A>C LOVD substitution exon 1 CAPN3:c.545T>A CAPN3:c.545T>A LOVD substitution exon 1 CAPN3:c.548C>G CAPN3:c.548C>G LOVD substitution exon 1 CAPN3:c.548C>T CAPN3:c.548C>T LOVD substitution exon 1 CAPN3:c.550delA CAPN3:c.550delA LOVD deletion exon 1 CAPN3:c.551C>T CAPN3:c.551C>T LOVD substitution exon 1 CAPN3:c.565C>G CAPN3:c.565C>G LOVD substitution exon 1 CAPN3:c.566T>C CAPN3:c.566T>C LOVD substitution exon 1 CAPN3:c.575C>T CAPN3:c.575C>T LOVD substitution exon 1 CAPN3:c.581C>G CAPN3:c.581C>G LOVD substitution exon 1 CAPN3:c.590G>A CAPN3:c.590G>A LOVD substitution exon 1 CAPN3:c.590G>T CAPN3:c.590G>T LOVD substitution exon 1 CAPN3:c.593A>G CAPN3:c.593A>G LOVD substitution exon 1 CAPN3:c.595G>C CAPN3:c.595G>C LOVD substitution exon 1 CAPN3:c.598_612del CAPN3:c.598_612del LOVD deletion exon 1 CAPN3:c.601T>A CAPN3:c.601T>A LOVD substitution exon 1 CAPN3:c.606T>C CAPN3:c.606T>C LOVD substitution exon 1 CAPN3:c.60delA CAPN3:c.60delA LOVD deletion exon 1 CAPN3:c.610C>G CAPN3:c.610C>G LOVD substitution exon 1 CAPN3:c.616delG CAPN3:c.616delG LOVD deletion exon 1 CAPN3:c.616G>A CAPN3:c.616G>A LOVD substitution exon 1 CAPN3:c.620A>C CAPN3:c.620A>C LOVD substitution exon 1 CAPN3:c.62G>A CAPN3:c.62G>A LOVD substitution exon 1 CAPN3:c.631A>G CAPN3:c.631A>G LOVD substitution exon 1 CAPN3:c.632+1G>A CAPN3:c.632+1G>A LOVD substitution intron 1 CAPN3:c.632+1G>C CAPN3:c.632+1G>C LOVD substitution intron 1 CAPN3:c.632+3A>G CAPN3:c.632+3A>G LOVD substitution intron 1 CAPN3:c.632+404_1029+?del CAPN3:c.632+404_1029+?del LOVD deletion intron 0 CAPN3:c.632+4A>G CAPN3:c.632+4A>G LOVD substitution intron 1 CAPN3:c.633G>C CAPN3:c.633G>C LOVD substitution exon 1 CAPN3:c.633G>T CAPN3:c.633G>T LOVD substitution exon 1 CAPN3:c.637C>T CAPN3:c.637C>T LOVD substitution exon 1 CAPN3:c.638A>G CAPN3:c.638A>G LOVD substitution exon 1 CAPN3:c.640G>A CAPN3:c.640G>A LOVD substitution exon 1 CAPN3:c.643T>C CAPN3:c.643T>C LOVD substitution exon 1 CAPN3:c.643_663del CAPN3:c.643_663del LOVD deletion exon 1 CAPN3:c.649G>A CAPN3:c.649G>A LOVD substitution exon 1 CAPN3:c.662G>T CAPN3:c.662G>T LOVD substitution exon 1 CAPN3:c.664G>A CAPN3:c.664G>A LOVD substitution exon 1 CAPN3:c.674C>G CAPN3:c.674C>G LOVD substitution exon 1 CAPN3:c.676G>A CAPN3:c.676G>A LOVD substitution exon 1 CAPN3:c.689A>G CAPN3:c.689A>G LOVD substitution exon 1 CAPN3:c.695C>T CAPN3:c.695C>T LOVD substitution exon 1 CAPN3:c.697G>C CAPN3:c.697G>C LOVD substitution exon 1 CAPN3:c.698G>T CAPN3:c.698G>T LOVD substitution exon 1 CAPN3:c.701G>A CAPN3:c.701G>A LOVD substitution exon 1 CAPN3:c.703delG CAPN3:c.703delG LOVD deletion exon 1 CAPN3:c.706G>A CAPN3:c.706G>A LOVD substitution exon 1 CAPN3:c.717delT CAPN3:c.717delT LOVD deletion exon 1 CAPN3:c.717dupT CAPN3:c.717dupT LOVD duplication exon 1 CAPN3:c.724dupA CAPN3:c.724dupA LOVD duplication exon 1 CAPN3:c.739G>A CAPN3:c.739G>A LOVD substitution exon 1 CAPN3:c.743T>G CAPN3:c.743T>G LOVD substitution exon 1 CAPN3:c.747C>G CAPN3:c.747C>G LOVD substitution exon 1 CAPN3:c.755T>A CAPN3:c.755T>A LOVD substitution exon 1 CAPN3:c.755T>C CAPN3:c.755T>C LOVD substitution exon 1 CAPN3:c.755T>G CAPN3:c.755T>G LOVD substitution exon 1 CAPN3:c.759_761del CAPN3:c.759_761del LOVD deletion exon 1 CAPN3:c.760A>G CAPN3:c.760A>G LOVD substitution exon 1 CAPN3:c.763G>C CAPN3:c.763G>C LOVD substitution exon 1 CAPN3:c.769G>T CAPN3:c.769G>T LOVD substitution exon 1 CAPN3:c.779C>T CAPN3:c.779C>T LOVD substitution exon 1 CAPN3:c.77C>T CAPN3:c.77C>T LOVD substitution exon 1 CAPN3:c.788G>A CAPN3:c.788G>A LOVD substitution exon 1 CAPN3:c.791G>A CAPN3:c.791G>A LOVD substitution exon 1 CAPN3:c.798T>C CAPN3:c.798T>C LOVD substitution exon 1 CAPN3:c.801+1G>A CAPN3:c.801+1G>A LOVD substitution intron 1 CAPN3:c.802-9G>A CAPN3:c.802-9G>A LOVD substitution intron 1 CAPN3:c.802-?_945+?del CAPN3:c.802-?_945+?del LOVD deletion not within known transcription unit 0 CAPN3:c.817A>G CAPN3:c.817A>G LOVD substitution exon 1 CAPN3:c.822T>G CAPN3:c.822T>G LOVD substitution exon 1 CAPN3:c.847A>G CAPN3:c.847A>G LOVD substitution exon 1 CAPN3:c.848T>C CAPN3:c.848T>C LOVD substitution exon 1 CAPN3:c.865C>T CAPN3:c.865C>T LOVD substitution exon 1 CAPN3:c.883_886delinsCTT CAPN3:c.883_886delinsCTT LOVD complex exon 1 CAPN3:c.887delA CAPN3:c.887delA LOVD deletion exon 1 CAPN3:c.898C>T CAPN3:c.898C>T LOVD substitution exon 1 CAPN3:c.8C>A CAPN3:c.8C>A LOVD substitution exon 1 CAPN3:c.945+14C>T CAPN3:c.945+14C>T LOVD substitution intron 1 CAPN3:c.945+1delG CAPN3:c.945+1delG LOVD deletion intron 1 CAPN3:c.945+56C>T CAPN3:c.945+56C>T LOVD substitution intron 1 CAPN3:c.945+5G>A CAPN3:c.945+5G>A LOVD substitution intron 1 CAPN3:c.945+91C>T CAPN3:c.945+91C>T LOVD substitution intron 1 CAPN3:c.946-1G>A CAPN3:c.946-1G>A LOVD substitution intron 1 CAPN3:c.946-2A>G CAPN3:c.946-2A>G LOVD substitution intron 1 CAPN3:c.956C>T CAPN3:c.956C>T LOVD substitution exon 1 CAPN3:c.958G>T CAPN3:c.958G>T LOVD substitution exon 1 CAPN3:c.964T>C CAPN3:c.964T>C LOVD substitution exon 1 CAPN3:c.966T>A CAPN3:c.966T>A LOVD substitution exon 1 CAPN3:c.967G>T CAPN3:c.967G>T LOVD substitution exon 1 CAPN3:c.96T>C CAPN3:c.96T>C LOVD substitution exon 1 CAPN3:c.984C>A CAPN3:c.984C>A LOVD substitution exon 1 CAPN3:c.984C>T CAPN3:c.984C>T LOVD substitution exon 1 CAPN3:c.985G>A CAPN3:c.985G>A LOVD substitution exon 1 CAPN3:c.998G>A CAPN3:c.998G>A LOVD substitution exon 1 CAPN3:c.9C>T CAPN3:c.9C>T LOVD substitution exon 1 CAV3:c.*543T>C CAV3:c.*543T>C LOVD substitution not within known transcription unit 1 CAV3:c.*645A>T CAV3:c.*645A>T LOVD substitution not within known transcription unit 1 CAV3:c.*740C>G CAV3:c.*740C>G LOVD substitution not within known transcription unit 1 CAV3:c.*783A>G CAV3:c.*783A>G LOVD substitution not within known transcription unit 1 CAV3:c.*811C>G CAV3:c.*811C>G LOVD substitution not within known transcription unit 1 CAV3:c.*932T>A CAV3:c.*932T>A LOVD substitution not within known transcription unit 1 CAV3:c.*937C>A CAV3:c.*937C>A LOVD substitution not within known transcription unit 1 CAV3:c.-106G>A CAV3:c.-106G>A LOVD substitution not within known transcription unit 1 CAV3:c.-122C>T CAV3:c.-122C>T LOVD substitution not within known transcription unit 1 CAV3:c.-37G>A CAV3:c.-37G>A LOVD substitution not within known transcription unit 1 CAV3:c.100G>A CAV3:c.100G>A LOVD substitution exon 1 CAV3:c.114+26G>A CAV3:c.114+26G>A LOVD substitution intron 1 CAV3:c.114+2T>C CAV3:c.114+2T>C LOVD substitution intron 1 CAV3:c.114+99T>C CAV3:c.114+99T>C LOVD substitution intron 1 CAV3:c.115-23G>C CAV3:c.115-23G>C LOVD substitution intron 1 CAV3:c.115-45_115-29del CAV3:c.115-45_115-29del LOVD deletion intron 1 CAV3:c.115-89G>T CAV3:c.115-89G>T LOVD substitution intron 1 CAV3:c.123T>C CAV3:c.123T>C LOVD substitution exon 1 CAV3:c.131T>A CAV3:c.131T>A LOVD substitution exon 1 CAV3:c.136G>A CAV3:c.136G>A LOVD substitution exon 1 CAV3:c.136G>T CAV3:c.136G>T LOVD substitution exon 1 CAV3:c.137C>A CAV3:c.137C>A LOVD substitution exon 1 CAV3:c.137C>T CAV3:c.137C>T LOVD substitution exon 1 CAV3:c.139G>A CAV3:c.139G>A LOVD substitution exon 1 CAV3:c.140A>C CAV3:c.140A>C LOVD substitution exon 1 CAV3:c.141G>T CAV3:c.141G>T LOVD substitution exon 1 CAV3:c.157A>G CAV3:c.157A>G LOVD substitution exon 1 CAV3:c.158G>A CAV3:c.158G>A LOVD substitution exon 1 CAV3:c.166G>A CAV3:c.166G>A LOVD substitution exon 1 CAV3:c.168C>A CAV3:c.168C>A LOVD substitution exon 1 CAV3:c.169G>A CAV3:c.169G>A LOVD substitution exon 1 CAV3:c.170T>G CAV3:c.170T>G LOVD substitution exon 1 CAV3:c.171G>A CAV3:c.171G>A LOVD substitution exon 1 CAV3:c.172T>C CAV3:c.172T>C LOVD substitution exon 1 CAV3:c.183C>A CAV3:c.183C>A LOVD substitution exon 1 CAV3:c.189_197del CAV3:c.189_197del LOVD deletion exon 1 CAV3:c.190A>C CAV3:c.190A>C LOVD substitution exon 1 CAV3:c.191C>G CAV3:c.191C>G LOVD substitution exon 1 CAV3:c.204C>A CAV3:c.204C>A LOVD substitution exon 1 CAV3:c.212G>A CAV3:c.212G>A LOVD substitution exon 1 CAV3:c.216C>G CAV3:c.216C>G LOVD substitution exon 1 CAV3:c.218A>G CAV3:c.218A>G LOVD substitution exon 1 CAV3:c.233C>T CAV3:c.233C>T LOVD substitution exon 1 CAV3:c.236T>G CAV3:c.236T>G LOVD substitution exon 1 CAV3:c.253G>A CAV3:c.253G>A LOVD substitution exon 1 CAV3:c.260T>C CAV3:c.260T>C LOVD substitution exon 1 CAV3:c.277G>A CAV3:c.277G>A LOVD substitution exon 1 CAV3:c.27C>T CAV3:c.27C>T LOVD substitution exon 1 CAV3:c.290T>G CAV3:c.290T>G LOVD substitution exon 1 CAV3:c.290_292del CAV3:c.290_292del LOVD deletion exon 1 CAV3:c.298A>T CAV3:c.298A>T LOVD substitution exon 1 CAV3:c.301T>C CAV3:c.301T>C LOVD substitution exon 1 CAV3:c.307_312del CAV3:c.307_312del LOVD deletion exon 1 CAV3:c.314C>T CAV3:c.314C>T LOVD substitution exon 1 CAV3:c.377G>A CAV3:c.377G>A LOVD substitution exon 1 CAV3:c.40G>C CAV3:c.40G>C LOVD substitution exon 1 CAV3:c.423C>G CAV3:c.423C>G LOVD substitution exon 1 CAV3:c.79C>G CAV3:c.79C>G LOVD substitution exon 1 CAV3:c.80G>A CAV3:c.80G>A LOVD substitution exon 1 CAV3:c.80G>C CAV3:c.80G>C LOVD substitution exon 1 CAV3:c.84C>A CAV3:c.84C>A LOVD substitution exon 1 CAV3:c.85C>A CAV3:c.85C>A LOVD substitution exon 1 CAV3:c.86C>T CAV3:c.86C>T LOVD substitution exon 1 CAV3:c.99C>G CAV3:c.99C>G LOVD substitution exon 1 CAV3:c.99C>T CAV3:c.99C>T LOVD substitution exon 1 CFL2:c.*1682A>T CFL2:c.*1682A>T LOVD substitution not within known transcription unit 1 CFL2:c.*1905A>G CFL2:c.*1905A>G LOVD substitution not within known transcription unit 1 CFL2:c.*2038G>T CFL2:c.*2038G>T LOVD substitution not within known transcription unit 1 CFL2:c.*285A>G CFL2:c.*285A>G LOVD substitution not within known transcription unit 1 CFL2:c.*806C>T CFL2:c.*806C>T LOVD substitution not within known transcription unit 1 CFL2:c.-241C>A CFL2:c.-241C>A LOVD substitution not within known transcription unit 1 CFL2:c.-297dup CFL2:c.-297dup LOVD duplication not within known transcription unit 1 CFL2:c.103G>A CFL2:c.103G>A LOVD substitution exon 1 CFL2:c.3+99C>T CFL2:c.3+99C>T LOVD substitution intron 1 CFL2:c.311+51_311+53del CFL2:c.311+51_311+53del LOVD deletion intron 1 COL6A1:c.1003-3C>A COL6A1:c.1003-3C>A LOVD substitution intron 1 COL6A1:c.1022G>A COL6A1:c.1022G>A LOVD substitution exon 1 COL6A1:c.1022G>T COL6A1:c.1022G>T LOVD substitution exon 1 COL6A1:c.1056+1delG COL6A1:c.1056+1delG LOVD deletion intron 1 COL6A1:c.1056+1G>A COL6A1:c.1056+1G>A LOVD substitution intron 1 COL6A1:c.1056+2T>C COL6A1:c.1056+2T>C LOVD substitution intron 1 COL6A1:c.1095T>C COL6A1:c.1095T>C LOVD substitution exon 1 COL6A1:c.1184G>T COL6A1:c.1184G>T LOVD substitution exon 1 COL6A1:c.1336-17G>A COL6A1:c.1336-17G>A LOVD substitution intron 1 COL6A1:c.1465delG COL6A1:c.1465delG LOVD deletion exon 1 COL6A1:c.1712A>C COL6A1:c.1712A>C LOVD substitution exon 1 COL6A1:c.1776+1G>A COL6A1:c.1776+1G>A LOVD substitution intron 1 COL6A1:c.1823-8G>A COL6A1:c.1823-8G>A LOVD substitution intron 1 COL6A1:c.1977C>G COL6A1:c.1977C>G LOVD substitution exon 1 COL6A1:c.2045G>A COL6A1:c.2045G>A LOVD substitution exon 1 COL6A1:c.235C>T COL6A1:c.235C>T LOVD substitution exon 1 COL6A1:c.2424G>T COL6A1:c.2424G>T LOVD substitution exon 1 COL6A1:c.2512G>A COL6A1:c.2512G>A LOVD substitution exon 1 COL6A1:c.2549G>A COL6A1:c.2549G>A LOVD substitution exon 1 COL6A1:c.2667G>A COL6A1:c.2667G>A LOVD substitution exon 1 COL6A1:c.2669C>T COL6A1:c.2669C>T LOVD substitution exon 1 COL6A1:c.2670G>A COL6A1:c.2670G>A LOVD substitution exon 1 COL6A1:c.2796C>T COL6A1:c.2796C>T LOVD substitution exon 1 COL6A1:c.347G>A COL6A1:c.347G>A LOVD substitution exon 1 COL6A1:c.362A>G COL6A1:c.362A>G LOVD substitution exon 1 COL6A1:c.428+1G>A COL6A1:c.428+1G>A LOVD substitution intron 1 COL6A1:c.739-1G>A COL6A1:c.739-1G>A LOVD substitution intron 1 COL6A1:c.739-2A>G COL6A1:c.739-2A>G LOVD substitution intron 1 COL6A1:c.804+249_973delins6 COL6A1:c.804+249_973delins6 LOVD complex intron 1 COL6A1:c.805-2A>G COL6A1:c.805-2A>G LOVD substitution intron 1 COL6A1:c.805-572_903+7del COL6A1:c.805-572_903+7del LOVD deletion intron 1 COL6A1:c.805-639_1003-16del COL6A1:c.805-639_1003-16del LOVD deletion intron 1 COL6A1:c.805G>A COL6A1:c.805G>A LOVD substitution exon 1 COL6A1:c.815G>A COL6A1:c.815G>A LOVD substitution exon 1 COL6A1:c.821C>T COL6A1:c.821C>T LOVD substitution exon 1 COL6A1:c.823G>A COL6A1:c.823G>A LOVD substitution exon 1 COL6A1:c.841G>A COL6A1:c.841G>A LOVD substitution exon 1 COL6A1:c.842G>A COL6A1:c.842G>A LOVD substitution exon 1 COL6A1:c.850G>A COL6A1:c.850G>A LOVD substitution exon 1 COL6A1:c.857delC COL6A1:c.857delC LOVD deletion exon 1 COL6A1:c.859-1G>C COL6A1:c.859-1G>C LOVD substitution intron 1 COL6A1:c.859-2A>C COL6A1:c.859-2A>C LOVD substitution intron 1 COL6A1:c.860G>A COL6A1:c.860G>A LOVD substitution exon 1 COL6A1:c.868G>A COL6A1:c.868G>A LOVD substitution exon 1 COL6A1:c.868G>C COL6A1:c.868G>C LOVD substitution exon 1 COL6A1:c.869G>A COL6A1:c.869G>A LOVD substitution exon 1 COL6A1:c.914G>T COL6A1:c.914G>T LOVD substitution exon 1 COL6A1:c.928_930del COL6A1:c.928_930del LOVD deletion exon 1 COL6A1:c.930+2T>G COL6A1:c.930+2T>G LOVD substitution intron 1 COL6A1:c.931-1G>A COL6A1:c.931-1G>A LOVD substitution intron 1 COL6A1:c.957+1G>A COL6A1:c.957+1G>A LOVD substitution intron 1 COL6A2:c.*102C>G COL6A2:c.*102C>G LOVD substitution not within known transcription unit 1 COL6A2:c.*56T>G COL6A2:c.*56T>G LOVD substitution not within known transcription unit 1 COL6A2:c.1000-2A>G COL6A2:c.1000-2A>G LOVD substitution intron 1 COL6A2:c.1053+1G>C COL6A2:c.1053+1G>C LOVD substitution intron 1 COL6A2:c.1117-10A>G COL6A2:c.1117-10A>G LOVD substitution intron 1 COL6A2:c.1151dupC COL6A2:c.1151dupC LOVD duplication exon 1 COL6A2:c.1196A>G COL6A2:c.1196A>G LOVD substitution exon 1 COL6A2:c.1270-1G>C COL6A2:c.1270-1G>C LOVD substitution intron 1 COL6A2:c.1353G>C COL6A2:c.1353G>C LOVD substitution exon 1 COL6A2:c.1459-2A>G COL6A2:c.1459-2A>G LOVD substitution intron 1 COL6A2:c.1488_1513del COL6A2:c.1488_1513del LOVD deletion exon 1 COL6A2:c.1493G>A COL6A2:c.1493G>A LOVD substitution exon 1 COL6A2:c.1552C>T COL6A2:c.1552C>T LOVD substitution exon 1 COL6A2:c.1591G>C COL6A2:c.1591G>C LOVD substitution exon 1 COL6A2:c.1770+1delG COL6A2:c.1770+1delG LOVD deletion intron 1 COL6A2:c.1770+5G>A COL6A2:c.1770+5G>A LOVD substitution intron 1 COL6A2:c.1771-1G>A COL6A2:c.1771-1G>A LOVD substitution intron 1 COL6A2:c.1771-3C>G COL6A2:c.1771-3C>G LOVD substitution intron 1 COL6A2:c.1817-3C>G COL6A2:c.1817-3C>G LOVD substitution intron 1 COL6A2:c.1817-3dupC COL6A2:c.1817-3dupC LOVD duplication intron 1 COL6A2:c.1861G>A COL6A2:c.1861G>A LOVD substitution exon 1 COL6A2:c.1905_1907del COL6A2:c.1905_1907del LOVD deletion exon 1 COL6A2:c.1970-3C>A COL6A2:c.1970-3C>A LOVD substitution intron 1 COL6A2:c.1970-9G>A COL6A2:c.1970-9G>A LOVD substitution intron 1 COL6A2:c.2039G>A COL6A2:c.2039G>A LOVD substitution exon 1 COL6A2:c.2094G>A COL6A2:c.2094G>A LOVD substitution exon 1 COL6A2:c.2097C>T COL6A2:c.2097C>T LOVD substitution exon 1 COL6A2:c.2098G>A COL6A2:c.2098G>A LOVD substitution exon 1 COL6A2:c.2175_2176del COL6A2:c.2175_2176del LOVD deletion exon 1 COL6A2:c.2184G>A COL6A2:c.2184G>A LOVD substitution exon 1 COL6A2:c.2274_2279del COL6A2:c.2274_2279del LOVD deletion exon 1 COL6A2:c.2319C>G COL6A2:c.2319C>G LOVD substitution exon 1 COL6A2:c.2329T>C COL6A2:c.2329T>C LOVD substitution exon 1 COL6A2:c.2351G>A COL6A2:c.2351G>A LOVD substitution exon 1 COL6A2:c.2386A>T COL6A2:c.2386A>T LOVD substitution exon 1 COL6A2:c.2422+1G>A COL6A2:c.2422+1G>A LOVD substitution intron 1 COL6A2:c.2423-1G>C COL6A2:c.2423-1G>C LOVD substitution intron 1 COL6A2:c.2423-2A>G COL6A2:c.2423-2A>G LOVD substitution intron 1 COL6A2:c.2455_2461+37delins33 COL6A2:c.2455_2461+37delins33 LOVD complex not within known transcription unit 1 COL6A2:c.2510T>C COL6A2:c.2510T>C LOVD substitution exon 1 COL6A2:c.2558G>A COL6A2:c.2558G>A LOVD substitution exon 1 COL6A2:c.2626C>A COL6A2:c.2626C>A LOVD substitution exon 1 COL6A2:c.2663_2664dup COL6A2:c.2663_2664dup LOVD duplication exon 1 COL6A2:c.2683A>C COL6A2:c.2683A>C LOVD substitution exon 1 COL6A2:c.2689_2691del COL6A2:c.2689_2691del LOVD deletion exon 1 COL6A2:c.2697G>T COL6A2:c.2697G>T LOVD substitution exon 1 COL6A2:c.2724A>G COL6A2:c.2724A>G LOVD substitution exon 1 COL6A2:c.2795C>T COL6A2:c.2795C>T LOVD substitution exon 1 COL6A2:c.2979C>T COL6A2:c.2979C>T LOVD substitution exon 1 COL6A2:c.641_645del COL6A2:c.641_645del LOVD deletion exon 1 COL6A2:c.679G>A COL6A2:c.679G>A LOVD substitution exon 1 COL6A2:c.688_689dup COL6A2:c.688_689dup LOVD duplication exon 1 COL6A2:c.777C>G COL6A2:c.777C>G LOVD substitution exon 1 COL6A2:c.801+631_882del COL6A2:c.801+631_882del LOVD deletion intron 1 COL6A2:c.802G>A COL6A2:c.802G>A LOVD substitution exon 1 COL6A2:c.802G>T COL6A2:c.802G>T LOVD substitution exon 1 COL6A2:c.811G>A COL6A2:c.811G>A LOVD substitution exon 1 COL6A2:c.847G>A COL6A2:c.847G>A LOVD substitution exon 1 COL6A2:c.856-3C>G COL6A2:c.856-3C>G LOVD substitution intron 1 COL6A2:c.900+1G>A COL6A2:c.900+1G>A LOVD substitution intron 1 COL6A2:c.901G>A COL6A2:c.901G>A LOVD substitution exon 1 COL6A2:c.955-2A>G COL6A2:c.955-2A>G LOVD substitution intron 1 COL6A3:c.1313-42G>A COL6A3:c.1313-42G>A LOVD substitution intron 1 COL6A3:c.1389C>T COL6A3:c.1389C>T LOVD substitution exon 1 COL6A3:c.1393C>T COL6A3:c.1393C>T LOVD substitution exon 1 COL6A3:c.2030G>A COL6A3:c.2030G>A LOVD substitution exon 1 COL6A3:c.3040A>G COL6A3:c.3040A>G LOVD substitution exon 1 COL6A3:c.3129C>T COL6A3:c.3129C>T LOVD substitution exon 1 COL6A3:c.3191G>A COL6A3:c.3191G>A LOVD substitution exon 1 COL6A3:c.4156G>A COL6A3:c.4156G>A LOVD substitution exon 1 COL6A3:c.4184G>A COL6A3:c.4184G>A LOVD substitution exon 1 COL6A3:c.4217C>T COL6A3:c.4217C>T LOVD substitution exon 1 COL6A3:c.4311T>C COL6A3:c.4311T>C LOVD substitution exon 1 COL6A3:c.4533G>T COL6A3:c.4533G>T LOVD substitution exon 1 COL6A3:c.4727G>A COL6A3:c.4727G>A LOVD substitution exon 1 COL6A3:c.5020G>A COL6A3:c.5020G>A LOVD substitution exon 1 COL6A3:c.5036G>A COL6A3:c.5036G>A LOVD substitution exon 1 COL6A3:c.5177T>G COL6A3:c.5177T>G LOVD substitution exon 1 COL6A3:c.5953G>A COL6A3:c.5953G>A LOVD substitution exon 1 COL6A3:c.6140G>A COL6A3:c.6140G>A LOVD substitution exon 1 COL6A3:c.6157-8_6178del COL6A3:c.6157-8_6178del LOVD deletion intron 1 COL6A3:c.6166G>A COL6A3:c.6166G>A LOVD substitution exon 1 COL6A3:c.6185G>A COL6A3:c.6185G>A LOVD substitution exon 1 COL6A3:c.6210+1G>A COL6A3:c.6210+1G>A LOVD substitution intron 1 COL6A3:c.6210+1_6210+2delinsTC COL6A3:c.6210+1_6210+2delinsTC LOVD complex intron 1 COL6A3:c.6239G>A COL6A3:c.6239G>A LOVD substitution exon 1 COL6A3:c.6247G>T COL6A3:c.6247G>T LOVD substitution exon 1 COL6A3:c.6283-2A>G COL6A3:c.6283-2A>G LOVD substitution intron 1 COL6A3:c.6310-2A>G COL6A3:c.6310-2A>G LOVD substitution intron 1 COL6A3:c.6369G>A COL6A3:c.6369G>A LOVD substitution exon 1 COL6A3:c.6472-2A>G COL6A3:c.6472-2A>G LOVD substitution intron 1 COL6A3:c.6816G>A COL6A3:c.6816G>A LOVD substitution exon 1 COL6A3:c.6855G>C COL6A3:c.6855G>C LOVD substitution exon 1 COL6A3:c.6930+5G>A COL6A3:c.6930+5G>A LOVD substitution intron 1 COL6A3:c.6945C>T COL6A3:c.6945C>T LOVD substitution exon 1 COL6A3:c.7024C>T COL6A3:c.7024C>T LOVD substitution exon 1 COL6A3:c.7162+2dupT COL6A3:c.7162+2dupT LOVD duplication intron 1 COL6A3:c.7292A>T COL6A3:c.7292A>T LOVD substitution exon 1 COL6A3:c.7357G>A COL6A3:c.7357G>A LOVD substitution exon 1 COL6A3:c.7509G>A COL6A3:c.7509G>A LOVD substitution exon 1 COL6A3:c.7596G>A COL6A3:c.7596G>A LOVD substitution exon 1 COL6A3:c.7842C>T COL6A3:c.7842C>T LOVD substitution exon 1 COL6A3:c.7929G>A COL6A3:c.7929G>A LOVD substitution exon 1 COL6A3:c.7980C>T COL6A3:c.7980C>T LOVD substitution exon 1 COL6A3:c.8451A>G COL6A3:c.8451A>G LOVD substitution exon 1 COL6A3:c.8491G>C COL6A3:c.8491G>C LOVD substitution exon 1 COL6A3:c.8780T>C COL6A3:c.8780T>C LOVD substitution exon 1 COL6A3:c.8820G>A COL6A3:c.8820G>A LOVD substitution exon 1 COL6A3:c.8822C>T COL6A3:c.8822C>T LOVD substitution exon 1 COL6A3:c.8877_8879del COL6A3:c.8877_8879del LOVD deletion exon 1 COL6A3:c.8962A>G COL6A3:c.8962A>G LOVD substitution exon 1 COL6A3:c.9034G>C COL6A3:c.9034G>C LOVD substitution exon 1 COL6A3:c.9206C>T COL6A3:c.9206C>T LOVD substitution exon 1 COL6A3:c.9213C>T COL6A3:c.9213C>T LOVD substitution exon 1 DAG1:c.(575C>T) DAG1:c.(575C>T) LOVD substitution exon 1 DAG1:c.*1508A>G DAG1:c.*1508A>G LOVD substitution not within known transcription unit 1 DAG1:c.*2262T>C DAG1:c.*2262T>C LOVD substitution not within known transcription unit 1 DAG1:c.*250T>C DAG1:c.*250T>C LOVD substitution not within known transcription unit 1 DAG1:c.*830G>T DAG1:c.*830G>T LOVD substitution not within known transcription unit 1 DAG1:c.-116-291T>G DAG1:c.-116-291T>G LOVD substitution not within known transcription unit 1 DAG1:c.1773C>T DAG1:c.1773C>T LOVD substitution exon 1 DAG1:c.2256C>T DAG1:c.2256C>T LOVD substitution exon 1 DAG1:c.285+42T>C DAG1:c.285+42T>C LOVD substitution intron 1 DAG1:c.286-135G>A DAG1:c.286-135G>A LOVD substitution intron 1 DAG1:c.41G>C DAG1:c.41G>C LOVD substitution exon 1 DAG1:c.575C>T DAG1:c.575C>T LOVD substitution exon 1 DES:c.1009G>C DES:c.1009G>C LOVD substitution exon 1 DES:c.1013T>G DES:c.1013T>G LOVD substitution exon 1 DES:c.1014G>C DES:c.1014G>C LOVD substitution exon 1 DES:c.1024A>G DES:c.1024A>G LOVD substitution exon 1 DES:c.1034T>C DES:c.1034T>C LOVD substitution exon 1 DES:c.1048C>T DES:c.1048C>T LOVD substitution exon 1 DES:c.1049G>C DES:c.1049G>C LOVD substitution exon 1 DES:c.1064G>C DES:c.1064G>C LOVD substitution exon 1 DES:c.1069G>C DES:c.1069G>C LOVD substitution exon 1 DES:c.1076_1084del DES:c.1076_1084del LOVD deletion exon 1 DES:c.1078G>C DES:c.1078G>C LOVD substitution exon 1 DES:c.1097_1099del DES:c.1097_1099del LOVD deletion exon 1 DES:c.1099A>T DES:c.1099A>T LOVD substitution exon 1 DES:c.1104G>A DES:c.1104G>A LOVD substitution exon 1 DES:c.1109T>C DES:c.1109T>C LOVD substitution exon 1 DES:c.1154T>C DES:c.1154T>C LOVD substitution exon 1 DES:c.1166A>C DES:c.1166A>C LOVD substitution exon 1 DES:c.1175T>C DES:c.1175T>C LOVD substitution exon 1 DES:c.1178A>T DES:c.1178A>T LOVD substitution exon 1 DES:c.1195G>T DES:c.1195G>T LOVD substitution exon 1 DES:c.1201G>A DES:c.1201G>A LOVD substitution exon 1 DES:c.1216C>T DES:c.1216C>T LOVD substitution exon 1 DES:c.1222C>T DES:c.1222C>T LOVD substitution exon 1 DES:c.1237G>A DES:c.1237G>A LOVD substitution exon 1 DES:c.1255C>T DES:c.1255C>T LOVD substitution exon 1 DES:c.1325C>T DES:c.1325C>T LOVD substitution exon 1 DES:c.1346A>C DES:c.1346A>C LOVD substitution exon 1 DES:c.1346A>T DES:c.1346A>T LOVD substitution exon 1 DES:c.1353C>G DES:c.1353C>G LOVD substitution exon 1 DES:c.1358C>T DES:c.1358C>T LOVD substitution exon 1 DES:c.1360C>T DES:c.1360C>T LOVD substitution exon 1 DES:c.1375G>A DES:c.1375G>A LOVD substitution exon 1 DES:c.1379G>T DES:c.1379G>T LOVD substitution exon 1 DES:c.137C>A DES:c.137C>A LOVD substitution exon 1 DES:c.137C>T DES:c.137C>T LOVD substitution exon 1 DES:c.1405G>A DES:c.1405G>A LOVD substitution exon 1 DES:c.322G>A DES:c.322G>A LOVD substitution exon 1 DES:c.38C>T DES:c.38C>T LOVD substitution exon 1 DES:c.408C>T DES:c.408C>T LOVD substitution exon 1 DES:c.46C>T DES:c.46C>T LOVD substitution exon 1 DES:c.521_541del DES:c.521_541del LOVD deletion exon 1 DES:c.5G>T DES:c.5G>T LOVD substitution exon 1 DES:c.638C>T DES:c.638C>T LOVD substitution exon 1 DES:c.640-1G>A DES:c.640-1G>A LOVD substitution intron 1 DES:c.640-2A>T DES:c.640-2A>T LOVD substitution intron 1 DES:c.641A>T DES:c.641A>T LOVD substitution exon 1 DES:c.719dupA DES:c.719dupA LOVD duplication exon 1 DES:c.735+1G>A DES:c.735+1G>A LOVD substitution intron 1 DES:c.735+2_735+11del DES:c.735+2_735+11del LOVD deletion intron 1 DES:c.735+3A>G DES:c.735+3A>G LOVD substitution intron 1 DES:c.735G>C DES:c.735G>C LOVD substitution exon 1 DES:c.828C>T DES:c.828C>T LOVD substitution exon 1 DES:c.893C>T DES:c.893C>T LOVD substitution exon 1 DES:c.934G>A DES:c.934G>A LOVD substitution exon 1 DMD:c.(10094C>A) DMD:c.(10094C>A) LOVD substitution exon 1 DMD:c.(10108C>T) DMD:c.(10108C>T) LOVD substitution exon 1 DMD:c.(10141C>T) DMD:c.(10141C>T) LOVD substitution exon 1 DMD:c.(10493T>A) DMD:c.(10493T>A) LOVD substitution exon 1 DMD:c.(1062G>A) DMD:c.(1062G>A) LOVD substitution exon 1 DMD:c.(1324C>T) DMD:c.(1324C>T) LOVD substitution exon 1 DMD:c.(133C>T) DMD:c.(133C>T) LOVD substitution exon 1 DMD:c.(1465C>T) DMD:c.(1465C>T) LOVD substitution exon 1 DMD:c.(1635A>G) DMD:c.(1635A>G) LOVD substitution exon 1 DMD:c.(163G>T) DMD:c.(163G>T) LOVD substitution exon 1 DMD:c.(1873C>T) DMD:c.(1873C>T) LOVD substitution exon 1 DMD:c.(2276T>G) DMD:c.(2276T>G) LOVD substitution exon 1 DMD:c.(2281G>T) DMD:c.(2281G>T) LOVD substitution exon 1 DMD:c.(2293-517delA) DMD:c.(2293-517delA) LOVD deletion intron 1 DMD:c.(2622+35A>G)? DMD:c.(2622+35A>G)? LOVD substitution intron 0 DMD:c.(2645G>A) DMD:c.(2645G>A) LOVD substitution exon 1 DMD:c.(265-463A>G)? DMD:c.(265-463A>G)? LOVD substitution intron 0 DMD:c.(2797C>T) DMD:c.(2797C>T) LOVD substitution exon 1 DMD:c.(32-2718_93+9729dup) DMD:c.(32-2718_93+9729dup) LOVD duplication intron 1 DMD:c.(3328G>T) DMD:c.(3328G>T) LOVD substitution exon 1 DMD:c.(3609_3612delinsCTT) DMD:c.(3609_3612delinsCTT) LOVD complex exon 1 DMD:c.(3922-2G>T)? DMD:c.(3922-2G>T)? LOVD substitution intron 0 DMD:c.(4099C>T) DMD:c.(4099C>T) LOVD substitution exon 1 DMD:c.(4233+30T>A)? DMD:c.(4233+30T>A)? LOVD substitution intron 0 DMD:c.(4234-11A>G)? DMD:c.(4234-11A>G)? LOVD substitution intron 0 DMD:c.(4275A>G) DMD:c.(4275A>G) LOVD substitution exon 1 DMD:c.(4279C>T)? DMD:c.(4279C>T)? LOVD substitution exon 0 DMD:c.(4518+636A>T)? DMD:c.(4518+636A>T)? LOVD substitution intron 0 DMD:c.(4638delA) DMD:c.(4638delA) LOVD deletion exon 1 DMD:c.(4729C>T) DMD:c.(4729C>T) LOVD substitution exon 1 DMD:c.(5026-63T>A) DMD:c.(5026-63T>A) LOVD substitution intron 1 DMD:c.(5031C>A) DMD:c.(5031C>A) LOVD substitution exon 1 DMD:c.(5154+14A>G)? DMD:c.(5154+14A>G)? LOVD substitution intron 0 DMD:c.(5234G>A) DMD:c.(5234G>A) LOVD substitution exon 1 DMD:c.(5476G>T) DMD:c.(5476G>T) LOVD substitution exon 1 DMD:c.(5503delC) DMD:c.(5503delC) LOVD deletion exon 1 DMD:c.(5586+18G>A)? DMD:c.(5586+18G>A)? LOVD substitution intron 0 DMD:c.(5653C>T) DMD:c.(5653C>T) LOVD substitution exon 1 DMD:c.(5662delG) DMD:c.(5662delG) LOVD deletion exon 1 DMD:c.(583C>T) DMD:c.(583C>T) LOVD substitution exon 1 DMD:c.(5985T>G) DMD:c.(5985T>G) LOVD substitution exon 1 DMD:c.(6143G>A) DMD:c.(6143G>A) LOVD substitution exon 1 DMD:c.(6283C>T) DMD:c.(6283C>T) LOVD substitution exon 1 DMD:c.(6292C>T) DMD:c.(6292C>T) LOVD substitution exon 1 DMD:c.(6463C>T) DMD:c.(6463C>T) LOVD substitution exon 1 DMD:c.(6614+3313G>T)? DMD:c.(6614+3313G>T)? LOVD substitution intron 0 DMD:c.(6805C>A) DMD:c.(6805C>A) LOVD substitution exon 1 DMD:c.(6905G>A) DMD:c.(6905G>A) LOVD substitution exon 1 DMD:c.(7096C>A) DMD:c.(7096C>A) LOVD substitution exon 1 DMD:c.(7098+4A>C)? DMD:c.(7098+4A>C)? LOVD substitution intron 0 DMD:c.(721C>T) DMD:c.(721C>T) LOVD substitution exon 1 DMD:c.(7309+5G>T) DMD:c.(7309+5G>T) LOVD substitution intron 1 DMD:c.(7657C>T) DMD:c.(7657C>T) LOVD substitution exon 1 DMD:c.(7728T>C) DMD:c.(7728T>C) LOVD substitution exon 1 DMD:c.(802T>C) DMD:c.(802T>C) LOVD substitution exon 1 DMD:c.(8198_8199del) DMD:c.(8198_8199del) LOVD deletion exon 1 DMD:c.(8374A>T) DMD:c.(8374A>T) LOVD substitution exon 1 DMD:c.(837G>A) DMD:c.(837G>A) LOVD substitution exon 1 DMD:c.(8608C>T) DMD:c.(8608C>T) LOVD substitution exon 1 DMD:c.(8826delC) DMD:c.(8826delC) LOVD deletion exon 1 DMD:c.(8947G>T) DMD:c.(8947G>T) LOVD substitution exon 1 DMD:c.(9163+15T>C)? DMD:c.(9163+15T>C)? LOVD substitution intron 0 DMD:c.(9182G>A) DMD:c.(9182G>A) LOVD substitution exon 1 DMD:c.(9568C>T) DMD:c.(9568C>T) LOVD substitution exon 1 DMD:c.*1046_*1048dup DMD:c.*1046_*1048dup LOVD duplication not within known transcription unit 1 DMD:c.*1049delT DMD:c.*1049delT LOVD deletion not within known transcription unit 1 DMD:c.*1049_*1052del DMD:c.*1049_*1052del LOVD deletion not within known transcription unit 1 DMD:c.*1049_*1052dup DMD:c.*1049_*1052dup LOVD duplication not within known transcription unit 1 DMD:c.*1242_*1245dup DMD:c.*1242_*1245dup LOVD duplication not within known transcription unit 1 DMD:c.*132552G>A DMD:c.*132552G>A LOVD substitution not within known transcription unit 1 DMD:c.*1447A>G DMD:c.*1447A>G LOVD substitution not within known transcription unit 1 DMD:c.*1562_*1565dup DMD:c.*1562_*1565dup LOVD duplication not within known transcription unit 1 DMD:c.*1568_*1571dup DMD:c.*1568_*1571dup LOVD duplication not within known transcription unit 1 DMD:c.*1588_*1591dup DMD:c.*1588_*1591dup LOVD duplication not within known transcription unit 1 DMD:c.*169A>C DMD:c.*169A>C LOVD substitution not within known transcription unit 1 DMD:c.*1755_*1759del DMD:c.*1755_*1759del LOVD deletion not within known transcription unit 1 DMD:c.*1759delT DMD:c.*1759delT LOVD deletion not within known transcription unit 1 DMD:c.*1762delA DMD:c.*1762delA LOVD deletion not within known transcription unit 1 DMD:c.*1783A>G DMD:c.*1783A>G LOVD substitution not within known transcription unit 1 DMD:c.*1903_*1906del DMD:c.*1903_*1906del LOVD deletion not within known transcription unit 1 DMD:c.*2039C>A DMD:c.*2039C>A LOVD substitution not within known transcription unit 1 DMD:c.*2139_*2155dup DMD:c.*2139_*2155dup LOVD duplication not within known transcription unit 1 DMD:c.*2153_*2154insATGTGACGCTGG DMD:c.*2153_*2154insATGTGACGCTGG LOVD insertion not within known transcription unit 1 DMD:c.*216846T>C DMD:c.*216846T>C LOVD substitution not within known transcription unit 1 DMD:c.*2234_*2237dup DMD:c.*2234_*2237dup LOVD duplication not within known transcription unit 1 DMD:c.*2252A>G DMD:c.*2252A>G LOVD substitution not within known transcription unit 1 DMD:c.*23_*35del DMD:c.*23_*35del LOVD deletion not within known transcription unit 1 DMD:c.*2578_*2581dup DMD:c.*2578_*2581dup LOVD duplication not within known transcription unit 1 DMD:c.*2758_*2761del DMD:c.*2758_*2761del LOVD deletion not within known transcription unit 1 DMD:c.*2760_*2763del DMD:c.*2760_*2763del LOVD deletion not within known transcription unit 1 DMD:c.*2766delT DMD:c.*2766delT LOVD deletion not within known transcription unit 1 DMD:c.*2768_*2771dup DMD:c.*2768_*2771dup LOVD duplication not within known transcription unit 1 DMD:c.*33337A>T DMD:c.*33337A>T LOVD substitution not within known transcription unit 1 DMD:c.*36931T>A DMD:c.*36931T>A LOVD substitution not within known transcription unit 1 DMD:c.*37085A>C DMD:c.*37085A>C LOVD substitution not within known transcription unit 1 DMD:c.*38G>A DMD:c.*38G>A LOVD substitution not within known transcription unit 1 DMD:c.*467_*476del DMD:c.*467_*476del LOVD deletion not within known transcription unit 1 DMD:c.*473C>T DMD:c.*473C>T LOVD substitution not within known transcription unit 1 DMD:c.*477T>C DMD:c.*477T>C LOVD substitution not within known transcription unit 1 DMD:c.*477_*480dup DMD:c.*477_*480dup LOVD duplication not within known transcription unit 1 DMD:c.*477_*482del DMD:c.*477_*482del LOVD deletion not within known transcription unit 1 DMD:c.*477_*484del DMD:c.*477_*484del LOVD deletion not within known transcription unit 1 DMD:c.*477_*488del DMD:c.*477_*488del LOVD deletion not within known transcription unit 1 DMD:c.*477_*490del DMD:c.*477_*490del LOVD deletion not within known transcription unit 1 DMD:c.*477_484del DMD:c.*477_484del LOVD deletion not within known transcription unit 1 DMD:c.*489C>T DMD:c.*489C>T LOVD substitution not within known transcription unit 1 DMD:c.*489_*492dup DMD:c.*489_*492dup LOVD duplication not within known transcription unit 1 DMD:c.*491_*492del DMD:c.*491_*492del LOVD deletion not within known transcription unit 1 DMD:c.*491_*492dup DMD:c.*491_*492dup LOVD duplication not within known transcription unit 1 DMD:c.*921_*924dup DMD:c.*921_*924dup LOVD duplication not within known transcription unit 1 DMD:c.*92422A>G DMD:c.*92422A>G LOVD substitution not within known transcription unit 1 DMD:c.*952_*956del DMD:c.*952_*956del LOVD deletion not within known transcription unit 1 DMD:c.*968dupT DMD:c.*968dupT LOVD duplication not within known transcription unit 1 DMD:c.-114dupT DMD:c.-114dupT LOVD duplication not within known transcription unit 1 DMD:c.-127810T>C DMD:c.-127810T>C LOVD substitution not within known transcription unit 1 DMD:c.-127831delA DMD:c.-127831delA LOVD deletion not within known transcription unit 1 DMD:c.-128163A>G DMD:c.-128163A>G LOVD substitution not within known transcription unit 1 DMD:c.-128249G>T DMD:c.-128249G>T LOVD substitution not within known transcription unit 1 DMD:c.-128410A>C DMD:c.-128410A>C LOVD substitution not within known transcription unit 1 DMD:c.-128499_-128498del DMD:c.-128499_-128498del LOVD deletion not within known transcription unit 1 DMD:c.-13496_31+1783del DMD:c.-13496_31+1783del LOVD deletion not within known transcription unit 1 DMD:c.-1443_31+4726delins12 DMD:c.-1443_31+4726delins12 LOVD complex not within known transcription unit 1 DMD:c.-202238G>A DMD:c.-202238G>A LOVD substitution not within known transcription unit 1 DMD:c.-25482G>C DMD:c.-25482G>C LOVD substitution not within known transcription unit 1 DMD:c.-29_-28ins603 DMD:c.-29_-28ins603 LOVD insertion not within known transcription unit 1 DMD:c.-419A>G DMD:c.-419A>G LOVD substitution not within known transcription unit 1 DMD:c.-46953C>G DMD:c.-46953C>G LOVD substitution not within known transcription unit 1 DMD:c.-54T>A DMD:c.-54T>A LOVD substitution not within known transcription unit 1 DMD:c.-648_0dup DMD:c.-648_0dup LOVD duplication not within known transcription unit 1 DMD:c.-807A>T DMD:c.-807A>T LOVD substitution not within known transcription unit 1 DMD:c.-85T>C DMD:c.-85T>C LOVD substitution not within known transcription unit 1 DMD:c.-8T>A DMD:c.-8T>A LOVD substitution not within known transcription unit 1 DMD:c.10002T>G DMD:c.10002T>G LOVD substitution exon 1 DMD:c.10003G>A DMD:c.10003G>A LOVD substitution exon 1 DMD:c.10003G>C DMD:c.10003G>C LOVD substitution exon 1 DMD:c.10003G>T DMD:c.10003G>T LOVD substitution exon 1 DMD:c.10009T>C DMD:c.10009T>C LOVD substitution exon 1 DMD:c.10012C>T DMD:c.10012C>T LOVD substitution exon 1 DMD:c.10015delA DMD:c.10015delA LOVD deletion exon 1 DMD:c.10018T>C DMD:c.10018T>C LOVD substitution exon 1 DMD:c.10019G>A DMD:c.10019G>A LOVD substitution exon 1 DMD:c.10020delC DMD:c.10020delC LOVD deletion exon 1 DMD:c.10027delT DMD:c.10027delT LOVD deletion exon 1 DMD:c.10027dupT DMD:c.10027dupT LOVD duplication exon 1 DMD:c.10033C>T DMD:c.10033C>T LOVD substitution exon 1 DMD:c.1005G>A DMD:c.1005G>A LOVD substitution exon 1 DMD:c.1006G>T DMD:c.1006G>T LOVD substitution exon 1 DMD:c.10072G>T DMD:c.10072G>T LOVD substitution exon 1 DMD:c.10077T>A DMD:c.10077T>A LOVD substitution exon 1 DMD:c.10086+1G>A DMD:c.10086+1G>A LOVD substitution intron 1 DMD:c.10086+1G>T DMD:c.10086+1G>T LOVD substitution intron 1 DMD:c.10086+283T>C DMD:c.10086+283T>C LOVD substitution intron 1 DMD:c.10086+2T>A DMD:c.10086+2T>A LOVD substitution intron 1 DMD:c.10086+2T>C DMD:c.10086+2T>C LOVD substitution intron 1 DMD:c.10086+5G>C DMD:c.10086+5G>C LOVD substitution intron 1 DMD:c.10087-139C>G DMD:c.10087-139C>G LOVD substitution intron 1 DMD:c.10087-20C>T DMD:c.10087-20C>T LOVD substitution intron 1 DMD:c.10087-24A>G DMD:c.10087-24A>G LOVD substitution intron 1 DMD:c.10087-2A>G DMD:c.10087-2A>G LOVD substitution intron 1 DMD:c.10087-2A>T DMD:c.10087-2A>T LOVD substitution intron 1 DMD:c.10087-358A>C DMD:c.10087-358A>C LOVD substitution intron 1 DMD:c.10088delC DMD:c.10088delC LOVD deletion exon 1 DMD:c.10094C>G DMD:c.10094C>G LOVD substitution exon 1 DMD:c.10097_10099del DMD:c.10097_10099del LOVD deletion exon 1 DMD:c.10101_10103del DMD:c.10101_10103del LOVD deletion exon 1 DMD:c.10102G>C DMD:c.10102G>C LOVD substitution exon 1 DMD:c.10103A>G DMD:c.10103A>G LOVD substitution exon 1 DMD:c.10108C>T DMD:c.10108C>T LOVD substitution exon 1 DMD:c.10115_10116del DMD:c.10115_10116del LOVD deletion exon 1 DMD:c.10121delA DMD:c.10121delA LOVD deletion exon 1 DMD:c.10122_10153del DMD:c.10122_10153del LOVD deletion exon 1 DMD:c.10126delC DMD:c.10126delC LOVD deletion exon 1 DMD:c.1012G>T DMD:c.1012G>T LOVD substitution exon 1 DMD:c.10133delA DMD:c.10133delA LOVD deletion exon 1 DMD:c.10133dupA DMD:c.10133dupA LOVD duplication exon 1 DMD:c.10134_10137del DMD:c.10134_10137del LOVD deletion exon 1 DMD:c.10135A>T DMD:c.10135A>T LOVD substitution exon 1 DMD:c.10141C>T DMD:c.10141C>T LOVD substitution exon 1 DMD:c.10149A>C DMD:c.10149A>C LOVD substitution exon 1 DMD:c.10171C>T DMD:c.10171C>T LOVD substitution exon 1 DMD:c.10171dupC DMD:c.10171dupC LOVD duplication exon 1 DMD:c.10179_10186delinsTCTAAGA DMD:c.10179_10186delinsTCTAAGA LOVD complex exon 1 DMD:c.10186C>T DMD:c.10186C>T LOVD substitution exon 1 DMD:c.10202T>G DMD:c.10202T>G LOVD substitution exon 1 DMD:c.10203delA DMD:c.10203delA LOVD deletion exon 1 DMD:c.10204_10208del DMD:c.10204_10208del LOVD deletion exon 1 DMD:c.10205delA DMD:c.10205delA LOVD deletion exon 1 DMD:c.1021dupC DMD:c.1021dupC LOVD duplication exon 1 DMD:c.10223+142T>C DMD:c.10223+142T>C LOVD substitution intron 1 DMD:c.10223+1G>A DMD:c.10223+1G>A LOVD substitution intron 1 DMD:c.10223+1G>C DMD:c.10223+1G>C LOVD substitution intron 1 DMD:c.10223+2dupT DMD:c.10223+2dupT LOVD duplication intron 1 DMD:c.10223+2T>C DMD:c.10223+2T>C LOVD substitution intron 1 DMD:c.10223+3del DMD:c.10223+3del LOVD deletion intron 1 DMD:c.10223+3G>A DMD:c.10223+3G>A LOVD substitution intron 1 DMD:c.10223+3G>C DMD:c.10223+3G>C LOVD substitution intron 1 DMD:c.10223+5G>A DMD:c.10223+5G>A LOVD substitution intron 1 DMD:c.10223+5G>C DMD:c.10223+5G>C LOVD substitution intron 1 DMD:c.10224-101T>C DMD:c.10224-101T>C LOVD substitution intron 1 DMD:c.10224-1_10224dup DMD:c.10224-1_10224dup LOVD duplication intron 1 DMD:c.10224dupT DMD:c.10224dupT LOVD duplication exon 1 DMD:c.10225_10229del DMD:c.10225_10229del LOVD deletion exon 1 DMD:c.10227dupC DMD:c.10227dupC LOVD duplication exon 1 DMD:c.10231dupA DMD:c.10231dupA LOVD duplication exon 1 DMD:c.10262+22_10262+23delinsAT DMD:c.10262+22_10262+23delinsAT LOVD complex intron 1 DMD:c.10262+698C>G DMD:c.10262+698C>G LOVD substitution intron 1 DMD:c.10262C>T DMD:c.10262C>T LOVD substitution exon 1 DMD:c.10263-411T>C DMD:c.10263-411T>C LOVD substitution intron 1 DMD:c.10279C>T DMD:c.10279C>T LOVD substitution exon 1 DMD:c.10304C>A DMD:c.10304C>A LOVD substitution exon 1 DMD:c.10328+158A>G DMD:c.10328+158A>G LOVD substitution intron 1 DMD:c.10328+379T>C DMD:c.10328+379T>C LOVD substitution intron 1 DMD:c.10328+501T>C DMD:c.10328+501T>C LOVD substitution intron 1 DMD:c.10328+67A>G DMD:c.10328+67A>G LOVD substitution intron 1 DMD:c.10362T>A DMD:c.10362T>A LOVD substitution exon 1 DMD:c.10368delT DMD:c.10368delT LOVD deletion exon 1 DMD:c.10387G>T DMD:c.10387G>T LOVD substitution exon 1 DMD:c.10394+130T>G DMD:c.10394+130T>G LOVD substitution intron 1 DMD:c.10395-178G>A DMD:c.10395-178G>A LOVD substitution intron 1 DMD:c.10395-32A>G DMD:c.10395-32A>G LOVD substitution intron 1 DMD:c.10395-43delA DMD:c.10395-43delA LOVD deletion intron 1 DMD:c.103C>T DMD:c.103C>T LOVD substitution exon 1 DMD:c.10406delA DMD:c.10406delA LOVD deletion exon 1 DMD:c.10406_10407del DMD:c.10406_10407del LOVD deletion exon 1 DMD:c.10406_10407insAA DMD:c.10406_10407insAA LOVD insertion exon 1 DMD:c.10412T>A DMD:c.10412T>A LOVD substitution exon 1 DMD:c.10453delC DMD:c.10453delC LOVD deletion exon 1 DMD:c.10453dupC DMD:c.10453dupC LOVD duplication exon 1 DMD:c.10453_10454del DMD:c.10453_10454del LOVD deletion exon 1 DMD:c.10453_10454delinsTA DMD:c.10453_10454delinsTA LOVD complex exon 1 DMD:c.10454delT DMD:c.10454delT LOVD deletion exon 1 DMD:c.1045G>T DMD:c.1045G>T LOVD substitution exon 1 DMD:c.10477C>T DMD:c.10477C>T LOVD substitution exon 1 DMD:c.10477delC DMD:c.10477delC LOVD deletion exon 1 DMD:c.10484_10491delinsG DMD:c.10484_10491delinsG LOVD complex exon 1 DMD:c.10489delT DMD:c.10489delT LOVD deletion exon 1 DMD:c.10498_10499del DMD:c.10498_10499del LOVD deletion exon 1 DMD:c.10504G>T DMD:c.10504G>T LOVD substitution exon 1 DMD:c.10507delA DMD:c.10507delA LOVD deletion exon 1 DMD:c.10509_10510del DMD:c.10509_10510del LOVD deletion exon 1 DMD:c.10511_10513dup DMD:c.10511_10513dup LOVD duplication exon 1 DMD:c.10543G>T DMD:c.10543G>T LOVD substitution exon 1 DMD:c.10553+10122G>A DMD:c.10553+10122G>A LOVD substitution intron 1 DMD:c.10554-167A>G DMD:c.10554-167A>G LOVD substitution intron 1 DMD:c.10554-18C>G DMD:c.10554-18C>G LOVD substitution intron 1 DMD:c.10554-2A>G DMD:c.10554-2A>G LOVD substitution intron 1 DMD:c.10554-36_10554-33del DMD:c.10554-36_10554-33del LOVD deletion intron 1 DMD:c.10554-38_10554-37insCTTT DMD:c.10554-38_10554-37insCTTT LOVD insertion intron 1 DMD:c.10554-9359C>T DMD:c.10554-9359C>T LOVD substitution intron 1 DMD:c.10554-9675C>T DMD:c.10554-9675C>T LOVD substitution intron 1 DMD:c.1055T>G DMD:c.1055T>G LOVD substitution exon 1 DMD:c.10561C>A DMD:c.10561C>A LOVD substitution exon 1 DMD:c.10563delA DMD:c.10563delA LOVD deletion exon 1 DMD:c.10572T>A DMD:c.10572T>A LOVD substitution exon 1 DMD:c.1057T>C DMD:c.1057T>C LOVD substitution exon 1 DMD:c.10588C>T DMD:c.10588C>T LOVD substitution exon 1 DMD:c.10602dupA DMD:c.10602dupA LOVD duplication exon 1 DMD:c.10603_10631dup DMD:c.10603_10631dup LOVD duplication exon 1 DMD:c.10606delC DMD:c.10606delC LOVD deletion exon 1 DMD:c.10609delT DMD:c.10609delT LOVD deletion exon 1 DMD:c.1061G>A DMD:c.1061G>A LOVD substitution exon 1 DMD:c.10620G>A DMD:c.10620G>A LOVD substitution exon 1 DMD:c.1062G>A DMD:c.1062G>A LOVD substitution exon 1 DMD:c.1067_1070delinsCTCTT DMD:c.1067_1070delinsCTCTT LOVD complex exon 1 DMD:c.10722delC DMD:c.10722delC LOVD deletion exon 1 DMD:c.10765C>T DMD:c.10765C>T LOVD substitution exon 1 DMD:c.10769T>A DMD:c.10769T>A LOVD substitution exon 1 DMD:c.10783C>T DMD:c.10783C>T LOVD substitution exon 1 DMD:c.10787delT DMD:c.10787delT LOVD deletion exon 1 DMD:c.10789C>T DMD:c.10789C>T LOVD substitution exon 1 DMD:c.10797+135A>G DMD:c.10797+135A>G LOVD substitution intron 1 DMD:c.10797+42C>G DMD:c.10797+42C>G LOVD substitution intron 1 DMD:c.10797+82G>A DMD:c.10797+82G>A LOVD substitution intron 1 DMD:c.10798-100G>C DMD:c.10798-100G>C LOVD substitution intron 1 DMD:c.10798-110A>C DMD:c.10798-110A>C LOVD substitution intron 1 DMD:c.10798-171T>A DMD:c.10798-171T>A LOVD substitution intron 1 DMD:c.10798-189T>C DMD:c.10798-189T>C LOVD substitution intron 1 DMD:c.10801C>T DMD:c.10801C>T LOVD substitution exon 1 DMD:c.10812delC DMD:c.10812delC LOVD deletion exon 1 DMD:c.10873C>T DMD:c.10873C>T LOVD substitution exon 1 DMD:c.1087C>T DMD:c.1087C>T LOVD substitution exon 1 DMD:c.10888C>T DMD:c.10888C>T LOVD substitution exon 1 DMD:c.10903C>T DMD:c.10903C>T LOVD substitution exon 1 DMD:c.10910C>A DMD:c.10910C>A LOVD substitution exon 1 DMD:c.10921+119_10921+120delinsGG DMD:c.10921+119_10921+120delinsGG LOVD complex intron 1 DMD:c.10921+133C>T DMD:c.10921+133C>T LOVD substitution intron 1 DMD:c.10921+183A>G DMD:c.10921+183A>G LOVD substitution intron 1 DMD:c.10921+236C>T DMD:c.10921+236C>T LOVD substitution intron 1 DMD:c.10921+28T>C DMD:c.10921+28T>C LOVD substitution intron 1 DMD:c.10922-228delA DMD:c.10922-228delA LOVD deletion intron 1 DMD:c.10922-2A>G DMD:c.10922-2A>G LOVD substitution intron 1 DMD:c.1093C>T DMD:c.1093C>T LOVD substitution exon 1 DMD:c.1095A>C DMD:c.1095A>C LOVD substitution exon 1 DMD:c.10969G>T DMD:c.10969G>T LOVD substitution exon 1 DMD:c.1098A>T DMD:c.1098A>T LOVD substitution exon 1 DMD:c.11014+65A>G DMD:c.11014+65A>G LOVD substitution intron 1 DMD:c.11015-131delT DMD:c.11015-131delT LOVD deletion intron 1 DMD:c.11015-151T>G DMD:c.11015-151T>G LOVD substitution intron 1 DMD:c.11015-44delT DMD:c.11015-44delT LOVD deletion intron 1 DMD:c.11015-44dupT DMD:c.11015-44dupT LOVD duplication intron 1 DMD:c.11015-9T>A DMD:c.11015-9T>A LOVD substitution intron 1 DMD:c.11018G>A DMD:c.11018G>A LOVD substitution exon 1 DMD:c.11046+119A>G DMD:c.11046+119A>G LOVD substitution intron 1 DMD:c.11047-1131T>G DMD:c.11047-1131T>G LOVD substitution intron 1 DMD:c.11047-2247T>G DMD:c.11047-2247T>G LOVD substitution intron 1 DMD:c.11047-249A>T DMD:c.11047-249A>T LOVD substitution intron 1 DMD:c.11047-41A>T DMD:c.11047-41A>T LOVD substitution intron 1 DMD:c.11047-85G>T DMD:c.11047-85G>T LOVD substitution intron 1 DMD:c.1117G>T DMD:c.1117G>T LOVD substitution exon 1 DMD:c.1132C>T DMD:c.1132C>T LOVD substitution exon 1 DMD:c.1132_1135dup DMD:c.1132_1135dup LOVD duplication exon 1 DMD:c.1149+118G>A DMD:c.1149+118G>A LOVD substitution intron 1 DMD:c.1149+273_1149+276delinsATGTAAGTATTCC DMD:c.1149+273_1149+276delinsATGTAAGTATTCC LOVD complex intron 1 DMD:c.1149+2T>C DMD:c.1149+2T>C LOVD substitution intron 1 DMD:c.1149+50G>C DMD:c.1149+50G>C LOVD substitution intron 1 DMD:c.1150-1G>T DMD:c.1150-1G>T LOVD substitution intron 1 DMD:c.1150-254dupA DMD:c.1150-254dupA LOVD duplication intron 1 DMD:c.1150-2A>C DMD:c.1150-2A>C LOVD substitution intron 1 DMD:c.1150-2A>T DMD:c.1150-2A>T LOVD substitution intron 1 DMD:c.1150-317T>G DMD:c.1150-317T>G LOVD substitution intron 1 DMD:c.116dupA DMD:c.116dupA LOVD duplication exon 1 DMD:c.116_155del DMD:c.116_155del LOVD deletion exon 1 DMD:c.1177C>T DMD:c.1177C>T LOVD substitution exon 1 DMD:c.1193_1200del DMD:c.1193_1200del LOVD deletion exon 1 DMD:c.11G>A DMD:c.11G>A LOVD substitution exon 1 DMD:c.1218_1245delinsAAGCTGATTCTACAATTGG DMD:c.1218_1245delinsAAGCTGATTCTACAATTGG LOVD complex exon 1 DMD:c.1225A>T DMD:c.1225A>T LOVD substitution exon 1 DMD:c.1235delT DMD:c.1235delT LOVD deletion exon 1 DMD:c.1238C>A DMD:c.1238C>A LOVD substitution exon 1 DMD:c.1240_1249del DMD:c.1240_1249del LOVD deletion exon 1 DMD:c.1255G>T DMD:c.1255G>T LOVD substitution exon 1 DMD:c.1261C>T DMD:c.1261C>T LOVD substitution exon 1 DMD:c.1267C>T DMD:c.1267C>T LOVD substitution exon 1 DMD:c.127_128dup DMD:c.127_128dup LOVD duplication exon 1 DMD:c.127_130dup DMD:c.127_130dup LOVD duplication exon 1 DMD:c.1286C>A DMD:c.1286C>A LOVD substitution exon 1 DMD:c.1286C>G DMD:c.1286C>G LOVD substitution exon 1 DMD:c.1292G>A DMD:c.1292G>A LOVD substitution exon 1 DMD:c.1293G>A DMD:c.1293G>A LOVD substitution exon 1 DMD:c.1294dupG DMD:c.1294dupG LOVD duplication exon 1 DMD:c.1306_1307dup DMD:c.1306_1307dup LOVD duplication exon 1 DMD:c.1310C>G DMD:c.1310C>G LOVD substitution exon 1 DMD:c.131T>G DMD:c.131T>G LOVD substitution exon 1 DMD:c.1323delA DMD:c.1323delA LOVD deletion exon 1 DMD:c.1323dupA DMD:c.1323dupA LOVD duplication exon 1 DMD:c.1324C>T DMD:c.1324C>T LOVD substitution exon 1 DMD:c.1329_1331+5del DMD:c.1329_1331+5del LOVD deletion not within known transcription unit 1 DMD:c.1331+127G>A DMD:c.1331+127G>A LOVD substitution intron 1 DMD:c.1331+131G>C DMD:c.1331+131G>C LOVD substitution intron 1 DMD:c.1331+145delT DMD:c.1331+145delT LOVD deletion intron 1 DMD:c.1331+1G>A DMD:c.1331+1G>A LOVD substitution intron 1 DMD:c.1331+1G>T DMD:c.1331+1G>T LOVD substitution intron 1 DMD:c.1331+222A>G DMD:c.1331+222A>G LOVD substitution intron 1 DMD:c.1331+26A>G DMD:c.1331+26A>G LOVD substitution intron 1 DMD:c.1331+55A>G DMD:c.1331+55A>G LOVD substitution intron 1 DMD:c.1332-11909C>G DMD:c.1332-11909C>G LOVD substitution intron 1 DMD:c.1332-189A>G DMD:c.1332-189A>G LOVD substitution intron 1 DMD:c.1332-1G>T DMD:c.1332-1G>T LOVD substitution intron 1 DMD:c.1332-286T>C DMD:c.1332-286T>C LOVD substitution intron 1 DMD:c.1332-293C>A DMD:c.1332-293C>A LOVD substitution intron 1 DMD:c.1332-6810C>T DMD:c.1332-6810C>T LOVD substitution intron 1 DMD:c.1332-9A>G DMD:c.1332-9A>G LOVD substitution intron 1 DMD:c.1334T>G DMD:c.1334T>G LOVD substitution exon 1 DMD:c.1337A>G DMD:c.1337A>G LOVD substitution exon 1 DMD:c.133C>T DMD:c.133C>T LOVD substitution exon 1 DMD:c.1341_1342del DMD:c.1341_1342del LOVD deletion exon 1 DMD:c.1346delT DMD:c.1346delT LOVD deletion exon 1 DMD:c.1346dupT DMD:c.1346dupT LOVD duplication exon 1 DMD:c.1357C>T DMD:c.1357C>T LOVD substitution exon 1 DMD:c.136G>T DMD:c.136G>T LOVD substitution exon 1 DMD:c.1373_1374del DMD:c.1373_1374del LOVD deletion exon 1 DMD:c.1374delA DMD:c.1374delA LOVD deletion exon 1 DMD:c.1374dupA DMD:c.1374dupA LOVD duplication exon 1 DMD:c.1376_1377del DMD:c.1376_1377del LOVD deletion exon 1 DMD:c.137A>T DMD:c.137A>T LOVD substitution exon 1 DMD:c.1388G>A DMD:c.1388G>A LOVD substitution exon 1 DMD:c.1390delC DMD:c.1390delC LOVD deletion exon 1 DMD:c.1394delC DMD:c.1394delC LOVD deletion exon 1 DMD:c.141dupG DMD:c.141dupG LOVD duplication exon 1 DMD:c.1426dupG DMD:c.1426dupG LOVD duplication exon 1 DMD:c.1426G>T DMD:c.1426G>T LOVD substitution exon 1 DMD:c.1429G>T DMD:c.1429G>T LOVD substitution exon 1 DMD:c.1438G>T DMD:c.1438G>T LOVD substitution exon 1 DMD:c.1465C>T DMD:c.1465C>T LOVD substitution exon 1 DMD:c.1471C>T DMD:c.1471C>T LOVD substitution exon 1 DMD:c.1474C>T DMD:c.1474C>T LOVD substitution exon 1 DMD:c.1482+1delG DMD:c.1482+1delG LOVD deletion intron 1 DMD:c.1482+1G>A DMD:c.1482+1G>A LOVD substitution intron 1 DMD:c.1482+1G>T DMD:c.1482+1G>T LOVD substitution intron 1 DMD:c.1482+25T>A DMD:c.1482+25T>A LOVD substitution intron 1 DMD:c.1482+2T>A DMD:c.1482+2T>A LOVD substitution intron 1 DMD:c.1482+314G>T DMD:c.1482+314G>T LOVD substitution intron 1 DMD:c.1483-110G>A DMD:c.1483-110G>A LOVD substitution intron 1 DMD:c.1483-123G>T DMD:c.1483-123G>T LOVD substitution intron 1 DMD:c.1483-125A>G DMD:c.1483-125A>G LOVD substitution intron 1 DMD:c.1483-196_6290+13272del DMD:c.1483-196_6290+13272del LOVD deletion intron 1 DMD:c.1483-1G>C DMD:c.1483-1G>C LOVD substitution intron 1 DMD:c.1483-2539C>T DMD:c.1483-2539C>T LOVD substitution intron 1 DMD:c.1483-2A>T DMD:c.1483-2A>T LOVD substitution intron 1 DMD:c.1483-6455A>G DMD:c.1483-6455A>G LOVD substitution intron 1 DMD:c.1483-67A>T DMD:c.1483-67A>T LOVD substitution intron 1 DMD:c.1483-72T>C DMD:c.1483-72T>C LOVD substitution intron 1 DMD:c.1483-7C>G DMD:c.1483-7C>G LOVD substitution intron 1 DMD:c.1483-8T>G DMD:c.1483-8T>G LOVD substitution intron 1 DMD:c.1489C>T DMD:c.1489C>T LOVD substitution exon 1 DMD:c.14_15delinsT DMD:c.14_15delinsT LOVD complex exon 1 DMD:c.1512A>T DMD:c.1512A>T LOVD substitution exon 1 DMD:c.1513G>C DMD:c.1513G>C LOVD substitution exon 1 DMD:c.1513G>T DMD:c.1513G>T LOVD substitution exon 1 DMD:c.1519delG DMD:c.1519delG LOVD deletion exon 1 DMD:c.1527_1530del DMD:c.1527_1530del LOVD deletion exon 1 DMD:c.152dupT DMD:c.152dupT LOVD duplication exon 1 DMD:c.1533_1536del DMD:c.1533_1536del LOVD deletion exon 1 DMD:c.1540dupG DMD:c.1540dupG LOVD duplication exon 1 DMD:c.1542_1543insA DMD:c.1542_1543insA LOVD insertion exon 1 DMD:c.1543dupG DMD:c.1543dupG LOVD duplication exon 1 DMD:c.1544dupT DMD:c.1544dupT LOVD duplication exon 1 DMD:c.1554T>A DMD:c.1554T>A LOVD substitution exon 1 DMD:c.1555G>T DMD:c.1555G>T LOVD substitution exon 1 DMD:c.1580C>A DMD:c.1580C>A LOVD substitution exon 1 DMD:c.1594C>T DMD:c.1594C>T LOVD substitution exon 1 DMD:c.1602+199C>A DMD:c.1602+199C>A LOVD substitution intron 1 DMD:c.1602+1G>A DMD:c.1602+1G>A LOVD substitution intron 1 DMD:c.1602+1G>C DMD:c.1602+1G>C LOVD substitution intron 1 DMD:c.1602+1G>T DMD:c.1602+1G>T LOVD substitution intron 1 DMD:c.1602+25T>A DMD:c.1602+25T>A LOVD substitution intron 1 DMD:c.1602+308delC DMD:c.1602+308delC LOVD deletion intron 1 DMD:c.1602+5743C>G DMD:c.1602+5743C>G LOVD substitution intron 1 DMD:c.1602+642C>G DMD:c.1602+642C>G LOVD substitution intron 1 DMD:c.1602+7543C>A DMD:c.1602+7543C>A LOVD substitution intron 1 DMD:c.1602G>T DMD:c.1602G>T LOVD substitution exon 1 DMD:c.1603-144T>G DMD:c.1603-144T>G LOVD substitution intron 1 DMD:c.1603-1G>A DMD:c.1603-1G>A LOVD substitution intron 1 DMD:c.1603-1G>T DMD:c.1603-1G>T LOVD substitution intron 1 DMD:c.1603-2A>C DMD:c.1603-2A>C LOVD substitution intron 1 DMD:c.1603-358G>T DMD:c.1603-358G>T LOVD substitution intron 1 DMD:c.1603-8798G>A DMD:c.1603-8798G>A LOVD substitution intron 1 DMD:c.1609G>T DMD:c.1609G>T LOVD substitution exon 1 DMD:c.1615C>T DMD:c.1615C>T LOVD substitution exon 1 DMD:c.1616G>A DMD:c.1616G>A LOVD substitution exon 1 DMD:c.1619G>A DMD:c.1619G>A LOVD substitution exon 1 DMD:c.161T>G DMD:c.161T>G LOVD substitution exon 1 DMD:c.1625delA DMD:c.1625delA LOVD deletion exon 1 DMD:c.1627delA DMD:c.1627delA LOVD deletion exon 1 DMD:c.1633A>T DMD:c.1633A>T LOVD substitution exon 1 DMD:c.1635A>G DMD:c.1635A>G LOVD substitution exon 1 DMD:c.1637G>A DMD:c.1637G>A LOVD substitution exon 1 DMD:c.1642G>T DMD:c.1642G>T LOVD substitution exon 1 DMD:c.1654_1655insAC DMD:c.1654_1655insAC LOVD insertion exon 1 DMD:c.1659_1660insGTAA DMD:c.1659_1660insGTAA LOVD insertion exon 1 DMD:c.1663C>T DMD:c.1663C>T LOVD substitution exon 1 DMD:c.1666delG DMD:c.1666delG LOVD deletion exon 1 DMD:c.1674T>G DMD:c.1674T>G LOVD substitution exon 1 DMD:c.167delG DMD:c.167delG LOVD deletion exon 1 DMD:c.1682G>A DMD:c.1682G>A LOVD substitution exon 1 DMD:c.1683G>A DMD:c.1683G>A LOVD substitution exon 1 DMD:c.1684C>T DMD:c.1684C>T LOVD substitution exon 1 DMD:c.1684delC DMD:c.1684delC LOVD deletion exon 1 DMD:c.1684dupC DMD:c.1684dupC LOVD duplication exon 1 DMD:c.1692T>C DMD:c.1692T>C LOVD substitution exon 1 DMD:c.1699G>T DMD:c.1699G>T LOVD substitution exon 1 DMD:c.1702C>T DMD:c.1702C>T LOVD substitution exon 1 DMD:c.1704+1G>T DMD:c.1704+1G>T LOVD substitution intron 1 DMD:c.1704+2T>A DMD:c.1704+2T>A LOVD substitution intron 1 DMD:c.1704+51T>C DMD:c.1704+51T>C LOVD substitution intron 1 DMD:c.1705-5T>G DMD:c.1705-5T>G LOVD substitution intron 1 DMD:c.1713delT DMD:c.1713delT LOVD deletion exon 1 DMD:c.1718C>T DMD:c.1718C>T LOVD substitution exon 1 DMD:c.1721G>A DMD:c.1721G>A LOVD substitution exon 1 DMD:c.1724T>C DMD:c.1724T>C LOVD substitution exon 1 DMD:c.1726delT DMD:c.1726delT LOVD deletion exon 1 DMD:c.1727C>A DMD:c.1727C>A LOVD substitution exon 1 DMD:c.1735_1736delGA DMD:c.1735_1736delGA LOVD deletion exon 1 DMD:c.174_175del DMD:c.174_175del LOVD deletion exon 1 DMD:c.175_184del DMD:c.175_184del LOVD deletion exon 1 DMD:c.1762delA DMD:c.1762delA LOVD deletion exon 1 DMD:c.1773delA DMD:c.1773delA LOVD deletion exon 1 DMD:c.177dupG DMD:c.177dupG LOVD duplication exon 1 DMD:c.1783G>T DMD:c.1783G>T LOVD substitution exon 1 DMD:c.178C>T DMD:c.178C>T LOVD substitution exon 1 DMD:c.178delC DMD:c.178delC LOVD deletion exon 1 DMD:c.1793C>G DMD:c.1793C>G LOVD substitution exon 1 DMD:c.1812+118A>G DMD:c.1812+118A>G LOVD substitution intron 1 DMD:c.1812+169C>A DMD:c.1812+169C>A LOVD substitution intron 1 DMD:c.1812+1G>A DMD:c.1812+1G>A LOVD substitution intron 1 DMD:c.1812+2314_1993-184del DMD:c.1812+2314_1993-184del LOVD deletion intron 1 DMD:c.1812+329C>A DMD:c.1812+329C>A LOVD substitution intron 1 DMD:c.1812+73T>C DMD:c.1812+73T>C LOVD substitution intron 1 DMD:c.1812delC DMD:c.1812delC LOVD deletion exon 1 DMD:c.1813-122G>A DMD:c.1813-122G>A LOVD substitution intron 1 DMD:c.1813-222G>A DMD:c.1813-222G>A LOVD substitution intron 1 DMD:c.1813-3532C>A DMD:c.1813-3532C>A LOVD substitution intron 1 DMD:c.1813-68C>T DMD:c.1813-68C>T LOVD substitution intron 1 DMD:c.1817T>G DMD:c.1817T>G LOVD substitution exon 1 DMD:c.183dupA DMD:c.183dupA LOVD duplication exon 1 DMD:c.1843C>T DMD:c.1843C>T LOVD substitution exon 1 DMD:c.1852_1853del DMD:c.1852_1853del LOVD deletion exon 1 DMD:c.185_186+5del DMD:c.185_186+5del LOVD deletion not within known transcription unit 1 DMD:c.186+114delG DMD:c.186+114delG LOVD deletion intron 1 DMD:c.186+1G>A DMD:c.186+1G>A LOVD substitution intron 1 DMD:c.186+1G>C DMD:c.186+1G>C LOVD substitution intron 1 DMD:c.186+243T>C DMD:c.186+243T>C LOVD substitution intron 1 DMD:c.186+2T>A DMD:c.186+2T>A LOVD substitution intron 1 DMD:c.186+2T>C DMD:c.186+2T>C LOVD substitution intron 1 DMD:c.186+35A>T DMD:c.186+35A>T LOVD substitution intron 1 DMD:c.1860_1861del DMD:c.1860_1861del LOVD deletion exon 1 DMD:c.1865C>G DMD:c.1865C>G LOVD substitution exon 1 DMD:c.1869C>T DMD:c.1869C>T LOVD substitution exon 1 DMD:c.187-13_194inv DMD:c.187-13_194inv LOVD inversion intron 1 DMD:c.187-14T>G DMD:c.187-14T>G LOVD substitution intron 1 DMD:c.187-1G>C DMD:c.187-1G>C LOVD substitution intron 1 DMD:c.187-21A>G DMD:c.187-21A>G LOVD substitution intron 1 DMD:c.187-2A>G DMD:c.187-2A>G LOVD substitution intron 1 DMD:c.1872_1875del DMD:c.1872_1875del LOVD deletion exon 1 DMD:c.1873C>T DMD:c.1873C>T LOVD substitution exon 1 DMD:c.1881delT DMD:c.1881delT LOVD deletion exon 1 DMD:c.1888A>G DMD:c.1888A>G LOVD substitution exon 1 DMD:c.1897_1898insT DMD:c.1897_1898insT LOVD insertion exon 1 DMD:c.1912delC DMD:c.1912delC LOVD deletion exon 1 DMD:c.1928G>A DMD:c.1928G>A LOVD substitution exon 1 DMD:c.192dupA DMD:c.192dupA LOVD duplication exon 1 DMD:c.1934A>G DMD:c.1934A>G LOVD substitution exon 1 DMD:c.193delG DMD:c.193delG LOVD deletion exon 1 DMD:c.193G>T DMD:c.193G>T LOVD substitution exon 1 DMD:c.1945delC DMD:c.1945delC LOVD deletion exon 1 DMD:c.1952G>A DMD:c.1952G>A LOVD substitution exon 1 DMD:c.1961T>A DMD:c.1961T>A LOVD substitution exon 1 DMD:c.1961T>G DMD:c.1961T>G LOVD substitution exon 1 DMD:c.1961_1963delinsAT DMD:c.1961_1963delinsAT LOVD complex exon 1 DMD:c.1966C>T DMD:c.1966C>T LOVD substitution exon 1 DMD:c.1970_1971delinsT DMD:c.1970_1971delinsT LOVD complex exon 1 DMD:c.1973T>C DMD:c.1973T>C LOVD substitution exon 1 DMD:c.1974delT DMD:c.1974delT LOVD deletion exon 1 DMD:c.1975G>T DMD:c.1975G>T LOVD substitution exon 1 DMD:c.1978_1979del DMD:c.1978_1979del LOVD deletion exon 1 DMD:c.1980_1992+31del DMD:c.1980_1992+31del LOVD deletion not within known transcription unit 1 DMD:c.1980_2024del DMD:c.1980_2024del LOVD deletion exon 1 DMD:c.198delA DMD:c.198delA LOVD deletion exon 1 DMD:c.198dupA DMD:c.198dupA LOVD duplication exon 1 DMD:c.1990C>T DMD:c.1990C>T LOVD substitution exon 1 DMD:c.1992+116T>G DMD:c.1992+116T>G LOVD substitution intron 1 DMD:c.1992+1801C>G DMD:c.1992+1801C>G LOVD substitution intron 1 DMD:c.1992+195A>T DMD:c.1992+195A>T LOVD substitution intron 1 DMD:c.1992+1G>T DMD:c.1992+1G>T LOVD substitution intron 1 DMD:c.1992+411G>C DMD:c.1992+411G>C LOVD substitution intron 1 DMD:c.1993-115G>C DMD:c.1993-115G>C LOVD substitution intron 1 DMD:c.1993-1396G>C DMD:c.1993-1396G>C LOVD substitution intron 1 DMD:c.1993-178A>C DMD:c.1993-178A>C LOVD substitution intron 1 DMD:c.1993-28C>G DMD:c.1993-28C>G LOVD substitution intron 1 DMD:c.1993-37T>G DMD:c.1993-37T>G LOVD substitution intron 1 DMD:c.1993-3C>G DMD:c.1993-3C>G LOVD substitution intron 1 DMD:c.1993-41T>C DMD:c.1993-41T>C LOVD substitution intron 1 DMD:c.1999C>T DMD:c.1999C>T LOVD substitution exon 1 DMD:c.199G>T DMD:c.199G>T LOVD substitution exon 1 DMD:c.1_3delinsTAC DMD:c.1_3delinsTAC LOVD complex exon 1 DMD:c.200dupG DMD:c.200dupG LOVD duplication exon 1 DMD:c.2017C>T DMD:c.2017C>T LOVD substitution exon 1 DMD:c.2017_2027del DMD:c.2017_2027del LOVD deletion exon 1 DMD:c.2019_2029dup DMD:c.2019_2029dup LOVD duplication exon 1 DMD:c.2032C>T DMD:c.2032C>T LOVD substitution exon 1 DMD:c.2047G>T DMD:c.2047G>T LOVD substitution exon 1 DMD:c.2060C>T DMD:c.2060C>T LOVD substitution exon 1 DMD:c.2074dupG DMD:c.2074dupG LOVD duplication exon 1 DMD:c.2075_2081delins3 DMD:c.2075_2081delins3 LOVD complex exon 1 DMD:c.2077C>T DMD:c.2077C>T LOVD substitution exon 1 DMD:c.2079dupG DMD:c.2079dupG LOVD duplication exon 1 DMD:c.2086_2098del DMD:c.2086_2098del LOVD deletion exon 1 DMD:c.2089A>T DMD:c.2089A>T LOVD substitution exon 1 DMD:c.2098C>T DMD:c.2098C>T LOVD substitution exon 1 DMD:c.2104G>T DMD:c.2104G>T LOVD substitution exon 1 DMD:c.2125C>T DMD:c.2125C>T LOVD substitution exon 1 DMD:c.2128A>T DMD:c.2128A>T LOVD substitution exon 1 DMD:c.2137C>T DMD:c.2137C>T LOVD substitution exon 1 DMD:c.2142dupT DMD:c.2142dupT LOVD duplication exon 1 DMD:c.2143A>T DMD:c.2143A>T LOVD substitution exon 1 DMD:c.2168+13T>C DMD:c.2168+13T>C LOVD substitution intron 1 DMD:c.2168+1451C>T DMD:c.2168+1451C>T LOVD substitution intron 1 DMD:c.2168+1808T>C DMD:c.2168+1808T>C LOVD substitution intron 1 DMD:c.2168+1866G>A DMD:c.2168+1866G>A LOVD substitution intron 1 DMD:c.2168+191G>C DMD:c.2168+191G>C LOVD substitution intron 1 DMD:c.2168+1963C>A DMD:c.2168+1963C>A LOVD substitution intron 1 DMD:c.2168+1G>C DMD:c.2168+1G>C LOVD substitution intron 1 DMD:c.2168+222G>A DMD:c.2168+222G>A LOVD substitution intron 1 DMD:c.2168+278A>G DMD:c.2168+278A>G LOVD substitution intron 1 DMD:c.2168+3042C>T DMD:c.2168+3042C>T LOVD substitution intron 1 DMD:c.2168+421G>A DMD:c.2168+421G>A LOVD substitution intron 1 DMD:c.2168+4944G>A DMD:c.2168+4944G>A LOVD substitution intron 1 DMD:c.2168+7471G>C DMD:c.2168+7471G>C LOVD substitution intron 1 DMD:c.2168+889G>A DMD:c.2168+889G>A LOVD substitution intron 1 DMD:c.2169-1G>C DMD:c.2169-1G>C LOVD substitution intron 1 DMD:c.2169-204T>C DMD:c.2169-204T>C LOVD substitution intron 1 DMD:c.2169-306G>A DMD:c.2169-306G>A LOVD substitution intron 1 DMD:c.2169-4_2169-1delinsCTTT DMD:c.2169-4_2169-1delinsCTTT LOVD complex intron 1 DMD:c.2169-96T>C DMD:c.2169-96T>C LOVD substitution intron 1 DMD:c.2176G>T DMD:c.2176G>T LOVD substitution exon 1 DMD:c.2187_2188del DMD:c.2187_2188del LOVD deletion exon 1 DMD:c.2190_2191del DMD:c.2190_2191del LOVD deletion exon 1 DMD:c.2194_2224del DMD:c.2194_2224del LOVD deletion exon 1 DMD:c.2197delA DMD:c.2197delA LOVD deletion exon 1 DMD:c.220_222delinsTAA DMD:c.220_222delinsTAA LOVD complex exon 1 DMD:c.2210delG DMD:c.2210delG LOVD deletion exon 1 DMD:c.2222delT DMD:c.2222delT LOVD deletion exon 1 DMD:c.2225_2241del DMD:c.2225_2241del LOVD deletion exon 1 DMD:c.2227C>T DMD:c.2227C>T LOVD substitution exon 1 DMD:c.2230_2231del DMD:c.2230_2231del LOVD deletion exon 1 DMD:c.2236G>T DMD:c.2236G>T LOVD substitution exon 1 DMD:c.2257G>T DMD:c.2257G>T LOVD substitution exon 1 DMD:c.2264_2291del DMD:c.2264_2291del LOVD deletion exon 1 DMD:c.2270C>G DMD:c.2270C>G LOVD substitution exon 1 DMD:c.2281G>T DMD:c.2281G>T LOVD substitution exon 1 DMD:c.2281_2284del DMD:c.2281_2284del LOVD deletion exon 1 DMD:c.2281_2285del DMD:c.2281_2285del LOVD deletion exon 1 DMD:c.2291A>G DMD:c.2291A>G LOVD substitution exon 1 DMD:c.2292+2T>C DMD:c.2292+2T>C LOVD substitution intron 1 DMD:c.2292+3710C>T DMD:c.2292+3710C>T LOVD substitution intron 1 DMD:c.2292+4672A>T DMD:c.2292+4672A>T LOVD substitution intron 1 DMD:c.2292+4684C>A DMD:c.2292+4684C>A LOVD substitution intron 1 DMD:c.2293-144_2339del DMD:c.2293-144_2339del LOVD deletion intron 1 DMD:c.2293-144_2340del DMD:c.2293-144_2340del LOVD deletion intron 1 DMD:c.2293-182A>G DMD:c.2293-182A>G LOVD substitution intron 1 DMD:c.2293-183C>T DMD:c.2293-183C>T LOVD substitution intron 1 DMD:c.2293-185C>G DMD:c.2293-185C>G LOVD substitution intron 1 DMD:c.2293-1G>A DMD:c.2293-1G>A LOVD substitution intron 1 DMD:c.2293-1G>T DMD:c.2293-1G>T LOVD substitution intron 1 DMD:c.2293-209A>G DMD:c.2293-209A>G LOVD substitution intron 1 DMD:c.2293-5_2295del DMD:c.2293-5_2295del LOVD deletion intron 1 DMD:c.2299G>T DMD:c.2299G>T LOVD substitution exon 1 DMD:c.22G>T DMD:c.22G>T LOVD substitution exon 1 DMD:c.2302C>T DMD:c.2302C>T LOVD substitution exon 1 DMD:c.2308A>T DMD:c.2308A>T LOVD substitution exon 1 DMD:c.2314G>T DMD:c.2314G>T LOVD substitution exon 1 DMD:c.2317A>G DMD:c.2317A>G LOVD substitution exon 1 DMD:c.2317A>T DMD:c.2317A>T LOVD substitution exon 1 DMD:c.2327_2328del DMD:c.2327_2328del LOVD deletion exon 1 DMD:c.2327_2378del DMD:c.2327_2378del LOVD deletion exon 1 DMD:c.2353C>T DMD:c.2353C>T LOVD substitution exon 1 DMD:c.2359delC DMD:c.2359delC LOVD deletion exon 1 DMD:c.2365G>T DMD:c.2365G>T LOVD substitution exon 1 DMD:c.2368C>T DMD:c.2368C>T LOVD substitution exon 1 DMD:c.236dupA DMD:c.236dupA LOVD duplication exon 1 DMD:c.2370G>T DMD:c.2370G>T LOVD substitution exon 1 DMD:c.2378A>G DMD:c.2378A>G LOVD substitution exon 1 DMD:c.2379dupT DMD:c.2379dupT LOVD duplication exon 1 DMD:c.2380+1539G>A DMD:c.2380+1539G>A LOVD substitution intron 1 DMD:c.2380+3003T>C DMD:c.2380+3003T>C LOVD substitution intron 1 DMD:c.2380+322delC DMD:c.2380+322delC LOVD deletion intron 1 DMD:c.2380+3A>C DMD:c.2380+3A>C LOVD substitution intron 1 DMD:c.2380+47A>G DMD:c.2380+47A>G LOVD substitution intron 1 DMD:c.2381-199A>G DMD:c.2381-199A>G LOVD substitution intron 1 DMD:c.2381-2588_5922+9957dup DMD:c.2381-2588_5922+9957dup LOVD duplication intron 1 DMD:c.2381-278_2381-277del DMD:c.2381-278_2381-277del LOVD deletion intron 1 DMD:c.2381-2A>G DMD:c.2381-2A>G LOVD substitution intron 1 DMD:c.2391T>G DMD:c.2391T>G LOVD substitution exon 1 DMD:c.2396A>G DMD:c.2396A>G LOVD substitution exon 1 DMD:c.2404A>T DMD:c.2404A>T LOVD substitution exon 1 DMD:c.2407C>T DMD:c.2407C>T LOVD substitution exon 1 DMD:c.2416G>T DMD:c.2416G>T LOVD substitution exon 1 DMD:c.2418A>C DMD:c.2418A>C LOVD substitution exon 1 DMD:c.2419C>T DMD:c.2419C>T LOVD substitution exon 1 DMD:c.2435G>A DMD:c.2435G>A LOVD substitution exon 1 DMD:c.2436dupG DMD:c.2436dupG LOVD duplication exon 1 DMD:c.2440G>T DMD:c.2440G>T LOVD substitution exon 1 DMD:c.2449C>T DMD:c.2449C>T LOVD substitution exon 1 DMD:c.2457A>C DMD:c.2457A>C LOVD substitution exon 1 DMD:c.2457_2460del DMD:c.2457_2460del LOVD deletion exon 1 DMD:c.2459_2466dup DMD:c.2459_2466dup LOVD duplication exon 1 DMD:c.245G>C DMD:c.245G>C LOVD substitution exon 1 DMD:c.2463_2466del DMD:c.2463_2466del LOVD deletion exon 1 DMD:c.2469dupT DMD:c.2469dupT LOVD duplication exon 1 DMD:c.2474G>A DMD:c.2474G>A LOVD substitution exon 1 DMD:c.2475G>A DMD:c.2475G>A LOVD substitution exon 1 DMD:c.2479G>T DMD:c.2479G>T LOVD substitution exon 1 DMD:c.2484T>G DMD:c.2484T>G LOVD substitution exon 1 DMD:c.2485C>T DMD:c.2485C>T LOVD substitution exon 1 DMD:c.2489delA DMD:c.2489delA LOVD deletion exon 1 DMD:c.2490C>T DMD:c.2490C>T LOVD substitution exon 1 DMD:c.2512C>T DMD:c.2512C>T LOVD substitution exon 1 DMD:c.251dupT DMD:c.251dupT LOVD duplication exon 1 DMD:c.2521C>T DMD:c.2521C>T LOVD substitution exon 1 DMD:c.2527G>T DMD:c.2527G>T LOVD substitution exon 1 DMD:c.2530C>T DMD:c.2530C>T LOVD substitution exon 1 DMD:c.253C>T DMD:c.253C>T LOVD substitution exon 1 DMD:c.2558T>A DMD:c.2558T>A LOVD substitution exon 1 DMD:c.2559_2560del DMD:c.2559_2560del LOVD deletion exon 1 DMD:c.2566C>T DMD:c.2566C>T LOVD substitution exon 1 DMD:c.2582C>G DMD:c.2582C>G LOVD substitution exon 1 DMD:c.2588delC DMD:c.2588delC LOVD deletion exon 1 DMD:c.2601_2602del DMD:c.2601_2602del LOVD deletion exon 1 DMD:c.2602A>G DMD:c.2602A>G LOVD substitution exon 1 DMD:c.2605C>T DMD:c.2605C>T LOVD substitution exon 1 DMD:c.2611A>T DMD:c.2611A>T LOVD substitution exon 1 DMD:c.2614dupA DMD:c.2614dupA LOVD duplication exon 1 DMD:c.2622+1G>A DMD:c.2622+1G>A LOVD substitution intron 1 DMD:c.2622+1G>C DMD:c.2622+1G>C LOVD substitution intron 1 DMD:c.2622+2T>G DMD:c.2622+2T>G LOVD substitution intron 1 DMD:c.2622+33A>G DMD:c.2622+33A>G LOVD substitution intron 1 DMD:c.2622+58delT DMD:c.2622+58delT LOVD deletion intron 1 DMD:c.2622G>C DMD:c.2622G>C LOVD substitution exon 1 DMD:c.2623-11C>G DMD:c.2623-11C>G LOVD substitution intron 1 DMD:c.2623-2A>G DMD:c.2623-2A>G LOVD substitution intron 1 DMD:c.2623-3C>G DMD:c.2623-3C>G LOVD substitution intron 1 DMD:c.2623-503A>G DMD:c.2623-503A>G LOVD substitution intron 1 DMD:c.2623-67C>T DMD:c.2623-67C>T LOVD substitution intron 1 DMD:c.2623-7G>A DMD:c.2623-7G>A LOVD substitution intron 1 DMD:c.2624_2637dup DMD:c.2624_2637dup LOVD duplication exon 1 DMD:c.2630_2702dup DMD:c.2630_2702dup LOVD duplication exon 1 DMD:c.2638delC DMD:c.2638delC LOVD deletion exon 1 DMD:c.264+1_264+2dup DMD:c.264+1_264+2dup LOVD duplication intron 1 DMD:c.264+361delC DMD:c.264+361delC LOVD deletion intron 1 DMD:c.264+361_264+365del DMD:c.264+361_264+365del LOVD deletion intron 1 DMD:c.264+361_264+365dup DMD:c.264+361_264+365dup LOVD duplication intron 1 DMD:c.264+3A>T DMD:c.264+3A>T LOVD substitution intron 1 DMD:c.264+5G>A DMD:c.264+5G>A LOVD substitution intron 1 DMD:c.264+5G>C DMD:c.264+5G>C LOVD substitution intron 1 DMD:c.264+5G>T DMD:c.264+5G>T LOVD substitution intron 1 DMD:c.2645G>A DMD:c.2645G>A LOVD substitution exon 1 DMD:c.264dupT DMD:c.264dupT LOVD duplication exon 1 DMD:c.265-11T>C DMD:c.265-11T>C LOVD substitution intron 1 DMD:c.265-2A>G DMD:c.265-2A>G LOVD substitution intron 1 DMD:c.265-463A>G DMD:c.265-463A>G LOVD substitution intron 1 DMD:c.2650C>T DMD:c.2650C>T LOVD substitution exon 1 DMD:c.2665C>T DMD:c.2665C>T LOVD substitution exon 1 DMD:c.2669T>G DMD:c.2669T>G LOVD substitution exon 1 DMD:c.2671A>T DMD:c.2671A>T LOVD substitution exon 1 DMD:c.2674delA DMD:c.2674delA LOVD deletion exon 1 DMD:c.2677C>T DMD:c.2677C>T LOVD substitution exon 1 DMD:c.2701G>T DMD:c.2701G>T LOVD substitution exon 1 DMD:c.2706delA DMD:c.2706delA LOVD deletion exon 1 DMD:c.2707G>T DMD:c.2707G>T LOVD substitution exon 1 DMD:c.2712dupC DMD:c.2712dupC LOVD duplication exon 1 DMD:c.2719_2720insA DMD:c.2719_2720insA LOVD insertion exon 1 DMD:c.272T>A DMD:c.272T>A LOVD substitution exon 1 DMD:c.2737delG DMD:c.2737delG LOVD deletion exon 1 DMD:c.274_276delinsTAA DMD:c.274_276delinsTAA LOVD complex exon 1 DMD:c.2755A>T DMD:c.2755A>T LOVD substitution exon 1 DMD:c.2758C>T DMD:c.2758C>T LOVD substitution exon 1 DMD:c.2761delG DMD:c.2761delG LOVD deletion exon 1 DMD:c.2762T>C DMD:c.2762T>C LOVD substitution exon 1 DMD:c.2762_2764delinsCC DMD:c.2762_2764delinsCC LOVD complex exon 1 DMD:c.2767delT DMD:c.2767delT LOVD deletion exon 1 DMD:c.2776C>T DMD:c.2776C>T LOVD substitution exon 1 DMD:c.2787_2788del DMD:c.2787_2788del LOVD deletion exon 1 DMD:c.2788A>T DMD:c.2788A>T LOVD substitution exon 1 DMD:c.2791G>T DMD:c.2791G>T LOVD substitution exon 1 DMD:c.2795T>C DMD:c.2795T>C LOVD substitution exon 1 DMD:c.2797C>T DMD:c.2797C>T LOVD substitution exon 1 DMD:c.2803+167G>T DMD:c.2803+167G>T LOVD substitution intron 1 DMD:c.2803+1G>A DMD:c.2803+1G>A LOVD substitution intron 1 DMD:c.2803+252G>T DMD:c.2803+252G>T LOVD substitution intron 1 DMD:c.2803+5_2803+8del DMD:c.2803+5_2803+8del LOVD deletion intron 1 DMD:c.2804-1G>A DMD:c.2804-1G>A LOVD substitution intron 1 DMD:c.2804-1G>C DMD:c.2804-1G>C LOVD substitution intron 1 DMD:c.2804-1G>T DMD:c.2804-1G>T LOVD substitution intron 1 DMD:c.2804-282G>C DMD:c.2804-282G>C LOVD substitution intron 1 DMD:c.2804-2A>C DMD:c.2804-2A>C LOVD substitution intron 1 DMD:c.2804-2A>G DMD:c.2804-2A>G LOVD substitution intron 1 DMD:c.2804-2A>T DMD:c.2804-2A>T LOVD substitution intron 1 DMD:c.2804-320G>T DMD:c.2804-320G>T LOVD substitution intron 1 DMD:c.2804-87A>C DMD:c.2804-87A>C LOVD substitution intron 1 DMD:c.2804-925A>G DMD:c.2804-925A>G LOVD substitution intron 1 DMD:c.280delA DMD:c.280delA LOVD deletion exon 1 DMD:c.2815_2816del DMD:c.2815_2816del LOVD deletion exon 1 DMD:c.282dupT DMD:c.282dupT LOVD duplication exon 1 DMD:c.2833C>T DMD:c.2833C>T LOVD substitution exon 1 DMD:c.2836G>T DMD:c.2836G>T LOVD substitution exon 1 DMD:c.2836_2838del DMD:c.2836_2838del LOVD deletion exon 1 DMD:c.2862G>A DMD:c.2862G>A LOVD substitution exon 1 DMD:c.2866C>T DMD:c.2866C>T LOVD substitution exon 1 DMD:c.2869C>T DMD:c.2869C>T LOVD substitution exon 1 DMD:c.286_289del DMD:c.286_289del LOVD deletion exon 1 DMD:c.2873C>G DMD:c.2873C>G LOVD substitution exon 1 DMD:c.2916T>A DMD:c.2916T>A LOVD substitution exon 1 DMD:c.291delT DMD:c.291delT LOVD deletion exon 1 DMD:c.2929C>T DMD:c.2929C>T LOVD substitution exon 1 DMD:c.2929dupC DMD:c.2929dupC LOVD duplication exon 1 DMD:c.2933_2934del DMD:c.2933_2934del LOVD deletion exon 1 DMD:c.2947C>T DMD:c.2947C>T LOVD substitution exon 1 DMD:c.2949+127T>G DMD:c.2949+127T>G LOVD substitution intron 1 DMD:c.2949+137A>G DMD:c.2949+137A>G LOVD substitution intron 1 DMD:c.2949+161T>C DMD:c.2949+161T>C LOVD substitution intron 1 DMD:c.2949+169_2949+172del DMD:c.2949+169_2949+172del LOVD deletion intron 1 DMD:c.2949+1G>A DMD:c.2949+1G>A LOVD substitution intron 1 DMD:c.2949+1G>T DMD:c.2949+1G>T LOVD substitution intron 1 DMD:c.2949+254G>C DMD:c.2949+254G>C LOVD substitution intron 1 DMD:c.2949+37G>A DMD:c.2949+37G>A LOVD substitution intron 1 DMD:c.2949+46_2949+54inv DMD:c.2949+46_2949+54inv LOVD inversion intron 1 DMD:c.2949G>C DMD:c.2949G>C LOVD substitution exon 1 DMD:c.2950-209A>G DMD:c.2950-209A>G LOVD substitution intron 1 DMD:c.2950-22_2953del DMD:c.2950-22_2953del LOVD deletion intron 1 DMD:c.2950-2A>G DMD:c.2950-2A>G LOVD substitution intron 1 DMD:c.2950-90A>C DMD:c.2950-90A>C LOVD substitution intron 1 DMD:c.2954T>A DMD:c.2954T>A LOVD substitution exon 1 DMD:c.2954_2979del DMD:c.2954_2979del LOVD deletion exon 1 DMD:c.2955_2958delinsGT DMD:c.2955_2958delinsGT LOVD complex exon 1 DMD:c.2955_2972delinsTT DMD:c.2955_2972delinsTT LOVD complex exon 1 DMD:c.2956C>T DMD:c.2956C>T LOVD substitution exon 1 DMD:c.2968C>T DMD:c.2968C>T LOVD substitution exon 1 DMD:c.2971G>C DMD:c.2971G>C LOVD substitution exon 1 DMD:c.2971G>T DMD:c.2971G>T LOVD substitution exon 1 DMD:c.2974C>T DMD:c.2974C>T LOVD substitution exon 1 DMD:c.298_310del DMD:c.298_310del LOVD deletion exon 1 DMD:c.2991C>G DMD:c.2991C>G LOVD substitution exon 1 DMD:c.2994T>A DMD:c.2994T>A LOVD substitution exon 1 DMD:c.3011_3012del DMD:c.3011_3012del LOVD deletion exon 1 DMD:c.3021G>A DMD:c.3021G>A LOVD substitution exon 1 DMD:c.3030G>T DMD:c.3030G>T LOVD substitution exon 1 DMD:c.3033delC DMD:c.3033delC LOVD deletion exon 1 DMD:c.3036_3037delinsC DMD:c.3036_3037delinsC LOVD complex exon 1 DMD:c.3037_3047del DMD:c.3037_3047del LOVD deletion exon 1 DMD:c.3049A>T DMD:c.3049A>T LOVD substitution exon 1 DMD:c.3054T>G DMD:c.3054T>G LOVD substitution exon 1 DMD:c.3054_3088del DMD:c.3054_3088del LOVD deletion exon 1 DMD:c.3059C>G DMD:c.3059C>G LOVD substitution exon 1 DMD:c.305delG DMD:c.305delG LOVD deletion exon 1 DMD:c.3061G>T DMD:c.3061G>T LOVD substitution exon 1 DMD:c.3067G>T DMD:c.3067G>T LOVD substitution exon 1 DMD:c.3076G>T DMD:c.3076G>T LOVD substitution exon 1 DMD:c.3086G>A DMD:c.3086G>A LOVD substitution exon 1 DMD:c.3087G>A DMD:c.3087G>A LOVD substitution exon 1 DMD:c.3097_3098del DMD:c.3097_3098del LOVD deletion exon 1 DMD:c.31+12548T>C DMD:c.31+12548T>C LOVD substitution intron 1 DMD:c.31+13236T>C DMD:c.31+13236T>C LOVD substitution intron 1 DMD:c.31+13322A>G DMD:c.31+13322A>G LOVD substitution intron 1 DMD:c.31+1G>T DMD:c.31+1G>T LOVD substitution intron 1 DMD:c.31+36947G>A DMD:c.31+36947G>A LOVD substitution intron 1 DMD:c.31+3_31+4insT DMD:c.31+3_31+4insT LOVD insertion intron 1 DMD:c.31+50946_93+30459dup DMD:c.31+50946_93+30459dup LOVD duplication intron 1 DMD:c.31+5G>C DMD:c.31+5G>C LOVD substitution intron 1 DMD:c.31+60414A>G DMD:c.31+60414A>G LOVD substitution intron 1 DMD:c.31+66866A>G DMD:c.31+66866A>G LOVD substitution intron 1 DMD:c.31+6T>C DMD:c.31+6T>C LOVD substitution intron 1 DMD:c.31+76347A>G DMD:c.31+76347A>G LOVD substitution intron 1 DMD:c.31+8117T>C DMD:c.31+8117T>C LOVD substitution intron 1 DMD:c.31+82538G>A DMD:c.31+82538G>A LOVD substitution intron 1 DMD:c.31+82690G>T DMD:c.31+82690G>T LOVD substitution intron 1 DMD:c.31+82769G>A DMD:c.31+82769G>A LOVD substitution intron 1 DMD:c.31+82898C>T DMD:c.31+82898C>T LOVD substitution intron 1 DMD:c.31+83030T>C DMD:c.31+83030T>C LOVD substitution intron 1 DMD:c.31+95200_93+8617dup DMD:c.31+95200_93+8617dup LOVD duplication intron 1 DMD:c.31-?_32-?del DMD:c.31-?_32-?del LOVD deletion not within known transcription unit 0 DMD:c.3103C>T DMD:c.3103C>T LOVD substitution exon 1 DMD:c.3120_3122delinsCC DMD:c.3120_3122delinsCC LOVD complex exon 1 DMD:c.3121C>T DMD:c.3121C>T LOVD substitution exon 1 DMD:c.3125delA DMD:c.3125delA LOVD deletion exon 1 DMD:c.3136C>T DMD:c.3136C>T LOVD substitution exon 1 DMD:c.313A>T DMD:c.313A>T LOVD substitution exon 1 DMD:c.3147delA DMD:c.3147delA LOVD deletion exon 1 DMD:c.3147_3148insT DMD:c.3147_3148insT LOVD insertion exon 1 DMD:c.3151C>T DMD:c.3151C>T LOVD substitution exon 1 DMD:c.3157delA DMD:c.3157delA LOVD deletion exon 1 DMD:c.315dupA DMD:c.315dupA LOVD duplication exon 1 DMD:c.3162+116G>C DMD:c.3162+116G>C LOVD substitution intron 1 DMD:c.3162+254T>G DMD:c.3162+254T>G LOVD substitution intron 1 DMD:c.3162+310delA DMD:c.3162+310delA LOVD deletion intron 1 DMD:c.3162+310_3162+311dupT DMD:c.3162+310_3162+311dupT LOVD duplication intron 1 DMD:c.3162+339_3162+340insT DMD:c.3162+339_3162+340insT LOVD insertion intron 1 DMD:c.3162+344delA DMD:c.3162+344delA LOVD deletion intron 1 DMD:c.3162+364T>C DMD:c.3162+364T>C LOVD substitution intron 1 DMD:c.3163-18T>C DMD:c.3163-18T>C LOVD substitution intron 1 DMD:c.3163-274G>T DMD:c.3163-274G>T LOVD substitution intron 1 DMD:c.3163-44G>A DMD:c.3163-44G>A LOVD substitution intron 1 DMD:c.3163-59T>A DMD:c.3163-59T>A LOVD substitution intron 1 DMD:c.317dupT DMD:c.317dupT LOVD duplication exon 1 DMD:c.3188G>A DMD:c.3188G>A LOVD substitution exon 1 DMD:c.3196G>T DMD:c.3196G>T LOVD substitution exon 1 DMD:c.32-218C>T DMD:c.32-218C>T LOVD substitution intron 1 DMD:c.32-2A>T DMD:c.32-2A>T LOVD substitution intron 1 DMD:c.32-3137T>A DMD:c.32-3137T>A LOVD substitution intron 1 DMD:c.32-4T>A DMD:c.32-4T>A LOVD substitution intron 1 DMD:c.32-66674A>G DMD:c.32-66674A>G LOVD substitution intron 1 DMD:c.32-78G>T DMD:c.32-78G>T LOVD substitution intron 1 DMD:c.32-88dupC DMD:c.32-88dupC LOVD duplication intron 1 DMD:c.32-89429G>C DMD:c.32-89429G>C LOVD substitution intron 1 DMD:c.32-99A>T DMD:c.32-99A>T LOVD substitution intron 1 DMD:c.3201delT DMD:c.3201delT LOVD deletion exon 1 DMD:c.3201dupT DMD:c.3201dupT LOVD duplication exon 1 DMD:c.3217G>T DMD:c.3217G>T LOVD substitution exon 1 DMD:c.321delT DMD:c.321delT LOVD deletion exon 1 DMD:c.3220G>T DMD:c.3220G>T LOVD substitution exon 1 DMD:c.3222delA DMD:c.3222delA LOVD deletion exon 1 DMD:c.3224G>A DMD:c.3224G>A LOVD substitution exon 1 DMD:c.3244G>T DMD:c.3244G>T LOVD substitution exon 1 DMD:c.3247delA DMD:c.3247delA LOVD deletion exon 1 DMD:c.3256A>T DMD:c.3256A>T LOVD substitution exon 1 DMD:c.3256_3257del DMD:c.3256_3257del LOVD deletion exon 1 DMD:c.3257delA DMD:c.3257delA LOVD deletion exon 1 DMD:c.3257dupA DMD:c.3257dupA LOVD duplication exon 1 DMD:c.3259C>T DMD:c.3259C>T LOVD substitution exon 1 DMD:c.3266_3267insC DMD:c.3266_3267insC LOVD insertion exon 1 DMD:c.3268C>T DMD:c.3268C>T LOVD substitution exon 1 DMD:c.3274A>T DMD:c.3274A>T LOVD substitution exon 1 DMD:c.3276+14_3276+15del DMD:c.3276+14_3276+15del LOVD deletion intron 1 DMD:c.3276+1G>A DMD:c.3276+1G>A LOVD substitution intron 1 DMD:c.3276+228T>C DMD:c.3276+228T>C LOVD substitution intron 1 DMD:c.3276+2T>G DMD:c.3276+2T>G LOVD substitution intron 1 DMD:c.3276+427T>C DMD:c.3276+427T>C LOVD substitution intron 1 DMD:c.3277-152A>G DMD:c.3277-152A>G LOVD substitution intron 1 DMD:c.3277-1G>A DMD:c.3277-1G>A LOVD substitution intron 1 DMD:c.3277-1G>T DMD:c.3277-1G>T LOVD substitution intron 1 DMD:c.3277-231T>G DMD:c.3277-231T>G LOVD substitution intron 1 DMD:c.3277-30C>T DMD:c.3277-30C>T LOVD substitution intron 1 DMD:c.3277-345G>A DMD:c.3277-345G>A LOVD substitution intron 1 DMD:c.3281T>G DMD:c.3281T>G LOVD substitution exon 1 DMD:c.329T>A DMD:c.329T>A LOVD substitution exon 1 DMD:c.3300A>C DMD:c.3300A>C LOVD substitution exon 1 DMD:c.3304C>T DMD:c.3304C>T LOVD substitution exon 1 DMD:c.3326A>T DMD:c.3326A>T LOVD substitution exon 1 DMD:c.3326delA DMD:c.3326delA LOVD deletion exon 1 DMD:c.3326dupA DMD:c.3326dupA LOVD duplication exon 1 DMD:c.3336delG DMD:c.3336delG LOVD deletion exon 1 DMD:c.3337C>T DMD:c.3337C>T LOVD substitution exon 1 DMD:c.3340A>T DMD:c.3340A>T LOVD substitution exon 1 DMD:c.3347delA DMD:c.3347delA LOVD deletion exon 1 DMD:c.3347_3350del DMD:c.3347_3350del LOVD deletion exon 1 DMD:c.3351T>G DMD:c.3351T>G LOVD substitution exon 1 DMD:c.3352G>T DMD:c.3352G>T LOVD substitution exon 1 DMD:c.3363_3364del DMD:c.3363_3364del LOVD deletion exon 1 DMD:c.3369_3370del DMD:c.3369_3370del LOVD deletion exon 1 DMD:c.3373dupT DMD:c.3373dupT LOVD duplication exon 1 DMD:c.3392T>C DMD:c.3392T>C LOVD substitution exon 1 DMD:c.3397G>T DMD:c.3397G>T LOVD substitution exon 1 DMD:c.3406A>T DMD:c.3406A>T LOVD substitution exon 1 DMD:c.3408_3420del DMD:c.3408_3420del LOVD deletion exon 1 DMD:c.3409C>T DMD:c.3409C>T LOVD substitution exon 1 DMD:c.3413G>A DMD:c.3413G>A LOVD substitution exon 1 DMD:c.3423G>T DMD:c.3423G>T LOVD substitution exon 1 DMD:c.3427C>T DMD:c.3427C>T LOVD substitution exon 1 DMD:c.3430C>T DMD:c.3430C>T LOVD substitution exon 1 DMD:c.3432+1G>A DMD:c.3432+1G>A LOVD substitution intron 1 DMD:c.3432+1G>C DMD:c.3432+1G>C LOVD substitution intron 1 DMD:c.3432+1G>T DMD:c.3432+1G>T LOVD substitution intron 1 DMD:c.3432+2036A>G DMD:c.3432+2036A>G LOVD substitution intron 1 DMD:c.3432+2240A>G DMD:c.3432+2240A>G LOVD substitution intron 1 DMD:c.3432+2T>C DMD:c.3432+2T>C LOVD substitution intron 1 DMD:c.3432+36C>T DMD:c.3432+36C>T LOVD substitution intron 1 DMD:c.3432+37G>A DMD:c.3432+37G>A LOVD substitution intron 1 DMD:c.3432+3A>G DMD:c.3432+3A>G LOVD substitution intron 1 DMD:c.3432+3A>T DMD:c.3432+3A>T LOVD substitution intron 1 DMD:c.3432G>A DMD:c.3432G>A LOVD substitution exon 1 DMD:c.3433-1G>A DMD:c.3433-1G>A LOVD substitution intron 1 DMD:c.3433-5_3434del DMD:c.3433-5_3434del LOVD deletion intron 1 DMD:c.3433delG DMD:c.3433delG LOVD deletion exon 1 DMD:c.3445A>T DMD:c.3445A>T LOVD substitution exon 1 DMD:c.3447_3448delinsTT DMD:c.3447_3448delinsTT LOVD complex exon 1 DMD:c.3464_3471del DMD:c.3464_3471del LOVD deletion exon 1 DMD:c.3469G>T DMD:c.3469G>T LOVD substitution exon 1 DMD:c.3470delA DMD:c.3470delA LOVD deletion exon 1 DMD:c.3472A>T DMD:c.3472A>T LOVD substitution exon 1 DMD:c.3478_3479del DMD:c.3478_3479del LOVD deletion exon 1 DMD:c.347T>C DMD:c.347T>C LOVD substitution exon 1 DMD:c.3500C>G DMD:c.3500C>G LOVD substitution exon 1 DMD:c.3500_3501del DMD:c.3500_3501del LOVD deletion exon 1 DMD:c.3513A>G DMD:c.3513A>G LOVD substitution exon 1 DMD:c.3515G>A DMD:c.3515G>A LOVD substitution exon 1 DMD:c.3516G>A DMD:c.3516G>A LOVD substitution exon 1 DMD:c.3523C>T DMD:c.3523C>T LOVD substitution exon 1 DMD:c.3535G>T DMD:c.3535G>T LOVD substitution exon 1 DMD:c.3543T>G DMD:c.3543T>G LOVD substitution exon 1 DMD:c.3544G>T DMD:c.3544G>T LOVD substitution exon 1 DMD:c.354G>A DMD:c.354G>A LOVD substitution exon 1 DMD:c.3556G>T DMD:c.3556G>T LOVD substitution exon 1 DMD:c.355C>T DMD:c.355C>T LOVD substitution exon 1 DMD:c.3562A>T DMD:c.3562A>T LOVD substitution exon 1 DMD:c.357+1G>A DMD:c.357+1G>A LOVD substitution intron 1 DMD:c.357+1G>C DMD:c.357+1G>C LOVD substitution intron 1 DMD:c.357+1G>T DMD:c.357+1G>T LOVD substitution intron 1 DMD:c.357+298dupA DMD:c.357+298dupA LOVD duplication intron 1 DMD:c.357+2T>A DMD:c.357+2T>A LOVD substitution intron 1 DMD:c.357+2T>G DMD:c.357+2T>G LOVD substitution intron 1 DMD:c.357+351_357+352insC DMD:c.357+351_357+352insC LOVD insertion intron 1 DMD:c.357+42T>C DMD:c.357+42T>C LOVD substitution intron 1 DMD:c.357+43dupC DMD:c.357+43dupC LOVD duplication intron 1 DMD:c.357+628_649+15291delinsATG DMD:c.357+628_649+15291delinsATG LOVD complex intron 1 DMD:c.358-1330_649+38946del DMD:c.358-1330_649+38946del LOVD deletion intron 1 DMD:c.358-139G>A DMD:c.358-139G>A LOVD substitution intron 1 DMD:c.358-1G>A DMD:c.358-1G>A LOVD substitution intron 1 DMD:c.358-2A>G DMD:c.358-2A>G LOVD substitution intron 1 DMD:c.358-2A>T DMD:c.358-2A>T LOVD substitution intron 1 DMD:c.358-428C>T DMD:c.358-428C>T LOVD substitution intron 1 DMD:c.358-51G>C DMD:c.358-51G>C LOVD substitution intron 1 DMD:c.358-73C>T DMD:c.358-73C>T LOVD substitution intron 1 DMD:c.358-80T>G DMD:c.358-80T>G LOVD substitution intron 1 DMD:c.3580C>T DMD:c.3580C>T LOVD substitution exon 1 DMD:c.358delG DMD:c.358delG LOVD deletion exon 1 DMD:c.3595G>T DMD:c.3595G>T LOVD substitution exon 1 DMD:c.3603+15delA DMD:c.3603+15delA LOVD deletion intron 1 DMD:c.3603+15dupA DMD:c.3603+15dupA LOVD duplication intron 1 DMD:c.3603+1G>T DMD:c.3603+1G>T LOVD substitution intron 1 DMD:c.3603+2dupT DMD:c.3603+2dupT LOVD duplication intron 1 DMD:c.3603+2T>A DMD:c.3603+2T>A LOVD substitution intron 1 DMD:c.3603+2T>C DMD:c.3603+2T>C LOVD substitution intron 1 DMD:c.3603+2T>G DMD:c.3603+2T>G LOVD substitution intron 1 DMD:c.3603+3A>T DMD:c.3603+3A>T LOVD substitution intron 1 DMD:c.3603+52delA DMD:c.3603+52delA LOVD deletion intron 1 DMD:c.3603+8A>G DMD:c.3603+8A>G LOVD substitution intron 1 DMD:c.3604-51dupT DMD:c.3604-51dupT LOVD duplication intron 1 DMD:c.3613delG DMD:c.3613delG LOVD deletion exon 1 DMD:c.3613G>A DMD:c.3613G>A LOVD substitution exon 1 DMD:c.361A>T DMD:c.361A>T LOVD substitution exon 1 DMD:c.3622C>T DMD:c.3622C>T LOVD substitution exon 1 DMD:c.3628_3665del DMD:c.3628_3665del LOVD deletion exon 1 DMD:c.3630delA DMD:c.3630delA LOVD deletion exon 1 DMD:c.3631G>T DMD:c.3631G>T LOVD substitution exon 1 DMD:c.364_365delinsT DMD:c.364_365delinsT LOVD complex exon 1 DMD:c.3679C>T DMD:c.3679C>T LOVD substitution exon 1 DMD:c.367_368delGT DMD:c.367_368delGT LOVD deletion exon 1 DMD:c.368dupC DMD:c.368dupC LOVD duplication exon 1 DMD:c.3700G>T DMD:c.3700G>T LOVD substitution exon 1 DMD:c.3705C>T DMD:c.3705C>T LOVD substitution exon 1 DMD:c.3709A>T DMD:c.3709A>T LOVD substitution exon 1 DMD:c.3713dupA DMD:c.3713dupA LOVD duplication exon 1 DMD:c.3727_3728del DMD:c.3727_3728del LOVD deletion exon 1 DMD:c.372delG DMD:c.372delG LOVD deletion exon 1 DMD:c.3734C>T DMD:c.3734C>T LOVD substitution exon 1 DMD:c.3736_3742del DMD:c.3736_3742del LOVD deletion exon 1 DMD:c.3742C>T DMD:c.3742C>T LOVD substitution exon 1 DMD:c.3746G>A DMD:c.3746G>A LOVD substitution exon 1 DMD:c.3766_3767insT DMD:c.3766_3767insT LOVD insertion exon 1 DMD:c.3768delG DMD:c.3768delG LOVD deletion exon 1 DMD:c.377delA DMD:c.377delA LOVD deletion exon 1 DMD:c.3784delG DMD:c.3784delG LOVD deletion exon 1 DMD:c.3786+183T>C DMD:c.3786+183T>C LOVD substitution intron 1 DMD:c.3786+296C>T DMD:c.3786+296C>T LOVD substitution intron 1 DMD:c.3786+30G>T DMD:c.3786+30G>T LOVD substitution intron 1 DMD:c.3786+338G>A DMD:c.3786+338G>A LOVD substitution intron 1 DMD:c.3787-18T>C DMD:c.3787-18T>C LOVD substitution intron 1 DMD:c.3787-843C>A DMD:c.3787-843C>A LOVD substitution intron 1 DMD:c.3795G>A DMD:c.3795G>A LOVD substitution exon 1 DMD:c.379_380del DMD:c.379_380del LOVD deletion exon 1 DMD:c.3801T>A DMD:c.3801T>A LOVD substitution exon 1 DMD:c.3804G>A DMD:c.3804G>A LOVD substitution exon 1 DMD:c.3822C>A DMD:c.3822C>A LOVD substitution exon 1 DMD:c.3822C>G DMD:c.3822C>G LOVD substitution exon 1 DMD:c.3832G>C DMD:c.3832G>C LOVD substitution exon 1 DMD:c.3864delA DMD:c.3864delA LOVD deletion exon 1 DMD:c.3867_3876del DMD:c.3867_3876del LOVD deletion exon 1 DMD:c.3868A>T DMD:c.3868A>T LOVD substitution exon 1 DMD:c.386delC DMD:c.386delC LOVD deletion exon 1 DMD:c.3892G>T DMD:c.3892G>T LOVD substitution exon 1 DMD:c.3907dupT DMD:c.3907dupT LOVD duplication exon 1 DMD:c.3908_3909del DMD:c.3908_3909del LOVD deletion exon 1 DMD:c.3914dupT DMD:c.3914dupT LOVD duplication exon 1 DMD:c.3921+128C>T DMD:c.3921+128C>T LOVD substitution intron 1 DMD:c.3921+146C>G DMD:c.3921+146C>G LOVD substitution intron 1 DMD:c.3921+1_3921+2dup DMD:c.3921+1_3921+2dup LOVD duplication intron 1 DMD:c.3921+271G>C DMD:c.3921+271G>C LOVD substitution intron 1 DMD:c.3921+30A>G DMD:c.3921+30A>G LOVD substitution intron 1 DMD:c.3922-204C>G DMD:c.3922-204C>G LOVD substitution intron 1 DMD:c.3922-352T>G DMD:c.3922-352T>G LOVD substitution intron 1 DMD:c.3928_3929delinsTTG DMD:c.3928_3929delinsTTG LOVD complex exon 1 DMD:c.392T>A DMD:c.392T>A LOVD substitution exon 1 DMD:c.3934_3938del DMD:c.3934_3938del LOVD deletion exon 1 DMD:c.3935T>A DMD:c.3935T>A LOVD substitution exon 1 DMD:c.3940C>T DMD:c.3940C>T LOVD substitution exon 1 DMD:c.3947C>A DMD:c.3947C>A LOVD substitution exon 1 DMD:c.3947_3948del DMD:c.3947_3948del LOVD deletion exon 1 DMD:c.3952G>C DMD:c.3952G>C LOVD substitution exon 1 DMD:c.3959delC DMD:c.3959delC LOVD deletion exon 1 DMD:c.3964C>T DMD:c.3964C>T LOVD substitution exon 1 DMD:c.3970C>T DMD:c.3970C>T LOVD substitution exon 1 DMD:c.397C>T DMD:c.397C>T LOVD substitution exon 1 DMD:c.3982C>T DMD:c.3982C>T LOVD substitution exon 1 DMD:c.4000G>T DMD:c.4000G>T LOVD substitution exon 1 DMD:c.4012dupG DMD:c.4012dupG LOVD duplication exon 1 DMD:c.4012G>T DMD:c.4012G>T LOVD substitution exon 1 DMD:c.402_405del DMD:c.402_405del LOVD deletion exon 1 DMD:c.4033G>T DMD:c.4033G>T LOVD substitution exon 1 DMD:c.4033_4045del DMD:c.4033_4045del LOVD deletion exon 1 DMD:c.4057G>T DMD:c.4057G>T LOVD substitution exon 1 DMD:c.4064A>T DMD:c.4064A>T LOVD substitution exon 1 DMD:c.4071+179C>G DMD:c.4071+179C>G LOVD substitution intron 1 DMD:c.4071+1G>A DMD:c.4071+1G>A LOVD substitution intron 1 DMD:c.4071+1G>C DMD:c.4071+1G>C LOVD substitution intron 1 DMD:c.4071+1G>T DMD:c.4071+1G>T LOVD substitution intron 1 DMD:c.4071+2T>A DMD:c.4071+2T>A LOVD substitution intron 1 DMD:c.4071+2T>C DMD:c.4071+2T>C LOVD substitution intron 1 DMD:c.4071+344dupG DMD:c.4071+344dupG LOVD duplication intron 1 DMD:c.4071+409T>G DMD:c.4071+409T>G LOVD substitution intron 1 DMD:c.4071+8503T>C DMD:c.4071+8503T>C LOVD substitution intron 1 DMD:c.4071+8595A>G DMD:c.4071+8595A>G LOVD substitution intron 1 DMD:c.4071G>C DMD:c.4071G>C LOVD substitution exon 1 DMD:c.4072-10947T>C DMD:c.4072-10947T>C LOVD substitution intron 1 DMD:c.4072-136C>T DMD:c.4072-136C>T LOVD substitution intron 1 DMD:c.4072-185T>A DMD:c.4072-185T>A LOVD substitution intron 1 DMD:c.4072-2825G>C DMD:c.4072-2825G>C LOVD substitution intron 1 DMD:c.4072-2delA DMD:c.4072-2delA LOVD deletion intron 1 DMD:c.4072-319C>T DMD:c.4072-319C>T LOVD substitution intron 1 DMD:c.4072-356A>C DMD:c.4072-356A>C LOVD substitution intron 1 DMD:c.4072-389G>T DMD:c.4072-389G>T LOVD substitution intron 1 DMD:c.4072-396T>A DMD:c.4072-396T>A LOVD substitution intron 1 DMD:c.4072-407T>C DMD:c.4072-407T>C LOVD substitution intron 1 DMD:c.4072-473T>A DMD:c.4072-473T>A LOVD substitution intron 1 DMD:c.4072-5382G>A DMD:c.4072-5382G>A LOVD substitution intron 1 DMD:c.4072-541A>G DMD:c.4072-541A>G LOVD substitution intron 1 DMD:c.4072-582A>T DMD:c.4072-582A>T LOVD substitution intron 1 DMD:c.4072-65C>T DMD:c.4072-65C>T LOVD substitution intron 1 DMD:c.4072-668T>C DMD:c.4072-668T>C LOVD substitution intron 1 DMD:c.4072-710T>C DMD:c.4072-710T>C LOVD substitution intron 1 DMD:c.4072-737G>A DMD:c.4072-737G>A LOVD substitution intron 1 DMD:c.4072-7823T>G DMD:c.4072-7823T>G LOVD substitution intron 1 DMD:c.4084C>T DMD:c.4084C>T LOVD substitution exon 1 DMD:c.4087A>T DMD:c.4087A>T LOVD substitution exon 1 DMD:c.4099C>T DMD:c.4099C>T LOVD substitution exon 1 DMD:c.409G>T DMD:c.409G>T LOVD substitution exon 1 DMD:c.40_41del DMD:c.40_41del LOVD deletion exon 1 DMD:c.4100delA DMD:c.4100delA LOVD deletion exon 1 DMD:c.4103delG DMD:c.4103delG LOVD deletion exon 1 DMD:c.4108C>T DMD:c.4108C>T LOVD substitution exon 1 DMD:c.4117C>T DMD:c.4117C>T LOVD substitution exon 1 DMD:c.4126_4135del DMD:c.4126_4135del LOVD deletion exon 1 DMD:c.4131A>T DMD:c.4131A>T LOVD substitution exon 1 DMD:c.4147C>T DMD:c.4147C>T LOVD substitution exon 1 DMD:c.4150G>T DMD:c.4150G>T LOVD substitution exon 1 DMD:c.4151delA DMD:c.4151delA LOVD deletion exon 1 DMD:c.4162T>G DMD:c.4162T>G LOVD substitution exon 1 DMD:c.4174C>T DMD:c.4174C>T LOVD substitution exon 1 DMD:c.419T>A DMD:c.419T>A LOVD substitution exon 1 DMD:c.4213C>T DMD:c.4213C>T LOVD substitution exon 1 DMD:c.4231dupC DMD:c.4231dupC LOVD duplication exon 1 DMD:c.4233+1273C>T DMD:c.4233+1273C>T LOVD substitution intron 1 DMD:c.4233+1880A>G DMD:c.4233+1880A>G LOVD substitution intron 1 DMD:c.4233+2200G>A DMD:c.4233+2200G>A LOVD substitution intron 1 DMD:c.4233+2C>T DMD:c.4233+2C>T LOVD substitution intron 1 DMD:c.4233+47T>A DMD:c.4233+47T>A LOVD substitution intron 1 DMD:c.4234-13A>G DMD:c.4234-13A>G LOVD substitution intron 1 DMD:c.4240C>T DMD:c.4240C>T LOVD substitution exon 1 DMD:c.4250T>A DMD:c.4250T>A LOVD substitution exon 1 DMD:c.4275A>G DMD:c.4275A>G LOVD substitution exon 1 DMD:c.4285A>T DMD:c.4285A>T LOVD substitution exon 1 DMD:c.4290_4291del DMD:c.4290_4291del LOVD deletion exon 1 DMD:c.4294C>T DMD:c.4294C>T LOVD substitution exon 1 DMD:c.429G>A DMD:c.429G>A LOVD substitution exon 1 DMD:c.4303G>T DMD:c.4303G>T LOVD substitution exon 1 DMD:c.4315dupA DMD:c.4315dupA LOVD duplication exon 1 DMD:c.431T>A DMD:c.431T>A LOVD substitution exon 1 DMD:c.4332_4335del DMD:c.4332_4335del LOVD deletion exon 1 DMD:c.433C>T DMD:c.433C>T LOVD substitution exon 1 DMD:c.433delC DMD:c.433delC LOVD deletion exon 1 DMD:c.4344+17A>T DMD:c.4344+17A>T LOVD substitution intron 1 DMD:c.4344+29G>A DMD:c.4344+29G>A LOVD substitution intron 1 DMD:c.4344+39T>A DMD:c.4344+39T>A LOVD substitution intron 1 DMD:c.4345-39G>C DMD:c.4345-39G>C LOVD substitution intron 1 DMD:c.4350delA DMD:c.4350delA LOVD deletion exon 1 DMD:c.4350dupA DMD:c.4350dupA LOVD duplication exon 1 DMD:c.4352T>A DMD:c.4352T>A LOVD substitution exon 1 DMD:c.4363dupT DMD:c.4363dupT LOVD duplication exon 1 DMD:c.4375C>T DMD:c.4375C>T LOVD substitution exon 1 DMD:c.4384C>T DMD:c.4384C>T LOVD substitution exon 1 DMD:c.4405C>T DMD:c.4405C>T LOVD substitution exon 1 DMD:c.4406A>T DMD:c.4406A>T LOVD substitution exon 1 DMD:c.440C>A DMD:c.440C>A LOVD substitution exon 1 DMD:c.440C>G DMD:c.440C>G LOVD substitution exon 1 DMD:c.4414C>T DMD:c.4414C>T LOVD substitution exon 1 DMD:c.4414delC DMD:c.4414delC LOVD deletion exon 1 DMD:c.4457delC DMD:c.4457delC LOVD deletion exon 1 DMD:c.4471_4472del DMD:c.4471_4472del LOVD deletion exon 1 DMD:c.4483C>T DMD:c.4483C>T LOVD substitution exon 1 DMD:c.450T>G DMD:c.450T>G LOVD substitution exon 1 DMD:c.4518+1G>A DMD:c.4518+1G>A LOVD substitution intron 1 DMD:c.4518+1G>C DMD:c.4518+1G>C LOVD substitution intron 1 DMD:c.4518+2T>G DMD:c.4518+2T>G LOVD substitution intron 1 DMD:c.4518+5G>A DMD:c.4518+5G>A LOVD substitution intron 1 DMD:c.4518+78_4518+79del DMD:c.4518+78_4518+79del LOVD deletion intron 1 DMD:c.4518G>A DMD:c.4518G>A LOVD substitution exon 1 DMD:c.4519-136C>T DMD:c.4519-136C>T LOVD substitution intron 1 DMD:c.4519-1G>C DMD:c.4519-1G>C LOVD substitution intron 1 DMD:c.4519-23T>C DMD:c.4519-23T>C LOVD substitution intron 1 DMD:c.4519-266_4519-265dup DMD:c.4519-266_4519-265dup LOVD duplication intron 1 DMD:c.4519-283G>T DMD:c.4519-283G>T LOVD substitution intron 1 DMD:c.4519-2A>T DMD:c.4519-2A>T LOVD substitution intron 1 DMD:c.4519-2_4523del DMD:c.4519-2_4523del LOVD deletion intron 1 DMD:c.4519-319A>G DMD:c.4519-319A>G LOVD substitution intron 1 DMD:c.4519-34T>A DMD:c.4519-34T>A LOVD substitution intron 1 DMD:c.4519-3_4522del DMD:c.4519-3_4522del LOVD deletion intron 1 DMD:c.4519-5C>G DMD:c.4519-5C>G LOVD substitution intron 1 DMD:c.4519-95A>C DMD:c.4519-95A>C LOVD substitution intron 1 DMD:c.4527T>A DMD:c.4527T>A LOVD substitution exon 1 DMD:c.4527T>G DMD:c.4527T>G LOVD substitution exon 1 DMD:c.4529A>G DMD:c.4529A>G LOVD substitution exon 1 DMD:c.4536_4540del DMD:c.4536_4540del LOVD deletion exon 1 DMD:c.4538_4541del DMD:c.4538_4541del LOVD deletion exon 1 DMD:c.453T>A DMD:c.453T>A LOVD substitution exon 1 DMD:c.4545_4549del DMD:c.4545_4549del LOVD deletion exon 1 DMD:c.4565delT DMD:c.4565delT LOVD deletion exon 1 DMD:c.4570A>T DMD:c.4570A>T LOVD substitution exon 1 DMD:c.4572delG DMD:c.4572delG LOVD deletion exon 1 DMD:c.457C>T DMD:c.457C>T LOVD substitution exon 1 DMD:c.457dupC DMD:c.457dupC LOVD duplication exon 1 DMD:c.4591C>T DMD:c.4591C>T LOVD substitution exon 1 DMD:c.4600C>T DMD:c.4600C>T LOVD substitution exon 1 DMD:c.4606G>T DMD:c.4606G>T LOVD substitution exon 1 DMD:c.4610A>T DMD:c.4610A>T LOVD substitution exon 1 DMD:c.4618G>T DMD:c.4618G>T LOVD substitution exon 1 DMD:c.4643delT DMD:c.4643delT LOVD deletion exon 1 DMD:c.4662G>C DMD:c.4662G>C LOVD substitution exon 1 DMD:c.4666G>T DMD:c.4666G>T LOVD substitution exon 1 DMD:c.4674+178T>C DMD:c.4674+178T>C LOVD substitution intron 1 DMD:c.4674+1G>A DMD:c.4674+1G>A LOVD substitution intron 1 DMD:c.4674+270A>G DMD:c.4674+270A>G LOVD substitution intron 1 DMD:c.4674+275C>G DMD:c.4674+275C>G LOVD substitution intron 1 DMD:c.4674+71A>G DMD:c.4674+71A>G LOVD substitution intron 1 DMD:c.4675-11A>G DMD:c.4675-11A>G LOVD substitution intron 1 DMD:c.4675-15T>A DMD:c.4675-15T>A LOVD substitution intron 1 DMD:c.4675-1_4679delinsTATGTTAAAATATT DMD:c.4675-1_4679delinsTATGTTAAAATATT LOVD complex intron 1 DMD:c.4675-2A>G DMD:c.4675-2A>G LOVD substitution intron 1 DMD:c.4675-342G>A DMD:c.4675-342G>A LOVD substitution intron 1 DMD:c.4675-370T>C DMD:c.4675-370T>C LOVD substitution intron 1 DMD:c.4675-53G>T DMD:c.4675-53G>T LOVD substitution intron 1 DMD:c.4675-79A>G DMD:c.4675-79A>G LOVD substitution intron 1 DMD:c.4687A>T DMD:c.4687A>T LOVD substitution exon 1 DMD:c.4693C>T DMD:c.4693C>T LOVD substitution exon 1 DMD:c.4697T>A DMD:c.4697T>A LOVD substitution exon 1 DMD:c.4702A>T DMD:c.4702A>T LOVD substitution exon 1 DMD:c.4711A>T DMD:c.4711A>T LOVD substitution exon 1 DMD:c.4720dupC DMD:c.4720dupC LOVD duplication exon 1 DMD:c.4729C>T DMD:c.4729C>T LOVD substitution exon 1 DMD:c.4729delC DMD:c.4729delC LOVD deletion exon 1 DMD:c.4740G>T DMD:c.4740G>T LOVD substitution exon 1 DMD:c.4742delA DMD:c.4742delA LOVD deletion exon 1 DMD:c.474C>G DMD:c.474C>G LOVD substitution exon 1 DMD:c.4757G>A DMD:c.4757G>A LOVD substitution exon 1 DMD:c.4758G>A DMD:c.4758G>A LOVD substitution exon 1 DMD:c.475_476del DMD:c.475_476del LOVD deletion exon 1 DMD:c.4777G>T DMD:c.4777G>T LOVD substitution exon 1 DMD:c.4780delTins37 DMD:c.4780delTins37 LOVD complex exon 1 DMD:c.4786_4787del DMD:c.4786_4787del LOVD deletion exon 1 DMD:c.4793C>A DMD:c.4793C>A LOVD substitution exon 1 DMD:c.4800_4801delinsGT DMD:c.4800_4801delinsGT LOVD complex exon 1 DMD:c.482_484del DMD:c.482_484del LOVD deletion exon 1 DMD:c.4838G>A DMD:c.4838G>A LOVD substitution exon 1 DMD:c.4841delG DMD:c.4841delG LOVD deletion exon 1 DMD:c.4845+1G>A DMD:c.4845+1G>A LOVD substitution intron 1 DMD:c.4845+2T>C DMD:c.4845+2T>C LOVD substitution intron 1 DMD:c.4845+69G>A DMD:c.4845+69G>A LOVD substitution intron 1 DMD:c.4845+706A>G DMD:c.4845+706A>G LOVD substitution intron 1 DMD:c.4846-153G>A DMD:c.4846-153G>A LOVD substitution intron 1 DMD:c.484_493delins500_510 DMD:c.484_493delins500_510 LOVD complex exon 1 DMD:c.4852C>T DMD:c.4852C>T LOVD substitution exon 1 DMD:c.4857delA DMD:c.4857delA LOVD deletion exon 1 DMD:c.4864G>T DMD:c.4864G>T LOVD substitution exon 1 DMD:c.4870C>T DMD:c.4870C>T LOVD substitution exon 1 DMD:c.4870delC DMD:c.4870delC LOVD deletion exon 1 DMD:c.4874delA DMD:c.4874delA LOVD deletion exon 1 DMD:c.4876_4887del DMD:c.4876_4887del LOVD deletion exon 1 DMD:c.4877T>A DMD:c.4877T>A LOVD substitution exon 1 DMD:c.4878G>T DMD:c.4878G>T LOVD substitution exon 1 DMD:c.487T>G DMD:c.487T>G LOVD substitution exon 1 DMD:c.488G>A DMD:c.488G>A LOVD substitution exon 1 DMD:c.4898_4899del DMD:c.4898_4899del LOVD deletion exon 1 DMD:c.4904_4911del DMD:c.4904_4911del LOVD deletion exon 1 DMD:c.4918delA DMD:c.4918delA LOVD deletion exon 1 DMD:c.4925dupT DMD:c.4925dupT LOVD duplication exon 1 DMD:c.4933A>T DMD:c.4933A>T LOVD substitution exon 1 DMD:c.494A>T DMD:c.494A>T LOVD substitution exon 1 DMD:c.4951delG DMD:c.4951delG LOVD deletion exon 1 DMD:c.4954A>T DMD:c.4954A>T LOVD substitution exon 1 DMD:c.4960dupA DMD:c.4960dupA LOVD duplication exon 1 DMD:c.496G>A DMD:c.496G>A LOVD substitution exon 1 DMD:c.4980delG DMD:c.4980delG LOVD deletion exon 1 DMD:c.4996C>T DMD:c.4996C>T LOVD substitution exon 1 DMD:c.4996_5004delinsT DMD:c.4996_5004delinsT LOVD complex exon 1 DMD:c.5009G>A DMD:c.5009G>A LOVD substitution exon 1 DMD:c.5010G>T DMD:c.5010G>T LOVD substitution exon 1 DMD:c.5016T>A DMD:c.5016T>A LOVD substitution exon 1 DMD:c.5020_5021dup DMD:c.5020_5021dup LOVD duplication exon 1 DMD:c.5021T>A DMD:c.5021T>A LOVD substitution exon 1 DMD:c.5025+103G>A DMD:c.5025+103G>A LOVD substitution intron 1 DMD:c.5026-59A>G DMD:c.5026-59A>G LOVD substitution intron 1 DMD:c.5026-6A>G DMD:c.5026-6A>G LOVD substitution intron 1 DMD:c.5026-93A>G DMD:c.5026-93A>G LOVD substitution intron 1 DMD:c.5032C>T DMD:c.5032C>T LOVD substitution exon 1 DMD:c.503C>A DMD:c.503C>A LOVD substitution exon 1 DMD:c.503delC DMD:c.503delC LOVD deletion exon 1 DMD:c.5040C>T DMD:c.5040C>T LOVD substitution exon 1 DMD:c.5044G>T DMD:c.5044G>T LOVD substitution exon 1 DMD:c.5066delA DMD:c.5066delA LOVD deletion exon 1 DMD:c.5068_5070del DMD:c.5068_5070del LOVD deletion exon 1 DMD:c.5071dupA DMD:c.5071dupA LOVD duplication exon 1 DMD:c.507delG DMD:c.507delG LOVD deletion exon 1 DMD:c.5089C>T DMD:c.5089C>T LOVD substitution exon 1 DMD:c.511G>C DMD:c.511G>C LOVD substitution exon 1 DMD:c.5124_5127del DMD:c.5124_5127del LOVD deletion exon 1 DMD:c.5131C>T DMD:c.5131C>T LOVD substitution exon 1 DMD:c.5134C>T DMD:c.5134C>T LOVD substitution exon 1 DMD:c.5139delA DMD:c.5139delA LOVD deletion exon 1 DMD:c.5140delG DMD:c.5140delG LOVD deletion exon 1 DMD:c.5140G>T DMD:c.5140G>T LOVD substitution exon 1 DMD:c.5144A>G DMD:c.5144A>G LOVD substitution exon 1 DMD:c.5151delT DMD:c.5151delT LOVD deletion exon 1 DMD:c.5154+1G>A DMD:c.5154+1G>A LOVD substitution intron 1 DMD:c.5154+2T>C DMD:c.5154+2T>C LOVD substitution intron 1 DMD:c.5154+2T>G DMD:c.5154+2T>G LOVD substitution intron 1 DMD:c.5155-16T>A DMD:c.5155-16T>A LOVD substitution intron 1 DMD:c.5155-3T>G DMD:c.5155-3T>G LOVD substitution intron 1 DMD:c.5155-412A>C DMD:c.5155-412A>C LOVD substitution intron 1 DMD:c.5155-63T>A DMD:c.5155-63T>A LOVD substitution intron 1 DMD:c.5155-9G>A DMD:c.5155-9G>A LOVD substitution intron 1 DMD:c.5159T>A DMD:c.5159T>A LOVD substitution exon 1 DMD:c.515T>A DMD:c.515T>A LOVD substitution exon 1 DMD:c.5163G>C DMD:c.5163G>C LOVD substitution exon 1 DMD:c.5167G>T DMD:c.5167G>T LOVD substitution exon 1 DMD:c.516delC DMD:c.516delC LOVD deletion exon 1 DMD:c.5182C>T DMD:c.5182C>T LOVD substitution exon 1 DMD:c.5188A>T DMD:c.5188A>T LOVD substitution exon 1 DMD:c.5203C>T DMD:c.5203C>T LOVD substitution exon 1 DMD:c.5234G>A DMD:c.5234G>A LOVD substitution exon 1 DMD:c.5255T>G DMD:c.5255T>G LOVD substitution exon 1 DMD:c.5260G>T DMD:c.5260G>T LOVD substitution exon 1 DMD:c.5266C>T DMD:c.5266C>T LOVD substitution exon 1 DMD:c.5269delA DMD:c.5269delA LOVD deletion exon 1 DMD:c.5272_5273del DMD:c.5272_5273del LOVD deletion exon 1 DMD:c.5280C>T DMD:c.5280C>T LOVD substitution exon 1 DMD:c.5287C>T DMD:c.5287C>T LOVD substitution exon 1 DMD:c.5299_5302dup DMD:c.5299_5302dup LOVD duplication exon 1 DMD:c.52A>T DMD:c.52A>T LOVD substitution exon 1 DMD:c.530+11_530+12delinsAC DMD:c.530+11_530+12delinsAC LOVD complex intron 1 DMD:c.530+19C>T DMD:c.530+19C>T LOVD substitution intron 1 DMD:c.530+1delG DMD:c.530+1delG LOVD deletion intron 1 DMD:c.530+1G>T DMD:c.530+1G>T LOVD substitution intron 1 DMD:c.530+7A>T DMD:c.530+7A>T LOVD substitution intron 1 DMD:c.530+86A>G DMD:c.530+86A>G LOVD substitution intron 1 DMD:c.5307delC DMD:c.5307delC LOVD deletion exon 1 DMD:c.531-10T>A DMD:c.531-10T>A LOVD substitution intron 1 DMD:c.531-16T>A DMD:c.531-16T>A LOVD substitution intron 1 DMD:c.531-1G>T DMD:c.531-1G>T LOVD substitution intron 1 DMD:c.5313dupT DMD:c.5313dupT LOVD duplication exon 1 DMD:c.5314A>T DMD:c.5314A>T LOVD substitution exon 1 DMD:c.5324delA DMD:c.5324delA LOVD deletion exon 1 DMD:c.5325+1743_5325+1760del DMD:c.5325+1743_5325+1760del LOVD deletion intron 1 DMD:c.5325+204delC DMD:c.5325+204delC LOVD deletion intron 1 DMD:c.5325+206C>T DMD:c.5325+206C>T LOVD substitution intron 1 DMD:c.5325+482G>A DMD:c.5325+482G>A LOVD substitution intron 1 DMD:c.5325+6588A>T DMD:c.5325+6588A>T LOVD substitution intron 1 DMD:c.5326-22G>T DMD:c.5326-22G>T LOVD substitution intron 1 DMD:c.5326-258A>C DMD:c.5326-258A>C LOVD substitution intron 1 DMD:c.5326-46A>T DMD:c.5326-46A>T LOVD substitution intron 1 DMD:c.5326-485T>A DMD:c.5326-485T>A LOVD substitution intron 1 DMD:c.5326-48C>T DMD:c.5326-48C>T LOVD substitution intron 1 DMD:c.5326-54A>C DMD:c.5326-54A>C LOVD substitution intron 1 DMD:c.5341A>T DMD:c.5341A>T LOVD substitution exon 1 DMD:c.5344G>T DMD:c.5344G>T LOVD substitution exon 1 DMD:c.5350G>T DMD:c.5350G>T LOVD substitution exon 1 DMD:c.5365_5374del DMD:c.5365_5374del LOVD deletion exon 1 DMD:c.5371C>T DMD:c.5371C>T LOVD substitution exon 1 DMD:c.5398G>T DMD:c.5398G>T LOVD substitution exon 1 DMD:c.53delA DMD:c.53delA LOVD deletion exon 1 DMD:c.5401_5402del DMD:c.5401_5402del LOVD deletion exon 1 DMD:c.5404C>T DMD:c.5404C>T LOVD substitution exon 1 DMD:c.5407C>T DMD:c.5407C>T LOVD substitution exon 1 DMD:c.5413delG DMD:c.5413delG LOVD deletion exon 1 DMD:c.5434_5437del DMD:c.5434_5437del LOVD deletion exon 1 DMD:c.5434_5437dup DMD:c.5434_5437dup LOVD duplication exon 1 DMD:c.5444A>G DMD:c.5444A>G LOVD substitution exon 1 DMD:c.5448+148G>T DMD:c.5448+148G>T LOVD substitution intron 1 DMD:c.5448+169A>T DMD:c.5448+169A>T LOVD substitution intron 1 DMD:c.5448+67A>G DMD:c.5448+67A>G LOVD substitution intron 1 DMD:c.5449-117T>C DMD:c.5449-117T>C LOVD substitution intron 1 DMD:c.5449-1G>A DMD:c.5449-1G>A LOVD substitution intron 1 DMD:c.5449-1G>C DMD:c.5449-1G>C LOVD substitution intron 1 DMD:c.5449-463A>G DMD:c.5449-463A>G LOVD substitution intron 1 DMD:c.5449-71T>A DMD:c.5449-71T>A LOVD substitution intron 1 DMD:c.5459A>G DMD:c.5459A>G LOVD substitution exon 1 DMD:c.5461G>T DMD:c.5461G>T LOVD substitution exon 1 DMD:c.5476G>T DMD:c.5476G>T LOVD substitution exon 1 DMD:c.5480T>A DMD:c.5480T>A LOVD substitution exon 1 DMD:c.5487_5488del DMD:c.5487_5488del LOVD deletion exon 1 DMD:c.549G>A DMD:c.549G>A LOVD substitution exon 1 DMD:c.54G>T DMD:c.54G>T LOVD substitution exon 1 DMD:c.5503dupC DMD:c.5503dupC LOVD duplication exon 1 DMD:c.5510delG DMD:c.5510delG LOVD deletion exon 1 DMD:c.5525_5526del DMD:c.5525_5526del LOVD deletion exon 1 DMD:c.5530C>A DMD:c.5530C>A LOVD substitution exon 1 DMD:c.5530C>T DMD:c.5530C>T LOVD substitution exon 1 DMD:c.5533G>T DMD:c.5533G>T LOVD substitution exon 1 DMD:c.5542A>T DMD:c.5542A>T LOVD substitution exon 1 DMD:c.5544_5548del DMD:c.5544_5548del LOVD deletion exon 1 DMD:c.5548_5552del DMD:c.5548_5552del LOVD deletion exon 1 DMD:c.5551C>T DMD:c.5551C>T LOVD substitution exon 1 DMD:c.5551delC DMD:c.5551delC LOVD deletion exon 1 DMD:c.5554C>T DMD:c.5554C>T LOVD substitution exon 1 DMD:c.5561delT DMD:c.5561delT LOVD deletion exon 1 DMD:c.5561T>G DMD:c.5561T>G LOVD substitution exon 1 DMD:c.5563C>T DMD:c.5563C>T LOVD substitution exon 1 DMD:c.5563_5564del DMD:c.5563_5564del LOVD deletion exon 1 DMD:c.5565_5568del DMD:c.5565_5568del LOVD deletion exon 1 DMD:c.5570_5571del DMD:c.5570_5571del LOVD deletion exon 1 DMD:c.5582_5583del DMD:c.5582_5583del LOVD deletion exon 1 DMD:c.5586+238G>A DMD:c.5586+238G>A LOVD substitution intron 1 DMD:c.5586+30G>A DMD:c.5586+30G>A LOVD substitution intron 1 DMD:c.5586+52A>G DMD:c.5586+52A>G LOVD substitution intron 1 DMD:c.5586+61A>T DMD:c.5586+61A>T LOVD substitution intron 1 DMD:c.5586+94_5586+95dup DMD:c.5586+94_5586+95dup LOVD duplication intron 1 DMD:c.5586+96delT DMD:c.5586+96delT LOVD deletion intron 1 DMD:c.5586+96_5586+97del DMD:c.5586+96_5586+97del LOVD deletion intron 1 DMD:c.5587-229A>G DMD:c.5587-229A>G LOVD substitution intron 1 DMD:c.5587-306A>C DMD:c.5587-306A>C LOVD substitution intron 1 DMD:c.5587-308G>T DMD:c.5587-308G>T LOVD substitution intron 1 DMD:c.5587-340T>G DMD:c.5587-340T>G LOVD substitution intron 1 DMD:c.5587-402T>C DMD:c.5587-402T>C LOVD substitution intron 1 DMD:c.5587-85C>T DMD:c.5587-85C>T LOVD substitution intron 1 DMD:c.5602_5605del DMD:c.5602_5605del LOVD deletion exon 1 DMD:c.5608A>T DMD:c.5608A>T LOVD substitution exon 1 DMD:c.5610_5615delinsT DMD:c.5610_5615delinsT LOVD complex exon 1 DMD:c.5611A>T DMD:c.5611A>T LOVD substitution exon 1 DMD:c.5612delA DMD:c.5612delA LOVD deletion exon 1 DMD:c.5615C>T DMD:c.5615C>T LOVD substitution exon 1 DMD:c.5637G>A DMD:c.5637G>A LOVD substitution exon 1 DMD:c.5640T>A DMD:c.5640T>A LOVD substitution exon 1 DMD:c.5641C>T DMD:c.5641C>T LOVD substitution exon 1 DMD:c.5646C>A DMD:c.5646C>A LOVD substitution exon 1 DMD:c.5653C>T DMD:c.5653C>T LOVD substitution exon 1 DMD:c.565C>T DMD:c.565C>T LOVD substitution exon 1 DMD:c.5671A>T DMD:c.5671A>T LOVD substitution exon 1 DMD:c.5689delG DMD:c.5689delG LOVD deletion exon 1 DMD:c.568C>T DMD:c.568C>T LOVD substitution exon 1 DMD:c.5694_5697del DMD:c.5694_5697del LOVD deletion exon 1 DMD:c.5697delA DMD:c.5697delA LOVD deletion exon 1 DMD:c.5697dupA DMD:c.5697dupA LOVD duplication exon 1 DMD:c.5699T>G DMD:c.5699T>G LOVD substitution exon 1 DMD:c.5704_5707del DMD:c.5704_5707del LOVD deletion exon 1 DMD:c.5723A>T DMD:c.5723A>T LOVD substitution exon 1 DMD:c.5724T>C DMD:c.5724T>C LOVD substitution exon 1 DMD:c.5725G>T DMD:c.5725G>T LOVD substitution exon 1 DMD:c.572C>G DMD:c.572C>G LOVD substitution exon 1 DMD:c.5731_5739+1del DMD:c.5731_5739+1del LOVD deletion not within known transcription unit 1 DMD:c.5739+162_5739+1165del DMD:c.5739+162_5739+1165del LOVD deletion intron 1 DMD:c.5739+218G>A DMD:c.5739+218G>A LOVD substitution intron 1 DMD:c.5739+39T>A DMD:c.5739+39T>A LOVD substitution intron 1 DMD:c.5740-14dupG DMD:c.5740-14dupG LOVD duplication intron 1 DMD:c.5740-2A>G DMD:c.5740-2A>G LOVD substitution intron 1 DMD:c.5740-2A>T DMD:c.5740-2A>T LOVD substitution intron 1 DMD:c.5740-33T>C DMD:c.5740-33T>C LOVD substitution intron 1 DMD:c.5740-67G>T DMD:c.5740-67G>T LOVD substitution intron 1 DMD:c.5747_5757del DMD:c.5747_5757del LOVD deletion exon 1 DMD:c.5752G>T DMD:c.5752G>T LOVD substitution exon 1 DMD:c.5758C>T DMD:c.5758C>T LOVD substitution exon 1 DMD:c.5766_5770del DMD:c.5766_5770del LOVD deletion exon 1 DMD:c.5771_5772del DMD:c.5771_5772del LOVD deletion exon 1 DMD:c.5773G>T DMD:c.5773G>T LOVD substitution exon 1 DMD:c.5775G>A DMD:c.5775G>A LOVD substitution exon 1 DMD:c.5800G>T DMD:c.5800G>T LOVD substitution exon 1 DMD:c.580C>T DMD:c.580C>T LOVD substitution exon 1 DMD:c.583C>T DMD:c.583C>T LOVD substitution exon 1 DMD:c.5845delC DMD:c.5845delC LOVD deletion exon 1 DMD:c.5848_5858del DMD:c.5848_5858del LOVD deletion exon 1 DMD:c.5851C>T DMD:c.5851C>T LOVD substitution exon 1 DMD:c.5867G>A DMD:c.5867G>A LOVD substitution exon 1 DMD:c.587T>C DMD:c.587T>C LOVD substitution exon 1 DMD:c.5893C>T DMD:c.5893C>T LOVD substitution exon 1 DMD:c.5899C>T DMD:c.5899C>T LOVD substitution exon 1 DMD:c.58delA DMD:c.58delA LOVD deletion exon 1 DMD:c.5902A>T DMD:c.5902A>T LOVD substitution exon 1 DMD:c.5917C>T DMD:c.5917C>T LOVD substitution exon 1 DMD:c.5922+16C>G DMD:c.5922+16C>G LOVD substitution intron 1 DMD:c.5922+2T>C DMD:c.5922+2T>C LOVD substitution intron 1 DMD:c.5922+3161C>G DMD:c.5922+3161C>G LOVD substitution intron 1 DMD:c.5922+3G>C DMD:c.5922+3G>C LOVD substitution intron 1 DMD:c.5922+5G>A DMD:c.5922+5G>A LOVD substitution intron 1 DMD:c.5922+7503A>G DMD:c.5922+7503A>G LOVD substitution intron 1 DMD:c.5922+77_5922+78del DMD:c.5922+77_5922+78del LOVD deletion intron 1 DMD:c.5923-179G>A DMD:c.5923-179G>A LOVD substitution intron 1 DMD:c.5923-2047C>G DMD:c.5923-2047C>G LOVD substitution intron 1 DMD:c.5923-212A>G DMD:c.5923-212A>G LOVD substitution intron 1 DMD:c.5923-6139G>A DMD:c.5923-6139G>A LOVD substitution intron 1 DMD:c.5923-6257C>G DMD:c.5923-6257C>G LOVD substitution intron 1 DMD:c.5923-6769A>T DMD:c.5923-6769A>T LOVD substitution intron 1 DMD:c.5923-9931T>C DMD:c.5923-9931T>C LOVD substitution intron 1 DMD:c.5957_5958del DMD:c.5957_5958del LOVD deletion exon 1 DMD:c.5969delC DMD:c.5969delC LOVD deletion exon 1 DMD:c.596C>A DMD:c.596C>A LOVD substitution exon 1 DMD:c.597_614delinsCTAGTTTC DMD:c.597_614delinsCTAGTTTC LOVD complex exon 1 DMD:c.5985T>G DMD:c.5985T>G LOVD substitution exon 1 DMD:c.6028G>T DMD:c.6028G>T LOVD substitution exon 1 DMD:c.6036dupA DMD:c.6036dupA LOVD duplication exon 1 DMD:c.6037G>T DMD:c.6037G>T LOVD substitution exon 1 DMD:c.6072T>A DMD:c.6072T>A LOVD substitution exon 1 DMD:c.6100delC DMD:c.6100delC LOVD deletion exon 1 DMD:c.6103G>T DMD:c.6103G>T LOVD substitution exon 1 DMD:c.6105G>T DMD:c.6105G>T LOVD substitution exon 1 DMD:c.6112_6113del DMD:c.6112_6113del LOVD deletion exon 1 DMD:c.6117+383T>C DMD:c.6117+383T>C LOVD substitution intron 1 DMD:c.6117G>A DMD:c.6117G>A LOVD substitution exon 1 DMD:c.6117G>C DMD:c.6117G>C LOVD substitution exon 1 DMD:c.6118-143C>A DMD:c.6118-143C>A LOVD substitution intron 1 DMD:c.6118-14T>G DMD:c.6118-14T>G LOVD substitution intron 1 DMD:c.6118-150T>C DMD:c.6118-150T>C LOVD substitution intron 1 DMD:c.6118-1G>A DMD:c.6118-1G>A LOVD substitution intron 1 DMD:c.6118-2642C>A DMD:c.6118-2642C>A LOVD substitution intron 1 DMD:c.6118-58delT DMD:c.6118-58delT LOVD deletion intron 1 DMD:c.6118-58dupT DMD:c.6118-58dupT LOVD duplication intron 1 DMD:c.6118-59_6118-58dup DMD:c.6118-59_6118-58dup LOVD duplication intron 1 DMD:c.6118-63A>T DMD:c.6118-63A>T LOVD substitution intron 1 DMD:c.6118-63_6118-62del DMD:c.6118-63_6118-62del LOVD deletion intron 1 DMD:c.6118-63_6118-62dup DMD:c.6118-63_6118-62dup LOVD duplication intron 1 DMD:c.6118-65_6118-62dup DMD:c.6118-65_6118-62dup LOVD duplication intron 1 DMD:c.6118-7527C>A DMD:c.6118-7527C>A LOVD substitution intron 1 DMD:c.6118-7672T>C DMD:c.6118-7672T>C LOVD substitution intron 1 DMD:c.6128_6131del DMD:c.6128_6131del LOVD deletion exon 1 DMD:c.615T>A DMD:c.615T>A LOVD substitution exon 1 DMD:c.616C>T DMD:c.616C>T LOVD substitution exon 1 DMD:c.6183dupA DMD:c.6183dupA LOVD duplication exon 1 DMD:c.6200delC DMD:c.6200delC LOVD deletion exon 1 DMD:c.6203delC DMD:c.6203delC LOVD deletion exon 1 DMD:c.6208G>T DMD:c.6208G>T LOVD substitution exon 1 DMD:c.620dupT DMD:c.620dupT LOVD duplication exon 1 DMD:c.620T>G DMD:c.620T>G LOVD substitution exon 1 DMD:c.6223C>T DMD:c.6223C>T LOVD substitution exon 1 DMD:c.6238C>T DMD:c.6238C>T LOVD substitution exon 1 DMD:c.6255G>A DMD:c.6255G>A LOVD substitution exon 1 DMD:c.6257_6261delinsGAAAAT DMD:c.6257_6261delinsGAAAAT LOVD complex exon 1 DMD:c.625delA DMD:c.625delA LOVD deletion exon 1 DMD:c.6271delA DMD:c.6271delA LOVD deletion exon 1 DMD:c.6272delT DMD:c.6272delT LOVD deletion exon 1 DMD:c.6276C>G DMD:c.6276C>G LOVD substitution exon 1 DMD:c.6283C>T DMD:c.6283C>T LOVD substitution exon 1 DMD:c.6290+1G>A DMD:c.6290+1G>A LOVD substitution intron 1 DMD:c.6290+1G>T DMD:c.6290+1G>T LOVD substitution intron 1 DMD:c.6290+2525T>C DMD:c.6290+2525T>C LOVD substitution intron 1 DMD:c.6290+26908C>G DMD:c.6290+26908C>G LOVD substitution intron 1 DMD:c.6290+27283G>A DMD:c.6290+27283G>A LOVD substitution intron 1 DMD:c.6290+27545C>T DMD:c.6290+27545C>T LOVD substitution intron 1 DMD:c.6290+27T>A DMD:c.6290+27T>A LOVD substitution intron 1 DMD:c.6290+2T>C DMD:c.6290+2T>C LOVD substitution intron 1 DMD:c.6290+5delG DMD:c.6290+5delG LOVD deletion intron 1 DMD:c.6290+5G>A DMD:c.6290+5G>A LOVD substitution intron 1 DMD:c.6290+92dupA DMD:c.6290+92dupA LOVD duplication intron 1 DMD:c.6291-102G>A DMD:c.6291-102G>A LOVD substitution intron 1 DMD:c.6291-1058C>T DMD:c.6291-1058C>T LOVD substitution intron 1 DMD:c.6291-1098C>G DMD:c.6291-1098C>G LOVD substitution intron 1 DMD:c.6291-115G>A DMD:c.6291-115G>A LOVD substitution intron 1 DMD:c.6291-115G>T DMD:c.6291-115G>T LOVD substitution intron 1 DMD:c.6291-1313G>A DMD:c.6291-1313G>A LOVD substitution intron 1 DMD:c.6291-1430T>C DMD:c.6291-1430T>C LOVD substitution intron 1 DMD:c.6291-1760T>G DMD:c.6291-1760T>G LOVD substitution intron 1 DMD:c.6291-179G>A DMD:c.6291-179G>A LOVD substitution intron 1 DMD:c.6291-182_6291-180del DMD:c.6291-182_6291-180del LOVD deletion intron 1 DMD:c.6291-1G>A DMD:c.6291-1G>A LOVD substitution intron 1 DMD:c.6291-1G>T DMD:c.6291-1G>T LOVD substitution intron 1 DMD:c.6291-2033C>T DMD:c.6291-2033C>T LOVD substitution intron 1 DMD:c.6291-2291A>G DMD:c.6291-2291A>G LOVD substitution intron 1 DMD:c.6291-2441T>C DMD:c.6291-2441T>C LOVD substitution intron 1 DMD:c.6291-26397G>C DMD:c.6291-26397G>C LOVD substitution intron 1 DMD:c.6291-2678A>C DMD:c.6291-2678A>C LOVD substitution intron 1 DMD:c.6291-2777G>A DMD:c.6291-2777G>A LOVD substitution intron 1 DMD:c.6291-2781A>C DMD:c.6291-2781A>C LOVD substitution intron 1 DMD:c.6291-2782C>A DMD:c.6291-2782C>A LOVD substitution intron 1 DMD:c.6291-2854G>A DMD:c.6291-2854G>A LOVD substitution intron 1 DMD:c.6291-30018G>A DMD:c.6291-30018G>A LOVD substitution intron 1 DMD:c.6291-30104T>C DMD:c.6291-30104T>C LOVD substitution intron 1 DMD:c.6291-44C>G DMD:c.6291-44C>G LOVD substitution intron 1 DMD:c.6291-599T>C DMD:c.6291-599T>C LOVD substitution intron 1 DMD:c.6292C>T DMD:c.6292C>T LOVD substitution exon 1 DMD:c.6292_6293insT DMD:c.6292_6293insT LOVD insertion exon 1 DMD:c.6310G>T DMD:c.6310G>T LOVD substitution exon 1 DMD:c.6318G>A DMD:c.6318G>A LOVD substitution exon 1 DMD:c.6322C>T DMD:c.6322C>T LOVD substitution exon 1 DMD:c.6327dupT DMD:c.6327dupT LOVD duplication exon 1 DMD:c.6348delT DMD:c.6348delT LOVD deletion exon 1 DMD:c.6349_6364del DMD:c.6349_6364del LOVD deletion exon 1 DMD:c.6352C>T DMD:c.6352C>T LOVD substitution exon 1 DMD:c.6364G>T DMD:c.6364G>T LOVD substitution exon 1 DMD:c.6373C>T DMD:c.6373C>T LOVD substitution exon 1 DMD:c.6385_6388del DMD:c.6385_6388del LOVD deletion exon 1 DMD:c.6391C>T DMD:c.6391C>T LOVD substitution exon 1 DMD:c.6393_6394del DMD:c.6393_6394del LOVD deletion exon 1 DMD:c.6423C>A DMD:c.6423C>A LOVD substitution exon 1 DMD:c.6423C>G DMD:c.6423C>G LOVD substitution exon 1 DMD:c.6423C>T DMD:c.6423C>T LOVD substitution exon 1 DMD:c.6427_6437del DMD:c.6427_6437del LOVD deletion exon 1 DMD:c.6429G>A DMD:c.6429G>A LOVD substitution exon 1 DMD:c.6430dupT DMD:c.6430dupT LOVD duplication exon 1 DMD:c.6432T>A DMD:c.6432T>A LOVD substitution exon 1 DMD:c.6435_6436delins606 DMD:c.6435_6436delins606 LOVD complex exon 1 DMD:c.6436A>T DMD:c.6436A>T LOVD substitution exon 1 DMD:c.6436_6438+9del DMD:c.6436_6438+9del LOVD deletion not within known transcription unit 1 DMD:c.6438+106397_6912+1296del DMD:c.6438+106397_6912+1296del LOVD deletion intron 1 DMD:c.6438+110849_6912+22729del DMD:c.6438+110849_6912+22729del LOVD deletion intron 1 DMD:c.6438+114317_6913-16580del DMD:c.6438+114317_6913-16580del LOVD deletion intron 1 DMD:c.6438+120826_7099-2485del DMD:c.6438+120826_7099-2485del LOVD deletion intron 1 DMD:c.6438+120_6438+122del DMD:c.6438+120_6438+122del LOVD deletion intron 1 DMD:c.6438+123454G>A DMD:c.6438+123454G>A LOVD substitution intron 1 DMD:c.6438+123901G>A DMD:c.6438+123901G>A LOVD substitution intron 1 DMD:c.6438+1241G>A DMD:c.6438+1241G>A LOVD substitution intron 1 DMD:c.6438+1485C>T DMD:c.6438+1485C>T LOVD substitution intron 1 DMD:c.6438+1813A>G DMD:c.6438+1813A>G LOVD substitution intron 1 DMD:c.6438+1851A>T DMD:c.6438+1851A>T LOVD substitution intron 1 DMD:c.6438+1854G>T DMD:c.6438+1854G>T LOVD substitution intron 1 DMD:c.6438+1G>A DMD:c.6438+1G>A LOVD substitution intron 1 DMD:c.6438+1G>T DMD:c.6438+1G>T LOVD substitution intron 1 DMD:c.6438+1_6438+5del DMD:c.6438+1_6438+5del LOVD deletion intron 1 DMD:c.6438+2149A>G DMD:c.6438+2149A>G LOVD substitution intron 1 DMD:c.6438+2150A>C DMD:c.6438+2150A>C LOVD substitution intron 1 DMD:c.6438+2560T>C DMD:c.6438+2560T>C LOVD substitution intron 1 DMD:c.6438+2590A>G DMD:c.6438+2590A>G LOVD substitution intron 1 DMD:c.6438+2663T>A DMD:c.6438+2663T>A LOVD substitution intron 1 DMD:c.6438+273G>A DMD:c.6438+273G>A LOVD substitution intron 1 DMD:c.6438+2T>A DMD:c.6438+2T>A LOVD substitution intron 1 DMD:c.6438+3143_6438+3150dup DMD:c.6438+3143_6438+3150dup LOVD duplication intron 1 DMD:c.6438+34120A>G DMD:c.6438+34120A>G LOVD substitution intron 1 DMD:c.6438+3727A>G DMD:c.6438+3727A>G LOVD substitution intron 1 DMD:c.6438+3977T>C DMD:c.6438+3977T>C LOVD substitution intron 1 DMD:c.6438+4106C>T DMD:c.6438+4106C>T LOVD substitution intron 1 DMD:c.6438+4135T>C DMD:c.6438+4135T>C LOVD substitution intron 1 DMD:c.6438+42430_6912+1938del DMD:c.6438+42430_6912+1938del LOVD deletion intron 1 DMD:c.6438+4271C>T DMD:c.6438+4271C>T LOVD substitution intron 1 DMD:c.6438+4593C>T DMD:c.6438+4593C>T LOVD substitution intron 1 DMD:c.6438+4994G>A DMD:c.6438+4994G>A LOVD substitution intron 1 DMD:c.6438+4994G>C DMD:c.6438+4994G>C LOVD substitution intron 1 DMD:c.6438+53392C>T DMD:c.6438+53392C>T LOVD substitution intron 1 DMD:c.6438+556G>A DMD:c.6438+556G>A LOVD substitution intron 1 DMD:c.6438+60927_6438+60942del DMD:c.6438+60927_6438+60942del LOVD deletion intron 1 DMD:c.6438+60933_6438+60942del DMD:c.6438+60933_6438+60942del LOVD deletion intron 1 DMD:c.6438+60935_6438+60942del DMD:c.6438+60935_6438+60942del LOVD deletion intron 1 DMD:c.6438+60941_6438+60942del DMD:c.6438+60941_6438+60942del LOVD deletion intron 1 DMD:c.6438+61137A>G DMD:c.6438+61137A>G LOVD substitution intron 1 DMD:c.6438+61231T>C DMD:c.6438+61231T>C LOVD substitution intron 1 DMD:c.6438+61366A>G DMD:c.6438+61366A>G LOVD substitution intron 1 DMD:c.6438+61575C>T DMD:c.6438+61575C>T LOVD substitution intron 1 DMD:c.6438+69620G>C DMD:c.6438+69620G>C LOVD substitution intron 1 DMD:c.6438+79733_6913-15338del DMD:c.6438+79733_6913-15338del LOVD deletion intron 1 DMD:c.6438+800T>G DMD:c.6438+800T>G LOVD substitution intron 1 DMD:c.6439-106504_6913-10498del DMD:c.6439-106504_6913-10498del LOVD deletion intron 1 DMD:c.6439-111200T>C DMD:c.6439-111200T>C LOVD substitution intron 1 DMD:c.6439-111522C>G DMD:c.6439-111522C>G LOVD substitution intron 1 DMD:c.6439-114429C>T DMD:c.6439-114429C>T LOVD substitution intron 1 DMD:c.6439-1155_7099-4947del DMD:c.6439-1155_7099-4947del LOVD deletion intron 1 DMD:c.6439-122177T>C DMD:c.6439-122177T>C LOVD substitution intron 1 DMD:c.6439-123832T>A DMD:c.6439-123832T>A LOVD substitution intron 1 DMD:c.6439-12611_7098+17524del DMD:c.6439-12611_7098+17524del LOVD deletion intron 1 DMD:c.6439-143G>A DMD:c.6439-143G>A LOVD substitution intron 1 DMD:c.6439-1G>A DMD:c.6439-1G>A LOVD substitution intron 1 DMD:c.6439-20966_6912+10755del DMD:c.6439-20966_6912+10755del LOVD deletion intron 1 DMD:c.6439-26031_7099-5216delinsTCAGTTC DMD:c.6439-26031_7099-5216delinsTCAGTTC LOVD complex intron 1 DMD:c.6439-26753_7310-63delinsCAAAT DMD:c.6439-26753_7310-63delinsCAAAT LOVD complex intron 1 DMD:c.6439-27542_7099-941delinsCA DMD:c.6439-27542_7099-941delinsCA LOVD complex intron 1 DMD:c.6439-2A>G DMD:c.6439-2A>G LOVD substitution intron 1 DMD:c.6439-38163_6912+4117delinsCCTATTTCCAAA DMD:c.6439-38163_6912+4117delinsCCTATTTCCAAA LOVD complex intron 1 DMD:c.6439-38G>A DMD:c.6439-38G>A LOVD substitution intron 1 DMD:c.6439-4225C>G DMD:c.6439-4225C>G LOVD substitution intron 1 DMD:c.6439-46829G>T DMD:c.6439-46829G>T LOVD substitution intron 1 DMD:c.6439-47294_6913-2289del DMD:c.6439-47294_6913-2289del LOVD deletion intron 1 DMD:c.6439-51754_6913-1366del DMD:c.6439-51754_6913-1366del LOVD deletion intron 1 DMD:c.6439-55480dupA DMD:c.6439-55480dupA LOVD duplication intron 1 DMD:c.6439-59229_7099-14411delinsGTTGA DMD:c.6439-59229_7099-14411delinsGTTGA LOVD complex intron 1 DMD:c.6439-59273G>T DMD:c.6439-59273G>T LOVD substitution intron 1 DMD:c.6439-65161_7099-14638del DMD:c.6439-65161_7099-14638del LOVD deletion intron 1 DMD:c.6439-65488_6913-9120delinsT DMD:c.6439-65488_6913-9120delinsT LOVD complex intron 1 DMD:c.6439-68904T>C DMD:c.6439-68904T>C LOVD substitution intron 1 DMD:c.6439-73691_7099-17854delinsGCAC DMD:c.6439-73691_7099-17854delinsGCAC LOVD complex intron 1 DMD:c.6439-9192A>T DMD:c.6439-9192A>T LOVD substitution intron 1 DMD:c.6445C>T DMD:c.6445C>T LOVD substitution exon 1 DMD:c.644dupC DMD:c.644dupC LOVD duplication exon 1 DMD:c.6460C>T DMD:c.6460C>T LOVD substitution exon 1 DMD:c.6463C>T DMD:c.6463C>T LOVD substitution exon 1 DMD:c.6476dupT DMD:c.6476dupT LOVD duplication exon 1 DMD:c.649+145T>C DMD:c.649+145T>C LOVD substitution intron 1 DMD:c.649+15289_3277-39del DMD:c.649+15289_3277-39del LOVD deletion intron 1 DMD:c.649+19721G>C DMD:c.649+19721G>C LOVD substitution intron 1 DMD:c.649+1G>T DMD:c.649+1G>T LOVD substitution intron 1 DMD:c.649+206T>C DMD:c.649+206T>C LOVD substitution intron 1 DMD:c.649+21364_2623-1945del DMD:c.649+21364_2623-1945del LOVD deletion intron 1 DMD:c.649+26342_1993-3367del DMD:c.649+26342_1993-3367del LOVD deletion intron 1 DMD:c.649+26362_961-16088dup DMD:c.649+26362_961-16088dup LOVD duplication intron 1 DMD:c.649+2T>C DMD:c.649+2T>C LOVD substitution intron 1 DMD:c.649+42149T>C DMD:c.649+42149T>C LOVD substitution intron 1 DMD:c.649+5G>A DMD:c.649+5G>A LOVD substitution intron 1 DMD:c.649+76A>G DMD:c.649+76A>G LOVD substitution intron 1 DMD:c.6499G>T DMD:c.6499G>T LOVD substitution exon 1 DMD:c.650-15_656del DMD:c.650-15_656del LOVD deletion intron 1 DMD:c.650-2751_1812+394del DMD:c.650-2751_1812+394del LOVD deletion intron 1 DMD:c.650-35387_1332-8041delinsGGCA DMD:c.650-35387_1332-8041delinsGGCA LOVD complex intron 1 DMD:c.650-374T>G DMD:c.650-374T>G LOVD substitution intron 1 DMD:c.650-40342C>T DMD:c.650-40342C>T LOVD substitution intron 1 DMD:c.650-40433A>C DMD:c.650-40433A>C LOVD substitution intron 1 DMD:c.650-41140G>C DMD:c.650-41140G>C LOVD substitution intron 1 DMD:c.650-41673A>G DMD:c.650-41673A>G LOVD substitution intron 1 DMD:c.650-54011T>C DMD:c.650-54011T>C LOVD substitution intron 1 DMD:c.650-54191A>G DMD:c.650-54191A>G LOVD substitution intron 1 DMD:c.650-54dupA DMD:c.650-54dupA LOVD duplication intron 1 DMD:c.650-73_650-69del DMD:c.650-73_650-69del LOVD deletion intron 1 DMD:c.650-8720_961-10680delinsAA DMD:c.650-8720_961-10680delinsAA LOVD complex intron 1 DMD:c.6526dupA DMD:c.6526dupA LOVD duplication exon 1 DMD:c.6537dupT DMD:c.6537dupT LOVD duplication exon 1 DMD:c.6544C>T DMD:c.6544C>T LOVD substitution exon 1 DMD:c.6554dupT DMD:c.6554dupT LOVD duplication exon 1 DMD:c.6559delA DMD:c.6559delA LOVD deletion exon 1 DMD:c.6571C>T DMD:c.6571C>T LOVD substitution exon 1 DMD:c.6576G>A DMD:c.6576G>A LOVD substitution exon 1 DMD:c.6577C>T DMD:c.6577C>T LOVD substitution exon 1 DMD:c.6581_6614+1del DMD:c.6581_6614+1del LOVD deletion not within known transcription unit 1 DMD:c.6592C>T DMD:c.6592C>T LOVD substitution exon 1 DMD:c.6603_6606del DMD:c.6603_6606del LOVD deletion exon 1 DMD:c.6611dupA DMD:c.6611dupA LOVD duplication exon 1 DMD:c.6613dupA DMD:c.6613dupA LOVD duplication exon 1 DMD:c.6614+119A>G DMD:c.6614+119A>G LOVD substitution intron 1 DMD:c.6614+13A>T DMD:c.6614+13A>T LOVD substitution intron 1 DMD:c.6614+14125_6763-810del DMD:c.6614+14125_6763-810del LOVD deletion intron 1 DMD:c.6614+166delT DMD:c.6614+166delT LOVD deletion intron 1 DMD:c.6614+186T>C DMD:c.6614+186T>C LOVD substitution intron 1 DMD:c.6614+1G>A DMD:c.6614+1G>A LOVD substitution intron 1 DMD:c.6614+1G>C DMD:c.6614+1G>C LOVD substitution intron 1 DMD:c.6614+237_6614+240del DMD:c.6614+237_6614+240del LOVD deletion intron 1 DMD:c.6614+25T>G DMD:c.6614+25T>G LOVD substitution intron 1 DMD:c.6614+26G>T DMD:c.6614+26G>T LOVD substitution intron 1 DMD:c.6614+2T>C DMD:c.6614+2T>C LOVD substitution intron 1 DMD:c.6614+3310G>T DMD:c.6614+3310G>T LOVD substitution intron 1 DMD:c.6615-1354C>T DMD:c.6615-1354C>T LOVD substitution intron 1 DMD:c.6615-15248A>G DMD:c.6615-15248A>G LOVD substitution intron 1 DMD:c.6615-1G>C DMD:c.6615-1G>C LOVD substitution intron 1 DMD:c.6615-2A>T DMD:c.6615-2A>T LOVD substitution intron 1 DMD:c.6615-58A>C DMD:c.6615-58A>C LOVD substitution intron 1 DMD:c.6615-8_6617del DMD:c.6615-8_6617del LOVD deletion intron 1 DMD:c.6629delA DMD:c.6629delA LOVD deletion exon 1 DMD:c.6641C>A DMD:c.6641C>A LOVD substitution exon 1 DMD:c.6648delT DMD:c.6648delT LOVD deletion exon 1 DMD:c.6649C>T DMD:c.6649C>T LOVD substitution exon 1 DMD:c.6674T>A DMD:c.6674T>A LOVD substitution exon 1 DMD:c.6674T>G DMD:c.6674T>G LOVD substitution exon 1 DMD:c.669delA DMD:c.669delA LOVD deletion exon 1 DMD:c.6720delT DMD:c.6720delT LOVD deletion exon 1 DMD:c.6721G>T DMD:c.6721G>T LOVD substitution exon 1 DMD:c.6730C>T DMD:c.6730C>T LOVD substitution exon 1 DMD:c.6733C>T DMD:c.6733C>T LOVD substitution exon 1 DMD:c.673A>T DMD:c.673A>T LOVD substitution exon 1 DMD:c.6742G>T DMD:c.6742G>T LOVD substitution exon 1 DMD:c.6746delA DMD:c.6746delA LOVD deletion exon 1 DMD:c.6762+141C>T DMD:c.6762+141C>T LOVD substitution intron 1 DMD:c.6762+184T>C DMD:c.6762+184T>C LOVD substitution intron 1 DMD:c.6762+1G>A DMD:c.6762+1G>A LOVD substitution intron 1 DMD:c.6762+1G>T DMD:c.6762+1G>T LOVD substitution intron 1 DMD:c.6762+278delT DMD:c.6762+278delT LOVD deletion intron 1 DMD:c.6762+425_7099-11606del DMD:c.6762+425_7099-11606del LOVD deletion intron 1 DMD:c.6763-91delA DMD:c.6763-91delA LOVD deletion intron 1 DMD:c.6763-97C>T DMD:c.6763-97C>T LOVD substitution intron 1 DMD:c.6766_6767delinsTA DMD:c.6766_6767delinsTA LOVD complex exon 1 DMD:c.676_678del DMD:c.676_678del LOVD deletion exon 1 DMD:c.6776_6792del DMD:c.6776_6792del LOVD deletion exon 1 DMD:c.6790C>T DMD:c.6790C>T LOVD substitution exon 1 DMD:c.6794delG DMD:c.6794delG LOVD deletion exon 1 DMD:c.6799C>T DMD:c.6799C>T LOVD substitution exon 1 DMD:c.6804_6807del DMD:c.6804_6807del LOVD deletion exon 1 DMD:c.6805C>T DMD:c.6805C>T LOVD substitution exon 1 DMD:c.6805delC DMD:c.6805delC LOVD deletion exon 1 DMD:c.6808_6811del DMD:c.6808_6811del LOVD deletion exon 1 DMD:c.6809T>G DMD:c.6809T>G LOVD substitution exon 1 DMD:c.6824dupG DMD:c.6824dupG LOVD duplication exon 1 DMD:c.6828C>T DMD:c.6828C>T LOVD substitution exon 1 DMD:c.6843_6846dup DMD:c.6843_6846dup LOVD duplication exon 1 DMD:c.6848dupT DMD:c.6848dupT LOVD duplication exon 1 DMD:c.6856G>T DMD:c.6856G>T LOVD substitution exon 1 DMD:c.6862C>T DMD:c.6862C>T LOVD substitution exon 1 DMD:c.6868A>T DMD:c.6868A>T LOVD substitution exon 1 DMD:c.686T>A DMD:c.686T>A LOVD substitution exon 1 DMD:c.6880A>T DMD:c.6880A>T LOVD substitution exon 1 DMD:c.6896A>C DMD:c.6896A>C LOVD substitution exon 1 DMD:c.689delT DMD:c.689delT LOVD deletion exon 1 DMD:c.6905G>A DMD:c.6905G>A LOVD substitution exon 1 DMD:c.6906G>A DMD:c.6906G>A LOVD substitution exon 1 DMD:c.6912+124_6912+128dup DMD:c.6912+124_6912+128dup LOVD duplication intron 1 DMD:c.6912+141G>A DMD:c.6912+141G>A LOVD substitution intron 1 DMD:c.6912+18156_7200+4736delinsTTCT DMD:c.6912+18156_7200+4736delinsTTCT LOVD complex intron 1 DMD:c.6912+19160_7201-1542del DMD:c.6912+19160_7201-1542del LOVD deletion intron 1 DMD:c.6912+24341C>G DMD:c.6912+24341C>G LOVD substitution intron 1 DMD:c.6912+25452_7098+10913delinsA DMD:c.6912+25452_7098+10913delinsA LOVD complex intron 1 DMD:c.6912+25607_7201-2830del DMD:c.6912+25607_7201-2830del LOVD deletion intron 1 DMD:c.6912+4228_7201-3042del DMD:c.6912+4228_7201-3042del LOVD deletion intron 1 DMD:c.6912+5682_7201-5740delinsCAGT DMD:c.6912+5682_7201-5740delinsCAGT LOVD complex intron 1 DMD:c.6912+7362_7201-975delins18 DMD:c.6912+7362_7201-975delins18 LOVD complex intron 1 DMD:c.6913-1072_7099-16450del DMD:c.6913-1072_7099-16450del LOVD deletion intron 1 DMD:c.6913-114A>T DMD:c.6913-114A>T LOVD substitution intron 1 DMD:c.6913-12708_7200+4640del DMD:c.6913-12708_7200+4640del LOVD deletion intron 1 DMD:c.6913-14601_7201-5987del DMD:c.6913-14601_7201-5987del LOVD deletion intron 1 DMD:c.6913-14T>C DMD:c.6913-14T>C LOVD substitution intron 1 DMD:c.6913-15315_7099-8770del DMD:c.6913-15315_7099-8770del LOVD deletion intron 1 DMD:c.6913-16065_7098+15476del DMD:c.6913-16065_7098+15476del LOVD deletion intron 1 DMD:c.6913-16304_7543-9903delinsT DMD:c.6913-16304_7543-9903delinsT LOVD complex intron 1 DMD:c.6913-1654_7098+154delins27 DMD:c.6913-1654_7098+154delins27 LOVD complex intron 1 DMD:c.6913-19038A>C DMD:c.6913-19038A>C LOVD substitution intron 1 DMD:c.6913-1G>A DMD:c.6913-1G>A LOVD substitution intron 1 DMD:c.6913-20333_7201-4433del DMD:c.6913-20333_7201-4433del LOVD deletion intron 1 DMD:c.6913-2918G>A DMD:c.6913-2918G>A LOVD substitution intron 1 DMD:c.6913-2A>G DMD:c.6913-2A>G LOVD substitution intron 1 DMD:c.6913-30T>C DMD:c.6913-30T>C LOVD substitution intron 1 DMD:c.6913-3947_7098+3412del DMD:c.6913-3947_7098+3412del LOVD deletion intron 1 DMD:c.6913-4037T>G DMD:c.6913-4037T>G LOVD substitution intron 1 DMD:c.6913-50dupG DMD:c.6913-50dupG LOVD duplication intron 1 DMD:c.6913-6024_7099-16008del DMD:c.6913-6024_7099-16008del LOVD deletion intron 1 DMD:c.6913-7550_7201-5291del DMD:c.6913-7550_7201-5291del LOVD deletion intron 1 DMD:c.6913-8478_7099-7731delins13 DMD:c.6913-8478_7099-7731delins13 LOVD complex intron 1 DMD:c.6913-8528_7099-1945delinsAGTGAGG DMD:c.6913-8528_7099-1945delinsAGTGAGG LOVD complex intron 1 DMD:c.691T>A DMD:c.691T>A LOVD substitution exon 1 DMD:c.691T>G DMD:c.691T>G LOVD substitution exon 1 DMD:c.6931dupG DMD:c.6931dupG LOVD duplication exon 1 DMD:c.6943G>T DMD:c.6943G>T LOVD substitution exon 1 DMD:c.694A>T DMD:c.694A>T LOVD substitution exon 1 DMD:c.6955C>T DMD:c.6955C>T LOVD substitution exon 1 DMD:c.6958A>T DMD:c.6958A>T LOVD substitution exon 1 DMD:c.6963delA DMD:c.6963delA LOVD deletion exon 1 DMD:c.6964delG DMD:c.6964delG LOVD deletion exon 1 DMD:c.696C>G DMD:c.696C>G LOVD substitution exon 1 DMD:c.697_698insGT DMD:c.697_698insGT LOVD insertion exon 1 DMD:c.6986delA DMD:c.6986delA LOVD deletion exon 1 DMD:c.6986dupA DMD:c.6986dupA LOVD duplication exon 1 DMD:c.7006C>T DMD:c.7006C>T LOVD substitution exon 1 DMD:c.7010T>G DMD:c.7010T>G LOVD substitution exon 1 DMD:c.7016A>C DMD:c.7016A>C LOVD substitution exon 1 DMD:c.701C>A DMD:c.701C>A LOVD substitution exon 1 DMD:c.7054G>T DMD:c.7054G>T LOVD substitution exon 1 DMD:c.7075C>T DMD:c.7075C>T LOVD substitution exon 1 DMD:c.7077_7078delinsT DMD:c.7077_7078delinsT LOVD complex exon 1 DMD:c.7080A>G DMD:c.7080A>G LOVD substitution exon 1 DMD:c.7085C>A DMD:c.7085C>A LOVD substitution exon 1 DMD:c.7089dupT DMD:c.7089dupT LOVD duplication exon 1 DMD:c.7096C>A DMD:c.7096C>A LOVD substitution exon 1 DMD:c.7098+141delC DMD:c.7098+141delC LOVD deletion intron 1 DMD:c.7098+156G>C DMD:c.7098+156G>C LOVD substitution intron 1 DMD:c.7098+1G>A DMD:c.7098+1G>A LOVD substitution intron 1 DMD:c.7098+1G>T DMD:c.7098+1G>T LOVD substitution intron 1 DMD:c.7098+4221A>G DMD:c.7098+4221A>G LOVD substitution intron 1 DMD:c.7098+6307_7542+16881del DMD:c.7098+6307_7542+16881del LOVD deletion intron 1 DMD:c.7099-20A>G DMD:c.7099-20A>G LOVD substitution intron 1 DMD:c.7099-373T>G DMD:c.7099-373T>G LOVD substitution intron 1 DMD:c.709C>T DMD:c.709C>T LOVD substitution exon 1 DMD:c.7105G>T DMD:c.7105G>T LOVD substitution exon 1 DMD:c.711A>G DMD:c.711A>G LOVD substitution exon 1 DMD:c.7128delA DMD:c.7128delA LOVD deletion exon 1 DMD:c.712G>T DMD:c.712G>T LOVD substitution exon 1 DMD:c.713_716del DMD:c.713_716del LOVD deletion exon 1 DMD:c.7159C>T DMD:c.7159C>T LOVD substitution exon 1 DMD:c.7181delC DMD:c.7181delC LOVD deletion exon 1 DMD:c.7183G>A DMD:c.7183G>A LOVD substitution exon 1 DMD:c.7200+1067G>A DMD:c.7200+1067G>A LOVD substitution intron 1 DMD:c.7200+1147T>A DMD:c.7200+1147T>A LOVD substitution intron 1 DMD:c.7200+1834T>C DMD:c.7200+1834T>C LOVD substitution intron 1 DMD:c.7200+1932C>T DMD:c.7200+1932C>T LOVD substitution intron 1 DMD:c.7200+2037_7660+17389del DMD:c.7200+2037_7660+17389del LOVD deletion intron 1 DMD:c.7200+2273A>C DMD:c.7200+2273A>C LOVD substitution intron 1 DMD:c.7200+2327_7542+?del DMD:c.7200+2327_7542+?del LOVD deletion intron 0 DMD:c.7200+26C>T DMD:c.7200+26C>T LOVD substitution intron 1 DMD:c.7200+2912G>A DMD:c.7200+2912G>A LOVD substitution intron 1 DMD:c.7200+3225G>A DMD:c.7200+3225G>A LOVD substitution intron 1 DMD:c.7200+411G>A DMD:c.7200+411G>A LOVD substitution intron 1 DMD:c.7200+4568A>G DMD:c.7200+4568A>G LOVD substitution intron 1 DMD:c.7200+4818_7660+?dup DMD:c.7200+4818_7660+?dup LOVD duplication intron 0 DMD:c.7200+51T>A DMD:c.7200+51T>A LOVD substitution intron 1 DMD:c.7200+53C>G DMD:c.7200+53C>G LOVD substitution intron 1 DMD:c.7200+5505T>C DMD:c.7200+5505T>C LOVD substitution intron 1 DMD:c.7200+6111T>G DMD:c.7200+6111T>G LOVD substitution intron 1 DMD:c.7201-1403C>T DMD:c.7201-1403C>T LOVD substitution intron 1 DMD:c.7201-159A>C DMD:c.7201-159A>C LOVD substitution intron 1 DMD:c.7201-1G>A DMD:c.7201-1G>A LOVD substitution intron 1 DMD:c.7201-2698A>G DMD:c.7201-2698A>G LOVD substitution intron 1 DMD:c.7201-2987T>C DMD:c.7201-2987T>C LOVD substitution intron 1 DMD:c.7201-2A>G DMD:c.7201-2A>G LOVD substitution intron 1 DMD:c.7201-5030T>G DMD:c.7201-5030T>G LOVD substitution intron 1 DMD:c.7201-5913G>A DMD:c.7201-5913G>A LOVD substitution intron 1 DMD:c.7201-6832A>G DMD:c.7201-6832A>G LOVD substitution intron 1 DMD:c.7201-693T>C DMD:c.7201-693T>C LOVD substitution intron 1 DMD:c.7201-893C>T DMD:c.7201-893C>T LOVD substitution intron 1 DMD:c.7204A>T DMD:c.7204A>T LOVD substitution exon 1 DMD:c.720T>G DMD:c.720T>G LOVD substitution exon 1 DMD:c.721C>T DMD:c.721C>T LOVD substitution exon 1 DMD:c.7221_7227del DMD:c.7221_7227del LOVD deletion exon 1 DMD:c.7234delG DMD:c.7234delG LOVD deletion exon 1 DMD:c.7247delT DMD:c.7247delT LOVD deletion exon 1 DMD:c.724C>T DMD:c.724C>T LOVD substitution exon 1 DMD:c.7255G>T DMD:c.7255G>T LOVD substitution exon 1 DMD:c.7309+10754A>G DMD:c.7309+10754A>G LOVD substitution intron 1 DMD:c.7309+1118G>A DMD:c.7309+1118G>A LOVD substitution intron 1 DMD:c.7309+1166A>T DMD:c.7309+1166A>T LOVD substitution intron 1 DMD:c.7309+13429A>G DMD:c.7309+13429A>G LOVD substitution intron 1 DMD:c.7309+134_7309+135del DMD:c.7309+134_7309+135del LOVD deletion intron 1 DMD:c.7309+17578G>A DMD:c.7309+17578G>A LOVD substitution intron 1 DMD:c.7309+176T>C DMD:c.7309+176T>C LOVD substitution intron 1 DMD:c.7309+17806G>A DMD:c.7309+17806G>A LOVD substitution intron 1 DMD:c.7309+18156G>C DMD:c.7309+18156G>C LOVD substitution intron 1 DMD:c.7309+18383delT DMD:c.7309+18383delT LOVD deletion intron 1 DMD:c.7309+19213dupA DMD:c.7309+19213dupA LOVD duplication intron 1 DMD:c.7309+19412A>G DMD:c.7309+19412A>G LOVD substitution intron 1 DMD:c.7309+19467_7543-4971del DMD:c.7309+19467_7543-4971del LOVD deletion intron 1 DMD:c.7309+19556C>A DMD:c.7309+19556C>A LOVD substitution intron 1 DMD:c.7309+1G>A DMD:c.7309+1G>A LOVD substitution intron 1 DMD:c.7309+22380G>T DMD:c.7309+22380G>T LOVD substitution intron 1 DMD:c.7309+2T>A DMD:c.7309+2T>A LOVD substitution intron 1 DMD:c.7309+2_7309+3insGCT DMD:c.7309+2_7309+3insGCT LOVD insertion intron 1 DMD:c.7309+3122T>G DMD:c.7309+3122T>G LOVD substitution intron 1 DMD:c.7309+3200C>T DMD:c.7309+3200C>T LOVD substitution intron 1 DMD:c.7309+413dupG DMD:c.7309+413dupG LOVD duplication intron 1 DMD:c.7309+4A>G DMD:c.7309+4A>G LOVD substitution intron 1 DMD:c.7309+5057A>G DMD:c.7309+5057A>G LOVD substitution intron 1 DMD:c.7309+5771C>T DMD:c.7309+5771C>T LOVD substitution intron 1 DMD:c.7309+6060G>A DMD:c.7309+6060G>A LOVD substitution intron 1 DMD:c.7309+7365T>A DMD:c.7309+7365T>A LOVD substitution intron 1 DMD:c.7309+8222C>T DMD:c.7309+8222C>T LOVD substitution intron 1 DMD:c.7309+8276C>T DMD:c.7309+8276C>T LOVD substitution intron 1 DMD:c.7309+9927delinsAGTAC DMD:c.7309+9927delinsAGTAC LOVD complex intron 1 DMD:c.7310-11791C>T DMD:c.7310-11791C>T LOVD substitution intron 1 DMD:c.7310-13718G>A DMD:c.7310-13718G>A LOVD substitution intron 1 DMD:c.7310-14721C>T DMD:c.7310-14721C>T LOVD substitution intron 1 DMD:c.7310-15107C>T DMD:c.7310-15107C>T LOVD substitution intron 1 DMD:c.7310-16064C>T DMD:c.7310-16064C>T LOVD substitution intron 1 DMD:c.7310-16646C>T DMD:c.7310-16646C>T LOVD substitution intron 1 DMD:c.7310-17146G>A DMD:c.7310-17146G>A LOVD substitution intron 1 DMD:c.7310-18668T>C DMD:c.7310-18668T>C LOVD substitution intron 1 DMD:c.7310-19346A>T DMD:c.7310-19346A>T LOVD substitution intron 1 DMD:c.7310-1G>A DMD:c.7310-1G>A LOVD substitution intron 1 DMD:c.7310-2022G>T DMD:c.7310-2022G>T LOVD substitution intron 1 DMD:c.7310-21180C>A DMD:c.7310-21180C>A LOVD substitution intron 1 DMD:c.7310-2462T>A DMD:c.7310-2462T>A LOVD substitution intron 1 DMD:c.7310-2509A>C DMD:c.7310-2509A>C LOVD substitution intron 1 DMD:c.7310-250C>T DMD:c.7310-250C>T LOVD substitution intron 1 DMD:c.7310-3203T>C DMD:c.7310-3203T>C LOVD substitution intron 1 DMD:c.7310-36C>T DMD:c.7310-36C>T LOVD substitution intron 1 DMD:c.7310-38T>A DMD:c.7310-38T>A LOVD substitution intron 1 DMD:c.7310-5128G>A DMD:c.7310-5128G>A LOVD substitution intron 1 DMD:c.7310-527C>T DMD:c.7310-527C>T LOVD substitution intron 1 DMD:c.7310-6005C>T DMD:c.7310-6005C>T LOVD substitution intron 1 DMD:c.7310-6657T>C DMD:c.7310-6657T>C LOVD substitution intron 1 DMD:c.7310-7307G>C DMD:c.7310-7307G>C LOVD substitution intron 1 DMD:c.7310-780A>G DMD:c.7310-780A>G LOVD substitution intron 1 DMD:c.7310-7942G>A DMD:c.7310-7942G>A LOVD substitution intron 1 DMD:c.7310-7A>G DMD:c.7310-7A>G LOVD substitution intron 1 DMD:c.7310-8051T>C DMD:c.7310-8051T>C LOVD substitution intron 1 DMD:c.7310-863T>A DMD:c.7310-863T>A LOVD substitution intron 1 DMD:c.7310-9219A>G DMD:c.7310-9219A>G LOVD substitution intron 1 DMD:c.7310-932T>A DMD:c.7310-932T>A LOVD substitution intron 1 DMD:c.7339C>T DMD:c.7339C>T LOVD substitution exon 1 DMD:c.7348delG DMD:c.7348delG LOVD deletion exon 1 DMD:c.735T>A DMD:c.735T>A LOVD substitution exon 1 DMD:c.7392delC DMD:c.7392delC LOVD deletion exon 1 DMD:c.7395delG DMD:c.7395delG LOVD deletion exon 1 DMD:c.7400delT DMD:c.7400delT LOVD deletion exon 1 DMD:c.7401_7402delinsAT DMD:c.7401_7402delinsAT LOVD complex exon 1 DMD:c.7406dupT DMD:c.7406dupT LOVD duplication exon 1 DMD:c.7436G>A DMD:c.7436G>A LOVD substitution exon 1 DMD:c.7449delC DMD:c.7449delC LOVD deletion exon 1 DMD:c.7453dupT DMD:c.7453dupT LOVD duplication exon 1 DMD:c.7456delC DMD:c.7456delC LOVD deletion exon 1 DMD:c.745C>T DMD:c.745C>T LOVD substitution exon 1 DMD:c.7471C>T DMD:c.7471C>T LOVD substitution exon 1 DMD:c.7482dupA DMD:c.7482dupA LOVD duplication exon 1 DMD:c.748G>T DMD:c.748G>T LOVD substitution exon 1 DMD:c.7538dupA DMD:c.7538dupA LOVD duplication exon 1 DMD:c.7542+13A>G DMD:c.7542+13A>G LOVD substitution intron 1 DMD:c.7542+19388G>C DMD:c.7542+19388G>C LOVD substitution intron 1 DMD:c.7542+1G>A DMD:c.7542+1G>A LOVD substitution intron 1 DMD:c.7542+2T>C DMD:c.7542+2T>C LOVD substitution intron 1 DMD:c.7542+4458T>G DMD:c.7542+4458T>G LOVD substitution intron 1 DMD:c.7542+4622A>G DMD:c.7542+4622A>G LOVD substitution intron 1 DMD:c.7543-156C>G DMD:c.7543-156C>G LOVD substitution intron 1 DMD:c.7543-1598C>T DMD:c.7543-1598C>T LOVD substitution intron 1 DMD:c.7543-159T>G DMD:c.7543-159T>G LOVD substitution intron 1 DMD:c.7543-1_7548dup DMD:c.7543-1_7548dup LOVD duplication intron 1 DMD:c.754G>T DMD:c.754G>T LOVD substitution exon 1 DMD:c.7564C>T DMD:c.7564C>T LOVD substitution exon 1 DMD:c.7576C>T DMD:c.7576C>T LOVD substitution exon 1 DMD:c.7582G>T DMD:c.7582G>T LOVD substitution exon 1 DMD:c.7587_7591del DMD:c.7587_7591del LOVD deletion exon 1 DMD:c.7620G>A DMD:c.7620G>A LOVD substitution exon 1 DMD:c.7654delG DMD:c.7654delG LOVD deletion exon 1 DMD:c.7657C>T DMD:c.7657C>T LOVD substitution exon 1 DMD:c.7660+125delA DMD:c.7660+125delA LOVD deletion intron 1 DMD:c.7660+1G>T DMD:c.7660+1G>T LOVD substitution intron 1 DMD:c.7660+4delA DMD:c.7660+4delA LOVD deletion intron 1 DMD:c.7661-1G>A DMD:c.7661-1G>A LOVD substitution intron 1 DMD:c.7661-21197G>C DMD:c.7661-21197G>C LOVD substitution intron 1 DMD:c.7661-2A>C DMD:c.7661-2A>C LOVD substitution intron 1 DMD:c.7661-2A>T DMD:c.7661-2A>T LOVD substitution intron 1 DMD:c.7661-61T>A DMD:c.7661-61T>A LOVD substitution intron 1 DMD:c.7669delA DMD:c.7669delA LOVD deletion exon 1 DMD:c.7672C>T DMD:c.7672C>T LOVD substitution exon 1 DMD:c.7682G>A DMD:c.7682G>A LOVD substitution exon 1 DMD:c.7689delA DMD:c.7689delA LOVD deletion exon 1 DMD:c.7693C>T DMD:c.7693C>T LOVD substitution exon 1 DMD:c.7696G>T DMD:c.7696G>T LOVD substitution exon 1 DMD:c.771delA DMD:c.771delA LOVD deletion exon 1 DMD:c.7720C>T DMD:c.7720C>T LOVD substitution exon 1 DMD:c.7722G>C DMD:c.7722G>C LOVD substitution exon 1 DMD:c.7728C>T DMD:c.7728C>T LOVD substitution exon 1 DMD:c.7728T>C DMD:c.7728T>C LOVD substitution exon 1 DMD:c.772_773del DMD:c.772_773del LOVD deletion exon 1 DMD:c.7736T>A DMD:c.7736T>A LOVD substitution exon 1 DMD:c.7739delA DMD:c.7739delA LOVD deletion exon 1 DMD:c.7755G>A DMD:c.7755G>A LOVD substitution exon 1 DMD:c.7768_7771del DMD:c.7768_7771del LOVD deletion exon 1 DMD:c.777delA DMD:c.777delA LOVD deletion exon 1 DMD:c.7798A>T DMD:c.7798A>T LOVD substitution exon 1 DMD:c.77A>G DMD:c.77A>G LOVD substitution exon 1 DMD:c.7812_7813insAA DMD:c.7812_7813insAA LOVD insertion exon 1 DMD:c.7814C>G DMD:c.7814C>G LOVD substitution exon 1 DMD:c.7817G>A DMD:c.7817G>A LOVD substitution exon 1 DMD:c.7820A>T DMD:c.7820A>T LOVD substitution exon 1 DMD:c.7822G>T DMD:c.7822G>T LOVD substitution exon 1 DMD:c.7826dupG DMD:c.7826dupG LOVD duplication exon 1 DMD:c.7832delA DMD:c.7832delA LOVD deletion exon 1 DMD:c.7833dupT DMD:c.7833dupT LOVD duplication exon 1 DMD:c.783dupT DMD:c.783dupT LOVD duplication exon 1 DMD:c.783_793del DMD:c.783_793del LOVD deletion exon 1 DMD:c.7854delG DMD:c.7854delG LOVD deletion exon 1 DMD:c.7855A>T DMD:c.7855A>T LOVD substitution exon 1 DMD:c.7858dupA DMD:c.7858dupA LOVD duplication exon 1 DMD:c.7872+324G>A DMD:c.7872+324G>A LOVD substitution intron 1 DMD:c.7872+5163G>A DMD:c.7872+5163G>A LOVD substitution intron 1 DMD:c.7872+600C>T DMD:c.7872+600C>T LOVD substitution intron 1 DMD:c.7873-8A>G DMD:c.7873-8A>G LOVD substitution intron 1 DMD:c.7873delC DMD:c.7873delC LOVD deletion exon 1 DMD:c.7894delC DMD:c.7894delC LOVD deletion exon 1 DMD:c.7899delG DMD:c.7899delG LOVD deletion exon 1 DMD:c.7905_7908dup DMD:c.7905_7908dup LOVD duplication exon 1 DMD:c.7908_7911dup DMD:c.7908_7911dup LOVD duplication exon 1 DMD:c.7961A>G DMD:c.7961A>G LOVD substitution exon 1 DMD:c.7992_7993del DMD:c.7992_7993del LOVD deletion exon 1 DMD:c.7997_8025del DMD:c.7997_8025del LOVD deletion exon 1 DMD:c.7999_8009del DMD:c.7999_8009del LOVD deletion exon 1 DMD:c.799C>T DMD:c.799C>T LOVD substitution exon 1 DMD:c.79G>C DMD:c.79G>C LOVD substitution exon 1 DMD:c.8006C>T DMD:c.8006C>T LOVD substitution exon 1 DMD:c.8009G>A DMD:c.8009G>A LOVD substitution exon 1 DMD:c.8027+11C>T DMD:c.8027+11C>T LOVD substitution intron 1 DMD:c.8027+11_8027+12insT DMD:c.8027+11_8027+12insT LOVD insertion intron 1 DMD:c.8027+13T>G DMD:c.8027+13T>G LOVD substitution intron 1 DMD:c.8027+1G>A DMD:c.8027+1G>A LOVD substitution intron 1 DMD:c.8027+1G>T DMD:c.8027+1G>T LOVD substitution intron 1 DMD:c.8027+2T>A DMD:c.8027+2T>A LOVD substitution intron 1 DMD:c.8027+2T>C DMD:c.8027+2T>C LOVD substitution intron 1 DMD:c.8027+319T>G DMD:c.8027+319T>G LOVD substitution intron 1 DMD:c.8027+7A>T DMD:c.8027+7A>T LOVD substitution intron 1 DMD:c.8027+83delT DMD:c.8027+83delT LOVD deletion intron 1 DMD:c.8028-114C>A DMD:c.8028-114C>A LOVD substitution intron 1 DMD:c.8028-42C>G DMD:c.8028-42C>G LOVD substitution intron 1 DMD:c.8028_8031dup DMD:c.8028_8031dup LOVD duplication exon 1 DMD:c.802T>C DMD:c.802T>C LOVD substitution exon 1 DMD:c.8038C>T DMD:c.8038C>T LOVD substitution exon 1 DMD:c.8044G>T DMD:c.8044G>T LOVD substitution exon 1 DMD:c.8055A>G DMD:c.8055A>G LOVD substitution exon 1 DMD:c.8064_8065del DMD:c.8064_8065del LOVD deletion exon 1 DMD:c.8069T>G DMD:c.8069T>G LOVD substitution exon 1 DMD:c.8074C>T DMD:c.8074C>T LOVD substitution exon 1 DMD:c.8086delC DMD:c.8086delC LOVD deletion exon 1 DMD:c.8086dupC DMD:c.8086dupC LOVD duplication exon 1 DMD:c.8087delT DMD:c.8087delT LOVD deletion exon 1 DMD:c.8098A>T DMD:c.8098A>T LOVD substitution exon 1 DMD:c.8116dupA DMD:c.8116dupA LOVD duplication exon 1 DMD:c.811C>T DMD:c.811C>T LOVD substitution exon 1 DMD:c.8146C>T DMD:c.8146C>T LOVD substitution exon 1 DMD:c.8146_8147dup DMD:c.8146_8147dup LOVD duplication exon 1 DMD:c.8161A>T DMD:c.8161A>T LOVD substitution exon 1 DMD:c.8167delA DMD:c.8167delA LOVD deletion exon 1 DMD:c.8176G>T DMD:c.8176G>T LOVD substitution exon 1 DMD:c.8194A>T DMD:c.8194A>T LOVD substitution exon 1 DMD:c.8209C>T DMD:c.8209C>T LOVD substitution exon 1 DMD:c.8214G>A DMD:c.8214G>A LOVD substitution exon 1 DMD:c.8217+11698C>T DMD:c.8217+11698C>T LOVD substitution intron 1 DMD:c.8217+18052A>G DMD:c.8217+18052A>G LOVD substitution intron 1 DMD:c.8217+1G>C DMD:c.8217+1G>C LOVD substitution intron 1 DMD:c.8217+40554C>T DMD:c.8217+40554C>T LOVD substitution intron 1 DMD:c.8217+48823G>A DMD:c.8217+48823G>A LOVD substitution intron 1 DMD:c.8217+5G>A DMD:c.8217+5G>A LOVD substitution intron 1 DMD:c.8217dupA DMD:c.8217dupA LOVD duplication exon 1 DMD:c.8218-1056delA DMD:c.8218-1056delA LOVD deletion intron 1 DMD:c.8218-1069G>A DMD:c.8218-1069G>A LOVD substitution intron 1 DMD:c.8218-1353A>G DMD:c.8218-1353A>G LOVD substitution intron 1 DMD:c.8218-20495G>A DMD:c.8218-20495G>A LOVD substitution intron 1 DMD:c.8218-2A>G DMD:c.8218-2A>G LOVD substitution intron 1 DMD:c.8218-5985G>T DMD:c.8218-5985G>T LOVD substitution intron 1 DMD:c.8218-630G>A DMD:c.8218-630G>A LOVD substitution intron 1 DMD:c.8218-971T>A DMD:c.8218-971T>A LOVD substitution intron 1 DMD:c.8219A>G DMD:c.8219A>G LOVD substitution exon 1 DMD:c.821A>G DMD:c.821A>G LOVD substitution exon 1 DMD:c.8259delC DMD:c.8259delC LOVD deletion exon 1 DMD:c.8267delA DMD:c.8267delA LOVD deletion exon 1 DMD:c.8269G>T DMD:c.8269G>T LOVD substitution exon 1 DMD:c.826C>T DMD:c.826C>T LOVD substitution exon 1 DMD:c.8284dupA DMD:c.8284dupA LOVD duplication exon 1 DMD:c.8287delC DMD:c.8287delC LOVD deletion exon 1 DMD:c.829C>T DMD:c.829C>T LOVD substitution exon 1 DMD:c.82C>T DMD:c.82C>T LOVD substitution exon 1 DMD:c.831+148delC DMD:c.831+148delC LOVD deletion intron 1 DMD:c.831+148_831+149dup DMD:c.831+148_831+149dup LOVD duplication intron 1 DMD:c.831+156_831+157dup DMD:c.831+156_831+157dup LOVD duplication intron 1 DMD:c.831+1G>C DMD:c.831+1G>C LOVD substitution intron 1 DMD:c.831+95A>T DMD:c.831+95A>T LOVD substitution intron 1 DMD:c.8311delG DMD:c.8311delG LOVD deletion exon 1 DMD:c.831G>A DMD:c.831G>A LOVD substitution exon 1 DMD:c.831G>T DMD:c.831G>T LOVD substitution exon 1 DMD:c.832-137A>G DMD:c.832-137A>G LOVD substitution intron 1 DMD:c.832-15A>G DMD:c.832-15A>G LOVD substitution intron 1 DMD:c.832-16A>C DMD:c.832-16A>C LOVD substitution intron 1 DMD:c.832-17C>A DMD:c.832-17C>A LOVD substitution intron 1 DMD:c.832-18C>G DMD:c.832-18C>G LOVD substitution intron 1 DMD:c.832-18_832-17delinsGA DMD:c.832-18_832-17delinsGA LOVD complex intron 1 DMD:c.832-20C>T DMD:c.832-20C>T LOVD substitution intron 1 DMD:c.832-44T>A DMD:c.832-44T>A LOVD substitution intron 1 DMD:c.832-54A>G DMD:c.832-54A>G LOVD substitution intron 1 DMD:c.8322G>T DMD:c.8322G>T LOVD substitution exon 1 DMD:c.8326C>T DMD:c.8326C>T LOVD substitution exon 1 DMD:c.8333G>A DMD:c.8333G>A LOVD substitution exon 1 DMD:c.8353A>T DMD:c.8353A>T LOVD substitution exon 1 DMD:c.8357G>A DMD:c.8357G>A LOVD substitution exon 1 DMD:c.835A>G DMD:c.835A>G LOVD substitution exon 1 DMD:c.836_837del DMD:c.836_837del LOVD deletion exon 1 DMD:c.8371A>T DMD:c.8371A>T LOVD substitution exon 1 DMD:c.8374_8375del DMD:c.8374_8375del LOVD deletion exon 1 DMD:c.837G>A DMD:c.837G>A LOVD substitution exon 1 DMD:c.8381_8382del DMD:c.8381_8382del LOVD deletion exon 1 DMD:c.8388delT DMD:c.8388delT LOVD deletion exon 1 DMD:c.8390+174T>C DMD:c.8390+174T>C LOVD substitution intron 1 DMD:c.8390+1G>A DMD:c.8390+1G>A LOVD substitution intron 1 DMD:c.8390+1G>C DMD:c.8390+1G>C LOVD substitution intron 1 DMD:c.8390+2T>C DMD:c.8390+2T>C LOVD substitution intron 1 DMD:c.8390+422C>T DMD:c.8390+422C>T LOVD substitution intron 1 DMD:c.8390+443G>A DMD:c.8390+443G>A LOVD substitution intron 1 DMD:c.8390G>C DMD:c.8390G>C LOVD substitution exon 1 DMD:c.8391-109A>G DMD:c.8391-109A>G LOVD substitution intron 1 DMD:c.8391-1G>A DMD:c.8391-1G>A LOVD substitution intron 1 DMD:c.8391-1G>C DMD:c.8391-1G>C LOVD substitution intron 1 DMD:c.8391-287T>C DMD:c.8391-287T>C LOVD substitution intron 1 DMD:c.8392_8402del DMD:c.8392_8402del LOVD deletion exon 1 DMD:c.8406delC DMD:c.8406delC LOVD deletion exon 1 DMD:c.8416C>T DMD:c.8416C>T LOVD substitution exon 1 DMD:c.8420G>A DMD:c.8420G>A LOVD substitution exon 1 DMD:c.8438delC DMD:c.8438delC LOVD deletion exon 1 DMD:c.8443C>T DMD:c.8443C>T LOVD substitution exon 1 DMD:c.8460G>A DMD:c.8460G>A LOVD substitution exon 1 DMD:c.8464C>T DMD:c.8464C>T LOVD substitution exon 1 DMD:c.8465delA DMD:c.8465delA LOVD deletion exon 1 DMD:c.8491C>T DMD:c.8491C>T LOVD substitution exon 1 DMD:c.8496A>C DMD:c.8496A>C LOVD substitution exon 1 DMD:c.8514dupT DMD:c.8514dupT LOVD duplication exon 1 DMD:c.8527A>T DMD:c.8527A>T LOVD substitution exon 1 DMD:c.8547+153C>T DMD:c.8547+153C>T LOVD substitution intron 1 DMD:c.8547+225A>T DMD:c.8547+225A>T LOVD substitution intron 1 DMD:c.8547+294T>G DMD:c.8547+294T>G LOVD substitution intron 1 DMD:c.8547+4302C>T DMD:c.8547+4302C>T LOVD substitution intron 1 DMD:c.8548-149A>G DMD:c.8548-149A>G LOVD substitution intron 1 DMD:c.8548-1580A>G DMD:c.8548-1580A>G LOVD substitution intron 1 DMD:c.8548-181T>C DMD:c.8548-181T>C LOVD substitution intron 1 DMD:c.8548-249T>C DMD:c.8548-249T>C LOVD substitution intron 1 DMD:c.8548-250A>G DMD:c.8548-250A>G LOVD substitution intron 1 DMD:c.8548-2A>G DMD:c.8548-2A>G LOVD substitution intron 1 DMD:c.8571T>C DMD:c.8571T>C LOVD substitution exon 1 DMD:c.8579C>A DMD:c.8579C>A LOVD substitution exon 1 DMD:c.858T>G DMD:c.858T>G LOVD substitution exon 1 DMD:c.8605_8606del DMD:c.8605_8606del LOVD deletion exon 1 DMD:c.8608C>T DMD:c.8608C>T LOVD substitution exon 1 DMD:c.8641delC DMD:c.8641delC LOVD deletion exon 1 DMD:c.8652_8653del DMD:c.8652_8653del LOVD deletion exon 1 DMD:c.8655C>A DMD:c.8655C>A LOVD substitution exon 1 DMD:c.8656C>T DMD:c.8656C>T LOVD substitution exon 1 DMD:c.8668+19A>G DMD:c.8668+19A>G LOVD substitution intron 1 DMD:c.8668+209C>T DMD:c.8668+209C>T LOVD substitution intron 1 DMD:c.8668+2T>C DMD:c.8668+2T>C LOVD substitution intron 1 DMD:c.8668G>A DMD:c.8668G>A LOVD substitution exon 1 DMD:c.8669-171A>C DMD:c.8669-171A>C LOVD substitution intron 1 DMD:c.8669-1G>C DMD:c.8669-1G>C LOVD substitution intron 1 DMD:c.8669-1G>T DMD:c.8669-1G>T LOVD substitution intron 1 DMD:c.8669-2A>G DMD:c.8669-2A>G LOVD substitution intron 1 DMD:c.8669-75C>G DMD:c.8669-75C>G LOVD substitution intron 1 DMD:c.8669-85C>T DMD:c.8669-85C>T LOVD substitution intron 1 DMD:c.8680G>T DMD:c.8680G>T LOVD substitution exon 1 DMD:c.8686A>T DMD:c.8686A>T LOVD substitution exon 1 DMD:c.8692C>T DMD:c.8692C>T LOVD substitution exon 1 DMD:c.8713C>T DMD:c.8713C>T LOVD substitution exon 1 DMD:c.8728G>T DMD:c.8728G>T LOVD substitution exon 1 DMD:c.8729A>G DMD:c.8729A>G LOVD substitution exon 1 DMD:c.8729A>T DMD:c.8729A>T LOVD substitution exon 1 DMD:c.8732_8733insA DMD:c.8732_8733insA LOVD insertion exon 1 DMD:c.8733delC DMD:c.8733delC LOVD deletion exon 1 DMD:c.8734A>G DMD:c.8734A>G LOVD substitution exon 1 DMD:c.8745G>A DMD:c.8745G>A LOVD substitution exon 1 DMD:c.8746G>T DMD:c.8746G>T LOVD substitution exon 1 DMD:c.8751dupA DMD:c.8751dupA LOVD duplication exon 1 DMD:c.8754delG DMD:c.8754delG LOVD deletion exon 1 DMD:c.8759_8760ins218 DMD:c.8759_8760ins218 LOVD insertion exon 1 DMD:c.8762A>G DMD:c.8762A>G LOVD substitution exon 1 DMD:c.8774G>A DMD:c.8774G>A LOVD substitution exon 1 DMD:c.8775G>A DMD:c.8775G>A LOVD substitution exon 1 DMD:c.8776C>T DMD:c.8776C>T LOVD substitution exon 1 DMD:c.8785delA DMD:c.8785delA LOVD deletion exon 1 DMD:c.8785dupA DMD:c.8785dupA LOVD duplication exon 1 DMD:c.8791G>T DMD:c.8791G>T LOVD substitution exon 1 DMD:c.8807_8808del DMD:c.8807_8808del LOVD deletion exon 1 DMD:c.8810A>G DMD:c.8810A>G LOVD substitution exon 1 DMD:c.8833G>C DMD:c.8833G>C LOVD substitution exon 1 DMD:c.883C>T DMD:c.883C>T LOVD substitution exon 1 DMD:c.8844delC DMD:c.8844delC LOVD deletion exon 1 DMD:c.8852G>A DMD:c.8852G>A LOVD substitution exon 1 DMD:c.8854C>T DMD:c.8854C>T LOVD substitution exon 1 DMD:c.8872G>T DMD:c.8872G>T LOVD substitution exon 1 DMD:c.8879G>A DMD:c.8879G>A LOVD substitution exon 1 DMD:c.887dupT DMD:c.887dupT LOVD duplication exon 1 DMD:c.8897_8898dup DMD:c.8897_8898dup LOVD duplication exon 1 DMD:c.8905delG DMD:c.8905delG LOVD deletion exon 1 DMD:c.8912_8913del DMD:c.8912_8913del LOVD deletion exon 1 DMD:c.8912_8913dup DMD:c.8912_8913dup LOVD duplication exon 1 DMD:c.8914C>T DMD:c.8914C>T LOVD substitution exon 1 DMD:c.8920delC DMD:c.8920delC LOVD deletion exon 1 DMD:c.8937+145T>C DMD:c.8937+145T>C LOVD substitution intron 1 DMD:c.8937+198T>C DMD:c.8937+198T>C LOVD substitution intron 1 DMD:c.8937+2T>C DMD:c.8937+2T>C LOVD substitution intron 1 DMD:c.8937+308delG DMD:c.8937+308delG LOVD deletion intron 1 DMD:c.8938-4250T>C DMD:c.8938-4250T>C LOVD substitution intron 1 DMD:c.8938-431G>A DMD:c.8938-431G>A LOVD substitution intron 1 DMD:c.8938-9T>A DMD:c.8938-9T>A LOVD substitution intron 1 DMD:c.8944C>T DMD:c.8944C>T LOVD substitution exon 1 DMD:c.8945G>A DMD:c.8945G>A LOVD substitution exon 1 DMD:c.8955dupT DMD:c.8955dupT LOVD duplication exon 1 DMD:c.8970_8971del DMD:c.8970_8971del LOVD deletion exon 1 DMD:c.897T>G DMD:c.897T>G LOVD substitution exon 1 DMD:c.8988T>C DMD:c.8988T>C LOVD substitution exon 1 DMD:c.9001C>T DMD:c.9001C>T LOVD substitution exon 1 DMD:c.9031C>T DMD:c.9031C>T LOVD substitution exon 1 DMD:c.9033G>A DMD:c.9033G>A LOVD substitution exon 1 DMD:c.9035_9041del DMD:c.9035_9041del LOVD deletion exon 1 DMD:c.903C>A DMD:c.903C>A LOVD substitution exon 1 DMD:c.903C>G DMD:c.903C>G LOVD substitution exon 1 DMD:c.9072G>A DMD:c.9072G>A LOVD substitution exon 1 DMD:c.907C>T DMD:c.907C>T LOVD substitution exon 1 DMD:c.9082C>T DMD:c.9082C>T LOVD substitution exon 1 DMD:c.9084+19650A>G DMD:c.9084+19650A>G LOVD substitution intron 1 DMD:c.9084+66A>C DMD:c.9084+66A>C LOVD substitution intron 1 DMD:c.9084+7242G>T DMD:c.9084+7242G>T LOVD substitution intron 1 DMD:c.9084G>A DMD:c.9084G>A LOVD substitution exon 1 DMD:c.9085-10137G>C DMD:c.9085-10137G>C LOVD substitution intron 1 DMD:c.9085-15519G>T DMD:c.9085-15519G>T LOVD substitution intron 1 DMD:c.9085-16521A>G DMD:c.9085-16521A>G LOVD substitution intron 1 DMD:c.9085-1G>A DMD:c.9085-1G>A LOVD substitution intron 1 DMD:c.9085-26739G>T DMD:c.9085-26739G>T LOVD substitution intron 1 DMD:c.9085-38delA DMD:c.9085-38delA LOVD deletion intron 1 DMD:c.9085-431T>C DMD:c.9085-431T>C LOVD substitution intron 1 DMD:c.9085-70G>T DMD:c.9085-70G>T LOVD substitution intron 1 DMD:c.9085-9730C>A DMD:c.9085-9730C>A LOVD substitution intron 1 DMD:c.9090delC DMD:c.9090delC LOVD deletion exon 1 DMD:c.9093C>T DMD:c.9093C>T LOVD substitution exon 1 DMD:c.9094G>A DMD:c.9094G>A LOVD substitution exon 1 DMD:c.9097_9103dup DMD:c.9097_9103dup LOVD duplication exon 1 DMD:c.9100C>T DMD:c.9100C>T LOVD substitution exon 1 DMD:c.9109C>T DMD:c.9109C>T LOVD substitution exon 1 DMD:c.9126_9133dup DMD:c.9126_9133dup LOVD duplication exon 1 DMD:c.9135delT DMD:c.9135delT LOVD deletion exon 1 DMD:c.9148C>T DMD:c.9148C>T LOVD substitution exon 1 DMD:c.9156dupT DMD:c.9156dupT LOVD duplication exon 1 DMD:c.9158_9161del DMD:c.9158_9161del LOVD deletion exon 1 DMD:c.9160delT DMD:c.9160delT LOVD deletion exon 1 DMD:c.9163+189G>T DMD:c.9163+189G>T LOVD substitution intron 1 DMD:c.9163+1G>A DMD:c.9163+1G>A LOVD substitution intron 1 DMD:c.9163+3168T>C DMD:c.9163+3168T>C LOVD substitution intron 1 DMD:c.9163+38C>A DMD:c.9163+38C>A LOVD substitution intron 1 DMD:c.9164-145A>G DMD:c.9164-145A>G LOVD substitution intron 1 DMD:c.9164-14_9169del DMD:c.9164-14_9169del LOVD deletion intron 1 DMD:c.9164-1G>T DMD:c.9164-1G>T LOVD substitution intron 1 DMD:c.9165_9172dup DMD:c.9165_9172dup LOVD duplication exon 1 DMD:c.9176delG DMD:c.9176delG LOVD deletion exon 1 DMD:c.9176G>A DMD:c.9176G>A LOVD substitution exon 1 DMD:c.9182G>A DMD:c.9182G>A LOVD substitution exon 1 DMD:c.9183G>A DMD:c.9183G>A LOVD substitution exon 1 DMD:c.9197C>A DMD:c.9197C>A LOVD substitution exon 1 DMD:c.9204_9207del DMD:c.9204_9207del LOVD deletion exon 1 DMD:c.9216C>A DMD:c.9216C>A LOVD substitution exon 1 DMD:c.9216C>G DMD:c.9216C>G LOVD substitution exon 1 DMD:c.9224+151C>A DMD:c.9224+151C>A LOVD substitution intron 1 DMD:c.9224+18372C>T DMD:c.9224+18372C>T LOVD substitution intron 1 DMD:c.9224+1G>A DMD:c.9224+1G>A LOVD substitution intron 1 DMD:c.9224+1G>T DMD:c.9224+1G>T LOVD substitution intron 1 DMD:c.9224+20697T>A DMD:c.9224+20697T>A LOVD substitution intron 1 DMD:c.9224+20823G>A DMD:c.9224+20823G>A LOVD substitution intron 1 DMD:c.9224+25080A>C DMD:c.9224+25080A>C LOVD substitution intron 1 DMD:c.9224+264T>A DMD:c.9224+264T>A LOVD substitution intron 1 DMD:c.9224+265A>G DMD:c.9224+265A>G LOVD substitution intron 1 DMD:c.9224+27553A>G DMD:c.9224+27553A>G LOVD substitution intron 1 DMD:c.9224+5G>C DMD:c.9224+5G>C LOVD substitution intron 1 DMD:c.9224+9421G>A DMD:c.9224+9421G>A LOVD substitution intron 1 DMD:c.9224+9457G>T DMD:c.9224+9457G>T LOVD substitution intron 1 DMD:c.9225-10753A>G DMD:c.9225-10753A>G LOVD substitution intron 1 DMD:c.9225-10811A>G DMD:c.9225-10811A>G LOVD substitution intron 1 DMD:c.9225-11140T>C DMD:c.9225-11140T>C LOVD substitution intron 1 DMD:c.9225-13477T>A DMD:c.9225-13477T>A LOVD substitution intron 1 DMD:c.9225-138A>G DMD:c.9225-138A>G LOVD substitution intron 1 DMD:c.9225-160A>G DMD:c.9225-160A>G LOVD substitution intron 1 DMD:c.9225-1G>A DMD:c.9225-1G>A LOVD substitution intron 1 DMD:c.9225-24736A>G DMD:c.9225-24736A>G LOVD substitution intron 1 DMD:c.9225-285A>G DMD:c.9225-285A>G LOVD substitution intron 1 DMD:c.9225-287C>A DMD:c.9225-287C>A LOVD substitution intron 1 DMD:c.9225-647A>G DMD:c.9225-647A>G LOVD substitution intron 1 DMD:c.9225-675A>G DMD:c.9225-675A>G LOVD substitution intron 1 DMD:c.9238dupA DMD:c.9238dupA LOVD duplication exon 1 DMD:c.9238_9241del DMD:c.9238_9241del LOVD deletion exon 1 DMD:c.9262delA DMD:c.9262delA LOVD deletion exon 1 DMD:c.9269_9273delinsTCTTTTACCAAAATGACAGTCTT DMD:c.9269_9273delinsTCTTTTACCAAAATGACAGTCTT LOVD complex exon 1 DMD:c.9284T>G DMD:c.9284T>G LOVD substitution exon 1 DMD:c.9286+1060T>C DMD:c.9286+1060T>C LOVD substitution intron 1 DMD:c.9286+10692G>C DMD:c.9286+10692G>C LOVD substitution intron 1 DMD:c.9286+16708G>A DMD:c.9286+16708G>A LOVD substitution intron 1 DMD:c.9286+18135A>G DMD:c.9286+18135A>G LOVD substitution intron 1 DMD:c.9286+2T>A DMD:c.9286+2T>A LOVD substitution intron 1 DMD:c.9286+52A>T DMD:c.9286+52A>T LOVD substitution intron 1 DMD:c.9286+8598C>A DMD:c.9286+8598C>A LOVD substitution intron 1 DMD:c.9286+8628C>T DMD:c.9286+8628C>T LOVD substitution intron 1 DMD:c.9287-119A>G DMD:c.9287-119A>G LOVD substitution intron 1 DMD:c.9287-16546T>C DMD:c.9287-16546T>C LOVD substitution intron 1 DMD:c.9287-18294G>T DMD:c.9287-18294G>T LOVD substitution intron 1 DMD:c.9287-2A>G DMD:c.9287-2A>G LOVD substitution intron 1 DMD:c.9287-4814C>A DMD:c.9287-4814C>A LOVD substitution intron 1 DMD:c.9287-501T>C DMD:c.9287-501T>C LOVD substitution intron 1 DMD:c.9287-502A>C DMD:c.9287-502A>C LOVD substitution intron 1 DMD:c.9287-6344G>A DMD:c.9287-6344G>A LOVD substitution intron 1 DMD:c.9291C>T DMD:c.9291C>T LOVD substitution exon 1 DMD:c.93+183A>G DMD:c.93+183A>G LOVD substitution intron 1 DMD:c.93+1G>C DMD:c.93+1G>C LOVD substitution intron 1 DMD:c.93+1G>T DMD:c.93+1G>T LOVD substitution intron 1 DMD:c.93+1_93+5del DMD:c.93+1_93+5del LOVD deletion intron 1 DMD:c.93+240A>G DMD:c.93+240A>G LOVD substitution intron 1 DMD:c.93+303T>A DMD:c.93+303T>A LOVD substitution intron 1 DMD:c.93+33589G>T DMD:c.93+33589G>T LOVD substitution intron 1 DMD:c.93+45110A>C DMD:c.93+45110A>C LOVD substitution intron 1 DMD:c.93+5590T>A DMD:c.93+5590T>A LOVD substitution intron 1 DMD:c.93+59886C>T DMD:c.93+59886C>T LOVD substitution intron 1 DMD:c.93+59925G>A DMD:c.93+59925G>A LOVD substitution intron 1 DMD:c.93+77102_650-41069del DMD:c.93+77102_650-41069del LOVD deletion intron 1 DMD:c.93+98T>C DMD:c.93+98T>C LOVD substitution intron 1 DMD:c.93-?_94-?del DMD:c.93-?_94-?del LOVD deletion not within known transcription unit 0 DMD:c.9319_9320insAA DMD:c.9319_9320insAA LOVD insertion exon 1 DMD:c.9328_9337del DMD:c.9328_9337del LOVD deletion exon 1 DMD:c.9333delA DMD:c.9333delA LOVD deletion exon 1 DMD:c.9337C>T DMD:c.9337C>T LOVD substitution exon 1 DMD:c.9346C>T DMD:c.9346C>T LOVD substitution exon 1 DMD:c.9360C>A DMD:c.9360C>A LOVD substitution exon 1 DMD:c.9361+138T>C DMD:c.9361+138T>C LOVD substitution intron 1 DMD:c.9361+14A>G DMD:c.9361+14A>G LOVD substitution intron 1 DMD:c.9361+1delG DMD:c.9361+1delG LOVD deletion intron 1 DMD:c.9361+1G>A DMD:c.9361+1G>A LOVD substitution intron 1 DMD:c.9361+259G>T DMD:c.9361+259G>T LOVD substitution intron 1 DMD:c.9361+364A>G DMD:c.9361+364A>G LOVD substitution intron 1 DMD:c.9361+383C>T DMD:c.9361+383C>T LOVD substitution intron 1 DMD:c.9361+5G>C DMD:c.9361+5G>C LOVD substitution intron 1 DMD:c.9361dupT DMD:c.9361dupT LOVD duplication exon 1 DMD:c.9362-114T>C DMD:c.9362-114T>C LOVD substitution intron 1 DMD:c.9362-1delG DMD:c.9362-1delG LOVD deletion intron 1 DMD:c.9362-1G>A DMD:c.9362-1G>A LOVD substitution intron 1 DMD:c.9362-69G>A DMD:c.9362-69G>A LOVD substitution intron 1 DMD:c.9364delG DMD:c.9364delG LOVD deletion exon 1 DMD:c.9380C>G DMD:c.9380C>G LOVD substitution exon 1 DMD:c.9391delG DMD:c.9391delG LOVD deletion exon 1 DMD:c.9398T>A DMD:c.9398T>A LOVD substitution exon 1 DMD:c.94-112A>T DMD:c.94-112A>T LOVD substitution intron 1 DMD:c.94-133G>A DMD:c.94-133G>A LOVD substitution intron 1 DMD:c.94-160dupT DMD:c.94-160dupT LOVD duplication intron 1 DMD:c.94-161dupT DMD:c.94-161dupT LOVD duplication intron 1 DMD:c.94-1G>A DMD:c.94-1G>A LOVD substitution intron 1 DMD:c.94-1G>C DMD:c.94-1G>C LOVD substitution intron 1 DMD:c.94-1G>T DMD:c.94-1G>T LOVD substitution intron 1 DMD:c.94-25702_649+44558del DMD:c.94-25702_649+44558del LOVD deletion intron 1 DMD:c.94-2A>G DMD:c.94-2A>G LOVD substitution intron 1 DMD:c.94-2A>T DMD:c.94-2A>T LOVD substitution intron 1 DMD:c.94-57004T>C DMD:c.94-57004T>C LOVD substitution intron 1 DMD:c.94-60G>T DMD:c.94-60G>T LOVD substitution intron 1 DMD:c.94-68265G>A DMD:c.94-68265G>A LOVD substitution intron 1 DMD:c.94-73393A>G DMD:c.94-73393A>G LOVD substitution intron 1 DMD:c.94-9dupT DMD:c.94-9dupT LOVD duplication intron 1 DMD:c.94-9T>A DMD:c.94-9T>A LOVD substitution intron 1 DMD:c.9403C>T DMD:c.9403C>T LOVD substitution exon 1 DMD:c.9427C>T DMD:c.9427C>T LOVD substitution exon 1 DMD:c.9432delC DMD:c.9432delC LOVD deletion exon 1 DMD:c.9445C>T DMD:c.9445C>T LOVD substitution exon 1 DMD:c.9454_9457del DMD:c.9454_9457del LOVD deletion exon 1 DMD:c.9459_9462del DMD:c.9459_9462del LOVD deletion exon 1 DMD:c.9461T>A DMD:c.9461T>A LOVD substitution exon 1 DMD:c.9471_9474del DMD:c.9471_9474del LOVD deletion exon 1 DMD:c.9519C>A DMD:c.9519C>A LOVD substitution exon 1 DMD:c.9551dupA DMD:c.9551dupA LOVD duplication exon 1 DMD:c.9560A>G DMD:c.9560A>G LOVD substitution exon 1 DMD:c.9563+1215A>G DMD:c.9563+1215A>G LOVD substitution intron 1 DMD:c.9563+193T>C DMD:c.9563+193T>C LOVD substitution intron 1 DMD:c.9563+1G>A DMD:c.9563+1G>A LOVD substitution intron 1 DMD:c.9563+1_9563+7delinsAT DMD:c.9563+1_9563+7delinsAT LOVD complex intron 1 DMD:c.9563+27G>A DMD:c.9563+27G>A LOVD substitution intron 1 DMD:c.9563+68G>A DMD:c.9563+68G>A LOVD substitution intron 1 DMD:c.9564-210T>C DMD:c.9564-210T>C LOVD substitution intron 1 DMD:c.9564-267A>G DMD:c.9564-267A>G LOVD substitution intron 1 DMD:c.9564-286G>A DMD:c.9564-286G>A LOVD substitution intron 1 DMD:c.9564-287T>C DMD:c.9564-287T>C LOVD substitution intron 1 DMD:c.9564-2A>G DMD:c.9564-2A>G LOVD substitution intron 1 DMD:c.9564-2A>T DMD:c.9564-2A>T LOVD substitution intron 1 DMD:c.9564-30A>T DMD:c.9564-30A>T LOVD substitution intron 1 DMD:c.9564-427T>G DMD:c.9564-427T>G LOVD substitution intron 1 DMD:c.9564-97C>T DMD:c.9564-97C>T LOVD substitution intron 1 DMD:c.9568C>T DMD:c.9568C>T LOVD substitution exon 1 DMD:c.956C>G DMD:c.956C>G LOVD substitution exon 1 DMD:c.9573delA DMD:c.9573delA LOVD deletion exon 1 DMD:c.9592_9604dup DMD:c.9592_9604dup LOVD duplication exon 1 DMD:c.9597delT DMD:c.9597delT LOVD deletion exon 1 DMD:c.960+11967A>G DMD:c.960+11967A>G LOVD substitution intron 1 DMD:c.960+312T>G DMD:c.960+312T>G LOVD substitution intron 1 DMD:c.960+330G>A DMD:c.960+330G>A LOVD substitution intron 1 DMD:c.960+388G>A DMD:c.960+388G>A LOVD substitution intron 1 DMD:c.960+412C>T DMD:c.960+412C>T LOVD substitution intron 1 DMD:c.960+50delG DMD:c.960+50delG LOVD deletion intron 1 DMD:c.9600_9601del DMD:c.9600_9601del LOVD deletion exon 1 DMD:c.961-109A>G DMD:c.961-109A>G LOVD substitution intron 1 DMD:c.961-11317C>G DMD:c.961-11317C>G LOVD substitution intron 1 DMD:c.961-124G>C DMD:c.961-124G>C LOVD substitution intron 1 DMD:c.961-12964C>T DMD:c.961-12964C>T LOVD substitution intron 1 DMD:c.961-146A>G DMD:c.961-146A>G LOVD substitution intron 1 DMD:c.961-148C>T DMD:c.961-148C>T LOVD substitution intron 1 DMD:c.961-36T>G DMD:c.961-36T>G LOVD substitution intron 1 DMD:c.961-39A>G DMD:c.961-39A>G LOVD substitution intron 1 DMD:c.961-5831C>T DMD:c.961-5831C>T LOVD substitution intron 1 DMD:c.961-5925A>C DMD:c.961-5925A>C LOVD substitution intron 1 DMD:c.9619T>C DMD:c.9619T>C LOVD substitution exon 1 DMD:c.9619_9626del DMD:c.9619_9626del LOVD deletion exon 1 DMD:c.9640A>T DMD:c.9640A>T LOVD substitution exon 1 DMD:c.9640_9641del DMD:c.9640_9641del LOVD deletion exon 1 DMD:c.9649+15T>C DMD:c.9649+15T>C LOVD substitution intron 1 DMD:c.9649+1G>A DMD:c.9649+1G>A LOVD substitution intron 1 DMD:c.9649+2T>C DMD:c.9649+2T>C LOVD substitution intron 1 DMD:c.9649+5G>T DMD:c.9649+5G>T LOVD substitution intron 1 DMD:c.9649+86A>T DMD:c.9649+86A>T LOVD substitution intron 1 DMD:c.9650-158A>C DMD:c.9650-158A>C LOVD substitution intron 1 DMD:c.9650-273G>A DMD:c.9650-273G>A LOVD substitution intron 1 DMD:c.9650-342A>G DMD:c.9650-342A>G LOVD substitution intron 1 DMD:c.9650-3_9653del DMD:c.9650-3_9653del LOVD deletion intron 1 DMD:c.9650-64C>T DMD:c.9650-64C>T LOVD substitution intron 1 DMD:c.9651C>A DMD:c.9651C>A LOVD substitution exon 1 DMD:c.9655T>C DMD:c.9655T>C LOVD substitution exon 1 DMD:c.9657_9658ins325 DMD:c.9657_9658ins325 LOVD insertion exon 1 DMD:c.965T>A DMD:c.965T>A LOVD substitution exon 1 DMD:c.9663delA DMD:c.9663delA LOVD deletion exon 1 DMD:c.9672_9673insG DMD:c.9672_9673insG LOVD insertion exon 1 DMD:c.9673delT DMD:c.9673delT LOVD deletion exon 1 DMD:c.9682T>C DMD:c.9682T>C LOVD substitution exon 1 DMD:c.9691C>T DMD:c.9691C>T LOVD substitution exon 1 DMD:c.9695G>A DMD:c.9695G>A LOVD substitution exon 1 DMD:c.9739C>T DMD:c.9739C>T LOVD substitution exon 1 DMD:c.9748G>T DMD:c.9748G>T LOVD substitution exon 1 DMD:c.9783_9784del DMD:c.9783_9784del LOVD deletion exon 1 DMD:c.9804A>G DMD:c.9804A>G LOVD substitution exon 1 DMD:c.9806_9807dup DMD:c.9806_9807dup LOVD duplication exon 1 DMD:c.9807+139G>T DMD:c.9807+139G>T LOVD substitution intron 1 DMD:c.9807+1G>C DMD:c.9807+1G>C LOVD substitution intron 1 DMD:c.9807+218C>G DMD:c.9807+218C>G LOVD substitution intron 1 DMD:c.9807+2714C>T DMD:c.9807+2714C>T LOVD substitution intron 1 DMD:c.9807+3334T>C DMD:c.9807+3334T>C LOVD substitution intron 1 DMD:c.9807+3563C>T DMD:c.9807+3563C>T LOVD substitution intron 1 DMD:c.9807+3832C>T DMD:c.9807+3832C>T LOVD substitution intron 1 DMD:c.9807+423delT DMD:c.9807+423delT LOVD deletion intron 1 DMD:c.9807+4delA DMD:c.9807+4delA LOVD deletion intron 1 DMD:c.9807+5G>A DMD:c.9807+5G>A LOVD substitution intron 1 DMD:c.9807+63A>G DMD:c.9807+63A>G LOVD substitution intron 1 DMD:c.9808-1G>A DMD:c.9808-1G>A LOVD substitution intron 1 DMD:c.9813_9814del DMD:c.9813_9814del LOVD deletion exon 1 DMD:c.9822dupA DMD:c.9822dupA LOVD duplication exon 1 DMD:c.9832dupG DMD:c.9832dupG LOVD duplication exon 1 DMD:c.9851G>A DMD:c.9851G>A LOVD substitution exon 1 DMD:c.9854_9863del DMD:c.9854_9863del LOVD deletion exon 1 DMD:c.9862G>T DMD:c.9862G>T LOVD substitution exon 1 DMD:c.986C>G DMD:c.986C>G LOVD substitution exon 1 DMD:c.9880_9881dup DMD:c.9880_9881dup LOVD duplication exon 1 DMD:c.9882G>A DMD:c.9882G>A LOVD substitution exon 1 DMD:c.9897_9898del DMD:c.9897_9898del LOVD deletion exon 1 DMD:c.9913G>T DMD:c.9913G>T LOVD substitution exon 1 DMD:c.9916delA DMD:c.9916delA LOVD deletion exon 1 DMD:c.9928C>T DMD:c.9928C>T LOVD substitution exon 1 DMD:c.992delG DMD:c.992delG LOVD deletion exon 1 DMD:c.9931G>C DMD:c.9931G>C LOVD substitution exon 1 DMD:c.9934A>G DMD:c.9934A>G LOVD substitution exon 1 DMD:c.9938G>T DMD:c.9938G>T LOVD substitution exon 1 DMD:c.9938_9941dup DMD:c.9938_9941dup LOVD duplication exon 1 DMD:c.9952G>T DMD:c.9952G>T LOVD substitution exon 1 DMD:c.9955T>C DMD:c.9955T>C LOVD substitution exon 1 DMD:c.9959C>G DMD:c.9959C>G LOVD substitution exon 1 DMD:c.9959delC DMD:c.9959delC LOVD deletion exon 1 DMD:c.9974+13delA DMD:c.9974+13delA LOVD deletion intron 1 DMD:c.9974+13dupA DMD:c.9974+13dupA LOVD duplication intron 1 DMD:c.9974+1G>A DMD:c.9974+1G>A LOVD substitution intron 1 DMD:c.9974+1G>T DMD:c.9974+1G>T LOVD substitution intron 1 DMD:c.9974+21_9974+22dup DMD:c.9974+21_9974+22dup LOVD duplication intron 1 DMD:c.9974+22delA DMD:c.9974+22delA LOVD deletion intron 1 DMD:c.9974+22dupA DMD:c.9974+22dupA LOVD duplication intron 1 DMD:c.9974+23delT DMD:c.9974+23delT LOVD deletion intron 1 DMD:c.9974+2T>A DMD:c.9974+2T>A LOVD substitution intron 1 DMD:c.9974+3A>G DMD:c.9974+3A>G LOVD substitution intron 1 DMD:c.9974+3A>T DMD:c.9974+3A>T LOVD substitution intron 1 DMD:c.9975-111A>G DMD:c.9975-111A>G LOVD substitution intron 1 DMD:c.9975-2A>G DMD:c.9975-2A>G LOVD substitution intron 1 DMD:c.9975-460A>G DMD:c.9975-460A>G LOVD substitution intron 1 DMD:c.9975-79G>A DMD:c.9975-79G>A LOVD substitution intron 1 DMD:c.9978C>G DMD:c.9978C>G LOVD substitution exon 1 DMD:c.9986delT DMD:c.9986delT LOVD deletion exon 1 DMD:c.9989_9991delinsCGA DMD:c.9989_9991delinsCGA LOVD complex exon 1 DMD:c.998C>A DMD:c.998C>A LOVD substitution exon 1 DMD:c.9995T>G DMD:c.9995T>G LOVD substitution exon 1 DMD:c.9G>A DMD:c.9G>A LOVD substitution exon 1 DMD_d:c.8218-?_9286+?del DMD_d:c.8218-?_9286+?del LOVD deletion not within known transcription unit 0 DMD_d:c.-13496_31+1783del DMD_d:c.-13496_31+1783del LOVD deletion not within known transcription unit 1 DMD_d:c.-1443_31+4726delinsTTTTTAAAATTA DMD_d:c.-1443_31+4726delinsTTTTTAAAATTA LOVD complex not within known transcription unit 1 DMD_d:c.-244-?_5922+?del DMD_d:c.-244-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.10263-?_*2691+?del DMD_d:c.10263-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.10329-?_*2691+?del DMD_d:c.10329-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.10329-?_10921+?del DMD_d:c.10329-?_10921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.10554-?_*2691+?del DMD_d:c.10554-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.10554-?_10921+?del DMD_d:c.10554-?_10921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_1331+?dup DMD_d:c.1150-?_1331+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1150-?_1602+?del DMD_d:c.1150-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_2168+?del DMD_d:c.1150-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_2292+?del DMD_d:c.1150-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_3432+?del DMD_d:c.1150-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_3786+?del DMD_d:c.1150-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_4071+?del DMD_d:c.1150-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_4233+?del DMD_d:c.1150-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_5325+?del DMD_d:c.1150-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_5922+?del DMD_d:c.1150-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_6438+?del DMD_d:c.1150-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1150-?_7098+?del DMD_d:c.1150-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_1482+?del DMD_d:c.1332-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_1482+?dup DMD_d:c.1332-?_1482+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_1602+?del DMD_d:c.1332-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_1602+?dup DMD_d:c.1332-?_1602+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_1812+?del DMD_d:c.1332-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_1812+?dup DMD_d:c.1332-?_1812+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_1992+?del DMD_d:c.1332-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_1992+?dup DMD_d:c.1332-?_1992+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_2168+?del DMD_d:c.1332-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_2168+?dup DMD_d:c.1332-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_2292+?dup DMD_d:c.1332-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_2380+?del DMD_d:c.1332-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_2380+?dup DMD_d:c.1332-?_2380+?dup LOVD duplication not within known transcription unit 0 VAR_053338 Q8NGI2:p.Leu167Arg SP substitution exon 1 DMD_d:c.1332-?_2622+?del DMD_d:c.1332-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_2803+?del DMD_d:c.1332-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_2803+?dup DMD_d:c.1332-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_2949+?del DMD_d:c.1332-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_3432+?del DMD_d:c.1332-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_3603+?dup DMD_d:c.1332-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_4071+?del DMD_d:c.1332-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_4233+?del DMD_d:c.1332-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_4233+?dup DMD_d:c.1332-?_4233+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_5325+?del DMD_d:c.1332-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_5922+?del DMD_d:c.1332-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_6117+?del DMD_d:c.1332-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_6290+?del DMD_d:c.1332-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_6438+?del DMD_d:c.1332-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_6438+?dup DMD_d:c.1332-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1332-?_6614+?del DMD_d:c.1332-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_7098+?del DMD_d:c.1332-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_7309+?del DMD_d:c.1332-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_7542+?del DMD_d:c.1332-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1332-?_8217+?del DMD_d:c.1332-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-196_6290+13272del DMD_d:c.1483-196_6290+13272del LOVD deletion intron 1 DMD_d:c.1483-?_1602+?del DMD_d:c.1483-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_1704+?dup DMD_d:c.1483-?_1704+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1483-?_2168+?del DMD_d:c.1483-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_2168+?dup DMD_d:c.1483-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1483-?_2380+?dup DMD_d:c.1483-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1483-?_2622+?del DMD_d:c.1483-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_4071+?del DMD_d:c.1483-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_4071+?dup DMD_d:c.1483-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1483-?_4233+?del DMD_d:c.1483-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_4845+?del DMD_d:c.1483-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_5325+?del DMD_d:c.1483-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_5739+?del DMD_d:c.1483-?_5739+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_5739+?dup DMD_d:c.1483-?_5739+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1483-?_5922+?del DMD_d:c.1483-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_6117+?del DMD_d:c.1483-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_6117+?dup DMD_d:c.1483-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1483-?_6290+?del DMD_d:c.1483-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_6438+?del DMD_d:c.1483-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_6912+?del DMD_d:c.1483-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_7098+?del DMD_d:c.1483-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_7309+?del DMD_d:c.1483-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1483-?_7542+?del DMD_d:c.1483-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_1704+?del DMD_d:c.1603-?_1704+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_1812+?del DMD_d:c.1603-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_2168+?del DMD_d:c.1603-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_2168+?dup DMD_d:c.1603-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_2292+?del DMD_d:c.1603-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_2292+?dup DMD_d:c.1603-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_2803+?del DMD_d:c.1603-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_2803+?dup DMD_d:c.1603-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_2949+?dup DMD_d:c.1603-?_2949+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_3603+?dup DMD_d:c.1603-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_3786+?dup DMD_d:c.1603-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_4334+?del DMD_d:c.1603-?_4334+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_4845+?dup DMD_d:c.1603-?_4845+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_5922+?del DMD_d:c.1603-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_6117+?dup DMD_d:c.1603-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_6290+?del DMD_d:c.1603-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_6438+?del DMD_d:c.1603-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1603-?_6438+?dup DMD_d:c.1603-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_6614+?dup DMD_d:c.1603-?_6614+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_6912+?dup DMD_d:c.1603-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1603-?_9084+?del DMD_d:c.1603-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1705-?_1812+?del DMD_d:c.1705-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_1992+?del DMD_d:c.1813-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_1992+?dup DMD_d:c.1813-?_1992+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1813-?_2168+?del DMD_d:c.1813-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_2168+?dup DMD_d:c.1813-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1813-?_2380+?del DMD_d:c.1813-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_2803+?del DMD_d:c.1813-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_3786+?dup DMD_d:c.1813-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1813-?_4071+?del DMD_d:c.1813-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_4845+?dup DMD_d:c.1813-?_4845+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1813-?_6117+?del DMD_d:c.1813-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1813-?_6117+?dup DMD_d:c.1813-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1813-?_6438+?del DMD_d:c.1813-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_1482+?del DMD_d:c.187-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_1602+?del DMD_d:c.187-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_1602+?dup DMD_d:c.187-?_1602+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.187-?_2168+?del DMD_d:c.187-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_2292+?del DMD_d:c.187-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_2380+?del DMD_d:c.187-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_2622+?del DMD_d:c.187-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_264+?dup DMD_d:c.187-?_264+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.187-?_2803+?del DMD_d:c.187-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_2949+?del DMD_d:c.187-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_4233+?del DMD_d:c.187-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_530+?del DMD_d:c.187-?_530+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_6117+?del DMD_d:c.187-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_6290+?del DMD_d:c.187-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_6438+?del DMD_d:c.187-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_649+?del DMD_d:c.187-?_649+?del LOVD deletion not within known transcription unit 0 DMD_d:c.187-?_649+?dup DMD_d:c.187-?_649+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.187-?_831+?dup DMD_d:c.187-?_831+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.187-?_832+?dup DMD_d:c.187-?_832+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.187-?_960+?del DMD_d:c.187-?_960+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_2168+?del DMD_d:c.1993-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_2168+?dup DMD_d:c.1993-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_2292+?del DMD_d:c.1993-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_2292+?dup DMD_d:c.1993-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_2380+?del DMD_d:c.1993-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_2380+?dup DMD_d:c.1993-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_2622+?del DMD_d:c.1993-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_2803+?del DMD_d:c.1993-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_2803+?dup DMD_d:c.1993-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_3786+?dup DMD_d:c.1993-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_5586+?del DMD_d:c.1993-?_5586+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_5586+?dup DMD_d:c.1993-?_5586+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_6290+?del DMD_d:c.1993-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_6438+?del DMD_d:c.1993-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_6438+?dup DMD_d:c.1993-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_7200+?del DMD_d:c.1993-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.1993-?_7200+?dup DMD_d:c.1993-?_7200+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.1993-?_7542+?del DMD_d:c.1993-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2168+?_2169-?dup DMD_d:c.2168+?_2169-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_2292+?del DMD_d:c.2169-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_2292+?dup DMD_d:c.2169-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_2380+?del DMD_d:c.2169-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_2380+?dup DMD_d:c.2169-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_2622+?del DMD_d:c.2169-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_2803+?del DMD_d:c.2169-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_2803+?dup DMD_d:c.2169-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_2949+?del DMD_d:c.2169-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_3162+?dup DMD_d:c.2169-?_3162+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_3432+?del DMD_d:c.2169-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_3432+?dup DMD_d:c.2169-?_3432+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_3603+?del DMD_d:c.2169-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_3786+?del DMD_d:c.2169-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_3786+?dup DMD_d:c.2169-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_3921+?del DMD_d:c.2169-?_3921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_3921+?dup DMD_d:c.2169-?_3921+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_4071+?del DMD_d:c.2169-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_4071+?dup DMD_d:c.2169-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_4518+?del DMD_d:c.2169-?_4518+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_4518+?dup DMD_d:c.2169-?_4518+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_4674+?del DMD_d:c.2169-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_4674+?dup DMD_d:c.2169-?_4674+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_4845+?del DMD_d:c.2169-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_4845+?dup DMD_d:c.2169-?_4845+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_5154+?del DMD_d:c.2169-?_5154+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_5325+?del DMD_d:c.2169-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_5325+?dup DMD_d:c.2169-?_5325+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_5448+?del DMD_d:c.2169-?_5448+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_5448+?dup DMD_d:c.2169-?_5448+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_5586+?del DMD_d:c.2169-?_5586+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_5922+?del DMD_d:c.2169-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_6117+?dup DMD_d:c.2169-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2169-?_6290+?del DMD_d:c.2169-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_6438+?del DMD_d:c.2169-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2169-?_7660+?dup DMD_d:c.2169-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_2380+?del DMD_d:c.2293-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_2380+?dup DMD_d:c.2293-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_2622+?del DMD_d:c.2293-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_2803+?del DMD_d:c.2293-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_2803+?dup DMD_d:c.2293-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_3432+?dup DMD_d:c.2293-?_3432+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_3603+?del DMD_d:c.2293-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_4071+?del DMD_d:c.2293-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_4845+?del DMD_d:c.2293-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_5325+?del DMD_d:c.2293-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_5922+?dup DMD_d:c.2293-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_6117+?del DMD_d:c.2293-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_6290+?del DMD_d:c.2293-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_6290+?dup DMD_d:c.2293-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_6438+?del DMD_d:c.2293-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_6438+?dup DMD_d:c.2293-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_6614+?del DMD_d:c.2293-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_6614+?dup DMD_d:c.2293-?_6614+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2293-?_7200+?del DMD_d:c.2293-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_7309+?del DMD_d:c.2293-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2293-?_7542+?[3] DMD_d:c.2293-?_7542+?[3] LOVD complex not within known transcription unit 0 DMD_d:c.2293-?_7660+?dup DMD_d:c.2293-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-2592_5922+9953dup DMD_d:c.2381-2592_5922+9953dup LOVD duplication intron 1 DMD_d:c.2381-?_2622+?del DMD_d:c.2381-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_2622+?dup DMD_d:c.2381-?_2622+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_2803+?del DMD_d:c.2381-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_2949+?del DMD_d:c.2381-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_3162+?del DMD_d:c.2381-?_3162+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_3432+?del DMD_d:c.2381-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_3432+?dup DMD_d:c.2381-?_3432+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_3603+?del DMD_d:c.2381-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_3603+?dup DMD_d:c.2381-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_3786+?del DMD_d:c.2381-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_3786+?dup DMD_d:c.2381-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_4071+?del DMD_d:c.2381-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_4071+?dup DMD_d:c.2381-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_4233+?del DMD_d:c.2381-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_4845+?del DMD_d:c.2381-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_5325+?del DMD_d:c.2381-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_5922+?del DMD_d:c.2381-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_5922+?dup DMD_d:c.2381-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_6290+?del DMD_d:c.2381-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_6290+?dup DMD_d:c.2381-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_6438+?del DMD_d:c.2381-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_6438+?dup DMD_d:c.2381-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_6614+?del DMD_d:c.2381-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_6912+?del DMD_d:c.2381-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2381-?_6912+?dup DMD_d:c.2381-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2381-?_7309+?del DMD_d:c.2381-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_2803+?del DMD_d:c.2623-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_2803+?dup DMD_d:c.2623-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2623-?_2949+?dup DMD_d:c.2623-?_2949+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2623-?_3603+?dup DMD_d:c.2623-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2623-?_4674+?del DMD_d:c.2623-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_5325+?del DMD_d:c.2623-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_6117+?del DMD_d:c.2623-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_6290+?del DMD_d:c.2623-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_6438+?del DMD_d:c.2623-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_6614+?del DMD_d:c.2623-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2623-?_8218+?dup DMD_d:c.2623-?_8218+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.264+?_265-?dup DMD_d:c.264+?_265-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_1150+?dup DMD_d:c.265-?_1150+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_1331+?del DMD_d:c.265-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_1331+?dup DMD_d:c.265-?_1331+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_1482+?dup DMD_d:c.265-?_1482+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_1602+?del DMD_d:c.265-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_1812+?del DMD_d:c.265-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_1992+?del DMD_d:c.265-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_2168+?del DMD_d:c.265-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_2168+?dup DMD_d:c.265-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_2292+?del DMD_d:c.265-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_2803+?del DMD_d:c.265-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_357+?del DMD_d:c.265-?_357+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_357+?dup DMD_d:c.265-?_357+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_3603+?del DMD_d:c.265-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_3603+?dup DMD_d:c.265-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_4071+?del DMD_d:c.265-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_4071+?dup DMD_d:c.265-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_4518+?del DMD_d:c.265-?_4518+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_4674+?del DMD_d:c.265-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_5154+?del DMD_d:c.265-?_5154+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_530+?del DMD_d:c.265-?_530+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_530+?dup DMD_d:c.265-?_530+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_5325+?del DMD_d:c.265-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_5922+?del DMD_d:c.265-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_6117+?del DMD_d:c.265-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_6290+?del DMD_d:c.265-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_6438+?del DMD_d:c.265-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_6438+?dup DMD_d:c.265-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_649+?del DMD_d:c.265-?_649+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_649+?dup DMD_d:c.265-?_649+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.265-?_7098+?del DMD_d:c.265-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_960+?del DMD_d:c.265-?_960+?del LOVD deletion not within known transcription unit 0 DMD_d:c.265-?_960+?dup DMD_d:c.265-?_960+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_2949+?del DMD_d:c.2804-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_2949+?dup DMD_d:c.2804-?_2949+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_3162+?dup DMD_d:c.2804-?_3162+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_3432+?dup DMD_d:c.2804-?_3432+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_3603+?del DMD_d:c.2804-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_3603+?dup DMD_d:c.2804-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_3786+?dup DMD_d:c.2804-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_4071+?del DMD_d:c.2804-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_4071+?dup DMD_d:c.2804-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_4233+?del DMD_d:c.2804-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_4233+?dup DMD_d:c.2804-?_4233+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_4344+?del DMD_d:c.2804-?_4344+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_4674+?del DMD_d:c.2804-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_4674+?dup DMD_d:c.2804-?_4674+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_4845+?del DMD_d:c.2804-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_5154+?del DMD_d:c.2804-?_5154+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_5922+?del DMD_d:c.2804-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_5922+?dup DMD_d:c.2804-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_6117+?del DMD_d:c.2804-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_6290+?del DMD_d:c.2804-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2804-?_6290+?dup DMD_d:c.2804-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.2804-?_6912+?del DMD_d:c.2804-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2950-?_6290+?del DMD_d:c.2950-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.2950-?_6438+?del DMD_d:c.2950-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.31+50946_93+30459dup DMD_d:c.31+50946_93+30459dup LOVD duplication intron 1 DMD_d:c.3163-?_3276+?del DMD_d:c.3163-?_3276+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3163-?_3432+?del DMD_d:c.3163-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3163-?_3603+?del DMD_d:c.3163-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3163-?_3786+?del DMD_d:c.3163-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3163-?_4071+?dup DMD_d:c.3163-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3163-?_4845+?del DMD_d:c.3163-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3163-?_5922+?del DMD_d:c.3163-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_1149+?dup DMD_d:c.32-?_1149+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_1331+?del DMD_d:c.32-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_1331+?dup DMD_d:c.32-?_1331+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_1482+?del DMD_d:c.32-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_1482+?dup DMD_d:c.32-?_1482+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_1602+?del DMD_d:c.32-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_1602+?dup DMD_d:c.32-?_1602+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_1812+?dup DMD_d:c.32-?_1812+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_186+?del DMD_d:c.32-?_186+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_1992+?del DMD_d:c.32-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_1992+?dup DMD_d:c.32-?_1992+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_2168+?del DMD_d:c.32-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_2168+?dup DMD_d:c.32-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_2292+?del DMD_d:c.32-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_2292+?dup DMD_d:c.32-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_2380+?del DMD_d:c.32-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_2380+?dup DMD_d:c.32-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_2622+?del DMD_d:c.32-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_264+?dup DMD_d:c.32-?_264+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_3432+?del DMD_d:c.32-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_357+?del DMD_d:c.32-?_357+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_357+?dup DMD_d:c.32-?_357+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_3603+?dup DMD_d:c.32-?_3603+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_3786+?del DMD_d:c.32-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_4071+?del DMD_d:c.32-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_4071+?dup DMD_d:c.32-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_4233+?del DMD_d:c.32-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_4233+?dup DMD_d:c.32-?_4233+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_4674+?del DMD_d:c.32-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_4674+?dup DMD_d:c.32-?_4674+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_4845+?dup DMD_d:c.32-?_4845+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_530+?del DMD_d:c.32-?_530+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_530+?dup DMD_d:c.32-?_530+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_5922+?dup DMD_d:c.32-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_6117+?del DMD_d:c.32-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_6290+?del DMD_d:c.32-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_6438+?del DMD_d:c.32-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_6438+?dup DMD_d:c.32-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_649+?del DMD_d:c.32-?_649+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_649+?dup DMD_d:c.32-?_649+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_831+?dup DMD_d:c.32-?_831+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_9084+?del DMD_d:c.32-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_9224+?del DMD_d:c.32-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.32-?_93+?dup DMD_d:c.32-?_93+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.32-?_960+?dup DMD_d:c.32-?_960+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3277-?_3786+?del DMD_d:c.3277-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3433-?_3921+?del DMD_d:c.3433-?_3921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3433-?_4233+?del DMD_d:c.3433-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3433-?_6290+?del DMD_d:c.3433-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3433-?_6290+?dup DMD_d:c.3433-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3433-?_6438+?del DMD_d:c.3433-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.357+628_649+15291delinsATG DMD_d:c.357+628_649+15291delinsATG LOVD complex intron 1 DMD_d:c.358-1330_649+38946del DMD_d:c.358-1330_649+38946del LOVD deletion intron 1 DMD_d:c.358-?_1149+?del DMD_d:c.358-?_1149+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_1331+?del DMD_d:c.358-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_1482+?del DMD_d:c.358-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_1602+?del DMD_d:c.358-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_2168+?del DMD_d:c.358-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_2292+?del DMD_d:c.358-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_2380+?del DMD_d:c.358-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_2380+?dup DMD_d:c.358-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.358-?_2622+?del DMD_d:c.358-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_2949+?del DMD_d:c.358-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_3921+?del DMD_d:c.358-?_3921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_530+?del DMD_d:c.358-?_530+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_530+?dup DMD_d:c.358-?_530+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.358-?_5922+?del DMD_d:c.358-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_6290+?del DMD_d:c.358-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_649+?del DMD_d:c.358-?_649+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_649+?dup DMD_d:c.358-?_649+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.358-?_831+?del DMD_d:c.358-?_831+?del LOVD deletion not within known transcription unit 0 DMD_d:c.358-?_960+?dup DMD_d:c.358-?_960+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3604-?_3786+?del DMD_d:c.3604-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3604-?_3786+?dup DMD_d:c.3604-?_3786+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3604-?_3921+?dup DMD_d:c.3604-?_3921+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3604-?_6290+?del DMD_d:c.3604-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3604-?_6438+?del DMD_d:c.3604-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3787-?_3921+?del DMD_d:c.3787-?_3921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3787-?_4071+?del DMD_d:c.3787-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3787-?_6290+?del DMD_d:c.3787-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3787-?_6438+?del DMD_d:c.3787-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3787-?_6762+?dup DMD_d:c.3787-?_6762+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3787-?_7200+?del DMD_d:c.3787-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3922-?_4071+?del DMD_d:c.3922-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3922-?_6290+?del DMD_d:c.3922-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.3922-?_6290+?dup DMD_d:c.3922-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.3922-?_7309+?del DMD_d:c.3922-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4072-?_4233+?del DMD_d:c.4072-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4072-?_4845+?del DMD_d:c.4072-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4072-?_6117+?del DMD_d:c.4072-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4072-?_6117+?dup DMD_d:c.4072-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4072-?_6290+?del DMD_d:c.4072-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4072-?_6290+?dup DMD_d:c.4072-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4072-?_6438+?dup DMD_d:c.4072-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4072-?_6912+?dup DMD_d:c.4072-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4072-?_7542+?del DMD_d:c.4072-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4072-?_8547+?del DMD_d:c.4072-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4234-?_6290+?del DMD_d:c.4234-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4234-?_6290+?dup DMD_d:c.4234-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4234-?_6438+?dup DMD_d:c.4234-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4234-?_6614+?dup DMD_d:c.4234-?_6614+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4234-?_8547+?del DMD_d:c.4234-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4345-?_4518+?del DMD_d:c.4345-?_4518+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4345-?_6290+?del DMD_d:c.4345-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4519-?_4845+?dup DMD_d:c.4519-?_4845+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4519-?_6290+?del DMD_d:c.4519-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4519-?_6438+?dup DMD_d:c.4519-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4675-?_4845+?del DMD_d:c.4675-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4675-?_5922+?dup DMD_d:c.4675-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4675-?_6290+?del DMD_d:c.4675-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4675_6290+?del DMD_d:c.4675_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4675_7542+?del DMD_d:c.4675_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4846-?_5025+?del DMD_d:c.4846-?_5025+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4846-?_6117+?del DMD_d:c.4846-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4846-?_6290+?del DMD_d:c.4846-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4846-?_6438+?del DMD_d:c.4846-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4846-?_6438+?dup DMD_d:c.4846-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4846-?_6614+?del DMD_d:c.4846-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.4846-?_7309+?dup DMD_d:c.4846-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.4846-?_8217+?dup DMD_d:c.4846-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5026-?_6290+?del DMD_d:c.5026-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5026-?_6438+?dup DMD_d:c.5026-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5026-?_6762+?del DMD_d:c.5026-?_6762+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5155-?_6290+?del DMD_d:c.5155-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5155-?_6290+?dup DMD_d:c.5155-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5155-?_6438+?del DMD_d:c.5155-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_1331+?del DMD_d:c.531-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_1482+?del DMD_d:c.531-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_1602+?del DMD_d:c.531-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_1812+?dup DMD_d:c.531-?_1812+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.531-?_2168+?del DMD_d:c.531-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_2292+?del DMD_d:c.531-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_2622+?del DMD_d:c.531-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_4674+?del DMD_d:c.531-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_649+?del DMD_d:c.531-?_649+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_649+?dup DMD_d:c.531-?_649+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.531-?_7200+?del DMD_d:c.531-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_831+?del DMD_d:c.531-?_831+?del LOVD deletion not within known transcription unit 0 DMD_d:c.531-?_960+?dup DMD_d:c.531-?_960+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5326-?_5448+?del DMD_d:c.5326-?_5448+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5326-?_5448+?dup DMD_d:c.5326-?_5448+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5326-?_6117+?del DMD_d:c.5326-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5326-?_6290+?del DMD_d:c.5326-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5326-?_6290+?dup DMD_d:c.5326-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5326-?_6438+?dup DMD_d:c.5326-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5326-?_6614+?dup DMD_d:c.5326-?_6614+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5326-?_8027+?del DMD_d:c.5326-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5449-?_5922+?dup DMD_d:c.5449-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5449-?_6290+?del DMD_d:c.5449-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5587-?_5739+?dup DMD_d:c.5587-?_5739+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5587-?_6117+?del DMD_d:c.5587-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5587-?_6290+?del DMD_d:c.5587-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5587-?_6438+?del DMD_d:c.5587-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5587-?_7309+?del DMD_d:c.5587-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5740-?_5922+?del DMD_d:c.5740-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5740-?_6290+?del DMD_d:c.5740-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5740-?_6438+?del DMD_d:c.5740-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5740-?_6438+?dup DMD_d:c.5740-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_6117+?del DMD_d:c.5923-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5923-?_6117+?dup DMD_d:c.5923-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_6290+?del DMD_d:c.5923-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5923-?_6290+?dup DMD_d:c.5923-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_6438+?del DMD_d:c.5923-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5923-?_6438+?dup DMD_d:c.5923-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_6614+?del DMD_d:c.5923-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.5923-?_6614+?dup DMD_d:c.5923-?_6614+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_6912+?dup DMD_d:c.5923-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_7098+?dup DMD_d:c.5923-?_7098+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_7309+?dup DMD_d:c.5923-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.5923-?_7660+?del DMD_d:c.5923-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6118-?_6290+?del DMD_d:c.6118-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6118-?_6290+?dup DMD_d:c.6118-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6118-?_6438+?del DMD_d:c.6118-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6118-?_6614+?del DMD_d:c.6118-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6118-?_6912+?dup DMD_d:c.6118-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6118-?_7309+?del DMD_d:c.6118-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6118-?_7542+?del DMD_d:c.6118-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6118-?_7542+?dup DMD_d:c.6118-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6118-?_7660+?del DMD_d:c.6118-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_6438+?del DMD_d:c.6291-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_6438+?dup DMD_d:c.6291-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_6614+?del DMD_d:c.6291-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_6762+?del DMD_d:c.6291-?_6762+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_6912+?del DMD_d:c.6291-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7098+?del DMD_d:c.6291-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7098+?dup DMD_d:c.6291-?_7098+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_7200+?del DMD_d:c.6291-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7200+?dup DMD_d:c.6291-?_7200+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_7309+?del DMD_d:c.6291-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7390+?dup DMD_d:c.6291-?_7390+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_7542+?del DMD_d:c.6291-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7542+?dup DMD_d:c.6291-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_7660+?del DMD_d:c.6291-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7660+?dup DMD_d:c.6291-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_7872+?del DMD_d:c.6291-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_7872+?dup DMD_d:c.6291-?_7872+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_8027+?del DMD_d:c.6291-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_8217+?del DMD_d:c.6291-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6291-?_8217+?dup DMD_d:c.6291-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_8547+?dup DMD_d:c.6291-?_8547+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_8937+?dup DMD_d:c.6291-?_8937+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6291-?_9084+?del DMD_d:c.6291-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6438+106397_6912+1296del DMD_d:c.6438+106397_6912+1296del LOVD deletion intron 1 DMD_d:c.6438+110849_6912+22729del DMD_d:c.6438+110849_6912+22729del LOVD deletion intron 1 DMD_d:c.6438+114317_6913-16580del DMD_d:c.6438+114317_6913-16580del LOVD deletion intron 1 DMD_d:c.6438+120826_7099-2485del DMD_d:c.6438+120826_7099-2485del LOVD deletion intron 1 DMD_d:c.6438+42430_6912+1938del DMD_d:c.6438+42430_6912+1938del LOVD deletion intron 1 DMD_d:c.6438+79733_6913-15338del DMD_d:c.6438+79733_6913-15338del LOVD deletion intron 1 DMD_d:c.6438+?_6439-?del DMD_d:c.6438+?_6439-?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-106504_6913-10498del DMD_d:c.6439-106504_6913-10498del LOVD deletion intron 1 DMD_d:c.6439-1155_7099-4947del DMD_d:c.6439-1155_7099-4947del LOVD deletion intron 1 DMD_d:c.6439-12611_7098+17524del DMD_d:c.6439-12611_7098+17524del LOVD deletion intron 1 DMD_d:c.6439-20966_6912+10755del DMD_d:c.6439-20966_6912+10755del LOVD deletion intron 1 DMD_d:c.6439-26031_7099-5216delinsTCAGTTC DMD_d:c.6439-26031_7099-5216delinsTCAGTTC LOVD complex intron 1 DMD_d:c.6439-26753_7310-63delinsCAAAT DMD_d:c.6439-26753_7310-63delinsCAAAT LOVD complex intron 1 DMD_d:c.6439-27542_7099-941delinsCA DMD_d:c.6439-27542_7099-941delinsCA LOVD complex intron 1 DMD_d:c.6439-38163_6912+4117delinsCCTATTTCCAAA DMD_d:c.6439-38163_6912+4117delinsCCTATTTCCAAA LOVD complex intron 1 DMD_d:c.6439-47294_6913-2289del DMD_d:c.6439-47294_6913-2289del LOVD deletion intron 1 DMD_d:c.6439-51754_6913-1366del DMD_d:c.6439-51754_6913-1366del LOVD deletion intron 1 DMD_d:c.6439-59229_7099-14411delinsGTTGA DMD_d:c.6439-59229_7099-14411delinsGTTGA LOVD complex intron 1 DMD_d:c.6439-65161_7099-14638del DMD_d:c.6439-65161_7099-14638del LOVD deletion intron 1 DMD_d:c.6439-65488_6913-9120delinsT DMD_d:c.6439-65488_6913-9120delinsT LOVD complex intron 1 DMD_d:c.6439-73691_7099-17854delinsGCAC DMD_d:c.6439-73691_7099-17854delinsGCAC LOVD complex intron 1 DMD_d:c.6439-?_6614+?del DMD_d:c.6439-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_6614+?dup DMD_d:c.6439-?_6614+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_6762+?del DMD_d:c.6439-?_6762+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_6912+?del DMD_d:c.6439-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_6912+?dup DMD_d:c.6439-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_7098+?del DMD_d:c.6439-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_7098+?dup DMD_d:c.6439-?_7098+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_7200+?del DMD_d:c.6439-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_7200+?dup DMD_d:c.6439-?_7200+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_7309+?del DMD_d:c.6439-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_7309+?dup DMD_d:c.6439-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_7542+?del DMD_d:c.6439-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_7542+?dup DMD_d:c.6439-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_7660+?del DMD_d:c.6439-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_7660+?dup DMD_d:c.6439-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_7872+?del DMD_d:c.6439-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_8027+?del DMD_d:c.6439-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_8217+?del DMD_d:c.6439-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_8217+?dup DMD_d:c.6439-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_8390+?del DMD_d:c.6439-?_8390+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_8547+?del DMD_d:c.6439-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_8937+?dup DMD_d:c.6439-?_8937+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_9084+?del DMD_d:c.6439-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6439-?_9163+?dup DMD_d:c.6439-?_9163+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_9224+?dup DMD_d:c.6439-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_9563+?dup DMD_d:c.6439-?_9563+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6439-?_9974+?del DMD_d:c.6439-?_9974+?del LOVD deletion not within known transcription unit 0 DMD_d:c.649+15289_3277-39del DMD_d:c.649+15289_3277-39del LOVD deletion intron 1 DMD_d:c.649+21364_2623-1945del DMD_d:c.649+21364_2623-1945del LOVD deletion intron 1 DMD_d:c.649+26342_1993-3367del DMD_d:c.649+26342_1993-3367del LOVD deletion intron 1 DMD_d:c.649+26362_961-16088dup DMD_d:c.649+26362_961-16088dup LOVD duplication intron 1 DMD_d:c.649+?_650-?del DMD_d:c.649+?_650-?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-2751_1812+394del DMD_d:c.650-2751_1812+394del LOVD deletion intron 1 DMD_d:c.650-35387_1332-8041delinsGGCA DMD_d:c.650-35387_1332-8041delinsGGCA LOVD complex intron 1 DMD_d:c.650-8720_961-10680delinsAA DMD_d:c.650-8720_961-10680delinsAA LOVD complex intron 1 DMD_d:c.650-?_1149+?del DMD_d:c.650-?_1149+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_1149+?dup DMD_d:c.650-?_1149+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_1331+?del DMD_d:c.650-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_1331+?dup DMD_d:c.650-?_1331+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_1482+?del DMD_d:c.650-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_1482+?dup DMD_d:c.650-?_1482+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_1602+?del DMD_d:c.650-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_1602+?dup DMD_d:c.650-?_1602+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_1812+?del DMD_d:c.650-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_1812+?dup DMD_d:c.650-?_1812+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_1992+?dup DMD_d:c.650-?_1992+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_1992+?del DMD_d:c.650-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_2168+?del DMD_d:c.650-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_2168+?dup DMD_d:c.650-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_2292+?del DMD_d:c.650-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_2292+?dup DMD_d:c.650-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_2380+?del DMD_d:c.650-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_2380+?dup DMD_d:c.650-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_2622+?del DMD_d:c.650-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_2803+?del DMD_d:c.650-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_2803+?dup DMD_d:c.650-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_2949+?del DMD_d:c.650-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_3162+?del DMD_d:c.650-?_3162+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_3162+?dup DMD_d:c.650-?_3162+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_3432+?del DMD_d:c.650-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_3786+?del DMD_d:c.650-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_3921+?del DMD_d:c.650-?_3921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_4071+?del DMD_d:c.650-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_4071+?dup DMD_d:c.650-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_4233+?del DMD_d:c.650-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_4233+?dup DMD_d:c.650-?_4233+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_4344+?del DMD_d:c.650-?_4344+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_4518+?del DMD_d:c.650-?_4518+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_4674+?del DMD_d:c.650-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_4845+?del DMD_d:c.650-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_5325+?del DMD_d:c.650-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_5586+?del DMD_d:c.650-?_5586+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_5922+?del DMD_d:c.650-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_6117+?del DMD_d:c.650-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_6290+?del DMD_d:c.650-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_6438+?del DMD_d:c.650-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_6438+?dup DMD_d:c.650-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_6614+?del DMD_d:c.650-?_6614+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_6912+?del DMD_d:c.650-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_7542+?del DMD_d:c.650-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_7660+?dup DMD_d:c.650-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_8217+?del DMD_d:c.650-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_831+?del DMD_d:c.650-?_831+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_831+?dup DMD_d:c.650-?_831+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.650-?_960+?del DMD_d:c.650-?_960+?del LOVD deletion not within known transcription unit 0 DMD_d:c.650-?_960+?dup DMD_d:c.650-?_960+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6614+14125_6763-810del DMD_d:c.6614+14125_6763-810del LOVD deletion intron 1 DMD_d:c.6615-?_6762+?del DMD_d:c.6615-?_6762+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_6762+?dup DMD_d:c.6615-?_6762+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_6912+?del DMD_d:c.6615-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_6912+?dup DMD_d:c.6615-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_6913+?dup DMD_d:c.6615-?_6913+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_7098+?del DMD_d:c.6615-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_7098+?dup DMD_d:c.6615-?_7098+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_7200+?del DMD_d:c.6615-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_7200+?dup DMD_d:c.6615-?_7200+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_7309+?del DMD_d:c.6615-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_7309+?dup DMD_d:c.6615-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_7542+?del DMD_d:c.6615-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_7542+?dup DMD_d:c.6615-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_7660+?del DMD_d:c.6615-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_7660+?dup DMD_d:c.6615-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_7872+?del DMD_d:c.6615-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_8027+?del DMD_d:c.6615-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_8217+?del DMD_d:c.6615-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_8217+?dup DMD_d:c.6615-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_8547+?dup DMD_d:c.6615-?_8547+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6615-?_8937+?del DMD_d:c.6615-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_9084+?del DMD_d:c.6615-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6615-?_9084+?dup DMD_d:c.6615-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6762+425_7099-11606del DMD_d:c.6762+425_7099-11606del LOVD deletion intron 1 DMD_d:c.6763-?_6912+?del DMD_d:c.6763-?_6912+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_6912+?dup DMD_d:c.6763-?_6912+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6763-?_7098+?del DMD_d:c.6763-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_7200+?del DMD_d:c.6763-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_7309+?del DMD_d:c.6763-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_7542+?del DMD_d:c.6763-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_7660+?del DMD_d:c.6763-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_7872+?del DMD_d:c.6763-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_8027+?del DMD_d:c.6763-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_8027+?dup DMD_d:c.6763-?_8027+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6763-?_8390+?del DMD_d:c.6763-?_8390+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6763-?_9084+?del DMD_d:c.6763-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6912+18156_7200+4736delinsTTCT DMD_d:c.6912+18156_7200+4736delinsTTCT LOVD complex intron 1 DMD_d:c.6912+19160_7201-1542del DMD_d:c.6912+19160_7201-1542del LOVD deletion intron 1 DMD_d:c.6912+25452_7098+10913delinsA DMD_d:c.6912+25452_7098+10913delinsA LOVD complex intron 1 DMD_d:c.6912+25607_7201-2830del DMD_d:c.6912+25607_7201-2830del LOVD deletion intron 1 DMD_d:c.6912+4228_7201-3042del DMD_d:c.6912+4228_7201-3042del LOVD deletion intron 1 DMD_d:c.6912+5682_7201-5740delinsCAGT DMD_d:c.6912+5682_7201-5740delinsCAGT LOVD complex intron 1 DMD_d:c.6912+7362_7201-975delins18 DMD_d:c.6912+7362_7201-975delins18 LOVD complex intron 1 DMD_d:c.6913-1072_7099-16450del DMD_d:c.6913-1072_7099-16450del LOVD deletion intron 1 DMD_d:c.6913-12708_7200+4640del DMD_d:c.6913-12708_7200+4640del LOVD deletion intron 1 DMD_d:c.6913-14601_7201-5987del DMD_d:c.6913-14601_7201-5987del LOVD deletion intron 1 DMD_d:c.6913-15315_7099-8770del DMD_d:c.6913-15315_7099-8770del LOVD deletion intron 1 DMD_d:c.6913-16065_7098+15476del DMD_d:c.6913-16065_7098+15476del LOVD deletion intron 1 DMD_d:c.6913-16304_7543-9903delinsT DMD_d:c.6913-16304_7543-9903delinsT LOVD complex intron 1 DMD_d:c.6913-1654_7098+154delins27 DMD_d:c.6913-1654_7098+154delins27 LOVD complex intron 1 DMD_d:c.6913-20333_7201-4433del DMD_d:c.6913-20333_7201-4433del LOVD deletion intron 1 DMD_d:c.6913-3947_7098+3412del DMD_d:c.6913-3947_7098+3412del LOVD deletion intron 1 DMD_d:c.6913-6024_7099-16008del DMD_d:c.6913-6024_7099-16008del LOVD deletion intron 1 DMD_d:c.6913-7550_7201-5291del DMD_d:c.6913-7550_7201-5291del LOVD deletion intron 1 DMD_d:c.6913-8478_7099-7731delins13 DMD_d:c.6913-8478_7099-7731delins13 LOVD complex intron 1 DMD_d:c.6913-8528_7099-1945delinsAGTGAGG DMD_d:c.6913-8528_7099-1945delinsAGTGAGG LOVD complex intron 1 DMD_d:c.6913-?_7098+?del DMD_d:c.6913-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_7098+?dup DMD_d:c.6913-?_7098+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6913-?_7200+?del DMD_d:c.6913-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_7200+?dup DMD_d:c.6913-?_7200+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6913-?_7309+?del DMD_d:c.6913-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_7309+?dup DMD_d:c.6913-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6913-?_7542+?del DMD_d:c.6913-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_7660+?del DMD_d:c.6913-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_7660+?dup DMD_d:c.6913-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6913-?_7872+?del DMD_d:c.6913-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_8027+?del DMD_d:c.6913-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_8217+?del DMD_d:c.6913-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_8547+?del DMD_d:c.6913-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_8668+?del DMD_d:c.6913-?_8668+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_8937+?del DMD_d:c.6913-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_9163+?del DMD_d:c.6913-?_9163+?del LOVD deletion not within known transcription unit 0 DMD_d:c.6913-?_9163+?dup DMD_d:c.6913-?_9163+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.6913-?_9287+?dup DMD_d:c.6913-?_9287+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7098+6307_7542+16881del DMD_d:c.7098+6307_7542+16881del LOVD deletion intron 1 DMD_d:c.7099-?_*2691+?del DMD_d:c.7099-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_7200+?del DMD_d:c.7099-?_7200+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_7309+?del DMD_d:c.7099-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_7309+?dup DMD_d:c.7099-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7099-?_7542+?del DMD_d:c.7099-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_7542+?dup DMD_d:c.7099-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7099-?_7660+?del DMD_d:c.7099-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_7872+?del DMD_d:c.7099-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_8027+?del DMD_d:c.7099-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_9084+?dup DMD_d:c.7099-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7099-?_9163+?del DMD_d:c.7099-?_9163+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7099-?_9224+?del DMD_d:c.7099-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7200+2037_7660+17389del DMD_d:c.7200+2037_7660+17389del LOVD deletion intron 1 DMD_d:c.7200+2327_7542+?del DMD_d:c.7200+2327_7542+?del LOVD deletion intron 0 DMD_d:c.7200+4818_7660+?dup DMD_d:c.7200+4818_7660+?dup LOVD duplication intron 0 DMD_d:c.7201-?_7309+?del DMD_d:c.7201-?_7309+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_7309+?dup DMD_d:c.7201-?_7309+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_7542+?del DMD_d:c.7201-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_7542+?dup DMD_d:c.7201-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_7660+?del DMD_d:c.7201-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_7660+?dup DMD_d:c.7201-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_7872+?del DMD_d:c.7201-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_8027+?del DMD_d:c.7201-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_8027+?dup DMD_d:c.7201-?_8027+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_8217+?del DMD_d:c.7201-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_8217+?dup DMD_d:c.7201-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_8668+?del DMD_d:c.7201-?_8668+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_8937+?del DMD_d:c.7201-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7201-?_8937+?dup DMD_d:c.7201-?_8937+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_9084+?dup DMD_d:c.7201-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_9164+?dup DMD_d:c.7201-?_9164+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7201-?_9224+?dup DMD_d:c.7201-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7309+19467_7543-4971del DMD_d:c.7309+19467_7543-4971del LOVD deletion intron 1 DMD_d:c.7309+?_7310-?dup DMD_d:c.7309+?_7310-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7310-?_10553+?del DMD_d:c.7310-?_10553+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_10921+?del DMD_d:c.7310-?_10921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_7542+?del DMD_d:c.7310-?_7542+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_7542+?dup DMD_d:c.7310-?_7542+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7310-?_7660+?del DMD_d:c.7310-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_7660+?dup DMD_d:c.7310-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7310-?_7872+?del DMD_d:c.7310-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_8027+?del DMD_d:c.7310-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_8217+?del DMD_d:c.7310-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_8217+?dup DMD_d:c.7310-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7310-?_8390+?del DMD_d:c.7310-?_8390+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_8547+?del DMD_d:c.7310-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_8547+?dup DMD_d:c.7310-?_8547+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7310-?_8937+?del DMD_d:c.7310-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_9084+?del DMD_d:c.7310-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7310-?_9084+?dup DMD_d:c.7310-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7310-?_9163+?dup DMD_d:c.7310-?_9163+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7543-?_7660+?del DMD_d:c.7543-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_7660+?dup DMD_d:c.7543-?_7660+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7543-?_7872+?del DMD_d:c.7543-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_8027+?del DMD_d:c.7543-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_8027+?dup DMD_d:c.7543-?_8027+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7543-?_8217+?del DMD_d:c.7543-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_8217+?dup DMD_d:c.7543-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7543-?_8390+?del DMD_d:c.7543-?_8390+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_8547+?del DMD_d:c.7543-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_8937+?del DMD_d:c.7543-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_9163+?dup DMD_d:c.7543-?_9163+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7543-?_9224+?del DMD_d:c.7543-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_9224+?dup DMD_d:c.7543-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7543-?_9286+?del DMD_d:c.7543-?_9286+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7543-?_9286+?dup DMD_d:c.7543-?_9286+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7661-?_7872+?del DMD_d:c.7661-?_7872+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_7872+?dup DMD_d:c.7661-?_7872+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7661-?_8027+?del DMD_d:c.7661-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_8027+?dup DMD_d:c.7661-?_8027+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7661-?_8217+?del DMD_d:c.7661-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_8217+?dup DMD_d:c.7661-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7661-?_8390+?del DMD_d:c.7661-?_8390+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_8547+?del DMD_d:c.7661-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_8547+?dup DMD_d:c.7661-?_8547+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7661-?_8937+?del DMD_d:c.7661-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_9084+?del DMD_d:c.7661-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7661-?_9084+?dup DMD_d:c.7661-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7661-?_9224+?del DMD_d:c.7661-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7873-?_8027+?del DMD_d:c.7873-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7873-?_8027+?dup DMD_d:c.7873-?_8027+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7873-?_8217+?del DMD_d:c.7873-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7873-?_8217+?dup DMD_d:c.7873-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7873-?_8547+?dup DMD_d:c.7873-?_8547+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.7873-?_9084+?del DMD_d:c.7873-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.7873-?_9224+?del DMD_d:c.7873-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8028-?_10921+?dup DMD_d:c.8028-?_10921+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8028-?_8217+?del DMD_d:c.8028-?_8217+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8028-?_8217+?dup DMD_d:c.8028-?_8217+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8028-?_8937+?del DMD_d:c.8028-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8028-?_8937+?dup DMD_d:c.8028-?_8937+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8028-?_9085+?dup DMD_d:c.8028-?_9085+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8028-?_9163+?del DMD_d:c.8028-?_9163+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8028-?_9286+?dup DMD_d:c.8028-?_9286+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8217+?_8218-?dup DMD_d:c.8217+?_8218-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_10262+?del DMD_d:c.8218-?_10262+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8218-?_10394+?dup DMD_d:c.8218-?_10394+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_10921+?del DMD_d:c.8218-?_10921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8218-?_11014+?dup DMD_d:c.8218-?_11014+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_11046+?dup DMD_d:c.8218-?_11046+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_11058+?del DMD_d:c.8218-?_11058+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8218-?_8390+?del DMD_d:c.8218-?_8390+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8218-?_8390+?dup DMD_d:c.8218-?_8390+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_8547+?dup DMD_d:c.8218-?_8547+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_9084+?dup DMD_d:c.8218-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_9163+?dup DMD_d:c.8218-?_9163+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_9224+?del DMD_d:c.8218-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8218-?_9224+?dup DMD_d:c.8218-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_9286+?dup DMD_d:c.8218-?_9286+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_9361+?dup DMD_d:c.8218-?_9361+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8218-?_9807+?dup DMD_d:c.8218-?_9807+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.832-?_1149+?del DMD_d:c.832-?_1149+?del LOVD deletion not within known transcription unit 0 DMD_d:c.832-?_1482+?del DMD_d:c.832-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.832-?_2292+?del DMD_d:c.832-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.832-?_2803+?del DMD_d:c.832-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.832-?_2949+?del DMD_d:c.832-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.832-?_3432+?del DMD_d:c.832-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.832-?_5922+?dup DMD_d:c.832-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.832-?_6438+?del DMD_d:c.832-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8391-?_8547+?del DMD_d:c.8391-?_8547+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8391-?_8937+?del DMD_d:c.8391-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8391-?_9084+?del DMD_d:c.8391-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8391-?_9084+?dup DMD_d:c.8391-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8548-?_8668+?del DMD_d:c.8548-?_8668+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8548-?_8937+?del DMD_d:c.8548-?_8937+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8548-?_8937+?dup DMD_d:c.8548-?_8937+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8548-?_9163+?del DMD_d:c.8548-?_9163+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8548-?_9224+?dup DMD_d:c.8548-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8548-?_9286+?dup DMD_d:c.8548-?_9286+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8938-?_9084+?del DMD_d:c.8938-?_9084+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8938-?_9084+?dup DMD_d:c.8938-?_9084+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8938-?_9224+?del DMD_d:c.8938-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.8938-?_9224+?dup DMD_d:c.8938-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.8938-?_9286+?del DMD_d:c.8938-?_9286+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_*2691+?del DMD_d:c.9085-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_10086+?del DMD_d:c.9085-?_10086+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_11014+?dup DMD_d:c.9085-?_11014+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9085-?_9163+?del DMD_d:c.9085-?_9163+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_9163+?dup DMD_d:c.9085-?_9163+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9085-?_9224+?del DMD_d:c.9085-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_9224+?dup DMD_d:c.9085-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9085-?_9286+?del DMD_d:c.9085-?_9286+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_9286+?dup DMD_d:c.9085-?_9286+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9085-?_9361+?del DMD_d:c.9085-?_9361+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_9361+?dup DMD_d:c.9085-?_9361+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9085-?_9563+?del DMD_d:c.9085-?_9563+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085-?_9807+?del DMD_d:c.9085-?_9807+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9085_9163del DMD_d:c.9085_9163del LOVD deletion exon 1 DMD_d:c.9164-?_10921+?del DMD_d:c.9164-?_10921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9164-?_9224+?del DMD_d:c.9164-?_9224+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9164-?_9224+?dup DMD_d:c.9164-?_9224+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9164-?_9286+?del DMD_d:c.9164-?_9286+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9224+?_9225-?dup DMD_d:c.9224+?_9225-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9225-?_*2691+?del DMD_d:c.9225-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9225-?_11046+?dup DMD_d:c.9225-?_11046+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9225-?_9286+?del DMD_d:c.9225-?_9286+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9225-?_9361+?del DMD_d:c.9225-?_9361+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9287-?_*2691+?dup DMD_d:c.9287-?_*2691+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9287-?_10262+?del DMD_d:c.9287-?_10262+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9287-?_9361+?del DMD_d:c.9287-?_9361+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9287-?_9361+?dup DMD_d:c.9287-?_9361+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9287-?_9563+?del DMD_d:c.9287-?_9563+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9287-?_9563+?dup DMD_d:c.9287-?_9563+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9287-?_9807+?del DMD_d:c.9287-?_9807+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9287-?_9807+?dup DMD_d:c.9287-?_9807+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.93+77102_650-41069del DMD_d:c.93+77102_650-41069del LOVD deletion intron 1 DMD_d:c.93+?_94-?del DMD_d:c.93+?_94-?del LOVD deletion not within known transcription unit 0 DMD_d:c.93+?_94-?dup DMD_d:c.93+?_94-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9362-?_*241dup DMD_d:c.9362-?_*241dup LOVD duplication not within known transcription unit 0 DMD_d:c.9362-?_*2691+?del DMD_d:c.9362-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9362-?_10553+?del DMD_d:c.9362-?_10553+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9362-?_10921+?del DMD_d:c.9362-?_10921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9362-?_9563+?del DMD_d:c.9362-?_9563+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9362-?_9807+?del DMD_d:c.9362-?_9807+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-25702_649+44558del DMD_d:c.94-25702_649+44558del LOVD deletion intron 1 DMD_d:c.94-?_1149+?dup DMD_d:c.94-?_1149+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_1331+?del DMD_d:c.94-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_1331+?dup DMD_d:c.94-?_1331+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_1482+?del DMD_d:c.94-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_1482+?dup DMD_d:c.94-?_1482+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_1602+?del DMD_d:c.94-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_1602+?dup DMD_d:c.94-?_1602+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_1812+?del DMD_d:c.94-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_1812+?dup DMD_d:c.94-?_1812+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_186+?del DMD_d:c.94-?_186+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_186+?dup DMD_d:c.94-?_186+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_187+?dup DMD_d:c.94-?_187+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_1992+?del DMD_d:c.94-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_1992+?dup DMD_d:c.94-?_1992+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_2168+?del DMD_d:c.94-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_2168+?dup DMD_d:c.94-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_2292+?del DMD_d:c.94-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_2292+?dup DMD_d:c.94-?_2292+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_2380+?del DMD_d:c.94-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_2380+?dup DMD_d:c.94-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_2622+?del DMD_d:c.94-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_2622+?dup DMD_d:c.94-?_2622+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_264+?del DMD_d:c.94-?_264+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_264+?dup DMD_d:c.94-?_264+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_2803+?del DMD_d:c.94-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_2803+?dup DMD_d:c.94-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_3162+?del DMD_d:c.94-?_3162+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_3276+?del DMD_d:c.94-?_3276+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_3432+?del DMD_d:c.94-?_3432+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_357+?del DMD_d:c.94-?_357+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_357+?dup DMD_d:c.94-?_357+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_3603+?del DMD_d:c.94-?_3603+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_3786+?del DMD_d:c.94-?_3786+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_402dup DMD_d:c.94-?_402dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_4071+?del DMD_d:c.94-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_4071+?dup DMD_d:c.94-?_4071+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_4233+?del DMD_d:c.94-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_4233+?dup DMD_d:c.94-?_4233+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_4344+?del DMD_d:c.94-?_4344+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_4518+?del DMD_d:c.94-?_4518+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_4674+?del DMD_d:c.94-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_4845+?del DMD_d:c.94-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_4845+?dup DMD_d:c.94-?_4845+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_5025+?del DMD_d:c.94-?_5025+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_5154+?del DMD_d:c.94-?_5154+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_5154+?dup DMD_d:c.94-?_5154+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_530+?del DMD_d:c.94-?_530+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_530+?dup DMD_d:c.94-?_530+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_5325+?del DMD_d:c.94-?_5325+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_5448+?del DMD_d:c.94-?_5448+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_5448+?dup DMD_d:c.94-?_5448+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_5922+?del DMD_d:c.94-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_5922+?dup DMD_d:c.94-?_5922+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_6117+?del DMD_d:c.94-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_6117+?dup DMD_d:c.94-?_6117+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_6290+?del DMD_d:c.94-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_6290+?dup DMD_d:c.94-?_6290+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_6438+?del DMD_d:c.94-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_6438+?dup DMD_d:c.94-?_6438+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_649+?del DMD_d:c.94-?_649+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_649+?dup DMD_d:c.94-?_649+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_6646+?del DMD_d:c.94-?_6646+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_7200+?dup DMD_d:c.94-?_7200+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_8027+?del DMD_d:c.94-?_8027+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_831+?del DMD_d:c.94-?_831+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_831+?dup DMD_d:c.94-?_831+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.94-?_960+?del DMD_d:c.94-?_960+?del LOVD deletion not within known transcription unit 0 DMD_d:c.94-?_960+?dup DMD_d:c.94-?_960+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.9564-?_*2691+?del DMD_d:c.9564-?_*2691+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9564-?_9807+?del DMD_d:c.9564-?_9807+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9564-?_9807+?dup DMD_d:c.9564-?_9807+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.960+?_961-?dup DMD_d:c.960+?_961-?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_1149+?del DMD_d:c.961-?_1149+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_1331+?del DMD_d:c.961-?_1331+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_1331+?dup DMD_d:c.961-?_1331+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_1482+?del DMD_d:c.961-?_1482+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_1602+?del DMD_d:c.961-?_1602+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_1812+?del DMD_d:c.961-?_1812+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_1992+?del DMD_d:c.961-?_1992+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_1992+?dup DMD_d:c.961-?_1992+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_2168+?del DMD_d:c.961-?_2168+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_2168+?dup DMD_d:c.961-?_2168+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_2292+?del DMD_d:c.961-?_2292+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_2380+?del DMD_d:c.961-?_2380+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_2380+?dup DMD_d:c.961-?_2380+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_2622+?del DMD_d:c.961-?_2622+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_2803+?del DMD_d:c.961-?_2803+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_2803+?dup DMD_d:c.961-?_2803+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_2949+?del DMD_d:c.961-?_2949+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_3921+?del DMD_d:c.961-?_3921+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_4071+?del DMD_d:c.961-?_4071+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_4233+?del DMD_d:c.961-?_4233+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_4674+?del DMD_d:c.961-?_4674+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_4845+?del DMD_d:c.961-?_4845+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_5325+?dup DMD_d:c.961-?_5325+?dup LOVD duplication not within known transcription unit 0 DMD_d:c.961-?_5448+?del DMD_d:c.961-?_5448+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_5586+?del DMD_d:c.961-?_5586+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_5922+?del DMD_d:c.961-?_5922+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_6117+?del DMD_d:c.961-?_6117+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_6290+?del DMD_d:c.961-?_6290+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_6438+?del DMD_d:c.961-?_6438+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_6762+?del DMD_d:c.961-?_6762+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_7098+?del DMD_d:c.961-?_7098+?del LOVD deletion not within known transcription unit 0 DMD_d:c.961-?_7660+?del DMD_d:c.961-?_7660+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9808-?_10394+?del DMD_d:c.9808-?_10394+?del LOVD deletion not within known transcription unit 0 DMD_d:c.9808-?_9974+?del DMD_d:c.9808-?_9974+?del LOVD deletion not within known transcription unit 0 DMD_d:c.[=,7099-?_7660+?del] DMD_d:c.[=,7099-?_7660+?del] LOVD deletion not within known transcription unit 0 DPM3:c.-113T>G DPM3:c.-113T>G LOVD substitution not within known transcription unit 1 DPM3:c.-143C>A DPM3:c.-143C>A LOVD substitution not within known transcription unit 1 DPM3:c.254T>C DPM3:c.254T>C LOVD substitution exon 1 DTNA:c.362C>T DTNA:c.362C>T LOVD substitution exon 1 DYSF:c.(1852G>A) DYSF:c.(1852G>A) LOVD substitution exon 1 DYSF:c.(2583A>G) DYSF:c.(2583A>G) LOVD substitution exon 1 DYSF:c.(3805G>T) DYSF:c.(3805G>T) LOVD substitution exon 1 DYSF:c.(6057delG) DYSF:c.(6057delG) LOVD deletion exon 1 DYSF:c.*107T>A DYSF:c.*107T>A LOVD substitution not within known transcription unit 1 DYSF:c.*53G>A DYSF:c.*53G>A LOVD substitution not within known transcription unit 1 DYSF:c.*95C>A DYSF:c.*95C>A LOVD substitution not within known transcription unit 1 DYSF:c.1004G>C DYSF:c.1004G>C LOVD substitution exon 1 DYSF:c.1016C>G DYSF:c.1016C>G LOVD substitution exon 1 DYSF:c.1020C>A DYSF:c.1020C>A LOVD substitution exon 1 DYSF:c.1020C>G DYSF:c.1020C>G LOVD substitution exon 1 DYSF:c.1053+54C>T DYSF:c.1053+54C>T LOVD substitution intron 1 DYSF:c.1053+5G>A DYSF:c.1053+5G>A LOVD substitution intron 1 DYSF:c.1054-43_1059delinsA DYSF:c.1054-43_1059delinsA LOVD complex intron 1 DYSF:c.1054C>A DYSF:c.1054C>A LOVD substitution exon 1 DYSF:c.105delC DYSF:c.105delC LOVD deletion exon 1 DYSF:c.1064_1065del DYSF:c.1064_1065del LOVD deletion exon 1 DYSF:c.107_108del DYSF:c.107_108del LOVD deletion exon 1 DYSF:c.1101C>A DYSF:c.1101C>A LOVD substitution exon 1 DYSF:c.1120G>C DYSF:c.1120G>C LOVD substitution exon 1 DYSF:c.1155C>A DYSF:c.1155C>A LOVD substitution exon 1 DYSF:c.1157_1168del DYSF:c.1157_1168del LOVD deletion exon 1 DYSF:c.115_125dup DYSF:c.115_125dup LOVD duplication exon 1 DYSF:c.1165G>C DYSF:c.1165G>C LOVD substitution exon 1 DYSF:c.1168G>A DYSF:c.1168G>A LOVD substitution exon 1 DYSF:c.1168_1180+1dup DYSF:c.1168_1180+1dup LOVD duplication not within known transcription unit 1 DYSF:c.1176G>A DYSF:c.1176G>A LOVD substitution exon 1 DYSF:c.1177C>T DYSF:c.1177C>T LOVD substitution exon 1 DYSF:c.1178_1180+4dup DYSF:c.1178_1180+4dup LOVD duplication not within known transcription unit 1 DYSF:c.1180+11C>T DYSF:c.1180+11C>T LOVD substitution intron 1 DYSF:c.1180+2T>C DYSF:c.1180+2T>C LOVD substitution intron 1 DYSF:c.1180+5G>A DYSF:c.1180+5G>A LOVD substitution intron 1 DYSF:c.1180_1180+7del DYSF:c.1180_1180+7del LOVD deletion not within known transcription unit 1 DYSF:c.1181-2A>C DYSF:c.1181-2A>C LOVD substitution intron 1 DYSF:c.1181-48A>G DYSF:c.1181-48A>G LOVD substitution intron 1 DYSF:c.1186G>C DYSF:c.1186G>C LOVD substitution exon 1 DYSF:c.1254delC DYSF:c.1254delC LOVD deletion exon 1 DYSF:c.1276G>A DYSF:c.1276G>A LOVD substitution exon 1 DYSF:c.1277G>T DYSF:c.1277G>T LOVD substitution exon 1 DYSF:c.1284+2T>C DYSF:c.1284+2T>C LOVD substitution intron 1 DYSF:c.1285-2A>G DYSF:c.1285-2A>G LOVD substitution intron 1 DYSF:c.1285-35G>T DYSF:c.1285-35G>T LOVD substitution intron 1 DYSF:c.1353+13C>T DYSF:c.1353+13C>T LOVD substitution intron 1 DYSF:c.1353+1G>A DYSF:c.1353+1G>A LOVD substitution intron 1 DYSF:c.1354-1G>A DYSF:c.1354-1G>A LOVD substitution intron 1 DYSF:c.1354-88A>G DYSF:c.1354-88A>G LOVD substitution intron 1 DYSF:c.1357C>T DYSF:c.1357C>T LOVD substitution exon 1 DYSF:c.1362C>T DYSF:c.1362C>T LOVD substitution exon 1 DYSF:c.1368C>A DYSF:c.1368C>A LOVD substitution exon 1 DYSF:c.1368C>G DYSF:c.1368C>G LOVD substitution exon 1 DYSF:c.1369G>A DYSF:c.1369G>A LOVD substitution exon 1 DYSF:c.1375dupA DYSF:c.1375dupA LOVD duplication exon 1 DYSF:c.1379_1381del DYSF:c.1379_1381del LOVD deletion exon 1 DYSF:c.1392dupA DYSF:c.1392dupA LOVD duplication exon 1 DYSF:c.1402C>T DYSF:c.1402C>T LOVD substitution exon 1 DYSF:c.1413delC DYSF:c.1413delC LOVD deletion exon 1 DYSF:c.144+46delG DYSF:c.144+46delG LOVD deletion intron 1 DYSF:c.1448C>A DYSF:c.1448C>A LOVD substitution exon 1 DYSF:c.1480+1delG DYSF:c.1480+1delG LOVD deletion intron 1 DYSF:c.1481-134A>G DYSF:c.1481-134A>G LOVD substitution intron 1 DYSF:c.1481-1G>A DYSF:c.1481-1G>A LOVD substitution intron 1 DYSF:c.1523-103G>A DYSF:c.1523-103G>A LOVD substitution intron 1 DYSF:c.154T>C DYSF:c.154T>C LOVD substitution exon 1 DYSF:c.1555G>A DYSF:c.1555G>A LOVD substitution exon 1 DYSF:c.1566C>G DYSF:c.1566C>G LOVD substitution exon 1 DYSF:c.1617C>G DYSF:c.1617C>G LOVD substitution exon 1 DYSF:c.1642delG DYSF:c.1642delG LOVD deletion exon 1 DYSF:c.164dupA DYSF:c.164dupA LOVD duplication exon 1 DYSF:c.1655_1668del DYSF:c.1655_1668del LOVD deletion exon 1 DYSF:c.1658G>A DYSF:c.1658G>A LOVD substitution exon 1 DYSF:c.1663C>T DYSF:c.1663C>T LOVD substitution exon 1 DYSF:c.1717G>T DYSF:c.1717G>T LOVD substitution exon 1 DYSF:c.1731G>A DYSF:c.1731G>A LOVD substitution exon 1 DYSF:c.1749_1750insT DYSF:c.1749_1750insT LOVD insertion exon 1 DYSF:c.1752+2T>A DYSF:c.1752+2T>A LOVD substitution intron 1 DYSF:c.1753-24C>G DYSF:c.1753-24C>G LOVD substitution intron 1 DYSF:c.1758C>A DYSF:c.1758C>A LOVD substitution exon 1 DYSF:c.1758C>G DYSF:c.1758C>G LOVD substitution exon 1 DYSF:c.175delC DYSF:c.175delC LOVD deletion exon 1 DYSF:c.1765delA DYSF:c.1765delA LOVD deletion exon 1 DYSF:c.1795_1799dup DYSF:c.1795_1799dup LOVD duplication exon 1 DYSF:c.1813C>T DYSF:c.1813C>T LOVD substitution exon 1 DYSF:c.1827T>C DYSF:c.1827T>C LOVD substitution exon 1 DYSF:c.1834C>T DYSF:c.1834C>T LOVD substitution exon 1 DYSF:c.1852G>A DYSF:c.1852G>A LOVD substitution exon 1 DYSF:c.1860C>T DYSF:c.1860C>T LOVD substitution exon 1 DYSF:c.1861G>A DYSF:c.1861G>A LOVD substitution exon 1 DYSF:c.1873G>T DYSF:c.1873G>T LOVD substitution exon 1 DYSF:c.1911C>A DYSF:c.1911C>A LOVD substitution exon 1 DYSF:c.1931-116T>C DYSF:c.1931-116T>C LOVD substitution intron 1 DYSF:c.1931-31C>A DYSF:c.1931-31C>A LOVD substitution intron 1 DYSF:c.1948delC DYSF:c.1948delC LOVD deletion exon 1 DYSF:c.1976dupT DYSF:c.1976dupT LOVD duplication exon 1 DYSF:c.1980G>A DYSF:c.1980G>A LOVD substitution exon 1 DYSF:c.1984_1994del DYSF:c.1984_1994del LOVD deletion exon 1 DYSF:c.200_201delinsAT DYSF:c.200_201delinsAT LOVD complex exon 1 DYSF:c.2055+105_2055+106del DYSF:c.2055+105_2055+106del LOVD deletion intron 1 DYSF:c.2055+16C>T DYSF:c.2055+16C>T LOVD substitution intron 1 DYSF:c.2055+1G>A DYSF:c.2055+1G>A LOVD substitution intron 1 DYSF:c.2055+50A>G DYSF:c.2055+50A>G LOVD substitution intron 1 DYSF:c.2056-331C>G DYSF:c.2056-331C>G LOVD substitution intron 1 DYSF:c.2056-853T>C DYSF:c.2056-853T>C LOVD substitution intron 1 DYSF:c.2073G>A DYSF:c.2073G>A LOVD substitution exon 1 DYSF:c.2077delC DYSF:c.2077delC LOVD deletion exon 1 DYSF:c.2113G>A DYSF:c.2113G>A LOVD substitution exon 1 DYSF:c.2162+16C>T DYSF:c.2162+16C>T LOVD substitution intron 1 DYSF:c.2163-1G>T DYSF:c.2163-1G>T LOVD substitution intron 1 DYSF:c.2192C>G DYSF:c.2192C>G LOVD substitution exon 1 DYSF:c.2200_2204del DYSF:c.2200_2204del LOVD deletion exon 1 DYSF:c.2217C>A DYSF:c.2217C>A LOVD substitution exon 1 DYSF:c.2283C>A DYSF:c.2283C>A LOVD substitution exon 1 DYSF:c.236+1G>T DYSF:c.236+1G>T LOVD substitution intron 1 DYSF:c.236+20G>A DYSF:c.236+20G>A LOVD substitution intron 1 DYSF:c.2367C>A DYSF:c.2367C>A LOVD substitution exon 1 DYSF:c.2372C>G DYSF:c.2372C>G LOVD substitution exon 1 DYSF:c.2393T>C DYSF:c.2393T>C LOVD substitution exon 1 DYSF:c.2452C>T DYSF:c.2452C>T LOVD substitution exon 1 DYSF:c.2456G>A DYSF:c.2456G>A LOVD substitution exon 1 DYSF:c.247delG DYSF:c.247delG LOVD deletion exon 1 DYSF:c.2494C>T DYSF:c.2494C>T LOVD substitution exon 1 DYSF:c.2497_2500del DYSF:c.2497_2500del LOVD deletion exon 1 DYSF:c.2500A>G DYSF:c.2500A>G LOVD substitution exon 1 DYSF:c.2511+1G>A DYSF:c.2511+1G>A LOVD substitution intron 1 DYSF:c.2512-?_3174+?del DYSF:c.2512-?_3174+?del LOVD deletion not within known transcription unit 0 DYSF:c.251C>T DYSF:c.251C>T LOVD substitution exon 1 DYSF:c.2547dupA DYSF:c.2547dupA LOVD duplication exon 1 DYSF:c.2582_2583del DYSF:c.2582_2583del LOVD deletion exon 1 DYSF:c.2583A>T DYSF:c.2583A>T LOVD substitution exon 1 DYSF:c.2641A>C DYSF:c.2641A>C LOVD substitution exon 1 DYSF:c.2643+1G>A DYSF:c.2643+1G>A LOVD substitution intron 1 DYSF:c.2643+2T>C DYSF:c.2643+2T>C LOVD substitution intron 1 DYSF:c.2643+2T>G DYSF:c.2643+2T>G LOVD substitution intron 1 DYSF:c.2644-2A>G DYSF:c.2644-2A>G LOVD substitution intron 1 DYSF:c.2659A>T DYSF:c.2659A>T LOVD substitution exon 1 DYSF:c.265C>T DYSF:c.265C>T LOVD substitution exon 1 DYSF:c.2706dupC DYSF:c.2706dupC LOVD duplication exon 1 DYSF:c.2779delG DYSF:c.2779delG LOVD deletion exon 1 DYSF:c.2790G>C DYSF:c.2790G>C LOVD substitution exon 1 DYSF:c.2802G>A DYSF:c.2802G>A LOVD substitution exon 1 DYSF:c.2810+1G>A DYSF:c.2810+1G>A LOVD substitution intron 1 DYSF:c.2810+1G>C DYSF:c.2810+1G>C LOVD substitution intron 1 DYSF:c.2813T>G DYSF:c.2813T>G LOVD substitution exon 1 DYSF:c.2837delA DYSF:c.2837delA LOVD deletion exon 1 DYSF:c.2858dupT DYSF:c.2858dupT LOVD duplication exon 1 DYSF:c.2875C>T DYSF:c.2875C>T LOVD substitution exon 1 DYSF:c.2894G>A DYSF:c.2894G>A LOVD substitution exon 1 DYSF:c.2901dupC DYSF:c.2901dupC LOVD duplication exon 1 DYSF:c.2902A>T DYSF:c.2902A>T LOVD substitution exon 1 DYSF:c.2974T>C DYSF:c.2974T>C LOVD substitution exon 1 DYSF:c.2975G>A DYSF:c.2975G>A LOVD substitution exon 1 DYSF:c.2996G>A DYSF:c.2996G>A LOVD substitution exon 1 DYSF:c.2997G>T DYSF:c.2997G>T LOVD substitution exon 1 DYSF:c.3028C>T DYSF:c.3028C>T LOVD substitution exon 1 DYSF:c.3031+2T>C DYSF:c.3031+2T>C LOVD substitution intron 1 DYSF:c.3031G>C DYSF:c.3031G>C LOVD substitution exon 1 DYSF:c.3032-16G>A DYSF:c.3032-16G>A LOVD substitution intron 1 DYSF:c.3032-17G>A DYSF:c.3032-17G>A LOVD substitution intron 1 DYSF:c.3035G>A DYSF:c.3035G>A LOVD substitution exon 1 DYSF:c.3041A>G DYSF:c.3041A>G LOVD substitution exon 1 DYSF:c.3059dupC DYSF:c.3059dupC LOVD duplication exon 1 DYSF:c.3061dupG DYSF:c.3061dupG LOVD duplication exon 1 DYSF:c.3065G>A DYSF:c.3065G>A LOVD substitution exon 1 DYSF:c.3073_3080dup DYSF:c.3073_3080dup LOVD duplication exon 1 DYSF:c.3086C>T DYSF:c.3086C>T LOVD substitution exon 1 DYSF:c.3112C>T DYSF:c.3112C>T LOVD substitution exon 1 DYSF:c.3113G>A DYSF:c.3113G>A LOVD substitution exon 1 DYSF:c.3115C>T DYSF:c.3115C>T LOVD substitution exon 1 DYSF:c.3116G>T DYSF:c.3116G>T LOVD substitution exon 1 DYSF:c.3121C>T DYSF:c.3121C>T LOVD substitution exon 1 DYSF:c.3126G>A DYSF:c.3126G>A LOVD substitution exon 1 DYSF:c.3130C>A DYSF:c.3130C>A LOVD substitution exon 1 DYSF:c.3137G>A DYSF:c.3137G>A LOVD substitution exon 1 DYSF:c.313dupC DYSF:c.313dupC LOVD duplication exon 1 DYSF:c.3149_3150del DYSF:c.3149_3150del LOVD deletion exon 1 DYSF:c.3175-31G>A DYSF:c.3175-31G>A LOVD substitution intron 1 DYSF:c.3175-61G>C DYSF:c.3175-61G>C LOVD substitution intron 1 DYSF:c.3179G>C DYSF:c.3179G>C LOVD substitution exon 1 DYSF:c.3181delC DYSF:c.3181delC LOVD deletion exon 1 DYSF:c.3191_3196dup DYSF:c.3191_3196dup LOVD duplication exon 1 DYSF:c.3225delT DYSF:c.3225delT LOVD deletion exon 1 DYSF:c.3307A>T DYSF:c.3307A>T LOVD substitution exon 1 DYSF:c.331C>T DYSF:c.331C>T LOVD substitution exon 1 DYSF:c.3321_3324dup DYSF:c.3321_3324dup LOVD duplication exon 1 DYSF:c.3348+3_3348+6del DYSF:c.3348+3_3348+6del LOVD deletion intron 1 DYSF:c.3349-2A>G DYSF:c.3349-2A>G LOVD substitution intron 1 DYSF:c.3349-54T>G DYSF:c.3349-54T>G LOVD substitution intron 1 DYSF:c.3373delG DYSF:c.3373delG LOVD deletion exon 1 DYSF:c.3389_3399dup DYSF:c.3389_3399dup LOVD duplication exon 1 DYSF:c.343-29A>G DYSF:c.343-29A>G LOVD substitution intron 1 DYSF:c.343-?_457+?del DYSF:c.343-?_457+?del LOVD deletion not within known transcription unit 0 DYSF:c.3442+14C>T DYSF:c.3442+14C>T LOVD substitution intron 1 DYSF:c.3442+4A>G DYSF:c.3442+4A>G LOVD substitution intron 1 DYSF:c.3443-33A>G DYSF:c.3443-33A>G LOVD substitution intron 1 DYSF:c.3444_3445delinsAA DYSF:c.3444_3445delinsAA LOVD complex exon 1 DYSF:c.3477C>A DYSF:c.3477C>A LOVD substitution exon 1 DYSF:c.3478C>T DYSF:c.3478C>T LOVD substitution exon 1 DYSF:c.3480G>A DYSF:c.3480G>A LOVD substitution exon 1 DYSF:c.3516_3517del DYSF:c.3516_3517del LOVD deletion exon 1 DYSF:c.3517dupT DYSF:c.3517dupT LOVD duplication exon 1 DYSF:c.3519dupT DYSF:c.3519dupT LOVD duplication exon 1 DYSF:c.3520+153A>T DYSF:c.3520+153A>T LOVD substitution intron 1 DYSF:c.3521-12C>T DYSF:c.3521-12C>T LOVD substitution intron 1 DYSF:c.3521-1732G>A DYSF:c.3521-1732G>A LOVD substitution intron 1 DYSF:c.3521-17C>T DYSF:c.3521-17C>T LOVD substitution intron 1 DYSF:c.353delT DYSF:c.353delT LOVD deletion exon 1 DYSF:c.3601_3607del DYSF:c.3601_3607del LOVD deletion exon 1 DYSF:c.3618C>G DYSF:c.3618C>G LOVD substitution exon 1 DYSF:c.3624C>G DYSF:c.3624C>G LOVD substitution exon 1 DYSF:c.3683T>C DYSF:c.3683T>C LOVD substitution exon 1 DYSF:c.3687C>A DYSF:c.3687C>A LOVD substitution exon 1 DYSF:c.3702+1G>A DYSF:c.3702+1G>A LOVD substitution intron 1 DYSF:c.3702+202T>C DYSF:c.3702+202T>C LOVD substitution intron 1 DYSF:c.3702+227C>T DYSF:c.3702+227C>T LOVD substitution intron 1 DYSF:c.3702T>C DYSF:c.3702T>C LOVD substitution exon 1 DYSF:c.3703-12C>T DYSF:c.3703-12C>T LOVD substitution intron 1 DYSF:c.3703-1G>A DYSF:c.3703-1G>A LOVD substitution intron 1 DYSF:c.3721G>C DYSF:c.3721G>C LOVD substitution exon 1 DYSF:c.3725G>A DYSF:c.3725G>A LOVD substitution exon 1 DYSF:c.3773delT DYSF:c.3773delT LOVD deletion exon 1 DYSF:c.3802G>A DYSF:c.3802G>A LOVD substitution exon 1 DYSF:c.3805G>T DYSF:c.3805G>T LOVD substitution exon 1 DYSF:c.3826C>G DYSF:c.3826C>G LOVD substitution exon 1 DYSF:c.3832C>T DYSF:c.3832C>T LOVD substitution exon 1 DYSF:c.383G>A DYSF:c.383G>A LOVD substitution exon 1 DYSF:c.3843+1G>A DYSF:c.3843+1G>A LOVD substitution intron 1 DYSF:c.3843+2T>A DYSF:c.3843+2T>A LOVD substitution intron 1 DYSF:c.3844-206A>T DYSF:c.3844-206A>T LOVD substitution intron 1 DYSF:c.3874-30delG DYSF:c.3874-30delG LOVD deletion intron 1 DYSF:c.3874-85G>T DYSF:c.3874-85G>T LOVD substitution intron 1 DYSF:c.3892A>G DYSF:c.3892A>G LOVD substitution exon 1 DYSF:c.3904-?_4333+?dup DYSF:c.3904-?_4333+?dup LOVD duplication not within known transcription unit 0 DYSF:c.393C>T DYSF:c.393C>T LOVD substitution exon 1 DYSF:c.3967C>T DYSF:c.3967C>T LOVD substitution exon 1 DYSF:c.3972C>T DYSF:c.3972C>T LOVD substitution exon 1 DYSF:c.3973A>G DYSF:c.3973A>G LOVD substitution exon 1 DYSF:c.3992G>T DYSF:c.3992G>T LOVD substitution exon 1 DYSF:c.4003G>A DYSF:c.4003G>A LOVD substitution exon 1 DYSF:c.4003G>T DYSF:c.4003G>T LOVD substitution exon 1 DYSF:c.4004A>G DYSF:c.4004A>G LOVD substitution exon 1 DYSF:c.4005+1G>A DYSF:c.4005+1G>A LOVD substitution intron 1 DYSF:c.4006-40C>T DYSF:c.4006-40C>T LOVD substitution intron 1 DYSF:c.4008C>A DYSF:c.4008C>A LOVD substitution exon 1 DYSF:c.4022T>C DYSF:c.4022T>C LOVD substitution exon 1 DYSF:c.4052A>G DYSF:c.4052A>G LOVD substitution exon 1 DYSF:c.4060_4062del DYSF:c.4060_4062del LOVD deletion exon 1 DYSF:c.4068C>T DYSF:c.4068C>T LOVD substitution exon 1 DYSF:c.407del DYSF:c.407del LOVD deletion exon 1 DYSF:c.4081T>C DYSF:c.4081T>C LOVD substitution exon 1 DYSF:c.4089C>T DYSF:c.4089C>T LOVD substitution exon 1 DYSF:c.4167+1G>C DYSF:c.4167+1G>C LOVD substitution intron 1 DYSF:c.4168-20G>A DYSF:c.4168-20G>A LOVD substitution intron 1 DYSF:c.4168-40A>G DYSF:c.4168-40A>G LOVD substitution intron 1 DYSF:c.4191C>G DYSF:c.4191C>G LOVD substitution exon 1 DYSF:c.4192_4193insC DYSF:c.4192_4193insC LOVD insertion exon 1 DYSF:c.4194C>A DYSF:c.4194C>A LOVD substitution exon 1 DYSF:c.4200delC DYSF:c.4200delC LOVD deletion exon 1 DYSF:c.4200dupC DYSF:c.4200dupC LOVD duplication exon 1 DYSF:c.4201dupA DYSF:c.4201dupA LOVD duplication exon 1 DYSF:c.4253G>A DYSF:c.4253G>A LOVD substitution exon 1 DYSF:c.4323G>A DYSF:c.4323G>A LOVD substitution exon 1 DYSF:c.4390G>T DYSF:c.4390G>T LOVD substitution exon 1 DYSF:c.4410+13T>G DYSF:c.4410+13T>G LOVD substitution intron 1 DYSF:c.4411-10202C>T DYSF:c.4411-10202C>T LOVD substitution intron 1 DYSF:c.4411-14413G>A DYSF:c.4411-14413G>A LOVD substitution intron 1 DYSF:c.4411-4253A>G DYSF:c.4411-4253A>G LOVD substitution intron 1 DYSF:c.4411-56A>G DYSF:c.4411-56A>G LOVD substitution intron 1 DYSF:c.4411-5C>G DYSF:c.4411-5C>G LOVD substitution intron 1 DYSF:c.4433G>A DYSF:c.4433G>A LOVD substitution exon 1 DYSF:c.4439A>C DYSF:c.4439A>C LOVD substitution exon 1 DYSF:c.4497delT DYSF:c.4497delT LOVD deletion exon 1 DYSF:c.4504C>T DYSF:c.4504C>T LOVD substitution exon 1 DYSF:c.4509+3843C>T DYSF:c.4509+3843C>T LOVD substitution intron 1 DYSF:c.4509+40C>T DYSF:c.4509+40C>T LOVD substitution intron 1 DYSF:c.4509+43A>G DYSF:c.4509+43A>G LOVD substitution intron 1 DYSF:c.4509+5295C>A DYSF:c.4509+5295C>A LOVD substitution intron 1 DYSF:c.4509+5675A>G DYSF:c.4509+5675A>G LOVD substitution intron 1 DYSF:c.4510-292A>G DYSF:c.4510-292A>G LOVD substitution intron 1 DYSF:c.4514A>G DYSF:c.4514A>G LOVD substitution exon 1 DYSF:c.457+17G>C DYSF:c.457+17G>C LOVD substitution intron 1 DYSF:c.457+1dupG DYSF:c.457+1dupG LOVD duplication intron 1 DYSF:c.457+2T>G DYSF:c.457+2T>G LOVD substitution intron 1 DYSF:c.4577A>C DYSF:c.4577A>C LOVD substitution exon 1 DYSF:c.4585C>T DYSF:c.4585C>T LOVD substitution exon 1 DYSF:c.4628G>A DYSF:c.4628G>A LOVD substitution exon 1 DYSF:c.4639-38G>A DYSF:c.4639-38G>A LOVD substitution intron 1 DYSF:c.4639G>C DYSF:c.4639G>C LOVD substitution exon 1 DYSF:c.463G>A DYSF:c.463G>A LOVD substitution exon 1 DYSF:c.4640G>A DYSF:c.4640G>A LOVD substitution exon 1 DYSF:c.4684dupA DYSF:c.4684dupA LOVD duplication exon 1 DYSF:c.4685dupT DYSF:c.4685dupT LOVD duplication exon 1 DYSF:c.4720G>T DYSF:c.4720G>T LOVD substitution exon 1 DYSF:c.4731G>A DYSF:c.4731G>A LOVD substitution exon 1 DYSF:c.4742G>A DYSF:c.4742G>A LOVD substitution exon 1 DYSF:c.4748_4750delinsT DYSF:c.4748_4750delinsT LOVD complex exon 1 DYSF:c.4754_4765del DYSF:c.4754_4765del LOVD deletion exon 1 DYSF:c.4756C>T DYSF:c.4756C>T LOVD substitution exon 1 DYSF:c.4794G>T DYSF:c.4794G>T LOVD substitution exon 1 DYSF:c.4795-1G>T DYSF:c.4795-1G>T LOVD substitution intron 1 DYSF:c.4795-630C>T DYSF:c.4795-630C>T LOVD substitution intron 1 DYSF:c.4820T>C DYSF:c.4820T>C LOVD substitution exon 1 DYSF:c.4867C>T DYSF:c.4867C>T LOVD substitution exon 1 DYSF:c.4872delG DYSF:c.4872delG LOVD deletion exon 1 DYSF:c.4872_4876delinsCCCC DYSF:c.4872_4876delinsCCCC LOVD complex exon 1 DYSF:c.4876delG DYSF:c.4876delG LOVD deletion exon 1 DYSF:c.4883G>T DYSF:c.4883G>T LOVD substitution exon 1 DYSF:c.4886+1320A>G DYSF:c.4886+1320A>G LOVD substitution intron 1 DYSF:c.4886+1375C>G DYSF:c.4886+1375C>G LOVD substitution intron 1 DYSF:c.4887-1083C>G DYSF:c.4887-1083C>G LOVD substitution intron 1 DYSF:c.4887-37C>T DYSF:c.4887-37C>T LOVD substitution intron 1 DYSF:c.490G>T DYSF:c.490G>T LOVD substitution exon 1 DYSF:c.4943A>G DYSF:c.4943A>G LOVD substitution exon 1 DYSF:c.4968_4972dup DYSF:c.4968_4972dup LOVD duplication exon 1 DYSF:c.4969G>A DYSF:c.4969G>A LOVD substitution exon 1 DYSF:c.4985C>G DYSF:c.4985C>G LOVD substitution exon 1 DYSF:c.5022delT DYSF:c.5022delT LOVD deletion exon 1 DYSF:c.5033G>A DYSF:c.5033G>A LOVD substitution exon 1 DYSF:c.5033G>C DYSF:c.5033G>C LOVD substitution exon 1 DYSF:c.5036G>A DYSF:c.5036G>A LOVD substitution exon 1 DYSF:c.5039_5057+4dup DYSF:c.5039_5057+4dup LOVD duplication not within known transcription unit 1 DYSF:c.504T>C DYSF:c.504T>C LOVD substitution exon 1 DYSF:c.5057+4_5057+5ins23 DYSF:c.5057+4_5057+5ins23 LOVD insertion intron 1 DYSF:c.5057+4_5057+5ins24 DYSF:c.5057+4_5057+5ins24 LOVD insertion intron 1 DYSF:c.5057+4_5057+6del DYSF:c.5057+4_5057+6del LOVD deletion intron 1 DYSF:c.5057+5G>A DYSF:c.5057+5G>A LOVD substitution intron 1 DYSF:c.5077C>T DYSF:c.5077C>T LOVD substitution exon 1 DYSF:c.5078G>A DYSF:c.5078G>A LOVD substitution exon 1 DYSF:c.509C>A DYSF:c.509C>A LOVD substitution exon 1 DYSF:c.5105T>C DYSF:c.5105T>C LOVD substitution exon 1 DYSF:c.5149C>T DYSF:c.5149C>T LOVD substitution exon 1 DYSF:c.5194G>C DYSF:c.5194G>C LOVD substitution exon 1 DYSF:c.5194G>T DYSF:c.5194G>T LOVD substitution exon 1 DYSF:c.5200+1G>A DYSF:c.5200+1G>A LOVD substitution intron 1 DYSF:c.5200G>T DYSF:c.5200G>T LOVD substitution exon 1 DYSF:c.5201A>G DYSF:c.5201A>G LOVD substitution exon 1 DYSF:c.5243A>T DYSF:c.5243A>T LOVD substitution exon 1 DYSF:c.526C>T DYSF:c.526C>T LOVD substitution exon 1 DYSF:c.5272C>T DYSF:c.5272C>T LOVD substitution exon 1 DYSF:c.5289G>C DYSF:c.5289G>C LOVD substitution exon 1 DYSF:c.5296G>T DYSF:c.5296G>T LOVD substitution exon 1 DYSF:c.5302C>T DYSF:c.5302C>T LOVD substitution exon 1 DYSF:c.5314_5318del DYSF:c.5314_5318del LOVD deletion exon 1 DYSF:c.5341-1G>A DYSF:c.5341-1G>A LOVD substitution intron 1 DYSF:c.539dupC DYSF:c.539dupC LOVD duplication exon 1 DYSF:c.5429G>A DYSF:c.5429G>A LOVD substitution exon 1 DYSF:c.5430-2A>G DYSF:c.5430-2A>G LOVD substitution intron 1 DYSF:c.5444G>T DYSF:c.5444G>T LOVD substitution exon 1 DYSF:c.544dupG DYSF:c.544dupG LOVD duplication exon 1 DYSF:c.5497G>T DYSF:c.5497G>T LOVD substitution exon 1 DYSF:c.5509G>A DYSF:c.5509G>A LOVD substitution exon 1 DYSF:c.5525+1G>A DYSF:c.5525+1G>A LOVD substitution intron 1 DYSF:c.5525+3A>G DYSF:c.5525+3A>G LOVD substitution intron 1 DYSF:c.5525G>A DYSF:c.5525G>A LOVD substitution exon 1 DYSF:c.5526-1G>A DYSF:c.5526-1G>A LOVD substitution intron 1 DYSF:c.5529G>A DYSF:c.5529G>A LOVD substitution exon 1 DYSF:c.5570A>G DYSF:c.5570A>G LOVD substitution exon 1 DYSF:c.5572delT DYSF:c.5572delT LOVD deletion exon 1 DYSF:c.5594delG DYSF:c.5594delG LOVD deletion exon 1 DYSF:c.5612G>A DYSF:c.5612G>A LOVD substitution exon 1 DYSF:c.5626G>A DYSF:c.5626G>A LOVD substitution exon 1 DYSF:c.565C>G DYSF:c.565C>G LOVD substitution exon 1 DYSF:c.5667+1075G>A DYSF:c.5667+1075G>A LOVD substitution intron 1 DYSF:c.5667+199A>G DYSF:c.5667+199A>G LOVD substitution intron 1 DYSF:c.5668-1319C>T DYSF:c.5668-1319C>T LOVD substitution intron 1 DYSF:c.5668-1881C>T DYSF:c.5668-1881C>T LOVD substitution intron 1 DYSF:c.5668-2147C>T DYSF:c.5668-2147C>T LOVD substitution intron 1 DYSF:c.5668-2222C>A DYSF:c.5668-2222C>A LOVD substitution intron 1 DYSF:c.5668-7G>A DYSF:c.5668-7G>A LOVD substitution intron 1 DYSF:c.5675delT DYSF:c.5675delT LOVD deletion exon 1 DYSF:c.5692A>G DYSF:c.5692A>G LOVD substitution exon 1 DYSF:c.5698_5699del DYSF:c.5698_5699del LOVD deletion exon 1 DYSF:c.5713C>T DYSF:c.5713C>T LOVD substitution exon 1 DYSF:c.5739T>G DYSF:c.5739T>G LOVD substitution exon 1 DYSF:c.5765T>C DYSF:c.5765T>C LOVD substitution exon 1 DYSF:c.5767+1G>A DYSF:c.5767+1G>A LOVD substitution intron 1 DYSF:c.5768-16T>C DYSF:c.5768-16T>C LOVD substitution intron 1 DYSF:c.5768-?_5946+?del DYSF:c.5768-?_5946+?del LOVD deletion not within known transcription unit 0 DYSF:c.5782_5785dup DYSF:c.5782_5785dup LOVD duplication exon 1 DYSF:c.5805delA DYSF:c.5805delA LOVD deletion exon 1 DYSF:c.5813_5821del DYSF:c.5813_5821del LOVD deletion exon 1 DYSF:c.5813_5821dup DYSF:c.5813_5821dup LOVD duplication exon 1 DYSF:c.5824T>G DYSF:c.5824T>G LOVD substitution exon 1 DYSF:c.5829C>A DYSF:c.5829C>A LOVD substitution exon 1 DYSF:c.5836_5839del DYSF:c.5836_5839del LOVD deletion exon 1 DYSF:c.5859A>C DYSF:c.5859A>C LOVD substitution exon 1 DYSF:c.5871_5872del DYSF:c.5871_5872del LOVD deletion exon 1 DYSF:c.5884C>T DYSF:c.5884C>T LOVD substitution exon 1 DYSF:c.5899G>A DYSF:c.5899G>A LOVD substitution exon 1 DYSF:c.5903G>A DYSF:c.5903G>A LOVD substitution exon 1 DYSF:c.5908C>T DYSF:c.5908C>T LOVD substitution exon 1 DYSF:c.591C>G DYSF:c.591C>G LOVD substitution exon 1 DYSF:c.593_594dup DYSF:c.593_594dup LOVD duplication exon 1 DYSF:c.5945delC DYSF:c.5945delC LOVD deletion exon 1 DYSF:c.5946+1G>A DYSF:c.5946+1G>A LOVD substitution intron 1 DYSF:c.5947-33G>A DYSF:c.5947-33G>A LOVD substitution intron 1 DYSF:c.5979dupA DYSF:c.5979dupA LOVD duplication exon 1 DYSF:c.5999G>A DYSF:c.5999G>A LOVD substitution exon 1 DYSF:c.6008G>T DYSF:c.6008G>T LOVD substitution exon 1 DYSF:c.6057-83T>A DYSF:c.6057-83T>A LOVD substitution intron 1 DYSF:c.6063C>T DYSF:c.6063C>T LOVD substitution exon 1 DYSF:c.610C>T DYSF:c.610C>T LOVD substitution exon 1 DYSF:c.6119G>A DYSF:c.6119G>A LOVD substitution exon 1 DYSF:c.6124C>T DYSF:c.6124C>T LOVD substitution exon 1 DYSF:c.6154_6165dup DYSF:c.6154_6165dup LOVD duplication exon 1 DYSF:c.6203C>T DYSF:c.6203C>T LOVD substitution exon 1 DYSF:c.6204+15C>T DYSF:c.6204+15C>T LOVD substitution intron 1 DYSF:c.6204-?_*271+?del DYSF:c.6204-?_*271+?del LOVD deletion not within known transcription unit 0 DYSF:c.6217A>G DYSF:c.6217A>G LOVD substitution exon 1 DYSF:c.663+1G>C DYSF:c.663+1G>C LOVD substitution intron 1 DYSF:c.664-17C>T DYSF:c.664-17C>T LOVD substitution intron 1 DYSF:c.664-7_669del DYSF:c.664-7_669del LOVD deletion intron 1 DYSF:c.691C>T DYSF:c.691C>T LOVD substitution exon 1 DYSF:c.701G>A DYSF:c.701G>A LOVD substitution exon 1 DYSF:c.757C>T DYSF:c.757C>T LOVD substitution exon 1 DYSF:c.763delC DYSF:c.763delC LOVD deletion exon 1 DYSF:c.792+11T>C DYSF:c.792+11T>C LOVD substitution intron 1 DYSF:c.793-34C>T DYSF:c.793-34C>T LOVD substitution intron 1 DYSF:c.793-68G>A DYSF:c.793-68G>A LOVD substitution intron 1 DYSF:c.796_797del DYSF:c.796_797del LOVD deletion exon 1 DYSF:c.797T>C DYSF:c.797T>C LOVD substitution exon 1 DYSF:c.799_800del DYSF:c.799_800del LOVD deletion exon 1 DYSF:c.827delA DYSF:c.827delA LOVD deletion exon 1 DYSF:c.851T>C DYSF:c.851T>C LOVD substitution exon 1 DYSF:c.855+1delG DYSF:c.855+1delG LOVD deletion intron 1 DYSF:c.855+4T>C DYSF:c.855+4T>C LOVD substitution intron 1 DYSF:c.857T>A DYSF:c.857T>A LOVD substitution exon 1 DYSF:c.863dupA DYSF:c.863dupA LOVD duplication exon 1 DYSF:c.879_883dup DYSF:c.879_883dup LOVD duplication exon 1 DYSF:c.88+12629G>A DYSF:c.88+12629G>A LOVD substitution intron 1 DYSF:c.88+12727G>A DYSF:c.88+12727G>A LOVD substitution intron 1 DYSF:c.89-29C>G DYSF:c.89-29C>G LOVD substitution intron 1 DYSF:c.89-3T>C DYSF:c.89-3T>C LOVD substitution intron 1 DYSF:c.89-643_4410-2493del DYSF:c.89-643_4410-2493del LOVD deletion intron 1 DYSF:c.895G>A DYSF:c.895G>A LOVD substitution exon 1 DYSF:c.895G>C DYSF:c.895G>C LOVD substitution exon 1 DYSF:c.895G>T DYSF:c.895G>T LOVD substitution exon 1 DYSF:c.896G>A DYSF:c.896G>A LOVD substitution exon 1 DYSF:c.927C>G DYSF:c.927C>G LOVD substitution exon 1 DYSF:c.937+1G>A DYSF:c.937+1G>A LOVD substitution intron 1 DYSF:c.937+43delT DYSF:c.937+43delT LOVD deletion intron 1 DYSF:c.938-20G>A DYSF:c.938-20G>A LOVD substitution intron 1 DYSF:c.938-34T>A DYSF:c.938-34T>A LOVD substitution intron 1 DYSF:c.938-64C>T DYSF:c.938-64C>T LOVD substitution intron 1 DYSF:c.938-68T>C DYSF:c.938-68T>C LOVD substitution intron 1 DYSF:c.942C>T DYSF:c.942C>T LOVD substitution exon 1 EMD:BX936346.4:g.15589_35869del EMD:BX936346.4:g.15589_35869del LOVD deletion not within known transcription unit 1 EMD:c.*59G>C EMD:c.*59G>C LOVD substitution not within known transcription unit 1 EMD:c.*60C>T EMD:c.*60C>T LOVD substitution not within known transcription unit 1 EMD:c.-139_-118del EMD:c.-139_-118del LOVD deletion not within known transcription unit 1 EMD:c.100delT EMD:c.100delT LOVD deletion exon 1 EMD:c.102C>G EMD:c.102C>G LOVD substitution exon 1 EMD:c.106A>T EMD:c.106A>T LOVD substitution exon 1 EMD:c.123C>G EMD:c.123C>G LOVD substitution exon 1 EMD:c.130C>T EMD:c.130C>T LOVD substitution exon 1 EMD:c.138_163del EMD:c.138_163del LOVD deletion exon 1 EMD:c.139_140dup EMD:c.139_140dup LOVD duplication exon 1 EMD:c.153delC EMD:c.153delC LOVD deletion exon 1 EMD:c.161C>T EMD:c.161C>T LOVD substitution exon 1 EMD:c.165delC EMD:c.165delC LOVD deletion exon 1 EMD:c.174_175del EMD:c.174_175del LOVD deletion exon 1 EMD:c.177T>A EMD:c.177T>A LOVD substitution exon 1 EMD:c.178dupA EMD:c.178dupA LOVD duplication exon 1 EMD:c.184dupT EMD:c.184dupT LOVD duplication exon 1 EMD:c.186dupT EMD:c.186dupT LOVD duplication exon 1 EMD:c.187+1G>A EMD:c.187+1G>A LOVD substitution intron 1 EMD:c.1A>G EMD:c.1A>G LOVD substitution exon 1 EMD:c.215A>T EMD:c.215A>T LOVD substitution exon 1 EMD:c.221_222del EMD:c.221_222del LOVD deletion exon 1 EMD:c.239_240del EMD:c.239_240del LOVD deletion exon 1 EMD:c.251_255del EMD:c.251_255del LOVD deletion exon 1 EMD:c.256C>T EMD:c.256C>T LOVD substitution exon 1 EMD:c.266-1G>C EMD:c.266-1G>C LOVD substitution intron 1 EMD:c.266-27_266-10del EMD:c.266-27_266-10del LOVD deletion intron 1 EMD:c.266-2A>G EMD:c.266-2A>G LOVD substitution intron 1 EMD:c.266-3A>G EMD:c.266-3A>G LOVD substitution intron 1 EMD:c.266-?_*325+?del EMD:c.266-?_*325+?del LOVD deletion not within known transcription unit 0 EMD:c.282C>G EMD:c.282C>G LOVD substitution exon 1 EMD:c.284_298del EMD:c.284_298del LOVD deletion exon 1 EMD:c.2T>C EMD:c.2T>C LOVD substitution exon 1 EMD:c.2T>G EMD:c.2T>G LOVD substitution exon 1 EMD:c.301dupA EMD:c.301dupA LOVD duplication exon 1 EMD:c.314_315del EMD:c.314_315del LOVD deletion exon 1 EMD:c.315T>G EMD:c.315T>G LOVD substitution exon 1 EMD:c.31delG EMD:c.31delG LOVD deletion exon 1 EMD:c.325G>T EMD:c.325G>T LOVD substitution exon 1 EMD:c.356dupA EMD:c.356dupA LOVD duplication exon 1 EMD:c.358delT EMD:c.358delT LOVD deletion exon 1 EMD:c.359_362del EMD:c.359_362del LOVD deletion exon 1 EMD:c.397C>T EMD:c.397C>T LOVD substitution exon 1 EMD:c.399+1G>A EMD:c.399+1G>A LOVD substitution intron 1 EMD:c.399+1G>C EMD:c.399+1G>C LOVD substitution intron 1 EMD:c.399G>T EMD:c.399G>T LOVD substitution exon 1 EMD:c.3G>A EMD:c.3G>A LOVD substitution exon 1 EMD:c.3_31del EMD:c.3_31del LOVD deletion exon 1 EMD:c.430G>T EMD:c.430G>T LOVD substitution exon 1 EMD:c.436G>T EMD:c.436G>T LOVD substitution exon 1 EMD:c.441C>A EMD:c.441C>A LOVD substitution exon 1 EMD:c.445G>C EMD:c.445G>C LOVD substitution exon 1 EMD:c.449+1G>A EMD:c.449+1G>A LOVD substitution intron 1 EMD:c.449+1G>T EMD:c.449+1G>T LOVD substitution intron 1 EMD:c.450-2A>G EMD:c.450-2A>G LOVD substitution intron 1 EMD:c.461_474delinsG EMD:c.461_474delinsG LOVD complex exon 1 EMD:c.469delC EMD:c.469delC LOVD deletion exon 1 EMD:c.472delG EMD:c.472delG LOVD deletion exon 1 EMD:c.506_507del EMD:c.506_507del LOVD deletion exon 1 EMD:c.511_512insTA EMD:c.511_512insTA LOVD insertion exon 1 EMD:c.512C>A EMD:c.512C>A LOVD substitution exon 1 EMD:c.543T>G EMD:c.543T>G LOVD substitution exon 1 EMD:c.546T>A EMD:c.546T>A LOVD substitution exon 1 EMD:c.547C>A EMD:c.547C>A LOVD substitution exon 1 EMD:c.548C>A EMD:c.548C>A LOVD substitution exon 1 EMD:c.566_570del EMD:c.566_570del LOVD deletion exon 1 EMD:c.57C>G EMD:c.57C>G LOVD substitution exon 1 EMD:c.600G>A EMD:c.600G>A LOVD substitution exon 1 EMD:c.601_611del EMD:c.601_611del LOVD deletion exon 1 EMD:c.608G>A EMD:c.608G>A LOVD substitution exon 1 EMD:c.615delC EMD:c.615delC LOVD deletion exon 1 EMD:c.617_620del EMD:c.617_620del LOVD deletion exon 1 EMD:c.619delC EMD:c.619delC LOVD deletion exon 1 EMD:c.621delG EMD:c.621delG LOVD deletion exon 1 EMD:c.623_730del EMD:c.623_730del LOVD deletion exon 1 EMD:c.649_650ins33 EMD:c.649_650ins33 LOVD insertion exon 1 EMD:c.650_654dup EMD:c.650_654dup LOVD duplication exon 1 EMD:c.654_658dup EMD:c.654_658dup LOVD duplication exon 1 EMD:c.655C>T EMD:c.655C>T LOVD substitution exon 1 EMD:c.662_663ins36 EMD:c.662_663ins36 LOVD insertion exon 1 EMD:c.674_678del EMD:c.674_678del LOVD deletion exon 1 EMD:c.677G>A EMD:c.677G>A LOVD substitution exon 1 EMD:c.682C>T EMD:c.682C>T LOVD substitution exon 1 EMD:c.684G>T EMD:c.684G>T LOVD substitution exon 1 EMD:c.705_722del EMD:c.705_722del LOVD deletion exon 1 EMD:c.717_721del EMD:c.717_721del LOVD deletion exon 1 EMD:c.740_743del EMD:c.740_743del LOVD deletion exon 1 EMD:c.759delC EMD:c.759delC LOVD deletion exon 1 EMD:c.7_188-23delins103 EMD:c.7_188-23delins103 LOVD complex not within known transcription unit 1 EMD:c.82+1delG EMD:c.82+1delG LOVD deletion intron 1 EMD:c.82+1G>T EMD:c.82+1G>T LOVD substitution intron 1 EMD:c.82+5G>C EMD:c.82+5G>C LOVD substitution intron 1 EMD:c.82+6_82+7insCG EMD:c.82+6_82+7insCG LOVD insertion intron 1 EMD:c.83-2A>C EMD:c.83-2A>C LOVD substitution intron 1 EMD:c.83-4_83del EMD:c.83-4_83del LOVD deletion intron 1 EMD:c.96_155del EMD:c.96_155del LOVD deletion exon 1 EMD:c.99_157del EMD:c.99_157del LOVD deletion exon 1 FHL1:c.*45dupT FHL1:c.*45dupT LOVD duplication not within known transcription unit 1 FHL1:c.*51G>A FHL1:c.*51G>A LOVD substitution not within known transcription unit 1 FHL1:c.*55G>A FHL1:c.*55G>A LOVD substitution not within known transcription unit 1 FHL1:c.*69T>G FHL1:c.*69T>G LOVD substitution not within known transcription unit 1 FHL1:c.302G>T FHL1:c.302G>T LOVD substitution exon 1 FHL1:c.304_312del FHL1:c.304_312del LOVD deletion exon 1 FHL1:c.310T>C FHL1:c.310T>C LOVD substitution exon 1 FHL1:c.332-?_688+?del FHL1:c.332-?_688+?del LOVD deletion not within known transcription unit 0 FHL1:c.365G>C FHL1:c.365G>C LOVD substitution exon 1 FHL1:c.367C>T FHL1:c.367C>T LOVD substitution exon 1 FHL1:c.371_372delAA FHL1:c.371_372delAA LOVD deletion exon 1 FHL1:c.380_382dup FHL1:c.380_382dup LOVD duplication exon 1 FHL1:c.395G>T FHL1:c.395G>T LOVD substitution exon 1 FHL1:c.441C>T FHL1:c.441C>T LOVD substitution exon 1 FHL1:c.449G>A FHL1:c.449G>A LOVD substitution exon 1 FHL1:c.457T>C FHL1:c.457T>C LOVD substitution exon 1 FHL1:c.458G>A FHL1:c.458G>A LOVD substitution exon 1 FHL1:c.469_470del FHL1:c.469_470del LOVD deletion exon 1 FHL1:c.625T>C FHL1:c.625T>C LOVD substitution exon 1 FHL1:c.672C>G FHL1:c.672C>G LOVD substitution exon 1 FKRP:c.(341C>G) FKRP:c.(341C>G) LOVD substitution exon 1 FKRP:c.-190-84C>T FKRP:c.-190-84C>T LOVD substitution not within known transcription unit 1 FKRP:c.-34C>T FKRP:c.-34C>T LOVD substitution not within known transcription unit 1 FKRP:c.-44C>T FKRP:c.-44C>T LOVD substitution not within known transcription unit 1 FKRP:c.-621C>G FKRP:c.-621C>G LOVD substitution not within known transcription unit 1 FKRP:c.1003G>A FKRP:c.1003G>A LOVD substitution exon 1 FKRP:c.1006_1174del FKRP:c.1006_1174del LOVD deletion exon 1 FKRP:c.1012G>A FKRP:c.1012G>A LOVD substitution exon 1 FKRP:c.1016G>A FKRP:c.1016G>A LOVD substitution exon 1 FKRP:c.1016G>T FKRP:c.1016G>T LOVD substitution exon 1 FKRP:c.1021T>C FKRP:c.1021T>C LOVD substitution exon 1 FKRP:c.1023G>A FKRP:c.1023G>A LOVD substitution exon 1 FKRP:c.1033_1052del FKRP:c.1033_1052del LOVD deletion exon 1 FKRP:c.1034G>C FKRP:c.1034G>C LOVD substitution exon 1 FKRP:c.1050_*1027delinsTCAA FKRP:c.1050_*1027delinsTCAA LOVD complex not within known transcription unit 1 FKRP:c.1054C>G FKRP:c.1054C>G LOVD substitution exon 1 FKRP:c.1073C>T FKRP:c.1073C>T LOVD substitution exon 1 FKRP:c.1078G>A FKRP:c.1078G>A LOVD substitution exon 1 FKRP:c.1078G>C FKRP:c.1078G>C LOVD substitution exon 1 FKRP:c.1087G>T FKRP:c.1087G>T LOVD substitution exon 1 FKRP:c.1088T>G FKRP:c.1088T>G LOVD substitution exon 1 FKRP:c.1117G>A FKRP:c.1117G>A LOVD substitution exon 1 FKRP:c.1141delG FKRP:c.1141delG LOVD deletion exon 1 FKRP:c.1141dupG FKRP:c.1141dupG LOVD duplication exon 1 FKRP:c.1154C>A FKRP:c.1154C>A LOVD substitution exon 1 FKRP:c.1164T>C FKRP:c.1164T>C LOVD substitution exon 1 FKRP:c.1170_1171del FKRP:c.1170_1171del LOVD deletion exon 1 FKRP:c.1171G>A FKRP:c.1171G>A LOVD substitution exon 1 FKRP:c.1171G>C FKRP:c.1171G>C LOVD substitution exon 1 FKRP:c.1187dupA FKRP:c.1187dupA LOVD duplication exon 1 FKRP:c.1188G>A FKRP:c.1188G>A LOVD substitution exon 1 FKRP:c.1201G>A FKRP:c.1201G>A LOVD substitution exon 1 FKRP:c.1210C>T FKRP:c.1210C>T LOVD substitution exon 1 FKRP:c.1213G>T FKRP:c.1213G>T LOVD substitution exon 1 FKRP:c.1216C>T FKRP:c.1216C>T LOVD substitution exon 1 FKRP:c.1219T>G FKRP:c.1219T>G LOVD substitution exon 1 FKRP:c.1224C>T FKRP:c.1224C>T LOVD substitution exon 1 FKRP:c.1234dupC FKRP:c.1234dupC LOVD duplication exon 1 FKRP:c.1242C>T FKRP:c.1242C>T LOVD substitution exon 1 FKRP:c.1253G>A FKRP:c.1253G>A LOVD substitution exon 1 FKRP:c.1270_1271insT FKRP:c.1270_1271insT LOVD insertion exon 1 FKRP:c.1314T>G FKRP:c.1314T>G LOVD substitution exon 1 FKRP:c.1318G>T FKRP:c.1318G>T LOVD substitution exon 1 FKRP:c.1325C>T FKRP:c.1325C>T LOVD substitution exon 1 FKRP:c.1341G>A FKRP:c.1341G>A LOVD substitution exon 1 FKRP:c.1343C>T FKRP:c.1343C>T LOVD substitution exon 1 FKRP:c.135C>T FKRP:c.135C>T LOVD substitution exon 1 FKRP:c.1364C>A FKRP:c.1364C>A LOVD substitution exon 1 FKRP:c.1378C>T FKRP:c.1378C>T LOVD substitution exon 1 FKRP:c.1384C>T FKRP:c.1384C>T LOVD substitution exon 1 FKRP:c.1387A>G FKRP:c.1387A>G LOVD substitution exon 1 FKRP:c.1394A>C FKRP:c.1394A>C LOVD substitution exon 1 FKRP:c.1405C>T FKRP:c.1405C>T LOVD substitution exon 1 FKRP:c.1415A>C FKRP:c.1415A>C LOVD substitution exon 1 FKRP:c.1433T>C FKRP:c.1433T>C LOVD substitution exon 1 FKRP:c.1475delC FKRP:c.1475delC LOVD deletion exon 1 FKRP:c.1486T>A FKRP:c.1486T>A LOVD substitution exon 1 FKRP:c.154_158dup FKRP:c.154_158dup LOVD duplication exon 1 FKRP:c.155T>A FKRP:c.155T>A LOVD substitution exon 1 FKRP:c.158_162dup FKRP:c.158_162dup LOVD duplication exon 1 FKRP:c.160C>T FKRP:c.160C>T LOVD substitution exon 1 FKRP:c.162_165dup FKRP:c.162_165dup LOVD duplication exon 1 FKRP:c.163G>C FKRP:c.163G>C LOVD substitution exon 1 FKRP:c.192C>T FKRP:c.192C>T LOVD substitution exon 1 FKRP:c.1A>G FKRP:c.1A>G LOVD substitution exon 1 FKRP:c.201A>G FKRP:c.201A>G LOVD substitution exon 1 FKRP:c.206C>A FKRP:c.206C>A LOVD substitution exon 1 FKRP:c.211C>G FKRP:c.211C>G LOVD substitution exon 1 FKRP:c.214C>T FKRP:c.214C>T LOVD substitution exon 1 FKRP:c.235G>A FKRP:c.235G>A LOVD substitution exon 1 FKRP:c.242_244del FKRP:c.242_244del LOVD deletion exon 1 FKRP:c.249C>T FKRP:c.249C>T LOVD substitution exon 1 FKRP:c.265C>G FKRP:c.265C>G LOVD substitution exon 1 FKRP:c.266C>G FKRP:c.266C>G LOVD substitution exon 1 FKRP:c.266C>T FKRP:c.266C>T LOVD substitution exon 1 FKRP:c.275C>G FKRP:c.275C>G LOVD substitution exon 1 FKRP:c.278T>C FKRP:c.278T>C LOVD substitution exon 1 FKRP:c.280C>T FKRP:c.280C>T LOVD substitution exon 1 FKRP:c.283C>T FKRP:c.283C>T LOVD substitution exon 1 FKRP:c.313C>T FKRP:c.313C>T LOVD substitution exon 1 FKRP:c.328C>T FKRP:c.328C>T LOVD substitution exon 1 FKRP:c.329G>C FKRP:c.329G>C LOVD substitution exon 1 FKRP:c.341C>G FKRP:c.341C>G LOVD substitution exon 1 FKRP:c.344C>T FKRP:c.344C>T LOVD substitution exon 1 FKRP:c.362T>A FKRP:c.362T>A LOVD substitution exon 1 FKRP:c.374T>C FKRP:c.374T>C LOVD substitution exon 1 FKRP:c.387_390dup FKRP:c.387_390dup LOVD duplication exon 1 FKRP:c.3G>T FKRP:c.3G>T LOVD substitution exon 1 FKRP:c.400C>T FKRP:c.400C>T LOVD substitution exon 1 FKRP:c.427C>A FKRP:c.427C>A LOVD substitution exon 1 FKRP:c.427_438del FKRP:c.427_438del LOVD deletion exon 1 FKRP:c.430A>G FKRP:c.430A>G LOVD substitution exon 1 FKRP:c.437A>C FKRP:c.437A>C LOVD substitution exon 1 FKRP:c.456C>G FKRP:c.456C>G LOVD substitution exon 1 FKRP:c.469G>C FKRP:c.469G>C LOVD substitution exon 1 FKRP:c.478G>T FKRP:c.478G>T LOVD substitution exon 1 FKRP:c.496G>T FKRP:c.496G>T LOVD substitution exon 1 FKRP:c.499A>G FKRP:c.499A>G LOVD substitution exon 1 FKRP:c.520A>T FKRP:c.520A>T LOVD substitution exon 1 FKRP:c.535A>C FKRP:c.535A>C LOVD substitution exon 1 FKRP:c.545A>G FKRP:c.545A>G LOVD substitution exon 1 FKRP:c.567C>T FKRP:c.567C>T LOVD substitution exon 1 FKRP:c.585C>T FKRP:c.585C>T LOVD substitution exon 1 FKRP:c.586G>A FKRP:c.586G>A LOVD substitution exon 1 FKRP:c.586G>C FKRP:c.586G>C LOVD substitution exon 1 FKRP:c.605T>A FKRP:c.605T>A LOVD substitution exon 1 FKRP:c.606G>A FKRP:c.606G>A LOVD substitution exon 1 FKRP:c.632C>T FKRP:c.632C>T LOVD substitution exon 1 FKRP:c.636G>A FKRP:c.636G>A LOVD substitution exon 1 FKRP:c.638C>T FKRP:c.638C>T LOVD substitution exon 1 FKRP:c.63C>A FKRP:c.63C>A LOVD substitution exon 1 FKRP:c.63C>T FKRP:c.63C>T LOVD substitution exon 1 FKRP:c.648G>A FKRP:c.648G>A LOVD substitution exon 1 FKRP:c.649C>A FKRP:c.649C>A LOVD substitution exon 1 FKRP:c.654G>A FKRP:c.654G>A LOVD substitution exon 1 FKRP:c.661dupA FKRP:c.661dupA LOVD duplication exon 1 FKRP:c.663C>A FKRP:c.663C>A LOVD substitution exon 1 FKRP:c.731G>A FKRP:c.731G>A LOVD substitution exon 1 FKRP:c.740C>A FKRP:c.740C>A LOVD substitution exon 1 FKRP:c.745G>A FKRP:c.745G>A LOVD substitution exon 1 FKRP:c.764G>A FKRP:c.764G>A LOVD substitution exon 1 FKRP:c.823C>T FKRP:c.823C>T LOVD substitution exon 1 FKRP:c.826C>A FKRP:c.826C>A LOVD substitution exon 1 FKRP:c.836G>A FKRP:c.836G>A LOVD substitution exon 1 FKRP:c.854A>C FKRP:c.854A>C LOVD substitution exon 1 FKRP:c.872delA FKRP:c.872delA LOVD deletion exon 1 FKRP:c.878C>T FKRP:c.878C>T LOVD substitution exon 1 FKRP:c.898G>A FKRP:c.898G>A LOVD substitution exon 1 FKRP:c.899T>C FKRP:c.899T>C LOVD substitution exon 1 FKRP:c.914C>T FKRP:c.914C>T LOVD substitution exon 1 FKRP:c.918_929del FKRP:c.918_929del LOVD deletion exon 1 FKRP:c.919T>A FKRP:c.919T>A LOVD substitution exon 1 FKRP:c.926A>G FKRP:c.926A>G LOVD substitution exon 1 FKRP:c.928G>T FKRP:c.928G>T LOVD substitution exon 1 FKRP:c.934C>T FKRP:c.934C>T LOVD substitution exon 1 FKRP:c.940A>C FKRP:c.940A>C LOVD substitution exon 1 FKRP:c.941C>T FKRP:c.941C>T LOVD substitution exon 1 FKRP:c.946C>A FKRP:c.946C>A LOVD substitution exon 1 FKRP:c.946C>T FKRP:c.946C>T LOVD substitution exon 1 FKRP:c.947C>G FKRP:c.947C>G LOVD substitution exon 1 FKRP:c.948delC FKRP:c.948delC LOVD deletion exon 1 FKRP:c.953G>A FKRP:c.953G>A LOVD substitution exon 1 FKRP:c.956T>G FKRP:c.956T>G LOVD substitution exon 1 FKRP:c.962C>A FKRP:c.962C>A LOVD substitution exon 1 FKRP:c.962_970dup FKRP:c.962_970dup LOVD duplication exon 1 FKRP:c.968G>A FKRP:c.968G>A LOVD substitution exon 1 FKRP:c.983A>C FKRP:c.983A>C LOVD substitution exon 1 FKTN:c.*1694T>C FKTN:c.*1694T>C LOVD substitution not within known transcription unit 1 FKTN:c.*214T>A FKTN:c.*214T>A LOVD substitution not within known transcription unit 1 FKTN:c.*2426T>A FKTN:c.*2426T>A LOVD substitution not within known transcription unit 1 FKTN:c.*4392_*4393insAB185332.1 FKTN:c.*4392_*4393insAB185332.1 LOVD insertion not within known transcription unit 1 FKTN:c.*5374_*5846del FKTN:c.*5374_*5846del LOVD deletion not within known transcription unit 1 FKTN:c.*5618T>A FKTN:c.*5618T>A LOVD substitution not within known transcription unit 1 FKTN:c.1026C>A FKTN:c.1026C>A LOVD substitution exon 1 FKTN:c.1044+44A>G FKTN:c.1044+44A>G LOVD substitution intron 1 FKTN:c.1044+58C>T FKTN:c.1044+58C>T LOVD substitution intron 1 FKTN:c.1045-22A>G FKTN:c.1045-22A>G LOVD substitution intron 1 FKTN:c.1058T>A FKTN:c.1058T>A LOVD substitution exon 1 FKTN:c.1073A>C FKTN:c.1073A>C LOVD substitution exon 1 FKTN:c.1112A>G FKTN:c.1112A>G LOVD substitution exon 1 FKTN:c.1167dupA FKTN:c.1167dupA LOVD duplication exon 1 FKTN:c.1176C>A FKTN:c.1176C>A LOVD substitution exon 1 FKTN:c.1215_1226del FKTN:c.1215_1226del LOVD deletion exon 1 FKTN:c.1336A>G FKTN:c.1336A>G LOVD substitution exon 1 FKTN:c.1363delG FKTN:c.1363delG LOVD deletion exon 1 FKTN:c.139C>T FKTN:c.139C>T LOVD substitution exon 1 FKTN:c.165-6A>G FKTN:c.165-6A>G LOVD substitution intron 1 FKTN:c.166-4A>G FKTN:c.166-4A>G LOVD substitution intron 1 FKTN:c.166C>T FKTN:c.166C>T LOVD substitution exon 1 FKTN:c.187_188del FKTN:c.187_188del LOVD deletion exon 1 FKTN:c.302G>T FKTN:c.302G>T LOVD substitution exon 1 FKTN:c.314G>T FKTN:c.314G>T LOVD substitution exon 1 FKTN:c.340G>A FKTN:c.340G>A LOVD substitution exon 1 FKTN:c.345_346delinsCT FKTN:c.345_346delinsCT LOVD complex exon 1 FKTN:c.346C>T FKTN:c.346C>T LOVD substitution exon 1 FKTN:c.373G>A FKTN:c.373G>A LOVD substitution exon 1 FKTN:c.385delA FKTN:c.385delA LOVD deletion exon 1 FKTN:c.454dupT FKTN:c.454dupT LOVD duplication exon 1 FKTN:c.509C>A FKTN:c.509C>A LOVD substitution exon 1 FKTN:c.515A>G FKTN:c.515A>G LOVD substitution exon 1 FKTN:c.527T>C FKTN:c.527T>C LOVD substitution exon 1 FKTN:c.536G>C FKTN:c.536G>C LOVD substitution exon 1 FKTN:c.557A>G FKTN:c.557A>G LOVD substitution exon 1 FKTN:c.607_608delinsTA FKTN:c.607_608delinsTA LOVD complex exon 1 FKTN:c.608G>A FKTN:c.608G>A LOVD substitution exon 1 FKTN:c.642dupT FKTN:c.642dupT LOVD duplication exon 1 FKTN:c.648-1243G>T FKTN:c.648-1243G>T LOVD substitution intron 1 FKTN:c.736A>G FKTN:c.736A>G LOVD substitution exon 1 FKTN:c.748T>G FKTN:c.748T>G LOVD substitution exon 1 FKTN:c.818T>C FKTN:c.818T>C LOVD substitution exon 1 FKTN:c.842T>C FKTN:c.842T>C LOVD substitution exon 1 FKTN:c.854C>T FKTN:c.854C>T LOVD substitution exon 1 FKTN:c.859delA FKTN:c.859delA LOVD deletion exon 1 FKTN:c.906T>A FKTN:c.906T>A LOVD substitution exon 1 FKTN:c.910+14G>A FKTN:c.910+14G>A LOVD substitution intron 1 FKTN:c.911-24_911-23ins(1200) FKTN:c.911-24_911-23ins(1200) LOVD insertion intron 1 FKTN:c.914G>A FKTN:c.914G>A LOVD substitution exon 1 FKTN:c.915G>A FKTN:c.915G>A LOVD substitution exon 1 FKTN:c.915G>C FKTN:c.915G>C LOVD substitution exon 1 FKTN:c.919C>T FKTN:c.919C>T LOVD substitution exon 1 FKTN:c.920G>A FKTN:c.920G>A LOVD substitution exon 1 GK:c.1055+22G>T GK:c.1055+22G>T LOVD substitution intron 1 GK:c.1091G>A GK:c.1091G>A LOVD substitution exon 1 GK:c.1212A>C GK:c.1212A>C LOVD substitution exon 1 GK:c.1225C>T GK:c.1225C>T LOVD substitution exon 1 GK:c.1232G>A GK:c.1232G>A LOVD substitution exon 1 GK:c.1255C>T GK:c.1255C>T LOVD substitution exon 1 GK:c.1301T>C GK:c.1301T>C LOVD substitution exon 1 GK:c.1331A>G GK:c.1331A>G LOVD substitution exon 1 GK:c.1337A>T GK:c.1337A>T LOVD substitution exon 1 GK:c.1502-?_1582+?del GK:c.1502-?_1582+?del LOVD deletion not within known transcription unit 0 GK:c.1525T>C GK:c.1525T>C LOVD substitution exon 1 GK:c.165G>A GK:c.165G>A LOVD substitution exon 1 GK:c.182T>C GK:c.182T>C LOVD substitution exon 1 GK:c.259+1G>A GK:c.259+1G>A LOVD substitution intron 1 GK:c.259+2254G>A GK:c.259+2254G>A LOVD substitution intron 1 GK:c.287C>T GK:c.287C>T LOVD substitution exon 1 GK:c.338-1G>A GK:c.338-1G>A LOVD substitution intron 1 GK:c.553-1G>C GK:c.553-1G>C LOVD substitution intron 1 GK:c.593A>G GK:c.593A>G LOVD substitution exon 1 GK:c.601A>G GK:c.601A>G LOVD substitution exon 1 GK:c.729+17C>A GK:c.729+17C>A LOVD substitution intron 1 GK:c.784T>C GK:c.784T>C LOVD substitution exon 1 GK:c.851C>T GK:c.851C>T LOVD substitution exon 1 GK:c.852-1G>A GK:c.852-1G>A LOVD substitution intron 1 GK:c.857G>C GK:c.857G>C LOVD substitution exon 1 GK:c.880A>G GK:c.880A>G LOVD substitution exon 1 GK:c.894+1G>T GK:c.894+1G>T LOVD substitution intron 1 GK:c.932C>T GK:c.932C>T LOVD substitution exon 1 GK:c.946A>T GK:c.946A>T LOVD substitution exon 1 LAMA2:c.(247T>C) LAMA2:c.(247T>C) LOVD substitution exon 1 LAMA2:c.(283+1G>A) LAMA2:c.(283+1G>A) LOVD substitution intron 1 LAMA2:c.*118T>C LAMA2:c.*118T>C LOVD substitution not within known transcription unit 1 LAMA2:c.*193_*195del LAMA2:c.*193_*195del LOVD deletion not within known transcription unit 1 LAMA2:c.*62_*65dup LAMA2:c.*62_*65dup LOVD duplication not within known transcription unit 1 LAMA2:c.1027+3A>G LAMA2:c.1027+3A>G LOVD substitution intron 1 LAMA2:c.1076T>C LAMA2:c.1076T>C LOVD substitution exon 1 LAMA2:c.112+1G>A LAMA2:c.112+1G>A LOVD substitution intron 1 LAMA2:c.112+3A>G LAMA2:c.112+3A>G LOVD substitution intron 1 LAMA2:c.1177T>G LAMA2:c.1177T>G LOVD substitution exon 1 LAMA2:c.1182T>A LAMA2:c.1182T>A LOVD substitution exon 1 LAMA2:c.1206+11C>T LAMA2:c.1206+11C>T LOVD substitution intron 1 LAMA2:c.1206+2T>G LAMA2:c.1206+2T>G LOVD substitution intron 1 LAMA2:c.1207-1G>A LAMA2:c.1207-1G>A LOVD substitution intron 1 LAMA2:c.1207-1G>C LAMA2:c.1207-1G>C LOVD substitution intron 1 LAMA2:c.1303C>T LAMA2:c.1303C>T LOVD substitution exon 1 LAMA2:c.1306+93T>C LAMA2:c.1306+93T>C LOVD substitution intron 1 LAMA2:c.1307-115A>C LAMA2:c.1307-115A>C LOVD substitution intron 1 LAMA2:c.1307-2A>G LAMA2:c.1307-2A>G LOVD substitution intron 1 LAMA2:c.1326T>G LAMA2:c.1326T>G LOVD substitution exon 1 LAMA2:c.1377delC LAMA2:c.1377delC LOVD deletion exon 1 LAMA2:c.1419G>A LAMA2:c.1419G>A LOVD substitution exon 1 LAMA2:c.1468-122G>A LAMA2:c.1468-122G>A LOVD substitution intron 1 LAMA2:c.1490_1491del LAMA2:c.1490_1491del LOVD deletion exon 1 LAMA2:c.1491T>C LAMA2:c.1491T>C LOVD substitution exon 1 LAMA2:c.156C>T LAMA2:c.156C>T LOVD substitution exon 1 LAMA2:c.1580G>A LAMA2:c.1580G>A LOVD substitution exon 1 LAMA2:c.1609-41_1609-7inv LAMA2:c.1609-41_1609-7inv LOVD inversion intron 1 LAMA2:c.1634T>A LAMA2:c.1634T>A LOVD substitution exon 1 LAMA2:c.164delA LAMA2:c.164delA LOVD deletion exon 1 LAMA2:c.1669C>T LAMA2:c.1669C>T LOVD substitution exon 1 LAMA2:c.1762delG LAMA2:c.1762delG LOVD deletion exon 1 LAMA2:c.1782+10C>T LAMA2:c.1782+10C>T LOVD substitution intron 1 LAMA2:c.1783-19594_5445+1681del LAMA2:c.1783-19594_5445+1681del LOVD deletion intron 1 LAMA2:c.1793_1795del LAMA2:c.1793_1795del LOVD deletion exon 1 LAMA2:c.1798G>A LAMA2:c.1798G>A LOVD substitution exon 1 LAMA2:c.1798_1800del LAMA2:c.1798_1800del LOVD deletion exon 1 LAMA2:c.1823_1824del LAMA2:c.1823_1824del LOVD deletion exon 1 LAMA2:c.1854_1861dup LAMA2:c.1854_1861dup LOVD duplication exon 1 LAMA2:c.1856G>A LAMA2:c.1856G>A LOVD substitution exon 1 LAMA2:c.1884+50A>C LAMA2:c.1884+50A>C LOVD substitution intron 1 LAMA2:c.1884G>A LAMA2:c.1884G>A LOVD substitution exon 1 LAMA2:c.1893_1897del LAMA2:c.1893_1897del LOVD deletion exon 1 LAMA2:c.1976C>A LAMA2:c.1976C>A LOVD substitution exon 1 LAMA2:c.2017G>T LAMA2:c.2017G>T LOVD substitution exon 1 LAMA2:c.2023_2024del LAMA2:c.2023_2024del LOVD deletion exon 1 LAMA2:c.2049_2050del LAMA2:c.2049_2050del LOVD deletion exon 1 LAMA2:c.2054T>C LAMA2:c.2054T>C LOVD substitution exon 1 LAMA2:c.2178C>A LAMA2:c.2178C>A LOVD substitution exon 1 LAMA2:c.2208+2T>C LAMA2:c.2208+2T>C LOVD substitution intron 1 LAMA2:c.2208+42C>T LAMA2:c.2208+42C>T LOVD substitution intron 1 LAMA2:c.2230C>T LAMA2:c.2230C>T LOVD substitution exon 1 LAMA2:c.2235T>A LAMA2:c.2235T>A LOVD substitution exon 1 LAMA2:c.2295C>A LAMA2:c.2295C>A LOVD substitution exon 1 LAMA2:c.2369delC LAMA2:c.2369delC LOVD deletion exon 1 LAMA2:c.2370T>A LAMA2:c.2370T>A LOVD substitution exon 1 LAMA2:c.2383G>T LAMA2:c.2383G>T LOVD substitution exon 1 LAMA2:c.2450+1G>C LAMA2:c.2450+1G>C LOVD substitution intron 1 LAMA2:c.2450+5_2450+11del LAMA2:c.2450+5_2450+11del LOVD deletion intron 1 LAMA2:c.2461A>C LAMA2:c.2461A>C LOVD substitution exon 1 LAMA2:c.2538-1G>C LAMA2:c.2538-1G>C LOVD substitution intron 1 LAMA2:c.2550C>G LAMA2:c.2550C>G LOVD substitution exon 1 LAMA2:c.2556delT LAMA2:c.2556delT LOVD deletion exon 1 LAMA2:c.2576G>T LAMA2:c.2576G>T LOVD substitution exon 1 LAMA2:c.257G>A LAMA2:c.257G>A LOVD substitution exon 1 LAMA2:c.2584T>C LAMA2:c.2584T>C LOVD substitution exon 1 LAMA2:c.2631C>G LAMA2:c.2631C>G LOVD substitution exon 1 LAMA2:c.2749+1G>A LAMA2:c.2749+1G>A LOVD substitution intron 1 LAMA2:c.2750-1G>A LAMA2:c.2750-1G>A LOVD substitution intron 1 LAMA2:c.2756G>T LAMA2:c.2756G>T LOVD substitution exon 1 LAMA2:c.2799A>G LAMA2:c.2799A>G LOVD substitution exon 1 LAMA2:c.283+1G>A LAMA2:c.283+1G>A LOVD substitution intron 1 LAMA2:c.283+2delT LAMA2:c.283+2delT LOVD deletion intron 1 LAMA2:c.283C>T LAMA2:c.283C>T LOVD substitution exon 1 LAMA2:c.284-131C>T LAMA2:c.284-131C>T LOVD substitution intron 1 LAMA2:c.284-85delinsGG LAMA2:c.284-85delinsGG LOVD complex intron 1 LAMA2:c.2857-48C>G LAMA2:c.2857-48C>G LOVD substitution intron 1 LAMA2:c.2901C>A LAMA2:c.2901C>A LOVD substitution exon 1 LAMA2:c.2907C>A LAMA2:c.2907C>A LOVD substitution exon 1 LAMA2:c.2954G>A LAMA2:c.2954G>A LOVD substitution exon 1 LAMA2:c.2962C>T LAMA2:c.2962C>T LOVD substitution exon 1 LAMA2:c.2986T>C LAMA2:c.2986T>C LOVD substitution exon 1 LAMA2:c.2T>C LAMA2:c.2T>C LOVD substitution exon 1 LAMA2:c.3037+140G>A LAMA2:c.3037+140G>A LOVD substitution intron 1 LAMA2:c.3037+49G>A LAMA2:c.3037+49G>A LOVD substitution intron 1 LAMA2:c.3038-156A>G LAMA2:c.3038-156A>G LOVD substitution intron 1 LAMA2:c.3038-295A>G LAMA2:c.3038-295A>G LOVD substitution intron 1 LAMA2:c.3039T>G LAMA2:c.3039T>G LOVD substitution exon 1 LAMA2:c.3085C>T LAMA2:c.3085C>T LOVD substitution exon 1 LAMA2:c.3099T>A LAMA2:c.3099T>A LOVD substitution exon 1 LAMA2:c.3122delG LAMA2:c.3122delG LOVD deletion exon 1 LAMA2:c.3135A>G LAMA2:c.3135A>G LOVD substitution exon 1 LAMA2:c.3154A>G LAMA2:c.3154A>G LOVD substitution exon 1 LAMA2:c.3174+22_3174+23insAT LAMA2:c.3174+22_3174+23insAT LOVD insertion intron 1 LAMA2:c.3174+38A>G LAMA2:c.3174+38A>G LOVD substitution intron 1 LAMA2:c.3175-32_3175-31del LAMA2:c.3175-32_3175-31del LOVD deletion intron 1 LAMA2:c.3215delG LAMA2:c.3215delG LOVD deletion exon 1 LAMA2:c.3294delG LAMA2:c.3294delG LOVD deletion exon 1 LAMA2:c.3338_3345dup LAMA2:c.3338_3345dup LOVD duplication exon 1 LAMA2:c.3411+13G>A LAMA2:c.3411+13G>A LOVD substitution intron 1 LAMA2:c.3412G>A LAMA2:c.3412G>A LOVD substitution exon 1 LAMA2:c.3472A>T LAMA2:c.3472A>T LOVD substitution exon 1 LAMA2:c.3556-189C>G LAMA2:c.3556-189C>G LOVD substitution intron 1 LAMA2:c.3560_3569del LAMA2:c.3560_3569del LOVD deletion exon 1 LAMA2:c.35T>G LAMA2:c.35T>G LOVD substitution exon 1 LAMA2:c.3623_3645del LAMA2:c.3623_3645del LOVD deletion exon 1 LAMA2:c.3630delT LAMA2:c.3630delT LOVD deletion exon 1 LAMA2:c.363C>A LAMA2:c.363C>A LOVD substitution exon 1 LAMA2:c.3651delT LAMA2:c.3651delT LOVD deletion exon 1 LAMA2:c.3718C>T LAMA2:c.3718C>T LOVD substitution exon 1 LAMA2:c.3719A>T LAMA2:c.3719A>T LOVD substitution exon 1 LAMA2:c.3768_3771dup LAMA2:c.3768_3771dup LOVD duplication exon 1 LAMA2:c.3799_3821del LAMA2:c.3799_3821del LOVD deletion exon 1 LAMA2:c.381C>A LAMA2:c.381C>A LOVD substitution exon 1 LAMA2:c.3829C>T LAMA2:c.3829C>T LOVD substitution exon 1 LAMA2:c.3832G>T LAMA2:c.3832G>T LOVD substitution exon 1 LAMA2:c.391C>T LAMA2:c.391C>T LOVD substitution exon 1 LAMA2:c.3924+2T>C LAMA2:c.3924+2T>C LOVD substitution intron 1 LAMA2:c.3930A>G LAMA2:c.3930A>G LOVD substitution exon 1 LAMA2:c.396+1G>T LAMA2:c.396+1G>T LOVD substitution intron 1 LAMA2:c.397-13_398del LAMA2:c.397-13_398del LOVD deletion intron 1 LAMA2:c.3976C>T LAMA2:c.3976C>T LOVD substitution exon 1 LAMA2:c.4002T>G LAMA2:c.4002T>G LOVD substitution exon 1 LAMA2:c.4035T>G LAMA2:c.4035T>G LOVD substitution exon 1 LAMA2:c.4048C>T LAMA2:c.4048C>T LOVD substitution exon 1 LAMA2:c.4049delG LAMA2:c.4049delG LOVD deletion exon 1 LAMA2:c.4059-2A>G LAMA2:c.4059-2A>G LOVD substitution intron 1 LAMA2:c.411G>A LAMA2:c.411G>A LOVD substitution exon 1 LAMA2:c.412T>C LAMA2:c.412T>C LOVD substitution exon 1 LAMA2:c.4177-73C>T LAMA2:c.4177-73C>T LOVD substitution intron 1 LAMA2:c.4198C>T LAMA2:c.4198C>T LOVD substitution exon 1 LAMA2:c.4280delG LAMA2:c.4280delG LOVD deletion exon 1 LAMA2:c.4309C>T LAMA2:c.4309C>T LOVD substitution exon 1 LAMA2:c.4312-19_4312-17del LAMA2:c.4312-19_4312-17del LOVD deletion intron 1 LAMA2:c.4312-1G>C LAMA2:c.4312-1G>C LOVD substitution intron 1 LAMA2:c.4312-217T>C LAMA2:c.4312-217T>C LOVD substitution intron 1 LAMA2:c.4318C>T LAMA2:c.4318C>T LOVD substitution exon 1 LAMA2:c.4348C>T LAMA2:c.4348C>T LOVD substitution exon 1 LAMA2:c.4375delG LAMA2:c.4375delG LOVD deletion exon 1 LAMA2:c.437C>T LAMA2:c.437C>T LOVD substitution exon 1 LAMA2:c.4405T>C LAMA2:c.4405T>C LOVD substitution exon 1 LAMA2:c.4407T>C LAMA2:c.4407T>C LOVD substitution exon 1 LAMA2:c.4446C>T LAMA2:c.4446C>T LOVD substitution exon 1 LAMA2:c.4523G>A LAMA2:c.4523G>A LOVD substitution exon 1 LAMA2:c.4524-247A>G LAMA2:c.4524-247A>G LOVD substitution intron 1 LAMA2:c.4524-2A>G LAMA2:c.4524-2A>G LOVD substitution intron 1 LAMA2:c.4524-2A>T LAMA2:c.4524-2A>T LOVD substitution intron 1 LAMA2:c.454T>G LAMA2:c.454T>G LOVD substitution exon 1 LAMA2:c.4638C>A LAMA2:c.4638C>A LOVD substitution exon 1 LAMA2:c.4645C>T LAMA2:c.4645C>T LOVD substitution exon 1 LAMA2:c.4654G>A LAMA2:c.4654G>A LOVD substitution exon 1 LAMA2:c.4690C>T LAMA2:c.4690C>T LOVD substitution exon 1 LAMA2:c.4692_4695dup LAMA2:c.4692_4695dup LOVD duplication exon 1 LAMA2:c.470C>T LAMA2:c.470C>T LOVD substitution exon 1 LAMA2:c.4739dupG LAMA2:c.4739dupG LOVD duplication exon 1 LAMA2:c.4750G>A LAMA2:c.4750G>A LOVD substitution exon 1 LAMA2:c.4761dupT LAMA2:c.4761dupT LOVD duplication exon 1 LAMA2:c.4775dupT LAMA2:c.4775dupT LOVD duplication exon 1 LAMA2:c.47delG LAMA2:c.47delG LOVD deletion exon 1 LAMA2:c.4852G>T LAMA2:c.4852G>T LOVD substitution exon 1 LAMA2:c.4860+2delinsGGCC LAMA2:c.4860+2delinsGGCC LOVD complex intron 1 LAMA2:c.4860+5G>A? LAMA2:c.4860+5G>A? LOVD substitution intron 0 LAMA2:c.4861-55A>G LAMA2:c.4861-55A>G LOVD substitution intron 1 LAMA2:c.4861delC LAMA2:c.4861delC LOVD deletion exon 1 LAMA2:c.4941delG LAMA2:c.4941delG LOVD deletion exon 1 LAMA2:c.4956C>G LAMA2:c.4956C>G LOVD substitution exon 1 LAMA2:c.4960-17C>A LAMA2:c.4960-17C>A LOVD substitution intron 1 LAMA2:c.498G>A LAMA2:c.498G>A LOVD substitution exon 1 LAMA2:c.5006delA LAMA2:c.5006delA LOVD deletion exon 1 LAMA2:c.500A>C LAMA2:c.500A>C LOVD substitution exon 1 LAMA2:c.5072-1454_5154delinsAGATTGCC LAMA2:c.5072-1454_5154delinsAGATTGCC LOVD complex intron 1 LAMA2:c.5072-6delC LAMA2:c.5072-6delC LOVD deletion intron 1 LAMA2:c.5116C>T LAMA2:c.5116C>T LOVD substitution exon 1 LAMA2:c.5182delC LAMA2:c.5182delC LOVD deletion exon 1 LAMA2:c.5234+1G>A LAMA2:c.5234+1G>A LOVD substitution intron 1 LAMA2:c.5259delA LAMA2:c.5259delA LOVD deletion exon 1 LAMA2:c.5290dupG LAMA2:c.5290dupG LOVD duplication exon 1 LAMA2:c.5325dupA LAMA2:c.5325dupA LOVD duplication exon 1 LAMA2:c.5382A>T LAMA2:c.5382A>T LOVD substitution exon 1 LAMA2:c.5466A>G LAMA2:c.5466A>G LOVD substitution exon 1 LAMA2:c.5476C>T LAMA2:c.5476C>T LOVD substitution exon 1 LAMA2:c.5487_5488del LAMA2:c.5487_5488del LOVD deletion exon 1 LAMA2:c.5502G>A LAMA2:c.5502G>A LOVD substitution exon 1 LAMA2:c.5530C>A LAMA2:c.5530C>A LOVD substitution exon 1 LAMA2:c.5550_5562+8delinsG LAMA2:c.5550_5562+8delinsG LOVD complex not within known transcription unit 1 LAMA2:c.5562+5G>A LAMA2:c.5562+5G>A LOVD substitution intron 1 LAMA2:c.5562+5G>C LAMA2:c.5562+5G>C LOVD substitution intron 1 LAMA2:c.5654delA LAMA2:c.5654delA LOVD deletion exon 1 LAMA2:c.5714C>G LAMA2:c.5714C>G LOVD substitution exon 1 LAMA2:c.5727-24_5727-21delinsACTG LAMA2:c.5727-24_5727-21delinsACTG LOVD complex intron 1 LAMA2:c.5865+175A>C LAMA2:c.5865+175A>C LOVD substitution intron 1 LAMA2:c.5865delG LAMA2:c.5865delG LOVD deletion exon 1 LAMA2:c.5914C>T LAMA2:c.5914C>T LOVD substitution exon 1 LAMA2:c.5998delA LAMA2:c.5998delA LOVD deletion exon 1 LAMA2:c.6085+?delA LAMA2:c.6085+?delA LOVD deletion not within known transcription unit 0 LAMA2:c.6153A>T LAMA2:c.6153A>T LOVD substitution exon 1 LAMA2:c.6207C>A LAMA2:c.6207C>A LOVD substitution exon 1 LAMA2:c.6237G>A LAMA2:c.6237G>A LOVD substitution exon 1 LAMA2:c.6266delA LAMA2:c.6266delA LOVD deletion exon 1 LAMA2:c.6268+77C>T LAMA2:c.6268+77C>T LOVD substitution intron 1 LAMA2:c.6279C>T LAMA2:c.6279C>T LOVD substitution exon 1 LAMA2:c.628G>T LAMA2:c.628G>T LOVD substitution exon 1 LAMA2:c.639+2T>A LAMA2:c.639+2T>A LOVD substitution intron 1 LAMA2:c.640-?_1782+?del LAMA2:c.640-?_1782+?del LOVD deletion not within known transcription unit 0 LAMA2:c.6429+1G>T LAMA2:c.6429+1G>T LOVD substitution intron 1 LAMA2:c.6450A>T LAMA2:c.6450A>T LOVD substitution exon 1 LAMA2:c.6459C>T LAMA2:c.6459C>T LOVD substitution exon 1 LAMA2:c.6488delA LAMA2:c.6488delA LOVD deletion exon 1 LAMA2:c.6548T>G LAMA2:c.6548T>G LOVD substitution exon 1 LAMA2:c.6588dupT LAMA2:c.6588dupT LOVD duplication exon 1 LAMA2:c.6617del LAMA2:c.6617del LOVD deletion exon 1 LAMA2:c.6690C>A LAMA2:c.6690C>A LOVD substitution exon 1 LAMA2:c.6706A>C LAMA2:c.6706A>C LOVD substitution exon 1 LAMA2:c.6707+37T>C LAMA2:c.6707+37T>C LOVD substitution intron 1 LAMA2:c.6708-16A>G LAMA2:c.6708-16A>G LOVD substitution intron 1 LAMA2:c.6708-98C>T LAMA2:c.6708-98C>T LOVD substitution intron 1 LAMA2:c.6867+1G>A LAMA2:c.6867+1G>A LOVD substitution intron 1 LAMA2:c.6868-153C>A LAMA2:c.6868-153C>A LOVD substitution intron 1 LAMA2:c.6919_6920del LAMA2:c.6919_6920del LOVD deletion exon 1 LAMA2:c.6948G>A LAMA2:c.6948G>A LOVD substitution exon 1 LAMA2:c.6955C>T LAMA2:c.6955C>T LOVD substitution exon 1 LAMA2:c.6993-2A>C LAMA2:c.6993-2A>C LOVD substitution intron 1 LAMA2:c.6993-44T>C LAMA2:c.6993-44T>C LOVD substitution intron 1 LAMA2:c.6993_6999del LAMA2:c.6993_6999del LOVD deletion exon 1 LAMA2:c.6995delC LAMA2:c.6995delC LOVD deletion exon 1 LAMA2:c.7071G>A LAMA2:c.7071G>A LOVD substitution exon 1 LAMA2:c.7074C>A LAMA2:c.7074C>A LOVD substitution exon 1 LAMA2:c.7147C>T LAMA2:c.7147C>T LOVD substitution exon 1 LAMA2:c.728T>C LAMA2:c.728T>C LOVD substitution exon 1 LAMA2:c.7297C>T LAMA2:c.7297C>T LOVD substitution exon 1 LAMA2:c.7377dupT LAMA2:c.7377dupT LOVD duplication exon 1 LAMA2:c.7395T>C LAMA2:c.7395T>C LOVD substitution exon 1 LAMA2:c.7431A>T LAMA2:c.7431A>T LOVD substitution exon 1 LAMA2:c.7435_7436del LAMA2:c.7435_7436del LOVD deletion exon 1 LAMA2:c.7439+1G>A LAMA2:c.7439+1G>A LOVD substitution intron 1 LAMA2:c.7451+37A>G LAMA2:c.7451+37A>G LOVD substitution intron 1 LAMA2:c.745C>T LAMA2:c.745C>T LOVD substitution exon 1 LAMA2:c.7490_7493dup LAMA2:c.7490_7493dup LOVD duplication exon 1 LAMA2:c.7491delA LAMA2:c.7491delA LOVD deletion exon 1 LAMA2:c.7571A>T LAMA2:c.7571A>T LOVD substitution exon 1 LAMA2:c.7614G>A LAMA2:c.7614G>A LOVD substitution exon 1 LAMA2:c.7620C>G LAMA2:c.7620C>G LOVD substitution exon 1 LAMA2:c.7658delC LAMA2:c.7658delC LOVD deletion exon 1 LAMA2:c.7661T>C LAMA2:c.7661T>C LOVD substitution exon 1 LAMA2:c.7681G>A LAMA2:c.7681G>A LOVD substitution exon 1 LAMA2:c.7691T>C LAMA2:c.7691T>C LOVD substitution exon 1 LAMA2:c.7732C>T LAMA2:c.7732C>T LOVD substitution exon 1 LAMA2:c.7749+132A>T LAMA2:c.7749+132A>T LOVD substitution intron 1 LAMA2:c.7749+80C>T LAMA2:c.7749+80C>T LOVD substitution intron 1 LAMA2:c.7750-136C>G LAMA2:c.7750-136C>G LOVD substitution intron 1 LAMA2:c.7750-1713_7899-2154del LAMA2:c.7750-1713_7899-2154del LOVD deletion intron 1 LAMA2:c.7750-87C>T LAMA2:c.7750-87C>T LOVD substitution intron 1 LAMA2:c.7756T>C LAMA2:c.7756T>C LOVD substitution exon 1 LAMA2:c.7760T>C LAMA2:c.7760T>C LOVD substitution exon 1 LAMA2:c.7810C>T LAMA2:c.7810C>T LOVD substitution exon 1 LAMA2:c.7830G>C LAMA2:c.7830G>C LOVD substitution exon 1 LAMA2:c.7840G>A LAMA2:c.7840G>A LOVD substitution exon 1 LAMA2:c.7845G>A LAMA2:c.7845G>A LOVD substitution exon 1 LAMA2:c.7881T>G LAMA2:c.7881T>G LOVD substitution exon 1 LAMA2:c.7898+102C>A LAMA2:c.7898+102C>A LOVD substitution intron 1 LAMA2:c.7898+178C>T LAMA2:c.7898+178C>T LOVD substitution intron 1 LAMA2:c.7898+1G>T LAMA2:c.7898+1G>T LOVD substitution intron 1 LAMA2:c.7906A>G LAMA2:c.7906A>G LOVD substitution exon 1 LAMA2:c.7929A>G LAMA2:c.7929A>G LOVD substitution exon 1 LAMA2:c.8007delT LAMA2:c.8007delT LOVD deletion exon 1 LAMA2:c.8075+1_8075+2del LAMA2:c.8075+1_8075+2del LOVD deletion intron 1 LAMA2:c.8076-24dupA LAMA2:c.8076-24dupA LOVD duplication intron 1 LAMA2:c.8124T>A LAMA2:c.8124T>A LOVD substitution exon 1 LAMA2:c.817A>T LAMA2:c.817A>T LOVD substitution exon 1 LAMA2:c.818G>A LAMA2:c.818G>A LOVD substitution exon 1 LAMA2:c.819+197G>A LAMA2:c.819+197G>A LOVD substitution intron 1 LAMA2:c.8244+1G>A LAMA2:c.8244+1G>A LOVD substitution intron 1 LAMA2:c.8244+1G>C LAMA2:c.8244+1G>C LOVD substitution intron 1 LAMA2:c.8244+3_8244+6del LAMA2:c.8244+3_8244+6del LOVD deletion intron 1 LAMA2:c.8245-159A>G LAMA2:c.8245-159A>G LOVD substitution intron 1 LAMA2:c.8245-193T>C LAMA2:c.8245-193T>C LOVD substitution intron 1 LAMA2:c.8245-2A>G LAMA2:c.8245-2A>G LOVD substitution intron 1 LAMA2:c.825delC LAMA2:c.825delC LOVD deletion exon 1 LAMA2:c.8265delA LAMA2:c.8265delA LOVD deletion exon 1 LAMA2:c.82C>T LAMA2:c.82C>T LOVD substitution exon 1 LAMA2:c.8357+1G>A LAMA2:c.8357+1G>A LOVD substitution intron 1 LAMA2:c.8443_8450del LAMA2:c.8443_8450del LOVD deletion exon 1 LAMA2:c.846A>T LAMA2:c.846A>T LOVD substitution exon 1 LAMA2:c.850G>A LAMA2:c.850G>A LOVD substitution exon 1 LAMA2:c.855G>T LAMA2:c.855G>T LOVD substitution exon 1 LAMA2:c.8586T>C LAMA2:c.8586T>C LOVD substitution exon 1 LAMA2:c.8613dupC LAMA2:c.8613dupC LOVD duplication exon 1 LAMA2:c.8665G>A LAMA2:c.8665G>A LOVD substitution exon 1 LAMA2:c.8669dupT LAMA2:c.8669dupT LOVD duplication exon 1 LAMA2:c.8691A>G LAMA2:c.8691A>G LOVD substitution exon 1 LAMA2:c.8776_8792del LAMA2:c.8776_8792del LOVD deletion exon 1 LAMA2:c.8858-8T>G LAMA2:c.8858-8T>G LOVD substitution intron 1 LAMA2:c.8925A>T LAMA2:c.8925A>T LOVD substitution exon 1 LAMA2:c.8988+1G>A LAMA2:c.8988+1G>A LOVD substitution intron 1 LAMA2:c.909+95A>T LAMA2:c.909+95A>T LOVD substitution intron 1 LAMA2:c.9095dupA LAMA2:c.9095dupA LOVD duplication exon 1 LAMA2:c.910-1G>T LAMA2:c.910-1G>T LOVD substitution intron 1 LAMA2:c.9101_9104dup LAMA2:c.9101_9104dup LOVD duplication exon 1 LAMA2:c.9211+6T>C LAMA2:c.9211+6T>C LOVD substitution intron 1 LAMA2:c.9211+74G>A LAMA2:c.9211+74G>A LOVD substitution intron 1 LAMA2:c.9235_9238dup LAMA2:c.9235_9238dup LOVD duplication exon 1 LAMA2:c.9253C>T LAMA2:c.9253C>T LOVD substitution exon 1 LAMA2:c.939_940delAT LAMA2:c.939_940delAT LOVD deletion exon 1 LAMA2:c.94C>T LAMA2:c.94C>T LOVD substitution exon 1 LAMA2:c.951_952dup LAMA2:c.951_952dup LOVD duplication exon 1 LAMA2:c.981G>A LAMA2:c.981G>A LOVD substitution exon 1 LAMA2:c.991A>T LAMA2:c.991A>T LOVD substitution exon 1 LARGE:c.-63C>T LARGE:c.-63C>T LOVD substitution not within known transcription unit 1 LARGE:c.1092C>T LARGE:c.1092C>T LOVD substitution exon 1 LARGE:c.1287+105G>C LARGE:c.1287+105G>C LOVD substitution intron 1 LARGE:c.1287+146C>T LARGE:c.1287+146C>T LOVD substitution intron 1 LARGE:c.1328_1329delinsAT LARGE:c.1328_1329delinsAT LOVD complex exon 1 LARGE:c.1431C>T LARGE:c.1431C>T LOVD substitution exon 1 LARGE:c.1451+38C>T LARGE:c.1451+38C>T LOVD substitution intron 1 LARGE:c.1483T>C LARGE:c.1483T>C LOVD substitution exon 1 LARGE:c.1525G>A LARGE:c.1525G>A LOVD substitution exon 1 LARGE:c.1548C>G LARGE:c.1548C>G LOVD substitution exon 1 LARGE:c.1640G>A LARGE:c.1640G>A LOVD substitution exon 1 LARGE:c.16A>C LARGE:c.16A>C LOVD substitution exon 1 LARGE:c.1827A>T LARGE:c.1827A>T LOVD substitution exon 1 LARGE:c.1878-24A>G LARGE:c.1878-24A>G LOVD substitution intron 1 LARGE:c.1994G>A LARGE:c.1994G>A LOVD substitution exon 1 LARGE:c.1999dupT LARGE:c.1999dupT LOVD duplication exon 1 LARGE:c.2073+36C>T LARGE:c.2073+36C>T LOVD substitution intron 1 LARGE:c.2100C>T LARGE:c.2100C>T LOVD substitution exon 1 LARGE:c.211G>A LARGE:c.211G>A LOVD substitution exon 1 LARGE:c.309C>A LARGE:c.309C>A LOVD substitution exon 1 LARGE:c.409-19C>T LARGE:c.409-19C>T LOVD substitution intron 1 LARGE:c.435C>T LARGE:c.435C>T LOVD substitution exon 1 LARGE:c.552G>A LARGE:c.552G>A LOVD substitution exon 1 LARGE:c.862T>C LARGE:c.862T>C LOVD substitution exon 1 LARGE:c.893-17976_1132-1388del LARGE:c.893-17976_1132-1388del LOVD deletion intron 1 LARGE:c.893-64_893-55del LARGE:c.893-64_893-55del LOVD deletion intron 1 LARGE:c.992C>T LARGE:c.992C>T LOVD substitution exon 1 LMNA:c.*1022C>T LMNA:c.*1022C>T LOVD substitution not within known transcription unit 1 LMNA:c.*1046C>T LMNA:c.*1046C>T LOVD substitution not within known transcription unit 1 LMNA:c.*140T>G LMNA:c.*140T>G LOVD substitution not within known transcription unit 1 LMNA:c.*147T>A LMNA:c.*147T>A LOVD substitution not within known transcription unit 1 LMNA:c.*192A>C LMNA:c.*192A>C LOVD substitution not within known transcription unit 1 LMNA:c.*211delA LMNA:c.*211delA LOVD deletion not within known transcription unit 1 LMNA:c.*341G>T LMNA:c.*341G>T LOVD substitution not within known transcription unit 1 LMNA:c.*483_*484insGA LMNA:c.*483_*484insGA LOVD insertion not within known transcription unit 1 LMNA:c.*739G>A LMNA:c.*739G>A LOVD substitution not within known transcription unit 1 LMNA:c.*79G>C LMNA:c.*79G>C LOVD substitution not within known transcription unit 1 LMNA:c.*915C>T LMNA:c.*915C>T LOVD substitution not within known transcription unit 1 LMNA:c.-1214T>C LMNA:c.-1214T>C LOVD substitution not within known transcription unit 1 LMNA:c.-1242T>C LMNA:c.-1242T>C LOVD substitution not within known transcription unit 1 LMNA:c.-128T>C LMNA:c.-128T>C LOVD substitution not within known transcription unit 1 LMNA:c.-31735+?_357-?del LMNA:c.-31735+?_357-?del LOVD deletion not within known transcription unit 0 LMNA:c.-3_12del LMNA:c.-3_12del LOVD deletion not within known transcription unit 1 LMNA:c.-845dupC LMNA:c.-845dupC LOVD duplication not within known transcription unit 1 LMNA:c.1003C>T LMNA:c.1003C>T LOVD substitution exon 1 LMNA:c.1007G>A LMNA:c.1007G>A LOVD substitution exon 1 LMNA:c.1022A>C LMNA:c.1022A>C LOVD substitution exon 1 LMNA:c.1027C>T LMNA:c.1027C>T LOVD substitution exon 1 LMNA:c.1028G>A LMNA:c.1028G>A LOVD substitution exon 1 LMNA:c.1039G>A LMNA:c.1039G>A LOVD substitution exon 1 LMNA:c.103C>G LMNA:c.103C>G LOVD substitution exon 1 LMNA:c.1048G>C LMNA:c.1048G>C LOVD substitution exon 1 LMNA:c.1063C>T LMNA:c.1063C>T LOVD substitution exon 1 LMNA:c.1067T>G LMNA:c.1067T>G LOVD substitution exon 1 LMNA:c.1072G>A LMNA:c.1072G>A LOVD substitution exon 1 LMNA:c.1098G>A LMNA:c.1098G>A LOVD substitution exon 1 LMNA:c.1112T>A LMNA:c.1112T>A LOVD substitution exon 1 LMNA:c.1114delG LMNA:c.1114delG LOVD deletion exon 1 LMNA:c.1129C>T LMNA:c.1129C>T LOVD substitution exon 1 LMNA:c.1130G>A LMNA:c.1130G>A LOVD substitution exon 1 LMNA:c.1130G>T LMNA:c.1130G>T LOVD substitution exon 1 LMNA:c.1144G>C LMNA:c.1144G>C LOVD substitution exon 1 LMNA:c.1146C>T LMNA:c.1146C>T LOVD substitution exon 1 LMNA:c.1157+16G>A LMNA:c.1157+16G>A LOVD substitution intron 1 LMNA:c.1157G>A LMNA:c.1157G>A LOVD substitution exon 1 LMNA:c.1158-38G>A LMNA:c.1158-38G>A LOVD substitution intron 1 LMNA:c.1158-43A>G LMNA:c.1158-43A>G LOVD substitution intron 1 LMNA:c.1158-44C>T LMNA:c.1158-44C>T LOVD substitution intron 1 LMNA:c.1163G>A LMNA:c.1163G>A LOVD substitution exon 1 LMNA:c.1163G>C LMNA:c.1163G>C LOVD substitution exon 1 LMNA:c.1195C>T LMNA:c.1195C>T LOVD substitution exon 1 LMNA:c.1201C>T LMNA:c.1201C>T LOVD substitution exon 1 LMNA:c.127G>A LMNA:c.127G>A LOVD substitution exon 1 LMNA:c.1294C>T LMNA:c.1294C>T LOVD substitution exon 1 LMNA:c.1299C>T LMNA:c.1299C>T LOVD substitution exon 1 LMNA:c.1303C>T LMNA:c.1303C>T LOVD substitution exon 1 LMNA:c.1304_1307dup LMNA:c.1304_1307dup LOVD duplication exon 1 LMNA:c.130G>T LMNA:c.130G>T LOVD substitution exon 1 LMNA:c.1318G>A LMNA:c.1318G>A LOVD substitution exon 1 LMNA:c.1337A>T LMNA:c.1337A>T LOVD substitution exon 1 LMNA:c.1338T>C LMNA:c.1338T>C LOVD substitution exon 1 LMNA:c.134A>G LMNA:c.134A>G LOVD substitution exon 1 LMNA:c.1357C>T LMNA:c.1357C>T LOVD substitution exon 1 LMNA:c.1367A>T? LMNA:c.1367A>T? LOVD substitution exon 0 LMNA:c.1368C>A LMNA:c.1368C>A LOVD substitution exon 1 LMNA:c.1368_1370del LMNA:c.1368_1370del LOVD deletion exon 1 LMNA:c.1370delA LMNA:c.1370delA LOVD deletion exon 1 LMNA:c.1375A>T LMNA:c.1375A>T LOVD substitution exon 1 LMNA:c.1394G>A LMNA:c.1394G>A LOVD substitution exon 1 LMNA:c.1396A>G LMNA:c.1396A>G LOVD substitution exon 1 LMNA:c.1397delA LMNA:c.1397delA LOVD deletion exon 1 LMNA:c.139G>C LMNA:c.139G>C LOVD substitution exon 1 LMNA:c.1406T>C LMNA:c.1406T>C LOVD substitution exon 1 LMNA:c.1411C>G LMNA:c.1411C>G LOVD substitution exon 1 LMNA:c.1411C>T LMNA:c.1411C>T LOVD substitution exon 1 LMNA:c.1412G>A LMNA:c.1412G>A LOVD substitution exon 1 LMNA:c.1422_1424dup LMNA:c.1422_1424dup LOVD duplication exon 1 LMNA:c.1441T>C LMNA:c.1441T>C LOVD substitution exon 1 LMNA:c.1444C>T LMNA:c.1444C>T LOVD substitution exon 1 LMNA:c.1445G>A LMNA:c.1445G>A LOVD substitution exon 1 LMNA:c.1445G>T LMNA:c.1445G>T LOVD substitution exon 1 LMNA:c.1458G>C LMNA:c.1458G>C LOVD substitution exon 1 LMNA:c.1458G>T LMNA:c.1458G>T LOVD substitution exon 1 LMNA:c.1486A>C LMNA:c.1486A>C LOVD substitution exon 1 LMNA:c.1488+5G>C LMNA:c.1488+5G>C LOVD substitution intron 1 LMNA:c.1489-41C>T LMNA:c.1489-41C>T LOVD substitution intron 1 LMNA:c.148C>A LMNA:c.148C>A LOVD substitution exon 1 LMNA:c.1494G>C LMNA:c.1494G>C LOVD substitution exon 1 LMNA:c.1494G>T LMNA:c.1494G>T LOVD substitution exon 1 LMNA:c.149G>C LMNA:c.149G>C LOVD substitution exon 1 LMNA:c.1526dup LMNA:c.1526dup LOVD duplication exon 1 LMNA:c.1535T>C LMNA:c.1535T>C LOVD substitution exon 1 LMNA:c.1551G>A LMNA:c.1551G>A LOVD substitution exon 1 LMNA:c.1559G>C LMNA:c.1559G>C LOVD substitution exon 1 LMNA:c.155T>C LMNA:c.155T>C LOVD substitution exon 1 LMNA:c.1576_1579dup LMNA:c.1576_1579dup LOVD duplication exon 1 LMNA:c.1579C>T LMNA:c.1579C>T LOVD substitution exon 1 LMNA:c.1580G>A LMNA:c.1580G>A LOVD substitution exon 1 LMNA:c.1580G>C LMNA:c.1580G>C LOVD substitution exon 1 LMNA:c.1583C>A LMNA:c.1583C>A LOVD substitution exon 1 LMNA:c.1583C>G LMNA:c.1583C>G LOVD substitution exon 1 LMNA:c.1583C>T LMNA:c.1583C>T LOVD substitution exon 1 LMNA:c.1586C>T LMNA:c.1586C>T LOVD substitution exon 1 LMNA:c.1589T>C LMNA:c.1589T>C LOVD substitution exon 1 LMNA:c.158A>T LMNA:c.158A>T LOVD substitution exon 1 LMNA:c.1608+4A>G LMNA:c.1608+4A>G LOVD substitution intron 1 LMNA:c.1608+5G>C LMNA:c.1608+5G>C LOVD substitution intron 1 LMNA:c.1609-3C>G LMNA:c.1609-3C>G LOVD substitution intron 1 LMNA:c.1619T>C LMNA:c.1619T>C LOVD substitution exon 1 LMNA:c.1621C>T LMNA:c.1621C>T LOVD substitution exon 1 LMNA:c.1622G>A LMNA:c.1622G>A LOVD substitution exon 1 LMNA:c.1626G>C LMNA:c.1626G>C LOVD substitution exon 1 LMNA:c.1683G>C LMNA:c.1683G>C LOVD substitution exon 1 LMNA:c.1698+13C>A LMNA:c.1698+13C>A LOVD substitution intron 1 LMNA:c.1698+13C>T LMNA:c.1698+13C>T LOVD substitution intron 1 LMNA:c.1698+83G>A LMNA:c.1698+83G>A LOVD substitution intron 1 LMNA:c.1698C>T LMNA:c.1698C>T LOVD substitution exon 1 LMNA:c.169G>C LMNA:c.169G>C LOVD substitution exon 1 LMNA:c.16C>T LMNA:c.16C>T LOVD substitution exon 1 LMNA:c.1718C>T LMNA:c.1718C>T LOVD substitution exon 1 LMNA:c.1731T>C LMNA:c.1731T>C LOVD substitution exon 1 LMNA:c.1733A>T LMNA:c.1733A>T LOVD substitution exon 1 LMNA:c.1745G>A LMNA:c.1745G>A LOVD substitution exon 1 LMNA:c.1748C>T LMNA:c.1748C>T LOVD substitution exon 1 LMNA:c.1751G>A LMNA:c.1751G>A LOVD substitution exon 1 LMNA:c.1761G>A LMNA:c.1761G>A LOVD substitution exon 1 LMNA:c.176T>G LMNA:c.176T>G LOVD substitution exon 1 LMNA:c.1772G>T LMNA:c.1772G>T LOVD substitution exon 1 LMNA:c.1786G>A LMNA:c.1786G>A LOVD substitution exon 1 LMNA:c.178C>G LMNA:c.178C>G LOVD substitution exon 1 LMNA:c.1821G>A LMNA:c.1821G>A LOVD substitution exon 1 LMNA:c.1822G>A LMNA:c.1822G>A LOVD substitution exon 1 LMNA:c.1824C>T LMNA:c.1824C>T LOVD substitution exon 1 LMNA:c.184C>G LMNA:c.184C>G LOVD substitution exon 1 LMNA:c.1851C>T LMNA:c.1851C>T LOVD substitution exon 1 LMNA:c.1868C>G LMNA:c.1868C>G LOVD substitution exon 1 LMNA:c.1871G>A LMNA:c.1871G>A LOVD substitution exon 1 LMNA:c.1871G>T LMNA:c.1871G>T LOVD substitution exon 1 LMNA:c.188T>A LMNA:c.188T>A LOVD substitution exon 1 LMNA:c.188T>G LMNA:c.188T>G LOVD substitution exon 1 LMNA:c.1904G>A LMNA:c.1904G>A LOVD substitution exon 1 LMNA:c.1930C>T LMNA:c.1930C>T LOVD substitution exon 1 LMNA:c.1931G>A LMNA:c.1931G>A LOVD substitution exon 1 LMNA:c.194A>G LMNA:c.194A>G LOVD substitution exon 1 LMNA:c.1960C>T LMNA:c.1960C>T LOVD substitution exon 1 LMNA:c.1968+1G>A LMNA:c.1968+1G>A LOVD substitution intron 1 LMNA:c.1968+26A>G LMNA:c.1968+26A>G LOVD substitution intron 1 LMNA:c.1968+2T>C LMNA:c.1968+2T>C LOVD substitution intron 1 LMNA:c.1968+5G>C LMNA:c.1968+5G>C LOVD substitution intron 1 LMNA:c.203_208del LMNA:c.203_208del LOVD deletion exon 1 LMNA:c.244G>A LMNA:c.244G>A LOVD substitution exon 1 LMNA:c.254T>G LMNA:c.254T>G LOVD substitution exon 1 LMNA:c.266G>T LMNA:c.266G>T LOVD substitution exon 1 LMNA:c.273C>A LMNA:c.273C>A LOVD substitution exon 1 LMNA:c.289A>G LMNA:c.289A>G LOVD substitution exon 1 LMNA:c.29C>T LMNA:c.29C>T LOVD substitution exon 1 LMNA:c.302G>C LMNA:c.302G>C LOVD substitution exon 1 LMNA:c.331G>T LMNA:c.331G>T LOVD substitution exon 1 LMNA:c.334_336del LMNA:c.334_336del LOVD deletion exon 1 LMNA:c.356+310T>C LMNA:c.356+310T>C LOVD substitution intron 1 LMNA:c.357-1718G>A LMNA:c.357-1718G>A LOVD substitution intron 1 LMNA:c.357-171dupG LMNA:c.357-171dupG LOVD duplication intron 1 LMNA:c.357-1788A>G LMNA:c.357-1788A>G LOVD substitution intron 1 LMNA:c.357-1G>T LMNA:c.357-1G>T LOVD substitution intron 1 LMNA:c.357-269T>C LMNA:c.357-269T>C LOVD substitution intron 1 LMNA:c.357-359C>A LMNA:c.357-359C>A LOVD substitution intron 1 LMNA:c.357C>T LMNA:c.357C>T LOVD substitution exon 1 LMNA:c.398G>C LMNA:c.398G>C LOVD substitution exon 1 LMNA:c.398G>T LMNA:c.398G>T LOVD substitution exon 1 LMNA:c.3G>T LMNA:c.3G>T LOVD substitution exon 1 LMNA:c.405_425dup LMNA:c.405_425dup LOVD duplication exon 1 LMNA:c.407A>G LMNA:c.407A>G LOVD substitution exon 1 LMNA:c.412G>A LMNA:c.412G>A LOVD substitution exon 1 LMNA:c.419T>C LMNA:c.419T>C LOVD substitution exon 1 LMNA:c.419T>G LMNA:c.419T>G LOVD substitution exon 1 LMNA:c.428C>T LMNA:c.428C>T LOVD substitution exon 1 LMNA:c.433G>A LMNA:c.433G>A LOVD substitution exon 1 LMNA:c.448A>C LMNA:c.448A>C LOVD substitution exon 1 LMNA:c.471G>A LMNA:c.471G>A LOVD substitution exon 1 LMNA:c.481G>A LMNA:c.481G>A LOVD substitution exon 1 LMNA:c.497G>C LMNA:c.497G>C LOVD substitution exon 1 LMNA:c.513+175T>C LMNA:c.513+175T>C LOVD substitution intron 1 LMNA:c.513+9A>G LMNA:c.513+9A>G LOVD substitution intron 1 LMNA:c.513G>A LMNA:c.513G>A LOVD substitution exon 1 LMNA:c.51C>T LMNA:c.51C>T LOVD substitution exon 1 LMNA:c.556G>A LMNA:c.556G>A LOVD substitution exon 1 LMNA:c.568C>T LMNA:c.568C>T LOVD substitution exon 1 LMNA:c.569G>A LMNA:c.569G>A LOVD substitution exon 1 LMNA:c.583A>G LMNA:c.583A>G LOVD substitution exon 1 LMNA:c.585C>G LMNA:c.585C>G LOVD substitution exon 1 LMNA:c.588_596del LMNA:c.588_596del LOVD deletion exon 1 LMNA:c.5A>G LMNA:c.5A>G LOVD substitution exon 1 LMNA:c.607G>A LMNA:c.607G>A LOVD substitution exon 1 LMNA:c.608A>G LMNA:c.608A>G LOVD substitution exon 1 LMNA:c.612G>A LMNA:c.612G>A LOVD substitution exon 1 LMNA:c.624_626del LMNA:c.624_626del LOVD deletion exon 1 LMNA:c.626delA LMNA:c.626delA LOVD deletion exon 1 LMNA:c.629T>G LMNA:c.629T>G LOVD substitution exon 1 LMNA:c.639+1G>A LMNA:c.639+1G>A LOVD substitution intron 1 LMNA:c.639+56G>T LMNA:c.639+56G>T LOVD substitution intron 1 LMNA:c.639+73C>T LMNA:c.639+73C>T LOVD substitution intron 1 LMNA:c.640-10A>C LMNA:c.640-10A>C LOVD substitution intron 1 LMNA:c.640-10A>G LMNA:c.640-10A>G LOVD substitution intron 1 LMNA:c.644T>C LMNA:c.644T>C LOVD substitution exon 1 LMNA:c.65C>T LMNA:c.65C>T LOVD substitution exon 1 LMNA:c.664C>T LMNA:c.664C>T LOVD substitution exon 1 LMNA:c.665A>C LMNA:c.665A>C LOVD substitution exon 1 LMNA:c.673C>T LMNA:c.673C>T LOVD substitution exon 1 LMNA:c.688G>A LMNA:c.688G>A LOVD substitution exon 1 LMNA:c.691A>C LMNA:c.691A>C LOVD substitution exon 1 LMNA:c.694G>A LMNA:c.694G>A LOVD substitution exon 1 LMNA:c.695G>A LMNA:c.695G>A LOVD substitution exon 1 LMNA:c.700C>T LMNA:c.700C>T LOVD substitution exon 1 LMNA:c.73C>G LMNA:c.73C>G LOVD substitution exon 1 LMNA:c.743T>C LMNA:c.743T>C LOVD substitution exon 1 LMNA:c.745C>T LMNA:c.745C>T LOVD substitution exon 1 LMNA:c.746G>A LMNA:c.746G>A LOVD substitution exon 1 LMNA:c.74G>C LMNA:c.74G>C LOVD substitution exon 1 LMNA:c.775T>G LMNA:c.775T>G LOVD substitution exon 1 LMNA:c.777T>A LMNA:c.777T>A LOVD substitution exon 1 LMNA:c.77T>G LMNA:c.77T>G LOVD substitution exon 1 LMNA:c.780G>C LMNA:c.780G>C LOVD substitution exon 1 LMNA:c.781_783del LMNA:c.781_783del LOVD deletion exon 1 LMNA:c.781_783delins15 LMNA:c.781_783delins15 LOVD complex exon 1 LMNA:c.784G>A LMNA:c.784G>A LOVD substitution exon 1 LMNA:c.788T>C LMNA:c.788T>C LOVD substitution exon 1 LMNA:c.799T>C LMNA:c.799T>C LOVD substitution exon 1 LMNA:c.800A>G LMNA:c.800A>G LOVD substitution exon 1 LMNA:c.80C>T LMNA:c.80C>T LOVD substitution exon 1 LMNA:c.810+13G>T LMNA:c.810+13G>T LOVD substitution intron 1 LMNA:c.810+1G>T LMNA:c.810+1G>T LOVD substitution intron 1 LMNA:c.810+61C>T LMNA:c.810+61C>T LOVD substitution intron 1 LMNA:c.811-10T>A LMNA:c.811-10T>A LOVD substitution intron 1 LMNA:c.811-13T>A LMNA:c.811-13T>A LOVD substitution intron 1 LMNA:c.812T>C LMNA:c.812T>C LOVD substitution exon 1 LMNA:c.82C>T LMNA:c.82C>T LOVD substitution exon 1 LMNA:c.832G>A LMNA:c.832G>A LOVD substitution exon 1 LMNA:c.832G>C LMNA:c.832G>C LOVD substitution exon 1 LMNA:c.83G>A LMNA:c.83G>A LOVD substitution exon 1 LMNA:c.859delG LMNA:c.859delG LOVD deletion exon 1 LMNA:c.861T>C LMNA:c.861T>C LOVD substitution exon 1 LMNA:c.864_867del LMNA:c.864_867del LOVD deletion exon 1 LMNA:c.881A>C LMNA:c.881A>C LOVD substitution exon 1 LMNA:c.883T>C LMNA:c.883T>C LOVD substitution exon 1 LMNA:c.892C>T LMNA:c.892C>T LOVD substitution exon 1 LMNA:c.895A>G LMNA:c.895A>G LOVD substitution exon 1 LMNA:c.899A>G LMNA:c.899A>G LOVD substitution exon 1 LMNA:c.908_909del LMNA:c.908_909del LOVD deletion exon 1 LMNA:c.936+12C>T LMNA:c.936+12C>T LOVD substitution intron 1 LMNA:c.936+1G>T LMNA:c.936+1G>T LOVD substitution intron 1 LMNA:c.936G>C LMNA:c.936G>C LOVD substitution exon 1 LMNA:c.937-83G>T LMNA:c.937-83G>T LOVD substitution intron 1 LMNA:c.949G>A LMNA:c.949G>A LOVD substitution exon 1 LMNA:c.94_96del LMNA:c.94_96del LOVD deletion exon 1 LMNA:c.952G>A LMNA:c.952G>A LOVD substitution exon 1 LMNA:c.960delT LMNA:c.960delT LOVD deletion exon 1 LMNA:c.961C>T LMNA:c.961C>T LOVD substitution exon 1 LMNA:c.976T>A LMNA:c.976T>A LOVD substitution exon 1 LMNA:c.98A>G LMNA:c.98A>G LOVD substitution exon 1 LMNA:c.992G>A LMNA:c.992G>A LOVD substitution exon 1 LMNA:c.99G>T LMNA:c.99G>T LOVD substitution exon 1 MSTN:c.(*1274G>A) MSTN:c.(*1274G>A) LOVD substitution not within known transcription unit 1 MSTN:c.(669_680del) MSTN:c.(669_680del) LOVD deletion exon 1 MSTN:c.(818_828del) MSTN:c.(818_828del) LOVD deletion exon 1 MSTN:c.(871G>T) MSTN:c.(871G>T) LOVD substitution exon 1 MSTN:c.(939_940del) MSTN:c.(939_940del) LOVD deletion exon 1 MSTN:c.*1136_*1137del MSTN:c.*1136_*1137del LOVD deletion not within known transcription unit 1 MSTN:c.-335G>A MSTN:c.-335G>A LOVD substitution not within known transcription unit 1 MSTN:c.-762A>G MSTN:c.-762A>G LOVD substitution not within known transcription unit 1 MSTN:c.163G>A MSTN:c.163G>A LOVD substitution exon 1 MSTN:c.180C>T MSTN:c.180C>T LOVD substitution exon 1 MSTN:c.194G>A MSTN:c.194G>A LOVD substitution exon 1 MSTN:c.283G>C MSTN:c.283G>C LOVD substitution exon 1 MSTN:c.306C>T MSTN:c.306C>T LOVD substitution exon 1 MSTN:c.307G>A MSTN:c.307G>A LOVD substitution exon 1 MSTN:c.373+5G>A MSTN:c.373+5G>A LOVD substitution intron 1 MSTN:c.373+90delA MSTN:c.373+90delA LOVD deletion intron 1 MSTN:c.386T>G MSTN:c.386T>G LOVD substitution exon 1 MSTN:c.458A>G MSTN:c.458A>G LOVD substitution exon 1 MSTN:c.466C>A MSTN:c.466C>A LOVD substitution exon 1 MSTN:c.490G>A MSTN:c.490G>A LOVD substitution exon 1 MSTN:c.554G>C MSTN:c.554G>C LOVD substitution exon 1 MSTN:c.592C>G MSTN:c.592C>G LOVD substitution exon 1 MSTN:c.674T>C MSTN:c.674T>C LOVD substitution exon 1 MSTN:c.747+8A>G MSTN:c.747+8A>G LOVD substitution intron 1 MTM1:c.-164C>T MTM1:c.-164C>T LOVD substitution not within known transcription unit 1 MTM1:c.1015dupT MTM1:c.1015dupT LOVD duplication exon 1 MTM1:c.1037G>C MTM1:c.1037G>C LOVD substitution exon 1 MTM1:c.1038G>T MTM1:c.1038G>T LOVD substitution exon 1 MTM1:c.1054-1G>T MTM1:c.1054-1G>T LOVD substitution intron 1 MTM1:c.1067G>A MTM1:c.1067G>A LOVD substitution exon 1 MTM1:c.107delC MTM1:c.107delC LOVD deletion exon 1 MTM1:c.1083dupA MTM1:c.1083dupA LOVD duplication exon 1 MTM1:c.1088_1089delAA MTM1:c.1088_1089delAA LOVD deletion exon 1 MTM1:c.1091T>G MTM1:c.1091T>G LOVD substitution exon 1 MTM1:c.1093dupT MTM1:c.1093dupT LOVD duplication exon 1 MTM1:c.1097C>G MTM1:c.1097C>G LOVD substitution exon 1 MTM1:c.109C>T MTM1:c.109C>T LOVD substitution exon 1 MTM1:c.1120C>G MTM1:c.1120C>G LOVD substitution exon 1 MTM1:c.1127G>A MTM1:c.1127G>A LOVD substitution exon 1 MTM1:c.1132G>A MTM1:c.1132G>A LOVD substitution exon 1 MTM1:c.1133G>A MTM1:c.1133G>A LOVD substitution exon 1 MTM1:c.1134_1137dupATGG MTM1:c.1134_1137dupATGG LOVD duplication exon 1 MTM1:c.1137G>A MTM1:c.1137G>A LOVD substitution exon 1 MTM1:c.1147_1148insT MTM1:c.1147_1148insT LOVD insertion exon 1 MTM1:c.1160C>A MTM1:c.1160C>A LOVD substitution exon 1 MTM1:c.1160C>T MTM1:c.1160C>T LOVD substitution exon 1 MTM1:c.1166C>A MTM1:c.1166C>A LOVD substitution exon 1 MTM1:c.1172T>C MTM1:c.1172T>C LOVD substitution exon 1 MTM1:c.1177_1180dup MTM1:c.1177_1180dup LOVD duplication exon 1 MTM1:c.1190A>G MTM1:c.1190A>G LOVD substitution exon 1 MTM1:c.1204G>A MTM1:c.1204G>A LOVD substitution exon 1 MTM1:c.1205G>C MTM1:c.1205G>C LOVD substitution exon 1 MTM1:c.1205G>T MTM1:c.1205G>T LOVD substitution exon 1 MTM1:c.1206delG MTM1:c.1206delG LOVD deletion exon 1 MTM1:c.1210G>A MTM1:c.1210G>A LOVD substitution exon 1 MTM1:c.1217T>C MTM1:c.1217T>C LOVD substitution exon 1 MTM1:c.1223A>C MTM1:c.1223A>C LOVD substitution exon 1 MTM1:c.1228G>A MTM1:c.1228G>A LOVD substitution exon 1 MTM1:c.1233G>C MTM1:c.1233G>C LOVD substitution exon 1 MTM1:c.1234A>G MTM1:c.1234A>G LOVD substitution exon 1 MTM1:c.1241T>C MTM1:c.1241T>C LOVD substitution exon 1 MTM1:c.1244G>T MTM1:c.1244G>T LOVD substitution exon 1 MTM1:c.1247A>G MTM1:c.1247A>G LOVD substitution exon 1 MTM1:c.1254T>C MTM1:c.1254T>C LOVD substitution exon 1 MTM1:c.1260+17A>G MTM1:c.1260+17A>G LOVD substitution intron 1 MTM1:c.1260+1G>C MTM1:c.1260+1G>C LOVD substitution intron 1 MTM1:c.1260+3G>A MTM1:c.1260+3G>A LOVD substitution intron 1 MTM1:c.1261-10A>G MTM1:c.1261-10A>G LOVD substitution intron 1 MTM1:c.1261C>T MTM1:c.1261C>T LOVD substitution exon 1 MTM1:c.1262G>A MTM1:c.1262G>A LOVD substitution exon 1 MTM1:c.1291G>A MTM1:c.1291G>A LOVD substitution exon 1 MTM1:c.1297G>A MTM1:c.1297G>A LOVD substitution exon 1 MTM1:c.1306_1308del MTM1:c.1306_1308del LOVD deletion exon 1 MTM1:c.1314dupT MTM1:c.1314dupT LOVD duplication exon 1 MTM1:c.1331G>A MTM1:c.1331G>A LOVD substitution exon 1 MTM1:c.1333_1345del MTM1:c.1333_1345del LOVD deletion exon 1 MTM1:c.1338G>A MTM1:c.1338G>A LOVD substitution exon 1 MTM1:c.1346C>G MTM1:c.1346C>G LOVD substitution exon 1 MTM1:c.1353+1G>A MTM1:c.1353+1G>A LOVD substitution intron 1 MTM1:c.1353+1G>C MTM1:c.1353+1G>C LOVD substitution intron 1 MTM1:c.1353G>A MTM1:c.1353G>A LOVD substitution exon 1 MTM1:c.1354-1G>A MTM1:c.1354-1G>A LOVD substitution intron 1 MTM1:c.1354-26_1467+92del MTM1:c.1354-26_1467+92del LOVD deletion intron 1 MTM1:c.136+1G>A MTM1:c.136+1G>A LOVD substitution intron 1 MTM1:c.136+1G>C MTM1:c.136+1G>C LOVD substitution intron 1 MTM1:c.137-11dupT MTM1:c.137-11dupT LOVD duplication intron 1 MTM1:c.137-11T>A MTM1:c.137-11T>A LOVD substitution intron 1 MTM1:c.137-19_137-16del MTM1:c.137-19_137-16del LOVD deletion intron 1 MTM1:c.137-2A>T MTM1:c.137-2A>T LOVD substitution intron 1 MTM1:c.137-3T>A MTM1:c.137-3T>A LOVD substitution intron 1 MTM1:c.137-3_137del MTM1:c.137-3_137del LOVD deletion intron 1 MTM1:c.137-4A>G MTM1:c.137-4A>G LOVD substitution intron 1 MTM1:c.137-7T>G MTM1:c.137-7T>G LOVD substitution intron 1 MTM1:c.137-?_231+?del MTM1:c.137-?_231+?del LOVD deletion not within known transcription unit 0 MTM1:c.139_141del MTM1:c.139_141del LOVD deletion exon 1 MTM1:c.1406A>C MTM1:c.1406A>C LOVD substitution exon 1 MTM1:c.1409T>C MTM1:c.1409T>C LOVD substitution exon 1 MTM1:c.141_144delAGAA MTM1:c.141_144delAGAA LOVD deletion exon 1 MTM1:c.1420C>T MTM1:c.1420C>T LOVD substitution exon 1 MTM1:c.142dupG MTM1:c.142dupG LOVD duplication exon 1 MTM1:c.142G>T MTM1:c.142G>T LOVD substitution exon 1 MTM1:c.142_143delGA MTM1:c.142_143delGA LOVD deletion exon 1 MTM1:c.1433_1436delTCTT MTM1:c.1433_1436delTCTT LOVD deletion exon 1 MTM1:c.1434_1436delCTT MTM1:c.1434_1436delCTT LOVD deletion exon 1 MTM1:c.1441A>T MTM1:c.1441A>T LOVD substitution exon 1 MTM1:c.1449delA MTM1:c.1449delA LOVD deletion exon 1 MTM1:c.1456C>T MTM1:c.1456C>T LOVD substitution exon 1 MTM1:c.145G>T MTM1:c.145G>T LOVD substitution exon 1 MTM1:c.1464_1467delACAG MTM1:c.1464_1467delACAG LOVD deletion exon 1 MTM1:c.1467+1delG MTM1:c.1467+1delG LOVD deletion intron 1 MTM1:c.1467+1G>A MTM1:c.1467+1G>A LOVD substitution intron 1 MTM1:c.1467+5G>A MTM1:c.1467+5G>A LOVD substitution intron 1 MTM1:c.1492T>C MTM1:c.1492T>C LOVD substitution exon 1 MTM1:c.1493T>A MTM1:c.1493T>A LOVD substitution exon 1 MTM1:c.1495T>C MTM1:c.1495T>C LOVD substitution exon 1 MTM1:c.1530_1541del MTM1:c.1530_1541del LOVD deletion exon 1 MTM1:c.1549G>T MTM1:c.1549G>T LOVD substitution exon 1 MTM1:c.1558C>T MTM1:c.1558C>T LOVD substitution exon 1 MTM1:c.1569T>A MTM1:c.1569T>A LOVD substitution exon 1 MTM1:c.1578dupC MTM1:c.1578dupC LOVD duplication exon 1 MTM1:c.1594delG MTM1:c.1594delG LOVD deletion exon 1 MTM1:c.1611C>G MTM1:c.1611C>G LOVD substitution exon 1 MTM1:c.1644+1dupG MTM1:c.1644+1dupG LOVD duplication intron 1 MTM1:c.1644+3_1644+6delAAGT MTM1:c.1644+3_1644+6delAAGT LOVD deletion intron 1 MTM1:c.1644+8_1644+11delAAGT MTM1:c.1644+8_1644+11delAAGT LOVD deletion intron 1 MTM1:c.1701C>T MTM1:c.1701C>T LOVD substitution exon 1 MTM1:c.1702A>G MTM1:c.1702A>G LOVD substitution exon 1 MTM1:c.1792delC MTM1:c.1792delC LOVD deletion exon 1 MTM1:c.1792dupC MTM1:c.1792dupC LOVD duplication exon 1 MTM1:c.181G>T MTM1:c.181G>T LOVD substitution exon 1 MTM1:c.184A>T MTM1:c.184A>T LOVD substitution exon 1 MTM1:c.1A>G MTM1:c.1A>G LOVD substitution exon 1 MTM1:c.202T>G MTM1:c.202T>G LOVD substitution exon 1 MTM1:c.205C>A MTM1:c.205C>A LOVD substitution exon 1 MTM1:c.205C>T MTM1:c.205C>T LOVD substitution exon 1 MTM1:c.205_206delinsAACT MTM1:c.205_206delinsAACT LOVD complex exon 1 MTM1:c.206G>C MTM1:c.206G>C LOVD substitution exon 1 MTM1:c.208C>T MTM1:c.208C>T LOVD substitution exon 1 MTM1:c.213_216delTTTA MTM1:c.213_216delTTTA LOVD deletion exon 1 MTM1:c.230delC MTM1:c.230delC LOVD deletion exon 1 MTM1:c.232-1G>A MTM1:c.232-1G>A LOVD substitution intron 1 MTM1:c.232-28C>T MTM1:c.232-28C>T LOVD substitution intron 1 MTM1:c.232-2A>C MTM1:c.232-2A>C LOVD substitution intron 1 MTM1:c.232-3C>A MTM1:c.232-3C>A LOVD substitution intron 1 MTM1:c.232-5_239delinsGTAA MTM1:c.232-5_239delinsGTAA LOVD complex intron 1 MTM1:c.232-?_444+?del MTM1:c.232-?_444+?del LOVD deletion not within known transcription unit 0 MTM1:c.232G>T MTM1:c.232G>T LOVD substitution exon 1 MTM1:c.260T>C MTM1:c.260T>C LOVD substitution exon 1 MTM1:c.27T>A MTM1:c.27T>A LOVD substitution exon 1 MTM1:c.286dupA MTM1:c.286dupA LOVD duplication exon 1 MTM1:c.296_297dupCG MTM1:c.296_297dupCG LOVD duplication exon 1 MTM1:c.2T>G MTM1:c.2T>G LOVD substitution exon 1 MTM1:c.321T>A MTM1:c.321T>A LOVD substitution exon 1 MTM1:c.32C>G MTM1:c.32C>G LOVD substitution exon 1 MTM1:c.342+5G>A MTM1:c.342+5G>A LOVD substitution intron 1 MTM1:c.342_342+4delAGTAA MTM1:c.342_342+4delAGTAA LOVD deletion not within known transcription unit 1 MTM1:c.343-2A>C MTM1:c.343-2A>C LOVD substitution intron 1 MTM1:c.343-?_1260+?del MTM1:c.343-?_1260+?del LOVD deletion not within known transcription unit 0 MTM1:c.377_378insT MTM1:c.377_378insT LOVD insertion exon 1 MTM1:c.385dupA? MTM1:c.385dupA? LOVD duplication exon 0 MTM1:c.391delA MTM1:c.391delA LOVD deletion exon 1 MTM1:c.397_398delAT MTM1:c.397_398delAT LOVD deletion exon 1 MTM1:c.417A>G MTM1:c.417A>G LOVD substitution exon 1 MTM1:c.426delT MTM1:c.426delT LOVD deletion exon 1 MTM1:c.431delT MTM1:c.431delT LOVD deletion exon 1 MTM1:c.444G>C MTM1:c.444G>C LOVD substitution exon 1 MTM1:c.445-1_445insGAAA MTM1:c.445-1_445insGAAA LOVD insertion intron 1 MTM1:c.445-33C>T MTM1:c.445-33C>T LOVD substitution intron 1 MTM1:c.445-49_445-4del MTM1:c.445-49_445-4del LOVD deletion intron 1 MTM1:c.445-?_678+?del MTM1:c.445-?_678+?del LOVD deletion not within known transcription unit 0 MTM1:c.461_477delinsAA MTM1:c.461_477delinsAA LOVD complex exon 1 MTM1:c.465delT MTM1:c.465delT LOVD deletion exon 1 MTM1:c.469delG MTM1:c.469delG LOVD deletion exon 1 MTM1:c.469G>A MTM1:c.469G>A LOVD substitution exon 1 MTM1:c.481delG MTM1:c.481delG LOVD deletion exon 1 MTM1:c.48_49insA MTM1:c.48_49insA LOVD insertion exon 1 MTM1:c.49G>T MTM1:c.49G>T LOVD substitution exon 1 MTM1:c.524_525dupGG MTM1:c.524_525dupGG LOVD duplication exon 1 MTM1:c.526C>T MTM1:c.526C>T LOVD substitution exon 1 MTM1:c.528+1G>A MTM1:c.528+1G>A LOVD substitution intron 1 MTM1:c.529-909A>G MTM1:c.529-909A>G LOVD substitution intron 1 MTM1:c.534delG MTM1:c.534delG LOVD deletion exon 1 MTM1:c.535C>T MTM1:c.535C>T LOVD substitution exon 1 MTM1:c.539dupA MTM1:c.539dupA LOVD duplication exon 1 MTM1:c.540T>G MTM1:c.540T>G LOVD substitution exon 1 MTM1:c.550A>G MTM1:c.550A>G LOVD substitution exon 1 MTM1:c.551G>T MTM1:c.551G>T LOVD substitution exon 1 MTM1:c.557C>T MTM1:c.557C>T LOVD substitution exon 1 MTM1:c.560_561delTT MTM1:c.560_561delTT LOVD deletion exon 1 MTM1:c.561T>C MTM1:c.561T>C LOVD substitution exon 1 MTM1:c.566A>G MTM1:c.566A>G LOVD substitution exon 1 MTM1:c.566delA MTM1:c.566delA LOVD deletion exon 1 MTM1:c.575A>G MTM1:c.575A>G LOVD substitution exon 1 MTM1:c.590C>T MTM1:c.590C>T LOVD substitution exon 1 MTM1:c.591_594delTTAC MTM1:c.591_594delTTAC LOVD deletion exon 1 MTM1:c.592T>A MTM1:c.592T>A LOVD substitution exon 1 MTM1:c.592_594delinsAA MTM1:c.592_594delinsAA LOVD complex exon 1 MTM1:c.593dupA MTM1:c.593dupA LOVD duplication exon 1 MTM1:c.594C>A MTM1:c.594C>A LOVD substitution exon 1 MTM1:c.595C>A MTM1:c.595C>A LOVD substitution exon 1 MTM1:c.595C>T MTM1:c.595C>T LOVD substitution exon 1 MTM1:c.596C>T MTM1:c.596C>T LOVD substitution exon 1 MTM1:c.600delT MTM1:c.600delT LOVD deletion exon 1 MTM1:c.605delT MTM1:c.605delT LOVD deletion exon 1 MTM1:c.605T>C MTM1:c.605T>C LOVD substitution exon 1 MTM1:c.614C>T MTM1:c.614C>T LOVD substitution exon 1 MTM1:c.63+1G>A MTM1:c.63+1G>A LOVD substitution intron 1 MTM1:c.63+2T>C MTM1:c.63+2T>C LOVD substitution intron 1 MTM1:c.63+2T>G MTM1:c.63+2T>G LOVD substitution intron 1 MTM1:c.63+834_1645-2104del MTM1:c.63+834_1645-2104del LOVD deletion intron 1 MTM1:c.64-14T>C MTM1:c.64-14T>C LOVD substitution intron 1 MTM1:c.64-2A>G MTM1:c.64-2A>G LOVD substitution intron 1 MTM1:c.64-50A>T MTM1:c.64-50A>T LOVD substitution intron 1 MTM1:c.64-50_64-49del MTM1:c.64-50_64-49del LOVD deletion intron 1 MTM1:c.649dupG MTM1:c.649dupG LOVD duplication exon 1 MTM1:c.664C>T MTM1:c.664C>T LOVD substitution exon 1 MTM1:c.670C>T MTM1:c.670C>T LOVD substitution exon 1 MTM1:c.674T>C MTM1:c.674T>C LOVD substitution exon 1 MTM1:c.676C>A MTM1:c.676C>A LOVD substitution exon 1 MTM1:c.678+1delG MTM1:c.678+1delG LOVD deletion intron 1 MTM1:c.678+1G>A MTM1:c.678+1G>A LOVD substitution intron 1 MTM1:c.678+1G>C MTM1:c.678+1G>C LOVD substitution intron 1 MTM1:c.678+2T>A MTM1:c.678+2T>A LOVD substitution intron 1 MTM1:c.679-1G>A MTM1:c.679-1G>A LOVD substitution intron 1 MTM1:c.679-2A>G MTM1:c.679-2A>G LOVD substitution intron 1 MTM1:c.679-?_867+?del MTM1:c.679-?_867+?del LOVD deletion not within known transcription unit 0 MTM1:c.679G>A MTM1:c.679G>A LOVD substitution exon 1 MTM1:c.683T>C MTM1:c.683T>C LOVD substitution exon 1 MTM1:c.684G>C MTM1:c.684G>C LOVD substitution exon 1 MTM1:c.685delT MTM1:c.685delT LOVD deletion exon 1 MTM1:c.685T>C MTM1:c.685T>C LOVD substitution exon 1 MTM1:c.688T>A MTM1:c.688T>A LOVD substitution exon 1 MTM1:c.689G>A MTM1:c.689G>A LOVD substitution exon 1 MTM1:c.690G>T MTM1:c.690G>T LOVD substitution exon 1 MTM1:c.695A>G MTM1:c.695A>G LOVD substitution exon 1 MTM1:c.703_704delAA MTM1:c.703_704delAA LOVD deletion exon 1 MTM1:c.709dupA MTM1:c.709dupA LOVD duplication exon 1 MTM1:c.709_710delAC MTM1:c.709_710delAC LOVD deletion exon 1 MTM1:c.70C>T MTM1:c.70C>T LOVD substitution exon 1 MTM1:c.712dupG MTM1:c.712dupG LOVD duplication exon 1 MTM1:c.721C>T MTM1:c.721C>T LOVD substitution exon 1 MTM1:c.722G>T MTM1:c.722G>T LOVD substitution exon 1 MTM1:c.757C>T MTM1:c.757C>T LOVD substitution exon 1 MTM1:c.765delA MTM1:c.765delA LOVD deletion exon 1 MTM1:c.779A>C MTM1:c.779A>C LOVD substitution exon 1 MTM1:c.788_789dupTT MTM1:c.788_789dupTT LOVD duplication exon 1 MTM1:c.791T>G MTM1:c.791T>G LOVD substitution exon 1 MTM1:c.796G>T MTM1:c.796G>T LOVD substitution exon 1 MTM1:c.836C>G MTM1:c.836C>G LOVD substitution exon 1 MTM1:c.836delC MTM1:c.836delC LOVD deletion exon 1 MTM1:c.85C>T MTM1:c.85C>T LOVD substitution exon 1 MTM1:c.867+1G>A MTM1:c.867+1G>A LOVD substitution intron 1 MTM1:c.867+1G>C MTM1:c.867+1G>C LOVD substitution intron 1 MTM1:c.867+2T>A MTM1:c.867+2T>A LOVD substitution intron 1 MTM1:c.868-13T>A MTM1:c.868-13T>A LOVD substitution intron 1 MTM1:c.868-?_1053+?del MTM1:c.868-?_1053+?del LOVD deletion not within known transcription unit 0 MTM1:c.875dupG MTM1:c.875dupG LOVD duplication exon 1 MTM1:c.880_882delGGA MTM1:c.880_882delGGA LOVD deletion exon 1 MTM1:c.885dupT MTM1:c.885dupT LOVD duplication exon 1 MTM1:c.899C>T MTM1:c.899C>T LOVD substitution exon 1 MTM1:c.924_926delCTT MTM1:c.924_926delCTT LOVD deletion exon 1 MTM1:c.928_935delGACATTCA MTM1:c.928_935delGACATTCA LOVD deletion exon 1 MTM1:c.950T>G MTM1:c.950T>G LOVD substitution exon 1 MTM1:c.961_962del MTM1:c.961_962del LOVD deletion exon 1 MTM1:c.969dupA MTM1:c.969dupA LOVD duplication exon 1 MYL2:c.141C>A MYL2:c.141C>A LOVD substitution exon 1 MYL2:c.173G>A MYL2:c.173G>A LOVD substitution exon 1 MYL2:c.184A>G MYL2:c.184A>G LOVD substitution exon 1 MYL2:c.283C>G MYL2:c.283C>G LOVD substitution exon 1 MYL2:c.354-2A>G MYL2:c.354-2A>G LOVD substitution intron 1 MYL2:c.37G>A MYL2:c.37G>A LOVD substitution exon 1 MYL2:c.403-1G>C MYL2:c.403-1G>C LOVD substitution intron 1 MYL2:c.497A>T MYL2:c.497A>T LOVD substitution exon 1 MYL2:c.52T>C MYL2:c.52T>C LOVD substitution exon 1 MYL2:c.64G>A MYL2:c.64G>A LOVD substitution exon 1 MYOT:c.(170C>T) MYOT:c.(170C>T) LOVD substitution exon 1 MYOT:c.*98G>A MYOT:c.*98G>A LOVD substitution not within known transcription unit 1 MYOT:c.-124T>G MYOT:c.-124T>G LOVD substitution not within known transcription unit 1 MYOT:c.-251A>G MYOT:c.-251A>G LOVD substitution not within known transcription unit 1 MYOT:c.106A>G MYOT:c.106A>G LOVD substitution exon 1 MYOT:c.116C>T MYOT:c.116C>T LOVD substitution exon 1 MYOT:c.1214G>A MYOT:c.1214G>A LOVD substitution exon 1 MYOT:c.1325-47T>C MYOT:c.1325-47T>C LOVD substitution intron 1 MYOT:c.1413G>T MYOT:c.1413G>T LOVD substitution exon 1 MYOT:c.149A>G MYOT:c.149A>G LOVD substitution exon 1 MYOT:c.164C>T MYOT:c.164C>T LOVD substitution exon 1 MYOT:c.170C>T MYOT:c.170C>T LOVD substitution exon 1 MYOT:c.179C>G MYOT:c.179C>G LOVD substitution exon 1 MYOT:c.179C>T MYOT:c.179C>T LOVD substitution exon 1 MYOT:c.220C>A MYOT:c.220C>A LOVD substitution exon 1 MYOT:c.284G>T MYOT:c.284G>T LOVD substitution exon 1 MYOT:c.343G>A MYOT:c.343G>A LOVD substitution exon 1 MYOT:c.482T>G MYOT:c.482T>G LOVD substitution exon 1 NEB:c.10201T>A NEB:c.10201T>A LOVD substitution exon 1 NEB:c.10809G>C NEB:c.10809G>C LOVD substitution exon 1 NEB:c.11083T>C NEB:c.11083T>C LOVD substitution exon 1 NEB:c.1152+1G>A NEB:c.1152+1G>A LOVD substitution intron 1 NEB:c.11585_11586delinsC NEB:c.11585_11586delinsC LOVD complex exon 1 NEB:c.11910+5G>C NEB:c.11910+5G>C LOVD substitution intron 1 NEB:c.12018+1G>A NEB:c.12018+1G>A LOVD substitution intron 1 NEB:c.12330+5G>A NEB:c.12330+5G>A LOVD substitution intron 1 NEB:c.12639+1G>A NEB:c.12639+1G>A LOVD substitution intron 1 NEB:c.12905A>T NEB:c.12905A>T LOVD substitution exon 1 NEB:c.1657_1665delinsTTTATAAT NEB:c.1657_1665delinsTTTATAAT LOVD complex exon 1 NEB:c.16705-18C>T NEB:c.16705-18C>T LOVD substitution intron 1 NEB:c.17013+1G>T NEB:c.17013+1G>T LOVD substitution intron 1 NEB:c.17118+1G>A NEB:c.17118+1G>A LOVD substitution intron 1 NEB:c.18676C>T NEB:c.18676C>T LOVD substitution exon 1 NEB:c.19048_19057del NEB:c.19048_19057del LOVD deletion exon 1 NEB:c.19097G>T NEB:c.19097G>T LOVD substitution exon 1 NEB:c.19913G>C NEB:c.19913G>C LOVD substitution exon 1 NEB:c.20975_20976del NEB:c.20975_20976del LOVD deletion exon 1 NEB:c.21790G>C NEB:c.21790G>C LOVD substitution exon 1 NEB:c.21840+5_21840+13del NEB:c.21840+5_21840+13del LOVD deletion intron 1 NEB:c.21898C>T NEB:c.21898C>T LOVD substitution exon 1 NEB:c.21945+1G>T NEB:c.21945+1G>T LOVD substitution intron 1 NEB:c.2212-1G>C NEB:c.2212-1G>C LOVD substitution intron 1 NEB:c.22249A>C NEB:c.22249A>C LOVD substitution exon 1 NEB:c.22266+1_22266+9del NEB:c.22266+1_22266+9del LOVD deletion intron 1 NEB:c.22275C>G NEB:c.22275C>G LOVD substitution exon 1 NEB:c.22584G>C NEB:c.22584G>C LOVD substitution exon 1 NEB:c.22746delG NEB:c.22746delG LOVD deletion exon 1 NEB:c.22800+2T>C NEB:c.22800+2T>C LOVD substitution intron 1 NEB:c.22933G>T NEB:c.22933G>T LOVD substitution exon 1 NEB:c.23011-2A>G NEB:c.23011-2A>G LOVD substitution intron 1 NEB:c.23122-21T>C NEB:c.23122-21T>C LOVD substitution intron 1 NEB:c.2319C>G NEB:c.2319C>G LOVD substitution exon 1 NEB:c.23245C>T NEB:c.23245C>T LOVD substitution exon 1 NEB:c.23372T>C NEB:c.23372T>C LOVD substitution exon 1 NEB:c.23383A>G NEB:c.23383A>G LOVD substitution exon 1 NEB:c.23500_23503dup NEB:c.23500_23503dup LOVD duplication exon 1 NEB:c.23521C>T NEB:c.23521C>T LOVD substitution exon 1 NEB:c.23855A>C NEB:c.23855A>C LOVD substitution exon 1 NEB:c.24218C>A NEB:c.24218C>A LOVD substitution exon 1 NEB:c.24283_24283del NEB:c.24283_24283del LOVD deletion exon 1 NEB:c.24285_24288dup NEB:c.24285_24288dup LOVD duplication exon 1 NEB:c.24294_24297dup NEB:c.24294_24297dup LOVD duplication exon 1 NEB:c.24372_24375dup NEB:c.24372_24375dup LOVD duplication exon 1 NEB:c.24458_24461dup NEB:c.24458_24461dup LOVD duplication exon 1 NEB:c.24473_24476dup NEB:c.24473_24476dup LOVD duplication exon 1 NEB:c.24493_24494del NEB:c.24493_24494del LOVD deletion exon 1 NEB:c.24500_24503dup NEB:c.24500_24503dup LOVD duplication exon 1 NEB:c.24792_24793del NEB:c.24792_24793del LOVD deletion exon 1 NEB:c.24840_24841delAG NEB:c.24840_24841delAG LOVD deletion exon 1 NEB:c.25200delT NEB:c.25200delT LOVD deletion exon 1 NEB:c.25205_25206del NEB:c.25205_25206del LOVD deletion exon 1 NEB:c.25241T>G NEB:c.25241T>G LOVD substitution exon 1 NEB:c.25459G>T NEB:c.25459G>T LOVD substitution exon 1 NEB:c.2784delT NEB:c.2784delT LOVD deletion exon 1 NEB:c.2835+5G>C NEB:c.2835+5G>C LOVD substitution intron 1 NEB:c.294+1G>A NEB:c.294+1G>A LOVD substitution intron 1 NEB:c.294+2T>C NEB:c.294+2T>C LOVD substitution intron 1 NEB:c.3191A>G NEB:c.3191A>G LOVD substitution exon 1 NEB:c.3255+1G>A NEB:c.3255+1G>A LOVD substitution intron 1 NEB:c.3255+1G>C NEB:c.3255+1G>C LOVD substitution intron 1 NEB:c.3255+1G>T NEB:c.3255+1G>T LOVD substitution intron 1 NEB:c.3255+2_3255+3insTT NEB:c.3255+2_3255+3insTT LOVD insertion intron 1 NEB:c.3390T>G NEB:c.3390T>G LOVD substitution exon 1 NEB:c.3473_3488del NEB:c.3473_3488del LOVD deletion exon 1 NEB:c.3987+1_3987+2inv NEB:c.3987+1_3987+2inv LOVD inversion intron 1 NEB:c.410A>G NEB:c.410A>G LOVD substitution exon 1 NEB:c.471delT NEB:c.471delT LOVD deletion exon 1 NEB:c.4834C>A NEB:c.4834C>A LOVD substitution exon 1 NEB:c.5343+5G>A NEB:c.5343+5G>A LOVD substitution intron 1 NEB:c.549C>A NEB:c.549C>A LOVD substitution exon 1 NEB:c.5555T>G NEB:c.5555T>G LOVD substitution exon 1 NEB:c.5567G>A NEB:c.5567G>A LOVD substitution exon 1 NEB:c.5971C>T NEB:c.5971C>T LOVD substitution exon 1 NEB:c.6069G>A NEB:c.6069G>A LOVD substitution exon 1 NEB:c.6075+3A>C NEB:c.6075+3A>C LOVD substitution intron 1 NEB:c.647delG NEB:c.647delG LOVD deletion exon 1 NEB:c.7228-1G>T NEB:c.7228-1G>T LOVD substitution intron 1 NEB:c.7291G>A NEB:c.7291G>A LOVD substitution exon 1 NEB:c.7431+1916_7536+372del NEB:c.7431+1916_7536+372del LOVD deletion intron 1 NEB:c.7523_7526del NEB:c.7523_7526del LOVD deletion exon 1 NEB:c.78+1G>A NEB:c.78+1G>A LOVD substitution intron 1 NEB:c.8031_8041del NEB:c.8031_8041del LOVD deletion exon 1 NEB:c.8392_8395dup NEB:c.8392_8395dup LOVD duplication exon 1 NEB:c.8458_8459del NEB:c.8458_8459del LOVD deletion exon 1 NEB:c.928-1G>A NEB:c.928-1G>A LOVD substitution intron 1 NEB:c.9619-2A>G NEB:c.9619-2A>G LOVD substitution intron 1 PABPN1:c.12_23dup PABPN1:c.12_23dup LOVD duplication exon 1 PABPN1:c.12_26dup PABPN1:c.12_26dup LOVD duplication exon 1 PABPN1:c.15_23dup PABPN1:c.15_23dup LOVD duplication exon 1 PABPN1:c.15_26dup PABPN1:c.15_26dup LOVD duplication exon 1 PABPN1:c.15_32dup PABPN1:c.15_32dup LOVD duplication exon 1 PABPN1:c.18_23dup PABPN1:c.18_23dup LOVD duplication exon 1 PABPN1:c.18_26dup PABPN1:c.18_26dup LOVD duplication exon 1 PABPN1:c.18_29dup PABPN1:c.18_29dup LOVD duplication exon 1 PABPN1:c.18_32dup PABPN1:c.18_32dup LOVD duplication exon 1 PABPN1:c.21_23dup PABPN1:c.21_23dup LOVD duplication exon 1 PABPN1:c.21_26dup PABPN1:c.21_26dup LOVD duplication exon 1 PABPN1:c.21_32dup PABPN1:c.21_32dup LOVD duplication exon 1 PABPN1:c.35G>C PABPN1:c.35G>C LOVD substitution exon 1 PABPN1:c.3_23dup PABPN1:c.3_23dup LOVD duplication exon 1 PABPN1:c.6_23dup PABPN1:c.6_23dup LOVD duplication exon 1 PABPN1:c.6_26dup PABPN1:c.6_26dup LOVD duplication exon 1 PABPN1:c.9_23dup PABPN1:c.9_23dup LOVD duplication exon 1 PLEC:c.193+1705_193+1713del PLEC:c.193+1705_193+1713del LOVD deletion intron 1 POMGNT1:c.-11G>A POMGNT1:c.-11G>A LOVD substitution not within known transcription unit 1 POMGNT1:c.1011dupT POMGNT1:c.1011dupT LOVD duplication exon 1 POMGNT1:c.1100G>A POMGNT1:c.1100G>A LOVD substitution exon 1 POMGNT1:c.1111-23C>T POMGNT1:c.1111-23C>T LOVD substitution intron 1 POMGNT1:c.1274G>C POMGNT1:c.1274G>C LOVD substitution exon 1 POMGNT1:c.1279G>C POMGNT1:c.1279G>C LOVD substitution exon 1 POMGNT1:c.1285-2A>G POMGNT1:c.1285-2A>G LOVD substitution intron 1 POMGNT1:c.1324C>T POMGNT1:c.1324C>T LOVD substitution exon 1 POMGNT1:c.1325G>A POMGNT1:c.1325G>A LOVD substitution exon 1 POMGNT1:c.1350_1354del POMGNT1:c.1350_1354del LOVD deletion exon 1 POMGNT1:c.1425G>A POMGNT1:c.1425G>A LOVD substitution exon 1 POMGNT1:c.1462C>G POMGNT1:c.1462C>G LOVD substitution exon 1 POMGNT1:c.1469G>A POMGNT1:c.1469G>A LOVD substitution exon 1 POMGNT1:c.1478C>G POMGNT1:c.1478C>G LOVD substitution exon 1 POMGNT1:c.1510G>A POMGNT1:c.1510G>A LOVD substitution exon 1 POMGNT1:c.1539+1G>A POMGNT1:c.1539+1G>A LOVD substitution intron 1 POMGNT1:c.1539+1G>T POMGNT1:c.1539+1G>T LOVD substitution intron 1 POMGNT1:c.1540-2A>G POMGNT1:c.1540-2A>G LOVD substitution intron 1 POMGNT1:c.1649G>A POMGNT1:c.1649G>A LOVD substitution exon 1 POMGNT1:c.1666G>A POMGNT1:c.1666G>A LOVD substitution exon 1 POMGNT1:c.1719delC POMGNT1:c.1719delC LOVD deletion exon 1 POMGNT1:c.1738C>T POMGNT1:c.1738C>T LOVD substitution exon 1 POMGNT1:c.1769G>A POMGNT1:c.1769G>A LOVD substitution exon 1 POMGNT1:c.1785+2T>G POMGNT1:c.1785+2T>G LOVD substitution intron 1 POMGNT1:c.1785+31C>A POMGNT1:c.1785+31C>A LOVD substitution intron 1 POMGNT1:c.1814G>A POMGNT1:c.1814G>A LOVD substitution exon 1 POMGNT1:c.1832delT POMGNT1:c.1832delT LOVD deletion exon 1 POMGNT1:c.1867G>A POMGNT1:c.1867G>A LOVD substitution exon 1 POMGNT1:c.1876delG POMGNT1:c.1876delG LOVD deletion exon 1 POMGNT1:c.187C>T POMGNT1:c.187C>T LOVD substitution exon 1 POMGNT1:c.1895+1G>A POMGNT1:c.1895+1G>A LOVD substitution intron 1 POMGNT1:c.1895+1G>T POMGNT1:c.1895+1G>T LOVD substitution intron 1 POMGNT1:c.1895+30A>G POMGNT1:c.1895+30A>G LOVD substitution intron 1 POMGNT1:c.1895+5_1895+8del POMGNT1:c.1895+5_1895+8del LOVD deletion intron 1 POMGNT1:c.235+33T>G POMGNT1:c.235+33T>G LOVD substitution intron 1 POMGNT1:c.244C>T POMGNT1:c.244C>T LOVD substitution exon 1 POMGNT1:c.25dupC POMGNT1:c.25dupC LOVD duplication exon 1 POMGNT1:c.355-27C>T POMGNT1:c.355-27C>T LOVD substitution intron 1 POMGNT1:c.421-29_452del POMGNT1:c.421-29_452del LOVD deletion intron 1 POMGNT1:c.447delT POMGNT1:c.447delT LOVD deletion exon 1 POMGNT1:c.447dupT POMGNT1:c.447dupT LOVD duplication exon 1 POMGNT1:c.458C>G POMGNT1:c.458C>G LOVD substitution exon 1 POMGNT1:c.46C>T POMGNT1:c.46C>T LOVD substitution exon 1 POMGNT1:c.526A>C POMGNT1:c.526A>C LOVD substitution exon 1 POMGNT1:c.593delG POMGNT1:c.593delG LOVD deletion exon 1 POMGNT1:c.630G>T POMGNT1:c.630G>T LOVD substitution exon 1 POMGNT1:c.636C>T POMGNT1:c.636C>T LOVD substitution exon 1 POMGNT1:c.652+1G>A POMGNT1:c.652+1G>A LOVD substitution intron 1 POMGNT1:c.667G>A POMGNT1:c.667G>A LOVD substitution exon 1 POMGNT1:c.681A>G POMGNT1:c.681A>G LOVD substitution exon 1 POMGNT1:c.794G>A POMGNT1:c.794G>A LOVD substitution exon 1 POMGNT1:c.805_807del POMGNT1:c.805_807del LOVD deletion exon 1 POMGNT1:c.806G>A POMGNT1:c.806G>A LOVD substitution exon 1 POMGNT1:c.879+5G>A POMGNT1:c.879+5G>A LOVD substitution intron 1 POMGNT1:c.879+5G>T POMGNT1:c.879+5G>T LOVD substitution intron 1 POMGNT1:c.908C>T POMGNT1:c.908C>T LOVD substitution exon 1 POMGNT1:c.932G>A POMGNT1:c.932G>A LOVD substitution exon 1 POMGNT1:c.956T>C POMGNT1:c.956T>C LOVD substitution exon 1 POMGNT1:c.982dupG POMGNT1:c.982dupG LOVD duplication exon 1 POMT1:c.(*2A>G) POMT1:c.(*2A>G) LOVD substitution not within known transcription unit 1 POMT1:c.*41T>C POMT1:c.*41T>C LOVD substitution not within known transcription unit 1 POMT1:c.*5A>G POMT1:c.*5A>G LOVD substitution not within known transcription unit 1 POMT1:c.-6T>G POMT1:c.-6T>G LOVD substitution not within known transcription unit 1 POMT1:c.1052+49G>A POMT1:c.1052+49G>A LOVD substitution intron 1 POMT1:c.1053-102G>A POMT1:c.1053-102G>A LOVD substitution intron 1 POMT1:c.1053-113C>G POMT1:c.1053-113C>G LOVD substitution intron 1 POMT1:c.1053-39C>T POMT1:c.1053-39C>T LOVD substitution intron 1 POMT1:c.1056T>A POMT1:c.1056T>A LOVD substitution exon 1 POMT1:c.1081C>T POMT1:c.1081C>T LOVD substitution exon 1 POMT1:c.1097G>A POMT1:c.1097G>A LOVD substitution exon 1 POMT1:c.1104delC POMT1:c.1104delC LOVD deletion exon 1 POMT1:c.1113C>T POMT1:c.1113C>T LOVD substitution exon 1 POMT1:c.1148+16G>A POMT1:c.1148+16G>A LOVD substitution intron 1 POMT1:c.1148+45C>G POMT1:c.1148+45C>G LOVD substitution intron 1 POMT1:c.1149-2A>G POMT1:c.1149-2A>G LOVD substitution intron 1 POMT1:c.1149-64C>T POMT1:c.1149-64C>T LOVD substitution intron 1 POMT1:c.1153C>T POMT1:c.1153C>T LOVD substitution exon 1 POMT1:c.122+5G>A POMT1:c.122+5G>A LOVD substitution intron 1 POMT1:c.123-5dupT POMT1:c.123-5dupT LOVD duplication intron 1 POMT1:c.1241+1G>A POMT1:c.1241+1G>A LOVD substitution intron 1 POMT1:c.1241+98_1241+99del POMT1:c.1241+98_1241+99del LOVD deletion intron 1 POMT1:c.1248dupT POMT1:c.1248dupT LOVD duplication exon 1 POMT1:c.1260_1262del POMT1:c.1260_1262del LOVD deletion exon 1 POMT1:c.1261_1262del POMT1:c.1261_1262del LOVD deletion exon 1 POMT1:c.1283T>A POMT1:c.1283T>A LOVD substitution exon 1 POMT1:c.1299C>A POMT1:c.1299C>A LOVD substitution exon 1 POMT1:c.129C>T POMT1:c.129C>T LOVD substitution exon 1 POMT1:c.1332delG POMT1:c.1332delG LOVD deletion exon 1 POMT1:c.1338+1G>A POMT1:c.1338+1G>A LOVD substitution intron 1 POMT1:c.1338+84C>T POMT1:c.1338+84C>T LOVD substitution intron 1 POMT1:c.1432-61A>G POMT1:c.1432-61A>G LOVD substitution intron 1 POMT1:c.1456delT POMT1:c.1456delT LOVD deletion exon 1 POMT1:c.1457G>C POMT1:c.1457G>C LOVD substitution exon 1 POMT1:c.1540C>T POMT1:c.1540C>T LOVD substitution exon 1 POMT1:c.1545C>T POMT1:c.1545C>T LOVD substitution exon 1 POMT1:c.1565G>A POMT1:c.1565G>A LOVD substitution exon 1 POMT1:c.1611C>G POMT1:c.1611C>G LOVD substitution exon 1 POMT1:c.1723delC POMT1:c.1723delC LOVD deletion exon 1 POMT1:c.1746G>C POMT1:c.1746G>C LOVD substitution exon 1 POMT1:c.1750_1764+1del POMT1:c.1750_1764+1del LOVD deletion not within known transcription unit 1 POMT1:c.1758G>A POMT1:c.1758G>A LOVD substitution exon 1 POMT1:c.1764+107C>A POMT1:c.1764+107C>A LOVD substitution intron 1 POMT1:c.1764+1G>A POMT1:c.1764+1G>A LOVD substitution intron 1 POMT1:c.1764+48C>G POMT1:c.1764+48C>G LOVD substitution intron 1 POMT1:c.1765-7_1765-6delinsAA POMT1:c.1765-7_1765-6delinsAA LOVD complex intron 1 POMT1:c.1770G>C POMT1:c.1770G>C LOVD substitution exon 1 POMT1:c.1790_1791del POMT1:c.1790_1791del LOVD deletion exon 1 POMT1:c.180_182del POMT1:c.180_182del LOVD deletion exon 1 POMT1:c.1847_1849del POMT1:c.1847_1849del LOVD deletion exon 1 POMT1:c.1858C>T POMT1:c.1858C>T LOVD substitution exon 1 POMT1:c.1864C>T POMT1:c.1864C>T LOVD substitution exon 1 POMT1:c.1868G>C POMT1:c.1868G>C LOVD substitution exon 1 POMT1:c.1891+198C>G POMT1:c.1891+198C>G LOVD substitution intron 1 POMT1:c.1891+1G>T POMT1:c.1891+1G>T LOVD substitution intron 1 POMT1:c.1922C>T POMT1:c.1922C>T LOVD substitution exon 1 POMT1:c.193G>A POMT1:c.193G>A LOVD substitution exon 1 POMT1:c.1958C>T POMT1:c.1958C>T LOVD substitution exon 1 POMT1:c.2005G>A POMT1:c.2005G>A LOVD substitution exon 1 POMT1:c.2051T>A POMT1:c.2051T>A LOVD substitution exon 1 POMT1:c.2069+13C>T POMT1:c.2069+13C>T LOVD substitution intron 1 POMT1:c.2070-70C>T POMT1:c.2070-70C>T LOVD substitution intron 1 POMT1:c.2080C>T POMT1:c.2080C>T LOVD substitution exon 1 POMT1:c.2097C>T POMT1:c.2097C>T LOVD substitution exon 1 POMT1:c.2110dupG POMT1:c.2110dupG LOVD duplication exon 1 POMT1:c.2115G>A POMT1:c.2115G>A LOVD substitution exon 1 POMT1:c.2143dupA POMT1:c.2143dupA LOVD duplication exon 1 POMT1:c.2163C>A POMT1:c.2163C>A LOVD substitution exon 1 POMT1:c.2167dupG POMT1:c.2167dupG LOVD duplication exon 1 POMT1:c.2174C>G POMT1:c.2174C>G LOVD substitution exon 1 POMT1:c.2179_2180del POMT1:c.2179_2180del LOVD deletion exon 1 POMT1:c.2203C>T POMT1:c.2203C>T LOVD substitution exon 1 POMT1:c.2234G>A POMT1:c.2234G>A LOVD substitution exon 1 POMT1:c.226G>A POMT1:c.226G>A LOVD substitution exon 1 POMT1:c.280+1G>T POMT1:c.280+1G>T LOVD substitution intron 1 POMT1:c.281-82C>T POMT1:c.281-82C>T LOVD substitution intron 1 POMT1:c.291delC POMT1:c.291delC LOVD deletion exon 1 POMT1:c.313C>T POMT1:c.313C>T LOVD substitution exon 1 POMT1:c.314G>A POMT1:c.314G>A LOVD substitution exon 1 POMT1:c.318G>A POMT1:c.318G>A LOVD substitution exon 1 POMT1:c.385delT POMT1:c.385delT LOVD deletion exon 1 POMT1:c.418_420del POMT1:c.418_420del LOVD deletion exon 1 POMT1:c.427+1_427+2insA POMT1:c.427+1_427+2insA LOVD insertion intron 1 POMT1:c.427G>A POMT1:c.427G>A LOVD substitution exon 1 POMT1:c.427G>T POMT1:c.427G>T LOVD substitution exon 1 POMT1:c.428-21T>C POMT1:c.428-21T>C LOVD substitution intron 1 POMT1:c.485delT POMT1:c.485delT LOVD deletion exon 1 POMT1:c.517_523delinsG POMT1:c.517_523delinsG LOVD complex exon 1 POMT1:c.539+1G>T POMT1:c.539+1G>T LOVD substitution intron 1 POMT1:c.598G>C POMT1:c.598G>C LOVD substitution exon 1 POMT1:c.605+1G>A POMT1:c.605+1G>A LOVD substitution intron 1 POMT1:c.620G>T POMT1:c.620G>T LOVD substitution exon 1 POMT1:c.718T>G POMT1:c.718T>G LOVD substitution exon 1 POMT1:c.739A>G POMT1:c.739A>G LOVD substitution exon 1 POMT1:c.751C>T POMT1:c.751C>T LOVD substitution exon 1 POMT1:c.752G>A POMT1:c.752G>A LOVD substitution exon 1 POMT1:c.766-43T>G POMT1:c.766-43T>G LOVD substitution intron 1 POMT1:c.766-48A>G POMT1:c.766-48A>G LOVD substitution intron 1 POMT1:c.78G>A POMT1:c.78G>A LOVD substitution exon 1 POMT1:c.7G>T POMT1:c.7G>T LOVD substitution exon 1 POMT1:c.818C>T POMT1:c.818C>T LOVD substitution exon 1 POMT1:c.81dupA POMT1:c.81dupA LOVD duplication exon 1 POMT1:c.842_844delTCT POMT1:c.842_844delTCT LOVD deletion exon 1 POMT1:c.855G>C POMT1:c.855G>C LOVD substitution exon 1 POMT1:c.85A>C POMT1:c.85A>C LOVD substitution exon 1 POMT1:c.905T>G POMT1:c.905T>G LOVD substitution exon 1 POMT1:c.907C>T POMT1:c.907C>T LOVD substitution exon 1 POMT1:c.922-49T>G POMT1:c.922-49T>G LOVD substitution intron 1 POMT1:c.922-65G>A POMT1:c.922-65G>A LOVD substitution intron 1 POMT1:c.942C>T POMT1:c.942C>T LOVD substitution exon 1 POMT1:c.957G>A POMT1:c.957G>A LOVD substitution exon 1 POMT1:c.979G>A POMT1:c.979G>A LOVD substitution exon 1 POMT2:c.(1168_1171del) POMT2:c.(1168_1171del) LOVD deletion exon 1 POMT2:c.(1785G>C)? POMT2:c.(1785G>C)? LOVD substitution exon 0 POMT2:c.*587G>A POMT2:c.*587G>A LOVD substitution not within known transcription unit 1 POMT2:c.*75C>T POMT2:c.*75C>T LOVD substitution not within known transcription unit 1 POMT2:c.-47_-44del POMT2:c.-47_-44del LOVD deletion not within known transcription unit 1 POMT2:c.1006+1G>A POMT2:c.1006+1G>A LOVD substitution intron 1 POMT2:c.1006+5G>A POMT2:c.1006+5G>A LOVD substitution intron 1 POMT2:c.1007-32G>A POMT2:c.1007-32G>A LOVD substitution intron 1 POMT2:c.1007-46C>T POMT2:c.1007-46C>T LOVD substitution intron 1 POMT2:c.1051delG POMT2:c.1051delG LOVD deletion exon 1 POMT2:c.1057G>A POMT2:c.1057G>A LOVD substitution exon 1 POMT2:c.1064T>C POMT2:c.1064T>C LOVD substitution exon 1 POMT2:c.1116+165C>T POMT2:c.1116+165C>T LOVD substitution intron 1 POMT2:c.1116+1G>A POMT2:c.1116+1G>A LOVD substitution intron 1 POMT2:c.1116+35A>G POMT2:c.1116+35A>G LOVD substitution intron 1 POMT2:c.1116+91C>T POMT2:c.1116+91C>T LOVD substitution intron 1 POMT2:c.1117-20C>T POMT2:c.1117-20C>T LOVD substitution intron 1 POMT2:c.1117-817_1333-379del POMT2:c.1117-817_1333-379del LOVD deletion intron 1 POMT2:c.1117-827delT POMT2:c.1117-827delT LOVD deletion intron 1 POMT2:c.1117G>T POMT2:c.1117G>T LOVD substitution exon 1 POMT2:c.1139A>T POMT2:c.1139A>T LOVD substitution exon 1 POMT2:c.1159delA POMT2:c.1159delA LOVD deletion exon 1 POMT2:c.1238G>C POMT2:c.1238G>C LOVD substitution exon 1 POMT2:c.1261delC POMT2:c.1261delC LOVD deletion exon 1 POMT2:c.1333-14G>A POMT2:c.1333-14G>A LOVD substitution intron 1 POMT2:c.1333-6T>G POMT2:c.1333-6T>G LOVD substitution intron 1 POMT2:c.1383A>G POMT2:c.1383A>G LOVD substitution exon 1 POMT2:c.1414A>C POMT2:c.1414A>C LOVD substitution exon 1 POMT2:c.1445G>T POMT2:c.1445G>T LOVD substitution exon 1 POMT2:c.1484G>C POMT2:c.1484G>C LOVD substitution exon 1 POMT2:c.161C>A POMT2:c.161C>A LOVD substitution exon 1 POMT2:c.162G>T POMT2:c.162G>T LOVD substitution exon 1 POMT2:c.1653+38G>A POMT2:c.1653+38G>A LOVD substitution intron 1 POMT2:c.1654-41G>C POMT2:c.1654-41G>C LOVD substitution intron 1 POMT2:c.1654-6A>G POMT2:c.1654-6A>G LOVD substitution intron 1 POMT2:c.1725+51G>C POMT2:c.1725+51G>C LOVD substitution intron 1 POMT2:c.1769A>G POMT2:c.1769A>G LOVD substitution exon 1 POMT2:c.1881G>A POMT2:c.1881G>A LOVD substitution exon 1 POMT2:c.1890A>G POMT2:c.1890A>G LOVD substitution exon 1 POMT2:c.1903G>A POMT2:c.1903G>A LOVD substitution exon 1 POMT2:c.1911G>T POMT2:c.1911G>T LOVD substitution exon 1 POMT2:c.1912C>A POMT2:c.1912C>A LOVD substitution exon 1 POMT2:c.1912C>T POMT2:c.1912C>T LOVD substitution exon 1 POMT2:c.1975C>T POMT2:c.1975C>T LOVD substitution exon 1 POMT2:c.1997A>G POMT2:c.1997A>G LOVD substitution exon 1 POMT2:c.2047A>C POMT2:c.2047A>C LOVD substitution exon 1 POMT2:c.2148-18A>G POMT2:c.2148-18A>G LOVD substitution intron 1 POMT2:c.2150T>C POMT2:c.2150T>C LOVD substitution exon 1 POMT2:c.2176G>A POMT2:c.2176G>A LOVD substitution exon 1 POMT2:c.2177G>A POMT2:c.2177G>A LOVD substitution exon 1 POMT2:c.2242T>C POMT2:c.2242T>C LOVD substitution exon 1 POMT2:c.2243G>C POMT2:c.2243G>C LOVD substitution exon 1 POMT2:c.248+5G>C POMT2:c.248+5G>C LOVD substitution intron 1 POMT2:c.287A>G POMT2:c.287A>G LOVD substitution exon 1 POMT2:c.334-2172_657-763delinsCCTG POMT2:c.334-2172_657-763delinsCCTG LOVD complex intron 1 POMT2:c.334-45T>C POMT2:c.334-45T>C LOVD substitution intron 1 POMT2:c.439-45C>T POMT2:c.439-45C>T LOVD substitution intron 1 POMT2:c.439-98A>T POMT2:c.439-98A>T LOVD substitution intron 1 POMT2:c.512C>T POMT2:c.512C>T LOVD substitution exon 1 POMT2:c.527C>T POMT2:c.527C>T LOVD substitution exon 1 POMT2:c.548-77C>G POMT2:c.548-77C>G LOVD substitution intron 1 POMT2:c.551C>T POMT2:c.551C>T LOVD substitution exon 1 POMT2:c.586G>T POMT2:c.586G>T LOVD substitution exon 1 POMT2:c.593T>A POMT2:c.593T>A LOVD substitution exon 1 POMT2:c.604T>G POMT2:c.604T>G LOVD substitution exon 1 POMT2:c.796G>A POMT2:c.796G>A LOVD substitution exon 1 POMT2:c.807T>G POMT2:c.807T>G LOVD substitution exon 1 POMT2:c.816+51T>C POMT2:c.816+51T>C LOVD substitution intron 1 POMT2:c.817-26C>T POMT2:c.817-26C>T LOVD substitution intron 1 POMT2:c.924-2A>C POMT2:c.924-2A>C LOVD substitution intron 1 POMT2:c.924-2A>G POMT2:c.924-2A>G LOVD substitution intron 1 PTRF:c.*63_*71dup PTRF:c.*63_*71dup LOVD duplication not within known transcription unit 1 PTRF:c.526delG PTRF:c.526delG LOVD deletion exon 1 PTRF:c.696dupC PTRF:c.696dupC LOVD duplication exon 1 RYR1:c.(13673G>A) RYR1:c.(13673G>A) LOVD substitution exon 1 RYR1:c.(14378T>C) RYR1:c.(14378T>C) LOVD substitution exon 1 RYR1:c.(14387A>G) RYR1:c.(14387A>G) LOVD substitution exon 1 RYR1:c.(14410C>T) RYR1:c.(14410C>T) LOVD substitution exon 1 RYR1:c.(14473C>T) RYR1:c.(14473C>T) LOVD substitution exon 1 RYR1:c.(14537C>T) RYR1:c.(14537C>T) LOVD substitution exon 1 RYR1:c.(14582G>A) RYR1:c.(14582G>A) LOVD substitution exon 1 RYR1:c.(14659C>T) RYR1:c.(14659C>T) LOVD substitution exon 1 RYR1:c.(14690G>T) RYR1:c.(14690G>T) LOVD substitution exon 1 RYR1:c.(14693T>C) RYR1:c.(14693T>C) LOVD substitution exon 1 RYR1:c.(1840C>T) RYR1:c.(1840C>T) LOVD substitution exon 1 RYR1:c.(1841G>T)? RYR1:c.(1841G>T)? LOVD substitution exon 0 RYR1:c.(6617C>T) RYR1:c.(6617C>T) LOVD substitution exon 1 RYR1:c.(7300G>A) RYR1:c.(7300G>A) LOVD substitution exon 1 RYR1:c.(7304G>A) RYR1:c.(7304G>A) LOVD substitution exon 1 RYR1:c.(7304G>A)? RYR1:c.(7304G>A)? LOVD substitution exon 0 RYR1:c.(7361G>A) RYR1:c.(7361G>A) LOVD substitution exon 1 RYR1:c.-108T>C RYR1:c.-108T>C LOVD substitution not within known transcription unit 1 RYR1:c.10043G>A RYR1:c.10043G>A LOVD substitution exon 1 RYR1:c.10086C>T RYR1:c.10086C>T LOVD substitution exon 1 RYR1:c.10097G>A RYR1:c.10097G>A LOVD substitution exon 1 RYR1:c.10100A>G RYR1:c.10100A>G LOVD substitution exon 1 RYR1:c.1014C>A RYR1:c.1014C>A LOVD substitution exon 1 RYR1:c.10188C>T RYR1:c.10188C>T LOVD substitution exon 1 RYR1:c.10218C>T RYR1:c.10218C>T LOVD substitution exon 1 RYR1:c.1021G>A RYR1:c.1021G>A LOVD substitution exon 1 RYR1:c.1021G>C RYR1:c.1021G>C LOVD substitution exon 1 RYR1:c.10262C>T RYR1:c.10262C>T LOVD substitution exon 1 RYR1:c.10343C>T RYR1:c.10343C>T LOVD substitution exon 1 RYR1:c.10348-42T>G RYR1:c.10348-42T>G LOVD substitution intron 1 RYR1:c.10348-6C>G RYR1:c.10348-6C>G LOVD substitution intron 1 RYR1:c.103T>C RYR1:c.103T>C LOVD substitution exon 1 RYR1:c.10456-518T>C RYR1:c.10456-518T>C LOVD substitution intron 1 RYR1:c.10579C>T RYR1:c.10579C>T LOVD substitution exon 1 RYR1:c.10616G>A RYR1:c.10616G>A LOVD substitution exon 1 RYR1:c.10627-255T>C RYR1:c.10627-255T>C LOVD substitution intron 1 RYR1:c.10687-7C>T RYR1:c.10687-7C>T LOVD substitution intron 1 RYR1:c.10747G>C RYR1:c.10747G>C LOVD substitution exon 1 RYR1:c.1077T>C RYR1:c.1077T>C LOVD substitution exon 1 RYR1:c.10817T>C RYR1:c.10817T>C LOVD substitution exon 1 RYR1:c.10825-218C>G RYR1:c.10825-218C>G LOVD substitution intron 1 RYR1:c.10937+39G>A RYR1:c.10937+39G>A LOVD substitution intron 1 RYR1:c.10938-86A>G RYR1:c.10938-86A>G LOVD substitution intron 1 RYR1:c.1100G>A RYR1:c.1100G>A LOVD substitution exon 1 RYR1:c.1100G>T RYR1:c.1100G>T LOVD substitution exon 1 RYR1:c.11120G>T RYR1:c.11120G>T LOVD substitution exon 1 RYR1:c.1116G>A RYR1:c.1116G>A LOVD substitution exon 1 RYR1:c.1122+44C>T RYR1:c.1122+44C>T LOVD substitution intron 1 RYR1:c.1122+52T>C RYR1:c.1122+52T>C LOVD substitution intron 1 RYR1:c.1122+95T>C RYR1:c.1122+95T>C LOVD substitution intron 1 RYR1:c.1123-11C>T RYR1:c.1123-11C>T LOVD substitution intron 1 RYR1:c.11266C>G RYR1:c.11266C>G LOVD substitution exon 1 RYR1:c.11315G>A RYR1:c.11315G>A LOVD substitution exon 1 RYR1:c.11518G>A RYR1:c.11518G>A LOVD substitution exon 1 RYR1:c.11547G>A RYR1:c.11547G>A LOVD substitution exon 1 RYR1:c.11590+13C>T RYR1:c.11590+13C>T LOVD substitution intron 1 RYR1:c.11590+43C>T RYR1:c.11590+43C>T LOVD substitution intron 1 RYR1:c.11708G>A RYR1:c.11708G>A LOVD substitution exon 1 RYR1:c.11748T>G RYR1:c.11748T>G LOVD substitution exon 1 RYR1:c.11754T>A RYR1:c.11754T>A LOVD substitution exon 1 RYR1:c.11778G>A RYR1:c.11778G>A LOVD substitution exon 1 RYR1:c.11798A>G RYR1:c.11798A>G LOVD substitution exon 1 RYR1:c.11908-14A>G RYR1:c.11908-14A>G LOVD substitution intron 1 RYR1:c.11908-23C>T RYR1:c.11908-23C>T LOVD substitution intron 1 RYR1:c.11908-25C>G RYR1:c.11908-25C>G LOVD substitution intron 1 RYR1:c.11953T>C RYR1:c.11953T>C LOVD substitution exon 1 RYR1:c.11958C>G RYR1:c.11958C>G LOVD substitution exon 1 RYR1:c.11969G>T RYR1:c.11969G>T LOVD substitution exon 1 RYR1:c.1201C>G RYR1:c.1201C>G LOVD substitution exon 1 RYR1:c.1201C>T RYR1:c.1201C>T LOVD substitution exon 1 RYR1:c.1202G>A RYR1:c.1202G>A LOVD substitution exon 1 RYR1:c.1205T>C RYR1:c.1205T>C LOVD substitution exon 1 RYR1:c.12095-129G>C RYR1:c.12095-129G>C LOVD substitution intron 1 RYR1:c.1209C>G RYR1:c.1209C>G LOVD substitution exon 1 RYR1:c.12121C>T RYR1:c.12121C>T LOVD substitution exon 1 RYR1:c.12149C>A RYR1:c.12149C>A LOVD substitution exon 1 RYR1:c.1218C>T RYR1:c.1218C>T LOVD substitution exon 1 RYR1:c.12241A>T RYR1:c.12241A>T LOVD substitution exon 1 RYR1:c.12335C>T RYR1:c.12335C>T LOVD substitution exon 1 RYR1:c.12355A>T RYR1:c.12355A>T LOVD substitution exon 1 RYR1:c.12406C>A RYR1:c.12406C>A LOVD substitution exon 1 RYR1:c.12413T>C RYR1:c.12413T>C LOVD substitution exon 1 RYR1:c.12624+1597T>C RYR1:c.12624+1597T>C LOVD substitution intron 1 RYR1:c.12640_12648del RYR1:c.12640_12648del LOVD deletion exon 1 RYR1:c.12700G>C RYR1:c.12700G>C LOVD substitution exon 1 RYR1:c.1280C>T RYR1:c.1280C>T LOVD substitution exon 1 RYR1:c.1280_1281dupCG RYR1:c.1280_1281dupCG LOVD duplication exon 1 RYR1:c.12848A>T RYR1:c.12848A>T LOVD substitution exon 1 RYR1:c.12879G>C RYR1:c.12879G>C LOVD substitution exon 1 RYR1:c.12884C>T RYR1:c.12884C>T LOVD substitution exon 1 RYR1:c.12960_12968dup RYR1:c.12960_12968dup LOVD duplication exon 1 RYR1:c.12986C>A RYR1:c.12986C>A LOVD substitution exon 1 RYR1:c.13013_13032del RYR1:c.13013_13032del LOVD deletion exon 1 RYR1:c.130C>T RYR1:c.130C>T LOVD substitution exon 1 RYR1:c.131G>A RYR1:c.131G>A LOVD substitution exon 1 RYR1:c.13254C>A RYR1:c.13254C>A LOVD substitution exon 1 RYR1:c.13317C>T RYR1:c.13317C>T LOVD substitution exon 1 RYR1:c.13470G>A RYR1:c.13470G>A LOVD substitution exon 1 RYR1:c.13503G>A RYR1:c.13503G>A LOVD substitution exon 1 RYR1:c.13509A>G RYR1:c.13509A>G LOVD substitution exon 1 RYR1:c.13514+77C>T RYR1:c.13514+77C>T LOVD substitution intron 1 RYR1:c.13617C>T RYR1:c.13617C>T LOVD substitution exon 1 RYR1:c.13671C>G RYR1:c.13671C>G LOVD substitution exon 1 RYR1:c.13673G>A RYR1:c.13673G>A LOVD substitution exon 1 RYR1:c.13703T>C RYR1:c.13703T>C LOVD substitution exon 1 RYR1:c.13891T>A RYR1:c.13891T>A LOVD substitution exon 1 RYR1:c.13900G>A RYR1:c.13900G>A LOVD substitution exon 1 RYR1:c.13909A>G RYR1:c.13909A>G LOVD substitution exon 1 RYR1:c.13910C>T RYR1:c.13910C>T LOVD substitution exon 1 RYR1:c.13912G>A RYR1:c.13912G>A LOVD substitution exon 1 RYR1:c.13913G>A RYR1:c.13913G>A LOVD substitution exon 1 RYR1:c.13919T>G RYR1:c.13919T>G LOVD substitution exon 1 RYR1:c.13934G>A RYR1:c.13934G>A LOVD substitution exon 1 RYR1:c.13940T>C RYR1:c.13940T>C LOVD substitution exon 1 RYR1:c.13941_13946del RYR1:c.13941_13946del LOVD deletion exon 1 RYR1:c.13949T>C RYR1:c.13949T>C LOVD substitution exon 1 RYR1:c.13952A>C RYR1:c.13952A>C LOVD substitution exon 1 RYR1:c.13994_13995delinsCT RYR1:c.13994_13995delinsCT LOVD complex exon 1 RYR1:c.14002C>T RYR1:c.14002C>T LOVD substitution exon 1 RYR1:c.14051T>C RYR1:c.14051T>C LOVD substitution exon 1 RYR1:c.14126C>T RYR1:c.14126C>T LOVD substitution exon 1 RYR1:c.14170A>C RYR1:c.14170A>C LOVD substitution exon 1 RYR1:c.14197T>G RYR1:c.14197T>G LOVD substitution exon 1 RYR1:c.14201G>A RYR1:c.14201G>A LOVD substitution exon 1 RYR1:c.14209C>T RYR1:c.14209C>T LOVD substitution exon 1 RYR1:c.14210G>A RYR1:c.14210G>A LOVD substitution exon 1 RYR1:c.14228G>A RYR1:c.14228G>A LOVD substitution exon 1 RYR1:c.1422G>T RYR1:c.1422G>T LOVD substitution exon 1 RYR1:c.14256A>C RYR1:c.14256A>C LOVD substitution exon 1 RYR1:c.14365-2A>T RYR1:c.14365-2A>T LOVD substitution intron 1 RYR1:c.14378T>C RYR1:c.14378T>C LOVD substitution exon 1 RYR1:c.14387A>G RYR1:c.14387A>G LOVD substitution exon 1 RYR1:c.1440+74G>A RYR1:c.1440+74G>A LOVD substitution intron 1 RYR1:c.1441-24T>C RYR1:c.1441-24T>C LOVD substitution intron 1 RYR1:c.14422T>A RYR1:c.14422T>A LOVD substitution exon 1 RYR1:c.14424C>A RYR1:c.14424C>A LOVD substitution exon 1 RYR1:c.14440C>T RYR1:c.14440C>T LOVD substitution exon 1 RYR1:c.14449A>T RYR1:c.14449A>T LOVD substitution exon 1 RYR1:c.14458G>T RYR1:c.14458G>T LOVD substitution exon 1 RYR1:c.14471T>C RYR1:c.14471T>C LOVD substitution exon 1 RYR1:c.14473C>T RYR1:c.14473C>T LOVD substitution exon 1 RYR1:c.14474G>C RYR1:c.14474G>C LOVD substitution exon 1 RYR1:c.14477C>T RYR1:c.14477C>T LOVD substitution exon 1 RYR1:c.14497C>T RYR1:c.14497C>T LOVD substitution exon 1 RYR1:c.14510delA RYR1:c.14510delA LOVD deletion exon 1 RYR1:c.14512C>G RYR1:c.14512C>G LOVD substitution exon 1 RYR1:c.14524G>A RYR1:c.14524G>A LOVD substitution exon 1 RYR1:c.14537C>T RYR1:c.14537C>T LOVD substitution exon 1 RYR1:c.1453A>G RYR1:c.1453A>G LOVD substitution exon 1 RYR1:c.14545G>A RYR1:c.14545G>A LOVD substitution exon 1 RYR1:c.14567C>G RYR1:c.14567C>G LOVD substitution exon 1 RYR1:c.14572A>G RYR1:c.14572A>G LOVD substitution exon 1 RYR1:c.14578T>G RYR1:c.14578T>G LOVD substitution exon 1 RYR1:c.14578_14580del RYR1:c.14578_14580del LOVD deletion exon 1 RYR1:c.14581C>T RYR1:c.14581C>T LOVD substitution exon 1 RYR1:c.14582G>A RYR1:c.14582G>A LOVD substitution exon 1 RYR1:c.14588_14605del RYR1:c.14588_14605del LOVD deletion exon 1 RYR1:c.14591A>G RYR1:c.14591A>G LOVD substitution exon 1 RYR1:c.14627A>G RYR1:c.14627A>G LOVD substitution exon 1 RYR1:c.14639T>C RYR1:c.14639T>C LOVD substitution exon 1 RYR1:c.14645C>T RYR1:c.14645C>T LOVD substitution exon 1 RYR1:c.14647-1449A>G RYR1:c.14647-1449A>G LOVD substitution intron 1 RYR1:c.14647-1876C>T RYR1:c.14647-1876C>T LOVD substitution intron 1 RYR1:c.14647-60C>T RYR1:c.14647-60C>T LOVD substitution intron 1 RYR1:c.14667C>G RYR1:c.14667C>G LOVD substitution exon 1 RYR1:c.14671G>C RYR1:c.14671G>C LOVD substitution exon 1 RYR1:c.14677C>T RYR1:c.14677C>T LOVD substitution exon 1 RYR1:c.14678G>A RYR1:c.14678G>A LOVD substitution exon 1 RYR1:c.14678G>C RYR1:c.14678G>C LOVD substitution exon 1 RYR1:c.14680G>A RYR1:c.14680G>A LOVD substitution exon 1 RYR1:c.14680G>C RYR1:c.14680G>C LOVD substitution exon 1 RYR1:c.14681C>T RYR1:c.14681C>T LOVD substitution exon 1 RYR1:c.14693T>C RYR1:c.14693T>C LOVD substitution exon 1 RYR1:c.14695G>A RYR1:c.14695G>A LOVD substitution exon 1 RYR1:c.14696G>A RYR1:c.14696G>A LOVD substitution exon 1 RYR1:c.14717C>T RYR1:c.14717C>T LOVD substitution exon 1 RYR1:c.14740A>G RYR1:c.14740A>G LOVD substitution exon 1 RYR1:c.14741G>C RYR1:c.14741G>C LOVD substitution exon 1 RYR1:c.14752G>A RYR1:c.14752G>A LOVD substitution exon 1 RYR1:c.14759C>A RYR1:c.14759C>A LOVD substitution exon 1 RYR1:c.14761_14762delinsAC RYR1:c.14761_14762delinsAC LOVD complex exon 1 RYR1:c.14762T>C RYR1:c.14762T>C LOVD substitution exon 1 RYR1:c.14779G>T RYR1:c.14779G>T LOVD substitution exon 1 RYR1:c.14779_14784del RYR1:c.14779_14784del LOVD deletion exon 1 RYR1:c.14804-1G>T RYR1:c.14804-1G>T LOVD substitution intron 1 RYR1:c.14814C>G RYR1:c.14814C>G LOVD substitution exon 1 RYR1:c.14817C>A RYR1:c.14817C>A LOVD substitution exon 1 RYR1:c.14818G>A RYR1:c.14818G>A LOVD substitution exon 1 RYR1:c.14822T>G RYR1:c.14822T>G LOVD substitution exon 1 RYR1:c.14825G>T RYR1:c.14825G>T LOVD substitution exon 1 RYR1:c.14869-1G>C RYR1:c.14869-1G>C LOVD substitution intron 1 RYR1:c.14879T>A RYR1:c.14879T>A LOVD substitution exon 1 RYR1:c.14892C>A RYR1:c.14892C>A LOVD substitution exon 1 RYR1:c.14918C>T RYR1:c.14918C>T LOVD substitution exon 1 RYR1:c.152C>A RYR1:c.152C>A LOVD substitution exon 1 RYR1:c.1534G>A RYR1:c.1534G>A LOVD substitution exon 1 RYR1:c.1565A>C RYR1:c.1565A>C LOVD substitution exon 1 RYR1:c.1565A>G RYR1:c.1565A>G LOVD substitution exon 1 RYR1:c.1589G>A RYR1:c.1589G>A LOVD substitution exon 1 RYR1:c.1597C>T RYR1:c.1597C>T LOVD substitution exon 1 RYR1:c.1598G>A RYR1:c.1598G>A LOVD substitution exon 1 RYR1:c.1615T>C RYR1:c.1615T>C LOVD substitution exon 1 RYR1:c.165+74G>C RYR1:c.165+74G>C LOVD substitution intron 1 RYR1:c.1654C>T RYR1:c.1654C>T LOVD substitution exon 1 RYR1:c.1668G>A RYR1:c.1668G>A LOVD substitution exon 1 RYR1:c.1672+29G>C RYR1:c.1672+29G>C LOVD substitution intron 1 RYR1:c.1739_1742dup RYR1:c.1739_1742dup LOVD duplication exon 1 RYR1:c.178G>A RYR1:c.178G>A LOVD substitution exon 1 RYR1:c.1840C>T RYR1:c.1840C>T LOVD substitution exon 1 RYR1:c.1841G>T RYR1:c.1841G>T LOVD substitution exon 1 RYR1:c.1878T>G RYR1:c.1878T>G LOVD substitution exon 1 RYR1:c.190T>C RYR1:c.190T>C LOVD substitution exon 1 RYR1:c.1925+86T>C RYR1:c.1925+86T>C LOVD substitution intron 1 RYR1:c.2121C>A RYR1:c.2121C>A LOVD substitution exon 1 RYR1:c.212C>A RYR1:c.212C>A LOVD substitution exon 1 RYR1:c.2167+31C>G RYR1:c.2167+31C>G LOVD substitution intron 1 RYR1:c.2168-57T>G RYR1:c.2168-57T>G LOVD substitution intron 1 RYR1:c.2223C>T RYR1:c.2223C>T LOVD substitution exon 1 RYR1:c.2286C>T RYR1:c.2286C>T LOVD substitution exon 1 RYR1:c.2361-68C>T RYR1:c.2361-68C>T LOVD substitution intron 1 RYR1:c.2455C>T RYR1:c.2455C>T LOVD substitution exon 1 RYR1:c.2537C>T RYR1:c.2537C>T LOVD substitution exon 1 RYR1:c.2578-23C>G RYR1:c.2578-23C>G LOVD substitution intron 1 RYR1:c.270+27G>A RYR1:c.270+27G>A LOVD substitution intron 1 RYR1:c.2712G>A RYR1:c.2712G>A LOVD substitution exon 1 RYR1:c.2943G>A RYR1:c.2943G>A LOVD substitution exon 1 RYR1:c.2943G>C RYR1:c.2943G>C LOVD substitution exon 1 RYR1:c.2979C>T RYR1:c.2979C>T LOVD substitution exon 1 RYR1:c.2996G>A RYR1:c.2996G>A LOVD substitution exon 1 RYR1:c.3042G>A RYR1:c.3042G>A LOVD substitution exon 1 RYR1:c.3127C>T RYR1:c.3127C>T LOVD substitution exon 1 RYR1:c.325C>T RYR1:c.325C>T LOVD substitution exon 1 RYR1:c.3382-410T>G RYR1:c.3382-410T>G LOVD substitution intron 1 RYR1:c.3418C>T RYR1:c.3418C>T LOVD substitution exon 1 RYR1:c.3456C>T RYR1:c.3456C>T LOVD substitution exon 1 RYR1:c.3557-74C>T RYR1:c.3557-74C>T LOVD substitution intron 1 RYR1:c.35_37delinsCG RYR1:c.35_37delinsCG LOVD complex exon 1 RYR1:c.38T>G RYR1:c.38T>G LOVD substitution exon 1 RYR1:c.4024A>G RYR1:c.4024A>G LOVD substitution exon 1 RYR1:c.4107C>T RYR1:c.4107C>T LOVD substitution exon 1 RYR1:c.4454+29G>A RYR1:c.4454+29G>A LOVD substitution intron 1 RYR1:c.45+300T>C RYR1:c.45+300T>C LOVD substitution intron 1 RYR1:c.463C>A RYR1:c.463C>A LOVD substitution exon 1 RYR1:c.467G>A RYR1:c.467G>A LOVD substitution exon 1 RYR1:c.4719G>A RYR1:c.4719G>A LOVD substitution exon 1 RYR1:c.4729G>A RYR1:c.4729G>A LOVD substitution exon 1 RYR1:c.4766A>C? RYR1:c.4766A>C? LOVD substitution exon 0 RYR1:c.4775C>T RYR1:c.4775C>T LOVD substitution exon 1 RYR1:c.479A>G RYR1:c.479A>G LOVD substitution exon 1 RYR1:c.487C>T RYR1:c.487C>T LOVD substitution exon 1 RYR1:c.488G>T RYR1:c.488G>T LOVD substitution exon 1 RYR1:c.4934G>A RYR1:c.4934G>A LOVD substitution exon 1 RYR1:c.493G>A RYR1:c.493G>A LOVD substitution exon 1 RYR1:c.496G>A RYR1:c.496G>A LOVD substitution exon 1 RYR1:c.497A>G RYR1:c.497A>G LOVD substitution exon 1 RYR1:c.5110G>A RYR1:c.5110G>A LOVD substitution exon 1 RYR1:c.5182T>C RYR1:c.5182T>C LOVD substitution exon 1 RYR1:c.5183C>T RYR1:c.5183C>T LOVD substitution exon 1 RYR1:c.5186T>G RYR1:c.5186T>G LOVD substitution exon 1 RYR1:c.51_53del RYR1:c.51_53del LOVD deletion exon 1 RYR1:c.529C>T RYR1:c.529C>T LOVD substitution exon 1 RYR1:c.533A>T RYR1:c.533A>T LOVD substitution exon 1 RYR1:c.5360C>T RYR1:c.5360C>T LOVD substitution exon 1 RYR1:c.5441T>A RYR1:c.5441T>A LOVD substitution exon 1 RYR1:c.5495G>C RYR1:c.5495G>C LOVD substitution exon 1 RYR1:c.5619G>A RYR1:c.5619G>A LOVD substitution exon 1 RYR1:c.573C>T RYR1:c.573C>T LOVD substitution exon 1 RYR1:c.5938delC RYR1:c.5938delC LOVD deletion exon 1 RYR1:c.594A>G RYR1:c.594A>G LOVD substitution exon 1 RYR1:c.5988C>T RYR1:c.5988C>T LOVD substitution exon 1 RYR1:c.6039A>G RYR1:c.6039A>G LOVD substitution exon 1 RYR1:c.6178G>T RYR1:c.6178G>T LOVD substitution exon 1 RYR1:c.6274+55C>T RYR1:c.6274+55C>T LOVD substitution intron 1 RYR1:c.6349G>C RYR1:c.6349G>C LOVD substitution exon 1 RYR1:c.6387C>G RYR1:c.6387C>G LOVD substitution exon 1 RYR1:c.6388G>A RYR1:c.6388G>A LOVD substitution exon 1 RYR1:c.644G>A RYR1:c.644G>A LOVD substitution exon 1 RYR1:c.6487C>T RYR1:c.6487C>T LOVD substitution exon 1 RYR1:c.6488G>A RYR1:c.6488G>A LOVD substitution exon 1 RYR1:c.6488G>C RYR1:c.6488G>C LOVD substitution exon 1 RYR1:c.6502G>A RYR1:c.6502G>A LOVD substitution exon 1 RYR1:c.652G>A RYR1:c.652G>A LOVD substitution exon 1 RYR1:c.6544A>T RYR1:c.6544A>T LOVD substitution exon 1 RYR1:c.6599C>T RYR1:c.6599C>T LOVD substitution exon 1 RYR1:c.6612C>G RYR1:c.6612C>G LOVD substitution exon 1 RYR1:c.6617C>G RYR1:c.6617C>G LOVD substitution exon 1 RYR1:c.6617C>T RYR1:c.6617C>T LOVD substitution exon 1 RYR1:c.6628G>T RYR1:c.6628G>T LOVD substitution exon 1 RYR1:c.6635T>A RYR1:c.6635T>A LOVD substitution exon 1 RYR1:c.6635T>C RYR1:c.6635T>C LOVD substitution exon 1 RYR1:c.6640G>A RYR1:c.6640G>A LOVD substitution exon 1 RYR1:c.6669C>T RYR1:c.6669C>T LOVD substitution exon 1 RYR1:c.677T>A RYR1:c.677T>A LOVD substitution exon 1 RYR1:c.680A>T RYR1:c.680A>T LOVD substitution exon 1 RYR1:c.6838G>A RYR1:c.6838G>A LOVD substitution exon 1 RYR1:c.6847A>C RYR1:c.6847A>C LOVD substitution exon 1 RYR1:c.6961A>G RYR1:c.6961A>G LOVD substitution exon 1 RYR1:c.7007G>A RYR1:c.7007G>A LOVD substitution exon 1 RYR1:c.7025A>G RYR1:c.7025A>G LOVD substitution exon 1 RYR1:c.7027+27C>T RYR1:c.7027+27C>T LOVD substitution intron 1 RYR1:c.7027+63G>A RYR1:c.7027+63G>A LOVD substitution intron 1 RYR1:c.7032G>C RYR1:c.7032G>C LOVD substitution exon 1 RYR1:c.7036G>A RYR1:c.7036G>A LOVD substitution exon 1 RYR1:c.7042_7044del RYR1:c.7042_7044del LOVD deletion exon 1 RYR1:c.7043A>G RYR1:c.7043A>G LOVD substitution exon 1 RYR1:c.7048G>A RYR1:c.7048G>A LOVD substitution exon 1 RYR1:c.7063C>T RYR1:c.7063C>T LOVD substitution exon 1 RYR1:c.7085A>G RYR1:c.7085A>G LOVD substitution exon 1 RYR1:c.7089C>T RYR1:c.7089C>T LOVD substitution exon 1 RYR1:c.7090T>G RYR1:c.7090T>G LOVD substitution exon 1 RYR1:c.7097C>G RYR1:c.7097C>G LOVD substitution exon 1 RYR1:c.7098C>T RYR1:c.7098C>T LOVD substitution exon 1 RYR1:c.7099G>A RYR1:c.7099G>A LOVD substitution exon 1 RYR1:c.7102C>T RYR1:c.7102C>T LOVD substitution exon 1 RYR1:c.7124G>C RYR1:c.7124G>C LOVD substitution exon 1 RYR1:c.7209C>T RYR1:c.7209C>T LOVD substitution exon 1 RYR1:c.7260C>T RYR1:c.7260C>T LOVD substitution exon 1 RYR1:c.7261G>C RYR1:c.7261G>C LOVD substitution exon 1 RYR1:c.7268T>A RYR1:c.7268T>A LOVD substitution exon 1 RYR1:c.7282G>A RYR1:c.7282G>A LOVD substitution exon 1 RYR1:c.7291G>A RYR1:c.7291G>A LOVD substitution exon 1 RYR1:c.7291G>T RYR1:c.7291G>T LOVD substitution exon 1 RYR1:c.7300G>A RYR1:c.7300G>A LOVD substitution exon 1 RYR1:c.7304G>A RYR1:c.7304G>A LOVD substitution exon 1 RYR1:c.7304G>T RYR1:c.7304G>T LOVD substitution exon 1 RYR1:c.7310C>T RYR1:c.7310C>T LOVD substitution exon 1 RYR1:c.7317G>C RYR1:c.7317G>C LOVD substitution exon 1 RYR1:c.7323+20C>A RYR1:c.7323+20C>A LOVD substitution intron 1 RYR1:c.7324-19C>T RYR1:c.7324-19C>T LOVD substitution intron 1 RYR1:c.7324-1G>T RYR1:c.7324-1G>T LOVD substitution intron 1 RYR1:c.7354C>T RYR1:c.7354C>T LOVD substitution exon 1 RYR1:c.7355G>A RYR1:c.7355G>A LOVD substitution exon 1 RYR1:c.7358T>C RYR1:c.7358T>C LOVD substitution exon 1 RYR1:c.7360C>T RYR1:c.7360C>T LOVD substitution exon 1 RYR1:c.7361G>A RYR1:c.7361G>A LOVD substitution exon 1 RYR1:c.7372C>T RYR1:c.7372C>T LOVD substitution exon 1 RYR1:c.7373G>A RYR1:c.7373G>A LOVD substitution exon 1 RYR1:c.742G>A RYR1:c.742G>A LOVD substitution exon 1 RYR1:c.742G>C RYR1:c.742G>C LOVD substitution exon 1 RYR1:c.7487C>T RYR1:c.7487C>T LOVD substitution exon 1 RYR1:c.7500G>T RYR1:c.7500G>T LOVD substitution exon 1 RYR1:c.7522C>G RYR1:c.7522C>G LOVD substitution exon 1 RYR1:c.7522C>T RYR1:c.7522C>T LOVD substitution exon 1 RYR1:c.7523G>A RYR1:c.7523G>A LOVD substitution exon 1 RYR1:c.7527G>A RYR1:c.7527G>A LOVD substitution exon 1 RYR1:c.7528T>C RYR1:c.7528T>C LOVD substitution exon 1 RYR1:c.7584C>T RYR1:c.7584C>T LOVD substitution exon 1 RYR1:c.7614+10C>G RYR1:c.7614+10C>G LOVD substitution intron 1 RYR1:c.7635G>C RYR1:c.7635G>C LOVD substitution exon 1 RYR1:c.7648C>G RYR1:c.7648C>G LOVD substitution exon 1 RYR1:c.7771C>G RYR1:c.7771C>G LOVD substitution exon 1 RYR1:c.7771C>T RYR1:c.7771C>T LOVD substitution exon 1 RYR1:c.7787C>T RYR1:c.7787C>T LOVD substitution exon 1 RYR1:c.7835+5A>G RYR1:c.7835+5A>G LOVD substitution intron 1 RYR1:c.7836-66A>G RYR1:c.7836-66A>G LOVD substitution intron 1 RYR1:c.7836-70G>C RYR1:c.7836-70G>C LOVD substitution intron 1 RYR1:c.7863C>T RYR1:c.7863C>T LOVD substitution exon 1 RYR1:c.7872C>T RYR1:c.7872C>T LOVD substitution exon 1 RYR1:c.7888G>C RYR1:c.7888G>C LOVD substitution exon 1 RYR1:c.7926+28A>G RYR1:c.7926+28A>G LOVD substitution intron 1 RYR1:c.7977G>A RYR1:c.7977G>A LOVD substitution exon 1 RYR1:c.8026C>T RYR1:c.8026C>T LOVD substitution exon 1 RYR1:c.8118T>C RYR1:c.8118T>C LOVD substitution exon 1 RYR1:c.8188G>C RYR1:c.8188G>C LOVD substitution exon 1 RYR1:c.8189A>G RYR1:c.8189A>G LOVD substitution exon 1 RYR1:c.8190T>C RYR1:c.8190T>C LOVD substitution exon 1 RYR1:c.8198G>A RYR1:c.8198G>A LOVD substitution exon 1 RYR1:c.8290G>A RYR1:c.8290G>A LOVD substitution exon 1 RYR1:c.8310+98C>G RYR1:c.8310+98C>G LOVD substitution intron 1 RYR1:c.8337G>A RYR1:c.8337G>A LOVD substitution exon 1 RYR1:c.8360C>G RYR1:c.8360C>G LOVD substitution exon 1 RYR1:c.8400+28A>G RYR1:c.8400+28A>G LOVD substitution intron 1 RYR1:c.8400+61C>T RYR1:c.8400+61C>T LOVD substitution intron 1 RYR1:c.8518C>T RYR1:c.8518C>T LOVD substitution exon 1 RYR1:c.8541+34C>T RYR1:c.8541+34C>T LOVD substitution intron 1 RYR1:c.8541+37T>G RYR1:c.8541+37T>G LOVD substitution intron 1 RYR1:c.8541+54A>G RYR1:c.8541+54A>G LOVD substitution intron 1 RYR1:c.8589T>C RYR1:c.8589T>C LOVD substitution exon 1 RYR1:c.8600T>A RYR1:c.8600T>A LOVD substitution exon 1 RYR1:c.8617-35C>T RYR1:c.8617-35C>T LOVD substitution intron 1 RYR1:c.8638G>A RYR1:c.8638G>A LOVD substitution exon 1 RYR1:c.8692+28T>G RYR1:c.8692+28T>G LOVD substitution intron 1 RYR1:c.8693-10G>C RYR1:c.8693-10G>C LOVD substitution intron 1 RYR1:c.873G>A RYR1:c.873G>A LOVD substitution exon 1 RYR1:c.8816+17T>A RYR1:c.8816+17T>A LOVD substitution intron 1 RYR1:c.8816+43A>C RYR1:c.8816+43A>C LOVD substitution intron 1 RYR1:c.8816+87G>T RYR1:c.8816+87G>T LOVD substitution intron 1 RYR1:c.8816G>A RYR1:c.8816G>A LOVD substitution exon 1 RYR1:c.9123-61C>T RYR1:c.9123-61C>T LOVD substitution intron 1 RYR1:c.9173-21C>T RYR1:c.9173-21C>T LOVD substitution intron 1 RYR1:c.9173-98T>G RYR1:c.9173-98T>G LOVD substitution intron 1 RYR1:c.9186A>G RYR1:c.9186A>G LOVD substitution exon 1 RYR1:c.9310G>A RYR1:c.9310G>A LOVD substitution exon 1 RYR1:c.9356G>A RYR1:c.9356G>A LOVD substitution exon 1 RYR1:c.947G>T RYR1:c.947G>T LOVD substitution exon 1 RYR1:c.9554+190G>T RYR1:c.9554+190G>T LOVD substitution intron 1 RYR1:c.9555-13C>T RYR1:c.9555-13C>T LOVD substitution intron 1 RYR1:c.9690G>A RYR1:c.9690G>A LOVD substitution exon 1 RYR1:c.97A>G RYR1:c.97A>G LOVD substitution exon 1 RYR1:c.982C>T RYR1:c.982C>T LOVD substitution exon 1 SEPN1:c.*1107T>C SEPN1:c.*1107T>C LOVD substitution not within known transcription unit 1 SEPN1:c.*1612T>C SEPN1:c.*1612T>C LOVD substitution not within known transcription unit 1 SEPN1:c.*1722T>C SEPN1:c.*1722T>C LOVD substitution not within known transcription unit 1 SEPN1:c.*2336A>T SEPN1:c.*2336A>T LOVD substitution not within known transcription unit 1 SEPN1:c.*2465G>A SEPN1:c.*2465G>A LOVD substitution not within known transcription unit 1 SEPN1:c.*44G>T SEPN1:c.*44G>T LOVD substitution not within known transcription unit 1 SEPN1:c.-11_81del SEPN1:c.-11_81del LOVD deletion not within known transcription unit 1 SEPN1:c.-14_-5dup SEPN1:c.-14_-5dup LOVD duplication not within known transcription unit 1 SEPN1:c.-22_72del SEPN1:c.-22_72del LOVD deletion not within known transcription unit 1 SEPN1:c.1019A>T SEPN1:c.1019A>T LOVD substitution exon 1 SEPN1:c.1021G>A SEPN1:c.1021G>A LOVD substitution exon 1 SEPN1:c.1076T>C SEPN1:c.1076T>C LOVD substitution exon 1 SEPN1:c.1092+6C>G SEPN1:c.1092+6C>G LOVD substitution intron 1 SEPN1:c.1173T>C SEPN1:c.1173T>C LOVD substitution exon 1 SEPN1:c.1282-2A>C SEPN1:c.1282-2A>C LOVD substitution intron 1 SEPN1:c.1282-3C>T SEPN1:c.1282-3C>T LOVD substitution intron 1 SEPN1:c.1315C>T SEPN1:c.1315C>T LOVD substitution exon 1 SEPN1:c.1329G>A SEPN1:c.1329G>A LOVD substitution exon 1 SEPN1:c.1332_1334del SEPN1:c.1332_1334del LOVD deletion exon 1 SEPN1:c.1358G>C SEPN1:c.1358G>C LOVD substitution exon 1 SEPN1:c.1384T>G SEPN1:c.1384T>G LOVD substitution exon 1 SEPN1:c.1385G>A SEPN1:c.1385G>A LOVD substitution exon 1 SEPN1:c.1386A>G SEPN1:c.1386A>G LOVD substitution exon 1 SEPN1:c.1388G>T SEPN1:c.1388G>T LOVD substitution exon 1 SEPN1:c.1397G>A SEPN1:c.1397G>A LOVD substitution exon 1 SEPN1:c.13_22dup SEPN1:c.13_22dup LOVD duplication exon 1 SEPN1:c.1405C>T SEPN1:c.1405C>T LOVD substitution exon 1 SEPN1:c.1406G>A SEPN1:c.1406G>A LOVD substitution exon 1 SEPN1:c.1446delC SEPN1:c.1446delC LOVD deletion exon 1 SEPN1:c.1469G>A SEPN1:c.1469G>A LOVD substitution exon 1 SEPN1:c.1469G>T SEPN1:c.1469G>T LOVD substitution exon 1 SEPN1:c.1501-31C>T SEPN1:c.1501-31C>T LOVD substitution intron 1 SEPN1:c.1506C>A SEPN1:c.1506C>A LOVD substitution exon 1 SEPN1:c.1574T>G SEPN1:c.1574T>G LOVD substitution exon 1 SEPN1:c.1578_1580del SEPN1:c.1578_1580del LOVD deletion exon 1 SEPN1:c.1596C>T SEPN1:c.1596C>T LOVD substitution exon 1 SEPN1:c.1602+1G>A SEPN1:c.1602+1G>A LOVD substitution intron 1 SEPN1:c.1603-2A>G SEPN1:c.1603-2A>G LOVD substitution intron 1 SEPN1:c.1645G>A SEPN1:c.1645G>A LOVD substitution exon 1 SEPN1:c.1A>G SEPN1:c.1A>G LOVD substitution exon 1 SEPN1:c.23_32dup10 SEPN1:c.23_32dup10 LOVD duplication exon 1 SEPN1:c.249_250dup SEPN1:c.249_250dup LOVD duplication exon 1 SEPN1:c.253A>G SEPN1:c.253A>G LOVD substitution exon 1 SEPN1:c.2dupT SEPN1:c.2dupT LOVD duplication exon 1 SEPN1:c.2T>G SEPN1:c.2T>G LOVD substitution exon 1 SEPN1:c.409A>G SEPN1:c.409A>G LOVD substitution exon 1 SEPN1:c.415G>A SEPN1:c.415G>A LOVD substitution exon 1 SEPN1:c.425G>A SEPN1:c.425G>A LOVD substitution exon 1 SEPN1:c.42C>T SEPN1:c.42C>T LOVD substitution exon 1 SEPN1:c.44_72dup SEPN1:c.44_72dup LOVD duplication exon 1 SEPN1:c.465G>A SEPN1:c.465G>A LOVD substitution exon 1 SEPN1:c.481C>T SEPN1:c.481C>T LOVD substitution exon 1 SEPN1:c.583G>A SEPN1:c.583G>A LOVD substitution exon 1 SEPN1:c.60_79dup SEPN1:c.60_79dup LOVD duplication exon 1 SEPN1:c.713dupA SEPN1:c.713dupA LOVD duplication exon 1 SEPN1:c.817G>A SEPN1:c.817G>A LOVD substitution exon 1 SEPN1:c.846C>T SEPN1:c.846C>T LOVD substitution exon 1 SEPN1:c.863_864del SEPN1:c.863_864del LOVD deletion exon 1 SEPN1:c.872G>A SEPN1:c.872G>A LOVD substitution exon 1 SEPN1:c.878A>G SEPN1:c.878A>G LOVD substitution exon 1 SEPN1:c.943G>A SEPN1:c.943G>A LOVD substitution exon 1 SEPN1:c.965_967delinsCATCATCT SEPN1:c.965_967delinsCATCATCT LOVD complex exon 1 SEPN1:c.981C>T SEPN1:c.981C>T LOVD substitution exon 1 SEPN1:c.988delC SEPN1:c.988delC LOVD deletion exon 1 SEPN1:c.9_33del SEPN1:c.9_33del LOVD deletion exon 1 SGCA:c.(229C>T) SGCA:c.(229C>T) LOVD substitution exon 1 SGCA:c.(348_352dup) SGCA:c.(348_352dup) LOVD duplication exon 1 SGCA:c.(37+3A>T) SGCA:c.(37+3A>T) LOVD substitution intron 1 SGCA:c.(967_968del) SGCA:c.(967_968del) LOVD deletion exon 1 SGCA:c.*133G>T SGCA:c.*133G>T LOVD substitution not within known transcription unit 1 SGCA:c.*166A>G SGCA:c.*166A>G LOVD substitution not within known transcription unit 1 SGCA:c.*69C>T SGCA:c.*69C>T LOVD substitution not within known transcription unit 1 SGCA:c.*6C>T SGCA:c.*6C>T LOVD substitution not within known transcription unit 1 SGCA:c.100C>T SGCA:c.100C>T LOVD substitution exon 1 SGCA:c.101G>A SGCA:c.101G>A LOVD substitution exon 1 SGCA:c.157+1G>A SGCA:c.157+1G>A LOVD substitution intron 1 SGCA:c.157G>A SGCA:c.157G>A LOVD substitution exon 1 SGCA:c.161delT SGCA:c.161delT LOVD deletion exon 1 SGCA:c.184T>C SGCA:c.184T>C LOVD substitution exon 1 SGCA:c.203G>A SGCA:c.203G>A LOVD substitution exon 1 SGCA:c.220C>T SGCA:c.220C>T LOVD substitution exon 1 SGCA:c.229C>T SGCA:c.229C>T LOVD substitution exon 1 SGCA:c.238C>T SGCA:c.238C>T LOVD substitution exon 1 SGCA:c.241C>T SGCA:c.241C>T LOVD substitution exon 1 SGCA:c.250dupC SGCA:c.250dupC LOVD duplication exon 1 SGCA:c.265C>T SGCA:c.265C>T LOVD substitution exon 1 SGCA:c.266_267inv SGCA:c.266_267inv LOVD inversion exon 1 SGCA:c.269A>G SGCA:c.269A>G LOVD substitution exon 1 SGCA:c.271G>A SGCA:c.271G>A LOVD substitution exon 1 SGCA:c.271G>C SGCA:c.271G>C LOVD substitution exon 1 SGCA:c.278C>T SGCA:c.278C>T LOVD substitution exon 1 SGCA:c.288_290del SGCA:c.288_290del LOVD deletion exon 1 SGCA:c.290A>G SGCA:c.290A>G LOVD substitution exon 1 SGCA:c.292C>A SGCA:c.292C>A LOVD substitution exon 1 SGCA:c.292C>T SGCA:c.292C>T LOVD substitution exon 1 SGCA:c.293G>A SGCA:c.293G>A LOVD substitution exon 1 SGCA:c.301C>T SGCA:c.301C>T LOVD substitution exon 1 SGCA:c.307A>T SGCA:c.307A>T LOVD substitution exon 1 SGCA:c.308T>C SGCA:c.308T>C LOVD substitution exon 1 SGCA:c.312+83C>T SGCA:c.312+83C>T LOVD substitution intron 1 SGCA:c.313-39C>A SGCA:c.313-39C>A LOVD substitution intron 1 SGCA:c.329G>T SGCA:c.329G>T LOVD substitution exon 1 SGCA:c.348_352dup SGCA:c.348_352dup LOVD duplication exon 1 SGCA:c.37+1G>C SGCA:c.37+1G>C LOVD substitution intron 1 SGCA:c.37+23G>T SGCA:c.37+23G>T LOVD substitution intron 1 SGCA:c.37+27A>G SGCA:c.37+27A>G LOVD substitution intron 1 SGCA:c.37+3A>T SGCA:c.37+3A>T LOVD substitution intron 1 SGCA:c.37+66C>T SGCA:c.37+66C>T LOVD substitution intron 1 SGCA:c.371T>C SGCA:c.371T>C LOVD substitution exon 1 SGCA:c.377A>G SGCA:c.377A>G LOVD substitution exon 1 SGCA:c.385+1G>T SGCA:c.385+1G>T LOVD substitution intron 1 SGCA:c.402C>G SGCA:c.402C>G LOVD substitution exon 1 SGCA:c.403C>T SGCA:c.403C>T LOVD substitution exon 1 SGCA:c.409G>A SGCA:c.409G>A LOVD substitution exon 1 SGCA:c.411dup8 SGCA:c.411dup8 LOVD duplication exon 1 SGCA:c.416T>G SGCA:c.416T>G LOVD substitution exon 1 SGCA:c.421C>A SGCA:c.421C>A LOVD substitution exon 1 SGCA:c.432T>C SGCA:c.432T>C LOVD substitution exon 1 SGCA:c.452C>G SGCA:c.452C>G LOVD substitution exon 1 SGCA:c.464delG SGCA:c.464delG LOVD deletion exon 1 SGCA:c.472C>T SGCA:c.472C>T LOVD substitution exon 1 SGCA:c.488dupG SGCA:c.488dupG LOVD duplication exon 1 SGCA:c.518T>C SGCA:c.518T>C LOVD substitution exon 1 SGCA:c.524T>C SGCA:c.524T>C LOVD substitution exon 1 SGCA:c.528C>T SGCA:c.528C>T LOVD substitution exon 1 SGCA:c.530delC SGCA:c.530delC LOVD deletion exon 1 SGCA:c.541C>T SGCA:c.541C>T LOVD substitution exon 1 SGCA:c.574C>T SGCA:c.574C>T LOVD substitution exon 1 SGCA:c.583G>A SGCA:c.583G>A LOVD substitution exon 1 SGCA:c.584+15C>T SGCA:c.584+15C>T LOVD substitution intron 1 SGCA:c.584+1G>T SGCA:c.584+1G>T LOVD substitution intron 1 SGCA:c.584+229G>A SGCA:c.584+229G>A LOVD substitution intron 1 SGCA:c.585-222C>T SGCA:c.585-222C>T LOVD substitution intron 1 SGCA:c.585-2_585-1delinsT SGCA:c.585-2_585-1delinsT LOVD complex intron 1 SGCA:c.586G>A SGCA:c.586G>A LOVD substitution exon 1 SGCA:c.600G>A SGCA:c.600G>A LOVD substitution exon 1 SGCA:c.613C>T SGCA:c.613C>T LOVD substitution exon 1 SGCA:c.614C>A SGCA:c.614C>A LOVD substitution exon 1 SGCA:c.622A>G SGCA:c.622A>G LOVD substitution exon 1 SGCA:c.623C>T SGCA:c.623C>T LOVD substitution exon 1 SGCA:c.644C>T SGCA:c.644C>T LOVD substitution exon 1 SGCA:c.662G>A SGCA:c.662G>A LOVD substitution exon 1 SGCA:c.671A>C SGCA:c.671A>C LOVD substitution exon 1 SGCA:c.680C>G SGCA:c.680C>G LOVD substitution exon 1 SGCA:c.683C>A SGCA:c.683C>A LOVD substitution exon 1 SGCA:c.695G>C SGCA:c.695G>C LOVD substitution exon 1 SGCA:c.704C>A SGCA:c.704C>A LOVD substitution exon 1 SGCA:c.712C>A SGCA:c.712C>A LOVD substitution exon 1 SGCA:c.724G>T SGCA:c.724G>T LOVD substitution exon 1 SGCA:c.725T>C SGCA:c.725T>C LOVD substitution exon 1 SGCA:c.736_956+74del SGCA:c.736_956+74del LOVD deletion not within known transcription unit 1 SGCA:c.739G>A SGCA:c.739G>A LOVD substitution exon 1 SGCA:c.73C>T SGCA:c.73C>T LOVD substitution exon 1 SGCA:c.748-12_748-11delinsAA SGCA:c.748-12_748-11delinsAA LOVD complex intron 1 SGCA:c.748-1G>A SGCA:c.748-1G>A LOVD substitution intron 1 SGCA:c.748-?_956+?del SGCA:c.748-?_956+?del LOVD deletion not within known transcription unit 0 SGCA:c.748-?_983+?del SGCA:c.748-?_983+?del LOVD deletion not within known transcription unit 0 SGCA:c.754_755del SGCA:c.754_755del LOVD deletion exon 1 SGCA:c.814G>T SGCA:c.814G>T LOVD substitution exon 1 SGCA:c.834_837del SGCA:c.834_837del LOVD deletion exon 1 SGCA:c.850C>T SGCA:c.850C>T LOVD substitution exon 1 SGCA:c.86dupA SGCA:c.86dupA LOVD duplication exon 1 SGCA:c.88C>A SGCA:c.88C>A LOVD substitution exon 1 SGCA:c.88_112del SGCA:c.88_112del LOVD deletion exon 1 SGCA:c.89C>T SGCA:c.89C>T LOVD substitution exon 1 SGCA:c.920delT SGCA:c.920delT LOVD deletion exon 1 SGCA:c.929_930del SGCA:c.929_930del LOVD deletion exon 1 SGCA:c.92T>C SGCA:c.92T>C LOVD substitution exon 1 SGCA:c.933C>T SGCA:c.933C>T LOVD substitution exon 1 SGCA:c.935T>G SGCA:c.935T>G LOVD substitution exon 1 SGCA:c.956+2T>C SGCA:c.956+2T>C LOVD substitution intron 1 SGCA:c.957-1G>T SGCA:c.957-1G>T LOVD substitution intron 1 SGCA:c.967_968del SGCA:c.967_968del LOVD deletion exon 1 SGCB:c.*1566T>C SGCB:c.*1566T>C LOVD substitution not within known transcription unit 1 SGCB:c.*1624C>T SGCB:c.*1624C>T LOVD substitution not within known transcription unit 1 SGCB:c.*2097T>G SGCB:c.*2097T>G LOVD substitution not within known transcription unit 1 SGCB:c.*521A>T SGCB:c.*521A>T LOVD substitution not within known transcription unit 1 SGCB:c.-10_16del SGCB:c.-10_16del LOVD deletion not within known transcription unit 1 SGCB:c.-10_16dup SGCB:c.-10_16dup LOVD duplication not within known transcription unit 1 SGCB:c.-10_22dup SGCB:c.-10_22dup LOVD duplication not within known transcription unit 1 SGCB:c.-189G>T SGCB:c.-189G>T LOVD substitution not within known transcription unit 1 SGCB:c.-18_8dup SGCB:c.-18_8dup LOVD duplication not within known transcription unit 1 SGCB:c.-22_33+?dup SGCB:c.-22_33+?dup LOVD duplication not within known transcription unit 0 SGCB:c.-60-?_*3251+?del SGCB:c.-60-?_*3251+?del LOVD deletion not within known transcription unit 0 SGCB:c.112_113del SGCB:c.112_113del LOVD deletion exon 1 SGCB:c.128dupG SGCB:c.128dupG LOVD duplication exon 1 SGCB:c.166G>C SGCB:c.166G>C LOVD substitution exon 1 SGCB:c.191T>G SGCB:c.191T>G LOVD substitution exon 1 SGCB:c.19delG SGCB:c.19delG LOVD deletion exon 1 SGCB:c.1A>T SGCB:c.1A>T LOVD substitution exon 1 SGCB:c.1_2del SGCB:c.1_2del LOVD deletion exon 1 SGCB:c.212T>G SGCB:c.212T>G LOVD substitution exon 1 SGCB:c.21_23dup SGCB:c.21_23dup LOVD duplication exon 1 SGCB:c.243+2T>G SGCB:c.243+2T>G LOVD substitution intron 1 SGCB:c.243+3_243+6del SGCB:c.243+3_243+6del LOVD deletion intron 1 SGCB:c.243+5G>A SGCB:c.243+5G>A LOVD substitution intron 1 SGCB:c.244-21T>C SGCB:c.244-21T>C LOVD substitution intron 1 SGCB:c.244-2A>G SGCB:c.244-2A>G LOVD substitution intron 1 SGCB:c.244-622T>C SGCB:c.244-622T>C LOVD substitution intron 1 SGCB:c.244-761T>C SGCB:c.244-761T>C LOVD substitution intron 1 SGCB:c.265G>A SGCB:c.265G>A LOVD substitution exon 1 SGCB:c.271C>T SGCB:c.271C>T LOVD substitution exon 1 SGCB:c.272G>C SGCB:c.272G>C LOVD substitution exon 1 SGCB:c.272G>T SGCB:c.272G>T LOVD substitution exon 1 SGCB:c.274_275delinsTC SGCB:c.274_275delinsTC LOVD complex exon 1 SGCB:c.275T>C SGCB:c.275T>C LOVD substitution exon 1 SGCB:c.299T>A SGCB:c.299T>A LOVD substitution exon 1 SGCB:c.2T>C SGCB:c.2T>C LOVD substitution exon 1 SGCB:c.31C>G SGCB:c.31C>G LOVD substitution exon 1 SGCB:c.31C>T SGCB:c.31C>T LOVD substitution exon 1 SGCB:c.323T>G SGCB:c.323T>G LOVD substitution exon 1 SGCB:c.325C>T SGCB:c.325C>T LOVD substitution exon 1 SGCB:c.33+1G>C SGCB:c.33+1G>C LOVD substitution intron 1 SGCB:c.33+2241C>A SGCB:c.33+2241C>A LOVD substitution intron 1 SGCB:c.334_337del SGCB:c.334_337del LOVD deletion exon 1 SGCB:c.34-47A>T SGCB:c.34-47A>T LOVD substitution intron 1 SGCB:c.34-?_243+?del SGCB:c.34-?_243+?del LOVD deletion not within known transcription unit 0 SGCB:c.341C>T SGCB:c.341C>T LOVD substitution exon 1 SGCB:c.355A>T SGCB:c.355A>T LOVD substitution exon 1 SGCB:c.376A>G SGCB:c.376A>G LOVD substitution exon 1 SGCB:c.377_384dup SGCB:c.377_384dup LOVD duplication exon 1 SGCB:c.398A>G SGCB:c.398A>G LOVD substitution exon 1 SGCB:c.416G>A SGCB:c.416G>A LOVD substitution exon 1 SGCB:c.430-328C>T SGCB:c.430-328C>T LOVD substitution intron 1 SGCB:c.452C>G SGCB:c.452C>G LOVD substitution exon 1 SGCB:c.466_467del SGCB:c.466_467del LOVD deletion exon 1 SGCB:c.499G>A SGCB:c.499G>A LOVD substitution exon 1 SGCB:c.538T>C SGCB:c.538T>C LOVD substitution exon 1 SGCB:c.541_551del SGCB:c.541_551del LOVD deletion exon 1 SGCB:c.544A>G SGCB:c.544A>G LOVD substitution exon 1 SGCB:c.551A>G SGCB:c.551A>G LOVD substitution exon 1 SGCB:c.552T>G SGCB:c.552T>G LOVD substitution exon 1 SGCB:c.595_598del SGCB:c.595_598del LOVD deletion exon 1 SGCB:c.608_609insG SGCB:c.608_609insG LOVD insertion exon 1 SGCB:c.622-2A>G SGCB:c.622-2A>G LOVD substitution intron 1 SGCB:c.630C>G SGCB:c.630C>G LOVD substitution exon 1 SGCB:c.699_702del SGCB:c.699_702del LOVD deletion exon 1 SGCB:c.739dupA SGCB:c.739dupA LOVD duplication exon 1 SGCB:c.753+427T>G SGCB:c.753+427T>G LOVD substitution intron 1 SGCB:c.754-1849T>C SGCB:c.754-1849T>C LOVD substitution intron 1 SGCB:c.799C>T SGCB:c.799C>T LOVD substitution exon 1 SGCB:c.82_86del SGCB:c.82_86del LOVD deletion exon 1 SGCB:c.83A>G SGCB:c.83A>G LOVD substitution exon 1 SGCB:c.856A>G SGCB:c.856A>G LOVD substitution exon 1 SGCB:c.858G>T SGCB:c.858G>T LOVD substitution exon 1 SGCB:c.85A>T SGCB:c.85A>T LOVD substitution exon 1 SGCB:c.90G>T SGCB:c.90G>T LOVD substitution exon 1 SGCB:c.911A>G SGCB:c.911A>G LOVD substitution exon 1 SGCB:c.931G>A SGCB:c.931G>A LOVD substitution exon 1 SGCD:c.-14G>T SGCD:c.-14G>T LOVD substitution not within known transcription unit 1 SGCD:c.-43-44A>C SGCD:c.-43-44A>C LOVD substitution not within known transcription unit 1 SGCD:c.-43-45C>A SGCD:c.-43-45C>A LOVD substitution not within known transcription unit 1 SGCD:c.-94C>G SGCD:c.-94C>G LOVD substitution not within known transcription unit 1 SGCD:c.192+39267T>C SGCD:c.192+39267T>C LOVD substitution intron 1 SGCD:c.192+76044A>G SGCD:c.192+76044A>G LOVD substitution intron 1 SGCD:c.193-13439G>T SGCD:c.193-13439G>T LOVD substitution intron 1 SGCD:c.193-13512C>T SGCD:c.193-13512C>T LOVD substitution intron 1 SGCD:c.193-14304A>T SGCD:c.193-14304A>T LOVD substitution intron 1 SGCD:c.212G>C SGCD:c.212G>C LOVD substitution exon 1 SGCD:c.226G>T SGCD:c.226G>T LOVD substitution exon 1 SGCD:c.277G>T SGCD:c.277G>T LOVD substitution exon 1 SGCD:c.290G>A SGCD:c.290G>A LOVD substitution exon 1 SGCD:c.295-38T>A SGCD:c.295-38T>A LOVD substitution intron 1 SGCD:c.295-498A>G SGCD:c.295-498A>G LOVD substitution intron 1 SGCD:c.309C>T SGCD:c.309C>T LOVD substitution exon 1 SGCD:c.382+1_382+2del SGCD:c.382+1_382+2del LOVD deletion intron 1 SGCD:c.382+2036A>G SGCD:c.382+2036A>G LOVD substitution intron 1 SGCD:c.383-171A>G SGCD:c.383-171A>G LOVD substitution intron 1 SGCD:c.383-21C>G SGCD:c.383-21C>G LOVD substitution intron 1 SGCD:c.391G>C SGCD:c.391G>C LOVD substitution exon 1 SGCD:c.451T>G SGCD:c.451T>G LOVD substitution exon 1 SGCD:c.493C>T SGCD:c.493C>T LOVD substitution exon 1 SGCD:c.525_560del SGCD:c.525_560del LOVD deletion exon 1 SGCD:c.575+54942C>T SGCD:c.575+54942C>T LOVD substitution intron 1 SGCD:c.576-48916_576-48913dup SGCD:c.576-48916_576-48913dup LOVD duplication intron 1 SGCD:c.593G>C SGCD:c.593G>C LOVD substitution exon 1 SGCD:c.631A>T SGCD:c.631A>T LOVD substitution exon 1 SGCD:c.657delC SGCD:c.657delC LOVD deletion exon 1 SGCD:c.699+13_699+15del SGCD:c.699+13_699+15del LOVD deletion intron 1 SGCD:c.784G>A SGCD:c.784G>A LOVD substitution exon 1 SGCD:c.84T>C SGCD:c.84T>C LOVD substitution exon 1 SGCD:c.89G>A SGCD:c.89G>A LOVD substitution exon 1 SGCE:c.-911G>C SGCE:c.-911G>C LOVD substitution not within known transcription unit 1 SGCE:c.-1062T>C SGCE:c.-1062T>C LOVD substitution not within known transcription unit 1 SGCE:c.-1067T>C SGCE:c.-1067T>C LOVD substitution not within known transcription unit 1 SGCE:c.-111-?_*275+?del SGCE:c.-111-?_*275+?del LOVD deletion not within known transcription unit 0 SGCE:c.1037+2T>C SGCE:c.1037+2T>C LOVD substitution intron 1 SGCE:c.1037+5G>A SGCE:c.1037+5G>A LOVD substitution intron 1 SGCE:c.1114C>T SGCE:c.1114C>T LOVD substitution exon 1 SGCE:c.1253+811A>C SGCE:c.1253+811A>C LOVD substitution intron 1 SGCE:c.1253+811_1253+812delinsCA SGCE:c.1253+811_1253+812delinsCA LOVD complex intron 1 SGCE:c.1253+812G>A SGCE:c.1253+812G>A LOVD substitution intron 1 SGCE:c.1253+814G>A SGCE:c.1253+814G>A LOVD substitution intron 1 SGCE:c.146A>G SGCE:c.146A>G LOVD substitution exon 1 SGCE:c.164delG SGCE:c.164delG LOVD deletion exon 1 SGCE:c.179A>C SGCE:c.179A>C LOVD substitution exon 1 SGCE:c.179A>G SGCE:c.179A>G LOVD substitution exon 1 SGCE:c.208G>T SGCE:c.208G>T LOVD substitution exon 1 SGCE:c.221delA SGCE:c.221delA LOVD deletion exon 1 SGCE:c.232+1G>A SGCE:c.232+1G>A LOVD substitution intron 1 SGCE:c.232+2T>C SGCE:c.232+2T>C LOVD substitution intron 1 SGCE:c.232G>T SGCE:c.232G>T LOVD substitution exon 1 SGCE:c.233-1G>A SGCE:c.233-1G>A LOVD substitution intron 1 SGCE:c.233-1G>T SGCE:c.233-1G>T LOVD substitution intron 1 SGCE:c.275T>C SGCE:c.275T>C LOVD substitution exon 1 SGCE:c.278delG SGCE:c.278delG LOVD deletion exon 1 SGCE:c.289C>T SGCE:c.289C>T LOVD substitution exon 1 SGCE:c.300G>A SGCE:c.300G>A LOVD substitution exon 1 SGCE:c.304C>T SGCE:c.304C>T LOVD substitution exon 1 SGCE:c.344A>G SGCE:c.344A>G LOVD substitution exon 1 SGCE:c.391-3T>C SGCE:c.391-3T>C LOVD substitution intron 1 SGCE:c.391-42A>C SGCE:c.391-42A>C LOVD substitution intron 1 SGCE:c.391-43A>C SGCE:c.391-43A>C LOVD substitution intron 1 SGCE:c.391-79G>T SGCE:c.391-79G>T LOVD substitution intron 1 SGCE:c.391-82_405del SGCE:c.391-82_405del LOVD deletion intron 1 SGCE:c.444_447del SGCE:c.444_447del LOVD deletion exon 1 SGCE:c.463+6T>C SGCE:c.463+6T>C LOVD substitution intron 1 SGCE:c.464-317_663-802del SGCE:c.464-317_663-802del LOVD deletion intron 1 SGCE:c.54G>A SGCE:c.54G>A LOVD substitution exon 1 SGCE:c.564_576del SGCE:c.564_576del LOVD deletion exon 1 SGCE:c.566delA SGCE:c.566delA LOVD deletion exon 1 SGCE:c.572G>A SGCE:c.572G>A LOVD substitution exon 1 SGCE:c.587T>G SGCE:c.587T>G LOVD substitution exon 1 SGCE:c.619_620del SGCE:c.619_620del LOVD deletion exon 1 SGCE:c.626dupG SGCE:c.626dupG LOVD duplication exon 1 SGCE:c.663-6109_825+550del SGCE:c.663-6109_825+550del LOVD deletion intron 1 SGCE:c.709C>T SGCE:c.709C>T LOVD substitution exon 1 SGCE:c.734_737del SGCE:c.734_737del LOVD deletion exon 1 SGCE:c.742_745dup SGCE:c.742_745dup LOVD duplication exon 1 SGCE:c.808T>C SGCE:c.808T>C LOVD substitution exon 1 SGCE:c.812G>A SGCE:c.812G>A LOVD substitution exon 1 SGCE:c.825+1G>A SGCE:c.825+1G>A LOVD substitution intron 1 SGCE:c.835_839del SGCE:c.835_839del LOVD deletion exon 1 SGCE:c.856C>T SGCE:c.856C>T LOVD substitution exon 1 SGCE:c.884dupT SGCE:c.884dupT LOVD duplication exon 1 SGCE:c.966delT SGCE:c.966delT LOVD deletion exon 1 SGCE:c.974delC SGCE:c.974delC LOVD deletion exon 1 SGCG:c.*102A>C SGCG:c.*102A>C LOVD substitution not within known transcription unit 1 SGCG:c.*136T>C SGCG:c.*136T>C LOVD substitution not within known transcription unit 1 SGCG:c.*13C>T SGCG:c.*13C>T LOVD substitution not within known transcription unit 1 SGCG:c.*254G>A SGCG:c.*254G>A LOVD substitution not within known transcription unit 1 SGCG:c.*295T>C SGCG:c.*295T>C LOVD substitution not within known transcription unit 1 SGCG:c.*37dupG SGCG:c.*37dupG LOVD duplication not within known transcription unit 1 SGCG:c.*505A>G SGCG:c.*505A>G LOVD substitution not within known transcription unit 1 SGCG:c.*54C>T SGCG:c.*54C>T LOVD substitution not within known transcription unit 1 SGCG:c.*64G>A SGCG:c.*64G>A LOVD substitution not within known transcription unit 1 SGCG:c.*7T>C SGCG:c.*7T>C LOVD substitution not within known transcription unit 1 SGCG:c.*90G>A SGCG:c.*90G>A LOVD substitution not within known transcription unit 1 SGCG:c.-1+1380G>A SGCG:c.-1+1380G>A LOVD substitution not within known transcription unit 1 SGCG:c.-1+5G>A SGCG:c.-1+5G>A LOVD substitution not within known transcription unit 1 SGCG:c.-127_121del SGCG:c.-127_121del LOVD deletion not within known transcription unit 1 SGCG:c.-128delG SGCG:c.-128delG LOVD deletion not within known transcription unit 1 SGCG:c.-88G>A SGCG:c.-88G>A LOVD substitution not within known transcription unit 1 SGCG:c.1-6638T>C SGCG:c.1-6638T>C LOVD substitution intron 1 SGCG:c.1-8906G>A SGCG:c.1-8906G>A LOVD substitution intron 1 SGCG:c.1-?_505+?del SGCG:c.1-?_505+?del LOVD deletion not within known transcription unit 0 SGCG:c.112T>C SGCG:c.112T>C LOVD substitution exon 1 SGCG:c.124_126del SGCG:c.124_126del LOVD deletion exon 1 SGCG:c.128T>G SGCG:c.128T>G LOVD substitution exon 1 SGCG:c.13delC SGCG:c.13delC LOVD deletion exon 1 SGCG:c.158T>C SGCG:c.158T>C LOVD substitution exon 1 SGCG:c.195+12614G>T SGCG:c.195+12614G>T LOVD substitution intron 1 SGCG:c.195+12798C>T SGCG:c.195+12798C>T LOVD substitution intron 1 SGCG:c.195+3A>T SGCG:c.195+3A>T LOVD substitution intron 1 SGCG:c.195+4549T>C SGCG:c.195+4549T>C LOVD substitution intron 1 SGCG:c.195+4_195+7del SGCG:c.195+4_195+7del LOVD deletion intron 1 SGCG:c.195+8717C>T SGCG:c.195+8717C>T LOVD substitution intron 1 SGCG:c.196-?_297+?del SGCG:c.196-?_297+?del LOVD deletion not within known transcription unit 0 SGCG:c.196-?_297+?dup SGCG:c.196-?_297+?dup LOVD duplication not within known transcription unit 0 SGCG:c.205G>C SGCG:c.205G>C LOVD substitution exon 1 SGCG:c.206G>C SGCG:c.206G>C LOVD substitution exon 1 SGCG:c.228T>C SGCG:c.228T>C LOVD substitution exon 1 SGCG:c.233T>C SGCG:c.233T>C LOVD substitution exon 1 SGCG:c.240G>C SGCG:c.240G>C LOVD substitution exon 1 SGCG:c.244G>A SGCG:c.244G>A LOVD substitution exon 1 SGCG:c.269T>C SGCG:c.269T>C LOVD substitution exon 1 SGCG:c.297+6A>T SGCG:c.297+6A>T LOVD substitution intron 1 SGCG:c.298-1G>A SGCG:c.298-1G>A LOVD substitution intron 1 SGCG:c.298-?_505+?del SGCG:c.298-?_505+?del LOVD deletion not within known transcription unit 0 SGCG:c.307C>G SGCG:c.307C>G LOVD substitution exon 1 SGCG:c.312T>G SGCG:c.312T>G LOVD substitution exon 1 SGCG:c.317A>C SGCG:c.317A>C LOVD substitution exon 1 SGCG:c.31G>T SGCG:c.31G>T LOVD substitution exon 1 SGCG:c.320C>T SGCG:c.320C>T LOVD substitution exon 1 SGCG:c.347G>A SGCG:c.347G>A LOVD substitution exon 1 SGCG:c.355G>T SGCG:c.355G>T LOVD substitution exon 1 SGCG:c.361delG SGCG:c.361delG LOVD deletion exon 1 SGCG:c.386-1G>A SGCG:c.386-1G>A LOVD substitution intron 1 SGCG:c.386-30A>G SGCG:c.386-30A>G LOVD substitution intron 1 SGCG:c.386-?_505+?del SGCG:c.386-?_505+?del LOVD deletion not within known transcription unit 0 SGCG:c.386-?_578+?del SGCG:c.386-?_578+?del LOVD deletion not within known transcription unit 0 SGCG:c.409_417del SGCG:c.409_417del LOVD deletion exon 1 SGCG:c.496C>T SGCG:c.496C>T LOVD substitution exon 1 SGCG:c.505+2T>C SGCG:c.505+2T>C LOVD substitution intron 1 SGCG:c.506-?_578+?del SGCG:c.506-?_578+?del LOVD deletion not within known transcription unit 0 SGCG:c.525delT SGCG:c.525delT LOVD deletion exon 1 SGCG:c.526G>T SGCG:c.526G>T LOVD substitution exon 1 SGCG:c.549dupT SGCG:c.549dupT LOVD duplication exon 1 SGCG:c.551T>G SGCG:c.551T>G LOVD substitution exon 1 SGCG:c.567delT SGCG:c.567delT LOVD deletion exon 1 SGCG:c.578+4524A>G SGCG:c.578+4524A>G LOVD substitution intron 1 SGCG:c.578+677A>G SGCG:c.578+677A>G LOVD substitution intron 1 SGCG:c.578+8664G>T SGCG:c.578+8664G>T LOVD substitution intron 1 SGCG:c.579-17dupT SGCG:c.579-17dupT LOVD duplication intron 1 SGCG:c.579-2A>G SGCG:c.579-2A>G LOVD substitution intron 1 SGCG:c.579-4730_702+1721delinsACACTA SGCG:c.579-4730_702+1721delinsACACTA LOVD complex intron 1 SGCG:c.579-8540C>T SGCG:c.579-8540C>T LOVD substitution intron 1 SGCG:c.579-?_702+?del SGCG:c.579-?_702+?del LOVD deletion not within known transcription unit 0 SGCG:c.581T>C SGCG:c.581T>C LOVD substitution exon 1 SGCG:c.582dupA SGCG:c.582dupA LOVD duplication exon 1 SGCG:c.602dupT SGCG:c.602dupT LOVD duplication exon 1 SGCG:c.629A>G SGCG:c.629A>G LOVD substitution exon 1 SGCG:c.630_702del? SGCG:c.630_702del? LOVD deletion exon 0 SGCG:c.690T>A SGCG:c.690T>A LOVD substitution exon 1 SGCG:c.702+?_703-?dup SGCG:c.702+?_703-?dup LOVD duplication not within known transcription unit 0 SGCG:c.703-18T>C SGCG:c.703-18T>C LOVD substitution intron 1 SGCG:c.705T>C SGCG:c.705T>C LOVD substitution exon 1 SGCG:c.735dupC SGCG:c.735dupC LOVD duplication exon 1 SGCG:c.768delC SGCG:c.768delC LOVD deletion exon 1 SGCG:c.787G>A SGCG:c.787G>A LOVD substitution exon 1 SGCG:c.800_801del SGCG:c.800_801del LOVD deletion exon 1 SGCG:c.801_802del SGCG:c.801_802del LOVD deletion exon 1 SGCG:c.848G>A SGCG:c.848G>A LOVD substitution exon 1 SGCG:c.860G>A SGCG:c.860G>A LOVD substitution exon 1 SGCG:c.87dupT SGCG:c.87dupT LOVD duplication exon 1 SGCG:c.92G>A SGCG:c.92G>A LOVD substitution exon 1 SGCG:c.93G>A SGCG:c.93G>A LOVD substitution exon 1 SGCZ:c.*11T>A SGCZ:c.*11T>A LOVD substitution not within known transcription unit 1 SGCZ:c.*12T>A SGCZ:c.*12T>A LOVD substitution not within known transcription unit 1 SGCZ:c.*437T>C SGCZ:c.*437T>C LOVD substitution not within known transcription unit 1 SGCZ:c.-164T>C SGCZ:c.-164T>C LOVD substitution not within known transcription unit 1 SGCZ:c.-200T>C SGCZ:c.-200T>C LOVD substitution not within known transcription unit 1 SGCZ:c.336+27C>G SGCZ:c.336+27C>G LOVD substitution intron 1 SGCZ:c.337-11A>G SGCZ:c.337-11A>G LOVD substitution intron 1 SGCZ:c.424+32T>C SGCZ:c.424+32T>C LOVD substitution intron 1 SGCZ:c.571C>T SGCZ:c.571C>T LOVD substitution exon 1 SGCZ:c.573C>T SGCZ:c.573C>T LOVD substitution exon 1 SGCZ:c.574T>C SGCZ:c.574T>C LOVD substitution exon 1 SGCZ:c.793T>C SGCZ:c.793T>C LOVD substitution exon 1 SGCZ:c.865G>A SGCZ:c.865G>A LOVD substitution exon 1 SGCZ:c.912dupC SGCZ:c.912dupC LOVD duplication exon 1 SMN1:c.(*239G>A) SMN1:c.(*239G>A) LOVD substitution not within known transcription unit 1 SMN1:c.(840C>T) SMN1:c.(840C>T) LOVD substitution exon 1 SMN1:c.*3+4_*3+7del SMN1:c.*3+4_*3+7del LOVD deletion not within known transcription unit 1 SMN1:c.*3+6T>G SMN1:c.*3+6T>G LOVD substitution not within known transcription unit 1 SMN1:c.*338_*339delinsGC SMN1:c.*338_*339delinsGC LOVD complex not within known transcription unit 1 SMN1:c.-14C>T SMN1:c.-14C>T LOVD substitution not within known transcription unit 1 SMN1:c.131A>T SMN1:c.131A>T LOVD substitution exon 1 SMN1:c.208_209insGTGT SMN1:c.208_209insGTGT LOVD insertion exon 1 SMN1:c.22dupA SMN1:c.22dupA LOVD duplication exon 1 SMN1:c.283G>C SMN1:c.283G>C LOVD substitution exon 1 SMN1:c.305G>A SMN1:c.305G>A LOVD substitution exon 1 SMN1:c.332C>G SMN1:c.332C>G LOVD substitution exon 1 SMN1:c.346A>T SMN1:c.346A>T LOVD substitution exon 1 SMN1:c.399_402del SMN1:c.399_402del LOVD deletion exon 1 SMN1:c.400G>A SMN1:c.400G>A LOVD substitution exon 1 SMN1:c.406C>G SMN1:c.406C>G LOVD substitution exon 1 SMN1:c.439_443del SMN1:c.439_443del LOVD deletion exon 1 SMN1:c.43C>T SMN1:c.43C>T LOVD substitution exon 1 SMN1:c.510_511del SMN1:c.510_511del LOVD deletion exon 1 SMN1:c.524delC SMN1:c.524delC LOVD deletion exon 1 SMN1:c.558delA SMN1:c.558delA LOVD deletion exon 1 SMN1:c.585dupT SMN1:c.585dupT LOVD duplication exon 1 SMN1:c.5C>G SMN1:c.5C>G LOVD substitution exon 1 SMN1:c.628-?_834+?del SMN1:c.628-?_834+?del LOVD deletion not within known transcription unit 0 SMN1:c.683T>A SMN1:c.683T>A LOVD substitution exon 1 SMN1:c.734C>T SMN1:c.734C>T LOVD substitution exon 1 SMN1:c.734dupC SMN1:c.734dupC LOVD duplication exon 1 SMN1:c.740dupC SMN1:c.740dupC LOVD duplication exon 1 SMN1:c.770_780dup SMN1:c.770_780dup LOVD duplication exon 1 SMN1:c.784A>G SMN1:c.784A>G LOVD substitution exon 1 SMN1:c.785G>T SMN1:c.785G>T LOVD substitution exon 1 SMN1:c.81+1dupG SMN1:c.81+1dupG LOVD duplication intron 1 SMN1:c.815A>G SMN1:c.815A>G LOVD substitution exon 1 SMN1:c.821C>T SMN1:c.821C>T LOVD substitution exon 1 SMN1:c.823G>A SMN1:c.823G>A LOVD substitution exon 1 SMN1:c.834+2T>G SMN1:c.834+2T>G LOVD substitution intron 1 SMN1:c.835-18_835-12del SMN1:c.835-18_835-12del LOVD deletion intron 1 SMN1:c.835-24dupT SMN1:c.835-24dupT LOVD duplication intron 1 SMN1:c.835-3C>T SMN1:c.835-3C>T LOVD substitution intron 1 SMN1:c.835G>T SMN1:c.835G>T LOVD substitution exon 1 SMN1:c.836G>T SMN1:c.836G>T LOVD substitution exon 1 SMN1:c.88G>A SMN1:c.88G>A LOVD substitution exon 1 SMN1:c.91dupT SMN1:c.91dupT LOVD duplication exon 1 SSPN:c.286T>C SSPN:c.286T>C LOVD substitution exon 1 SSPN:c.401C>T SSPN:c.401C>T LOVD substitution exon 1 SSPN:c.557G>A SSPN:c.557G>A LOVD substitution exon 1 SSPN:c.682G>A SSPN:c.682G>A LOVD substitution exon 1 SYNE1:c.11909_11910del SYNE1:c.11909_11910del LOVD deletion exon 1 SYNE1:c.12276C>T SYNE1:c.12276C>T LOVD substitution exon 1 SYNE1:c.12362_12363delinsGT SYNE1:c.12362_12363delinsGT LOVD complex exon 1 SYNE1:c.12363G>T SYNE1:c.12363G>T LOVD substitution exon 1 SYNE1:c.15918-12A>G SYNE1:c.15918-12A>G LOVD substitution intron 1 SYNE1:c.16390-2A>G SYNE1:c.16390-2A>G LOVD substitution intron 1 SYNE1:c.17816_17820del SYNE1:c.17816_17820del LOVD deletion exon 1 SYNE1:c.18208-24A>G SYNE1:c.18208-24A>G LOVD substitution intron 1 SYNE1:c.18208-94G>A SYNE1:c.18208-94G>A LOVD substitution intron 1 SYNE1:c.19104+17A>G SYNE1:c.19104+17A>G LOVD substitution intron 1 SYNE1:c.21934C>T SYNE1:c.21934C>T LOVD substitution exon 1 SYNE1:c.22452A>G SYNE1:c.22452A>G LOVD substitution exon 1 SYNE1:c.22473G>A SYNE1:c.22473G>A LOVD substitution exon 1 SYNE1:c.23131C>T SYNE1:c.23131C>T LOVD substitution exon 1 SYNE1:c.23461-698A>G SYNE1:c.23461-698A>G LOVD substitution intron 1 SYNE1:c.24284G>A SYNE1:c.24284G>A LOVD substitution exon 1 SYNE1:c.24313-2A>G SYNE1:c.24313-2A>G LOVD substitution intron 1 SYNE1:c.25159G>T SYNE1:c.25159G>T LOVD substitution exon 1 SYNE1:c.25381G>A SYNE1:c.25381G>A LOVD substitution exon 1 SYNE1:c.26060C>T SYNE1:c.26060C>T LOVD substitution exon 1 SYNE1:c.5190T>A SYNE1:c.5190T>A LOVD substitution exon 1 SYNE1:c.8403C>T SYNE1:c.8403C>T LOVD substitution exon 1 SYNE1:c.8656C>G SYNE1:c.8656C>G LOVD substitution exon 1 SYNE1:c.8693G>A SYNE1:c.8693G>A LOVD substitution exon 1 SYNE1:c.8695A>T SYNE1:c.8695A>T LOVD substitution exon 1 SYNE2:c.(19057-483A>G) SYNE2:c.(19057-483A>G) LOVD substitution intron 1 SYNE2:c.18632C>T SYNE2:c.18632C>T LOVD substitution exon 1 SYNE2:c.19057-64A>G SYNE2:c.19057-64A>G LOVD substitution intron 1 TCAP:c.*199G>T TCAP:c.*199G>T LOVD substitution not within known transcription unit 1 TCAP:c.*377G>C TCAP:c.*377G>C LOVD substitution not within known transcription unit 1 TCAP:c.*395C>T TCAP:c.*395C>T LOVD substitution not within known transcription unit 1 TCAP:c.*76G>T TCAP:c.*76G>T LOVD substitution not within known transcription unit 1 TCAP:c.-178G>T TCAP:c.-178G>T LOVD substitution not within known transcription unit 1 TCAP:c.110+48C>T TCAP:c.110+48C>T LOVD substitution intron 1 TCAP:c.110_110+1del TCAP:c.110_110+1del LOVD deletion not within known transcription unit 1 TCAP:c.145G>A TCAP:c.145G>A LOVD substitution exon 1 TCAP:c.156C>T TCAP:c.156C>T LOVD substitution exon 1 TCAP:c.157C>T TCAP:c.157C>T LOVD substitution exon 1 TCAP:c.171C>G TCAP:c.171C>G LOVD substitution exon 1 TCAP:c.191C>T TCAP:c.191C>T LOVD substitution exon 1 TCAP:c.208C>G TCAP:c.208C>G LOVD substitution exon 1 TCAP:c.225C>A TCAP:c.225C>A LOVD substitution exon 1 TCAP:c.226C>T TCAP:c.226C>T LOVD substitution exon 1 TCAP:c.260G>A TCAP:c.260G>A LOVD substitution exon 1 TCAP:c.269C>T TCAP:c.269C>T LOVD substitution exon 1 TCAP:c.316C>T TCAP:c.316C>T LOVD substitution exon 1 TCAP:c.37_39del TCAP:c.37_39del LOVD deletion exon 1 TCAP:c.394G>C TCAP:c.394G>C LOVD substitution exon 1 TCAP:c.410C>T TCAP:c.410C>T LOVD substitution exon 1 TCAP:c.421C>G TCAP:c.421C>G LOVD substitution exon 1 TCAP:c.447C>T TCAP:c.447C>T LOVD substitution exon 1 TCAP:c.453A>C TCAP:c.453A>C LOVD substitution exon 1 TCAP:c.458G>A TCAP:c.458G>A LOVD substitution exon 1 TCAP:c.53G>A TCAP:c.53G>A LOVD substitution exon 1 TCAP:c.75G>A TCAP:c.75G>A LOVD substitution exon 1 TNNI2:c.15+140G>C TNNI2:c.15+140G>C LOVD substitution intron 1 TNNI2:c.15+21C>G TNNI2:c.15+21C>G LOVD substitution intron 1 TNNI2:c.186+26G>A TNNI2:c.186+26G>A LOVD substitution intron 1 TNNI2:c.466C>T TNNI2:c.466C>T LOVD substitution exon 1 TNNI2:c.499_501del TNNI2:c.499_501del LOVD deletion exon 1 TNNI2:c.521G>A TNNI2:c.521G>A LOVD substitution exon 1 TNNI2:c.527_529del TNNI2:c.527_529del LOVD deletion exon 1 TNNI2:c.60T>C TNNI2:c.60T>C LOVD substitution exon 1 TNNT1:c.-12+30T>C TNNT1:c.-12+30T>C LOVD substitution not within known transcription unit 1 TNNT1:c.-20A>G TNNT1:c.-20A>G LOVD substitution not within known transcription unit 1 TNNT1:c.107-108G>T TNNT1:c.107-108G>T LOVD substitution intron 1 TNNT1:c.193-88T>C TNNT1:c.193-88T>C LOVD substitution intron 1 TNNT1:c.279A>G TNNT1:c.279A>G LOVD substitution exon 1 TNNT1:c.35A>G TNNT1:c.35A>G LOVD substitution exon 1 TNNT1:c.47-13C>T TNNT1:c.47-13C>T LOVD substitution intron 1 TNNT1:c.538G>T TNNT1:c.538G>T LOVD substitution exon 1 TNNT1:c.611+201C>T TNNT1:c.611+201C>T LOVD substitution intron 1 TNNT1:c.792-114C>T TNNT1:c.792-114C>T LOVD substitution intron 1 TNNT1:c.792-278C>A TNNT1:c.792-278C>A LOVD substitution intron 1 TNNT1:c.795G>T TNNT1:c.795G>T LOVD substitution exon 1 TNNT3:c.-18-379C>A TNNT3:c.-18-379C>A LOVD substitution not within known transcription unit 1 TNNT3:c.-18-482G>A TNNT3:c.-18-482G>A LOVD substitution not within known transcription unit 1 TNNT3:c.18-76A>G TNNT3:c.18-76A>G LOVD substitution intron 1 TNNT3:c.188G>A TNNT3:c.188G>A LOVD substitution exon 1 TNNT3:c.32-149A>T TNNT3:c.32-149A>T LOVD substitution intron 1 TNNT3:c.328C>T TNNT3:c.328C>T LOVD substitution exon 1 TNNT3:c.414G>A TNNT3:c.414G>A LOVD substitution exon 1 TNNT3:c.636T>C TNNT3:c.636T>C LOVD substitution exon 1 TNNT3:c.762C>T TNNT3:c.762C>T LOVD substitution exon 1 TPM1:c.118G>A TPM1:c.118G>A LOVD substitution exon 1 TPM1:c.160G>A TPM1:c.160G>A LOVD substitution exon 1 TPM1:c.184G>C TPM1:c.184G>C LOVD substitution exon 1 TPM1:c.188C>T TPM1:c.188C>T LOVD substitution exon 1 TPM1:c.209A>C TPM1:c.209A>C LOVD substitution exon 1 TPM1:c.284T>C TPM1:c.284T>C LOVD substitution exon 1 TPM1:c.403C>A TPM1:c.403C>A LOVD substitution exon 1 TPM1:c.515T>C TPM1:c.515T>C LOVD substitution exon 1 TPM1:c.523G>A TPM1:c.523G>A LOVD substitution exon 1 TPM1:c.539A>G TPM1:c.539A>G LOVD substitution exon 1 TPM1:c.539A>T TPM1:c.539A>T LOVD substitution exon 1 TPM1:c.549T>G TPM1:c.549T>G LOVD substitution exon 1 TPM1:c.554T>G TPM1:c.554T>G LOVD substitution exon 1 TPM1:c.842T>C TPM1:c.842T>C LOVD substitution exon 1 TPM2:c.115-105A>G TPM2:c.115-105A>G LOVD substitution intron 1 TPM2:c.121G>A TPM2:c.121G>A LOVD substitution exon 1 TPM2:c.145_147del TPM2:c.145_147del LOVD deletion exon 1 TPM2:c.154_156dup TPM2:c.154_156dup LOVD duplication exon 1 TPM2:c.20_22del TPM2:c.20_22del LOVD deletion exon 1 TPM2:c.240+4_240+7del TPM2:c.240+4_240+7del LOVD deletion intron 1 TPM2:c.240+5G>A TPM2:c.240+5G>A LOVD substitution intron 1 TPM2:c.271C>G TPM2:c.271C>G LOVD substitution exon 1 TPM2:c.278A>G TPM2:c.278A>G LOVD substitution exon 1 TPM2:c.349G>A TPM2:c.349G>A LOVD substitution exon 1 TPM2:c.397C>T TPM2:c.397C>T LOVD substitution exon 1 TPM2:c.398G>C TPM2:c.398G>C LOVD substitution exon 1 TPM2:c.415_417delGAG TPM2:c.415_417delGAG LOVD deletion exon 1 TPM2:c.440A>C TPM2:c.440A>C LOVD substitution exon 1 TPM2:c.5A>T TPM2:c.5A>T LOVD substitution exon 1 TPM2:c.639+238dupC TPM2:c.639+238dupC LOVD duplication intron 1 TPM2:c.640-215C>G TPM2:c.640-215C>G LOVD substitution intron 1 TPM2:c.654_656del TPM2:c.654_656del LOVD deletion exon 1 TPM2:c.699G>T TPM2:c.699G>T LOVD substitution exon 1 TPM2:c.772+1002dupC TPM2:c.772+1002dupC LOVD duplication intron 1 TPM2:c.773-1034G>A TPM2:c.773-1034G>A LOVD substitution intron 1 TPM2:c.773-3C>A TPM2:c.773-3C>A LOVD substitution intron 1 TPM2:c.773-3dupC TPM2:c.773-3dupC LOVD duplication intron 1 TPM2:c.773-988G>A TPM2:c.773-988G>A LOVD substitution intron 1 TPM3:c.11C>T TPM3:c.11C>T LOVD substitution exon 1 TPM3:c.244-5T>C TPM3:c.244-5T>C LOVD substitution intron 1 TPM3:c.26T>G TPM3:c.26T>G LOVD substitution exon 1 TPM3:c.272G>C TPM3:c.272G>C LOVD substitution exon 1 TPM3:c.298C>A TPM3:c.298C>A LOVD substitution exon 1 TPM3:c.502C>G TPM3:c.502C>G LOVD substitution exon 1 TPM3:c.502C>T TPM3:c.502C>T LOVD substitution exon 1 TPM3:c.503G>A TPM3:c.503G>A LOVD substitution exon 1 TPM3:c.505A>G TPM3:c.505A>G LOVD substitution exon 1 TPM3:c.721G>A TPM3:c.721G>A LOVD substitution exon 1 TPM3:c.733A>G TPM3:c.733A>G LOVD substitution exon 1 TPM3:c.855-1G>A TPM3:c.855-1G>A LOVD substitution intron 1 TPM3:c.855delA TPM3:c.855delA LOVD deletion exon 1 TPM3:c.857A>C TPM3:c.857A>C LOVD substitution exon 1 TPM3:c.94C>T TPM3:c.94C>T LOVD substitution exon 1 TRIM32:c.*129C>T TRIM32:c.*129C>T LOVD substitution not within known transcription unit 1 TRIM32:c.*589G>A TRIM32:c.*589G>A LOVD substitution not within known transcription unit 1 TRIM32:c.1181G>A TRIM32:c.1181G>A LOVD substitution exon 1 TRIM32:c.1254G>A TRIM32:c.1254G>A LOVD substitution exon 1 TRIM32:c.1459G>A TRIM32:c.1459G>A LOVD substitution exon 1 TRIM32:c.1560delC TRIM32:c.1560delC LOVD deletion exon 1 TRIM32:c.1753_1766dup TRIM32:c.1753_1766dup LOVD duplication exon 1 TRIM32:c.1762_1764del TRIM32:c.1762_1764del LOVD deletion exon 1 TRIM32:c.1815T>C TRIM32:c.1815T>C LOVD substitution exon 1 TRIM32:c.388C>T TRIM32:c.388C>T LOVD substitution exon 1 TRIM32:c.770C>G TRIM32:c.770C>G LOVD substitution exon 1 VCP:c.1732G>C VCP:c.1732G>C LOVD substitution exon 1 VCP:c.283C>G VCP:c.283C>G LOVD substitution exon 1 VCP:c.463C>T VCP:c.463C>T LOVD substitution exon 1 VCP:c.464G>A VCP:c.464G>A LOVD substitution exon 1 VCP:c.464G>C VCP:c.464G>C LOVD substitution exon 1 VCP:c.476G>A VCP:c.476G>A LOVD substitution exon 1 VCP:c.572G>A VCP:c.572G>A LOVD substitution exon 1 VCP:c.695C>A VCP:c.695C>A LOVD substitution exon 1 VMA21:c.*6A>G VMA21:c.*6A>G LOVD substitution not within known transcription unit 1 VMA21:c.163+4A>G VMA21:c.163+4A>G LOVD substitution intron 1 VMA21:c.164-7T>G VMA21:c.164-7T>G LOVD substitution intron 1 VMA21:c.272G>C VMA21:c.272G>C LOVD substitution exon 1 VMA21:c.54-27A>C VMA21:c.54-27A>C LOVD substitution intron 1 VMA21:c.54-27A>T VMA21:c.54-27A>T LOVD substitution intron 1 ZMPSTE24:c.*723C>T ZMPSTE24:c.*723C>T LOVD substitution not within known transcription unit 1 ZMPSTE24:c.*890A>G ZMPSTE24:c.*890A>G LOVD substitution not within known transcription unit 1 ZMPSTE24:c.-1149G>A ZMPSTE24:c.-1149G>A LOVD substitution not within known transcription unit 1 ZMPSTE24:c.-1269C>G ZMPSTE24:c.-1269C>G LOVD substitution not within known transcription unit 1 ZMPSTE24:c.-194A>G ZMPSTE24:c.-194A>G LOVD substitution not within known transcription unit 1 ZMPSTE24:c.-326G>A ZMPSTE24:c.-326G>A LOVD substitution not within known transcription unit 1 ZMPSTE24:c.-522C>G ZMPSTE24:c.-522C>G LOVD substitution not within known transcription unit 1 ZMPSTE24:c.-954G>C ZMPSTE24:c.-954G>C LOVD substitution not within known transcription unit 1 ZMPSTE24:c.1018T>C ZMPSTE24:c.1018T>C LOVD substitution exon 1 ZMPSTE24:c.1059+61G>A ZMPSTE24:c.1059+61G>A LOVD substitution intron 1 ZMPSTE24:c.1085dupT ZMPSTE24:c.1085dupT LOVD duplication exon 1 ZMPSTE24:c.1204-5_1210del ZMPSTE24:c.1204-5_1210del LOVD deletion intron 1 ZMPSTE24:c.121C>T ZMPSTE24:c.121C>T LOVD substitution exon 1 ZMPSTE24:c.124-2A>C ZMPSTE24:c.124-2A>C LOVD substitution intron 1 ZMPSTE24:c.1249C>T ZMPSTE24:c.1249C>T LOVD substitution exon 1 ZMPSTE24:c.1263dupT ZMPSTE24:c.1263dupT LOVD duplication exon 1 ZMPSTE24:c.1349G>A ZMPSTE24:c.1349G>A LOVD substitution exon 1 ZMPSTE24:c.1385T>G ZMPSTE24:c.1385T>G LOVD substitution exon 1 ZMPSTE24:c.271-1446_628-127del ZMPSTE24:c.271-1446_628-127del LOVD deletion intron 1 ZMPSTE24:c.296delC ZMPSTE24:c.296delC LOVD deletion exon 1 ZMPSTE24:c.357+114A>G ZMPSTE24:c.357+114A>G LOVD substitution intron 1 ZMPSTE24:c.401delG ZMPSTE24:c.401delG LOVD deletion exon 1 ZMPSTE24:c.474+83A>C ZMPSTE24:c.474+83A>C LOVD substitution intron 1 ZMPSTE24:c.50delA ZMPSTE24:c.50delA LOVD deletion exon 1 ZMPSTE24:c.54dupT ZMPSTE24:c.54dupT LOVD duplication exon 1 ZMPSTE24:c.591dupT ZMPSTE24:c.591dupT LOVD duplication exon 1 ZMPSTE24:c.592_593del ZMPSTE24:c.592_593del LOVD deletion exon 1 ZMPSTE24:c.627+18T>G ZMPSTE24:c.627+18T>G LOVD substitution intron 1 ZMPSTE24:c.627+1G>C ZMPSTE24:c.627+1G>C LOVD substitution intron 1 ZMPSTE24:c.628-50T>G ZMPSTE24:c.628-50T>G LOVD substitution intron 1 ZMPSTE24:c.651T>C ZMPSTE24:c.651T>C LOVD substitution exon 1 ZMPSTE24:c.691G>T ZMPSTE24:c.691G>T LOVD substitution exon 1 ZMPSTE24:c.709G>T ZMPSTE24:c.709G>T LOVD substitution exon 1 ZMPSTE24:c.743C>T ZMPSTE24:c.743C>T LOVD substitution exon 1 ZMPSTE24:c.769+4192C>T ZMPSTE24:c.769+4192C>T LOVD substitution intron 1 ZMPSTE24:c.794A>G ZMPSTE24:c.794A>G LOVD substitution exon 1 TTN_00008 TTN:c.160G>A LOVD substitution exon 1 TTN_00029 TTN:c.982C>T LOVD substitution exon 1 TTN_00001 TTN:c.2219G>T LOVD substitution exon 1 TTN_00007 TTN:c.2228C>T LOVD substitution exon 1 TTN_00003 TTN:c.2926T>C LOVD substitution exon 1 TTN_00013 TTN:c.3380+283AC(12_13) LOVD complex intron 1 TTN_00014 TTN:c.8902+14TA(8_9) LOVD complex intron 1 TTN_00012 TTN:c.11312-5063G>T LOVD substitution intron 1 TTN_00011 TTN:c.12347C>A LOVD substitution exon 1 TTN_00009 TTN:c.13108C>T LOVD substitution exon 1 TTN_00030 TTN:c.13202G>A LOVD substitution exon 1 TTN_00031 TTN:c.13594A>C LOVD substitution exon 1 TTN_00010 TTN:c.14339G>A LOVD substitution exon 1 TTN_00016 TTN:c.17740+64A(10_11) LOVD complex intron 1 TTN_00017 TTN:c.26762-36GTTTT(5_9) LOVD complex intron 1 TTN_00018 TTN:c.30598+153A(11_12) LOVD complex intron 1 TTN_00019 TTN:c.32354-540A(22_25) LOVD complex intron 1 TTN_00020 TTN:c.34333+260AT(13_16) LOVD complex intron 1 TTN_00028 TTN:c.37583-4T>C LOVD substitution intron 1 TTN_00021 TTN:c.40087+3TA(11_15) LOVD complex intron 1 TTN_00022 TTN:c.40163-116TA(21_23) LOVD complex intron 1 TTN_00023 TTN:c.40792+179AT(22_26) LOVD complex intron 1 TTN_00027 TTN:c.64073C>T LOVD substitution exon 1 TTN_00002 TTN:c.70555_70556dup LOVD duplication exon 1 TTN_00026 TTN:c.94912A>G LOVD substitution exon 1 TTN_00025 TTN:c.99961G>A LOVD substitution exon 1 TTN_00004 TTN:c.107645_107655insTGAAAGAAAAA LOVD insertion exon 1 TTN_00006 TTN:c.107705T>A LOVD substitution exon 1 TTN_00005 TTN:c.107732T>C LOVD substitution exon 1 TTN_00024 TTN:c.*99dupA LOVD duplication not within known transcription unit 1 BRIP1:c.1045G>C BRIP1:c.1045G>C Fanconi substitution exon 1 BRIP1:c.1186C>G BRIP1:c.1186C>G Fanconi substitution exon 1 BRIP1:c.1629-498A>T BRIP1:c.1629-498A>T Fanconi substitution intron 1 BRIP1:c.1941G>C BRIP1:c.1941G>C Fanconi substitution exon 1 BRIP1:c.205+5G>T BRIP1:c.205+5G>T Fanconi substitution intron 1 BRIP1:c.2119C>T BRIP1:c.2119C>T Fanconi substitution exon 1 BRIP1:c.2255_2256delAA BRIP1:c.2255_2256delAA Fanconi deletion exon 1 BRIP1:c.2392C>T BRIP1:c.2392C>T Fanconi substitution exon 1 BRIP1:c.2400C>G BRIP1:c.2400C>G Fanconi substitution exon 1 BRIP1:c.2492+2dupT BRIP1:c.2492+2dupT Fanconi duplication intron 1 BRIP1:c.751C>T BRIP1:c.751C>T Fanconi substitution exon 1 BRIP1:c.765G>T BRIP1:c.765G>T Fanconi substitution exon 1 FANCA:c.(3971G>T)? FANCA:c.(3971G>T)? Fanconi substitution exon 0 FANCA:c.-42-?_1006+?del FANCA:c.-42-?_1006+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_1359+?del FANCA:c.-42-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_1826+?del FANCA:c.-42-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_1900+?del FANCA:c.-42-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_283+?del FANCA:c.-42-?_283+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_2852+?del FANCA:c.-42-?_2852+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_2981+?del FANCA:c.-42-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_3066+?del FANCA:c.-42-?_3066+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_3626+?del FANCA:c.-42-?_3626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_3765+?del FANCA:c.-42-?_3765+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_3828+?del FANCA:c.-42-?_3828+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_4368+?del FANCA:c.-42-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_522+?del FANCA:c.-42-?_522+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_5481+?del FANCA:c.-42-?_5481+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_596+?del FANCA:c.-42-?_596+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_709+?del FANCA:c.-42-?_709+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_79+?del FANCA:c.-42-?_79+?del Fanconi deletion not within known transcription unit 0 FANCA:c.-42-?_792+?del FANCA:c.-42-?_792+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1006+2_1006+5delTAGG FANCA:c.1006+2_1006+5delTAGG Fanconi deletion intron 1 FANCA:c.1007-10_2504+209del FANCA:c.1007-10_2504+209del Fanconi deletion intron 1 FANCA:c.1007-1delG FANCA:c.1007-1delG Fanconi deletion intron 1 FANCA:c.1007-?_1359+?del FANCA:c.1007-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1007-?_1626+?del FANCA:c.1007-?_1626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1007-?_2151+?del FANCA:c.1007-?_2151+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1007-?_3066+?del FANCA:c.1007-?_3066+?del Fanconi deletion not within known transcription unit 0 FANCA:c.100A>T FANCA:c.100A>T Fanconi substitution exon 1 FANCA:c.1027C>T FANCA:c.1027C>T Fanconi substitution exon 1 FANCA:c.1034_1035delAG FANCA:c.1034_1035delAG Fanconi deletion exon 1 FANCA:c.1073T>G FANCA:c.1073T>G Fanconi substitution exon 1 FANCA:c.1084-?_1225+?del FANCA:c.1084-?_1225+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1084-?_1359+?del FANCA:c.1084-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1084-?_2316+?del FANCA:c.1084-?_2316+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1115_1118delTTGG FANCA:c.1115_1118delTTGG Fanconi deletion exon 1 FANCA:c.1124T>G FANCA:c.1124T>G Fanconi substitution exon 1 FANCA:c.1147delG FANCA:c.1147delG Fanconi deletion exon 1 FANCA:c.1153C>T FANCA:c.1153C>T Fanconi substitution exon 1 FANCA:c.1164_1165delAG FANCA:c.1164_1165delAG Fanconi deletion exon 1 FANCA:c.1191_1194delTGTC FANCA:c.1191_1194delTGTC Fanconi deletion exon 1 FANCA:c.1193_1196delTCTG FANCA:c.1193_1196delTCTG Fanconi deletion exon 1 FANCA:c.11C>A FANCA:c.11C>A Fanconi substitution exon 1 FANCA:c.1220T>G FANCA:c.1220T>G Fanconi substitution exon 1 FANCA:c.1226-2A>G FANCA:c.1226-2A>G Fanconi substitution intron 1 FANCA:c.1226-6_1226-2del FANCA:c.1226-6_1226-2del Fanconi deletion intron 1 FANCA:c.1267C>T FANCA:c.1267C>T Fanconi substitution exon 1 FANCA:c.128T>A FANCA:c.128T>A Fanconi substitution exon 1 FANCA:c.1292dupT FANCA:c.1292dupT Fanconi duplication exon 1 FANCA:c.1303C>T FANCA:c.1303C>T Fanconi substitution exon 1 FANCA:c.1304G>A FANCA:c.1304G>A Fanconi substitution exon 1 FANCA:c.1340C>G FANCA:c.1340C>G Fanconi substitution exon 1 FANCA:c.1359+1G>C FANCA:c.1359+1G>C Fanconi substitution intron 1 FANCA:c.1360-?_1470+?del FANCA:c.1360-?_1470+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1360-?_1626+?del FANCA:c.1360-?_1626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1360-?_1826+?del FANCA:c.1360-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1360-?_1900+?del FANCA:c.1360-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1360-?_1900+?dup FANCA:c.1360-?_1900+?dup Fanconi duplication not within known transcription unit 0 FANCA:c.1360-?_2151+?del FANCA:c.1360-?_2151+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1360-?_4368+?del FANCA:c.1360-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.13G>A FANCA:c.13G>A Fanconi substitution exon 1 FANCA:c.1430delT FANCA:c.1430delT Fanconi deletion exon 1 FANCA:c.1459dupC FANCA:c.1459dupC Fanconi duplication exon 1 FANCA:c.1464C>G FANCA:c.1464C>G Fanconi substitution exon 1 FANCA:c.1470+1G>T FANCA:c.1470+1G>T Fanconi substitution intron 1 FANCA:c.1470G>A FANCA:c.1470G>A Fanconi substitution exon 1 FANCA:c.1471-1G>T FANCA:c.1471-1G>T Fanconi substitution intron 1 FANCA:c.1471-?_1566+?del FANCA:c.1471-?_1566+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_1626+?del FANCA:c.1471-?_1626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_1715+?del FANCA:c.1471-?_1715+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_1826+?del FANCA:c.1471-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_2014+?del FANCA:c.1471-?_2014+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_2151+?del FANCA:c.1471-?_2151+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_2504+?del FANCA:c.1471-?_2504+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_2981+?del FANCA:c.1471-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1471-?_4010+?del FANCA:c.1471-?_4010+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1475A>G FANCA:c.1475A>G Fanconi substitution exon 1 FANCA:c.1475A>T FANCA:c.1475A>T Fanconi substitution exon 1 FANCA:c.1535C>G FANCA:c.1535C>G Fanconi substitution exon 1 FANCA:c.154C>T FANCA:c.154C>T Fanconi substitution exon 1 FANCA:c.1566+3A>C FANCA:c.1566+3A>C Fanconi substitution intron 1 FANCA:c.1567-20A>G FANCA:c.1567-20A>G Fanconi substitution intron 1 FANCA:c.1615delG FANCA:c.1615delG Fanconi deletion exon 1 FANCA:c.1627-1G>T FANCA:c.1627-1G>T Fanconi substitution intron 1 FANCA:c.1627-?_1715+?del FANCA:c.1627-?_1715+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_1826+?del FANCA:c.1627-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_1900+?del FANCA:c.1627-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_2151+?del FANCA:c.1627-?_2151+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_2316+?del FANCA:c.1627-?_2316+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_2778+?del FANCA:c.1627-?_2778+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_2852+?del FANCA:c.1627-?_2852+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1627-?_3765+?del FANCA:c.1627-?_3765+?del Fanconi deletion not within known transcription unit 0 FANCA:c.163C>T FANCA:c.163C>T Fanconi substitution exon 1 FANCA:c.1645C>T FANCA:c.1645C>T Fanconi substitution exon 1 FANCA:c.1683_1689delGGGGAAC FANCA:c.1683_1689delGGGGAAC Fanconi deletion exon 1 FANCA:c.1703delT FANCA:c.1703delT Fanconi deletion exon 1 FANCA:c.1716-?_1776+?del FANCA:c.1716-?_1776+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1716-?_1900+?del FANCA:c.1716-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.171_172insT FANCA:c.171_172insT Fanconi insertion exon 1 FANCA:c.1738_1742delinsCCGCCT FANCA:c.1738_1742delinsCCGCCT Fanconi complex exon 1 FANCA:c.173dupA FANCA:c.173dupA Fanconi duplication exon 1 FANCA:c.1771C>T FANCA:c.1771C>T Fanconi substitution exon 1 FANCA:c.1777-7_1779del FANCA:c.1777-7_1779del Fanconi deletion intron 1 FANCA:c.1777-?_1826+?del FANCA:c.1777-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1777-?_2014+?del FANCA:c.1777-?_2014+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1792G>A FANCA:c.1792G>A Fanconi substitution exon 1 FANCA:c.1814_1815delAG FANCA:c.1814_1815delAG Fanconi deletion exon 1 FANCA:c.1827-1G>A FANCA:c.1827-1G>A Fanconi substitution intron 1 FANCA:c.1827-?_2014+?del FANCA:c.1827-?_2014+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1827-?_2504+?del FANCA:c.1827-?_2504+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1827-?_2778+?del FANCA:c.1827-?_2778+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1827-?_2852+?del FANCA:c.1827-?_2852+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1827-?_2981+?del FANCA:c.1827-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1844delC FANCA:c.1844delC Fanconi deletion exon 1 FANCA:c.1873G>C FANCA:c.1873G>C Fanconi substitution exon 1 FANCA:c.189+2T>A FANCA:c.189+2T>A Fanconi substitution intron 1 FANCA:c.190-1G>C FANCA:c.190-1G>C Fanconi substitution intron 1 FANCA:c.190-1G>T FANCA:c.190-1G>T Fanconi substitution intron 1 FANCA:c.190-?_283+?del FANCA:c.190-?_283+?del Fanconi deletion not within known transcription unit 0 FANCA:c.190-?_4368+?del FANCA:c.190-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.190-?_596+?del FANCA:c.190-?_596+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1901-?_2778+?del FANCA:c.1901-?_2778+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1901-?_2981+?del FANCA:c.1901-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.1944delG FANCA:c.1944delG Fanconi deletion exon 1 FANCA:c.1979T>C FANCA:c.1979T>C Fanconi substitution exon 1 FANCA:c.1A>C FANCA:c.1A>C Fanconi substitution exon 1 FANCA:c.1A>G FANCA:c.1A>G Fanconi substitution exon 1 FANCA:c.1A>T FANCA:c.1A>T Fanconi substitution exon 1 FANCA:c.2005C>T FANCA:c.2005C>T Fanconi substitution exon 1 FANCA:c.2014+1G>C FANCA:c.2014+1G>C Fanconi substitution intron 1 FANCA:c.2015-1G>T FANCA:c.2015-1G>T Fanconi substitution intron 1 FANCA:c.2015-?_2151+?del FANCA:c.2015-?_2151+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2015-?_2852+?del FANCA:c.2015-?_2852+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2015-?_3348+?del FANCA:c.2015-?_3348+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2021C>A FANCA:c.2021C>A Fanconi substitution exon 1 FANCA:c.2026C>T FANCA:c.2026C>T Fanconi substitution exon 1 FANCA:c.2051T>C FANCA:c.2051T>C Fanconi substitution exon 1 FANCA:c.2054G>C FANCA:c.2054G>C Fanconi substitution exon 1 FANCA:c.2066delG FANCA:c.2066delG Fanconi deletion exon 1 FANCA:c.2107C>T FANCA:c.2107C>T Fanconi substitution exon 1 FANCA:c.2151+2_2151+3insG FANCA:c.2151+2_2151+3insG Fanconi insertion intron 1 FANCA:c.2151+328_2778+1085del FANCA:c.2151+328_2778+1085del Fanconi deletion intron 1 FANCA:c.2151G>T FANCA:c.2151G>T Fanconi substitution exon 1 FANCA:c.2152-?_2778+?del FANCA:c.2152-?_2778+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2152-?_3348+?del FANCA:c.2152-?_3348+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2167_2169delCTG FANCA:c.2167_2169delCTG Fanconi deletion exon 1 FANCA:c.2170A>C FANCA:c.2170A>C Fanconi substitution exon 1 FANCA:c.2172dupG FANCA:c.2172dupG Fanconi duplication exon 1 FANCA:c.2175_2182del FANCA:c.2175_2182del Fanconi deletion exon 1 FANCA:c.2189T>C FANCA:c.2189T>C Fanconi substitution exon 1 FANCA:c.2222+1G>C FANCA:c.2222+1G>C Fanconi substitution intron 1 FANCA:c.2222+8C>T FANCA:c.2222+8C>T Fanconi substitution intron 1 FANCA:c.2223-3C>G FANCA:c.2223-3C>G Fanconi substitution intron 1 FANCA:c.2224C>A FANCA:c.2224C>A Fanconi substitution exon 1 FANCA:c.2233dupT FANCA:c.2233dupT Fanconi duplication exon 1 FANCA:c.2282T>A FANCA:c.2282T>A Fanconi substitution exon 1 FANCA:c.2290C>T FANCA:c.2290C>T Fanconi substitution exon 1 FANCA:c.2303T>C FANCA:c.2303T>C Fanconi substitution exon 1 FANCA:c.2314C>T FANCA:c.2314C>T Fanconi substitution exon 1 FANCA:c.2316+1G>T FANCA:c.2316+1G>T Fanconi substitution intron 1 FANCA:c.2316_2316+2delGGT FANCA:c.2316_2316+2delGGT Fanconi deletion not within known transcription unit 1 FANCA:c.2317-?_3348+?del FANCA:c.2317-?_3348+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2327dupT FANCA:c.2327dupT Fanconi duplication exon 1 FANCA:c.233_236delTTGA FANCA:c.233_236delTTGA Fanconi deletion exon 1 FANCA:c.2348G>T FANCA:c.2348G>T Fanconi substitution exon 1 FANCA:c.2351dupT FANCA:c.2351dupT Fanconi duplication exon 1 FANCA:c.2362G>C FANCA:c.2362G>C Fanconi substitution exon 1 FANCA:c.238delT FANCA:c.238delT Fanconi deletion exon 1 FANCA:c.240_241delTG FANCA:c.240_241delTG Fanconi deletion exon 1 FANCA:c.2450T>C FANCA:c.2450T>C Fanconi substitution exon 1 FANCA:c.2495_2497delTCT FANCA:c.2495_2497delTCT Fanconi deletion exon 1 FANCA:c.24C>G FANCA:c.24C>G Fanconi substitution exon 1 FANCA:c.2504+134A>G FANCA:c.2504+134A>G Fanconi substitution intron 1 FANCA:c.2504+1G>A FANCA:c.2504+1G>A Fanconi substitution intron 1 FANCA:c.2504+2T>C FANCA:c.2504+2T>C Fanconi substitution intron 1 FANCA:c.2505-?_2981+?del FANCA:c.2505-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2505-?_4368+?del FANCA:c.2505-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2505_3626del FANCA:c.2505_3626del Fanconi deletion exon 1 FANCA:c.2513C>G FANCA:c.2513C>G Fanconi substitution exon 1 FANCA:c.2524delT FANCA:c.2524delT Fanconi deletion exon 1 FANCA:c.2527T>G FANCA:c.2527T>G Fanconi substitution exon 1 FANCA:c.2529C>A FANCA:c.2529C>A Fanconi substitution exon 1 FANCA:c.2533_2536delCTCT FANCA:c.2533_2536delCTCT Fanconi deletion exon 1 FANCA:c.2534T>C FANCA:c.2534T>C Fanconi substitution exon 1 FANCA:c.2535_2536delCT FANCA:c.2535_2536delCT Fanconi deletion exon 1 FANCA:c.2546delC FANCA:c.2546delC Fanconi deletion exon 1 FANCA:c.2557C>T FANCA:c.2557C>T Fanconi substitution exon 1 FANCA:c.2574C>G FANCA:c.2574C>G Fanconi substitution exon 1 FANCA:c.258T>A FANCA:c.258T>A Fanconi substitution exon 1 FANCA:c.2601G>T FANCA:c.2601G>T Fanconi substitution exon 1 FANCA:c.2602-1G>A FANCA:c.2602-1G>A Fanconi substitution intron 1 FANCA:c.2602-2A>C FANCA:c.2602-2A>C Fanconi substitution intron 1 FANCA:c.2602-2A>T FANCA:c.2602-2A>T Fanconi substitution intron 1 FANCA:c.2602-?_2852+?del FANCA:c.2602-?_2852+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2602-?_2981+?del FANCA:c.2602-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2602-?_3239+?del FANCA:c.2602-?_3239+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2602-?_4368+?del FANCA:c.2602-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2602T>G FANCA:c.2602T>G Fanconi substitution exon 1 FANCA:c.2604_2609delTCAGTT FANCA:c.2604_2609delTCAGTT Fanconi deletion exon 1 FANCA:c.2606A>C FANCA:c.2606A>C Fanconi substitution exon 1 FANCA:c.2632G>C FANCA:c.2632G>C Fanconi substitution exon 1 FANCA:c.2636C>T FANCA:c.2636C>T Fanconi substitution exon 1 FANCA:c.2638C>T FANCA:c.2638C>T Fanconi substitution exon 1 FANCA:c.2639G>A FANCA:c.2639G>A Fanconi substitution exon 1 FANCA:c.2641C>T FANCA:c.2641C>T Fanconi substitution exon 1 FANCA:c.2674delT FANCA:c.2674delT Fanconi deletion exon 1 FANCA:c.2678G>A FANCA:c.2678G>A Fanconi substitution exon 1 FANCA:c.2708G>A FANCA:c.2708G>A Fanconi substitution exon 1 FANCA:c.2723T>C FANCA:c.2723T>C Fanconi substitution exon 1 FANCA:c.2730_2731delCT FANCA:c.2730_2731delCT Fanconi deletion exon 1 FANCA:c.2736dupA FANCA:c.2736dupA Fanconi duplication exon 1 FANCA:c.2738A>C FANCA:c.2738A>C Fanconi substitution exon 1 FANCA:c.275C>A FANCA:c.275C>A Fanconi substitution exon 1 FANCA:c.2778+1G>A FANCA:c.2778+1G>A Fanconi substitution intron 1 FANCA:c.2778+1G>T FANCA:c.2778+1G>T Fanconi substitution intron 1 FANCA:c.2778+83C>G FANCA:c.2778+83C>G Fanconi substitution intron 1 FANCA:c.2779_2852del FANCA:c.2779_2852del Fanconi deletion exon 1 FANCA:c.2779_3066del FANCA:c.2779_3066del Fanconi deletion exon 1 FANCA:c.2779_3348del FANCA:c.2779_3348del Fanconi deletion exon 1 FANCA:c.2794T>C FANCA:c.2794T>C Fanconi substitution exon 1 FANCA:c.2806G>A FANCA:c.2806G>A Fanconi substitution exon 1 FANCA:c.2807A>G FANCA:c.2807A>G Fanconi substitution exon 1 FANCA:c.2812_2830dup FANCA:c.2812_2830dup Fanconi duplication exon 1 FANCA:c.2815_2816ins19 FANCA:c.2815_2816ins19 Fanconi insertion exon 1 FANCA:c.2826_2844dup19 FANCA:c.2826_2844dup19 Fanconi duplication exon 1 FANCA:c.283+1G>T FANCA:c.283+1G>T Fanconi substitution intron 1 FANCA:c.283+3A>C FANCA:c.283+3A>C Fanconi substitution intron 1 FANCA:c.2830_2831ins19 FANCA:c.2830_2831ins19 Fanconi insertion exon 1 FANCA:c.283delT FANCA:c.283delT Fanconi deletion exon 1 FANCA:c.284-?_2504+?del FANCA:c.284-?_2504+?del Fanconi deletion not within known transcription unit 0 FANCA:c.284-?_4010+?del FANCA:c.284-?_4010+?del Fanconi deletion not within known transcription unit 0 FANCA:c.284-?_522+?del FANCA:c.284-?_522+?del Fanconi deletion not within known transcription unit 0 FANCA:c.284-?_596+?del FANCA:c.284-?_596+?del Fanconi deletion not within known transcription unit 0 FANCA:c.284-?_709+?del FANCA:c.284-?_709+?del Fanconi deletion not within known transcription unit 0 FANCA:c.284-?_792+?del FANCA:c.284-?_792+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2840C>G FANCA:c.2840C>G Fanconi substitution exon 1 FANCA:c.284delG FANCA:c.284delG Fanconi deletion exon 1 FANCA:c.284_522del FANCA:c.284_522del Fanconi deletion exon 1 FANCA:c.2851C>T FANCA:c.2851C>T Fanconi substitution exon 1 FANCA:c.2852G>A FANCA:c.2852G>A Fanconi substitution exon 1 FANCA:c.2853-19_2853-1del FANCA:c.2853-19_2853-1del Fanconi deletion intron 1 FANCA:c.2853-2A>C FANCA:c.2853-2A>C Fanconi substitution intron 1 FANCA:c.2853-?_2981+?del FANCA:c.2853-?_2981+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2853-?_3066+?del FANCA:c.2853-?_3066+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2853-?_3239+?del FANCA:c.2853-?_3239+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2853-?_4368+?del FANCA:c.2853-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2854C>T FANCA:c.2854C>T Fanconi substitution exon 1 FANCA:c.2860T>A FANCA:c.2860T>A Fanconi substitution exon 1 FANCA:c.2866C>T FANCA:c.2866C>T Fanconi substitution exon 1 FANCA:c.2870G>A FANCA:c.2870G>A Fanconi substitution exon 1 FANCA:c.2872delG FANCA:c.2872delG Fanconi deletion exon 1 FANCA:c.295C>T FANCA:c.295C>T Fanconi substitution exon 1 FANCA:c.2982-?_3066+?del FANCA:c.2982-?_3066+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2982-?_4260+?del FANCA:c.2982-?_4260+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2982-?_4368+?del FANCA:c.2982-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.2982_3066del FANCA:c.2982_3066del Fanconi deletion exon 1 FANCA:c.2982_3348del FANCA:c.2982_3348del Fanconi deletion exon 1 FANCA:c.2989A>T FANCA:c.2989A>T Fanconi substitution exon 1 FANCA:c.2T>C FANCA:c.2T>C Fanconi substitution exon 1 FANCA:c.2T>G FANCA:c.2T>G Fanconi substitution exon 1 FANCA:c.3021_3027del FANCA:c.3021_3027del Fanconi deletion exon 1 FANCA:c.3043G>A FANCA:c.3043G>A Fanconi substitution exon 1 FANCA:c.3061_3154del FANCA:c.3061_3154del Fanconi deletion exon 1 FANCA:c.3066+1G>A FANCA:c.3066+1G>A Fanconi substitution intron 1 FANCA:c.3067-1G>A FANCA:c.3067-1G>A Fanconi substitution intron 1 FANCA:c.3091C>T FANCA:c.3091C>T Fanconi substitution exon 1 FANCA:c.3130C>T FANCA:c.3130C>T Fanconi substitution exon 1 FANCA:c.3141_3146del6 FANCA:c.3141_3146del6 Fanconi deletion exon 1 FANCA:c.3163C>T FANCA:c.3163C>T Fanconi substitution exon 1 FANCA:c.3164G>A FANCA:c.3164G>A Fanconi substitution exon 1 FANCA:c.3164G>T FANCA:c.3164G>T Fanconi substitution exon 1 FANCA:c.3188G>A FANCA:c.3188G>A Fanconi substitution exon 1 FANCA:c.3239+82T>G FANCA:c.3239+82T>G Fanconi substitution intron 1 FANCA:c.3239G>A FANCA:c.3239G>A Fanconi substitution exon 1 FANCA:c.3239G>T FANCA:c.3239G>T Fanconi substitution exon 1 FANCA:c.3240-1G>A FANCA:c.3240-1G>A Fanconi substitution intron 1 FANCA:c.3240-2A>G FANCA:c.3240-2A>G Fanconi substitution intron 1 FANCA:c.3240-?_3626+?del FANCA:c.3240-?_3626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.3263C>T FANCA:c.3263C>T Fanconi substitution exon 1 FANCA:c.3266T>G FANCA:c.3266T>G Fanconi substitution exon 1 FANCA:c.3286C>T FANCA:c.3286C>T Fanconi substitution exon 1 FANCA:c.3288G>C FANCA:c.3288G>C Fanconi substitution exon 1 FANCA:c.3316G>A FANCA:c.3316G>A Fanconi substitution exon 1 FANCA:c.3329A>C FANCA:c.3329A>C Fanconi substitution exon 1 FANCA:c.3338A>T FANCA:c.3338A>T Fanconi substitution exon 1 FANCA:c.3339C>G FANCA:c.3339C>G Fanconi substitution exon 1 FANCA:c.3348+18A>G FANCA:c.3348+18A>G Fanconi substitution intron 1 FANCA:c.3348+1G>A FANCA:c.3348+1G>A Fanconi substitution intron 1 FANCA:c.3348+6G>A FANCA:c.3348+6G>A Fanconi substitution intron 1 FANCA:c.3349A>G FANCA:c.3349A>G Fanconi substitution exon 1 FANCA:c.3350G>C FANCA:c.3350G>C Fanconi substitution exon 1 FANCA:c.337_338delTC FANCA:c.337_338delTC Fanconi deletion exon 1 FANCA:c.3382C>G FANCA:c.3382C>G Fanconi substitution exon 1 FANCA:c.3386A>T FANCA:c.3386A>T Fanconi substitution exon 1 FANCA:c.3391A>G FANCA:c.3391A>G Fanconi substitution exon 1 FANCA:c.3396_3399delCCAC FANCA:c.3396_3399delCCAC Fanconi deletion exon 1 FANCA:c.3397delC FANCA:c.3397delC Fanconi deletion exon 1 FANCA:c.3398delA FANCA:c.3398delA Fanconi deletion exon 1 FANCA:c.3403_3405del FANCA:c.3403_3405del Fanconi deletion exon 1 FANCA:c.3408+1G>A FANCA:c.3408+1G>A Fanconi substitution intron 1 FANCA:c.3424T>C FANCA:c.3424T>C Fanconi substitution exon 1 FANCA:c.3490C>T FANCA:c.3490C>T Fanconi substitution exon 1 FANCA:c.3513G>A FANCA:c.3513G>A Fanconi substitution exon 1 FANCA:c.3514-?_3626+?del FANCA:c.3514-?_3626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.3520_3522delTGG FANCA:c.3520_3522delTGG Fanconi deletion exon 1 FANCA:c.3555G>A FANCA:c.3555G>A Fanconi substitution exon 1 FANCA:c.3558dupG FANCA:c.3558dupG Fanconi duplication exon 1 FANCA:c.3581C>T FANCA:c.3581C>T Fanconi substitution exon 1 FANCA:c.3592C>T FANCA:c.3592C>T Fanconi substitution exon 1 FANCA:c.3602_3604del FANCA:c.3602_3604del Fanconi deletion exon 1 FANCA:c.3611G>C FANCA:c.3611G>C Fanconi substitution exon 1 FANCA:c.3624C>T FANCA:c.3624C>T Fanconi substitution exon 1 FANCA:c.3627-2_3627-3del FANCA:c.3627-2_3627-3del Fanconi deletion intron 1 FANCA:c.3629dupT FANCA:c.3629dupT Fanconi duplication exon 1 FANCA:c.3638_3639delCT FANCA:c.3638_3639delCT Fanconi deletion exon 1 FANCA:c.3639delT FANCA:c.3639delT Fanconi deletion exon 1 FANCA:c.3696delT FANCA:c.3696delT Fanconi deletion exon 1 FANCA:c.3715G>T FANCA:c.3715G>T Fanconi substitution exon 1 FANCA:c.3715_3729del FANCA:c.3715_3729del Fanconi deletion exon 1 FANCA:c.3720_3724del FANCA:c.3720_3724del Fanconi deletion exon 1 FANCA:c.3746T>C FANCA:c.3746T>C Fanconi substitution exon 1 FANCA:c.3760G>T FANCA:c.3760G>T Fanconi substitution exon 1 FANCA:c.3760_3761delGA FANCA:c.3760_3761delGA Fanconi deletion exon 1 FANCA:c.3761_3764dupAGGA FANCA:c.3761_3764dupAGGA Fanconi duplication exon 1 FANCA:c.3762_3763insAG FANCA:c.3762_3763insAG Fanconi insertion exon 1 FANCA:c.3765+1G>T FANCA:c.3765+1G>T Fanconi substitution intron 1 FANCA:c.3766-2A>G FANCA:c.3766-2A>G Fanconi substitution intron 1 VAR_053339 Q8NGI2:p.Trp209Gly SP substitution exon 1 FANCA:c.3766-?_3828+?del FANCA:c.3766-?_3828+?del Fanconi deletion not within known transcription unit 0 FANCA:c.3774_3776delTTT FANCA:c.3774_3776delTTT Fanconi deletion exon 1 FANCA:c.3786C>G FANCA:c.3786C>G Fanconi substitution exon 1 FANCA:c.3788_3790delTCT FANCA:c.3788_3790delTCT Fanconi deletion exon 1 FANCA:c.3813dupA FANCA:c.3813dupA Fanconi duplication exon 1 FANCA:c.3828+1G>T FANCA:c.3828+1G>T Fanconi substitution intron 1 FANCA:c.3828+2dupT FANCA:c.3828+2dupT Fanconi duplication intron 1 FANCA:c.3829-1G>C FANCA:c.3829-1G>C Fanconi substitution intron 1 FANCA:c.3829-?_4368+?del FANCA:c.3829-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.3846_3856del11 FANCA:c.3846_3856del11 Fanconi deletion exon 1 FANCA:c.3878delA FANCA:c.3878delA Fanconi deletion exon 1 FANCA:c.3884T>A FANCA:c.3884T>A Fanconi substitution exon 1 FANCA:c.3904T>C FANCA:c.3904T>C Fanconi substitution exon 1 FANCA:c.3913C>T FANCA:c.3913C>T Fanconi substitution exon 1 FANCA:c.3917_3918delTT FANCA:c.3917_3918delTT Fanconi deletion exon 1 FANCA:c.3918dupT FANCA:c.3918dupT Fanconi duplication exon 1 FANCA:c.3920delA FANCA:c.3920delA Fanconi deletion exon 1 FANCA:c.3926_3929delCAGA FANCA:c.3926_3929delCAGA Fanconi deletion exon 1 FANCA:c.3934+1G>A FANCA:c.3934+1G>A Fanconi substitution intron 1 FANCA:c.3934+1_3934+18del FANCA:c.3934+1_3934+18del Fanconi deletion intron 1 FANCA:c.3934+2T>C FANCA:c.3934+2T>C Fanconi substitution intron 1 FANCA:c.3971C>T FANCA:c.3971C>T Fanconi substitution exon 1 FANCA:c.3973G>C FANCA:c.3973G>C Fanconi substitution exon 1 FANCA:c.3982A>G FANCA:c.3982A>G Fanconi substitution exon 1 FANCA:c.4009A>G FANCA:c.4009A>G Fanconi substitution exon 1 FANCA:c.4010+1G>A FANCA:c.4010+1G>A Fanconi substitution intron 1 FANCA:c.4010+1_4010+18del FANCA:c.4010+1_4010+18del Fanconi deletion intron 1 FANCA:c.4010G>A FANCA:c.4010G>A Fanconi substitution exon 1 FANCA:c.4010_4010+18del FANCA:c.4010_4010+18del Fanconi deletion not within known transcription unit 1 FANCA:c.4015delC FANCA:c.4015delC Fanconi deletion exon 1 FANCA:c.4015_4017del FANCA:c.4015_4017del Fanconi deletion exon 1 FANCA:c.4017_4021delCTCCT FANCA:c.4017_4021delCTCCT Fanconi deletion exon 1 FANCA:c.401dupC FANCA:c.401dupC Fanconi duplication exon 1 FANCA:c.4036G>A FANCA:c.4036G>A Fanconi substitution exon 1 FANCA:c.4064_4065dupAT FANCA:c.4064_4065dupAT Fanconi duplication exon 1 FANCA:c.4069G>C FANCA:c.4069G>C Fanconi substitution exon 1 FANCA:c.4069_4082del14 FANCA:c.4069_4082del14 Fanconi deletion exon 1 FANCA:c.4075G>T FANCA:c.4075G>T Fanconi substitution exon 1 FANCA:c.4080G>C FANCA:c.4080G>C Fanconi substitution exon 1 FANCA:c.4083_4084insG FANCA:c.4083_4084insG Fanconi insertion exon 1 FANCA:c.4123_4139del17 FANCA:c.4123_4139del17 Fanconi deletion exon 1 FANCA:c.4124_4125delCA FANCA:c.4124_4125delCA Fanconi deletion exon 1 FANCA:c.4130C>G FANCA:c.4130C>G Fanconi substitution exon 1 FANCA:c.4143_4144ins37 FANCA:c.4143_4144ins37 Fanconi insertion exon 1 FANCA:c.4168-1G>C FANCA:c.4168-1G>C Fanconi substitution intron 1 FANCA:c.4168-2A>G FANCA:c.4168-2A>G Fanconi substitution intron 1 FANCA:c.416_417delTG FANCA:c.416_417delTG Fanconi deletion exon 1 FANCA:c.4195G>C FANCA:c.4195G>C Fanconi substitution exon 1 FANCA:c.4198C>T FANCA:c.4198C>T Fanconi substitution exon 1 FANCA:c.4199G>A FANCA:c.4199G>A Fanconi substitution exon 1 FANCA:c.4240_4241del FANCA:c.4240_4241del Fanconi deletion exon 1 FANCA:c.4249C>G FANCA:c.4249C>G Fanconi substitution exon 1 FANCA:c.424A>T FANCA:c.424A>T Fanconi substitution exon 1 FANCA:c.426+2T>G FANCA:c.426+2T>G Fanconi substitution intron 1 FANCA:c.4261-19_4261-12del FANCA:c.4261-19_4261-12del Fanconi deletion intron 1 FANCA:c.4261-2A>G FANCA:c.4261-2A>G Fanconi substitution intron 1 FANCA:c.4261-3C>G FANCA:c.4261-3C>G Fanconi substitution intron 1 FANCA:c.4267_4368+36del FANCA:c.4267_4368+36del Fanconi deletion not within known transcription unit 1 FANCA:c.4268_4368+37del138 FANCA:c.4268_4368+37del138 Fanconi deletion not within known transcription unit 1 FANCA:c.427-2A>G FANCA:c.427-2A>G Fanconi substitution intron 1 FANCA:c.427-?_522+?del FANCA:c.427-?_522+?del Fanconi deletion not within known transcription unit 0 FANCA:c.4275delT FANCA:c.4275delT Fanconi deletion exon 1 FANCA:c.4288_4289insGACC FANCA:c.4288_4289insGACC Fanconi insertion exon 1 FANCA:c.448G>T FANCA:c.448G>T Fanconi substitution exon 1 FANCA:c.44_69del26 FANCA:c.44_69del26 Fanconi deletion exon 1 FANCA:c.470C>T FANCA:c.470C>T Fanconi substitution exon 1 FANCA:c.505G>T FANCA:c.505G>T Fanconi substitution exon 1 FANCA:c.50delG FANCA:c.50delG Fanconi deletion exon 1 FANCA:c.523-?_1359+?del FANCA:c.523-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.523-?_1826+?del FANCA:c.523-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.523-?_1900+?del FANCA:c.523-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.523-?_596+?del FANCA:c.523-?_596+?del Fanconi deletion not within known transcription unit 0 FANCA:c.523-?_792+?del FANCA:c.523-?_792+?del Fanconi deletion not within known transcription unit 0 FANCA:c.542C>T FANCA:c.542C>T Fanconi substitution exon 1 FANCA:c.596G>C FANCA:c.596G>C Fanconi substitution exon 1 FANCA:c.597-1G>C FANCA:c.597-1G>C Fanconi substitution intron 1 FANCA:c.597-2A>G FANCA:c.597-2A>G Fanconi substitution intron 1 FANCA:c.597-?_1359+?del FANCA:c.597-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.597-?_1626+?del FANCA:c.597-?_1626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.597-?_1826+?del FANCA:c.597-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.597-?_2852+?del FANCA:c.597-?_2852+?del Fanconi deletion not within known transcription unit 0 FANCA:c.597-?_3066+?del FANCA:c.597-?_3066+?del Fanconi deletion not within known transcription unit 0 FANCA:c.597-?_709+?del FANCA:c.597-?_709+?del Fanconi deletion not within known transcription unit 0 FANCA:c.597-?_792+?del FANCA:c.597-?_792+?del Fanconi deletion not within known transcription unit 0 FANCA:c.629T>G FANCA:c.629T>G Fanconi substitution exon 1 FANCA:c.65G>A FANCA:c.65G>A Fanconi substitution exon 1 FANCA:c.66G>A FANCA:c.66G>A Fanconi substitution exon 1 FANCA:c.683C>G FANCA:c.683C>G Fanconi substitution exon 1 FANCA:c.709+1G>A FANCA:c.709+1G>A Fanconi substitution intron 1 FANCA:c.709+5G>A FANCA:c.709+5G>A Fanconi substitution intron 1 FANCA:c.709+5G>T FANCA:c.709+5G>T Fanconi substitution intron 1 FANCA:c.710-10G>A FANCA:c.710-10G>A Fanconi substitution intron 1 FANCA:c.710-143_710-144insCT FANCA:c.710-143_710-144insCT Fanconi insertion intron 1 FANCA:c.710-2A>G FANCA:c.710-2A>G Fanconi substitution intron 1 FANCA:c.710-5T>C FANCA:c.710-5T>C Fanconi substitution intron 1 FANCA:c.710-?_1006+?del FANCA:c.710-?_1006+?del Fanconi deletion not within known transcription unit 0 FANCA:c.710-?_2601+?del FANCA:c.710-?_2601+?del Fanconi deletion not within known transcription unit 0 FANCA:c.718C>T FANCA:c.718C>T Fanconi substitution exon 1 FANCA:c.732G>C FANCA:c.732G>C Fanconi substitution exon 1 FANCA:c.790C>T FANCA:c.790C>T Fanconi substitution exon 1 FANCA:c.792G>A FANCA:c.792G>A Fanconi substitution exon 1 FANCA:c.793-2A>C FANCA:c.793-2A>C Fanconi substitution intron 1 FANCA:c.793-3C>G FANCA:c.793-3C>G Fanconi substitution intron 1 FANCA:c.793-?_1359+?del FANCA:c.793-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.793-?_1715+?del FANCA:c.793-?_1715+?del Fanconi deletion not within known transcription unit 0 FANCA:c.793-?_1826+?del FANCA:c.793-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.793-?_1900+?del FANCA:c.793-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.793-?_3239+?del FANCA:c.793-?_3239+?del Fanconi deletion not within known transcription unit 0 FANCA:c.793-?_4368+?del FANCA:c.793-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.793-?_826+?del FANCA:c.793-?_826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.795-?_808+?del FANCA:c.795-?_808+?del Fanconi deletion not within known transcription unit 0 FANCA:c.80-?_4368+?del FANCA:c.80-?_4368+?del Fanconi deletion not within known transcription unit 0 FANCA:c.80-?_522+?del FANCA:c.80-?_522+?del Fanconi deletion not within known transcription unit 0 FANCA:c.811C>T FANCA:c.811C>T Fanconi substitution exon 1 FANCA:c.821C>T FANCA:c.821C>T Fanconi substitution exon 1 FANCA:c.826+3delA FANCA:c.826+3delA Fanconi deletion intron 1 FANCA:c.827-1G>T FANCA:c.827-1G>T Fanconi substitution intron 1 FANCA:c.827-2A>G FANCA:c.827-2A>G Fanconi substitution intron 1 FANCA:c.827-?_1083+?del FANCA:c.827-?_1083+?del Fanconi deletion not within known transcription unit 0 FANCA:c.827-?_1225+?del FANCA:c.827-?_1225+?del Fanconi deletion not within known transcription unit 0 FANCA:c.827-?_1626+?del FANCA:c.827-?_1626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.856C>T FANCA:c.856C>T Fanconi substitution exon 1 FANCA:c.862G>T FANCA:c.862G>T Fanconi substitution exon 1 FANCA:c.862T>G FANCA:c.862T>G Fanconi substitution exon 1 FANCA:c.890_893delGCTG FANCA:c.890_893delGCTG Fanconi deletion exon 1 FANCA:c.893+1G>T FANCA:c.893+1G>T Fanconi substitution intron 1 FANCA:c.893+920C>A FANCA:c.893+920C>A Fanconi substitution intron 1 FANCA:c.894-1G>A FANCA:c.894-1G>A Fanconi substitution intron 1 FANCA:c.894-2A>G FANCA:c.894-2A>G Fanconi substitution intron 1 FANCA:c.894-3C>G FANCA:c.894-3C>G Fanconi substitution intron 1 FANCA:c.894-?_1359+?del FANCA:c.894-?_1359+?del Fanconi deletion not within known transcription unit 0 FANCA:c.894-?_1626+?del FANCA:c.894-?_1626+?del Fanconi deletion not within known transcription unit 0 FANCA:c.894-?_1826+?del FANCA:c.894-?_1826+?del Fanconi deletion not within known transcription unit 0 FANCA:c.894-?_1900+?del FANCA:c.894-?_1900+?del Fanconi deletion not within known transcription unit 0 FANCA:c.894-?_3348+?del FANCA:c.894-?_3348+?del Fanconi deletion not within known transcription unit 0 FANCA:c.916_917delAC FANCA:c.916_917delAC Fanconi deletion exon 1 FANCA:c.933_936delTTCCinsCT FANCA:c.933_936delTTCCinsCT Fanconi complex exon 1 FANCA:c.971T>G FANCA:c.971T>G Fanconi substitution exon 1 FANCA:c.978_979del FANCA:c.978_979del Fanconi deletion exon 1 FANCA:c.987_990delTCAC FANCA:c.987_990delTCAC Fanconi deletion exon 1 FANCB:c.1103C>A FANCB:c.1103C>A Fanconi substitution exon 1 FANCB:c.128T>C FANCB:c.128T>C Fanconi substitution exon 1 FANCB:c.1496+5G>A FANCB:c.1496+5G>A Fanconi substitution intron 1 FANCB:c.1497-?_2580+?del FANCB:c.1497-?_2580+?del Fanconi deletion not within known transcription unit 0 FANCB:c.1668delT FANCB:c.1668delT Fanconi deletion exon 1 FANCB:c.1811_1814delGAGA FANCB:c.1811_1814delGAGA Fanconi deletion exon 1 FANCB:c.1856_1857insT FANCB:c.1856_1857insT Fanconi insertion exon 1 FANCB:c.1857_1858delAG FANCB:c.1857_1858delAG Fanconi deletion exon 1 FANCB:c.195dupT FANCB:c.195dupT Fanconi duplication exon 1 FANCB:c.2150T>G FANCB:c.2150T>G Fanconi substitution exon 1 FANCB:c.2165+1G>T FANCB:c.2165+1G>T Fanconi substitution intron 1 FANCB:c.2172_2175delAACA FANCB:c.2172_2175delAACA Fanconi deletion exon 1 FANCB:c.2249G>T FANCB:c.2249G>T Fanconi substitution exon 1 FANCB:c.2249_2252delGAAG FANCB:c.2249_2252delGAAG Fanconi deletion exon 1 FANCB:c.829dupT FANCB:c.829dupT Fanconi duplication exon 1 FANCB:c.949C>T FANCB:c.949C>T Fanconi substitution exon 1 FANCB:c.986T>C FANCB:c.986T>C Fanconi substitution exon 1 FANCC:c.-64C>T FANCC:c.-64C>T Fanconi substitution not within known transcription unit 1 FANCC:c.1-?_250+?del FANCC:c.1-?_250+?del Fanconi deletion not within known transcription unit 0 FANCC:c.1208G>A FANCC:c.1208G>A Fanconi substitution exon 1 FANCC:c.1249G>A FANCC:c.1249G>A Fanconi substitution exon 1 FANCC:c.1282_1284delTTC FANCC:c.1282_1284delTTC Fanconi deletion exon 1 FANCC:c.1333C>T FANCC:c.1333C>T Fanconi substitution exon 1 FANCC:c.1345G>A FANCC:c.1345G>A Fanconi substitution exon 1 FANCC:c.1393C>T FANCC:c.1393C>T Fanconi substitution exon 1 FANCC:c.1394A>G FANCC:c.1394A>G Fanconi substitution exon 1 FANCC:c.1417C>T FANCC:c.1417C>T Fanconi substitution exon 1 FANCC:c.1494T>G FANCC:c.1494T>G Fanconi substitution exon 1 FANCC:c.1550dupA FANCC:c.1550dupA Fanconi duplication exon 1 FANCC:c.1598_1599insAG FANCC:c.1598_1599insAG Fanconi insertion exon 1 FANCC:c.1642C>T FANCC:c.1642C>T Fanconi substitution exon 1 FANCC:c.165+1G>T FANCC:c.165+1G>T Fanconi substitution intron 1 FANCC:c.1661T>C FANCC:c.1661T>C Fanconi substitution exon 1 FANCC:c.1677+116A>C FANCC:c.1677+116A>C Fanconi substitution intron 1 FANCC:c.1677+42G>A FANCC:c.1677+42G>A Fanconi substitution intron 1 FANCC:c.178G>A FANCC:c.178G>A Fanconi substitution exon 1 FANCC:c.250+220G>A FANCC:c.250+220G>A Fanconi substitution intron 1 FANCC:c.251-?_345+?del FANCC:c.251-?_345+?del Fanconi deletion not within known transcription unit 0 FANCC:c.346-1840C>A FANCC:c.346-1840C>A Fanconi substitution intron 1 FANCC:c.346-1930T>C FANCC:c.346-1930T>C Fanconi substitution intron 1 FANCC:c.346-47T>C FANCC:c.346-47T>C Fanconi substitution intron 1 FANCC:c.355_360delTCTCATinsA FANCC:c.355_360delTCTCATinsA Fanconi complex exon 1 FANCC:c.356_360del FANCC:c.356_360del Fanconi deletion exon 1 FANCC:c.376_377del FANCC:c.376_377del Fanconi deletion exon 1 FANCC:c.37C>T FANCC:c.37C>T Fanconi substitution exon 1 FANCC:c.408A>G FANCC:c.408A>G Fanconi substitution exon 1 FANCC:c.416G>A FANCC:c.416G>A Fanconi substitution exon 1 FANCC:c.455dupA FANCC:c.455dupA Fanconi duplication exon 1 FANCC:c.456+4A>T FANCC:c.456+4A>T Fanconi substitution intron 1 FANCC:c.487_490delGAGA FANCC:c.487_490delGAGA Fanconi deletion exon 1 FANCC:c.489_490delGA FANCC:c.489_490delGA Fanconi deletion exon 1 FANCC:c.520C>T FANCC:c.520C>T Fanconi substitution exon 1 FANCC:c.521+1G>A FANCC:c.521+1G>A Fanconi substitution intron 1 FANCC:c.553C>T FANCC:c.553C>T Fanconi substitution exon 1 FANCC:c.568C>T FANCC:c.568C>T Fanconi substitution exon 1 FANCC:c.584A>T FANCC:c.584A>T Fanconi substitution exon 1 FANCC:c.632C>G FANCC:c.632C>G Fanconi substitution exon 1 FANCC:c.65G>A FANCC:c.65G>A Fanconi substitution exon 1 FANCC:c.662delA FANCC:c.662delA Fanconi deletion exon 1 FANCC:c.67delG FANCC:c.67delG Fanconi deletion exon 1 FANCC:c.686+30C>T FANCC:c.686+30C>T Fanconi substitution intron 1 FANCC:c.686+33C>T FANCC:c.686+33C>T Fanconi substitution intron 1 FANCC:c.705C>T FANCC:c.705C>T Fanconi substitution exon 1 FANCC:c.767A>G FANCC:c.767A>G Fanconi substitution exon 1 FANCC:c.77C>T FANCC:c.77C>T Fanconi substitution exon 1 FANCC:c.816C>T FANCC:c.816C>T Fanconi substitution exon 1 FANCC:c.843+1G>A FANCC:c.843+1G>A Fanconi substitution intron 1 FANCC:c.844-1G>C FANCC:c.844-1G>C Fanconi substitution intron 1 FANCC:c.934A>G FANCC:c.934A>G Fanconi substitution exon 1 FANCC:c.996+1G>A FANCC:c.996+1G>A Fanconi substitution intron 1 FANCC:c.996G>A FANCC:c.996G>A Fanconi substitution exon 1 FANCD1:c.1311_1314delAGAT FANCD1:c.1311_1314delAGAT Fanconi deletion exon 1 FANCD1:c.1813dupA FANCD1:c.1813dupA Fanconi duplication exon 1 FANCD1:c.2588dupA FANCD1:c.2588dupA Fanconi duplication exon 1 FANCD1:c.2899_2900delCT FANCD1:c.2899_2900delCT Fanconi deletion exon 1 FANCD1:c.3264dupT FANCD1:c.3264dupT Fanconi duplication exon 1 FANCD1:c.3865_3868delAAAT FANCD1:c.3865_3868delAAAT Fanconi deletion exon 1 FANCD1:c.3922G>T FANCD1:c.3922G>T Fanconi substitution exon 1 FANCD1:c.4472_4475delTGAA FANCD1:c.4472_4475delTGAA Fanconi deletion exon 1 FANCD1:c.4648G>T FANCD1:c.4648G>T Fanconi substitution exon 1 FANCD1:c.475G>A FANCD1:c.475G>A Fanconi substitution exon 1 FANCD1:c.4936_4939delGAAA FANCD1:c.4936_4939delGAAA Fanconi deletion exon 1 FANCD1:c.5073dupA FANCD1:c.5073dupA Fanconi duplication exon 1 FANCD1:c.5609_5610delTCinsAG FANCD1:c.5609_5610delTCinsAG Fanconi complex exon 1 FANCD1:c.5682C>G FANCD1:c.5682C>G Fanconi substitution exon 1 FANCD1:c.5946delT FANCD1:c.5946delT Fanconi deletion exon 1 FANCD1:c.6275_6276delTT FANCD1:c.6275_6276delTT Fanconi deletion exon 1 FANCD1:c.631+1G>A FANCD1:c.631+1G>A Fanconi substitution intron 1 FANCD1:c.631+2T>G FANCD1:c.631+2T>G Fanconi substitution intron 1 FANCD1:c.658_659delGT FANCD1:c.658_659delGT Fanconi deletion exon 1 FANCD1:c.6873delT FANCD1:c.6873delT Fanconi deletion exon 1 FANCD1:c.7007G>A FANCD1:c.7007G>A Fanconi substitution exon 1 FANCD1:c.7007G>C FANCD1:c.7007G>C Fanconi substitution exon 1 FANCD1:c.7463_7464insAT FANCD1:c.7463_7464insAT Fanconi insertion exon 1 FANCD1:c.7529T>C FANCD1:c.7529T>C Fanconi substitution exon 1 FANCD1:c.7878G>C FANCD1:c.7878G>C Fanconi substitution exon 1 FANCD1:c.8187G>T FANCD1:c.8187G>T Fanconi substitution exon 1 FANCD1:c.8219T>A FANCD1:c.8219T>A Fanconi substitution exon 1 FANCD1:c.8243G>A FANCD1:c.8243G>A Fanconi substitution exon 1 FANCD1:c.8487+3A>G FANCD1:c.8487+3A>G Fanconi substitution intron 1 FANCD1:c.8488-1G>A FANCD1:c.8488-1G>A Fanconi substitution intron 1 FANCD1:c.8504C>A FANCD1:c.8504C>A Fanconi substitution exon 1 FANCD1:c.9196C>T FANCD1:c.9196C>T Fanconi substitution exon 1 FANCD1:c.9207T>A FANCD1:c.9207T>A Fanconi substitution exon 1 FANCD1:c.9672dupA FANCD1:c.9672dupA Fanconi duplication exon 1 FANCD1:c.9674dupA FANCD1:c.9674dupA Fanconi duplication exon 1 FANCD2:c.1092G>A FANCD2:c.1092G>A Fanconi substitution exon 1 FANCD2:c.1321_1322delAG FANCD2:c.1321_1322delAG Fanconi deletion exon 1 FANCD2:c.1367T>G FANCD2:c.1367T>G Fanconi substitution exon 1 FANCD2:c.1370T>C FANCD2:c.1370T>C Fanconi substitution exon 1 FANCD2:c.1414-71_1545+256del459 FANCD2:c.1414-71_1545+256del459 Fanconi deletion intron 1 FANCD2:c.1414-?_1545+?del FANCD2:c.1414-?_1545+?del Fanconi deletion not within known transcription unit 0 FANCD2:c.1948-16T>G FANCD2:c.1948-16T>G Fanconi substitution intron 1 FANCD2:c.1948-6C>A FANCD2:c.1948-6C>A Fanconi substitution intron 1 FANCD2:c.206-2A>T FANCD2:c.206-2A>T Fanconi substitution intron 1 FANCD2:c.2404C>T FANCD2:c.2404C>T Fanconi substitution exon 1 FANCD2:c.2444G>A FANCD2:c.2444G>A Fanconi substitution exon 1 FANCD2:c.2661delA FANCD2:c.2661delA Fanconi deletion exon 1 FANCD2:c.2715+1G>A FANCD2:c.2715+1G>A Fanconi substitution intron 1 FANCD2:c.274-57_274-56ins298 FANCD2:c.274-57_274-56ins298 Fanconi insertion intron 1 FANCD2:c.2775_2776delCCinsTT FANCD2:c.2775_2776delCCinsTT Fanconi complex exon 1 FANCD2:c.2835dupC FANCD2:c.2835dupC Fanconi duplication exon 1 FANCD2:c.2T>C FANCD2:c.2T>C Fanconi substitution exon 1 FANCD2:c.3453_3456delCAAA FANCD2:c.3453_3456delCAAA Fanconi deletion exon 1 FANCD2:c.3599delT FANCD2:c.3599delT Fanconi deletion exon 1 FANCD2:c.3706C>A FANCD2:c.3706C>A Fanconi substitution exon 1 FANCD2:c.3707G>A FANCD2:c.3707G>A Fanconi substitution exon 1 FANCD2:c.376A>G FANCD2:c.376A>G Fanconi substitution exon 1 FANCD2:c.3803G>A FANCD2:c.3803G>A Fanconi substitution exon 1 FANCD2:c.692T>G FANCD2:c.692T>G Fanconi substitution exon 1 FANCD2:c.696-121C>G FANCD2:c.696-121C>G Fanconi substitution intron 1 FANCD2:c.696-2A>T FANCD2:c.696-2A>T Fanconi substitution intron 1 FANCD2:c.757C>T FANCD2:c.757C>T Fanconi substitution exon 1 FANCD2:c.782A>T FANCD2:c.782A>T Fanconi substitution exon 1 FANCD2:c.810_812delGTC FANCD2:c.810_812delGTC Fanconi deletion exon 1 FANCD2:c.904C>T FANCD2:c.904C>T Fanconi substitution exon 1 FANCD2:c.958C>T FANCD2:c.958C>T Fanconi substitution exon 1 FANCD2:c.990-1G>A FANCD2:c.990-1G>A Fanconi substitution intron 1 FANCE:c.1018G>C FANCE:c.1018G>C Fanconi substitution exon 1 FANCE:c.1066A>G FANCE:c.1066A>G Fanconi substitution exon 1 FANCE:c.1071C>T FANCE:c.1071C>T Fanconi substitution exon 1 FANCE:c.1094G>A FANCE:c.1094G>A Fanconi substitution exon 1 FANCE:c.1111C>T FANCE:c.1111C>T Fanconi substitution exon 1 FANCE:c.1114-8G>A FANCE:c.1114-8G>A Fanconi substitution intron 1 FANCE:c.1316+19G>A FANCE:c.1316+19G>A Fanconi substitution intron 1 FANCE:c.1463C>G FANCE:c.1463C>G Fanconi substitution exon 1 FANCE:c.1504G>A FANCE:c.1504G>A Fanconi substitution exon 1 FANCE:c.1510-1G>A FANCE:c.1510-1G>A Fanconi substitution intron 1 FANCE:c.248+111C>T FANCE:c.248+111C>T Fanconi substitution intron 1 FANCE:c.248+1G>A FANCE:c.248+1G>A Fanconi substitution intron 1 FANCE:c.248+58A>C FANCE:c.248+58A>C Fanconi substitution intron 1 FANCE:c.355C>T FANCE:c.355C>T Fanconi substitution exon 1 FANCE:c.387A>C FANCE:c.387A>C Fanconi substitution exon 1 FANCE:c.421C>T FANCE:c.421C>T Fanconi substitution exon 1 FANCE:c.436delG FANCE:c.436delG Fanconi deletion exon 1 FANCE:c.551C>A FANCE:c.551C>A Fanconi substitution exon 1 FANCE:c.611C>T FANCE:c.611C>T Fanconi substitution exon 1 FANCE:c.855+58A>G FANCE:c.855+58A>G Fanconi substitution intron 1 FANCE:c.856-70G>A FANCE:c.856-70G>A Fanconi substitution intron 1 FANCE:c.900+39A>G FANCE:c.900+39A>G Fanconi substitution intron 1 FANCE:c.91C>T FANCE:c.91C>T Fanconi substitution exon 1 FANCE:c.970-84T>C FANCE:c.970-84T>C Fanconi substitution intron 1 FANCE:c.9A>C FANCE:c.9A>C Fanconi substitution exon 1 FANCF:c.16C>T FANCF:c.16C>T Fanconi substitution exon 1 FANCF:c.193C>T FANCF:c.193C>T Fanconi substitution exon 1 FANCF:c.219delG FANCF:c.219delG Fanconi deletion exon 1 FANCF:c.230_252del23 FANCF:c.230_252del23 Fanconi deletion exon 1 FANCF:c.24_25insA FANCF:c.24_25insA Fanconi insertion exon 1 FANCF:c.327C>G FANCF:c.327C>G Fanconi substitution exon 1 FANCF:c.349_395del47 FANCF:c.349_395del47 Fanconi deletion exon 1 FANCF:c.438_451del14 FANCF:c.438_451del14 Fanconi deletion exon 1 FANCF:c.484_485del FANCF:c.484_485del Fanconi deletion exon 1 FANCF:c.496C>T FANCF:c.496C>T Fanconi substitution exon 1 FANCF:c.604delC FANCF:c.604delC Fanconi deletion exon 1 FANCF:c.825G>A FANCF:c.825G>A Fanconi substitution exon 1 FANCF:c.84delC FANCF:c.84delC Fanconi deletion exon 1 FANCF:c.887_894del FANCF:c.887_894del Fanconi deletion exon 1 FANCG:c.1008dupA FANCG:c.1008dupA Fanconi duplication exon 1 FANCG:c.1066C>T FANCG:c.1066C>T Fanconi substitution exon 1 FANCG:c.1077-2A>G FANCG:c.1077-2A>G Fanconi substitution intron 1 FANCG:c.109_110del FANCG:c.109_110del Fanconi deletion exon 1 FANCG:c.1143+5G>A FANCG:c.1143+5G>A Fanconi substitution intron 1 FANCG:c.1144-11_1144-10delinsGA FANCG:c.1144-11_1144-10delinsGA Fanconi complex intron 1 FANCG:c.1144-1G>C FANCG:c.1144-1G>C Fanconi substitution intron 1 FANCG:c.1158delC FANCG:c.1158delC Fanconi deletion exon 1 FANCG:c.1182_1192delinsC FANCG:c.1182_1192delinsC Fanconi complex exon 1 FANCG:c.1183_1192del FANCG:c.1183_1192del Fanconi deletion exon 1 FANCG:c.118C>T FANCG:c.118C>T Fanconi substitution exon 1 FANCG:c.1309_1310dupGA FANCG:c.1309_1310dupGA Fanconi duplication exon 1 FANCG:c.1359delT FANCG:c.1359delT Fanconi deletion exon 1 FANCG:c.1480+1G>C FANCG:c.1480+1G>C Fanconi substitution intron 1 FANCG:c.1528C>T FANCG:c.1528C>T Fanconi substitution exon 1 FANCG:c.1538G>A FANCG:c.1538G>A Fanconi substitution exon 1 FANCG:c.1561G>T FANCG:c.1561G>T Fanconi substitution exon 1 FANCG:c.1562G>A FANCG:c.1562G>A Fanconi substitution exon 1 FANCG:c.156dupG FANCG:c.156dupG Fanconi duplication exon 1 FANCG:c.1593delC FANCG:c.1593delC Fanconi deletion exon 1 FANCG:c.1636G>C FANCG:c.1636G>C Fanconi substitution exon 1 FANCG:c.1637-38_1637-28del11 FANCG:c.1637-38_1637-28del11 Fanconi deletion intron 1 FANCG:c.1642C>T FANCG:c.1642C>T Fanconi substitution exon 1 FANCG:c.1649delC FANCG:c.1649delC Fanconi deletion exon 1 FANCG:c.1715G>A FANCG:c.1715G>A Fanconi substitution exon 1 FANCG:c.1749delA FANCG:c.1749delA Fanconi deletion exon 1 FANCG:c.175+1G>A FANCG:c.175+1G>A Fanconi substitution intron 1 FANCG:c.1761-1G>C FANCG:c.1761-1G>C Fanconi substitution intron 1 FANCG:c.1763C>T FANCG:c.1763C>T Fanconi substitution exon 1 FANCG:c.1771dupC FANCG:c.1771dupC Fanconi duplication exon 1 FANCG:c.1794_1803del10 FANCG:c.1794_1803del10 Fanconi deletion exon 1 FANCG:c.212T>C FANCG:c.212T>C Fanconi substitution exon 1 FANCG:c.219_220insT FANCG:c.219_220insT Fanconi insertion exon 1 FANCG:c.244dupG FANCG:c.244dupG Fanconi duplication exon 1 FANCG:c.271_272del FANCG:c.271_272del Fanconi deletion exon 1 FANCG:c.307+1G>C FANCG:c.307+1G>C Fanconi substitution intron 1 FANCG:c.313G>T FANCG:c.313G>T Fanconi substitution exon 1 FANCG:c.346_347del FANCG:c.346_347del Fanconi deletion exon 1 FANCG:c.565G>T FANCG:c.565G>T Fanconi substitution exon 1 FANCG:c.572T>G FANCG:c.572T>G Fanconi substitution exon 1 FANCG:c.582_584delinsC FANCG:c.582_584delinsC Fanconi complex exon 1 FANCG:c.620delT FANCG:c.620delT Fanconi deletion exon 1 FANCG:c.637_643delTACCGCC FANCG:c.637_643delTACCGCC Fanconi deletion exon 1 FANCG:c.646+1G>T FANCG:c.646+1G>T Fanconi substitution intron 1 FANCG:c.652C>T FANCG:c.652C>T Fanconi substitution exon 1 FANCG:c.65G>C FANCG:c.65G>C Fanconi substitution exon 1 FANCG:c.778-1G>C FANCG:c.778-1G>C Fanconi substitution intron 1 FANCG:c.890C>T FANCG:c.890C>T Fanconi substitution exon 1 FANCG:c.908T>C FANCG:c.908T>C Fanconi substitution exon 1 FANCI:c.1264G>C FANCI:c.1264G>C Fanconi substitution exon 1 FANCI:c.1461T>A FANCI:c.1461T>A Fanconi substitution exon 1 FANCI:c.157+78G>A FANCI:c.157+78G>A Fanconi substitution intron 1 FANCI:c.1840C>T FANCI:c.1840C>T Fanconi substitution exon 1 FANCI:c.2248T>C FANCI:c.2248T>C Fanconi substitution exon 1 FANCI:c.2509G>T FANCI:c.2509G>T Fanconi substitution exon 1 FANCI:c.2572C>T FANCI:c.2572C>T Fanconi substitution exon 1 FANCI:c.2T>C FANCI:c.2T>C Fanconi substitution exon 1 FANCI:c.3006+3A>G FANCI:c.3006+3A>G Fanconi substitution intron 1 FANCI:c.3058+1G>A FANCI:c.3058+1G>A Fanconi substitution intron 1 FANCI:c.3058+4A>G FANCI:c.3058+4A>G Fanconi substitution intron 1 FANCI:c.3350-88A>G FANCI:c.3350-88A>G Fanconi substitution intron 1 FANCI:c.3437_3455del FANCI:c.3437_3455del Fanconi deletion exon 1 FANCI:c.3437_3455del19 FANCI:c.3437_3455del19 Fanconi deletion exon 1 FANCI:c.3493delG FANCI:c.3493delG Fanconi deletion exon 1 FANCI:c.3521C>T FANCI:c.3521C>T Fanconi substitution exon 1 FANCI:c.3604G>C FANCI:c.3604G>C Fanconi substitution exon 1 FANCI:c.3622_3623delCT FANCI:c.3622_3623delCT Fanconi deletion exon 1 FANCI:c.3853C>T FANCI:c.3853C>T Fanconi substitution exon 1 FANCI:c.3854G>A FANCI:c.3854G>A Fanconi substitution exon 1 FANCI:c.3895C>T FANCI:c.3895C>T Fanconi substitution exon 1 FANCI:c.3901dupG FANCI:c.3901dupG Fanconi duplication exon 1 FANCI:c.756-25_756-19delCATAACT FANCI:c.756-25_756-19delCATAACT Fanconi deletion intron 1 FANCI:c.866T>C FANCI:c.866T>C Fanconi substitution exon 1 FANCL:c.1007_1009delTAT FANCL:c.1007_1009delTAT Fanconi deletion exon 1 FANCL:c.1095_1098dupAATT FANCL:c.1095_1098dupAATT Fanconi duplication exon 1 FANCL:c.822-15_822-9delins177 FANCL:c.822-15_822-9delins177 Fanconi complex intron 1 FANCM:c.2171C>A FANCM:c.2171C>A Fanconi substitution exon 1 FANCM:c.4222+1978_4300del FANCM:c.4222+1978_4300del Fanconi deletion intron 1 PALB2:c.1653T>A PALB2:c.1653T>A Fanconi substitution exon 1 PALB2:c.2257C>T PALB2:c.2257C>T Fanconi substitution exon 1 PALB2:c.2393_2394insCT PALB2:c.2393_2394insCT Fanconi insertion exon 1 PALB2:c.2521delA PALB2:c.2521delA Fanconi deletion exon 1 PALB2:c.2962C>T PALB2:c.2962C>T Fanconi substitution exon 1 PALB2:c.3113+5G>C PALB2:c.3113+5G>C Fanconi substitution intron 1 PALB2:c.3116delA PALB2:c.3116delA Fanconi deletion exon 1 PALB2:c.3294_3298delGACGA PALB2:c.3294_3298delGACGA Fanconi deletion exon 1 PALB2:c.3323delA PALB2:c.3323delA Fanconi deletion exon 1 PALB2:c.3350+4A>G PALB2:c.3350+4A>G Fanconi substitution intron 1 PALB2:c.3549C>A PALB2:c.3549C>A Fanconi substitution exon 1 PALB2:c.3549C>G PALB2:c.3549C>G Fanconi substitution exon 1 PALB2:c.395delT PALB2:c.395delT Fanconi deletion exon 1 PALB2:c.49-?_2586+?del PALB2:c.49-?_2586+?del Fanconi deletion not within known transcription unit 0 PALB2:c.757_758delCT PALB2:c.757_758delCT Fanconi deletion exon 1 RAD51C:c.773G>A RAD51C:c.773G>A Fanconi substitution exon 1 SLX4:c.1093delC SLX4:c.1093delC Fanconi deletion exon 1 SLX4:c.1163+2T>A SLX4:c.1163+2T>A Fanconi substitution intron 1 SLX4:c.1163+3dupT SLX4:c.1163+3dupT Fanconi duplication intron 1 SLX4:c.2013+225_3147delinsCC SLX4:c.2013+225_3147delinsCC Fanconi complex intron 1 SLX4:c.286delA SLX4:c.286delA Fanconi deletion exon 1 SLX4:c.514delC SLX4:c.514delC Fanconi deletion exon 1 RettBASE_MECP2_e1:c.-46_-45delGC BX538060:c.-46_-45delGC RettBASE deletion 5' UTR 1 RettBASE_MECP2_e1:c.-27_-26delAG BX538060:c.-27_-26delAG RettBASE deletion 5' UTR 1 RettBASE_MECP2_e1:c.-27_-26delinsTT BX538060:c.-27_-26delinsTT RettBASE complex 5' UTR 1 RettBASE_c.-15C>T AJ132917.1:c.-15C>T RettBASE substitution 5' UTR 1 RettBASE_c.1038_1119del82 AJ132917.1:c.1038_1119del82 RettBASE deletion exon 1 RettBASE_c.*487G>C AJ132917.1:c.*487G>C RettBASE substitution 3' UTR 1 RettBASE_c.965C>T AJ132917.1:c.965C>T RettBASE substitution exon 1 RettBASE_c.999G>T AJ132917.1:c.999G>T RettBASE substitution exon 1 RettBASE_c.880C>T AJ132917.1:c.880C>T RettBASE substitution exon 1 RettBASE_c.1326C>T AJ132917.1:c.1326C>T RettBASE substitution exon 1 RettBASE_c.502C>T AJ132917.1:c.502C>T RettBASE substitution exon 1 RettBASE_c.695G>C AJ132917.1:c.695G>C RettBASE substitution exon 1 RettBASE_c.752C>T AJ132917.1:c.752C>T RettBASE substitution exon 1 RettBASE_c.1038_1191del154 AJ132917.1:c.1038_1191del154 RettBASE deletion exon 1 RettBASE_p.L386fs P51608:p.L386fs RettBASE substitution exon 1 RettBASE_c.590C>T AJ132917.1:c.590C>T RettBASE substitution exon 1 RettBASE_c.674C>G AJ132917.1:c.674C>G RettBASE substitution exon 1 RettBASE_c.*93G>A AJ132917.1:c.*93G>A RettBASE substitution 3' UTR 1 RettBASE_c.1157_1197del41 AJ132917.1:c.1157_1197del41 RettBASE deletion exon 1 RettBASE_c.1232_1240del9 AJ132917.1:c.1232_1240del9 RettBASE deletion exon 1 RettBASE_c.1430G>C AJ132917.1:c.1430G>C RettBASE substitution exon 1 RettBASE_c.1104C>T AJ132917.1:c.1104C>T RettBASE substitution exon 1 RettBASE_c.1107_1327del221 AJ132917.1:c.1107_1327del221 RettBASE deletion exon 1 RettBASE_c.897C>T AJ132917.1:c.897C>T RettBASE substitution exon 1 RettBASE_c.1155_1200del46 AJ132917.1:c.1155_1200del46 RettBASE deletion exon 1 RettBASE_c.473C>T AJ132917.1:c.473C>T RettBASE substitution exon 1 RettBASE_c.1189G>A AJ132917.1:c.1189G>A RettBASE substitution exon 1 RettBASE_c.397C>T AJ132917.1:c.397C>T RettBASE substitution exon 1 RettBASE_c.438C>T AJ132917.1:c.438C>T RettBASE substitution exon 1 RettBASE_c.819G>T AJ132917.1:c.819G>T RettBASE substitution exon 1 RettBASE_c.1161C>T AJ132917.1:c.1161C>T RettBASE substitution exon 1 RettBASE_c.*8C>T AJ132917.1:c.*8C>T RettBASE substitution 3' UTR 1 RettBASE_c.806delG AJ132917.1:c.806delG RettBASE deletion exon 1 RettBASE_c.808C>T AJ132917.1:c.808C>T RettBASE substitution exon 1 RettBASE_c.1233C>T AJ132917.1:c.1233C>T RettBASE substitution exon 1 RettBASE_c.916C>T AJ132917.1:c.916C>T RettBASE substitution exon 1 RettBASE_c.984C>T AJ132917.1:c.984C>T RettBASE substitution exon 1 RettBASE_c.608C>T AJ132917.1:c.608C>T RettBASE substitution exon 1 RettBASE_c.763C>T AJ132917.1:c.763C>T RettBASE substitution exon 1 RettBASE_c.1053_1054ins10 AJ132917.1:c.1053_1054ins10 RettBASE insertion exon 1 RettBASE_c.1145_1199del55 AJ132917.1:c.1145_1199del55 RettBASE deletion exon 1 RettBASE_c.1103_1172del AJ132917.1:c.1103_1172del RettBASE deletion exon 1 RettBASE_c.1185_1191del AJ132917.1:c.1185_1191del RettBASE deletion exon 1 RettBASE_c.965_970del6 AJ132917.1:c.965_970del6 RettBASE deletion exon 1 RettBASE_c.1029dupG AJ132917.1:c.1029dupG RettBASE duplication exon 1 RettBASE_c.1138_1208del71 AJ132917.1:c.1138_1208del71 RettBASE deletion exon 1 RettBASE_c.1118_1300del183ins61 AJ132917.1:c.1118_1300del183ins61 RettBASE complex exon 1 RettBASE_c.1161_1166del6 AJ132917.1:c.1161_1166del6 RettBASE deletion exon 1 RettBASE_c.1180_1205del26 AJ132917.1:c.1180_1205del26 RettBASE deletion exon 1 RettBASE_c.1163_1173del11 AJ132917.1:c.1163_1173del11 RettBASE deletion exon 1 RettBASE_c.1176_1193del18 AJ132917.1:c.1176_1193del18 RettBASE deletion exon 1 RettBASE_c.1449G>C AJ132917.1:c.1449G>C RettBASE substitution exon 1 RettBASE_c.802C>T AJ132917.1:c.802C>T RettBASE substitution exon 1 RettBASE_c.750C>T AJ132917.1:c.750C>T RettBASE substitution exon 1 RettBASE_c.1459T>C AJ132917.1:c.1459T>C RettBASE substitution exon 1 RettBASE_c.*9G>A AJ132917.1:c.*9G>A RettBASE substitution 3' UTR 1 RettBASE_c.881_1169del289 AJ132917.1:c.881_1169del289 RettBASE deletion exon 1 RettBASE_c.1189_1196del8 AJ132917.1:c.1189_1196del8 RettBASE deletion exon 1 RettBASE_c.1161_1163del AJ132917.1:c.1161_1163del RettBASE deletion exon 1 RettBASE_c.1126C>T AJ132917.1:c.1126C>T RettBASE substitution exon 1 RettBASE_c.1125_1137del13 AJ132917.1:c.1125_1137del13 RettBASE deletion exon 1 RettBASE_c.1138_1263inv AJ132917.1:c.1138_1263inv RettBASE complex exon 1 RettBASE_c.1071C>T AJ132917.1:c.1071C>T RettBASE substitution exon 1 RettBASE_c.777C>T AJ132917.1:c.777C>T RettBASE substitution exon 1 RettBASE_c.609G>A AJ132917.1:c.609G>A RettBASE substitution exon 1 RettBASE_c.905C>T AJ132917.1:c.905C>T RettBASE substitution exon 1 RettBASE_c.*98dupA AJ132917.1:c.*98dupA RettBASE duplication 3' UTR 1 RettBASE_c.*122delT AJ132917.1:c.*122delT RettBASE deletion 3' UTR 1 RettBASE_c.378-61C>G AJ132917.1:c.378-61C>G RettBASE substitution 3' UTR 1 RettBASE_c.992_994delAGA AJ132917.1:c.992_994delAGA RettBASE deletion exon 1 RettBASE_c.1029delG AJ132917.1:c.1029delG RettBASE deletion exon 1 RettBASE_c.1061G>T AJ132917.1:c.1061G>T RettBASE substitution exon 1 RettBASE_c.1167_1200del34 AJ132917.1:c.1167_1200del34 RettBASE deletion exon 1 RettBASE_c.377+22C>G AJ132917.1:c.377+22C>G RettBASE substitution intron 1 RettBASE_c.378-74C>T AJ132917.1:c.378-74C>T RettBASE substitution intron 1 RettBASE_c.378-74C>G AJ132917.1:c.378-74C>G RettBASE substitution intron 1 RettBASE_c.602C>T AJ132917.1:c.602C>T RettBASE substitution exon 1 RettBASE_c.*55C>G AJ132917.1:c.*55C>G RettBASE substitution not within known transcription unit 1 RettBASE_c.316C>T AJ132917.1:c.316C>T RettBASE substitution exon 1 RettBASE_c.917G>T AJ132917.1:c.917G>T RettBASE substitution exon 1 RettBASE_c.1061G>A AJ132917.1:c.1061G>A RettBASE substitution exon 1 RettBASE_c.1164_1207del44 AJ132917.1:c.1164_1207del44 RettBASE deletion exon 1 RettBASE_p.S373X P51608:p.S373X RettBASE substitution exon 1 RettBASE_c.*177G>C AJ132917.1:c.*177G>C RettBASE substitution 3' UTR 1 RettBASE_c.*5348T>C AJ132917.1:c.*5348T>C RettBASE substitution 3' UTR 1 RettBASE_c.1202G>A AJ132917.1:c.1202G>A RettBASE substitution exon 1 RettBASE_c.750C>A AJ132917.1:c.750C>A RettBASE substitution exon 1 RettBASE_c.710G>T AJ132917.1:c.710G>T RettBASE substitution exon 1 RettBASE_c.*36G>C AJ132917.1:c.*36G>C RettBASE substitution 3' UTR 1 RettBASE_c.145+17A>G NM_003159:c.145+17A>G RettBASE substitution intron 1 RettBASE_c.3003C>G NM_003159:c.3003C>G RettBASE substitution intron 1 RettBASE_c.3084G>A NM_003159:c.3084G>A RettBASE substitution intron 1 RettBASE_c.*139G>A AJ132917.1:c.*139G>A RettBASE substitution 3' UTR 1 RettBASE_c.1132_1159del28 AJ132917.1:c.1132_1159del28 RettBASE deletion exon 1 RettBASE_c.1167_1176del10 AJ132917.1:c.1167_1176del10 RettBASE deletion exon 1 RettBASE_c.1147_1176del30 AJ132917.1:c.1147_1176del30 RettBASE deletion exon 1 RettBASE_c.1063_1188del126 AJ132917.1:c.1063_1188del126 RettBASE deletion exon 1 RettBASE_c.1189_1231inv AJ132917.1:c.1189_1231inv RettBASE complex exon 1 RettBASE_c.1232_1236del5 AJ132917.1:c.1232_1236del5 RettBASE deletion exon 1 RettBASE_c.*92C>T AJ132917.1:c.*92C>T RettBASE substitution 3' UTR 1 RettBASE_c.*328G>A AJ132917.1:c.*328G>A RettBASE substitution 3' UTR 1 RettBASE_c.*359G>C AJ132917.1:c.*359G>C RettBASE substitution 3' UTR 1 RettBASE_c.*363G>C AJ132917.1:c.*363G>C RettBASE substitution 3' UTR 1 RettBASE_c.*204G>A AJ132917.1:c.*204G>A RettBASE substitution 3' UTR 1 RettBASE_c.*371G>C AJ132917.1:c.*371G>C RettBASE substitution 3' UTR 1 RettBASE_c.*544G>A AJ132917.1:c.*544G>A RettBASE substitution 3' UTR 1 RettBASE_c.*554G>A AJ132917.1:c.*554G>A RettBASE substitution 3' UTR 1 RettBASE_c.*767G>T AJ132917.1:c.*767G>T RettBASE substitution 3' UTR 1 RettBASE_c.*861T>G AJ132917.1:c.*861T>G RettBASE substitution 3' UTR 1 RettBASE_c.*878C>G AJ132917.1:c.*878C>G RettBASE substitution 3' UTR 1 RettBASE_c.*1368C>A AJ132917.1:c.*1368C>A RettBASE substitution 3' UTR 1 RettBASE_c.*1737G>A AJ132917.1:c.*1737G>A RettBASE substitution 3' UTR 1 RettBASE_c.*2556T>A AJ132917.1:c.*2556T>A RettBASE substitution 3' UTR 1 RettBASE_c.*2657G>A AJ132917.1:c.*2657G>A RettBASE substitution 3' UTR 1 RettBASE_c.*2706G>A AJ132917.1:c.*2706G>A RettBASE substitution 3' UTR 1 RettBASE_c.*2956G>A AJ132917.1:c.*2956G>A RettBASE substitution 3' UTR 1 RettBASE_c.*3477G>A AJ132917.1:c.*3477G>A RettBASE substitution 3' UTR 1 RettBASE_c.*3658C>T AJ132917.1:c.*3658C>T RettBASE substitution 3' UTR 1 RettBASE_c.*3878G>C AJ132917.1:c.*3878G>C RettBASE substitution 3' UTR 1 RettBASE_c.*4576A>C AJ132917.1:c.*4576A>C RettBASE substitution 3' UTR 1 RettBASE_c.*5486_*5487dupAT AJ132917.1:c.*5486_*5487dupAT RettBASE duplication 3' UTR 1 RettBASE_c.*7748C>T AJ132917.1:c.*7748C>T RettBASE substitution 3' UTR 1 RettBASE_c.*7856A>C AJ132917.1:c.*7856A>C RettBASE substitution 3' UTR 1 RettBASE_c.*8503delC AJ132917.1:c.*8503delC RettBASE deletion 3' UTR 1 RettBASE_c.*393G>A AJ132917.1:c.*393G>A RettBASE substitution 3' UTR 1 RettBASE_c.*489G>C AJ132917.1:c.*489G>C RettBASE substitution 3' UTR 1 RettBASE_c.*529G>T AJ132917.1:c.*529G>T RettBASE substitution 3' UTR 1 RettBASE_c.*806G>A AJ132917.1:c.*806G>A RettBASE substitution 3' UTR 1 RettBASE_c.*831G>C AJ132917.1:c.*831G>C RettBASE substitution 3' UTR 1 RettBASE_c.*875dupA AJ132917.1:c.*875dupA RettBASE duplication 3' UTR 1 RettBASE_c.*1237T>C AJ132917.1:c.*1237T>C RettBASE substitution 3' UTR 1 RettBASE_c.*3662A>G AJ132917.1:c.*3662A>G RettBASE substitution 3' UTR 1 RettBASE_c.*4086_*4087delGT AJ132917.1:c.*4086_*4087delGT RettBASE deletion 3' UTR 1 RettBASE_c.*5839C>T AJ132917.1:c.*5839C>T RettBASE substitution 3' UTR 1 RettBASE_c.2500C>T NM_003159:c.2500C>T RettBASE substitution exon 1 RettBASE_c.26+22C>G AJ132917.1:c.26+22C>G RettBASE substitution intron 1 RettBASE_c.468C>G AJ132917.1:c.468C>G RettBASE substitution intron 1 RettBASE_c.426C>T AJ132917.1:c.426C>T RettBASE substitution exon 1 RettBASE_c.808C>G AJ132917.1:c.808C>G RettBASE substitution exon 1 RettBASE_c.27-5690_1208del7628ins42 AJ132917.1:c.27-5690_1208del7628ins42 RettBASE complex not within known transcription unit 1 RettBASE_c.439G>A AJ132917.1:c.439G>A RettBASE substitution not within known transcription unit 1 RettBASE_c.834C>T AJ132917.1:c.834C>T RettBASE substitution exon 1 RettBASE_c.1158_1167del10 AJ132917.1:c.1158_1167del10 RettBASE deletion exon 1 RettBASE_c.1173_1188del16 AJ132917.1:c.1173_1188del16 RettBASE deletion exon 1 RettBASE_c.528C>G AJ132917.1:c.528C>G RettBASE substitution exon 1 RettBASE_c.1451G>C AJ132917.1:c.1451G>C RettBASE substitution exon 1 RettBASE_c.1105_1116del12 AJ132917.1:c.1105_1116del12 RettBASE deletion exon 1 RettBASE_c.1152_1195del44 AJ132917.1:c.1152_1195del44 RettBASE deletion exon 1 RettBASE_c.1159_1174del16 AJ132917.1:c.1159_1174del16 RettBASE deletion exon 1 RettBASE_c.1205_1432del228 AJ132917.1:c.1205_1432del228 RettBASE deletion exon 1 RettBASE_c.1197_1237inv AJ132917.1:c.1197_1237inv RettBASE complex exon 1 RettBASE_c.1238_1266del AJ132917.1:c.1238_1266del RettBASE deletion exon 1 RettBASE_c.1317_*623delins22 AJ132917.1:c.1317_*623delins22 RettBASE complex not within known transcription unit 1 RettBASE_c.*796_*822del AJ132917.1:c.*796_*822del RettBASE deletion not within known transcription unit 1 RettBASE_c.1004_1037del AJ132917.1:c.1004_1037del RettBASE deletion exon 1 RettBASE_c.1051_1054del AJ132917.1:c.1051_1054del RettBASE deletion exon 1 RettBASE_c.1059_1072del AJ132917.1:c.1059_1072del RettBASE deletion exon 1 RettBASE_c.1161_*2598del AJ132917.1:c.1161_*2598del RettBASE deletion exon 1 RettBASE_c.947_1029delins1196_1254inv AJ132917.1:c.947_1029delins1196_1254inv RettBASE complex exon 1 RettBASE_c.1136_*11080del AJ132917.1:c.1136_*11080del RettBASE deletion exon 1 RettBASE_c.27-5862_1132del AJ132917.1:c.27-5862_1132del RettBASE deletion not within known transcription unit 1 RettBASE_c.1157_1197del AJ132917.1:c.1157_1197del RettBASE deletion not within known transcription unit 1 RettBASE_c.27-5944_1132del AJ132917.1:c.27-5944_1132del RettBASE deletion not within known transcription unit 1 RettBASE_c.1129_1133delAAGGCinsGAGT AJ132917.1:c.1129_1133delAAGGCinsGAGT RettBASE complex exon 1 RettBASE_c.1043_1056del14 AJ132917.1:c.1043_1056del14 RettBASE deletion exon 1 RettBASE_c.1061_1074del14 AJ132917.1:c.1061_1074del14 RettBASE deletion exon 1 RettBASE_c.1104_1106del3 AJ132917.1:c.1104_1106del3 RettBASE deletion exon 1 RettBASE_c.1138_1163del26 AJ132917.1:c.1138_1163del26 RettBASE deletion exon 1 RettBASE_c.1178_1185del8 AJ132917.1:c.1178_1185del8 RettBASE deletion exon 1 RettBASE_c.1051_1065del15 AJ132917.1:c.1051_1065del15 RettBASE deletion exon 1 RettBASE_c.1088_1115del28 AJ132917.1:c.1088_1115del28 RettBASE deletion exon 1 RettBASE_c.1138_1207del70 AJ132917.1:c.1138_1207del70 RettBASE deletion exon 1 RettBASE_c.641_653del13 AJ132917.1:c.641_653del13 RettBASE deletion exon 1 RettBASE_c.711_1309del599 AJ132917.1:c.711_1309del599 RettBASE deletion exon 1 RettBASE_c.380C>T AJ132917.1:c.380C>T RettBASE substitution exon 1 RettBASE_c.343C>T AJ132917.1:c.343C>T RettBASE substitution exon 1 RettBASE_c.1136_1142del7 AJ132917.1:c.1136_1142del7 RettBASE deletion exon 1 RettBASE_c.27-?_377+?del AJ132917.1:c.27-?_377+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.1085_1216del132 AJ132917.1:c.1085_1216del132 RettBASE deletion not within known transcription unit 1 RettBASE_c.27-?_1000+?dup AJ132917.1:c.27-?_1000+?dup RettBASE duplication not within known transcription unit 0 RettBASE_c.1100_1188del89 AJ132917.1:c.1100_1188del89 RettBASE deletion not within known transcription unit 1 RettBASE_c.*1134G>A AJ132917.1:c.*1134G>A RettBASE substitution 3' UTR 1 RettBASE_c.*8500C>G AJ132917.1:c.*8500C>G RettBASE substitution 3' UTR 1 RettBASE_c.*8503delC; AJ132917.1:c.*8503delC; RettBASE deletion 3' UTR 1 RettBASE_c.1155_1172del18 AJ132917.1:c.1155_1172del18 RettBASE deletion exon 1 RettBASE_c.1373G>A AJ132917.1:c.1373G>A RettBASE substitution exon 1 RettBASE_c.1448_*29del43 AJ132917.1:c.1448_*29del43 RettBASE deletion not within known transcription unit 1 RettBASE_c.404-53C>T NM_003159:c.404-53C>T RettBASE substitution intron 1 RettBASE_c.3003C>T NM_003159:c.3003C>T RettBASE substitution intron 1 RettBASE_CDKL5:c.*15C>T NM_003159:c.*15C>T RettBASE substitution 3' UTR 1 RettBASE_c.1675C>T NM_003159:c.1675C>T RettBASE substitution exon 1 RettBASE_c.455C>G AJ132917.1:c.455C>G RettBASE substitution exon 1 RettBASE_c.683C>G AJ132917.1:c.683C>G RettBASE substitution exon 1 RettBASE_c.*8503dupC AJ132917.1:c.*8503dupC RettBASE duplication 3' UTR 1 RettBASE_c.1121_1311del191 AJ132917.1:c.1121_1311del191 RettBASE deletion exon 1 RettBASE_c.1332del9 AJ132917.1:c.1332del9 RettBASE deletion exon 1 RettBASE_c.1363G>T AJ132917.1:c.1363G>T RettBASE substitution exon 1 RettBASE_c.334A>T AJ132917.1:c.334A>T RettBASE substitution exon 1 RettBASE_c.871T>G AJ132917.1:c.871T>G RettBASE substitution exon 1 RettBASE_c.1335G>A AJ132917.1:c.1335G>A RettBASE substitution exon 1 RettBASE_p.F157L P51608:p.F157L RettBASE substitution exon 1 RettBASE_c.398G>T AJ132917.1:c.398G>T RettBASE substitution exon 1 RettBASE_c.1460G>T AJ132917.1:c.1460G>T RettBASE substitution exon 1 RettBASE_c.*92C>G AJ132917.1:c.*92C>G RettBASE substitution 3' UTR 1 RettBASE_c.377+28A>G AJ132917.1:c.377+28A>G RettBASE substitution intron 1 RettBASE_c.1014C>T AJ132917.1:c.1014C>T RettBASE substitution intron 1 RettBASE_c.378-17delT AJ132917.1:c.378-17delT RettBASE deletion intron 1 RettBASE_c.1161_1169del9 AJ132917.1:c.1161_1169del9 RettBASE deletion intron 1 RettBASE_c.1178C>T AJ132917.1:c.1178C>T RettBASE substitution intron 1 RettBASE_c.1181_1191del11 AJ132917.1:c.1181_1191del11 RettBASE deletion intron 1 RettBASE_c.*14G>A AJ132917.1:c.*14G>A RettBASE substitution not within known transcription unit 1 RettBASE_c.1133C>G AJ132917.1:c.1133C>G RettBASE substitution exon 1 RettBASE_c.856_859delAAAG AJ132917.1:c.856_859delAAAG RettBASE deletion exon 1 RettBASE_c.1180G>A AJ132917.1:c.1180G>A RettBASE substitution exon 1 RettBASE_c.1035A>G AJ132917.1:c.1035A>G RettBASE substitution exon 1 RettBASE_CDKL5:c.*131_*132delinsAT NM_003159:c.*131_*132delinsAT RettBASE complex 3' UTR 1 RettBASE_c.1322_1330del9 AJ132917.1:c.1322_1330del9 RettBASE deletion exon 1 RettBASE_c.276_277insG AJ132917.1:c.276_277insG RettBASE insertion exon 1 RettBASE_c.1162_1179del18 AJ132917.1:c.1162_1179del18 RettBASE deletion exon 1 RettBASE_c.582C>T AJ132917.1:c.582C>T RettBASE substitution exon 1 RettBASE_c.3084G>C NM_003159:c.3084G>C RettBASE substitution exon 1 RettBASE_MECP2_e1:c.1A>T BX538060:c.1A>T RettBASE substitution exon 1 RettBASE_c.1-?_26+?del AJ132917.1:c.1-?_26+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.1-?dup AJ132917.1:c.1-?dup RettBASE duplication not within known transcription unit 0 RettBASE_c.1-?_26+?dup AJ132917.1:c.1-?_26+?dup RettBASE duplication not within known transcription unit 0 RettBASE_MECP2_e1:c.1A>G BX538060:c.1A>G RettBASE substitution exon 1 RettBASE_MECP2_e1:c.5C>T BX538060:c.5C>T RettBASE substitution exon 1 RettBASE_MECP2_e1:c.15_23dup9 BX538060:c.15_23dup9 RettBASE duplication exon 1 RettBASE_MECP2_e1:c.18_23dup6 BX538060:c.18_23dup6 RettBASE duplication exon 1 RettBASE_MECP2_e1:c.18_23del6 BX538060:c.18_23del6 RettBASE deletion exon 1 RettBASE_MECP2_e1:c.21_23dup3 BX538060:c.21_23dup3 RettBASE duplication exon 1 RettBASE_MECP2_e1:c.23_27dupCGCCG BX538060:c.23_27dupCGCCG RettBASE duplication exon 1 RettBASE_c.26+2T>A AJ132917.1:c.26+2T>A RettBASE substitution intron 1 RettBASE_c.27-8C>G AJ132917.1:c.27-8C>G RettBASE substitution intron 1 RettBASE_c.27-6C>G AJ132917.1:c.27-6C>G RettBASE substitution intron 1 RettBASE_c.27-2A>G AJ132917.1:c.27-2A>G RettBASE substitution intron 1 RettBASE_c.27-9A>G AJ132917.1:c.27-9A>G RettBASE substitution intron 1 RettBASE_c.27-12521_*5072del19784 AJ132917.1:c.27-12521_*5072del19784 RettBASE deletion not within known transcription unit 1 RettBASE_c.27-55G>A AJ132917.1:c.27-55G>A RettBASE substitution intron 1 RettBASE_c.27-?_1337+?del AJ132917.1:c.27-?_1337+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.27-?_1185+?del AJ132917.1:c.27-?_1185+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.27-96_1205del AJ132917.1:c.27-96_1205del RettBASE deletion not within known transcription unit 1 RettBASE_c.27-4722_*739delins43 AJ132917.1:c.27-4722_*739delins43 RettBASE complex not within known transcription unit 1 RettBASE_c.27-4722_*112delinsCACTTTGTG AJ132917.1:c.27-4722_*112delinsCACTTTGTG RettBASE complex not within known transcription unit 1 RettBASE_c.27-6026_1190delinsGT AJ132917.1:c.27-6026_1190delinsGT RettBASE complex not within known transcription unit 1 RettBASE_c.27-3928_1184del AJ132917.1:c.27-3928_1184del RettBASE deletion not within known transcription unit 1 RettBASE_c.27-5774_902delinsGTGCCCGGACTGATGTCA AJ132917.1:c.27-5774_902delinsGTGCCCGGACTGATGTCA RettBASE complex not within known transcription unit 1 RettBASE_c.27-?_378+?del AJ132917.1:c.27-?_378+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.27-?_1021+?del AJ132917.1:c.27-?_1021+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.27-?_1170+?del AJ132917.1:c.27-?_1170+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.27-?_1018+?del AJ132917.1:c.27-?_1018+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.27-?_1397+?del AJ132917.1:c.27-?_1397+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.28G>C AJ132917.1:c.28G>C RettBASE substitution exon 1 RettBASE_c.28G>T AJ132917.1:c.28G>T RettBASE substitution exon 1 RettBASE_MECP2_e1:c.30delCinsGA BX538060:c.30delCinsGA RettBASE complex exon 1 RettBASE_c.35_42dup AJ132917.1:c.35_42dup RettBASE duplication exon 1 RettBASE_c.36G>C AJ132917.1:c.36G>C RettBASE substitution exon 1 RettBASE_CDKL5:c.39delT NM_003159:c.39delT RettBASE deletion exon 1 RettBASE_MECP2_e1:c.42_47dupAGGAGG BX538060:c.42_47dupAGGAGG RettBASE duplication exon 1 RettBASE_MECP2_e1:c.45_47dupAGG BX538060:c.45_47dupAGG RettBASE duplication exon 1 RettBASE_c.46C>T AJ132917.1:c.46C>T RettBASE substitution exon 1 RettBASE_MECP2_e1:c.47_57del11 BX538060:c.47_57del11 RettBASE deletion exon 1 RettBASE_MECP2_e1:c.48_55dup BX538060:c.48_55dup RettBASE duplication exon 1 RettBASE_MECP2_e1:c.49G>A BX538060:c.49G>A RettBASE substitution exon 1 RettBASE_c.50dupA AJ132917.1:c.50dupA RettBASE duplication exon 1 RettBASE_c.55C>T AJ132917.1:c.55C>T RettBASE substitution exon 1 RettBASE_c.56dupA AJ132917.1:c.56dupA RettBASE duplication exon 1 RettBASE_CDKL5:c.58G>C NM_003159:c.58G>C RettBASE substitution exon 1 RettBASE_MECP2_e1:c.59_60delGA BX538060:c.59_60delGA RettBASE deletion exon 1 RettBASE_MECP2_e1:c.62+2_62+3delTG BX538060:c.62+2_62+3delTG RettBASE deletion intron 1 RettBASE_MECP2_e1:c.62+1G>A BX538060:c.62+1G>A RettBASE substitution intron 1 RettBASE_c.64A>T AJ132917.1:c.64A>T RettBASE substitution exon 1 RettBASE_CDKL5:c.64+2delT NM_003159:c.64+2delT RettBASE deletion intron 1 RettBASE_CDKL5:c.65dupG NM_003159:c.65dupG RettBASE duplication exon 1 RettBASE_c.76delC AJ132917.1:c.76delC RettBASE deletion exon 1 RettBASE_c.91delG AJ132917.1:c.91delG RettBASE deletion exon 1 RettBASE_CDKL5:c.99+1G>T NM_003159:c.99+1G>T RettBASE substitution intron 1 RettBASE_CDKL5:c.99+29T>G NM_003159:c.99+29T>G RettBASE substitution intron 1 RettBASE_c.100_103delGATA AJ132917.1:c.100_103delGATA RettBASE deletion exon 1 RettBASE_CDKL5:c.100-2A>G NM_003159:c.100-2A>G RettBASE substitution intron 1 RettBASE_c.107_113del7 AJ132917.1:c.107_113del7 RettBASE deletion exon 1 RettBASE_c.107_108delAA AJ132917.1:c.107_108delAA RettBASE deletion exon 1 RettBASE_c.108_111delAGAA AJ132917.1:c.108_111delAGAA RettBASE deletion exon 1 RettBASE_c.117dupA AJ132917.1:c.117dupA RettBASE duplication exon 1 RettBASE_c.119_120delAG AJ132917.1:c.119_120delAG RettBASE deletion exon 1 RettBASE_CDKL5:c.119C>T NM_003159:c.119C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.125A>G NM_003159:c.125A>G RettBASE substitution exon 1 RettBASE_c.126dupG AJ132917.1:c.126dupG RettBASE duplication exon 1 RettBASE_c.140dupA AJ132917.1:c.140dupA RettBASE duplication exon 1 RettBASE_CDKL5:c.145+2T>C NM_003159:c.145+2T>C RettBASE substitution intron 1 RettBASE_CDKL5:c.145+4AT(11_13) NM_003159:c.145+4AT(11_13) RettBASE complex intron 1 RettBASE_c.146C>A AJ132917.1:c.146C>A RettBASE substitution exon 1 RettBASE_c.146C>G AJ132917.1:c.146C>G RettBASE substitution exon 1 RettBASE_c.153C>G AJ132917.1:c.153C>G RettBASE substitution exon 1 RettBASE_c.155A>G AJ132917.1:c.155A>G RettBASE substitution exon 1 RettBASE_CDKL5:c.163_166delGAAA NM_003159:c.163_166delGAAA RettBASE deletion exon 1 RettBASE_c.167_168delCC AJ132917.1:c.167_168delCC RettBASE deletion exon 1 RettBASE_c.168C>T AJ132917.1:c.168C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.175C>T NM_003159:c.175C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.183delT NM_003159:c.183delT RettBASE deletion exon 1 RettBASE_c.189_190delGA AJ132917.1:c.189_190delGA RettBASE deletion exon 1 RettBASE_CDKL5:c.191T>C NM_003159:c.191T>C RettBASE substitution exon 1 RettBASE_c.194C>G AJ132917.1:c.194C>G RettBASE substitution exon 1 RettBASE_CDKL5:c.194G>A NM_003159:c.194G>A RettBASE substitution exon 1 RettBASE_CDKL5:c.199C>T NM_003159:c.199C>T RettBASE substitution exon 1 RettBASE_c.201delG AJ132917.1:c.201delG RettBASE deletion exon 1 RettBASE_c.203C>G AJ132917.1:c.203C>G RettBASE substitution exon 1 RettBASE_c.210C>T AJ132917.1:c.210C>T RettBASE substitution exon 1 RettBASE_c.215C>T AJ132917.1:c.215C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.215T>A NM_003159:c.215T>A RettBASE substitution exon 1 RettBASE_c.215dupC AJ132917.1:c.215dupC RettBASE duplication exon 1 RettBASE_c.215_216insT AJ132917.1:c.215_216insT RettBASE insertion exon 1 RettBASE_CDKL5:c.215T>C NM_003159:c.215T>C RettBASE substitution exon 1 RettBASE_CDKL5:c.216T>A NM_003159:c.216T>A RettBASE substitution exon 1 RettBASE_c.224C>T AJ132917.1:c.224C>T RettBASE substitution exon 1 RettBASE_c.225G>A AJ132917.1:c.225G>A RettBASE substitution exon 1 RettBASE_c.229_238del10 AJ132917.1:c.229_238del10 RettBASE deletion exon 1 RettBASE_CDKL5:c.229_232delGAAG NM_003159:c.229_232delGAAG RettBASE deletion exon 1 RettBASE_c.233delC AJ132917.1:c.233delC RettBASE deletion exon 1 RettBASE_c.243dupC AJ132917.1:c.243dupC RettBASE duplication exon 1 RettBASE_c.245A>G AJ132917.1:c.245A>G RettBASE substitution exon 1 RettBASE_c.249_250ins7 AJ132917.1:c.249_250ins7 RettBASE insertion exon 1 RettBASE_c.257C>G AJ132917.1:c.257C>G RettBASE substitution exon 1 RettBASE_c.258_259delCA AJ132917.1:c.258_259delCA RettBASE deletion exon 1 RettBASE_FOXG1:c.263_278del16 NG_009367:c.263_278del16 RettBASE deletion exon 1 RettBASE_c.274G>T AJ132917.1:c.274G>T RettBASE substitution exon 1 RettBASE_c.275dupG AJ132917.1:c.275dupG RettBASE duplication exon 1 RettBASE_c.277C>T AJ132917.1:c.277C>T RettBASE substitution exon 1 RettBASE_c.279C>T AJ132917.1:c.279C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.283-43G>A NM_003159:c.283-43G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.283-99C>A NM_003159:c.283-99C>A RettBASE substitution intron 1 RettBASE_c.289G>T AJ132917.1:c.289G>T RettBASE substitution exon 1 RettBASE_c.291C>A AJ132917.1:c.291C>A RettBASE substitution exon 1 RettBASE_c.295_297delACC AJ132917.1:c.295_297delACC RettBASE deletion exon 1 RettBASE_c.297C>G AJ132917.1:c.297C>G RettBASE substitution exon 1 RettBASE_c.298C>G AJ132917.1:c.298C>G RettBASE substitution exon 1 RettBASE_c.299T>G AJ132917.1:c.299T>G RettBASE substitution exon 1 RettBASE_c.301C>T AJ132917.1:c.301C>T RettBASE substitution exon 1 RettBASE_c.302C>G AJ132917.1:c.302C>G RettBASE substitution exon 1 RettBASE_c.302C>A AJ132917.1:c.302C>A RettBASE substitution exon 1 RettBASE_c.302C>T AJ132917.1:c.302C>T RettBASE substitution exon 1 RettBASE_c.308G>A AJ132917.1:c.308G>A RettBASE substitution exon 1 RettBASE_c.310T>C AJ132917.1:c.310T>C RettBASE substitution exon 1 RettBASE_c.311_323del13 AJ132917.1:c.311_323del13 RettBASE deletion exon 1 RettBASE_c.311G>A AJ132917.1:c.311G>A RettBASE substitution exon 1 RettBASE_c.315dupA AJ132917.1:c.315dupA RettBASE duplication exon 1 RettBASE_c.316C>G AJ132917.1:c.316C>G RettBASE substitution exon 1 RettBASE_c.317G>A AJ132917.1:c.317G>A RettBASE substitution exon 1 RettBASE_c.317G>T AJ132917.1:c.317G>T RettBASE substitution exon 1 RettBASE_c.323T>A AJ132917.1:c.323T>A RettBASE substitution exon 1 RettBASE_c.326dupA AJ132917.1:c.326dupA RettBASE duplication exon 1 RettBASE_c.331A>G AJ132917.1:c.331A>G RettBASE substitution exon 1 RettBASE_c.341G>C AJ132917.1:c.341G>C RettBASE substitution exon 1 RettBASE_c.343_1182del1596 AJ132917.1:c.343_1182del1596 RettBASE deletion exon 1 RettBASE_c.345delC AJ132917.1:c.345delC RettBASE deletion exon 1 RettBASE_CDKL5:c.352C>T NM_003159:c.352C>T RettBASE substitution exon 1 RettBASE_c.358T>G AJ132917.1:c.358T>G RettBASE substitution exon 1 RettBASE_c.362A>G AJ132917.1:c.362A>G RettBASE substitution exon 1 RettBASE_c.364G>A AJ132917.1:c.364G>A RettBASE substitution exon 1 RettBASE_c.365T>C AJ132917.1:c.365T>C RettBASE substitution exon 1 RettBASE_c.372G>C AJ132917.1:c.372G>C RettBASE substitution exon 1 RettBASE_c.372G>T AJ132917.1:c.372G>T RettBASE substitution exon 1 RettBASE_c.375delC AJ132917.1:c.375delC RettBASE deletion exon 1 RettBASE_c.375C>A AJ132917.1:c.375C>A RettBASE substitution exon 1 RettBASE_c.377+2T>G AJ132917.1:c.377+2T>G RettBASE substitution intron 1 RettBASE_c.377+6_377+9del AJ132917.1:c.377+6_377+9del RettBASE deletion intron 1 RettBASE_c.377+95G>A AJ132917.1:c.377+95G>A RettBASE substitution intron 1 RettBASE_c.377+18C>G AJ132917.1:c.377+18C>G RettBASE substitution intron 1 RettBASE_c.377+24C>A AJ132917.1:c.377+24C>A RettBASE substitution intron 1 RettBASE_c.377+1G>T AJ132917.1:c.377+1G>T RettBASE substitution intron 1 RettBASE_c.377+266T>C AJ132917.1:c.377+266T>C RettBASE substitution intron 1 RettBASE_c.377+1G>A AJ132917.1:c.377+1G>A RettBASE substitution intron 1 RettBASE_c.378-2A>G AJ132917.1:c.378-2A>G RettBASE substitution intron 1 RettBASE_c.378-2A>C AJ132917.1:c.378-2A>C RettBASE substitution intron 1 RettBASE_c.378-241C>T AJ132917.1:c.378-241C>T RettBASE substitution intron 1 RettBASE_c.378-3C>G AJ132917.1:c.378-3C>G RettBASE substitution intron 1 RettBASE_c.378-?_1337+?del AJ132917.1:c.378-?_1337+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.378-?_1185+?del AJ132917.1:c.378-?_1185+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.378-2A>T AJ132917.1:c.378-2A>T RettBASE substitution intron 1 RettBASE_c.378-?_1170+?del AJ132917.1:c.378-?_1170+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.378-3_383del9 AJ132917.1:c.378-3_383del9 RettBASE deletion not within known transcription unit 1 RettBASE_c.378-109A>G AJ132917.1:c.378-109A>G RettBASE substitution intron 1 RettBASE_c.378-14G>A AJ132917.1:c.378-14G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.380A>G NM_003159:c.380A>G RettBASE substitution exon 1 RettBASE_c.382C>T AJ132917.1:c.382C>T RettBASE substitution exon 1 RettBASE_c.382_1189del808 AJ132917.1:c.382_1189del808 RettBASE deletion exon 1 RettBASE_c.383A>C AJ132917.1:c.383A>C RettBASE substitution exon 1 RettBASE_c.386G>T AJ132917.1:c.386G>T RettBASE substitution exon 1 RettBASE_c.392C>A AJ132917.1:c.392C>A RettBASE substitution exon 1 RettBASE_c.393C>G AJ132917.1:c.393C>G RettBASE substitution exon 1 RettBASE_c.397C>G AJ132917.1:c.397C>G RettBASE substitution exon 1 RettBASE_c.398G>A AJ132917.1:c.398G>A RettBASE substitution exon 1 RettBASE_c.400T>C AJ132917.1:c.400T>C RettBASE substitution exon 1 RettBASE_CDKL5:c.400C>T NM_003159:c.400C>T RettBASE substitution exon 1 RettBASE_c.401C>G AJ132917.1:c.401C>G RettBASE substitution exon 1 RettBASE_c.401C>T AJ132917.1:c.401C>T RettBASE substitution exon 1 RettBASE_c.403A>G AJ132917.1:c.403A>G RettBASE substitution exon 1 RettBASE_CDKL5:c.403+49_403+53delTTAAG NM_003159:c.403+49_403+53delTTAAG RettBASE deletion intron 1 RettBASE_CDKL5:c.404-1G>T NM_003159:c.404-1G>T RettBASE substitution intron 1 RettBASE_c.410A>G AJ132917.1:c.410A>G RettBASE substitution exon 1 RettBASE_c.411delG AJ132917.1:c.411delG RettBASE deletion exon 1 RettBASE_c.413T>A AJ132917.1:c.413T>A RettBASE substitution exon 1 RettBASE_c.413T>C AJ132917.1:c.413T>C RettBASE substitution exon 1 RettBASE_c.419C>T AJ132917.1:c.419C>T RettBASE substitution exon 1 RettBASE_c.420delG AJ132917.1:c.420delG RettBASE deletion exon 1 RettBASE_c.422dupA AJ132917.1:c.422dupA RettBASE duplication exon 1 RettBASE_c.422A>G AJ132917.1:c.422A>G RettBASE substitution exon 1 RettBASE_c.423C>G AJ132917.1:c.423C>G RettBASE substitution exon 1 RettBASE_CDKL5:c.425T>A NM_003159:c.425T>A RettBASE substitution exon 1 RettBASE_c.428_429insT AJ132917.1:c.428_429insT RettBASE insertion exon 1 RettBASE_c.430A>T AJ132917.1:c.430A>T RettBASE substitution exon 1 RettBASE_c.431delA AJ132917.1:c.431delA RettBASE deletion exon 1 RettBASE_c.439delG AJ132917.1:c.439delG RettBASE deletion exon 1 RettBASE_c.451delG AJ132917.1:c.451delG RettBASE deletion exon 1 RettBASE_c.452A>G AJ132917.1:c.452A>G RettBASE substitution exon 1 RettBASE_c.454C>G AJ132917.1:c.454C>G RettBASE substitution exon 1 RettBASE_CDKL5:c.455G>T NM_003159:c.455G>T RettBASE substitution exon 1 RettBASE_FOXG1:c.460dupG NG_009367:c.460dupG RettBASE duplication exon 1 RettBASE_c.463T>A AJ132917.1:c.463T>A RettBASE substitution exon 1 RettBASE_CDKL5:c.463+22T>C NM_003159:c.463+22T>C RettBASE substitution intron 1 RettBASE_CDKL5:c.463+1G>A NM_003159:c.463+1G>A RettBASE substitution intron 1 RettBASE_c.464T>C AJ132917.1:c.464T>C RettBASE substitution exon 1 RettBASE_c.464T>G AJ132917.1:c.464T>G RettBASE substitution exon 1 RettBASE_CDKL5:c.464-2A>G NM_003159:c.464-2A>G RettBASE substitution intron 1 RettBASE_CDKL5:c.464-40_464-37delCTTT NM_003159:c.464-40_464-37delCTTT RettBASE deletion intron 1 RettBASE_c.467A>G AJ132917.1:c.467A>G RettBASE substitution exon 1 RettBASE_c.467A>C AJ132917.1:c.467A>C RettBASE substitution exon 1 RettBASE_c.468C>T AJ132917.1:c.468C>T RettBASE substitution exon 1 RettBASE_c.469T>A AJ132917.1:c.469T>A RettBASE substitution exon 1 RettBASE_c.470dupT AJ132917.1:c.470dupT RettBASE duplication exon 1 RettBASE_c.470_471delTC AJ132917.1:c.470_471delTC RettBASE deletion exon 1 RettBASE_c.471C>G AJ132917.1:c.471C>G RettBASE substitution exon 1 RettBASE_c.472A>G AJ132917.1:c.472A>G RettBASE substitution exon 1 RettBASE_c.474G>A AJ132917.1:c.474G>A RettBASE substitution exon 1 RettBASE_c.475delG AJ132917.1:c.475delG RettBASE deletion exon 1 RettBASE_c.479C>G AJ132917.1:c.479C>G RettBASE substitution exon 1 RettBASE_c.480_481delTG AJ132917.1:c.480_481delTG RettBASE deletion exon 1 RettBASE_c.480delT AJ132917.1:c.480delT RettBASE deletion exon 1 RettBASE_c.481G>T AJ132917.1:c.481G>T RettBASE substitution exon 1 RettBASE_c.481_987del507ins8 AJ132917.1:c.481_987del507ins8 RettBASE complex exon 1 RettBASE_c.482G>T AJ132917.1:c.482G>T RettBASE substitution exon 1 RettBASE_c.482G>A AJ132917.1:c.482G>A RettBASE substitution exon 1 RettBASE_c.483delG AJ132917.1:c.483delG RettBASE deletion exon 1 RettBASE_c.484dupA AJ132917.1:c.484dupA RettBASE duplication exon 1 RettBASE_c.488_489delGG AJ132917.1:c.488_489delGG RettBASE deletion exon 1 RettBASE_c.488_1189del702 AJ132917.1:c.488_1189del702 RettBASE deletion exon 1 RettBASE_c.495delC AJ132917.1:c.495delC RettBASE deletion exon 1 RettBASE_c.499C>T AJ132917.1:c.499C>T RettBASE substitution exon 1 RettBASE_c.508C>T AJ132917.1:c.508C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.513C>A NM_003159:c.513C>A RettBASE substitution exon 1 RettBASE_c.514C>T AJ132917.1:c.514C>T RettBASE substitution exon 1 RettBASE_c.515C>T AJ132917.1:c.515C>T RettBASE substitution exon 1 RettBASE_c.517C>G AJ132917.1:c.517C>G RettBASE substitution exon 1 RettBASE_c.518C>G AJ132917.1:c.518C>G RettBASE substitution exon 1 RettBASE_c.523A>T AJ132917.1:c.523A>T RettBASE substitution exon 1 RettBASE_CDKL5:c.525A>T NM_003159:c.525A>T RettBASE substitution exon 1 RettBASE_c.527C>G AJ132917.1:c.527C>G RettBASE substitution exon 1 RettBASE_c.529A>T AJ132917.1:c.529A>T RettBASE substitution exon 1 RettBASE_c.531delA AJ132917.1:c.531delA RettBASE deletion exon 1 RettBASE_CDKL5:c.532C>T NM_003159:c.532C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.533G>C NM_003159:c.533G>C RettBASE substitution exon 1 RettBASE_CDKL5:c.533G>A NM_003159:c.533G>A RettBASE substitution exon 1 RettBASE_c.538A>T AJ132917.1:c.538A>T RettBASE substitution exon 1 RettBASE_CDKL5:c.539C>T NM_003159:c.539C>T RettBASE substitution exon 1 RettBASE_c.542C>T AJ132917.1:c.542C>T RettBASE substitution exon 1 RettBASE_c.543_544delTC AJ132917.1:c.543_544delTC RettBASE deletion exon 1 RettBASE_c.547G>C AJ132917.1:c.547G>C RettBASE substitution exon 1 RettBASE_CDKL5:c.549dupA NM_003159:c.549dupA RettBASE duplication exon 1 RettBASE_c.554delG AJ132917.1:c.554delG RettBASE deletion exon 1 RettBASE_CDKL5:c.554+11G>A NM_003159:c.554+11G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.555-19C>G NM_003159:c.555-19C>G RettBASE substitution intron 1 RettBASE_c.566delG AJ132917.1:c.566delG RettBASE deletion exon 1 RettBASE_c.566dupG AJ132917.1:c.566dupG RettBASE duplication exon 1 RettBASE_c.567dupA AJ132917.1:c.567dupA RettBASE duplication exon 1 RettBASE_c.573C>T AJ132917.1:c.573C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.578A>G NM_003159:c.578A>G RettBASE substitution exon 1 RettBASE_c.585C>T AJ132917.1:c.585C>T RettBASE substitution exon 1 RettBASE_c.587C>G AJ132917.1:c.587C>G RettBASE substitution exon 1 RettBASE_CDKL5:c.587C>T NM_003159:c.587C>T RettBASE substitution exon 1 RettBASE_c.591G>A AJ132917.1:c.591G>A RettBASE substitution exon 1 RettBASE_c.592A>T AJ132917.1:c.592A>T RettBASE substitution exon 1 RettBASE_c.596C>A AJ132917.1:c.596C>A RettBASE substitution exon 1 RettBASE_c.598A>T AJ132917.1:c.598A>T RettBASE substitution exon 1 RettBASE_c.601dupG AJ132917.1:c.601dupG RettBASE duplication exon 1 RettBASE_c.603G>A AJ132917.1:c.603G>A RettBASE substitution exon 1 RettBASE_CDKL5:c.607G>T NM_003159:c.607G>T RettBASE substitution exon 1 RettBASE_c.608_609insA AJ132917.1:c.608_609insA RettBASE insertion exon 1 RettBASE_c.611C>G AJ132917.1:c.611C>G RettBASE substitution exon 1 RettBASE_c.611_612delinsAG AJ132917.1:c.611_612delinsAG RettBASE complex exon 1 RettBASE_c.613G>T AJ132917.1:c.613G>T RettBASE substitution exon 1 RettBASE_c.616_1122del507 AJ132917.1:c.616_1122del507 RettBASE deletion exon 1 RettBASE_c.617delG AJ132917.1:c.617delG RettBASE deletion exon 1 RettBASE_c.617G>C AJ132917.1:c.617G>C RettBASE substitution exon 1 RettBASE_c.617G>A AJ132917.1:c.617G>A RettBASE substitution exon 1 RettBASE_c.620dupT AJ132917.1:c.620dupT RettBASE duplication exon 1 RettBASE_c.622C>T AJ132917.1:c.622C>T RettBASE substitution exon 1 RettBASE_c.629A>T AJ132917.1:c.629A>T RettBASE substitution exon 1 RettBASE_c.631-?_657+?del AJ132917.1:c.631-?_657+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.631-?_657+?dup AJ132917.1:c.631-?_657+?dup RettBASE duplication not within known transcription unit 0 RettBASE_c.633G>C AJ132917.1:c.633G>C RettBASE substitution exon 1 RettBASE_c.635_655del21 AJ132917.1:c.635_655del21 RettBASE deletion exon 1 RettBASE_c.651_652delTG AJ132917.1:c.651_652delTG RettBASE deletion exon 1 RettBASE_c.654_657delGAAG AJ132917.1:c.654_657delGAAG RettBASE deletion exon 1 RettBASE_CDKL5:c.659T>C NM_003159:c.659T>C RettBASE substitution exon 1 RettBASE_c.660C>T AJ132917.1:c.660C>T RettBASE substitution exon 1 RettBASE_c.666C>G AJ132917.1:c.666C>G RettBASE substitution exon 1 RettBASE_c.673C>A AJ132917.1:c.673C>A RettBASE substitution exon 1 RettBASE_c.674C>T AJ132917.1:c.674C>T RettBASE substitution exon 1 RettBASE_c.676_677insA AJ132917.1:c.676_677insA RettBASE insertion exon 1 RettBASE_c.677_678insA AJ132917.1:c.677_678insA RettBASE insertion exon 1 RettBASE_c.679C>G AJ132917.1:c.679C>G RettBASE substitution exon 1 RettBASE_CDKL5:c.680T>G NM_003159:c.680T>G RettBASE substitution exon 1 RettBASE_c.686C>T AJ132917.1:c.686C>T RettBASE substitution exon 1 RettBASE_c.686C>A AJ132917.1:c.686C>A RettBASE substitution exon 1 RettBASE_c.689_756del68 AJ132917.1:c.689_756del68 RettBASE deletion exon 1 RettBASE_c.690A>C AJ132917.1:c.690A>C RettBASE substitution exon 1 RettBASE_c.695delG AJ132917.1:c.695delG RettBASE deletion exon 1 RettBASE_c.695dupG AJ132917.1:c.695dupG RettBASE duplication exon 1 RettBASE_c.696delC AJ132917.1:c.696delC RettBASE deletion exon 1 RettBASE_c.710dupG AJ132917.1:c.710dupG RettBASE duplication exon 1 RettBASE_c.710delG AJ132917.1:c.710delG RettBASE deletion exon 1 RettBASE_c.711_1269del559 AJ132917.1:c.711_1269del559 RettBASE deletion exon 1 RettBASE_c.715delG AJ132917.1:c.715delG RettBASE deletion exon 1 RettBASE_c.720dupC AJ132917.1:c.720dupC RettBASE duplication exon 1 RettBASE_c.720C>T AJ132917.1:c.720C>T RettBASE substitution exon 1 RettBASE_c.720C>G AJ132917.1:c.720C>G RettBASE substitution exon 1 RettBASE_c.730C>T AJ132917.1:c.730C>T RettBASE substitution exon 1 RettBASE_FOXG1:c.730C>T NG_009367:c.730C>T RettBASE substitution exon 1 RettBASE_c.731_1166del436 AJ132917.1:c.731_1166del436 RettBASE deletion exon 1 RettBASE_c.734_759del26 AJ132917.1:c.734_759del26 RettBASE deletion exon 1 RettBASE_c.736_737insAT AJ132917.1:c.736_737insAT RettBASE insertion exon 1 RettBASE_c.736_743delinsGTG AJ132917.1:c.736_743delinsGTG RettBASE complex exon 1 RettBASE_c.739delG AJ132917.1:c.739delG RettBASE deletion exon 1 RettBASE_c.747_751dup5 AJ132917.1:c.747_751dup5 RettBASE duplication exon 1 RettBASE_c.748dupC AJ132917.1:c.748dupC RettBASE duplication exon 1 RettBASE_c.748_753del6insGGCCG AJ132917.1:c.748_753del6insGGCCG RettBASE complex exon 1 RettBASE_c.748_749insT AJ132917.1:c.748_749insT RettBASE insertion exon 1 RettBASE_c.749G>A AJ132917.1:c.749G>A RettBASE substitution exon 1 RettBASE_c.750_750delCinsTCAGGAAGCTT AJ132917.1:c.750_750delCinsTCAGGAAGCTT RettBASE complex exon 1 RettBASE_c.752_753dup AJ132917.1:c.752_753dup RettBASE duplication exon 1 RettBASE_c.752_753dupCC AJ132917.1:c.752_753dupCC RettBASE duplication exon 1 RettBASE_c.753dupC AJ132917.1:c.753dupC RettBASE duplication exon 1 RettBASE_c.753delC AJ132917.1:c.753delC RettBASE deletion exon 1 RettBASE_c.753C>T AJ132917.1:c.753C>T RettBASE substitution exon 1 RettBASE_c.755delG AJ132917.1:c.755delG RettBASE deletion exon 1 RettBASE_c.755dupG AJ132917.1:c.755dupG RettBASE duplication exon 1 RettBASE_FOXG1:c.755G>T NG_009367:c.755G>T RettBASE substitution exon 1 RettBASE_c.756_759delCAGG AJ132917.1:c.756_759delCAGG RettBASE deletion exon 1 RettBASE_c.756_763dup AJ132917.1:c.756_763dup RettBASE duplication exon 1 RettBASE_FOXG1:c.757A>G NG_009367:c.757A>G RettBASE substitution exon 1 RettBASE_c.760A>T AJ132917.1:c.760A>T RettBASE substitution exon 1 RettBASE_c.763_1383del621ins15 AJ132917.1:c.763_1383del621ins15 RettBASE complex exon 1 RettBASE_c.764_765ins8 AJ132917.1:c.764_765ins8 RettBASE insertion exon 1 RettBASE_c.766_779dup14 AJ132917.1:c.766_779dup14 RettBASE duplication exon 1 RettBASE_c.784C>T AJ132917.1:c.784C>T RettBASE substitution exon 1 RettBASE_c.792_793delTC AJ132917.1:c.792_793delTC RettBASE deletion exon 1 RettBASE_c.795C>G AJ132917.1:c.795C>G RettBASE substitution exon 1 RettBASE_c.799A>T AJ132917.1:c.799A>T RettBASE substitution exon 1 RettBASE_CDKL5:c.801_802delTA NM_003159:c.801_802delTA RettBASE deletion exon 1 RettBASE_c.807_*125del780 AJ132917.1:c.807_*125del780 RettBASE deletion not within known transcription unit 1 RettBASE_c.808delC AJ132917.1:c.808delC RettBASE deletion exon 1 RettBASE_c.810_813delAAAG AJ132917.1:c.810_813delAAAG RettBASE deletion exon 1 RettBASE_c.812_818del7 AJ132917.1:c.812_818del7 RettBASE deletion exon 1 RettBASE_c.815C>T AJ132917.1:c.815C>T RettBASE substitution exon 1 RettBASE_c.816_832del17 AJ132917.1:c.816_832del17 RettBASE deletion exon 1 RettBASE_c.819delG AJ132917.1:c.819delG RettBASE deletion exon 1 RettBASE_c.822_1184del363 AJ132917.1:c.822_1184del363 RettBASE deletion exon 1 RettBASE_c.830delC AJ132917.1:c.830delC RettBASE deletion exon 1 RettBASE_c.830_831ins23 AJ132917.1:c.830_831ins23 RettBASE insertion exon 1 RettBASE_c.834_939del106 AJ132917.1:c.834_939del106 RettBASE deletion exon 1 RettBASE_c.836C>T AJ132917.1:c.836C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.838_847del10 NM_003159:c.838_847del10 RettBASE deletion exon 1 RettBASE_c.840C>T AJ132917.1:c.840C>T RettBASE substitution exon 1 RettBASE_c.843C>T AJ132917.1:c.843C>T RettBASE substitution exon 1 RettBASE_c.849_1236del388 AJ132917.1:c.849_1236del388 RettBASE deletion exon 1 RettBASE_c.849C>G AJ132917.1:c.849C>G RettBASE substitution exon 1 RettBASE_c.850A>G AJ132917.1:c.850A>G RettBASE substitution exon 1 RettBASE_c.851_1188del338 AJ132917.1:c.851_1188del338 RettBASE deletion exon 1 RettBASE_c.854dupA AJ132917.1:c.854dupA RettBASE duplication exon 1 RettBASE_CDKL5:c.855A>C NM_003159:c.855A>C RettBASE substitution exon 1 RettBASE_c.857A>G AJ132917.1:c.857A>G RettBASE substitution exon 1 RettBASE_c.859G>C AJ132917.1:c.859G>C RettBASE substitution exon 1 RettBASE_CDKL5:c.863C>T NM_003159:c.863C>T RettBASE substitution exon 1 RettBASE_c.864dupG AJ132917.1:c.864dupG RettBASE duplication exon 1 RettBASE_c.865A>T AJ132917.1:c.865A>T RettBASE substitution exon 1 RettBASE_c.865_866delAA AJ132917.1:c.865_866delAA RettBASE deletion exon 1 RettBASE_CDKL5:c.867dupA NM_003159:c.867dupA RettBASE duplication exon 1 RettBASE_c.869dupA AJ132917.1:c.869dupA RettBASE duplication exon 1 RettBASE_CDKL5:c.872G>A NM_003159:c.872G>A RettBASE substitution exon 1 RettBASE_c.874_875insA AJ132917.1:c.874_875insA RettBASE insertion exon 1 RettBASE_c.880_884del5 AJ132917.1:c.880_884del5 RettBASE deletion exon 1 RettBASE_c.881G>C AJ132917.1:c.881G>C RettBASE substitution exon 1 RettBASE_c.881_902del22 AJ132917.1:c.881_902del22 RettBASE deletion exon 1 RettBASE_c.883delT AJ132917.1:c.883delT RettBASE deletion exon 1 RettBASE_CDKL5:c.884delC NM_003159:c.884delC RettBASE deletion exon 1 RettBASE_c.889C>T AJ132917.1:c.889C>T RettBASE substitution exon 1 RettBASE_c.894_1095del202 AJ132917.1:c.894_1095del202 RettBASE deletion exon 1 RettBASE_c.898_1099del202 AJ132917.1:c.898_1099del202 RettBASE deletion exon 1 RettBASE_c.898G>A AJ132917.1:c.898G>A RettBASE substitution exon 1 RettBASE_c.898_904del7 AJ132917.1:c.898_904del7 RettBASE deletion exon 1 RettBASE_c.898_901del AJ132917.1:c.898_901del RettBASE deletion exon 1 RettBASE_c.898delG AJ132917.1:c.898delG RettBASE deletion exon 1 RettBASE_c.900_908del AJ132917.1:c.900_908del RettBASE deletion exon 1 RettBASE_CDKL5:c.902_903dupGA NM_003159:c.902_903dupGA RettBASE duplication exon 1 RettBASE_c.903C>T AJ132917.1:c.903C>T RettBASE substitution exon 1 RettBASE_c.904C>G AJ132917.1:c.904C>G RettBASE substitution exon 1 RettBASE_c.904C>T AJ132917.1:c.904C>T RettBASE substitution exon 1 RettBASE_c.904C>A AJ132917.1:c.904C>A RettBASE substitution exon 1 RettBASE_CDKL5:c.904C>T NM_003159:c.904C>T RettBASE substitution exon 1 RettBASE_c.905C>G AJ132917.1:c.905C>G RettBASE substitution exon 1 RettBASE_c.905C>A AJ132917.1:c.905C>A RettBASE substitution exon 1 RettBASE_c.905_1138del234insCAC AJ132917.1:c.905_1138del234insCAC RettBASE complex exon 1 RettBASE_c.906C>G AJ132917.1:c.906C>G RettBASE substitution exon 1 RettBASE_c.906delC AJ132917.1:c.906delC RettBASE deletion exon 1 RettBASE_c.908T>G AJ132917.1:c.908T>G RettBASE substitution exon 1 RettBASE_c.909C>G AJ132917.1:c.909C>G RettBASE substitution exon 1 RettBASE_c.910A>G AJ132917.1:c.910A>G RettBASE substitution exon 1 RettBASE_c.911A>G AJ132917.1:c.911A>G RettBASE substitution exon 1 RettBASE_c.913A>G AJ132917.1:c.913A>G RettBASE substitution exon 1 RettBASE_c.914A>G AJ132917.1:c.914A>G RettBASE substitution exon 1 RettBASE_c.914_1172del259 AJ132917.1:c.914_1172del259 RettBASE deletion exon 1 RettBASE_c.917G>A AJ132917.1:c.917G>A RettBASE substitution exon 1 RettBASE_c.925C>T AJ132917.1:c.925C>T RettBASE substitution exon 1 RettBASE_c.932C>T AJ132917.1:c.932C>T RettBASE substitution exon 1 RettBASE_c.942C>T AJ132917.1:c.942C>T RettBASE substitution exon 1 RettBASE_c.943_1140del198ins6 AJ132917.1:c.943_1140del198ins6 RettBASE complex exon 1 RettBASE_c.948C>G AJ132917.1:c.948C>G RettBASE substitution exon 1 RettBASE_c.953A>C AJ132917.1:c.953A>C RettBASE substitution exon 1 RettBASE_c.964C>G AJ132917.1:c.964C>G RettBASE substitution exon 1 RettBASE_c.964C>T AJ132917.1:c.964C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.964dupA NM_003159:c.964dupA RettBASE duplication exon 1 RettBASE_CDKL5:c.978-2A>G NM_003159:c.978-2A>G RettBASE substitution intron 1 RettBASE_CDKL5:c.978-50_978-42del9 NM_003159:c.978-50_978-42del9 RettBASE deletion intron 1 RettBASE_CDKL5:c.978-23T>C NM_003159:c.978-23T>C RettBASE substitution intron 1 RettBASE_c.982C>G AJ132917.1:c.982C>G RettBASE substitution exon 1 RettBASE_c.984C>A AJ132917.1:c.984C>A RettBASE substitution exon 1 RettBASE_c.985G>A AJ132917.1:c.985G>A RettBASE substitution exon 1 RettBASE_c.989_996del8ins18 AJ132917.1:c.989_996del8ins18 RettBASE complex exon 1 RettBASE_c.992A>G AJ132917.1:c.992A>G RettBASE substitution exon 1 RettBASE_c.994_1346del353 AJ132917.1:c.994_1346del353 RettBASE deletion exon 1 RettBASE_c.994_998delAGCGG AJ132917.1:c.994_998delAGCGG RettBASE deletion exon 1 RettBASE_c.996C>T AJ132917.1:c.996C>T RettBASE substitution exon 1 RettBASE_c.1009_1027del19 AJ132917.1:c.1009_1027del19 RettBASE deletion exon 1 RettBASE_c.1012_1202del191 AJ132917.1:c.1012_1202del191 RettBASE deletion exon 1 RettBASE_c.1012_1193del182 AJ132917.1:c.1012_1193del182 RettBASE deletion exon 1 RettBASE_c.1015T>C AJ132917.1:c.1015T>C RettBASE substitution exon 1 RettBASE_c.1017-?_1397+?del AJ132917.1:c.1017-?_1397+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.1023_*14472del14911 AJ132917.1:c.1023_*14472del14911 RettBASE deletion not within known transcription unit 1 RettBASE_c.1030_1195del166insGT AJ132917.1:c.1030_1195del166insGT RettBASE complex exon 1 RettBASE_c.1030C>T AJ132917.1:c.1030C>T RettBASE substitution exon 1 RettBASE_c.1038C>G AJ132917.1:c.1038C>G RettBASE substitution exon 1 RettBASE_c.1039_1195del157insGT AJ132917.1:c.1039_1195del157insGT RettBASE complex exon 1 RettBASE_CDKL5:c.1039C>T NM_003159:c.1039C>T RettBASE substitution exon 1 RettBASE_c.1041_*29del450 AJ132917.1:c.1041_*29del450 RettBASE deletion not within known transcription unit 1 RettBASE_c.1043_1173del131insTG AJ132917.1:c.1043_1173del131insTG RettBASE complex exon 1 RettBASE_c.1046_1206del161 AJ132917.1:c.1046_1206del161 RettBASE deletion exon 1 RettBASE_c.1047_1198del152 AJ132917.1:c.1047_1198del152 RettBASE deletion exon 1 RettBASE_c.1048_1095del48 AJ132917.1:c.1048_1095del48 RettBASE deletion exon 1 RettBASE_c.1052_1200del149 AJ132917.1:c.1052_1200del149 RettBASE deletion exon 1 RettBASE_c.1057_1219del163 AJ132917.1:c.1057_1219del163 RettBASE deletion exon 1 RettBASE_c.1061_1156del96 AJ132917.1:c.1061_1156del96 RettBASE deletion exon 1 RettBASE_c.1065C>T AJ132917.1:c.1065C>T RettBASE substitution exon 1 RettBASE_c.1069_1071delAGC AJ132917.1:c.1069_1071delAGC RettBASE deletion exon 1 RettBASE_c.1072G>A AJ132917.1:c.1072G>A RettBASE substitution exon 1 RettBASE_c.1075T>C AJ132917.1:c.1075T>C RettBASE substitution exon 1 RettBASE_c.1078_*2524del2908 AJ132917.1:c.1078_*2524del2908 RettBASE deletion not within known transcription unit 1 RettBASE_c.1079C>A AJ132917.1:c.1079C>A RettBASE substitution exon 1 RettBASE_CDKL5:c.1079delT NM_003159:c.1079delT RettBASE deletion exon 1 RettBASE_c.1081C>G AJ132917.1:c.1081C>G RettBASE substitution exon 1 RettBASE_CDKL5:c.1082dupC NM_003159:c.1082dupC RettBASE duplication exon 1 RettBASE_c.1087A>T AJ132917.1:c.1087A>T RettBASE substitution exon 1 RettBASE_c.1096_1201del106 AJ132917.1:c.1096_1201del106 RettBASE deletion exon 1 RettBASE_c.1097_*13del378 AJ132917.1:c.1097_*13del378 RettBASE deletion not within known transcription unit 1 RettBASE_c.1097_1203del107 AJ132917.1:c.1097_1203del107 RettBASE deletion exon 1 RettBASE_c.1099_1118del20 AJ132917.1:c.1099_1118del20 RettBASE deletion exon 1 RettBASE_c.1101_1201del101 AJ132917.1:c.1101_1201del101 RettBASE deletion exon 1 RettBASE_c.1101_1396+?del AJ132917.1:c.1101_1396+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.1105delC AJ132917.1:c.1105delC RettBASE deletion exon 1 RettBASE_c.1105_1225del121 AJ132917.1:c.1105_1225del121 RettBASE deletion exon 1 RettBASE_c.1115_1201del87 AJ132917.1:c.1115_1201del87 RettBASE deletion exon 1 RettBASE_c.1115_1326del212 AJ132917.1:c.1115_1326del212 RettBASE deletion exon 1 RettBASE_c.1116_1201del86 AJ132917.1:c.1116_1201del86 RettBASE deletion exon 1 RettBASE_c.1118C>G AJ132917.1:c.1118C>G RettBASE substitution exon 1 RettBASE_c.1121_1191del71 AJ132917.1:c.1121_1191del71 RettBASE deletion exon 1 RettBASE_c.1123_1191del69 AJ132917.1:c.1123_1191del69 RettBASE deletion exon 1 RettBASE_c.1123_1202del80 AJ132917.1:c.1123_1202del80 RettBASE deletion exon 1 RettBASE_c.1127_1179del53 AJ132917.1:c.1127_1179del53 RettBASE deletion exon 1 RettBASE_c.1127C>G AJ132917.1:c.1127C>G RettBASE substitution exon 1 RettBASE_c.1127_1137del11 AJ132917.1:c.1127_1137del11 RettBASE deletion exon 1 RettBASE_c.1128_1179del52 AJ132917.1:c.1128_1179del52 RettBASE deletion exon 1 RettBASE_c.1129_1193del65 AJ132917.1:c.1129_1193del65 RettBASE deletion exon 1 RettBASE_c.1129_*568delinsCCGTGG AJ132917.1:c.1129_*568delinsCCGTGG RettBASE complex not within known transcription unit 1 RettBASE_c.1132_1202del71 AJ132917.1:c.1132_1202del71 RettBASE deletion exon 1 RettBASE_c.1133C>T AJ132917.1:c.1133C>T RettBASE substitution exon 1 RettBASE_c.1135_1142delCCCGTGCC AJ132917.1:c.1135_1142delCCCGTGCC RettBASE deletion exon 1 RettBASE_c.1137C>T AJ132917.1:c.1137C>T RettBASE substitution exon 1 RettBASE_c.1138G>A AJ132917.1:c.1138G>A RettBASE substitution exon 1 RettBASE_c.1141C>G AJ132917.1:c.1141C>G RettBASE substitution exon 1 RettBASE_c.1142_1227del86 AJ132917.1:c.1142_1227del86 RettBASE deletion exon 1 RettBASE_c.1145_1194del50 AJ132917.1:c.1145_1194del50 RettBASE deletion exon 1 RettBASE_c.1150_1192del43 AJ132917.1:c.1150_1192del43 RettBASE deletion exon 1 RettBASE_c.1151_1188del38 AJ132917.1:c.1151_1188del38 RettBASE deletion exon 1 RettBASE_c.1151_1191del41 AJ132917.1:c.1151_1191del41 RettBASE deletion exon 1 RettBASE_c.1151_1183del33 AJ132917.1:c.1151_1183del33 RettBASE deletion exon 1 RettBASE_c.1152_1155del4 AJ132917.1:c.1152_1155del4 RettBASE deletion exon 1 RettBASE_c.1153_1190del38 AJ132917.1:c.1153_1190del38 RettBASE deletion exon 1 RettBASE_c.1154_1185del32 AJ132917.1:c.1154_1185del32 RettBASE deletion exon 1 RettBASE_c.1154_1197del44 AJ132917.1:c.1154_1197del44 RettBASE deletion exon 1 RettBASE_c.1155_1183del29 AJ132917.1:c.1155_1183del29 RettBASE deletion exon 1 RettBASE_c.1156_1200del45 AJ132917.1:c.1156_1200del45 RettBASE deletion exon 1 RettBASE_c.1156_1172del17 AJ132917.1:c.1156_1172del17 RettBASE deletion exon 1 RettBASE_c.1156_1197del42 AJ132917.1:c.1156_1197del42 RettBASE deletion exon 1 RettBASE_c.1156_1157dupCT AJ132917.1:c.1156_1157dupCT RettBASE duplication exon 1 RettBASE_c.1157_1200del44 AJ132917.1:c.1157_1200del44 RettBASE deletion exon 1 RettBASE_c.1157_1187del31 AJ132917.1:c.1157_1187del31 RettBASE deletion exon 1 RettBASE_c.1157_1188del32 AJ132917.1:c.1157_1188del32 RettBASE deletion exon 1 RettBASE_c.1157_1191del35 AJ132917.1:c.1157_1191del35 RettBASE deletion exon 1 RettBASE_c.1157_1192del36 AJ132917.1:c.1157_1192del36 RettBASE deletion exon 1 RettBASE_c.1157_1199del43 AJ132917.1:c.1157_1199del43 RettBASE deletion exon 1 RettBASE_c.1157_*944del1249 AJ132917.1:c.1157_*944del1249 RettBASE deletion not within known transcription unit 1 RettBASE_c.1158_1200del43 AJ132917.1:c.1158_1200del43 RettBASE deletion exon 1 RettBASE_c.1158_1186del29 AJ132917.1:c.1158_1186del29 RettBASE deletion exon 1 RettBASE_c.1158_1198del41 AJ132917.1:c.1158_1198del41 RettBASE deletion exon 1 RettBASE_c.1158_1186del29insCCA AJ132917.1:c.1158_1186del29insCCA RettBASE complex exon 1 RettBASE_c.1158_1201del44 AJ132917.1:c.1158_1201del44 RettBASE deletion exon 1 RettBASE_c.1159_1201del43 AJ132917.1:c.1159_1201del43 RettBASE deletion exon 1 RettBASE_c.1159_1210del52 AJ132917.1:c.1159_1210del52 RettBASE deletion exon 1 RettBASE_c.1159_1193del35 AJ132917.1:c.1159_1193del35 RettBASE deletion exon 1 RettBASE_c.1159_1458del300 AJ132917.1:c.1159_1458del300 RettBASE deletion exon 1 RettBASE_c.1159_1160ins300 AJ132917.1:c.1159_1160ins300 RettBASE insertion exon 1 RettBASE_c.1159_1160delCCinsT AJ132917.1:c.1159_1160delCCinsT RettBASE complex exon 1 RettBASE_c.1160_1185del26 AJ132917.1:c.1160_1185del26 RettBASE deletion exon 1 RettBASE_c.1160_1200del41 AJ132917.1:c.1160_1200del41 RettBASE deletion exon 1 RettBASE_c.1160C>T AJ132917.1:c.1160C>T RettBASE substitution exon 1 RettBASE_c.1160_1188del29 AJ132917.1:c.1160_1188del29 RettBASE deletion exon 1 RettBASE_c.1160_1180del21 AJ132917.1:c.1160_1180del21 RettBASE deletion exon 1 RettBASE_c.1160_1166del7 AJ132917.1:c.1160_1166del7 RettBASE deletion exon 1 RettBASE_c.1161_1400del240 AJ132917.1:c.1161_1400del240 RettBASE deletion exon 1 RettBASE_c.1161_1205del45insA AJ132917.1:c.1161_1205del45insA RettBASE complex exon 1 RettBASE_c.1162C>T AJ132917.1:c.1162C>T RettBASE substitution exon 1 RettBASE_c.1162_1163delinsTA AJ132917.1:c.1162_1163delinsTA RettBASE complex exon 1 RettBASE_c.1162_1191del30 AJ132917.1:c.1162_1191del30 RettBASE deletion exon 1 RettBASE_c.1162_1163delCC AJ132917.1:c.1162_1163delCC RettBASE deletion exon 1 RettBASE_c.1163_1197del35 AJ132917.1:c.1163_1197del35 RettBASE deletion exon 1 RettBASE_c.1163_1188del26 AJ132917.1:c.1163_1188del26 RettBASE deletion exon 1 RettBASE_c.1163_1216del54 AJ132917.1:c.1163_1216del54 RettBASE deletion exon 1 RettBASE_c.1163_*39del338 AJ132917.1:c.1163_*39del338 RettBASE deletion not within known transcription unit 1 RettBASE_c.1163_1179del17 AJ132917.1:c.1163_1179del17 RettBASE deletion exon 1 RettBASE_c.1163C>T AJ132917.1:c.1163C>T RettBASE substitution exon 1 RettBASE_c.1163_1201del39 AJ132917.1:c.1163_1201del39 RettBASE deletion exon 1 RettBASE_c.1164_1206del43 AJ132917.1:c.1164_1206del43 RettBASE deletion exon 1 RettBASE_c.1164_1172del9 AJ132917.1:c.1164_1172del9 RettBASE deletion exon 1 RettBASE_c.1164_1208del45 AJ132917.1:c.1164_1208del45 RettBASE deletion exon 1 RettBASE_c.1164delA AJ132917.1:c.1164delA RettBASE deletion exon 1 RettBASE_c.1165_1233del69ins21 AJ132917.1:c.1165_1233del69ins21 RettBASE complex exon 1 RettBASE_c.1165_1190del26 AJ132917.1:c.1165_1190del26 RettBASE deletion exon 1 RettBASE_c.1168_1173del6 AJ132917.1:c.1168_1173del6 RettBASE deletion exon 1 RettBASE_p.P390fs P51608:p.P390fs RettBASE substitution exon 0 RettBASE_c.1169-?_1170+?del AJ132917.1:c.1169-?_1170+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.1169-?_1397+?del AJ132917.1:c.1169-?_1397+?del RettBASE deletion not within known transcription unit 0 RettBASE_c.1170_1207del38 AJ132917.1:c.1170_1207del38 RettBASE deletion exon 1 RettBASE_c.1176G>A AJ132917.1:c.1176G>A RettBASE substitution exon 1 RettBASE_c.1189G>T AJ132917.1:c.1189G>T RettBASE substitution exon 1 RettBASE_c.1190dupA AJ132917.1:c.1190dupA RettBASE duplication exon 1 RettBASE_c.1194_1195insT AJ132917.1:c.1194_1195insT RettBASE insertion exon 1 RettBASE_c.1196C>T AJ132917.1:c.1196C>T RettBASE substitution exon 1 RettBASE_c.1196_1266del71 AJ132917.1:c.1196_1266del71 RettBASE deletion exon 1 RettBASE_CDKL5:c.1196A>C NM_003159:c.1196A>C RettBASE substitution exon 1 RettBASE_c.1197C>T AJ132917.1:c.1197C>T RettBASE substitution exon 1 RettBASE_c.1197dupC AJ132917.1:c.1197dupC RettBASE duplication exon 1 RettBASE_c.1200dupC AJ132917.1:c.1200dupC RettBASE duplication exon 1 RettBASE_FOXG1:c.1200C>G NG_009367:c.1200C>G RettBASE substitution exon 1 RettBASE_c.1202dupG AJ132917.1:c.1202dupG RettBASE duplication exon 1 RettBASE_c.1205C>T AJ132917.1:c.1205C>T RettBASE substitution exon 1 RettBASE_c.1206C>T AJ132917.1:c.1206C>T RettBASE substitution exon 1 RettBASE_c.1214C>T AJ132917.1:c.1214C>T RettBASE substitution exon 1 RettBASE_c.1214_1230del17 AJ132917.1:c.1214_1230del17 RettBASE deletion exon 1 RettBASE_c.1215C>T AJ132917.1:c.1215C>T RettBASE substitution exon 1 RettBASE_c.1216C>T AJ132917.1:c.1216C>T RettBASE substitution exon 1 RettBASE_c.1223_1265del43 AJ132917.1:c.1223_1265del43 RettBASE deletion exon 1 RettBASE_c.1229G>A AJ132917.1:c.1229G>A RettBASE substitution exon 1 RettBASE_c.1234G>A AJ132917.1:c.1234G>A RettBASE substitution exon 1 RettBASE_c.1235_1260del26 AJ132917.1:c.1235_1260del26 RettBASE deletion exon 1 RettBASE_CDKL5:c.1238C>G NM_003159:c.1238C>G RettBASE substitution exon 1 RettBASE_c.1239C>T AJ132917.1:c.1239C>T RettBASE substitution exon 1 RettBASE_c.1250A>T AJ132917.1:c.1250A>T RettBASE substitution exon 1 RettBASE_c.1265_1289del25insAGCGGCCG AJ132917.1:c.1265_1289del25insAGCGGCCG RettBASE complex exon 1 RettBASE_c.1266C>T AJ132917.1:c.1266C>T RettBASE substitution exon 1 RettBASE_c.1271_1416del146 AJ132917.1:c.1271_1416del146 RettBASE deletion exon 1 RettBASE_c.1276_1461*113del299ins3 AJ132917.1:c.1276_1461*113del299ins3 RettBASE complex not within known transcription unit 1 RettBASE_c.1278C>T AJ132917.1:c.1278C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.1278A>C NM_003159:c.1278A>C RettBASE substitution exon 1 RettBASE_c.1282G>A AJ132917.1:c.1282G>A RettBASE substitution exon 1 RettBASE_c.1284C>T AJ132917.1:c.1284C>T RettBASE substitution exon 1 RettBASE_c.1288C>T AJ132917.1:c.1288C>T RettBASE substitution exon 1 RettBASE_c.1308_1309delTC AJ132917.1:c.1308_1309delTC RettBASE deletion exon 1 RettBASE_CDKL5:c.1311dupC NM_003159:c.1311dupC RettBASE duplication exon 1 RettBASE_c.1315G>A AJ132917.1:c.1315G>A RettBASE substitution exon 1 RettBASE_c.1320dupT AJ132917.1:c.1320dupT RettBASE duplication exon 1 RettBASE_c.1324_1364del41 AJ132917.1:c.1324_1364del41 RettBASE deletion exon 1 RettBASE_c.1324A>G AJ132917.1:c.1324A>G RettBASE substitution exon 1 RettBASE_c.1330G>A AJ132917.1:c.1330G>A RettBASE substitution exon 1 RettBASE_c.1330_1342del13 AJ132917.1:c.1330_1342del13 RettBASE deletion exon 1 RettBASE_CDKL5:c.1330C>T NM_003159:c.1330C>T RettBASE substitution exon 1 RettBASE_c.1339G>A AJ132917.1:c.1339G>A RettBASE substitution exon 1 RettBASE_c.1340C>T AJ132917.1:c.1340C>T RettBASE substitution exon 1 RettBASE_c.1357C>T AJ132917.1:c.1357C>T RettBASE substitution exon 1 RettBASE_c.1358G>A AJ132917.1:c.1358G>A RettBASE substitution exon 1 RettBASE_c.1364_1365insC AJ132917.1:c.1364_1365insC RettBASE insertion exon 1 RettBASE_c.1372C>T AJ132917.1:c.1372C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.1382A>G NM_003159:c.1382A>G RettBASE substitution exon 1 RettBASE_c.1396-?_1397+?del AJ132917.1:c.1396-?_1397+?del RettBASE deletion not within known transcription unit 0 RettBASE_CDKL5:c.1400A>C NM_003159:c.1400A>C RettBASE substitution exon 1 RettBASE_c.1403_1408del6 AJ132917.1:c.1403_1408del6 RettBASE deletion exon 1 RettBASE_c.1404G>A AJ132917.1:c.1404G>A RettBASE substitution exon 1 RettBASE_c.1415_1416delAG AJ132917.1:c.1415_1416delAG RettBASE deletion exon 1 RettBASE_c.1436C>T AJ132917.1:c.1436C>T RettBASE substitution exon 1 RettBASE_c.1438C>T AJ132917.1:c.1438C>T RettBASE substitution exon 1 RettBASE_c.1441G>A AJ132917.1:c.1441G>A RettBASE substitution exon 1 RettBASE_c.1446C>T AJ132917.1:c.1446C>T RettBASE substitution exon 1 RettBASE_c.1450_*12del24 AJ132917.1:c.1450_*12del24 RettBASE deletion not within known transcription unit 1 RettBASE_c.1450_1453delAGAG AJ132917.1:c.1450_1453delAGAG RettBASE deletion exon 1 RettBASE_c.1452_1453dup AJ132917.1:c.1452_1453dup RettBASE duplication exon 1 RettBASE_c.1454_1457del4 AJ132917.1:c.1454_1457del4 RettBASE deletion exon 1 RettBASE_c.1455_1456dupTA AJ132917.1:c.1455_1456dupTA RettBASE duplication exon 1 RettBASE_c.1461A>C AJ132917.1:c.1461A>C RettBASE substitution exon 1 RettBASE_c.1461A>G AJ132917.1:c.1461A>G RettBASE substitution exon 1 RettBASE_CDKL5:c.1523T>C NM_003159:c.1523T>C RettBASE substitution exon 1 RettBASE_CDKL5:c.1648C>T NM_003159:c.1648C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.1675C>T NM_003159:c.1675C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.1708G>T NM_003159:c.1708G>T RettBASE substitution exon 1 RettBASE_CDKL5:c.1767C>T NM_003159:c.1767C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.1892_1893dupTA NM_003159:c.1892_1893dupTA RettBASE duplication exon 1 RettBASE_CDKL5:c.1892T>C NM_003159:c.1892T>C RettBASE substitution exon 1 RettBASE_CDKL5:c.1954C>T NM_003159:c.1954C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2016delC NM_003159:c.2016delC RettBASE deletion exon 1 RettBASE_CDKL5:c.2016dupC NM_003159:c.2016dupC RettBASE duplication exon 1 RettBASE_CDKL5:c.2045_2046delAGins18 NM_003159:c.2045_2046delAGins18 RettBASE complex exon 1 RettBASE_CDKL5:c.2046+79G>A NM_003159:c.2046+79G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.2047-1G>A NM_003159:c.2047-1G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.2066delC NM_003159:c.2066delC RettBASE deletion exon 1 RettBASE_CDKL5:c.2152+48C>T NM_003159:c.2152+48C>T RettBASE substitution intron 1 RettBASE_CDKL5:c.2152G>A NM_003159:c.2152G>A RettBASE substitution exon 1 RettBASE_CDKL5:c.2325_2326delGA NM_003159:c.2325_2326delGA RettBASE deletion exon 1 RettBASE_CDKL5:c.2343delG NM_003159:c.2343delG RettBASE deletion exon 1 RettBASE_CDKL5:c.2363_2367delAGAAA NM_003159:c.2363_2367delAGAAA RettBASE deletion exon 1 RettBASE_CDKL5:c.2372A>C NM_003159:c.2372A>C RettBASE substitution exon 1 RettBASE_CDKL5:c.2376+1G>C NM_003159:c.2376+1G>C RettBASE substitution intron 1 RettBASE_CDKL5:c.2376+118T>A NM_003159:c.2376+118T>A RettBASE substitution intron 1 RettBASE_CDKL5:c.2376+1G>A NM_003159:c.2376+1G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.2376+5G>A NM_003159:c.2376+5G>A RettBASE substitution intron 1 RettBASE_CDKL5:c.2377-31T>C NM_003159:c.2377-31T>C RettBASE substitution intron 1 RettBASE_CDKL5:c.2378T>C NM_003159:c.2378T>C RettBASE substitution exon 1 RettBASE_CDKL5:c.2413C>T NM_003159:c.2413C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2500C>T NM_003159:c.2500C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2504delC NM_003159:c.2504delC RettBASE deletion exon 1 RettBASE_CDKL5:c.2529delA NM_003159:c.2529delA RettBASE deletion exon 1 RettBASE_CDKL5:c.2572delC NM_003159:c.2572delC RettBASE deletion exon 1 RettBASE_CDKL5:c.2593C>T NM_003159:c.2593C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2635_2636delCT NM_003159:c.2635_2636delCT RettBASE deletion exon 1 RettBASE_CDKL5:c.2767C>T NM_003159:c.2767C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2854C>T NM_003159:c.2854C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2908C>T NM_003159:c.2908C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.2984T>G NM_003159:c.2984T>G RettBASE substitution exon 1 RettBASE_CDKL5:c.2995G>A NM_003159:c.2995G>A RettBASE substitution exon 1 RettBASE_CDKL5:c.3003C>T NM_003159:c.3003C>T RettBASE substitution exon 1 RettBASE_CDKL5:c.3012G>T NM_003159:c.3012G>T RettBASE substitution exon 1 RettBASE_CDKL5:c.3084G>A NM_003159:c.3084G>A RettBASE substitution exon 1 HbVar.1 HBA2:c.5T>G (or HBA1) HbVar substitution exon 1 HbVar.2 HBA2:c.8T>G (or HBA1) HbVar substitution exon 1 HbVar.3 HBA2:c.17C>A (or HBA1) HbVar substitution exon 1 HbVar.4 HBA2:c.16G>C (or HBA1) HbVar substitution exon 1 HbVar.5 HBA2:c.20A>C (or HBA1) HbVar substitution exon 1 HbVar.6 HBA2:c.19G>A (or HBA1) HbVar substitution exon 1 HbVar.7 HBA2:c.20A>T (or HBA1) HbVar substitution exon 1 HbVar.8 HBA2:c.19G>T (or HBA1) HbVar substitution exon 1 HbVar.9 HBA2:c.20A>G (or HBA1) HbVar substitution exon 1 HbVar.10 HBA2:c.24G>C (or HBA1) HbVar substitution exon 1 HbVar.11 HBA2:c.22A>G (or HBA1) HbVar substitution exon 1 HbVar.12 HBA2:p.Lys12Glu (or HBA1) HbVar substitution exon 1 HbVar.13 HBA2:c.34A>C (or HBA1) HbVar substitution exon 1 HbVar.14 HBA2:c.[36G>C (or HBA1) or 36G>T (or HBA1)] HbVar substitution exon 1 HbVar.15 HBA2:c.38C>A (or HBA1) HbVar substitution exon 1 HbVar.16 HBA2:c.[43T>A (or HBA1) or 43T>C (or HBA1)] HbVar substitution exon 1 HbVar.17 HBA1:c.47G>A HbVar substitution exon 1 HbVar.18 HBA2:c.46G>C (or HBA1) HbVar substitution exon 1 HbVar.19 HBA2:c.49A>G HbVar substitution exon 1 HbVar.20 HBA2:c.[51G>C (or HBA1) or 51G>T (or HBA1)] HbVar substitution exon 1 HbVar.21 HBA2:c.50A>T (or HBA1) HbVar substitution exon 1 HbVar.22 HBA2:c.55G>C (or HBA1) HbVar substitution exon 1 HbVar.23 HBA2:c.56G>A (or HBA1) HbVar substitution exon 1 HbVar.24 HBA2:p.Ala20Asp (or HBA1) HbVar substitution exon 1 HbVar.25 HBA2:c.59C>A (or HBA1) HbVar substitution exon 1 HbVar.26 HBA2:c.61C>T (or HBA1) HbVar substitution exon 1 HbVar.27 HBA2:c.63C>A HbVar substitution exon 1 HbVar.28 HBA2:c.62A>G (or HBA1) HbVar substitution exon 1 HbVar.29 HBA2:c.65C>A (or HBA1) HbVar substitution exon 1 HbVar.30 HBA2:c.64G>C (or HBA1) HbVar substitution exon 1 HbVar.31 HBA2:c.68G>A (or HBA1) HbVar substitution exon 1 HbVar.32 HBA2:c.70G>C (or HBA1) HbVar substitution exon 1 HbVar.33 HBA2:c.70G>A (or HBA1) HbVar substitution exon 1 HbVar.34 HBA2:c.71A>T (or HBA1) HbVar substitution exon 1 HbVar.35 HBA2:c.71A>G (or HBA1) HbVar substitution exon 1 HbVar.36 HBA2:c.72G>T (or HBA1) HbVar substitution exon 1 HbVar.37 HBA2:c.73T>C (or HBA1) HbVar substitution exon 1 HbVar.38 HBA1:c.74A>G HbVar substitution exon 1 HbVar.39 HBA2:c.80C>A (or HBA1) HbVar substitution exon 1 HbVar.40 HBA2:c.79G>A HbVar substitution exon 1 HbVar.41 HBA2:c.83A>G (or HBA1) HbVar substitution exon 1 HbVar.42 HBA2:c.83A>T (or HBA1) HbVar substitution exon 1 HbVar.43 HBA2:c.82G>A (or HBA1) HbVar substitution exon 1 HbVar.44 HBA2:c.84G>C HbVar substitution exon 1 HbVar.45 HBA2:c.89T>C HbVar substitution exon 1 HbVar.46 HBA2:c.91G>A (or HBA1) HbVar substitution exon 1 HbVar.47 HBA2:c.91G>C (or HBA1) HbVar substitution exon 1 HbVar.48 HBA2:c.[96G>C (or HBA1) or 96G>T (or HBA1)] HbVar substitution exon 1 HbVar.49 HBA2:c.104T>G (or HBA1) HbVar substitution exon 1 HbVar.50 HBA2:c.107C>A HbVar substitution exon 1 HbVar.51 HBA2:c.113C>G (or HBA1) HbVar substitution exon 1 HbVar.52 HBA2:c.121A>G (or HBA1) HbVar substitution exon 1 HbVar.53 HBA2:c.122A>T HbVar substitution exon 1 HbVar.54 HBA2:c.[124A>T (or HBA1) or 125C>G (or HBA1)] HbVar substitution exon 1 HbVar.55 HBA2:c.130T>G (or HBA1) HbVar substitution exon 1 HbVar.56 HBA2:c.132C>G HbVar substitution exon 1 HbVar.57 HBA2:c.134C>T (or HBA1) HbVar substitution exon 1 HbVar.58 HBA2:c.134C>G (or HBA1) HbVar substitution exon 1 HbVar.59 HBA2:c.137A>G (or HBA1) HbVar substitution exon 1 HbVar.60 HBA2:c.138C>G (or HBA1) HbVar substitution exon 1 HbVar.61 HBA2:c.136C>G (or HBA1) HbVar substitution exon 1 HbVar.62 HBA2:c.137A>C HbVar substitution exon 1 HbVar.63 HBA2:c.136C>T (or HBA1) HbVar substitution exon 1 HbVar.64 HBA2:c.143A>G (or HBA1) HbVar substitution exon 1 HbVar.65 HBA2:c.142G>C HbVar substitution exon 1 HbVar.66 HBA2:c.142G>A (or HBA1) HbVar substitution exon 1 HbVar.67 HBA2:c.143A>C (or HBA1) HbVar substitution exon 1 HbVar.68 HBA2:c.142G>T HbVar substitution exon 1 HbVar.69 HBA2:c.146T>G HbVar substitution exon 1 HbVar.70 HBA2:c.150C>A HbVar substitution exon 1 HbVar.71 HBA2:c.151C>G HbVar substitution exon 1 HbVar.72 HBA2:c.152A>G (or HBA1) HbVar substitution exon 1 HbVar.73 HBA2:c.153C>A (or HBA1) or 153C>G (or HBA2) HbVar substitution exon 1 HbVar.74 HBA2:c.155G>A (or HBA1) HbVar substitution exon 1 HbVar.75 HBA2:c.154G>C (or HBA1) HbVar substitution exon 1 HbVar.76 HBA2:c.161C>A (or HBA1) HbVar substitution exon 1 HbVar.77 HBA2:c.164A>G (or HBA1) HbVar substitution exon 1 HbVar.78 HBA2:c.163C>G (or HBA1) HbVar substitution exon 1 HbVar.79 HBA2:c.170A>C (or HBA1) HbVar substitution exon 1 HbVar.80 HBA2:c.169A>G (or HBA1) HbVar substitution exon 1 HbVar.81 HBA2:c.[171G>T (or HBA1) or 171G>C (or HBA1)] HbVar substitution exon 1 HbVar.82 HBA2:c.170A>G (or HBA1) HbVar substitution exon 1 HbVar.83 HBA2:c.172G>C (or HBA1) HbVar substitution exon 1 HbVar.84 HBA2:c.173G>A (or HBA1) HbVar substitution exon 1 HbVar.85 HBA2:c.175C>T (or HBA1) HbVar substitution exon 1 HbVar.86 HBA2:c.179G>T (or HBA1) HbVar substitution exon 1 HbVar.87 HBA2:c.179G>A (or HBA1) HbVar substitution exon 1 HbVar.88 HBA2:c.[183G>C (or HBA1) or 183G>T (or HBA1)] HbVar substitution exon 1 HbVar.89 HBA2:c.181A>G (or HBA1) HbVar substitution exon 1 HbVar.90 HBA2:c.[186G>C (or HBA1) or 186G>T (or HBA1)] HbVar substitution exon 1 HbVar.91 HBA2:c.185A>C HbVar substitution exon 1 HbVar.92 HBA2:c.184A>G (or HBA1) HbVar substitution exon 1 HbVar.93 HBA2:c.187G>A HbVar substitution exon 1 HbVar.94 HBA2:c.191C>A (or HBA1) HbVar substitution exon 1 HbVar.95 HBA2:c.193G>A HbVar substitution exon 1 HbVar.96 HBA2:c.193G>T (or HBA1) HbVar substitution exon 1 HbVar.97 HBA1:c.193G>C HbVar substitution exon 1 HbVar.98 HBA2:c.194A>G (or HBA1) HbVar substitution exon 1 HbVar.99 HBA2:c.197C>T (or HBA1) HbVar substitution exon 1 HbVar.100 HBA2:c.[207C>G (or HBA1) or 207C>A] HbVar substitution exon 1 HbVar.101 HBA2:c.205A>G (or HBA1) HbVar substitution exon 1 HbVar.102 HBA2:c.215C>A (or HBA1) HbVar substitution exon 1 HbVar.103 HBA2:c.215C>T (or HBA1) HbVar substitution exon 1 HbVar.104 HBA2:c.218A>G (or HBA1) HbVar substitution exon 1 HbVar.105 HBA2:c.219C>A HbVar substitution exon 1 HbVar.106 HBA2:c.217C>T (or HBA1) HbVar substitution exon 1 HbVar.107 HBA1:c.223G>C HbVar substitution exon 1 HbVar.108 HBA2:c.224A>C (or HBA1) HbVar substitution exon 1 HbVar.109 HBA2:c.223G>A (or HBA1) HbVar substitution exon 1 HbVar.110 HBA1:c.224A>G HbVar substitution exon 1 HbVar.111 HBA2:c.226G>C (or HBA1) HbVar substitution exon 1 HbVar.112 HBA1:c.227A>C HbVar substitution exon 1 HbVar.113 HBA2:c.226G>T (or HBA1) HbVar substitution exon 1 HbVar.114 HBA2:c.226G>A (or HBA1) HbVar substitution exon 1 HbVar.115 HBA2:c.227A>G (or HBA1) HbVar substitution exon 1 HbVar.116 HBA2:c.230T>A (or HBA1) HbVar substitution exon 1 HbVar.117 HBA2:c.230T>C (or HBA1) HbVar substitution exon 1 HbVar.118 HBA2:c.233C>G (or HBA1) HbVar substitution exon 1 HbVar.119 HBA2:c.237C>G (or HBA1) HbVar substitution exon 1 HbVar.120 HBA2:c.235A>G (or HBA1) HbVar substitution exon 1 HbVar.121 HBA1:c.235A>C HbVar substitution exon 1 HbVar.122 HBA2:c.238G>A (or HBA1) HbVar substitution exon 1 HbVar.123 HBA2:c.242T>G (or HBA1) HbVar substitution exon 1 HbVar.124 HBA2:c.241C>G HbVar substitution exon 1 HbVar.125 HBA2:c.245C>G (or HBA1) HbVar substitution exon 1 HbVar.126 HBA2:c.248C>A (or HBA1) HbVar substitution exon 1 HbVar.127 HBA2:c.251T>C HbVar substitution exon 1 HbVar.128 HBA2:c.[255C>G (or HBA1) or 253A>C (or HBA1) or 255C>A (or HBA1)] HbVar substitution exon 1 HbVar.129 HBA2:c.256G>A (or HBA1) HbVar substitution exon 1 HbVar.130 HBA2:c.256G>T (or HBA1) HbVar substitution exon 1 HbVar.131 HBA2:c.257A>T HbVar substitution exon 1 HbVar.132 HBA2:c.260T>G (or HBA1) HbVar substitution exon 1 HbVar.133 HBA2:c.263A>G (or HBA1) HbVar substitution exon 1 HbVar.134 HBA2:c.262C>T (or HBA1) HbVar substitution exon 1 HbVar.135 HBA2:c.262C>A (or HBA1) HbVar substitution exon 1 HbVar.136 HBA2:c.265G>T (or HBA1) HbVar substitution exon 1 HbVar.137 HBA2:c.266C>T (or HBA1) HbVar substitution exon 1 HbVar.138 HBA2:c.266C>G (or HBA1) HbVar substitution exon 1 HbVar.139 HBA2:c.269A>T (or HBA1) HbVar substitution exon 1 HbVar.140 HBA2:c.268C>T (or HBA1) HbVar substitution exon 1 HbVar.141 HBA2:c.269A>C (or HBA1) HbVar substitution exon 1 HbVar.142 HBA2:c.273G>T or HBA1:c.273G>C HbVar substitution exon 1 HbVar.143 HBA1:c.272A>C HbVar substitution exon 1 HbVar.144 HBA2:c.272A>T (or HBA1) HbVar substitution exon 1 HbVar.145 HBA2:c.275T>C (or HBA1) HbVar substitution exon 1 HbVar.146 HBA2:c.278G>A (or HBA1) HbVar substitution exon 1 HbVar.147 HBA2:c.277C>T (or HBA1) HbVar substitution exon 1 HbVar.148 HBA2:c.278G>T (or HBA1) HbVar substitution exon 1 HbVar.149 HBA2:c.278G>C HbVar substitution exon 1 HbVar.150 HBA2:c.281T>G HbVar substitution exon 1 HbVar.151 HBA2:c.283G>A (or HBA1) HbVar substitution exon 1 HbVar.152 HBA2:c.283G>T HbVar substitution exon 1 HbVar.153 HBA2:c.283G>C HbVar substitution exon 1 HbVar.154 HBA1:c.284A>G HbVar substitution exon 1 HbVar.155 HBA2:c.285C>G (or HBA1) HbVar substitution exon 1 HbVar.156 HBA2:c.284A>C (or HBA1) HbVar substitution exon 1 HbVar.157 HBA2:c.287C>T HbVar substitution exon 1 HbVar.158 HBA2:c.286C>T (or HBA1) HbVar substitution exon 1 HbVar.159 HBA2:c.286C>G (or HBA1) HbVar substitution exon 1 HbVar.160 HBA1:c.287C>G HbVar substitution exon 1 HbVar.161 HBA2:c.286C>A (or HBA1) HbVar substitution exon 1 HbVar.162 HBA2:c.294C>A HbVar substitution exon 1 HbVar.163 HBA2:c.292A>C HbVar substitution exon 1 HbVar.164 HBA2:c.298A>G (or HBA1) HbVar substitution exon 1 HbVar.165 HBA2:c.307A>C HbVar substitution exon 1 HbVar.166 HBA2:c.311A>G (or HBA1) HbVar substitution exon 1 HbVar.167 HBA2:c.314G>A HbVar substitution exon 1 HbVar.168 HBA2:c.329T>G HbVar substitution exon 1 HbVar.169 HBA2:c.332C>A (or HBA1) HbVar substitution exon 1 HbVar.170 HBA2:c.331G>A (or HBA1) HbVar substitution exon 1 HbVar.171 HBA2:c.335C>T HbVar substitution exon 1 HbVar.172 HBA2:c.334G>A (or HBA1) HbVar substitution exon 1 HbVar.173 HBA2:c.337C>G (or HBA1) HbVar substitution exon 1 HbVar.174 HBA2:c.338A>G (or HBA1) HbVar substitution exon 1 HbVar.175 HBA2:c.341T>A (or HBA1) HbVar substitution exon 1 HbVar.176 HBA2:c.344C>G (or HBA1) HbVar substitution exon 1 HbVar.177 HBA2:c.344C>T (or HBA1) HbVar substitution exon 1 HbVar.178 HBA2:c.343C>T (or HBA1) HbVar substitution exon 1 HbVar.179 HBA2:c.347C>A (or HBA1) HbVar substitution exon 1 HbVar.180 HBA1:c.349G>A HbVar substitution exon 1 HbVar.181 HBA2:c.350A>C (or HBA1) HbVar substitution exon 1 HbVar.182 HBA2:c.349G>C (or HBA1) HbVar substitution exon 1 HbVar.183 HBA2:c.362C>A (or HBA1) HbVar substitution exon 1 HbVar.184 HBA2:c.364G>A (or HBA1) HbVar substitution exon 1 HbVar.185 HBA2:c.369C>G HbVar substitution exon 1 HbVar.186 HBA1:c.370G>T HbVar substitution exon 1 HbVar.187 HBA2:c.377T>C HbVar substitution exon 1 HbVar.188 HBA2:c.379G>A (or HBA1) HbVar substitution exon 1 HbVar.189 HBA1:c.379G>C HbVar substitution exon 1 HbVar.190 HBA2:c.380A>T (or HBA1) HbVar substitution exon 1 HbVar.191 HBA2:c.379G>T (or HBA1) HbVar substitution exon 1 HbVar.192 HBA2:c.380A>G (or HBA1) HbVar substitution exon 1 HbVar.193 HBA2:c.383A>C (or HBA1) HbVar substitution exon 1 HbVar.194 HBA2:c.[384G>T (or HBA1) or 384G>C (or HBA1)] HbVar substitution exon 1 HbVar.195 HBA1:c.389T>C HbVar substitution exon 1 HbVar.196 HBA2:c.389T>C HbVar substitution exon 1 HbVar.197 HBA2:c.391G>C HbVar substitution exon 1 HbVar.198 HBA2:c.392C>A HbVar substitution exon 1 HbVar.199 HBA2:c.394T>C (or HBA1) HbVar substitution exon 1 HbVar.200 HBA2:c.398T>G (or HBA1) HbVar substitution exon 1 HbVar.201 HBA2:p.Ser134Arg (or HBA1) HbVar substitution exon 1 HbVar.202 HBA2:c.401G>A (or HBA1) HbVar substitution exon 1 HbVar.203 HBA2:c.407T>A (or HBA1) HbVar substitution exon 1 HbVar.204 HBA2:c.410T>C HbVar substitution exon 1 HbVar.205 HBA2:c.410T>G (or HBA1) HbVar substitution exon 1 HbVar.206 HBA2:c.409C>A HbVar substitution exon 1 HbVar.207 HBA2:c.415T>C (or HBA1) HbVar substitution exon 1 HbVar.208 HBA2:c.419A>C (or HBA1) HbVar substitution exon 1 HbVar.209 HBA1:c.418A>G HbVar substitution exon 1 HbVar.210 HBA2:c.421T>C (or HBA1) HbVar substitution exon 1 HbVar.211 HBA2:c.425G>C (or HBA1) HbVar substitution exon 1 HbVar.212 HBA2:c.425G>A (or HBA1) HbVar substitution exon 1 HbVar.213 HBA2:c.424C>A (or HBA1) HbVar substitution exon 1 HbVar.214 HBA2:c.425G>T (or HBA1) HbVar substitution exon 1 HbVar.215 HBA2:c.424C>G (or HBA1) HbVar substitution exon 1 HbVar.216 HBA2:c.424C>T (or HBA1) HbVar substitution exon 1 HbVar.217 HBB:c.5T>C HbVar substitution exon 1 HbVar.218 HBB:c.4G>T HbVar substitution exon 1 HbVar.219 HBB:c.8A>G HbVar substitution exon 1 HbVar.220 HBB:c.[9T>A or 9T>G] HbVar substitution exon 1 HbVar.221 HBB:c.7C>T HbVar substitution exon 1 HbVar.222 HBB:c.8A>T HbVar substitution exon 1 HbVar.223 HBB:c.8A>C HbVar substitution exon 1 HbVar.224 HBB:c.17C>G HbVar substitution exon 1 HbVar.225 HBB:c.16C>T HbVar substitution exon 1 HbVar.226 HBB:c.20A>T HbVar substitution exon 1 HbVar.227 HBB:c.19G>A HbVar substitution exon 1 HbVar.228 HBB:c.20A>C HbVar substitution exon 1 HbVar.229 HBB:c.19G>C HbVar substitution exon 1 HbVar.230 HBB:c.23A>G HbVar substitution exon 1 HbVar.231 HBB:c.22G>A HbVar substitution exon 1 HbVar.232 HBB:c.26A>C HbVar substitution exon 1 HbVar.233 HBB:c.25A>C HbVar substitution exon 1 HbVar.234 HBB:c.25A>G HbVar substitution exon 1 HbVar.235 HBB:c.26A>T HbVar substitution exon 1 HbVar.236 HBB:c.29C>G HbVar substitution exon 1 HbVar.237 HBB:c.32C>A HbVar substitution exon 1 HbVar.238 HBB:c.32C>T HbVar substitution exon 1 HbVar.239 HBB:c.34G>A HbVar substitution exon 1 HbVar.240 HBB:c.35T>A HbVar substitution exon 1 HbVar.241 HBB:c.34G>T HbVar substitution exon 1 HbVar.242 HBB:c.41C>A HbVar substitution exon 1 HbVar.243 HBB:c.44T>G HbVar substitution exon 1 HbVar.244 HBB:c.44T>C HbVar substitution exon 1 HbVar.245 HBB:c.[46T>A or 46T>C] HbVar substitution exon 1 HbVar.246 HBB:c.46T>G HbVar substitution exon 1 HbVar.247 HBB:c.50G>A HbVar substitution exon 1 HbVar.248 HBB:c.49G>C HbVar substitution exon 1 HbVar.249 HBB:c.52A>G HbVar substitution exon 1 HbVar.250 HBB:c.[54G>C or 54G>T] HbVar substitution exon 1 HbVar.251 HBB:c.52A>C HbVar substitution exon 1 HbVar.252 HBB:c.55G>A HbVar substitution exon 1 HbVar.253 HBB:c.56T>G HbVar substitution exon 1 HbVar.254 HBB:c.[60C>A or 60C>G] HbVar substitution exon 1 HbVar.255 HBB:c.58A>G HbVar substitution exon 1 HbVar.256 HBB:c.59A>G HbVar substitution exon 1 HbVar.257 HBB:c.61G>A HbVar substitution exon 1 HbVar.258 HBB:c.62T>A HbVar substitution exon 1 HbVar.259 HBB:c.62T>G HbVar substitution exon 1 HbVar.260 HBB:c.64G>T HbVar substitution exon 1 HbVar.261 HBB:c.65A>G HbVar substitution exon 1 HbVar.262 HBB:c.64G>A HbVar substitution exon 1 HbVar.263 HBB:c.64G>C HbVar substitution exon 1 HbVar.264 HBB:c.67G>A HbVar substitution exon 1 HbVar.265 HBB:c.68A>G HbVar substitution exon 1 HbVar.266 HBB:c.68A>C HbVar substitution exon 1 HbVar.267 HBB:c.67G>C HbVar substitution exon 1 HbVar.268 HBB:c.68A>T HbVar substitution exon 1 HbVar.269 HBB:c.71T>A HbVar substitution exon 1 HbVar.270 HBB:c.71T>G HbVar substitution exon 1 HbVar.271 HBB:c.70G>T HbVar substitution exon 1 HbVar.272 HBB:c.73G>C HbVar substitution exon 1 HbVar.273 HBB:c.74G>T HbVar substitution exon 1 HbVar.274 HBB:c.74G>A HbVar substitution exon 1 HbVar.275 HBB:c.76G>C HbVar substitution exon 1 HbVar.276 HBB:c.77G>A HbVar substitution exon 1 HbVar.277 HBB:c.79G>A HbVar substitution exon 1 HbVar.278 HBB:c.80A>T HbVar substitution exon 1 HbVar.279 HBB:c.80A>G HbVar substitution exon 1 HbVar.280 HBB:c.83C>A HbVar substitution exon 1 HbVar.281 HBB:c.82G>T HbVar substitution exon 1 HbVar.282 HBB:c.83C>T HbVar substitution exon 1 HbVar.283 HBB:c.83C>G HbVar substitution exon 1 HbVar.284 HBB:c.86T>A HbVar substitution exon 1 HbVar.285 HBB:c.86T>C HbVar substitution exon 1 HbVar.286 HBB:c.86T>G HbVar substitution exon 1 HbVar.287 HBB:c.85C>A HbVar substitution exon 1 HbVar.288 HBB:c.89G>A HbVar substitution exon 1 HbVar.289 HBB:c.93G>T HbVar substitution exon 1 HbVar.290 HBB:c.92G>C HbVar substitution exon 1 HbVar.291 HBB:c.95T>C HbVar substitution exon 1 HbVar.292 HBB:c.95T>G HbVar substitution exon 1 HbVar.293 HBB:c.98T>C HbVar substitution exon 1 HbVar.294 HBB:c.98T>G HbVar substitution exon 1 HbVar.295 HBB:c.97C>G HbVar substitution exon 1 HbVar.296 HBB:c.103G>T HbVar substitution exon 1 HbVar.297 HBB:c.107A>T HbVar substitution exon 1 HbVar.298 HBB:c.109C>A HbVar substitution exon 1 HbVar.299 HBB:c.109C>T HbVar substitution exon 1 HbVar.300 HBB:c.110C>G HbVar substitution exon 1 HbVar.301 HBB:c.110C>A HbVar substitution exon 1 HbVar.302 HBB:c.113G>C HbVar substitution exon 1 HbVar.303 HBB:c.[112T>A or 112T>C] HbVar substitution exon 1 HbVar.304 HBB:c.112T>G HbVar substitution exon 1 HbVar.305 HBB:c.115A>C HbVar substitution exon 1 HbVar.306 HBB:c.116C>A HbVar substitution exon 1 HbVar.307 HBB:c.118C>A HbVar substitution exon 1 HbVar.308 HBB:c.118C>G HbVar substitution exon 1 HbVar.309 HBB:c.119A>G HbVar substitution exon 1 HbVar.310 HBB:c.122G>A HbVar substitution exon 1 HbVar.311 HBB:c.[123G>C or 123G>T] HbVar substitution exon 1 HbVar.312 HBB:c.125T>A HbVar substitution exon 1 HbVar.313 HBB:c.125T>C HbVar substitution exon 1 HbVar.314 HBB:c.128T>C HbVar substitution exon 1 HbVar.315 HBB:c.127T>C HbVar substitution exon 1 HbVar.316 HBB:c.127T>G HbVar substitution exon 1 HbVar.317 HBB:c.131A>C HbVar substitution exon 1 HbVar.318 HBB:c.130G>C HbVar substitution exon 1 HbVar.319 HBB:c.134C>G HbVar substitution exon 1 HbVar.320 HBB:c.137T>C HbVar substitution exon 1 HbVar.321 HBB:c.137T>G HbVar substitution exon 1 HbVar.322 HBB:c.140G>A HbVar substitution exon 1 HbVar.323 HBB:c.139G>A HbVar substitution exon 1 HbVar.324 HBB:c.142G>A HbVar substitution exon 1 HbVar.325 HBB:c.143A>G HbVar substitution exon 1 HbVar.326 HBB:c.143A>C HbVar substitution exon 1 HbVar.327 HBB:c.142G>T HbVar substitution exon 1 HbVar.328 HBB:c.146T>G HbVar substitution exon 1 HbVar.329 HBB:c.146T>C HbVar substitution exon 1 HbVar.330 HBB:c.149C>T HbVar substitution exon 1 HbVar.331 HBB:p.Thr51Lys HbVar substitution exon 1 HbVar.332 HBB:c.155C>G HbVar substitution exon 1 HbVar.333 HBB:c.155C>A HbVar substitution exon 1 HbVar.334 HBB:c.157G>A HbVar substitution exon 1 HbVar.335 HBB:c.158A>C HbVar substitution exon 1 HbVar.336 HBB:c.157G>C HbVar substitution exon 1 HbVar.337 HBB:c.158A>G HbVar substitution exon 1 HbVar.338 HBB:c.158A>T HbVar substitution exon 1 HbVar.339 HBB:c.160G>A HbVar substitution exon 1 HbVar.340 HBB:c.164T>A HbVar substitution exon 1 HbVar.341 HBB:c.167T>A HbVar substitution exon 1 HbVar.342 HBB:c.170G>A HbVar substitution exon 1 HbVar.343 HBB:c.169G>C HbVar substitution exon 1 HbVar.344 HBB:c.[174C>A or 174C>G] HbVar substitution exon 1 HbVar.345 HBB:c.172A>G HbVar substitution exon 1 HbVar.346 HBB:c.176C>G HbVar substitution exon 1 HbVar.347 HBB:c.178A>G HbVar substitution exon 1 HbVar.348 HBB:c.179A>C HbVar substitution exon 1 HbVar.350 HBB:c.181G>C HbVar substitution exon 1 HbVar.351 HBB:c.182T>C HbVar substitution exon 1 HbVar.352 HBB:c.182T>A HbVar substitution exon 1 HbVar.353 HBB:c.184A>G HbVar substitution exon 1 HbVar.354 HBB:c.[186G>C or 186G>T] HbVar substitution exon 1 HbVar.355 HBB:c.185A>T HbVar substitution exon 1 HbVar.356 HBB:c.187G>C HbVar substitution exon 1 HbVar.357 HBB:c.188C>A HbVar substitution exon 1 HbVar.358 HBB:c.191A>G HbVar substitution exon 1 HbVar.359 HBB:c.190C>T HbVar substitution exon 1 HbVar.360 HBB:c.191A>C HbVar substitution exon 1 HbVar.361 HBB:c.190C>A HbVar substitution exon 1 HbVar.362 HBB:c.194G>A HbVar substitution exon 1 HbVar.363 HBB:c.[198G>C or 198G>T] HbVar substitution exon 1 HbVar.364 HBB:c.196A>C HbVar substitution exon 1 HbVar.365 HBB:c.197A>T HbVar substitution exon 1 HbVar.366 HBB:c.199A>G HbVar substitution exon 1 HbVar.367 HBB:c.200A>C HbVar substitution exon 1 HbVar.368 HBB:c.203T>A HbVar substitution exon 1 HbVar.369 HBB:p.[Val68Met or Val68Asp] HbVar substitution exon 1 HbVar.370 HBB:c.202G>A HbVar substitution exon 1 HbVar.371 HBB:c.203T>C HbVar substitution exon 1 HbVar.372 HBB:c.203T>G HbVar substitution exon 1 HbVar.373 HBB:c.206T>C HbVar substitution exon 1 HbVar.374 HBB:c.206T>A HbVar substitution exon 1 HbVar.375 HBB:c.205C>T HbVar substitution exon 1 HbVar.376 HBB:c.209G>A HbVar substitution exon 1 HbVar.377 HBB:c.208G>A HbVar substitution exon 1 HbVar.378 HBB:c.208G>C HbVar substitution exon 1 HbVar.379 HBB:c.212C>A HbVar substitution exon 1 HbVar.380 HBB:c.215T>C HbVar substitution exon 1 HbVar.381 HBB:c.219T>A HbVar substitution exon 1 HbVar.382 HBB:c.220G>T HbVar substitution exon 1 HbVar.383 HBB:c.220G>A HbVar substitution exon 1 HbVar.384 HBB:c.221A>T HbVar substitution exon 1 HbVar.385 HBB:c.221A>G HbVar substitution exon 1 HbVar.386 HBB:c.224G>T HbVar substitution exon 1 HbVar.387 HBB:c.224G>A HbVar substitution exon 1 HbVar.388 HBB:c.223G>C HbVar substitution exon 1 HbVar.389 HBB:c.227T>C HbVar substitution exon 1 HbVar.390 HBB:c.227T>G HbVar substitution exon 1 HbVar.391 HBB:c.230C>A HbVar substitution exon 1 HbVar.392 HBB:c.229G>C HbVar substitution exon 1 HbVar.393 HBB:c.232C>G HbVar substitution exon 1 HbVar.394 HBB:c.232C>T HbVar substitution exon 1 HbVar.395 HBB:p.His78Arg HbVar substitution exon 1 HbVar.396 HBB:c.234C>G HbVar substitution exon 1 HbVar.397 HBB:c.236T>G HbVar substitution exon 1 HbVar.398 HBB:c.239A>G HbVar substitution exon 1 HbVar.399 HBB:c.238G>T HbVar substitution exon 1 HbVar.400 HBB:c.238G>C HbVar substitution exon 1 HbVar.401 HBB:c.238G>A HbVar substitution exon 1 HbVar.402 HBB:c.[243C>A or 243C>G] HbVar substitution exon 1 HbVar.403 HBB:c.245T>G HbVar substitution exon 1 HbVar.404 HBB:c.245T>A HbVar substitution exon 1 HbVar.405 HBB:c.[249G>T or 249G>C] HbVar substitution exon 1 HbVar.406 HBB:c.248A>C HbVar substitution exon 1 HbVar.407 HBB:c.248A>T HbVar substitution exon 1 HbVar.408 HBB:c.247A>C HbVar substitution exon 1 HbVar.409 HBB:c.247A>G HbVar substitution exon 1 HbVar.410 HBB:c.250G>T HbVar substitution exon 1 HbVar.411 HBB:c.251G>A HbVar substitution exon 1 HbVar.412 HBB:c.250G>C HbVar substitution exon 1 HbVar.413 HBB:c.254C>T HbVar substitution exon 1 HbVar.414 HBB:c.257T>C HbVar substitution exon 1 HbVar.415 HBB:c.260C>A HbVar substitution exon 1 HbVar.416 HBB:c.263C>A HbVar substitution exon 1 HbVar.417 HBB:c.262A>C HbVar substitution exon 1 HbVar.418 HBB:c.263C>T HbVar substitution exon 1 HbVar.419 HBB:c.266T>G HbVar substitution exon 1 HbVar.420 HBB:c.266T>C HbVar substitution exon 1 HbVar.421 HBB:c.269G>A HbVar substitution exon 1 HbVar.422 HBB:c.268A>C HbVar substitution exon 1 HbVar.423 HBB:c.269G>C HbVar substitution exon 1 HbVar.424 HBB:c.271G>A HbVar substitution exon 1 HbVar.425 HBB:c.272A>G HbVar substitution exon 1 HbVar.426 HBB:c.[273G>C or 273G>T] HbVar substitution exon 1 HbVar.427 HBB:c.275T>C HbVar substitution exon 1 HbVar.428 HBB:c.275T>G HbVar substitution exon 1 HbVar.429 HBB:c.278A>G HbVar substitution exon 1 HbVar.430 HBB:c.277C>T HbVar substitution exon 1 HbVar.431 HBB:c.278A>C HbVar substitution exon 1 HbVar.432 HBB:c.[279C>A or 279C>G] HbVar substitution exon 1 HbVar.433 HBB:c.277C>G HbVar substitution exon 1 HbVar.434 HBB:c.277C>A HbVar substitution exon 1 HbVar.435 HBB:c.280T>C HbVar substitution exon 1 HbVar.436 HBB:c.283G>C HbVar substitution exon 1 HbVar.437 HBB:c.283G>A HbVar substitution exon 1 HbVar.438 HBB:c.284A>G HbVar substitution exon 1 HbVar.439 HBB:c.286A>G HbVar substitution exon 1 HbVar.440 HBB:c.287A>T HbVar substitution exon 1 HbVar.441 HBB:c.[288G>C or 288G>T] HbVar substitution exon 1 HbVar.442 HBB:c.289C>G HbVar substitution exon 1 HbVar.443 HBB:c.290T>C HbVar substitution exon 1 HbVar.444 HBB:c.[294C>A or 294C>G] HbVar substitution exon 1 HbVar.445 HBB:c.293A>T HbVar substitution exon 1 HbVar.446 HBB:c.293A>C HbVar substitution exon 1 HbVar.447 HBB:c.292C>T HbVar substitution exon 1 HbVar.448 HBB:c.295G>A HbVar substitution exon 1 HbVar.449 HBB:c.296T>G HbVar substitution exon 1 HbVar.450 HBB:c.296T>C HbVar substitution exon 1 HbVar.451 HBB:c.296T>A HbVar substitution exon 1 HbVar.452 HBB:c.298G>A HbVar substitution exon 1 HbVar.453 HBB:c.298G>C HbVar substitution exon 1 HbVar.454 HBB:c.299A>C HbVar substitution exon 1 HbVar.455 HBB:c.298G>T HbVar substitution exon 1 HbVar.456 HBB:c.299A>G HbVar substitution exon 1 HbVar.457 HBB:c.299A>T HbVar substitution exon 1 HbVar.458 HBB:c.[300T>A or 300T>G] HbVar substitution exon 1 HbVar.459 HBB:c.302C>T HbVar substitution exon 1 HbVar.460 HBB:c.302C>G HbVar substitution exon 1 HbVar.461 HBB:c.304G>A HbVar substitution exon 1 HbVar.462 HBB:c.304G>C HbVar substitution exon 1 HbVar.463 HBB:c.305A>G HbVar substitution exon 1 HbVar.464 HBB:c.[306G>C or 306G>T] HbVar substitution exon 1 HbVar.465 HBB:c.[309C>A or 309C>G] HbVar substitution exon 1 HbVar.466 HBB:c.308A>C HbVar substitution exon 1 HbVar.467 HBB:c.308A>G HbVar substitution exon 1 HbVar.468 HBB:c.307A>T HbVar substitution exon 1 HbVar.469 HBB:c.312C>G HbVar substitution exon 1 HbVar.470 HBB:c.310T>A HbVar substitution exon 1 HbVar.471 HBB:c.[315G>C or 315G>T] HbVar substitution exon 1 HbVar.472 HBB:c.314G>C HbVar substitution exon 1 HbVar.473 HBB:c.314G>A HbVar substitution exon 1 HbVar.474 HBB:c.316C>T HbVar substitution exon 1 HbVar.475 HBB:c.320T>C HbVar substitution exon 1 HbVar.476 HBB:c.320T>A HbVar substitution exon 1 HbVar.477 HBB:c.320T>G HbVar substitution exon 1 HbVar.478 HBB:c.322G>C HbVar substitution exon 1 HbVar.479 HBB:c.323G>A HbVar substitution exon 1 HbVar.480 HBB:c.325A>G HbVar substitution exon 1 HbVar.481 HBB:c.[327C>A or 327C>G] HbVar substitution exon 1 HbVar.482 HBB:c.325A>C HbVar substitution exon 1 HbVar.483 HBB:c.328G>A HbVar substitution exon 1 HbVar.484 HBB:c.[328G>C or 328G>T] HbVar substitution exon 1 HbVar.485 HBB:c.332T>C HbVar substitution exon 1 HbVar.486 HBB:c.334G>T HbVar substitution exon 1 HbVar.487 HBB:c.335T>C HbVar substitution exon 1 HbVar.488 HBB:c.337T>C HbVar substitution exon 1 HbVar.489 HBB:c.338G>A HbVar substitution exon 1 HbVar.490 HBB:c.339T>G HbVar substitution exon 1 HbVar.491 HBB:c.341T>A HbVar substitution exon 1 HbVar.492 HBB:c.343C>A HbVar substitution exon 1 HbVar.493 HBB:c.344T>C HbVar substitution exon 1 HbVar.494 HBB:c.346G>C HbVar substitution exon 1 HbVar.495 HBB:c.347C>A HbVar substitution exon 1 HbVar.496 HBB:c.[351T>A or 351T>G] HbVar substitution exon 1 HbVar.497 HBB:c.353A>G HbVar substitution exon 1 HbVar.498 HBB:c.353A>C HbVar substitution exon 1 HbVar.499 HBB:c.352C>T HbVar substitution exon 1 HbVar.500 HBB:c.352C>A HbVar substitution exon 1 HbVar.501 HBB:c.356T>A HbVar substitution exon 1 HbVar.502 HBB:c.[334G>C;359G>A] HbVar substitution exon 1 HbVar.503 HBB:c.359G>T HbVar substitution exon 1 HbVar.504 HBB:c.359G>C HbVar substitution exon 1 HbVar.505 HBB:c.361A>G HbVar substitution exon 1 HbVar.506 HBB:c.363A>C HbVar substitution exon 1 HbVar.507 HBB:c.361A>C HbVar substitution exon 1 HbVar.508 HBB:c.362A>T HbVar substitution exon 1 HbVar.509 HBB:c.364G>C HbVar substitution exon 1 HbVar.510 HBB:c.364G>A HbVar substitution exon 1 HbVar.511 HBB:c.365A>G HbVar substitution exon 1 HbVar.512 HBB:c.365A>T HbVar substitution exon 1 HbVar.513 HBB:c.365A>C HbVar substitution exon 1 HbVar.514 HBB:c.371C>T HbVar substitution exon 1 HbVar.515 HBB:c.374C>G HbVar substitution exon 1 HbVar.516 HBB:c.374C>A HbVar substitution exon 1 HbVar.517 HBB:c.373C>T HbVar substitution exon 1 HbVar.518 HBB:c.374C>T HbVar substitution exon 1 HbVar.519 HBB:c.380T>A HbVar substitution exon 1 HbVar.520 HBB:c.380T>C HbVar substitution exon 1 HbVar.521 HBB:c.380T>G HbVar substitution exon 1 HbVar.522 HBB:c.382C>G HbVar substitution exon 1 HbVar.523 HBB:c.382C>A HbVar substitution exon 1 HbVar.524 HBB:c.383A>G HbVar substitution exon 1 HbVar.525 HBB:c.386C>A HbVar substitution exon 1 HbVar.526 HBB:c.385G>C HbVar substitution exon 1 HbVar.527 HBB:c.386C>T HbVar substitution exon 1 HbVar.528 HBB:c.389C>A HbVar substitution exon 1 HbVar.529 HBB:p.[Ala130Asp or Ala130Glu] HbVar substitution exon 1 HbVar.530 HBB:c.388G>C HbVar substitution exon 1 HbVar.531 HBB:c.389C>T HbVar substitution exon 1 HbVar.532 HBB:c.391T>G HbVar substitution exon 1 HbVar.533 HBB:c.392A>C HbVar substitution exon 1 HbVar.534 HBB:c.392A>G HbVar substitution exon 1 HbVar.535 HBB:c.394C>G HbVar substitution exon 1 HbVar.536 HBB:c.394C>A HbVar substitution exon 1 HbVar.537 HBB:c.395A>C HbVar substitution exon 1 HbVar.538 HBB:c.395A>G HbVar substitution exon 1 HbVar.539 HBB:c.396G>C HbVar substitution exon 1 HbVar.540 HBB:c.397A>C HbVar substitution exon 1 HbVar.541 HBB:c.[399A>C or 399A>T] HbVar substitution exon 1 HbVar.542 HBB:c.398A>C HbVar substitution exon 1 HbVar.543 HBB:c.397A>G HbVar substitution exon 1 HbVar.544 HBB:c.[400G>C ;193G>A] HbVar substitution exon 1 HbVar.545 HBB:c.404T>A HbVar substitution exon 1 HbVar.546 HBB:c.406G>C HbVar substitution exon 1 HbVar.547 HBB:c.407C>A HbVar substitution exon 1 HbVar.548 HBB:c.410G>A HbVar substitution exon 1 HbVar.549 HBB:c.410G>C HbVar substitution exon 1 HbVar.550 HBB:c.409G>A HbVar substitution exon 1 HbVar.551 HBB:c.415G>C HbVar substitution exon 1 HbVar.552 HBB:c.418A>G HbVar substitution exon 1 HbVar.553 HBB:c.[420T>C or 420T>A] HbVar substitution exon 1 HbVar.554 HBB:c.418A>T HbVar substitution exon 1 HbVar.555 HBB:c.421G>A HbVar substitution exon 1 HbVar.556 HBB:c.422C>A HbVar substitution exon 1 HbVar.557 HBB:c.422C>T HbVar substitution exon 1 HbVar.558 HBB:c.425T>G HbVar substitution exon 1 HbVar.559 HBB:c.428C>A HbVar substitution exon 1 HbVar.560 HBB:c.427G>C HbVar substitution exon 1 HbVar.561 HBB:c.430C>A HbVar substitution exon 1 HbVar.562 HBB:c.431A>G HbVar substitution exon 1 HbVar.563 HBB:c.[432C>A or 432C>G] HbVar substitution exon 1 HbVar.564 HBB:c.431A>C HbVar substitution exon 1 HbVar.565 HBB:c.430C>G HbVar substitution exon 1 HbVar.566 HBB:c.430C>T HbVar substitution exon 1 HbVar.567 HBB:c.[435G>T or 435G>C] HbVar substitution exon 1 HbVar.568 HBB:c.433A>G HbVar substitution exon 1 HbVar.569 HBB:c.434A>T HbVar substitution exon 1 HbVar.570 HBB:c.436T>C HbVar substitution exon 1 HbVar.571 HBB:c.437A>G HbVar substitution exon 1 HbVar.572 HBB:c.436T>A HbVar substitution exon 1 HbVar.573 HBB:c.436T>G HbVar substitution exon 1 HbVar.574 HBB:c.438T>A HbVar substitution exon 1 HbVar.575 HBB:c.439C>G HbVar substitution exon 1 HbVar.576 HBB:c.440A>C HbVar substitution exon 1 HbVar.577 HBB:c.440A>G HbVar substitution exon 1 HbVar.578 HBB:c.440A>T HbVar substitution exon 1 HbVar.579 HBB:c.441C>A HbVar substitution exon 1 HbVar.580 HBG2:c.4G>T HbVar substitution exon 1 HbVar.581 HBG2:c.17A>G HbVar substitution exon 1 HbVar.582 HBG2:c.22G>A HbVar substitution exon 1 HbVar.583 HBG2:c.[25A>C or 25A>G] HbVar substitution exon 1 HbVar.584 HBG2:c.38C>G HbVar substitution exon 1 HbVar.585 HBG2:c.46T>C HbVar substitution exon 1 HbVar.586 HBG2:c.49G>C HbVar substitution exon 1 HbVar.587 HBG2:c.64G>C HbVar substitution exon 1 HbVar.588 HBG2:c.64G>A HbVar substitution exon 1 HbVar.589 HBG2:c.68A>G HbVar substitution exon 1 HbVar.590 HBG2:c.68A>T HbVar substitution exon 1 HbVar.591 HBG2:c.77G>A HbVar substitution exon 1 HbVar.592 HBG2:c.79G>A HbVar substitution exon 1 HbVar.593 HBG2:c.103G>A HbVar substitution exon 1 HbVar.594 HBG2:c.122G>A HbVar substitution exon 1 HbVar.595 HBG2:c.121A>G HbVar substitution exon 1 HbVar.596 HBG2:c.125T>C HbVar substitution exon 1 HbVar.597 HBG2:c.133A>C HbVar substitution exon 1 HbVar.598 HBG2:c.167T>G HbVar substitution exon 1 HbVar.599 HBG2:c.178A>C HbVar substitution exon 1 HbVar.600 HBG2:c.178A>G HbVar substitution exon 1 HbVar.601 HBG2:c.190C>T HbVar substitution exon 1 HbVar.602 HBG2:c.[198G>T or 198G>C] HbVar substitution exon 1 HbVar.603 HBG2:c.200A>G HbVar substitution exon 1 HbVar.604 HBG2:c.199A>C HbVar substitution exon 1 HbVar.605 HBG2:c.217G>C HbVar substitution exon 1 HbVar.606 HBG2:c.227T>C HbVar substitution exon 1 HbVar.607 HBG2:c.233A>G HbVar substitution exon 1 HbVar.608 HBG2:c.241G>A HbVar substitution exon 1 HbVar.609 HBG2:c.277C>T HbVar substitution exon 1 HbVar.610 HBG2:c.283G>A HbVar substitution exon 1 HbVar.611 HBG2:c.304G>A HbVar substitution exon 1 HbVar.612 HBG2:c.315G>C HbVar substitution exon 1 HbVar.613 HBG2:c.353A>G HbVar substitution exon 1 HbVar.614 HBG2:c.361A>C HbVar substitution exon 1 HbVar.615 HBG2:c.364G>A HbVar substitution exon 1 HbVar.616 HBG2:c.377A>C HbVar substitution exon 1 HbVar.617 HBG2:c.391T>G HbVar substitution exon 1 HbVar.618 HBG2:c.439C>T HbVar substitution exon 1 HbVar.619 HBG1:c.9T>G HbVar substitution exon 1 HbVar.620 HBG1:c.16G>A HbVar substitution exon 1 HbVar.621 HBG1:c.20A>G HbVar substitution exon 1 HbVar.622 HBG1:c.19G>C HbVar substitution exon 1 HbVar.623 HBG1:c.38C>G HbVar substitution exon 1 HbVar.624 HBG1:c.68A>G HbVar substitution exon 1 HbVar.625 HBG1:c.110C>G HbVar substitution exon 1 HbVar.626 HBG1:c.112T>G HbVar substitution exon 1 HbVar.627 HBG1:c.119A>G HbVar substitution exon 1 HbVar.628 HBG1:c.122G>A HbVar substitution exon 1 HbVar.629 HBG1:c.161C>A HbVar substitution exon 1 HbVar.630 HBG1:c.184A>G HbVar substitution exon 1 HbVar.631 HBG1:c.217G>C HbVar substitution exon 1 HbVar.632 HBG1:c.220G>C HbVar substitution exon 1 HbVar.633 U01317.1(HBG1):c.227T>C HbVar substitution exon 1 HbVar.634 HBG1:c.238G>A HbVar substitution exon 1 HbVar.635 HBG1:c.241G>T HbVar substitution exon 1 HbVar.636 HBG1:c.293A>G HbVar substitution exon 1 HbVar.637 HBG1:c.364G>A HbVar substitution exon 1 HbVar.638 HBG1:c.385G>A HbVar substitution exon 1 HbVar.639 HBG1:c.403G>A HbVar substitution exon 1 HbVar.640 HBG1:c.19G>A (or HBG2) HbVar substitution exon 1 HbVar.641 HBG2:c.38C>A (or HBG1) HbVar substitution exon 1 HbVar.642 HBG1:c.327T>A (or HBG2) HbVar substitution exon 1 HbVar.643 HBG1:c.70_72delGCT HbVar deletion exon 1 HbVar.644 HBG1:c.76G>C HbVar substitution exon 1 HbVar.645 HBG1:c.130G>A HbVar substitution exon 1 HbVar.646 HBG1:c.220G>A HbVar substitution exon 1 HbVar.647 HBG1:c.241G>A HbVar substitution exon 1 HbVar.648 HBG1:c.364G>A HbVar substitution exon 1 HbVar.649 HBB:c.-151C>T HbVar substitution not within known transcription unit 1 HbVar.650 HBD:c.5T>C HbVar substitution exon 1 HbVar.651 HBD:c.8A>G HbVar substitution exon 1 HbVar.652 HBD:c.35T>G HbVar substitution exon 1 HbVar.653 HBD:c.39T>A HbVar substitution exon 1 HbVar.654 HBD:c.49G>C HbVar substitution exon 1 HbVar.655 HBD:c.62T>A HbVar substitution exon 1 HbVar.656 HBD:c.68C>A HbVar substitution exon 1 HbVar.657 HBD:c.74G>A HbVar substitution exon 1 HbVar.658 HBD:c.77G>A HbVar substitution exon 1 HbVar.659 HBD:c.81G>C HbVar substitution exon 1 HbVar.660 HBD:c.82G>T HbVar substitution exon 1 HbVar.661 HBD:c.110C>A HbVar substitution exon 1 HbVar.662 HBD:c.130G>A HbVar substitution exon 1 HbVar.663 HBD:c.131A>G HbVar substitution exon 1 HbVar.664 HBD:c.143A>T HbVar substitution exon 1 HbVar.665 HBD:c.155C>G HbVar substitution exon 1 HbVar.666 HBD:c.208G>C HbVar substitution exon 1 HbVar.667 HBD:c.226C>G HbVar substitution exon 1 HbVar.668 HBD:c.251G>A HbVar substitution exon 1 HbVar.669 HBD:c.257T>C HbVar substitution exon 1 HbVar.670 HBD:c.272A>T HbVar substitution exon 1 HbVar.671 HBD:c.280T>G HbVar substitution exon 1 HbVar.672 HBD:c.295G>A HbVar substitution exon 1 HbVar.673 HBD:c.298G>A HbVar substitution exon 1 HbVar.674 HBD:c.350G>A HbVar substitution exon 1 HbVar.675 HBD:c.349C>T HbVar substitution exon 1 HbVar.676 HBD:c.352A>G HbVar substitution exon 1 HbVar.677 HBD:c.365A>T HbVar substitution exon 1 HbVar.678 HBD:c.376C>G HbVar substitution exon 1 HbVar.679 HBD:c.410G>A HbVar substitution exon 1 HbVar.680 HBD:c.425T>C HbVar substitution exon 1 HbVar.681 HBD:c.428C>A HbVar substitution exon 1 HbVar.682 HBA2:c.239C>G HbVar substitution exon 1 HbVar.683 HBB:c.[20A>T;70G>A] HbVar substitution exon 1 HbVar.684 HBB:c.[20A>T;176C>G] HbVar substitution exon 1 HbVar.685 HBB:c.[20A>T;220G>A] HbVar substitution exon 1 HbVar.686 HBB:c.[20A>T;249G>T or 249G>C] HbVar substitution exon 1 HbVar.687 HBB:c.[20A>T;364G>A] HbVar substitution exon 1 HbVar.688 HBB:c.[20A>T;428C>T] HbVar substitution exon 1 HbVar.689 HBB:c.[19G>A;112T>A or 112T>C] HbVar substitution exon 1 HbVar.690 HBB:c.[19G>A;286A>G] HbVar substitution exon 1 HbVar.691 HBB:c.[79G>A;314G>C] HbVar substitution exon 1 HbVar.692 HBB:c.[79G>A;364G>C] HbVar substitution exon 1 HbVar.693 HBB:c.[154C>T;157G>A] HbVar substitution exon 1 HbVar.694 HBB:c.[169G>C;259G>C] HbVar substitution exon 1 HbVar.695 HBB:c.[227T>C;424_426delCTG] HbVar complex exon 1 HbVar.696 HBB:c.[232C>T;242A>G] HbVar substitution exon 1 HbVar.697 HBB:c.[278A>C;315G>C or 315G>T] HbVar substitution exon 1 HbVar.698 HBB:c.[295G>A;98T>A] HbVar substitution exon 1 HbVar.699 HBB:c.359G>A HbVar substitution exon 1 HbVar.700 HBB:c.[343C>A;359G>A] HbVar substitution exon 1 HbVar.701 HBB:c.[364G>C;280T>C] HbVar substitution exon 1 HbVar.702 HBA2:c.420delA (or HBA1) HbVar deletion exon 1 HbVar.703 HBA2:c.427T>C HbVar substitution exon 1 HbVar.704 HBA2:c.427T>A HbVar substitution exon 1 HbVar.705 HBA2:c.428A>C HbVar substitution exon 1 HbVar.706 HBA2:c.427T>G HbVar substitution exon 1 HbVar.707 HBA2:c.429A>T HbVar substitution exon 1 HbVar.708 HBB:c.431delA HbVar deletion exon 1 HbVar.709 HBB:c.436_437insCT HbVar insertion exon 1 HbVar.710 HBB:c.441_442insAC HbVar insertion exon 1 HbVar.711 HBA2:c.5T>A (or HBA1) HbVar substitution exon 1 HbVar.712 HBB:c.5T>A HbVar substitution exon 1 HbVar.713 HBB:c.4G>A HbVar substitution exon 1 HbVar.714 HBB:c.8A>C HbVar substitution exon 1 HbVar.715 HBA1:c.19_21delGAC (or HBA2) HbVar deletion exon 1 HbVar.716 HBA1:c.118_120delACC HbVar deletion exon 1 HbVar.717 HBA1:c.157_180del HbVar deletion exon 1 HbVar.718 HBA2:c.226_228delGAC HbVar deletion exon 1 HbVar.719 HBA2:c.423C>A HbVar substitution exon 1 HbVar.720 HBB:c.22_24delGAG HbVar deletion exon 1 HbVar.721 HBB:c.52_57delAAGGTG HbVar deletion exon 1 HbVar.722 HBB:c.70_72delGTT HbVar deletion exon 1 HbVar.723 HBB:c.76_78delGGT HbVar deletion exon 1 HbVar.724 HBB:c.[124_126delTTC or 127_129delTTT] HbVar deletion exon 1 HbVar.725 HBB:c.130_138delGAGTCCTTT HbVar deletion exon 1 HbVar.726 HBB:c.169_180delGGCAACCCTAAG HbVar deletion exon 1 HbVar.727 HBB:c.223_228delGGCCTG HbVar deletion exon 1 HbVar.728 HBB:c.226_228delCTG HbVar deletion exon 1 HbVar.729 HBB:c.262_264delACA HbVar deletion exon 1 HbVar.730 HBB:c.274_288delCTGCACTGTGACAAG HbVar deletion exon 1 HbVar.731 HBB:c.424_426delCTG HbVar deletion exon 1 HbVar.732 HBA1:c.114_115insGAA (or HBA2) HbVar insertion exon 1 HbVar.733 HBA1:p.Glu117_Phe118insHisLeuProAlaGlu (or HBA2) HbVar insertion exon 1 HbVar.734 HBA1:p.Phe118_Thr119insIle HbVar insertion exon 1 HbVar.735 HBA1:p.Thr119_Pro120insGluPheThr (or HBA2) HbVar insertion exon 1 HbVar.736 HBB:c.285_286insGAGCTGCACTGTGAC HbVar insertion exon 1 HbVar.737 HBB:p.Lys96_Leu97insLeuHisCysAspLys HbVar insertion exon 1 HbVar.738 HBB:c.220_228delinsAlaArgCysGln HbVar complex exon 1 HbVar.739 HBB:c.293_295delACG HbVar deletion exon 1 HbVar.740 HBB:c.[418A>T;415_417delGCT] HbVar complex exon 1 HbVar.741 HBB:c.425_433delTGGCCCACA HbVar deletion exon 1 HbVar.742 NG_000007.3:g.63290_70702del HbVar complex not within known transcription unit 1 HbVar.743 NG_000007.3:g.63564_70978del HbVar complex not within known transcription unit 1 HbVar.744 NG_000007.3:g.63632_71046del HbVar complex not within known transcription unit 1 HbVar.745 NG_000007.3:g.[63249_70661del;63571_70985dup] HbVar complex not within known transcription unit 1 HbVar.746 NG_000007.3:g.63249_70661dup HbVar complex not within known transcription unit 1 HbVar.747 NG_000007.3:g.64557_71923dup HbVar complex not within known transcription unit 1 HbVar.749 HBD:c.412_414delGTG HbVar deletion exon 1 HbVar.750 NG_000007.3:g.63632_71046dup HbVar complex not within known transcription unit 1 HbVar.751 NG_000007.3:g.48194_70985del HbVar complex not within known transcription unit 1 HbVar.752 HBB:c.-142C>T HbVar substitution not within known transcription unit 1 HbVar.753 HBA1:c.359C>T HbVar substitution exon 1 HbVar.754 HBB:c.-140C>T HbVar substitution not within known transcription unit 1 HbVar.755 HBB:c.-138C>A HbVar substitution not within known transcription unit 1 HbVar.756 HBB:c.-138C>T HbVar substitution not within known transcription unit 1 HbVar.757 HBB:c.-137C>A HbVar substitution not within known transcription unit 1 HbVar.758 HBB:c.-137C>G HbVar substitution not within known transcription unit 1 HbVar.759 HBB:c.-137C>T HbVar substitution not within known transcription unit 1 HbVar.760 HBB:c.-136C>A HbVar substitution not within known transcription unit 1 HbVar.761 HBB:c.-136C>G HbVar substitution not within known transcription unit 1 HbVar.762 HBB:c.-82C>A HbVar substitution not within known transcription unit 1 HbVar.763 HBB:c.-81A>C HbVar substitution not within known transcription unit 1 HbVar.764 HBB:c.-81A>G HbVar substitution not within known transcription unit 1 HbVar.765 HBB:c.-80T>A HbVar substitution not within known transcription unit 1 HbVar.766 HBB:c.-80T>C HbVar substitution not within known transcription unit 1 HbVar.767 HBB:c.-79A>G HbVar substitution not within known transcription unit 1 HbVar.768 HBB:c.-78A>C HbVar substitution not within known transcription unit 1 HbVar.769 HBB:c.-78A>G HbVar substitution not within known transcription unit 1 HbVar.770 HBB:c.-50A>C HbVar substitution not within known transcription unit 1 HbVar.771 HBB:c.-41delT HbVar deletion 5' UTR 1 HbVar.772 HBB:c.-29G>A HbVar substitution 5' UTR 1 HbVar.773 HBB:c.-18C>G HbVar substitution 5' UTR 1 HbVar.774 HBB:c.-11_-8delAAAC HbVar deletion 5' UTR 1 HbVar.775 HBB:c.1A>G HbVar substitution exon 1 HbVar.776 HBB:c.2T>C HbVar substitution exon 1 HbVar.777 HBB:c.2T>G HbVar substitution exon 1 HbVar.778 HBB:c.3G>A HbVar substitution exon 1 HbVar.779 HBB:c.3G>C HbVar substitution exon 1 HbVar.780 HBB:c.3G>T HbVar substitution exon 1 HbVar.781 HBB:c.4delG HbVar deletion exon 1 HbVar.782 HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT HbVar complex exon 1 HbVar.783 HBB:c.17_18delCT HbVar deletion exon 1 HbVar.784 HBB:c.20delA HbVar deletion exon 1 HbVar.785 HBB:c.25_26delAA HbVar deletion exon 1 HbVar.786 HBB:c.27_28insG HbVar insertion exon 1 HbVar.787 HBB:c.30_31insT HbVar insertion exon 1 HbVar.788 HBB:c.33C>A HbVar substitution exon 1 HbVar.789 HBB:c.36delT HbVar deletion exon 1 HbVar.790 HBB:c.45_46insG HbVar insertion exon 1 HbVar.791 HBB:c.47G>A HbVar substitution exon 1 HbVar.792 HBB:c.313A>T HbVar substitution exon 1 HbVar.793 HBB:c.48G>A HbVar substitution exon 1 HbVar.794 HBB:c.356T>G HbVar substitution exon 1 HbVar.795 HBB:c.109C>G HbVar substitution exon 1 HbVar.796 HBA1:c.166G>C HbVar substitution exon 1 HbVar.797 HBB:c.[367T>C or 369C>G or 369C>A] HbVar substitution exon 1 HbVar.798 HBB:c.46delT HbVar deletion exon 1 HbVar.799 HBB:c.51delC HbVar deletion exon 1 HbVar.800 HBB:c.52A>T HbVar substitution exon 1 HbVar.802 HBB:c.67G>T HbVar substitution exon 1 HbVar.803 HBB:c.68_74delAAGTTGG HbVar deletion exon 1 HbVar.804 HBB:c.74delinsCAC HbVar complex exon 1 HbVar.805 HBB:c.75T>A HbVar substitution exon 1 HbVar.806 HBB:c.76_78delGGT HbVar deletion exon 1 HbVar.807 HBB:c.78_79insT HbVar insertion exon 1 HbVar.808 HBB:c.79G>T HbVar substitution exon 1 HbVar.809 HBB:c.79_80insT HbVar insertion exon 1 HbVar.810 HBB:c.84_85insC HbVar insertion exon 1 HbVar.811 HBB:c.85delC HbVar deletion exon 1 HbVar.812 HBB:c.[367T>C or 369C>G or 369C>A ; 197A>T] HbVar substitution exon 1 HbVar.813 HBB:c.88delG HbVar deletion exon 1 HbVar.814 HBB:c.90C>T HbVar substitution exon 1 HbVar.815 HBB:c.91A>G HbVar substitution exon 1 HbVar.816 HBB:c.92G>A HbVar substitution exon 1 HbVar.817 HBB:c.92+1G>A HbVar substitution intron 1 HbVar.818 HBB:c.92+1G>T HbVar substitution intron 1 HbVar.819 HBB:c.92+2T>A HbVar substitution intron 1 HbVar.820 HBB:c.92+2T>C HbVar substitution intron 1 HbVar.821 HBB:c.92+2T>G HbVar substitution intron 1 HbVar.822 HBB:c.92+5G>A HbVar substitution intron 1 HbVar.823 HBB:c.92+5G>A HbVar substitution intron 1 HbVar.824 HBB:c.92+5G>C HbVar substitution intron 1 HbVar.825 HBB:c.92+5G>T HbVar substitution intron 1 HbVar.826 HBB:c.92+6T>C HbVar substitution intron 1 HbVar.827 HBB:c.93-21G>A HbVar substitution intron 1 HbVar.828 HBB:c.93-15T>G HbVar substitution intron 1 HbVar.829 HBB:c.93-3T>G HbVar substitution intron 1 HbVar.830 HBB:c.93-1G>A HbVar substitution intron 1 HbVar.831 HBB:c.93-1G>C HbVar substitution intron 1 HbVar.832 HBA2:c.80C>T HbVar substitution exon 1 HbVar.833 HBB:c.93G>C HbVar substitution exon 1 HbVar.834 HBB:c.93-17_93-1delTATTTTCCCACCCTTAG HbVar deletion intron 1 HbVar.835 HBB:c.94delC HbVar deletion exon 1 HbVar.836 HBB:c.93_94insCGG HbVar insertion exon 1 HbVar.837 HBB:c.100_102delGTG HbVar deletion exon 1 HbVar.838 HBB:c.108C>A HbVar substitution exon 1 HbVar.839 HBB:c.108delC HbVar deletion exon 1 HbVar.840 HBB:c.112delT HbVar deletion exon 1 HbVar.841 HBB:c.114G>A HbVar substitution exon 1 HbVar.842 HBB:c.114_120delGACCCAG HbVar deletion exon 1 HbVar.843 HBB:c.118delC HbVar deletion exon 1 HbVar.844 HBB:c.116_117delCC HbVar deletion exon 1 HbVar.845 HBB:c.118C>T HbVar substitution exon 1 HbVar.846 HBB:c.123delG HbVar deletion exon 1 HbVar.847 HBB:c.123_124insT HbVar insertion exon 1 HbVar.848 HBB:c.126delC HbVar deletion exon 1 HbVar.849 HBB:c.126_129delCTTT HbVar deletion exon 1 HbVar.850 HBB:c.129_130insG HbVar insertion exon 1 HbVar.851 HBB:c.129_130insT HbVar insertion exon 1 HbVar.852 HBG2:c.[60T>A or 60T>G] HbVar substitution exon 1 HbVar.853 HBB:c.130G>T HbVar substitution exon 1 HbVar.854 HBB:c.135delC HbVar deletion exon 1 HbVar.855 HBB:c.136delT HbVar deletion exon 1 HbVar.856 HBB:c.143_144insA HbVar insertion exon 1 HbVar.857 HBB:c.146_147insATCT HbVar insertion exon 1 HbVar.858 HBB:c.154delC HbVar deletion exon 1 HbVar.860 HBB:c.162_163insG HbVar insertion exon 1 HbVar.861 HBB:c.165delT HbVar deletion exon 1 HbVar.862 HBB:c.165_166insA HbVar insertion exon 1 HbVar.863 HBB:c.170_183dup HbVar insertion exon 1 HbVar.864 HBB:c.174_175insC HbVar insertion exon 1 HbVar.865 HBB:c.178delA HbVar deletion exon 1 HbVar.866 HBB:c.184A>T HbVar substitution exon 1 HbVar.867 HBB:c.193delG HbVar deletion exon 1 HbVar.868 HBB:c.202_203delGT HbVar deletion exon 1 HbVar.869 HBB:c.216_217insA HbVar insertion exon 1 HbVar.870 HBB:c.216_217insT HbVar insertion exon 1 HbVar.871 HBB:c.217_221delinsT HbVar complex exon 1 HbVar.872 HBG2:c.[54G>C or 54G>T] HbVar substitution exon 1 HbVar.873 HBB:c.225delC HbVar deletion exon 1 HbVar.874 HBB:c.230delC HbVar deletion exon 1 HbVar.875 HBB:c.250delG HbVar deletion exon 1 HbVar.876 HBB:c.255_256insC HbVar insertion exon 1 HbVar.877 HBB:c.258_259insT HbVar insertion exon 1 HbVar.878 HBB:c.266_267insT HbVar insertion exon 1 HbVar.879 HBB:c.269_270delGT HbVar deletion exon 1 HbVar.880 HBB:c.271G>T HbVar substitution exon 1 HbVar.881 HBB:c.283_284insTG HbVar insertion exon 1 HbVar.882 HBB:c.287_288insA HbVar insertion exon 1 HbVar.883 HBB:c.301_303delinsTCTGAGAACTT HbVar complex exon 1 HbVar.884 HBB:c.315+1G>A HbVar substitution intron 1 HbVar.885 HBB:c.315+1G>C HbVar substitution intron 1 HbVar.886 HBB:c.315+2_315+3delinsACGTTCTCTGA HbVar complex intron 1 HbVar.887 HBB:c.315+4_315+5delAG HbVar deletion intron 1 HbVar.888 HBB:c.315+5G>C HbVar substitution intron 1 HbVar.889 HBB:c.316-197C>T HbVar substitution intron 1 HbVar.890 HBB:c.316-146T>G HbVar substitution intron 1 HbVar.891 HBB:c.316-106C>G HbVar substitution intron 1 HbVar.892 HBG2:c.355T>C HbVar substitution exon 1 HbVar.893 HBB:c.253A>G HbVar substitution exon 1 HbVar.894 HBA2:c.177C>A HbVar substitution exon 1 HbVar.895 HBB:c.316-14T>G HbVar substitution intron 1 HbVar.896 HBA1:c.310C>T HbVar substitution exon 1 HbVar.897 HBB:c.316-8T>G HbVar substitution intron 1 HbVar.898 HBB:c.316-7C>G HbVar substitution intron 1 HbVar.899 HBB:c.439C>T HbVar substitution exon 1 HbVar.900 HBA2:c.233C>A HbVar substitution exon 1 HbVar.901 HBB:c.316-3C>A HbVar substitution intron 1 HbVar.902 HBA1:p.Leu87_His88insSerAspLeu (or HBA2) HbVar insertion exon 1 HbVar.903 HBB:c.326A>T HbVar substitution exon 1 HbVar.904 HBB:c.419A>C HbVar substitution exon 1 HbVar.905 HBA1:c.112_114delCCC HbVar deletion exon 1 HbVar.906 HBA1:c.187_189delGTG HbVar deletion exon 1 HbVar.907 HBB:c.101_106delTGGTCT HbVar deletion exon 1 HbVar.908 HBB:c.371C>A HbVar substitution exon 1 HbVar.909 HBB:c.401T>C HbVar substitution exon 1 HbVar.910 HBA1:c.62A>C (or HBA2) HbVar substitution exon 1 HbVar.911 HBA2:c.61C>G HbVar substitution exon 1 HbVar.912 HBA2:c.272A>G HbVar substitution exon 1 HbVar.913 HBB:c.5T>G HbVar substitution exon 1 HbVar.914 HBA2:c.30C>G HbVar substitution exon 1 HbVar.915 HBA1:c.139T>C (or HBA2) or 141C>G or 141C>A HbVar substitution exon 1 HbVar.916 HBA2:c.200T>C HbVar substitution exon 1 HbVar.917 HBA2:c.217C>G HbVar substitution exon 1 HbVar.918 HBA1:c.263A>C (or HBA2) HbVar substitution exon 1 HbVar.919 HBA1:c.270C>G HbVar substitution exon 1 HbVar.920 HBA1:c.287C>A HbVar substitution exon 1 HbVar.921 HBA2:c.310C>T HbVar substitution exon 1 HbVar.922 HBA2:c.341T>G HbVar substitution exon 1 HbVar.923 HBA2:c.370G>A HbVar substitution exon 1 HbVar.924 HBA1:c.253A>G (or HBA2) HbVar substitution exon 1 HbVar.925 HBB:c.65A>T HbVar substitution exon 1 HbVar.926 HBB:c.120G>C HbVar substitution exon 1 HbVar.927 HBB:c.292C>A HbVar substitution exon 1 HbVar.928 HBB:c.326A>G HbVar substitution exon 1 HbVar.929 HBB:c.427G>A HbVar substitution exon 1 HbVar.930 HBA1:c.381C>G HbVar substitution exon 1 HbVar.931 HBB:c.404T>C HbVar substitution exon 1 HbVar.932 HBB:c.301C>G HbVar substitution exon 1 HbVar.935 HBB:c.143A>T HbVar substitution exon 1 HbVar.936 HBA1:c.184_186delAAG HbVar deletion exon 1 HbVar.937 HBA2:c.[339C>G;340_351delCTCCCCGCCGAG] HbVar complex exon 1 HbVar.938 HBB:c.316-3C>G HbVar substitution intron 1 HbVar.939 HBB:c.316-2A>C HbVar substitution intron 1 HbVar.940 HBB:c.316-2A>G HbVar substitution intron 1 HbVar.941 HBB:c.316-1delG HbVar deletion intron 1 HbVar.942 HBB:c.316-1G>A HbVar substitution intron 1 HbVar.943 HBB:c.316-1G>C HbVar substitution intron 1 HbVar.944 HBB:c.316-1G>T HbVar substitution intron 1 HbVar.945 HBB:c.321_322insG HbVar insertion exon 1 HbVar.946 HBB:c.326_337delACGTGCTGGTCT HbVar deletion exon 1 HbVar.947 HBB:c.328delG HbVar deletion exon 1 HbVar.948 HBB:c.339T>A HbVar substitution exon 1 HbVar.949 HBB:c.343_344delinsG HbVar complex exon 1 HbVar.950 HBB:c.363_364insA HbVar insertion exon 1 HbVar.951 HBB:c.364G>T HbVar substitution exon 1 HbVar.952 HBB:c.370delA HbVar deletion exon 1 HbVar.953 HBB:c.370_378delACCCCACCA HbVar deletion exon 1 HbVar.954 HBB:c.375delA HbVar deletion exon 1 HbVar.955 HBB:c.378delA HbVar deletion exon 1 HbVar.956 HBB:c.378_379insCCA HbVar insertion exon 1 HbVar.957 HBB:c.380delT HbVar deletion exon 1 HbVar.958 HBB:c.380_396delTGCAGGCTGCCTATCAG HbVar deletion exon 1 HbVar.959 HBB:c.383A>C HbVar substitution exon 1 HbVar.960 HBB:c.383A>G HbVar substitution exon 1 HbVar.961 HBB:c.382C>T HbVar substitution exon 1 HbVar.962 HBB:c.383_385delAGG HbVar deletion exon 1 HbVar.963 HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC] HbVar complex exon 1 HbVar.964 HBB:c.404_413delinsGCAG HbVar complex exon 1 HbVar.965 HBB:c.*+6C>G HbVar substitution 3' UTR 1 HbVar.966 HBB:c.*+91_*+103delGCATCTGGATTCT HbVar deletion 3' UTR 1 HbVar.967 HBB:c.*+96T>C HbVar substitution 3' UTR 1 HbVar.968 HBB:c.*+110T>C HbVar substitution 3' UTR 1 HbVar.969 HBB:c.*+111A>G HbVar substitution 3' UTR 1 HbVar.970 HBB:c.*+112A>G HbVar substitution 3' UTR 1 HbVar.971 HBB:c.*+113A>G HbVar substitution 3' UTR 1 HbVar.972 HBB:c.[*+109_*+110delAT or *+110_*+111delTA] HbVar deletion 3' UTR 1 HbVar.973 HBB:c.*+108_*+112delAATAA HbVar deletion 3' UTR 1 HbVar.974 HBB:c.93-21_96del HbVar deletion not within known transcription unit 1 HbVar.975 HBB:c.76_92+27del HbVar deletion not within known transcription unit 1 HbVar.976 HBB:c.-74_31del HbVar deletion 5' UTR 1 HbVar.977 HBB:c.-176_92+25del HbVar deletion not within known transcription unit 1 HbVar.978 HBB:c.-504_28del HbVar deletion not within known transcription unit 1 HbVar.979 NG_000007.3:g.71609_72227del619 HbVar deletion not within known transcription unit 1 HbVar.980 NG_000007.3:g.70060_71452del1393 HbVar deletion not within known transcription unit 1 HbVar.981 NG_000007.3:g.69561_71164del1604 HbVar deletion not within known transcription unit 1 HbVar.987 NG_000007.3:g.68071_80682del12612 HbVar deletion not within known transcription unit 1 HbVar.989 NG_000007.3:g.66258_184734del118477 HbVar deletion not within known transcription unit 1 HbVar.991 HBD:c.-127T>C HbVar substitution 5' UTR 1 HbVar.992 HBD:c.-115A>G HbVar substitution 5' UTR 1 HbVar.993 HBD:c.-105T>C HbVar substitution 5' UTR 1 HbVar.994 HBD:c.-86C>A HbVar substitution 5' UTR 1 HbVar.995 HBD:c.14C>T HbVar substitution exon 1 HbVar.996 HBD:c.92G>C HbVar substitution exon 1 HbVar.997 HBD:c.92+2T>C HbVar substitution intron 1 HbVar.998 HBD:c.113G>A HbVar substitution exon 1 HbVar.999 HBD:c.178delA HbVar deletion exon 1 HbVar.1000 HBD:c.270_271insT HbVar insertion exon 1 HbVar.1001 HBD:c.316-2A>C HbVar substitution intron 1 HbVar.1002 HBD:c.349C>T HbVar substitution exon 1 HbVar.1003 HBD:c.425T>C HbVar substitution exon 1 HbVar.1004 HBD:c.*+199G>A HbVar substitution not within known transcription unit 1 HbVar.1005 NG_000007.3:g.57237_64443del7207 HbVar deletion not within known transcription unit 1 HbVar.1006 HBG2:c.-255C>G HbVar substitution not within known transcription unit 1 HbVar.1007 HBG1:c.-255C>T HbVar substitution not within known transcription unit 1 HbVar.1009 HBG1:c.-251T>C HbVar substitution not within known transcription unit 1 HbVar.1010 HBG1:c.-249C>T HbVar substitution not within known transcription unit 1 HbVar.1011 HBG1:c.-248C>G HbVar substitution not within known transcription unit 1 HbVar.1012 HBG2:c.-228T>C HbVar substitution not within known transcription unit 1 HbVar.1013 HBG1:c.-228T>C HbVar substitution not within known transcription unit 1 HbVar.1014 HBG1:c.-170G>A HbVar substitution not within known transcription unit 1 HbVar.1015 HBG1:c.-170G>A HbVar substitution not within known transcription unit 1 HbVar.1016 HBG2:c.-167C>G HbVar substitution not within known transcription unit 1 HbVar.1017 HBG2:c.-167C>T HbVar substitution not within known transcription unit 1 HbVar.1018 HBG1:c.-167C>T HbVar substitution not within known transcription unit 1 HbVar.1019 HBG2:c.-163A>C HbVar substitution not within known transcription unit 1 HbVar.1020 HBG1:c.-167_-155delCAATAGCCTTGAC HbVar deletion not within known transcription unit 1 HbVar.1021 NG_000007.3:g.59478_144395del84918 HbVar deletion not within known transcription unit 1 HbVar.1022 NG_000007.3:g.54867_139178del84312 HbVar deletion not within known transcription unit 1 HbVar.1023 NG_000007.3:g.53390_103157del49768 HbVar deletion not within known transcription unit 1 HbVar.1028 NG_000007.3:g.50509_83170del32662 HbVar deletion not within known transcription unit 1 HbVar.1029 NG_000007.3:g.51483_165148del113666 HbVar deletion not within known transcription unit 1 HbVar.1030 NG_000007.3:g.60375_153285del92911 HbVar deletion not within known transcription unit 1 HbVar.1031 NG_000007.3:g.(60530_60730)_(72351_72551)del11822 HbVar deletion not within known transcription unit 1 HbVar.1035 NG_000007.3:g.64336_77738del13403 HbVar deletion not within known transcription unit 1 HbVar.1039 NG_000007.3:g.(45922_46319)_(98640_99640)del HbVar deletion not within known transcription unit 1 HbVar.1042 NG_000007.3:g.45410_81665del36256 HbVar deletion not within known transcription unit 1 HbVar.1043 NG_000007.3:g.(47376_47553)_(89149_90149)del HbVar deletion not within known transcription unit 1 HbVar.1045 NG_000007.3:g.49040_84889del35850 HbVar deletion not within known transcription unit 1 HbVar.1046 NG_000007.3:g.48795_127698del78904 HbVar deletion not within known transcription unit 1 HbVar.1048 NG_000007.3:g.45595_124872del79278 HbVar deletion not within known transcription unit 1 HbVar.1052 NC_000011.8:g.5204501_5300223del HbVar deletion not within known transcription unit 1 HbVar.1055 NC_000011.8:g.5110112_5312961del HbVar deletion not within known transcription unit 1 HbVar.1056 NC_000011.8:g.5207238_5307069del HbVar deletion not within known transcription unit 1 HbVar.1058 NC_000011.8:g.5257379_5297161del HbVar deletion not within known transcription unit 1 HbVar.1059 HBA2:c.1A>G HbVar substitution exon 1 HbVar.1061 HBA2:c.2T>C HbVar substitution exon 1 HbVar.1062 HBA2:c.2delT HbVar deletion exon 1 HbVar.1063 HBA1:c.1A>G HbVar substitution exon 1 HbVar.1065 HBA2:c.95+2_95+6delTGAGG HbVar deletion intron 1 HbVar.1066 HBA2:c.96-2A>G HbVar substitution intron 1 HbVar.1067 HBA1:c.96-1G>A HbVar substitution intron 1 HbVar.1068 HBA1:c.155_167delGCTCTGCCCAGGT HbVar deletion exon 1 HbVar.1069 HBA2:c.349G>T HbVar substitution exon 1 HbVar.1070 HBA2:c.*+94A>G HbVar substitution 3' UTR 1 HbVar.1071 HBA2:c.*+92A>G HbVar substitution 3' UTR 1 HbVar.1072 HBA2:c.*+93_*+94delAA HbVar deletion 3' UTR 1 HbVar.1073 HBA2:c.*+74_*+89delCCTTCCTGGTCTTTGA HbVar deletion 3' UTR 1 HbVar.1074 NG_000006.1:g.36664_39364del2701 HbVar deletion not within known transcription unit 1 HbVar.1075 NG_000006.1:g.37464_40964del3501 HbVar deletion not within known transcription unit 1 HbVar.1076 NG_000006.1:g.34164_37967del3804 HbVar deletion not within known transcription unit 1 HbVar.1080 NG_000006.1:g.28684_33930del5246 HbVar deletion not within known transcription unit 1 HbVar.1083 NG_000006.1:g.32864_42264del9401 HbVar deletion not within known transcription unit 1 HbVar.1084 NG_000006.1:g.30864_41414del10551 HbVar deletion not within known transcription unit 1 HbVar.1085 NG_000006.1:g.29364_42464del13101 HbVar deletion not within known transcription unit 1 HbVar.1086 NG_000006.1:g.26264_45564del19301 HbVar deletion not within known transcription unit 1 HbVar.1087 NG_000006.1:g.24664_41064del16401 HbVar deletion not within known transcription unit 1 HbVar.1088 NG_000006.1:g.15164_37864del22701 HbVar deletion not within known transcription unit 1 HbVar.1089 NG_000006.1:g.18964_39864del20901 HbVar deletion not within known transcription unit 1 HbVar.1090 NG_000006.1:g.19464_43064del23601 HbVar deletion not within known transcription unit 1 HbVar.1091 NG_000006.1:g.16364_45664del29301 HbVar deletion not within known transcription unit 1 HbVar.1093 NG_000006.1:g.13314_124664del111351 HbVar deletion not within known transcription unit 1 HbVar.1094 NG_000006.1:g.11684_43534del31851 HbVar deletion not within known transcription unit 1 HbVar.1095 NG_000006.1:g.10664_44164del33501 HbVar deletion not within known transcription unit 1 HbVar.1096 NG_000006.1:g.8464_40664del32201 HbVar deletion not within known transcription unit 1 HbVar.1097 NG_000006.1:g.10864_40864del30001 HbVar deletion not within known transcription unit 1 HbVar.1100 NG_000006.1:g.12264_49164del36901 HbVar deletion not within known transcription unit 1 HbVar.1102 NG_000006.1:g.164_43364del43201 HbVar deletion not within known transcription unit 1 HbVar.1103 HBB:c.10C>G HbVar substitution exon 1 HbVar.1105 HBA2:c.418A>G HbVar substitution exon 1 HbVar.1106 HBA1:c.367C>T HbVar substitution exon 1 HbVar.1107 HBD:c.25A>G HbVar substitution exon 1 HbVar.1108 HBB:c.265C>G HbVar substitution exon 1 HbVar.1109 HBA1:c.269A>G (or HBA2) HbVar substitution exon 1 HbVar.1110 HBB:c.209_210insGCTCGG HbVar insertion exon 1 HbVar.1111 HBA2:c.5T>C HbVar substitution exon 1 HbVar.1112 HBA1:c.11C>T HbVar substitution exon 1 HbVar.1113 HBB:c.409G>C HbVar substitution exon 1 HbVar.1114 HBA2:c.167T>C HbVar substitution exon 1 HbVar.1115 HBG2:c.226A>G HbVar substitution exon 1 HbVar.1116 HBA2:c.29A>G HbVar substitution exon 1 HbVar.1117 HBA1:c.123G>C HbVar substitution exon 1 HbVar.1118 HBB:c.349C>T HbVar substitution exon 1 HbVar.1119 HBB:c.125T>G HbVar substitution exon 1 HbVar.1120 HBA1:c.309C>A HbVar substitution exon 1 HbVar.1121 HBA2:c.309C>A HbVar substitution exon 1 HbVar.1122 HBA1:c.30C>G HbVar substitution exon 1 HbVar.1123 HBA1:c.358C>T HbVar substitution exon 1 HbVar.1125 HBB:c.[29C>A;364G>C] HbVar substitution exon 1 HbVar.1126 HBD:c.440A>G HbVar substitution exon 1 HbVar.1128 HBB:c.[34G>A;364G>A] HbVar substitution exon 1 HbVar.1129 HBB:c.27G>C HbVar substitution exon 1 HbVar.1135 HBB:c.[16delC;8_9insC] HbVar complex exon 1 HbVar.1136 HBB:c.338G>T HbVar substitution exon 1 HbVar.1137 HBB:c.379G>C HbVar substitution exon 1 HbVar.1138 HBA2:c.[427T>C;429A>T] HbVar substitution exon 1 HbVar.1139 HBA1:c.133C>G (or HBA2) HbVar substitution exon 1 HbVar.1141 HBB:c.441C>G HbVar substitution exon 1 HbVar.1142 HBA1:c.396_397insT HbVar insertion exon 1 HbVar.1143 HBB:c.194G>C HbVar substitution exon 1 HbVar.1144 HBB:c.[340G>C or 340G>T] HbVar substitution exon 1 HbVar.1145 HBB:c.184A>C HbVar substitution exon 1 HbVar.1146 HBG1:c.364G>C HbVar substitution exon 1 HbVar.1147 HBB:c.307A>C HbVar substitution exon 1 HbVar.1148 HBB:c.350A>T HbVar substitution exon 1 HbVar.1149 HBB:c.103G>C HbVar substitution exon 1 HbVar.1150 HBB:c.230C>T HbVar substitution exon 1 HbVar.1151 HBB:c.350A>C HbVar substitution exon 1 HbVar.1152 HBG2:c.115A>C HbVar substitution exon 1 HbVar.1153 HBB:c.94C>G HbVar substitution exon 1 HbVar.1154 HBB:c.100G>A HbVar substitution exon 1 HbVar.1155 HBA2:c.113C>T HbVar substitution exon 1 HbVar.1156 HBB:c.149C>G HbVar substitution exon 1 HbVar.1157 HBB:c.172A>C HbVar substitution exon 1 HbVar.1158 HBB:c.130G>A HbVar substitution exon 1 HbVar.1159 HBA2:c.101T>C HbVar substitution exon 1 HbVar.1160 HBB:c.104T>A HbVar substitution exon 1 HbVar.1163 HBG2:c.-167C>A HbVar substitution not within known transcription unit 1 HbVar.1164 HBB:c.434delA HbVar deletion exon 1 HbVar.1165 HBB:c.281G>A HbVar substitution exon 1 HbVar.1166 HBA1:c.133C>G HbVar substitution exon 1 HbVar.1167 HBD:c.174C>A HbVar substitution exon 1 HbVar.1168 HBD:c.265C>G HbVar substitution exon 1 HbVar.1169 HBD:c.315G>T HbVar substitution exon 1 HbVar.1170 HBB:c.259G>C HbVar substitution exon 1 HbVar.1171 HBB:c.16C>G HbVar substitution exon 1 HbVar.1172 HBA2:c.373T>C HbVar substitution exon 1 HbVar.1173 HBB:c.[20A>T;205C>T] HbVar substitution exon 1 HbVar.1174 HBA2:c.420A>C HbVar substitution exon 1 HbVar.1175 HBA2:c.1A>G HbVar substitution exon 1 HbVar.1176 HBA1:c.70G>T HbVar substitution exon 1 HbVar.1177 HBA2:c.*+107A>G HbVar substitution not within known transcription unit 1 HbVar.1178 HBA1:c.-16T>C HbVar substitution 5' UTR 1 HbVar.1179 HBD:c.-126A>T HbVar substitution 5' UTR 1 HbVar.1180 HBD:c.315+6T>A HbVar substitution intron 1 HbVar.1181 HBB:c.233A>T HbVar substitution exon 1 HbVar.1182 HBA1:c.272A>G HbVar substitution exon 1 HbVar.1183 HBA2:c.290T>A HbVar substitution exon 1 HbVar.1184 HBA1:c.207_208insGCGCTGACCAAC HbVar insertion exon 1 HbVar.1185 HBB:c.[180G>C or 180G>T] HbVar substitution exon 1 HbVar.1186 HBD:c.-81A>G HbVar substitution 5' UTR 1 HbVar.1187 HBA2:c.196G>A HbVar substitution exon 1 HbVar.1188 HBA2:c.208G>A HbVar substitution exon 1 HbVar.1189 HBA1:c.395C>T HbVar substitution exon 1 HbVar.1190 HBA2:c.127T>C HbVar substitution exon 1 HbVar.1191 HBB:c.201A>T HbVar substitution exon 1 HbVar.1192 HBA2:c.*+94A>C HbVar substitution 3' UTR 1 HbVar.1194 HBD:c.-80T>C HbVar substitution 5' UTR 1 HbVar.1196 HBD:c.316-5C>T HbVar substitution intron 1 HbVar.1197 HBD:c.93-1G>C HbVar substitution intron 1 HbVar.1199 HBA2:c.178G>C HbVar substitution exon 1 HbVar.1200 HBB:c.349_350insTGAT HbVar insertion exon 1 HbVar.1201 HBB:c.310T>G HbVar substitution exon 1 HbVar.1202 HBB:c.88G>A HbVar substitution exon 1 HbVar.1203 HBB:c.80A>C HbVar substitution exon 1 HbVar.1204 HBB:c.349_350insGTGTGCTGGCCC HbVar insertion exon 1 HbVar.1205 HBA1:c.281T>C HbVar substitution exon 1 HbVar.1207 HBA1:c.300G>T HbVar substitution exon 1 HbVar.1208 HBG1:c.410C>G HbVar substitution exon 1 HbVar.1209 HBB:c.[20A>T;271G>A] HbVar substitution exon 1 HbVar.1210 HBB:c.29C>A HbVar substitution exon 1 HbVar.1211 HBA2:c.244T>C HbVar substitution exon 1 HbVar.1212 HBD:c.401T>C HbVar substitution exon 1 HbVar.1213 HBB:c.424delC HbVar deletion exon 1 HbVar.1214 HBB:c.[20A>T;399A>C] HbVar substitution exon 1 HbVar.1215 HBA1:c.92A>T HbVar substitution exon 1 HbVar.1216 HBA1:c.92A>C HbVar substitution exon 1 HbVar.1217 HBA2:c.50A>C HbVar substitution exon 1 HbVar.1218 HBG1:c.409G>T HbVar substitution exon 1 HbVar.1219 HBB:c.212C>G HbVar substitution exon 1 HbVar.1220 HBB:c.211G>C HbVar substitution exon 1 HbVar.1221 HBB:c.355delT HbVar deletion exon 1 HbVar.1222 HBB:c.173A>C HbVar substitution exon 1 HbVar.1223 HBA2:c.231G>A HbVar substitution exon 1 HbVar.1224 HBA1:c.313T>A HbVar substitution exon 1 HbVar.1225 HBB:c.283G>T HbVar substitution exon 1 HbVar.1226 HBA2:c.377T>G HbVar substitution exon 1 HbVar.1227 HBB:c.142G>C HbVar substitution exon 1 HbVar.1228 HBB:c.114G>T HbVar substitution exon 1 HbVar.1229 HBB:c.409G>T HbVar substitution exon 1 HbVar.1230 HBB:c.416C>T HbVar substitution exon 1 HbVar.1231 HBB:c.[424C>G;433A>T] HbVar substitution exon 1 HbVar.1232 HBB:c.71T>C HbVar substitution exon 1 HbVar.1233 HBA1:c.154G>A HbVar substitution exon 1 HbVar.1234 HBB:c.431A>T HbVar substitution exon 1 HbVar.1235 HBA2:c.99G>A HbVar substitution exon 1 HbVar.1236 HBB:c.248A>G HbVar substitution exon 1 HbVar.1237 HBB:c.413_418delTGGCTA HbVar deletion exon 1 HbVar.1238 HBD:c.180G>C HbVar substitution exon 1 HbVar.1239 HBA1:c.29A>C (or HBA2) HbVar substitution exon 1 HbVar.1240 HBA1:c.40G>C (or HBA2) HbVar substitution exon 1 HbVar.1241 HBA1:c.83A>C (or HBA2) HbVar substitution exon 1 HbVar.1242 HBA1:c.116C>T (or HBA2) HbVar substitution exon 1 HbVar.1243 HBA1:c.152A>T (or HBA2) HbVar substitution exon 1 HbVar.1244 HBA1:c.230T>G (or HBA2) HbVar substitution exon 1 HbVar.1246 HBB:c.[19G>A;251G>A] HbVar substitution exon 1 HbVar.1247 HBB:c.305A>C HbVar substitution exon 1 HbVar.1248 HBD:c.41C>A HbVar substitution exon 1 HbVar.1249 HBB:c.223G>A HbVar substitution exon 1 HbVar.1250 HBA2:c.227A>T HbVar substitution exon 1 HbVar.1251 HBB:c.415G>A HbVar substitution exon 1 HbVar.1254 NC_000016.8:g.1_112800del HbVar deletion not within known transcription unit 1 HbVar.1255 HBA2:c.121A>C HbVar substitution exon 1 HbVar.1256 HBB:c.212C>T HbVar substitution exon 1 HbVar.1257 HBB:c.26A>G HbVar substitution exon 1 HbVar.2501 HBA2:c.73T>G HbVar substitution exon 1 HbVar.2502 HBA1:c.205A>C HbVar substitution exon 1 HbVar.2503 HBA1:c.392C>T HbVar substitution exon 1 HbVar.2504 HBA1:c.247_255delGCCCTGAGC HbVar deletion exon 1 HbVar.2508 HBB:c.316-90A>G HbVar substitution intron 1 HbVar.2509 HBB:c.-31C>T HbVar substitution 5' UTR 1 HbVar.2510 HBB:c.396_397delGA HbVar deletion exon 1 HbVar.2511 HBB:c.275delT HbVar deletion exon 1 HbVar.2512 HBG1:c.-211C>T HbVar substitution not within known transcription unit 1 HbVar.2513 HBG1:c.-264C>T HbVar substitution not within known transcription unit 1 HbVar.2514 HBA2:c.69C>T HbVar substitution exon 1 HbVar.2515 HBA1:c.44G>A HbVar substitution exon 1 HbVar.2516 HBA2:c.56delG HbVar deletion exon 1 HbVar.2517 HBB:c.-143C>G HbVar substitution not within known transcription unit 1 HbVar.2518 HBB:c.14C>A HbVar substitution exon 1 HbVar.2519 HBA2:c.311A>T HbVar substitution exon 1 HbVar.2520 HBB:c.[20A>T;112T>G] HbVar substitution exon 1 HbVar.2522 HBA2:c.300+2T>A HbVar substitution intron 1 HbVar.2526 HBG2:c.62T>C HbVar substitution exon 1 HbVar.2527 HBB:c.93-2A>G HbVar substitution intron 1 HbVar.2528 HBB:c.178A>T HbVar substitution exon 1 HbVar.2529 HBB:c.113G>A HbVar substitution exon 1 HbVar.2530 HBB:c.2T>A HbVar substitution exon 1 HbVar.2531 HBA2:c.70G>T HbVar substitution exon 1 HbVar.2532 HBA2:c.271A>T HbVar substitution exon 1 HbVar.2533 HBB:c.232delC HbVar deletion exon 1 HbVar.2534 HBB:c.315+2T>A HbVar substitution intron 1 HbVar.2535 HBB:c.-75G>C HbVar substitution not within known transcription unit 1 HbVar.2536 HBB:c.-82C>T HbVar substitution not within known transcription unit 1 HbVar.2537 HBB:c.-77_-76delAA HbVar deletion not within known transcription unit 1 HbVar.2538 HBB:c.229_230delGC HbVar deletion exon 1 HbVar.2539 HBA2:c.326C>A HbVar substitution exon 1 HbVar.2540 HBB:c.116C>T HbVar substitution exon 1 HbVar.2541 HBA2:c.14C>A HbVar substitution exon 1 HbVar.2542 HBB:c.98T>A HbVar substitution exon 1 HbVar.2543 HBB:c.151A>T HbVar substitution exon 1 HbVar.2545 HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT] HbVar insertion not within known transcription unit 1 HbVar.2546 HBB:c.355T>G HbVar substitution exon 1 HbVar.2548 HBB:c.397A>T HbVar substitution exon 1 HbVar.2550 HBD:c.8A>T HbVar substitution exon 1 HbVar.2554 HBD:c.212C>G HbVar substitution exon 1 HbVar.2555 HBD:c.262C>A HbVar substitution exon 1 HbVar.2556 HBD:c.422C>T HbVar substitution exon 1 HbVar.2557 HBB:c.241A>T HbVar substitution exon 1 HbVar.2558 HBB:c.252_253insNG_000007.3:g.70911_70975 HbVar insertion exon 1 HbVar.2563 HBA2:c.284A>T HbVar substitution exon 1 HbVar.2565 HBA2:c.403A>G HbVar substitution exon 1 HbVar.2566 HBA1:c.406G>A HbVar substitution exon 1 HbVar.2567 HBA2:c.416C>T HbVar substitution exon 1 HbVar.2569 HBA2:c.406G>C HbVar substitution exon 1 HbVar.2570 HBA2:c.106T>C HbVar substitution exon 1 HbVar.2571 HBB:c.316-125A>G HbVar substitution intron 1 HbVar.2572 HBB:c.92+7A>T HbVar substitution intron 1 HbVar.2573 HBB:c.315+2T>C HbVar substitution intron 1 HbVar.2574 HBB:c.314delG HbVar deletion exon 1 HbVar.2575 HBA2:c.149_150delGC HbVar deletion exon 1 HbVar.2576 HBD:c.23A>C HbVar substitution exon 1 HbVar.2577 HBA2:c.4G>A HbVar substitution exon 1 HbVar.2578 HBA1:c.19G>C HbVar substitution exon 1 HbVar.2579 HBA2:c.19G>C HbVar substitution exon 1 HbVar.2580 HBB:c.20A>G HbVar substitution exon 1 HbVar.2581 HBA1:c.178G>A HbVar substitution exon 1 HbVar.2582 HBA1:c.122A>C HbVar substitution exon 1 HbVar.2583 HBB:c.350A>G HbVar substitution exon 1 HbVar.2584 HBB:c.[259G>A;260C>T] HbVar substitution exon 1 HbVar.2585 HBA1:c.274C>T HbVar substitution exon 1 HbVar.2586 HBA1:c.416C>G HbVar substitution exon 1 HbVar.2587 HBA2:c.45G>C HbVar substitution exon 1 HbVar.2588 HBB:c.11T>A HbVar substitution exon 1 HbVar.2589 HBB:c.31G>A HbVar substitution exon 1 HbVar.2590 HBB:c.137T>A HbVar substitution exon 1 HbVar.2591 HBA2:c.205A>C HbVar substitution exon 1 HbVar.2592 HBA2:c.377T>A HbVar substitution exon 1 HbVar.2594 HBA1:c.29A>G HbVar substitution exon 1 HbVar.2595 HBA2:c.109T>C HbVar substitution exon 1 HbVar.2596 HBA1:c.211G>A HbVar substitution exon 1 HbVar.2597 HBA2:c.95+1G>T HbVar substitution intron 1 HbVar.2598 HBA2:c.95+5G>A HbVar substitution intron 1 HbVar.2600 HBA2:c.95+55G>A HbVar substitution intron 1 HbVar.2601 HBB:c.-106G>C HbVar substitution not within known transcription unit 1 HbVar.2602 HBB:c.315+1G>T HbVar substitution intron 1 HbVar.2603 HBB:c.319C>G HbVar substitution exon 1 HbVar.2604 HBB:c.169G>T HbVar substitution exon 1 HbVar.2605 HBA2:c.4G>C HbVar substitution exon 1 HbVar.2606 HBA2:c.64G>T HbVar substitution exon 1 HbVar.2607 HBA1:c.167T>C HbVar substitution exon 1 HbVar.2608 HBA1:c.247G>A HbVar substitution exon 1 HbVar.2609 HBA1:c.370G>C HbVar substitution exon 1 HbVar.2610 HBA2:c.23A>G HbVar substitution exon 1 HbVar.2611 HBA1:c.88C>G HbVar substitution exon 1 HbVar.2612 HBA2:c.352T>A HbVar substitution exon 1 HbVar.2613 HBA1:c.262C>G HbVar substitution exon 1 HbVar.2614 HBA1:c.95+5G>A HbVar substitution intron 1 HbVar.2615 HBD:c.14C>G HbVar substitution exon 1 HbVar.2616 HBB:c.254C>A HbVar substitution exon 1 HbVar.2617 HBG2:c.293A>G HbVar substitution exon 1 HbVar.2618 HBG2:c.238G>C HbVar substitution exon 1 HbVar.2619 HBB:c.352C>G HbVar substitution exon 1 HbVar.2620 HBA2:c.130T>A HbVar substitution exon 1 HbVar.2621 HBA2:c.123G>C HbVar substitution exon 1 HbVar.2622 HBA1:c.396delT HbVar deletion exon 1 HbVar.2623 HBA1:c.404delC HbVar deletion exon 1 HbVar.2624 HBA2:c.233C>T HbVar substitution exon 1 HbVar.2625 HBD:c.179A>T HbVar substitution exon 1 HbVar.2626 HBA1:c.256G>C HbVar substitution exon 1 HbVar.2627 HBA2:c.158C>T HbVar substitution exon 1 HbVar.2628 HBB:c.157G>T HbVar substitution exon 1 HbVar.2629 HBG2:c.308A>C HbVar substitution exon 1 HbVar.2631 HBB:c.70G>A HbVar substitution exon 1 HbVar.2632 HBA1:c.412A>C HbVar substitution exon 1 HbVar.2633 HBB:c.441_442insTA HbVar insertion exon 1 HbVar.2634 HBA1:c.139T>G (or HBA2) HbVar substitution exon 1 HbVar.2635 HBA1:c.10T>C (or HBA2) HbVar substitution exon 1 HbVar.2636 HBA1:c.146T>C (or HBA2) HbVar substitution exon 1 HbVar.2637 HBA1:c.271A>G (or HBA2) HbVar substitution exon 1 HbVar.2638 HBA1:c.320T>C HbVar substitution exon 1 HbVar.2639 HBA1:c.266C>A (or HBA2) HbVar substitution exon 1 HbVar.2640 HBA1:c.296T>A (or HBA2) HbVar substitution exon 1 HbVar.2641 HBA1:c.4G>T HbVar substitution exon 1 HbVar.2642 HBA2:c.343C>A HbVar substitution exon 1 HbVar.2643 HBA2:c.14C>G HbVar substitution exon 1 HbVar.2644 HBB:c.407C>T HbVar substitution exon 1 HbVar.2645 HBA2:c.254G>A HbVar substitution exon 1 HbVar.2647 HBB:c.400G>A HbVar substitution exon 1 HbVar.2649 HBA1:c.224A>T HbVar substitution exon 1 HbVar.2650 HBA1:c.[404C>G (or HBA2) or 403A>T (or HBA2)] HbVar substitution exon 1 HbVar.2651 HBG1:c.396G>T HbVar substitution exon 1 HbVar.2652 HBG1:c.67G>A HbVar substitution exon 1 HbVar.2653 HBG2:c.304G>C HbVar substitution exon 1 HbVar.2654 HBB:c.122G>T HbVar substitution exon 1 HbVar.2656 HBD:c.315+1G>A HbVar substitution intron 1 HbVar.2659 HBD:c.3G>A HbVar substitution exon 1 HbVar.2661 HBA2:c.274C>T HbVar substitution exon 1 HbVar.2662 HBB:c.368T>C HbVar substitution exon 1 HbVar.2663 HBB:c.67_78delGAAGTTGGTGGT HbVar deletion exon 1 HbVar.2664 HBB:c.428_429delCC HbVar deletion exon 1 HbVar.2665 HBA1:c.214G>A (or HBA2) HbVar substitution exon 1 HbVar.2666 HBB:c.131A>G HbVar substitution exon 1 HbVar.2667 HBA1:c.86C>T HbVar substitution exon 1 HbVar.2668 HBB:c.[19G>A ;295G>A] HbVar substitution exon 1 HbVar.2669 HBA2:c.151C>T (or HBA1) HbVar substitution exon 1 HbVar.2670 HBA2:c.332C>T (or HBA1) HbVar substitution exon 1 HbVar.2671 HBA2:c.343C>G (or HBA1) HbVar substitution exon 1 HbVar.2672 HBB:c.176C>A HbVar substitution exon 1 HbVar.2673 HBA1:c.63C>A HbVar substitution exon 1 HbVar.2674 HBA1:c.205A>T (or HBA2) HbVar substitution exon 1 HbVar.2675 HBA1:c.115A>G (or HBA2) HbVar substitution exon 1 HbVar.2676 HBD:c.120G>C HbVar substitution exon 1 HbVar.2677 HBB:c.17C>T HbVar substitution exon 1 HbVar.2678 HBA1:c.347C>T HbVar substitution exon 1 HbVar.2679 HBA1:c.397G>A HbVar substitution exon 1 HbVar.2680 HBD:c.224G>A HbVar substitution exon 1 HbVar.2681 HBD:c.24G>C HbVar substitution exon 1 HbVar.2682 HBB:c.13A>C HbVar substitution exon 1 HbVar.2683 HBB:c.10C>A HbVar substitution exon 1 HbVar.2685 HBD:c.7C>A HbVar substitution exon 1 HbVar.2686 HBD:c.157G>C HbVar substitution exon 1 HbVar.2688 HBD:c.244C>T HbVar substitution exon 1 HbVar.2690 HBB:c.69A>T HbVar substitution exon 1 HbVar.2691 HBB:c.106T>C HbVar substitution exon 1 HbVar.2692 HBB:c.128T>G HbVar substitution exon 1 HbVar.2693 HBB:c.173A>G HbVar substitution exon 1 HbVar.2694 HBB:c.356T>C HbVar substitution exon 1 HbVar.2695 HBA2:c.212T>G HbVar substitution exon 1 HbVar.2696 HBA1:c.259C>G HbVar substitution exon 1 HbVar.2697 HBA2:c.350A>T HbVar substitution exon 1 HbVar.2698 HBA2:c.382A>G HbVar substitution exon 1 HbVar.2700 HBB:c.-138C>G HbVar substitution not within known transcription unit 1 HbVar.2701 HBB:c.-121C>T HbVar substitution not within known transcription unit 1 HbVar.2702 HBB:c.-80T>G HbVar substitution not within known transcription unit 1 HbVar.2703 HBB:c.18_19delTG HbVar deletion exon 1 HbVar.2705 HBB:c.219_220insT HbVar insertion exon 1 HbVar.2706 HBB:c.315+2_315+13delTGAGTCTATGGG HbVar deletion intron 1 HbVar.2707 HBB:c.316-70C>G HbVar substitution intron 1 HbVar.2708 HBG1:c.-250C>T HbVar substitution not within known transcription unit 1 HbVar.2709 HBG2:c.-250C>T HbVar substitution not within known transcription unit 1 HbVar.2710 HBB:c.-100G>A HbVar substitution not within known transcription unit 1 HbVar.2711 HBB:c.-76A>C HbVar substitution not within known transcription unit 1 HbVar.2713 HBB:c.319_330delCTGGGCAACGTG HbVar deletion exon 1 HbVar.2714 HBB:c.345_346insTGTGCTG HbVar insertion exon 1 HbVar.2715 HBB:c.354delC HbVar deletion exon 1 HbVar.2716 HBB:c.376_381delCCAGTG HbVar deletion exon 1 HbVar.2717 HBB:c.393T>A HbVar substitution exon 1 HbVar.2718 HBB:c.394_395insA HbVar insertion exon 1 HbVar.2720 HBB:c.*+112A>T HbVar substitution 3' UTR 1 HbVar.2721 HBB:c.*+111_*+112delAA HbVar deletion 3' UTR 1 HbVar.2722 HBA1:c.*+96G>A HbVar substitution 3' UTR 1 HbVar.2723 HBA1:c.315C>G HbVar substitution exon 1 HbVar.2724 HBA1:c.327delC HbVar deletion exon 1 HbVar.2725 HBA1:c.333_345delCGCCCACCTCCCC HbVar deletion exon 1 HbVar.2726 HBA2:c.112delC HbVar deletion exon 1 HbVar.2727 HBA2:c.66_67insT HbVar insertion exon 1 HbVar.2728 HBA2:c.143delA HbVar deletion exon 1 HbVar.2729 HBA2:c.156_157insG HbVar insertion exon 1 HbVar.2730 HBA2:c.190_231del HbVar deletion exon 1 HbVar.2731 chr16:g.(?_103,625)_163,701_193,676)del(Build GRCh37) HbVar deletion not within known transcription unit 1 HbVar.2732 HBA2:c.305T>C HbVar substitution exon 1 HbVar.2733 HBB:c.91A>C HbVar substitution exon 1 HbVar.2734 HBA2:c.95G>A HbVar substitution exon 1 HbVar.2735 HBB:c.375_376insA HbVar insertion exon 1 HbVar.2736 HBA1:c.189delG HbVar deletion exon 1 HbVar.2737 HBA2:c.44G>T HbVar substitution exon 1 HbVar.2738 HBB:c.-528_251del HbVar deletion not within known transcription unit 1 HbVar.2740 HBD:c.434A>C HbVar substitution exon 1 HbVar.2741 HBA2:c.292A>G HbVar substitution exon 1 HbVar.2742 HBA2:c.65C>T HbVar substitution exon 1 HbVar.2743 HBA1:c.9_10insCTG HbVar insertion exon 1 HbVar.2744 HBA1:c.55G>T HbVar substitution exon 1 HbVar.2746 HBD:c.272A>G HbVar substitution exon 1 HbVar.2747 HBA2:c.257A>G HbVar substitution exon 1 HbVar.2748 HBA2:c.368A>T HbVar substitution exon 1 HbVar.2749 HBA1:c.332C>T HbVar substitution exon 1 HbVar.2750 HBA2:c.75T>G HbVar substitution exon 1 HbVar.2751 HBA1:c.289G>C HbVar substitution exon 1 HbVar.2752 HBA1:c.215C>T HbVar substitution exon 1 HbVar.2753 HBB:c.11T>C HbVar substitution exon 1 HbVar.2754 HBA2:c.337C>T HbVar substitution exon 1 HbVar.2756 HBA2:c.8T>C HbVar substitution exon 1 HbVar.2757 HBA2:c.191C>T HbVar substitution exon 1 HbVar.2758 HBD:c.359G>A HbVar substitution exon 1 HbVar.2759 HBA2:c.264C>G HbVar substitution exon 1 HbVar.2760 HBB:c.433A>T HbVar substitution exon 1 HbVar.2761 HBA1:c.46G>T HbVar substitution exon 1 HbVar.2762 HBA2:c.337C>A HbVar substitution exon 1 HbVar.2763 HBA2:c.265G>A HbVar substitution exon 1 HbVar.2764 HBA2:c.71A>C HbVar substitution exon 1 HbVar.2765 HBA2:c.346_348delGCC HbVar deletion exon 1 HbVar.2766 HBA2:c.300G>C HbVar substitution exon 1 HbVar.2768 HBA2:c.11C>G HbVar substitution exon 1 HbVar.2769 HBA2:c.259C>G HbVar substitution exon 1 HbVar.2770 HBB:c.79G>C HbVar substitution exon 1 HbVar.2771 HBA2:c.112C>T HbVar substitution exon 1 HbVar.2772 HBB:c.49G>T HbVar substitution exon 1 HbVar.2775 HBA2:c.289G>A HbVar substitution exon 1 HbVar.2776 HBA2:c.91_93delGAG HbVar deletion exon 1 HbVar.2777 HBD:c.247A>T HbVar substitution exon 1 HbVar.2778 HBA1:c.95+45G>C HbVar substitution intron 1 HbVar.2779 HBA2:c.140T>C HbVar substitution exon 1 HbVar.2780 HBA1:c.339C>A HbVar substitution exon 1 HbVar.2781 HBD:c.19G>C HbVar substitution exon 1 HbVar.2782 HBB:c.[20A>T ;317T>C] HbVar substitution exon 1 HbVar.2783 HBA1:c.44G>T HbVar substitution exon 1 HbVar.2784 HBA1:c.98T>A HbVar substitution exon 1 HbVar.2785 HBB:c.[20A>T ;26A>C] HbVar substitution exon 1 HbVar.2788 HBG1:c.358G>A HbVar substitution exon 1 HbVar.2790 HBG2:c.241G>T HbVar substitution exon 1 HbVar.2791 HBB:c.24G>T HbVar substitution exon 1 HbVar.2792 HBA2:c.22A>C HbVar substitution exon 1 HbVar.2794 HBA2:c.23A>C HbVar substitution exon 1 HbVar.2795 HBA1:c.128A>C HbVar substitution exon 1 HbVar.2796 HBA1:c.40G>A HbVar substitution exon 1 HbVar.2797 HBB:c.241A>C HbVar substitution exon 1 HbVar.2798 HBB:c.[202G>A ;126C>G] HbVar substitution exon 1 HbVar.2800 HBA1:c.62_63insT HbVar insertion exon 1 HbVar.2801 HBA2:c.271A>C HbVar substitution exon 1 HbVar.2802 HBB:c.404T>G HbVar substitution exon 1 HbVar.2803 HBA2:c.270C>G HbVar substitution exon 1 HbVar.2804 HBB:c.241A>G HbVar substitution exon 1 HbVar.2806 HBD:c.430C>T HbVar substitution exon 1 HbVar.2807 NG_000007.3:g.42946_70654del HbVar complex not within known transcription unit 1 HbVar.2808 HBB:c.119delA HbVar deletion exon 1 HbVar.2809 HBG2:c.440A>G HbVar substitution exon 1 HbVar.2810 HBG2:c.280T>C HbVar substitution exon 1 HbVar.2811 HBG1:c.365A>T HbVar substitution exon 1 HbVar.2812 HBA1:p.[Gln55His (or HBA2) or Gln55His (or HBA2)] HbVar substitution exon 1 HbVar.2813 HBA1:c.[258C>A (or HBA2) or 258C>G (or HBA2)] HbVar substitution exon 1 HbVar.2814 HBB:c.301C>A HbVar substitution exon 1 HbVar.2815 HBB:c.22G>C HbVar substitution exon 1 HbVar.2816 HBB:c.218G>C HbVar substitution exon 1 HbVar.2817 HBA1:c.95G>C HbVar substitution exon 1 HbVar.2818 HBB:c.[81G>C or 81G>T] HbVar substitution exon 1 HbVar.2819 HBB:c.317T>C HbVar substitution exon 1 HbVar.2820 HBB:c.232C>A HbVar substitution exon 1 HbVar.2822 HBB:c.313A>G HbVar substitution exon 1 HbVar.2823 HBB:c.148_166delinsAGCT HbVar complex exon 1 HbVar.2825 HBA1:c.380A>C HbVar substitution exon 1 HbVar.2826 HBA2:c.178G>A HbVar substitution exon 1 HbVar.2827 HBB:c.358G>C HbVar substitution exon 1 HbVar.2828 HBB:c.314G>T HbVar substitution exon 1 HbVar.2829 HBB:c.347C>T HbVar substitution exon 1 HbVar.2830 HBB:c.301C>T HbVar substitution exon 1 HbVar.2832 HBA2:c.323delT HbVar deletion exon 1 HbVar.2833 HBD:c.89G>A HbVar substitution exon 1 HbVar.2834 HBA2:c.69_77delCGAGTATGG HbVar deletion exon 1 HbVar.2835 HBB:c.270T>A HbVar substitution exon 1 HbVar.2836 HBB:c.[20A>T ;196A>G] HbVar substitution exon 1 HbVar.2837 HBB:c.282T>G HbVar substitution exon 1 HbVar.2838 HBB:c.281G>C HbVar substitution exon 1 HbVar.2839 HBB:c.244C>T HbVar substitution exon 1 HbVar.2840 HBA2:c.191C>T HbVar substitution exon 1 ADAbase_D0001:g.29885G>A D0001:g.29885G>A ADAbase substitution exon 1 ADAbase_D0001:g.1135C>T D0001:g.1135C>T ADAbase substitution exon 1 ADAbase_D0001:g.28910G>A D0001:g.28910G>A ADAbase substitution exon 1 ADAbase_D0001:g.28910G>T D0001:g.28910G>T ADAbase substitution exon 1 ADAbase_D0001:g.32891C>T D0001:g.32891C>T ADAbase substitution exon 1 ADAbase_D0001:g.28937C>A D0001:g.28937C>A ADAbase substitution exon 1 ADAbase_D0001:g.28979A>G D0001:g.28979A>G ADAbase substitution exon 1 ADAbase_D0001:g.2430_5678del D0001:g.2430_5678del ADAbase deletion not within known transcription unit 1 ADAbase_D0001:g.32461G>A D0001:g.32461G>A ADAbase substitution exon 1 ADAbase_D0001:g.29003delA D0001:g.29003delA ADAbase deletion exon 1 ADAbase_D0001:g.29827delG D0001:g.29827delG ADAbase deletion exon 1 ADAbase_D0001:g.29879G>A D0001:g.29879G>A ADAbase substitution exon 1 ADAbase_D0001:g.29884C>T D0001:g.29884C>T ADAbase substitution exon 1 ADAbase_D0001:g.29927G>A D0001:g.29927G>A ADAbase substitution exon 1 ADAbase_D0001:g.27156G>A D0001:g.27156G>A ADAbase substitution exon 1 ADAbase_D0001:g.29831delG D0001:g.29831delG ADAbase deletion exon 1 ADAbase_D0001:g.32497G>A D0001:g.32497G>A ADAbase substitution intron 1 ADAbase_D0001:g.32592C>T D0001:g.32592C>T ADAbase substitution exon 1 ADAbase_D0001:g.30148G>A D0001:g.30148G>A ADAbase substitution exon 1 ADAbase_D0001:g.28906A>G D0001:g.28906A>G ADAbase substitution intron 1 ADAbase_D0001:g.32874T>A D0001:g.32874T>A ADAbase substitution intron 1 ADAbase_D0001:g.32874_32885delinsA D0001:g.32874_32885delinsA ADAbase complex intron 1 AICDAbase_D0002:g.6292_6310del D0002:g.6292_6310del AICDAbase deletion exon 1 AICDAbase_D0002:g.6302T>C D0002:g.6302T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.7876_7877insT D0002:g.7876_7877insT AICDAbase insertion exon 1 AICDAbase_D0002:g.6341C>T D0002:g.6341C>T AICDAbase substitution exon 1 AICDAbase_D0002:g.6398T>C D0002:g.6398T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.7816C>T D0002:g.7816C>T AICDAbase substitution exon 1 AICDAbase_D0002:g.7822G>A D0002:g.7822G>A AICDAbase substitution exon 1 AICDAbase_D0002:g.7909T>C D0002:g.7909T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.7826_7834delTGCTCTTCC D0002:g.7826_7834delTGCTCTTCC AICDAbase deletion exon 1 AICDAbase_D0002:g.7853G>A D0002:g.7853G>A AICDAbase substitution exon 1 AICDAbase_D0002:g.7885_7893delACCTGGTTC D0002:g.7885_7893delACCTGGTTC AICDAbase deletion exon 1 AICDAbase_D0002:g.7888T>C D0002:g.7888T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.7902G>A D0002:g.7902G>A AICDAbase substitution exon 1 AICDAbase_D0002:g.7988T>C D0002:g.7988T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.7943T>G D0002:g.7943T>G AICDAbase substitution exon 1 AICDAbase_D0002:g.7967T>C D0002:g.7967T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.7984C>T D0002:g.7984C>T AICDAbase substitution exon 1 AICDAbase_D0002:g.8956delC D0002:g.8956delC AICDAbase deletion exon 1 AICDAbase_D0002:g.7985G>A D0002:g.7985G>A AICDAbase substitution exon 1 AICDAbase_D0002:g.8014G>T D0002:g.8014G>T AICDAbase substitution exon 1 AICDAbase_D0002:g.8057T>A D0002:g.8057T>A AICDAbase substitution exon 1 AICDAbase_D0002:g.8065A>G D0002:g.8065A>G AICDAbase substitution exon 1 AICDAbase_D0002:g.8384C>A D0002:g.8384C>A AICDAbase substitution exon 1 AICDAbase_D0002:g.8395T>C D0002:g.8395T>C AICDAbase substitution exon 1 AICDAbase_D0002:g.8465A>C D0002:g.8465A>C AICDAbase substitution exon 1 AICDAbase_D0002:g.8980C>T D0002:g.8980C>T AICDAbase substitution exon 1 AICDAbase_D0002:g.6428G>T D0002:g.6428G>T AICDAbase substitution intron 1 AICDAbase_D0002:g.8954A>G D0002:g.8954A>G AICDAbase substitution intron 1 AICDAbase_D0002:g.8487G>C D0002:g.8487G>C AICDAbase substitution intron 1 AIREbase_D0003:g.4707A>T D0003:g.4707A>T AIREbase substitution exon 1 AIREbase_D0003:g.8473C>T D0003:g.8473C>T AIREbase substitution exon 1 AIREbase_D0003:g.4749C>T D0003:g.4749C>T AIREbase substitution exon 1 AIREbase_D0003:g.4750G>T D0003:g.4750G>T AIREbase substitution exon 1 AIREbase_D0003:g.9882_9894del D0003:g.9882_9894del AIREbase deletion exon 1 AIREbase_D0003:g.4749_4750ins D0003:g.4749_4750ins AIREbase insertion exon 1 AIREbase_D0003:g.4753C>T D0003:g.4753C>T AIREbase substitution exon 1 AIREbase_D0003:g.5356T>A D0003:g.5356T>A AIREbase substitution exon 1 AIREbase_D0003:g.4770_4775delGTGGAC D0003:g.4770_4775delGTGGAC AIREbase deletion exon 1 AIREbase_D0003:g.4789T>C D0003:g.4789T>C AIREbase substitution exon 1 AIREbase_D0003:g.11846delC D0003:g.11846delC AIREbase deletion exon 1 AIREbase_D0003:g.4792T>C D0003:g.4792T>C AIREbase substitution exon 1 AIREbase_D0003:g.11692G>C D0003:g.11692G>C AIREbase substitution intron 1 AIREbase_D0003:g.5315_5350del D0003:g.5315_5350del AIREbase deletion exon 1 AIREbase_D0003:g.5332_5333insCAGG D0003:g.5332_5333insCAGG AIREbase insertion exon 1 AIREbase_D0003:g.5354T>C D0003:g.5354T>C AIREbase substitution exon 1 AIREbase_D0003:g.9915G>T D0003:g.9915G>T AIREbase substitution intron 1 AIREbase_D0003:g.5356T>C D0003:g.5356T>C AIREbase substitution exon 1 AIREbase_D0003:g.11078C>T D0003:g.11078C>T AIREbase substitution exon 1 AIREbase_D0003:g.8459C>T D0003:g.8459C>T AIREbase substitution exon 1 AIREbase_D0003:g.5371A>G D0003:g.5371A>G AIREbase substitution exon 1 AIREbase_D0003:g.5393A>G D0003:g.5393A>G AIREbase substitution exon 1 AIREbase_D0003:g.5402T>G D0003:g.5402T>G AIREbase substitution exon 1 AIREbase_D0003:g.5785C>T D0003:g.5785C>T AIREbase substitution exon 1 AIREbase_D0003:g.6270C>T D0003:g.6270C>T AIREbase substitution exon 1 AIREbase_D0003:g.11692G>A D0003:g.11692G>A AIREbase substitution intron 1 AIREbase_D0003:g.7046delG D0003:g.7046delG AIREbase deletion exon 1 AIREbase_D0003:g.7113C>T D0003:g.7113C>T AIREbase substitution exon 1 AIREbase_D0003:g.8386G>T D0003:g.8386G>T AIREbase substitution exon 1 AIREbase_D0003:g.16426A>T D0003:g.16426A>T AIREbase substitution exon 1 AIREbase_D0003:g.11839_11840insA D0003:g.11839_11840insA AIREbase insertion exon 1 AIREbase_D0003:g.9892C>T D0003:g.9892C>T AIREbase substitution exon 1 AIREbase_D0003:g.8350_8352delCTC D0003:g.8350_8352delCTC AIREbase deletion intron 1 AIREbase_D0003:g.4839G>C D0003:g.4839G>C AIREbase substitution intron 1 AIREbase_D0003:g.4843delG D0003:g.4843delG AIREbase deletion intron 1 AIREbase_D0003:g.9846delT D0003:g.9846delT AIREbase deletion exon 1 AIREbase_D0003:g.9816G>A D0003:g.9816G>A AIREbase substitution exon 1 AIREbase_D0003:g.9823G>C D0003:g.9823G>C AIREbase substitution exon 1 AIREbase_D0003:g.11861delC D0003:g.11861delC AIREbase deletion exon 1 AIREbase_D0003:g.12506delinsAC D0003:g.12506delinsAC AIREbase complex exon 1 AIREbase_D0003:g.9884_9885insCCTG D0003:g.9884_9885insCCTG AIREbase insertion exon 1 AIREbase_D0003:g.11074_11075dupCCCGG D0003:g.11074_11075dupCCCGG AIREbase duplication exon 1 AIREbase_D0003:g.15091delG D0003:g.15091delG AIREbase deletion exon 1 AIREbase_D0003:g.11700_11701insC D0003:g.11700_11701insC AIREbase insertion exon 1 AIREbase_D0003:g.12504_12505insAC D0003:g.12504_12505insAC AIREbase insertion exon 1 AIREbase_D0003:g.12554delinsTT D0003:g.12554delinsTT AIREbase complex exon 1 AIREbase_D0003:g.12611G>A D0003:g.12611G>A AIREbase substitution intron 1 AIREbase_D0003:g.16404C>T D0003:g.16404C>T AIREbase substitution exon 1 AIREbase_D0003:g.5835T>C D0003:g.5835T>C AIREbase substitution intron 1 AP3B1base_D0103:g.28101_28104delAGAG D0103:g.28101_28104delAGAG AP3B1base deletion exon 1 AP3B1base_D0103:g.114127A>T D0103:g.114127A>T AP3B1base substitution exon 1 AP3B1base_D0103:g.119856_119857delinsTATCAATATC D0103:g.119856_119857delinsTATCAATATC AP3B1base complex exon 1 AP3B1base_D0103:g.166503dupA D0103:g.166503dupA AP3B1base duplication exon 1 AP3B1base_D0103:g.180242_180866del D0103:g.180242_180866del AP3B1base deletion intron 1 AP3B1base_D0103:g.147279_155450del D0103:g.147279_155450del AP3B1base deletion intron 1 BIRC4base_D0120:g.26757delC D0120:g.26757delC BIRC4base deletion exon 1 BIRC4base_D0120:g.26775C>T D0120:g.26775C>T BIRC4base substitution exon 1 BIRC4base_D0120:g.26817G>T D0120:g.26817G>T BIRC4base substitution exon 1 BIRC4base_D0120:g.27028G>A D0120:g.27028G>A BIRC4base substitution exon 1 BIRC4base_D0120:g.27333dupT D0120:g.27333dupT BIRC4base duplication exon 1 BIRC4base_D0120:g.32060C>T D0120:g.32060C>T BIRC4base substitution exon 1 BIRC4base_D0120:g.32082A>G D0120:g.32082A>G BIRC4base substitution exon 1 BIRC4base_D0120:g.47898A>T D0120:g.47898A>T BIRC4base substitution exon 1 BIRC4base_D0120:g.47935C>G D0120:g.47935C>G BIRC4base substitution exon 1 BIRC4base_D0120:g.47971T>A D0120:g.47971T>A BIRC4base substitution exon 1 BLMbase_D0004:g.33139delA D0004:g.33139delA BLMbase deletion exon 1 BLMbase_D0004:g.33175C>A D0004:g.33175C>A BLMbase substitution exon 1 BLMbase_D0004:g.77907G>C D0004:g.77907G>C BLMbase substitution exon 1 BLMbase_D0004:g.33421_33423delCAA D0004:g.33421_33423delCAA BLMbase deletion exon 1 BLMbase_D0004:g.44513dupA D0004:g.44513dupA BLMbase duplication exon 1 BLMbase_D0004:g.46754G>T D0004:g.46754G>T BLMbase substitution intron 1 BLMbase_D0004:g.33445_33446delTT D0004:g.33445_33446delTT BLMbase deletion exon 1 BLMbase_D0004:g.33445dupT D0004:g.33445dupT BLMbase duplication exon 1 BLMbase_D0004:g.33636_33637delCT D0004:g.33636_33637delCT BLMbase deletion exon 1 BLMbase_D0004:g.35397A>T D0004:g.35397A>T BLMbase substitution exon 1 BLMbase_D0004:g.43878A>G D0004:g.43878A>G BLMbase substitution intron 1 BLMbase_D0004:g.38438_38442delAAAGA D0004:g.38438_38442delAAAGA BLMbase deletion exon 1 BLMbase_D0004:g.77771delG D0004:g.77771delG BLMbase deletion exon 1 BLMbase_D0004:g.44611C>T D0004:g.44611C>T BLMbase substitution exon 1 BLMbase_D0004:g.44670G>A D0004:g.44670G>A BLMbase substitution exon 1 BLMbase_D0004:g.43745A>T D0004:g.43745A>T BLMbase substitution exon 1 BLMbase_D0004:g.46612C>T D0004:g.46612C>T BLMbase substitution exon 1 BLMbase_D0004:g.44253G>A D0004:g.44253G>A BLMbase substitution exon 1 BLMbase_D0004:g.44315delC D0004:g.44315delC BLMbase deletion exon 1 BLMbase_D0004:g.44597T>A D0004:g.44597T>A BLMbase substitution exon 1 BLMbase_D0004:g.44856G>A D0004:g.44856G>A BLMbase substitution intron 1 BLMbase_D0004:g.44753C>A D0004:g.44753C>A BLMbase substitution exon 1 BLMbase_D0004:g.50562_50563insAAAT D0004:g.50562_50563insAAAT BLMbase insertion exon 1 BLMbase_D0004:g.68579C>T D0004:g.68579C>T BLMbase substitution exon 1 BLMbase_D0004:g.81798dupA D0004:g.81798dupA BLMbase duplication exon 1 BLMbase_D0004:g.48915C>T D0004:g.48915C>T BLMbase substitution exon 1 BLMbase_D0004:g.74344delC D0004:g.74344delC BLMbase deletion exon 1 BLMbase_D0004:g.81836delT D0004:g.81836delT BLMbase deletion exon 1 BLMbase_D0004:g.68549C>T D0004:g.68549C>T BLMbase substitution exon 1 BLMbase_D0004:g.46647dupG D0004:g.46647dupG BLMbase duplication exon 1 BLMbase_D0004:g.46694A>G D0004:g.46694A>G BLMbase substitution exon 1 BLMbase_D0004:g.43741A>G D0004:g.43741A>G BLMbase substitution intron 1 BLMbase_D0004:g.77934A>T D0004:g.77934A>T BLMbase substitution exon 1 BLMbase_D0004:g.87233_87234delTT D0004:g.87233_87234delTT BLMbase deletion exon 1 BLMbase_D0004:g.77956A>T D0004:g.77956A>T BLMbase substitution intron 1 BLMbase_D0004:g.50519_50524delinsTAGATTC D0004:g.50519_50524delinsTAGATTC BLMbase complex exon 1 BLMbase_D0004:g.77902delT D0004:g.77902delT BLMbase deletion exon 1 BLMbase_D0004:g.68526G>A D0004:g.68526G>A BLMbase substitution exon 1 BLMbase_D0004:g.31087G>T D0004:g.31087G>T BLMbase substitution intron 1 BLMbase_D0004:g.53034dupT D0004:g.53034dupT BLMbase duplication exon 1 BLMbase_D0004:g.87268T>A D0004:g.87268T>A BLMbase substitution exon 1 BLMbase_D0004:g.53133_53134delAG D0004:g.53133_53134delAG BLMbase deletion exon 1 BLMbase_D0004:g.77940G>A D0004:g.77940G>A BLMbase substitution exon 1 BLMbase_D0004:g.53115dupA D0004:g.53115dupA BLMbase duplication exon 1 BLMbase_D0004:g.87885delA D0004:g.87885delA BLMbase deletion exon 1 BLMbase_D0004:g.66505G>A D0004:g.66505G>A BLMbase substitution exon 1 BLMbase_D0004:g.87173C>T D0004:g.87173C>T BLMbase substitution exon 1 BLMbase_D0004:g.68556G>A D0004:g.68556G>A BLMbase substitution exon 1 BLMbase_D0004:g.68675C>T D0004:g.68675C>T BLMbase substitution exon 1 BLMbase_D0004:g.77850G>T D0004:g.77850G>T BLMbase substitution exon 1 BLMbase_D0004:g.74276G>T D0004:g.74276G>T BLMbase substitution exon 1 BLMbase_D0004:g.74308C>T D0004:g.74308C>T BLMbase substitution exon 1 BLMbase_D0004:g.77861C>T D0004:g.77861C>T BLMbase substitution exon 1 BLMbase_D0004:g.81830_81831insT D0004:g.81830_81831insT BLMbase insertion exon 1 BLMbase_D0004:g.81853C>G D0004:g.81853C>G BLMbase substitution exon 1 BLMbase_D0004:g.87791delG D0004:g.87791delG BLMbase deletion exon 1 BLMbase_D0004:g.87931dupA D0004:g.87931dupA BLMbase duplication exon 1 BLMbase_D0004:g.92828C>T D0004:g.92828C>T BLMbase substitution exon 1 BLMbase_D0004:g.49012T>G D0004:g.49012T>G BLMbase substitution intron 1 BLMbase_D0004:g.52829T>G D0004:g.52829T>G BLMbase substitution intron 1 BLMbase_D0004:g.87317G>A D0004:g.87317G>A BLMbase substitution intron 1 BLMbase_D0004:g.52612_60602del D0004:g.52612_60602del BLMbase deletion not within known transcription unit 1 BLMbase_D0004:g.73168_74750del D0004:g.73168_74750del BLMbase deletion not within known transcription unit 1 BLNKbase_D0005:g.10199A>T D0005:g.10199A>T BLNKbase substitution intron 1 BTKbase_U78027.1:g.46199G>T U78027.1:g.46199G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46198T>C U78027.1:g.46198T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46197A>G U78027.1:g.46197A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46167_46945del U78027.1:g.46167_46945del BTKbase deletion not within known transcription unit 1 BTKbase_U78027.1:g.46211_46223del U78027.1:g.46211_46223del BTKbase deletion exon 1 BTKbase_U78027.1:g.46208dupG U78027.1:g.46208dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.46210_46235del U78027.1:g.46210_46235del BTKbase deletion exon 1 BTKbase_U78027.1:g.46225T>A U78027.1:g.46225T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46228T>C U78027.1:g.46228T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46226dupT U78027.1:g.46226dupT BTKbase duplication exon 1 BTKbase_U78027.1:g.46231A>G U78027.1:g.46231A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46233C>T U78027.1:g.46233C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46237C>T U78027.1:g.46237C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46237C>A U78027.1:g.46237C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46237_46239delCCC U78027.1:g.46237_46239delCCC BTKbase deletion exon 1 BTKbase_U78027.1:g.46239C>T U78027.1:g.46239C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46241delA U78027.1:g.46241delA BTKbase deletion exon 1 BTKbase_U78027.1:g.46245A>G U78027.1:g.46245A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46251A>G U78027.1:g.46251A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46251A>T U78027.1:g.46251A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46258C>A U78027.1:g.46258C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46259delA U78027.1:g.46259delA BTKbase deletion exon 1 BTKbase_U78027.1:g.46270T>C U78027.1:g.46270T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46276A>G U78027.1:g.46276A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46910C>T U78027.1:g.46910C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.60726A>G U78027.1:g.60726A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.60733C>T U78027.1:g.60733C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.60788T>C U78027.1:g.60788T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46278C>T U78027.1:g.46278C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46280C>T U78027.1:g.46280C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46279G>A U78027.1:g.46279G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46279G>T U78027.1:g.46279G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46279G>C U78027.1:g.46279G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46278C>A U78027.1:g.46278C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46283_46295del U78027.1:g.46283_46295del BTKbase deletion exon 1 BTKbase_U78027.1:g.46288T>C U78027.1:g.46288T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46291T>C U78027.1:g.46291T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46291T>G U78027.1:g.46291T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46294C>T U78027.1:g.46294C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46293A>C U78027.1:g.46293A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46306T>C U78027.1:g.46306T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46305_46306delCT U78027.1:g.46305_46306delCT BTKbase deletion exon 1 BTKbase_U78027.1:g.46312A>G U78027.1:g.46312A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46311T>A U78027.1:g.46311T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46312A>C U78027.1:g.46312A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46313C>A U78027.1:g.46313C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46315A>G U78027.1:g.46315A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.46314T>A U78027.1:g.46314T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46315_46337del U78027.1:g.46315_46337del BTKbase deletion exon 1 BTKbase_U78027.1:g.46314_46315delTA U78027.1:g.46314_46315delTA BTKbase deletion exon 1 BTKbase_U78027.1:g.46322delT U78027.1:g.46322delT BTKbase deletion exon 1 BTKbase_U78027.1:g.46322_46323insA U78027.1:g.46322_46323insA BTKbase insertion exon 1 BTKbase_U78027.1:g.46333_46335delinsTT U78027.1:g.46333_46335delinsTT BTKbase complex exon 1 BTKbase_U78027.1:g.46335delG U78027.1:g.46335delG BTKbase deletion exon 1 BTKbase_U78027.1:g.46337delG U78027.1:g.46337delG BTKbase deletion exon 1 BTKbase_U78027.1:g.46847_46852delAGAAGA U78027.1:g.46847_46852delAGAAGA BTKbase deletion exon 1 BTKbase_U78027.1:g.46847_46851delAGAAG U78027.1:g.46847_46851delAGAAG BTKbase deletion exon 1 BTKbase_U78027.1:g.46847_46848delAG U78027.1:g.46847_46848delAG BTKbase deletion exon 1 BTKbase_U78027.1:g.46861delG U78027.1:g.46861delG BTKbase deletion exon 1 BTKbase_U78027.1:g.46858dupT U78027.1:g.46858dupT BTKbase duplication exon 1 BTKbase_U78027.1:g.46864delG U78027.1:g.46864delG BTKbase deletion exon 1 BTKbase_U78027.1:g.60746G>T U78027.1:g.60746G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46865delG U78027.1:g.46865delG BTKbase deletion exon 1 BTKbase_U78027.1:g.46872T>C U78027.1:g.46872T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46876_46877delTG U78027.1:g.46876_46877delTG BTKbase deletion exon 1 BTKbase_U78027.1:g.46879dupT U78027.1:g.46879dupT BTKbase duplication exon 1 BTKbase_U78027.1:g.46881_46883delAGA U78027.1:g.46881_46883delAGA BTKbase deletion exon 1 BTKbase_U78027.1:g.46883_46885delAAG U78027.1:g.46883_46885delAAG BTKbase deletion exon 1 BTKbase_U78027.1:g.46887T>A U78027.1:g.46887T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46887T>C U78027.1:g.46887T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.46889delA U78027.1:g.46889delA BTKbase deletion exon 1 BTKbase_U78027.1:g.46896T>A U78027.1:g.46896T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.46895G>T U78027.1:g.46895G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.46903_46904delAG U78027.1:g.46903_46904delAG BTKbase deletion exon 1 BTKbase_U78027.1:g.46920delA U78027.1:g.46920delA BTKbase deletion exon 1 BTKbase_U78027.1:g.46919_46920delinsT U78027.1:g.46919_46920delinsT BTKbase complex exon 1 BTKbase_U78027.1:g.46920dupA U78027.1:g.46920dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.46931_46934delGAAA U78027.1:g.46931_46934delGAAA BTKbase deletion exon 1 BTKbase_U78027.1:g.46937C>T U78027.1:g.46937C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.49781_49785delAGAAG U78027.1:g.49781_49785delAGAAG BTKbase deletion exon 1 BTKbase_U78027.1:g.49809delA U78027.1:g.49809delA BTKbase deletion exon 1 BTKbase_U78027.1:g.49809_49810dupAAATGGA U78027.1:g.49809_49810dupAAATGGA BTKbase duplication exon 1 BTKbase_U78027.1:g.49811C>T U78027.1:g.49811C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.49832T>G U78027.1:g.49832T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.49840T>G U78027.1:g.49840T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.49848A>G U78027.1:g.49848A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.51403_51404delGT U78027.1:g.51403_51404delGT BTKbase deletion exon 1 BTKbase_U78027.1:g.51404delT U78027.1:g.51404delT BTKbase deletion exon 1 BTKbase_U78027.1:g.51406delG U78027.1:g.51406delG BTKbase deletion exon 1 BTKbase_U78027.1:g.51412delG U78027.1:g.51412delG BTKbase deletion exon 1 BTKbase_U78027.1:g.51425T>G U78027.1:g.51425T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.51427T>C U78027.1:g.51427T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.51429C>A U78027.1:g.51429C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.51429C>G U78027.1:g.51429C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.51431T>A U78027.1:g.51431T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.51434_51436delTCT U78027.1:g.51434_51436delTCT BTKbase deletion exon 1 BTKbase_U78027.1:g.51434_51435delinsGA U78027.1:g.51434_51435delinsGA BTKbase complex exon 1 BTKbase_U78027.1:g.51433_51440delTTCTCCCC U78027.1:g.51433_51440delTTCTCCCC BTKbase deletion exon 1 BTKbase_U78027.1:g.51437C>T U78027.1:g.51437C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.51442A>C U78027.1:g.51442A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.51465G>T U78027.1:g.51465G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.51463T>C U78027.1:g.51463T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.51464G>A U78027.1:g.51464G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.51465G>A U78027.1:g.51465G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.51466_51467ins47 U78027.1:g.51466_51467ins47 BTKbase insertion exon 1 BTKbase_U78027.1:g.51474G>C U78027.1:g.51474G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.51478delA U78027.1:g.51478delA BTKbase deletion exon 1 BTKbase_U78027.1:g.60894C>T U78027.1:g.60894C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.51481delA U78027.1:g.51481delA BTKbase deletion exon 1 BTKbase_U78027.1:g.58791delC U78027.1:g.58791delC BTKbase deletion exon 1 BTKbase_U78027.1:g.58796C>A U78027.1:g.58796C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58796delC U78027.1:g.58796delC BTKbase deletion exon 1 BTKbase_U78027.1:g.58807_58808dupACAGTGATCT U78027.1:g.58807_58808dupACAGTGATCT BTKbase duplication exon 1 BTKbase_U78027.1:g.58815A>T U78027.1:g.58815A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.58820T>A U78027.1:g.58820T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58820T>G U78027.1:g.58820T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.58825delC U78027.1:g.58825delC BTKbase deletion exon 1 BTKbase_U78027.1:g.58829C>A U78027.1:g.58829C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58835G>A U78027.1:g.58835G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58836_58839delATCG U78027.1:g.58836_58839delATCG BTKbase deletion exon 1 BTKbase_U78027.1:g.58844dupG U78027.1:g.58844dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.58849A>G U78027.1:g.58849A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.58854T>G U78027.1:g.58854T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.58855G>C U78027.1:g.58855G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.58855G>A U78027.1:g.58855G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58857T>G U78027.1:g.58857T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.58857T>C U78027.1:g.58857T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.58858G>A U78027.1:g.58858G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58865_58881delinsTGGTC U78027.1:g.58865_58881delinsTGGTC BTKbase complex exon 1 BTKbase_U78027.1:g.58864dupA U78027.1:g.58864dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.58866_58869delACAG U78027.1:g.58866_58869delACAG BTKbase deletion exon 1 BTKbase_U78027.1:g.58871_58872insT U78027.1:g.58871_58872insT BTKbase insertion exon 1 BTKbase_U78027.1:g.58876dupA U78027.1:g.58876dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.58888G>A U78027.1:g.58888G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.58890C>T U78027.1:g.58890C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.58904_58905insG U78027.1:g.58904_58905insG BTKbase insertion exon 1 BTKbase_U78027.1:g.58906_58910delGGAAT U78027.1:g.58906_58910delGGAAT BTKbase deletion exon 1 BTKbase_U78027.1:g.58907dupG U78027.1:g.58907dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.59238dupT U78027.1:g.59238dupT BTKbase duplication exon 1 BTKbase_U78027.1:g.59260delG U78027.1:g.59260delG BTKbase deletion exon 1 BTKbase_U78027.1:g.59264A>C U78027.1:g.59264A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.59271_59272delinsC U78027.1:g.59271_59272delinsC BTKbase complex exon 1 BTKbase_U78027.1:g.59266delA U78027.1:g.59266delA BTKbase deletion exon 1 BTKbase_U78027.1:g.59271_59272delinsT U78027.1:g.59271_59272delinsT BTKbase complex exon 1 BTKbase_U78027.1:g.59271dupA U78027.1:g.59271dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.59275_59278delTCTT U78027.1:g.59275_59278delTCTT BTKbase deletion exon 1 BTKbase_U78027.1:g.59279delC U78027.1:g.59279delC BTKbase deletion exon 1 BTKbase_U78027.1:g.59291G>T U78027.1:g.59291G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.59302G>C U78027.1:g.59302G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.59300C>T U78027.1:g.59300C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.60719_60720dupCTACATAG U78027.1:g.60719_60720dupCTACATAG BTKbase duplication exon 1 BTKbase_U78027.1:g.60719_60720insATACATAG U78027.1:g.60719_60720insATACATAG BTKbase insertion exon 1 BTKbase_U78027.1:g.60739delC U78027.1:g.60739delC BTKbase deletion exon 1 BTKbase_U78027.1:g.60739_60741delinsTGGTG U78027.1:g.60739_60741delinsTGGTG BTKbase complex exon 1 BTKbase_U78027.1:g.60743_60744delTG U78027.1:g.60743_60744delTG BTKbase deletion exon 1 BTKbase_U78027.1:g.60773_60776delTGAG U78027.1:g.60773_60776delTGAG BTKbase deletion exon 1 BTKbase_U78027.1:g.60751delC U78027.1:g.60751delC BTKbase deletion exon 1 BTKbase_U78027.1:g.60772delG U78027.1:g.60772delG BTKbase deletion exon 1 BTKbase_U78027.1:g.60773_60774delTG U78027.1:g.60773_60774delTG BTKbase deletion exon 1 BTKbase_U78027.1:g.60772_60907del U78027.1:g.60772_60907del BTKbase deletion exon 1 BTKbase_U78027.1:g.60783delA U78027.1:g.60783delA BTKbase deletion exon 1 BTKbase_U78027.1:g.60784delA U78027.1:g.60784delA BTKbase deletion exon 1 BTKbase_U78027.1:g.60786delG U78027.1:g.60786delG BTKbase deletion exon 1 BTKbase_U78027.1:g.60787_60792delinsCC U78027.1:g.60787_60792delinsCC BTKbase complex exon 1 BTKbase_U78027.1:g.60800T>G U78027.1:g.60800T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.60802delA U78027.1:g.60802delA BTKbase deletion exon 1 BTKbase_U78027.1:g.60813delinsGT U78027.1:g.60813delinsGT BTKbase complex exon 1 BTKbase_U78027.1:g.60816_60825del U78027.1:g.60816_60825del BTKbase deletion exon 1 BTKbase_U78027.1:g.60816_60817insTTAC U78027.1:g.60816_60817insTTAC BTKbase insertion exon 1 BTKbase_U78027.1:g.60831C>T U78027.1:g.60831C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.60841_60844delAGGG U78027.1:g.60841_60844delAGGG BTKbase deletion exon 1 BTKbase_U78027.1:g.60845delT U78027.1:g.60845delT BTKbase deletion exon 1 BTKbase_U78027.1:g.60846delG U78027.1:g.60846delG BTKbase deletion exon 1 BTKbase_U78027.1:g.60849G>T U78027.1:g.60849G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.60857dupT U78027.1:g.60857dupT BTKbase duplication exon 1 BTKbase_U78027.1:g.60861delT U78027.1:g.60861delT BTKbase deletion exon 1 BTKbase_U78027.1:g.60862T>A U78027.1:g.60862T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.60870delA U78027.1:g.60870delA BTKbase deletion exon 1 BTKbase_U78027.1:g.60871delG U78027.1:g.60871delG BTKbase deletion exon 1 BTKbase_U78027.1:g.60877T>A U78027.1:g.60877T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.60884G>A U78027.1:g.60884G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.60886G>A U78027.1:g.60886G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.60887G>A U78027.1:g.60887G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.61326C>T U78027.1:g.61326C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.61329delinsTTA U78027.1:g.61329delinsTTA BTKbase complex exon 1 BTKbase_U78027.1:g.61351delA U78027.1:g.61351delA BTKbase deletion exon 1 BTKbase_U78027.1:g.61357delC U78027.1:g.61357delC BTKbase deletion exon 1 BTKbase_U78027.1:g.61365delG U78027.1:g.61365delG BTKbase deletion exon 1 BTKbase_U78027.1:g.61377G>T U78027.1:g.61377G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.61386G>T U78027.1:g.61386G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.61386_61389delGAGT U78027.1:g.61386_61389delGAGT BTKbase deletion exon 1 BTKbase_U78027.1:g.62131G>A U78027.1:g.62131G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.62142delA U78027.1:g.62142delA BTKbase deletion exon 1 BTKbase_U78027.1:g.62144_62145delAT U78027.1:g.62144_62145delAT BTKbase deletion exon 1 BTKbase_U78027.1:g.62151G>A U78027.1:g.62151G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.62150C>T U78027.1:g.62150C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.62150_62153delCGGA U78027.1:g.62150_62153delCGGA BTKbase deletion exon 1 BTKbase_U78027.1:g.62165C>T U78027.1:g.62165C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.62169T>C U78027.1:g.62169T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.62172T>C U78027.1:g.62172T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.62173delA U78027.1:g.62173delA BTKbase deletion exon 1 BTKbase_U78027.1:g.62177C>T U78027.1:g.62177C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.62779_62858del U78027.1:g.62779_62858del BTKbase deletion exon 1 BTKbase_U78027.1:g.62785_62787delGAA U78027.1:g.62785_62787delGAA BTKbase deletion exon 1 BTKbase_U78027.1:g.62789G>A U78027.1:g.62789G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.62788G>A U78027.1:g.62788G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.62787_62789delAGG U78027.1:g.62787_62789delAGG BTKbase deletion exon 1 BTKbase_U78027.1:g.62790_62792delAGG U78027.1:g.62790_62792delAGG BTKbase deletion exon 1 BTKbase_U78027.1:g.62800_62801delGT U78027.1:g.62800_62801delGT BTKbase deletion exon 1 BTKbase_U78027.1:g.62803A>G U78027.1:g.62803A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62804G>A U78027.1:g.62804G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.62805A>G U78027.1:g.62805A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62804G>C U78027.1:g.62804G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.62808C>G U78027.1:g.62808C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62806_62807delGA U78027.1:g.62806_62807delGA BTKbase deletion exon 1 BTKbase_U78027.1:g.62821delG U78027.1:g.62821delG BTKbase deletion exon 1 BTKbase_U78027.1:g.62826A>G U78027.1:g.62826A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62826delA U78027.1:g.62826delA BTKbase deletion exon 1 BTKbase_U78027.1:g.62829T>G U78027.1:g.62829T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62830A>G U78027.1:g.62830A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62831_62832delCA U78027.1:g.62831_62832delCA BTKbase deletion exon 1 BTKbase_U78027.1:g.62834T>G U78027.1:g.62834T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.62837C>T U78027.1:g.62837C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.62836T>C U78027.1:g.62836T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.62836_62837delTC U78027.1:g.62836_62837delTC BTKbase deletion exon 1 BTKbase_U78027.1:g.62840T>C U78027.1:g.62840T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.62841_62842delGT U78027.1:g.62841_62842delGT BTKbase deletion exon 1 BTKbase_U78027.1:g.63038_63165del U78027.1:g.63038_63165del BTKbase deletion exon 1 BTKbase_U78027.1:g.63039delG U78027.1:g.63039delG BTKbase deletion exon 1 BTKbase_U78027.1:g.63040_63052del U78027.1:g.63040_63052del BTKbase deletion exon 1 BTKbase_U78027.1:g.63045C>T U78027.1:g.63045C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63058_63065delGTCATTAT U78027.1:g.63058_63065delGTCATTAT BTKbase deletion exon 1 BTKbase_U78027.1:g.63060C>T U78027.1:g.63060C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63064A>C U78027.1:g.63064A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.63072T>G U78027.1:g.63072T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63074T>A U78027.1:g.63074T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.63080_63081dupCACA U78027.1:g.63080_63081dupCACA BTKbase duplication exon 1 BTKbase_U78027.1:g.63090C>T U78027.1:g.63090C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63100T>C U78027.1:g.63100T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.63100T>G U78027.1:g.63100T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63102G>C U78027.1:g.63102G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.63105G>T U78027.1:g.63105G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63107dupG U78027.1:g.63107dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.63127T>A U78027.1:g.63127T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.63135C>T U78027.1:g.63135C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63142delA U78027.1:g.63142delA BTKbase deletion exon 1 BTKbase_U78027.1:g.63145A>G U78027.1:g.63145A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63144T>G U78027.1:g.63144T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63146C>A U78027.1:g.63146C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.63144_63146delTAC U78027.1:g.63144_63146delTAC BTKbase deletion exon 1 BTKbase_U78027.1:g.63149T>G U78027.1:g.63149T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63148A>G U78027.1:g.63148A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63150C>T U78027.1:g.63150C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63151dupA U78027.1:g.63151dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.63153C>G U78027.1:g.63153C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63154A>C U78027.1:g.63154A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.63156A>T U78027.1:g.63156A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63163C>A U78027.1:g.63163C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.63165G>T U78027.1:g.63165G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63892_63904del U78027.1:g.63892_63904del BTKbase deletion exon 1 BTKbase_U78027.1:g.63894C>T U78027.1:g.63894C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63895_63896delTC U78027.1:g.63895_63896delTC BTKbase deletion exon 1 BTKbase_U78027.1:g.63899A>G U78027.1:g.63899A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63900T>C U78027.1:g.63900T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.63903A>G U78027.1:g.63903A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63911A>C U78027.1:g.63911A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.63914T>G U78027.1:g.63914T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63920_63921dup U78027.1:g.63920_63921dup BTKbase duplication exon 1 BTKbase_U78027.1:g.63924C>T U78027.1:g.63924C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63927C>T U78027.1:g.63927C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63934_63936delinsTT U78027.1:g.63934_63936delinsTT BTKbase complex exon 1 BTKbase_U78027.1:g.63942delC U78027.1:g.63942delC BTKbase deletion exon 1 BTKbase_U78027.1:g.63945_63949delTCCAC U78027.1:g.63945_63949delTCCAC BTKbase deletion exon 1 BTKbase_U78027.1:g.63955dupG U78027.1:g.63955dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.63962A>G U78027.1:g.63962A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.63960G>T U78027.1:g.63960G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.63965C>A U78027.1:g.63965C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.63964dupA U78027.1:g.63964dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.64526G>A U78027.1:g.64526G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64541delA U78027.1:g.64541delA BTKbase deletion exon 1 BTKbase_U78027.1:g.64545_64548delCCTG U78027.1:g.64545_64548delCCTG BTKbase deletion exon 1 BTKbase_U78027.1:g.64547T>C U78027.1:g.64547T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.64552_64554delTTC U78027.1:g.64552_64554delTTC BTKbase deletion exon 1 BTKbase_U78027.1:g.64561_64563delGAG U78027.1:g.64561_64563delGAG BTKbase deletion exon 1 BTKbase_U78027.1:g.64565T>C U78027.1:g.64565T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.64568_64569insA U78027.1:g.64568_64569insA BTKbase insertion exon 1 BTKbase_U78027.1:g.64569dupG U78027.1:g.64569dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.64582G>A U78027.1:g.64582G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64594T>C U78027.1:g.64594T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.64598G>A U78027.1:g.64598G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64597G>A U78027.1:g.64597G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64605G>A U78027.1:g.64605G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64617C>A U78027.1:g.64617C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64620delC U78027.1:g.64620delC BTKbase deletion exon 1 BTKbase_U78027.1:g.64628T>A U78027.1:g.64628T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.64630A>G U78027.1:g.64630A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.64631A>G U78027.1:g.64631A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.64630A>T U78027.1:g.64630A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.64663G>T U78027.1:g.64663G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.64677A>C U78027.1:g.64677A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.64688delT U78027.1:g.64688delT BTKbase deletion exon 1 BTKbase_U78027.1:g.65207G>A U78027.1:g.65207G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65212T>C U78027.1:g.65212T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65213_65214delTT U78027.1:g.65213_65214delTT BTKbase deletion exon 1 BTKbase_U78027.1:g.65218A>G U78027.1:g.65218A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65220G>T U78027.1:g.65220G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65232C>T U78027.1:g.65232C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65236T>A U78027.1:g.65236T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65240_65241delTG U78027.1:g.65240_65241delTG BTKbase deletion exon 1 BTKbase_U78027.1:g.65242G>A U78027.1:g.65242G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65242G>T U78027.1:g.65242G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65249C>A U78027.1:g.65249C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65253A>T U78027.1:g.65253A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65275_65277delTCA U78027.1:g.65275_65277delTCA BTKbase deletion exon 1 BTKbase_U78027.1:g.65283T>G U78027.1:g.65283T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65285delC U78027.1:g.65285delC BTKbase deletion exon 1 BTKbase_U78027.1:g.65287T>G U78027.1:g.65287T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65312C>A U78027.1:g.65312C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65314T>C U78027.1:g.65314T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65314_65315delTG U78027.1:g.65314_65315delTG BTKbase deletion exon 1 BTKbase_U78027.1:g.65319G>T U78027.1:g.65319G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65324_65327delGCGC U78027.1:g.65324_65327delGCGC BTKbase deletion exon 1 BTKbase_U78027.1:g.65323_65326delTGCG U78027.1:g.65323_65326delTGCG BTKbase deletion exon 1 BTKbase_U78027.1:g.65333delC U78027.1:g.65333delC BTKbase deletion exon 1 BTKbase_U78027.1:g.65337C>T U78027.1:g.65337C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65343C>T U78027.1:g.65343C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65346C>T U78027.1:g.65346C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65355G>T U78027.1:g.65355G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65359T>C U78027.1:g.65359T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65363C>A U78027.1:g.65363C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65362G>T U78027.1:g.65362G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65363C>G U78027.1:g.65363C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65368A>T U78027.1:g.65368A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65368delA U78027.1:g.65368delA BTKbase deletion exon 1 BTKbase_U78027.1:g.65374G>T U78027.1:g.65374G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65373T>C U78027.1:g.65373T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65374G>A U78027.1:g.65374G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65380C>A U78027.1:g.65380C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65384G>A U78027.1:g.65384G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65384G>T U78027.1:g.65384G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65383T>C U78027.1:g.65383T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65382A>G U78027.1:g.65382A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65382dupA U78027.1:g.65382dupA BTKbase duplication exon 1 BTKbase_U78027.1:g.65388T>A U78027.1:g.65388T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65390C>A U78027.1:g.65390C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65388_65389dupGAAT U78027.1:g.65388_65389dupGAAT BTKbase duplication exon 1 BTKbase_U78027.1:g.65392T>C U78027.1:g.65392T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65392T>A U78027.1:g.65392T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65410T>G U78027.1:g.65410T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65415C>G U78027.1:g.65415C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65416G>A U78027.1:g.65416G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65415C>T U78027.1:g.65415C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.65419A>G U78027.1:g.65419A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.65418G>C U78027.1:g.65418G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.65418G>A U78027.1:g.65418G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.65422T>C U78027.1:g.65422T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66782C>T U78027.1:g.66782C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.66781_66845del U78027.1:g.66781_66845del BTKbase deletion exon 1 BTKbase_U78027.1:g.66780_66781dupACTACAG U78027.1:g.66780_66781dupACTACAG BTKbase duplication exon 1 BTKbase_U78027.1:g.66782C>A U78027.1:g.66782C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.66784G>C U78027.1:g.66784G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66787C>G U78027.1:g.66787C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.66788G>C U78027.1:g.66788G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66788G>A U78027.1:g.66788G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.66787C>T U78027.1:g.66787C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.66792C>G U78027.1:g.66792C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.66793T>A U78027.1:g.66793T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.66794G>T U78027.1:g.66794G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.66795_66798delTTTG U78027.1:g.66795_66798delTTTG BTKbase deletion exon 1 BTKbase_U78027.1:g.66793_66794delTG U78027.1:g.66793_66794delTG BTKbase deletion exon 1 BTKbase_U78027.1:g.66802delA U78027.1:g.66802delA BTKbase deletion exon 1 BTKbase_U78027.1:g.66811delG U78027.1:g.66811delG BTKbase deletion exon 1 BTKbase_U78027.1:g.66817G>T U78027.1:g.66817G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.66816dupT U78027.1:g.66816dupT BTKbase duplication exon 1 BTKbase_U78027.1:g.66824T>A U78027.1:g.66824T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.66826T>C U78027.1:g.66826T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66828delT U78027.1:g.66828delT BTKbase deletion exon 1 BTKbase_U78027.1:g.66833T>C U78027.1:g.66833T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66832_66841del U78027.1:g.66832_66841del BTKbase deletion exon 1 BTKbase_U78027.1:g.66836G>A U78027.1:g.66836G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.66839T>C U78027.1:g.66839T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66844A>G U78027.1:g.66844A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.66845G>A U78027.1:g.66845G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67487G>T U78027.1:g.67487G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.66845G>C U78027.1:g.66845G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.66844delA U78027.1:g.66844delA BTKbase deletion exon 1 BTKbase_U78027.1:g.67492T>C U78027.1:g.67492T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67495_67496dupATGTCCT U78027.1:g.67495_67496dupATGTCCT BTKbase duplication exon 1 BTKbase_U78027.1:g.67506T>C U78027.1:g.67506T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67516C>G U78027.1:g.67516C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.67523_67544del U78027.1:g.67523_67544del BTKbase deletion exon 1 BTKbase_U78027.1:g.67527A>T U78027.1:g.67527A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67531T>C U78027.1:g.67531T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67537_67538delinsA U78027.1:g.67537_67538delinsA BTKbase complex exon 1 BTKbase_U78027.1:g.67540G>T U78027.1:g.67540G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67540G>C U78027.1:g.67540G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67539C>T U78027.1:g.67539C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67539_67540delinsT U78027.1:g.67539_67540delinsT BTKbase complex exon 1 BTKbase_U78027.1:g.67543G>T U78027.1:g.67543G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67543G>A U78027.1:g.67543G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67549C>T U78027.1:g.67549C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67548C>A U78027.1:g.67548C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67551C>T U78027.1:g.67551C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67553delG U78027.1:g.67553delG BTKbase deletion exon 1 BTKbase_U78027.1:g.67551_67552insT U78027.1:g.67551_67552insT BTKbase insertion exon 1 BTKbase_U78027.1:g.67556A>C U78027.1:g.67556A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67554G>A U78027.1:g.67554G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67554delG U78027.1:g.67554delG BTKbase deletion exon 1 BTKbase_U78027.1:g.67561T>C U78027.1:g.67561T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67566_67570delTATAG U78027.1:g.67566_67570delTATAG BTKbase deletion exon 1 BTKbase_U78027.1:g.67566delT U78027.1:g.67566delT BTKbase deletion exon 1 BTKbase_U78027.1:g.67568_67569insTA U78027.1:g.67568_67569insTA BTKbase insertion exon 1 BTKbase_U78027.1:g.67570_67571insTA U78027.1:g.67570_67571insTA BTKbase insertion exon 1 BTKbase_U78027.1:g.67579G>T U78027.1:g.67579G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67580C>A U78027.1:g.67580C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67585A>T U78027.1:g.67585A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67588C>A U78027.1:g.67588C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67590G>A U78027.1:g.67590G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67591A>T U78027.1:g.67591A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67596T>C U78027.1:g.67596T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67597G>C U78027.1:g.67597G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67598G>A U78027.1:g.67598G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67600C>A U78027.1:g.67600C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67600C>T U78027.1:g.67600C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67600delC U78027.1:g.67600delC BTKbase deletion exon 1 BTKbase_U78027.1:g.67603T>C U78027.1:g.67603T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.67604delT U78027.1:g.67604delT BTKbase deletion exon 1 BTKbase_U78027.1:g.67605G>A U78027.1:g.67605G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.67605G>T U78027.1:g.67605G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68127G>T U78027.1:g.68127G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.67605delG U78027.1:g.67605delG BTKbase deletion exon 1 BTKbase_U78027.1:g.68133A>C U78027.1:g.68133A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68134T>C U78027.1:g.68134T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68138G>T U78027.1:g.68138G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68136T>C U78027.1:g.68136T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68137G>A U78027.1:g.68137G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68138G>A U78027.1:g.68138G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68138_68140delGGA U78027.1:g.68138_68140delGGA BTKbase deletion exon 1 BTKbase_U78027.1:g.68141A>T U78027.1:g.68141A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68140A>G U78027.1:g.68140A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68139G>A U78027.1:g.68139G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68142A>T U78027.1:g.68142A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68142delA U78027.1:g.68142delA BTKbase deletion exon 1 BTKbase_U78027.1:g.68146A>C U78027.1:g.68146A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68147C>A U78027.1:g.68147C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68148T>C U78027.1:g.68148T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68149C>A U78027.1:g.68149C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68155G>A U78027.1:g.68155G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68154G>A U78027.1:g.68154G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68154G>C U78027.1:g.68154G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68156delG U78027.1:g.68156delG BTKbase deletion exon 1 BTKbase_U78027.1:g.68163C>A U78027.1:g.68163C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68167A>G U78027.1:g.68167A>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68166T>G U78027.1:g.68166T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68167A>C U78027.1:g.68167A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68168T>G U78027.1:g.68168T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68172A>T U78027.1:g.68172A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68184_68185delAG U78027.1:g.68184_68185delAG BTKbase deletion exon 1 BTKbase_U78027.1:g.68186_68187insGACAGT U78027.1:g.68186_68187insGACAGT BTKbase insertion exon 1 BTKbase_U78027.1:g.68190A>C U78027.1:g.68190A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68194C>A U78027.1:g.68194C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68209A>C U78027.1:g.68209A>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68208C>T U78027.1:g.68208C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68208delC U78027.1:g.68208delC BTKbase deletion exon 1 BTKbase_U78027.1:g.68212G>C U78027.1:g.68212G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68212G>A U78027.1:g.68212G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68218G>C U78027.1:g.68218G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68217C>A U78027.1:g.68217C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68220C>T U78027.1:g.68220C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68220C>A U78027.1:g.68220C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68220C>G U78027.1:g.68220C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68222_68224delCTA U78027.1:g.68222_68224delCTA BTKbase deletion exon 1 BTKbase_U78027.1:g.68229C>G U78027.1:g.68229C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68230C>T U78027.1:g.68230C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68229C>T U78027.1:g.68229C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68229C>A U78027.1:g.68229C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68237delG U78027.1:g.68237delG BTKbase deletion exon 1 BTKbase_U78027.1:g.68238G>C U78027.1:g.68238G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68242C>T U78027.1:g.68242C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68247A>T U78027.1:g.68247A>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68251T>G U78027.1:g.68251T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68253_68257delins U78027.1:g.68253_68257delins BTKbase complex exon 1 BTKbase_U78027.1:g.68255_68256insCA U78027.1:g.68255_68256insCA BTKbase insertion exon 1 BTKbase_U78027.1:g.68263T>C U78027.1:g.68263T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68261_68262dup U78027.1:g.68261_68262dup BTKbase duplication exon 1 BTKbase_U78027.1:g.68263T>A U78027.1:g.68263T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68267C>G U78027.1:g.68267C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.68266_68267delAC U78027.1:g.68266_68267delAC BTKbase deletion exon 1 BTKbase_U78027.1:g.68265delT U78027.1:g.68265delT BTKbase deletion exon 1 BTKbase_U78027.1:g.68268delA U78027.1:g.68268delA BTKbase deletion exon 1 BTKbase_U78027.1:g.68272G>A U78027.1:g.68272G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68272delG U78027.1:g.68272delG BTKbase deletion exon 1 BTKbase_U78027.1:g.68275G>C U78027.1:g.68275G>C BTKbase substitution exon 1 BTKbase_U78027.1:g.68276G>A U78027.1:g.68276G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.68278delA U78027.1:g.68278delA BTKbase deletion exon 1 BTKbase_U78027.1:g.68280G>T U78027.1:g.68280G>T BTKbase substitution exon 1 BTKbase_U78027.1:g.68279_68280insTTTTAG U78027.1:g.68279_68280insTTTTAG BTKbase insertion exon 1 BTKbase_U78027.1:g.71523delA U78027.1:g.71523delA BTKbase deletion exon 1 BTKbase_U78027.1:g.71520_71521dupTTTTAG U78027.1:g.71520_71521dupTTTTAG BTKbase duplication exon 1 BTKbase_U78027.1:g.71524_71526delGCA U78027.1:g.71524_71526delGCA BTKbase deletion exon 1 BTKbase_U78027.1:g.71533C>T U78027.1:g.71533C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.71533C>G U78027.1:g.71533C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.71534G>A U78027.1:g.71534G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.71533_71539delCGTCCCA U78027.1:g.71533_71539delCGTCCCA BTKbase deletion exon 1 BTKbase_U78027.1:g.71537C>G U78027.1:g.71537C>G BTKbase substitution exon 1 BTKbase_U78027.1:g.71537_71544delCCACTTTC U78027.1:g.71537_71544delCCACTTTC BTKbase deletion exon 1 BTKbase_U78027.1:g.71540C>T U78027.1:g.71540C>T BTKbase substitution exon 1 BTKbase_U78027.1:g.71541delT U78027.1:g.71541delT BTKbase deletion exon 1 BTKbase_U78027.1:g.71544C>A U78027.1:g.71544C>A BTKbase substitution exon 1 BTKbase_U78027.1:g.71543T>C U78027.1:g.71543T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.71543T>A U78027.1:g.71543T>A BTKbase substitution exon 1 BTKbase_U78027.1:g.71552T>G U78027.1:g.71552T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.71555T>C U78027.1:g.71555T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.71564T>G U78027.1:g.71564T>G BTKbase substitution exon 1 BTKbase_U78027.1:g.71564T>C U78027.1:g.71564T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.71564delT U78027.1:g.71564delT BTKbase deletion exon 1 BTKbase_U78027.1:g.71567T>C U78027.1:g.71567T>C BTKbase substitution exon 1 BTKbase_U78027.1:g.35258A>G U78027.1:g.35258A>G BTKbase substitution not within known transcription unit 1 BTKbase_U78027.1:g.35221A>C U78027.1:g.35221A>C BTKbase substitution not within known transcription unit 1 BTKbase_U78027.1:g.46174dupG U78027.1:g.46174dupG BTKbase duplication exon 1 BTKbase_U78027.1:g.35426T>G U78027.1:g.35426T>G BTKbase substitution intron 1 BTKbase_U78027.1:g.46166G>A U78027.1:g.46166G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.35421G>C U78027.1:g.35421G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.35425G>A U78027.1:g.35425G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.35425delinsC U78027.1:g.35425delinsC BTKbase complex intron 1 BTKbase_U78027.1:g.46340_46341delAA U78027.1:g.46340_46341delAA BTKbase deletion intron 1 BTKbase_U78027.1:g.46338G>A U78027.1:g.46338G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.46845A>G U78027.1:g.46845A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.46846G>A U78027.1:g.46846G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.46339T>A U78027.1:g.46339T>A BTKbase substitution intron 1 BTKbase_U78027.1:g.46348C>T U78027.1:g.46348C>T BTKbase substitution intron 1 BTKbase_U78027.1:g.46339T>G U78027.1:g.46339T>G BTKbase substitution intron 1 BTKbase_U78027.1:g.46338G>C U78027.1:g.46338G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.46946G>A U78027.1:g.46946G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.46946delG U78027.1:g.46946delG BTKbase deletion intron 1 BTKbase_U78027.1:g.46947T>G U78027.1:g.46947T>G BTKbase substitution intron 1 BTKbase_U78027.1:g.46946G>C U78027.1:g.46946G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.46937_46951del U78027.1:g.46937_46951del BTKbase deletion intron 1 BTKbase_U78027.1:g.46945G>A U78027.1:g.46945G>A BTKbase substitution exon 1 BTKbase_U78027.1:g.49779A>G U78027.1:g.49779A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.46947T>C U78027.1:g.46947T>C BTKbase substitution intron 1 BTKbase_U78027.1:g.51402G>C U78027.1:g.51402G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.51401A>T U78027.1:g.51401A>T BTKbase substitution intron 1 BTKbase_U78027.1:g.51401A>C U78027.1:g.51401A>C BTKbase substitution intron 1 BTKbase_U78027.1:g.51401A>G U78027.1:g.51401A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.51402G>A U78027.1:g.51402G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.58784A>G U78027.1:g.58784A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.51486T>G U78027.1:g.51486T>G BTKbase substitution intron 1 BTKbase_U78027.1:g.51485G>A U78027.1:g.51485G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.58784A>C U78027.1:g.58784A>C BTKbase substitution intron 1 BTKbase_U78027.1:g.51485G>T U78027.1:g.51485G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.58785G>A U78027.1:g.58785G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.58919G>A U78027.1:g.58919G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.59234G>A U78027.1:g.59234G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.58915G>A U78027.1:g.58915G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.58919G>T U78027.1:g.58919G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.59303G>C U78027.1:g.59303G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.60711A>G U78027.1:g.60711A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.60908G>A U78027.1:g.60908G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.61324G>C U78027.1:g.61324G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.60908G>T U78027.1:g.60908G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.60909T>C U78027.1:g.60909T>C BTKbase substitution intron 1 BTKbase_U78027.1:g.61324G>A U78027.1:g.61324G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.61392G>A U78027.1:g.61392G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.61388G>A U78027.1:g.61388G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.61391A>G U78027.1:g.61391A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.61391_61394delAGTA U78027.1:g.61391_61394delAGTA BTKbase deletion intron 1 BTKbase_U78027.1:g.61389T>C U78027.1:g.61389T>C BTKbase substitution intron 1 BTKbase_U78027.1:g.62183G>A U78027.1:g.62183G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.62777delA U78027.1:g.62777delA BTKbase deletion intron 1 BTKbase_U78027.1:g.62769delinsAGGGGAAAACT U78027.1:g.62769delinsAGGGGAAAACT BTKbase complex intron 1 BTKbase_U78027.1:g.62777A>C U78027.1:g.62777A>C BTKbase substitution intron 1 BTKbase_U78027.1:g.62778G>A U78027.1:g.62778G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.62183G>C U78027.1:g.62183G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.62183G>T U78027.1:g.62183G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.62859delG U78027.1:g.62859delG BTKbase deletion intron 1 BTKbase_U78027.1:g.62862A>T U78027.1:g.62862A>T BTKbase substitution intron 1 BTKbase_U78027.1:g.62861G>T U78027.1:g.62861G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.62859G>A U78027.1:g.62859G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.62863G>T U78027.1:g.62863G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.63036A>C U78027.1:g.63036A>C BTKbase substitution intron 1 BTKbase_U78027.1:g.63890A>T U78027.1:g.63890A>T BTKbase substitution intron 1 BTKbase_U78027.1:g.63166_63176del U78027.1:g.63166_63176del BTKbase deletion intron 1 BTKbase_U78027.1:g.63166G>A U78027.1:g.63166G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.63891G>A U78027.1:g.63891G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.64518A>T U78027.1:g.64518A>T BTKbase substitution intron 1 BTKbase_U78027.1:g.63968delT U78027.1:g.63968delT BTKbase deletion intron 1 BTKbase_U78027.1:g.64519_64520delinsCT U78027.1:g.64519_64520delinsCT BTKbase complex intron 1 BTKbase_U78027.1:g.64519G>A U78027.1:g.64519G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.64512_64513insC U78027.1:g.64512_64513insC BTKbase insertion intron 1 BTKbase_U78027.1:g.63991_63992insGGTAGAAAAAA U78027.1:g.63991_63992insGGTAGAAAAAA BTKbase insertion intron 1 BTKbase_U78027.1:g.64696G>T U78027.1:g.64696G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.64696G>A U78027.1:g.64696G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.64692G>T U78027.1:g.64692G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.64697T>G U78027.1:g.64697T>G BTKbase substitution intron 1 BTKbase_U78027.1:g.64692G>A U78027.1:g.64692G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.65205A>G U78027.1:g.65205A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.65206G>A U78027.1:g.65206G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.64696G>C U78027.1:g.64696G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.64693T>C U78027.1:g.64693T>C BTKbase substitution intron 1 BTKbase_U78027.1:g.66769_66772delTTTG U78027.1:g.66769_66772delTTTG BTKbase deletion intron 1 BTKbase_U78027.1:g.65424G>T U78027.1:g.65424G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.66779A>G U78027.1:g.66779A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.66779A>C U78027.1:g.66779A>C BTKbase substitution intron 1 BTKbase_U78027.1:g.65424G>C U78027.1:g.65424G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.65424G>A U78027.1:g.65424G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.66779A>T U78027.1:g.66779A>T BTKbase substitution intron 1 BTKbase_U78027.1:g.66846G>T U78027.1:g.66846G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.66846G>C U78027.1:g.66846G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.67484C>A U78027.1:g.67484C>A BTKbase substitution intron 1 BTKbase_U78027.1:g.66850G>A U78027.1:g.66850G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.67485A>G U78027.1:g.67485A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.66846G>A U78027.1:g.66846G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.66847dupT U78027.1:g.66847dupT BTKbase duplication intron 1 BTKbase_U78027.1:g.66850G>C U78027.1:g.66850G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.68124G>A U78027.1:g.68124G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.67607_67608insT U78027.1:g.67607_67608insT BTKbase insertion intron 1 BTKbase_U78027.1:g.67610G>A U78027.1:g.67610G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.68124G>C U78027.1:g.68124G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.68124G>T U78027.1:g.68124G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.67606G>T U78027.1:g.67606G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.67606G>C U78027.1:g.67606G>C BTKbase substitution intron 1 BTKbase_U78027.1:g.67609dupA U78027.1:g.67609dupA BTKbase duplication intron 1 BTKbase_U78027.1:g.67606G>A U78027.1:g.67606G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.68123A>T U78027.1:g.68123A>T BTKbase substitution intron 1 BTKbase_U78027.1:g.68123A>G U78027.1:g.68123A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.68283G>T U78027.1:g.68283G>T BTKbase substitution intron 1 BTKbase_U78027.1:g.68283_68284insC U78027.1:g.68283_68284insC BTKbase insertion intron 1 BTKbase_U78027.1:g.68283G>A U78027.1:g.68283G>A BTKbase substitution intron 1 BTKbase_U78027.1:g.71519A>G U78027.1:g.71519A>G BTKbase substitution intron 1 BTKbase_U78027.1:g.61578_62564del U78027.1:g.61578_62564del BTKbase deletion not within known transcription unit 1 C1QAbase_D0007:g.2687C>T D0007:g.2687C>T C1QAbase substitution exon 1 C1QBbase_D0111:g.7335G>A D0111:g.7335G>A C1QBbase substitution exon 1 C1QBbase_D0111:g.8907C>T D0111:g.8907C>T C1QBbase substitution exon 1 C1QBbase_D0111:g.9108G>A D0111:g.9108G>A C1QBbase substitution exon 1 C1QCbase_D0008:g.1491G>A D0008:g.1491G>A C1QCbase substitution exon 1 C1QCbase_D0008:g.4618C>T D0008:g.4618C>T C1QCbase substitution exon 1 C1QCbase_D0008:g.4626delC D0008:g.4626delC C1QCbase deletion exon 1 C1QCbase_D0008:g.4639G>A D0008:g.4639G>A C1QCbase substitution exon 1 C1Sbase_C1S_DNA:g.5447C>G C1S_DNA:g.5447C>G C1Sbase substitution exon 1 C1Sbase_D0009:g.7961_7964delTTTG D0009:g.7961_7964delTTTG C1Sbase deletion exon 1 C1Sbase_D0009:g.10626G>T D0009:g.10626G>T C1Sbase substitution exon 1 C1Sbase_D0009:g.10404C>T D0009:g.10404C>T C1Sbase substitution exon 1 C1Sbase_C1S_DNA:g.10626G>T C1S_DNA:g.10626G>T C1Sbase substitution exon 1 C1Sbase_C1S_DNA:g.10726G>A C1S_DNA:g.10726G>A C1Sbase substitution exon 1 C2base_D0094:g.2151G>A D0094:g.2151G>A C2base substitution exon 1 C2base_D0094:g.9059G>C D0094:g.9059G>C C2base substitution exon 1 C2base_D0094:g.7326_7353del D0094:g.7326_7353del C2base deletion exon 1 C2base_D0094:g.16300G>A D0094:g.16300G>A C2base substitution exon 1 C3base_D0106:g.10970G>A D0106:g.10970G>A C3base substitution exon 1 C3base_D0106:g.10973T>C D0106:g.10973T>C C3base substitution exon 1 C3base_D0106:g.10981G>A D0106:g.10981G>A C3base substitution exon 1 C3base_D0106:g.11896G>A D0106:g.11896G>A C3base substitution exon 1 C3base_D0106:g.19119_19179del D0106:g.19119_19179del C3base deletion exon 1 C3base_D0106:g.23958C>T D0106:g.23958C>T C3base substitution exon 1 C3base_D0106:g.27182_27183insT D0106:g.27182_27183insT C3base insertion exon 1 C3base_D0106:g.28580C>G D0106:g.28580C>G C3base substitution exon 1 C3base_D0106:g.28185_28186insT D0106:g.28185_28186insT C3base insertion exon 1 C3base_D0106:g.9143G>T D0106:g.9143G>T C3base substitution intron 1 C3base_D0106:g.43362A>G D0106:g.43362A>G C3base substitution intron 1 C5base_D0107:g.1067C>T D0107:g.1067C>T C5base substitution exon 1 C5base_D0107:g.27854A>G D0107:g.27854A>G C5base substitution exon 1 C5base_D0107:g.33896_33897delinsCTCT D0107:g.33896_33897delinsCTCT C5base complex exon 1 C5base_D0107:g.88510C>T D0107:g.88510C>T C5base substitution exon 1 C6base_D0108:g.18158delC D0108:g.18158delC C6base deletion exon 1 C6base_D0108:g.40140delG D0108:g.40140delG C6base deletion exon 1 C6base_D0108:g.45142delC D0108:g.45142delC C6base deletion exon 1 C6base_D0108:g.62884delG D0108:g.62884delG C6base deletion exon 1 C6base_D0108:g.71714T>C D0108:g.71714T>C C6base substitution intron 1 C7base_D0109:g.49590G>A D0109:g.49590G>A C7base substitution exon 1 C7base_D0109:g.25832G>T D0109:g.25832G>T C7base substitution intron 1 C8Bbase_D0010:g.10088C>T D0010:g.10088C>T C8Bbase substitution exon 1 C8Bbase_D0010:g.26012C>T D0010:g.26012C>T C8Bbase substitution exon 1 C8Bbase_D0010:g.21098_21099dupGGCTGTG D0010:g.21098_21099dupGGCTGTG C8Bbase duplication exon 1 C8Bbase_D0010:g.10153delC D0010:g.10153delC C8Bbase deletion exon 1 C8Bbase_D0010:g.14868delC D0010:g.14868delC C8Bbase deletion exon 1 C8Bbase_D0010:g.10178C>T D0010:g.10178C>T C8Bbase substitution exon 1 C8Bbase_D0010:g.17378C>T D0010:g.17378C>T C8Bbase substitution exon 1 C9base_D0110:g.23357C>A D0110:g.23357C>A C9base substitution exon 1 C9base_D0110:g.24307C>T D0110:g.24307C>T C9base substitution exon 1 C9base_D0110:g.24193C>T D0110:g.24193C>T C9base substitution exon 1 C9base_D0110:g.24202T>G D0110:g.24202T>G C9base substitution exon 1 C9base_D0110:g.58679C>G D0110:g.58679C>G C9base substitution exon 1 CASP10base_D0012:g.25946C>T D0012:g.25946C>T CASP10base substitution exon 1 CASP10base_D0012:g.27207G>A D0012:g.27207G>A CASP10base substitution exon 1 CASP8base_D0013:g.19791C>T D0013:g.19791C>T CASP8base substitution exon 1 CD19base_D0112:g.5221dupA D0112:g.5221dupA CD19base duplication exon 1 CD19base_D0112:g.6679_6680delGA D0112:g.6679_6680delGA CD19base deletion exon 1 CD19base_D0112:g.5196G>T D0112:g.5196G>T CD19base substitution intron 1 CD247base_D0115:g.80235C>T D0115:g.80235C>T CD247base substitution exon 1 CD247base_D0115:g.86554_86555insC D0115:g.86554_86555insC CD247base insertion exon 1 CD3Dbase_D0014:g.2604C>T D0014:g.2604C>T CD3Dbase substitution exon 1 CD3Dbase_D0014:g.3149C>A D0014:g.3149C>A CD3Dbase substitution exon 1 CD3Dbase_D0014:g.3143A>G D0014:g.3143A>G CD3Dbase substitution intron 1 CD3Ebase_HSCD3E05:g.87G>A HSCD3E05:g.87G>A CD3Ebase substitution exon 1 CD3Ebase_HSCD3E06:g.173T>C HSCD3E06:g.173T>C CD3Ebase substitution intron 1 CD3Gbase_HSTCR3G1:g.1380A>G HSTCR3G1:g.1380A>G CD3Gbase substitution exon 1 CD3Gbase_HSTCR3G3:g.27G>C HSTCR3G3:g.27G>C CD3Gbase substitution intron 1 CD3Gbase_HSTCR3G3:g.153A>T HSTCR3G3:g.153A>T CD3Gbase substitution exon 1 CD40Lbase_D0015:g.1086C>T D0015:g.1086C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1127_1128ins D0015:g.1127_1128ins CD40Lbase insertion exon 1 CD40Lbase_D0015:g.1133T>G D0015:g.1133T>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1142delT D0015:g.1142delT CD40Lbase deletion exon 1 CD40Lbase_D0015:g.1162T>G D0015:g.1162T>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1167G>C D0015:g.1167G>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1171C>A D0015:g.1171C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1197A>T D0015:g.1197A>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1211G>A D0015:g.1211G>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.1209A>T D0015:g.1209A>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.3073_3076delATAG D0015:g.3073_3076delATAG CD40Lbase deletion exon 1 CD40Lbase_D0015:g.3074_3077delTAGA D0015:g.3074_3077delTAGA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.3082G>T D0015:g.3082G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.3100_3116del D0015:g.3100_3116del CD40Lbase deletion exon 1 CD40Lbase_D0015:g.3124C>T D0015:g.3124C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.3124_3125delCA D0015:g.3124_3125delCA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.3126_3127insT D0015:g.3126_3127insT CD40Lbase insertion exon 1 CD40Lbase_D0015:g.3132C>A D0015:g.3132C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.3142G>T D0015:g.3142G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.3158_3159insT D0015:g.3158_3159insT CD40Lbase insertion exon 1 CD40Lbase_D0015:g.3158dupT D0015:g.3158dupT CD40Lbase duplication exon 1 CD40Lbase_D0015:g.3202A>T D0015:g.3202A>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.7185delA D0015:g.7185delA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.7193dupA D0015:g.7193dupA CD40Lbase duplication exon 1 CD40Lbase_D0015:g.7210_7216delAAAGAAA D0015:g.7210_7216delAAAGAAA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.7213G>T D0015:g.7213G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.7214delA D0015:g.7214delA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.7225G>T D0015:g.7225G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.7237G>C D0015:g.7237G>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.7237G>A D0015:g.7237G>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9184C>A D0015:g.9184C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9183delG D0015:g.9183delG CD40Lbase deletion exon 1 CD40Lbase_D0015:g.9190A>G D0015:g.9190A>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9193T>C D0015:g.9193T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9193T>A D0015:g.9193T>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9192_9193insA D0015:g.9192_9193insA CD40Lbase insertion exon 1 CD40Lbase_D0015:g.9200T>A D0015:g.9200T>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9202A>G D0015:g.9202A>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.9197_9198insA D0015:g.9197_9198insA CD40Lbase insertion exon 1 CD40Lbase_D0015:g.9197_9198insG D0015:g.9197_9198insG CD40Lbase insertion exon 1 CD40Lbase_D0015:g.9211_9212insA D0015:g.9211_9212insA CD40Lbase insertion exon 1 CD40Lbase_D0015:g.11845_11846ins12 D0015:g.11845_11846ins12 CD40Lbase insertion exon 1 CD40Lbase_D0015:g.11845_11846ins9 D0015:g.11845_11846ins9 CD40Lbase insertion exon 1 CD40Lbase_D0015:g.11851C>T D0015:g.11851C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11856G>T D0015:g.11856G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11854T>G D0015:g.11854T>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11854T>C D0015:g.11854T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11855G>A D0015:g.11855G>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11860_11865delGAAAAA D0015:g.11860_11865delGAAAAA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11864A>C D0015:g.11864A>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11867G>A D0015:g.11867G>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11865_11866insA D0015:g.11865_11866insA CD40Lbase insertion exon 1 CD40Lbase_D0015:g.11871C>A D0015:g.11871C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11869_11871delTAC D0015:g.11869_11871delTAC CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11876C>A D0015:g.11876C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11880delG D0015:g.11880delG CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11880_11884delGAGCA D0015:g.11880_11884delGAGCA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11900T>C D0015:g.11900T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11906delA D0015:g.11906delA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11908delG D0015:g.11908delG CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11918T>C D0015:g.11918T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11931delA D0015:g.11931delA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11932C>T D0015:g.11932C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11935G>C D0015:g.11935G>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11935G>T D0015:g.11935G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11941T>G D0015:g.11941T>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11941T>A D0015:g.11941T>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11945A>G D0015:g.11945A>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11944_11952delTATATCTAT D0015:g.11944_11952delTATATCTAT CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11947_11949delATC D0015:g.11947_11949delATC CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11947_11948delAT D0015:g.11947_11948delAT CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11954C>A D0015:g.11954C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11957A>G D0015:g.11957A>G CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11956C>T D0015:g.11956C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11957_11958delAA D0015:g.11957_11958delAA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11963C>T D0015:g.11963C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11975delA D0015:g.11975delA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.11982_11983insATA D0015:g.11982_11983insATA CD40Lbase insertion exon 1 CD40Lbase_D0015:g.11987C>A D0015:g.11987C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11992C>T D0015:g.11992C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.11995delG D0015:g.11995delG CD40Lbase deletion exon 1 CD40Lbase_D0015:g.12013_12014insCT D0015:g.12013_12014insCT CD40Lbase insertion exon 1 CD40Lbase_D0015:g.12013_12014insCAGCC D0015:g.12013_12014insCAGCC CD40Lbase insertion exon 1 CD40Lbase_D0015:g.12020T>C D0015:g.12020T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12025delT D0015:g.12025delT CD40Lbase deletion exon 1 CD40Lbase_D0015:g.12034A>T D0015:g.12034A>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12040G>T D0015:g.12040G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12040_12041insA D0015:g.12040_12041insA CD40Lbase insertion exon 1 CD40Lbase_D0015:g.12044G>T D0015:g.12044G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12059C>A D0015:g.12059C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12072_12073delCA D0015:g.12072_12073delCA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.12090C>A D0015:g.12090C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12087_12088insT D0015:g.12087_12088insT CD40Lbase insertion exon 1 CD40Lbase_D0015:g.12094C>T D0015:g.12094C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12097C>T D0015:g.12097C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12101C>T D0015:g.12101C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12106C>T D0015:g.12106C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12113G>C D0015:g.12113G>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12116G>T D0015:g.12116G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12115G>T D0015:g.12115G>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12115_12117delGGA D0015:g.12115_12117delGGA CD40Lbase deletion exon 1 CD40Lbase_D0015:g.12119_12120insATT D0015:g.12119_12120insATT CD40Lbase insertion exon 1 CD40Lbase_D0015:g.12123T>A D0015:g.12123T>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12128T>C D0015:g.12128T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12130C>T D0015:g.12130C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12139G>C D0015:g.12139G>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12143C>A D0015:g.12143C>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12146T>A D0015:g.12146T>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12145_12146insC D0015:g.12145_12146insC CD40Lbase insertion exon 1 CD40Lbase_D0015:g.12162_12163delTG D0015:g.12162_12163delTG CD40Lbase deletion exon 1 CD40Lbase_D0015:g.12193T>A D0015:g.12193T>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12197C>T D0015:g.12197C>T CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12206G>A D0015:g.12206G>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12205G>A D0015:g.12205G>A CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12209T>C D0015:g.12209T>C CD40Lbase substitution exon 1 CD40Lbase_D0015:g.12212delT D0015:g.12212delT CD40Lbase deletion exon 1 CD40Lbase_D0015:g.865A>C D0015:g.865A>C CD40Lbase substitution not within known transcription unit 1 CD40Lbase_D0015:g.1212G>T D0015:g.1212G>T CD40Lbase substitution intron 1 CD40Lbase_D0015:g.1212G>A D0015:g.1212G>A CD40Lbase substitution intron 1 CD40Lbase_D0015:g.3068_3076delAATAGATAG D0015:g.3068_3076delAATAGATAG CD40Lbase deletion intron 1 CD40Lbase_D0015:g.3069_3076delATAGATAG D0015:g.3069_3076delATAGATAG CD40Lbase deletion intron 1 CD40Lbase_D0015:g.1213T>C D0015:g.1213T>C CD40Lbase substitution intron 1 CD40Lbase_D0015:g.3205G>T D0015:g.3205G>T CD40Lbase substitution intron 1 CD40Lbase_D0015:g.3205G>A D0015:g.3205G>A CD40Lbase substitution intron 1 CD40Lbase_D0015:g.3206T>A D0015:g.3206T>A CD40Lbase substitution intron 1 CD40Lbase_D0015:g.7241G>C D0015:g.7241G>C CD40Lbase substitution intron 1 CD40Lbase_D0015:g.7242G>T D0015:g.7242G>T CD40Lbase substitution intron 1 CD40Lbase_D0015:g.7239T>C D0015:g.7239T>C CD40Lbase substitution intron 1 CD40Lbase_D0015:g.7242G>A D0015:g.7242G>A CD40Lbase substitution intron 1 CD40Lbase_D0015:g.9162G>A D0015:g.9162G>A CD40Lbase substitution intron 1 CD40Lbase_D0015:g.7238G>T D0015:g.7238G>T CD40Lbase substitution intron 1 CD40Lbase_D0015:g.7238G>A D0015:g.7238G>A CD40Lbase substitution intron 1 CD40Lbase_D0015:g.9162G>C D0015:g.9162G>C CD40Lbase substitution intron 1 CD40Lbase_D0015:g.8248A>T D0015:g.8248A>T CD40Lbase substitution intron 1 CD40Lbase_D0015:g.9228A>T D0015:g.9228A>T CD40Lbase substitution intron 1 CD40Lbase_D0015:g.11845delG D0015:g.11845delG CD40Lbase deletion intron 1 CD40Lbase_D0015:g.9226G>C D0015:g.9226G>C CD40Lbase substitution intron 1 CD40Lbase_D0015:g.9227T>C D0015:g.9227T>C CD40Lbase substitution intron 1 CD40Lbase_D0015:g.9226G>A D0015:g.9226G>A CD40Lbase substitution intron 1 CD55base_D0104:g.2023G>A D0104:g.2023G>A CD55base substitution exon 1 CD55base_D0104:g.5132C>T D0104:g.5132C>T CD55base substitution exon 1 CD55base_D0104:g.6250C>T D0104:g.6250C>T CD55base substitution exon 1 CD55base_D0104:g.2025C>A D0104:g.2025C>A CD55base substitution exon 1 CD59base_D0016:g.20063delC D0016:g.20063delC CD59base deletion exon 1 CD79Abase_D0017:g.2924A>G D0017:g.2924A>G CD79Abase substitution intron 1 CD79Abase_D0017:g.2685G>A D0017:g.2685G>A CD79Abase substitution intron 1 CD79Bbase_D0126:g.2550G>A D0126:g.2550G>A CD79Bbase substitution exon 1 CD8Abase_D0018:g.1044G>A D0018:g.1044G>A CD8Abase substitution exon 1 CD8Abase_M27161.1:g.1044G>A M27161.1:g.1044G>A CD8Abase substitution exon 1 CEBPEbase_D0019:g.2063_2067delTGACC D0019:g.2063_2067delTGACC CEBPEbase deletion exon 1 CEBPEbase_D0019:g.2323dupA D0019:g.2323dupA CEBPEbase duplication exon 1 CEBPEbase_D0019:g.3225T>C D0019:g.3225T>C CEBPEbase substitution exon 1 CFDbase_D0027:g.317660C>A D0027:g.317660C>A CFDbase substitution exon 1 CFDbase_D0027:g.320088T>G D0027:g.320088T>G CFDbase substitution exon 1 CFDbase_D0027:g.320090T>C D0027:g.320090T>C CFDbase substitution exon 1 CFHbase_D0040:g.51581A>G D0040:g.51581A>G CFHbase substitution exon 1 CFHbase_AL049744.8:g.52398T>G AL049744.8:g.52398T>G CFHbase substitution intron 1 CFHbase_AL049744.8:g.94051T>A AL049744.8:g.94051T>A CFHbase substitution exon 1 CFHbase_AL049744.8:g.106839_106840insA AL049744.8:g.106839_106840insA CFHbase insertion exon 1 CFHbase_AL049744.8:g.119116G>T AL049744.8:g.119116G>T CFHbase substitution exon 1 CFHbase_AL049744.8:g.125619C>T AL049744.8:g.125619C>T CFHbase substitution exon 1 CFHbase_AL049744.8:g.125637T>C AL049744.8:g.125637T>C CFHbase substitution exon 1 CFHbase_AL049744.8:g.103553A>G AL049744.8:g.103553A>G CFHbase substitution exon 1 CFIbase_D0040:g.36359G>A D0040:g.36359G>A CFIbase substitution exon 1 CFIbase_D0040:g.41282G>A D0040:g.41282G>A CFIbase substitution exon 1 CFIbase_D0040:g.41345A>G D0040:g.41345A>G CFIbase substitution exon 1 CFIbase_D0040:g.42416T>G D0040:g.42416T>G CFIbase substitution exon 1 CFIbase_D0040:g.42449G>A D0040:g.42449G>A CFIbase substitution exon 1 CFIbase_D0040:g.42623G>A D0040:g.42623G>A CFIbase substitution exon 1 CFIbase_D0040:g.50480A>G D0040:g.50480A>G CFIbase substitution exon 1 CFIbase_D0040:g.53448T>C D0040:g.53448T>C CFIbase substitution exon 1 CFIbase_D0040:g.53712A>C D0040:g.53712A>C CFIbase substitution exon 1 CFIbase_D0040:g.56574A>T D0040:g.56574A>T CFIbase substitution exon 1 CFIbase_D0040:g.50471G>A D0040:g.50471G>A CFIbase substitution exon 1 CFIbase_D0040:g.50477G>T D0040:g.50477G>T CFIbase substitution exon 1 CFIbase_D0040:g.56741C>T D0040:g.56741C>T CFIbase substitution exon 1 CFIbase_D0040:g.60486G>T D0040:g.60486G>T CFIbase substitution intron 1 CFPbase_D0066:g.3781C>T D0066:g.3781C>T CFPbase substitution exon 1 CFPbase_D0066:g.3844C>T D0066:g.3844C>T CFPbase substitution exon 1 CFPbase_D0066:g.4487C>T D0066:g.4487C>T CFPbase substitution exon 1 CFPbase_D0066:g.4565C>T D0066:g.4565C>T CFPbase substitution exon 1 CFPbase_D0066:g.4761C>G D0066:g.4761C>G CFPbase substitution exon 1 CFPbase_D0066:g.4814_4815delTG D0066:g.4814_4815delTG CFPbase deletion exon 1 CFPbase_D0066:g.5121_5128delGCCTTGGG D0066:g.5121_5128delGCCTTGGG CFPbase deletion exon 1 CFPbase_D0066:g.5231G>T D0066:g.5231G>T CFPbase substitution exon 1 CFPbase_D0066:g.5552T>G D0066:g.5552T>G CFPbase substitution exon 1 CFPbase_D0066:g.5553G>C D0066:g.5553G>C CFPbase substitution exon 1 CFPbase_D0066:g.5619A>G D0066:g.5619A>G CFPbase substitution exon 1 CFPbase_D0066:g.5627C>T D0066:g.5627C>T CFPbase substitution exon 1 CIITAbase_D0058:g.31469G>T D0058:g.31469G>T CIITAbase substitution exon 1 CIITAbase_D0058:g.47354G>A D0058:g.47354G>A CIITAbase substitution intron 1 CIITAbase_D0058:g.31734T>C D0058:g.31734T>C CIITAbase substitution exon 1 CIITAbase_D0058:g.32391G>A D0058:g.32391G>A CIITAbase substitution exon 1 CIITAbase_D0058:g.35092T>C D0058:g.35092T>C CIITAbase substitution exon 1 CIITAbase_D0058:g.43309_43311delCAT D0058:g.43309_43311delCAT CIITAbase deletion exon 1 CIITAbase_D0058:g.47109_47120del D0058:g.47109_47120del CIITAbase deletion not within known transcription unit 1 CTSCbase_D0022:g.1119delG D0022:g.1119delG CTSCbase deletion exon 1 CTSCbase_D0022:g.1170C>A D0022:g.1170C>A CTSCbase substitution exon 1 CTSCbase_D0022:g.26313G>A D0022:g.26313G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.1188C>A D0022:g.1188C>A CTSCbase substitution exon 1 CTSCbase_D0022:g.1194T>G D0022:g.1194T>G CTSCbase substitution exon 1 CTSCbase_D0022:g.26278A>C D0022:g.26278A>C CTSCbase substitution exon 1 CTSCbase_D0022:g.42564G>C D0022:g.42564G>C CTSCbase substitution exon 1 CTSCbase_D0022:g.1211_1214delCCTG D0022:g.1211_1214delCCTG CTSCbase deletion exon 1 CTSCbase_D0022:g.42600G>A D0022:g.42600G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.1214G>C D0022:g.1214G>C CTSCbase substitution exon 1 CTSCbase_D0022:g.1243C>T D0022:g.1243C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.3715_3738del D0022:g.3715_3738del CTSCbase deletion exon 1 CTSCbase_D0022:g.3721C>T D0022:g.3721C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.26220A>T D0022:g.26220A>T CTSCbase substitution exon 1 CTSCbase_D0022:g.26334delT D0022:g.26334delT CTSCbase deletion exon 1 CTSCbase_D0022:g.29533_29539delCATACAT D0022:g.29533_29539delCATACAT CTSCbase deletion exon 1 CTSCbase_D0022:g.29595C>T D0022:g.29595C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.38241G>A D0022:g.38241G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.42603C>T D0022:g.42603C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.44263G>T D0022:g.44263G>T CTSCbase substitution exon 1 CTSCbase_D0022:g.44296G>A D0022:g.44296G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44274G>A D0022:g.44274G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44529G>C D0022:g.44529G>C CTSCbase substitution exon 1 CTSCbase_D0022:g.44514delC D0022:g.44514delC CTSCbase deletion exon 1 CTSCbase_D0022:g.38190G>T D0022:g.38190G>T CTSCbase substitution exon 1 CTSCbase_D0022:g.42527T>C D0022:g.42527T>C CTSCbase substitution exon 1 CTSCbase_D0022:g.26342_26343insATGT D0022:g.26342_26343insATGT CTSCbase insertion exon 1 CTSCbase_D0022:g.29522G>A D0022:g.29522G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.29554T>C D0022:g.29554T>C CTSCbase substitution exon 1 CTSCbase_D0022:g.29589dupC D0022:g.29589dupC CTSCbase duplication exon 1 CTSCbase_D0022:g.29596_29597delGA D0022:g.29596_29597delGA CTSCbase deletion exon 1 CTSCbase_D0022:g.38188G>A D0022:g.38188G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.42621G>A D0022:g.42621G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.38229G>T D0022:g.38229G>T CTSCbase substitution exon 1 CTSCbase_D0022:g.38232C>T D0022:g.38232C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.38239A>T D0022:g.38239A>T CTSCbase substitution exon 1 CTSCbase_D0022:g.42564G>A D0022:g.42564G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44608A>G D0022:g.44608A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.42606A>G D0022:g.42606A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.42605C>T D0022:g.42605C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.42629T>C D0022:g.42629T>C CTSCbase substitution exon 1 CTSCbase_D0022:g.44271G>A D0022:g.44271G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44713A>G D0022:g.44713A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.44275G>T D0022:g.44275G>T CTSCbase substitution exon 1 CTSCbase_D0022:g.44283T>A D0022:g.44283T>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44285C>A D0022:g.44285C>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44308A>G D0022:g.44308A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.44320T>G D0022:g.44320T>G CTSCbase substitution exon 1 CTSCbase_D0022:g.44641G>C D0022:g.44641G>C CTSCbase substitution exon 1 CTSCbase_D0022:g.44329A>G D0022:g.44329A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.44357_44363delTTCTCCA D0022:g.44357_44363delTTCTCCA CTSCbase deletion exon 1 CTSCbase_D0022:g.44388C>T D0022:g.44388C>T CTSCbase substitution exon 1 CTSCbase_D0022:g.44401_44402delCT D0022:g.44401_44402delCT CTSCbase deletion exon 1 CTSCbase_D0022:g.44413A>G D0022:g.44413A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.44420delA D0022:g.44420delA CTSCbase deletion exon 1 CTSCbase_D0022:g.44429delT D0022:g.44429delT CTSCbase deletion exon 1 CTSCbase_D0022:g.44660G>C D0022:g.44660G>C CTSCbase substitution exon 1 CTSCbase_D0022:g.44586C>A D0022:g.44586C>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44587A>G D0022:g.44587A>G CTSCbase substitution exon 1 CTSCbase_D0022:g.44586_44588delCAT D0022:g.44586_44588delCAT CTSCbase deletion exon 1 CTSCbase_D0022:g.44642G>A D0022:g.44642G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.44659G>A D0022:g.44659G>A CTSCbase substitution exon 1 CTSCbase_D0022:g.26216G>A D0022:g.26216G>A CTSCbase substitution intron 1 CTSCbase_D0022:g.29452G>A D0022:g.29452G>A CTSCbase substitution intron 1 CXCR4base_D0023:g.4169C>T D0023:g.4169C>T CXCR4base substitution exon 1 CXCR4base_D0023:g.4175G>T D0023:g.4175G>T CXCR4base substitution exon 1 CXCR4base_D0023:g.4182C>G D0023:g.4182C>G CXCR4base substitution exon 1 CXCR4base_D0023:g.4185_4186delCT D0023:g.4185_4186delCT CXCR4base deletion exon 1 CXCR4base_D0023:g.4190delT D0023:g.4190delT CXCR4base deletion exon 1 CXCR4base_D0023:g.4196G>T D0023:g.4196G>T CXCR4base substitution exon 1 CYBAbase_D0024:g.1030T>A D0024:g.1030T>A CYBAbase substitution exon 1 CYBAbase_D0024:g.1035C>T D0024:g.1035C>T CYBAbase substitution exon 1 CYBAbase_D0024:g.1054G>A D0024:g.1054G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.3943G>T D0024:g.3943G>T CYBAbase substitution exon 1 CYBAbase_D0024:g.1055G>A D0024:g.1055G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.3940G>A D0024:g.3940G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.3939G>A D0024:g.3939G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.3976G>A D0024:g.3976G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.8472C>T D0024:g.8472C>T CYBAbase substitution exon 1 CYBAbase_D0024:g.4890T>A D0024:g.4890T>A CYBAbase substitution exon 1 CYBAbase_D0024:g.4893T>C D0024:g.4893T>C CYBAbase substitution exon 1 CYBAbase_D0024:g.4896A>T D0024:g.4896A>T CYBAbase substitution exon 1 CYBAbase_D0024:g.4909dupG D0024:g.4909dupG CYBAbase duplication exon 1 CYBAbase_D0024:g.4902C>G D0024:g.4902C>G CYBAbase substitution exon 1 CYBAbase_D0024:g.4904dupC D0024:g.4904dupC CYBAbase duplication exon 1 CYBAbase_D0024:g.5268C>T D0024:g.5268C>T CYBAbase substitution exon 1 CYBAbase_D0024:g.4909delG D0024:g.4909delG CYBAbase deletion exon 1 CYBAbase_D0024:g.4912delG D0024:g.4912delG CYBAbase deletion exon 1 CYBAbase_D0024:g.5223delG D0024:g.5223delG CYBAbase deletion exon 1 CYBAbase_D0024:g.5246delC D0024:g.5246delC CYBAbase deletion exon 1 CYBAbase_D0024:g.5269G>A D0024:g.5269G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.5261C>G D0024:g.5261C>G CYBAbase substitution exon 1 CYBAbase_D0024:g.5261C>A D0024:g.5261C>A CYBAbase substitution exon 1 CYBAbase_D0024:g.5268C>G D0024:g.5268C>G CYBAbase substitution exon 1 CYBAbase_D0024:g.5269G>C D0024:g.5269G>C CYBAbase substitution exon 1 CYBAbase_D0024:g.5281A>G D0024:g.5281A>G CYBAbase substitution exon 1 CYBAbase_D0024:g.5845G>T D0024:g.5845G>T CYBAbase substitution exon 1 CYBAbase_D0024:g.5852_5858delGTGCCCG D0024:g.5852_5858delGTGCCCG CYBAbase deletion exon 1 CYBAbase_D0024:g.5896C>A D0024:g.5896C>A CYBAbase substitution exon 1 CYBAbase_D0024:g.5911C>A D0024:g.5911C>A CYBAbase substitution exon 1 CYBAbase_D0024:g.5926G>A D0024:g.5926G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.8471G>T D0024:g.8471G>T CYBAbase substitution exon 1 CYBAbase_D0024:g.8474G>A D0024:g.8474G>A CYBAbase substitution exon 1 CYBAbase_D0024:g.8486_8489delGAGC D0024:g.8486_8489delGAGC CYBAbase deletion exon 1 CYBAbase_D0024:g.8500delC D0024:g.8500delC CYBAbase deletion exon 1 CYBAbase_D0024:g.8509delC D0024:g.8509delC CYBAbase deletion exon 1 CYBAbase_D0024:g.8568C>A D0024:g.8568C>A CYBAbase substitution exon 1 CYBAbase_D0024:g.8573_8585del D0024:g.8573_8585del CYBAbase deletion exon 1 CYBAbase_D0024:g.8672_8705del D0024:g.8672_8705del CYBAbase deletion exon 1 CYBAbase_D0024:g.1090_1093delAGTG D0024:g.1090_1093delAGTG CYBAbase deletion intron 1 CYBAbase_D0024:g.4942G>T D0024:g.4942G>T CYBAbase substitution intron 1 CYBAbase_D0024:g.5202A>G D0024:g.5202A>G CYBAbase substitution intron 1 CYBAbase_D0024:g.5288G>A D0024:g.5288G>A CYBAbase substitution intron 1 CYBAbase_D0024:g.5830_5865del D0024:g.5830_5865del CYBAbase deletion intron 1 CYBAbase_D0024:g.5288G>T D0024:g.5288G>T CYBAbase substitution intron 1 CYBAbase_D0024:g.5927G>C D0024:g.5927G>C CYBAbase substitution intron 1 CYBBbase_D0025:g.3069_3071delinsGGT D0025:g.3069_3071delinsGGT CYBBbase complex exon 1 CYBBbase_D0025:g.12985_12986delinsAT D0025:g.12985_12986delinsAT CYBBbase complex exon 1 CYBBbase_D0025:g.16991_16992ins D0025:g.16991_16992ins CYBBbase insertion exon 1 CYBBbase_D0025:g.27416_27423delinsTGTTGTA D0025:g.27416_27423delinsTGTTGTA CYBBbase complex exon 1 CYBBbase_D0025:g.1016T>A D0025:g.1016T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.1016T>G D0025:g.1016T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.1015A>G D0025:g.1015A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.1020dupG D0025:g.1020dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.1022dupA D0025:g.1022dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.1026G>A D0025:g.1026G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.1025G>A D0025:g.1025G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.1028_1041del D0025:g.1028_1041del CYBBbase deletion exon 1 CYBBbase_D0025:g.1041delG D0025:g.1041delG CYBBbase deletion exon 1 CYBBbase_D0025:g.1040_1041dupAGGG D0025:g.1040_1041dupAGGG CYBBbase duplication exon 1 CYBBbase_D0025:g.1041dupG D0025:g.1041dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.1054delG D0025:g.1054delG CYBBbase deletion exon 1 CYBBbase_D0025:g.3026delT D0025:g.3026delT CYBBbase deletion exon 1 CYBBbase_D0025:g.3024_3025insCATT D0025:g.3024_3025insCATT CYBBbase insertion exon 1 CYBBbase_D0025:g.3028delG D0025:g.3028delG CYBBbase deletion exon 1 CYBBbase_D0025:g.3033G>C D0025:g.3033G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.3032G>A D0025:g.3032G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.3031dupT D0025:g.3031dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.3037G>C D0025:g.3037G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.3037G>A D0025:g.3037G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.3045_3049delinsA D0025:g.3045_3049delinsA CYBBbase complex exon 1 CYBBbase_D0025:g.3046_3047dupAACG D0025:g.3046_3047dupAACG CYBBbase duplication exon 1 CYBBbase_D0025:g.3059_3062delTCTG D0025:g.3059_3062delTCTG CYBBbase deletion exon 1 CYBBbase_D0025:g.3063G>A D0025:g.3063G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.3062G>A D0025:g.3062G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.3064delT D0025:g.3064delT CYBBbase deletion exon 1 CYBBbase_D0025:g.3069C>A D0025:g.3069C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.3071_3072insC D0025:g.3071_3072insC CYBBbase insertion exon 1 CYBBbase_D0025:g.3073delG D0025:g.3073delG CYBBbase deletion exon 1 CYBBbase_D0025:g.3078T>A D0025:g.3078T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.3084delT D0025:g.3084delT CYBBbase deletion exon 1 CYBBbase_D0025:g.3091A>T D0025:g.3091A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.3100T>G D0025:g.3100T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.3100delT D0025:g.3100delT CYBBbase deletion exon 1 CYBBbase_D0025:g.3100_3101insT D0025:g.3100_3101insT CYBBbase insertion exon 1 CYBBbase_D0025:g.3104C>G D0025:g.3104C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.3105_3109delinsTTTC D0025:g.3105_3109delinsTTTC CYBBbase complex exon 1 CYBBbase_D0025:g.3106A>T D0025:g.3106A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.3113T>G D0025:g.3113T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.4428C>G D0025:g.4428C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT D0025:g.4427_4444delinsCCTGCCTGAATTTCT CYBBbase complex exon 1 CYBBbase_D0025:g.4427_4444delinsTTAATTT D0025:g.4427_4444delinsTTAATTT CYBBbase complex exon 1 CYBBbase_D0025:g.4443C>A D0025:g.4443C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4444dupC D0025:g.4444dupC CYBBbase duplication exon 1 CYBBbase_D0025:g.4445A>G D0025:g.4445A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.4446G>T D0025:g.4446G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.4447G>C D0025:g.4447G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.4445_4450delAGGGCC D0025:g.4445_4450delAGGGCC CYBBbase deletion exon 1 CYBBbase_D0025:g.4449C>A D0025:g.4449C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4452C>T D0025:g.4452C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.4455C>A D0025:g.4455C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4461G>T D0025:g.4461G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.4460T>C D0025:g.4460T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.4462C>G D0025:g.4462C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.4461G>A D0025:g.4461G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4462C>A D0025:g.4462C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4470delT D0025:g.4470delT CYBBbase deletion exon 1 CYBBbase_D0025:g.4474C>G D0025:g.4474C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.4475T>C D0025:g.4475T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.4477C>A D0025:g.4477C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4479T>G D0025:g.4479T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.4482T>C D0025:g.4482T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.4480dupG D0025:g.4480dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.4495dupA D0025:g.4495dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.4502C>T D0025:g.4502C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.4511delC D0025:g.4511delC CYBBbase deletion exon 1 CYBBbase_D0025:g.4527delG D0025:g.4527delG CYBBbase deletion exon 1 CYBBbase_D0025:g.4527dupG D0025:g.4527dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.4537G>A D0025:g.4537G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.4537G>T D0025:g.4537G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.4536delC D0025:g.4536delC CYBBbase deletion exon 1 CYBBbase_D0025:g.12910C>A D0025:g.12910C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.12926C>T D0025:g.12926C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.12930delG D0025:g.12930delG CYBBbase deletion exon 1 CYBBbase_D0025:g.12941_12945delAGGAA D0025:g.12941_12945delAGGAA CYBBbase deletion exon 1 CYBBbase_D0025:g.12950delA D0025:g.12950delA CYBBbase deletion exon 1 CYBBbase_D0025:g.12957A>G D0025:g.12957A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.12956C>T D0025:g.12956C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.12973G>A D0025:g.12973G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.12975T>G D0025:g.12975T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.12976dupG D0025:g.12976dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.12981_12982delCA D0025:g.12981_12982delCA CYBBbase deletion exon 1 CYBBbase_D0025:g.12985_12986delTC D0025:g.12985_12986delTC CYBBbase deletion exon 1 CYBBbase_D0025:g.12989T>C D0025:g.12989T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.14599delG D0025:g.14599delG CYBBbase deletion exon 1 CYBBbase_D0025:g.14605C>A D0025:g.14605C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14603C>T D0025:g.14603C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14614delA D0025:g.14614delA CYBBbase deletion exon 1 CYBBbase_D0025:g.14616A>G D0025:g.14616A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.14616dupA D0025:g.14616dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.14619T>C D0025:g.14619T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.14620_14635del D0025:g.14620_14635del CYBBbase deletion exon 1 CYBBbase_D0025:g.14630G>T D0025:g.14630G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14635G>T D0025:g.14635G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14635G>A D0025:g.14635G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14634G>A D0025:g.14634G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14645_14646dupAATG D0025:g.14645_14646dupAATG CYBBbase duplication exon 1 CYBBbase_D0025:g.14649G>T D0025:g.14649G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14649G>C D0025:g.14649G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.14648C>T D0025:g.14648C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14648delC D0025:g.14648delC CYBBbase deletion exon 1 CYBBbase_D0025:g.14648_14649insT D0025:g.14648_14649insT CYBBbase insertion exon 1 CYBBbase_D0025:g.14654_14666del D0025:g.14654_14666del CYBBbase deletion exon 1 CYBBbase_D0025:g.14658delA D0025:g.14658delA CYBBbase deletion exon 1 CYBBbase_D0025:g.14671T>A D0025:g.14671T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14673C>A D0025:g.14673C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14672_14678delTCAGTAG D0025:g.14672_14678delTCAGTAG CYBBbase deletion exon 1 CYBBbase_D0025:g.14682T>C D0025:g.14682T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.14684T>C D0025:g.14684T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.14702_14703delinsT D0025:g.14702_14703delinsT CYBBbase complex exon 1 CYBBbase_D0025:g.14702C>T D0025:g.14702C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14706dupA D0025:g.14706dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.14708G>T D0025:g.14708G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14710_14711delAA D0025:g.14710_14711delAA CYBBbase deletion exon 1 CYBBbase_D0025:g.14716T>A D0025:g.14716T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14715_14716delAT D0025:g.14715_14716delAT CYBBbase deletion exon 1 CYBBbase_D0025:g.14718T>G D0025:g.14718T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.14721delA D0025:g.14721delA CYBBbase deletion exon 1 CYBBbase_D0025:g.14726G>A D0025:g.14726G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.14729C>T D0025:g.14729C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14732_14735delAAGA D0025:g.14732_14735delAAGA CYBBbase deletion exon 1 CYBBbase_D0025:g.14735_14741delAGAATAA D0025:g.14735_14741delAGAATAA CYBBbase deletion exon 1 CYBBbase_D0025:g.14739dupT D0025:g.14739dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.14743G>T D0025:g.14743G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.14742A>G D0025:g.14742A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.16917delC D0025:g.16917delC CYBBbase deletion exon 1 CYBBbase_D0025:g.16936G>A D0025:g.16936G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.16935G>A D0025:g.16935G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.16935G>T D0025:g.16935G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.16948_16959del D0025:g.16948_16959del CYBBbase deletion exon 1 CYBBbase_D0025:g.16953T>C D0025:g.16953T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.16955C>A D0025:g.16955C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.16954delG D0025:g.16954delG CYBBbase deletion exon 1 CYBBbase_D0025:g.16959_16967delATATTAATT D0025:g.16959_16967delATATTAATT CYBBbase deletion exon 1 CYBBbase_D0025:g.16960_16961dupCCTCAT D0025:g.16960_16961dupCCTCAT CYBBbase duplication exon 1 CYBBbase_D0025:g.16965_16968delATTA D0025:g.16965_16968delATTA CYBBbase deletion exon 1 CYBBbase_D0025:g.16978C>T D0025:g.16978C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.16977T>C D0025:g.16977T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.16981_16982dupTTCCTCCAC D0025:g.16981_16982dupTTCCTCCAC CYBBbase duplication exon 1 CYBBbase_D0025:g.16982_16983insAAAACA D0025:g.16982_16983insAAAACA CYBBbase insertion exon 1 CYBBbase_D0025:g.16992delC D0025:g.16992delC CYBBbase deletion exon 1 CYBBbase_D0025:g.16995delA D0025:g.16995delA CYBBbase deletion exon 1 CYBBbase_D0025:g.16996_16997insGTCTTACT D0025:g.16996_16997insGTCTTACT CYBBbase insertion exon 1 CYBBbase_D0025:g.17003C>G D0025:g.17003C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.17003delC D0025:g.17003delC CYBBbase deletion exon 1 CYBBbase_D0025:g.17006_17008delinsGG D0025:g.17006_17008delinsGG CYBBbase complex exon 1 CYBBbase_D0025:g.17007G>T D0025:g.17007G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.17013T>A D0025:g.17013T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.17014_17032del D0025:g.17014_17032del CYBBbase deletion exon 1 CYBBbase_D0025:g.17018G>A D0025:g.17018G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.17021C>A D0025:g.17021C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.17027T>A D0025:g.17027T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.17026A>G D0025:g.17026A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.17025C>T D0025:g.17025C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.17025_17026delCA D0025:g.17025_17026delCA CYBBbase deletion exon 1 CYBBbase_D0025:g.17032T>C D0025:g.17032T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.17032T>G D0025:g.17032T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.17031_17032dupCATC D0025:g.17031_17032dupCATC CYBBbase duplication exon 1 CYBBbase_D0025:g.17036delT D0025:g.17036delT CYBBbase deletion exon 1 CYBBbase_D0025:g.17046_17048delTTC D0025:g.17046_17048delTTC CYBBbase deletion exon 1 CYBBbase_D0025:g.17065A>T D0025:g.17065A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.17064C>A D0025:g.17064C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.17065A>G D0025:g.17065A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.17064C>T D0025:g.17064C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.17067_17068delinsTT D0025:g.17067_17068delinsTT CYBBbase complex exon 1 CYBBbase_D0025:g.17067G>T D0025:g.17067G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.17071C>G D0025:g.17071C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.17074A>T D0025:g.17074A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19889C>T D0025:g.19889C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19904C>T D0025:g.19904C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19913G>T D0025:g.19913G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19916_19917delAG D0025:g.19916_19917delAG CYBBbase deletion exon 1 CYBBbase_D0025:g.19926delT D0025:g.19926delT CYBBbase deletion exon 1 CYBBbase_D0025:g.19929_19933delATAAT D0025:g.19929_19933delATAAT CYBBbase deletion exon 1 CYBBbase_D0025:g.19943T>G D0025:g.19943T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.19943T>C D0025:g.19943T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.19944G>C D0025:g.19944G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.19943T>A D0025:g.19943T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.19944G>A D0025:g.19944G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.19945T>A D0025:g.19945T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.19946G>T D0025:g.19946G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19949C>T D0025:g.19949C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19951_19952delinsT D0025:g.19951_19952delinsT CYBBbase complex exon 1 CYBBbase_D0025:g.19955dupA D0025:g.19955dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.19965G>A D0025:g.19965G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.19967G>T D0025:g.19967G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19968delG D0025:g.19968delG CYBBbase deletion exon 1 CYBBbase_D0025:g.19968_19969delGA D0025:g.19968_19969delGA CYBBbase deletion exon 1 CYBBbase_D0025:g.19973dupA D0025:g.19973dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.19982T>C D0025:g.19982T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.19984C>A D0025:g.19984C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.19984delC D0025:g.19984delC CYBBbase deletion exon 1 CYBBbase_D0025:g.19992C>G D0025:g.19992C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.19994C>T D0025:g.19994C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.19994_19995delCA D0025:g.19994_19995delCA CYBBbase deletion exon 1 CYBBbase_D0025:g.19998_19999ins D0025:g.19998_19999ins CYBBbase insertion exon 1 CYBBbase_D0025:g.20020_20027delATGTACAA D0025:g.20020_20027delATGTACAA CYBBbase deletion intron 1 CYBBbase_D0025:g.20019_20020insTG D0025:g.20019_20020insTG CYBBbase insertion intron 1 CYBBbase_D0025:g.20001delC D0025:g.20001delC CYBBbase deletion exon 1 CYBBbase_D0025:g.20010delC D0025:g.20010delC CYBBbase deletion exon 1 CYBBbase_D0025:g.20012_20013insAA D0025:g.20012_20013insAA CYBBbase insertion exon 1 CYBBbase_D0025:g.22194G>A D0025:g.22194G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.22195A>T D0025:g.22195A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.22200G>A D0025:g.22200G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.22215_22237del D0025:g.22215_22237del CYBBbase deletion exon 1 CYBBbase_D0025:g.22224T>A D0025:g.22224T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.22228_22258del D0025:g.22228_22258del CYBBbase deletion exon 1 CYBBbase_D0025:g.22229dupG D0025:g.22229dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.22251G>A D0025:g.22251G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.22252C>T D0025:g.22252C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.22254_22263del D0025:g.22254_22263del CYBBbase deletion exon 1 CYBBbase_D0025:g.22271_22272dupGTGGT D0025:g.22271_22272dupGTGGT CYBBbase duplication exon 1 CYBBbase_D0025:g.22278delC D0025:g.22278delC CYBBbase deletion exon 1 CYBBbase_D0025:g.22281G>A D0025:g.22281G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.22281G>T D0025:g.22281G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24823C>A D0025:g.24823C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24827C>G D0025:g.24827C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.24820A>C D0025:g.24820A>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24822_24825delTCAC D0025:g.24822_24825delTCAC CYBBbase deletion exon 1 CYBBbase_D0025:g.24819dupC D0025:g.24819dupC CYBBbase duplication exon 1 CYBBbase_D0025:g.24825C>A D0025:g.24825C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24823C>T D0025:g.24823C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24827C>T D0025:g.24827C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24831delC D0025:g.24831delC CYBBbase deletion exon 1 CYBBbase_D0025:g.24832A>T D0025:g.24832A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24835A>C D0025:g.24835A>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24835delA D0025:g.24835delA CYBBbase deletion exon 1 CYBBbase_D0025:g.24838_24839insTCCTTTCA D0025:g.24838_24839insTCCTTTCA CYBBbase insertion exon 1 CYBBbase_D0025:g.24851_24853delTGA D0025:g.24851_24853delTGA CYBBbase deletion exon 1 CYBBbase_D0025:g.24838_24839insGTTTC D0025:g.24838_24839insGTTTC CYBBbase insertion exon 1 CYBBbase_D0025:g.24841G>A D0025:g.24841G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24841G>T D0025:g.24841G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24845T>C D0025:g.24845T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24847delC D0025:g.24847delC CYBBbase deletion exon 1 CYBBbase_D0025:g.24851T>A D0025:g.24851T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24851T>G D0025:g.24851T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.24859_24861delAAG D0025:g.24859_24861delAAG CYBBbase deletion exon 1 CYBBbase_D0025:g.24864delG D0025:g.24864delG CYBBbase deletion exon 1 CYBBbase_D0025:g.24874G>T D0025:g.24874G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24876delA D0025:g.24876delA CYBBbase deletion exon 1 CYBBbase_D0025:g.24874delG D0025:g.24874delG CYBBbase deletion exon 1 CYBBbase_D0025:g.24878T>G D0025:g.24878T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.24881G>A D0025:g.24881G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24881delG D0025:g.24881delG CYBBbase deletion exon 1 CYBBbase_D0025:g.24883C>T D0025:g.24883C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24888C>A D0025:g.24888C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24889A>T D0025:g.24889A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24895delG D0025:g.24895delG CYBBbase deletion exon 1 CYBBbase_D0025:g.24897_24901delCAAGT D0025:g.24897_24901delCAAGT CYBBbase deletion exon 1 CYBBbase_D0025:g.24901T>C D0025:g.24901T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24908_24913delinsGGGGG D0025:g.24908_24913delinsGGGGG CYBBbase complex exon 1 CYBBbase_D0025:g.24910delG D0025:g.24910delG CYBBbase deletion exon 1 CYBBbase_D0025:g.24913T>C D0025:g.24913T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24922G>T D0025:g.24922G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24926G>A D0025:g.24926G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24927G>A D0025:g.24927G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24928C>A D0025:g.24928C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24930C>A D0025:g.24930C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24929A>G D0025:g.24929A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.24928C>T D0025:g.24928C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24932C>A D0025:g.24932C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24932C>T D0025:g.24932C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24932delC D0025:g.24932delC CYBBbase deletion exon 1 CYBBbase_D0025:g.24932dupC D0025:g.24932dupC CYBBbase duplication exon 1 CYBBbase_D0025:g.24938C>T D0025:g.24938C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24938C>A D0025:g.24938C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24941T>A D0025:g.24941T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24943A>C D0025:g.24943A>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24947C>T D0025:g.24947C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24946T>C D0025:g.24946T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24948delC D0025:g.24948delC CYBBbase deletion exon 1 CYBBbase_D0025:g.24946_24947insCT D0025:g.24946_24947insCT CYBBbase insertion exon 1 CYBBbase_D0025:g.24954delT D0025:g.24954delT CYBBbase deletion exon 1 CYBBbase_D0025:g.24977A>C D0025:g.24977A>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24977A>G D0025:g.24977A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.24978_24987del D0025:g.24978_24987del CYBBbase deletion exon 1 CYBBbase_D0025:g.24979_24986delATCCGCAT D0025:g.24979_24986delATCCGCAT CYBBbase deletion exon 1 CYBBbase_D0025:g.24979delA D0025:g.24979delA CYBBbase deletion exon 1 CYBBbase_D0025:g.24983G>C D0025:g.24983G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24992G>C D0025:g.24992G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24991G>A D0025:g.24991G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24992G>T D0025:g.24992G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.24997T>C D0025:g.24997T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.24999G>A D0025:g.24999G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.24998G>A D0025:g.24998G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.25001C>T D0025:g.25001C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.25001C>G D0025:g.25001C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.25010T>C D0025:g.25010T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.25011delG D0025:g.25011delG CYBBbase deletion exon 1 CYBBbase_D0025:g.25010dupT D0025:g.25010dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.25021T>C D0025:g.25021T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.25036C>T D0025:g.25036C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.25039G>T D0025:g.25039G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.25045C>T D0025:g.25045C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.25052dupC D0025:g.25052dupC CYBBbase duplication exon 1 CYBBbase_D0025:g.25055G>A D0025:g.25055G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.25056G>A D0025:g.25056G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.25060_25061insAGGT D0025:g.25060_25061insAGGT CYBBbase insertion exon 1 CYBBbase_D0025:g.25063_25066delCCTA D0025:g.25063_25066delCCTA CYBBbase deletion exon 1 CYBBbase_D0025:g.25945T>G D0025:g.25945T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.25954delA D0025:g.25954delA CYBBbase deletion exon 1 CYBBbase_D0025:g.25957G>C D0025:g.25957G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.25957G>A D0025:g.25957G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.25956G>A D0025:g.25956G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.25957G>T D0025:g.25957G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.25958delG D0025:g.25958delG CYBBbase deletion exon 1 CYBBbase_D0025:g.25957_25961delinsTGTTCAGC D0025:g.25957_25961delinsTGTTCAGC CYBBbase complex exon 1 CYBBbase_D0025:g.25960C>T D0025:g.25960C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.25968delA D0025:g.25968delA CYBBbase deletion exon 1 CYBBbase_D0025:g.25971_25973delins D0025:g.25971_25973delins CYBBbase complex exon 1 CYBBbase_D0025:g.25977_25986del D0025:g.25977_25986del CYBBbase deletion exon 1 CYBBbase_D0025:g.25981_25982delAT D0025:g.25981_25982delAT CYBBbase deletion exon 1 CYBBbase_D0025:g.26014G>A D0025:g.26014G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26013G>A D0025:g.26013G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26013G>C D0025:g.26013G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.26026G>A D0025:g.26026G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26025G>A D0025:g.26025G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26025G>C D0025:g.26025G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.26024_26025ins D0025:g.26024_26025ins CYBBbase insertion exon 1 CYBBbase_D0025:g.26028dupG D0025:g.26028dupG CYBBbase duplication exon 1 CYBBbase_D0025:g.26035C>A D0025:g.26035C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26035C>T D0025:g.26035C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.26035C>G D0025:g.26035C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.26044C>A D0025:g.26044C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26046dupA D0025:g.26046dupA CYBBbase duplication exon 1 CYBBbase_D0025:g.26050T>C D0025:g.26050T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.26055T>C D0025:g.26055T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.26056C>A D0025:g.26056C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26056_26064delCAGTCTGGT D0025:g.26056_26064delCAGTCTGGT CYBBbase deletion exon 1 CYBBbase_D0025:g.26063G>A D0025:g.26063G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26062G>A D0025:g.26062G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26063delG D0025:g.26063delG CYBBbase deletion exon 1 CYBBbase_D0025:g.26066C>G D0025:g.26066C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.26072T>G D0025:g.26072T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.26075C>A D0025:g.26075C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.26078_26085delinsAAGCCA D0025:g.26078_26085delinsAAGCCA CYBBbase complex exon 1 CYBBbase_D0025:g.26085delA D0025:g.26085delA CYBBbase deletion exon 1 CYBBbase_D0025:g.26100A>T D0025:g.26100A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.26104delA D0025:g.26104delA CYBBbase deletion exon 1 CYBBbase_D0025:g.26104_26105delinsT D0025:g.26104_26105delinsT CYBBbase complex exon 1 CYBBbase_D0025:g.26105delG D0025:g.26105delG CYBBbase deletion exon 1 CYBBbase_D0025:g.27324delA D0025:g.27324delA CYBBbase deletion exon 1 CYBBbase_D0025:g.27329C>A D0025:g.27329C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27329C>G D0025:g.27329C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.27335C>G D0025:g.27335C>G CYBBbase substitution exon 1 CYBBbase_D0025:g.27338G>A D0025:g.27338G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27336delT D0025:g.27336delT CYBBbase deletion exon 1 CYBBbase_D0025:g.27342T>C D0025:g.27342T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.27344C>A D0025:g.27344C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27349delA D0025:g.27349delA CYBBbase deletion exon 1 CYBBbase_D0025:g.27357_27361delGCCTT D0025:g.27357_27361delGCCTT CYBBbase deletion exon 1 CYBBbase_D0025:g.27359delC D0025:g.27359delC CYBBbase deletion exon 1 CYBBbase_D0025:g.27363G>T D0025:g.27363G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.27366T>C D0025:g.27366T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.27366T>A D0025:g.27366T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27367G>A D0025:g.27367G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27368G>A D0025:g.27368G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27366_27367delTG D0025:g.27366_27367delTG CYBBbase deletion exon 1 CYBBbase_D0025:g.27372_27384del D0025:g.27372_27384del CYBBbase deletion exon 1 CYBBbase_D0025:g.27384C>T D0025:g.27384C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.27391delT D0025:g.27391delT CYBBbase deletion exon 1 CYBBbase_D0025:g.27393G>T D0025:g.27393G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.27405C>T D0025:g.27405C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.27408G>T D0025:g.27408G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.27424delG D0025:g.27424delG CYBBbase deletion exon 1 CYBBbase_D0025:g.27430T>G D0025:g.27430T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.27437C>A D0025:g.27437C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27446C>A D0025:g.27446C>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27450A>C D0025:g.27450A>C CYBBbase substitution exon 1 CYBBbase_D0025:g.27458G>A D0025:g.27458G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27457G>A D0025:g.27457G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.27456_27468del D0025:g.27456_27468del CYBBbase deletion exon 1 CYBBbase_D0025:g.27464delG D0025:g.27464delG CYBBbase deletion exon 1 CYBBbase_D0025:g.27465dupT D0025:g.27465dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.30506delC D0025:g.30506delC CYBBbase deletion exon 1 CYBBbase_D0025:g.30526A>C D0025:g.30526A>C CYBBbase substitution exon 1 CYBBbase_D0025:g.30530_30532delTGA D0025:g.30530_30532delTGA CYBBbase deletion exon 1 CYBBbase_D0025:g.30539delA D0025:g.30539delA CYBBbase deletion exon 1 CYBBbase_D0025:g.30542T>G D0025:g.30542T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.30541A>G D0025:g.30541A>G CYBBbase substitution exon 1 CYBBbase_D0025:g.30540G>C D0025:g.30540G>C CYBBbase substitution exon 1 CYBBbase_D0025:g.30540G>A D0025:g.30540G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.30540G>T D0025:g.30540G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.30551delA D0025:g.30551delA CYBBbase deletion exon 1 CYBBbase_D0025:g.30556T>C D0025:g.30556T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.30556T>G D0025:g.30556T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.30557_30567del D0025:g.30557_30567del CYBBbase deletion exon 1 CYBBbase_D0025:g.30561C>T D0025:g.30561C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.30563_30567delinsCATCTGGG D0025:g.30563_30567delinsCATCTGGG CYBBbase complex exon 1 CYBBbase_D0025:g.30564_30565delAA D0025:g.30564_30565delAA CYBBbase deletion exon 1 CYBBbase_D0025:g.30566_30569delGACT D0025:g.30566_30569delGACT CYBBbase deletion exon 1 CYBBbase_D0025:g.30565delA D0025:g.30565delA CYBBbase deletion exon 1 CYBBbase_D0025:g.30570_30571delTT D0025:g.30570_30571delTT CYBBbase deletion exon 1 CYBBbase_D0025:g.30575T>A D0025:g.30575T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.30574_30580delinsTTCA D0025:g.30574_30580delinsTTCA CYBBbase complex exon 1 CYBBbase_D0025:g.30590G>T D0025:g.30590G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.30588T>C D0025:g.30588T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.30588T>A D0025:g.30588T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.30590G>A D0025:g.30590G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.30589G>A D0025:g.30589G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.30591delG D0025:g.30591delG CYBBbase deletion exon 1 CYBBbase_D0025:g.30597G>T D0025:g.30597G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.30603A>T D0025:g.30603A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.30607delC D0025:g.30607delC CYBBbase deletion exon 1 CYBBbase_D0025:g.30613C>T D0025:g.30613C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.30620delA D0025:g.30620delA CYBBbase deletion exon 1 CYBBbase_D0025:g.31739_31741delGAG D0025:g.31739_31741delGAG CYBBbase deletion exon 1 CYBBbase_D0025:g.31742T>A D0025:g.31742T>A CYBBbase substitution exon 1 CYBBbase_D0025:g.31741_31755del D0025:g.31741_31755del CYBBbase deletion exon 1 CYBBbase_D0025:g.31744_31750delTTCCTCT D0025:g.31744_31750delTTCCTCT CYBBbase deletion exon 1 CYBBbase_D0025:g.31748dupT D0025:g.31748dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.31750T>C D0025:g.31750T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.31752_31753delTG D0025:g.31752_31753delTG CYBBbase deletion exon 1 CYBBbase_D0025:g.31759delG D0025:g.31759delG CYBBbase deletion exon 1 CYBBbase_D0025:g.31766T>C D0025:g.31766T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.31766_31767dupCCTT D0025:g.31766_31767dupCCTT CYBBbase duplication exon 1 CYBBbase_D0025:g.31778T>C D0025:g.31778T>C CYBBbase substitution exon 1 CYBBbase_D0025:g.31778T>G D0025:g.31778T>G CYBBbase substitution exon 1 CYBBbase_D0025:g.31783A>T D0025:g.31783A>T CYBBbase substitution exon 1 CYBBbase_D0025:g.31786C>T D0025:g.31786C>T CYBBbase substitution exon 1 CYBBbase_D0025:g.31799delA D0025:g.31799delA CYBBbase deletion exon 1 CYBBbase_D0025:g.31802_31803delCT D0025:g.31802_31803delCT CYBBbase deletion exon 1 CYBBbase_D0025:g.31802_31803ins D0025:g.31802_31803ins CYBBbase insertion exon 1 CYBBbase_D0025:g.31803dupT D0025:g.31803dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.31803_31804insGT D0025:g.31803_31804insGT CYBBbase insertion exon 1 CYBBbase_D0025:g.31819G>T D0025:g.31819G>T CYBBbase substitution exon 1 CYBBbase_D0025:g.31820delG D0025:g.31820delG CYBBbase deletion exon 1 CYBBbase_D0025:g.31823_31853del D0025:g.31823_31853del CYBBbase deletion exon 1 CYBBbase_D0025:g.31835dupT D0025:g.31835dupT CYBBbase duplication exon 1 CYBBbase_D0025:g.31843G>A D0025:g.31843G>A CYBBbase substitution exon 1 CYBBbase_D0025:g.946A>C D0025:g.946A>C CYBBbase substitution not within known transcription unit 1 CYBBbase_D0025:g.948T>C D0025:g.948T>C CYBBbase substitution not within known transcription unit 1 CYBBbase_D0025:g.950C>T D0025:g.950C>T CYBBbase substitution not within known transcription unit 1 CYBBbase_D0025:g.951C>T D0025:g.951C>T CYBBbase substitution not within known transcription unit 1 CYBBbase_D0025:g.1064G>A D0025:g.1064G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.1065T>C D0025:g.1065T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.1060G>C D0025:g.1060G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.3024G>A D0025:g.3024G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.3023A>G D0025:g.3023A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.1060G>A D0025:g.1060G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.3024G>T D0025:g.3024G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.3024G>C D0025:g.3024G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.1060G>T D0025:g.1060G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.1060delG D0025:g.1060delG CYBBbase deletion intron 1 CYBBbase_D0025:g.1064_1066delGTA D0025:g.1064_1066delGTA CYBBbase deletion intron 1 CYBBbase_D0025:g.3011_3014delinsGAA D0025:g.3011_3014delinsGAA CYBBbase complex intron 1 CYBBbase_D0025:g.3014T>G D0025:g.3014T>G CYBBbase substitution intron 1 CYBBbase_D0025:g.4425A>G D0025:g.4425A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.3121delG D0025:g.3121delG CYBBbase deletion intron 1 CYBBbase_D0025:g.3125_3126delGT D0025:g.3125_3126delGT CYBBbase deletion intron 1 CYBBbase_D0025:g.3122T>G D0025:g.3122T>G CYBBbase substitution intron 1 CYBBbase_D0025:g.3121G>A D0025:g.3121G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.3121G>T D0025:g.3121G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.3122T>C D0025:g.3122T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.3125G>T D0025:g.3125G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.4426G>A D0025:g.4426G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.3125G>A D0025:g.3125G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.4415C>T D0025:g.4415C>T CYBBbase substitution intron 1 CYBBbase_D0025:g.4415delinsACCTCTTCTAG D0025:g.4415delinsACCTCTTCTAG CYBBbase complex intron 1 CYBBbase_D0025:g.4425A>T D0025:g.4425A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.4426G>C D0025:g.4426G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.4542G>A D0025:g.4542G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.4542G>C D0025:g.4542G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.4538G>T D0025:g.4538G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.4538G>A D0025:g.4538G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.12907G>A D0025:g.12907G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.4538G>C D0025:g.4538G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.4539T>C D0025:g.4539T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.4539dupT D0025:g.4539dupT CYBBbase duplication intron 1 CYBBbase_D0025:g.12900A>G D0025:g.12900A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.12905A>G D0025:g.12905A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.12907G>T D0025:g.12907G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.14596A>C D0025:g.14596A>C CYBBbase substitution intron 1 CYBBbase_D0025:g.14597G>A D0025:g.14597G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.14596A>G D0025:g.14596A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.12993G>C D0025:g.12993G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.12993G>A D0025:g.12993G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.12993G>T D0025:g.12993G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.12994dupT D0025:g.12994dupT CYBBbase duplication intron 1 CYBBbase_D0025:g.12997dupG D0025:g.12997dupG CYBBbase duplication intron 1 CYBBbase_D0025:g.14746A>T D0025:g.14746A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.14744G>T D0025:g.14744G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.14748G>A D0025:g.14748G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.14745T>C D0025:g.14745T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.14744G>A D0025:g.14744G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.15721G>T D0025:g.15721G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.16881C>A D0025:g.16881C>A CYBBbase substitution intron 1 CYBBbase_D0025:g.16882A>T D0025:g.16882A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.17078_17081delAGTG D0025:g.17078_17081delAGTG CYBBbase deletion intron 1 CYBBbase_D0025:g.17079G>A D0025:g.17079G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.17080T>A D0025:g.17080T>A CYBBbase substitution intron 1 CYBBbase_D0025:g.17079G>C D0025:g.17079G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.18731A>G D0025:g.18731A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.17075G>T D0025:g.17075G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.17075G>A D0025:g.17075G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.17077G>C D0025:g.17077G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.17078A>G D0025:g.17078A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.17078A>T D0025:g.17078A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.17078A>C D0025:g.17078A>C CYBBbase substitution intron 1 CYBBbase_D0025:g.17080T>C D0025:g.17080T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.18889T>G D0025:g.18889T>G CYBBbase substitution intron 1 CYBBbase_D0025:g.19886A>C D0025:g.19886A>C CYBBbase substitution intron 1 CYBBbase_D0025:g.19887G>A D0025:g.19887G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.20019T>A D0025:g.20019T>A CYBBbase substitution intron 1 CYBBbase_D0025:g.20019T>C D0025:g.20019T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.22187A>C D0025:g.22187A>C CYBBbase substitution intron 1 CYBBbase_D0025:g.22187A>G D0025:g.22187A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.22188G>A D0025:g.22188G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.20018G>A D0025:g.20018G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.20018G>T D0025:g.20018G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.22187A>T D0025:g.22187A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.22188G>C D0025:g.22188G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.22282G>T D0025:g.22282G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.22282G>A D0025:g.22282G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.24813G>A D0025:g.24813G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.25072G>A D0025:g.25072G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.25941A>G D0025:g.25941A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.25071A>T D0025:g.25071A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.25932T>G D0025:g.25932T>G CYBBbase substitution intron 1 CYBBbase_D0025:g.25941A>T D0025:g.25941A>T CYBBbase substitution intron 1 CYBBbase_D0025:g.25942G>A D0025:g.25942G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.26106G>A D0025:g.26106G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.26107T>A D0025:g.26107T>A CYBBbase substitution intron 1 CYBBbase_D0025:g.27320T>C D0025:g.27320T>C CYBBbase substitution intron 1 CYBBbase_D0025:g.26106G>T D0025:g.26106G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.26106G>C D0025:g.26106G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.26107T>G D0025:g.26107T>G CYBBbase substitution intron 1 CYBBbase_D0025:g.26109_26110delinsGC D0025:g.26109_26110delinsGC CYBBbase complex intron 1 CYBBbase_D0025:g.27322delinsC D0025:g.27322delinsC CYBBbase complex intron 1 CYBBbase_D0025:g.27323delinsT D0025:g.27323delinsT CYBBbase complex intron 1 CYBBbase_D0025:g.30502A>G D0025:g.30502A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.27471G>A D0025:g.27471G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.27471G>T D0025:g.27471G>T CYBBbase substitution intron 1 CYBBbase_D0025:g.30503G>A D0025:g.30503G>A CYBBbase substitution intron 1 CYBBbase_D0025:g.27472delT D0025:g.27472delT CYBBbase deletion intron 1 CYBBbase_D0025:g.31726A>G D0025:g.31726A>G CYBBbase substitution intron 1 CYBBbase_D0025:g.30627_30637del D0025:g.30627_30637del CYBBbase deletion not within known transcription unit 1 CYBBbase_D0025:g.30629G>C D0025:g.30629G>C CYBBbase substitution intron 1 CYBBbase_D0025:g.30631A>T D0025:g.30631A>T CYBBbase substitution intron 1 DKC1base_D0028:g.3768_3769delinsTC D0028:g.3768_3769delinsTC DKC1base complex exon 1 DKC1base_D0028:g.3715T>C D0028:g.3715T>C DKC1base substitution exon 1 DKC1base_D0028:g.3748C>T D0028:g.3748C>T DKC1base substitution exon 1 DKC1base_D0028:g.4192C>T D0028:g.4192C>T DKC1base substitution exon 1 DKC1base_D0028:g.4556A>G D0028:g.4556A>G DKC1base substitution exon 1 DKC1base_D0028:g.11395C>T D0028:g.11395C>T DKC1base substitution exon 1 DKC1base_D0028:g.12949G>A D0028:g.12949G>A DKC1base substitution intron 1 DNMT3Bbase_D0096:g.40317C>T D0096:g.40317C>T DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.67766G>A D0096:g.67766G>A DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.65452G>A D0096:g.65452G>A DNMT3Bbase substitution intron 1 DNMT3Bbase_D0096:g.65903T>C D0096:g.65903T>C DNMT3Bbase substitution intron 1 DNMT3Bbase_D0096:g.67577G>A D0096:g.67577G>A DNMT3Bbase substitution intron 1 DNMT3Bbase_D0096:g.41276C>T D0096:g.41276C>T DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.61283T>G D0096:g.61283T>G DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.47313C>T D0096:g.47313C>T DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.60116T>C D0096:g.60116T>C DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.48913T>C D0096:g.48913T>C DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.60106G>A D0096:g.60106G>A DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.67657G>A D0096:g.67657G>A DNMT3Bbase substitution intron 1 DNMT3Bbase_D0096:g.62322T>G D0096:g.62322T>G DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.65308G>C D0096:g.65308G>C DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.67688A>G D0096:g.67688A>G DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.67699G>A D0096:g.67699G>A DNMT3Bbase substitution exon 1 DNMT3Bbase_D0096:g.67697A>G D0096:g.67697A>G DNMT3Bbase substitution exon 1 ELA2base_D0029:g.1287A>G D0029:g.1287A>G ELA2base substitution exon 1 ELA2base_Y00477.1:g.1808T>G Y00477.1:g.1808T>G ELA2base substitution exon 1 ELA2base_Y00477.1:g.1912T>A Y00477.1:g.1912T>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.1792C>T Y00477.1:g.1792C>T ELA2base substitution exon 1 ELA2base_D0029:g.1843C>T D0029:g.1843C>T ELA2base substitution exon 1 ELA2base_D0029:g.1847C>A D0029:g.1847C>A ELA2base substitution exon 1 ELA2base_D0029:g.1855C>T D0029:g.1855C>T ELA2base substitution exon 1 ELA2base_D0029:g.1858T>C D0029:g.1858T>C ELA2base substitution exon 1 ELA2base_D0029:g.1876A>T D0029:g.1876A>T ELA2base substitution exon 1 ELA2base_D0029:g.1882G>A D0029:g.1882G>A ELA2base substitution exon 1 ELA2base_D0029:g.1887G>A D0029:g.1887G>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.1888C>T Y00477.1:g.1888C>T ELA2base substitution exon 1 ELA2base_D0029:g.1897T>C D0029:g.1897T>C ELA2base substitution exon 1 ELA2base_D0029:g.1900C>T D0029:g.1900C>T ELA2base substitution exon 1 ELA2base_Y00477.1:g.1903_1926del Y00477.1:g.1903_1926del ELA2base deletion exon 1 ELA2base_D0029:g.1929T>C D0029:g.1929T>C ELA2base substitution exon 1 ELA2base_D0029:g.1929T>A D0029:g.1929T>A ELA2base substitution exon 1 ELA2base_D0029:g.2190G>C D0029:g.2190G>C ELA2base substitution exon 1 ELA2base_Y00477.1:g.2190G>C Y00477.1:g.2190G>C ELA2base substitution exon 1 ELA2base_D0029:g.2192G>A D0029:g.2192G>A ELA2base substitution exon 1 ELA2base_D0029:g.2199T>C D0029:g.2199T>C ELA2base substitution exon 1 ELA2base_D0029:g.2202G>A D0029:g.2202G>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.2202G>A Y00477.1:g.2202G>A ELA2base substitution exon 1 ELA2base_D0029:g.2249G>A D0029:g.2249G>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.2249G>A Y00477.1:g.2249G>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.2310T>A Y00477.1:g.2310T>A ELA2base substitution exon 1 ELA2base_D0029:g.2310T>C D0029:g.2310T>C ELA2base substitution exon 1 ELA2base_D0029:g.4495C>T D0029:g.4495C>T ELA2base substitution exon 1 ELA2base_Y00477.1:g.4498C>A Y00477.1:g.4498C>A ELA2base substitution exon 1 ELA2base_D0029:g.4497G>C D0029:g.4497G>C ELA2base substitution exon 1 ELA2base_Y00477.1:g.4498_4500delCCA Y00477.1:g.4498_4500delCCA ELA2base deletion exon 1 ELA2base_D0029:g.4534C>T D0029:g.4534C>T ELA2base substitution exon 1 ELA2base_D0029:g.4569T>A D0029:g.4569T>A ELA2base substitution exon 1 ELA2base_D0029:g.4570G>A D0029:g.4570G>A ELA2base substitution exon 1 ELA2base_D0029:g.4573T>C D0029:g.4573T>C ELA2base substitution exon 1 ELA2base_Y00477.1:g.4614G>A Y00477.1:g.4614G>A ELA2base substitution exon 1 ELA2base_D0029:g.4638_4661del D0029:g.4638_4661del ELA2base deletion exon 1 ELA2base_Y00477.1:g.4892G>A Y00477.1:g.4892G>A ELA2base substitution exon 1 ELA2base_D0029:g.4898C>G D0029:g.4898C>G ELA2base substitution exon 1 ELA2base_D0029:g.4902G>T D0029:g.4902G>T ELA2base substitution exon 1 ELA2base_D0029:g.4913G>T D0029:g.4913G>T ELA2base substitution exon 1 ELA2base_D0029:g.4924G>A D0029:g.4924G>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.4924G>A Y00477.1:g.4924G>A ELA2base substitution exon 1 ELA2base_D0029:g.4939G>A D0029:g.4939G>A ELA2base substitution exon 1 ELA2base_D0029:g.4943G>A D0029:g.4943G>A ELA2base substitution exon 1 ELA2base_D0029:g.4945G>T D0029:g.4945G>T ELA2base substitution exon 1 ELA2base_D0029:g.4953C>A D0029:g.4953C>A ELA2base substitution exon 1 ELA2base_Y00477.1:g.4953C>A Y00477.1:g.4953C>A ELA2base substitution exon 1 ELA2base_D0029:g.4958C>A D0029:g.4958C>A ELA2base substitution exon 1 ELA2base_D0029:g.4968C>A D0029:g.4968C>A ELA2base substitution exon 1 ELA2base_D0029:g.4972delG D0029:g.4972delG ELA2base deletion exon 1 ELA2base_D0029:g.4981G>C D0029:g.4981G>C ELA2base substitution exon 1 ELA2base_D0029:g.5054C>T D0029:g.5054C>T ELA2base substitution exon 1 ELA2base_D0029:g.5069C>T D0029:g.5069C>T ELA2base substitution exon 1 ELA2base_D0029:g.1246C>A D0029:g.1246C>A ELA2base substitution not within known transcription unit 1 ELA2base_D0029:g.1063C>A D0029:g.1063C>A ELA2base substitution not within known transcription unit 1 ELA2base_D0029:g.4477C>A D0029:g.4477C>A ELA2base substitution intron 1 ELA2base_D0029:g.4716G>A D0029:g.4716G>A ELA2base substitution intron 1 ELA2base_D0029:g.4718A>T D0029:g.4718A>T ELA2base substitution intron 1 ELA2base_D0029:g.4720G>A D0029:g.4720G>A ELA2base substitution intron 1 ELA2base_D0029:g.4676C>A D0029:g.4676C>A ELA2base substitution exon 1 FASLGbase_D0090:g.83392_83475del D0090:g.83392_83475del FASLGbase deletion exon 1 FASLGbase_D0090:g.83660C>A D0090:g.83660C>A FASLGbase substitution exon 1 FCGR1Abase_D0032:g.2493C>T D0032:g.2493C>T FCGR1Abase substitution exon 1 FCGR3Abase_D0033:g.2217T>A D0033:g.2217T>A FCGR3Abase substitution exon 1 FOXN1base_D0034:g.56561C>T D0034:g.56561C>T FOXN1base substitution exon 1 FOXP3base_D0035:g.81684_81685delinsGC D0035:g.81684_81685delinsGC FOXP3base complex exon 1 FOXP3base_D0035:g.74878G>A D0035:g.74878G>A FOXP3base substitution exon 1 FOXP3base_D0035:g.74877T>C D0035:g.74877T>C FOXP3base substitution exon 1 FOXP3base_D0035:g.75629delT D0035:g.75629delT FOXP3base deletion exon 1 FOXP3base_D0035:g.75705_75706delTT D0035:g.75705_75706delTT FOXP3base deletion exon 1 FOXP3base_D0035:g.76526C>T D0035:g.76526C>T FOXP3base substitution exon 1 FOXP3base_D0035:g.80177T>C D0035:g.80177T>C FOXP3base substitution exon 1 FOXP3base_D0035:g.76543C>T D0035:g.76543C>T FOXP3base substitution exon 1 FOXP3base_D0035:g.77652T>C D0035:g.77652T>C FOXP3base substitution exon 1 FOXP3base_D0035:g.77880_77882delAAG D0035:g.77880_77882delAAG FOXP3base deletion exon 1 FOXP3base_D0035:g.77883_77885delGAG D0035:g.77883_77885delGAG FOXP3base deletion exon 1 FOXP3base_D0035:g.80217G>A D0035:g.80217G>A FOXP3base substitution exon 1 FOXP3base_D0035:g.80222C>G D0035:g.80222C>G FOXP3base substitution exon 1 FOXP3base_D0035:g.80247G>A D0035:g.80247G>A FOXP3base substitution exon 1 FOXP3base_D0035:g.81654A>G D0035:g.81654A>G FOXP3base substitution exon 1 FOXP3base_D0035:g.81666T>C D0035:g.81666T>C FOXP3base substitution exon 1 FOXP3base_D0035:g.81668C>G D0035:g.81668C>G FOXP3base substitution exon 1 FOXP3base_D0035:g.81679T>G D0035:g.81679T>G FOXP3base substitution exon 1 FOXP3base_D0035:g.81684T>G D0035:g.81684T>G FOXP3base substitution exon 1 FOXP3base_D0035:g.81688T>G D0035:g.81688T>G FOXP3base substitution exon 1 FOXP3base_D0035:g.81706C>T D0035:g.81706C>T FOXP3base substitution exon 1 FOXP3base_D0035:g.81897G>A D0035:g.81897G>A FOXP3base substitution exon 1 FOXP3base_D0035:g.81936C>T D0035:g.81936C>T FOXP3base substitution exon 1 FOXP3base_D0035:g.81969G>A D0035:g.81969G>A FOXP3base substitution exon 1 FOXP3base_D0035:g.82040_82041delCT D0035:g.82040_82041delCT FOXP3base deletion exon 1 FOXP3base_D0035:g.82919A>G D0035:g.82919A>G FOXP3base substitution not within known transcription unit 1 FOXP3base_D0035:g.77667T>A D0035:g.77667T>A FOXP3base substitution intron 1 FOXP3base_D0035:g.77952A>G D0035:g.77952A>G FOXP3base substitution intron 1 FOXP3base_D0035:g.81609C>G D0035:g.81609C>G FOXP3base substitution intron 1 GFI1base_D0037:g.4502G>A D0037:g.4502G>A GFI1base substitution exon 1 GFI1base_D0037:g.11730A>G D0037:g.11730A>G GFI1base substitution exon 1 GFI1base_D0037:g.11793A>G D0037:g.11793A>G GFI1base substitution exon 1 HAX1base_D0121:g.1863delG D0121:g.1863delG HAX1base deletion exon 1 HAX1base_D0121:g.3655C>T D0121:g.3655C>T HAX1base substitution exon 1 HAX1base_D0121:g.1902_1903insA D0121:g.1902_1903insA HAX1base insertion exon 1 HAX1base_D0121:g.1946_1947insC D0121:g.1946_1947insC HAX1base insertion exon 1 HAX1base_D0121:g.1952delA D0121:g.1952delA HAX1base deletion exon 1 HAX1base_D0121:g.2028C>T D0121:g.2028C>T HAX1base substitution exon 1 HAX1base_D0121:g.2315_2328del D0121:g.2315_2328del HAX1base deletion exon 1 HAX1base_D0121:g.2336T>G D0121:g.2336T>G HAX1base substitution exon 1 HAX1base_D0121:g.2377dupG D0121:g.2377dupG HAX1base duplication exon 1 HAX1base_D0121:g.2378T>G D0121:g.2378T>G HAX1base substitution exon 1 HAX1base_D0121:g.2356C>T D0121:g.2356C>T HAX1base substitution exon 1 HAX1base_D0121:g.2368T>C D0121:g.2368T>C HAX1base substitution exon 1 HAX1base_D0121:g.2410dupC D0121:g.2410dupC HAX1base duplication exon 1 HAX1base_D0121:g.3449G>A D0121:g.3449G>A HAX1base substitution exon 1 ICOSbase_D0039:g.172403delT D0039:g.172403delT ICOSbase deletion exon 1 ICOSbase_D0039:g.171583_173397del D0039:g.171583_173397del ICOSbase deletion intron 1 IFNGR1base_D0041:g.32897delC D0041:g.32897delC IFNGR1base deletion exon 1 IFNGR1base_D0041:g.45144dupT D0041:g.45144dupT IFNGR1base duplication exon 1 IFNGR1base_D0041:g.45145_45146insT D0041:g.45145_45146insT IFNGR1base insertion exon 1 IFNGR1base_D0041:g.45236A>G D0041:g.45236A>G IFNGR1base substitution exon 1 IFNGR1base_D0041:g.45207delC D0041:g.45207delC IFNGR1base deletion exon 1 IFNGR1base_D0041:g.45947G>A D0041:g.45947G>A IFNGR1base substitution exon 1 IFNGR1base_D0041:g.47847delT D0041:g.47847delT IFNGR1base deletion exon 1 IFNGR1base_D0041:g.45146_45147dupTTAC D0041:g.45146_45147dupTTAC IFNGR1base duplication exon 1 IFNGR1base_D0041:g.45240G>T D0041:g.45240G>T IFNGR1base substitution intron 1 IFNGR1base_D0041:g.45170delC D0041:g.45170delC IFNGR1base deletion exon 1 IFNGR1base_D0041:g.45221T>A D0041:g.45221T>A IFNGR1base substitution exon 1 IFNGR1base_D0041:g.48623_48625delAAG D0041:g.48623_48625delAAG IFNGR1base deletion exon 1 IFNGR1base_D0041:g.45227T>G D0041:g.45227T>G IFNGR1base substitution exon 1 IFNGR1base_D0041:g.45923G>A D0041:g.45923G>A IFNGR1base substitution exon 1 IFNGR1base_D0041:g.45953T>C D0041:g.45953T>C IFNGR1base substitution exon 1 IFNGR1base_D0041:g.45988_45999del D0041:g.45988_45999del IFNGR1base deletion exon 1 IFNGR1base_D0041:g.46040C>A D0041:g.46040C>A IFNGR1base substitution exon 1 IFNGR1base_D0041:g.46067G>T D0041:g.46067G>T IFNGR1base substitution intron 1 IFNGR1base_D0041:g.48531_48534delACTC D0041:g.48531_48534delACTC IFNGR1base deletion exon 1 IFNGR1base_D0041:g.51234_51237delTCTA D0041:g.51234_51237delTCTA IFNGR1base deletion exon 1 IFNGR1base_D0041:g.51271_51274delAAGA D0041:g.51271_51274delAAGA IFNGR1base deletion exon 1 IFNGR1base_D0041:g.51278_51281delTTAA D0041:g.51278_51281delTTAA IFNGR1base deletion exon 1 IFNGR1base_D0041:g.51278delT D0041:g.51278delT IFNGR1base deletion exon 1 IFNGR1base_D0041:g.51277dupA D0041:g.51277dupA IFNGR1base duplication exon 1 IFNGR1base_D0041:g.51292G>T D0041:g.51292G>T IFNGR1base substitution exon 1 IFNGR1base_D0041:g.54101T>C D0041:g.54101T>C IFNGR1base substitution exon 1 IFNGR1base_D0041:g.45892A>G D0041:g.45892A>G IFNGR1base substitution intron 1 IFNGR2base_D0042:g.19766_19767dupACAATG D0042:g.19766_19767dupACAATG IFNGR2base duplication exon 1 IFNGR2base_D0042:g.19657_19658delAG D0042:g.19657_19658delAG IFNGR2base deletion exon 1 IFNGR2base_D0042:g.19719C>T D0042:g.19719C>T IFNGR2base substitution exon 1 IFNGR2base_D0042:g.25080C>A D0042:g.25080C>A IFNGR2base substitution exon 1 IFNGR2base_D0042:g.30384_30410del D0042:g.30384_30410del IFNGR2base deletion exon 1 IFNGR2base_D0042:g.30889delG D0042:g.30889delG IFNGR2base deletion exon 1 IGHG2base_D0043:g.1795dupG D0043:g.1795dupG IGHG2base duplication exon 1 IGHG2base_D0043:g.513A>G D0043:g.513A>G IGHG2base substitution intron 1 IGHMbase_X57331.1:g.1217delA X57331.1:g.1217delA IGHMbase deletion exon 1 IGHMbase_X57331.1:g.1255G>A X57331.1:g.1255G>A IGHMbase substitution exon 1 IGHMbase_X57331.1:g.738_739delAA X57331.1:g.738_739delAA IGHMbase deletion exon 1 IGHMbase_X57331.1:g.1893T>G X57331.1:g.1893T>G IGHMbase substitution exon 1 IGHMbase_X57331.1:g.1956G>A X57331.1:g.1956G>A IGHMbase substitution exon 1 IGLL1base_D0045:g.258C>T D0045:g.258C>T IGLL1base substitution exon 1 IGLL1base_D0045:g.6904C>T D0045:g.6904C>T IGLL1base substitution exon 1 IKBKGbase_D0046:g.9771G>T D0046:g.9771G>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.9842_9843insC D0046:g.9842_9843insC IKBKGbase insertion exon 1 IKBKGbase_D0046:g.9900G>A D0046:g.9900G>A IKBKGbase substitution exon 1 IKBKGbase_D0046:g.9915C>T D0046:g.9915C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.13951T>C D0046:g.13951T>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.13978_13980delAGA D0046:g.13978_13980delAGA IKBKGbase deletion exon 1 IKBKGbase_D0046:g.14049G>A D0046:g.14049G>A IKBKGbase substitution exon 1 IKBKGbase_D0046:g.14079C>T D0046:g.14079C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.16325T>G D0046:g.16325T>G IKBKGbase substitution exon 1 IKBKGbase_D0046:g.16384C>G D0046:g.16384C>G IKBKGbase substitution exon 1 IKBKGbase_D0046:g.18148G>C D0046:g.18148G>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.18173G>C D0046:g.18173G>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.19432T>C D0046:g.19432T>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.19467C>T D0046:g.19467C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.19470G>T D0046:g.19470G>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.20567_20568insA D0046:g.20567_20568insA IKBKGbase insertion exon 1 IKBKGbase_D0046:g.20586_20603del D0046:g.20586_20603del IKBKGbase deletion exon 1 IKBKGbase_D0046:g.20638C>G D0046:g.20638C>G IKBKGbase substitution exon 1 IKBKGbase_D0046:g.21326A>C D0046:g.21326A>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.21325_21326insG D0046:g.21325_21326insG IKBKGbase insertion exon 1 IKBKGbase_D0046:g.21338G>A D0046:g.21338G>A IKBKGbase substitution exon 1 IKBKGbase_D0046:g.21349G>C D0046:g.21349G>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.21376C>T D0046:g.21376C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.21714C>T D0046:g.21714C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.21716delG D0046:g.21716delG IKBKGbase deletion exon 1 IKBKGbase_D0046:g.21754delC D0046:g.21754delC IKBKGbase deletion exon 1 IKBKGbase_D0046:g.22087C>T D0046:g.22087C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22103_22104insAC D0046:g.22103_22104insAC IKBKGbase insertion exon 1 IKBKGbase_D0046:g.22104_22105insC D0046:g.22104_22105insC IKBKGbase insertion exon 1 IKBKGbase_D0046:g.22108G>T D0046:g.22108G>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22144C>T D0046:g.22144C>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22154A>T D0046:g.22154A>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22154_22155insA D0046:g.22154_22155insA IKBKGbase insertion exon 1 IKBKGbase_D0046:g.22187G>T D0046:g.22187G>T IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22186T>C D0046:g.22186T>C IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22187G>A D0046:g.22187G>A IKBKGbase substitution exon 1 IKBKGbase_D0046:g.22196A>G D0046:g.22196A>G IKBKGbase substitution exon 1 IKBKGbase_D0046:g.19525G>A D0046:g.19525G>A IKBKGbase substitution intron 1 IKBKGbase_D0046:g.21694G>A D0046:g.21694G>A IKBKGbase substitution intron 1 IKBKGbase_D0046:g.21690C>C D0046:g.21690C>C IKBKGbase substitution intron 1 IL12Bbase_D0047:g.9794_9801delTTCGCTCC D0047:g.9794_9801delTTCGCTCC IL12Bbase deletion exon 1 IL12Bbase_D0047:g.9817dupA D0047:g.9817dupA IL12Bbase duplication exon 1 IL12RB1base_D0048:g.4426C>T D0048:g.4426C>T IL12RB1base substitution exon 1 IL12RB1base_D0048:g.25615_25616delinsTT D0048:g.25615_25616delinsTT IL12RB1base complex exon 1 IL12RB1base_D0048:g.5729T>C D0048:g.5729T>C IL12RB1base substitution exon 1 IL12RB1base_D0048:g.10335A>C D0048:g.10335A>C IL12RB1base substitution exon 1 IL12RB1base_D0048:g.15762_15763delinsG D0048:g.15762_15763delinsG IL12RB1base complex exon 1 IL12RB1base_D0048:g.10341G>C D0048:g.10341G>C IL12RB1base substitution exon 1 IL12RB1base_D0048:g.12031T>C D0048:g.12031T>C IL12RB1base substitution exon 1 IL12RB1base_D0048:g.12071G>C D0048:g.12071G>C IL12RB1base substitution exon 1 IL12RB1base_D0048:g.12076C>T D0048:g.12076C>T IL12RB1base substitution exon 1 IL12RB1base_D0048:g.12083_12084dup D0048:g.12083_12084dup IL12RB1base duplication exon 1 IL12RB1base_D0048:g.14298dupC D0048:g.14298dupC IL12RB1base duplication exon 1 IL12RB1base_D0048:g.15668A>T D0048:g.15668A>T IL12RB1base substitution exon 1 IL12RB1base_D0048:g.15717C>A D0048:g.15717C>A IL12RB1base substitution exon 1 IL12RB1base_D0048:g.18253A>G D0048:g.18253A>G IL12RB1base substitution exon 1 IL12RB1base_D0048:g.18279C>T D0048:g.18279C>T IL12RB1base substitution exon 1 IL12RB1base_D0048:g.21319C>T D0048:g.21319C>T IL12RB1base substitution exon 1 IL12RB1base_D0048:g.21529_24538del D0048:g.21529_24538del IL12RB1base deletion intron 1 IL12RB1base_D0048:g.26724_26725dupCA D0048:g.26724_26725dupCA IL12RB1base duplication exon 1 IL12RB1base_D0048:g.1133G>A D0048:g.1133G>A IL12RB1base substitution intron 1 IL12RB1base_D0048:g.10374T>C D0048:g.10374T>C IL12RB1base substitution intron 1 IL12RB1base_D0048:g.11559A>G D0048:g.11559A>G IL12RB1base substitution intron 1 IL12RB1base_D0048:g.11568_11574delinsAGATATCA D0048:g.11568_11574delinsAGATATCA IL12RB1base complex exon 1 IL12RB1base_D0048:g.10290_10306del D0048:g.10290_10306del IL12RB1base deletion exon 1 IL12RB1base_D0048:g.14372G>C D0048:g.14372G>C IL12RB1base substitution intron 1 IL12RB1base_D0048:g.14372G>A D0048:g.14372G>A IL12RB1base substitution intron 1 IL12RB1base_D0048:g.19361G>A D0048:g.19361G>A IL12RB1base substitution intron 1 IL12RB1base_D0048:g.26768T>G D0048:g.26768T>G IL12RB1base substitution intron 1 IL12RB1base_D0048:g.12502_24667del D0048:g.12502_24667del IL12RB1base deletion intron 1 IL2RAbase_D0049:g.37297_37300delGCAG D0049:g.37297_37300delGCAG IL2RAbase deletion exon 1 IL2RAbase_D0049:g.39016C>T D0049:g.39016C>T IL2RAbase substitution exon 1 IL2RAbase_D0049:g.43863dupA D0049:g.43863dupA IL2RAbase duplication exon 1 IL7Rbase_D0050:g.11505T>A D0050:g.11505T>A IL7Rbase substitution exon 1 IL7Rbase_D0050:g.15116C>T D0050:g.15116C>T IL7Rbase substitution exon 1 IL7Rbase_D0050:g.17604C>T D0050:g.17604C>T IL7Rbase substitution exon 1 IL7Rbase_D0050:g.17525G>A D0050:g.17525G>A IL7Rbase substitution intron 1 IL7Rbase_D0050:g.17639G>A D0050:g.17639G>A IL7Rbase substitution exon 1 IRAK4base_D0051:g.11082C>T D0051:g.11082C>T IRAK4base substitution exon 1 IRAK4base_D0051:g.26645G>A D0051:g.26645G>A IRAK4base substitution exon 1 IRAK4base_D0051:g.20686G>T D0051:g.20686G>T IRAK4base substitution intron 1 IRAK4base_D0051:g.11171dupA D0051:g.11171dupA IRAK4base duplication exon 1 IRAK4base_D0051:g.11192C>G D0051:g.11192C>G IRAK4base substitution exon 1 IRAK4base_D0051:g.15989delG D0051:g.15989delG IRAK4base deletion exon 1 IRAK4base_D0051:g.15882delA D0051:g.15882delA IRAK4base deletion exon 1 IRAK4base_D0051:g.15978_15979delAC D0051:g.15978_15979delAC IRAK4base deletion exon 1 IRAK4base_D0051:g.21175C>T D0051:g.21175C>T IRAK4base substitution exon 1 IRAK4base_D0051:g.20671delT D0051:g.20671delT IRAK4base deletion exon 1 IRAK4base_D0051:g.29351G>T D0051:g.29351G>T IRAK4base substitution exon 1 ITGB2base_AL163300.2:g.11109T>A AL163300.2:g.11109T>A ITGB2base substitution exon 1 ITGB2base_D0052:g.33187delT D0052:g.33187delT ITGB2base deletion exon 1 ITGB2base_D0052:g.21401C>A D0052:g.21401C>A ITGB2base substitution intron 1 ITGB2base_AL163300.2:g.11536_11537insC AL163300.2:g.11536_11537insC ITGB2base insertion exon 1 ITGB2base_AL163300.2:g.11538A>T AL163300.2:g.11538A>T ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.33187delT AL163300.2:g.33187delT ITGB2base deletion exon 1 ITGB2base_AL163300.2:g.18418A>C AL163300.2:g.18418A>C ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.18475G>A AL163300.2:g.18475G>A ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.20162G>A AL163300.2:g.20162G>A ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.26924G>C AL163300.2:g.26924G>C ITGB2base substitution intron 1 ITGB2base_D0052:g.32514C>T D0052:g.32514C>T ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.20270_20271insA AL163300.2:g.20270_20271insA ITGB2base insertion exon 1 ITGB2base_D0052:g.21523G>A D0052:g.21523G>A ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.21571G>A AL163300.2:g.21571G>A ITGB2base substitution intron 1 ITGB2base_AL163300.2:g.32393A>G AL163300.2:g.32393A>G ITGB2base substitution intron 1 ITGB2base_AL163300.2:g.31857C>A AL163300.2:g.31857C>A ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.21519C>A AL163300.2:g.21519C>A ITGB2base substitution exon 1 ITGB2base_D0052:g.31752delG D0052:g.31752delG ITGB2base deletion exon 1 ITGB2base_AL163300.2:g.28405delC AL163300.2:g.28405delC ITGB2base deletion exon 1 ITGB2base_D0052:g.33037delG D0052:g.33037delG ITGB2base deletion exon 1 ITGB2base_D0052:g.31877_31912del D0052:g.31877_31912del ITGB2base deletion exon 1 ITGB2base_D0052:g.35107G>T D0052:g.35107G>T ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.32571T>C AL163300.2:g.32571T>C ITGB2base substitution exon 1 ITGB2base_AL163300.2:g.33024delA AL163300.2:g.33024delA ITGB2base deletion exon 1 ITGB2base_AL163300.2:g.11508C>A AL163300.2:g.11508C>A ITGB2base substitution intron 1 ITGB2base_AL163300.2:g.18349C>A AL163300.2:g.18349C>A ITGB2base substitution intron 1 ITGB2base_D0052:g.20145T>G D0052:g.20145T>G ITGB2base substitution intron 1 ITGB2base_D0052:g.21571G>A D0052:g.21571G>A ITGB2base substitution intron 1 ITGB2base_D0052:g.26922G>C D0052:g.26922G>C ITGB2base substitution intron 1 ITGB2base_D0052:g.18318_18486del D0052:g.18318_18486del ITGB2base deletion not within known transcription unit 1 JAK3base_D0095:g.5057A>G D0095:g.5057A>G JAK3base substitution exon 1 JAK3base_D0095:g.16958G>C D0095:g.16958G>C JAK3base substitution intron 1 JAK3base_D0095:g.5164delG D0095:g.5164delG JAK3base deletion exon 1 JAK3base_D0095:g.5227_5229delTGC D0095:g.5227_5229delTGC JAK3base deletion exon 1 JAK3base_D0095:g.6388C>A D0095:g.6388C>A JAK3base substitution exon 1 JAK3base_D0095:g.5228G>C D0095:g.5228G>C JAK3base substitution exon 1 JAK3base_D0095:g.18947delC D0095:g.18947delC JAK3base deletion exon 1 JAK3base_D0095:g.5688A>G D0095:g.5688A>G JAK3base substitution exon 1 JAK3base_D0095:g.6333C>G D0095:g.6333C>G JAK3base substitution exon 1 JAK3base_D0095:g.9168dupG D0095:g.9168dupG JAK3base duplication exon 1 JAK3base_D0095:g.11536C>A D0095:g.11536C>A JAK3base substitution exon 1 JAK3base_D0095:g.9889C>T D0095:g.9889C>T JAK3base substitution exon 1 JAK3base_D0095:g.14828T>C D0095:g.14828T>C JAK3base substitution exon 1 JAK3base_D0095:g.11084A>G D0095:g.11084A>G JAK3base substitution exon 1 JAK3base_D0095:g.11084_11542del D0095:g.11084_11542del JAK3base deletion not within known transcription unit 1 JAK3base_D0095:g.11210G>A D0095:g.11210G>A JAK3base substitution exon 1 JAK3base_D0095:g.12303C>T D0095:g.12303C>T JAK3base substitution exon 1 JAK3base_D0095:g.12324G>A D0095:g.12324G>A JAK3base substitution exon 1 JAK3base_D0095:g.12326C>T D0095:g.12326C>T JAK3base substitution exon 1 JAK3base_D0095:g.14295C>T D0095:g.14295C>T JAK3base substitution exon 1 JAK3base_D0095:g.14503G>A D0095:g.14503G>A JAK3base substitution exon 1 JAK3base_D0095:g.14488C>T D0095:g.14488C>T JAK3base substitution exon 1 JAK3base_D0095:g.14543A>C D0095:g.14543A>C JAK3base substitution exon 1 JAK3base_D0095:g.18135T>G D0095:g.18135T>G JAK3base substitution exon 1 JAK3base_D0095:g.14587G>A D0095:g.14587G>A JAK3base substitution exon 1 JAK3base_D0095:g.14849C>T D0095:g.14849C>T JAK3base substitution exon 1 JAK3base_D0095:g.14864C>T D0095:g.14864C>T JAK3base substitution exon 1 JAK3base_D0095:g.17724T>C D0095:g.17724T>C JAK3base substitution exon 1 JAK3base_D0095:g.18944C>A D0095:g.18944C>A JAK3base substitution exon 1 JAK3base_D0095:g.18229C>T D0095:g.18229C>T JAK3base substitution exon 1 JAK3base_D0095:g.11082A>G D0095:g.11082A>G JAK3base substitution intron 1 JAK3base_D0095:g.13422G>A D0095:g.13422G>A JAK3base substitution intron 1 JAK3base_D0095:g.14515G>T D0095:g.14515G>T JAK3base substitution exon 1 JAK3base_D0095:g.14905T>C D0095:g.14905T>C JAK3base substitution intron 1 JAK3base_D0095:g.18973T>A D0095:g.18973T>A JAK3base substitution intron 1 JAK3base_D0095:g.19255G>A D0095:g.19255G>A JAK3base substitution intron 1 LIG1base_D0053:g.38293G>A D0053:g.38293G>A LIG1base substitution exon 1 LIG1base_D0053:g.50060C>T D0053:g.50060C>T LIG1base substitution exon 1 LIG4base_D0054:g.4522C>T D0054:g.4522C>T LIG4base substitution exon 1 LIG4base_D0054:g.4540C>T D0054:g.4540C>T LIG4base substitution exon 1 LIG4base_D0054:g.5347G>A D0054:g.5347G>A LIG4base substitution exon 1 LIG4base_D0054:g.5259A>G D0054:g.5259A>G LIG4base substitution exon 1 LIG4base_D0054:g.5784_5788delAAAAG D0054:g.5784_5788delAAAAG LIG4base deletion exon 1 LIG4base_D0054:g.5353A>G D0054:g.5353A>G LIG4base substitution exon 1 LIG4base_D0054:g.5785_5789delAAAGA D0054:g.5785_5789delAAAGA LIG4base deletion exon 1 LIG4base_D0054:g.5359A>T D0054:g.5359A>T LIG4base substitution exon 1 LIG4base_D0054:g.5811_5813delCAA D0054:g.5811_5813delCAA LIG4base deletion exon 1 LIG4base_D0054:g.5920G>A D0054:g.5920G>A LIG4base substitution exon 1 LIG4base_D0054:g.6954C>T D0054:g.6954C>T LIG4base substitution exon 1 LIG4base_D0054:g.6252C>T D0054:g.6252C>T LIG4base substitution exon 1 LRRC8Abase_D0055:g.2347_12872del D0055:g.2347_12872del LRRC8Abase deletion not within known transcription unit 1 LYSTbase_D0020:g.37626_37627insG D0020:g.37626_37627insG LYSTbase insertion exon 1 LYSTbase_D0020:g.37656C>T D0020:g.37656C>T LYSTbase substitution exon 1 LYSTbase_D0020:g.57683dupT D0020:g.57683dupT LYSTbase duplication exon 1 LYSTbase_D0020:g.58575delG D0020:g.58575delG LYSTbase deletion exon 1 LYSTbase_D0020:g.58648C>T D0020:g.58648C>T LYSTbase substitution exon 1 LYSTbase_D0020:g.155837delT D0020:g.155837delT LYSTbase deletion exon 1 LYSTbase_D0020:g.59010_59011insA D0020:g.59010_59011insA LYSTbase insertion exon 1 LYSTbase_D0020:g.61244delA D0020:g.61244delA LYSTbase deletion exon 1 LYSTbase_D0020:g.61410delT D0020:g.61410delT LYSTbase deletion exon 1 LYSTbase_D0020:g.61863_61864delAA D0020:g.61863_61864delAA LYSTbase deletion exon 1 LYSTbase_D0020:g.61875C>T D0020:g.61875C>T LYSTbase substitution exon 1 LYSTbase_D0020:g.62100C>T D0020:g.62100C>T LYSTbase substitution exon 1 LYSTbase_D0020:g.63300_63301insA D0020:g.63300_63301insA LYSTbase insertion exon 1 LYSTbase_D0020:g.64928C>T D0020:g.64928C>T LYSTbase substitution exon 1 LYSTbase_D0020:g.190799G>T D0020:g.190799G>T LYSTbase substitution exon 1 LYSTbase_D0020:g.74359C>G D0020:g.74359C>G LYSTbase substitution exon 1 LYSTbase_D0020:g.75958delT D0020:g.75958delT LYSTbase deletion exon 1 LYSTbase_D0020:g.133336G>A D0020:g.133336G>A LYSTbase substitution exon 1 LYSTbase_D0020:g.86908T>A D0020:g.86908T>A LYSTbase substitution exon 1 LYSTbase_D0020:g.76045C>A D0020:g.76045C>A LYSTbase substitution exon 1 LYSTbase_D0020:g.79225G>A D0020:g.79225G>A LYSTbase substitution exon 1 LYSTbase_D0020:g.85980delA D0020:g.85980delA LYSTbase deletion exon 1 LYSTbase_D0020:g.90720delA D0020:g.90720delA LYSTbase deletion exon 1 LYSTbase_D0020:g.143810_143811ins10 D0020:g.143810_143811ins10 LYSTbase insertion exon 1 LYSTbase_D0020:g.92898delC D0020:g.92898delC LYSTbase deletion exon 1 LYSTbase_D0020:g.101722T>A D0020:g.101722T>A LYSTbase substitution exon 1 LYSTbase_D0020:g.101804C>A D0020:g.101804C>A LYSTbase substitution exon 1 LYSTbase_D0020:g.112279_112285delCTATTAG D0020:g.112279_112285delCTATTAG LYSTbase deletion exon 1 LYSTbase_D0020:g.115849delT D0020:g.115849delT LYSTbase deletion exon 1 LYSTbase_D0020:g.134067G>A D0020:g.134067G>A LYSTbase substitution exon 1 LYSTbase_D0020:g.151177delA D0020:g.151177delA LYSTbase deletion exon 1 LYSTbase_D0020:g.170674delA D0020:g.170674delA LYSTbase deletion exon 1 MAPBPIPbase_D0123:g.4581C>A D0123:g.4581C>A MAPBPIPbase substitution exon 1 MASP2base_D0056:g.1630A>G D0056:g.1630A>G MASP2base substitution exon 1 MLPHbase_D0059:g.7243C>T D0059:g.7243C>T MLPHbase substitution exon 1 MPObase_D0060:g.3520delA D0060:g.3520delA MPObase deletion exon 1 MPObase_D0060:g.3899A>G D0060:g.3899A>G MPObase substitution exon 1 MPObase_D0060:g.4311T>C D0060:g.4311T>C MPObase substitution exon 1 MPObase_D0060:g.9953_9966del D0060:g.9953_9966del MPObase deletion exon 1 MPObase_D0060:g.10600C>T D0060:g.10600C>T MPObase substitution exon 1 MPObase_D0060:g.5414C>T D0060:g.5414C>T MPObase substitution exon 1 MPObase_D0060:g.10610T>G D0060:g.10610T>G MPObase substitution exon 1 MPObase_D0060:g.5531A>G D0060:g.5531A>G MPObase substitution exon 1 MPObase_D0060:g.9896C>T D0060:g.9896C>T MPObase substitution exon 1 MPObase_D0060:g.9902G>A D0060:g.9902G>A MPObase substitution exon 1 MPObase_D0060:g.12564A>C D0060:g.12564A>C MPObase substitution intron 1 MPObase_D0060:g.11675T>C D0060:g.11675T>C MPObase substitution exon 1 MRE11Abase_D0061:g.15119A>G D0061:g.15119A>G MRE11Abase substitution exon 1 MRE11Abase_D0061:g.47557C>T D0061:g.47557C>T MRE11Abase substitution exon 1 MRE11Abase_D0061:g.15981dupT D0061:g.15981dupT MRE11Abase duplication exon 1 MRE11Abase_D0061:g.23153T>C D0061:g.23153T>C MRE11Abase substitution exon 1 MRE11Abase_D0061:g.27037G>A D0061:g.27037G>A MRE11Abase substitution intron 1 MRE11Abase_D0061:g.18527G>C D0061:g.18527G>C MRE11Abase substitution exon 1 MRE11Abase_D0061:g.35379C>A D0061:g.35379C>A MRE11Abase substitution exon 1 MRE11Abase_D0061:g.57639C>T D0061:g.57639C>T MRE11Abase substitution exon 1 MYO5Abase_D0062:g.153616C>T D0062:g.153616C>T MYO5Abase substitution exon 1 MYO5Abase_D0062:g.178684C>T D0062:g.178684C>T MYO5Abase substitution exon 1 NCF1base_D0099:g.4249_4250delGT D0099:g.4249_4250delGT NCF1base deletion exon 1 NCF1base_D0099:g.9966delG D0099:g.9966delG NCF1base deletion exon 1 NCF1base_D0099:g.6278C>T D0099:g.6278C>T NCF1base substitution exon 1 NCF1base_D0099:g.1085G>A D0099:g.1085G>A NCF1base substitution intron 1 NCF1base_D0099:g.1087G>T D0099:g.1087G>T NCF1base substitution intron 1 NCF1base_D0099:g.12263G>A D0099:g.12263G>A NCF1base substitution exon 1 NCF1base_D0099:g.4299G>A D0099:g.4299G>A NCF1base substitution exon 1 NCF1base_D0099:g.6360_6361delinsAA D0099:g.6360_6361delinsAA NCF1base complex exon 1 NCF1base_D0099:g.6340T>A D0099:g.6340T>A NCF1base substitution exon 1 NCF1base_D0099:g.10506G>A D0099:g.10506G>A NCF1base substitution exon 1 NCF1base_D0099:g.5779_8636del D0099:g.5779_8636del NCF1base deletion intron 1 NCF1base_D0099:g.10610G>C D0099:g.10610G>C NCF1base substitution intron 1 NCF1base_D0099:g.10531C>T D0099:g.10531C>T NCF1base substitution exon 1 NCF1base_D0099:g.12209G>A D0099:g.12209G>A NCF1base substitution exon 1 NCF1base_D0099:g.10038G>A D0099:g.10038G>A NCF1base substitution exon 1 NCF1base_D0099:g.14999delC D0099:g.14999delC NCF1base deletion exon 1 NCF1base_D0099:g.14972delG D0099:g.14972delG NCF1base deletion exon 1 NCF1base_D0099:g.4328G>A D0099:g.4328G>A NCF1base substitution intron 1 NCF1base_D0099:g.10539G>A D0099:g.10539G>A NCF1base substitution exon 1 NCF1base_D0099:g.10605T>G D0099:g.10605T>G NCF1base substitution exon 1 NCF1base_D0099:g.12213_12227del D0099:g.12213_12227del NCF1base deletion exon 1 NCF1base_D0099:g.14998delC D0099:g.14998delC NCF1base deletion exon 1 NFKBIAbase_D0063:g.1189G>T D0063:g.1189G>T NFKBIAbase substitution exon 1 NFKBIAbase_D0063:g.1134G>T D0063:g.1134G>T NFKBIAbase substitution exon 1 NHEJ1base_D0113:g.13476dupT D0113:g.13476dupT NHEJ1base duplication exon 1 NHEJ1base_D0113:g.13634C>G D0113:g.13634C>G NHEJ1base substitution exon 1 NHEJ1base_D0113:g.14333T>C D0113:g.14333T>C NHEJ1base substitution exon 1 NHEJ1base_D0113:g.13642delG D0113:g.13642delG NHEJ1base deletion exon 1 NHEJ1base_D0113:g.13645A>T D0113:g.13645A>T NHEJ1base substitution intron 1 NHEJ1base_D0113:g.24137dupA D0113:g.24137dupA NHEJ1base duplication exon 1 NHEJ1base_D0113:g.24168C>T D0113:g.24168C>T NHEJ1base substitution exon 1 NHEJ1base_D0113:g.25092C>T D0113:g.25092C>T NHEJ1base substitution exon 1 NPbase_D0064:g.3957C>T D0064:g.3957C>T NPbase substitution exon 1 NPbase_D0064:g.4059C>T D0064:g.4059C>T NPbase substitution exon 1 NPbase_D0064:g.6167G>A D0064:g.6167G>A NPbase substitution intron 1 NPbase_D0064:g.8091C>G D0064:g.8091C>G NPbase substitution exon 1 NPbase_D0064:g.4068G>T D0064:g.4068G>T NPbase substitution exon 1 NPbase_D0064:g.8023G>C D0064:g.8023G>C NPbase substitution exon 1 NPbase_D0064:g.6093G>A D0064:g.6093G>A NPbase substitution exon 1 NPbase_D0064:g.6146G>A D0064:g.6146G>A NPbase substitution exon 1 NPbase_D0064:g.6711G>C D0064:g.6711G>C NPbase substitution exon 1 NPbase_D0064:g.6427G>A D0064:g.6427G>A NPbase substitution exon 1 NPbase_D0064:g.6461A>G D0064:g.6461A>G NPbase substitution exon 1 NPbase_D0064:g.6463_6465delATC D0064:g.6463_6465delATC NPbase deletion exon 1 NPbase_D0064:g.6658G>C D0064:g.6658G>C NPbase substitution exon 1 NPbase_D0064:g.6666T>G D0064:g.6666T>G NPbase substitution exon 1 NPbase_D0064:g.6678T>C D0064:g.6678T>C NPbase substitution exon 1 NPbase_D0064:g.6760G>T D0064:g.6760G>T NPbase substitution exon 1 NPbase_D0064:g.6766A>G D0064:g.6766A>G NPbase substitution exon 1 NPbase_D0064:g.8052delA D0064:g.8052delA NPbase deletion exon 1 NPbase_D0064:g.6346G>A D0064:g.6346G>A NPbase substitution intron 1 NRASbase_D0125:g.40791G>A D0125:g.40791G>A NRASbase substitution exon 1 ORAI1base_D0114:g.1133_1134insA D0114:g.1133_1134insA ORAI1base insertion exon 1 ORAI1base_D0114:g.15176C>A D0114:g.15176C>A ORAI1base substitution exon 1 ORAI1base_D0114:g.15449T>C D0114:g.15449T>C ORAI1base substitution exon 1 PRF1base_D0067:g.3276G>A D0067:g.3276G>A PRF1base substitution exon 1 PRF1base_D0067:g.3481G>T D0067:g.3481G>T PRF1base substitution exon 1 PRF1base_D0067:g.3458_3468del D0067:g.3458_3468del PRF1base deletion exon 1 PRF1base_D0067:g.3274A>G D0067:g.3274A>G PRF1base substitution exon 1 PRF1base_D0067:g.5404G>A D0067:g.5404G>A PRF1base substitution exon 1 PRF1base_D0067:g.3284G>A D0067:g.3284G>A PRF1base substitution exon 1 PRF1base_D0067:g.3323delT D0067:g.3323delT PRF1base deletion exon 1 PRF1base_D0067:g.5897A>C D0067:g.5897A>C PRF1base substitution exon 1 PRF1base_D0067:g.3490T>C D0067:g.3490T>C PRF1base substitution exon 1 PRF1base_D0067:g.3407G>A D0067:g.3407G>A PRF1base substitution exon 1 PRF1base_D0067:g.5113G>A D0067:g.5113G>A PRF1base substitution exon 1 PRF1base_D0067:g.3385G>A D0067:g.3385G>A PRF1base substitution exon 1 PRF1base_D0067:g.3545C>T D0067:g.3545C>T PRF1base substitution exon 1 PRF1base_D0067:g.3389C>A D0067:g.3389C>A PRF1base substitution exon 1 PRF1base_D0067:g.3718G>A D0067:g.3718G>A PRF1base substitution exon 1 PRF1base_D0067:g.3406G>A D0067:g.3406G>A PRF1base substitution exon 1 PRF1base_D0067:g.3433C>T D0067:g.3433C>T PRF1base substitution exon 1 PRF1base_D0067:g.3421G>A D0067:g.3421G>A PRF1base substitution exon 1 PRF1base_D0067:g.5112C>A D0067:g.5112C>A PRF1base substitution exon 1 PRF1base_D0067:g.3463C>T D0067:g.3463C>T PRF1base substitution exon 1 PRF1base_D0067:g.3480delC D0067:g.3480delC PRF1base deletion exon 1 PRF1base_D0067:g.5577G>A D0067:g.5577G>A PRF1base substitution exon 1 PRF1base_D0067:g.5545_5546delCT D0067:g.5545_5546delCT PRF1base deletion exon 1 PRF1base_D0067:g.5683C>T D0067:g.5683C>T PRF1base substitution exon 1 PRF1base_D0067:g.3538C>A D0067:g.3538C>A PRF1base substitution exon 1 PRF1base_D0067:g.5150G>A D0067:g.5150G>A PRF1base substitution exon 1 PRF1base_D0067:g.5717T>G D0067:g.5717T>G PRF1base substitution exon 1 PRF1base_D0067:g.3556T>C D0067:g.3556T>C PRF1base substitution exon 1 PRF1base_D0067:g.3578G>T D0067:g.3578G>T PRF1base substitution exon 1 PRF1base_D0067:g.3641G>A D0067:g.3641G>A PRF1base substitution exon 1 PRF1base_D0067:g.5350C>T D0067:g.5350C>T PRF1base substitution exon 1 PRF1base_D0067:g.5536A>T D0067:g.5536A>T PRF1base substitution exon 1 PRF1base_D0067:g.5241_5256del D0067:g.5241_5256del PRF1base deletion exon 1 PRF1base_D0067:g.3722C>A D0067:g.3722C>A PRF1base substitution exon 1 PRF1base_D0067:g.5128C>T D0067:g.5128C>T PRF1base substitution exon 1 PRF1base_D0067:g.3742T>G D0067:g.3742T>G PRF1base substitution exon 1 PRF1base_D0067:g.6083_6084insT D0067:g.6083_6084insT PRF1base insertion exon 1 PRF1base_D0067:g.3776G>A D0067:g.3776G>A PRF1base substitution exon 1 PRF1base_D0067:g.5804C>T D0067:g.5804C>T PRF1base substitution exon 1 PRF1base_D0067:g.3802C>T D0067:g.3802C>T PRF1base substitution exon 1 PRF1base_D0067:g.5003T>G D0067:g.5003T>G PRF1base substitution exon 1 PRF1base_D0067:g.5291G>A D0067:g.5291G>A PRF1base substitution exon 1 PRF1base_D0067:g.5032T>C D0067:g.5032T>C PRF1base substitution exon 1 PRF1base_D0067:g.5684G>C D0067:g.5684G>C PRF1base substitution exon 1 PRF1base_D0067:g.5056C>A D0067:g.5056C>A PRF1base substitution exon 1 PRF1base_D0067:g.5308_5310delAAG D0067:g.5308_5310delAAG PRF1base deletion exon 1 PRF1base_D0067:g.5113G>C D0067:g.5113G>C PRF1base substitution exon 1 PRF1base_D0067:g.5117C>T D0067:g.5117C>T PRF1base substitution exon 1 PRF1base_D0067:g.5121C>A D0067:g.5121C>A PRF1base substitution exon 1 PRF1base_D0067:g.6091delC D0067:g.6091delC PRF1base deletion exon 1 PRF1base_D0067:g.5120A>G D0067:g.5120A>G PRF1base substitution exon 1 PRF1base_D0067:g.5126T>A D0067:g.5126T>A PRF1base substitution exon 1 PRF1base_D0067:g.5741G>A D0067:g.5741G>A PRF1base substitution exon 1 PRF1base_D0067:g.5149C>T D0067:g.5149C>T PRF1base substitution exon 1 PRF1base_D0067:g.5636_5637insT D0067:g.5636_5637insT PRF1base insertion exon 1 PRF1base_D0067:g.5645_5646insTG D0067:g.5645_5646insTG PRF1base insertion exon 1 PRF1base_D0067:g.5173C>G D0067:g.5173C>G PRF1base substitution exon 1 PRF1base_D0067:g.5210A>G D0067:g.5210A>G PRF1base substitution exon 1 PRF1base_D0067:g.5236G>A D0067:g.5236G>A PRF1base substitution exon 1 PRF1base_D0067:g.5306_5317del D0067:g.5306_5317del PRF1base deletion exon 1 PRF1base_D0067:g.5369G>A D0067:g.5369G>A PRF1base substitution exon 1 PRF1base_D0067:g.5521C>T D0067:g.5521C>T PRF1base substitution exon 1 PRF1base_D0067:g.5371G>A D0067:g.5371G>A PRF1base substitution exon 1 PRF1base_D0067:g.5743G>T D0067:g.5743G>T PRF1base substitution exon 1 PRF1base_D0067:g.5489C>T D0067:g.5489C>T PRF1base substitution exon 1 PRF1base_D0067:g.5538delG D0067:g.5538delG PRF1base deletion exon 1 PRF1base_D0067:g.5946T>A D0067:g.5946T>A PRF1base substitution exon 1 PRF1base_D0067:g.5701C>T D0067:g.5701C>T PRF1base substitution exon 1 PRF1base_D0067:g.5759C>T D0067:g.5759C>T PRF1base substitution exon 1 PRF1base_D0067:g.5831C>T D0067:g.5831C>T PRF1base substitution exon 1 PRF1base_D0067:g.5884C>G D0067:g.5884C>G PRF1base substitution exon 1 PRF1base_D0067:g.5926G>A D0067:g.5926G>A PRF1base substitution exon 1 PRF1base_D0067:g.6023C>A D0067:g.6023C>A PRF1base substitution exon 1 PRF1base_D0067:g.6031delT D0067:g.6031delT PRF1base deletion exon 1 PTPRCbase_D0068:g.58675C>A D0068:g.58675C>A PTPRCbase substitution exon 1 PTPRCbase_D0068:g.58693C>G D0068:g.58693C>G PTPRCbase substitution exon 1 PTPRCbase_D0068:g.71646_71651delATGAGT D0068:g.71646_71651delATGAGT PTPRCbase deletion exon 1 PTPRCbase_D0068:g.78746G>A D0068:g.78746G>A PTPRCbase substitution intron 1 RAB27Abase_D0069:g.36721_36722delCT D0069:g.36721_36722delCT RAB27Abase deletion exon 1 RAB27Abase_D0069:g.36735A>G D0069:g.36735A>G RAB27Abase substitution exon 1 RAB27Abase_D0069:g.36797G>A D0069:g.36797G>A RAB27Abase substitution exon 1 RAB27Abase_D0069:g.36801T>C D0069:g.36801T>C RAB27Abase substitution exon 1 RAB27Abase_D0069:g.36819delG D0069:g.36819delG RAB27Abase deletion exon 1 RAB27Abase_D0069:g.36818_36819delinsC D0069:g.36818_36819delinsC RAB27Abase complex exon 1 RAB27Abase_D0069:g.41182T>G D0069:g.41182T>G RAB27Abase substitution exon 1 RAB27Abase_D0069:g.41204G>C D0069:g.41204G>C RAB27Abase substitution exon 1 RAB27Abase_D0069:g.65982C>T D0069:g.65982C>T RAB27Abase substitution exon 1 RAB27Abase_D0069:g.42993delA D0069:g.42993delA RAB27Abase deletion exon 1 RAB27Abase_D0069:g.47595C>T D0069:g.47595C>T RAB27Abase substitution exon 1 RAB27Abase_D0069:g.47601C>T D0069:g.47601C>T RAB27Abase substitution exon 1 RAB27Abase_D0069:g.47717G>C D0069:g.47717G>C RAB27Abase substitution intron 1 RAB27Abase_D0069:g.47638T>C D0069:g.47638T>C RAB27Abase substitution exon 1 RAB27Abase_D0069:g.47649_47650delAA D0069:g.47649_47650delAA RAB27Abase deletion exon 1 RAB27Abase_D0069:g.47703G>C D0069:g.47703G>C RAB27Abase substitution exon 1 RAB27Abase_D0069:g.65942_65946delAAGCC D0069:g.65942_65946delAAGCC RAB27Abase deletion exon 1 RAB27Abase_D0069:g.65946_65950delCAAGC D0069:g.65946_65950delCAAGC RAB27Abase deletion exon 1 RAB27Abase_D0069:g.66030C>T D0069:g.66030C>T RAB27Abase substitution exon 1 RAB27Abase_D0069:g.41207A>G D0069:g.41207A>G RAB27Abase substitution intron 1 RAB27Abase_AF443871.1:g.42891A>C AF443871.1:g.42891A>C RAB27Abase substitution intron 1 RAC2base_D0070:g.12413G>A D0070:g.12413G>A RAC2base substitution exon 1 RAG1base_RAG1_DNA:g.6546_6548delCTA RAG1_DNA:g.6546_6548delCTA RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.8438C>T RAG1_DNA:g.8438C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8779_8780delinsTT RAG1_DNA:g.8779_8780delinsTT RAG1base complex exon 1 RAG1base_HSRAG1:g.368_369delAA HSRAG1:g.368_369delAA RAG1base deletion exon 1 RAG1base_HSRAG1:g.1398A>G HSRAG1:g.1398A>G RAG1base substitution exon 1 RAG1base_HSRAG1:g.1982C>T HSRAG1:g.1982C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.2038_2039ins HSRAG1:g.2038_2039ins RAG1base insertion exon 1 RAG1base_HSRAG1:g.2276G>A HSRAG1:g.2276G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.6548_6549delAA RAG1_DNA:g.6548_6549delAA RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.7291T>A RAG1_DNA:g.7291T>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.6698A>C RAG1_DNA:g.6698A>C RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.6867G>A RAG1_DNA:g.6867G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.6716C>T RAG1_DNA:g.6716C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7479G>A RAG1_DNA:g.7479G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.631delT HSRAG1:g.631delT RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.6811delT RAG1_DNA:g.6811delT RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.7034C>T RAG1_DNA:g.7034C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8813C>T RAG1_DNA:g.8813C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7057delA RAG1_DNA:g.7057delA RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.7503G>A RAG1_DNA:g.7503G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.887delA HSRAG1:g.887delA RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.7232C>T RAG1_DNA:g.7232C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7811C>T RAG1_DNA:g.7811C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8502G>A RAG1_DNA:g.8502G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1095G>A HSRAG1:g.1095G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1173delT HSRAG1:g.1173delT RAG1base deletion exon 1 RAG1base_HSRAG1:g.2727T>A HSRAG1:g.2727T>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1258delA HSRAG1:g.1258delA RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.7472C>T RAG1_DNA:g.7472C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.1298C>T HSRAG1:g.1298C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.2766T>G HSRAG1:g.2766T>G RAG1base substitution exon 1 RAG1base_HSRAG1:g.2847A>G HSRAG1:g.2847A>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7478C>T RAG1_DNA:g.7478C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8946T>G RAG1_DNA:g.8946T>G RAG1base substitution exon 1 RAG1base_HSRAG1:g.1299G>A HSRAG1:g.1299G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1723_1735del HSRAG1:g.1723_1735del RAG1base deletion exon 1 RAG1base_HSRAG1:g.1299G>T HSRAG1:g.1299G>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.3036G>A HSRAG1:g.3036G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7973C>T RAG1_DNA:g.7973C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7502C>T RAG1_DNA:g.7502C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8915delT RAG1_DNA:g.8915delT RAG1base deletion exon 1 RAG1base_HSRAG1:g.1341G>A HSRAG1:g.1341G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.2633C>T HSRAG1:g.2633C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.1409G>A HSRAG1:g.1409G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1443C>T HSRAG1:g.1443C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.1415A>G HSRAG1:g.1415A>G RAG1base substitution exon 1 RAG1base_HSRAG1:g.1789G>T HSRAG1:g.1789G>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7638G>A RAG1_DNA:g.7638G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1521_1522delGC HSRAG1:g.1521_1522delGC RAG1base deletion exon 1 RAG1base_HSRAG1:g.1533G>A HSRAG1:g.1533G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.2370A>T HSRAG1:g.2370A>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7713G>A RAG1_DNA:g.7713G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8481G>T RAG1_DNA:g.8481G>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8162C>T RAG1_DNA:g.8162C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7712C>A RAG1_DNA:g.7712C>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8156G>C RAG1_DNA:g.8156G>C RAG1base substitution exon 1 RAG1base_HSRAG1:g.1631C>T HSRAG1:g.1631C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.1793C>T HSRAG1:g.1793C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.1678G>T HSRAG1:g.1678G>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7969G>T RAG1_DNA:g.7969G>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8981C>T RAG1_DNA:g.8981C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.1794G>A HSRAG1:g.1794G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.2322G>A HSRAG1:g.2322G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7974G>A RAG1_DNA:g.7974G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.7986C>A RAG1_DNA:g.7986C>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.1879C>G HSRAG1:g.1879C>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8059C>G RAG1_DNA:g.8059C>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8098T>G RAG1_DNA:g.8098T>G RAG1base substitution exon 1 RAG1base_HSRAG1:g.1983G>A HSRAG1:g.1983G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.2801C>T HSRAG1:g.2801C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8163G>A RAG1_DNA:g.8163G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9266A>G RAG1_DNA:g.9266A>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8239delT RAG1_DNA:g.8239delT RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.8294delC RAG1_DNA:g.8294delC RAG1base deletion exon 1 RAG1base_HSRAG1:g.2118A>G HSRAG1:g.2118A>G RAG1base substitution exon 1 RAG1base_HSRAG1:g.2812C>A HSRAG1:g.2812C>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.2182_2189delAATGCTTG HSRAG1:g.2182_2189delAATGCTTG RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.8418G>A RAG1_DNA:g.8418G>A RAG1base substitution exon 1 RAG1base_HSRAG1:g.2432G>T HSRAG1:g.2432G>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8486C>T RAG1_DNA:g.8486C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8619G>A RAG1_DNA:g.8619G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9227_9229delGCC RAG1_DNA:g.9227_9229delGCC RAG1base deletion exon 1 RAG1base_RAG1_DNA:g.8624C>G RAG1_DNA:g.8624C>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9267A>G RAG1_DNA:g.9267A>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8625G>A RAG1_DNA:g.8625G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9215C>T RAG1_DNA:g.9215C>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8624C>T RAG1_DNA:g.8624C>T RAG1base substitution exon 1 RAG1base_HSRAG1:g.2676A>T HSRAG1:g.2676A>T RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.8978T>C RAG1_DNA:g.8978T>C RAG1base substitution exon 1 RAG1base_HSRAG1:g.2926T>G HSRAG1:g.2926T>G RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9159T>C RAG1_DNA:g.9159T>C RAG1base substitution exon 1 RAG1base_HSRAG1:g.2988G>A HSRAG1:g.2988G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9210G>A RAG1_DNA:g.9210G>A RAG1base substitution exon 1 RAG1base_RAG1_DNA:g.9234A>C RAG1_DNA:g.9234A>C RAG1base substitution exon 1 RAG2base_RAG2_DNA:g.5114C>T RAG2_DNA:g.5114C>T RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1305G>T HSRAG2X:g.1305G>T RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5172G>T RAG2_DNA:g.5172G>T RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1316A>G HSRAG2X:g.1316A>G RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1887G>A HSRAG2X:g.1887G>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5183A>G RAG2_DNA:g.5183A>G RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5754G>A RAG2_DNA:g.5754G>A RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1324C>G HSRAG2X:g.1324C>G RAG2base substitution exon 1 RAG2base_HSRAG2X:g.2055T>G HSRAG2X:g.2055T>G RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5298C>A RAG2_DNA:g.5298C>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6420G>C RAG2_DNA:g.6420G>C RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1484G>A HSRAG2X:g.1484G>A RAG2base substitution exon 1 RAG2base_HSRAG2X:g.2558T>A HSRAG2X:g.2558T>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5351G>A RAG2_DNA:g.5351G>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5753C>T RAG2_DNA:g.5753C>T RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1664_1665insTGTTC HSRAG2X:g.1664_1665insTGTTC RAG2base insertion exon 1 RAG2base_HSRAG2X:g.1643C>T HSRAG2X:g.1643C>T RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1818T>G HSRAG2X:g.1818T>G RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5547C>T RAG2_DNA:g.5547C>T RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6572A>G RAG2_DNA:g.6572A>G RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5649C>A RAG2_DNA:g.5649C>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5651T>G RAG2_DNA:g.5651T>G RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5712C>T RAG2_DNA:g.5712C>T RAG2base substitution exon 1 RAG2base_HSRAG2X:g.1886C>T HSRAG2X:g.1886C>T RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5780delG RAG2_DNA:g.5780delG RAG2base deletion exon 1 RAG2base_RAG2_DNA:g.6388A>C RAG2_DNA:g.6388A>C RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.5826C>G RAG2_DNA:g.5826C>G RAG2base substitution exon 1 RAG2base_HSRAG2X:g.2018_2020delATT HSRAG2X:g.2018_2020delATT RAG2base deletion exon 1 RAG2base_HSRAG2X:g.2122G>A HSRAG2X:g.2122G>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6287G>T RAG2_DNA:g.6287G>T RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6315G>T RAG2_DNA:g.6315G>T RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6425T>A RAG2_DNA:g.6425T>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6434G>A RAG2_DNA:g.6434G>A RAG2base substitution exon 1 RAG2base_HSRAG2X:g.2622A>G HSRAG2X:g.2622A>G RAG2base substitution exon 1 RAG2base_HSRAG2X:g.2634G>A HSRAG2X:g.2634G>A RAG2base substitution exon 1 RAG2base_RAG2_DNA:g.6510A>C RAG2_DNA:g.6510A>C RAG2base substitution exon 1 RASGRP2base_D0127:g.16936C>A D0127:g.16936C>A RASGRP2base substitution intron 1 RFX5base_D0073:g.32168G>A D0073:g.32168G>A RFX5base substitution exon 1 RFX5base_D0073:g.33455C>T D0073:g.33455C>T RFX5base substitution exon 1 RFX5base_D0073:g.33536C>T D0073:g.33536C>T RFX5base substitution exon 1 RFX5base_D0073:g.30412G>A D0073:g.30412G>A RFX5base substitution intron 1 RFX5base_D0073:g.31423G>A D0073:g.31423G>A RFX5base substitution intron 1 RFX5base_D0073:g.31764G>A D0073:g.31764G>A RFX5base substitution intron 1 RFXANKbase_D0074:g.5932G>T D0074:g.5932G>T RFXANKbase substitution exon 1 RFXANKbase_D0074:g.6259A>T D0074:g.6259A>T RFXANKbase substitution exon 1 RFXANKbase_D0074:g.6280delT D0074:g.6280delT RFXANKbase deletion exon 1 RFXANKbase_D0074:g.6820G>T D0074:g.6820G>T RFXANKbase substitution intron 1 RFXANKbase_D0074:g.6851C>T D0074:g.6851C>T RFXANKbase substitution exon 1 RFXANKbase_D0074:g.7390T>C D0074:g.7390T>C RFXANKbase substitution exon 1 RFXANKbase_D0074:g.7870C>T D0074:g.7870C>T RFXANKbase substitution exon 1 RFXANKbase_D0074:g.5761G>C D0074:g.5761G>C RFXANKbase substitution intron 1 RFXANKbase_D0074:g.5765G>A D0074:g.5765G>A RFXANKbase substitution intron 1 RFXANKbase_D0074:g.6210_6235del D0074:g.6210_6235del RFXANKbase deletion not within known transcription unit 1 RFXANKbase_D0074:g.6313_6370del D0074:g.6313_6370del RFXANKbase deletion not within known transcription unit 1 RFXAPbase_D0075:g.52509_52510insGCGGGGC D0075:g.52509_52510insGCGGGGC RFXAPbase insertion exon 1 RFXAPbase_D0075:g.52638C>T D0075:g.52638C>T RFXAPbase substitution exon 1 RFXAPbase_D0075:g.52843delG D0075:g.52843delG RFXAPbase deletion exon 1 SBDSbase_D0076:g.1240G>A D0076:g.1240G>A SBDSbase substitution exon 1 SBDSbase_D0076:g.2392T>C D0076:g.2392T>C SBDSbase substitution intron 1 SBDSbase_D0076:g.1263T>C D0076:g.1263T>C SBDSbase substitution exon 1 SBDSbase_D0076:g.2315_2316delinsCT D0076:g.2315_2316delinsCT SBDSbase complex exon 1 SBDSbase_D0076:g.1277C>G D0076:g.1277C>G SBDSbase substitution exon 1 SBDSbase_D0076:g.1279A>G D0076:g.1279A>G SBDSbase substitution exon 1 SBDSbase_D0076:g.1281A>G D0076:g.1281A>G SBDSbase substitution exon 1 SBDSbase_D0076:g.1285A>T D0076:g.1285A>T SBDSbase substitution exon 1 SBDSbase_D0076:g.1285A>G D0076:g.1285A>G SBDSbase substitution exon 1 SBDSbase_D0076:g.1284dupA D0076:g.1284dupA SBDSbase duplication exon 1 SBDSbase_D0076:g.1291delT D0076:g.1291delT SBDSbase deletion exon 1 SBDSbase_D0076:g.1303delG D0076:g.1303delG SBDSbase deletion exon 1 SBDSbase_D0076:g.1307delC D0076:g.1307delC SBDSbase deletion exon 1 SBDSbase_D0076:g.2263A>G D0076:g.2263A>G SBDSbase substitution exon 1 SBDSbase_D0076:g.3280A>C D0076:g.3280A>C SBDSbase substitution exon 1 SBDSbase_D0076:g.2344T>C D0076:g.2344T>C SBDSbase substitution exon 1 SBDSbase_D0076:g.2382T>C D0076:g.2382T>C SBDSbase substitution exon 1 SBDSbase_D0076:g.3186T>C D0076:g.3186T>C SBDSbase substitution exon 1 SBDSbase_D0076:g.3205_3210delTCAAGT D0076:g.3205_3210delTCAAGT SBDSbase deletion exon 1 SBDSbase_D0076:g.3218_3221delAAAG D0076:g.3218_3221delAAAG SBDSbase deletion exon 1 SBDSbase_D0076:g.3233_3234delCA D0076:g.3233_3234delCA SBDSbase deletion exon 1 SBDSbase_D0076:g.3288A>C D0076:g.3288A>C SBDSbase substitution exon 1 SBDSbase_D0076:g.5364C>T D0076:g.5364C>T SBDSbase substitution exon 1 SBDSbase_D0076:g.3354C>T D0076:g.3354C>T SBDSbase substitution exon 1 SBDSbase_D0076:g.3369A>G D0076:g.3369A>G SBDSbase substitution exon 1 SBDSbase_D0076:g.3354C>G D0076:g.3354C>G SBDSbase substitution exon 1 SBDSbase_D0076:g.3384A>G D0076:g.3384A>G SBDSbase substitution exon 1 SBDSbase_D0076:g.5346C>T D0076:g.5346C>T SBDSbase substitution exon 1 SBDSbase_D0076:g.5347G>T D0076:g.5347G>T SBDSbase substitution exon 1 SBDSbase_D0076:g.8130C>T D0076:g.8130C>T SBDSbase substitution exon 1 SBDSbase_D0076:g.5466G>C D0076:g.5466G>C SBDSbase substitution intron 1 SBDSbase_D0076:g.5300G>A D0076:g.5300G>A SBDSbase substitution intron 1 SBDSbase_D0076:g.3184G>A D0076:g.3184G>A SBDSbase substitution intron 1 SBDSbase_D0076:g.3061G>A D0076:g.3061G>A SBDSbase substitution intron 1 SBDSbase_D0076:g.2764_3635del D0076:g.2764_3635del SBDSbase deletion intron 1 SERPING1base_D0077:g.5656_5657delinsAA D0077:g.5656_5657delinsAA SERPING1base complex exon 1 SERPING1base_D0077:g.1769A>G D0077:g.1769A>G SERPING1base substitution exon 1 SERPING1base_D0077:g.1778_1779dupGGCCTCCA D0077:g.1778_1779dupGGCCTCCA SERPING1base duplication exon 1 SERPING1base_D0077:g.3391C>G D0077:g.3391C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.3393_3463del D0077:g.3393_3463del SERPING1base deletion exon 1 SERPING1base_D0077:g.3420C>T D0077:g.3420C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.3432_3433delAG D0077:g.3432_3433delAG SERPING1base deletion exon 1 SERPING1base_D0077:g.3446_3447delAG D0077:g.3446_3447delAG SERPING1base deletion exon 1 SERPING1base_D0077:g.3446delA D0077:g.3446delA SERPING1base deletion exon 1 SERPING1base_D0077:g.3486delC D0077:g.3486delC SERPING1base deletion exon 1 SERPING1base_D0077:g.3490delT D0077:g.3490delT SERPING1base deletion exon 1 SERPING1base_D0077:g.3513delT D0077:g.3513delT SERPING1base deletion exon 1 SERPING1base_D0077:g.3535C>G D0077:g.3535C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.3596delC D0077:g.3596delC SERPING1base deletion exon 1 SERPING1base_D0077:g.3617_3621delACCCA D0077:g.3617_3621delACCCA SERPING1base deletion exon 1 SERPING1base_D0077:g.3640_3643delCAAC D0077:g.3640_3643delCAAC SERPING1base deletion exon 1 SERPING1base_D0077:g.3649dupA D0077:g.3649dupA SERPING1base duplication exon 1 SERPING1base_D0077:g.3672C>T D0077:g.3672C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.3715G>A D0077:g.3715G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.3716_3717delCT D0077:g.3716_3717delCT SERPING1base deletion exon 1 SERPING1base_D0077:g.3756delG D0077:g.3756delG SERPING1base deletion exon 1 SERPING1base_D0077:g.3761_3802del D0077:g.3761_3802del SERPING1base deletion exon 1 SERPING1base_D0077:g.3788C>G D0077:g.3788C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.3832T>C D0077:g.3832T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.3834T>C D0077:g.3834T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.3838C>T D0077:g.3838C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.5533G>A D0077:g.5533G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.3876G>A D0077:g.3876G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.3876G>C D0077:g.3876G>C SERPING1base substitution exon 1 SERPING1base_D0077:g.5553delA D0077:g.5553delA SERPING1base deletion exon 1 SERPING1base_D0077:g.5553dupA D0077:g.5553dupA SERPING1base duplication exon 1 SERPING1base_D0077:g.5560T>C D0077:g.5560T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.5577T>A D0077:g.5577T>A SERPING1base substitution exon 1 SERPING1base_D0077:g.5582delC D0077:g.5582delC SERPING1base deletion exon 1 SERPING1base_D0077:g.5596G>A D0077:g.5596G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.5604delC D0077:g.5604delC SERPING1base deletion exon 1 SERPING1base_D0077:g.5610delC D0077:g.5610delC SERPING1base deletion exon 1 SERPING1base_D0077:g.5642dupA D0077:g.5642dupA SERPING1base duplication exon 1 SERPING1base_D0077:g.5649C>T D0077:g.5649C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.5653T>G D0077:g.5653T>G SERPING1base substitution exon 1 SERPING1base_D0077:g.9684_9685delinsAA D0077:g.9684_9685delinsAA SERPING1base complex exon 1 SERPING1base_D0077:g.9528T>C D0077:g.9528T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.9552_9553delinsT D0077:g.9552_9553delinsT SERPING1base complex exon 1 SERPING1base_D0077:g.9564C>G D0077:g.9564C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.9565delC D0077:g.9565delC SERPING1base deletion exon 1 SERPING1base_D0077:g.9572delC D0077:g.9572delC SERPING1base deletion exon 1 SERPING1base_D0077:g.1142C>G D0077:g.1142C>G SERPING1base substitution not within known transcription unit 1 SERPING1base_D0077:g.9637_9639delCAA D0077:g.9637_9639delCAA SERPING1base deletion exon 1 SERPING1base_D0077:g.9599G>T D0077:g.9599G>T SERPING1base substitution exon 1 SERPING1base_D0077:g.9616G>A D0077:g.9616G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.9630_9631dupAACAC D0077:g.9630_9631dupAACAC SERPING1base duplication exon 1 SERPING1base_D0077:g.9638_9640delAAG D0077:g.9638_9640delAAG SERPING1base deletion exon 1 SERPING1base_D0077:g.9639_9641delAGA D0077:g.9639_9641delAGA SERPING1base deletion exon 1 SERPING1base_D0077:g.9641A>G D0077:g.9641A>G SERPING1base substitution exon 1 SERPING1base_D0077:g.9675_9676delCC D0077:g.9675_9676delCC SERPING1base deletion exon 1 SERPING1base_D0077:g.9699T>C D0077:g.9699T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.9699_9702delTCTA D0077:g.9699_9702delTCTA SERPING1base deletion exon 1 SERPING1base_D0077:g.9705T>G D0077:g.9705T>G SERPING1base substitution exon 1 SERPING1base_D0077:g.9919_9921delACA D0077:g.9919_9921delACA SERPING1base deletion exon 1 SERPING1base_D0077:g.9923T>G D0077:g.9923T>G SERPING1base substitution exon 1 SERPING1base_D0077:g.9989T>C D0077:g.9989T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.9996_9997delCA D0077:g.9996_9997delCA SERPING1base deletion exon 1 SERPING1base_D0077:g.10005C>G D0077:g.10005C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.15213_15432del D0077:g.15213_15432del SERPING1base deletion exon 1 SERPING1base_D0077:g.15216G>A D0077:g.15216G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.15219C>T D0077:g.15219C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.15252delA D0077:g.15252delA SERPING1base deletion exon 1 SERPING1base_D0077:g.15264C>T D0077:g.15264C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.15289delA D0077:g.15289delA SERPING1base deletion exon 1 SERPING1base_D0077:g.15297C>T D0077:g.15297C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.15319T>C D0077:g.15319T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.15363A>C D0077:g.15363A>C SERPING1base substitution exon 1 SERPING1base_D0077:g.15379C>T D0077:g.15379C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.15379C>G D0077:g.15379C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.15386dupC D0077:g.15386dupC SERPING1base duplication exon 1 SERPING1base_D0077:g.15406A>T D0077:g.15406A>T SERPING1base substitution exon 1 SERPING1base_D0077:g.15409T>C D0077:g.15409T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.15410delG D0077:g.15410delG SERPING1base deletion exon 1 SERPING1base_D0077:g.15415C>A D0077:g.15415C>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17838delT D0077:g.17838delT SERPING1base deletion exon 1 SERPING1base_D0077:g.17842dupA D0077:g.17842dupA SERPING1base duplication exon 1 SERPING1base_D0077:g.17858_17859delTG D0077:g.17858_17859delTG SERPING1base deletion exon 1 SERPING1base_D0077:g.17880delC D0077:g.17880delC SERPING1base deletion exon 1 SERPING1base_D0077:g.17890delC D0077:g.17890delC SERPING1base deletion exon 1 SERPING1base_D0077:g.17889delT D0077:g.17889delT SERPING1base deletion exon 1 SERPING1base_D0077:g.17902A>G D0077:g.17902A>G SERPING1base substitution exon 1 SERPING1base_D0077:g.17917_17919delinsT D0077:g.17917_17919delinsT SERPING1base complex exon 1 SERPING1base_D0077:g.17925_17926delGA D0077:g.17925_17926delGA SERPING1base deletion exon 1 SERPING1base_D0077:g.17924dupA D0077:g.17924dupA SERPING1base duplication exon 1 SERPING1base_D0077:g.17931_17932insTGT D0077:g.17931_17932insTGT SERPING1base insertion exon 1 SERPING1base_D0077:g.17935T>A D0077:g.17935T>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17934_17967del D0077:g.17934_17967del SERPING1base deletion exon 1 SERPING1base_D0077:g.17941C>A D0077:g.17941C>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17946G>A D0077:g.17946G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17952T>C D0077:g.17952T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.17956_17957dup D0077:g.17956_17957dup SERPING1base duplication exon 1 SERPING1base_D0077:g.17959T>G D0077:g.17959T>G SERPING1base substitution exon 1 SERPING1base_D0077:g.17957dupC D0077:g.17957dupC SERPING1base duplication exon 1 SERPING1base_D0077:g.17970C>T D0077:g.17970C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.17971G>A D0077:g.17971G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17971G>T D0077:g.17971G>T SERPING1base substitution exon 1 SERPING1base_D0077:g.17971G>C D0077:g.17971G>C SERPING1base substitution exon 1 SERPING1base_D0077:g.17970C>A D0077:g.17970C>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17973A>C D0077:g.17973A>C SERPING1base substitution exon 1 SERPING1base_D0077:g.17972_17973dup D0077:g.17972_17973dup SERPING1base duplication exon 1 SERPING1base_D0077:g.17992T>A D0077:g.17992T>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17992T>G D0077:g.17992T>G SERPING1base substitution exon 1 SERPING1base_D0077:g.17991G>A D0077:g.17991G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.17994C>G D0077:g.17994C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.18016T>G D0077:g.18016T>G SERPING1base substitution exon 1 SERPING1base_D0077:g.18004T>C D0077:g.18004T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.18009T>C D0077:g.18009T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.18016T>C D0077:g.18016T>C SERPING1base substitution exon 1 SERPING1base_D0077:g.18020G>A D0077:g.18020G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.18019G>A D0077:g.18019G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.18024C>T D0077:g.18024C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.18040C>G D0077:g.18040C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.18043T>A D0077:g.18043T>A SERPING1base substitution exon 1 SERPING1base_D0077:g.18049T>A D0077:g.18049T>A SERPING1base substitution exon 1 SERPING1base_D0077:g.18052G>A D0077:g.18052G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.18051G>A D0077:g.18051G>A SERPING1base substitution exon 1 SERPING1base_D0077:g.18054C>T D0077:g.18054C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.18067C>G D0077:g.18067C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.18066C>T D0077:g.18066C>T SERPING1base substitution exon 1 SERPING1base_D0077:g.18075T>A D0077:g.18075T>A SERPING1base substitution exon 1 SERPING1base_D0077:g.1746G>A D0077:g.1746G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.1824G>A D0077:g.1824G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.3376delA D0077:g.3376delA SERPING1base deletion intron 1 SERPING1base_D0077:g.1820G>A D0077:g.1820G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.1822A>G D0077:g.1822A>G SERPING1base substitution intron 1 SERPING1base_D0077:g.3877G>A D0077:g.3877G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.3878dupT D0077:g.3878dupT SERPING1base duplication intron 1 SERPING1base_D0077:g.3878T>C D0077:g.3878T>C SERPING1base substitution intron 1 SERPING1base_D0077:g.3881G>C D0077:g.3881G>C SERPING1base substitution intron 1 SERPING1base_D0077:g.3881G>A D0077:g.3881G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.5531delA D0077:g.5531delA SERPING1base deletion intron 1 SERPING1base_D0077:g.9504C>G D0077:g.9504C>G SERPING1base substitution intron 1 SERPING1base_D0077:g.9903A>G D0077:g.9903A>G SERPING1base substitution intron 1 SERPING1base_D0077:g.9712T>C D0077:g.9712T>C SERPING1base substitution intron 1 SERPING1base_D0077:g.9904G>A D0077:g.9904G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.10045G>T D0077:g.10045G>T SERPING1base substitution intron 1 SERPING1base_D0077:g.15201_15228del D0077:g.15201_15228del SERPING1base deletion intron 1 SERPING1base_D0077:g.15211_15214delinsGCA D0077:g.15211_15214delinsGCA SERPING1base complex intron 1 SERPING1base_D0077:g.15212G>C D0077:g.15212G>C SERPING1base substitution intron 1 SERPING1base_D0077:g.9703C>G D0077:g.9703C>G SERPING1base substitution exon 1 SERPING1base_D0077:g.1080C>T D0077:g.1080C>T SERPING1base substitution not within known transcription unit 1 SERPING1base_D0077:g.15212G>A D0077:g.15212G>A SERPING1base substitution intron 1 SERPING1base_D0077:g.15434T>A D0077:g.15434T>A SERPING1base substitution intron 1 SERPING1base_D0077:g.15434delT D0077:g.15434delT SERPING1base deletion intron 1 SERPING1base_D0077:g.4348_6970del D0077:g.4348_6970del SERPING1base deletion not within known transcription unit 1 SERPING1base_D0077:g.4271_7470del D0077:g.4271_7470del SERPING1base deletion not within known transcription unit 1 SERPING1base_D0077:g.4375_7263del D0077:g.4375_7263del SERPING1base deletion not within known transcription unit 1 SH2D1Abase_D0078:g.39340A>G D0078:g.39340A>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39342C>G D0078:g.39342C>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39343A>C D0078:g.39343A>C SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39367G>A D0078:g.39367G>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39399G>A D0078:g.39399G>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39404C>G D0078:g.39404C>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39412T>C D0078:g.39412T>C SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39415G>C D0078:g.39415G>C SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39417G>T D0078:g.39417G>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39420A>G D0078:g.39420A>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39422C>A D0078:g.39422C>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.39446C>G D0078:g.39446C>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58439_58502del D0078:g.58439_58502del SH2D1Abase deletion exon 1 SH2D1Abase_D0078:g.58441_58487del D0078:g.58441_58487del SH2D1Abase deletion exon 1 SH2D1Abase_D0078:g.58447G>T D0078:g.58447G>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58447dupG D0078:g.58447dupG SH2D1Abase duplication exon 1 SH2D1Abase_D0078:g.58459C>G D0078:g.58459C>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58462A>G D0078:g.58462A>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58465G>T D0078:g.58465G>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58464C>T D0078:g.58464C>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58473C>T D0078:g.58473C>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58492G>A D0078:g.58492G>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58502G>T D0078:g.58502G>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58502G>A D0078:g.58502G>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62855C>T D0078:g.62855C>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62880T>A D0078:g.62880T>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62891_62894delTAAA D0078:g.62891_62894delTAAA SH2D1Abase deletion exon 1 SH2D1Abase_D0078:g.62897dupA D0078:g.62897dupA SH2D1Abase duplication exon 1 SH2D1Abase_D0078:g.62901_62908delCATTTCAG D0078:g.62901_62908delCATTTCAG SH2D1Abase deletion exon 1 SH2D1Abase_D0078:g.62903T>C D0078:g.62903T>C SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62912T>C D0078:g.62912T>C SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62913delT D0078:g.62913delT SH2D1Abase deletion exon 1 SH2D1Abase_D0078:g.62937delA D0078:g.62937delA SH2D1Abase deletion exon 1 SH2D1Abase_D0078:g.62948A>C D0078:g.62948A>C SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62952T>A D0078:g.62952T>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62954C>T D0078:g.62954C>T SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.62957T>G D0078:g.62957T>G SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.64067T>A D0078:g.64067T>A SH2D1Abase substitution exon 1 SH2D1Abase_D0078:g.58436C>G D0078:g.58436C>G SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.39458G>A D0078:g.39458G>A SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.58437A>C D0078:g.58437A>C SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.58437A>G D0078:g.58437A>G SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.62853G>C D0078:g.62853G>C SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.58503G>A D0078:g.58503G>A SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.58505A>G D0078:g.58505A>G SH2D1Abase substitution intron 1 SH2D1Abase_D0078:g.62853delG D0078:g.62853delG SH2D1Abase deletion intron 1 SH2D1Abase_D0078:g.63997_64001delATTTT D0078:g.63997_64001delATTTT SH2D1Abase deletion intron 1 SH2D1Abase_D0078:g.39012C>T D0078:g.39012C>T SH2D1Abase substitution not within known transcription unit 1 SLC35C1base_D0036:g.1434C>T D0036:g.1434C>T SLC35C1base substitution exon 1 SLC35C1base_D0036:g.6022delG D0036:g.6022delG SLC35C1base deletion exon 1 SLC35C1base_D0036:g.6357C>G D0036:g.6357C>G SLC35C1base substitution exon 1 SLC35C1base_D0036:g.6403G>A D0036:g.6403G>A SLC35C1base substitution exon 1 SLC35C1base_D0036:g.6444A>G D0036:g.6444A>G SLC35C1base substitution exon 1 SMARCAL1base_D0079:g.1003G>A D0079:g.1003G>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.24753G>A D0079:g.24753G>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.1049C>T D0079:g.1049C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.1100C>T D0079:g.1100C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.1338_1339insAGTCCAC D0079:g.1338_1339insAGTCCAC SMARCAL1base insertion exon 1 SMARCAL1base_D0079:g.2577T>C D0079:g.2577T>C SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.64512G>T D0079:g.64512G>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.9968A>C D0079:g.9968A>C SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.6687C>T D0079:g.6687C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.6732C>T D0079:g.6732C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.9961G>C D0079:g.9961G>C SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.19106G>A D0079:g.19106G>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.9964G>T D0079:g.9964G>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.14992dupC D0079:g.14992dupC SMARCAL1base duplication exon 1 SMARCAL1base_D0079:g.50926T>G D0079:g.50926T>G SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.19081G>C D0079:g.19081G>C SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.50936C>T D0079:g.50936C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.19118C>T D0079:g.19118C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.21791T>A D0079:g.21791T>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.37223C>T D0079:g.37223C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.24752C>T D0079:g.24752C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.61641C>A D0079:g.61641C>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.33339C>T D0079:g.33339C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.33359C>T D0079:g.33359C>T SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.63436G>A D0079:g.63436G>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.37164C>G D0079:g.37164C>G SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.37224G>A D0079:g.37224G>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.37229A>C D0079:g.37229A>C SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.37230A>C D0079:g.37230A>C SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.61584T>G D0079:g.61584T>G SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.61583_61602del D0079:g.61583_61602del SMARCAL1base deletion exon 1 SMARCAL1base_D0079:g.61611G>A D0079:g.61611G>A SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.63439T>G D0079:g.63439T>G SMARCAL1base substitution exon 1 SMARCAL1base_D0079:g.9927A>G D0079:g.9927A>G SMARCAL1base substitution intron 1 SMARCAL1base_D0079:g.15079_15080delGT D0079:g.15079_15080delGT SMARCAL1base deletion intron 1 SMARCAL1base_D0079:g.6833G>A D0079:g.6833G>A SMARCAL1base substitution intron 1 SMARCAL1base_D0079:g.9978_9981delAAGT D0079:g.9978_9981delAAGT SMARCAL1base deletion not within known transcription unit 1 SP110base_D0116:g.4051delC D0116:g.4051delC SP110base deletion exon 1 SP110base_D0116:g.8567delC D0116:g.8567delC SP110base deletion exon 1 SPINK5base_D0080:g.7333C>T D0080:g.7333C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.9132dupG D0080:g.9132dupG SPINK5base duplication exon 1 SPINK5base_D0080:g.7350delT D0080:g.7350delT SPINK5base deletion exon 1 SPINK5base_D0080:g.2330T>A D0080:g.2330T>A SPINK5base substitution intron 1 SPINK5base_D0080:g.28167C>T D0080:g.28167C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.23385G>T D0080:g.23385G>T SPINK5base substitution exon 1 SPINK5base_D0080:g.53418_53427del D0080:g.53418_53427del SPINK5base deletion not within known transcription unit 1 SPINK5base_D0080:g.23432_23435delTTGT D0080:g.23432_23435delTTGT SPINK5base deletion exon 1 SPINK5base_D0080:g.41896G>A D0080:g.41896G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.23453_23454delAT D0080:g.23453_23454delAT SPINK5base deletion exon 1 SPINK5base_D0080:g.34905_34906insC D0080:g.34905_34906insC SPINK5base insertion exon 1 SPINK5base_D0080:g.23455_23456delAT D0080:g.23455_23456delAT SPINK5base deletion exon 1 SPINK5base_D0080:g.57019C>T D0080:g.57019C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.45722G>T D0080:g.45722G>T SPINK5base substitution exon 1 SPINK5base_D0080:g.31358dupT D0080:g.31358dupT SPINK5base duplication exon 1 SPINK5base_D0080:g.57282_57283delGA D0080:g.57282_57283delGA SPINK5base deletion exon 1 SPINK5base_D0080:g.23469_23470insCGTG D0080:g.23469_23470insCGTG SPINK5base insertion exon 1 SPINK5base_D0080:g.23470_23471dupGTGC D0080:g.23470_23471dupGTGC SPINK5base duplication exon 1 SPINK5base_D0080:g.23477_23478delTG D0080:g.23477_23478delTG SPINK5base deletion exon 1 SPINK5base_D0080:g.26556_26557delGT D0080:g.26556_26557delGT SPINK5base deletion exon 1 SPINK5base_D0080:g.28146C>T D0080:g.28146C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.31334delC D0080:g.31334delC SPINK5base deletion exon 1 SPINK5base_D0080:g.28170C>T D0080:g.28170C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.55521G>A D0080:g.55521G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.31363_31364insT D0080:g.31363_31364insT SPINK5base insertion exon 1 SPINK5base_D0080:g.36215_36216dupGAAAA D0080:g.36215_36216dupGAAAA SPINK5base duplication exon 1 SPINK5base_D0080:g.37428C>T D0080:g.37428C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.36227C>T D0080:g.36227C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.36265_36266delAT D0080:g.36265_36266delAT SPINK5base deletion exon 1 SPINK5base_D0080:g.53351_53352delAG D0080:g.53351_53352delAG SPINK5base deletion exon 1 SPINK5base_D0080:g.38785dupT D0080:g.38785dupT SPINK5base duplication exon 1 SPINK5base_D0080:g.53408G>T D0080:g.53408G>T SPINK5base substitution exon 1 SPINK5base_D0080:g.23489G>A D0080:g.23489G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.55417C>T D0080:g.55417C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.55961A>T D0080:g.55961A>T SPINK5base substitution exon 1 SPINK5base_D0080:g.55964dupA D0080:g.55964dupA SPINK5base duplication exon 1 SPINK5base_D0080:g.37538G>C D0080:g.37538G>C SPINK5base substitution intron 1 SPINK5base_D0080:g.57074C>T D0080:g.57074C>T SPINK5base substitution exon 1 SPINK5base_D0080:g.57277delA D0080:g.57277delA SPINK5base deletion exon 1 SPINK5base_D0080:g.37467_37468delGA D0080:g.37467_37468delGA SPINK5base deletion exon 1 SPINK5base_D0080:g.2328G>A D0080:g.2328G>A SPINK5base substitution exon 1 SPINK5base_D0080:g.55959dupG D0080:g.55959dupG SPINK5base duplication exon 1 SPINK5base_D0080:g.26448A>G D0080:g.26448A>G SPINK5base substitution intron 1 SPINK5base_D0080:g.55965dupA D0080:g.55965dupA SPINK5base duplication exon 1 SPINK5base_D0080:g.45708G>A D0080:g.45708G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.23359A>T D0080:g.23359A>T SPINK5base substitution intron 1 SPINK5base_D0080:g.57277dupA D0080:g.57277dupA SPINK5base duplication exon 1 SPINK5base_D0080:g.51317G>A D0080:g.51317G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.60829delA D0080:g.60829delA SPINK5base deletion exon 1 SPINK5base_D0080:g.2333G>A D0080:g.2333G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.38866T>G D0080:g.38866T>G SPINK5base substitution intron 1 SPINK5base_D0080:g.53423G>A D0080:g.53423G>A SPINK5base substitution intron 1 SPINK5base_D0080:g.56014G>A D0080:g.56014G>A SPINK5base substitution exon 1 SPINK5base_D0080:g.57095_57098delGAGT D0080:g.57095_57098delGAGT SPINK5base deletion intron 1 STAT1base_D0081:g.23382G>C D0081:g.23382G>C STAT1base substitution exon 1 STAT1base_D0081:g.30990G>T D0081:g.30990G>T STAT1base substitution exon 1 STAT1base_D0081:g.35720_35721delAG D0081:g.35720_35721delAG STAT1base deletion exon 1 STAT1base_D0081:g.35759T>C D0081:g.35759T>C STAT1base substitution exon 1 STAT1base_D0081:g.38828C>T D0081:g.38828C>T STAT1base substitution exon 1 STAT1base_D0081:g.38859T>C D0081:g.38859T>C STAT1base substitution exon 1 STAT3base_D0128:g.53280C>T D0128:g.53280C>T STAT3base substitution exon 1 STAT3base_D0128:g.53311G>A D0128:g.53311G>A STAT3base substitution exon 1 STAT3base_D0128:g.57365C>G D0128:g.57365C>G STAT3base substitution exon 1 STAT3base_D0128:g.57366G>T D0128:g.57366G>T STAT3base substitution exon 1 STAT3base_D0128:g.57366G>A D0128:g.57366G>A STAT3base substitution exon 1 STAT3base_D0128:g.57365C>T D0128:g.57365C>T STAT3base substitution exon 1 STAT3base_D0128:g.57371T>C D0128:g.57371T>C STAT3base substitution exon 1 STAT3base_D0128:g.57372T>C D0128:g.57372T>C STAT3base substitution exon 1 STAT3base_D0128:g.57387C>T D0128:g.57387C>T STAT3base substitution exon 1 STAT3base_D0128:g.57551A>T D0128:g.57551A>T STAT3base substitution exon 1 STAT3base_D0128:g.57585G>A D0128:g.57585G>A STAT3base substitution exon 1 STAT3base_D0128:g.60821G>A D0128:g.60821G>A STAT3base substitution exon 1 STAT3base_D0128:g.60837A>C D0128:g.60837A>C STAT3base substitution exon 1 STAT3base_D0128:g.60836C>T D0128:g.60836C>T STAT3base substitution exon 1 STAT3base_D0128:g.61968_61970delGTG D0128:g.61968_61970delGTG STAT3base deletion exon 1 STAT3base_D0128:g.61974T>G D0128:g.61974T>G STAT3base substitution exon 1 STAT3base_D0128:g.62288A>G D0128:g.62288A>G STAT3base substitution exon 1 STAT3base_D0128:g.63948G>A D0128:g.63948G>A STAT3base substitution exon 1 STAT3base_D0128:g.63979C>G D0128:g.63979C>G STAT3base substitution exon 1 STAT3base_D0128:g.63977T>G D0128:g.63977T>G STAT3base substitution exon 1 STAT3base_D0128:g.63981C>T D0128:g.63981C>T STAT3base substitution exon 1 STAT3base_D0128:g.64534G>T D0128:g.64534G>T STAT3base substitution exon 1 STAT3base_D0128:g.64534G>A D0128:g.64534G>A STAT3base substitution exon 1 STAT3base_D0128:g.64538A>G D0128:g.64538A>G STAT3base substitution exon 1 STAT3base_D0128:g.64540C>G D0128:g.64540C>G STAT3base substitution exon 1 STAT3base_D0128:g.64556A>C D0128:g.64556A>C STAT3base substitution exon 1 STAT3base_D0128:g.64555_64557delCAG D0128:g.64555_64557delCAG STAT3base deletion exon 1 STAT3base_D0128:g.64564A>G D0128:g.64564A>G STAT3base substitution exon 1 STAT3base_D0128:g.64579G>A D0128:g.64579G>A STAT3base substitution exon 1 STAT3base_D0128:g.64595A>G D0128:g.64595A>G STAT3base substitution exon 1 STAT3base_D0128:g.64694_64723del D0128:g.64694_64723del STAT3base deletion exon 1 STAT5Bbase_D0082:g.53986C>T D0082:g.53986C>T STAT5Bbase substitution exon 1 STAT5Bbase_D0082:g.59246dupC D0082:g.59246dupC STAT5Bbase duplication exon 1 STAT5Bbase_D0082:g.60021dupG D0082:g.60021dupG STAT5Bbase duplication exon 1 STAT5Bbase_D0082:g.67275G>C D0082:g.67275G>C STAT5Bbase substitution exon 1 STX11base_D0083:g.37206delC D0083:g.37206delC STX11base deletion exon 1 STX11base_D0083:g.37465_37472delinsTGG D0083:g.37465_37472delinsTGG STX11base complex exon 1 STX11base_D0083:g.37677_37680delTGGC D0083:g.37677_37680delTGGC STX11base deletion exon 1 STX11base_D0083:g.37898C>T D0083:g.37898C>T STX11base substitution exon 1 TAP1base_D0084:g.26198delC D0084:g.26198delC TAP1base deletion exon 1 TAP1base_D0084:g.28224C>T D0084:g.28224C>T TAP1base substitution exon 1 TAP1base_D0084:g.30006C>T D0084:g.30006C>T TAP1base substitution exon 1 TAP1base_D0084:g.26157G>A D0084:g.26157G>A TAP1base substitution intron 1 TAP2base_D0085:g.42907C>T D0085:g.42907C>T TAP2base substitution exon 1 TAP2base_D0085:g.42937C>T D0085:g.42937C>T TAP2base substitution exon 1 TAP2base_D0085:g.45870delA D0085:g.45870delA TAP2base deletion exon 1 TAZbase_D0087:g.1312_1313insG D0087:g.1312_1313insG TAZbase insertion exon 1 TAZbase_D0087:g.1560delC D0087:g.1560delC TAZbase deletion exon 1 TAZbase_D0087:g.1564A>C D0087:g.1564A>C TAZbase substitution exon 1 TAZbase_D0087:g.1577_1589del D0087:g.1577_1589del TAZbase deletion exon 1 TAZbase_D0087:g.1590C>G D0087:g.1590C>G TAZbase substitution exon 1 TAZbase_D0087:g.1594dupC D0087:g.1594dupC TAZbase duplication exon 1 TAZbase_D0087:g.1607G>T D0087:g.1607G>T TAZbase substitution exon 1 TAZbase_D0087:g.1608delA D0087:g.1608delA TAZbase deletion exon 1 TAZbase_D0087:g.1644C>G D0087:g.1644C>G TAZbase substitution exon 1 TAZbase_D0087:g.2668G>A D0087:g.2668G>A TAZbase substitution exon 1 TAZbase_D0087:g.2709C>T D0087:g.2709C>T TAZbase substitution exon 1 TAZbase_D0087:g.2709C>A D0087:g.2709C>A TAZbase substitution exon 1 TAZbase_D0087:g.3010T>C D0087:g.3010T>C TAZbase substitution exon 1 TAZbase_D0087:g.3025C>T D0087:g.3025C>T TAZbase substitution exon 1 TAZbase_D0087:g.9077T>A D0087:g.9077T>A TAZbase substitution exon 1 TAZbase_D0087:g.9080delC D0087:g.9080delC TAZbase deletion exon 1 TAZbase_D0087:g.9174T>G D0087:g.9174T>G TAZbase substitution exon 1 TAZbase_D0087:g.9188G>T D0087:g.9188G>T TAZbase substitution exon 1 TAZbase_D0087:g.9206dupT D0087:g.9206dupT TAZbase duplication exon 1 TAZbase_D0087:g.9501G>A D0087:g.9501G>A TAZbase substitution exon 1 TAZbase_D0087:g.9500G>A D0087:g.9500G>A TAZbase substitution exon 1 TAZbase_D0087:g.9501G>T D0087:g.9501G>T TAZbase substitution exon 1 TAZbase_D0087:g.9516_9519delAGTG D0087:g.9516_9519delAGTG TAZbase deletion exon 1 TAZbase_D0087:g.9537T>A D0087:g.9537T>A TAZbase substitution exon 1 TAZbase_D0087:g.9540T>G D0087:g.9540T>G TAZbase substitution exon 1 TAZbase_D0087:g.9542delC D0087:g.9542delC TAZbase deletion exon 1 TAZbase_D0087:g.9546T>C D0087:g.9546T>C TAZbase substitution exon 1 TAZbase_D0087:g.9557G>A D0087:g.9557G>A TAZbase substitution exon 1 TAZbase_D0087:g.9712delC D0087:g.9712delC TAZbase deletion exon 1 TAZbase_D0087:g.9725C>T D0087:g.9725C>T TAZbase substitution exon 1 TAZbase_D0087:g.10121A>C D0087:g.10121A>C TAZbase substitution exon 1 TAZbase_D0087:g.10124dupA D0087:g.10124dupA TAZbase duplication exon 1 TAZbase_D0087:g.10139G>A D0087:g.10139G>A TAZbase substitution exon 1 TAZbase_D0087:g.10460_10461dupCCTGG D0087:g.10460_10461dupCCTGG TAZbase duplication exon 1 TAZbase_D0087:g.1418G>A D0087:g.1418G>A TAZbase substitution intron 1 TAZbase_D0087:g.1418G>C D0087:g.1418G>C TAZbase substitution intron 1 TAZbase_D0087:g.1545A>G D0087:g.1545A>G TAZbase substitution intron 1 TAZbase_D0087:g.1414G>C D0087:g.1414G>C TAZbase substitution intron 1 TAZbase_D0087:g.2667G>C D0087:g.2667G>C TAZbase substitution intron 1 TAZbase_D0087:g.2667G>A D0087:g.2667G>A TAZbase substitution intron 1 TAZbase_D0087:g.1677T>G D0087:g.1677T>G TAZbase substitution intron 1 TAZbase_D0087:g.2823G>A D0087:g.2823G>A TAZbase substitution intron 1 TAZbase_D0087:g.9087G>A D0087:g.9087G>A TAZbase substitution intron 1 TAZbase_D0087:g.9674G>C D0087:g.9674G>C TAZbase substitution intron 1 TAZbase_D0087:g.10200T>A D0087:g.10200T>A TAZbase substitution intron 1 TCIRG1base_AF033033.2:g.2418A>T AF033033.2:g.2418A>T TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.2415G>A AF033033.2:g.2415G>A TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.4525T>C AF033033.2:g.4525T>C TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.4391C>A AF033033.2:g.4391C>A TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.4637G>A AF033033.2:g.4637G>A TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.4654C>T AF033033.2:g.4654C>T TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.4680G>T AF033033.2:g.4680G>T TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.11647_11650delGGAG AF033033.2:g.11647_11650delGGAG TCIRG1base deletion exon 1 TCIRG1base_AF033033.2:g.10106G>A AF033033.2:g.10106G>A TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.6078C>T AF033033.2:g.6078C>T TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.8759C>A AF033033.2:g.8759C>A TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.5272delC AF033033.2:g.5272delC TCIRG1base deletion exon 1 TCIRG1base_AF033033.2:g.5320_5321insG AF033033.2:g.5320_5321insG TCIRG1base insertion exon 1 TCIRG1base_AF033033.2:g.5988G>T AF033033.2:g.5988G>T TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.8463_8464insA AF033033.2:g.8463_8464insA TCIRG1base insertion exon 1 TCIRG1base_AF033033.2:g.8590C>T AF033033.2:g.8590C>T TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.8749_8751delACA AF033033.2:g.8749_8751delACA TCIRG1base deletion exon 1 TCIRG1base_AF033033.2:g.8805_8806delGC AF033033.2:g.8805_8806delGC TCIRG1base deletion exon 1 TCIRG1base_AF033033.2:g.9000T>A AF033033.2:g.9000T>A TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.10978T>C AF033033.2:g.10978T>C TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC AF033033.2:g.11602_11610delCTTTGCCGC TCIRG1base deletion exon 1 TCIRG1base_AF033033.2:g.10220G>A AF033033.2:g.10220G>A TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.10809C>T AF033033.2:g.10809C>T TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.10028G>A AF033033.2:g.10028G>A TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.11086_11160del AF033033.2:g.11086_11160del TCIRG1base deletion exon 1 TCIRG1base_AF033033.2:g.11279G>A AF033033.2:g.11279G>A TCIRG1base substitution intron 1 TCIRG1base_AF033033.2:g.11598C>G AF033033.2:g.11598C>G TCIRG1base substitution exon 1 TCIRG1base_AF033033.2:g.11765G>A AF033033.2:g.11765G>A TCIRG1base substitution exon 1 TCN2base_D0088:g.60260delC D0088:g.60260delC TCN2base deletion exon 1 TCN2base_D0088:g.62284delA D0088:g.62284delA TCN2base deletion exon 1 TCN2base_D0088:g.72253T>G D0088:g.72253T>G TCN2base substitution exon 1 TCN2base_D0088:g.63700_63701delTC D0088:g.63700_63701delTC TCN2base deletion exon 1 TCN2base_D0088:g.72282dupA D0088:g.72282dupA TCN2base duplication exon 1 TCN2base_D0088:g.63704_63706delCCA D0088:g.63704_63706delCCA TCN2base deletion exon 1 TCN2base_D0088:g.72258_72259delCA D0088:g.72258_72259delCA TCN2base deletion exon 1 TCN2base_D0088:g.65056_65059delTCTG D0088:g.65056_65059delTCTG TCN2base deletion exon 1 TCN2base_D0088:g.72338C>T D0088:g.72338C>T TCN2base substitution exon 1 TCN2base_D0088:g.75755_75756delCA D0088:g.75755_75756delCA TCN2base deletion exon 1 TCN2base_D0088:g.62326T>G D0088:g.62326T>G TCN2base substitution intron 1 TCN2base_D0088:g.63784G>C D0088:g.63784G>C TCN2base substitution intron 1 TLR3base_D0124:g.14440T>C D0124:g.14440T>C TLR3base substitution exon 1 TLR3base_D0124:g.15192C>T D0124:g.15192C>T TLR3base substitution exon 1 TMC6base_D0030:g.7080C>T D0030:g.7080C>T TMC6base substitution exon 1 TMC6base_D0030:g.7532C>T D0030:g.7532C>T TMC6base substitution exon 1 TMC6base_D0030:g.8737C>A D0030:g.8737C>A TMC6base substitution exon 1 TMC6base_D0030:g.9227A>T D0030:g.9227A>T TMC6base substitution intron 1 TMC6base_D0030:g.9253_9254dupCATGT D0030:g.9253_9254dupCATGT TMC6base duplication exon 1 TMC6base_D0030:g.9305delT D0030:g.9305delT TMC6base deletion exon 1 TMC6base_D0030:g.14026G>T D0030:g.14026G>T TMC6base substitution exon 1 TMC8base_D0031:g.2133G>A D0031:g.2133G>A TMC8base substitution exon 1 TMC8base_D0031:g.3648_3669del D0031:g.3648_3669del TMC8base deletion exon 1 TMC8base_D0031:g.3648_3670del D0031:g.3648_3670del TMC8base deletion exon 1 TMC8base_D0031:g.3655C>T D0031:g.3655C>T TMC8base substitution exon 1 TMC8base_D0031:g.4152delT D0031:g.4152delT TMC8base deletion exon 1 TMC8base_D0031:g.5179G>T D0031:g.5179G>T TMC8base substitution exon 1 TNFRSF13Bbase_D0105:g.20568C>A D0105:g.20568C>A TNFRSF13Bbase substitution exon 1 TNFRSF13Bbase_D0105:g.24109_24110insA D0105:g.24109_24110insA TNFRSF13Bbase insertion exon 1 TNFRSF13Bbase_D0105:g.24216T>C D0105:g.24216T>C TNFRSF13Bbase substitution exon 1 TNFRSF13Bbase_D0105:g.24110dupA D0105:g.24110dupA TNFRSF13Bbase duplication exon 1 TNFRSF13Bbase_D0105:g.32674C>A D0105:g.32674C>A TNFRSF13Bbase substitution exon 1 TNFRSF13Bbase_D0105:g.24337C>A D0105:g.24337C>A TNFRSF13Bbase substitution exon 1 TNFRSF13Bbase_D0105:g.32647G>A D0105:g.32647G>A TNFRSF13Bbase substitution exon 1 TNFRSF13Bbase_D0105:g.32713_32714delinsAA D0105:g.32713_32714delinsAA TNFRSF13Bbase complex exon 1 TNFRSF13Bbase_D0105:g.32737G>A D0105:g.32737G>A TNFRSF13Bbase substitution exon 1 TNFRSF13Bbase_D0105:g.1075G>T D0105:g.1075G>T TNFRSF13Bbase substitution intron 1 TYK2base_D0118:g.11027_11030delGCTT D0118:g.11027_11030delGCTT TYK2base deletion exon 1 UNC13Dbase_D0091:g.2473G>A D0091:g.2473G>A UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.5211G>T D0091:g.5211G>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.3157delA D0091:g.3157delA UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.8805G>T D0091:g.8805G>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.2475_2476delAC D0091:g.2475_2476delAC UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.11622_11625delGGAG D0091:g.11622_11625delGGAG UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.2512delC D0091:g.2512delC UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.2545C>T D0091:g.2545C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.2675C>T D0091:g.2675C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.3248delC D0091:g.3248delC UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.4900delT D0091:g.4900delT UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.4913C>T D0091:g.4913C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.9864G>C D0091:g.9864G>C UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.14565T>G D0091:g.14565T>G UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.10308A>G D0091:g.10308A>G UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.5212G>T D0091:g.5212G>T UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.5104C>T D0091:g.5104C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.5401C>T D0091:g.5401C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.5452C>T D0091:g.5452C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.15103T>C D0091:g.15103T>C UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.8889G>A D0091:g.8889G>A UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.9056T>C D0091:g.9056T>C UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.9089G>T D0091:g.9089G>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.15308C>T D0091:g.15308C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.9846C>T D0091:g.9846C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.5214G>A D0091:g.5214G>A UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.10037delG D0091:g.10037delG UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.15695G>A D0091:g.15695G>A UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.10066dupA D0091:g.10066dupA UNC13Dbase duplication exon 1 UNC13Dbase_D0091:g.10214dupT D0091:g.10214dupT UNC13Dbase duplication exon 1 UNC13Dbase_D0091:g.10283_10294del D0091:g.10283_10294del UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.11048G>C D0091:g.11048G>C UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.11258G>A D0091:g.11258G>A UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.5388G>C D0091:g.5388G>C UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.11622delG D0091:g.11622delG UNC13Dbase deletion exon 1 UNC13Dbase_D0091:g.15309G>C D0091:g.15309G>C UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.3290G>A D0091:g.3290G>A UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.16911T>G D0091:g.16911T>G UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.17673C>T D0091:g.17673C>T UNC13Dbase substitution exon 1 UNC13Dbase_D0091:g.2794G>A D0091:g.2794G>A UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.11000A>G D0091:g.11000A>G UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.11644G>A D0091:g.11644G>A UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.9380G>A D0091:g.9380G>A UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.9811G>T D0091:g.9811G>T UNC13Dbase substitution intron 1 UNC13Dbase_D0091:g.15056G>A D0091:g.15056G>A UNC13Dbase substitution intron 1 UNC93B1base_D0122:g.6765G>A D0122:g.6765G>A UNC93B1base substitution exon 1 UNC93B1base_D0122:g.8466_8469delCTTT D0122:g.8466_8469delCTTT UNC93B1base deletion exon 1 UNGbase_D0092:g.1952C>T D0092:g.1952C>T UNGbase substitution exon 1 UNGbase_D0092:g.2632delC D0092:g.2632delC UNGbase deletion exon 1 UNGbase_D0092:g.6265_6266delTA D0092:g.6265_6266delTA UNGbase deletion exon 1 UNGbase_D0092:g.2667_2668delAT D0092:g.2667_2668delAT UNGbase deletion exon 1 UNGbase_D0092:g.6953T>C D0092:g.6953T>C UNGbase substitution exon 1 WASbase_AF196970.2:g.31662delG AF196970.2:g.31662delG WASbase deletion exon 1 WASbase_AF196970.2:g.31688C>T AF196970.2:g.31688C>T WASbase substitution exon 1 WASbase_AF196970.2:g.31730C>T AF196970.2:g.31730C>T WASbase substitution exon 1 WASbase_AF196970.2:g.31758_31759delTT AF196970.2:g.31758_31759delTT WASbase deletion exon 1 WASbase_AF196970.2:g.32121C>G AF196970.2:g.32121C>G WASbase substitution exon 1 WASbase_AF196970.2:g.32147G>A AF196970.2:g.32147G>A WASbase substitution exon 1 WASbase_AF196970.2:g.32147G>T AF196970.2:g.32147G>T WASbase substitution exon 1 WASbase_AF196970.2:g.32175A>C AF196970.2:g.32175A>C WASbase substitution exon 1 WASbase_AF196970.2:g.32177G>C AF196970.2:g.32177G>C WASbase substitution exon 1 WASbase_AF196970.2:g.32204C>T AF196970.2:g.32204C>T WASbase substitution exon 1 WASbase_AF196970.2:g.32204C>G AF196970.2:g.32204C>G WASbase substitution exon 1 WASbase_AF196970.2:g.32214G>A AF196970.2:g.32214G>A WASbase substitution exon 1 WASbase_AF196970.2:g.33401delC AF196970.2:g.33401delC WASbase deletion exon 1 WASbase_AF196970.2:g.33401dupC AF196970.2:g.33401dupC WASbase duplication exon 1 WASbase_AF196970.2:g.33425_33426insGGAGAT AF196970.2:g.33425_33426insGGAGAT WASbase insertion exon 1 WASbase_AF196970.2:g.33613dupA AF196970.2:g.33613dupA WASbase duplication exon 1 WASbase_AF196970.2:g.35880delC AF196970.2:g.35880delC WASbase deletion exon 1 WASbase_AF196970.2:g.36510delG AF196970.2:g.36510delG WASbase deletion exon 1 WASbase_AF196970.2:g.36527delG AF196970.2:g.36527delG WASbase deletion exon 1 WASbase_AF196970.2:g.36548dupC AF196970.2:g.36548dupC WASbase duplication exon 1 WASbase_AF196970.2:g.36605delC AF196970.2:g.36605delC WASbase deletion exon 1 WASbase_AF196970.2:g.36616C>T AF196970.2:g.36616C>T WASbase substitution exon 1 WASbase_AF196970.2:g.36677delC AF196970.2:g.36677delC WASbase deletion exon 1 WASbase_AF196970.2:g.36677dupC AF196970.2:g.36677dupC WASbase duplication exon 1 WASbase_AF196970.2:g.31784G>T AF196970.2:g.31784G>T WASbase substitution intron 1 WASbase_AF196970.2:g.31784G>A AF196970.2:g.31784G>A WASbase substitution intron 1 ZAP70base_D0057:g.11708C>A D0057:g.11708C>A ZAP70base substitution exon 1 ZAP70base_D0057:g.25518A>T D0057:g.25518A>T ZAP70base substitution exon 1 ZAP70base_D0057:g.22073T>G D0057:g.22073T>G ZAP70base substitution exon 1 ZAP70base_D0057:g.25009C>T D0057:g.25009C>T ZAP70base substitution exon 1 ZAP70base_D0057:g.25217_25229del D0057:g.25217_25229del ZAP70base deletion exon 1 ZAP70base_D0057:g.25227C>T D0057:g.25227C>T ZAP70base substitution exon 1 ZAP70base_D0057:g.25261C>A D0057:g.25261C>A ZAP70base substitution exon 1 ZAP70base_D0057:g.25417G>A D0057:g.25417G>A ZAP70base substitution intron 1 ZAP70base_D0057:g.25494T>C D0057:g.25494T>C ZAP70base substitution exon 1 KinMutBase_TGFBR2_DNA:g.85628G>C TGFBR2_DNA:g.85628G>C KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.85594G>C TGFBR2_DNA:g.85594G>C KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.68345A>G TGFBR2_DNA:g.68345A>G KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.66250C>T TGFBR2_DNA:g.66250C>T KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.66520A>G TGFBR2_DNA:g.66520A>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.79710T>G RPS6KA3_DNA:g.79710T>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.58326G>T RPS6KA3_DNA:g.58326G>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.105964G>A RPS6KA3_DNA:g.105964G>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.63530G>T RPS6KA3_DNA:g.63530G>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.102642C>T RPS6KA3_DNA:g.102642C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.99982C>T RPS6KA3_DNA:g.99982C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.90616C>T RPS6KA3_DNA:g.90616C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.81309C>T RPS6KA3_DNA:g.81309C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.72496C>T RPS6KA3_DNA:g.72496C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.72490C>T RPS6KA3_DNA:g.72490C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.63582delT RPS6KA3_DNA:g.63582delT KinMutBase deletion exon 1 KinMutBase_RPS6KA3_DNA:g.63548delA RPS6KA3_DNA:g.63548delA KinMutBase deletion exon 1 KinMutBase_RPS6KA3_DNA:g.72543T>G RPS6KA3_DNA:g.72543T>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.94826G>A RPS6KA3_DNA:g.94826G>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.73418G>T RPS6KA3_DNA:g.73418G>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.79705C>T RPS6KA3_DNA:g.79705C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43492A>G RET_DNA:g.43492A>G KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42397A>T RET_DNA:g.42397A>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44081T>G RET_DNA:g.44081T>G KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42321C>T RET_DNA:g.42321C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42395G>T RET_DNA:g.42395G>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42395G>C RET_DNA:g.42395G>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45908C>T RET_DNA:g.45908C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.47631G>A RET_DNA:g.47631G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43485G>A RET_DNA:g.43485G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43485G>T RET_DNA:g.43485G>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45917C>A RET_DNA:g.45917C>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42318T>C RET_DNA:g.42318T>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.47720A>G RET_DNA:g.47720A>G KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44100G>A RET_DNA:g.44100G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.47724C>T RET_DNA:g.47724C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45905T>C RET_DNA:g.45905T>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45913G>T RET_DNA:g.45913G>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42329G>C RET_DNA:g.42329G>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.40668G>C RET_DNA:g.40668G>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.15407delC STK11_DNA:g.15407delC KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.15407C>T STK11_DNA:g.15407C>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.15304delA STK11_DNA:g.15304delA KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.15300delC STK11_DNA:g.15300delC KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.13454delC STK11_DNA:g.13454delC KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.14714G>A STK11_DNA:g.14714G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14506G>A STK11_DNA:g.14506G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14590G>A STK11_DNA:g.14590G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14692G>A STK11_DNA:g.14692G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1180C>G STK11_DNA:g.1180C>G KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.15324C>A STK11_DNA:g.15324C>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14786delG STK11_DNA:g.14786delG KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.14503C>T STK11_DNA:g.14503C>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.15408delG STK11_DNA:g.15408delG KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.1200T>C STK11_DNA:g.1200T>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1250A>T STK11_DNA:g.1250A>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.16081delT STK11_DNA:g.16081delT KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.14483G>A STK11_DNA:g.14483G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1208G>T STK11_DNA:g.1208G>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1169G>T STK11_DNA:g.1169G>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14575G>T STK11_DNA:g.14575G>T KinMutBase substitution exon 1 KinMutBase_TEK_DNA:g.49939C>T TEK_DNA:g.49939C>T KinMutBase substitution exon 1 KinMutBase_PAK3_DNA:g.74385C>T PAK3_DNA:g.74385C>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.19327C>T NTRK1_DNA:g.19327C>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.16493delC NTRK1_DNA:g.16493delC KinMutBase deletion exon 1 KinMutBase_NTRK1_DNA:g.16592A>G NTRK1_DNA:g.16592A>G KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.19192C>T NTRK1_DNA:g.19192C>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.20158G>A NTRK1_DNA:g.20158G>A KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.19220G>T NTRK1_DNA:g.19220G>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.16562G>C NTRK1_DNA:g.16562G>C KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111955T>C MET_DNA:g.111955T>C KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111956A>G MET_DNA:g.111956A>G KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111925G>A MET_DNA:g.111925G>A KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.110623G>T MET_DNA:g.110623G>T KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.112016T>C MET_DNA:g.112016T>C KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.107423T>C MET_DNA:g.107423T>C KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.110644C>G MET_DNA:g.110644C>G KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111949G>A MET_DNA:g.111949G>A KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111949G>C MET_DNA:g.111949G>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.71041delA KIT_DNA:g.71041delA KinMutBase deletion exon 1 KinMutBase_KIT_DNA:g.71065A>C KIT_DNA:g.71065A>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.71006delT KIT_DNA:g.71006delT KinMutBase deletion exon 1 KinMutBase_KIT_DNA:g.71006T>A KIT_DNA:g.71006T>A KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.71106G>A KIT_DNA:g.71106G>A KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.79580A>C KIT_DNA:g.79580A>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76152A>G KIT_DNA:g.76152A>G KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76140A>T KIT_DNA:g.76140A>T KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.70894G>A KIT_DNA:g.70894G>A KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.4745G>A ACVRL1_DNA:g.4745G>A KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.4633C>T ACVRL1_DNA:g.4633C>T KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.7534C>A ACVRL1_DNA:g.7534C>A KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.4640T>G ACVRL1_DNA:g.4640T>G KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.175329G>C INSR_DNA:g.175329G>C KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174272G>T INSR_DNA:g.174272G>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174215G>A INSR_DNA:g.174215G>A KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174185G>A INSR_DNA:g.174185G>A KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.172222G>A INSR_DNA:g.172222G>A KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174227C>T INSR_DNA:g.174227C>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174153G>A INSR_DNA:g.174153G>A KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.172157delG INSR_DNA:g.172157delG KinMutBase deletion exon 1 KinMutBase_INSR_DNA:g.171927A>G INSR_DNA:g.171927A>G KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174231G>C INSR_DNA:g.174231G>C KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.172234C>A INSR_DNA:g.172234C>A KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.172230G>A INSR_DNA:g.172230G>A KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.169575C>A INSR_DNA:g.169575C>A KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.12748A>C FGFR3_DNA:g.12748A>C KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.12749C>G FGFR3_DNA:g.12749C>G KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.12749C>A FGFR3_DNA:g.12749C>A KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.13268A>T FGFR3_DNA:g.13268A>T KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.13267A>G FGFR3_DNA:g.13267A>G KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.12741A>G FGFR3_DNA:g.12741A>G KinMutBase substitution exon 1 KinMutBase_CDK4_DNA:g.1072G>A CDK4_DNA:g.1072G>A KinMutBase substitution exon 1 KinMutBase_CDK4_DNA:g.1071C>T CDK4_DNA:g.1071C>T KinMutBase substitution exon 1 KinMutBase_CDK4_DNA:g.1123A>G CDK4_DNA:g.1123A>G KinMutBase substitution exon 1 KinMutBase_ZAP70_DNA:g.14792C>A ZAP70_DNA:g.14792C>A KinMutBase substitution exon 1 KinMutBase_ZAP70_DNA:g.14959A>A ZAP70_DNA:g.14959A>A KinMutBase substitution exon 1 KinMutBase_ZAP70_DNA:g.14758C>T ZAP70_DNA:g.14758C>T KinMutBase substitution exon 1 KinMutBase_ZAP70_DNA:g.15049A>T ZAP70_DNA:g.15049A>T KinMutBase substitution exon 1 KinMutBase_ZAP70_DNA:g.14748delA ZAP70_DNA:g.14748delA KinMutBase deletion exon 1 KinMutBase_ZAP70_DNA:g.14948G>A ZAP70_DNA:g.14948G>A KinMutBase substitution intron 1 KinMutBase_ZAP70_DNA:g.14540C>T ZAP70_DNA:g.14540C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68190A>C U78027.1:g.68190A>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64518A>T U78027.1:g.64518A>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66839T>C U78027.1:g.66839T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71555T>C U78027.1:g.71555T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65416G>A U78027.1:g.65416G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68124G>C U78027.1:g.68124G>C KinMutBase substitution intron 1 KinMutBase_U78027.1:g.67537T>A U78027.1:g.67537T>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65232C>T U78027.1:g.65232C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68280G>T U78027.1:g.68280G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67527A>T U78027.1:g.67527A>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66788G>A U78027.1:g.66788G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65390C>A U78027.1:g.65390C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65382A>G U78027.1:g.65382A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67605G>T U78027.1:g.67605G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65242G>A U78027.1:g.65242G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65236T>A U78027.1:g.65236T>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68166T>G U78027.1:g.68166T>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68184delA U78027.1:g.68184delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68155G>A U78027.1:g.68155G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65363C>G U78027.1:g.65363C>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67570_67571insT U78027.1:g.67570_67571insT KinMutBase insertion exon 1 KinMutBase_U78027.1:g.63920dupG U78027.1:g.63920dupG KinMutBase duplication exon 1 KinMutBase_U78027.1:g.67600C>T U78027.1:g.67600C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68229C>A U78027.1:g.68229C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.63991_63992insGGTAGAAAAAA U78027.1:g.63991_63992insGGTAGAAAAAA KinMutBase insertion intron 1 KinMutBase_U78027.1:g.68242C>T U78027.1:g.68242C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65374G>A U78027.1:g.65374G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64617C>A U78027.1:g.64617C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66793T>A U78027.1:g.66793T>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66795delT U78027.1:g.66795delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.65283T>G U78027.1:g.65283T>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65253A>T U78027.1:g.65253A>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65213delT U78027.1:g.65213delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.64605G>A U78027.1:g.64605G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68212G>A U78027.1:g.68212G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65218A>G U78027.1:g.65218A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66769_66772delTTTG U78027.1:g.66769_66772delTTTG KinMutBase deletion intron 1 KinMutBase_U78027.1:g.65388_65389insG U78027.1:g.65388_65389insG KinMutBase insertion exon 1 KinMutBase_U78027.1:g.67566delT U78027.1:g.67566delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.67554G>A U78027.1:g.67554G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68220C>T U78027.1:g.68220C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67539C>T U78027.1:g.67539C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66781delG U78027.1:g.66781delG KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68261_68262insT U78027.1:g.68261_68262insT KinMutBase insertion exon 1 KinMutBase_U78027.1:g.65242G>T U78027.1:g.65242G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68194C>A U78027.1:g.68194C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65392T>C U78027.1:g.65392T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66787C>T U78027.1:g.66787C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67600delC U78027.1:g.67600delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.63962A>G U78027.1:g.63962A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65373T>C U78027.1:g.65373T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65368A>T U78027.1:g.65368A>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71534G>A U78027.1:g.71534G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68258C>T U78027.1:g.68258C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68266delA U78027.1:g.68266delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68275G>C U78027.1:g.68275G>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68140A>G U78027.1:g.68140A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67603T>C U78027.1:g.67603T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65212T>C U78027.1:g.65212T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.63968delT U78027.1:g.63968delT KinMutBase deletion intron 1 KinMutBase_U78027.1:g.68167A>G U78027.1:g.68167A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64569dupG U78027.1:g.64569dupG KinMutBase duplication exon 1 KinMutBase_U78027.1:g.66846G>T U78027.1:g.66846G>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66794G>T U78027.1:g.66794G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64663G>T U78027.1:g.64663G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68283G>T U78027.1:g.68283G>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66802delA U78027.1:g.66802delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.67598G>A U78027.1:g.67598G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65374G>T U78027.1:g.65374G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67548C>A U78027.1:g.67548C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64630A>G U78027.1:g.64630A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68137G>A U78027.1:g.68137G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65384G>A U78027.1:g.65384G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65424G>C U78027.1:g.65424G>C KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66846G>C U78027.1:g.66846G>C KinMutBase substitution intron 1 KinMutBase_U78027.1:g.68154G>C U78027.1:g.68154G>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71520_71521insT U78027.1:g.71520_71521insT KinMutBase insertion exon 1 KinMutBase_U78027.1:g.71544C>A U78027.1:g.71544C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65415C>T U78027.1:g.65415C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67531T>C U78027.1:g.67531T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68229C>T U78027.1:g.68229C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67487G>T U78027.1:g.67487G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66792C>G U78027.1:g.66792C>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67484C>A U78027.1:g.67484C>A KinMutBase substitution intron 1 KinMutBase_U78027.1:g.71552T>G U78027.1:g.71552T>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.63965C>A U78027.1:g.63965C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71537delC U78027.1:g.71537delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.67516C>G U78027.1:g.67516C>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68263T>A U78027.1:g.68263T>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68208delC U78027.1:g.68208delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68268delA U78027.1:g.68268delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.64630delA U78027.1:g.64630delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.67540G>C U78027.1:g.67540G>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68134T>C U78027.1:g.68134T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66793delT U78027.1:g.66793delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68238G>C U78027.1:g.68238G>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68186_68187insG U78027.1:g.68186_68187insG KinMutBase insertion exon 1 KinMutBase_U78027.1:g.63964dupA U78027.1:g.63964dupA KinMutBase duplication exon 1 KinMutBase_U78027.1:g.68172A>T U78027.1:g.68172A>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66779A>C U78027.1:g.66779A>C KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66844A>G U78027.1:g.66844A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64696G>T U78027.1:g.64696G>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.68272G>A U78027.1:g.68272G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65424G>T U78027.1:g.65424G>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.67543G>T U78027.1:g.67543G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65418G>A U78027.1:g.65418G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68255_68256insC U78027.1:g.68255_68256insC KinMutBase insertion exon 1 KinMutBase_U78027.1:g.63945delT U78027.1:g.63945delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68163C>A U78027.1:g.68163C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67543G>A U78027.1:g.67543G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68124G>T U78027.1:g.68124G>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66782C>A U78027.1:g.66782C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.63920_63921ins6 U78027.1:g.63920_63921ins6 KinMutBase insertion exon 1 KinMutBase_U78027.1:g.68223_68224insC U78027.1:g.68223_68224insC KinMutBase insertion exon 1 KinMutBase_U78027.1:g.66828delT U78027.1:g.66828delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.64512_64513insC U78027.1:g.64512_64513insC KinMutBase insertion intron 1 KinMutBase_U78027.1:g.65285delC U78027.1:g.65285delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68283_68284insC U78027.1:g.68283_68284insC KinMutBase insertion intron 1 KinMutBase_U78027.1:g.65382dupA U78027.1:g.65382dupA KinMutBase duplication exon 1 KinMutBase_U78027.1:g.71564delT U78027.1:g.71564delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.65419A>G U78027.1:g.65419A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64565T>C U78027.1:g.64565T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71567T>C U78027.1:g.71567T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68208C>T U78027.1:g.68208C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66845G>A U78027.1:g.66845G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71533C>T U78027.1:g.71533C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68276G>A U78027.1:g.68276G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65383T>C U78027.1:g.65383T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65324delG U78027.1:g.65324delG KinMutBase deletion exon 1 KinMutBase_U78027.1:g.63955dupG U78027.1:g.63955dupG KinMutBase duplication exon 1 KinMutBase_U78027.1:g.65287T>G U78027.1:g.65287T>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65346C>T U78027.1:g.65346C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67607_67608insT U78027.1:g.67607_67608insT KinMutBase insertion intron 1 KinMutBase_U78027.1:g.67568dupT U78027.1:g.67568dupT KinMutBase duplication exon 1 KinMutBase_U78027.1:g.68251T>G U78027.1:g.68251T>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67553delG U78027.1:g.67553delG KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68265delT U78027.1:g.68265delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.64677A>C U78027.1:g.64677A>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.71543T>C U78027.1:g.71543T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.63934A>T U78027.1:g.63934A>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64697T>G U78027.1:g.64697T>G KinMutBase substitution intron 1 KinMutBase_U78027.1:g.65359T>C U78027.1:g.65359T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67610G>A U78027.1:g.67610G>A KinMutBase substitution intron 1 KinMutBase_U78027.1:g.66780_66781insA U78027.1:g.66780_66781insA KinMutBase insertion exon 1 KinMutBase_U78027.1:g.64582G>A U78027.1:g.64582G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68147C>A U78027.1:g.68147C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66787C>G U78027.1:g.66787C>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67523delC U78027.1:g.67523delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.65415C>G U78027.1:g.65415C>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67549C>T U78027.1:g.67549C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64696G>A U78027.1:g.64696G>A KinMutBase substitution intron 1 KinMutBase_U78027.1:g.65410T>G U78027.1:g.65410T>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68263T>C U78027.1:g.68263T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67580C>A U78027.1:g.67580C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65333delC U78027.1:g.65333delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68279dupT U78027.1:g.68279dupT KinMutBase duplication exon 1 KinMutBase_U78027.1:g.64545delC U78027.1:g.64545delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68220delC U78027.1:g.68220delC KinMutBase deletion exon 1 KinMutBase_U78027.1:g.67596T>C U78027.1:g.67596T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67551C>T U78027.1:g.67551C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66826T>C U78027.1:g.66826T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68253T>C U78027.1:g.68253T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64628T>A U78027.1:g.64628T>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65323delT U78027.1:g.65323delT KinMutBase deletion exon 1 KinMutBase_U78027.1:g.66824T>A U78027.1:g.66824T>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66788G>C U78027.1:g.66788G>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68209A>C U78027.1:g.68209A>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.63924C>T U78027.1:g.63924C>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.66811delG U78027.1:g.66811delG KinMutBase deletion exon 1 KinMutBase_U78027.1:g.66836G>A U78027.1:g.66836G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68278delA U78027.1:g.68278delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.65362G>T U78027.1:g.65362G>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65314T>C U78027.1:g.65314T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68142delA U78027.1:g.68142delA KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68148T>C U78027.1:g.68148T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68149C>A U78027.1:g.68149C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65312C>A U78027.1:g.65312C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68237delG U78027.1:g.68237delG KinMutBase deletion exon 1 KinMutBase_U78027.1:g.68141A>T U78027.1:g.68141A>T KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64631A>G U78027.1:g.64631A>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68154G>A U78027.1:g.68154G>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68202_68203insC U78027.1:g.68202_68203insC KinMutBase insertion exon 1 KinMutBase_U78027.1:g.67605delG U78027.1:g.67605delG KinMutBase deletion exon 1 KinMutBase_U78027.1:g.64692G>A U78027.1:g.64692G>A KinMutBase substitution intron 1 KinMutBase_U78027.1:g.68229C>G U78027.1:g.68229C>G KinMutBase substitution exon 1 KinMutBase_U78027.1:g.68133A>C U78027.1:g.68133A>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.65363C>A U78027.1:g.65363C>A KinMutBase substitution exon 1 KinMutBase_U78027.1:g.67561T>C U78027.1:g.67561T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64594T>C U78027.1:g.64594T>C KinMutBase substitution exon 1 KinMutBase_U78027.1:g.64692G>T U78027.1:g.64692G>T KinMutBase substitution intron 1 KinMutBase_U78027.1:g.65418G>C U78027.1:g.65418G>C KinMutBase substitution exon 1 KinMutBase_MERTK_DNA:g.110731C>T MERTK_DNA:g.110731C>T KinMutBase substitution exon 1 KinMutBase_MERTK_DNA:g.112322delA MERTK_DNA:g.112322delA KinMutBase deletion exon 1 KinMutBase_KIT_DNA:g.76079A>G KIT_DNA:g.76079A>G KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.79537A>C KIT_DNA:g.79537A>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76139G>C KIT_DNA:g.76139G>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.71040delA KIT_DNA:g.71040delA KinMutBase deletion exon 1 KinMutBase_KIT_DNA:g.76064A>G KIT_DNA:g.76064A>G KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76128G>T KIT_DNA:g.76128G>T KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76139G>T KIT_DNA:g.76139G>T KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.79787delA KIT_DNA:g.79787delA KinMutBase deletion exon 1 KinMutBase_FGFR3_DNA:g.12748A>G FGFR3_DNA:g.12748A>G KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.13269G>T FGFR3_DNA:g.13269G>T KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.13269G>C FGFR3_DNA:g.13269G>C KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.13267A>C FGFR3_DNA:g.13267A>C KinMutBase substitution exon 1 KinMutBase_ROR2_DNA:g.226829G>A ROR2_DNA:g.226829G>A KinMutBase substitution exon 1 KinMutBase_ROR2_DNA:g.226529T>A ROR2_DNA:g.226529T>A KinMutBase substitution exon 1 KinMutBase_ROR2_DNA:g.226173C>T ROR2_DNA:g.226173C>T KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.49841delC CHEK2_DNA:g.49841delC KinMutBase deletion exon 1 KinMutBase_CHEK2_DNA:g.51639delT CHEK2_DNA:g.51639delT KinMutBase deletion exon 1 KinMutBase_FLT4_DNA:g.30803G>A FLT4_DNA:g.30803G>A KinMutBase substitution exon 1 KinMutBase_FLT4_DNA:g.34082G>C FLT4_DNA:g.34082G>C KinMutBase substitution exon 1 KinMutBase_FLT4_DNA:g.34091T>C FLT4_DNA:g.34091T>C KinMutBase substitution exon 1 KinMutBase_FLT4_DNA:g.37445C>T FLT4_DNA:g.37445C>T KinMutBase substitution exon 1 KinMutBase_FLT4_DNA:g.34064A>G FLT4_DNA:g.34064A>G KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.13439G>C STK11_DNA:g.13439G>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14576A>T STK11_DNA:g.14576A>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.12534delC STK11_DNA:g.12534delC KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.12536A>G STK11_DNA:g.12536A>G KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.15332A>C STK11_DNA:g.15332A>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14764T>C STK11_DNA:g.14764T>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.16063G>A STK11_DNA:g.16063G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14575G>A STK11_DNA:g.14575G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1157dupG STK11_DNA:g.1157dupG KinMutBase duplication exon 1 KinMutBase_ACVRL1_DNA:g.3976G>T ACVRL1_DNA:g.3976G>T KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.3902C>A ACVRL1_DNA:g.3902C>A KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.3842dupT ACVRL1_DNA:g.3842dupT KinMutBase duplication exon 1 KinMutBase_JAK3_DNA:g.14105G>A JAK3_DNA:g.14105G>A KinMutBase substitution exon 1 KinMutBase_JAK3_DNA:g.11054C>A JAK3_DNA:g.11054C>A KinMutBase substitution exon 1 KinMutBase_HSU70065:g.9454T>C HSU70065:g.9454T>C KinMutBase substitution intron 1 KinMutBase_JAK3_DNA:g.14346T>C JAK3_DNA:g.14346T>C KinMutBase substitution exon 1 KinMutBase_JAK3_DNA:g.11843G>T JAK3_DNA:g.11843G>T KinMutBase substitution exon 1 KinMutBase_JAK3_DNA:g.11821C>T JAK3_DNA:g.11821C>T KinMutBase substitution exon 1 KinMutBase_JAK3_DNA:g.18465delC JAK3_DNA:g.18465delC KinMutBase deletion exon 1 KinMutBase_JAK3_DNA:g.17242T>C JAK3_DNA:g.17242T>C KinMutBase substitution exon 1 KinMutBase_JAK3_DNA:g.18462C>A JAK3_DNA:g.18462C>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.58324A>C RPS6KA3_DNA:g.58324A>C KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.58340G>A RPS6KA3_DNA:g.58340G>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.72502C>T RPS6KA3_DNA:g.72502C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.72518G>C RPS6KA3_DNA:g.72518G>C KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.74119T>A RPS6KA3_DNA:g.74119T>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.74130G>A RPS6KA3_DNA:g.74130G>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.79723C>T RPS6KA3_DNA:g.79723C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.58307G>T RPS6KA3_DNA:g.58307G>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.81297C>T RPS6KA3_DNA:g.81297C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.79758C>T RPS6KA3_DNA:g.79758C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.90635T>A RPS6KA3_DNA:g.90635T>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.94887G>C RPS6KA3_DNA:g.94887G>C KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.98188T>G RPS6KA3_DNA:g.98188T>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.98211A>G RPS6KA3_DNA:g.98211A>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.99917T>G RPS6KA3_DNA:g.99917T>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.99929T>G RPS6KA3_DNA:g.99929T>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.102580A>T RPS6KA3_DNA:g.102580A>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.102602C>A RPS6KA3_DNA:g.102602C>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.102729C>T RPS6KA3_DNA:g.102729C>T KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.105888A>G RPS6KA3_DNA:g.105888A>G KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.102669C>T RPS6KA3_DNA:g.102669C>T KinMutBase substitution exon 1 KinMutBase_TEK_DNA:g.55887A>C TEK_DNA:g.55887A>C KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.16208G>A NTRK1_DNA:g.16208G>A KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.16637C>T NTRK1_DNA:g.16637C>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.19342C>T NTRK1_DNA:g.19342C>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.19402G>T NTRK1_DNA:g.19402G>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.21645dupT NTRK1_DNA:g.21645dupT KinMutBase duplication exon 1 KinMutBase_NTRK1_DNA:g.21656G>C NTRK1_DNA:g.21656G>C KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.20102C>T NTRK1_DNA:g.20102C>T KinMutBase substitution exon 1 KinMutBase_NTRK1_DNA:g.19242_19243insT NTRK1_DNA:g.19242_19243insT KinMutBase insertion exon 1 KinMutBase_AY186092.1:g.21175C>T AY186092.1:g.21175C>T KinMutBase substitution exon 1 KinMutBase_AY186092.1:g.20671delT AY186092.1:g.20671delT KinMutBase deletion exon 1 KinMutBase_AY186092.1:g.15978delA AY186092.1:g.15978delA KinMutBase deletion exon 1 KinMutBase_RET_DNA:g.42326T>G RET_DNA:g.42326T>G KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44028G>A RET_DNA:g.44028G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44087T>C RET_DNA:g.44087T>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44129A>G RET_DNA:g.44129A>G KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.47745T>C RET_DNA:g.47745T>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45913G>A RET_DNA:g.45913G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.40584G>A RET_DNA:g.40584G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.47632G>C RET_DNA:g.47632G>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.47711C>T RET_DNA:g.47711C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44062G>C RET_DNA:g.44062G>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42336G>A RET_DNA:g.42336G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43513G>A RET_DNA:g.43513G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45917C>T RET_DNA:g.45917C>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.17075G>T STK11_DNA:g.17075G>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14521G>A STK11_DNA:g.14521G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14569dupA STK11_DNA:g.14569dupA KinMutBase duplication exon 1 KinMutBase_STK11_DNA:g.16076delG STK11_DNA:g.16076delG KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.1158delA STK11_DNA:g.1158delA KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.14465T>C STK11_DNA:g.14465T>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.13490C>T STK11_DNA:g.13490C>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14536A>T STK11_DNA:g.14536A>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.17074G>A STK11_DNA:g.17074G>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14728C>T STK11_DNA:g.14728C>T KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111970T>G MET_DNA:g.111970T>G KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.107549C>T MET_DNA:g.107549C>T KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.112017G>A MET_DNA:g.112017G>A KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.111998A>G MET_DNA:g.111998A>G KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.106006A>G MET_DNA:g.106006A>G KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.106005C>T MET_DNA:g.106005C>T KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.106041C>G MET_DNA:g.106041C>G KinMutBase substitution exon 1 KinMutBase_MET_DNA:g.105999G>A MET_DNA:g.105999G>A KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.79513G>A KIT_DNA:g.79513G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44057G>T RET_DNA:g.44057G>T KinMutBase substitution exon 1 KinMutBase_RHOK_DNA:g.1001C>T RHOK_DNA:g.1001C>T KinMutBase substitution exon 1 KinMutBase_RHOK_DNA:g.1097A>G RHOK_DNA:g.1097A>G KinMutBase substitution exon 1 KinMutBase_RHOK_DNA:g.1421G>A RHOK_DNA:g.1421G>A KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.33724G>T CHEK2_DNA:g.33724G>T KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.33724G>A CHEK2_DNA:g.33724G>A KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.33760A>T CHEK2_DNA:g.33760A>T KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.45817G>A CHEK2_DNA:g.45817G>A KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.45831A>C CHEK2_DNA:g.45831A>C KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.45844A>G CHEK2_DNA:g.45844A>G KinMutBase substitution exon 1 KinMutBase_CHEK2_DNA:g.51644C>A CHEK2_DNA:g.51644C>A KinMutBase substitution exon 1 KinMutBase_FGFR1_DNA:g.55008T>A FGFR1_DNA:g.55008T>A KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76159T>A KIT_DNA:g.76159T>A KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76160T>G KIT_DNA:g.76160T>G KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76161A>G KIT_DNA:g.76161A>G KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76095C>T KIT_DNA:g.76095C>T KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.71040A>C KIT_DNA:g.71040A>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76151G>T KIT_DNA:g.76151G>T KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.71040A>G KIT_DNA:g.71040A>G KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.76157A>C KIT_DNA:g.76157A>C KinMutBase substitution exon 1 KinMutBase_KIT_DNA:g.74314delA KIT_DNA:g.74314delA KinMutBase deletion exon 1 KinMutBase_KIT_DNA:g.72437delA KIT_DNA:g.72437delA KinMutBase deletion exon 1 KinMutBase_KIT_DNA:g.76137G>A KIT_DNA:g.76137G>A KinMutBase substitution exon 1 KinMutBase_FGFR3_DNA:g.13268A>C FGFR3_DNA:g.13268A>C KinMutBase substitution exon 1 KinMutBase_FGFR2_DNA:g.100882A>C FGFR2_DNA:g.100882A>C KinMutBase substitution exon 1 KinMutBase_FGFR2_DNA:g.102703A>G FGFR2_DNA:g.102703A>G KinMutBase substitution exon 1 KinMutBase_FGFR2_DNA:g.111349A>G FGFR2_DNA:g.111349A>G KinMutBase substitution exon 1 KinMutBase_FGFR2_DNA:g.111404G>T FGFR2_DNA:g.111404G>T KinMutBase substitution exon 1 KinMutBase_FGFR2_DNA:g.111981G>A FGFR2_DNA:g.111981G>A KinMutBase substitution exon 1 KinMutBase_FGFR2_DNA:g.112025A>G FGFR2_DNA:g.112025A>G KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.169455G>T INSR_DNA:g.169455G>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.169515C>T INSR_DNA:g.169515C>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.171999C>T INSR_DNA:g.171999C>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.172177T>C INSR_DNA:g.172177T>C KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.172221C>T INSR_DNA:g.172221C>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174214C>T INSR_DNA:g.174214C>T KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.174229G>A INSR_DNA:g.174229G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43606G>T RET_DNA:g.43606G>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.48824C>T RET_DNA:g.48824C>T KinMutBase substitution exon 1 KinMutBase_RHOK_DNA:g.1247T>A RHOK_DNA:g.1247T>A KinMutBase substitution exon 1 KinMutBase_U29700:g.7064delC U29700:g.7064delC KinMutBase deletion exon 1 KinMutBase_U29700:g.2790T>G U29700:g.2790T>G KinMutBase substitution exon 1 KinMutBase_U29700:g.6844A>G U29700:g.6844A>G KinMutBase substitution exon 1 KinMutBase_U29700:g.7107T>C U29700:g.7107T>C KinMutBase substitution exon 1 KinMutBase_U29700:g.8101G>C U29700:g.8101G>C KinMutBase substitution exon 1 KinMutBase_U29700:g.8140C>T U29700:g.8140C>T KinMutBase substitution exon 1 KinMutBase_U29700:g.6784G>A U29700:g.6784G>A KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.142357C>T BMPR2_DNA:g.142357C>T KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.142415delA BMPR2_DNA:g.142415delA KinMutBase deletion exon 1 KinMutBase_BMPR2_DNA:g.142453G>T BMPR2_DNA:g.142453G>T KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.154346C>T BMPR2_DNA:g.154346C>T KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.154428delC BMPR2_DNA:g.154428delC KinMutBase deletion exon 1 KinMutBase_BMPR2_DNA:g.156173delT BMPR2_DNA:g.156173delT KinMutBase deletion exon 1 KinMutBase_BMPR2_DNA:g.156240T>C BMPR2_DNA:g.156240T>C KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.176299C>T BMPR2_DNA:g.176299C>T KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.154451delG BMPR2_DNA:g.154451delG KinMutBase deletion exon 1 KinMutBase_BMPR2_DNA:g.176300G>A BMPR2_DNA:g.176300G>A KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.142416A>T BMPR2_DNA:g.142416A>T KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.176282A>G BMPR2_DNA:g.176282A>G KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.154392G>A BMPR2_DNA:g.154392G>A KinMutBase substitution exon 1 KinMutBase_BMPR2_DNA:g.142512dupT BMPR2_DNA:g.142512dupT KinMutBase duplication exon 1 KinMutBase_BMPR2_DNA:g.156230delA BMPR2_DNA:g.156230delA KinMutBase deletion exon 1 KinMutBase_BMPR2_DNA:g.156228_156229insG BMPR2_DNA:g.156228_156229insG KinMutBase insertion exon 1 KinMutBase_BMPR2_DNA:g.176275T>C BMPR2_DNA:g.176275T>C KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.161628C>T BMPR1A_DNA:g.161628C>T KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.163737C>T BMPR1A_DNA:g.163737C>T KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.163669C>A BMPR1A_DNA:g.163669C>A KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.163783G>A BMPR1A_DNA:g.163783G>A KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.161526C>T BMPR1A_DNA:g.161526C>T KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.161623G>A BMPR1A_DNA:g.161623G>A KinMutBase substitution exon 1 KinMutBase_BMPR1A_DNA:g.163617delC BMPR1A_DNA:g.163617delC KinMutBase deletion exon 1 KinMutBase_BMPR1A_DNA:g.161595delG BMPR1A_DNA:g.161595delG KinMutBase deletion exon 1 KinMutBase_BMPR1A_DNA:g.161637delG BMPR1A_DNA:g.161637delG KinMutBase deletion exon 1 KinMutBase_RET_DNA:g.42329G>T RET_DNA:g.42329G>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43485G>C RET_DNA:g.43485G>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.42410C>A RET_DNA:g.42410C>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45916T>C RET_DNA:g.45916T>C KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.45941C>T RET_DNA:g.45941C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43620G>A RET_DNA:g.43620G>A KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.44027C>T RET_DNA:g.44027C>T KinMutBase substitution exon 1 KinMutBase_RET_DNA:g.43597C>T RET_DNA:g.43597C>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14525T>A STK11_DNA:g.14525T>A KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.16083C>T STK11_DNA:g.16083C>T KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14474T>C STK11_DNA:g.14474T>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.14761T>C STK11_DNA:g.14761T>C KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1196G>A STK11_DNA:g.1196G>A KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.66055T>C TGFBR2_DNA:g.66055T>C KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.68316A>G TGFBR2_DNA:g.68316A>G KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.82572A>G TGFBR2_DNA:g.82572A>G KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.66425G>T TGFBR2_DNA:g.66425G>T KinMutBase substitution exon 1 KinMutBase_TGFBR2_DNA:g.66508C>T TGFBR2_DNA:g.66508C>T KinMutBase substitution exon 1 KinMutBase_PAK3_DNA:g.72299C>A PAK3_DNA:g.72299C>A KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53109G>T FLT3_DNA:g.53109G>T KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53110A>T FLT3_DNA:g.53110A>T KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53109G>C FLT3_DNA:g.53109G>C KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53111T>A FLT3_DNA:g.53111T>A KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53109G>A FLT3_DNA:g.53109G>A KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53112A>T FLT3_DNA:g.53112A>T KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53110A>C FLT3_DNA:g.53110A>C KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53111T>G FLT3_DNA:g.53111T>G KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53109delG FLT3_DNA:g.53109delG KinMutBase deletion exon 1 KinMutBase_FLT3_DNA:g.43422C>T FLT3_DNA:g.43422C>T KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53110A>G FLT3_DNA:g.53110A>G KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53112delA FLT3_DNA:g.53112delA KinMutBase deletion exon 1 KinMutBase_FLT3_DNA:g.53113T>C FLT3_DNA:g.53113T>C KinMutBase substitution exon 1 KinMutBase_FLT3_DNA:g.53113_53114insG FLT3_DNA:g.53113_53114insG KinMutBase insertion exon 1 KinMutBase_FLT3_DNA:g.53126_53127insG FLT3_DNA:g.53126_53127insG KinMutBase insertion exon 1 KinMutBase_BMPR1A_DNA:g.167795T>C BMPR1A_DNA:g.167795T>C KinMutBase substitution exon 1 KinMutBase_AJ222657:g.8429G>A AJ222657:g.8429G>A KinMutBase substitution exon 1 KinMutBase_AJ222657:g.6858T>C AJ222657:g.6858T>C KinMutBase substitution exon 1 KinMutBase_AJ222657:g.8156delG AJ222657:g.8156delG KinMutBase deletion exon 1 KinMutBase_AJ222657:g.5311C>T AJ222657:g.5311C>T KinMutBase substitution exon 1 KinMutBase_AJ222657:g.9184A>G AJ222657:g.9184A>G KinMutBase substitution exon 1 KinMutBase_AJ222657:g.8428C>T AJ222657:g.8428C>T KinMutBase substitution exon 1 KinMutBase_AJ222657:g.9875C>T AJ222657:g.9875C>T KinMutBase substitution exon 1 KinMutBase_AJ222657:g.9890A>C AJ222657:g.9890A>C KinMutBase substitution exon 1 KinMutBase_AJ222657:g.10656C>T AJ222657:g.10656C>T KinMutBase substitution exon 1 KinMutBase_AJ222657:g.10657G>A AJ222657:g.10657G>A KinMutBase substitution exon 1 KinMutBase_AJ222657:g.10656C>A AJ222657:g.10656C>A KinMutBase substitution exon 1 KinMutBase_AJ222657:g.10655G>C AJ222657:g.10655G>C KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.8867G>A PHKG2_DNA:g.8867G>A KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.9287G>A PHKG2_DNA:g.9287G>A KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.3875delA PHKG2_DNA:g.3875delA KinMutBase deletion exon 1 KinMutBase_PHKG2_DNA:g.6069G>A PHKG2_DNA:g.6069G>A KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.4153delC PHKG2_DNA:g.4153delC KinMutBase deletion exon 1 KinMutBase_PHKG2_DNA:g.3739C>T PHKG2_DNA:g.3739C>T KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.6033C>T PHKG2_DNA:g.6033C>T KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.8995T>G PHKG2_DNA:g.8995T>G KinMutBase substitution exon 1 KinMutBase_INSR_DNA:g.169430C>T INSR_DNA:g.169430C>T KinMutBase substitution exon 1 KinMutBase_JAK3_DNA:g.14140delG JAK3_DNA:g.14140delG KinMutBase deletion exon 1 KinMutBase_RET_DNA:g.44121C>G RET_DNA:g.44121C>G KinMutBase substitution exon 1 KinMutBase_STK11_DNA:g.1198delG STK11_DNA:g.1198delG KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.15396delC STK11_DNA:g.15396delC KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.1197dupT STK11_DNA:g.1197dupT KinMutBase duplication exon 1 KinMutBase_STK11_DNA:g.14720delC STK11_DNA:g.14720delC KinMutBase deletion exon 1 KinMutBase_STK11_DNA:g.14787G>C STK11_DNA:g.14787G>C KinMutBase substitution exon 1 KinMutBase_ACVRL1_DNA:g.4706T>A ACVRL1_DNA:g.4706T>A KinMutBase substitution exon 1 KinMutBase_RPS6KA3_DNA:g.73365delC RPS6KA3_DNA:g.73365delC KinMutBase deletion exon 1 KinMutBase_RPS6KA3_DNA:g.73409delA RPS6KA3_DNA:g.73409delA KinMutBase deletion exon 1 KinMutBase_RPS6KA3_DNA:g.81295T>C RPS6KA3_DNA:g.81295T>C KinMutBase substitution exon 1 KinMutBase_FLT4_DNA:g.31635C>T FLT4_DNA:g.31635C>T KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.8790G>A PHKG2_DNA:g.8790G>A KinMutBase substitution exon 1 KinMutBase_PHKG2_DNA:g.4193T>A PHKG2_DNA:g.4193T>A KinMutBase substitution exon 1 KinMutBase_LTK_DNA:g.10479G>A LTK_DNA:g.10479G>A KinMutBase substitution exon 1 OSTM1base_D0065:g.1106T>A D0065:g.1106T>A OSTM1base substitution exon 1 OSTM1base_D0065:g.11435_11436delAG D0065:g.11435_11436delAG OSTM1base deletion exon 1 OSTM1base_D0065:g.26474G>A D0065:g.26474G>A OSTM1base substitution intron 1 F12base_D0119:g.6346C>A D0119:g.6346C>A F12base substitution exon 1 F12base_D0119:g.6346C>G D0119:g.6346C>G F12base substitution exon 1 CLCN7base_CLCN7_DNA:g.15140dupT CLCN7_DNA:g.15140dupT CLCN7base duplication exon 1 CLCN7base_CLCN7_DNA:g.15536G>A CLCN7_DNA:g.15536G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.16838G>A CLCN7_DNA:g.16838G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.16867C>T CLCN7_DNA:g.16867C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.16873G>A CLCN7_DNA:g.16873G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.18298G>A CLCN7_DNA:g.18298G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.25474C>T CLCN7_DNA:g.25474C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.18682C>T CLCN7_DNA:g.18682C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.19840G>A CLCN7_DNA:g.19840G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.19839C>T CLCN7_DNA:g.19839C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.20774A>G CLCN7_DNA:g.20774A>G CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28974C>T CLCN7_DNA:g.28974C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.21547delA CLCN7_DNA:g.21547delA CLCN7base deletion exon 1 CLCN7base_CLCN7_DNA:g.28443G>A CLCN7_DNA:g.28443G>A CLCN7base substitution intron 1 CLCN7base_CLCN7_DNA:g.25366C>T CLCN7_DNA:g.25366C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.26730C>T CLCN7_DNA:g.26730C>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28960G>A CLCN7_DNA:g.28960G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28305G>A CLCN7_DNA:g.28305G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28314G>T CLCN7_DNA:g.28314G>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28346_28348delCTA CLCN7_DNA:g.28346_28348delCTA CLCN7base deletion exon 1 CLCN7base_CLCN7_DNA:g.28960G>T CLCN7_DNA:g.28960G>T CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28969G>A CLCN7_DNA:g.28969G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28972T>C CLCN7_DNA:g.28972T>C CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.28975G>A CLCN7_DNA:g.28975G>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.29326C>A CLCN7_DNA:g.29326C>A CLCN7base substitution exon 1 CLCN7base_CLCN7_DNA:g.29348_29349delAG CLCN7_DNA:g.29348_29349delAG CLCN7base deletion exon 1 CA2base_CA2_DNA:g.2303C>T CA2_DNA:g.2303C>T CA2base substitution exon 1 CA2base_CA2_DNA:g.2320delC CA2_DNA:g.2320delC CA2base deletion exon 1 CA2base_CA2_DNA:g.2341T>G CA2_DNA:g.2341T>G CA2base substitution exon 1 CA2base_CA2_DNA:g.2363_2366delTCTG CA2_DNA:g.2363_2366delTCTG CA2base deletion exon 1 CA2base_CA2_DNA:g.2366_2369delGTTT CA2_DNA:g.2366_2369delGTTT CA2base deletion exon 1 CA2base_CA2_DNA:g.2378delC CA2_DNA:g.2378delC CA2base deletion exon 1 CA2base_CA2_DNA:g.2412delA CA2_DNA:g.2412delA CA2base deletion exon 1 CA2base_CA2_DNA:g.2454G>A CA2_DNA:g.2454G>A CA2base substitution intron 1 CA2base_CA2_DNA:g.2441_2442delCA CA2_DNA:g.2441_2442delCA CA2base deletion exon 1 CA2base_CA2_DNA:g.10719A>C CA2_DNA:g.10719A>C CA2base substitution exon 1 CA2base_CA2_DNA:g.10724C>T CA2_DNA:g.10724C>T CA2base substitution exon 1 CA2base_CA2_DNA:g.11386G>C CA2_DNA:g.11386G>C CA2base substitution exon 1 CA2base_CA2_DNA:g.10734G>A CA2_DNA:g.10734G>A CA2base substitution exon 1 CA2base_CA2_DNA:g.10763C>T CA2_DNA:g.10763C>T CA2base substitution exon 1 CA2base_CA2_DNA:g.14103G>C CA2_DNA:g.14103G>C CA2base substitution intron 1 CA2base_CA2_DNA:g.12842delA CA2_DNA:g.12842delA CA2base deletion exon 1 CA2base_CA2_DNA:g.14131_14132insGT CA2_DNA:g.14131_14132insGT CA2base insertion exon 1 CA2base_CA2_DNA:g.14217delC CA2_DNA:g.14217delC CA2base deletion exon 1 CA2base_CA2_DNA:g.14216delC CA2_DNA:g.14216delC CA2base deletion exon 1 CA2base_CA2_DNA:g.14226_14237delinsCACA CA2_DNA:g.14226_14237delinsCACA CA2base complex exon 1 CA2base_CA2_DNA:g.17669delA CA2_DNA:g.17669delA CA2base deletion exon 1 CA2base_CA2_DNA:g.17686_17687delGG CA2_DNA:g.17686_17687delGG CA2base deletion exon 1 CA2base_CA2_DNA:g.17743delG CA2_DNA:g.17743delG CA2base deletion exon 1 CA2base_CA2_DNA:g.14260G>T CA2_DNA:g.14260G>T CA2base substitution intron 1 ARdb_2 c.125delC ARdb deletion exon 1 ARdb_3 c.161T>C ARdb substitution exon 1 ARdb_5 c.170T>A ARdb substitution exon 1 ARdb_8 c.178C>T ARdb substitution exon 1 ARdb_9 c.188A>G ARdb substitution exon 1 ARdb_10 c.342G>T ARdb substitution exon 1 ARdb_11 c.387delA ARdb deletion exon 1 ARdb_13 c.521T>G ARdb substitution exon 1 ARdb_14 c.545A>G ARdb substitution exon 1 ARdb_15 c.606_609dupATCC ARdb duplication exon 1 ARdb_16 c.649dupG ARdb duplication exon 1 ARdb_17 c.803T>C ARdb substitution exon 1 ARdb_18 c.811C>T ARdb substitution exon 1 ARdb_19 c.797delA ARdb deletion exon 1 ARdb_20 c.1063G>T ARdb substitution exon 1 ARdb_21 c.1117G>T ARdb substitution exon 1 ARdb_22 c.1175C>G ARdb substitution exon 1 ARdb_24 c.1443C>A ARdb substitution exon 1 ARdb_25 c.1508G>A ARdb substitution exon 1 ARdb_26 c.1586A>G ARdb substitution exon 1 ARdb_27 c.1605C>G ARdb substitution exon 1 ARdb_32 c.1644G>T ARdb substitution exon 1 ARdb_33 c.1645C>T ARdb substitution exon 1 ARdb_34 c.1679G>A ARdb substitution exon 1 ARdb_35 c.1705G>T ARdb substitution exon 1 ARdb_36 c.1706G>T ARdb substitution exon 1 ARdb_38 c.1721C>A ARdb substitution exon 1 ARdb_39 c.1729T>C ARdb substitution exon 1 ARdb_40 c.1730G>T ARdb substitution exon 1 ARdb_41 c.1739G>A ARdb substitution exon 1 ARdb_42 c.1739G>T ARdb substitution exon 1 ARdb_43 c.1740delC ARdb deletion exon 1 ARdb_44 c.1744G>T ARdb substitution exon 1 ARdb_45 c.1750_1752delTTC ARdb deletion exon 1 ARdb_46 c.1748T>A ARdb substitution exon 1 ARdb_47 c.1748T>C ARdb substitution exon 1 ARdb_48 c.1757G>A ARdb substitution exon 1 ARdb_52 c.1771A>T ARdb substitution exon 1 ARdb_53 c.1789G>A ARdb substitution exon 1 ARdb_54 c.1792A>G ARdb substitution exon 1 ARdb_55 c.1805G>T ARdb substitution exon 1 ARdb_56 c.1813G>T ARdb substitution exon 1 ARdb_57 c.1822C>T ARdb substitution exon 1 ARdb_58 c.1823G>A ARdb substitution exon 1 ARdb_61 c.1826G>A ARdb substitution exon 1 ARdb_63 c.1832A>C ARdb substitution exon 1 ARdb_64 c.1846_1848delCGT ARdb deletion exon 1 ARdb_65 c.1847G>A ARdb substitution exon 1 ARdb_70 c.1847G>C ARdb substitution exon 1 ARdb_71 c.1850T>G ARdb substitution exon 1 ARdb_72 c.1850T>C ARdb substitution exon 1 ARdb_74 c.1853G>C ARdb substitution exon 1 ARdb_78 c.2123_2135del ARdb deletion exon 1 ARdb_79 c.1892A>C ARdb substitution exon 1 ARdb_80 c.1937C>A ARdb substitution exon 1 ARdb_81 c.1943G>A ARdb substitution exon 1 ARdb_82 c.1994T>A ARdb substitution exon 1 ARdb_83 c.2012A>G ARdb substitution exon 1 ARdb_84 c.2015C>A ARdb substitution exon 1 ARdb_85 c.2018T>C ARdb substitution exon 1 ARdb_86 c.2033T>C ARdb substitution exon 1 ARdb_87 c.2044G>A ARdb substitution exon 1 ARdb_89 c.2051G>C ARdb substitution exon 1 ARdb_90 c.2053G>A ARdb substitution exon 1 ARdb_91 c.2059T>C ARdb substitution exon 1 ARdb_92 c.2063C>T ARdb substitution exon 1 ARdb_93 c.2066G>A ARdb substitution exon 1 ARdb_94 c.2071_2073delGAC ARdb deletion exon 1 ARdb_95 c.2077_2079delAAC ARdb deletion exon 1 ARdb_96 c.2086G>C ARdb substitution exon 1 ARdb_97 c.2086G>A ARdb substitution exon 1 ARdb_99 c.2105T>A ARdb substitution exon 1 ARdb_100 c.2107T>G ARdb substitution exon 1 ARdb_101 c.2110A>G ARdb substitution exon 1 ARdb_102 c.2117A>G ARdb substitution exon 1 ARdb_105 c.2123T>G ARdb substitution exon 1 ARdb_106 c.2126G>C ARdb substitution exon 1 ARdb_107 c.2126G>T ARdb substitution exon 1 ARdb_108 c.2137C>G ARdb substitution exon 1 ARdb_109 c.2146G>A ARdb substitution exon 1 ARdb_111 c.2157G>A ARdb substitution exon 1 ARdb_112 c.2161A>G ARdb substitution exon 1 ARdb_113 c.2164G>A ARdb substitution exon 1 ARdb_114 c.2169G>T ARdb substitution exon 1 ARdb_118 c.2176T>C ARdb substitution exon 1 ARdb_119 c.2180G>T ARdb substitution exon 1 ARdb_120 c.2184C>G ARdb substitution exon 1 ARdb_121 c.2186T>C ARdb substitution exon 1 ARdb_122 c.2191G>A ARdb substitution exon 1 ARdb_124 c.2197G>A ARdb substitution exon 1 ARdb_125 c.2197G>T ARdb substitution exon 1 ARdb_128 c.2202G>T ARdb substitution exon 1 ARdb_129 c.2213T>C ARdb substitution exon 1 ARdb_130 c.2224T>C ARdb substitution exon 1 ARdb_131 c.2227A>G ARdb substitution exon 1 ARdb_132 c.2229G>A ARdb substitution exon 1 ARdb_133 c.2231G>T ARdb substitution exon 1 ARdb_135 c.2233C>T ARdb substitution exon 1 ARdb_136 c.2237T>C ARdb substitution exon 1 ARdb_137 c.2239G>A ARdb substitution exon 1 ARdb_139 c.2246C>A ARdb substitution exon 1 ARdb_140 c.2248A>G ARdb substitution exon 1 ARdb_142 c.2252G>A ARdb substitution exon 1 ARdb_144 c.2254T>A ARdb substitution exon 1 ARdb_145 c.2257C>T ARdb substitution exon 1 ARdb_147 c.2258G>A ARdb substitution exon 1 ARdb_149 c.2263T>G ARdb substitution exon 1 ARdb_151 c.2265C>A ARdb substitution exon 1 ARdb_153 c.2270A>G ARdb substitution exon 1 ARdb_154 c.2279C>T ARdb substitution exon 1 ARdb_155 c.2287C>T ARdb substitution exon 1 ARdb_157 c.2290T>C ARdb substitution exon 1 ARdb_158 c.2291A>G ARdb substitution exon 1 ARdb_161 c.2293T>C ARdb substitution exon 1 ARdb_162 c.2295C>G ARdb substitution exon 1 ARdb_163 c.2296G>A ARdb substitution exon 1 ARdb_167 c.2297C>T ARdb substitution exon 1 ARdb_168 c.2299C>T ARdb substitution exon 1 ARdb_169 c.2301delT ARdb deletion exon 1 ARdb_170 c.2304T>G ARdb substitution exon 1 ARdb_171 c.2314A>C ARdb substitution exon 1 ARdb_172 c.2317G>T ARdb substitution exon 1 ARdb_173 c.2318A>G ARdb substitution exon 1 ARdb_174 c.2318A>C ARdb substitution exon 1 ARdb_175 c.2323C>T ARdb substitution exon 1 ARdb_181 c.2324G>A ARdb substitution exon 1 ARdb_186 c.2338C>T ARdb substitution exon 1 ARdb_189 c.2343G>A ARdb substitution exon 1 ARdb_194 c.2348G>A ARdb substitution exon 1 ARdb_195 c.2359C>T ARdb substitution exon 1 ARdb_196 c.2362A>G ARdb substitution exon 1 ARdb_197 c.2371C>T ARdb substitution exon 1 ARdb_198 c.2382G>C ARdb substitution exon 1 ARdb_199 c.2384T>C ARdb substitution exon 1 ARdb_201 c.2391G>A ARdb substitution exon 1 ARdb_202 c.2395C>G ARdb substitution exon 1 ARdb_206 c.2420G>A ARdb substitution exon 1 ARdb_207 c.2422A>G ARdb substitution exon 1 ARdb_208 c.2423T>G ARdb substitution exon 1 ARdb_209 c.2444G>A ARdb substitution exon 1 ARdb_211 c.2462G>C ARdb substitution exon 1 ARdb_212 c.2464C>G ARdb substitution exon 1 ARdb_219 c.2504A>G ARdb substitution exon 1 ARdb_220 c.2521C>T ARdb substitution exon 1 ARdb_223 c.2522G>A ARdb substitution exon 1 ARdb_233 c.2525T>G ARdb substitution exon 1 ARdb_234 c.2528T>C ARdb substitution exon 1 ARdb_236 c.2546_2547insA ARdb insertion exon 1 ARdb_237 c.2561C>G ARdb substitution exon 1 ARdb_239 c.2564G>A ARdb substitution exon 1 ARdb_240 c.2566C>T ARdb substitution exon 1 ARdb_249 c.2567G>A ARdb substitution exon 1 ARdb_256 c.2591T>G ARdb substitution exon 1 ARdb_257 c.2593G>A ARdb substitution exon 1 ARdb_258 c.2594A>G ARdb substitution exon 1 ARdb_259 c.2599G>T ARdb substitution exon 1 ARdb_263 c.2599G>A ARdb substitution exon 1 ARdb_268 c.2600T>A ARdb substitution exon 1 ARdb_269 c.2610T>G ARdb substitution exon 1 ARdb_270 c.2612C>T ARdb substitution exon 1 ARdb_271 c.2612C>G ARdb substitution exon 1 ARdb_272 c.2614A>G ARdb substitution exon 1 ARdb_273 c.2623C>T ARdb substitution exon 1 ARdb_275 c.2632A>G ARdb substitution exon 1 ARdb_280 c.2633C>G ARdb substitution exon 1 ARdb_281 c.2644C>G ARdb substitution exon 1 ARdb_282 c.2650A>T ARdb substitution exon 1 ARdb_283 c.2659A>G ARdb substitution exon 1 ARdb_284 c.2668G>A ARdb substitution exon 1 ARdb_286 c.2696T>C ARdb substitution exon 1 ARdb_287 c.2708A>G ARdb substitution exon 1 ARdb_288 c.2710G>A ARdb substitution exon 1 ARdb_289 c.2713C>T ARdb substitution exon 1 ARdb_290 c.2714C>A ARdb substitution exon 1 ARdb_291 c.2722C>T ARdb substitution exon 1 ARdb_292 c.2728G>A ARdb substitution exon 1 ARdb_293 c.2740C>T ARdb substitution exon 1 ARdb_294 c.1616+2_1616+3insT ARdb insertion intron 1 ARdb_295 c.1885+1G>A ARdb substitution intron 1 ARdb_296 c.2173+1G>T ARdb substitution intron 1 ARdb_298 c.2607+1G>A ARdb substitution intron 1 ARdb_299 c.1769-11T>A ARdb substitution intron 1 ARdb_300 c.2273T>C ARdb substitution exon 1 ARdb_304 c.1768+1G>A ARdb substitution intron 1 ARdb_306 c.1889G>A ARdb substitution exon 1 ARdb_319 c.587A>G ARdb substitution exon 1 ARdb_327 c.2732A>G ARdb substitution exon 1 ARdb_328 c.639G>A ARdb substitution exon 1 ARdb_335 c.2087A>T ARdb substitution exon 1 ARdb_338 c.1174C>T ARdb substitution exon 1 ARdb_339 c.1536G>A ARdb substitution exon 1 ARdb_346 c.2276A>C ARdb substitution exon 1 ARdb_350 c.788T>C ARdb substitution exon 1 ARdb_357 c.1644delG ARdb deletion exon 1 ARdb_358 c.1665delA ARdb deletion exon 1 ARdb_360 c.2225G>A ARdb substitution exon 1 ARdb_361 c.2232delG ARdb deletion exon 1 ARdb_362 c.1807A>C ARdb substitution exon 1 ARdb_363 c.2246C>T ARdb substitution exon 1 ARdb_364 c.2250G>A ARdb substitution exon 1 ARdb_365 c.2251G>A ARdb substitution exon 1 ARdb_366 c.2255G>A ARdb substitution exon 1 ARdb_368 c.2256G>A ARdb substitution exon 1 ARdb_369 c.2263T>C ARdb substitution exon 1 ARdb_370 c.2266A>G ARdb substitution exon 1 ARdb_371 c.2278T>C ARdb substitution exon 1 ARdb_374 c.2729G>A ARdb substitution exon 1 ARdb_375 c.2678C>T ARdb substitution exon 1 ARdb_376 c.636G>A ARdb substitution exon 1 ARdb_379 c.646G>A ARdb substitution exon 1 ARdb_383 c.2354G>A ARdb substitution exon 1 ARdb_385 c.2521C>G ARdb substitution exon 1 ARdb_386 c.2687T>C ARdb substitution exon 1 ARdb_389 c.2677C>T ARdb substitution exon 1 ARdb_390 c.1793G>C ARdb substitution exon 1 ARdb_392 c.2517C>T ARdb substitution exon 1 ARdb_395 c.621C>G ARdb substitution exon 1 ARdb_398 c.1025C>T ARdb substitution exon 1 ARdb_400 c.1921C>T ARdb substitution exon 1 ARdb_403 c.2437C>T ARdb substitution exon 1 ARdb_406 c.2367G>T ARdb substitution exon 1 ARdb_409 c.179dupA ARdb duplication exon 1 ARdb_410 c.1421_1422delAG ARdb deletion exon 1 ARdb_415 c.2521C>A ARdb substitution exon 1 ARdb_416 c.257_258insA ARdb insertion exon 1 ARdb_417 c.312delC ARdb deletion exon 1 ARdb_417_2 c.381delC ARdb deletion exon 1 ARdb_418 c.343C>T ARdb substitution exon 1 ARdb_428 c.2423T>C ARdb substitution exon 1 ARdb_430 c.2734G>C ARdb substitution exon 1 ARdb_431 c.1859G>A ARdb substitution exon 1 ARdb_433 c.2671G>A ARdb substitution exon 1 ARdb_438 c.1389delC ARdb deletion exon 1 ARdb_440 c.1474G>A ARdb substitution exon 1 ARdb_446 c.2065G>T ARdb substitution exon 1 ARdb_447 c.2101T>A ARdb substitution exon 1 ARdb_450 c.2132G>C ARdb substitution exon 1 ARdb_451 c.2170C>T ARdb substitution exon 1 ARdb_452 c.2173G>A ARdb substitution exon 1 ARdb_453 c.2174_2175delinsAT ARdb complex exon 1 ARdb_460 c.2306T>C ARdb substitution exon 1 ARdb_470 c.2571C>G ARdb substitution exon 1 ARdb_483 c.2248A>G) ARdb substitution exon 1 ARdb_486 c.2596T>C ARdb substitution exon 1 ARdb_487 c.1742A>G ARdb substitution exon 1 ARdb_488 c.1760C>T ARdb substitution exon 1 ARdb_489 c.1726A>G ARdb substitution exon 1 ARdb_490 c.1762G>T ARdb substitution exon 1 ARdb_492 c.2245G>A ARdb substitution exon 1 ARdb_494 c.2539A>G ARdb substitution exon 1 ARdb_496 c.1835G>A ARdb substitution exon 1 ARdb_498 c.2410G>A ARdb substitution exon 1 ARdb_501 c.2459A>G ARdb substitution exon 1 ARdb_502 c.2607+1G>T ARdb substitution intron 1 ARdb_503 c.2449+5G>T ARdb substitution intron 1 ARdb_512 c.1846C>G ARdb substitution exon 1 ARdb_513 c.2473C>A ARdb substitution exon 1 ARdb_516 c.460G>T ARdb substitution exon 1 ARdb_517 c.1972C>T ARdb substitution exon 1 ARdb_518 c.2104C>A ARdb substitution exon 1 ARdb_519 c.2230G>C ARdb substitution exon 1 ARdb_520 c.2296G>T ARdb substitution exon 1 ARdb_521 c.2408A>G ARdb substitution exon 1 ARdb_525 c.2134C>G ARdb substitution exon 1 ARdb_530 c.2218T>G ARdb substitution exon 1 ARdb_533 c.2667C>T ARdb substitution exon 1 ARdb_534 c.2047C>A ARdb substitution exon 1 ARdb_536 c.2231G>A ARdb substitution exon 1 ARdb_537 c.2482T>G ARdb substitution exon 1 ARdb_538 c.2624A>G ARdb substitution exon 1 ARdb_539 c.2638G>T ARdb substitution exon 1 ARdb_541 c.2449+5G>C ARdb substitution intron 1 ARdb_542 c.2403delC ARdb deletion exon 1 ARdb_543 c.2299C>G ARdb substitution exon 1 ARdb_544 c.2305C>A ARdb substitution exon 1 ARdb_545 c.1714T>C ARdb substitution exon 1 ARdb_547 c.1175C>T ARdb substitution exon 1 ARdb_548 c.670A>G ARdb substitution exon 1 ARdb_549 c.612A>G ARdb substitution exon 1 ARdb_550 c.1006T>C ARdb substitution exon 1 ARdb_551 c.599A>G ARdb substitution exon 1 ARdb_552 c.2226G>T ARdb substitution exon 1 ARdb_553 c.2639A>C ARdb substitution exon 1 ARdb_554 c.1732G>A ARdb substitution exon 1 ARdb_555 c.1960G>A ARdb substitution exon 1 ARdb_556 c.894C>A ARdb substitution exon 1 ARdb_559 c.2116A>T ARdb substitution exon 1 ARdb_563 c.2413T>C ARdb substitution exon 1 ARdb_566 c.534C>T ARdb substitution exon 1 ARdb_567 c.1543C>T ARdb substitution exon 1 ARdb_569 c.1574G>A ARdb substitution exon 1 ARdb_570 c.1600C>T ARdb substitution exon 1 ARdb_572 c.2232G>C ARdb substitution exon 1 ARdb_573 c.2272G>A ARdb substitution exon 1 ARdb_575 c.2069A>C ARdb substitution exon 1 ARdb_576 c.1950C>T ARdb substitution exon 1 ARdb_577 c.2130G>A ARdb substitution exon 1 ARdb_578 c.2136G>A ARdb substitution exon 1 ARdb_581 c.2117A>T ARdb substitution exon 1 ARdb_583 c.2164delG ARdb deletion exon 1 ARdb_584 c.2166delC ARdb deletion exon 1 ARdb_587 c.2300delC ARdb deletion exon 1 ARdb_591 c.2528T>A ARdb substitution exon 1 ARdb_593 c.2667_2668delinsAG ARdb complex exon 1 ARdb_594 c.1886-1G>T ARdb substitution intron 1 ARdb_595 c.2225G>T ARdb substitution exon 1 ARdb_596 c.2402C>T ARdb substitution exon 1 ARdb_602 c.2269A>G ARdb substitution exon 1 ARdb_606 c.865G>T ARdb substitution exon 1 ARdb_609 c.1794C>A ARdb substitution exon 1 ARdb_612 c.173A>T ARdb substitution exon 1 ARdb_616 c.2222C>G ARdb substitution exon 1 ARdb_618 c.2044G>T ARdb substitution exon 1 ARdb_620 c.2174G>C ARdb substitution exon 1 ARdb_622 c.2478_2479insCA ARdb insertion exon 1 ARdb_623 c.2654C>G ARdb substitution exon 1 ARdb_624 c.115_117del C ARdb deletion exon 1 ARdb_627 c.502G>A ARdb substitution exon 1 ARdb_628 c.2199C>T ARdb substitution exon 1 ARdb_631 c.362C>A ARdb substitution exon 1 ARdb_635 c.2226G>C ARdb substitution exon 1 ARdb_637 c.2305C>G ARdb substitution exon 1 ARdb_642 c.2695A>T ARdb substitution exon 1 ARdb_646 c.2714C>G ARdb substitution exon 1 ARdb_648 c.2395C>T ARdb substitution exon 1 ARdb_649 c.2707C>A ARdb substitution exon 1 ARdb_650 c.675C>G ARdb substitution exon 1 ARdb_666 c.2312_2313delinsAA ARdb complex exon 1 ARdb_667 c.2356_2357delGT ARdb deletion exon 1 ARdb_672 c.268C>T ARdb substitution exon 1 ARdb_685 c.2452C>G ARdb substitution exon 1 ARdb_689 c.1231_1239del ARdb deletion exon 1 ARdb_690 c.1238G>A ARdb substitution exon 1 ARdb_691 c.1301C>T ARdb substitution exon 1 ARdb_694 c.431G>T ARdb substitution exon 1 ARdb_695 c.667G>C ARdb substitution exon 1 ARdb_696 c.2617G>C ARdb substitution exon 1 ARdb_697 c.2661G>A ARdb substitution exon 1 ARdb_706 c.697_698delTCinsCT ARdb complex exon 1 ARdb_711 c.1888C>T ARdb substitution exon 1 ARdb_719 c.1744G>C ARdb substitution exon 1 ARdb_720 c.1799delA ARdb deletion exon 1 ARdb_721 c.1831_1832insA ARdb insertion exon 1 ARdb_723 c.2042T>C ARdb substitution exon 1 ARdb_724 c.2047C>G ARdb substitution exon 1 ARdb_725 c.2101_2114del ARdb deletion exon 1 ARdb_726 c.2212A>T ARdb substitution exon 1 ARdb_729 c.2285T>C ARdb substitution exon 1 ARdb_735 c.2365_2367dupAGG ARdb duplication exon 1 ARdb_736 c.2531C>A ARdb substitution exon 1 ARdb_751 c.19del C ARdb deletion exon 1 ARdb_752 c.2200C>T ARdb substitution exon 1 ARdb_753 c.2578C>T ARdb substitution exon 1 ARdb_754 c.4G>A ARdb substitution exon 1 ARdb_755 c.2238G>C ARdb substitution exon 1 ARdb_759 c.1352G>A ARdb substitution exon 1 ARdb_760 c.1358G>A ARdb substitution exon 1 ARdb_763 c.2244delT ARdb deletion exon 1 ARdb_764 c.2399T>C ARdb substitution exon 1 ARdb_766 c.2686A>G ARdb substitution exon 1 ARdb_780 c.814C>T ARdb substitution exon 1 ARdb_781 c.1063G>C ARdb substitution exon 1 ARdb_782 c.1424C>T ARdb substitution exon 1 ARdb_784 c.1951A>G ARdb substitution exon 1 ARdb_785 c.2242T>A ARdb substitution exon 1 ARdb_787 c.217C>T ARdb substitution exon 1 ARdb_788 c.475G>A ARdb substitution exon 1 ARdb_789 c.743G>T ARdb substitution exon 1 ARdb_790 c.1185C>G ARdb substitution exon 1 ARdb_791 c.2171C>T ARdb substitution exon 1 ARdb_792 c.2155T>C ARdb substitution exon 1 ARdb_793 c.2562_2563delAA ARdb deletion exon 1 ARdb_794 c.2613delG ARdb deletion exon 1 ARdb_795 c.2683_2685delATG ARdb deletion exon 1 ARdb_796 c.262C>T ARdb substitution exon 1 ARdb_797 c.1688G>A ARdb substitution exon 1 ARdb_798 c.2174G>T ARdb substitution exon 1 ARdb_799 c.2438T>C ARdb substitution exon 1 ARdb_800 c.1769-1G>A ARdb substitution intron 1 ARdb_802 c.358C>T ARdb substitution exon 1 ARdb_804 c.1443C>T ARdb substitution exon 1 ARdb_805 c.302G>A ARdb substitution exon 1 ARdb_806 c.270G>T ARdb substitution exon 1 ARdb_807 c.240A>G ARdb substitution exon 1 ARdb_809 c.1768_1769ins69 ARdb insertion intron 1 ARdb_811 c.2453C>T ARdb substitution exon 1 ARdb_815 c.169_171delCTG ARdb deletion exon 1 ARdb_816 c.895G>A ARdb substitution exon 1 ARdb_819 c.2128G>A ARdb substitution exon 1 ARdb_828 c.2135delA ARdb deletion exon 1 ARdb_829 c.2645T>C ARdb substitution exon 1 ARdb_835 c.1886-60G>A ARdb substitution intron 1 ARdb_836 c.118delA ARdb deletion exon 1 ARdb_837 c.427A>T ARdb substitution exon 1 ARdb_838 c.502delG ARdb deletion exon 1 ARdb_840 c.1686_1688dupCTG ARdb duplication exon 1 ARdb_842 c.2372T>C ARdb substitution exon 1 ARdb_845 c.793dupG ARdb duplication exon 1 ARdb_846 c.196C>T ARdb substitution exon 1 ARdb_849 c.2080C>T ARdb substitution exon 1 ARdb_851 c.2602C>T ARdb substitution exon 1 ARdb_865 c.2413T>A ARdb substitution exon 1 ARdb_867 c.2578C>A ARdb substitution exon 1 ARdb_875 c.2481C>A ARdb substitution exon 1 ARdb_876 c.1542T>A ARdb substitution exon 1 ARdb_877 c.1760C>A ARdb substitution exon 1 ARdb_880 c.2264T>C ARdb substitution exon 1 ARdb_881 c.209A>G ARdb substitution exon 1 ARdb_883 c.763G>A ARdb substitution exon 1 ARdb_884 c.1370G>A ARdb substitution exon 1 ARdb_885 c.685_686delACinsTG ARdb complex exon 1 ARdb_886 c.1525G>C ARdb substitution exon 1 ARdb_887 c.1783C>A ARdb substitution exon 1 ARdb_888 c.1366G>A ARdb substitution exon 1 ARdb_889 c.1304G>T ARdb substitution exon 1 ARdb_890 c.1319C>T ARdb substitution exon 1 ARdb_891 c.1493C>T ARdb substitution exon 1 ARdb_893 c.2302G>T ARdb substitution exon 1 ARdb_894 c.208C>T ARdb substitution exon 1 ARdb_895 c.226C>T ARdb substitution exon 1 ARdb_897 c.163_164insC ARdb insertion exon 1 ARdb_898 c.325_326insA ARdb insertion exon 1 ARdb_899 c.1129_1139dup ARdb insertion exon 1 ARdb_900 c.1592_1593insGCTA ARdb insertion exon 1 ARdb_901 c.244_248delACTAG ARdb deletion exon 1 ARdb_902 c.227delA ARdb deletion exon 1 ARdb_903 c.1035_1036delinsAG ARdb complex exon 1 ARdb_903_2 c.1041_1042delCT ARdb deletion exon 1 ARdb_905 c.1507_1512delins ARdb complex exon 1 ARdb_906 c.1616+5G>C ARdb substitution intron 1 ARdb_907 c.2388A>G ARdb substitution exon 1 ARdb_910 c.128A>G ARdb substitution exon 1 ARdb_911 c.363G>C ARdb substitution exon 1 ARdb_912 c.580C>T ARdb substitution exon 1 ARdb_913 c.581T>G ARdb substitution exon 1 ARdb_917 c.685A>G ARdb substitution exon 1 ARdb_918 c.758C>T ARdb substitution exon 1 ARdb_919 c.1072G>A ARdb substitution exon 1 ARdb_920 c.1073C>T ARdb substitution exon 1 ARdb_921 c.1085G>A ARdb substitution exon 1 ARdb_922 c.1246G>A ARdb substitution exon 1 ARdb_923 c.1247G>A ARdb substitution exon 1 ARdb_925 c.1305G>C ARdb substitution exon 1 ARdb_926 c.1318A>C ARdb substitution exon 1 ARdb_932 c.1495G>A ARdb substitution exon 1 ARdb_933 c.1496C>T ARdb substitution exon 1 ARdb_935 c.1526T>G ARdb substitution exon 1 ARdb_941 c.2573dupA ARdb duplication exon 1 ARdb_942 c.1811T>A ARdb substitution exon 1 ARdb_943 c.2014C>T ARdb substitution exon 1 ARdb_944 c.2216A>G ARdb substitution exon 1 ARdb_946 c.1805G>C ARdb substitution exon 1 ARdb_947 c.2046G>T ARdb substitution exon 1 ARdb_952 c.1675A>T ARdb substitution exon 1 ARdb_958 c.2741C>G ARdb substitution exon 1 ARdb_962 c.240_241insA ARdb insertion exon 1 ARdb_963 c.39_42dupGCCG ARdb duplication exon 1 ARdb_964 c.256C>T ARdb substitution exon 1 ARdb_966 c.663delC ARdb deletion exon 1 ARdb_967 c.720_721insT ARdb insertion exon 1 ARdb_969 c.1363G>A ARdb substitution exon 1 ARdb_971 c.1706G>A ARdb substitution exon 1 ARdb_972 c.1720G>C ARdb substitution exon 1 ARdb_973 c.1740C>G ARdb substitution exon 1 ARdb_974 c.1752C>G ARdb substitution exon 1 ARdb_975 c.1782C>A ARdb substitution exon 1 ARdb_976 c.1858T>C ARdb substitution exon 1 ARdb_977 c.2086G>T ARdb substitution exon 1 ARdb_979 c.2110A>T ARdb substitution exon 1 ARdb_985 c.2243T>G ARdb substitution exon 1 ARdb_988 c.2344T>G ARdb substitution exon 1 ARdb_990 c.2364G>A ARdb substitution exon 1 ARdb_992 c.2364G>T ARdb substitution exon 1 ARdb_993 c.2378_2379delAA ARdb deletion exon 1 ARdb_996 c.2500_2502delAAC ARdb deletion exon 1 ARdb_997 c.2515C>G ARdb substitution exon 1 ARdb_1001 c.2710G>T ARdb substitution exon 1 ARdb_1002 c.2715delC ARdb deletion exon 1 ARdb_1003 c.1138C>G ARdb substitution exon 1 ARdb_1005 c.2042T>A ARdb substitution exon 1 ARdb_1007 c.2236A>C ARdb substitution exon 1 ARdb_1016 c.1769-2A>C ARdb substitution intron 1 ARdb_1017 c.1769-3C>G ARdb substitution intron 1 ARdb_1018 c.2450-44G>A ARdb substitution intron 1 ARdb_1020 c.1948A>G ARdb substitution exon 1 ARdb_1021 c.1972C>A ARdb substitution exon 1 ARdb_1022 c.1885+9C>A ARdb substitution intron 1 ARdb_1023 c.2126G>A ARdb substitution exon 1 ARdb_1024 c.1324G>T ARdb substitution exon 1 ARdb_1025 c.1846C>A ARdb substitution exon 1 ARdb_1026 c.2633C>T ARdb substitution exon 1 ARdb_1028 c.1910delA ARdb deletion exon 1 ARdb_1029 c.2449+3A>T ARdb substitution intron 1 PAH_c.1A>G PAH c.1A>G PAHdb substitution exon 1 PAH_c.3G>A PAH c.3G>A PAHdb substitution exon 1 PAH_c.1-?_168+?del PAH c.1-?_168+?del PAHdb deletion not within known transcription unit 0 PAH_c.60+5G>T PAH c.60+5G>T PAHdb substitution intron 1 PAH_c.117C>G PAH c.117C>G PAHdb substitution exon 1 PAH_c.115_117delTTC PAH c.115_117delTTC PAHdb deletion exon 1 PAH_c.143T>C PAH c.143T>C PAHdb substitution exon 1 PAH_c.165delT PAH c.165delT PAHdb deletion exon 1 PAH_c.121C>T PAH c.121C>T PAHdb substitution exon 1 PAH_c.136G>A PAH c.136G>A PAHdb substitution exon 1 PAH_c.168G>T PAH c.168G>T PAHdb substitution exon 1 PAH_[c.187A>C;c.190C>A] [c.187A>C;c.190C>A] PAHdb substitution exon 1 PAH_[c.168G>A;c.168+1G>A] [c.168G>A;c.168+1G>A] PAHdb substitution exon 1 PAH_c.168+5G>T PAH c.168+5G>T PAHdb substitution intron 1 PAH_c.168+19T>C PAH c.168+19T>C PAHdb substitution intron 1 PAH_c.194T>C PAH c.194T>C PAHdb substitution exon 1 PAH_c.199T>C PAH c.199T>C PAHdb substitution exon 1 PAH_c.204A>T PAH c.204A>T PAHdb substitution exon 1 PAH_c.250G>T PAH c.250G>T PAHdb substitution exon 1 PAH_c.275C>T PAH c.275C>T PAHdb substitution exon 1 PAH_c.283_285delATC PAH c.283_285delATC PAHdb deletion exon 1 PAH_c.311C>A PAH c.311C>A PAHdb substitution exon 1 PAH_c.331C>T PAH c.331C>T PAHdb substitution exon 1 PAH_c.169-?_352+?del PAH c.169-?_352+?del PAHdb deletion exon 0 PAH_c.371C>T PAH c.371C>T PAHdb substitution exon 1 PAH_c.428A>G PAH c.428A>G PAHdb substitution exon 1 PAH_c.442-1G>A PAH c.442-1G>A PAHdb substitution intron 1 PAH_c.442-5C>G PAH c.442-5C>G PAHdb substitution intron 1 PAH_c.442G>A PAH c.442G>A PAHdb substitution exon 1 PAH_c.473G>A PAH c.473G>A PAHdb substitution exon 1 PAH_c.472C>T PAH c.472C>T PAHdb substitution exon 1 PAH_c.482T>C PAH c.482T>C PAHdb substitution exon 1 PAH_c.509A>G PAH c.509A>G PAHdb substitution exon 1 PAH_c.509+1delG PAH c.509+1delG PAHdb deletion intron 1 PAH_c.517C>A PAH c.517C>A PAHdb substitution exon 1 PAH_c.521T>C PAH c.521T>C PAHdb substitution exon 1 PAH_c.526C>T PAH c.526C>T PAHdb substitution exon 1 PAH_c.561G>A PAH c.561G>A PAHdb substitution exon 1 PAH_c.569T>C PAH c.569T>C PAHdb substitution exon 1 PAH_c.593_614del22 PAH c.593_614del22 PAHdb deletion exon 1 PAH_c.611A>G PAH c.611A>G PAHdb substitution exon 1 PAH_c.612T>G PAH c.612T>G PAHdb substitution exon 1 PAH_c.632delC PAH c.632delC PAHdb deletion exon 1 PAH_c.631C>A PAH c.631C>A PAHdb substitution exon 1 PAH_c.653G>T PAH c.653G>T PAHdb substitution exon 1 PAH_c.662A>G PAH c.662A>G PAHdb substitution exon 1 PAH_c.663_664delAG PAH c.663_664delAG PAHdb deletion exon 1 PAH_c.672T>G PAH c.672T>G PAHdb substitution exon 1 PAH_c.696A>G PAH c.696A>G PAHdb substitution exon 1 PAH_c.707-2A>G PAH c.707-2A>G PAHdb substitution intron 1 PAH_c.712A>C PAH c.712A>C PAHdb substitution exon 1 PAH_c.722G>A PAH c.722G>A PAHdb substitution exon 1 PAH_c.721C>T PAH c.721C>T PAHdb substitution exon 1 PAH_c.724C>T PAH c.724C>T PAHdb substitution exon 1 PAH_c.728G>A PAH c.728G>A PAHdb substitution exon 1 PAH_c.727C>T PAH c.727C>T PAHdb substitution exon 1 PAH_c.731C>T PAH c.731C>T PAHdb substitution exon 1 PAH_c.735G>A PAH c.735G>A PAHdb substitution exon 1 PAH_c.734T>A PAH c.734T>A PAHdb substitution exon 1 PAH_c.740G>T PAH c.740G>T PAHdb substitution exon 1 PAH_c.745C>T PAH c.745C>T PAHdb substitution exon 1 PAH_c.754C>T PAH c.754C>T PAHdb substitution exon 1 PAH_c.754C>G PAH c.754C>G PAHdb substitution exon 1 PAH_c.764T>C PAH c.764T>C PAHdb substitution exon 1 PAH_c.763T>G PAH c.763T>G PAHdb substitution exon 1 PAH_c.776C>T PAH c.776C>T PAHdb substitution exon 1 PAH_c.775G>A PAH c.775G>A PAHdb substitution exon 1 PAH_c.782G>A PAH c.782G>A PAHdb substitution exon 1 PAH_c.781C>T PAH c.781C>T PAHdb substitution exon 1 PAH_c.791A>T PAH c.791A>T PAHdb substitution exon 1 PAH_c.809G>A PAH c.809G>A PAHdb substitution exon 1 PAH_c.810A>T PAH c.810A>T PAHdb substitution exon 1 PAH_c.814G>T PAH c.814G>T PAHdb substitution exon 1 PAH_c.818C>T PAH c.818C>T PAHdb substitution exon 1 PAH_c.828G>T PAH c.828G>T PAHdb substitution exon 1 PAH_c.829T>G PAH c.829T>G PAHdb substitution exon 1 PAH_c.822_832del11 PAH c.822_832del11 PAHdb deletion exon 1 PAH_c.833C>A PAH c.833C>A PAHdb substitution exon 1 PAH_c.838G>A PAH c.838G>A PAHdb substitution exon 1 PAH_c.842C>T PAH c.842C>T PAHdb substitution exon 1 PAH_c.842+1G>A PAH c.842+1G>A PAHdb substitution intron 1 PAH_c.842+2T>A PAH c.842+2T>A PAHdb substitution intron 1 PAH_c.844G>A PAH c.844G>A PAHdb substitution exon 1 PAH_c.896T>G PAH c.896T>G PAHdb substitution exon 1 PAH_c.898G>T PAH c.898G>T PAHdb substitution exon 1 PAH_c.912G>A PAH c.912G>A PAHdb substitution exon 1 PAH_c.912+1G>A PAH c.912+1G>A PAHdb substitution intron 1 PAH_c.916A>G PAH c.916A>G PAHdb substitution exon 1 PAH_c.926C>T PAH c.926C>T PAHdb substitution exon 1 PAH_c.932T>C PAH c.932T>C PAHdb substitution exon 1 PAH_c.964G>A PAH c.964G>A PAHdb substitution exon 1 PAH_c.965C>G PAH c.965C>G PAHdb substitution exon 1 PAH_c.977G>A PAH c.977G>A PAHdb substitution exon 1 PAH_c.997C>T PAH c.997C>T PAHdb substitution exon 1 PAH_c.1006C>T PAH c.1006C>T PAHdb substitution exon 1 PAH_c.1024G>A PAH c.1024G>A PAHdb substitution exon 1 PAH_c.1028A>G PAH c.1028A>G PAHdb substitution exon 1 PAH_c.1033G>A PAH c.1033G>A PAHdb substitution exon 1 PAH_c.1038delG PAH c.1038delG PAHdb deletion exon 1 PAH_c.1042C>G PAH c.1042C>G PAHdb substitution exon 1 PAH_c.1045T>C PAH c.1045T>C PAHdb substitution exon 1 PAH_c.1055delG PAH c.1055delG PAHdb deletion exon 1 PAH_c.1066-11G>A PAH c.1066-11G>A PAHdb substitution intron 1 PAH_c.1068C>A PAH c.1068C>A PAHdb substitution exon 1 PAH_c.1068C>G PAH c.1068C>G PAHdb substitution exon 1 PAH_c.1076C>G PAH c.1076C>G PAHdb substitution exon 1 PAH_c.1090_1092delCTT PAH c.1090_1092delCTT PAHdb deletion exon 1 PAH_c.1090_1104del15 PAH c.1090_1104del15 PAHdb deletion exon 1 PAH_c.1097C>A PAH c.1097C>A PAHdb substitution exon 1 PAH_c.1117_1118delGC PAH c.1117_1118delGC PAHdb deletion exon 1 PAH_c.1139C>T PAH c.1139C>T PAHdb substitution exon 1 PAH_c.1155G>C PAH c.1155G>C PAHdb substitution exon 1 PAH_c.1162G>A PAH c.1162G>A PAHdb substitution exon 1 PAH_c.1169A>G PAH c.1169A>G PAHdb substitution exon 1 PAH_c.1181A>C PAH c.1181A>C PAHdb substitution exon 1 PAH_c.1183G>C PAH c.1183G>C PAHdb substitution exon 1 PAH_c.1197A>T PAH c.1197A>T PAHdb substitution exon 1 PAH_c.1208C>T PAH c.1208C>T PAHdb substitution exon 1 PAH_c.1220delC PAH c.1220delC PAHdb deletion exon 1 PAH_c.1222C>T PAH c.1222C>T PAHdb substitution exon 1 PAH_c.1223G>A PAH c.1223G>A PAHdb substitution exon 1 PAH_c.1238G>C PAH c.1238G>C PAHdb substitution exon 1 PAH_c.1241A>G PAH c.1241A>G PAHdb substitution exon 1 PAH_c.1243G>A PAH c.1243G>A PAHdb substitution exon 1 PAH_c.1252A>C PAH c.1252A>C PAHdb substitution exon 1 PAH_c.1315+1G>A PAH c.1315+1G>A PAHdb substitution intron 1 PAH_c.1340C>A PAH c.1340C>A PAHdb substitution exon 1 PAH_c.58C>T PAH c.58C>T PAHdb substitution exon 1 PAH_c.119C>T PAH c.119C>T PAHdb substitution exon 1 PAH_c.359G>A PAH c.359G>A PAHdb substitution exon 1 PAH_c.460T>A PAH c.460T>A PAHdb substitution exon 1 PAH_c.514C>T PAH c.514C>T PAHdb substitution exon 1 PAH_c.638T>C PAH c.638T>C PAHdb substitution exon 1 PAH_c.673C>A PAH c.673C>A PAHdb substitution exon 1 PAH_c.755G>A PAH c.755G>A PAHdb substitution exon 1 PAH_c.769G>T PAH c.769G>T PAHdb substitution exon 1 PAH_c.782G>C PAH c.782G>C PAHdb substitution exon 1 PAH_c.890G>A PAH c.890G>A PAHdb substitution exon 1 PAH_c.941C>A PAH c.941C>A PAHdb substitution exon 1 PAH_c.1157A>G PAH c.1157A>G PAHdb substitution exon 1 PAH_c.1162G>C PAH c.1162G>C PAHdb substitution exon 1 PAH_c.1180G>C PAH c.1180G>C PAHdb substitution exon 1 PAH_c.1184C>G PAH c.1184C>G PAHdb substitution exon 1 PAH_c.1198delA PAH c.1198delA PAHdb deletion exon 1 PAH_c.1089delG PAH c.1089delG PAHdb deletion exon 1 PAH_c.1129delT PAH c.1129delT PAHdb deletion exon 1 PAH_c.168+6T>G PAH c.168+6T>G PAHdb substitution intron 1 PAH_c.509+1G>A PAH c.509+1G>A PAHdb substitution intron 1 PAH_c.842+5G>A PAH c.842+5G>A PAHdb substitution intron 1 PAH_c.1065+1G>A PAH c.1065+1G>A PAHdb substitution intron 1 PAH_c.1199+1G>A PAH c.1199+1G>A PAHdb substitution intron 1 PAH_c.1242C>T PAH c.1242C>T PAHdb substitution exon 1 PAH_c.581T>C PAH c.581T>C PAHdb substitution exon 1 PAH_c.734T>C PAH c.734T>C PAHdb substitution exon 1 PAH_c.826A>G PAH c.826A>G PAHdb substitution exon 1 PAH_c.926C>A PAH c.926C>A PAHdb substitution exon 1 PAH_c.1012G>T PAH c.1012G>T PAHdb substitution exon 1 PAH_c.140C>T PAH c.140C>T PAHdb substitution exon 1 PAH_c.261C>A PAH c.261C>A PAHdb substitution exon 1 PAH_c.527G>T PAH c.527G>T PAHdb substitution exon 1 PAH_c.533A>G PAH c.533A>G PAHdb substitution exon 1 PAH_c.688G>A PAH c.688G>A PAHdb substitution exon 1 PAH_c.1065+3A>G PAH c.1065+3A>G PAHdb substitution intron 1 PAH_c.1022A>G PAH c.1022A>G PAHdb substitution exon 1 PAH_c.1039C>T PAH c.1039C>T PAHdb substitution exon 1 PAH_c.1066-3C>T PAH c.1066-3C>T PAHdb substitution intron 1 PAH_c.691T>C PAH c.691T>C PAHdb substitution exon 1 PAH_c.806delT PAH c.806delT PAHdb deletion exon 1 PAH_c.830A>G PAH c.830A>G PAHdb substitution exon 1 PAH_c.832A>G PAH c.832A>G PAHdb substitution exon 1 PAH_c.1047_1048insGTCA PAH c.1047_1048insGTCA PAHdb insertion exon 1 PAH_c.649T>G PAH c.649T>G PAHdb substitution exon 1 PAH_c.743T>G PAH c.743T>G PAHdb substitution exon 1 PAH_c.1114A>T PAH c.1114A>T PAHdb substitution exon 1 PAH_c.811C>T PAH c.811C>T PAHdb substitution exon 1 PAH_c.913-7A>G PAH c.913-7A>G PAHdb substitution intron 1 PAH_c.929C>T PAH c.929C>T PAHdb substitution exon 1 PAH_c.1130A>G PAH c.1130A>G PAHdb substitution exon 1 PAH_c.441+1G>A PAH c.441+1G>A PAHdb substitution intron 1 PAH_c.-71A>C PAH c.-71A>C PAHdb substitution 5' UTR 1 PAH_c.293T>C PAH c.293T>C PAHdb substitution exon 1 PAH_c.847A>T PAH c.847A>T PAHdb substitution exon 1 PAH_c.168+5G>C PAH c.168+5G>C PAHdb substitution intron 1 PAH_c.616T>G PAH c.616T>G PAHdb substitution exon 1 PAH_c.137delG PAH c.137delG PAHdb deletion exon 1 PAH_c.509+54C>G PAH c.509+54C>G PAHdb substitution intron 1 PAH_c.227A>C PAH c.227A>C PAHdb substitution exon 1 PAH_c.722G>T PAH c.722G>T PAHdb substitution exon 1 PAH_c.911A>G PAH c.911A>G PAHdb substitution exon 1 PAH_c.1001G>C PAH c.1001G>C PAHdb substitution exon 1 PAH_c.1198A>C PAH c.1198A>C PAHdb substitution exon 1 PAH_c.509+5delG PAH c.509+5delG PAHdb deletion intron 1 PAH_c.411C>T PAH c.411C>T PAHdb substitution exon 1 PAH_c.-224G>A PAH c.-224G>A PAHdb substitution 5' UTR 1 PAH_c.-147C>T PAH c.-147C>T PAHdb substitution 5' UTR 1 PAH_c.789C>G PAH c.789C>G PAHdb substitution exon 1 PAH_c.970-6T>G PAH c.970-6T>G PAHdb substitution intron 1 PAH_c.491T>C PAH c.491T>C PAHdb substitution exon 1 PAH_c.512G>C PAH c.512G>C PAHdb substitution exon 1 PAH_c.715G>A PAH c.715G>A PAHdb substitution exon 1 PAH_c.991T>C PAH c.991T>C PAHdb substitution exon 1 PAH_c.602A>G PAH c.602A>G PAHdb substitution exon 1 PAH_c.451G>C PAH c.451G>C PAHdb substitution exon 1 PAH_c.165T>G PAH c.165T>G PAHdb substitution exon 1 PAH_c.436C>T PAH c.436C>T PAHdb substitution exon 1 PAH_c.793T>G PAH c.793T>G PAHdb substitution exon 1 PAH_c.1048T>A PAH c.1048T>A PAHdb substitution exon 1 PAH_c.1043_1053del11 PAH c.1043_1053del11 PAHdb deletion exon 1 PAH_c.1237C>A PAH c.1237C>A PAHdb substitution exon 1 PAH_c.479A>C PAH c.479A>C PAHdb substitution exon 1 PAH_c.1159T>C PAH c.1159T>C PAHdb substitution exon 1 PAH_c.529G>C PAH c.529G>C PAHdb substitution exon 1 PAH_c.889C>T PAH c.889C>T PAHdb substitution exon 1 PAH_c.1196_1199delTAAG PAH c.1196_1199delTAAG PAHdb deletion exon 1 PAH_c.353-6T>A PAH c.353-6T>A PAHdb substitution intron 1 PAH_c.353-22C>T PAH c.353-22C>T PAHdb substitution intron 1 PAH_c.590_612del23 PAH c.590_612del23 PAHdb deletion exon 1 PAH_c.168+1G>A PAH c.168+1G>A PAHdb substitution intron 1 PAH_c.523C>G PAH c.523C>G PAHdb substitution exon 1 PAH_c.398_401delATCA PAH c.398_401delATCA PAHdb deletion exon 1 PAH_c.385G>T PAH c.385G>T PAHdb substitution exon 1 PAH_c.969+6T>A PAH c.969+6T>A PAHdb substitution intron 1 PAH_c.1289T>C PAH c.1289T>C PAHdb substitution exon 1 PAH_c.1033G>T PAH c.1033G>T PAHdb substitution exon 1 PAH_c.733G>C PAH c.733G>C PAHdb substitution exon 1 PAH_c.46T>C PAH c.46T>C PAHdb substitution exon 1 PAH_c.635T>C PAH c.635T>C PAHdb substitution exon 1 PAH_c.527G>C PAH c.527G>C PAHdb substitution exon 1 PAH_c.1066_1067ins6 PAH c.1066_1067ins6 PAHdb insertion exon 1 PAH_c.970-2A>C PAH c.970-2A>C PAHdb substitution intron 1 PAH_c.907T>C PAH c.907T>C PAHdb substitution exon 1 PAH_c.1021A>T PAH c.1021A>T PAHdb substitution exon 1 PAH_c.618C>G PAH c.618C>G PAHdb substitution exon 1 PAH_c.266_267insC PAH c.266_267insC PAHdb insertion exon 1 PAH_c.1099_1100insC PAH c.1099_1100insC PAHdb insertion exon 1 PAH_c.899C>T PAH c.899C>T PAHdb substitution exon 1 PAH_c.500A>T PAH c.500A>T PAHdb substitution exon 1 PAH_c.737C>A PAH c.737C>A PAHdb substitution exon 1 PAH_c.674C>G PAH c.674C>G PAHdb substitution exon 1 PAH_c.601C>T PAH c.601C>T PAHdb substitution exon 1 PAH_c.1022A>C PAH c.1022A>C PAHdb substitution exon 1 PAH_c.1010G>T PAH c.1010G>T PAHdb substitution exon 1 PAH_c.558_559delAT PAH c.558_559delAT PAHdb deletion exon 1 PAH_c.699C>A PAH c.699C>A PAHdb substitution exon 1 PAH_c.665A>T PAH c.665A>T PAHdb substitution exon 1 PAH_c.125A>T PAH c.125A>T PAHdb substitution exon 1 PAH_[c.470G>A;c.471A>C] [c.470G>A;c.471A>C] PAHdb substitution exon 1 PAH_c.648C>G PAH c.648C>G PAHdb substitution exon 1 PAH_c.511G>A PAH c.511G>A PAHdb substitution exon 1 PAH_c.992T>G PAH c.992T>G PAHdb substitution exon 1 PAH_c.960G>C PAH c.960G>C PAHdb substitution exon 1 PAH_c.434A>T PAH c.434A>T PAHdb substitution exon 1 PAH_c.1199+1G>C PAH c.1199+1G>C PAHdb substitution intron 1 PAH_c.982A>G PAH c.982A>G PAHdb substitution exon 1 PAH_c.241A>C PAH c.241A>C PAHdb substitution exon 1 PAH_c.1199+20G>C PAH c.1199+20G>C PAHdb substitution intron 1 PAH_c.208_210delTCT PAH c.208_210delTCT PAHdb deletion exon 1 PAH_c.922C>G PAH c.922C>G PAHdb substitution exon 1 PAH_c.843-2A>T PAH c.843-2A>T PAHdb substitution intron 1 PAH_c.1316-5T>C PAH c.1316-5T>C PAHdb substitution intron 1 PAH_c.1316-35C>T PAH c.1316-35C>T PAHdb substitution intron 1 PAH_c.1315+2T>C PAH c.1315+2T>C PAHdb substitution intron 1 PAH_c.907T>G PAH c.907T>G PAHdb substitution exon 1 PAH_c.30C>G PAH c.30C>G PAHdb substitution exon 1 PAH_c.563delG PAH c.563delG PAHdb deletion exon 1 PAH_c.609C>T PAH c.609C>T PAHdb substitution exon 1 PAH_c.1200-8G>A PAH c.1200-8G>A PAHdb substitution intron 1 PAH_c.833C>T PAH c.833C>T PAHdb substitution exon 1 PAH_c.47_48delCT PAH c.47_48delCT PAHdb deletion exon 1 PAH_c.802T>C PAH c.802T>C PAHdb substitution exon 1 PAH_c.913-5T>G PAH c.913-5T>G PAHdb substitution intron 1 PAH_c.1028A>T PAH c.1028A>T PAHdb substitution exon 1 PAH_c.-1C>T PAH c.-1C>T PAHdb substitution 5' UTR 1 PAH_c.545A>G PAH c.545A>G PAHdb substitution exon 1 PAH_c.895_897delTTT PAH c.895_897delTTT PAHdb deletion exon 1 PAH_c.967_969delACA PAH c.967_969delACA PAHdb deletion exon 1 PAH_c.1112A>G PAH c.1112A>G PAHdb substitution exon 1 PAH_c.157C>T PAH c.157C>T PAHdb substitution exon 1 PAH_c.140C>A PAH c.140C>A PAHdb substitution exon 1 PAH_c.707-1G>A PAH c.707-1G>A PAHdb substitution intron 1 PAH_c.265C>T PAH c.265C>T PAHdb substitution exon 1 PAH_c.608G>A PAH c.608G>A PAHdb substitution exon 1 PAH_c.207_209delTTC PAH c.207_209delTTC PAHdb deletion exon 1 PAH_c.559T>C PAH c.559T>C PAHdb substitution exon 1 PAH_c.970-5T>A PAH c.970-5T>A PAHdb substitution intron 1 PAH_c.970-6T>G;c.969_970ins78 c.970-6T>G;c.969_970ins78 PAHdb complex intron 1 PAH_c.1264G>A PAH c.1264G>A PAHdb substitution exon 1 PAH_c.365C>A PAH c.365C>A PAHdb substitution exon 1 PAH_c.386A>G PAH c.386A>G PAHdb substitution exon 1 PAH_c.439C>T PAH c.439C>T PAHdb substitution exon 1 PAH_c.452A>G PAH c.452A>G PAHdb substitution exon 1 PAH_c.493G>A PAH c.493G>A PAHdb substitution exon 1 PAH_c.586_608del23 PAH c.586_608del23 PAHdb deletion exon 1 PAH_c.769G>A PAH c.769G>A PAHdb substitution exon 1 PAH_c.1046C>T PAH c.1046C>T PAHdb substitution exon 1 PAH_c.940delC PAH c.940delC PAHdb deletion exon 1 PAH_c.1219C>T PAH c.1219C>T PAHdb substitution exon 1 PAH_c.770G>A PAH c.770G>A PAHdb substitution exon 1 PAH_c.510-6T>G PAH c.510-6T>G PAHdb substitution intron 1 PAH_c.1024G>C PAH c.1024G>C PAHdb substitution exon 1 PAH_c.716G>C PAH c.716G>C PAHdb substitution exon 1 PAH_c.810_814del5 PAH c.810_814del5 PAHdb deletion exon 1 PAH_c.329C>T PAH c.329C>T PAHdb substitution exon 1 PAH_c.168+5G>A PAH c.168+5G>A PAHdb substitution intron 1 PAH_c.665A>G PAH c.665A>G PAHdb substitution exon 1 PAH_c.1066T>C PAH c.1066T>C PAHdb substitution exon 1 PAH_c.441+5G>T PAH c.441+5G>T PAHdb substitution intron 1 PAH_c.1200-1G>A PAH c.1200-1G>A PAHdb substitution intron 1 PAH_c.671T>C PAH c.671T>C PAHdb substitution exon 1 PAH_c.131_133delAAG PAH c.131_133delAAG PAHdb deletion exon 1 PAH_c.842+3G>C PAH c.842+3G>C PAHdb substitution intron 1 PAH_c.232G>A PAH c.232G>A PAHdb substitution exon 1 PAH_c.864G>C PAH c.864G>C PAHdb substitution exon 1 PAH_c.556delA PAH c.556delA PAHdb deletion exon 1 PAH_c.1237C>T PAH c.1237C>T PAHdb substitution exon 1 PAH_c.493G>C PAH c.493G>C PAHdb substitution exon 1 PAH_c.1084C>A PAH c.1084C>A PAHdb substitution exon 1 PAH_c.1163_1164delTG PAH c.1163_1164delTG PAHdb deletion exon 1 PAH_c.155T>C PAH c.155T>C PAHdb substitution exon 1 PAH_c.158G>A PAH c.158G>A PAHdb substitution exon 1 PAH_c.208T>C PAH c.208T>C PAHdb substitution exon 1 PAH_c.231T>G PAH c.231T>G PAHdb substitution exon 1 PAH_c.1066-14C>G PAH c.1066-14C>G PAHdb substitution intron 1 PAH_c.794G>A PAH c.794G>A PAHdb substitution exon 1 PAH_c.561G>C PAH c.561G>C PAHdb substitution exon 1 PAH_c.442-?_706+?del PAH c.442-?_706+?del PAHdb deletion not within known transcription unit 0 PAH_c.718T>G PAH c.718T>G PAHdb substitution exon 1 PAH_c.746T>A PAH c.746T>A PAHdb substitution exon 1 PAH_c.760T>A PAH c.760T>A PAHdb substitution exon 1 PAH_c.770G>T PAH c.770G>T PAHdb substitution exon 1 PAH_c.743T>C PAH c.743T>C PAHdb substitution exon 1 PAH_c.169-13T>G PAH c.169-13T>G PAHdb substitution intron 1 PAH_c.194T>A PAH c.194T>A PAHdb substitution exon 1 PAH_c.163_165delTTT PAH c.163_165delTTT PAHdb deletion exon 1 PAH_c.533A>T PAH c.533A>T PAHdb substitution exon 1 PAH_c.1200-1delG PAH c.1200-1delG PAHdb deletion intron 1 PAH_c.520A>G PAH c.520A>G PAHdb substitution exon 1 PAH_c.1063C>T PAH c.1063C>T PAHdb substitution exon 1 PAH_c.183C>G PAH c.183C>G PAHdb substitution exon 1 PAH_c.227A>G PAH c.227A>G PAHdb substitution exon 1 PAH_c.694C>T PAH c.694C>T PAHdb substitution exon 1 PAH_c.1056delT PAH c.1056delT PAHdb deletion exon 1 PAH_c.1217T>C PAH c.1217T>C PAHdb substitution exon 1 PAH_c.1199+5G>T PAH c.1199+5G>T PAHdb substitution intron 1 PAH_c.175G>T PAH c.175G>T PAHdb substitution exon 1 PAH_c.853C>T PAH c.853C>T PAHdb substitution exon 1 PAH_c.281T>G PAH c.281T>G PAHdb substitution exon 1 PAH_c.737C>T PAH c.737C>T PAHdb substitution exon 1 PAH_c.969A>G PAH c.969A>G PAHdb substitution exon 1 PAH_c.1030G>A PAH c.1030G>A PAHdb substitution exon 1 PAH_c.884C>G PAH c.884C>G PAHdb substitution exon 1 PAH_c.929_939del11 PAH c.929_939del11 PAHdb deletion exon 1 PAH_c.1194A>G PAH c.1194A>G PAHdb substitution exon 1 PAH_c.283A>T PAH c.283A>T PAHdb substitution exon 1 PAH_c.202A>G PAH c.202A>G PAHdb substitution exon 1 PAH_c.130_132delGAA PAH c.130_132delGAA PAHdb deletion exon 1 PAH_c.673C>G PAH c.673C>G PAHdb substitution exon 1 PAH_c.1066-1G>A PAH c.1066-1G>A PAHdb substitution exon 1 PAH_c.1355_1356insA PAH c.1355_1356insA PAHdb insertion exon 1 PAH_c.981T>G PAH c.981T>G PAHdb substitution exon 1 PAH_c.1024delG PAH c.1024delG PAHdb deletion exon 1 PAH_c.193A>G PAH c.193A>G PAHdb substitution exon 1 PAH_c.1054G>C PAH c.1054G>C PAHdb substitution exon 1 PAH_c.806T>A PAH c.806T>A PAHdb substitution exon 1 PAH_c.1036G>C PAH c.1036G>C PAHdb substitution exon 1 PAH_c.1065+3A>C PAH c.1065+3A>C PAHdb substitution intron 1 PAH_c.498C>A PAH c.498C>A PAHdb substitution exon 1 PAH_c.716G>T PAH c.716G>T PAHdb substitution exon 1 PAH_c.823C>T PAH c.823C>T PAHdb substitution exon 1 PAH_c.502T>C PAH c.502T>C PAHdb substitution exon 1 PAH_c.805A>C PAH c.805A>C PAHdb substitution exon 1 PAH_c.848T>A PAH c.848T>A PAHdb substitution exon 1 PAH_c.733G>A PAH c.733G>A PAHdb substitution exon 1 PAH_c.490A>G PAH c.490A>G PAHdb substitution exon 1 PAH_c.212G>A PAH c.212G>A PAHdb substitution exon 1 PAH_c.1132A>T PAH c.1132A>T PAHdb substitution exon 1 PAH_c.344_347delAAGA PAH c.344_347delAAGA PAHdb deletion exon 1 PAH_c.937G>A PAH c.937G>A PAHdb substitution exon 1 PAH_c.-4173_-407del3767 PAH c.-4173_-407del3767 PAHdb deletion 5' UTR 1 PAH_c.442-?_509+?del PAH c.442-?_509+?del PAHdb deletion not within known transcription unit 0 PAH_c.676C>T PAH c.676C>T PAHdb substitution exon 1 PAH_c.838G>C PAH c.838G>C PAHdb substitution exon 1 PAH_c.940C>T PAH c.940C>T PAHdb substitution exon 1 PAH_c.1249T>C PAH c.1249T>C PAHdb substitution exon 1 PAH_c.824C>T PAH c.824C>T PAHdb substitution exon 1 PAH_c.929C>A PAH c.929C>A PAHdb substitution exon 1 PAH_c.181A>G PAH c.181A>G PAHdb substitution exon 1 PAH_c.194T>G PAH c.194T>G PAHdb substitution exon 1 PAH_c.510T>A PAH c.510T>A PAHdb substitution exon 1 PAH_c.938C>T PAH c.938C>T PAHdb substitution exon 1 PAH_c.1117G>A PAH c.1117G>A PAHdb substitution exon 1 PAH_c.649T>C PAH c.649T>C PAHdb substitution exon 1 PAH_c.1019T>C PAH c.1019T>C PAHdb substitution exon 1 PAH_c.620A>G PAH c.620A>G PAHdb substitution exon 1 PAH_c.827T>A PAH c.827T>A PAHdb substitution exon 1 PAH_c.827T>G PAH c.827T>G PAHdb substitution exon 1 PAH_c.839_840insT PAH c.839_840insT PAHdb insertion exon 1 PAH_c.1065+32T>A PAH c.1065+32T>A PAHdb substitution intron 1 PAH_c.441+47C>T PAH c.441+47C>T PAHdb substitution intron 1 PAH_c.1204T>C PAH c.1204T>C PAHdb substitution exon 1 PAH_c.841C>T PAH c.841C>T PAHdb substitution exon 1 PAH_c.508C>G PAH c.508C>G PAHdb substitution exon 1 PAH_c.500A>G PAH c.500A>G PAHdb substitution exon 1 PAH_c.284_286delTCA PAH c.284_286delTCA PAHdb deletion exon 1 PAH_c.617A>G PAH c.617A>G PAHdb substitution exon 1 PAH_c.704A>C PAH c.704A>C PAHdb substitution exon 1 PAH_c.716G>A PAH c.716G>A PAHdb substitution exon 1 PAH_c.722delG PAH c.722delG PAHdb deletion exon 1 PAH_c.739G>A PAH c.739G>A PAHdb substitution exon 1 PAH_c.739G>C PAH c.739G>C PAHdb substitution exon 1 PAH_c.839A>G PAH c.839A>G PAHdb substitution exon 1 PAH_c.1007A>G PAH c.1007A>G PAHdb substitution exon 1 PAH_c.1184C>A PAH c.1184C>A PAHdb substitution exon 1 PAH_c.1199G>C PAH c.1199G>C PAHdb substitution exon 1 PAH_c.1199+2T>C PAH c.1199+2T>C PAHdb substitution intron 1 PAH_c.1301C>A PAH c.1301C>A PAHdb substitution exon 1 PAH_c.845A>G PAH c.845A>G PAHdb substitution exon 1 PAH_c.856G>A PAH c.856G>A PAHdb substitution exon 1 PAH_c.935G>A PAH c.935G>A PAHdb substitution exon 1 PAH_c.940C>A PAH c.940C>A PAHdb substitution exon 1 PAH_c.241_256del16 PAH c.241_256del16 PAHdb deletion exon 1 PAH_[c.796A>G;c.797C>A] [c.796A>G;c.797C>A] PAHdb substitution exon 1 PAH_c.503delA PAH c.503delA PAHdb deletion exon 1 PAH_c.510-6T>A PAH c.510-6T>A PAHdb substitution intron 1 PAH_c.1166delC PAH c.1166delC PAHdb deletion exon 1 PAH_c.264_265insC PAH c.264_265insC PAHdb insertion exon 1 PAH_c.1098_1099insC PAH c.1098_1099insC PAHdb insertion exon 1 PAH_c.619A>G PAH c.619A>G PAHdb substitution exon 1 PAH_c.975C>G PAH c.975C>G PAHdb substitution exon 1 PAH_c.963C>T PAH c.963C>T PAHdb substitution exon 1 PAH_c.1220C>T PAH c.1220C>T PAHdb substitution exon 1 PAH_c.1100T>C PAH c.1100T>C PAHdb substitution exon 1 PAH_c.2T>G PAH c.2T>G PAHdb substitution exon 1 PAH_c.59A>T PAH c.59A>T PAHdb substitution exon 1 PAH_c.122T>C PAH c.122T>C PAHdb substitution exon 1 PAH_c.464G>C PAH c.464G>C PAHdb substitution exon 1 PAH_c.547G>C PAH c.547G>C PAHdb substitution exon 1 PAH_c.692C>T PAH c.692C>T PAHdb substitution exon 1 PAH_c.974A>G PAH c.974A>G PAHdb substitution exon 1 PAH_c.990G>C PAH c.990G>C PAHdb substitution exon 1 PAH_c.1030G>C PAH c.1030G>C PAHdb substitution exon 1 PAH_c.1031G>T PAH c.1031G>T PAHdb substitution exon 1 PAH_c.1229T>C PAH c.1229T>C PAHdb substitution exon 1 PAH_c.969+1G>A PAH c.969+1G>A PAHdb substitution intron 1 PAH_c.169_171delGAG PAH c.169_171delGAG PAHdb deletion exon 1 PAH_c.441+4A>G PAH c.441+4A>G PAHdb substitution intron 1 PAH_c.580_581delCT PAH c.580_581delCT PAHdb deletion exon 1 PAH_c.728G>T PAH c.728G>T PAHdb substitution exon 1 PAH_c.737delC PAH c.737delC PAHdb deletion exon 1 PAH_c.943G>T PAH c.943G>T PAHdb substitution exon 1 PAH_c.995G>A PAH c.995G>A PAHdb substitution exon 1 PAH_c.1087_1088delAA PAH c.1087_1088delAA PAHdb deletion exon 1 PAH_c.1278T>C PAH c.1278T>C PAHdb substitution exon 1 PAH_c.838_842+3del8 PAH c.838_842+3del8 PAHdb deletion exon 1 PAH_c.1357del5 PAH c.1357del5 PAHdb deletion exon 1 PAH_c.1054G>T PAH c.1054G>T PAHdb substitution exon 1 PAH_c.529G>A PAH c.529G>A PAHdb substitution exon 1 PAH_c.305T>C PAH c.305T>C PAHdb substitution exon 1 PAH_c.1271T>C PAH c.1271T>C PAHdb substitution exon 1 PAH_c.706+17G>T PAH c.706+17G>T PAHdb substitution intron 1 PAH_c.614A>C PAH c.614A>C PAHdb substitution exon 1 PAH_c.719T>C PAH c.719T>C PAHdb substitution exon 1 PAH_c.820A>G PAH c.820A>G PAHdb substitution exon 1 PAH_c.953T>C PAH c.953T>C PAHdb substitution exon 1 PAH_c.1232C>A PAH c.1232C>A PAHdb substitution exon 1 PAH_c.1069T>G PAH c.1069T>G PAHdb substitution exon 1 PAH_c.1199+17G>A PAH c.1199+17G>A PAHdb substitution intron 1 PAH_c.678G>C PAH c.678G>C PAHdb substitution intron 1 PAH_c.650G>A PAH c.650G>A PAHdb substitution exon 1 PAH_c.922C>T PAH c.922C>T PAHdb substitution exon 1 PAH_c.1099delC PAH c.1099delC PAHdb deletion exon 1 PAH_c.535T>C PAH c.535T>C PAHdb substitution exon 1 PAH_c.707-7A>T PAH c.707-7A>T PAHdb substitution intron 1 PAH_c.1249T>A PAH c.1249T>A PAHdb substitution exon 1 PAH_c.473G>C PAH c.473G>C PAHdb substitution exon 1 PAH_c.1049C>A PAH c.1049C>A PAHdb substitution exon 1 PAH_c.176A>G PAH c.176A>G PAHdb substitution exon 1 PAH_c.689T>G PAH c.689T>G PAHdb substitution exon 1 PAH_c.740G>A PAH c.740G>A PAHdb substitution exon 1 PAH_c.1046C>A PAH c.1046C>A PAHdb substitution exon 1 PAH_c.1_1359del PAH c.1_1359del PAHdb deletion not within known transcription unit 0 PAH_c.510-54G>A PAH c.510-54G>A PAHdb substitution intron 1 PAH_c.1316-15T>C PAH c.1316-15T>C PAHdb substitution exon 1 PAH_c.869A>G PAH c.869A>G PAHdb substitution exon 1 PAH_c.969+5G>A PAH c.969+5G>A PAHdb substitution intron 1 PAH_c.1065+7C>A PAH c.1065+7C>A PAHdb substitution intron 1 PAH_c.111_112insG PAH c.111_112insG PAHdb insertion exon 1 PAH_c.441+3G>C PAH c.441+3G>C PAHdb substitution intron 1 PAH_c.460T>C PAH c.460T>C PAHdb substitution exon 1 PAH_c.470G>A PAH c.470G>A PAHdb substitution exon 1 PAH_c.470G>T PAH c.470G>T PAHdb substitution exon 1 PAH_c.598_599insA PAH c.598_599insA PAHdb insertion exon 1 PAH_c.801G>C PAH c.801G>C PAHdb substitution exon 1 PAH_c.799C>G PAH c.799C>G PAHdb substitution exon 1 PAH_c.904delT PAH c.904delT PAHdb deletion exon 1 PAH_c.1036G>A PAH c.1036G>A PAHdb substitution exon 1 PAH_c.1045T>G PAH c.1045T>G PAHdb substitution exon 1 PAH_c.1101G>A PAH c.1101G>A PAHdb substitution exon 1 PAH_c.1199G>A PAH c.1199G>A PAHdb substitution exon 1 PAH_c.1315+4A>G PAH c.1315+4A>G PAHdb substitution intron 1 PAH_c.1315+6T>A PAH c.1315+6T>A PAHdb substitution intron 1 PAH_c.161T>C PAH c.161T>C PAHdb substitution exon 1 PAH_c.1027T>G PAH c.1027T>G PAHdb substitution exon 1 PAH_c.205C>T PAH c.205C>T PAHdb substitution exon 1 PAH_c.1089G>T PAH c.1089G>T PAHdb substitution exon 1 PAH_c.613G>A PAH c.613G>A PAHdb substitution exon 1 PAH_c.464G>A PAH c.464G>A PAHdb substitution exon 1 PAH_c.841delCCG PAH c.841delCCG PAHdb deletion exon 1 PAH_c.527G>A PAH c.527G>A PAHdb substitution exon 1 PAH_c.506G>A PAH c.506G>A PAHdb substitution exon 1 PAH_c.824C>G PAH c.824C>G PAHdb substitution exon 1 PAH_c.1229T>G PAH c.1229T>G PAHdb substitution exon 1 PAH_c.1127delA PAH c.1127delA PAHdb deletion exon 1 PAH_c.169_352del184 PAH c.169_352del184 PAHdb deletion exon 1 PAH_c.442_509del68 PAH c.442_509del68 PAHdb deletion exon 1 PAH_c.442_509del PAH c.442_509del PAHdb deletion exon 1 PAH_c.969+43G>T PAH c.969+43G>T PAHdb substitution intron 1 PAH_c.1065+39G>T PAH c.1065+39G>T PAHdb substitution intron 1 PAH_c.1065+97G>A PAH c.1065+97G>A PAHdb substitution intron 1 PAH_c.664-665delGA PAH c.664-665delGA PAHdb deletion exon 1 PAH_c.1A>T PAH c.1A>T PAHdb substitution exon 1 PAH_c.386A>T PAH c.386A>T PAHdb substitution exon 1 PAH_c.400C>T PAH c.400C>T PAHdb substitution exon 1 PAH_c.368G>T PAH c.368G>T PAHdb substitution exon 1 PAH_c.850T>C PAH c.850T>C PAHdb substitution exon 1 PAH_c.60+40T>G PAH c.60+40T>G PAHdb substitution intron 1 PAH_c.352+1G>A PAH c.352+1G>A PAHdb substitution intron 1 PAH_c.1066-31G>A PAH c.1066-31G>A PAHdb substitution intron 1 PAH_c.466G>C PAH c.466G>C PAHdb substitution exon 1 PAH_c.1031G>A PAH c.1031G>A PAHdb substitution exon 1 PAH_c.206_208delCTT PAH c.206_208delCTT PAHdb deletion exon 1 PAH_c.60G>C PAH c.60G>C PAHdb substitution exon 1 PAH_c.535T>A PAH c.535T>A PAHdb substitution exon 1 PAH_c.563G>A PAH c.563G>A PAHdb substitution exon 1 PAH_c.609C>G PAH c.609C>G PAHdb substitution exon 1 PAH_c.808A>G PAH c.808A>G PAHdb substitution exon 1 PAH_c.842+1G>T PAH c.842+1G>T PAHdb substitution intron 1 PAH_c.1156T>G PAH c.1156T>G PAHdb substitution exon 1 PAH_c.812A>G PAH c.812A>G PAHdb substitution exon 1 PAH_c.865G>C PAH c.865G>C PAHdb substitution exon 1 PAH_c.440C>T PAH c.440C>T PAHdb substitution exon 1 PAH_c.1175T>C PAH c.1175T>C PAHdb substitution exon 1 PAH_c.1262T>C PAH c.1262T>C PAHdb substitution exon 1 PAH_c.190delc PAH c.190delc PAHdb deletion exon 1 PAH_c.592_613del22 PAH c.592_613del22 PAHdb deletion exon 1 PAH_c.441+6T>C PAH c.441+6T>C PAHdb substitution intron 1 PAH_c.591_612del22pb PAH c.591_612del22pb PAHdb deletion exon 1 PEX1_00035 PEX1:c.-137T>C dbPEX substitution not within known transcription unit 1 PEX1_00036 PEX1:c.-53C>G dbPEX substitution not within known transcription unit 1 PEX1_00027 PEX1:c.434_448delinsGCAA dbPEX complex exon 1 PEX1_00043 PEX1:c.781C>T dbPEX substitution exon 1 PEX1_00025 PEX1:c.788_789delCA dbPEX deletion exon 1 PEX1_00011 PEX1:c.904delG dbPEX deletion exon 1 PEX1_00039 PEX1:c.1108_1109insA dbPEX insertion exon 1 PEX1_00046 PEX1:c.1991T>C dbPEX substitution exon 1 PEX1_00072 PEX1:c.1239G>A dbPEX substitution exon 1 PEX1_00026 PEX1:c.1670+5G>T dbPEX substitution intron 1 PEX1_00029 PEX1:c.1777G>A dbPEX substitution exon 1 PEX1_00075 PEX1:c.1842delA dbPEX deletion exon 1 PEX1_00017 PEX1:c.1865_1866insCAGTGTGGA dbPEX insertion exon 1 PEX1_00044 PEX1:c.1897C>T dbPEX substitution exon 1 PEX1_00023 PEX1:c.1952_1960insCAGTGTGGA dbPEX insertion exon 1 PEX1_00028 PEX1:c.2008C>A dbPEX substitution exon 1 PEX1_00049 PEX1:c.2034_2035delCA dbPEX deletion exon 1 PEX1_00030 PEX1:c.2071+1G>T dbPEX substitution intron 1 PEX1_00037 PEX1:c.2088A>G dbPEX substitution exon 1 PEX1_00040 PEX1:c.2391_2392delTC dbPEX deletion exon 1 PEX1_00005 PEX1:c.126+1G>T dbPEX substitution intron 1 PEX1_00004 PEX1:c.188+1G>C dbPEX substitution intron 1 PEX1_00006 PEX1:c.600+1G>A dbPEX substitution intron 1 PEX1_00001 PEX1:c.681-2A>C dbPEX substitution intron 1 PEX1_00003 PEX1:c.952+2T>C dbPEX substitution intron 1 PEX1_00008 PEX1:c.1688+1G>A dbPEX substitution intron 1 PEX1_00019 PEX1:c.2085_2089delGATAA dbPEX deletion exon 1 PEX1_00002 PEX1:c.2097_2098insT dbPEX insertion exon 1 PEX1_00022 PEX1:c.2227_2416del dbPEX deletion exon 1 PEX1_00038 PEX1:c.2331C>A dbPEX substitution exon 1 PEX1_00012 PEX1:c.2368C>T dbPEX substitution exon 1 PEX1_00031 PEX1:c.2383C>T dbPEX substitution exon 1 PEX1_00013 PEX1:c.2392C>G dbPEX substitution exon 1 PEX1_00009 PEX1:c.2528G>A dbPEX substitution exon 1 PEX1_00016 PEX1:c.2537_2545delATGAAGTTAinsTCATGGT dbPEX complex exon 1 PEX1_00021 PEX1:c.2614C>T dbPEX substitution exon 1 PEX1_00010 PEX1:c.2730delA dbPEX deletion exon 1 PEX1_00020 PEX1:c.2814_2818delCTTTG dbPEX deletion exon 1 PEX1_00034 PEX1:c.2846G>A dbPEX substitution exon 1 PEX1_00007 PEX1:c.2916delA dbPEX deletion exon 1 PEX1_00018 PEX1:c.2926+1G>A dbPEX substitution intron 1 PEX1_00014 PEX1:c.2926+2T>C dbPEX substitution intron 1 PEX1_00041 PEX1:c.2966T>C dbPEX substitution exon 1 PEX1_00015 PEX1:c.2992C>T dbPEX substitution exon 1 PEX1_00042 PEX1:c.2993G>A dbPEX substitution exon 1 PEX1_00048 PEX1:c.3022_3024delCCT dbPEX deletion exon 1 PEX1_00033 PEX1:c.3180_3181insT dbPEX insertion exon 1 PEX1_00074 PEX1:c.3207+1G>C dbPEX substitution intron 1 PEX1_00045 PEX1:c.3378C>A/G dbPEX substitution exon 1 PEX1_00024 PEX1:c.3850T>C dbPEX substitution exon 1 PEX10_00001 PEX10:c.4delG dbPEX deletion exon 1 PEX10_00010 PEX10:c.13_28delins20 dbPEX complex exon 1 PEX10_00018 PEX10:c.52G>A dbPEX substitution exon 1 PEX10_00011 PEX10:c.279C>T dbPEX substitution exon 1 PEX10_00013 PEX10:c.332T>C dbPEX substitution exon 1 PEX10_00006 PEX10:c.373C>T dbPEX substitution exon 1 PEX10_00008 PEX10:c.600+1G>A dbPEX substitution intron 1 PEX10_00003 PEX10:c.704_705insA * dbPEX insertion exon 1 PEX10_00005 PEX10:c.730C>T * dbPEX substitution exon 1 PEX10_00009 PEX10:c.814_815delCT dbPEX deletion exon 1 PEX10_00014 PEX10:c.820A>G dbPEX substitution exon 1 PEX10_00019 PEX10:c.835G>T dbPEX substitution exon 1 PEX10_00015 PEX10:c.843G>A dbPEX substitution exon 1 PEX10_00004 PEX10:c.868C>G dbPEX substitution exon 1 PEX10_00007 PEX10:c.870C>G dbPEX substitution exon 1 PEX10_00017 PEX10:c.881G>A dbPEX substitution exon 1 PEX10_00016 PEX10:c.981+11G>A dbPEX substitution intron 1 PEX12_00012 PEX12:c.26_27delCA dbPEX deletion exon 1 PEX12_00010 PEX12:c.126+1G>T dbPEX substitution intron 1 PEX12_00013 PEX12:c.202_204delCTT dbPEX deletion exon 1 PEX12_00002 PEX12:c.260_261insAA dbPEX insertion exon 1 PEX12_00014 PEX12:c.268_271delAAGA dbPEX deletion exon 1 PEX12_00017 PEX12:c.273A>T dbPEX substitution exon 1 PEX12_00018 PEX12:c.308_309insT dbPEX insertion exon 1 PEX12_00011 PEX12:c.538C>T dbPEX substitution exon 1 PEX12_00004 PEX12:c.541_542insT dbPEX insertion exon 1 PEX12_00019 PEX12:c.604C>T dbPEX substitution exon 1 PEX12_00020 PEX12:c.625C>T dbPEX substitution exon 1 PEX12_00001 PEX12:c.681-2A>C dbPEX substitution intron 1 PEX12_00015 PEX12:c.684_687delTAGT dbPEX deletion exon 1 PEX12_00005 PEX12:c.733_734insGCCT dbPEX insertion exon 1 PEX12_00016 PEX12:c.744_745insT dbPEX insertion exon 1 PEX12_00021 PEX12:c.875_876delCT dbPEX deletion exon 1 PEX12_00006 PEX12:c.887delT dbPEX deletion exon 1 PEX12_00008 PEX12:c.887_888delTC dbPEX deletion exon 1 PEX12_00022 PEX12:c.949C>T dbPEX substitution exon 1 PEX12_00009 PEX12:c.959C>T dbPEX substitution exon 1 PEX12_00007 PEX12:c.1047_1049delACA dbPEX deletion exon 1 PEX13_00003 PEX13:c.937T>G dbPEX substitution exon 1 PEX13_00002 PEX13:c.970G>T dbPEX substitution exon 1 PEX13_00001 PEX13:c.977T>C dbPEX substitution exon 1 PEX14_00001 PEX14:c.553C>T dbPEX substitution exon 1 PEX16_00001 PEX16:c.526C>T dbPEX substitution exon 1 PEX16_00002 PEX16:c.952+2T>C dbPEX substitution intron 1 PEX19_00001 PEX19:c.763_764insA dbPEX insertion exon 1 PEX2_00010 PEX2:c.-58G>T dbPEX substitution not within known transcription unit 1 PEX2_00011 PEX2:c.24G>A dbPEX substitution exon 1 PEX2_00014 PEX2:c.115C>T dbPEX substitution exon 1 PEX2_00004 PEX2:c.163G>A dbPEX substitution exon 1 PEX2_00012 PEX2:c.209A>G dbPEX substitution exon 1 PEX2_00001 PEX2:c.273delT dbPEX deletion exon 1 PEX2_00007 PEX2:c.279_283delGAGAT dbPEX deletion exon 1 PEX2_00002 PEX2:c.355C>T dbPEX substitution exon 1 PEX2_00003 PEX2:c.373C>T dbPEX substitution exon 1 PEX2_00013 PEX2:c.477G>A dbPEX substitution exon 1 PEX2_00006 PEX2:c.550delC dbPEX deletion exon 1 PEX2_00005 PEX2:c.642delG dbPEX deletion exon 1 PEX2_00008 PEX2:c.669G>A dbPEX substitution exon 1 PEX2_00009 PEX2:c.739T>C dbPEX substitution exon 1 PEX2_00015 PEX2:c.834_838delTACTT dbPEX deletion exon 1 PEX26_00008 PEX26:c.2T>C dbPEX substitution exon 1 PEX26_00010 PEX26:c.34_35insC dbPEX insertion exon 1 PEX26_00001 PEX26:c.37_38delAG dbPEX deletion exon 1 PEX26_00016 PEX26:c.131T>C dbPEX substitution exon 1 PEX26_00009 PEX26:c.134T>C dbPEX substitution exon 1 PEX26_00003 PEX26:c.192_216del dbPEX deletion exon 1 PEX26_00013 PEX26:c.230+1G>T dbPEX substitution intron 1 PEX26_00012 PEX26:c.254_255insT dbPEX insertion exon 1 PEX26_00011 PEX26:c.265G>A dbPEX substitution exon 1 PEX26_00005 PEX26:c.292C>T dbPEX substitution exon 1 PEX26_00007 PEX26:c.296G>A dbPEX substitution exon 1 PEX26_00015 PEX26:c.350C>T dbPEX substitution exon 1 PEX26_00004 PEX26:c.353C>G dbPEX substitution exon 1 PEX26_00018 PEX26:c.457C>G dbPEX substitution exon 1 PEX26_00019 PEX26:c.497G>A dbPEX substitution exon 1 PEX26_00006 PEX26:c.574C>T dbPEX substitution exon 1 PEX26_00002 PEX26:c.667+2T>C dbPEX substitution intron 1 PEX26_00014 PEX26:c.862delC dbPEX deletion exon 1 PEX3_00001 PEX3:c.543_544insT dbPEX insertion exon 1 PEX3_00002 PEX3:c.942-8T>G dbPEX substitution intron 1 PEX5_00009 PEX5:c.826C>T dbPEX substitution exon 1 PEX5_00007 PEX5:c.1184+5G>A dbPEX substitution intron 1 PEX5_00003 PEX5:c.1255C>T dbPEX substitution exon 1 PEX5_00002 PEX5:c.1554T>G dbPEX substitution exon 1 PEX5_00013 PEX5:c.1561-2A>C dbPEX substitution intron 1 PEX5_00001 PEX5:c.1578T>G dbPEX substitution exon 1 PEX6_00043 PEX6:c.-304A>G dbPEX substitution not within known transcription unit 1 PEX6_00042 PEX6:c.-55C>T dbPEX substitution not within known transcription unit 1 PEX6_00004 PEX6:c.10_69del dbPEX deletion exon 1 PEX6_00004.1 PEX6:c.126_217del dbPEX deletion exon 1 PEX6_00054 PEX6:c.35T>C dbPEX substitution exon 1 PEX6_00061 PEX6:c.114_119delTGGCCCT dbPEX deletion exon 1 PEX6_00020 PEX6:c.170T>C dbPEX substitution exon 1 PEX6_00062 PEX6:c.224dupT dbPEX duplication exon 1 PEX6_00035 PEX6:c.235G>C dbPEX substitution exon 1 PEX6_00021 PEX6:c.275_280delTGCGGG dbPEX deletion exon 1 PEX6_00063 PEX6:c.277C>G dbPEX substitution exon 1 PEX6_00052 PEX6:c.281C>A dbPEX substitution exon 1 PEX6_00017 PEX6:c.282_287del dbPEX deletion exon 1 PEX6_00051 PEX6:c.311delG dbPEX deletion exon 1 PEX6_00036 PEX6:c.399T>G dbPEX substitution exon 1 PEX6_00023 PEX6:c.402delC dbPEX deletion exon 1 PEX6_00007 PEX6:c.510_511insT dbPEX insertion exon 1 PEX6_00008 PEX6:c.517delA dbPEX deletion exon 1 PEX6_00022 PEX6:c.530delC dbPEX deletion exon 1 PEX6_00064 PEX6:c.557C>A dbPEX substitution exon 1 PEX6_00068 PEX6:c.656A>C dbPEX substitution exon 1 PEX6_00065 PEX6:c.656delA dbPEX deletion exon 1 PEX6_00066 PEX6:c.659G>T dbPEX substitution exon 1 PEX6_00046 PEX6:c.685_686insAG dbPEX insertion exon 1 PEX6_00028 PEX6:c.727C>T dbPEX substitution exon 1 PEX6_00002 PEX6:c.802_815del dbPEX deletion exon 1 PEX6_00038 PEX6:c.813G>T dbPEX substitution exon 1 PEX6_00024 PEX6:c.814_817dupCTTG dbPEX duplication exon 1 PEX6_00055 PEX6:c.821C>T dbPEX substitution exon 1 PEX6_00010 PEX6:c.853C>G dbPEX substitution exon 1 PEX6_00071 PEX6:c.856delC dbPEX deletion exon 1 PEX6_00067 PEX6:c.867delA dbPEX deletion exon 1 PEX6_00056 PEX6:c.882+1G>A dbPEX substitution intron 1 PEX6_00044 PEX6:c.883-3T>C dbPEX substitution intron 1 PEX6_00029 PEX6:c.883-2A>G dbPEX substitution intron 1 PEX6_00072 PEX6:c.883_1130del dbPEX deletion exon 1 PEX6_00058 PEX6:c.914delA dbPEX deletion exon 1 PEX6_00074 PEX6:c.1047-2A>G dbPEX substitution intron 1 PEX6_00073 PEX6:c.1047-1G>A dbPEX substitution intron 1 PEX6_00075 PEX6:c.1054C>T dbPEX substitution exon 1 PEX6_00076 PEX6:c.1130+1G>A dbPEX substitution intron 1 PEX6_00077 PEX6:c.1131-1G>C dbPEX substitution intron 1 PEX6_00047 PEX6:c.1176T>A dbPEX substitution exon 1 PEX6_00078 PEX6:c.1198T>A dbPEX substitution exon 1 PEX6_00030 PEX6:c.1301delC dbPEX deletion exon 1 PEX6_00079 PEX6:c.1314_1321delGGAGGCCT dbPEX deletion exon 1 PEX6_00080 PEX6:c.1367+1delG dbPEX deletion intron 1 PEX6_00011 PEX6:c.1314_1320del dbPEX deletion exon 1 PEX6_00081 PEX6:c.1404delA dbPEX deletion exon 1 PEX6_00082 PEX6:c.1415dupC dbPEX duplication exon 1 PEX6_00014 PEX6:c.499_500delTG dbPEX deletion exon 1 PEX6_00083 PEX6:c.1495delC dbPEX deletion exon 1 PEX6_00084 PEX6:c.1532T>G dbPEX substitution exon 1 PEX6_00085 PEX6:c.1553C>A dbPEX substitution exon 1 PEX6_00059 PEX6:c.1646C>T dbPEX substitution exon 1 PEX6_00025 PEX6:c.1688+1G>A dbPEX substitution intron 1 PEX6_00086 PEX6:c.1689-1G>T dbPEX substitution intron 1 PEX6_00087 PEX6:c.1711G>A dbPEX substitution exon 1 PEX6_00031 PEX6:c.1715C>T dbPEX substitution exon 1 PEX6_00088 PEX6:c.1793_1794delAG dbPEX deletion exon 1 PEX6_00018 PEX6:c.1801C>T dbPEX substitution exon 1 PEX6_00006 PEX6:c.1802G>A dbPEX substitution exon 1 PEX6_00089 PEX6:c.1814T>G dbPEX substitution exon 1 PEX6_00090 PEX6:c.1947delG dbPEX deletion exon 1 PEX6_00091 PEX6:c.1958C>G dbPEX substitution exon 1 PEX6_00045 PEX6:c.1961+20G>A dbPEX substitution intron 1 PEX6_00034 PEX6:c.1962-1G>A dbPEX substitution intron 1 PEX6_00092 PEX6:c.1992G>C dbPEX substitution exon 1 PEX6_00093 PEX6:c.2048T>C dbPEX substitution exon 1 PEX6_00032 PEX6:c.2094+2T>C dbPEX substitution intron 1 PEX6_00013 PEX6:c.2095-10_2095-21delCCTTTCACGCAC dbPEX deletion intron 1 PEX6_00094 PEX6:c.2120T>G dbPEX substitution exon 1 PEX6_00033 PEX6:c.2534T>C dbPEX substitution exon 1 PEX6_00095 PEX6:c.2095-2A>G dbPEX substitution intron 1 PEX6_00096 PEX6:c.2207-2217delGACGCTCAGGC dbPEX deletion intron 1 PEX6_00097 PEX6:c.2225T>C dbPEX substitution exon 1 PEX6_00099 PEX6:c.2301-15C>G dbPEX substitution intron 1 PEX6_00100 PEX6:c.2300+28G>A dbPEX substitution intron 1 PEX6_00098 PEX6:c.2301-5C>G dbPEX substitution intron 1 PEX6_00102 PEX6:c.2356C>T dbPEX substitution exon 1 PEX6_00001 PEX6:c.2362G>A dbPEX substitution exon 1 PEX6_00037 PEX6:c.2364G>A dbPEX substitution exon 1 PEX6_00016 PEX6:c.2398_2417delinsT dbPEX complex exon 1 PEX6_00039 PEX6:c.2426C>T dbPEX substitution exon 1 PEX6_00005 PEX6:c.2434C>T dbPEX substitution exon 1 PEX6_00027 PEX6:c.2435G>A dbPEX substitution exon 1 PEX6_00103 PEX6:c.2440C>T dbPEX substitution exon 1 PEX6_00057 PEX6:c.2472-2A>G dbPEX substitution intron 1 PEX6_00104 PEX6:c.2482C>T dbPEX substitution exon 1 PEX6_00060 PEX6:c.2546A>C dbPEX substitution exon 1 PEX6_00009 PEX6:c.2578C>T dbPEX substitution exon 1 PEX6_00015 PEX6:c.2579G>A dbPEX substitution exon 1 PEX6_00105 PEX6:c.2591T>C dbPEX substitution exon 1 PEX6_00106 PEX6:c.2602_2603ins350 dbPEX insertion exon 1 PEX6_00107 PEX6:c.2626C>T dbPEX substitution exon 1 PEX6_00048 PEX6:c.2644G>A dbPEX substitution exon 1 PEX6_00108 PEX6:c.2663G>C dbPEX substitution exon 1 PEX6_00026 PEX6:c.2666+2T>C dbPEX substitution intron 1 PEX6_00109 PEX6:c.2667-2A>G dbPEX substitution intron 1 PEX6_00110 PEX6:c.2726T>A dbPEX substitution exon 1 PEX6_00012 PEX6:c.2735C>T dbPEX substitution exon 1 PEX6_00049 PEX6:c.2770G>T dbPEX substitution exon 1 PEX6_00003 PEX6:c.2788delG dbPEX deletion exon 1 PEX6_00111 PEX6:c.2807-2A>G dbPEX substitution intron 1 PEX6_00040 PEX6:c.2814A>G dbPEX substitution exon 1 PEX6_00041 PEX6:c.2816C>A dbPEX substitution exon 1 PEX6_00050 PEX6:c.2958C>T dbPEX substitution exon 1 PEX7_00038 PEX7:c.-95T>C dbPEX substitution not within known transcription unit 1 PEX7_00027 PEX7:c.-45C>T dbPEX substitution not within known transcription unit 1 PEX7_00031 PEX7:c.12_18dupGTGCGGT dbPEX duplication exon 1 PEX7_00032 PEX7:c.40A>C dbPEX substitution exon 1 PEX7_00030 PEX7:c.45_52delGGGACGCC dbPEX deletion exon 1 PEX7_00036 PEX7:c.45_52dupGGGACGCC dbPEX duplication exon 1 PEX7_00003 PEX7:c.64_65delGC dbPEX deletion exon 1 PEX7_00016 PEX7:c.74C>T dbPEX substitution exon 1 PEX7_00018 PEX7:c.116A>C dbPEX substitution exon 1 PEX7_00011 PEX7:c.120C>G dbPEX substitution exon 1 PEX7_00017 PEX7:c.122G>T dbPEX substitution exon 1 PEX7_00026 PEX7:c.130+1G>A dbPEX substitution intron 1 PEX7_00004 PEX7:c.188+1G>A dbPEX substitution intron 1 PEX7_00005 PEX7:c.188+1G>C dbPEX substitution intron 1 PEX7_00013 PEX7:c.257G>T dbPEX substitution exon 1 PEX7_00033 PEX7:c.329A>G dbPEX substitution exon 1 PEX7_00025 PEX7:c.334C>T dbPEX substitution exon 1 PEX7_00024 PEX7:c.340-10A>G dbPEX substitution intron 1 PEX7_00023 PEX7:c.345T>G dbPEX substitution exon 1 PEX7_00037 PEX7:c.370_396del27 dbPEX deletion exon 1 PEX7_00015 PEX7:c.395C>A dbPEX substitution exon 1 PEX7_00014 PEX7:c.426delA dbPEX deletion exon 1 PEX7_00035 PEX7:c.454A>T dbPEX substitution exon 1 PEX7_00020 PEX7:c.490T>C dbPEX substitution exon 1 PEX7_00021 PEX7:c.508_510delTGT dbPEX deletion exon 1 PEX7_00012 PEX7:c.618G>A dbPEX substitution exon 1 PEX7_00006 PEX7:c.649G>A dbPEX substitution exon 1 PEX7_00007 PEX7:c.653C>T dbPEX substitution exon 1 PEX7_00008 PEX7:c.747+1G>A dbPEX substitution intron 1 PEX7_00029 PEX7:c.773T>C dbPEX substitution exon 1 PEX7_00010 PEX7:c.785C>T dbPEX substitution exon 1 PEX7_00019 PEX7:c.429delT dbPEX deletion exon 1 PEX7_00028 PEX7:c.854A>G dbPEX substitution exon 1 PEX7_00009 PEX7:c.870_871insCAA dbPEX insertion exon 1 PEX7_00001 PEX7:c.875T>A dbPEX substitution exon 1 PEX7_00002 PEX7:c.903+1G>C dbPEX substitution intron 1 PEX7_00034 PEX7:c.917C>T dbPEX substitution exon 1 dbRIP_1000001 NC_000013.10:g.32953500_32953501ins dbRIP insertion exon 1 dbRIP_1000002 NC_000006.11:g.31466228_31466543del dbRIP deletion intron 1 dbRIP_1000003 NC_000006.11:g.30971591_30971592ins dbRIP insertion not within known transcription unit 1 dbRIP_1000004 NC_000006.11:g.29680469_29680470ins dbRIP insertion not within known transcription unit 1 dbRIP_1000005 NC_000006.11:g.29818873_29818874ins dbRIP insertion not within known transcription unit 1 dbRIP_1000006 NC_000024.9:g.17074643_17074942del dbRIP deletion not within known transcription unit 1 dbRIP_1000007 NC_000007.13:g.107767006_107767312del dbRIP deletion intron 1 dbRIP_1000008 NC_000011.9:g.24792957_24792958ins dbRIP insertion intron 1 dbRIP_1000009 NC_000001.10:g.180857566_180857567ins dbRIP insertion exon 1 dbRIP_1000010 NC_000005.9:g.77048360_77048681del dbRIP deletion intron 1 dbRIP_1000011 NC_000017.10:g.6422376_6422690del dbRIP deletion not within known transcription unit 1 dbRIP_1000012 NC_000017.10:g.14417943_14417944ins dbRIP insertion not within known transcription unit 1 dbRIP_1000013 NC_000009.11:g.41843169_41843170ins dbRIP insertion not within known transcription unit 1 dbRIP_1000014 NC_000005.9:g.174760806_174760807ins dbRIP insertion not within known transcription unit 1 dbRIP_1000015 NC_000001.10:g.120610108_120610109ins dbRIP insertion intron 1 dbRIP_1000016 NC_000007.13:g.103856450_103856752del dbRIP deletion not within known transcription unit 1 dbRIP_1000017 NC_000014.8:g.79346301_79346604del dbRIP deletion intron 1 dbRIP_1000018 NC_000008.10:g.72156841_72156842ins dbRIP insertion exon 1 dbRIP_1000019 NC_000023.10:g.49855342_49855343ins dbRIP insertion exon 1 dbRIP_1000020 NC_000006.11:g.141325722_141326033del dbRIP deletion not within known transcription unit 1 dbRIP_1000021 NC_000010.10:g.123276997_123276998ins dbRIP insertion intron 1 dbRIP_1000022 NC_000010.10:g.123276892_123276893ins dbRIP insertion intron 1 dbRIP_1000023 NC_000017.10:g.29663529_29663687del dbRIP deletion exon 1 dbRIP_1000024 NC_000011.9:g.82593539_82593836del dbRIP deletion not within known transcription unit 1 dbRIP_1000025 NC_000012.11:g.59058255_59058559del dbRIP deletion not within known transcription unit 1 dbRIP_1000026 NC_000012.11:g.92465516_92465821del dbRIP deletion not within known transcription unit 1 dbRIP_1000027 NC_000014.8:g.39017984_39018283del dbRIP deletion not within known transcription unit 1 dbRIP_1000028 NC_000016.9:g.26383411_26383732del dbRIP deletion not within known transcription unit 1 dbRIP_1000029 NC_000019.9:g.31017350_31017650del dbRIP deletion intron 1 dbRIP_1000030 NC_000020.10:g.32335140_32335449del dbRIP deletion intron 1 dbRIP_1000031 NC_000010.10:g.35593223_35593539del dbRIP deletion not within known transcription unit 1 dbRIP_1000032 NC_000010.10:g.55958255_55958435del dbRIP deletion intron 1 dbRIP_1000033 NC_000010.10:g.55018745_55018970del dbRIP deletion not within known transcription unit 1 dbRIP_1000034 NC_000010.10:g.26767958_26768247del dbRIP deletion intron 1 dbRIP_1000035 NC_000010.10:g.20667260_20667565del dbRIP deletion not within known transcription unit 1 dbRIP_1000036 NC_000010.10:g.50278016_50278334del dbRIP deletion intron 1 dbRIP_1000037 NC_000010.10:g.57702048_57702374del dbRIP deletion not within known transcription unit 1 dbRIP_1000038 NC_000010.10:g.66268800_66269092del dbRIP deletion not within known transcription unit 1 dbRIP_1000039 NC_000010.10:g.70272111_70272418del dbRIP deletion intron 1 dbRIP_1000040 NC_000010.10:g.71610175_71610176ins dbRIP insertion intron 1 dbRIP_1000041 NC_000010.10:g.74798386_74798683del dbRIP deletion intron 1 dbRIP_1000042 NC_000010.10:g.85601517_85601821del dbRIP deletion not within known transcription unit 1 dbRIP_1000043 NC_000011.9:g.12943743_12944009del dbRIP deletion intron 1 dbRIP_1000044 NC_000011.9:g.16223174_16223478del dbRIP deletion intron 1 dbRIP_1000045 NC_000011.9:g.19555256_19555551del dbRIP deletion intron 1 dbRIP_1000046 NC_000011.9:g.39805128_39805450del dbRIP deletion not within known transcription unit 1 dbRIP_1000047 NC_000011.9:g.25564487_25564813del dbRIP deletion not within known transcription unit 1 dbRIP_1000048 NC_000011.9:g.89932522_89932852del dbRIP deletion not within known transcription unit 1 dbRIP_1000049 NC_000011.9:g.92976352_92976684del dbRIP deletion not within known transcription unit 1 dbRIP_1000050 NC_000011.9:g.97101796_97102111del dbRIP deletion not within known transcription unit 1 dbRIP_1000051 NC_000011.9:g.119719522_119719801del dbRIP deletion not within known transcription unit 1 dbRIP_1000052 NC_000012.11:g.129840698_129841001del dbRIP deletion intron 1 dbRIP_1000053 NC_000012.11:g.23795740_23796038del dbRIP deletion intron 1 dbRIP_1000054 NC_000012.11:g.54853509_54853809del dbRIP deletion intron 1 dbRIP_1000055 NC_000012.11:g.10937775_10938086del dbRIP deletion not within known transcription unit 1 dbRIP_1000056 NC_000012.11:g.23097564_23097879del dbRIP deletion not within known transcription unit 1 dbRIP_1000057 NC_000012.11:g.77908672_77908979del dbRIP deletion not within known transcription unit 1 dbRIP_1000058 NC_000012.11:g.94669348_94669655del dbRIP deletion intron 1 dbRIP_1000059 NC_000012.11:g.95344069_95344366del dbRIP deletion not within known transcription unit 1 dbRIP_1000060 NC_000013.10:g.101906957_101907264del dbRIP deletion intron 1 dbRIP_1000061 NC_000013.10:g.36438421_36438722del dbRIP deletion intron 1 dbRIP_1000062 NC_000013.10:g.23055219_23055513del dbRIP deletion not within known transcription unit 1 dbRIP_1000063 NC_000013.10:g.104009864_104010173del dbRIP deletion not within known transcription unit 1 dbRIP_1000064 NC_000013.10:g.104144391_104144661del dbRIP deletion not within known transcription unit 1 dbRIP_1000065 NC_000013.10:g.31175598_31175920del dbRIP deletion not within known transcription unit 1 dbRIP_1000066 NC_000013.10:g.24710968_24711268del dbRIP deletion not within known transcription unit 1 dbRIP_1000067 NC_000013.10:g.44380323_44380652del dbRIP deletion not within known transcription unit 1 dbRIP_1000068 NC_000013.10:g.49373232_49373549del dbRIP deletion not within known transcription unit 1 dbRIP_1000069 NC_000013.10:g.105161220_105161523del dbRIP deletion not within known transcription unit 1 dbRIP_1000070 NC_000013.10:g.64448599_64448898del dbRIP deletion not within known transcription unit 1 dbRIP_1000071 NC_000013.10:g.40028482_40028791del dbRIP deletion intron 1 dbRIP_1000072 NC_000013.10:g.80081408_80081708del dbRIP deletion intron 1 dbRIP_1000073 NC_000013.10:g.84479042_84479342del dbRIP deletion not within known transcription unit 1 dbRIP_1000074 NC_000013.10:g.87155193_87155489del dbRIP deletion not within known transcription unit 1 dbRIP_1000075 NC_000014.8:g.59545314_59545605del dbRIP deletion not within known transcription unit 1 dbRIP_1000076 NC_000014.8:g.83019617_83019882del dbRIP deletion not within known transcription unit 1 dbRIP_1000077 NC_000014.8:g.100845014_100845330del dbRIP deletion intron 1 dbRIP_1000078 NC_000014.8:g.65527159_65527428del dbRIP deletion intron 1 dbRIP_1000079 NC_000014.8:g.26005813_26006047del dbRIP deletion not within known transcription unit 1 dbRIP_1000080 NC_000014.8:g.52594682_52594980del dbRIP deletion not within known transcription unit 1 dbRIP_1000081 NC_000014.8:g.52756799_52757113del dbRIP deletion not within known transcription unit 1 dbRIP_1000082 NC_000014.8:g.26147115_26147457del dbRIP deletion not within known transcription unit 1 dbRIP_1000083 NC_000014.8:g.66810645_66810941del dbRIP deletion not within known transcription unit 1 dbRIP_1000084 NC_000014.8:g.87555902_87556207del dbRIP deletion not within known transcription unit 1 dbRIP_1000085 NC_000015.9:g.39267017_39267358del dbRIP deletion not within known transcription unit 1 dbRIP_1000086 NC_000015.9:g.56363838_56364142del dbRIP deletion not within known transcription unit 1 dbRIP_1000087 NC_000015.9:g.93515799_93516100del dbRIP deletion intron 1 dbRIP_1000088 NC_000016.9:g.58290920_58291220del dbRIP deletion intron 1 dbRIP_1000089 NC_000016.9:g.19506336_19506635del dbRIP deletion intron 1 dbRIP_1000090 NC_000016.9:g.25623564_25623861del dbRIP deletion not within known transcription unit 1 dbRIP_1000091 NC_000016.9:g.16573811_16574097del dbRIP deletion not within known transcription unit 1 dbRIP_1000092 NC_000016.9:g.72753299_72753597del dbRIP deletion not within known transcription unit 1 dbRIP_1000093 NC_000017.10:g.61565901_61565902ins dbRIP insertion intron 1 dbRIP_1000094 NC_000017.10:g.14747551_14747853del dbRIP deletion not within known transcription unit 1 dbRIP_1000095 NC_000017.10:g.12196593_12196896del dbRIP deletion not within known transcription unit 1 dbRIP_1000096 NC_000017.10:g.64930555_64930856del dbRIP deletion not within known transcription unit 1 dbRIP_1000097 NC_000017.10:g.67087667_67087962del dbRIP deletion intron 1 dbRIP_1000098 NC_000017.10:g.13220499_13220804del dbRIP deletion not within known transcription unit 1 dbRIP_1000099 NC_000017.10:g.80589159_80589460del dbRIP deletion intron 1 dbRIP_1000100 NC_000017.10:g.68159940_68160257del dbRIP deletion not within known transcription unit 1 dbRIP_1000101 NC_000017.10:g.74046825_74046826ins dbRIP insertion intron 1 dbRIP_1000102 NC_000018.9:g.69896775_69897075del dbRIP deletion not within known transcription unit 1 dbRIP_1000103 NC_000018.9:g.11971930_11972237del dbRIP deletion not within known transcription unit 1 dbRIP_1000104 NC_000019.9:g.51457477_51457784del dbRIP deletion not within known transcription unit 1 dbRIP_1000105 NC_000019.9:g.20176730_20177026del dbRIP deletion not within known transcription unit 1 dbRIP_1000106 NC_000019.9:g.53820803_53821104del dbRIP deletion not within known transcription unit 1 dbRIP_1000107 NC_000019.9:g.23320804_23321105del dbRIP deletion not within known transcription unit 1 dbRIP_1000108 NC_000020.10:g.35815624_35815921del dbRIP deletion not within known transcription unit 1 dbRIP_1000109 NC_000020.10:g.37139271_37139569del dbRIP deletion intron 1 dbRIP_1000110 NC_000020.10:g.14529082_14529382del dbRIP deletion intron 1 dbRIP_1000111 NC_000020.10:g.33115832_33116144del dbRIP deletion intron 1 dbRIP_1000112 NC_000020.10:g.7274351_7274649del dbRIP deletion not within known transcription unit 1 dbRIP_1000113 NC_000020.10:g.60526303_60526593del dbRIP deletion not within known transcription unit 1 dbRIP_1000114 NC_000020.10:g.19061431_19061729del dbRIP deletion not within known transcription unit 1 dbRIP_1000115 NC_000021.8:g.24742247_24742546del dbRIP deletion not within known transcription unit 1 dbRIP_1000116 NC_000021.8:g.17522224_17522540del dbRIP deletion intron 1 dbRIP_1000117 NC_000022.10:g.18099533_18099826del dbRIP deletion intron 1 dbRIP_1000118 NC_000022.10:g.17884244_17884561del dbRIP deletion not within known transcription unit 1 dbRIP_1000119 NC_000012.11:g.90846389_90846579del dbRIP deletion not within known transcription unit 1 dbRIP_1000120 NC_000013.10:g.72956725_72957024del dbRIP deletion not within known transcription unit 1 dbRIP_1000121 NC_000013.10:g.69966668_69966961del dbRIP deletion not within known transcription unit 1 dbRIP_1000122 NC_000013.10:g.89003284_89003606del dbRIP deletion not within known transcription unit 1 dbRIP_1000123 NC_000022.10:g.16353465_16353466ins dbRIP insertion not within known transcription unit 1 dbRIP_1000124 NC_000014.8:g.59894371_59894372ins dbRIP insertion not within known transcription unit 1 dbRIP_1000125 NC_000014.8:g.87858065_87858383del dbRIP deletion not within known transcription unit 1 dbRIP_1000126 NC_000015.9:g.69189326_69189327ins dbRIP insertion not within known transcription unit 1 dbRIP_1000127 NC_000016.9:g.33052941_33053237del dbRIP deletion not within known transcription unit 1 dbRIP_1000128 NC_000018.9:g.27629691_27630006del dbRIP deletion not within known transcription unit 1 dbRIP_1000129 NC_000018.9:g.50925993_50926300del dbRIP deletion intron 1 dbRIP_1000130 NC_000018.9:g.45996161_45996460del dbRIP deletion not within known transcription unit 1 dbRIP_1000131 NC_000018.9:g.55671137_55671428del dbRIP deletion not within known transcription unit 1 dbRIP_1000132 NC_000020.10:g.30899236_30899534del dbRIP deletion intron 1 dbRIP_1000133 NC_000020.10:g.6150954_6151279del dbRIP deletion not within known transcription unit 1 dbRIP_1000134 NC_000020.10:g.45127532_45127839del dbRIP deletion not within known transcription unit 1 dbRIP_1000135 NC_000021.8:g.47387673_47387972del dbRIP deletion not within known transcription unit 1 dbRIP_1000136 NC_000021.8:g.14580446_14580750del dbRIP deletion not within known transcription unit 1 dbRIP_1000137 NC_000001.10:g.59059627_59059941del dbRIP deletion not within known transcription unit 1 dbRIP_1000138 NC_000001.10:g.231303078_231303367del dbRIP deletion intron 1 dbRIP_1000139 NC_000001.10:g.116471120_116471422del dbRIP deletion not within known transcription unit 1 dbRIP_1000140 NC_000001.10:g.80114186_80114489del dbRIP deletion not within known transcription unit 1 dbRIP_1000141 NC_000001.10:g.86882448_86882752del dbRIP deletion not within known transcription unit 1 dbRIP_1000142 NC_000001.10:g.210962029_210962337del dbRIP deletion intron 1 dbRIP_1000143 NC_000002.11:g.215771525_215771826del dbRIP deletion not within known transcription unit 1 dbRIP_1000144 NC_000002.11:g.218546159_218546456del dbRIP deletion intron 1 dbRIP_1000145 NC_000002.11:g.50708901_50709205del dbRIP deletion intron 1 dbRIP_1000146 NC_000002.11:g.107926397_107926722del dbRIP deletion not within known transcription unit 1 dbRIP_1000147 NC_000002.11:g.231996196_231996500del dbRIP deletion not within known transcription unit 1 dbRIP_1000148 NC_000002.11:g.174151745_174152045del dbRIP deletion not within known transcription unit 1 dbRIP_1000149 NC_000002.11:g.194398509_194398833del dbRIP deletion not within known transcription unit 1 dbRIP_1000150 NC_000003.11:g.17948554_17948858del dbRIP deletion not within known transcription unit 1 dbRIP_1000151 NC_000003.11:g.59125234_59125549del dbRIP deletion not within known transcription unit 1 dbRIP_1000152 NC_000003.11:g.127330531_127330843del dbRIP deletion intron 1 dbRIP_1000153 NC_000003.11:g.154648374_154648679del dbRIP deletion not within known transcription unit 1 dbRIP_1000154 NC_000003.11:g.176143033_176143034ins dbRIP insertion not within known transcription unit 1 dbRIP_1000155 NC_000004.11:g.59607606_59607909del dbRIP deletion not within known transcription unit 1 dbRIP_1000156 NC_000004.11:g.66755391_66755655del dbRIP deletion not within known transcription unit 1 dbRIP_1000157 NC_000004.11:g.263969_264238del dbRIP deletion downstream 1 dbRIP_1000158 NC_000004.11:g.98181278_98181582del dbRIP deletion not within known transcription unit 1 dbRIP_1000159 NC_000010.10:g.60984922_60984923ins dbRIP insertion intron 1 dbRIP_1000160 NC_000004.11:g.141926941_141927241del dbRIP deletion intron 1 dbRIP_1000161 NC_000004.11:g.166895289_166895589del dbRIP deletion intron 1 dbRIP_1000162 NC_000005.9:g.125400000_125400301del dbRIP deletion not within known transcription unit 1 dbRIP_1000163 NC_000005.9:g.131960240_131960592del dbRIP deletion intron 1 dbRIP_1000164 NC_000005.9:g.22796626_22796928del dbRIP deletion intron 1 dbRIP_1000165 NC_000005.9:g.168394446_168394743del dbRIP deletion intron 1 dbRIP_1000166 NC_000005.9:g.109297107_109297408del dbRIP deletion not within known transcription unit 1 dbRIP_1000167 NC_000005.9:g.133762623_133762917del dbRIP deletion not within known transcription unit 1 dbRIP_1000168 NC_000006.11:g.12664204_12664510del dbRIP deletion not within known transcription unit 1 dbRIP_1000169 NC_000006.11:g.89424167_89424460del dbRIP deletion intron 1 dbRIP_1000170 NC_000006.11:g.105221966_105222264del dbRIP deletion intron 1 dbRIP_1000171 NC_000006.11:g.119596450_119596769del dbRIP deletion intron 1 dbRIP_1000172 NC_000006.11:g.65185163_65185466del dbRIP deletion intron 1 dbRIP_1000173 NC_000006.11:g.67235276_67235605del dbRIP deletion not within known transcription unit 1 dbRIP_1000174 NC_000006.11:g.74263883_74264203del dbRIP deletion not within known transcription unit 1 dbRIP_1000175 NC_000006.11:g.95573693_95574002del dbRIP deletion not within known transcription unit 1 dbRIP_1000176 NC_000007.13:g.93958344_93958644del dbRIP deletion not within known transcription unit 1 dbRIP_1000177 NC_000007.13:g.141196226_141196489del dbRIP deletion not within known transcription unit 1 dbRIP_1000178 NC_000007.13:g.39870047_39870344del dbRIP deletion not within known transcription unit 1 dbRIP_1000179 NC_000007.13:g.42647661_42647662ins dbRIP insertion not within known transcription unit 1 dbRIP_1000180 NC_000008.10:g.64144875_64145115del dbRIP deletion not within known transcription unit 1 dbRIP_1000181 NC_000008.10:g.87896098_87896413del dbRIP deletion intron 1 dbRIP_1000182 NC_000008.10:g.99356836_99357145del dbRIP deletion not within known transcription unit 1 dbRIP_1000183 NC_000008.10:g.97588648_97588946del dbRIP deletion intron 1 dbRIP_1000184 NC_000001.10:g.70768128_70768434del dbRIP deletion intron 1 dbRIP_1000185 NC_000001.10:g.225344414_225344716del dbRIP deletion intron 1 dbRIP_1000186 NC_000001.10:g.78543591_78543895del dbRIP deletion intron 1 dbRIP_1000187 NC_000001.10:g.158712047_158712353del dbRIP deletion not within known transcription unit 1 dbRIP_1000188 NC_000001.10:g.169160037_169160349del dbRIP deletion intron 1 dbRIP_1000189 NC_000001.10:g.185766817_185767126del dbRIP deletion intron 1 dbRIP_1000190 NC_000001.10:g.115796900_115797172del dbRIP deletion not within known transcription unit 1 dbRIP_1000191 NC_000001.10:g.77100376_77100649del dbRIP deletion not within known transcription unit 1 dbRIP_1000192 NC_000002.11:g.36955674_36955976del dbRIP deletion intron 1 dbRIP_1000193 NC_000002.11:g.96359724_96360034del dbRIP deletion not within known transcription unit 1 dbRIP_1000194 NC_000002.11:g.213574687_213574977del dbRIP deletion not within known transcription unit 1 dbRIP_1000195 NC_000002.11:g.115672427_115672728del dbRIP deletion not within known transcription unit 1 dbRIP_1000196 NC_000002.11:g.240958955_240959261del dbRIP deletion intron 1 dbRIP_1000197 NC_000002.11:g.77976785_77977091del dbRIP deletion not within known transcription unit 1 dbRIP_1000198 NC_000002.11:g.87326662_87326982del dbRIP deletion not within known transcription unit 1 dbRIP_1000199 NC_000002.11:g.99752981_99753300del dbRIP deletion intron 1 dbRIP_1000200 NC_000002.11:g.36090523_36090827del dbRIP deletion not within known transcription unit 1 dbRIP_1000201 NC_000002.11:g.150626986_150627294del dbRIP deletion not within known transcription unit 1 dbRIP_1000202 NC_000002.11:g.74125491_74125492ins dbRIP insertion intron 1 dbRIP_1000203 NC_000002.11:g.175090641_175090945del dbRIP deletion intron 1 dbRIP_1000204 NC_000002.11:g.196736428_196736690del dbRIP deletion intron 1 dbRIP_1000205 NC_000003.11:g.190290649_190290937del dbRIP deletion intron 1 dbRIP_1000206 NC_000003.11:g.17731701_17732007del dbRIP deletion intron 1 dbRIP_1000207 NC_000003.11:g.72379727_72380006del dbRIP deletion not within known transcription unit 1 dbRIP_1000208 NC_000003.11:g.81346083_81346380del dbRIP deletion not within known transcription unit 1 dbRIP_1000209 NC_000003.11:g.103547923_103548231del dbRIP deletion not within known transcription unit 1 dbRIP_1000210 NC_000003.11:g.189955421_189955709del dbRIP deletion not within known transcription unit 1 dbRIP_1000211 NC_000003.11:g.68890216_68890495del dbRIP deletion intron 1 dbRIP_1000212 NC_000003.11:g.50063021_50063022ins dbRIP insertion intron 1 dbRIP_1000213 NC_000009.11:g.107400989_107401288del dbRIP deletion not within known transcription unit 1 dbRIP_1000214 NC_000004.11:g.181549441_181549742del dbRIP deletion not within known transcription unit 1 dbRIP_1000215 NC_000004.11:g.113469989_113470281del dbRIP deletion intron 1 dbRIP_1000216 NC_000004.11:g.42088057_42088058ins dbRIP insertion intron 1 dbRIP_1000217 NC_000004.11:g.137943840_137944132del dbRIP deletion not within known transcription unit 1 dbRIP_1000218 NC_000005.9:g.12186501_12186791del dbRIP deletion not within known transcription unit 1 dbRIP_1000219 NC_000005.9:g.71916562_71916852del dbRIP deletion not within known transcription unit 1 dbRIP_1000220 NC_000005.9:g.21651584_21651891del dbRIP deletion not within known transcription unit 1 dbRIP_1000221 NC_000005.9:g.82906076_82906378del dbRIP deletion not within known transcription unit 1 dbRIP_1000222 NC_000005.9:g.88043155_88043466del dbRIP deletion intron 1 dbRIP_1000223 NC_000005.9:g.103062317_103062622del dbRIP deletion not within known transcription unit 1 dbRIP_1000224 NC_000005.9:g.142935381_142935678del dbRIP deletion not within known transcription unit 1 dbRIP_1000225 NC_000006.11:g.25898000_25898300del dbRIP deletion not within known transcription unit 1 dbRIP_1000226 NC_000006.11:g.50452479_50452795del dbRIP deletion not within known transcription unit 1 dbRIP_1000227 NC_000006.11:g.129737090_129737384del dbRIP deletion intron 1 dbRIP_1000228 NC_000006.11:g.138947749_138948055del dbRIP deletion not within known transcription unit 1 dbRIP_1000229 NC_000006.11:g.20765379_20765686del dbRIP deletion intron 1 dbRIP_1000230 NC_000006.11:g.157957857_157958149del dbRIP deletion intron 1 dbRIP_1000231 NC_000007.13:g.86717304_86717605del dbRIP deletion not within known transcription unit 1 dbRIP_1000232 NC_000007.13:g.144046258_144046577del dbRIP deletion not within known transcription unit 1 dbRIP_1000233 NC_000007.13:g.78357862_78358180del dbRIP deletion intron 1 dbRIP_1000234 NC_000007.13:g.43414121_43414413del dbRIP deletion intron 1 dbRIP_1000235 NC_000007.13:g.96894748_96894973del dbRIP deletion not within known transcription unit 1 dbRIP_1000236 NC_000007.13:g.83709879_83710187del dbRIP deletion intron 1 dbRIP_1000237 NC_000007.13:g.38508473_38508787del dbRIP deletion intron 1 dbRIP_1000238 NC_000007.13:g.127620166_127620472del dbRIP deletion intron 1 dbRIP_1000239 NC_000007.13:g.12024245_12024499del dbRIP deletion not within known transcription unit 1 dbRIP_1000240 NC_000007.13:g.39592071_39592371del dbRIP deletion not within known transcription unit 1 dbRIP_1000241 NC_000007.13:g.136851626_136851924del dbRIP deletion not within known transcription unit 1 dbRIP_1000242 NC_000007.13:g.135189216_135189533del dbRIP deletion intron 1 dbRIP_1000243 NC_000007.13:g.113953519_113953813del dbRIP deletion not within known transcription unit 1 dbRIP_1000244 NC_000007.13:g.120881116_120881434del dbRIP deletion intron 1 dbRIP_1000245 NC_000007.13:g.24677943_24678248del dbRIP deletion intron 1 dbRIP_1000246 NC_000007.13:g.27514350_27514610del dbRIP deletion not within known transcription unit 1 dbRIP_1000247 NC_000007.13:g.76567225_76567226ins dbRIP insertion not within known transcription unit 1 dbRIP_1000248 NC_000008.10:g.61204998_61205303del dbRIP deletion not within known transcription unit 1 dbRIP_1000249 NC_000009.11:g.35803109_35803399del dbRIP deletion intron 1 dbRIP_1000250 NC_000001.10:g.241360554_241360852del dbRIP deletion intron 1 dbRIP_1000251 NC_000001.10:g.239426268_239426269ins dbRIP insertion not within known transcription unit 1 dbRIP_1000252 NC_000001.10:g.77764995_77764996ins dbRIP insertion intron 1 dbRIP_1000253 NC_000001.10:g.89115733_89115734ins dbRIP insertion not within known transcription unit 1 dbRIP_1000254 NC_000001.10:g.150691452_150691770del dbRIP deletion intron 1 dbRIP_1000255 NC_000001.10:g.162052681_162052985del dbRIP deletion intron 1 dbRIP_1000256 NC_000001.10:g.210295321_210295622del dbRIP deletion intron 1 dbRIP_1000257 NC_000001.10:g.218785931_218786233del dbRIP deletion not within known transcription unit 1 dbRIP_1000258 NC_000002.11:g.206731200_206731505del dbRIP deletion not within known transcription unit 1 dbRIP_1000259 NC_000002.11:g.208567225_208567530del dbRIP deletion not within known transcription unit 1 dbRIP_1000260 NC_000002.11:g.28353953_28354247del dbRIP deletion intron 1 dbRIP_1000261 NC_000002.11:g.39071491_39071819del dbRIP deletion intron 1 dbRIP_1000262 NC_000002.11:g.114197453_114197760del dbRIP deletion intron 1 dbRIP_1000263 NC_000002.11:g.56083543_56083843del dbRIP deletion not within known transcription unit 1 dbRIP_1000264 NC_000002.11:g.134460280_134460571del dbRIP deletion not within known transcription unit 1 dbRIP_1000265 NC_000002.11:g.41942600_41942915del dbRIP deletion not within known transcription unit 1 dbRIP_1000266 NC_000002.11:g.161795611_161795924del dbRIP deletion not within known transcription unit 1 dbRIP_1000267 NC_000002.11:g.169395478_169395774del dbRIP deletion intron 1 dbRIP_1000268 NC_000002.11:g.166267524_166267832del dbRIP deletion not within known transcription unit 1 dbRIP_1000269 NC_000002.11:g.184249982_184250309del dbRIP deletion not within known transcription unit 1 dbRIP_1000270 NC_000003.11:g.123236758_123237061del dbRIP deletion intron 1 dbRIP_1000271 NC_000003.11:g.23086852_23087134del dbRIP deletion not within known transcription unit 1 dbRIP_1000272 NC_000003.11:g.125489416_125489713del dbRIP deletion not within known transcription unit 1 VAR_053340 Q9NYW7:p.Cys141Tyr SP substitution exon 1 dbRIP_1000273 NC_000003.11:g.49494288_49494605del dbRIP deletion not within known transcription unit 1 dbRIP_1000274 NC_000004.11:g.184303704_184304009del dbRIP deletion not within known transcription unit 1 dbRIP_1000275 NC_000004.11:g.95498973_95499280del dbRIP deletion intron 1 dbRIP_1000276 NC_000004.11:g.100070305_100070604del dbRIP deletion not within known transcription unit 1 dbRIP_1000277 NC_000004.11:g.111383222_111383532del dbRIP deletion not within known transcription unit 1 dbRIP_1000278 NC_000004.11:g.117251488_117251797del dbRIP deletion not within known transcription unit 1 dbRIP_1000279 NC_000004.11:g.120017253_120017555del dbRIP deletion not within known transcription unit 1 dbRIP_1000280 NC_000005.9:g.13895093_13895379del dbRIP deletion intron 1 dbRIP_1000281 NC_000005.9:g.65346049_65346372del dbRIP deletion intron 1 dbRIP_1000282 NC_000005.9:g.78092705_78093000del dbRIP deletion not within known transcription unit 1 dbRIP_1000283 NC_000005.9:g.73648997_73649303del dbRIP deletion not within known transcription unit 1 dbRIP_1000284 NC_000005.9:g.53176942_53177233del dbRIP deletion not within known transcription unit 1 dbRIP_1000285 NC_000005.9:g.164366313_164366608del dbRIP deletion not within known transcription unit 1 dbRIP_1000286 NC_000006.11:g.108266122_108266415del dbRIP deletion intron 1 dbRIP_1000287 NC_000006.11:g.62053995_62054299del dbRIP deletion not within known transcription unit 1 dbRIP_1000288 NC_000006.11:g.9263737_9263985del dbRIP deletion not within known transcription unit 1 dbRIP_1000289 NC_000006.11:g.124498923_124499229del dbRIP deletion intron 1 dbRIP_1000290 NC_000006.11:g.105567854_105568172del dbRIP deletion intron 1 dbRIP_1000291 NC_000006.11:g.11903453_11903748del dbRIP deletion not within known transcription unit 1 dbRIP_1000292 NC_000006.11:g.134817361_134817662del dbRIP deletion not within known transcription unit 1 dbRIP_1000293 NC_000006.11:g.32503949_32504023del dbRIP deletion not within known transcription unit 1 dbRIP_1000294 NC_000006.11:g.22227485_22227754del dbRIP deletion not within known transcription unit 1 dbRIP_1000295 NC_000006.11:g.51517364_51517675del dbRIP deletion intron 1 dbRIP_1000296 NC_000006.11:g.74421263_74421559del dbRIP deletion intron 1 dbRIP_1000297 NC_000006.11:g.32657953_32657954ins dbRIP insertion not within known transcription unit 1 dbRIP_1000298 NC_000006.11:g.169223151_169223457del dbRIP deletion not within known transcription unit 1 dbRIP_1000299 NC_000007.13:g.34849070_34849416del dbRIP deletion intron 1 dbRIP_1000300 NC_000007.13:g.38281642_38281951del dbRIP deletion not within known transcription unit 1 dbRIP_1000301 NC_000007.13:g.81002855_81003150del dbRIP deletion not within known transcription unit 1 dbRIP_1000302 NC_000007.13:g.29273445_29273745del dbRIP deletion intron 1 dbRIP_1000303 NC_000007.13:g.113258472_113258790del dbRIP deletion not within known transcription unit 1 dbRIP_1000304 NC_000007.13:g.7717290_7717604del dbRIP deletion intron 1 dbRIP_1000305 NC_000007.13:g.110542699_110543009del dbRIP deletion intron 1 dbRIP_1000306 NC_000007.13:g.118343816_118344155del dbRIP deletion not within known transcription unit 1 dbRIP_1000307 NC_000007.13:g.33898857_33899172del dbRIP deletion not within known transcription unit 1 dbRIP_1000308 NC_000004.11:g.133114054_133114359del dbRIP deletion not within known transcription unit 1 dbRIP_1000309 NC_000007.13:g.68462084_68462389del dbRIP deletion not within known transcription unit 1 dbRIP_1000310 NC_000007.13:g.25044614_25044930del dbRIP deletion not within known transcription unit 1 dbRIP_1000311 NC_000008.10:g.126024112_126024113ins dbRIP insertion intron 1 dbRIP_1000312 NC_000008.10:g.15001280_15001586del dbRIP deletion not within known transcription unit 1 dbRIP_1000313 NC_000009.11:g.21918070_21918371del dbRIP deletion not within known transcription unit 1 dbRIP_1000314 NC_000009.11:g.26512939_26513242del dbRIP deletion not within known transcription unit 1 dbRIP_1000315 NC_000004.11:g.107419800_107420096del dbRIP deletion not within known transcription unit 1 dbRIP_1000316 NC_000013.10:g.39499638_39499639ins dbRIP insertion not within known transcription unit 1 dbRIP_1000317 NC_000001.10:g.66135721_66136043del dbRIP deletion not within known transcription unit 1 dbRIP_1000318 NC_000019.9:g.22768158_22768470del dbRIP deletion not within known transcription unit 1 dbRIP_1000319 NC_000019.9:g.51860646_51860647ins dbRIP insertion intron 1 dbRIP_1000320 NC_000019.9:g.57111561_57111864del dbRIP deletion intron 1 dbRIP_1000321 NC_000001.10:g.197011667_197011963del dbRIP deletion intron 1 dbRIP_1000322 NC_000003.11:g.178111046_178111047ins dbRIP insertion not within known transcription unit 1 dbRIP_1000323 NC_000006.11:g.12099422_12099698del dbRIP deletion intron 1 dbRIP_1000324 NC_000001.10:g.114385442_114385732del dbRIP deletion intron 1 dbRIP_1000325 NC_000012.11:g.13017649_13017948del dbRIP deletion not within known transcription unit 1 dbRIP_1000326 NC_000005.9:g.9777994_9778290del dbRIP deletion intron 1 dbRIP_1000327 NC_000008.10:g.42039907_42039908ins dbRIP insertion intron 1 dbRIP_1000328 NC_000019.9:g.40099383_40099679del dbRIP deletion not within known transcription unit 1 dbRIP_1000329 NC_000011.9:g.29748286_29748603del dbRIP deletion not within known transcription unit 1 dbRIP_1000330 NC_000014.8:g.81092527_81092837del dbRIP deletion intron 1 dbRIP_1000331 NC_000010.10:g.4634812_4635120del dbRIP deletion not within known transcription unit 1 dbRIP_1000332 NC_000010.10:g.20132017_20132018ins dbRIP insertion intron 1 dbRIP_1000333 NC_000010.10:g.25035192_25035282del dbRIP deletion not within known transcription unit 1 dbRIP_1000334 NC_000010.10:g.25098090_25098419del dbRIP deletion not within known transcription unit 1 dbRIP_1000335 NC_000010.10:g.29102529_29102530ins dbRIP insertion not within known transcription unit 1 dbRIP_1000336 NC_000010.10:g.33492655_33492929del dbRIP deletion intron 1 dbRIP_1000337 NC_000010.10:g.34684484_34684793del dbRIP deletion intron 1 dbRIP_1000338 NC_000010.10:g.47088386_47088703del dbRIP deletion downstream 1 dbRIP_1000339 NC_000010.10:g.49917171_49917479del dbRIP deletion intron 1 dbRIP_1000340 NC_000010.10:g.54441210_54441514del dbRIP deletion not within known transcription unit 1 dbRIP_1000341 NC_000010.10:g.56517039_56517340del dbRIP deletion intron 1 dbRIP_1000342 NC_000010.10:g.57974634_57974635ins dbRIP insertion not within known transcription unit 1 dbRIP_1000343 NC_000010.10:g.78800912_78801217del dbRIP deletion intron 1 dbRIP_1000344 NC_000010.10:g.84400773_84400905del dbRIP deletion intron 1 dbRIP_1000345 NC_000010.10:g.85626233_85626424del dbRIP deletion not within known transcription unit 1 dbRIP_1000346 NC_000010.10:g.99108292_99108608del dbRIP deletion not within known transcription unit 1 dbRIP_1000347 NC_000010.10:g.105097540_105097836del dbRIP deletion intron 1 dbRIP_1000348 NC_000010.10:g.107891548_107891549ins dbRIP insertion not within known transcription unit 1 dbRIP_1000349 NC_000010.10:g.115509133_115509432del dbRIP deletion not within known transcription unit 1 dbRIP_1000350 NC_000010.10:g.115861732_115862030del dbRIP deletion not within known transcription unit 1 dbRIP_1000351 NC_000010.10:g.118265325_118265632del dbRIP deletion not within known transcription unit 1 dbRIP_1000352 NC_000010.10:g.123489189_123489494del dbRIP deletion not within known transcription unit 1 dbRIP_1000353 NC_000010.10:g.128106486_128106786del dbRIP deletion not within known transcription unit 1 dbRIP_1000354 NC_000010.10:g.129190308_129190309ins dbRIP insertion intron 1 dbRIP_1000355 NC_000010.10:g.133449095_133449408del dbRIP deletion not within known transcription unit 1 dbRIP_1000356 NC_000011.9:g.4802536_4802832del dbRIP deletion not within known transcription unit 1 dbRIP_1000357 NC_000011.9:g.5106969_5107211del dbRIP deletion not within known transcription unit 1 dbRIP_1000358 NC_000011.9:g.7716916_7717219del dbRIP deletion exon 1 dbRIP_1000359 NC_000011.9:g.9794587_9794899del dbRIP deletion not within known transcription unit 1 dbRIP_1000360 NC_000011.9:g.14348325_14348626del dbRIP deletion not within known transcription unit 1 dbRIP_1000361 NC_000011.9:g.16597579_16597886del dbRIP deletion not within known transcription unit 1 dbRIP_1000362 NC_000011.9:g.32286654_32286973del dbRIP deletion not within known transcription unit 1 dbRIP_1000363 NC_000011.9:g.37962063_37962365del dbRIP deletion not within known transcription unit 1 dbRIP_1000364 NC_000011.9:g.42464107_42464409del dbRIP deletion not within known transcription unit 1 dbRIP_1000365 NC_000011.9:g.43462666_43462667ins dbRIP insertion intron 1 dbRIP_1000366 NC_000011.9:g.43891845_43892165del dbRIP deletion not within known transcription unit 1 dbRIP_1000367 NC_000011.9:g.49425098_49425416del dbRIP deletion not within known transcription unit 1 dbRIP_1000368 NC_000011.9:g.61890322_61890394del dbRIP deletion not within known transcription unit 1 dbRIP_1000369 NC_000011.9:g.81556184_81556538del dbRIP deletion not within known transcription unit 1 dbRIP_1000370 NC_000011.9:g.92246007_92246301del dbRIP deletion intron 1 dbRIP_1000371 NC_000011.9:g.92608479_92608480ins dbRIP insertion intron 1 dbRIP_1000372 NC_000011.9:g.96614774_96615086del dbRIP deletion not within known transcription unit 1 dbRIP_1000373 NC_000011.9:g.103087945_103088090del dbRIP deletion intron 1 dbRIP_1000374 NC_000011.9:g.103410832_103411134del dbRIP deletion not within known transcription unit 1 dbRIP_1000375 NC_000011.9:g.104010484_104010826del dbRIP deletion intron 1 dbRIP_1000376 NC_000011.9:g.105765522_105765824del dbRIP deletion intron 1 dbRIP_1000377 NC_000011.9:g.106595881_106596164del dbRIP deletion intron 1 dbRIP_1000378 NC_000011.9:g.124830152_124830246del dbRIP deletion intron 1 dbRIP_1000379 NC_000011.9:g.132558595_132558874del dbRIP deletion intron 1 dbRIP_1000380 NC_000012.11:g.5769603_5769604ins dbRIP insertion intron 1 dbRIP_1000381 NC_000012.11:g.10234204_10234205ins dbRIP insertion intron 1 dbRIP_1000382 NC_000012.11:g.42482700_42482701ins dbRIP insertion intron 1 dbRIP_1000383 NC_000012.11:g.45419546_45419547ins dbRIP insertion intron 1 dbRIP_1000384 NC_000012.11:g.47075367_47075698del dbRIP deletion not within known transcription unit 1 dbRIP_1000385 NC_000012.11:g.54245422_54245696del dbRIP deletion not within known transcription unit 1 dbRIP_1000386 NC_000012.11:g.65397292_65397293ins dbRIP insertion not within known transcription unit 1 dbRIP_1000387 NC_000012.11:g.76298944_76299244del dbRIP deletion not within known transcription unit 1 dbRIP_1000388 NC_000012.11:g.84042285_84042582del dbRIP deletion not within known transcription unit 1 dbRIP_1000389 NC_000012.11:g.86523326_86523636del dbRIP deletion intron 1 dbRIP_1000390 NC_000012.11:g.88338172_88338173ins dbRIP insertion not within known transcription unit 1 dbRIP_1000391 NC_000012.11:g.94358345_94358640del dbRIP deletion not within known transcription unit 1 dbRIP_1000392 NC_000012.11:g.96705364_96705365ins dbRIP insertion intron 1 dbRIP_1000393 NC_000012.11:g.102314081_102314162del dbRIP deletion intron 1 dbRIP_1000394 NC_000012.11:g.104293408_104293724del dbRIP deletion intron 1 dbRIP_1000395 NC_000012.11:g.123010352_123010668del dbRIP deletion intron 1 dbRIP_1000396 NC_000012.11:g.126905117_126905415del dbRIP deletion not within known transcription unit 1 dbRIP_1000397 NC_000012.11:g.127199964_127200287del dbRIP deletion not within known transcription unit 1 dbRIP_1000398 NC_000012.11:g.127660443_127660752del dbRIP deletion not within known transcription unit 1 dbRIP_1000399 NC_000012.11:g.130060304_130060618del dbRIP deletion intron 1 dbRIP_1000400 NC_000013.10:g.21730918_21731223del dbRIP deletion intron 1 dbRIP_1000401 NC_000013.10:g.22523532_22523848del dbRIP deletion not within known transcription unit 1 dbRIP_1000402 NC_000013.10:g.24057657_24057973del dbRIP deletion not within known transcription unit 1 dbRIP_1000403 NC_000013.10:g.24069369_24069660del dbRIP deletion not within known transcription unit 1 dbRIP_1000404 NC_000013.10:g.29891573_29891874del dbRIP deletion intron 1 dbRIP_1000405 NC_000013.10:g.29954772_29955081del dbRIP deletion intron 1 dbRIP_1000406 NC_000013.10:g.42155117_42155437del dbRIP deletion intron 1 dbRIP_1000407 NC_000013.10:g.74074922_74075239del dbRIP deletion not within known transcription unit 1 dbRIP_1000408 NC_000013.10:g.79661082_79661402del dbRIP deletion not within known transcription unit 1 dbRIP_1000409 NC_000013.10:g.80199094_80199095ins dbRIP insertion not within known transcription unit 1 dbRIP_1000410 NC_000013.10:g.82889212_82889537del dbRIP deletion not within known transcription unit 1 dbRIP_1000411 NC_000013.10:g.90421384_90421520del dbRIP deletion not within known transcription unit 1 dbRIP_1000412 NC_000013.10:g.90550562_90550563ins dbRIP insertion not within known transcription unit 1 dbRIP_1000413 NC_000013.10:g.92279265_92279583del dbRIP deletion intron 1 dbRIP_1000414 NC_000013.10:g.98694755_98695060del dbRIP deletion not within known transcription unit 1 dbRIP_1000415 NC_000013.10:g.103931653_103931958del dbRIP deletion not within known transcription unit 1 dbRIP_1000416 NC_000014.8:g.21536145_21536457del dbRIP deletion not within known transcription unit 1 dbRIP_1000417 NC_000014.8:g.26701619_26701918del dbRIP deletion not within known transcription unit 1 dbRIP_1000418 NC_000014.8:g.40592445_40592446ins dbRIP insertion not within known transcription unit 1 dbRIP_1000419 NC_000014.8:g.42486336_42486636del dbRIP deletion not within known transcription unit 1 dbRIP_1000420 NC_000014.8:g.48826823_48827135del dbRIP deletion not within known transcription unit 1 dbRIP_1000421 NC_000014.8:g.49958457_49958594del dbRIP deletion not within known transcription unit 1 dbRIP_1000422 NC_000014.8:g.68377013_68377156del dbRIP deletion intron 1 dbRIP_1000423 NC_000014.8:g.71437837_71438160del dbRIP deletion intron 1 dbRIP_1000424 NC_000014.8:g.79653938_79654025del dbRIP deletion intron 1 dbRIP_1000425 NC_000015.9:g.39520114_39520442del dbRIP deletion not within known transcription unit 1 dbRIP_1000426 NC_000015.9:g.42017749_42018067del dbRIP deletion intron 1 dbRIP_1000427 NC_000015.9:g.43660442_43660753del dbRIP deletion intron 1 dbRIP_1000428 NC_000015.9:g.46067981_46068315del dbRIP deletion not within known transcription unit 1 dbRIP_1000429 NC_000015.9:g.51897717_51898040del dbRIP deletion intron 1 dbRIP_1000430 NC_000015.9:g.64633194_64633503del dbRIP deletion intron 1 dbRIP_1000431 NC_000015.9:g.81392587_81392588ins dbRIP insertion not within known transcription unit 1 dbRIP_1000432 NC_000015.9:g.101453082_101453376del dbRIP deletion intron 1 dbRIP_1000433 NC_000016.9:g.20778558_20778861del dbRIP deletion intron 1 dbRIP_1000434 NC_000016.9:g.23528554_23528849del dbRIP deletion not within known transcription unit 1 dbRIP_1000435 NC_000016.9:g.49036089_49036207del dbRIP deletion not within known transcription unit 1 dbRIP_1000436 NC_000016.9:g.62046877_62047194del dbRIP deletion intron 1 dbRIP_1000437 NC_000016.9:g.65482189_65482190ins dbRIP insertion intron 1 dbRIP_1000438 NC_000016.9:g.66823206_66823527del dbRIP deletion intron 1 dbRIP_1000439 NC_000016.9:g.67253677_67253981del dbRIP deletion intron 1 dbRIP_1000440 NC_000016.9:g.71164378_71164690del dbRIP deletion intron 1 dbRIP_1000441 NC_000016.9:g.86814227_86814228ins dbRIP insertion not within known transcription unit 1 dbRIP_1000442 NC_000017.10:g.13704561_13704849del dbRIP deletion not within known transcription unit 1 dbRIP_1000443 NC_000017.10:g.30436752_30437055del dbRIP deletion not within known transcription unit 1 dbRIP_1000444 NC_000017.10:g.46617222_46617223ins dbRIP insertion not within known transcription unit 1 dbRIP_1000445 NC_000017.10:g.69852155_69852466del dbRIP deletion not within known transcription unit 1 dbRIP_1000446 NC_000017.10:g.72620219_72620220ins dbRIP insertion promoter 1 dbRIP_1000447 NC_000017.10:g.73040300_73040599del dbRIP deletion intron 1 dbRIP_1000448 NC_000017.10:g.74987531_74987839del dbRIP deletion not within known transcription unit 1 dbRIP_1000449 NC_000017.10:g.75988299_75988597del dbRIP deletion not within known transcription unit 1 dbRIP_1000450 NC_000018.9:g.837119_837419del dbRIP deletion not within known transcription unit 1 dbRIP_1000451 NC_000018.9:g.9385405_9385715del dbRIP deletion intron 1 dbRIP_1000452 NC_000018.9:g.12851197_12851511del dbRIP deletion intron 1 dbRIP_1000453 NC_000018.9:g.25871820_25871821ins dbRIP insertion not within known transcription unit 1 dbRIP_1000454 NC_000018.9:g.31533210_31533211ins dbRIP insertion intron 1 dbRIP_1000455 NC_000018.9:g.41453443_41453755del dbRIP deletion not within known transcription unit 1 dbRIP_1000456 NC_000018.9:g.44338434_44338755del dbRIP deletion not within known transcription unit 1 dbRIP_1000457 NC_000018.9:g.45099909_45100206del dbRIP deletion not within known transcription unit 1 dbRIP_1000458 NC_000018.9:g.55801593_55801903del dbRIP deletion intron 1 dbRIP_1000459 NC_000018.9:g.57258195_57258516del dbRIP deletion intron 1 dbRIP_1000460 NC_000018.9:g.59728670_59728760del dbRIP deletion intron 1 dbRIP_1000461 NC_000018.9:g.66572495_66572496ins dbRIP insertion intron 1 dbRIP_1000462 NC_000018.9:g.68846741_68847058del dbRIP deletion not within known transcription unit 1 dbRIP_1000463 NC_000018.9:g.72152443_72152768del dbRIP deletion not within known transcription unit 1 dbRIP_1000464 NC_000018.9:g.73570022_73570331del dbRIP deletion not within known transcription unit 1 dbRIP_1000465 NC_000019.9:g.37046196_37046497del dbRIP deletion intron 1 dbRIP_1000466 NC_000019.9:g.51776408_51776701del dbRIP deletion not within known transcription unit 1 dbRIP_1000467 NC_000001.10:g.24928813_24929081del dbRIP deletion intron 1 dbRIP_1000468 NC_000001.10:g.27804129_27804441del dbRIP deletion intron 1 dbRIP_1000469 NC_000001.10:g.28247808_28248108del dbRIP deletion not within known transcription unit 1 dbRIP_1000470 NC_000001.10:g.36474696_36474697ins dbRIP insertion intron 1 dbRIP_1000471 NC_000001.10:g.43857471_43857791del dbRIP deletion intron 1 dbRIP_1000472 NC_000001.10:g.45795710_45795711ins dbRIP insertion intron 1 dbRIP_1000473 NC_000001.10:g.56401294_56401603del dbRIP deletion not within known transcription unit 1 dbRIP_1000474 NC_000001.10:g.63461952_63461953ins dbRIP insertion not within known transcription unit 1 dbRIP_1000475 NC_000001.10:g.66263924_66264242del dbRIP deletion intron 1 dbRIP_1000476 NC_000001.10:g.71741333_71741629del dbRIP deletion not within known transcription unit 1 dbRIP_1000477 NC_000001.10:g.76011882_76012195del dbRIP deletion intron 1 dbRIP_1000478 NC_000001.10:g.81351530_81351531ins dbRIP insertion not within known transcription unit 1 dbRIP_1000479 NC_000001.10:g.83042655_83042964del dbRIP deletion not within known transcription unit 1 dbRIP_1000480 NC_000001.10:g.94251468_94251771del dbRIP deletion not within known transcription unit 1 dbRIP_1000481 NC_000001.10:g.95690525_95690829del dbRIP deletion not within known transcription unit 1 dbRIP_1000482 NC_000001.10:g.103047693_103048008del dbRIP deletion not within known transcription unit 1 dbRIP_1000483 NC_000001.10:g.103096081_103096385del dbRIP deletion not within known transcription unit 1 dbRIP_1000484 NC_000001.10:g.105428321_105428639del dbRIP deletion not within known transcription unit 1 dbRIP_1000485 NC_000001.10:g.112991996_112991997ins dbRIP insertion intron 1 dbRIP_1000486 NC_000001.10:g.115043531_115043832del dbRIP deletion intron 1 dbRIP_1000487 NC_000001.10:g.206533156_206533473del dbRIP deletion intron 1 dbRIP_1000488 NC_000001.10:g.146658221_146658222ins dbRIP insertion exon 1 dbRIP_1000489 NC_000001.10:g.182952024_182952308del dbRIP deletion not within known transcription unit 1 dbRIP_1000490 NC_000001.10:g.196779193_196779194ins dbRIP insertion not within known transcription unit 1 dbRIP_1000491 NC_000001.10:g.217754091_217754377del dbRIP deletion intron 1 dbRIP_1000492 NC_000001.10:g.219923324_219923626del dbRIP deletion not within known transcription unit 1 dbRIP_1000493 NC_000001.10:g.224392835_224393134del dbRIP deletion not within known transcription unit 1 dbRIP_1000494 NC_000001.10:g.228024107_228024400del dbRIP deletion intron 1 dbRIP_1000495 NC_000001.10:g.231085163_231085164ins dbRIP insertion intron 1 dbRIP_1000496 NC_000001.10:g.232423134_232423446del dbRIP deletion not within known transcription unit 1 dbRIP_1000497 NC_000001.10:g.234587212_234587512del dbRIP deletion intron 1 dbRIP_1000498 NC_000001.10:g.236054592_236054913del dbRIP deletion not within known transcription unit 1 dbRIP_1000499 NC_000001.10:g.236594940_236595250del dbRIP deletion intron 1 dbRIP_1000500 NC_000001.10:g.241149874_241150181del dbRIP deletion intron 1 dbRIP_1000501 NC_000020.10:g.2514992_2515089del dbRIP deletion not within known transcription unit 1 dbRIP_1000502 NC_000020.10:g.11517279_11517588del dbRIP deletion not within known transcription unit 1 dbRIP_1000503 NC_000020.10:g.22655338_22655650del dbRIP deletion not within known transcription unit 1 dbRIP_1000504 NC_000020.10:g.38337648_38337769del dbRIP deletion not within known transcription unit 1 dbRIP_1000505 NC_000020.10:g.53292666_53292965del dbRIP deletion not within known transcription unit 1 dbRIP_1000506 NC_000020.10:g.54463235_54463537del dbRIP deletion not within known transcription unit 1 dbRIP_1000507 NC_000020.10:g.57785912_57786120del dbRIP deletion intron 1 dbRIP_1000508 NC_000020.10:g.60570639_60570943del dbRIP deletion intron 1 dbRIP_1000509 NC_000021.8:g.30601826_30602156del dbRIP deletion intron 1 dbRIP_1000510 NC_000021.8:g.32092888_32093121del dbRIP deletion not within known transcription unit 1 dbRIP_1000511 NC_000021.8:g.40344317_40344628del dbRIP deletion not within known transcription unit 1 dbRIP_1000512 NC_000021.8:g.42402897_42403203del dbRIP deletion not within known transcription unit 1 dbRIP_1000513 NC_000022.10:g.18283916_18284218del dbRIP deletion intron 1 dbRIP_1000514 NC_000022.10:g.33295773_33296076del dbRIP deletion intron 1 dbRIP_1000515 NC_000022.10:g.37127090_37127247del dbRIP deletion not within known transcription unit 1 dbRIP_1000516 NC_000022.10:g.42140492_42140800del dbRIP deletion intron 1 dbRIP_1000517 NC_000002.11:g.5487783_5488035del dbRIP deletion not within known transcription unit 1 dbRIP_1000518 NC_000002.11:g.21572794_21573083del dbRIP deletion not within known transcription unit 1 dbRIP_1000519 NC_000002.11:g.35034455_35034682del dbRIP deletion not within known transcription unit 1 dbRIP_1000520 NC_000002.11:g.38851434_38851728del dbRIP deletion not within known transcription unit 1 dbRIP_1000521 NC_000002.11:g.40978151_40978471del dbRIP deletion not within known transcription unit 1 dbRIP_1000522 NC_000002.11:g.44783602_44783908del dbRIP deletion intron 1 dbRIP_1000523 NC_000002.11:g.54693495_54693742del dbRIP deletion intron 1 dbRIP_1000524 NC_000002.11:g.57342744_57343056del dbRIP deletion not within known transcription unit 1 dbRIP_1000525 NC_000002.11:g.65807520_65807817del dbRIP deletion not within known transcription unit 1 dbRIP_1000526 NC_000002.11:g.79057659_79057983del dbRIP deletion not within known transcription unit 1 dbRIP_1000527 NC_000002.11:g.84758454_84758733del dbRIP deletion intron 1 dbRIP_1000528 NC_000002.11:g.103322497_103322818del dbRIP deletion intron 1 dbRIP_1000529 NC_000002.11:g.117187127_117187128ins dbRIP insertion not within known transcription unit 1 dbRIP_1000530 NC_000002.11:g.118906145_118906281del dbRIP deletion not within known transcription unit 1 dbRIP_1000531 NC_000002.11:g.134544292_134544606del dbRIP deletion not within known transcription unit 1 dbRIP_1000532 NC_000002.11:g.142351004_142351323del dbRIP deletion intron 1 dbRIP_1000533 NC_000002.11:g.145346769_145346770ins dbRIP insertion not within known transcription unit 1 dbRIP_1000534 NC_000002.11:g.150764253_150764254ins dbRIP insertion not within known transcription unit 1 dbRIP_1000535 NC_000002.11:g.152617302_152617603del dbRIP deletion not within known transcription unit 1 dbRIP_1000536 NC_000002.11:g.160855864_160856174del dbRIP deletion intron 1 dbRIP_1000537 NC_000002.11:g.163666422_163666723del dbRIP deletion intron 1 dbRIP_1000538 NC_000002.11:g.163678628_163678629ins dbRIP insertion intron 1 dbRIP_1000539 NC_000002.11:g.189959423_189959424ins dbRIP insertion intron 1 dbRIP_1000540 NC_000002.11:g.191680795_191680874del dbRIP deletion not within known transcription unit 1 dbRIP_1000541 NC_000002.11:g.195477639_195477735del dbRIP deletion not within known transcription unit 1 dbRIP_1000542 NC_000002.11:g.202721665_202721969del dbRIP deletion intron 1 dbRIP_1000543 NC_000002.11:g.209451732_209452044del dbRIP deletion not within known transcription unit 1 dbRIP_1000544 NC_000002.11:g.214775217_214775511del dbRIP deletion intron 1 dbRIP_1000545 NC_000002.11:g.217092810_217093111del dbRIP deletion not within known transcription unit 1 dbRIP_1000546 NC_000002.11:g.223797368_223797675del dbRIP deletion intron 1 dbRIP_1000547 NC_000002.11:g.227017574_227017806del dbRIP deletion not within known transcription unit 1 dbRIP_1000548 NC_000002.11:g.231325310_231325637del dbRIP deletion intron 1 dbRIP_1000549 NC_000003.11:g.661726_662017del dbRIP deletion not within known transcription unit 1 dbRIP_1000550 NC_000003.11:g.1606423_1606424ins dbRIP insertion not within known transcription unit 1 dbRIP_1000551 NC_000003.11:g.2633042_2633347del dbRIP deletion intron 1 dbRIP_1000552 NC_000003.11:g.15294344_15294345ins dbRIP insertion exon 1 dbRIP_1000553 NC_000003.11:g.23764074_23764387del dbRIP deletion not within known transcription unit 1 dbRIP_1000554 NC_000003.11:g.35051672_35051985del dbRIP deletion not within known transcription unit 1 dbRIP_1000555 NC_000003.11:g.43031107_43031420del dbRIP deletion intron 1 dbRIP_1000556 NC_000003.11:g.67689925_67689926ins dbRIP insertion intron 1 dbRIP_1000557 NC_000003.11:g.68870492_68870766del dbRIP deletion intron 1 dbRIP_1000558 NC_000003.11:g.88609668_88609669ins dbRIP insertion not within known transcription unit 1 dbRIP_1000559 NC_000003.11:g.102283788_102284112del dbRIP deletion not within known transcription unit 1 dbRIP_1000560 NC_000003.11:g.112467402_112467712del dbRIP deletion not within known transcription unit 1 dbRIP_1000561 NC_000003.11:g.113854034_113854347del dbRIP deletion intron 1 dbRIP_1000562 NC_000003.11:g.116275285_116275595del dbRIP deletion not within known transcription unit 1 dbRIP_1000563 NC_000003.11:g.124568674_124568675ins dbRIP insertion intron 1 dbRIP_1000564 NC_000003.11:g.143705285_143705593del dbRIP deletion intron 1 dbRIP_1000565 NC_000003.11:g.148206488_148206794del dbRIP deletion not within known transcription unit 1 dbRIP_1000566 NC_000003.11:g.148566803_148567110del dbRIP deletion intron 1 dbRIP_1000567 NC_000003.11:g.148844387_148844700del dbRIP deletion not within known transcription unit 1 dbRIP_1000568 NC_000003.11:g.163464176_163464473del dbRIP deletion not within known transcription unit 1 dbRIP_1000569 NC_000003.11:g.166390224_166390225ins dbRIP insertion not within known transcription unit 1 dbRIP_1000570 NC_000003.11:g.174410738_174410739ins dbRIP insertion not within known transcription unit 1 dbRIP_1000571 NC_000003.11:g.180961903_180962216del dbRIP deletion not within known transcription unit 1 dbRIP_1000572 NC_000003.11:g.181994859_181994860ins dbRIP insertion not within known transcription unit 1 dbRIP_1000573 NC_000003.11:g.188304850_188305164del dbRIP deletion intron 1 dbRIP_1000574 NC_000003.11:g.191856098_191856423del dbRIP deletion not within known transcription unit 1 dbRIP_1000575 NC_000003.11:g.192063195_192063491del dbRIP deletion intron 1 dbRIP_1000576 NC_000004.11:g.9952310_9952540del dbRIP deletion intron 1 dbRIP_1000577 NC_000004.11:g.9956835_9957139del dbRIP deletion intron 1 dbRIP_1000578 NC_000004.11:g.17202766_17203066del dbRIP deletion not within known transcription unit 1 dbRIP_1000579 NC_000004.11:g.23721683_23721985del dbRIP deletion not within known transcription unit 1 dbRIP_1000580 NC_000004.11:g.36469922_36470237del dbRIP deletion not within known transcription unit 1 dbRIP_1000581 NC_000004.11:g.36842761_36843089del dbRIP deletion not within known transcription unit 1 dbRIP_1000582 NC_000004.11:g.39031091_39031358del dbRIP deletion intron 1 dbRIP_1000583 NC_000004.11:g.41011265_41011266ins dbRIP insertion intron 1 dbRIP_1000584 NC_000004.11:g.41445213_41445294del dbRIP deletion intron 1 dbRIP_1000585 NC_000004.11:g.44509395_44509695del dbRIP deletion not within known transcription unit 1 dbRIP_1000586 NC_000004.11:g.53222442_53222443ins dbRIP insertion not within known transcription unit 1 dbRIP_1000587 NC_000004.11:g.58148031_58148342del dbRIP deletion not within known transcription unit 1 dbRIP_1000588 NC_000004.11:g.69036908_69037214del dbRIP deletion not within known transcription unit 1 dbRIP_1000589 NC_000004.11:g.70413675_70413676ins dbRIP insertion not within known transcription unit 1 dbRIP_1000590 NC_000004.11:g.72829644_72829956del dbRIP deletion not within known transcription unit 1 dbRIP_1000591 NC_000004.11:g.80205743_80206056del dbRIP deletion not within known transcription unit 1 dbRIP_1000592 NC_000004.11:g.81991531_81991836del dbRIP deletion not within known transcription unit 1 dbRIP_1000593 NC_000004.11:g.84221720_84221993del dbRIP deletion intron 1 dbRIP_1000594 NC_000004.11:g.86660770_86661078del dbRIP deletion not within known transcription unit 1 dbRIP_1000595 NC_000004.11:g.87066369_87066535del dbRIP deletion intron 1 dbRIP_1000596 NC_000004.11:g.89037687_89038004del dbRIP deletion intron 1 dbRIP_1000597 NC_000004.11:g.91382210_91382518del dbRIP deletion intron 1 dbRIP_1000598 NC_000004.11:g.93393079_93393384del dbRIP deletion intron 1 dbRIP_1000599 NC_000004.11:g.97897211_97897531del dbRIP deletion not within known transcription unit 1 dbRIP_1000600 NC_000004.11:g.98110657_98110970del dbRIP deletion not within known transcription unit 1 dbRIP_1000601 NC_000004.11:g.98133391_98133689del dbRIP deletion not within known transcription unit 1 dbRIP_1000602 NC_000004.11:g.100023051_100023377del dbRIP deletion not within known transcription unit 1 dbRIP_1000603 NC_000004.11:g.103133358_103133359ins dbRIP insertion not within known transcription unit 1 dbRIP_1000604 NC_000004.11:g.110498758_110499065del dbRIP deletion intron 1 dbRIP_1000605 NC_000004.11:g.111808770_111809059del dbRIP deletion not within known transcription unit 1 dbRIP_1000606 NC_000004.11:g.120013800_120013801ins dbRIP insertion not within known transcription unit 1 dbRIP_1000607 NC_000004.11:g.121808943_121809246del dbRIP deletion intron 1 dbRIP_1000608 NC_000004.11:g.125671752_125672057del dbRIP deletion not within known transcription unit 1 dbRIP_1000609 NC_000004.11:g.129207250_129207251ins dbRIP insertion intron 1 dbRIP_1000610 NC_000004.11:g.134295561_134295863del dbRIP deletion not within known transcription unit 1 dbRIP_1000611 NC_000004.11:g.150161057_150161381del dbRIP deletion not within known transcription unit 1 dbRIP_1000612 NC_000004.11:g.150951041_150951349del dbRIP deletion not within known transcription unit 1 dbRIP_1000613 NC_000004.11:g.160628476_160628477ins dbRIP insertion not within known transcription unit 1 dbRIP_1000614 NC_000004.11:g.163232415_163232714del dbRIP deletion not within known transcription unit 1 dbRIP_1000615 NC_000004.11:g.167108104_167108429del dbRIP deletion not within known transcription unit 1 dbRIP_1000616 NC_000004.11:g.167412044_167412139del dbRIP deletion not within known transcription unit 1 dbRIP_1000617 NC_000004.11:g.170834599_170834600ins dbRIP insertion not within known transcription unit 1 dbRIP_1000618 NC_000004.11:g.171888871_171889174del dbRIP deletion not within known transcription unit 1 dbRIP_1000619 NC_000004.11:g.178156838_178157156del dbRIP deletion not within known transcription unit 1 dbRIP_1000620 NC_000004.11:g.181317290_181317454del dbRIP deletion not within known transcription unit 1 dbRIP_1000621 NC_000004.11:g.184754854_184755151del dbRIP deletion not within known transcription unit 1 dbRIP_1000622 NC_000004.11:g.189793255_189793558del dbRIP deletion not within known transcription unit 1 dbRIP_1000623 NC_000004.11:g.189969696_189970030del dbRIP deletion not within known transcription unit 1 dbRIP_1000624 NC_000004.11:g.190291432_190291737del dbRIP deletion not within known transcription unit 1 dbRIP_1000625 NC_000005.9:g.9411774_9412074del dbRIP deletion intron 1 dbRIP_1000626 NC_000005.9:g.25777322_25777630del dbRIP deletion not within known transcription unit 1 dbRIP_1000627 NC_000005.9:g.33355576_33355894del dbRIP deletion not within known transcription unit 1 dbRIP_1000628 NC_000005.9:g.37293820_37294130del dbRIP deletion intron 1 dbRIP_1000629 NC_000005.9:g.52231789_52232105del dbRIP deletion intron 1 dbRIP_1000630 NC_000005.9:g.64023143_64023144ins dbRIP insertion intron 1 dbRIP_1000631 NC_000005.9:g.75435681_75435781del dbRIP deletion intron 1 dbRIP_1000632 NC_000005.9:g.79013712_79014009del dbRIP deletion intron 1 dbRIP_1000633 NC_000005.9:g.79557199_79557502del dbRIP deletion not within known transcription unit 1 dbRIP_1000634 NC_000005.9:g.80751157_80751471del dbRIP deletion intron 1 dbRIP_1000635 NC_000005.9:g.81182491_81182822del dbRIP deletion not within known transcription unit 1 dbRIP_1000636 NC_000005.9:g.82156733_82157031del dbRIP deletion not within known transcription unit 1 dbRIP_1000637 NC_000005.9:g.90574703_90574986del dbRIP deletion not within known transcription unit 1 dbRIP_1000638 NC_000005.9:g.95343327_95343665del dbRIP deletion not within known transcription unit 1 dbRIP_1000639 NC_000005.9:g.97843951_97844250del dbRIP deletion not within known transcription unit 1 dbRIP_1000640 NC_000005.9:g.99174330_99174628del dbRIP deletion not within known transcription unit 1 dbRIP_1000641 NC_000005.9:g.99923548_99923838del dbRIP deletion not within known transcription unit 1 dbRIP_1000642 NC_000005.9:g.100984054_100984088del dbRIP deletion not within known transcription unit 1 dbRIP_1000643 NC_000005.9:g.109051006_109051007ins dbRIP insertion intron 1 dbRIP_1000644 NC_000005.9:g.112881431_112881736del dbRIP deletion intron 1 dbRIP_1000645 NC_000005.9:g.114092083_114092084ins dbRIP insertion not within known transcription unit 1 dbRIP_1000646 NC_000005.9:g.115894149_115894457del dbRIP deletion intron 1 dbRIP_1000647 NC_000005.9:g.119015158_119015464del dbRIP deletion not within known transcription unit 1 dbRIP_1000648 NC_000005.9:g.122274354_122274663del dbRIP deletion intron 1 dbRIP_1000649 NC_000005.9:g.128314856_128314857ins dbRIP insertion intron 1 dbRIP_1000650 NC_000005.9:g.142355013_142355014ins dbRIP insertion intron 1 dbRIP_1000651 NC_000005.9:g.170857511_170857817del dbRIP deletion intron 1 dbRIP_1000652 NC_000006.11:g.4050258_4050560del dbRIP deletion intron 1 dbRIP_1000653 NC_000006.11:g.8227940_8228241del dbRIP deletion not within known transcription unit 1 dbRIP_1000654 NC_000006.11:g.9014833_9014924del dbRIP deletion not within known transcription unit 1 dbRIP_1000655 NC_000006.11:g.23300377_23300684del dbRIP deletion not within known transcription unit 1 dbRIP_1000656 NC_000006.11:g.28190208_28190532del dbRIP deletion not within known transcription unit 1 dbRIP_1000657 NC_000006.11:g.37294973_37295276del dbRIP deletion intron 1 dbRIP_1000658 NC_000006.11:g.44613499_44613800del dbRIP deletion not within known transcription unit 1 dbRIP_1000659 NC_000006.11:g.47778241_47778242ins dbRIP insertion intron 1 dbRIP_1000660 NC_000006.11:g.50765972_50766267del dbRIP deletion not within known transcription unit 1 dbRIP_1000661 NC_000006.11:g.51256301_51256602del dbRIP deletion not within known transcription unit 1 dbRIP_1000662 NC_000006.11:g.54556450_54556770del dbRIP deletion not within known transcription unit 1 dbRIP_1000663 NC_000006.11:g.54864379_54864690del dbRIP deletion not within known transcription unit 1 dbRIP_1000664 NC_000006.11:g.75957800_75958103del dbRIP deletion not within known transcription unit 1 dbRIP_1000665 NC_000006.11:g.86026366_86026669del dbRIP deletion not within known transcription unit 1 dbRIP_1000666 NC_000006.11:g.92808011_92808320del dbRIP deletion not within known transcription unit 1 dbRIP_1000667 NC_000006.11:g.93524554_93524752del dbRIP deletion not within known transcription unit 1 dbRIP_1000668 NC_000006.11:g.106928846_106929148del dbRIP deletion not within known transcription unit 1 dbRIP_1000669 NC_000006.11:g.112203868_112204168del dbRIP deletion not within known transcription unit 1 dbRIP_1000670 NC_000006.11:g.116750830_116751132del dbRIP deletion intron 1 dbRIP_1000671 NC_000006.11:g.119417520_119417831del dbRIP deletion intron 1 dbRIP_1000672 NC_000006.11:g.120894461_120894462ins dbRIP insertion not within known transcription unit 1 dbRIP_1000673 NC_000006.11:g.123763424_123763721del dbRIP deletion intron 1 dbRIP_1000674 NC_000006.11:g.128989832_128990150del dbRIP deletion not within known transcription unit 1 dbRIP_1000675 NC_000006.11:g.132697643_132697951del dbRIP deletion intron 1 dbRIP_1000676 NC_000006.11:g.133371502_133371831del dbRIP deletion not within known transcription unit 1 dbRIP_1000677 NC_000006.11:g.154446931_154447236del dbRIP deletion intron 1 dbRIP_1000678 NC_000006.11:g.170044824_170045153del dbRIP deletion intron 1 dbRIP_1000679 NC_000007.13:g.4807756_4808062del dbRIP deletion exon 1 dbRIP_1000680 NC_000007.13:g.7542328_7542611del dbRIP deletion intron 1 dbRIP_1000681 NC_000007.13:g.12058716_12059026del dbRIP deletion not within known transcription unit 1 dbRIP_1000682 NC_000007.13:g.37836651_37836652ins dbRIP insertion not within known transcription unit 1 dbRIP_1000683 NC_000007.13:g.49552076_49552383del dbRIP deletion not within known transcription unit 1 dbRIP_1000684 NC_000007.13:g.51691910_51692218del dbRIP deletion not within known transcription unit 1 dbRIP_1000685 NC_000007.13:g.52094974_52095275del dbRIP deletion not within known transcription unit 1 dbRIP_1000686 NC_000007.13:g.79742091_79742408del dbRIP deletion not within known transcription unit 1 dbRIP_1000687 NC_000007.13:g.86836630_86836923del dbRIP deletion intron 1 dbRIP_1000688 NC_000007.13:g.89598885_89599188del dbRIP deletion not within known transcription unit 1 dbRIP_1000689 NC_000007.13:g.90583946_90584239del dbRIP deletion intron 1 dbRIP_1000690 NC_000007.13:g.95386269_95386584del dbRIP deletion not within known transcription unit 1 VAR_053341 Q9NYW5:p.Phe62Leu SP substitution exon 1 dbRIP_1000691 NC_000007.13:g.96522757_96523071del dbRIP deletion not within known transcription unit 1 dbRIP_1000692 NC_000007.13:g.102488721_102489043del dbRIP deletion intron 1 dbRIP_1000693 NC_000007.13:g.103463080_103463388del dbRIP deletion intron 1 dbRIP_1000694 NC_000007.13:g.104129529_104129796del dbRIP deletion intron 1 dbRIP_1000695 NC_000007.13:g.105466062_105466063ins dbRIP insertion intron 1 dbRIP_1000696 NC_000007.13:g.107683994_107684126del dbRIP deletion intron 1 dbRIP_1000697 NC_000007.13:g.116842018_116842315del dbRIP deletion intron 1 dbRIP_1000698 NC_000007.13:g.124593026_124593027ins dbRIP insertion not within known transcription unit 1 dbRIP_1000699 NC_000007.13:g.128309227_128309529del dbRIP deletion not within known transcription unit 1 dbRIP_1000700 NC_000007.13:g.137455285_137455578del dbRIP deletion intron 1 dbRIP_1000701 NC_000007.13:g.141113881_141114183del dbRIP deletion not within known transcription unit 1 dbRIP_1000702 NC_000007.13:g.152419414_152419715del dbRIP deletion not within known transcription unit 1 dbRIP_1000703 NC_000008.10:g.2037016_2037054del dbRIP deletion intron 1 dbRIP_1000704 NC_000008.10:g.15387304_15387593del dbRIP deletion not within known transcription unit 1 dbRIP_1000705 NC_000008.10:g.16962223_16962528del dbRIP deletion intron 1 dbRIP_1000706 NC_000008.10:g.17265616_17265925del dbRIP deletion intron 1 dbRIP_1000707 NC_000008.10:g.19980278_19980577del dbRIP deletion not within known transcription unit 1 dbRIP_1000708 NC_000008.10:g.30392291_30392581del dbRIP deletion intron 1 dbRIP_1000709 NC_000008.10:g.41279345_41279651del dbRIP deletion not within known transcription unit 1 dbRIP_1000710 NC_000008.10:g.42585910_42586238del dbRIP deletion intron 1 dbRIP_1000711 NC_000008.10:g.54204897_54205198del dbRIP deletion not within known transcription unit 1 dbRIP_1000712 NC_000008.10:g.56401218_56401518del dbRIP deletion not within known transcription unit 1 dbRIP_1000713 NC_000008.10:g.56967332_56967469del dbRIP deletion not within known transcription unit 1 dbRIP_1000714 NC_000008.10:g.61526797_61526798ins dbRIP insertion intron 1 dbRIP_1000715 NC_000008.10:g.62930151_62930455del dbRIP deletion not within known transcription unit 1 dbRIP_1000716 NC_000008.10:g.71914580_71914581ins dbRIP insertion not within known transcription unit 1 dbRIP_1000717 NC_000008.10:g.76126903_76127212del dbRIP deletion not within known transcription unit 1 dbRIP_1000718 NC_000008.10:g.91515431_91515683del dbRIP deletion not within known transcription unit 1 dbRIP_1000719 NC_000008.10:g.95794722_95794723ins dbRIP insertion intron 1 dbRIP_1000720 NC_000008.10:g.97098089_97098425del dbRIP deletion not within known transcription unit 1 dbRIP_1000721 NC_000008.10:g.98783462_98783780del dbRIP deletion not within known transcription unit 1 dbRIP_1000722 NC_000008.10:g.104382914_104383219del dbRIP deletion promoter 1 dbRIP_1000723 NC_000008.10:g.107511109_107511418del dbRIP deletion intron 1 dbRIP_1000724 NC_000008.10:g.109730176_109730486del dbRIP deletion not within known transcription unit 1 dbRIP_1000725 NC_000008.10:g.110510321_110510629del dbRIP deletion intron 1 dbRIP_1000726 NC_000008.10:g.112168239_112168578del dbRIP deletion not within known transcription unit 1 dbRIP_1000727 NC_000008.10:g.113085437_113085753del dbRIP deletion not within known transcription unit 1 dbRIP_1000728 NC_000008.10:g.116488234_116488545del dbRIP deletion intron 1 dbRIP_1000729 NC_000008.10:g.118223543_118223809del dbRIP deletion not within known transcription unit 1 dbRIP_1000730 NC_000008.10:g.121854760_121855061del dbRIP deletion not within known transcription unit 1 dbRIP_1000731 NC_000008.10:g.130907682_130907683ins dbRIP insertion intron 1 dbRIP_1000732 NC_000008.10:g.132393344_132393345ins dbRIP insertion not within known transcription unit 1 dbRIP_1000733 NC_000008.10:g.134329461_134329766del dbRIP deletion not within known transcription unit 1 dbRIP_1000734 NC_000008.10:g.140475270_140475590del dbRIP deletion not within known transcription unit 1 dbRIP_1000735 NC_000009.11:g.16463295_16463593del dbRIP deletion intron 1 dbRIP_1000736 NC_000009.11:g.18751840_18752116del dbRIP deletion intron 1 dbRIP_1000737 NC_000009.11:g.22999504_22999819del dbRIP deletion not within known transcription unit 1 dbRIP_1000738 NC_000009.11:g.28584936_28585011del dbRIP deletion intron 1 dbRIP_1000739 NC_000009.11:g.30491299_30491595del dbRIP deletion not within known transcription unit 1 dbRIP_1000740 NC_000009.11:g.32315162_32315380del dbRIP deletion not within known transcription unit 1 dbRIP_1000741 NC_000009.11:g.71777942_71778244del dbRIP deletion intron 1 dbRIP_1000742 NC_000009.11:g.74269395_74269666del dbRIP deletion not within known transcription unit 1 dbRIP_1000743 NC_000009.11:g.78736736_78737038del dbRIP deletion intron 1 dbRIP_1000744 NC_000009.11:g.79124520_79124828del dbRIP deletion not within known transcription unit 1 dbRIP_1000745 NC_000009.11:g.85033860_85034187del dbRIP deletion not within known transcription unit 1 dbRIP_1000746 NC_000009.11:g.96730359_96730597del dbRIP deletion not within known transcription unit 1 dbRIP_1000747 NC_000009.11:g.98266015_98266344del dbRIP deletion intron 1 dbRIP_1000748 NC_000009.11:g.100761076_100761388del dbRIP deletion intron 1 dbRIP_1000749 NC_000009.11:g.101209347_101209644del dbRIP deletion intron 1 dbRIP_1000750 NC_000009.11:g.118109657_118109987del dbRIP deletion intron 1 dbRIP_1000751 NC_000009.11:g.122531846_122532152del dbRIP deletion not within known transcription unit 1 dbRIP_1000752 NC_000023.10:g.22855565_22855837del dbRIP deletion not within known transcription unit 1 dbRIP_1000753 NC_000023.10:g.24292716_24293032del dbRIP deletion not within known transcription unit 1 dbRIP_1000754 NC_000023.10:g.33208594_33208903del dbRIP deletion intron 1 dbRIP_1000755 NC_000023.10:g.33302852_33302853ins dbRIP insertion intron 1 dbRIP_1000756 NC_000023.10:g.71123232_71123537del dbRIP deletion not within known transcription unit 1 dbRIP_1000757 NC_000023.10:g.106661474_106661475ins dbRIP insertion not within known transcription unit 1 dbRIP_1000758 NC_000023.10:g.116454362_116454664del dbRIP deletion not within known transcription unit 1 dbRIP_1000759 NC_000023.10:g.4904724_4905022del dbRIP deletion not within known transcription unit 1 dbRIP_1000760 NC_000023.10:g.11096410_11096731del dbRIP deletion not within known transcription unit 1 dbRIP_1000761 NC_000023.10:g.5570351_5570680del dbRIP deletion not within known transcription unit 1 dbRIP_1000762 NC_000023.10:g.129539811_129540128del dbRIP deletion intron 1 dbRIP_1000763 NC_000023.10:g.114670506_114670787del dbRIP deletion not within known transcription unit 1 dbRIP_1000764 NC_000023.10:g.138941979_138942285del dbRIP deletion not within known transcription unit 1 dbRIP_1000765 NC_000023.10:g.119643326_119643624del dbRIP deletion not within known transcription unit 1 dbRIP_1000766 NC_000023.10:g.105191173_105191459del dbRIP deletion intron 1 dbRIP_1000767 NC_000023.10:g.127745091_127745396del dbRIP deletion not within known transcription unit 1 dbRIP_1000768 NC_000023.10:g.143843289_143843581del dbRIP deletion not within known transcription unit 1 dbRIP_1000769 NC_000023.10:g.93564987_93565294del dbRIP deletion not within known transcription unit 1 dbRIP_1000770 NC_000023.10:g.45587548_45587549ins dbRIP insertion not within known transcription unit 1 dbRIP_1000771 NC_000007.13:g.104187402_104187715del dbRIP deletion intron 1 dbRIP_1000772 NC_000002.11:g.39592577_39592884del dbRIP deletion intron 1 dbRIP_1000773 NC_000012.11:g.15623434_15623435ins dbRIP insertion intron 1 dbRIP_1000774 NC_000012.11:g.97554742_97555055del dbRIP deletion not within known transcription unit 1 dbRIP_1000775 NC_000014.8:g.106954402_106954712del dbRIP deletion not within known transcription unit 1 dbRIP_1000776 NC_000014.8:g.81597054_81597359del dbRIP deletion not within known transcription unit 1 dbRIP_1000777 NC_000016.9:g.32060815_32061128del dbRIP deletion not within known transcription unit 1 dbRIP_1000778 NC_000016.9:g.26608038_26608365del dbRIP deletion not within known transcription unit 1 dbRIP_1000779 NC_000016.9:g.83003990_83004270del dbRIP deletion intron 1 dbRIP_1000780 NC_000016.9:g.2102235_2102236ins dbRIP insertion intron 1 dbRIP_1000781 NC_000017.10:g.14962961_14963267del dbRIP deletion not within known transcription unit 1 dbRIP_1000782 NC_000017.10:g.66548807_66549121del dbRIP deletion intron 1 dbRIP_1000783 NC_000017.10:g.60741324_60741619del dbRIP deletion intron 1 dbRIP_1000784 NC_000018.9:g.25827893_25828209del dbRIP deletion not within known transcription unit 1 dbRIP_1000785 NC_000021.8:g.10969157_10969438del dbRIP deletion intron 1 dbRIP_1000786 NC_000021.8:g.33467851_33468076del dbRIP deletion intron 1 dbRIP_1000787 NC_000021.8:g.39093002_39093309del dbRIP deletion intron 1 dbRIP_1000788 NC_000022.10:g.18047376_18047718del dbRIP deletion intron 1 dbRIP_1000789 NC_000002.11:g.114362668_114362970del dbRIP deletion not within known transcription unit 1 dbRIP_1000790 NC_000003.11:g.186029624_186029945del dbRIP deletion intron 1 dbRIP_1000791 NC_000005.9:g.144597045_144597342del dbRIP deletion not within known transcription unit 1 dbRIP_1000792 NC_000006.11:g.9460393_9460714del dbRIP deletion not within known transcription unit 1 dbRIP_1000793 NC_000006.11:g.25529885_25530011del dbRIP deletion intron 1 dbRIP_1000794 NC_000006.11:g.33093425_33093738del dbRIP deletion intron 1 dbRIP_1000795 NC_000007.13:g.31759535_31759811del dbRIP deletion not within known transcription unit 1 dbRIP_1000796 NC_000007.13:g.103722866_103723171del dbRIP deletion not within known transcription unit 1 dbRIP_1000797 NC_000007.13:g.82946836_82947143del dbRIP deletion not within known transcription unit 1 dbRIP_1000798 NC_000007.13:g.96067522_96067827del dbRIP deletion not within known transcription unit 1 dbRIP_1000799 NC_000007.13:g.8750276_8750591del dbRIP deletion intron 1 dbRIP_1000800 NC_000007.13:g.125265111_125265426del dbRIP deletion not within known transcription unit 1 dbRIP_1000801 NC_000023.10:g.76090603_76090881del dbRIP deletion not within known transcription unit 1 dbRIP_1000802 NC_000022.10:g.30993869_30994095del dbRIP deletion not within known transcription unit 1 dbRIP_1000803 NC_000023.10:g.106744589_106744763del dbRIP deletion not within known transcription unit 1 dbRIP_1000804 NC_000023.10:g.85541123_85541411del dbRIP deletion intron 1 dbRIP_1000805 NC_000023.10:g.140217337_140217655del dbRIP deletion not within known transcription unit 1 dbRIP_1000806 NC_000023.10:g.151917508_151917828del dbRIP deletion not within known transcription unit 1 dbRIP_1000807 NC_000024.9:g.26983810_26984149del dbRIP deletion not within known transcription unit 1 dbRIP_1000808 NC_000024.9:g.15881787_15882097del dbRIP deletion not within known transcription unit 1 dbRIP_1000809 NC_000024.9:g.15683341_15683645del dbRIP deletion not within known transcription unit 1 dbRIP_1000810 NC_000024.9:g.7270273_7270590del dbRIP deletion not within known transcription unit 1 dbRIP_1000811 NC_000024.9:g.5943996_5944310del dbRIP deletion not within known transcription unit 1 dbRIP_1000812 NC_000024.9:g.15815101_15815389del dbRIP deletion promoter 1 dbRIP_1000813 NC_000024.9:g.15140893_15141199del dbRIP deletion not within known transcription unit 1 dbRIP_1000814 NC_000024.9:g.17843092_17843389del dbRIP deletion not within known transcription unit 1 dbRIP_1000815 NC_000024.9:g.4546820_4546821ins dbRIP insertion not within known transcription unit 1 dbRIP_1000816 NC_000024.9:g.3394333_3394639del dbRIP deletion not within known transcription unit 1 dbRIP_1000817 NC_000001.10:g.190861766_190862062del dbRIP deletion not within known transcription unit 1 dbRIP_1000818 NC_000003.11:g.31719293_31719598del dbRIP deletion intron 1 dbRIP_1000819 NC_000005.9:g.18765062_18765382del dbRIP deletion not within known transcription unit 1 dbRIP_1000820 NC_000006.11:g.98691214_98691529del dbRIP deletion not within known transcription unit 1 dbRIP_1000821 NC_000008.10:g.138909171_138909375del dbRIP deletion not within known transcription unit 1 dbRIP_1000822 NC_000009.11:g.25977741_25978048del dbRIP deletion not within known transcription unit 1 dbRIP_1000823 NC_000009.11:g.3078466_3078775del dbRIP deletion not within known transcription unit 1 dbRIP_1000824 NC_000012.11:g.1352072_1352383del dbRIP deletion intron 1 dbRIP_1000825 NC_000014.8:g.71886197_71886513del dbRIP deletion not within known transcription unit 1 dbRIP_1000826 NC_000016.9:g.52004407_52004737del dbRIP deletion not within known transcription unit 1 dbRIP_1000827 NC_000020.10:g.58926729_58927036del dbRIP deletion not within known transcription unit 1 dbRIP_1000828 NC_000001.10:g.58343224_58343535del dbRIP deletion not within known transcription unit 1 dbRIP_1000829 NC_000001.10:g.98605298_98605299ins dbRIP insertion not within known transcription unit 1 dbRIP_1000830 NC_000001.10:g.233865156_233865470del dbRIP deletion not within known transcription unit 1 dbRIP_1000831 NC_000008.10:g.5748188_5748505del dbRIP deletion not within known transcription unit 1 dbRIP_1000832 NC_000001.10:g.188994965_188995283del dbRIP deletion not within known transcription unit 1 dbRIP_1000833 NC_000001.10:g.85748635_85748950del dbRIP deletion not within known transcription unit 1 dbRIP_1000834 NC_000001.10:g.28621453_28621901del dbRIP deletion not within known transcription unit 1 dbRIP_1000835 NC_000002.11:g.169886237_169886548del dbRIP deletion intron 1 dbRIP_1000836 NC_000002.11:g.224473115_224473334del dbRIP deletion not within known transcription unit 1 dbRIP_1000837 NC_000002.11:g.85335371_85335675del dbRIP deletion not within known transcription unit 1 dbRIP_1000838 NC_000002.11:g.122056849_122058069del dbRIP deletion not within known transcription unit 1 dbRIP_1000839 NC_000002.11:g.33781301_33781613del dbRIP deletion intron 1 dbRIP_1000840 NC_000002.11:g.233668387_233668676del dbRIP deletion intron 1 dbRIP_1000841 NC_000003.11:g.2311631_2311932del dbRIP deletion intron 1 dbRIP_1000842 NC_000003.11:g.5275622_5275927del dbRIP deletion not within known transcription unit 1 dbRIP_1000843 NC_000003.11:g.147628648_147628946del dbRIP deletion not within known transcription unit 1 dbRIP_1000844 NC_000003.11:g.95116209_95116522del dbRIP deletion not within known transcription unit 1 dbRIP_1000845 NC_000003.11:g.97435129_97435437del dbRIP deletion intron 1 dbRIP_1000846 NC_000003.11:g.122138452_122138768del dbRIP deletion not within known transcription unit 1 dbRIP_1000847 NC_000003.11:g.129184487_129184780del dbRIP deletion intron 1 dbRIP_1000848 NC_000003.11:g.133490301_133490609del dbRIP deletion intron 1 dbRIP_1000849 NC_000004.11:g.178514258_178514563del dbRIP deletion not within known transcription unit 1 dbRIP_1000850 NC_000004.11:g.98590666_98590970del dbRIP deletion intron 1 dbRIP_1000851 NC_000004.11:g.68944780_68944781ins dbRIP insertion intron 1 dbRIP_1000852 NC_000004.11:g.55998562_55998889del dbRIP deletion not within known transcription unit 1 dbRIP_1000853 NC_000005.9:g.102163374_102163607del dbRIP deletion not within known transcription unit 1 dbRIP_1000854 NC_000005.9:g.61293641_61293953del dbRIP deletion not within known transcription unit 1 dbRIP_1000855 NC_000005.9:g.25275412_25275720del dbRIP deletion not within known transcription unit 1 dbRIP_1000856 NC_000005.9:g.78277740_78278045del dbRIP deletion intron 1 dbRIP_1000857 NC_000005.9:g.166150764_166151068del dbRIP deletion not within known transcription unit 1 dbRIP_1000858 NC_000005.9:g.6524388_6524694del dbRIP deletion not within known transcription unit 1 dbRIP_1000859 NC_000005.9:g.126942347_126942659del dbRIP deletion not within known transcription unit 1 dbRIP_1000860 NC_000005.9:g.32571523_32571524ins dbRIP insertion not within known transcription unit 1 dbRIP_1000861 NC_000006.11:g.54780323_54780634del dbRIP deletion intron 1 dbRIP_1000862 NC_000006.11:g.140952904_140953178del dbRIP deletion not within known transcription unit 1 dbRIP_1000863 NC_000006.11:g.55262035_55262341del dbRIP deletion intron 1 dbRIP_1000864 NC_000006.11:g.106983637_106983946del dbRIP deletion intron 1 dbRIP_1000865 NC_000007.13:g.37998517_37998822del dbRIP deletion not within known transcription unit 1 dbRIP_1000866 NC_000007.13:g.44962409_44962718del dbRIP deletion not within known transcription unit 1 dbRIP_1000867 NC_000007.13:g.57364907_57365217del dbRIP deletion not within known transcription unit 1 dbRIP_1000868 NC_000007.13:g.37477291_37477604del dbRIP deletion intron 1 dbRIP_1000869 NC_000007.13:g.42604638_42604965del dbRIP deletion not within known transcription unit 1 dbRIP_1000870 NC_000007.13:g.70567078_70567388del dbRIP deletion not within known transcription unit 1 dbRIP_1000871 NC_000007.13:g.3815201_3815507del dbRIP deletion intron 1 dbRIP_1000872 NC_000008.10:g.137716830_137717140del dbRIP deletion not within known transcription unit 1 dbRIP_1000873 NC_000008.10:g.75875309_75875631del dbRIP deletion not within known transcription unit 1 dbRIP_1000874 NC_000008.10:g.75876949_75877264del dbRIP deletion not within known transcription unit 1 dbRIP_1000875 NC_000008.10:g.52367516_52367691del dbRIP deletion intron 1 dbRIP_1000876 NC_000008.10:g.69417685_69417989del dbRIP deletion intron 1 dbRIP_1000877 NC_000008.10:g.106181411_106181723del dbRIP deletion not within known transcription unit 1 dbRIP_1000878 NC_000009.11:g.77524013_77524360del dbRIP deletion not within known transcription unit 1 dbRIP_1000879 NC_000009.11:g.41038344_41038654del dbRIP deletion not within known transcription unit 1 dbRIP_1000880 NC_000009.11:g.71703162_71703466del dbRIP deletion not within known transcription unit 1 dbRIP_1000881 NC_000010.10:g.13258023_13258320del dbRIP deletion not within known transcription unit 1 dbRIP_1000882 NC_000010.10:g.63743629_63743794del dbRIP deletion intron 1 dbRIP_1000883 NC_000010.10:g.70998125_70998431del dbRIP deletion intron 1 dbRIP_1000884 NC_000011.9:g.88549099_88549735del dbRIP deletion intron 1 dbRIP_1000885 NC_000011.9:g.6881360_6881966del dbRIP deletion not within known transcription unit 1 dbRIP_1000886 NC_000011.9:g.58462445_58462747del dbRIP deletion not within known transcription unit 1 dbRIP_1000887 NC_000011.9:g.19382775_19382776ins dbRIP insertion intron 1 dbRIP_1000888 NC_000012.11:g.127502639_127502852del dbRIP deletion not within known transcription unit 1 dbRIP_1000889 NC_000012.11:g.61736541_61736799del dbRIP deletion not within known transcription unit 1 dbRIP_1000890 NC_000012.11:g.10703502_10703814del dbRIP deletion not within known transcription unit 1 dbRIP_1000891 NC_000012.11:g.29573421_29573752del dbRIP deletion not within known transcription unit 1 dbRIP_1000892 NC_000013.10:g.110812509_110812806del dbRIP deletion intron 1 dbRIP_1000893 NC_000013.10:g.70459072_70459372del dbRIP deletion intron 1 dbRIP_1000894 NC_000013.10:g.107924550_107924861del dbRIP deletion intron 1 dbRIP_1000895 NC_000013.10:g.95251134_95251441del dbRIP deletion not within known transcription unit 1 dbRIP_1000896 NC_000013.10:g.98721251_98721556del dbRIP deletion not within known transcription unit 1 dbRIP_1000897 NC_000013.10:g.25270563_25270883del dbRIP deletion intron 1 dbRIP_1000898 NC_000013.10:g.78594165_78594474del dbRIP deletion not within known transcription unit 1 dbRIP_1000899 NC_000015.9:g.61964761_61964874del dbRIP deletion not within known transcription unit 1 VAR_053342 Q9NYW5:p.Ile191Val SP substitution exon 1 dbRIP_1000900 NC_000015.9:g.34746989_34747302del dbRIP deletion not within known transcription unit 1 dbRIP_1000901 NC_000012.11:g.128932256_128932541del dbRIP deletion intron 1 dbRIP_1000902 NC_000015.9:g.58912866_58913166del dbRIP deletion intron 1 dbRIP_1000903 NC_000015.9:g.67534480_67534799del dbRIP deletion intron 1 dbRIP_1000904 NC_000016.9:g.15915492_15915810del dbRIP deletion intron 1 dbRIP_1000905 NC_000017.10:g.67206311_67206629del dbRIP deletion intron 1 dbRIP_1000906 NC_000017.10:g.19543429_19543725del dbRIP deletion not within known transcription unit 1 dbRIP_1000907 NC_000017.10:g.42924520_42924813del dbRIP deletion promoter 1 dbRIP_1000908 NC_000018.9:g.39187998_39188321del dbRIP deletion not within known transcription unit 1 dbRIP_1000909 NC_000019.9:g.6152306_6152560del dbRIP deletion intron 1 dbRIP_1000910 NC_000019.9:g.22835023_22835183del dbRIP deletion intron 1 dbRIP_1000911 NC_000020.10:g.5943001_5943316del dbRIP deletion intron 1 dbRIP_1000912 NC_000020.10:g.14980988_14981305del dbRIP deletion not within known transcription unit 1 dbRIP_1000913 NC_000020.10:g.46019080_46019393del dbRIP deletion not within known transcription unit 1 dbRIP_1000914 NC_000020.10:g.59974181_59974487del dbRIP deletion intron 1 dbRIP_1000915 NC_000020.10:g.26061339_26061645del dbRIP deletion intron 1 dbRIP_1000916 NC_000020.10:g.40943733_40943853del dbRIP deletion intron 1 dbRIP_1000917 NC_000021.8:g.41586880_41587190del dbRIP deletion intron 1 dbRIP_1000918 NC_000021.8:g.37864450_37864758del dbRIP deletion intron 1 dbRIP_1000919 NC_000022.10:g.43549346_43549655del dbRIP deletion not within known transcription unit 1 dbRIP_1000920 NC_000001.10:g.63151829_63152158del dbRIP deletion intron 1 dbRIP_1000921 NC_000002.11:g.8616812_8617101del dbRIP deletion not within known transcription unit 1 dbRIP_1000922 NC_000003.11:g.6679969_6679970ins dbRIP insertion not within known transcription unit 1 dbRIP_1000923 NC_000003.11:g.69845647_69845922del dbRIP deletion intron 1 dbRIP_1000924 NC_000004.11:g.190624637_190624932del dbRIP deletion not within known transcription unit 1 dbRIP_1000925 NC_000005.9:g.157453033_157453034ins dbRIP insertion not within known transcription unit 1 dbRIP_1000926 NC_000005.9:g.29439399_29439681del dbRIP deletion not within known transcription unit 1 dbRIP_1000927 NC_000005.9:g.29458980_29459295del dbRIP deletion not within known transcription unit 1 dbRIP_1000928 NC_000005.9:g.69313837_69313838ins dbRIP insertion not within known transcription unit 1 dbRIP_1000929 NC_000006.11:g.135792869_135793185del dbRIP deletion intron 1 dbRIP_1000930 NC_000006.11:g.51806039_51806352del dbRIP deletion intron 1 dbRIP_1000931 NC_000006.11:g.45967476_45967785del dbRIP deletion not within known transcription unit 1 dbRIP_1000932 NC_000008.10:g.123235261_123235262ins dbRIP insertion not within known transcription unit 1 dbRIP_1000933 NC_000008.10:g.140593334_140593335ins dbRIP insertion not within known transcription unit 1 dbRIP_1000934 NC_000009.11:g.200132_200443del dbRIP deletion not within known transcription unit 1 dbRIP_1000935 NC_000011.9:g.31152448_31152747del dbRIP deletion not within known transcription unit 1 dbRIP_1000936 NC_000013.10:g.23557674_23557984del dbRIP deletion not within known transcription unit 1 dbRIP_1000937 NC_000013.10:g.19178189_19178464del dbRIP deletion not within known transcription unit 1 dbRIP_1000938 NC_000014.8:g.101165914_101166223del dbRIP deletion not within known transcription unit 1 dbRIP_1000939 NC_000014.8:g.57031228_57031566del dbRIP deletion not within known transcription unit 1 dbRIP_1000940 NC_000014.8:g.78828246_78828584del dbRIP deletion not within known transcription unit 1 dbRIP_1000941 NC_000016.9:g.29565350_29565648del dbRIP deletion intron 1 dbRIP_1000942 NC_000019.9:g.53323364_53323669del dbRIP deletion intron 1 dbRIP_1000943 NC_000020.10:g.20275291_20275614del dbRIP deletion intron 1 dbRIP_1000944 NC_000021.8:g.42084203_42084420del dbRIP deletion intron 1 dbRIP_1000945 NC_000004.11:g.58091513_58091780del dbRIP deletion not within known transcription unit 1 dbRIP_1000946 NC_000022.10:g.51244032_51244166del dbRIP deletion not within known transcription unit 1 dbRIP_1000947 NC_000009.11:g.10828107_10828426del dbRIP deletion not within known transcription unit 1 dbRIP_1000948 NC_000001.10:g.158177058_158177369del dbRIP deletion not within known transcription unit 1 dbRIP_1000949 NC_000019.9:g.837878_838175del dbRIP deletion not within known transcription unit 1 dbRIP_1000950 NC_000021.8:g.41750483_41750819del dbRIP deletion intron 1 dbRIP_1000951 NC_000020.10:g.35288949_35289263del dbRIP deletion intron 1 dbRIP_1000952 NC_000009.11:g.13840788_13841082del dbRIP deletion not within known transcription unit 1 dbRIP_1000953 NC_000006.11:g.2059661_2059956del dbRIP deletion intron 1 dbRIP_1000954 NC_000007.13:g.52802866_52803156del dbRIP deletion not within known transcription unit 1 dbRIP_1000955 NC_000016.9:g.82164473_82164673del dbRIP deletion not within known transcription unit 1 dbRIP_1000956 NC_000012.11:g.79707668_79707972del dbRIP deletion intron 1 dbRIP_1000957 NC_000014.8:g.86342851_86343156del dbRIP deletion not within known transcription unit 1 dbRIP_1000958 NC_000013.10:g.76311608_76311924del dbRIP deletion not within known transcription unit 1 dbRIP_1000959 NC_000007.13:g.42426952_42427237del dbRIP deletion not within known transcription unit 1 dbRIP_1000960 NC_000007.13:g.33403547_33403859del dbRIP deletion intron 1 dbRIP_1000961 NC_000014.8:g.35305304_35305621del dbRIP deletion intron 1 dbRIP_1000962 NC_000007.13:g.83728374_83728687del dbRIP deletion intron 1 dbRIP_1000963 NC_000010.10:g.10708544_10708852del dbRIP deletion not within known transcription unit 1 dbRIP_1000964 NC_000006.11:g.91237591_91237896del dbRIP deletion intron 1 dbRIP_1000965 NC_000020.10:g.26149021_26149313del dbRIP deletion not within known transcription unit 1 dbRIP_1000966 NC_000020.10:g.47544741_47545034del dbRIP deletion intron 1 dbRIP_1000967 NC_000019.9:g.13479571_13479870del dbRIP deletion intron 1 dbRIP_1000968 NC_000021.8:g.24828961_24829186del dbRIP deletion not within known transcription unit 1 dbRIP_1000969 NC_000002.11:g.150759310_150759621del dbRIP deletion not within known transcription unit 1 dbRIP_1000970 NC_000002.11:g.171339889_171340157del dbRIP deletion intron 1 dbRIP_1000971 NC_000002.11:g.34643649_34643937del dbRIP deletion not within known transcription unit 1 dbRIP_1000972 NC_000006.11:g.121319307_121319616del dbRIP deletion not within known transcription unit 1 dbRIP_1000973 NC_000009.11:g.73463612_73463913del dbRIP deletion intron 1 dbRIP_1000974 NC_000009.11:g.122357092_122357267del dbRIP deletion not within known transcription unit 1 dbRIP_1000975 NC_000016.9:g.71060318_71060319ins dbRIP insertion intron 1 dbRIP_1000976 NC_000017.10:g.15530765_15531064del dbRIP deletion downstream 1 dbRIP_1000977 NC_000001.10:g.70946206_70946520del dbRIP deletion not within known transcription unit 1 dbRIP_1000978 NC_000016.9:g.876642_876957del dbRIP deletion not within known transcription unit 1 dbRIP_1000979 NC_000009.11:g.3780633_3780942del dbRIP deletion not within known transcription unit 1 dbRIP_1000980 NC_000012.11:g.26511038_26511352del dbRIP deletion intron 1 dbRIP_1000981 NC_000002.11:g.81753613_81753909del dbRIP deletion not within known transcription unit 1 dbRIP_1000982 NC_000010.10:g.61365495_61365800del dbRIP deletion not within known transcription unit 1 dbRIP_1000983 NC_000021.8:g.30263767_30264103del dbRIP deletion not within known transcription unit 1 dbRIP_1000984 NC_000013.10:g.42946065_42946378del dbRIP deletion not within known transcription unit 1 dbRIP_1000985 NC_000006.11:g.7717384_7717702del dbRIP deletion not within known transcription unit 1 dbRIP_1000986 NC_000010.10:g.32705738_32706064del dbRIP deletion not within known transcription unit 1 dbRIP_1000987 NC_000002.11:g.207890667_207890982del dbRIP deletion not within known transcription unit 1 dbRIP_1000988 NC_000012.11:g.58458224_58458225ins dbRIP insertion not within known transcription unit 1 dbRIP_1000989 NC_000014.8:g.63887489_63887802del dbRIP deletion intron 1 dbRIP_1000990 NC_000016.9:g.19230438_19230764del dbRIP deletion intron 1 dbRIP_1000991 NC_000001.10:g.217024868_217024869ins dbRIP insertion not within known transcription unit 1 dbRIP_1000992 NC_000001.10:g.171261236_171261541del dbRIP deletion not within known transcription unit 1 dbRIP_1000993 NC_000020.10:g.24269611_24269829del dbRIP deletion not within known transcription unit 1 dbRIP_1000994 NC_000002.11:g.189853958_189853959ins dbRIP insertion intron 1 dbRIP_1000995 NC_000003.11:g.174615622_174615934del dbRIP deletion intron 1 dbRIP_1000996 NC_000004.11:g.144573302_144573614del dbRIP deletion intron 1 dbRIP_1000997 NC_000005.9:g.94994221_94994222ins dbRIP insertion exon 1 dbRIP_1000998 NC_000005.9:g.143353651_143353809del dbRIP deletion not within known transcription unit 1 dbRIP_1000999 NC_000007.13:g.80801700_80802025del dbRIP deletion not within known transcription unit 1 dbRIP_1001000 NC_000007.13:g.127766429_127766728del dbRIP deletion not within known transcription unit 1 dbRIP_1001001 NC_000009.11:g.89946027_89946028ins dbRIP insertion not within known transcription unit 1 dbRIP_1001002 NC_000009.11:g.119477078_119477397del dbRIP deletion intron 1 dbRIP_1001003 NC_000005.9:g.91480788_91481130del dbRIP deletion not within known transcription unit 1 dbRIP_1001004 NC_000004.11:g.177869333_177869634del dbRIP deletion not within known transcription unit 1 dbRIP_1001005 NC_000006.11:g.52805039_52805040ins dbRIP insertion not within known transcription unit 1 dbRIP_1001006 NC_000015.9:g.52525193_52525506del dbRIP deletion intron 1 dbRIP_1001007 NC_000007.13:g.47832660_47832661ins dbRIP insertion intron 1 dbRIP_1001008 NC_000016.9:g.80217440_80217441ins dbRIP insertion not within known transcription unit 1 dbRIP_1001009 NC_000020.10:g.9605207_9605208ins dbRIP insertion intron 1 dbRIP_1001010 NC_000015.9:g.70408639_70408640ins dbRIP insertion not within known transcription unit 1 dbRIP_1001011 NC_000003.11:g.40241623_40241624ins dbRIP insertion intron 1 dbRIP_1001012 NC_000010.10:g.16000967_16000968ins dbRIP insertion not within known transcription unit 1 dbRIP_1001013 NC_000003.11:g.194614740_194615040del dbRIP deletion not within known transcription unit 1 dbRIP_1001014 NC_000019.9:g.3994561_3994871del dbRIP deletion not within known transcription unit 1 dbRIP_1001015 NC_000016.9:g.15492975_15492976ins dbRIP insertion not within known transcription unit 1 dbRIP_1001016 NC_000012.11:g.106890953_106890954ins dbRIP insertion intron 1 dbRIP_1001017 NC_000010.10:g.107677560_107677869del dbRIP deletion not within known transcription unit 1 dbRIP_1001018 NC_000011.9:g.46036249_46036582del dbRIP deletion intron 1 dbRIP_1001019 NC_000010.10:g.85983260_85983261ins dbRIP insertion intron 1 dbRIP_1001020 NC_000007.13:g.139933414_139933415ins dbRIP insertion not within known transcription unit 1 dbRIP_1001021 NC_000008.10:g.106664517_106664518ins dbRIP insertion intron 1 dbRIP_1001022 NC_000006.11:g.121455088_121455089ins dbRIP insertion intron 1 dbRIP_1001023 NC_000013.10:g.54524084_54524390del dbRIP deletion not within known transcription unit 1 dbRIP_1001024 NC_000004.11:g.188686168_188686169ins dbRIP insertion not within known transcription unit 1 dbRIP_1001025 NC_000001.10:g.222819192_222819193ins dbRIP insertion intron 1 dbRIP_1001026 NC_000004.11:g.148256048_148256049ins dbRIP insertion not within known transcription unit 1 dbRIP_1001027 NC_000001.10:g.119080705_119080706ins dbRIP insertion not within known transcription unit 1 dbRIP_1001028 NC_000001.10:g.81194354_81194668del dbRIP deletion not within known transcription unit 1 dbRIP_1001029 NC_000012.11:g.16176405_16176710del dbRIP deletion intron 1 dbRIP_1001030 NC_000014.8:g.35128041_35128042ins dbRIP insertion not within known transcription unit 1 dbRIP_1001031 NC_000013.10:g.55438088_55438089ins dbRIP insertion not within known transcription unit 1 dbRIP_1001032 NC_000013.10:g.111076812_111076813ins dbRIP insertion intron 1 dbRIP_1001033 NC_000010.10:g.118277154_118277469del dbRIP deletion not within known transcription unit 1 dbRIP_1001034 NC_000007.13:g.83750958_83751254del dbRIP deletion intron 1 dbRIP_1001035 NC_000010.10:g.92815399_92815704del dbRIP deletion not within known transcription unit 1 dbRIP_1001036 NC_000014.8:g.91185195_91185196ins dbRIP insertion intron 1 dbRIP_1001037 NC_000001.10:g.184937054_184937359del dbRIP deletion intron 1 dbRIP_1001038 NC_000016.9:g.65520013_65520320del dbRIP deletion intron 1 dbRIP_1001039 NC_000007.13:g.42549715_42550022del dbRIP deletion not within known transcription unit 1 dbRIP_1001040 NC_000002.11:g.90003875_90004179del dbRIP deletion not within known transcription unit 1 dbRIP_1001041 NC_000008.10:g.15053406_15053705del dbRIP deletion not within known transcription unit 1 dbRIP_1001042 NC_000023.10:g.44304924_44305236del dbRIP deletion not within known transcription unit 1 dbRIP_1001043 NC_000007.13:g.104615215_104615534del dbRIP deletion not within known transcription unit 1 dbRIP_1001044 NC_000012.11:g.29280252_29280550del dbRIP deletion not within known transcription unit 1 dbRIP_1001045 NC_000014.8:g.45888166_45888467del dbRIP deletion not within known transcription unit 1 dbRIP_1001046 NC_000015.9:g.34741757_34742019del dbRIP deletion not within known transcription unit 1 dbRIP_1001047 NC_000016.9:g.82482535_82482847del dbRIP deletion not within known transcription unit 1 dbRIP_1001048 NC_000001.10:g.79401527_79401830del dbRIP deletion intron 1 dbRIP_1001049 NC_000020.10:g.57723455_57723778del dbRIP deletion not within known transcription unit 1 dbRIP_1001050 NC_000002.11:g.182355984_182356286del dbRIP deletion intron 1 dbRIP_1001051 NC_000004.11:g.101244852_101245110del dbRIP deletion not within known transcription unit 1 dbRIP_1001052 NC_000005.9:g.20018911_20019206del dbRIP deletion not within known transcription unit 1 dbRIP_1001053 NC_000005.9:g.99759477_99759778del dbRIP deletion not within known transcription unit 1 dbRIP_1001054 NC_000005.9:g.177128917_177129208del dbRIP deletion not within known transcription unit 1 dbRIP_1001055 NC_000006.11:g.163814231_163814232ins dbRIP insertion not within known transcription unit 1 dbRIP_1001056 NC_000006.11:g.38922199_38922502del dbRIP deletion intron 1 dbRIP_1001057 NC_000006.11:g.28972222_28972315del dbRIP deletion intron 1 dbRIP_1001058 NC_000006.11:g.168059227_168059536del dbRIP deletion not within known transcription unit 1 dbRIP_1001059 NC_000009.11:g.6752051_6752356del dbRIP deletion intron 1 dbRIP_1001060 NC_000023.10:g.96194674_96194962del dbRIP deletion intron 1 dbRIP_1001061 NC_000023.10:g.31577479_31577780del dbRIP deletion intron 1 dbRIP_1001062 NC_000023.10:g.65527063_65527355del dbRIP deletion not within known transcription unit 1 dbRIP_1001063 NC_000001.10:g.87837553_87837830del dbRIP deletion not within known transcription unit 1 dbRIP_1001064 NC_000011.9:g.62189930_62189931ins dbRIP insertion intron 1 dbRIP_1001065 NC_000003.11:g.98726703_98726704ins dbRIP insertion not within known transcription unit 1 dbRIP_1001066 NC_000004.11:g.133619891_133620182del dbRIP deletion not within known transcription unit 1 dbRIP_1001067 NC_000004.11:g.109107691_109107975del dbRIP deletion not within known transcription unit 1 dbRIP_1001068 NC_000005.9:g.77062326_77062619del dbRIP deletion intron 1 dbRIP_1001069 NC_000011.9:g.87918562_87918861del dbRIP deletion not within known transcription unit 1 dbRIP_1001070 NC_000012.11:g.31773743_31774029del dbRIP deletion not within known transcription unit 1 dbRIP_1001071 NC_000010.10:g.9519829_9520121del dbRIP deletion not within known transcription unit 1 dbRIP_1001072 NC_000010.10:g.46902194_46902195ins dbRIP insertion intron 1 dbRIP_1001073 NC_000010.10:g.54860821_54861130del dbRIP deletion not within known transcription unit 1 dbRIP_1001074 NC_000010.10:g.59015227_59015559del dbRIP deletion not within known transcription unit 1 dbRIP_1001075 NC_000010.10:g.66851920_66852225del dbRIP deletion not within known transcription unit 1 dbRIP_1001076 NC_000010.10:g.91547399_91547720del dbRIP deletion not within known transcription unit 1 dbRIP_1001077 NC_000010.10:g.92969229_92969550del dbRIP deletion not within known transcription unit 1 dbRIP_1001078 NC_000010.10:g.131373897_131373935del dbRIP deletion intron 1 dbRIP_1001079 NC_000010.10:g.111036395_111036699del dbRIP deletion not within known transcription unit 1 dbRIP_1001080 NC_000010.10:g.119634284_119634605del dbRIP deletion not within known transcription unit 1 dbRIP_1001081 NC_000010.10:g.129565314_129565608del dbRIP deletion not within known transcription unit 1 dbRIP_1001082 NC_000010.10:g.130156353_130156669del dbRIP deletion not within known transcription unit 1 dbRIP_1001083 NC_000010.10:g.132858490_132858821del dbRIP deletion not within known transcription unit 1 dbRIP_1001084 NC_000010.10:g.5007446_5007755del dbRIP deletion intron 1 dbRIP_1001085 NC_000010.10:g.46697907_46698206del dbRIP deletion not within known transcription unit 1 dbRIP_1001086 NC_000010.10:g.46834441_46834751del dbRIP deletion not within known transcription unit 1 dbRIP_1001087 NC_000010.10:g.49022912_49023239del dbRIP deletion not within known transcription unit 1 dbRIP_1001088 NC_000011.9:g.112196446_112196447ins dbRIP insertion not within known transcription unit 1 dbRIP_1001089 NC_000011.9:g.27307887_27308202del dbRIP deletion not within known transcription unit 1 dbRIP_1001090 NC_000011.9:g.31916728_31917042del dbRIP deletion not within known transcription unit 1 dbRIP_1001091 NC_000011.9:g.33537688_33537996del dbRIP deletion not within known transcription unit 1 dbRIP_1001092 NC_000011.9:g.115750476_115750477ins dbRIP insertion not within known transcription unit 1 dbRIP_1001093 NC_000011.9:g.37666647_37666942del dbRIP deletion not within known transcription unit 1 dbRIP_1001094 NC_000011.9:g.41007033_41007340del dbRIP deletion not within known transcription unit 1 dbRIP_1001095 NC_000011.9:g.57962844_57963157del dbRIP deletion not within known transcription unit 1 dbRIP_1001096 NC_000011.9:g.58220622_58220934del dbRIP deletion not within known transcription unit 1 dbRIP_1001097 NC_000011.9:g.58809303_58809617del dbRIP deletion not within known transcription unit 1 dbRIP_1001098 NC_000011.9:g.61107801_61108125del dbRIP deletion intron 1 dbRIP_1001099 NC_000011.9:g.71861610_71861912del dbRIP deletion not within known transcription unit 1 dbRIP_1001100 NC_000011.9:g.74145072_74145406del dbRIP deletion not within known transcription unit 1 dbRIP_1001101 NC_000011.9:g.14741987_14741988ins dbRIP insertion intron 1 dbRIP_1001102 NC_000011.9:g.93102816_93103118del dbRIP deletion intron 1 dbRIP_1001103 NC_000011.9:g.99276337_99276663del dbRIP deletion intron 1 dbRIP_1001104 NC_000011.9:g.101290011_101290317del dbRIP deletion not within known transcription unit 1 dbRIP_1001105 NC_000011.9:g.102471859_102472162del dbRIP deletion intron 1 dbRIP_1001106 NC_000011.9:g.93622_93928del dbRIP deletion not within known transcription unit 1 dbRIP_1001107 NC_000011.9:g.47017847_47018116del dbRIP deletion intron 1 dbRIP_1001108 NC_000011.9:g.27822230_27822418del dbRIP deletion not within known transcription unit 1 dbRIP_1001109 NC_000012.11:g.32963616_32963914del dbRIP deletion intron 1 dbRIP_1001110 NC_000012.11:g.41659832_41660133del dbRIP deletion intron 1 dbRIP_1001111 NC_000012.11:g.20862534_20862857del dbRIP deletion intron 1 dbRIP_1001112 NC_000012.11:g.83959231_83959533del dbRIP deletion not within known transcription unit 1 dbRIP_1001113 NC_000012.11:g.27434004_27434322del dbRIP deletion intron 1 dbRIP_1001114 NC_000013.10:g.19476811_19477098del dbRIP deletion not within known transcription unit 1 dbRIP_1001115 NC_000013.10:g.60172500_60172823del dbRIP deletion not within known transcription unit 1 dbRIP_1001116 NC_000013.10:g.63656194_63656510del dbRIP deletion not within known transcription unit 1 dbRIP_1001117 NC_000013.10:g.81747255_81747564del dbRIP deletion not within known transcription unit 1 dbRIP_1001118 NC_000013.10:g.91160053_91160289del dbRIP deletion not within known transcription unit 1 dbRIP_1001119 NC_000013.10:g.113790950_113791263del dbRIP deletion intron 1 dbRIP_1001120 NC_000013.10:g.63523817_63524119del dbRIP deletion not within known transcription unit 1 dbRIP_1001121 NC_000013.10:g.64377103_64377399del dbRIP deletion not within known transcription unit 1 dbRIP_1001122 NC_000013.10:g.52267800_52267801ins dbRIP insertion intron 1 dbRIP_1001123 NC_000013.10:g.96633437_96633740del dbRIP deletion intron 1 dbRIP_1001124 NC_000013.10:g.101242078_101242381del dbRIP deletion not within known transcription unit 1 dbRIP_1001125 NC_000013.10:g.99678281_99678351del dbRIP deletion intron 1 dbRIP_1001126 NC_000014.8:g.31263001_31263314del dbRIP deletion not within known transcription unit 1 dbRIP_1001127 NC_000014.8:g.34290049_34290374del dbRIP deletion not within known transcription unit 1 dbRIP_1001128 NC_000014.8:g.46342413_46342726del dbRIP deletion not within known transcription unit 1 dbRIP_1001129 NC_000014.8:g.46577938_46578243del dbRIP deletion not within known transcription unit 1 dbRIP_1001130 NC_000014.8:g.57373140_57373422del dbRIP deletion intron 1 dbRIP_1001131 NC_000014.8:g.74666838_74667144del dbRIP deletion downstream 1 dbRIP_1001132 NC_000014.8:g.35401414_35401723del dbRIP deletion not within known transcription unit 1 dbRIP_1001133 NC_000014.8:g.54564067_54564385del dbRIP deletion not within known transcription unit 1 dbRIP_1001134 NC_000014.8:g.50118888_50119027del dbRIP deletion intron 1 dbRIP_1001135 NC_000015.9:g.23426847_23427163del dbRIP deletion not within known transcription unit 1 dbRIP_1001136 NC_000015.9:g.24839333_24839640del dbRIP deletion not within known transcription unit 1 dbRIP_1001137 NC_000015.9:g.35009034_35009352del dbRIP deletion not within known transcription unit 1 dbRIP_1001138 NC_000015.9:g.46048933_46049229del dbRIP deletion not within known transcription unit 1 dbRIP_1001139 NC_000015.9:g.54182341_54182644del dbRIP deletion not within known transcription unit 1 dbRIP_1001140 NC_000015.9:g.59712899_59713217del dbRIP deletion not within known transcription unit 1 dbRIP_1001141 NC_000015.9:g.66633825_66634133del dbRIP deletion not within known transcription unit 1 dbRIP_1001142 NC_000015.9:g.28316135_28316136ins dbRIP insertion intron 1 dbRIP_1001143 NC_000015.9:g.77910873_77911236del dbRIP deletion intron 1 dbRIP_1001144 NC_000015.9:g.91402113_91402416del dbRIP deletion not within known transcription unit 1 dbRIP_1001145 NC_000015.9:g.102332543_102332845del dbRIP deletion not within known transcription unit 1 dbRIP_1001146 NC_000015.9:g.82948694_82948979del dbRIP deletion intron 1 dbRIP_1001147 NC_000015.9:g.90959816_90960109del dbRIP deletion intron 1 dbRIP_1001148 NC_000016.9:g.12002337_12002647del dbRIP deletion intron 1 dbRIP_1001149 NC_000016.9:g.31985265_31985589del dbRIP deletion not within known transcription unit 1 dbRIP_1001150 NC_000016.9:g.32801325_32801632del dbRIP deletion not within known transcription unit 1 dbRIP_1001151 NC_000016.9:g.33335547_33335548ins dbRIP insertion not within known transcription unit 1 dbRIP_1001152 NC_000016.9:g.46527005_46527006ins dbRIP insertion intron 1 dbRIP_1001153 NC_000016.9:g.81845654_81845958del dbRIP deletion intron 1 dbRIP_1001154 NC_000016.9:g.34336429_34336730del dbRIP deletion not within known transcription unit 1 dbRIP_1001155 NC_000016.9:g.30211658_30211978del dbRIP deletion intron 1 dbRIP_1001156 NC_000017.10:g.5464752_5465062del dbRIP deletion intron 1 dbRIP_1001157 NC_000017.10:g.6874737_6875034del dbRIP deletion not within known transcription unit 1 dbRIP_1001158 NC_000017.10:g.15863587_15863891del dbRIP deletion intron 1 dbRIP_1001159 NC_000017.10:g.36396692_36397008del dbRIP deletion not within known transcription unit 1 dbRIP_1001160 NC_000017.10:g.45535379_45535673del dbRIP deletion not within known transcription unit 1 dbRIP_1001161 NC_000017.10:g.47228454_47228772del dbRIP deletion intron 1 dbRIP_1001162 NC_000017.10:g.65520866_65521184del dbRIP deletion intron 1 dbRIP_1001163 NC_000017.10:g.66004366_66004671del dbRIP deletion not within known transcription unit 1 dbRIP_1001164 NC_000017.10:g.1230438_1230439ins dbRIP insertion not within known transcription unit 1 dbRIP_1001165 NC_000017.10:g.10203435_10203771del dbRIP deletion downstream 1 dbRIP_1001166 NC_000017.10:g.18959889_18960184del dbRIP deletion not within known transcription unit 1 dbRIP_1001167 NC_000017.10:g.15632477_15632776del dbRIP deletion not within known transcription unit 1 dbRIP_1001168 NC_000017.10:g.30338022_30338314del dbRIP deletion not within known transcription unit 1 dbRIP_1001169 NC_000017.10:g.62663937_62664247del dbRIP deletion not within known transcription unit 1 dbRIP_1001170 NC_000017.10:g.66207362_66207660del dbRIP deletion not within known transcription unit 1 dbRIP_1001171 NC_000017.10:g.43566024_43566330del dbRIP deletion intron 1 dbRIP_1001172 NC_000017.10:g.43649597_43649900del dbRIP deletion not within known transcription unit 1 dbRIP_1001173 NC_000017.10:g.65995105_65995414del dbRIP deletion not within known transcription unit 1 dbRIP_1001174 NC_000018.9:g.14374634_14374940del dbRIP deletion not within known transcription unit 1 dbRIP_1001175 NC_000018.9:g.26363759_26364066del dbRIP deletion not within known transcription unit 1 dbRIP_1001176 NC_000018.9:g.31746720_31747042del dbRIP deletion intron 1 dbRIP_1001177 NC_000018.9:g.32661973_32662274del dbRIP deletion intron 1 dbRIP_1001178 NC_000018.9:g.37061647_37061963del dbRIP deletion intron 1 dbRIP_1001179 NC_000018.9:g.47019869_47020173del dbRIP deletion not within known transcription unit 1 dbRIP_1001180 NC_000018.9:g.62385781_62386081del dbRIP deletion not within known transcription unit 1 dbRIP_1001181 NC_000018.9:g.63533254_63533582del dbRIP deletion intron 1 dbRIP_1001182 NC_000018.9:g.71273414_71273717del dbRIP deletion not within known transcription unit 1 dbRIP_1001183 NC_000018.9:g.22892495_22892804del dbRIP deletion intron 1 dbRIP_1001184 NC_000018.9:g.57668870_57669168del dbRIP deletion not within known transcription unit 1 dbRIP_1001185 NC_000018.9:g.75997297_75997616del dbRIP deletion not within known transcription unit 1 dbRIP_1001186 NC_000018.9:g.55345940_55346154del dbRIP deletion intron 1 dbRIP_1001187 NC_000019.9:g.8514426_8514718del dbRIP deletion intron 1 dbRIP_1001188 NC_000019.9:g.19967363_19967664del dbRIP deletion not within known transcription unit 1 dbRIP_1001189 NC_000001.10:g.26489823_26490135del dbRIP deletion not within known transcription unit 1 dbRIP_1001190 NC_000001.10:g.68013874_68013875ins dbRIP insertion not within known transcription unit 1 dbRIP_1001191 NC_000001.10:g.46366121_46366436del dbRIP deletion intron 1 dbRIP_1001192 NC_000001.10:g.57242626_57242946del dbRIP deletion intron 1 dbRIP_1001193 NC_000001.10:g.93358911_93358912ins dbRIP insertion intron 1 dbRIP_1001194 NC_000001.10:g.67201223_67201536del dbRIP deletion intron 1 dbRIP_1001195 NC_000001.10:g.86405806_86406121del dbRIP deletion intron 1 dbRIP_1001196 NC_000001.10:g.91624788_91625056del dbRIP deletion not within known transcription unit 1 dbRIP_1001197 NC_000001.10:g.14712758_14712759ins dbRIP insertion not within known transcription unit 1 dbRIP_1001198 NC_000001.10:g.158629388_158629699del dbRIP deletion intron 1 dbRIP_1001199 NC_000001.10:g.160935036_160935338del dbRIP deletion not within known transcription unit 1 dbRIP_1001200 NC_000001.10:g.164520924_164521236del dbRIP deletion not within known transcription unit 1 dbRIP_1001201 NC_000001.10:g.180293003_180293313del dbRIP deletion intron 1 dbRIP_1001202 NC_000001.10:g.225762315_225762620del dbRIP deletion intron 1 dbRIP_1001203 NC_000001.10:g.228572174_228572489del dbRIP deletion not within known transcription unit 1 dbRIP_1001204 NC_000001.10:g.228814815_228815141del dbRIP deletion not within known transcription unit 1 dbRIP_1001205 NC_000001.10:g.235547541_235547542ins dbRIP insertion intron 1 dbRIP_1001206 NC_000001.10:g.62390603_62390938del dbRIP deletion intron 1 dbRIP_1001207 NC_000001.10:g.69807005_69807311del dbRIP deletion not within known transcription unit 1 dbRIP_1001208 NC_000001.10:g.118091052_118091258del dbRIP deletion not within known transcription unit 1 dbRIP_1001209 NC_000001.10:g.4305140_4305141ins dbRIP insertion not within known transcription unit 1 dbRIP_1001210 NC_000020.10:g.2864017_2864321del dbRIP deletion intron 1 dbRIP_1001211 NC_000020.10:g.17103451_17103774del dbRIP deletion not within known transcription unit 1 dbRIP_1001212 NC_000020.10:g.35608824_35609125del dbRIP deletion not within known transcription unit 1 dbRIP_1001213 NC_000021.8:g.39590543_39590872del dbRIP deletion not within known transcription unit 1 dbRIP_1001214 NC_000021.8:g.14416320_14416633del dbRIP deletion intron 1 dbRIP_1001215 NC_000022.10:g.17034649_17034954del dbRIP deletion not within known transcription unit 1 dbRIP_1001216 NC_000022.10:g.42905973_42906268del dbRIP deletion intron 1 dbRIP_1001217 NC_000002.11:g.20666679_20666972del dbRIP deletion not within known transcription unit 1 dbRIP_1001218 NC_000002.11:g.43658983_43659294del dbRIP deletion intron 1 dbRIP_1001219 NC_000002.11:g.49612899_49613205del dbRIP deletion not within known transcription unit 1 dbRIP_1001220 NC_000002.11:g.82340459_82340765del dbRIP deletion not within known transcription unit 1 dbRIP_1001221 NC_000002.11:g.85519119_85519442del dbRIP deletion intron 1 dbRIP_1001222 NC_000002.11:g.91689543_91689850del dbRIP deletion not within known transcription unit 1 dbRIP_1001223 NC_000002.11:g.101975215_101975536del dbRIP deletion intron 1 dbRIP_1001224 NC_000002.11:g.102097854_102098165del dbRIP deletion not within known transcription unit 1 dbRIP_1001225 NC_000002.11:g.113616061_113616367del dbRIP deletion not within known transcription unit 1 dbRIP_1001226 NC_000002.11:g.117893064_117893389del dbRIP deletion not within known transcription unit 1 dbRIP_1001227 NC_000002.11:g.128871273_128871569del dbRIP deletion intron 1 dbRIP_1001228 NC_000002.11:g.158719101_158719396del dbRIP deletion intron 1 dbRIP_1001229 NC_000002.11:g.181925838_181926149del dbRIP deletion intron 1 dbRIP_1001230 NC_000002.11:g.182565256_182565568del dbRIP deletion not within known transcription unit 1 dbRIP_1001231 NC_000002.11:g.192559414_192559731del dbRIP deletion not within known transcription unit 1 dbRIP_1001232 NC_000002.11:g.192562206_192562529del dbRIP deletion not within known transcription unit 1 dbRIP_1001233 NC_000002.11:g.196031321_196031614del dbRIP deletion not within known transcription unit 1 dbRIP_1001234 NC_000002.11:g.209061169_209061477del dbRIP deletion not within known transcription unit 1 dbRIP_1001235 NC_000002.11:g.212551260_212551542del dbRIP deletion intron 1 dbRIP_1001236 NC_000002.11:g.236094684_236095000del dbRIP deletion not within known transcription unit 1 dbRIP_1001237 NC_000002.11:g.9959238_9959573del dbRIP deletion not within known transcription unit 1 dbRIP_1001238 NC_000002.11:g.5209191_5209504del dbRIP deletion not within known transcription unit 1 dbRIP_1001239 NC_000002.11:g.87339716_87340027del dbRIP deletion not within known transcription unit 1 dbRIP_1001240 NC_000002.11:g.203717800_203718092del dbRIP deletion not within known transcription unit 1 dbRIP_1001241 NC_000002.11:g.204563681_204563980del dbRIP deletion not within known transcription unit 1 dbRIP_1001242 NC_000002.11:g.208959121_208959453del dbRIP deletion not within known transcription unit 1 dbRIP_1001243 NC_000003.11:g.3873218_3873533del dbRIP deletion intron 1 dbRIP_1001244 NC_000003.11:g.18755831_18756127del dbRIP deletion not within known transcription unit 1 dbRIP_1001245 NC_000003.11:g.21457509_21457821del dbRIP deletion not within known transcription unit 1 dbRIP_1001246 NC_000003.11:g.26786720_26787026del dbRIP deletion not within known transcription unit 1 dbRIP_1001247 NC_000003.11:g.61475061_61475371del dbRIP deletion not within known transcription unit 1 dbRIP_1001248 NC_000003.11:g.81907508_81907812del dbRIP deletion not within known transcription unit 1 dbRIP_1001249 NC_000003.11:g.110219425_110219719del dbRIP deletion not within known transcription unit 1 dbRIP_1001250 NC_000003.11:g.114466484_114466791del dbRIP deletion not within known transcription unit 1 dbRIP_1001251 NC_000003.11:g.126358939_126359249del dbRIP deletion not within known transcription unit 1 dbRIP_1001252 NC_000003.11:g.129912696_129912999del dbRIP deletion not within known transcription unit 1 dbRIP_1001253 NC_000003.11:g.402929_402930ins dbRIP insertion intron 1 dbRIP_1001254 NC_000003.11:g.185017344_185017653del dbRIP deletion not within known transcription unit 1 dbRIP_1001255 NC_000003.11:g.190669808_190670121del dbRIP deletion not within known transcription unit 1 dbRIP_1001256 NC_000003.11:g.10397476_10397805del dbRIP deletion intron 1 dbRIP_1001257 NC_000003.11:g.32203875_32204143del dbRIP deletion intron 1 dbRIP_1001258 NC_000003.11:g.1501421_1501422ins dbRIP insertion not within known transcription unit 1 dbRIP_1001259 NC_000004.11:g.4041235_4041553del dbRIP deletion not within known transcription unit 1 dbRIP_1001260 NC_000004.11:g.28564301_28564610del dbRIP deletion not within known transcription unit 1 dbRIP_1001261 NC_000004.11:g.55482437_55482740del dbRIP deletion not within known transcription unit 1 dbRIP_1001262 NC_000004.11:g.61569242_61569558del dbRIP deletion not within known transcription unit 1 dbRIP_1001263 NC_000004.11:g.69790874_69791166del dbRIP deletion not within known transcription unit 1 dbRIP_1001264 NC_000004.11:g.81302537_81302865del dbRIP deletion intron 1 dbRIP_1001265 NC_000004.11:g.87385694_87385984del dbRIP deletion not within known transcription unit 1 dbRIP_1001266 NC_000004.11:g.88032153_88032469del dbRIP deletion intron 1 dbRIP_1001267 NC_000004.11:g.88775650_88775952del dbRIP deletion not within known transcription unit 1 dbRIP_1001268 NC_000004.11:g.89681474_89681782del dbRIP deletion intron 1 dbRIP_1001269 NC_000004.11:g.97572115_97572421del dbRIP deletion not within known transcription unit 1 dbRIP_1001270 NC_000004.11:g.115624609_115624870del dbRIP deletion not within known transcription unit 1 dbRIP_1001271 NC_000004.11:g.121407661_121407970del dbRIP deletion not within known transcription unit 1 dbRIP_1001272 NC_000004.11:g.125867374_125867690del dbRIP deletion not within known transcription unit 1 dbRIP_1001273 NC_000004.11:g.133819614_133819923del dbRIP deletion not within known transcription unit 1 dbRIP_1001274 NC_000004.11:g.134141618_134141912del dbRIP deletion not within known transcription unit 1 dbRIP_1001275 NC_000004.11:g.157002045_157002343del dbRIP deletion not within known transcription unit 1 dbRIP_1001276 NC_000004.11:g.187795712_187796018del dbRIP deletion not within known transcription unit 1 dbRIP_1001277 NC_000004.11:g.81456499_81456677del dbRIP deletion intron 1 dbRIP_1001278 NC_000004.11:g.137218859_137218860ins dbRIP insertion not within known transcription unit 1 dbRIP_1001279 NC_000004.11:g.31205828_31206134del dbRIP deletion not within known transcription unit 1 dbRIP_1001280 NC_000004.11:g.46668145_46668146ins dbRIP insertion not within known transcription unit 1 dbRIP_1001281 NC_000004.11:g.147459043_147459354del dbRIP deletion not within known transcription unit 1 dbRIP_1001282 NC_000004.11:g.151473950_151474251del dbRIP deletion not within known transcription unit 1 dbRIP_1001283 NC_000004.11:g.44870723_44870899del dbRIP deletion not within known transcription unit 1 dbRIP_1001284 NC_000005.9:g.13855316_13855616del dbRIP deletion intron 1 dbRIP_1001285 NC_000005.9:g.17924042_17924353del dbRIP deletion not within known transcription unit 1 dbRIP_1001286 NC_000005.9:g.21338256_21338545del dbRIP deletion not within known transcription unit 1 dbRIP_1001287 NC_000005.9:g.23413766_23414067del dbRIP deletion not within known transcription unit 1 dbRIP_1001288 NC_000005.9:g.24091623_24091932del dbRIP deletion not within known transcription unit 1 dbRIP_1001289 NC_000005.9:g.24452853_24453161del dbRIP deletion not within known transcription unit 1 dbRIP_1001290 NC_000005.9:g.26111203_26111514del dbRIP deletion not within known transcription unit 1 dbRIP_1001291 NC_000005.9:g.31677442_31677748del dbRIP deletion not within known transcription unit 1 dbRIP_1001292 NC_000005.9:g.61776732_61777044del dbRIP deletion intron 1 dbRIP_1001293 NC_000005.9:g.70190930_70191245del dbRIP deletion not within known transcription unit 1 dbRIP_1001294 NC_000005.9:g.77105233_77105550del dbRIP deletion not within known transcription unit 1 dbRIP_1001295 NC_000005.9:g.88032030_88032343del dbRIP deletion intron 1 dbRIP_1001296 NC_000005.9:g.95909732_95910061del dbRIP deletion not within known transcription unit 1 dbRIP_1001297 NC_000005.9:g.103030568_103030879del dbRIP deletion not within known transcription unit 1 dbRIP_1001298 NC_000005.9:g.116428196_116428500del dbRIP deletion not within known transcription unit 1 dbRIP_1001299 NC_000005.9:g.141423770_141423771ins dbRIP insertion not within known transcription unit 1 dbRIP_1001300 NC_000005.9:g.147321650_147321651ins dbRIP insertion not within known transcription unit 1 dbRIP_1001301 NC_000005.9:g.158592405_158592736del dbRIP deletion intron 1 dbRIP_1001302 NC_000005.9:g.160431315_160431636del dbRIP deletion not within known transcription unit 1 dbRIP_1001303 NC_000005.9:g.89860436_89860742del dbRIP deletion intron 1 dbRIP_1001304 NC_000005.9:g.11339039_11339349del dbRIP deletion intron 1 dbRIP_1001305 NC_000005.9:g.62704452_62704761del dbRIP deletion not within known transcription unit 1 dbRIP_1001306 NC_000005.9:g.168742540_168742760del dbRIP deletion not within known transcription unit 1 dbRIP_1001307 NC_000005.9:g.172700248_172700559del dbRIP deletion not within known transcription unit 1 dbRIP_1001308 NC_000005.9:g.177381365_177381659del dbRIP deletion not within known transcription unit 1 dbRIP_1001309 NC_000005.9:g.57923181_57923343del dbRIP deletion intron 1 dbRIP_1001310 NC_000006.11:g.9075297_9075608del dbRIP deletion not within known transcription unit 1 dbRIP_1001311 NC_000006.11:g.11556107_11556412del dbRIP deletion intron 1 dbRIP_1001312 NC_000006.11:g.23686003_23686314del dbRIP deletion not within known transcription unit 1 dbRIP_1001313 NC_000006.11:g.29998496_29998497ins dbRIP insertion not within known transcription unit 1 dbRIP_1001314 NC_000006.11:g.41404077_41404383del dbRIP deletion not within known transcription unit 1 dbRIP_1001315 NC_000006.11:g.41953365_41953665del dbRIP deletion intron 1 dbRIP_1001316 NC_000006.11:g.109860128_109860183del dbRIP deletion intron 1 dbRIP_1001317 NC_000006.11:g.88320258_88320570del dbRIP deletion intron 1 dbRIP_1001318 NC_000006.11:g.114755512_114755823del dbRIP deletion not within known transcription unit 1 dbRIP_1001319 NC_000006.11:g.163263931_163263932ins dbRIP insertion intron 1 dbRIP_1001320 NC_000006.11:g.159652128_159652425del dbRIP deletion intron 1 dbRIP_1001321 NC_000006.11:g.6277356_6277602del dbRIP deletion intron 1 dbRIP_1001322 NC_000006.11:g.17472284_17472582del dbRIP deletion intron 1 dbRIP_1001323 NC_000006.11:g.68260201_68260505del dbRIP deletion not within known transcription unit 1 dbRIP_1001324 NC_000006.11:g.77920121_77920413del dbRIP deletion not within known transcription unit 1 dbRIP_1001325 NC_000006.11:g.107124533_107124834del dbRIP deletion not within known transcription unit 1 dbRIP_1001326 NC_000006.11:g.18547956_18547957ins dbRIP insertion not within known transcription unit 1 dbRIP_1001327 NC_000006.11:g.159666777_159667084del dbRIP deletion intron 1 dbRIP_1001328 NC_000006.11:g.160981933_160982205del dbRIP deletion intron 1 dbRIP_1001329 NC_000006.11:g.171014846_171015145del dbRIP deletion not within known transcription unit 1 dbRIP_1001330 NC_000007.13:g.16936301_16936626del dbRIP deletion not within known transcription unit 1 dbRIP_1001331 NC_000007.13:g.27783389_27783723del dbRIP deletion intron 1 dbRIP_1001332 NC_000007.13:g.47895192_47895497del dbRIP deletion intron 1 dbRIP_1001333 NC_000007.13:g.104033041_104200524del dbRIP deletion intron 1 dbRIP_1001334 NC_000007.13:g.133107691_133108004del dbRIP deletion intron 1 dbRIP_1001335 NC_000007.13:g.142860634_142860635ins dbRIP insertion not within known transcription unit 1 dbRIP_1001336 NC_000007.13:g.154941933_154942244del dbRIP deletion not within known transcription unit 1 dbRIP_1001337 NC_000007.13:g.77959653_77959960del dbRIP deletion intron 1 dbRIP_1001338 NC_000007.13:g.82946478_82946780del dbRIP deletion not within known transcription unit 1 dbRIP_1001339 NC_000007.13:g.31070591_31070906del dbRIP deletion not within known transcription unit 1 dbRIP_1001340 NC_000007.13:g.136834467_136834751del dbRIP deletion not within known transcription unit 1 dbRIP_1001341 NC_000008.10:g.4222065_4222392del dbRIP deletion intron 1 dbRIP_1001342 NC_000008.10:g.11934307_11934616del dbRIP deletion not within known transcription unit 1 dbRIP_1001343 NC_000008.10:g.12528717_12529030del dbRIP deletion not within known transcription unit 1 dbRIP_1001344 NC_000008.10:g.31571256_31571594del dbRIP deletion not within known transcription unit 1 dbRIP_1001345 NC_000008.10:g.47381319_47381640del dbRIP deletion not within known transcription unit 1 dbRIP_1001346 NC_000008.10:g.48919429_48919732del dbRIP deletion not within known transcription unit 1 dbRIP_1001347 NC_000008.10:g.89392219_89392515del dbRIP deletion not within known transcription unit 1 dbRIP_1001348 NC_000008.10:g.92152870_92153180del dbRIP deletion intron 1 dbRIP_1001349 NC_000008.10:g.98595407_98595731del dbRIP deletion not within known transcription unit 1 dbRIP_1001350 NC_000008.10:g.106670535_106670838del dbRIP deletion intron 1 dbRIP_1001351 NC_000008.10:g.118712804_118713119del dbRIP deletion not within known transcription unit 1 dbRIP_1001352 NC_000008.10:g.121681686_121681991del dbRIP deletion intron 1 dbRIP_1001353 NC_000008.10:g.132168302_132168597del dbRIP deletion not within known transcription unit 1 dbRIP_1001354 NC_000008.10:g.138860562_138860873del dbRIP deletion not within known transcription unit 1 dbRIP_1001355 NC_000008.10:g.144723615_144723934del dbRIP deletion intron 1 dbRIP_1001356 NC_000008.10:g.39765331_39765646del dbRIP deletion not within known transcription unit 1 dbRIP_1001357 NC_000008.10:g.57014383_57014679del dbRIP deletion not within known transcription unit 1 dbRIP_1001358 NC_000008.10:g.72551419_72551739del dbRIP deletion not within known transcription unit 1 dbRIP_1001359 NC_000008.10:g.83004812_83005117del dbRIP deletion not within known transcription unit 1 dbRIP_1001360 NC_000008.10:g.108120235_108120537del dbRIP deletion not within known transcription unit 1 dbRIP_1001361 NC_000008.10:g.126336817_126337115del dbRIP deletion intron 1 dbRIP_1001362 NC_000009.11:g.4346672_4346969del dbRIP deletion not within known transcription unit 1 dbRIP_1001363 NC_000009.11:g.10498752_10499050del dbRIP deletion intron 1 dbRIP_1001364 NC_000009.11:g.13655423_13655745del dbRIP deletion not within known transcription unit 1 dbRIP_1001365 NC_000009.11:g.16389408_16389730del dbRIP deletion not within known transcription unit 1 dbRIP_1001366 NC_000009.11:g.29624707_29625012del dbRIP deletion not within known transcription unit 1 dbRIP_1001367 NC_000009.11:g.41673269_41673573del dbRIP deletion not within known transcription unit 1 dbRIP_1001368 NC_000009.11:g.119832262_119832263ins dbRIP insertion intron 1 dbRIP_1001369 NC_000009.11:g.75669531_75669796del dbRIP deletion not within known transcription unit 1 dbRIP_1001370 NC_000009.11:g.97292924_97293233del dbRIP deletion not within known transcription unit 1 dbRIP_1001371 NC_000009.11:g.112430213_112430515del dbRIP deletion intron 1 dbRIP_1001372 NC_000009.11:g.41011834_41012140del dbRIP deletion not within known transcription unit 1 dbRIP_1001373 NC_000009.11:g.115937098_115937379del dbRIP deletion intron 1 dbRIP_1001374 NC_000023.10:g.40505185_40505498del dbRIP deletion intron 1 dbRIP_1001375 NC_000023.10:g.48050349_48050638del dbRIP deletion intron 1 dbRIP_1001376 NC_000023.10:g.55680236_55680548del dbRIP deletion not within known transcription unit 1 dbRIP_1001377 NC_000023.10:g.88480732_88481031del dbRIP deletion not within known transcription unit 1 dbRIP_1001378 NC_000023.10:g.90923453_90923751del dbRIP deletion not within known transcription unit 1 dbRIP_1001379 NC_000023.10:g.91729883_91730190del dbRIP deletion intron 1 dbRIP_1001380 NC_000023.10:g.135157998_135158313del dbRIP deletion not within known transcription unit 1 dbRIP_1001381 NC_000023.10:g.138384911_138385220del dbRIP deletion not within known transcription unit 1 dbRIP_1001382 NC_000023.10:g.144436003_144436313del dbRIP deletion not within known transcription unit 1 dbRIP_1001383 NC_000023.10:g.149551149_149551472del dbRIP deletion not within known transcription unit 1 dbRIP_1001384 NC_000023.10:g.79072217_79072510del dbRIP deletion not within known transcription unit 1 dbRIP_1001385 NC_000023.10:g.92140606_92140901del dbRIP deletion not within known transcription unit 1 dbRIP_1001386 NC_000023.10:g.120090625_120090922del dbRIP deletion promoter 1 dbRIP_1001387 NC_000024.9:g.9012975_9013273del dbRIP deletion not within known transcription unit 1 dbRIP_1001388 NC_000010.10:g.48419952_48419953ins dbRIP insertion not within known transcription unit 1 dbRIP_1001389 NC_000010.10:g.132145588_132145589ins dbRIP insertion not within known transcription unit 1 dbRIP_1001390 NC_000010.10:g.117006343_117006344ins dbRIP insertion intron 1 dbRIP_1001391 NC_000010.10:g.96763985_96763986ins dbRIP insertion not within known transcription unit 1 dbRIP_1001392 NC_000010.10:g.89814978_89814979ins dbRIP insertion not within known transcription unit 1 dbRIP_1001393 NC_000010.10:g.122140604_122140605ins dbRIP insertion not within known transcription unit 1 dbRIP_1001394 NC_000010.10:g.68084666_68084667ins dbRIP insertion intron 1 dbRIP_1001395 NC_000010.10:g.68336767_68336768ins dbRIP insertion intron 1 dbRIP_1001396 NC_000010.10:g.72605421_72605422ins dbRIP insertion intron 1 dbRIP_1001397 NC_000010.10:g.73193548_73193549ins dbRIP insertion intron 1 dbRIP_1001398 NC_000010.10:g.29105299_29105300ins dbRIP insertion not within known transcription unit 1 dbRIP_1001399 NC_000010.10:g.3569026_3569027ins dbRIP insertion not within known transcription unit 1 dbRIP_1001400 NC_000011.9:g.106044582_106044583ins dbRIP insertion not within known transcription unit 1 dbRIP_1001401 NC_000011.9:g.122277650_122277651ins dbRIP insertion not within known transcription unit 1 dbRIP_1001402 NC_000011.9:g.38801076_38801077ins dbRIP insertion not within known transcription unit 1 dbRIP_1001403 NC_000011.9:g.16019995_16019996ins dbRIP insertion intron 1 dbRIP_1001404 NC_000011.9:g.48933126_48933127ins dbRIP insertion not within known transcription unit 1 dbRIP_1001405 NC_000011.9:g.61145213_61145214ins dbRIP insertion not within known transcription unit 1 dbRIP_1001406 NC_000011.9:g.65503489_65503490ins dbRIP insertion not within known transcription unit 1 dbRIP_1001407 NC_000012.11:g.22123797_22123798ins dbRIP insertion not within known transcription unit 1 dbRIP_1001408 NC_000012.11:g.61704148_61704149ins dbRIP insertion not within known transcription unit 1 dbRIP_1001409 NC_000012.11:g.85617739_85617740ins dbRIP insertion intron 1 dbRIP_1001410 NC_000012.11:g.87870824_87870825ins dbRIP insertion not within known transcription unit 1 dbRIP_1001411 NC_000012.11:g.98163403_98163404ins dbRIP insertion not within known transcription unit 1 dbRIP_1001412 NC_000012.11:g.131424211_131424224del dbRIP deletion not within known transcription unit 1 dbRIP_1001413 NC_000013.10:g.59396896_59396897ins dbRIP insertion not within known transcription unit 1 dbRIP_1001414 NC_000013.10:g.61787419_61787420ins dbRIP insertion not within known transcription unit 1 dbRIP_1001415 NC_000013.10:g.67903471_67903472ins dbRIP insertion not within known transcription unit 1 dbRIP_1001416 NC_000013.10:g.78651688_78651689ins dbRIP insertion not within known transcription unit 1 dbRIP_1001417 NC_000013.10:g.80772343_80772344ins dbRIP insertion not within known transcription unit 1 dbRIP_1001418 NC_000013.10:g.22188495_22188496ins dbRIP insertion not within known transcription unit 1 dbRIP_1001419 NC_000013.10:g.41858211_41858212ins dbRIP insertion not within known transcription unit 1 dbRIP_1001420 NC_000013.10:g.42940089_42940090ins dbRIP insertion not within known transcription unit 1 dbRIP_1001421 NC_000013.10:g.87392964_87392965ins dbRIP insertion not within known transcription unit 1 dbRIP_1001422 NC_000013.10:g.92261287_92261288ins dbRIP insertion intron 1 dbRIP_1001423 NC_000013.10:g.93828419_93828420ins dbRIP insertion not within known transcription unit 1 dbRIP_1001424 NC_000013.10:g.100082628_100082629ins dbRIP insertion not within known transcription unit 1 dbRIP_1001425 NC_000013.10:g.108669031_108669032ins dbRIP insertion not within known transcription unit 1 dbRIP_1001426 NC_000013.10:g.112993799_112993800ins dbRIP insertion not within known transcription unit 1 dbRIP_1001427 NC_000013.10:g.113520968_113520969ins dbRIP insertion intron 1 dbRIP_1001428 NC_000013.10:g.90947656_90947657ins dbRIP insertion not within known transcription unit 1 dbRIP_1001429 NC_000014.8:g.40312963_40312964ins dbRIP insertion not within known transcription unit 1 dbRIP_1001430 NC_000014.8:g.38359644_38359645ins dbRIP insertion not within known transcription unit 1 dbRIP_1001431 NC_000014.8:g.56437926_56437927ins dbRIP insertion not within known transcription unit 1 dbRIP_1001432 NC_000014.8:g.60575500_60575501ins dbRIP insertion intron 1 dbRIP_1001433 NC_000014.8:g.95024622_95024623ins dbRIP insertion not within known transcription unit 1 dbRIP_1001434 NC_000014.8:g.60741401_60741402ins dbRIP insertion intron 1 dbRIP_1001435 NC_000015.9:g.26872524_26872525ins dbRIP insertion intron 1 dbRIP_1001436 NC_000015.9:g.44502015_44502016ins dbRIP insertion not within known transcription unit 1 dbRIP_1001437 NC_000015.9:g.60657244_60657245ins dbRIP insertion intron 1 dbRIP_1001438 NC_000015.9:g.36096322_36096323ins dbRIP insertion not within known transcription unit 1 dbRIP_1001439 NC_000015.9:g.39691606_39691607ins dbRIP insertion not within known transcription unit 1 dbRIP_1001440 NC_000015.9:g.82035666_82035667ins dbRIP insertion not within known transcription unit 1 dbRIP_1001441 NC_000015.9:g.78936672_78936673ins dbRIP insertion not within known transcription unit 1 dbRIP_1001442 NC_000015.9:g.100810991_100810992ins dbRIP insertion intron 1 dbRIP_1001443 NC_000015.9:g.100812818_100812819ins dbRIP insertion intron 1 dbRIP_1001444 NC_000016.9:g.22846018_22846019ins dbRIP insertion intron 1 dbRIP_1001445 NC_000016.9:g.73075311_73075312ins dbRIP insertion intron 1 dbRIP_1001446 NC_000016.9:g.83666375_83666376ins dbRIP insertion intron 1 dbRIP_1001447 NC_000017.10:g.30893860_30893861ins dbRIP insertion intron 1 dbRIP_1001448 NC_000017.10:g.66094734_66094986del dbRIP deletion not within known transcription unit 1 dbRIP_1001449 NC_000017.10:g.66088276_66088578del dbRIP deletion not within known transcription unit 1 dbRIP_1001450 NC_000017.10:g.14527655_14527656ins dbRIP insertion not within known transcription unit 1 dbRIP_1001451 NC_000018.9:g.54706194_54706195ins dbRIP insertion not within known transcription unit 1 dbRIP_1001452 NC_000018.9:g.62173797_62173798ins dbRIP insertion not within known transcription unit 1 dbRIP_1001453 NC_000018.9:g.73953940_73953941ins dbRIP insertion not within known transcription unit 1 dbRIP_1001454 NC_000018.9:g.65138871_65138872ins dbRIP insertion not within known transcription unit 1 dbRIP_1001455 NC_000018.9:g.36512547_36512548ins dbRIP insertion not within known transcription unit 1 dbRIP_1001456 NC_000018.9:g.1235791_1235792ins dbRIP insertion not within known transcription unit 1 dbRIP_1001457 NC_000019.9:g.57425530_57425531ins dbRIP insertion not within known transcription unit 1 dbRIP_1001458 NC_000019.9:g.20745988_20745989ins dbRIP insertion intron 1 dbRIP_1001459 NC_000001.10:g.146346739_146347040del dbRIP deletion not within known transcription unit 1 dbRIP_1001460 NC_000001.10:g.105054083_105054084ins dbRIP insertion not within known transcription unit 1 dbRIP_1001461 NC_000001.10:g.1584472_1647681del dbRIP deletion intron 1 dbRIP_1001462 NC_000001.10:g.228959931_228959932ins dbRIP insertion not within known transcription unit 1 dbRIP_1001463 NC_000001.10:g.234070565_234070566ins dbRIP insertion intron 1 dbRIP_1001464 NC_000001.10:g.227602278_227602279ins dbRIP insertion not within known transcription unit 1 dbRIP_1001465 NC_000001.10:g.93498227_93498228ins dbRIP insertion not within known transcription unit 1 dbRIP_1001466 NC_000001.10:g.162761323_162761324ins dbRIP insertion intron 1 dbRIP_1001467 NC_000001.10:g.178397611_178397612ins dbRIP insertion intron 1 dbRIP_1001468 NC_000001.10:g.191580782_191580783ins dbRIP insertion not within known transcription unit 1 dbRIP_1001469 NC_000001.10:g.208691493_208691494ins dbRIP insertion not within known transcription unit 1 dbRIP_1001470 NC_000001.10:g.47542236_47542532del dbRIP deletion intron 1 dbRIP_1001471 NC_000001.10:g.80299105_80299106ins dbRIP insertion not within known transcription unit 1 dbRIP_1001472 NC_000020.10:g.53761851_53761852ins dbRIP insertion not within known transcription unit 1 dbRIP_1001473 NC_000021.8:g.32784236_32784237ins dbRIP insertion intron 1 dbRIP_1001474 NC_000021.8:g.44385911_44385912ins dbRIP insertion not within known transcription unit 1 dbRIP_1001475 NC_000002.11:g.202631461_202631462ins dbRIP insertion intron 1 dbRIP_1001476 NC_000002.11:g.65100047_65100048ins dbRIP insertion not within known transcription unit 1 dbRIP_1001477 NC_000002.11:g.39315340_39315341ins dbRIP insertion intron 1 dbRIP_1001478 NC_000002.11:g.31952211_31952212ins dbRIP insertion not within known transcription unit 1 dbRIP_1001479 NC_000002.11:g.21796828_21796829ins dbRIP insertion not within known transcription unit 1 dbRIP_1001480 NC_000002.11:g.652673_652674ins dbRIP insertion not within known transcription unit 1 dbRIP_1001481 NC_000002.11:g.84728756_84728757ins dbRIP insertion not within known transcription unit 1 dbRIP_1001482 NC_000002.11:g.65333803_65333804ins dbRIP insertion intron 1 dbRIP_1001483 NC_000002.11:g.63779236_63779237ins dbRIP insertion intron 1 dbRIP_1001484 NC_000002.11:g.11426376_11426377ins dbRIP insertion intron 1 dbRIP_1001485 NC_000002.11:g.182262201_182262202ins dbRIP insertion not within known transcription unit 1 dbRIP_1001486 NC_000002.11:g.178318730_178318731ins dbRIP insertion intron 1 dbRIP_1001487 NC_000002.11:g.178351467_178351468ins dbRIP insertion intron 1 dbRIP_1001488 NC_000002.11:g.154752616_154752617ins dbRIP insertion intron 1 dbRIP_1001489 NC_000003.11:g.4205146_4205147ins dbRIP insertion not within known transcription unit 1 dbRIP_1001490 NC_000003.11:g.31881399_31881400ins dbRIP insertion intron 1 dbRIP_1001491 NC_000003.11:g.48372327_48372328ins dbRIP insertion not within known transcription unit 1 dbRIP_1001492 NC_000003.11:g.19035453_19035454ins dbRIP insertion not within known transcription unit 1 dbRIP_1001493 NC_000003.11:g.87520482_87520483ins dbRIP insertion not within known transcription unit 1 dbRIP_1001494 NC_000003.11:g.76985884_76985885ins dbRIP insertion not within known transcription unit 1 dbRIP_1001495 NC_000003.11:g.169474322_169474323ins dbRIP insertion not within known transcription unit 1 dbRIP_1001496 NC_000003.11:g.141318609_141318610ins dbRIP insertion intron 1 dbRIP_1001497 NC_000003.11:g.124406523_124406524ins dbRIP insertion intron 1 dbRIP_1001498 NC_000003.11:g.120425475_120425476ins dbRIP insertion intron 1 dbRIP_1001499 NC_000003.11:g.110987479_110987480ins dbRIP insertion not within known transcription unit 1 dbRIP_1001500 NC_000003.11:g.110271030_110271031ins dbRIP insertion not within known transcription unit 1 dbRIP_1001501 NC_000003.11:g.100410559_100410560ins dbRIP insertion intron 1 dbRIP_1001502 NC_000003.11:g.166362314_166362315ins dbRIP insertion not within known transcription unit 1 dbRIP_1001503 NC_000003.11:g.103453397_103453398ins dbRIP insertion not within known transcription unit 1 dbRIP_1001504 NC_000003.11:g.100177267_100177268ins dbRIP insertion not within known transcription unit 1 dbRIP_1001505 NC_000003.11:g.187898599_187898600ins dbRIP insertion intron 1 dbRIP_1001506 NC_000003.11:g.155040676_155040677ins dbRIP insertion not within known transcription unit 1 dbRIP_1001507 NC_000004.11:g.132719200_132719201ins dbRIP insertion not within known transcription unit 1 dbRIP_1001508 NC_000004.11:g.26438631_26438632ins dbRIP insertion not within known transcription unit 1 dbRIP_1001509 NC_000004.11:g.43399988_43399989ins dbRIP insertion not within known transcription unit 1 dbRIP_1001510 NC_000004.11:g.138299006_138299007ins dbRIP insertion not within known transcription unit 1 dbRIP_1001511 NC_000004.11:g.181503037_181503038ins dbRIP insertion not within known transcription unit 1 dbRIP_1001512 NC_000004.11:g.180256970_180256971ins dbRIP insertion not within known transcription unit 1 dbRIP_1001513 NC_000004.11:g.175534306_175534307ins dbRIP insertion not within known transcription unit 1 dbRIP_1001514 NC_000004.11:g.174786708_174786709ins dbRIP insertion not within known transcription unit 1 dbRIP_1001515 NC_000004.11:g.167338800_167338801ins dbRIP insertion not within known transcription unit 1 dbRIP_1001516 NC_000004.11:g.164757764_164757765ins dbRIP insertion intron 1 dbRIP_1001517 NC_000004.11:g.151011640_151011641ins dbRIP insertion intron 1 dbRIP_1001518 NC_000004.11:g.104744617_104744618ins dbRIP insertion not within known transcription unit 1 dbRIP_1001519 NC_000004.11:g.67106617_67106618ins dbRIP insertion not within known transcription unit 1 dbRIP_1001520 NC_000004.11:g.79159516_79159517ins dbRIP insertion intron 1 VAR_053343 Q9NYW4:p.Gly20Ser SP substitution exon 1 dbRIP_1001521 NC_000004.11:g.82630149_82630242del dbRIP deletion not within known transcription unit 1 dbRIP_1001522 NC_000004.11:g.83340693_83340694ins dbRIP insertion not within known transcription unit 1 dbRIP_1001523 NC_000004.11:g.56371962_56371963ins dbRIP insertion intron 1 dbRIP_1001524 NC_000004.11:g.100376808_100376809ins dbRIP insertion not within known transcription unit 1 dbRIP_1001525 NC_000004.11:g.102041748_102041749ins dbRIP insertion intron 1 dbRIP_1001526 NC_000005.9:g.103464427_103464428ins dbRIP insertion not within known transcription unit 1 dbRIP_1001527 NC_000005.9:g.61857119_61857120ins dbRIP insertion intron 1 dbRIP_1001528 NC_000005.9:g.55927981_55927982ins dbRIP insertion not within known transcription unit 1 dbRIP_1001529 NC_000005.9:g.39292981_39292982ins dbRIP insertion intron 1 dbRIP_1001530 NC_000005.9:g.45606119_45606120ins dbRIP insertion intron 1 dbRIP_1001531 NC_000005.9:g.170201340_170201341ins dbRIP insertion not within known transcription unit 1 dbRIP_1001532 NC_000005.9:g.162231952_162231953ins dbRIP insertion not within known transcription unit 1 dbRIP_1001533 NC_000005.9:g.155290625_155290626ins dbRIP insertion not within known transcription unit 1 dbRIP_1001534 NC_000005.9:g.148096781_148096782ins dbRIP insertion not within known transcription unit 1 dbRIP_1001535 NC_000005.9:g.146369627_146369628ins dbRIP insertion intron 1 dbRIP_1001536 NC_000005.9:g.18570165_18570166ins dbRIP insertion not within known transcription unit 1 dbRIP_1001537 NC_000005.9:g.86372696_86372697ins dbRIP insertion not within known transcription unit 1 dbRIP_1001538 NC_000005.9:g.6284536_6284537ins dbRIP insertion not within known transcription unit 1 dbRIP_1001539 NC_000005.9:g.16716627_16716628ins dbRIP insertion intron 1 dbRIP_1001540 NC_000005.9:g.3995200_3995201ins dbRIP insertion not within known transcription unit 1 dbRIP_1001541 NC_000006.11:g.32470069_32470070ins dbRIP insertion not within known transcription unit 1 dbRIP_1001542 NC_000006.11:g.170500769_170500770ins dbRIP insertion not within known transcription unit 1 dbRIP_1001543 NC_000006.11:g.133160121_133160122ins dbRIP insertion not within known transcription unit 1 dbRIP_1001544 NC_000006.11:g.120568263_120568264ins dbRIP insertion not within known transcription unit 1 dbRIP_1001545 NC_000006.11:g.104772665_104772666ins dbRIP insertion not within known transcription unit 1 dbRIP_1001546 NC_000006.11:g.97017682_97017683ins dbRIP insertion intron 1 dbRIP_1001547 NC_000006.11:g.74341749_74341750ins dbRIP insertion intron 1 dbRIP_1001548 NC_000006.11:g.68314069_68314070ins dbRIP insertion not within known transcription unit 1 dbRIP_1001549 NC_000006.11:g.91125866_91125867ins dbRIP insertion not within known transcription unit 1 dbRIP_1001550 NC_000006.11:g.163190380_163190381ins dbRIP insertion intron 1 dbRIP_1001551 NC_000006.11:g.131175477_131175478ins dbRIP insertion intron 1 dbRIP_1001552 NC_000006.11:g.78364272_78364273ins dbRIP insertion not within known transcription unit 1 dbRIP_1001553 NC_000006.11:g.161206190_161206191ins dbRIP insertion not within known transcription unit 1 dbRIP_1001554 NC_000006.11:g.83274747_83274748ins dbRIP insertion not within known transcription unit 1 dbRIP_1001555 NC_000006.11:g.13521266_13521267ins dbRIP insertion not within known transcription unit 1 dbRIP_1001556 NC_000006.11:g.13718478_13718479ins dbRIP insertion not within known transcription unit 1 dbRIP_1001557 NC_000006.11:g.20887915_20887916ins dbRIP insertion intron 1 dbRIP_1001558 NC_000006.11:g.23978358_23978359ins dbRIP insertion not within known transcription unit 1 dbRIP_1001559 NC_000006.11:g.19137107_19137108ins dbRIP insertion not within known transcription unit 1 dbRIP_1001560 NC_000006.11:g.43895488_43895489ins dbRIP insertion intron 1 dbRIP_1001561 NC_000006.11:g.45260479_45260480ins dbRIP insertion not within known transcription unit 1 dbRIP_1001562 NC_000006.11:g.51929673_51929674ins dbRIP insertion intron 1 dbRIP_1001563 NC_000007.13:g.45775828_45776131del dbRIP deletion intron 1 dbRIP_1001564 NC_000007.13:g.46102179_46102180ins dbRIP insertion not within known transcription unit 1 dbRIP_1001565 NC_000007.13:g.57786450_57786749del dbRIP deletion not within known transcription unit 1 dbRIP_1001566 NC_000007.13:g.64653129_64653431del dbRIP deletion intron 1 dbRIP_1001567 NC_000007.13:g.72084345_72084649del dbRIP deletion intron 1 dbRIP_1001568 NC_000007.13:g.76476216_76476533del dbRIP deletion not within known transcription unit 1 dbRIP_1001569 NC_000007.13:g.98197798_98197799ins dbRIP insertion not within known transcription unit 1 dbRIP_1001570 NC_000007.13:g.154382281_154382282ins dbRIP insertion intron 1 dbRIP_1001571 NC_000007.13:g.154858220_154858221ins dbRIP insertion not within known transcription unit 1 dbRIP_1001572 NC_000007.13:g.64636823_64637119del dbRIP deletion intron 1 dbRIP_1001573 NC_000007.13:g.129157178_129157179ins dbRIP insertion not within known transcription unit 1 dbRIP_1001574 NC_000008.10:g.25172661_25172662ins dbRIP insertion intron 1 dbRIP_1001575 NC_000008.10:g.16102823_16102824ins dbRIP insertion not within known transcription unit 1 dbRIP_1001576 NC_000008.10:g.6044978_6044979ins dbRIP insertion not within known transcription unit 1 dbRIP_1001577 NC_000008.10:g.75375347_75375348ins dbRIP insertion not within known transcription unit 1 dbRIP_1001578 NC_000008.10:g.124680184_124680185ins dbRIP insertion not within known transcription unit 1 dbRIP_1001579 NC_000008.10:g.125889971_125889972ins dbRIP insertion not within known transcription unit 1 dbRIP_1001580 NC_000008.10:g.139325980_139325981ins dbRIP insertion intron 1 dbRIP_1001581 NC_000009.11:g.2351304_2351305ins dbRIP insertion not within known transcription unit 1 dbRIP_1001582 NC_000009.11:g.104209997_104209998ins dbRIP insertion not within known transcription unit 1 dbRIP_1001583 NC_000009.11:g.103702900_103702901ins dbRIP insertion not within known transcription unit 1 dbRIP_1001584 NC_000009.11:g.96371386_96371387ins dbRIP insertion intron 1 dbRIP_1001585 NC_000009.11:g.97314258_97314259ins dbRIP insertion not within known transcription unit 1 dbRIP_1001586 NC_000023.10:g.2731992_2731993ins dbRIP insertion intron 1 dbRIP_1001587 NC_000023.10:g.2986938_2986949del dbRIP deletion intron 1 dbRIP_1001588 NC_000023.10:g.2496937_2496938ins dbRIP insertion not within known transcription unit 1 dbRIP_1001589 NC_000023.10:g.149111838_149112134del dbRIP deletion intron 1 dbRIP_1001590 NC_000023.10:g.91141324_91141325ins dbRIP insertion intron 1 dbRIP_1001591 NC_000023.10:g.89420515_89420516ins dbRIP insertion not within known transcription unit 1 dbRIP_1001592 NC_000023.10:g.89565136_89565137ins dbRIP insertion not within known transcription unit 1 dbRIP_1001593 NC_000023.10:g.90283234_90283235ins dbRIP insertion not within known transcription unit 1 dbRIP_1001594 NC_000016.9:g.82912094_82912095ins dbRIP insertion intron 1 dbRIP_1001595 NC_000006.11:g.104742232_104742538del dbRIP deletion not within known transcription unit 1 dbRIP_1001596 NC_000001.10:g.185373107_185373434del dbRIP deletion not within known transcription unit 1 dbRIP_1001597 NC_000005.9:g.173607108_173607413del dbRIP deletion not within known transcription unit 1 dbRIP_1001598 NC_000006.11:g.12617336_12617649del dbRIP deletion not within known transcription unit 1 dbRIP_1001599 NC_000009.11:g.18508901_18509229del dbRIP deletion intron 1 dbRIP_1001600 NC_000018.9:g.70126677_70127010del dbRIP deletion not within known transcription unit 1 dbRIP_1001601 NC_000004.11:g.37007308_37007612del dbRIP deletion not within known transcription unit 1 dbRIP_1001602 NC_000014.8:g.60454172_60454173ins dbRIP insertion not within known transcription unit 1 dbRIP_1001603 NC_000005.9:g.35909250_35909251ins dbRIP insertion intron 1 dbRIP_1001604 NC_000004.11:g.2867855_2867856ins dbRIP insertion intron 1 dbRIP_1001605 NC_000003.11:g.165547677_165547678ins dbRIP insertion exon 1 dbRIP_1001606 NC_000011.9:g.118959823_118959824ins dbRIP insertion exon 1 dbRIP_1001607 NC_000011.9:g.57376606_57376607ins dbRIP insertion intron 1 dbRIP_1001608 NC_000023.10:g.30709198_30709199ins dbRIP insertion intron 1 dbRIP_1001609 NC_000003.11:g.122003445_122003446ins dbRIP insertion exon 1 dbRIP_1001610 NC_000005.9:g.112175867_112175868ins dbRIP insertion exon 1 dbRIP_1001611 NC_000023.10:g.138644119_138644120ins dbRIP insertion exon 1 dbRIP_1001612 NC_000017.10:g.41245822_41245823ins dbRIP insertion exon 1 dbRIP_1001613 NC_000013.10:g.32893298_32893299ins dbRIP insertion exon 1 dbRIP_1001614 NC_000001.10:g.197396643_197396644ins dbRIP insertion exon 1 dbRIP_1001615 NC_000023.10:g.154130461_154130462ins dbRIP insertion intron 1 dbRIP_1001616 NC_000002.11:g.145157590_145157591ins dbRIP insertion exon 1 dbRIP_1001617 NC_000023.10:g.153004665_153004666ins dbRIP insertion intron 1 dbRIP_1001618 NC_000005.9:g.112170890_112170891ins dbRIP insertion intron 1 dbRIP_1001619 NC_000023.10:g.154158339_154158340ins dbRIP insertion exon 1 dbRIP_1001620 NC_000010.10:g.90773050_90773051ins dbRIP insertion intron 1 dbRIP_1001621 NC_000023.10:g.138630554_138630555ins dbRIP insertion exon 1 dbRIP_1001622 NC_000001.10:g.8446635_8446636ins dbRIP insertion intron 1 dbRIP_1001623 NC_000001.10:g.64958079_64958080ins dbRIP insertion intron 1 dbRIP_1001624 NC_000001.10:g.66055942_66055943ins dbRIP insertion intron 1 dbRIP_1001625 NC_000001.10:g.70061671_70061672ins dbRIP insertion not within known transcription unit 1 dbRIP_1001626 NC_000001.10:g.52449445_52449446ins dbRIP insertion intron 1 dbRIP_1001627 NC_000001.10:g.46296452_46296453ins dbRIP insertion intron 1 dbRIP_1001628 NC_000001.10:g.46679048_46679049ins dbRIP insertion intron 1 dbRIP_1001629 NC_000001.10:g.100994222_100994223ins dbRIP insertion not within known transcription unit 1 dbRIP_1001630 NC_000001.10:g.104574482_104574483ins dbRIP insertion not within known transcription unit 1 dbRIP_1001631 NC_000001.10:g.105138651_105138652ins dbRIP insertion not within known transcription unit 1 dbRIP_1001632 NC_000001.10:g.105231112_105231113ins dbRIP insertion not within known transcription unit 1 dbRIP_1001633 NC_000001.10:g.113390524_113390525ins dbRIP insertion not within known transcription unit 1 dbRIP_1001634 NC_000001.10:g.76856643_76856644ins dbRIP insertion intron 1 dbRIP_1001635 NC_000001.10:g.95342702_95342703ins dbRIP insertion intron 1 dbRIP_1001636 NC_000001.10:g.77634328_77634329ins dbRIP insertion intron 1 dbRIP_1001637 NC_000001.10:g.84913275_84913276ins dbRIP insertion not within known transcription unit 1 dbRIP_1001638 NC_000001.10:g.79582083_79582084ins dbRIP insertion not within known transcription unit 1 dbRIP_1001639 NC_000001.10:g.93167533_93167534ins dbRIP insertion intron 1 dbRIP_1001640 NC_000001.10:g.181047426_181047427ins dbRIP insertion not within known transcription unit 1 dbRIP_1001641 NC_000001.10:g.160047686_160047687ins dbRIP insertion not within known transcription unit 1 dbRIP_1001642 NC_000001.10:g.165659303_165659304ins dbRIP insertion intron 1 dbRIP_1001643 NC_000001.10:g.218001844_218001845ins dbRIP insertion intron 1 dbRIP_1001644 NC_000001.10:g.222870698_222870699ins dbRIP insertion intron 1 dbRIP_1001645 NC_000001.10:g.188832851_188832852ins dbRIP insertion not within known transcription unit 1 dbRIP_1001646 NC_000001.10:g.189247040_189247041ins dbRIP insertion not within known transcription unit 1 dbRIP_1001647 NC_000001.10:g.196153548_196153549ins dbRIP insertion not within known transcription unit 1 dbRIP_1001648 NC_000001.10:g.197011872_197011873ins dbRIP insertion intron 1 dbRIP_1001649 NC_000001.10:g.232587773_232587774ins dbRIP insertion intron 1 dbRIP_1001650 NC_000001.10:g.245989323_245989324ins dbRIP insertion intron 1 dbRIP_1001651 NC_000001.10:g.246592343_246592344ins dbRIP insertion not within known transcription unit 1 dbRIP_1001652 NC_000010.10:g.29102542_29102543ins dbRIP insertion not within known transcription unit 1 dbRIP_1001653 NC_000010.10:g.29146320_29146321ins dbRIP insertion not within known transcription unit 1 dbRIP_1001654 NC_000010.10:g.30018774_30018775ins dbRIP insertion intron 1 dbRIP_1001655 NC_000010.10:g.39082810_39082811ins dbRIP insertion not within known transcription unit 1 dbRIP_1001656 NC_000010.10:g.14537789_14537790ins dbRIP insertion not within known transcription unit 1 dbRIP_1001657 NC_000010.10:g.20205258_20205259ins dbRIP insertion intron 1 dbRIP_1001658 NC_000010.10:g.71308748_71308749ins dbRIP insertion not within known transcription unit 1 dbRIP_1001659 NC_000010.10:g.73662007_73662008ins dbRIP insertion not within known transcription unit 1 dbRIP_1001660 NC_000010.10:g.66837069_66837070ins dbRIP insertion not within known transcription unit 1 dbRIP_1001661 NC_000010.10:g.56902378_56902379ins dbRIP insertion not within known transcription unit 1 dbRIP_1001662 NC_000010.10:g.62124857_62124858ins dbRIP insertion intron 1 dbRIP_1001663 NC_000010.10:g.58902214_58902215ins dbRIP insertion not within known transcription unit 1 dbRIP_1001664 NC_000010.10:g.64460009_64460010ins dbRIP insertion not within known transcription unit 1 dbRIP_1001665 NC_000010.10:g.54805970_54805971ins dbRIP insertion not within known transcription unit 1 dbRIP_1001666 NC_000010.10:g.69994906_69994907ins dbRIP insertion not within known transcription unit 1 dbRIP_1001667 NC_000010.10:g.100306912_100306913ins dbRIP insertion intron 1 dbRIP_1001668 NC_000010.10:g.115250287_115250288ins dbRIP insertion not within known transcription unit 1 dbRIP_1001669 NC_000010.10:g.124736005_124736006ins dbRIP insertion not within known transcription unit 1 dbRIP_1001670 NC_000010.10:g.105817215_105817216ins dbRIP insertion intron 1 dbRIP_1001671 NC_000010.10:g.108991285_108991286ins dbRIP insertion not within known transcription unit 1 dbRIP_1001672 NC_000011.9:g.10637494_10637495ins dbRIP insertion intron 1 dbRIP_1001673 NC_000011.9:g.23522805_23522852del dbRIP deletion not within known transcription unit 1 dbRIP_1001674 NC_000011.9:g.25140819_25140820ins dbRIP insertion not within known transcription unit 1 dbRIP_1001675 NC_000011.9:g.5885149_5885150ins dbRIP insertion not within known transcription unit 1 dbRIP_1001676 NC_000010.10:g.126873827_126873828ins dbRIP insertion not within known transcription unit 1 dbRIP_1001677 NC_000010.10:g.134288545_134288546ins dbRIP insertion not within known transcription unit 1 dbRIP_1001678 NC_000011.9:g.3267810_3267811ins dbRIP insertion not within known transcription unit 1 dbRIP_1001679 NC_000011.9:g.41530249_41530250ins dbRIP insertion not within known transcription unit 1 dbRIP_1001680 NC_000011.9:g.47806656_47806657ins dbRIP insertion intron 1 dbRIP_1001681 NC_000011.9:g.56303363_56303364ins dbRIP insertion not within known transcription unit 1 dbRIP_1001682 NC_000011.9:g.57774121_57774122ins dbRIP insertion not within known transcription unit 1 dbRIP_1001683 NC_000011.9:g.25605140_25605141ins dbRIP insertion not within known transcription unit 1 dbRIP_1001684 NC_000011.9:g.37706296_37706297ins dbRIP insertion not within known transcription unit 1 dbRIP_1001685 NC_000011.9:g.32892057_32892058ins dbRIP insertion not within known transcription unit 1 dbRIP_1001686 NC_000011.9:g.33624794_33624795ins dbRIP insertion intron 1 dbRIP_1001687 NC_000011.9:g.40494019_40494020ins dbRIP insertion not within known transcription unit 1 dbRIP_1001688 NC_000011.9:g.92608492_92608493ins dbRIP insertion intron 1 dbRIP_1001689 NC_000011.9:g.102348327_102348328ins dbRIP insertion not within known transcription unit 1 dbRIP_1001690 NC_000011.9:g.99729424_99729425ins dbRIP insertion intron 1 dbRIP_1001691 NC_000011.9:g.106170481_106170482ins dbRIP insertion not within known transcription unit 1 dbRIP_1001692 NC_000011.9:g.100781394_100781395ins dbRIP insertion intron 1 dbRIP_1001693 NC_000011.9:g.72320923_72320924ins dbRIP insertion not within known transcription unit 1 dbRIP_1001694 NC_000011.9:g.67422790_67446833del dbRIP deletion not within known transcription unit 1 dbRIP_1001695 NC_000011.9:g.73562794_73562795ins dbRIP insertion intron 1 dbRIP_1001696 NC_000011.9:g.88908953_88908954ins dbRIP insertion not within known transcription unit 1 dbRIP_1001697 NC_000011.9:g.126915319_126915320ins dbRIP insertion not within known transcription unit 1 dbRIP_1001698 NC_000011.9:g.42453190_42453191ins dbRIP insertion not within known transcription unit 1 dbRIP_1001699 NC_000011.9:g.130675924_130675925ins dbRIP insertion not within known transcription unit 1 dbRIP_1001700 NC_000012.11:g.987961_987962ins dbRIP insertion intron 1 dbRIP_1001701 NC_000012.11:g.7603981_7603982ins dbRIP insertion not within known transcription unit 1 dbRIP_1001702 NC_000011.9:g.117683507_117683508ins dbRIP insertion not within known transcription unit 1 dbRIP_1001703 NC_000012.11:g.30471069_30471070ins dbRIP insertion not within known transcription unit 1 dbRIP_1001704 NC_000012.11:g.41847723_41847724ins dbRIP insertion intron 1 dbRIP_1001705 NC_000012.11:g.39378253_39378254ins dbRIP insertion not within known transcription unit 1 dbRIP_1001706 NC_000012.11:g.43717941_43717942ins dbRIP insertion not within known transcription unit 1 dbRIP_1001707 NC_000012.11:g.18751634_18751635ins dbRIP insertion intron 1 dbRIP_1001708 NC_000012.11:g.9369239_9369240ins dbRIP insertion not within known transcription unit 1 dbRIP_1001709 NC_000012.11:g.14173879_14173880ins dbRIP insertion not within known transcription unit 1 dbRIP_1001710 NC_000012.11:g.14386207_14386208ins dbRIP insertion not within known transcription unit 1 dbRIP_1001711 NC_000012.11:g.71525480_71525481ins dbRIP insertion intron 1 dbRIP_1001712 NC_000012.11:g.75931102_75931103ins dbRIP insertion not within known transcription unit 1 dbRIP_1001713 NC_000012.11:g.84165497_84165498ins dbRIP insertion not within known transcription unit 1 dbRIP_1001714 NC_000012.11:g.45064377_45064378ins dbRIP insertion intron 1 dbRIP_1001715 NC_000012.11:g.45131147_45131148ins dbRIP insertion intron 1 dbRIP_1001716 NC_000012.11:g.45419555_45419556ins dbRIP insertion intron 1 dbRIP_1001717 NC_000012.11:g.55155737_55155738ins dbRIP insertion not within known transcription unit 1 dbRIP_1001718 NC_000012.11:g.61537954_61537955ins dbRIP insertion not within known transcription unit 1 dbRIP_1001719 NC_000012.11:g.47730692_47730693ins dbRIP insertion not within known transcription unit 1 dbRIP_1001720 NC_000012.11:g.115731093_115731094ins dbRIP insertion not within known transcription unit 1 dbRIP_1001721 NC_000012.11:g.97495360_97495361ins dbRIP insertion not within known transcription unit 1 dbRIP_1001722 NC_000012.11:g.105317164_105317165ins dbRIP insertion intron 1 dbRIP_1001723 NC_000013.10:g.29538891_29538892ins dbRIP insertion not within known transcription unit 1 dbRIP_1001724 NC_000013.10:g.36716817_36716818ins dbRIP insertion not within known transcription unit 1 dbRIP_1001725 NC_000013.10:g.37949995_37949996ins dbRIP insertion not within known transcription unit 1 dbRIP_1001726 NC_000013.10:g.34738966_34738967ins dbRIP insertion not within known transcription unit 1 dbRIP_1001727 NC_000013.10:g.39452726_39452727ins dbRIP insertion intron 1 dbRIP_1001728 NC_000013.10:g.21894780_21894781ins dbRIP insertion not within known transcription unit 1 dbRIP_1001729 NC_000013.10:g.22530362_22530363ins dbRIP insertion not within known transcription unit 1 dbRIP_1001730 NC_000013.10:g.50173371_50173372ins dbRIP insertion not within known transcription unit 1 dbRIP_1001731 NC_000013.10:g.69670764_69670765ins dbRIP insertion not within known transcription unit 1 dbRIP_1001732 NC_000013.10:g.57589026_57589027ins dbRIP insertion not within known transcription unit 1 dbRIP_1001733 NC_000013.10:g.46628995_46628996ins dbRIP insertion intron 1 dbRIP_1001734 NC_000013.10:g.46647748_46647749ins dbRIP insertion intron 1 dbRIP_1001735 NC_000013.10:g.58621067_58621068ins dbRIP insertion not within known transcription unit 1 dbRIP_1001736 NC_000013.10:g.108719819_108719820ins dbRIP insertion not within known transcription unit 1 dbRIP_1001737 NC_000013.10:g.111611988_111611989ins dbRIP insertion not within known transcription unit 1 dbRIP_1001738 NC_000013.10:g.78584671_78584672ins dbRIP insertion not within known transcription unit 1 dbRIP_1001739 NC_000013.10:g.79271601_79271602ins dbRIP insertion not within known transcription unit 1 dbRIP_1001740 NC_000013.10:g.92161676_92161677ins dbRIP insertion intron 1 dbRIP_1001741 NC_000013.10:g.81373732_81373733ins dbRIP insertion not within known transcription unit 1 dbRIP_1001742 NC_000013.10:g.92513981_92513982ins dbRIP insertion intron 1 dbRIP_1001743 NC_000013.10:g.98734911_98734912ins dbRIP insertion not within known transcription unit 1 dbRIP_1001744 NC_000014.8:g.47836094_47836095ins dbRIP insertion intron 1 dbRIP_1001745 NC_000014.8:g.51432096_51432097ins dbRIP insertion not within known transcription unit 1 dbRIP_1001746 NC_000014.8:g.51719000_51719001ins dbRIP insertion intron 1 dbRIP_1001747 NC_000014.8:g.20484312_20484313ins dbRIP insertion promoter 1 dbRIP_1001748 NC_000014.8:g.32669247_32669248ins dbRIP insertion not within known transcription unit 1 dbRIP_1001749 NC_000014.8:g.39160769_39160770ins dbRIP insertion not within known transcription unit 1 dbRIP_1001750 NC_000014.8:g.92125069_92125070ins dbRIP insertion intron 1 dbRIP_1001751 NC_000014.8:g.63221692_63221693ins dbRIP insertion intron 1 dbRIP_1001752 NC_000014.8:g.63226299_63226300ins dbRIP insertion intron 1 dbRIP_1001753 NC_000014.8:g.75499582_75499583ins dbRIP insertion not within known transcription unit 1 dbRIP_1001754 NC_000014.8:g.60532404_60532405ins dbRIP insertion not within known transcription unit 1 dbRIP_1001755 NC_000015.9:g.44823525_44823526ins dbRIP insertion not within known transcription unit 1 dbRIP_1001756 NC_000015.9:g.38718005_38718006ins dbRIP insertion not within known transcription unit 1 dbRIP_1001757 NC_000015.9:g.45569924_45570184del dbRIP deletion not within known transcription unit 1 dbRIP_1001758 NC_000015.9:g.46126007_46126008ins dbRIP insertion not within known transcription unit 1 dbRIP_1001759 NC_000015.9:g.40714909_40714910ins dbRIP insertion not within known transcription unit 1 dbRIP_1001760 NC_000015.9:g.41100333_41100334ins dbRIP insertion promoter 1 dbRIP_1001761 NC_000014.8:g.106788860_106788861ins dbRIP insertion not within known transcription unit 1 dbRIP_1001762 NC_000014.8:g.98494391_98494392ins dbRIP insertion not within known transcription unit 1 dbRIP_1001763 NC_000015.9:g.22769075_22769076ins dbRIP insertion not within known transcription unit 1 dbRIP_1001764 NC_000015.9:g.28174978_28174979ins dbRIP insertion intron 1 dbRIP_1001765 NC_000015.9:g.70408631_70408632ins dbRIP insertion not within known transcription unit 1 dbRIP_1001766 NC_000015.9:g.60657260_60657261ins dbRIP insertion intron 1 dbRIP_1001767 NC_000015.9:g.61216545_61216546ins dbRIP insertion intron 1 dbRIP_1001768 NC_000015.9:g.56833674_56833921del dbRIP deletion not within known transcription unit 1 dbRIP_1001769 NC_000015.9:g.100898980_100898981ins dbRIP insertion not within known transcription unit 1 dbRIP_1001770 NC_000015.9:g.96127780_96127781ins dbRIP insertion not within known transcription unit 1 dbRIP_1001771 NC_000015.9:g.92573054_92573055ins dbRIP insertion intron 1 dbRIP_1001772 NC_000015.9:g.97770235_97770236ins dbRIP insertion not within known transcription unit 1 dbRIP_1001773 NC_000015.9:g.100343320_100343321ins dbRIP insertion intron 1 dbRIP_1001774 NC_000016.9:g.53183669_53183670ins dbRIP insertion intron 1 dbRIP_1001775 NC_000016.9:g.60041168_60041169ins dbRIP insertion not within known transcription unit 1 dbRIP_1001776 NC_000016.9:g.23865300_23865301ins dbRIP insertion intron 1 dbRIP_1001777 NC_000016.9:g.89281699_89281700ins dbRIP insertion not within known transcription unit 1 dbRIP_1001778 NC_000016.9:g.69395848_69395849ins dbRIP insertion intron 1 dbRIP_1001779 NC_000016.9:g.82164198_82164674del dbRIP deletion not within known transcription unit 1 dbRIP_1001780 NC_000017.10:g.13436847_13436848ins dbRIP insertion intron 1 dbRIP_1001781 NC_000017.10:g.45402411_45402412ins dbRIP insertion intron 1 dbRIP_1001782 NC_000017.10:g.20461552_20461553ins dbRIP insertion not within known transcription unit 1 dbRIP_1001783 NC_000017.10:g.10888129_10888130ins dbRIP insertion not within known transcription unit 1 dbRIP_1001784 NC_000017.10:g.54947583_54947584ins dbRIP insertion not within known transcription unit 1 dbRIP_1001785 NC_000017.10:g.51957128_51957129ins dbRIP insertion not within known transcription unit 1 dbRIP_1001786 NC_000018.9:g.24538030_24538031ins dbRIP insertion intron 1 dbRIP_1001787 NC_000018.9:g.27531877_27531878ins dbRIP insertion not within known transcription unit 1 dbRIP_1001788 NC_000018.9:g.27800862_27800863ins dbRIP insertion not within known transcription unit 1 dbRIP_1001789 NC_000018.9:g.29003625_29003626ins dbRIP insertion not within known transcription unit 1 dbRIP_1001790 NC_000018.9:g.6521718_6521719ins dbRIP insertion not within known transcription unit 1 dbRIP_1001791 NC_000018.9:g.2304407_2304408ins dbRIP insertion not within known transcription unit 1 dbRIP_1001792 NC_000018.9:g.10911136_10911137ins dbRIP insertion intron 1 dbRIP_1001793 NC_000018.9:g.49931372_49931745del dbRIP deletion intron 1 dbRIP_1001794 NC_000018.9:g.66399175_66399176ins dbRIP insertion intron 1 dbRIP_1001795 NC_000018.9:g.66572501_66572502ins dbRIP insertion intron 1 dbRIP_1001796 NC_000018.9:g.67160066_67160067ins dbRIP insertion intron 1 dbRIP_1001797 NC_000018.9:g.57150121_57150122ins dbRIP insertion intron 1 dbRIP_1001798 NC_000018.9:g.46523846_46523847ins dbRIP insertion not within known transcription unit 1 dbRIP_1001799 NC_000018.9:g.63487287_63487288ins dbRIP insertion intron 1 dbRIP_1001800 NC_000018.9:g.63884171_63884172ins dbRIP insertion not within known transcription unit 1 dbRIP_1001801 NC_000018.9:g.49513071_49513072ins dbRIP insertion not within known transcription unit 1 dbRIP_1001802 NC_000019.9:g.7804025_7804026ins dbRIP insertion not within known transcription unit 1 dbRIP_1001803 NC_000019.9:g.15927952_15927953ins dbRIP insertion not within known transcription unit 1 dbRIP_1001804 NC_000019.9:g.16076806_16076807ins dbRIP insertion not within known transcription unit 1 dbRIP_1001805 NC_000019.9:g.23917066_23917466del dbRIP deletion not within known transcription unit 1 dbRIP_1001806 NC_000019.9:g.2025055_2025056ins dbRIP insertion not within known transcription unit 1 dbRIP_1001807 NC_000019.9:g.2383651_2383652ins dbRIP insertion not within known transcription unit 1 dbRIP_1001808 NC_000019.9:g.6923865_6923866ins dbRIP insertion intron 1 dbRIP_1001809 NC_000019.9:g.53309850_53309851ins dbRIP insertion intron 1 dbRIP_1001810 NC_000019.9:g.31690678_31690679ins dbRIP insertion not within known transcription unit 1 dbRIP_1001811 NC_000002.11:g.26473946_26473947ins dbRIP insertion intron 1 dbRIP_1001812 NC_000002.11:g.26623683_26623684ins dbRIP insertion not within known transcription unit 1 dbRIP_1001813 NC_000002.11:g.37004250_37004251ins dbRIP insertion intron 1 dbRIP_1001814 NC_000002.11:g.34255392_34255393ins dbRIP insertion not within known transcription unit 1 dbRIP_1001815 NC_000002.11:g.31559696_31559697ins dbRIP insertion intron 1 dbRIP_1001816 NC_000002.11:g.11353707_11353708ins dbRIP insertion intron 1 dbRIP_1001817 NC_000002.11:g.2539950_2539951ins dbRIP insertion not within known transcription unit 1 dbRIP_1001818 NC_000002.11:g.9888801_9888802ins dbRIP insertion not within known transcription unit 1 dbRIP_1001819 NC_000002.11:g.3718462_3718463ins dbRIP insertion intron 1 dbRIP_1001820 NC_000002.11:g.15519554_15519555ins dbRIP insertion intron 1 dbRIP_1001821 NC_000002.11:g.49733494_49733495ins dbRIP insertion not within known transcription unit 1 dbRIP_1001822 NC_000002.11:g.66658989_66658990ins dbRIP insertion not within known transcription unit 1 dbRIP_1001823 NC_000002.11:g.70797715_70797716ins dbRIP insertion not within known transcription unit 1 dbRIP_1001824 NC_000002.11:g.75387900_75387901ins dbRIP insertion intron 1 dbRIP_1001825 NC_000002.11:g.96488453_96488454ins dbRIP insertion not within known transcription unit 1 dbRIP_1001826 NC_000002.11:g.46928953_46928954ins dbRIP insertion intron 1 dbRIP_1001827 NC_000002.11:g.43024076_43024077ins dbRIP insertion not within known transcription unit 1 VAR_053344 Q9NYW4:p.Arg294Leu SP substitution exon 1 dbRIP_1001828 NC_000002.11:g.83831725_83831726ins dbRIP insertion not within known transcription unit 1 dbRIP_1001829 NC_000002.11:g.84590146_84590147ins dbRIP insertion not within known transcription unit 1 dbRIP_1001830 NC_000002.11:g.112447436_112447437ins dbRIP insertion not within known transcription unit 1 dbRIP_1001831 NC_000002.11:g.98582158_98582159ins dbRIP insertion intron 1 dbRIP_1001832 NC_000002.11:g.106101570_106101571ins dbRIP insertion not within known transcription unit 1 dbRIP_1001833 NC_000002.11:g.173522172_173522173ins dbRIP insertion not within known transcription unit 1 dbRIP_1001834 NC_000002.11:g.148650073_148650074ins dbRIP insertion intron 1 dbRIP_1001835 NC_000002.11:g.154160685_154160686ins dbRIP insertion not within known transcription unit 1 dbRIP_1001836 NC_000002.11:g.154752595_154752596ins dbRIP insertion intron 1 dbRIP_1001837 NC_000002.11:g.138176948_138177001del dbRIP deletion intron 1 dbRIP_1001838 NC_000002.11:g.186001780_186001781ins dbRIP insertion not within known transcription unit 1 dbRIP_1001839 NC_000002.11:g.181421926_181421927ins dbRIP insertion not within known transcription unit 1 dbRIP_1001840 NC_000002.11:g.192982697_192982698ins dbRIP insertion intron 1 dbRIP_1001841 NC_000002.11:g.235546759_235546760ins dbRIP insertion not within known transcription unit 1 dbRIP_1001842 NC_000020.10:g.5021132_5021133ins dbRIP insertion not within known transcription unit 1 dbRIP_1001843 NC_000002.11:g.213166437_213166438ins dbRIP insertion not within known transcription unit 1 dbRIP_1001844 NC_000002.11:g.218180772_218180773ins dbRIP insertion intron 1 dbRIP_1001845 NC_000002.11:g.223882885_223882886ins dbRIP insertion not within known transcription unit 1 dbRIP_1001846 NC_000002.11:g.229229744_229229745ins dbRIP insertion not within known transcription unit 1 dbRIP_1001847 NC_000002.11:g.224176051_224176052ins dbRIP insertion not within known transcription unit 1 dbRIP_1001848 NC_000002.11:g.215201641_215201642ins dbRIP insertion intron 1 dbRIP_1001849 NC_000002.11:g.220936396_220936397ins dbRIP insertion not within known transcription unit 1 dbRIP_1001850 NC_000002.11:g.226753691_226753692ins dbRIP insertion not within known transcription unit 1 dbRIP_1001851 NC_000002.11:g.232279814_232279815ins dbRIP insertion not within known transcription unit 1 dbRIP_1001852 NC_000020.10:g.22706130_22706131ins dbRIP insertion not within known transcription unit 1 dbRIP_1001853 NC_000020.10:g.33801909_33801910ins dbRIP insertion not within known transcription unit 1 dbRIP_1001854 NC_000020.10:g.13704161_13704162ins dbRIP insertion intron 1 dbRIP_1001855 NC_000020.10:g.15087673_15087674ins dbRIP insertion not within known transcription unit 1 dbRIP_1001856 NC_000020.10:g.16228651_16228652ins dbRIP insertion not within known transcription unit 1 dbRIP_1001857 NC_000021.8:g.23817351_23817352ins dbRIP insertion not within known transcription unit 1 dbRIP_1001858 NC_000021.8:g.28221354_28221355ins dbRIP insertion not within known transcription unit 1 dbRIP_1001859 NC_000021.8:g.39057838_39057839ins dbRIP insertion intron 1 dbRIP_1001860 NC_000022.10:g.26953732_26953748del dbRIP deletion not within known transcription unit 1 dbRIP_1001861 NC_000022.10:g.33528513_33528514ins dbRIP insertion not within known transcription unit 1 dbRIP_1001862 NC_000021.8:g.44386042_44386043ins dbRIP insertion not within known transcription unit 1 dbRIP_1001863 NC_000021.8:g.44449853_44449854ins dbRIP insertion intron 1 dbRIP_1001864 NC_000022.10:g.17705309_17705310ins dbRIP insertion not within known transcription unit 1 dbRIP_1001865 NC_000022.10:g.19361461_19361462ins dbRIP insertion intron 1 dbRIP_1001866 NC_000003.11:g.6395834_6395835ins dbRIP insertion not within known transcription unit 1 dbRIP_1001867 NC_000003.11:g.7130383_7130384ins dbRIP insertion intron 1 dbRIP_1001868 NC_000003.11:g.7614534_7614587del dbRIP deletion intron 1 dbRIP_1001869 NC_000003.11:g.12137072_12137073ins dbRIP insertion intron 1 dbRIP_1001870 NC_000022.10:g.50273381_50273457del dbRIP deletion intron 1 dbRIP_1001871 NC_000003.11:g.4205092_4205151del dbRIP deletion not within known transcription unit 1 dbRIP_1001872 NC_000003.11:g.98726776_98726777ins dbRIP insertion not within known transcription unit 1 dbRIP_1001873 NC_000003.11:g.99655399_99655400ins dbRIP insertion intron 1 dbRIP_1001874 NC_000003.11:g.106289202_106289203ins dbRIP insertion not within known transcription unit 1 dbRIP_1001875 NC_000003.11:g.111226376_111226377ins dbRIP insertion not within known transcription unit 1 dbRIP_1001876 NC_000003.11:g.112453506_112453507ins dbRIP insertion not within known transcription unit 1 dbRIP_1001877 NC_000003.11:g.37361602_37361603ins dbRIP insertion intron 1 dbRIP_1001878 NC_000003.11:g.50063040_50063041ins dbRIP insertion intron 1 dbRIP_1001879 NC_000003.11:g.51763945_51763946ins dbRIP insertion not within known transcription unit 1 dbRIP_1001880 NC_000003.11:g.45542663_45542664ins dbRIP insertion intron 1 dbRIP_1001881 NC_000003.11:g.28707059_28707060ins dbRIP insertion not within known transcription unit 1 dbRIP_1001882 NC_000003.11:g.169950980_169951009del dbRIP deletion intron 1 dbRIP_1001883 NC_000003.11:g.166390231_166390232ins dbRIP insertion not within known transcription unit 1 dbRIP_1001884 NC_000003.11:g.166544604_166544605ins dbRIP insertion not within known transcription unit 1 dbRIP_1001885 NC_000003.11:g.174410751_174410752ins dbRIP insertion not within known transcription unit 1 dbRIP_1001886 NC_000003.11:g.137565397_137565398ins dbRIP insertion not within known transcription unit 1 dbRIP_1001887 NC_000003.11:g.144687885_144687886ins dbRIP insertion not within known transcription unit 1 dbRIP_1001888 NC_000003.11:g.151748851_151748852ins dbRIP insertion not within known transcription unit 1 dbRIP_1001889 NC_000003.11:g.156239882_156239883ins dbRIP insertion intron 1 dbRIP_1001890 NC_000003.11:g.132577724_132577725ins dbRIP insertion intron 1 dbRIP_1001891 NC_000003.11:g.127015547_127015548ins dbRIP insertion not within known transcription unit 1 dbRIP_1001892 NC_000003.11:g.129938432_129938433ins dbRIP insertion intron 1 dbRIP_1001893 NC_000004.11:g.54415654_54415655ins dbRIP insertion not within known transcription unit 1 dbRIP_1001894 NC_000004.11:g.65216746_65216747ins dbRIP insertion intron 1 dbRIP_1001895 NC_000004.11:g.66738382_66738383ins dbRIP insertion not within known transcription unit 1 dbRIP_1001896 NC_000004.11:g.67963892_67963893ins dbRIP insertion not within known transcription unit 1 dbRIP_1001897 NC_000004.11:g.61825109_61825110ins dbRIP insertion not within known transcription unit 1 dbRIP_1001898 NC_000004.11:g.35720861_35720862ins dbRIP insertion not within known transcription unit 1 dbRIP_1001899 NC_000004.11:g.36325205_36325206ins dbRIP insertion intron 1 dbRIP_1001900 NC_000004.11:g.12239295_12239296ins dbRIP insertion not within known transcription unit 1 dbRIP_1001901 NC_000004.11:g.1301833_1301834ins dbRIP insertion intron 1 dbRIP_1001902 NC_000004.11:g.10722293_10722294ins dbRIP insertion not within known transcription unit 1 dbRIP_1001903 NC_000004.11:g.148053950_148053951ins dbRIP insertion not within known transcription unit 1 dbRIP_1001904 NC_000004.11:g.125977764_125977765ins dbRIP insertion not within known transcription unit 1 dbRIP_1001905 NC_000004.11:g.137806524_137806525ins dbRIP insertion not within known transcription unit 1 dbRIP_1001906 NC_000004.11:g.133117841_133117842ins dbRIP insertion not within known transcription unit 1 dbRIP_1001907 NC_000004.11:g.139225215_139225216ins dbRIP insertion not within known transcription unit 1 dbRIP_1001908 NC_000004.11:g.144420854_144420855ins dbRIP insertion not within known transcription unit 1 dbRIP_1001909 NC_000004.11:g.134488146_134488147ins dbRIP insertion not within known transcription unit 1 dbRIP_1001910 NC_000004.11:g.86584502_86584503ins dbRIP insertion intron 1 dbRIP_1001911 NC_000004.11:g.109922000_109922001ins dbRIP insertion intron 1 dbRIP_1001912 NC_000004.11:g.119774736_119774737ins dbRIP insertion not within known transcription unit 1 dbRIP_1001913 NC_000005.9:g.7151639_7151640ins dbRIP insertion not within known transcription unit 1 dbRIP_1001914 NC_000005.9:g.17712623_17712624ins dbRIP insertion not within known transcription unit 1 dbRIP_1001915 NC_000005.9:g.34113270_34113271ins dbRIP insertion not within known transcription unit 1 dbRIP_1001916 NC_000005.9:g.14685944_14685945ins dbRIP insertion intron 1 dbRIP_1001917 NC_000005.9:g.5595247_5595248ins dbRIP insertion not within known transcription unit 1 dbRIP_1001918 NC_000004.11:g.186361924_186361925ins dbRIP insertion not within known transcription unit 1 dbRIP_1001919 NC_000004.11:g.189315041_189315042ins dbRIP insertion not within known transcription unit 1 dbRIP_1001920 NC_000005.9:g.1585518_1585519ins dbRIP insertion intron 1 dbRIP_1001921 NC_000004.11:g.179198329_179198330ins dbRIP insertion not within known transcription unit 1 dbRIP_1001922 NC_000004.11:g.164757645_164757743del dbRIP deletion intron 1 dbRIP_1001923 NC_000004.11:g.175211588_175211589ins dbRIP insertion intron 1 dbRIP_1001924 NC_000004.11:g.176281837_176281838ins dbRIP insertion not within known transcription unit 1 dbRIP_1001925 NC_000004.11:g.167338794_167338795ins dbRIP insertion not within known transcription unit 1 dbRIP_1001926 NC_000005.9:g.123886827_123886828ins dbRIP insertion not within known transcription unit 1 dbRIP_1001927 NC_000005.9:g.133762924_134038843del dbRIP deletion intron 1 dbRIP_1001928 NC_000005.9:g.130853259_130853260ins dbRIP insertion intron 1 dbRIP_1001929 NC_000005.9:g.91031026_91031027ins dbRIP insertion not within known transcription unit 1 dbRIP_1001930 NC_000005.9:g.114739737_114739738ins dbRIP insertion not within known transcription unit 1 dbRIP_1001931 NC_000005.9:g.100497263_100497398del dbRIP deletion not within known transcription unit 1 dbRIP_1001932 NC_000005.9:g.109245964_109245965ins dbRIP insertion not within known transcription unit 1 dbRIP_1001933 NC_000005.9:g.54729294_54729295ins dbRIP insertion intron 1 dbRIP_1001934 NC_000005.9:g.55689496_55689497ins dbRIP insertion not within known transcription unit 1 dbRIP_1001935 NC_000005.9:g.40181658_40181659ins dbRIP insertion not within known transcription unit 1 dbRIP_1001936 NC_000005.9:g.40982425_40982426ins dbRIP insertion exon 1 dbRIP_1001937 NC_000005.9:g.57716225_57716226ins dbRIP insertion not within known transcription unit 1 dbRIP_1001938 NC_000005.9:g.58255808_58255809ins dbRIP insertion not within known transcription unit 1 dbRIP_1001939 NC_000005.9:g.43393806_43393807ins dbRIP insertion intron 1 dbRIP_1001940 NC_000005.9:g.43517924_43517925ins dbRIP insertion not within known transcription unit 1 dbRIP_1001941 NC_000006.11:g.18470163_18470164ins dbRIP insertion not within known transcription unit 1 dbRIP_1001942 NC_000006.11:g.18899367_18899368ins dbRIP insertion not within known transcription unit 1 dbRIP_1001943 NC_000006.11:g.2774018_2774019ins dbRIP insertion intron 1 dbRIP_1001944 NC_000005.9:g.179369185_179369186ins dbRIP insertion not within known transcription unit 1 dbRIP_1001945 NC_000006.11:g.13459596_13459597ins dbRIP insertion not within known transcription unit 1 dbRIP_1001946 NC_000006.11:g.6034775_6034776ins dbRIP insertion not within known transcription unit 1 dbRIP_1001947 NC_000005.9:g.152123565_152123566ins dbRIP insertion not within known transcription unit 1 dbRIP_1001948 NC_000005.9:g.158717174_158717175ins dbRIP insertion not within known transcription unit 1 dbRIP_1001949 NC_000005.9:g.141758656_141758657ins dbRIP insertion not within known transcription unit 1 dbRIP_1001950 NC_000006.11:g.96509181_96509182ins dbRIP insertion intron 1 dbRIP_1001951 NC_000006.11:g.98251341_98251342ins dbRIP insertion not within known transcription unit 1 dbRIP_1001952 NC_000006.11:g.100407500_100407501ins dbRIP insertion intron 1 dbRIP_1001953 NC_000006.11:g.104350580_104350581ins dbRIP insertion not within known transcription unit 1 dbRIP_1001954 NC_000006.11:g.71729316_71729317ins dbRIP insertion not within known transcription unit 1 dbRIP_1001955 NC_000006.11:g.72580495_72580496ins dbRIP insertion not within known transcription unit 1 dbRIP_1001956 NC_000006.11:g.78843184_78843185ins dbRIP insertion not within known transcription unit 1 dbRIP_1001957 NC_000006.11:g.74341926_74341927ins dbRIP insertion intron 1 dbRIP_1001958 NC_000006.11:g.74668019_74668020ins dbRIP insertion not within known transcription unit 1 dbRIP_1001959 NC_000006.11:g.32641447_32641448ins dbRIP insertion not within known transcription unit 1 dbRIP_1001960 NC_000006.11:g.49561930_49561931ins dbRIP insertion not within known transcription unit 1 dbRIP_1001961 NC_000006.11:g.56702723_56702724ins dbRIP insertion intron 1 dbRIP_1001962 NC_000006.11:g.64836243_64836244ins dbRIP insertion intron 1 dbRIP_1001963 NC_000006.11:g.68311312_68311313ins dbRIP insertion not within known transcription unit 1 dbRIP_1001964 NC_000006.11:g.66816125_66816126ins dbRIP insertion not within known transcription unit 1 dbRIP_1001965 NC_000006.11:g.69642783_69642784ins dbRIP insertion intron 1 dbRIP_1001966 NC_000006.11:g.30981083_30981084ins dbRIP insertion not within known transcription unit 1 dbRIP_1001967 NC_000006.11:g.32773435_32773436ins dbRIP insertion not within known transcription unit 1 dbRIP_1001968 NC_000006.11:g.44798622_44798623ins dbRIP insertion intron 1 dbRIP_1001969 NC_000006.11:g.31439016_31439017ins dbRIP insertion exon 1 dbRIP_1001970 NC_000006.11:g.40046910_40046911ins dbRIP insertion not within known transcription unit 1 dbRIP_1001971 NC_000006.11:g.47312790_47312791ins dbRIP insertion not within known transcription unit 1 dbRIP_1001972 NC_000007.13:g.3090715_3090716ins dbRIP insertion not within known transcription unit 1 dbRIP_1001973 NC_000006.11:g.165186946_165186947ins dbRIP insertion not within known transcription unit 1 dbRIP_1001974 NC_000006.11:g.160484026_160484027ins dbRIP insertion intron 1 dbRIP_1001975 NC_000006.11:g.167124813_167124814ins dbRIP insertion intron 1 dbRIP_1001976 NC_000006.11:g.141134068_141134069ins dbRIP insertion not within known transcription unit 1 dbRIP_1001977 NC_000006.11:g.148998203_148998204ins dbRIP insertion not within known transcription unit 1 dbRIP_1001978 NC_000006.11:g.150910877_150910878ins dbRIP insertion not within known transcription unit 1 dbRIP_1001979 NC_000006.11:g.155051659_155051660ins dbRIP insertion not within known transcription unit 1 dbRIP_1001980 NC_000006.11:g.159204431_159204432ins dbRIP insertion intron 1 dbRIP_1001981 NC_000006.11:g.114068592_114068593ins dbRIP insertion not within known transcription unit 1 dbRIP_1001982 NC_000006.11:g.137254209_137254210ins dbRIP insertion not within known transcription unit 1 dbRIP_1001983 NC_000006.11:g.131057587_131057588ins dbRIP insertion not within known transcription unit 1 dbRIP_1001984 NC_000007.13:g.88484645_88484646ins dbRIP insertion not within known transcription unit 1 dbRIP_1001985 NC_000007.13:g.94877510_94877511ins dbRIP insertion intron 1 dbRIP_1001986 NC_000007.13:g.100554103_100554104ins dbRIP insertion not within known transcription unit 1 dbRIP_1001987 NC_000007.13:g.101000403_101000404ins dbRIP insertion not within known transcription unit 1 dbRIP_1001988 NC_000007.13:g.49057625_49058036del dbRIP deletion not within known transcription unit 1 dbRIP_1001989 NC_000007.13:g.56244918_56244919ins dbRIP insertion not within known transcription unit 1 dbRIP_1001990 NC_000007.13:g.66610055_66610056ins dbRIP insertion intron 1 dbRIP_1001991 NC_000007.13:g.57346967_57346968ins dbRIP insertion not within known transcription unit 1 dbRIP_1001992 NC_000007.13:g.36252166_36252167ins dbRIP insertion intron 1 dbRIP_1001993 NC_000008.10:g.9807902_9807903ins dbRIP insertion not within known transcription unit 1 dbRIP_1001994 NC_000008.10:g.13561292_13561293ins dbRIP insertion not within known transcription unit 1 dbRIP_1001995 NC_000008.10:g.15399349_15399350ins dbRIP insertion intron 1 dbRIP_1001996 NC_000007.13:g.147704401_147704402ins dbRIP insertion not within known transcription unit 1 dbRIP_1001997 NC_000007.13:g.157448788_157448789ins dbRIP insertion intron 1 dbRIP_1001998 NC_000007.13:g.133581596_133581597ins dbRIP insertion intron 1 dbRIP_1001999 NC_000007.13:g.136369722_136369723ins dbRIP insertion not within known transcription unit 1 dbRIP_1002000 NC_000007.13:g.106622177_106622178ins dbRIP insertion not within known transcription unit 1 dbRIP_1002001 NC_000007.13:g.109283353_109283354ins dbRIP insertion not within known transcription unit 1 dbRIP_1002002 NC_000007.13:g.118083315_118083316ins dbRIP insertion not within known transcription unit 1 dbRIP_1002003 NC_000008.10:g.96657280_96657281ins dbRIP insertion not within known transcription unit 1 dbRIP_1002004 NC_000008.10:g.110079100_110079101ins dbRIP insertion not within known transcription unit 1 dbRIP_1002005 NC_000008.10:g.110101605_110101606ins dbRIP insertion intron 1 dbRIP_1002006 NC_000008.10:g.107207888_107207889ins dbRIP insertion not within known transcription unit 1 dbRIP_1002007 NC_000008.10:g.71914591_71914592ins dbRIP insertion not within known transcription unit 1 dbRIP_1002008 NC_000008.10:g.85437275_85437276ins dbRIP insertion intron 1 dbRIP_1002009 NC_000008.10:g.72206057_72206058ins dbRIP insertion intron 1 dbRIP_1002010 NC_000008.10:g.49045494_49045495ins dbRIP insertion not within known transcription unit 1 dbRIP_1002011 NC_000008.10:g.59615990_59615991ins dbRIP insertion not within known transcription unit 1 dbRIP_1002012 NC_000008.10:g.22483407_22483408ins dbRIP insertion intron 1 dbRIP_1002013 NC_000008.10:g.22779970_22779971ins dbRIP insertion intron 1 dbRIP_1002014 NC_000008.10:g.23042418_23042419ins dbRIP insertion not within known transcription unit 1 dbRIP_1002015 NC_000008.10:g.35069038_35069039ins dbRIP insertion not within known transcription unit 1 dbRIP_1002016 NC_000008.10:g.24779114_24779115ins dbRIP insertion not within known transcription unit 1 dbRIP_1002017 NC_000009.11:g.28195390_28195391ins dbRIP insertion intron 1 dbRIP_1002018 NC_000009.11:g.34115521_34115522ins dbRIP insertion intron 1 dbRIP_1002019 NC_000009.11:g.38767775_38767776ins dbRIP insertion not within known transcription unit 1 dbRIP_1002020 NC_000009.11:g.75231546_75231547ins dbRIP insertion intron 1 dbRIP_1002021 NC_000009.11:g.10461264_10461265ins dbRIP insertion intron 1 dbRIP_1002022 NC_000009.11:g.21261950_21261951ins dbRIP insertion not within known transcription unit 1 dbRIP_1002023 NC_000009.11:g.28960620_28960621ins dbRIP insertion not within known transcription unit 1 dbRIP_1002024 NC_000009.11:g.26476374_26476375ins dbRIP insertion not within known transcription unit 1 dbRIP_1002025 NC_000009.11:g.2326306_2326307ins dbRIP insertion not within known transcription unit 1 dbRIP_1002026 NC_000008.10:g.122155287_122155288ins dbRIP insertion not within known transcription unit 1 dbRIP_1002027 NC_000008.10:g.117047019_117047020ins dbRIP insertion not within known transcription unit 1 dbRIP_1002028 NC_000008.10:g.129708035_129708036ins dbRIP insertion not within known transcription unit 1 dbRIP_1002029 NC_000009.11:g.128980176_128980177ins dbRIP insertion not within known transcription unit 1 dbRIP_1002030 NC_000009.11:g.118509753_118509754ins dbRIP insertion not within known transcription unit 1 dbRIP_1002031 NC_000009.11:g.123055182_123055183ins dbRIP insertion not within known transcription unit 1 dbRIP_1002032 NC_000009.11:g.79583172_79583173ins dbRIP insertion not within known transcription unit 1 dbRIP_1002033 NC_000009.11:g.95282347_95282348ins dbRIP insertion intron 1 dbRIP_1002034 NC_000009.11:g.103362640_103362641ins dbRIP insertion not within known transcription unit 1 dbRIP_1002035 NC_000009.11:g.104223891_104223892ins dbRIP insertion not within known transcription unit 1 dbRIP_1002036 NC_000023.10:g.45318884_45318885ins dbRIP insertion not within known transcription unit 1 dbRIP_1002037 NC_000023.10:g.34242454_34242455ins dbRIP insertion not within known transcription unit 1 dbRIP_1002038 NC_000023.10:g.145897765_145897766ins dbRIP insertion not within known transcription unit 1 dbRIP_1002039 NC_000023.10:g.149451325_149451326ins dbRIP insertion not within known transcription unit 1 dbRIP_1002040 NC_000023.10:g.126290693_126290694ins dbRIP insertion not within known transcription unit 1 dbRIP_1002041 NC_000023.10:g.136349840_136349841ins dbRIP insertion not within known transcription unit 1 dbRIP_1002042 NC_000023.10:g.116838865_116838866ins dbRIP insertion not within known transcription unit 1 dbRIP_1002043 NC_000023.10:g.119527857_119527858ins dbRIP insertion not within known transcription unit 1 dbRIP_1002044 NC_000023.10:g.122672378_122672379ins dbRIP insertion not within known transcription unit 1 dbRIP_1002045 NC_000001.10:g.151012901_151013071del dbRIP deletion intron 1 dbRIP_1002046 NC_000001.10:g.210918500_210918501ins dbRIP insertion intron 1 dbRIP_1002047 NC_000001.10:g.191088719_191088720ins dbRIP insertion not within known transcription unit 1 dbRIP_1002048 NC_000001.10:g.246816183_246816184ins dbRIP insertion intron 1 dbRIP_1002049 NC_000010.10:g.31001280_31001281ins dbRIP insertion not within known transcription unit 1 dbRIP_1002050 NC_000010.10:g.14484815_14484816ins dbRIP insertion not within known transcription unit 1 dbRIP_1002051 NC_000011.9:g.103048566_103048583del dbRIP deletion intron 1 dbRIP_1002052 NC_000011.9:g.106066221_106066222ins dbRIP insertion not within known transcription unit 1 dbRIP_1002053 NC_000011.9:g.129455361_129455581del dbRIP deletion not within known transcription unit 1 dbRIP_1002054 NC_000012.11:g.3877466_3877608del dbRIP deletion not within known transcription unit 1 dbRIP_1002055 NC_000012.11:g.51572356_51572357ins dbRIP insertion not within known transcription unit 1 dbRIP_1002056 NC_000012.11:g.110306023_110306024ins dbRIP insertion intron 1 dbRIP_1002057 NC_000012.11:g.133445242_133445243ins dbRIP insertion intron 1 dbRIP_1002058 NC_000013.10:g.22427597_22427598ins dbRIP insertion not within known transcription unit 1 dbRIP_1002059 NC_000013.10:g.113830856_113830857ins dbRIP insertion not within known transcription unit 1 dbRIP_1002060 NC_000013.10:g.114011489_114011490ins dbRIP insertion intron 1 dbRIP_1002061 NC_000014.8:g.90254953_90254954ins dbRIP insertion not within known transcription unit 1 dbRIP_1002062 NC_000016.9:g.58099644_58099645ins dbRIP insertion not within known transcription unit 1 dbRIP_1002063 NC_000016.9:g.16262153_16262154ins dbRIP insertion intron 1 dbRIP_1002064 NC_000016.9:g.89684315_89684316ins dbRIP insertion not within known transcription unit 1 dbRIP_1002065 NC_000017.10:g.7449761_7449762ins dbRIP insertion not within known transcription unit 1 dbRIP_1002066 NC_000017.10:g.70698142_70698143ins dbRIP insertion intron 1 dbRIP_1002067 NC_000019.9:g.4561918_4561919ins dbRIP insertion not within known transcription unit 1 dbRIP_1002068 NC_000019.9:g.17833248_17833249ins dbRIP insertion intron 1 dbRIP_1002069 NC_000019.9:g.9177588_9177589ins dbRIP insertion not within known transcription unit 1 dbRIP_1002070 NC_000002.11:g.131886968_131887319del dbRIP deletion intron 1 dbRIP_1002071 NC_000002.11:g.86924448_86924449ins dbRIP insertion not within known transcription unit 1 dbRIP_1002072 NC_000020.10:g.42325254_42325255ins dbRIP insertion intron 1 dbRIP_1002073 NC_000020.10:g.48579873_48579874ins dbRIP insertion not within known transcription unit 1 dbRIP_1002074 NC_000003.11:g.54025300_54025301ins dbRIP insertion not within known transcription unit 1 dbRIP_1002075 NC_000003.11:g.155385877_155385878ins dbRIP insertion intron 1 dbRIP_1002076 NC_000004.11:g.25810565_25810566ins dbRIP insertion intron 1 dbRIP_1002077 NC_000004.11:g.14835696_14835697ins dbRIP insertion not within known transcription unit 1 dbRIP_1002078 NC_000004.11:g.161593975_161593976ins dbRIP insertion not within known transcription unit 1 dbRIP_1002079 NC_000004.11:g.128872834_128872835ins dbRIP insertion intron 1 dbRIP_1002080 NC_000005.9:g.177606116_177606117ins dbRIP insertion not within known transcription unit 1 dbRIP_1002081 NC_000006.11:g.122161776_122161777ins dbRIP insertion not within known transcription unit 1 dbRIP_1002082 NC_000008.10:g.73095139_73095159del dbRIP deletion not within known transcription unit 1 dbRIP_1002083 NC_000009.11:g.19279254_19279503del dbRIP deletion not within known transcription unit 1 dbRIP_1002084 NC_000008.10:g.128856064_128856065ins dbRIP insertion not within known transcription unit 1 dbRIP_1002085 NC_000023.10:g.145337257_145337258ins dbRIP insertion not within known transcription unit 1 dbRIP_1002086 NC_000003.11:g.193354980_193354981ins dbRIP insertion intron 1 dbRIP_4000001 NC_000006.11:g.31952469_31958829del dbRIP deletion intron 1 dbRIP_4000002 NC_000006.11:g.31985207_31991567del dbRIP deletion intron 1 dbRIP_4000003 NC_000019.9:g.21841542_21841543ins dbRIP insertion not within known transcription unit 1 dbRIP_4000004 NC_000008.10:g.7355397_7364858del dbRIP deletion intron 1 dbRIP_4000005 NC_000007.13:g.158029483_158030450del dbRIP deletion intron 1 dbRIP_4000006 NC_000003.11:g.14132685_14133652del dbRIP deletion not within known transcription unit 1 dbRIP_4000007 NC_000008.10:g.18651459_18652426del dbRIP deletion intron 1 dbRIP_4000008 NC_000012.11:g.55727215_55728183del dbRIP deletion not within known transcription unit 1 dbRIP_4000009 NC_000005.9:g.8937854_8938820del dbRIP deletion not within known transcription unit 1 dbRIP_4000010 NC_000009.11:g.124191384_124192351del dbRIP deletion not within known transcription unit 1 dbRIP_2000001 NC_000006.11:g.77980774_77980775ins dbRIP insertion not within known transcription unit 1 dbRIP_2000002 NC_000003.11:g.101279608_101279609ins dbRIP insertion not within known transcription unit 1 dbRIP_2000003 NC_000008.10:g.73787776_73793823del dbRIP deletion intron 1 dbRIP_2000004 NC_000021.8:g.19517561_19517562ins dbRIP insertion not within known transcription unit 1 dbRIP_2000005 NC_000006.11:g.85318159_85324220del dbRIP deletion intergenic;intergenic 1 dbRIP_2000006 NC_000009.11:g.9236253_9236254ins dbRIP insertion intron 1 dbRIP_2000007 NC_000005.9:g.77347681_77347682ins dbRIP insertion intron 1 dbRIP_2000008 NC_000002.11:g.23191263_23191264ins dbRIP insertion not within known transcription unit 1 dbRIP_2000009 NC_000012.11:g.12933361_12933362ins dbRIP insertion not within known transcription unit 1 dbRIP_2000010 NC_000006.11:g.78749188_78749189ins dbRIP insertion not within known transcription unit 1 dbRIP_2000011 NC_000004.11:g.94559455_94565490del dbRIP deletion intron 1 dbRIP_2000012 NC_000002.11:g.144618526_144624565del dbRIP deletion not within known transcription unit 1 dbRIP_2000013 NC_000014.8:g.48117943_48117944ins dbRIP insertion intron 1 dbRIP_2000014 NC_000004.11:g.103873120_103875607del dbRIP deletion intron 1 dbRIP_2000015 NC_000003.11:g.24987863_24987864ins dbRIP insertion not within known transcription unit 1 dbRIP_2000016 NC_000011.9:g.60851745_60853916del dbRIP deletion not within known transcription unit 1 dbRIP_2000017 NC_000007.13:g.113416177_113422207del dbRIP deletion intergenic;intergenic 1 dbRIP_2000018 NC_000017.10:g.68455098_68461176del dbRIP deletion not within known transcription unit 1 dbRIP_2000019 NC_000007.13:g.74213595_74213596ins dbRIP insertion intron 1 dbRIP_2000020 NC_000023.10:g.118569422_118575674del dbRIP deletion intron 1 dbRIP_2000021 NC_000005.9:g.165847587_165848572del dbRIP deletion not within known transcription unit 1 dbRIP_2000022 NC_000007.13:g.141620467_141626514del dbRIP deletion not within known transcription unit 1 dbRIP_2000023 NC_000018.9:g.12491263_12491264ins dbRIP insertion intron 1 dbRIP_2000024 NC_000003.11:g.83853129_83855349del dbRIP deletion intergenic;intergenic 1 dbRIP_2000025 NC_000009.11:g.92911888_92917935del dbRIP deletion not within known transcription unit 1 dbRIP_2000026 NC_000006.11:g.24811892_24817950del dbRIP deletion intron 1 dbRIP_2000027 NC_000009.11:g.104443980_104444727del dbRIP deletion intron 1 dbRIP_2000028 NC_000007.13:g.49719849_49725897del dbRIP deletion intergenic;intergenic 1 dbRIP_2000029 NC_000004.11:g.108127829_108131714del dbRIP deletion intergenic;intergenic 1 dbRIP_2000030 NC_000001.10:g.31040683_31041637del dbRIP deletion not within known transcription unit 1 dbRIP_2000031 NC_000004.11:g.181876803_181878288del dbRIP deletion not within known transcription unit 1 dbRIP_2000032 NC_000003.11:g.137072332_137073427del dbRIP deletion not within known transcription unit 1 dbRIP_2000033 NC_000008.10:g.129465169_129471266del dbRIP deletion intergenic;intergenic 1 dbRIP_2000034 NC_000006.11:g.129319531_129325574del dbRIP deletion intron 1 dbRIP_2000035 NC_000013.10:g.30215838_30221844del dbRIP deletion not within known transcription unit 1 dbRIP_2000036 NC_000005.9:g.24370543_24373436del dbRIP deletion not within known transcription unit 1 dbRIP_2000037 NC_000003.11:g.59852904_59852905ins dbRIP insertion intron 1 dbRIP_2000038 NC_000002.11:g.89029247_89032282del dbRIP deletion intron 1 dbRIP_2000039 NC_000006.11:g.74865449_74866584del dbRIP deletion not within known transcription unit 1 dbRIP_2000040 NC_000004.11:g.123573786_123578005del dbRIP deletion not within known transcription unit 1 dbRIP_2000041 NC_000010.10:g.6411581_6417629del dbRIP deletion intergenic;intergenic 1 dbRIP_2000042 NC_000002.11:g.34797629_34801576del dbRIP deletion not within known transcription unit 1 dbRIP_2000043 NC_000016.9:g.83670858_83676912del dbRIP deletion intron 1 dbRIP_2000044 NC_000009.11:g.69054139_69054140ins dbRIP insertion not within known transcription unit 1 dbRIP_2000045 NC_000018.9:g.69617272_69617273ins dbRIP insertion not within known transcription unit 1 dbRIP_2000046 NC_000003.11:g.186372107_186372108ins dbRIP insertion not within known transcription unit 1 dbRIP_2000047 NC_000013.10:g.48856436_48856437ins dbRIP insertion not within known transcription unit 1 dbRIP_2000048 NC_000004.11:g.175731731_175731732ins dbRIP insertion intron 1 dbRIP_2000049 NC_000005.9:g.34147947_34153969del dbRIP deletion not within known transcription unit 1 dbRIP_2000050 NC_000001.10:g.218245639_218246489del dbRIP deletion not within known transcription unit 1 dbRIP_2000051 NC_000012.11:g.33325658_33325659ins dbRIP insertion not within known transcription unit 1 dbRIP_2000052 NC_000004.11:g.137214654_137220701del dbRIP deletion not within known transcription unit 1 dbRIP_2000053 NC_000012.11:g.43256986_43256987ins dbRIP insertion not within known transcription unit 1 dbRIP_2000054 NC_000011.9:g.58171750_58171751ins dbRIP insertion promoter 1 dbRIP_2000055 NC_000006.11:g.63367783_63367784ins dbRIP insertion not within known transcription unit 1 dbRIP_2000056 NC_000006.11:g.108787075_108787076ins dbRIP insertion intron 1 dbRIP_2000057 NC_000003.11:g.89509980_89516006del dbRIP deletion intron 1 dbRIP_2000058 NC_000006.11:g.148195589_148195590ins dbRIP insertion not within known transcription unit 1 dbRIP_2000059 NC_000013.10:g.61462441_61462442ins dbRIP insertion not within known transcription unit 1 dbRIP_2000060 NC_000004.11:g.59622385_59622386ins dbRIP insertion not within known transcription unit 1 dbRIP_2000061 NC_000005.9:g.108595090_108601121del dbRIP deletion intergenic;intergenic 1 dbRIP_2000062 NC_000011.9:g.78388822_78394847del dbRIP deletion intron 1 dbRIP_2000063 NC_000012.11:g.84955305_84955306ins dbRIP insertion not within known transcription unit 1 dbRIP_2000064 NC_000006.11:g.32589512_32589513ins dbRIP insertion not within known transcription unit 1 dbRIP_2000065 NC_000005.9:g.151456431_151462447del dbRIP deletion not within known transcription unit 1 dbRIP_2000066 NC_000005.9:g.68263678_68263679ins dbRIP insertion not within known transcription unit 1 dbRIP_2000067 NC_000003.11:g.187835470_187835471ins dbRIP insertion not within known transcription unit 1 dbRIP_2000068 NC_000004.11:g.112628915_112628916ins dbRIP insertion not within known transcription unit 1 dbRIP_2000069 NC_000008.10:g.5829450_5829451ins dbRIP insertion not within known transcription unit 1 dbRIP_2000070 NC_000006.11:g.142450111_142450112ins dbRIP insertion not within known transcription unit 1 dbRIP_2000071 NC_000004.11:g.58917708_58917709ins dbRIP insertion not within known transcription unit 1 dbRIP_2000072 NC_000004.11:g.58887287_58888337del dbRIP deletion not within known transcription unit 1 dbRIP_2000073 NC_000006.11:g.46310202_46310203ins dbRIP insertion not within known transcription unit 1 dbRIP_2000074 NC_000006.11:g.133341835_133347885del dbRIP deletion intergenic;intergenic 1 dbRIP_2000075 NC_000011.9:g.67599021_67599022ins dbRIP insertion not within known transcription unit 1 dbRIP_2000076 NC_000005.9:g.1968411_1971378del dbRIP deletion not within known transcription unit 1 dbRIP_2000077 NC_000018.9:g.51952969_51956959del dbRIP deletion intergenic;intergenic;intergenic 1 dbRIP_2000078 NC_000005.9:g.147338022_147340528del dbRIP deletion not within known transcription unit 1 dbRIP_2000079 NC_000004.11:g.82929314_82931391del dbRIP deletion not within known transcription unit 1 dbRIP_2000080 NC_000023.10:g.11725367_11731399del dbRIP deletion intergenic;intergenic 1 dbRIP_2000081 NC_000023.10:g.11953200_11959435del dbRIP deletion intergenic;intergenic 1 dbRIP_2000082 NC_000007.13:g.31523780_31525253del dbRIP deletion not within known transcription unit 1 dbRIP_2000083 NC_000012.11:g.126783518_126789597del dbRIP deletion intergenic;intergenic 1 dbRIP_2000084 NC_000008.10:g.17859506_17860422del dbRIP deletion intron 1 dbRIP_2000085 NC_000023.10:g.55585161_55585162ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000086 NC_000007.13:g.130120655_130121250del dbRIP deletion not within known transcription unit 1 dbRIP_2000087 NC_000002.11:g.170105134_170111162del dbRIP deletion intron 1 dbRIP_2000088 NC_000002.11:g.144010806_144010807ins dbRIP insertion intron 1 dbRIP_2000089 NC_000019.9:g.52175938_52177513del dbRIP deletion not within known transcription unit 1 dbRIP_2000090 NC_000009.11:g.105073446_105073447ins dbRIP insertion not within known transcription unit 1 dbRIP_2000091 NC_000007.13:g.91426262_91426263ins dbRIP insertion not within known transcription unit 1 dbRIP_2000092 NC_000002.11:g.102042774_102042775ins dbRIP insertion intron 1 dbRIP_2000093 NC_000011.9:g.10042635_10042636ins dbRIP insertion intron 1 dbRIP_2000094 NC_000008.10:g.77337387_77338425del dbRIP deletion not within known transcription unit 1 dbRIP_2000095 NC_000004.11:g.18194454_18194455ins dbRIP insertion not within known transcription unit 1 dbRIP_2000096 NC_000009.11:g.72777541_72777542ins dbRIP insertion intron 1 dbRIP_2000097 NC_000023.10:g.81096654_81102690del dbRIP deletion intergenic;intergenic 1 dbRIP_2000098 NC_000008.10:g.107559498_107559499ins dbRIP insertion not within known transcription unit 1 dbRIP_2000099 NC_000008.10:g.131041214_131041215ins dbRIP insertion not within known transcription unit 1 dbRIP_2000100 NC_000002.11:g.4781311_4787356del dbRIP deletion intergenic;intergenic 1 dbRIP_2000101 NC_000005.9:g.40041812_40041813ins dbRIP insertion not within known transcription unit 1 dbRIP_2000102 NC_000004.11:g.7995811_7996893del dbRIP deletion intron 1 dbRIP_2000103 NC_000008.10:g.137223526_137223527ins dbRIP insertion not within known transcription unit 1 dbRIP_2000104 NC_000013.10:g.61221098_61221099ins dbRIP insertion not within known transcription unit 1 dbRIP_2000105 NC_000004.11:g.66809661_66809662ins dbRIP insertion not within known transcription unit 1 dbRIP_2000106 NC_000010.10:g.59145995_59145996ins dbRIP insertion not within known transcription unit 1 dbRIP_2000107 NC_000004.11:g.147225141_147225142ins dbRIP insertion intron 1 dbRIP_2000108 NC_000002.11:g.116244658_116246472del dbRIP deletion intron 1 dbRIP_2000109 NC_000015.9:g.83551636_83557670del dbRIP deletion intron 1 dbRIP_2000110 NC_000014.8:g.30854625_30854626ins dbRIP insertion not within known transcription unit 1 dbRIP_2000111 NC_000010.10:g.117385182_117385183ins dbRIP insertion intron 1 dbRIP_2000112 NC_000004.11:g.167677049_167683067del dbRIP deletion intron 1 dbRIP_2000113 NC_000003.11:g.80925314_80926602del dbRIP deletion not within known transcription unit 1 dbRIP_2000114 NC_000003.11:g.79216354_79216355ins dbRIP insertion intron 1 dbRIP_2000115 NC_000011.9:g.26417678_26417679ins dbRIP insertion intron 1 dbRIP_2000116 NC_000001.10:g.197500521_197503271del dbRIP deletion intron 1 dbRIP_2000117 NC_000006.11:g.110476746_110479767del dbRIP deletion intron 1 dbRIP_2000118 NC_000006.11:g.162181236_162181237ins dbRIP insertion intron 1 dbRIP_2000119 NC_000008.10:g.18454621_18455944del dbRIP deletion intron 1 dbRIP_2000120 NC_000010.10:g.110452962_110452963ins dbRIP insertion not within known transcription unit 1 dbRIP_2000121 NC_000010.10:g.18543811_18543812ins dbRIP insertion intron 1 dbRIP_2000122 NC_000015.9:g.100931240_100931241ins dbRIP insertion not within known transcription unit 1 dbRIP_2000123 NC_000001.10:g.74984530_74985253del dbRIP deletion intron 1 dbRIP_2000124 NC_000006.11:g.153029991_153033789del dbRIP deletion intron 1 dbRIP_2000125 NC_000001.10:g.193549641_193549642ins dbRIP insertion not within known transcription unit 1 dbRIP_2000126 NC_000002.11:g.181000155_181000156ins dbRIP insertion not within known transcription unit 1 dbRIP_2000127 NC_000006.11:g.29862913_29920212del dbRIP deletion not within known transcription unit 1 dbRIP_2000128 NC_000004.11:g.112815959_112821995del dbRIP deletion not within known transcription unit 1 dbRIP_2000129 NC_000012.11:g.3608326_3614396del dbRIP deletion intron 1 dbRIP_2000130 NC_000007.13:g.30478863_30484914del dbRIP deletion intron 1 dbRIP_2000131 NC_000002.11:g.103182803_103188850del dbRIP deletion not within known transcription unit 1 dbRIP_2000132 NC_000005.9:g.79074714_79080761del dbRIP deletion intron 1 dbRIP_2000133 NC_000015.9:g.71021854_71027508del dbRIP deletion intergenic;intergenic 1 dbRIP_2000134 NC_000008.10:g.135082930_135089015del dbRIP deletion intergenic;intergenic 1 dbRIP_2000135 NC_000003.11:g.98775501_98775502ins dbRIP insertion not within known transcription unit 1 dbRIP_2000136 NC_000007.13:g.62609196_62615238del dbRIP deletion not within known transcription unit 1 dbRIP_2000137 NC_000007.13:g.110347053_110353102del dbRIP deletion intron 1 dbRIP_2000138 NC_000001.10:g.247850476_247856508del dbRIP deletion intergenic;intergenic 1 dbRIP_2000139 NC_000001.10:g.174559265_174565516del dbRIP deletion intron 1 dbRIP_2000140 NC_000023.10:g.82314595_82320644del dbRIP deletion not within known transcription unit 1 dbRIP_2000141 NC_000023.10:g.141565634_141571716del dbRIP deletion not within known transcription unit 1 dbRIP_2000142 NC_000006.11:g.2418015_2424041del dbRIP deletion not within known transcription unit 1 dbRIP_2000143 NC_000020.10:g.7096794_7102846del dbRIP deletion intergenic;intergenic 1 dbRIP_2000144 NC_000022.10:g.29058955_29065311del dbRIP deletion intron 1 dbRIP_2000145 NC_000023.10:g.95308980_95319591del dbRIP deletion not within known transcription unit 1 dbRIP_2000146 NC_000001.10:g.180835934_180841992del dbRIP deletion intron 1 dbRIP_2000147 NC_000009.11:g.98459865_98465894del dbRIP deletion not within known transcription unit 1 dbRIP_2000148 NC_000010.10:g.111572125_111578216del dbRIP deletion intergenic;intergenic 1 dbRIP_2000149 NC_000006.11:g.102091561_102091562ins dbRIP insertion intron 1 dbRIP_2000150 NC_000001.10:g.187566805_187572893del dbRIP deletion not within known transcription unit 1 dbRIP_2000151 NC_000001.10:g.114039843_114045877del dbRIP deletion intron 1 dbRIP_2000152 NC_000011.9:g.95169382_95175439del dbRIP deletion not within known transcription unit 1 dbRIP_2000153 NC_000007.13:g.110883571_110889602del dbRIP deletion intron 1 dbRIP_2000154 NC_000017.10:g.68357431_68357432ins dbRIP insertion not within known transcription unit 1 dbRIP_2000155 NC_000010.10:g.13259269_13260740del dbRIP deletion not within known transcription unit 1 dbRIP_2000156 NC_000004.11:g.88270204_88274298del dbRIP deletion intron 1 dbRIP_2000157 NC_000009.11:g.46129231_46129798del dbRIP deletion not within known transcription unit 1 dbRIP_2000158 NC_000003.11:g.105473861_105474122del dbRIP deletion intron 1 dbRIP_2000159 NC_000007.13:g.69828329_69828466del dbRIP deletion intron 1 dbRIP_2000160 NC_000004.11:g.15843170_15849242del dbRIP deletion intron 1 dbRIP_2000161 NC_000004.11:g.21160870_21166654del dbRIP deletion intron 1 dbRIP_2000162 NC_000003.11:g.4080896_4081553del dbRIP deletion not within known transcription unit 1 dbRIP_2000163 NC_000020.10:g.12781657_12787692del dbRIP deletion not within known transcription unit 1 dbRIP_2000164 NC_000023.10:g.125077721_125077946del dbRIP deletion not within known transcription unit 1 dbRIP_2000165 NC_000006.11:g.66787565_66788301del dbRIP deletion not within known transcription unit 1 dbRIP_2000166 NC_000006.11:g.125609792_125610662del dbRIP deletion intron 1 dbRIP_2000167 NC_000014.8:g.20554478_20554658del dbRIP deletion not within known transcription unit 1 dbRIP_2000168 NC_000003.11:g.81769894_81770409del dbRIP deletion intron 1 dbRIP_2000169 NC_000005.9:g.15906550_15912662del dbRIP deletion intron 1 dbRIP_2000170 NC_000003.11:g.2048592_2050194del dbRIP deletion not within known transcription unit 1 dbRIP_2000171 NC_000003.11:g.34694363_34698177del dbRIP deletion not within known transcription unit 1 dbRIP_2000172 NC_000013.10:g.57793456_57794639del dbRIP deletion not within known transcription unit 1 dbRIP_2000173 NC_000013.10:g.88851208_88853104del dbRIP deletion not within known transcription unit 1 dbRIP_2000174 NC_000011.9:g.36573160_36578184del dbRIP deletion not within known transcription unit 1 dbRIP_2000175 NC_000002.11:g.134057491_134060412del dbRIP deletion intron 1 dbRIP_2000176 NC_000002.11:g.142788667_142789107del dbRIP deletion intron 1 dbRIP_2000177 NC_000002.11:g.108632006_108632122del dbRIP deletion not within known transcription unit 1 dbRIP_2000178 NC_000002.11:g.83066856_83068234del dbRIP deletion not within known transcription unit 1 dbRIP_2000179 NC_000003.11:g.26439507_26445536del dbRIP deletion not within known transcription unit 1 dbRIP_2000180 NC_000004.11:g.19170183_19170942del dbRIP deletion not within known transcription unit 1 dbRIP_2000181 NC_000004.11:g.147539830_147543192del dbRIP deletion not within known transcription unit 1 dbRIP_2000182 NC_000004.11:g.29532971_29533968del dbRIP deletion not within known transcription unit 1 dbRIP_2000183 NC_000004.11:g.71194625_71200088del dbRIP deletion promoter 1 dbRIP_2000184 NC_000005.9:g.155488942_155494977del dbRIP deletion not within known transcription unit 1 dbRIP_2000185 NC_000014.8:g.47195664_47196973del dbRIP deletion not within known transcription unit 1 dbRIP_2000186 NC_000018.9:g.72710498_72711330del dbRIP deletion intron 1 dbRIP_2000187 NC_000006.11:g.13503064_13503065ins dbRIP insertion intergenic;intergenic;intergenic 1 dbRIP_2000188 NC_000017.10:g.29659598_29659937del dbRIP deletion intron 1 dbRIP_2000189 NC_000021.8:g.26825147_26825398del dbRIP deletion not within known transcription unit 1 VAR_053345 Q9NYW1:p.Lys170Gln SP substitution exon 1 dbRIP_2000190 NC_000002.11:g.53625773_53627999del dbRIP deletion not within known transcription unit 1 dbRIP_2000191 NC_000007.13:g.145063229_145063384del dbRIP deletion not within known transcription unit 1 dbRIP_2000192 NC_000005.9:g.8749529_8749530ins dbRIP insertion not within known transcription unit 1 dbRIP_2000193 NC_000007.13:g.107829264_107829265ins dbRIP insertion intron 1 dbRIP_2000194 NC_000023.10:g.143406983_143409955del dbRIP deletion not within known transcription unit 1 dbRIP_2000195 NC_000006.11:g.32377901_32378653del dbRIP deletion not within known transcription unit 1 dbRIP_2000196 NC_000009.11:g.12556850_12559646del dbRIP deletion not within known transcription unit 1 dbRIP_2000197 NC_000006.11:g.70720240_70726289del dbRIP deletion intron 1 dbRIP_2000198 NC_000009.11:g.10136524_10137713del dbRIP deletion intron 1 dbRIP_2000199 NC_000007.13:g.134350008_134350422del dbRIP deletion intron 1 dbRIP_2000200 NC_000006.11:g.32676587_32677015del dbRIP deletion not within known transcription unit 1 dbRIP_2000201 NC_000001.10:g.101978990_101978991ins dbRIP insertion not within known transcription unit 1 dbRIP_2000202 NC_000001.10:g.83125977_83127569del dbRIP deletion not within known transcription unit 1 dbRIP_2000203 NC_000002.11:g.126509514_126510636del dbRIP deletion not within known transcription unit 1 dbRIP_2000204 NC_000003.11:g.41818077_41821493del dbRIP deletion intron 1 dbRIP_2000205 NC_000003.11:g.105306008_105311028del dbRIP deletion not within known transcription unit 1 dbRIP_2000206 NC_000004.11:g.21161003_21167097del dbRIP deletion intron 1 dbRIP_2000207 NC_000004.11:g.79269135_79275195del dbRIP deletion intron 1 dbRIP_2000208 NC_000005.9:g.96866424_96866425ins dbRIP insertion not within known transcription unit 1 dbRIP_2000209 NC_000005.9:g.151476244_151476363del dbRIP deletion not within known transcription unit 1 dbRIP_2000210 NC_000004.11:g.88483901_88486312del dbRIP deletion not within known transcription unit 1 dbRIP_2000211 NC_000013.10:g.86340147_86340148ins dbRIP insertion not within known transcription unit 1 dbRIP_2000212 NC_000016.9:g.18832545_18838376del dbRIP deletion intron 1 dbRIP_2000213 NC_000012.11:g.62295046_62295217del dbRIP deletion intron 1 dbRIP_2000214 NC_000002.11:g.160149127_160151648del dbRIP deletion not within known transcription unit 1 dbRIP_2000215 NC_000004.11:g.58087351_58087734del dbRIP deletion not within known transcription unit 1 dbRIP_2000216 NC_000022.10:g.18711526_18712024del dbRIP deletion not within known transcription unit 1 dbRIP_2000217 NC_000005.9:g.57680002_57686095del dbRIP deletion intergenic;intergenic 1 dbRIP_2000218 NC_000006.11:g.66260040_66262021del dbRIP deletion not within known transcription unit 1 dbRIP_2000219 NC_000012.11:g.43977461_43979549del dbRIP deletion not within known transcription unit 1 dbRIP_2000220 NC_000012.11:g.42238049_42238886del dbRIP deletion not within known transcription unit 1 dbRIP_2000221 NC_000002.11:g.76526513_76528893del dbRIP deletion not within known transcription unit 1 dbRIP_2000222 NC_000004.11:g.44507266_44507731del dbRIP deletion not within known transcription unit 1 dbRIP_2000223 NC_000015.9:g.53956116_53956117ins dbRIP insertion intron 1 dbRIP_2000224 NC_000014.8:g.43668869_43668870ins dbRIP insertion not within known transcription unit 1 dbRIP_2000225 NC_000023.10:g.42764614_42764615ins dbRIP insertion not within known transcription unit 1 dbRIP_2000226 NC_000011.9:g.55318807_55318808ins dbRIP insertion not within known transcription unit 1 dbRIP_2000227 NC_000009.11:g.113179381_113185474del dbRIP deletion intron 1 dbRIP_2000228 NC_000001.10:g.218182503_218188594del dbRIP deletion intergenic;intergenic 1 dbRIP_2000229 NC_000005.9:g.41599451_41600123del dbRIP deletion not within known transcription unit 1 dbRIP_2000230 NC_000004.11:g.66641121_66641421del dbRIP deletion not within known transcription unit 1 dbRIP_2000231 NC_000016.9:g.84489371_84492101del dbRIP deletion intron 1 dbRIP_2000232 NC_000005.9:g.166393766_166399820del dbRIP deletion not within known transcription unit 1 dbRIP_2000233 NC_000002.11:g.2261420_2263187del dbRIP deletion intron 1 dbRIP_2000234 NC_000001.10:g.189084944_189085239del dbRIP deletion not within known transcription unit 1 dbRIP_2000235 NC_000009.11:g.88426132_88427784del dbRIP deletion intron 1 dbRIP_2000236 NC_000006.11:g.127938085_127939718del dbRIP deletion not within known transcription unit 1 dbRIP_2000237 NC_000014.8:g.51520209_51520589del dbRIP deletion intron 1 dbRIP_2000238 NC_000011.9:g.94073806_94074666del dbRIP deletion not within known transcription unit 1 dbRIP_2000239 NC_000021.8:g.32212253_32214181del dbRIP deletion not within known transcription unit 1 dbRIP_2000240 NC_000002.11:g.134966718_134970130del dbRIP deletion intergenic;intergenic 1 dbRIP_2000241 NC_000002.11:g.119653330_119659368del dbRIP deletion not within known transcription unit 1 dbRIP_2000242 NC_000016.9:g.60930389_60930701del dbRIP deletion not within known transcription unit 1 dbRIP_2000243 NC_000016.9:g.60910046_60913916del dbRIP deletion not within known transcription unit 1 dbRIP_2000244 NC_000001.10:g.199438744_199440233del dbRIP deletion not within known transcription unit 1 dbRIP_2000245 NC_000004.11:g.164658313_164659132del dbRIP deletion intron 1 dbRIP_2000246 NC_000005.9:g.132918981_132924990del dbRIP deletion intron 1 dbRIP_2000247 NC_000005.9:g.132934099_132934100ins dbRIP insertion intron 1 dbRIP_2000248 NC_000018.9:g.47911014_47911274del dbRIP deletion intron 1 dbRIP_2000249 NC_000003.11:g.7347034_7347322del dbRIP deletion intron 1 dbRIP_2000250 NC_000003.11:g.134673917_134674555del dbRIP deletion intron 1 dbRIP_2000251 NC_000014.8:g.81469128_81469427del dbRIP deletion intron 1 dbRIP_2000252 NC_000007.13:g.93416942_93422991del dbRIP deletion intergenic;intergenic 1 dbRIP_2000253 NC_000001.10:g.238852318_238853250del dbRIP deletion not within known transcription unit 1 dbRIP_2000254 NC_000014.8:g.40098410_40100213del dbRIP deletion not within known transcription unit 1 dbRIP_2000255 NC_000014.8:g.83635854_83636483del dbRIP deletion not within known transcription unit 1 dbRIP_2000256 NC_000014.8:g.29728050_29728802del dbRIP deletion not within known transcription unit 1 dbRIP_2000257 NC_000020.10:g.42024613_42025792del dbRIP deletion not within known transcription unit 1 dbRIP_2000258 NC_000010.10:g.29712155_29712718del dbRIP deletion not within known transcription unit 1 dbRIP_2000259 NC_000006.11:g.51739582_51745600del dbRIP deletion intron 1 dbRIP_2000260 NC_000001.10:g.184814744_184820784del dbRIP deletion intron 1 dbRIP_2000261 NC_000001.10:g.91914107_91914550del dbRIP deletion not within known transcription unit 1 dbRIP_2000262 NC_000017.10:g.58587422_58587423ins dbRIP insertion intron 1 dbRIP_2000263 NC_000005.9:g.8749504_8749505ins dbRIP insertion not within known transcription unit 1 dbRIP_2000264 NC_000017.10:g.15511194_15511195ins dbRIP insertion intron 1 dbRIP_2000265 NC_000004.11:g.80768677_80768678ins dbRIP insertion intron 1 dbRIP_2000266 NC_000011.9:g.37448811_37448896del dbRIP deletion not within known transcription unit 1 dbRIP_2000267 NC_000012.11:g.62335221_62341271del dbRIP deletion intron 1 dbRIP_2000268 NC_000012.11:g.83844045_83844608del dbRIP deletion not within known transcription unit 1 dbRIP_2000269 NC_000013.10:g.46906900_46907036del dbRIP deletion not within known transcription unit 1 dbRIP_2000270 NC_000014.8:g.52404346_52404457del dbRIP deletion intron 1 dbRIP_2000271 NC_000015.9:g.29411483_29411896del dbRIP deletion not within known transcription unit 1 dbRIP_2000272 NC_000018.9:g.41031553_41032528del dbRIP deletion not within known transcription unit 1 dbRIP_2000273 NC_000018.9:g.51762747_51762748ins dbRIP insertion not within known transcription unit 1 dbRIP_2000274 NC_000020.10:g.54434622_54440616del dbRIP deletion intergenic;intergenic 1 dbRIP_2000275 NC_000003.11:g.4066937_4069555del dbRIP deletion intergenic;intergenic 1 dbRIP_2000276 NC_000003.11:g.33553208_33554075del dbRIP deletion intron 1 dbRIP_2000277 NC_000003.11:g.152311739_152313155del dbRIP deletion not within known transcription unit 1 dbRIP_2000278 NC_000004.11:g.40966456_40966457ins dbRIP insertion intron 1 dbRIP_2000279 NC_000004.11:g.46056009_46058195del dbRIP deletion intron 1 dbRIP_2000280 NC_000004.11:g.78236275_78236540del dbRIP deletion not within known transcription unit 1 dbRIP_2000281 NC_000004.11:g.91596799_91602908del dbRIP deletion intron 1 dbRIP_2000282 NC_000006.11:g.57423087_57429120del dbRIP deletion intron 1 dbRIP_2000283 NC_000006.11:g.66595055_66595830del dbRIP deletion not within known transcription unit 1 dbRIP_2000284 NC_000007.13:g.88091308_88091749del dbRIP deletion not within known transcription unit 1 dbRIP_2000285 NC_000008.10:g.126595130_126601134del dbRIP deletion intergenic;intergenic 1 dbRIP_2000286 NC_000009.11:g.18578671_18579517del dbRIP deletion intron 1 dbRIP_2000287 NC_000001.10:g.65909639_65909892del dbRIP deletion intron 1 dbRIP_2000288 NC_000008.10:g.109147976_109147977ins dbRIP insertion not within known transcription unit 1 dbRIP_2000289 NC_000001.10:g.221827822_221827823ins dbRIP insertion not within known transcription unit 1 dbRIP_2000290 NC_000005.9:g.89450782_89450783ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000291 NC_000006.11:g.97431586_97431587ins dbRIP insertion intron 1 dbRIP_2000292 NC_000007.13:g.110484746_110484747ins dbRIP insertion intron 1 dbRIP_2000293 NC_000008.10:g.83740694_83740695ins dbRIP insertion not within known transcription unit 1 dbRIP_2000294 NC_000008.10:g.87315034_87315035ins dbRIP insertion not within known transcription unit 1 dbRIP_2000295 NC_000017.10:g.28398305_28398322del dbRIP deletion intron 1 dbRIP_2000296 NC_000001.10:g.144578297_144578453del dbRIP deletion not within known transcription unit 1 dbRIP_2000297 NC_000001.10:g.243054961_243055401del dbRIP deletion not within known transcription unit 1 dbRIP_2000298 NC_000001.10:g.86740987_86741697del dbRIP deletion not within known transcription unit 1 dbRIP_2000299 NC_000001.10:g.56831125_56834961del dbRIP deletion not within known transcription unit 1 dbRIP_2000300 NC_000002.11:g.176346683_176352721del dbRIP deletion intergenic;intergenic 1 dbRIP_2000301 NC_000002.11:g.97836012_97837484del dbRIP deletion intron 1 dbRIP_2000302 NC_000002.11:g.196051832_196052085del dbRIP deletion not within known transcription unit 1 dbRIP_2000303 NC_000002.11:g.97840284_97844567del dbRIP deletion intron 1 dbRIP_2000304 NC_000002.11:g.110554595_110554829del dbRIP deletion intron 1 dbRIP_2000305 NC_000002.11:g.88206533_88206978del dbRIP deletion not within known transcription unit 1 dbRIP_2000306 NC_000003.11:g.82936659_82936957del dbRIP deletion not within known transcription unit 1 dbRIP_2000307 NC_000003.11:g.22092362_22097796del dbRIP deletion intergenic;intergenic;intergenic 1 dbRIP_2000308 NC_000004.11:g.152340723_152341552del dbRIP deletion intron 1 dbRIP_2000309 NC_000004.11:g.139468854_139473222del dbRIP deletion not within known transcription unit 1 dbRIP_2000310 NC_000004.11:g.124943568_124945186del dbRIP deletion not within known transcription unit 1 dbRIP_2000311 NC_000004.11:g.102787779_102788352del dbRIP deletion intron 1 dbRIP_2000312 NC_000004.11:g.70239840_70240253del dbRIP deletion not within known transcription unit 1 dbRIP_2000313 NC_000004.11:g.80888063_80894092del dbRIP deletion intergenic;intergenic 1 dbRIP_2000314 NC_000004.11:g.120300197_120300673del dbRIP deletion not within known transcription unit 1 dbRIP_2000315 NC_000004.11:g.190058015_190064272del dbRIP deletion intergenic;intergenic 1 dbRIP_2000316 NC_000005.9:g.69855764_69855824del dbRIP deletion not within known transcription unit 1 dbRIP_2000317 NC_000005.9:g.68979690_68979749del dbRIP deletion intron 1 dbRIP_2000318 NC_000005.9:g.69166365_69166425del dbRIP deletion not within known transcription unit 1 dbRIP_2000319 NC_000005.9:g.69559428_69559488del dbRIP deletion intron 1 dbRIP_2000320 NC_000005.9:g.103854289_103860326del dbRIP deletion intergenic;intergenic;intergenic 1 dbRIP_2000321 NC_000006.11:g.19953007_19953122del dbRIP deletion not within known transcription unit 1 dbRIP_2000322 NC_000006.11:g.57478161_57478855del dbRIP deletion intron 1 dbRIP_2000323 NC_000006.11:g.86708754_86714791del dbRIP deletion not within known transcription unit 1 dbRIP_2000324 NC_000007.13:g.61773346_61773725del dbRIP deletion not within known transcription unit 1 dbRIP_2000325 NC_000007.13:g.108578224_108578225ins dbRIP insertion not within known transcription unit 1 dbRIP_2000326 NC_000007.13:g.9634651_9635977del dbRIP deletion not within known transcription unit 1 dbRIP_2000327 NC_000007.13:g.144382761_144382897del dbRIP deletion intron 1 dbRIP_2000328 NC_000007.13:g.32390166_32393112del dbRIP deletion intergenic;intergenic 1 dbRIP_2000329 NC_000008.10:g.18427136_18427373del dbRIP deletion intron 1 dbRIP_2000330 NC_000008.10:g.71583572_71584643del dbRIP deletion intron 1 dbRIP_2000331 NC_000010.10:g.127745196_127745980del dbRIP deletion intron 1 dbRIP_2000332 NC_000010.10:g.5012759_5013160del dbRIP deletion intron 1 dbRIP_2000333 NC_000011.9:g.49713022_49713565del dbRIP deletion intron 1 dbRIP_2000334 NC_000011.9:g.89556604_89557729del dbRIP deletion not within known transcription unit 1 dbRIP_2000335 NC_000011.9:g.93150768_93150769ins dbRIP insertion intron 1 dbRIP_2000336 NC_000011.9:g.24349496_24355548del dbRIP deletion not within known transcription unit 1 dbRIP_2000337 NC_000011.9:g.122347589_122349258del dbRIP deletion not within known transcription unit 1 dbRIP_2000338 NC_000015.9:g.55218231_55224424del dbRIP deletion intergenic;intergenic;intergenic 1 dbRIP_2000339 NC_000016.9:g.88251045_88253311del dbRIP deletion not within known transcription unit 1 dbRIP_2000340 NC_000016.9:g.27050117_27050242del dbRIP deletion not within known transcription unit 1 dbRIP_2000341 NC_000018.9:g.12202434_12208459del dbRIP deletion not within known transcription unit 1 dbRIP_2000342 NC_000018.9:g.12181628_12187773del dbRIP deletion not within known transcription unit 1 dbRIP_2000343 NC_000020.10:g.29498096_29498597del dbRIP deletion not within known transcription unit 1 dbRIP_2000344 NC_000022.10:g.16995520_16998569del dbRIP deletion not within known transcription unit 1 dbRIP_2000345 NC_000023.10:g.48118892_48120169del dbRIP deletion intron 1 dbRIP_2000346 NC_000023.10:g.16427697_16428212del dbRIP deletion not within known transcription unit 1 dbRIP_2000347 NC_000023.10:g.31098368_31098369ins dbRIP insertion not within known transcription unit 1 dbRIP_2000348 NC_000023.10:g.69820866_69820867ins dbRIP insertion intron 1 dbRIP_2000349 NC_000023.10:g.146559254_146559345del dbRIP deletion not within known transcription unit 1 dbRIP_2000350 NC_000023.10:g.90948634_90948888del dbRIP deletion not within known transcription unit 1 dbRIP_2000351 NC_000005.9:g.33797555_33797556ins dbRIP insertion intron 1 dbRIP_2000352 NC_000002.11:g.36570420_36570421ins dbRIP insertion not within known transcription unit 1 dbRIP_2000353 NC_000018.9:g.51451059_51451060ins dbRIP insertion not within known transcription unit 1 dbRIP_2000354 NC_000006.11:g.16079560_16079561ins dbRIP insertion not within known transcription unit 1 dbRIP_2000355 NC_000014.8:g.59220403_59220404ins dbRIP insertion not within known transcription unit 1 dbRIP_2000356 NC_000009.11:g.111564970_111564971ins dbRIP insertion not within known transcription unit 1 dbRIP_2000357 NC_000004.11:g.141603230_141603231ins dbRIP insertion intron 1 dbRIP_2000358 NC_000017.10:g.32813611_32813612ins dbRIP insertion not within known transcription unit 1 dbRIP_2000359 NC_000006.11:g.108786473_108786474ins dbRIP insertion intron 1 dbRIP_2000360 NC_000005.9:g.33797189_33797190ins dbRIP insertion intron 1 dbRIP_2000361 NC_000013.10:g.86921410_86921411ins dbRIP insertion not within known transcription unit 1 dbRIP_2000362 NC_000020.10:g.41951331_41951332ins dbRIP insertion not within known transcription unit 1 dbRIP_2000363 NC_000014.8:g.45174254_45180307del dbRIP deletion not within known transcription unit 1 dbRIP_2000364 NC_000013.10:g.72968677_72968678ins dbRIP insertion not within known transcription unit 1 dbRIP_2000365 NC_000006.11:g.55594908_55595130del dbRIP deletion not within known transcription unit 1 dbRIP_2000366 NC_000006.11:g.113024949_113030984del dbRIP deletion not within known transcription unit 1 dbRIP_2000367 NC_000011.9:g.48755847_48755848ins dbRIP insertion not within known transcription unit 1 dbRIP_2000368 NC_000005.9:g.135746722_135747161del dbRIP deletion not within known transcription unit 1 dbRIP_2000369 NC_000003.11:g.154628872_154632632del dbRIP deletion not within known transcription unit 1 dbRIP_2000370 NC_000005.9:g.154802077_154802078ins dbRIP insertion not within known transcription unit 1 dbRIP_2000371 NC_000001.10:g.71248594_71248595ins dbRIP insertion not within known transcription unit 1 dbRIP_2000372 NC_000023.10:g.81746652_81748146del dbRIP deletion not within known transcription unit 1 dbRIP_2000373 NC_000002.11:g.73354395_73354854del dbRIP deletion not within known transcription unit 1 dbRIP_2000374 NC_000015.9:g.24383040_24383928del dbRIP deletion not within known transcription unit 1 dbRIP_2000375 NC_000003.11:g.40081689_40082484del dbRIP deletion intron 1 dbRIP_2000376 NC_000012.11:g.61766962_61767253del dbRIP deletion not within known transcription unit 1 dbRIP_2000377 NC_000004.11:g.120869847_120875914del dbRIP deletion not within known transcription unit 1 dbRIP_2000378 NC_000001.10:g.149308421_149308422ins dbRIP insertion not within known transcription unit 1 dbRIP_2000379 NC_000009.11:g.102615607_102617479del dbRIP deletion intron 1 dbRIP_2000380 NC_000011.9:g.37811181_37811182ins dbRIP insertion not within known transcription unit 1 dbRIP_2000381 NC_000003.11:g.154628886_154632631del dbRIP deletion not within known transcription unit 1 dbRIP_2000382 NC_000023.10:g.150588601_150588602ins dbRIP insertion not within known transcription unit 1 dbRIP_2000383 NC_000009.11:g.94058480_94058481ins dbRIP insertion intron 1 dbRIP_2000384 NC_000003.11:g.154628877_154632626del dbRIP deletion not within known transcription unit 1 dbRIP_2000385 NC_000023.10:g.137145227_137146487del dbRIP deletion not within known transcription unit 1 dbRIP_2000386 NC_000006.11:g.65477021_65477022ins dbRIP insertion intron 1 dbRIP_2000387 NC_000006.11:g.19765126_19771184del dbRIP deletion intergenic;intergenic 1 dbRIP_2000388 NC_000004.11:g.108276700_108277777del dbRIP deletion not within known transcription unit 1 dbRIP_2000389 NC_000023.10:g.146735253_146741323del dbRIP deletion not within known transcription unit 1 dbRIP_2000390 NC_000011.9:g.5247055_5247056ins dbRIP insertion intron 1 dbRIP_2000391 NC_000023.10:g.154159018_154159019ins dbRIP insertion exon 1 dbRIP_2000392 NC_000023.10:g.31893390_31893391ins dbRIP insertion exon 1 dbRIP_2000393 NC_000023.10:g.154158414_154158415ins dbRIP insertion exon 1 dbRIP_2000394 NC_000009.11:g.108380217_108380218ins dbRIP insertion intron 1 dbRIP_2000395 NC_000005.9:g.112175867_112175868ins dbRIP insertion exon 1 dbRIP_2000396 NC_000023.10:g.32235037_32235038ins dbRIP insertion exon 1 dbRIP_2000397 NC_000023.10:g.46697284_46697285ins dbRIP insertion intron 1 dbRIP_2000398 NC_000023.10:g.138630581_138630582ins dbRIP insertion exon 1 dbRIP_2000399 NC_000023.10:g.37651238_37651239ins dbRIP insertion exon 1 dbRIP_2000400 NC_000023.10:g.20222230_20222231ins dbRIP insertion intron 1 dbRIP_2000401 NC_000023.10:g.85213962_85213963ins dbRIP insertion exon 1 dbRIP_2000402 NC_000023.10:g.33229476_33229477ins dbRIP insertion exon 1 dbRIP_2000403 NC_000023.10:g.138642965_138642966ins dbRIP insertion exon 1 dbRIP_2000404 NC_000023.10:g.37654943_37654944ins dbRIP insertion intron 1 dbRIP_2000405 NC_000001.10:g.12876225_12876226ins dbRIP insertion not within known transcription unit 1 dbRIP_2000406 NC_000001.10:g.102568927_102568928ins dbRIP insertion not within known transcription unit 1 dbRIP_2000407 NC_000010.10:g.19216667_19216668ins dbRIP insertion not within known transcription unit 1 dbRIP_2000408 NC_000010.10:g.59508864_59508865ins dbRIP insertion not within known transcription unit 1 dbRIP_2000409 NC_000011.9:g.26418544_26418545ins dbRIP insertion intron 1 dbRIP_2000410 NC_000011.9:g.33670139_33670140ins dbRIP insertion intron 1 dbRIP_2000411 NC_000011.9:g.98196306_98196307ins dbRIP insertion not within known transcription unit 1 dbRIP_2000412 NC_000011.9:g.134305642_134305643ins dbRIP insertion not within known transcription unit 1 dbRIP_2000413 NC_000013.10:g.58922382_58922383ins dbRIP insertion not within known transcription unit 1 dbRIP_2000414 NC_000013.10:g.104296239_104296240ins dbRIP insertion not within known transcription unit 1 dbRIP_2000415 NC_000013.10:g.79259793_79259794ins dbRIP insertion not within known transcription unit 1 dbRIP_2000416 NC_000013.10:g.91626232_91626233ins dbRIP insertion not within known transcription unit 1 dbRIP_2000417 NC_000014.8:g.36674760_36674761ins dbRIP insertion not within known transcription unit 1 dbRIP_2000418 NC_000014.8:g.94874620_94874621ins dbRIP insertion not within known transcription unit 1 dbRIP_2000419 NC_000015.9:g.100931162_100931163ins dbRIP insertion not within known transcription unit 1 dbRIP_2000420 NC_000016.9:g.6793826_6793827ins dbRIP insertion intron 1 dbRIP_2000421 NC_000017.10:g.4314993_4314994ins dbRIP insertion not within known transcription unit 1 dbRIP_2000422 NC_000018.9:g.59579975_59579976ins dbRIP insertion not within known transcription unit 1 dbRIP_2000423 NC_000002.11:g.7050595_7050596ins dbRIP insertion not within known transcription unit 1 dbRIP_2000424 NC_000002.11:g.147020927_147020928ins dbRIP insertion not within known transcription unit 1 dbRIP_2000425 NC_000002.11:g.181000555_181000556ins dbRIP insertion not within known transcription unit 1 dbRIP_2000426 NC_000003.11:g.82710137_82710138ins dbRIP insertion not within known transcription unit 1 dbRIP_2000427 NC_000003.11:g.176091334_176091335ins dbRIP insertion not within known transcription unit 1 dbRIP_2000428 NC_000004.11:g.47007785_47007786ins dbRIP insertion not within known transcription unit 1 dbRIP_2000429 NC_000004.11:g.58126677_58126678ins dbRIP insertion not within known transcription unit 1 dbRIP_2000430 NC_000004.11:g.29321865_29321866ins dbRIP insertion not within known transcription unit 1 dbRIP_2000431 NC_000004.11:g.18162689_18162690ins dbRIP insertion not within known transcription unit 1 dbRIP_2000432 NC_000004.11:g.147225292_147225293ins dbRIP insertion intron 1 dbRIP_2000433 NC_000004.11:g.127596192_127596209del dbRIP deletion not within known transcription unit 1 dbRIP_2000434 NC_000005.9:g.33633348_33633349ins dbRIP insertion intron 1 dbRIP_2000435 NC_000005.9:g.125040046_125040047ins dbRIP insertion not within known transcription unit 1 dbRIP_2000436 NC_000005.9:g.137014795_137014796ins dbRIP insertion intron 1 dbRIP_2000437 NC_000005.9:g.109480273_109480274ins dbRIP insertion not within known transcription unit 1 dbRIP_2000438 NC_000005.9:g.84239615_84239672del dbRIP deletion not within known transcription unit 1 dbRIP_2000439 NC_000006.11:g.102283772_102283773ins dbRIP insertion intron 1 dbRIP_2000440 NC_000006.11:g.69198746_69198747ins dbRIP insertion not within known transcription unit 1 dbRIP_2000441 NC_000006.11:g.148195809_148195810ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000442 NC_000007.13:g.70188690_70188691ins dbRIP insertion intron 1 dbRIP_2000443 NC_000008.10:g.5829285_5829286ins dbRIP insertion not within known transcription unit 1 dbRIP_2000444 NC_000008.10:g.87315040_87315041ins dbRIP insertion not within known transcription unit 1 dbRIP_2000445 NC_000009.11:g.32463888_32463889ins dbRIP insertion intron 1 dbRIP_2000446 NC_000008.10:g.119721703_119721704ins dbRIP insertion not within known transcription unit 1 dbRIP_2000447 NC_000009.11:g.118083886_118083887ins dbRIP insertion intron 1 dbRIP_2000448 NC_000023.10:g.129525281_129525282ins dbRIP insertion not within known transcription unit 1 dbRIP_2000449 NC_000010.10:g.87176285_87176295del dbRIP deletion not within known transcription unit 1 dbRIP_2000450 NC_000010.10:g.121624181_121624182ins dbRIP insertion intron 1 dbRIP_2000451 NC_000011.9:g.91135452_91135453ins dbRIP insertion not within known transcription unit 1 dbRIP_2000452 NC_000012.11:g.13164453_13164454ins dbRIP insertion not within known transcription unit 1 dbRIP_2000453 NC_000012.11:g.77487751_77487752ins dbRIP insertion not within known transcription unit 1 dbRIP_2000454 NC_000012.11:g.74824681_74824682ins dbRIP insertion not within known transcription unit 1 dbRIP_2000455 NC_000013.10:g.61289902_61289903ins dbRIP insertion not within known transcription unit 1 dbRIP_2000456 NC_000002.11:g.118629408_118629409ins dbRIP insertion not within known transcription unit 1 dbRIP_2000457 NC_000003.11:g.181871052_181871053ins dbRIP insertion not within known transcription unit 1 dbRIP_2000458 NC_000004.11:g.4359671_4359672ins dbRIP insertion not within known transcription unit 1 dbRIP_2000459 NC_000005.9:g.13855996_13855997ins dbRIP insertion intron 1 dbRIP_2000460 NC_000004.11:g.190429483_190429484ins dbRIP insertion not within known transcription unit 1 dbRIP_2000461 NC_000006.11:g.120825423_120825424ins dbRIP insertion not within known transcription unit 1 dbRIP_2000462 NC_000007.13:g.52025190_52025191ins dbRIP insertion not within known transcription unit 1 dbRIP_2000463 NC_000023.10:g.26034445_26034446ins dbRIP insertion not within known transcription unit 1 dbRIP_2000464 NC_000004.11:g.139468879_139473239del dbRIP deletion intergenic;intergenic 1 dbRIP_2000465 NC_000011.9:g.49125634_49127629del dbRIP deletion not within known transcription unit 1 dbRIP_2000466 NC_000006.11:g.91669522_91669523ins dbRIP insertion not within known transcription unit 1 dbRIP_2000467 NC_000006.11:g.46310307_46310308ins dbRIP insertion not within known transcription unit 1 dbRIP_2000468 NC_000005.9:g.67564219_67564220ins dbRIP insertion intron 1 dbRIP_2000469 NC_000008.10:g.24926546_24926547ins dbRIP insertion not within known transcription unit 1 dbRIP_2000470 NC_000023.10:g.143406977_143409968del dbRIP deletion not within known transcription unit 1 dbRIP_2000471 NC_000023.10:g.95316300_95318844del dbRIP deletion not within known transcription unit 1 dbRIP_2000472 NC_000001.10:g.183969686_183969687ins dbRIP insertion intron 1 dbRIP_2000473 NC_000011.9:g.40841289_40841290ins dbRIP insertion not within known transcription unit 1 dbRIP_2000474 NC_000006.11:g.162181267_162181268ins dbRIP insertion intron 1 dbRIP_2000475 NC_000003.11:g.89022347_89022348ins dbRIP insertion not within known transcription unit 1 dbRIP_2000476 NC_000002.11:g.78992045_78992046ins dbRIP insertion not within known transcription unit 1 dbRIP_2000477 NC_000004.11:g.16944254_16950743del dbRIP deletion not within known transcription unit 1 dbRIP_2000478 NC_000011.9:g.93154151_93158134del dbRIP deletion intron 1 dbRIP_2000479 NC_000005.9:g.121576132_121580808del dbRIP deletion not within known transcription unit 1 dbRIP_2000480 NC_000012.11:g.13546687_13546688ins dbRIP insertion not within known transcription unit 1 dbRIP_2000481 NC_000023.10:g.85605184_85609863del dbRIP deletion intron 1 dbRIP_2000482 NC_000014.8:g.76211359_76211360ins dbRIP insertion intron 1 dbRIP_2000483 NC_000010.10:g.78346605_78351577del dbRIP deletion not within known transcription unit 1 dbRIP_2000484 NC_000002.11:g.83188340_83188341ins dbRIP insertion not within known transcription unit 1 dbRIP_2000485 NC_000003.11:g.144610084_144610085ins dbRIP insertion not within known transcription unit 1 dbRIP_2000486 NC_000004.11:g.98103819_98103820ins dbRIP insertion not within known transcription unit 1 dbRIP_2000487 NC_000003.11:g.84433396_84433397ins dbRIP insertion not within known transcription unit 1 dbRIP_2000488 NC_000023.10:g.98264303_98264304ins dbRIP insertion not within known transcription unit 1 dbRIP_2000489 NC_000023.10:g.143704691_143704692ins dbRIP insertion not within known transcription unit 1 dbRIP_2000490 NC_000007.13:g.96475902_96481994del dbRIP deletion intergenic;intergenic 1 dbRIP_2000491 NC_000017.10:g.68357410_68357411ins dbRIP insertion not within known transcription unit 1 dbRIP_2000492 NC_000002.11:g.35879355_35879356ins dbRIP insertion not within known transcription unit 1 dbRIP_2000493 NC_000013.10:g.52843774_52849794del dbRIP deletion not within known transcription unit 1 dbRIP_2000494 NC_000010.10:g.91717647_91717648ins dbRIP insertion not within known transcription unit 1 dbRIP_2000495 NC_000011.9:g.110377895_110377896ins dbRIP insertion not within known transcription unit 1 dbRIP_2000496 NC_000011.9:g.92869805_92875913del dbRIP deletion intergenic;intergenic 1 dbRIP_2000497 NC_000022.10:g.28455917_28455918ins dbRIP insertion intron 1 dbRIP_2000498 NC_000016.9:g.16934379_16940414del dbRIP deletion not within known transcription unit 1 dbRIP_2000499 NC_000012.11:g.28226428_28226429ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000500 NC_000004.11:g.88268261_88274298del dbRIP deletion intron 1 dbRIP_2000501 NC_000012.11:g.65689254_65689255ins dbRIP insertion intron 1 dbRIP_2000502 NC_000006.11:g.108982610_108982611ins dbRIP insertion intron 1 dbRIP_2000503 NC_000004.11:g.112628974_112628975ins dbRIP insertion not within known transcription unit 1 dbRIP_2000504 NC_000017.10:g.18776468_18776469ins dbRIP insertion intron 1 dbRIP_2000505 NC_000013.10:g.41006644_41006645ins dbRIP insertion intron 1 dbRIP_2000506 NC_000014.8:g.86952525_86952526ins dbRIP insertion not within known transcription unit 1 dbRIP_2000507 NC_000002.11:g.79929389_79929390ins dbRIP insertion intron 1 dbRIP_2000508 NC_000003.11:g.151688103_151688104ins dbRIP insertion not within known transcription unit 1 dbRIP_2000509 NC_000001.10:g.66024189_66030267del dbRIP deletion intron 1 dbRIP_2000510 NC_000002.11:g.173179997_173186104del dbRIP deletion not within known transcription unit 1 dbRIP_2000511 NC_000004.11:g.147141638_147141639ins dbRIP insertion not within known transcription unit 1 dbRIP_2000512 NC_000018.9:g.15095263_15095264ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000513 NC_000007.13:g.66591187_66591188ins dbRIP insertion intron 1 dbRIP_2000514 NC_000007.13:g.42529876_42529877ins dbRIP insertion not within known transcription unit 1 dbRIP_2000515 NC_000018.9:g.51425744_51425745ins dbRIP insertion not within known transcription unit 1 dbRIP_2000516 NC_000018.9:g.49216233_49216234ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000517 NC_000002.11:g.144626236_144626237ins dbRIP insertion not within known transcription unit 1 dbRIP_2000518 NC_000016.9:g.71028024_71028025ins dbRIP insertion intron 1 dbRIP_2000519 NC_000007.13:g.56652491_56658515del dbRIP deletion not within known transcription unit 1 dbRIP_2000520 NC_000005.9:g.13416608_13422853del dbRIP deletion not within known transcription unit 1 dbRIP_2000521 NC_000014.8:g.68784255_68784256ins dbRIP insertion intron 1 dbRIP_2000522 NC_000002.11:g.23191017_23191018ins dbRIP insertion not within known transcription unit 1 dbRIP_2000523 NC_000002.11:g.82098044_82098045ins dbRIP insertion not within known transcription unit 1 dbRIP_2000524 NC_000015.9:g.47507343_47507344ins dbRIP insertion not within known transcription unit 1 dbRIP_2000525 NC_000021.8:g.23626206_23626207ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000526 NC_000009.11:g.7741408_7741409ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000527 NC_000003.11:g.151148556_151148557ins dbRIP insertion intron 1 dbRIP_2000528 NC_000010.10:g.36759287_36759288ins dbRIP insertion not within known transcription unit 1 dbRIP_2000529 NC_000018.9:g.47870321_47876356del dbRIP deletion not within known transcription unit 1 dbRIP_2000530 NC_000013.10:g.107436440_107436441ins dbRIP insertion not within known transcription unit 1 dbRIP_2000531 NC_000004.11:g.59944566_59950596del dbRIP deletion not within known transcription unit 1 dbRIP_2000532 NC_000001.10:g.179575378_179575379ins dbRIP insertion intron 1 dbRIP_2000533 NC_000002.11:g.42051417_42051418ins dbRIP insertion not within known transcription unit 1 dbRIP_2000534 NC_000005.9:g.21207733_21207734ins dbRIP insertion not within known transcription unit 1 dbRIP_2000535 NC_000014.8:g.31150827_31150828ins dbRIP insertion intron 1 dbRIP_2000536 NC_000015.9:g.56251153_56251154ins dbRIP insertion intron 1 dbRIP_2000537 NC_000020.10:g.17860936_17860937ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000538 NC_000002.11:g.144010794_144010795ins dbRIP insertion intron 1 dbRIP_2000539 NC_000006.11:g.13191034_13191035ins dbRIP insertion intron 1 dbRIP_2000540 NC_000001.10:g.84517940_84524629del dbRIP deletion not within known transcription unit 1 dbRIP_2000541 NC_000017.10:g.64637295_64637296ins dbRIP insertion intron 1 dbRIP_2000542 NC_000022.10:g.17246066_17246067ins dbRIP insertion not within known transcription unit 1 dbRIP_2000543 NC_000002.11:g.149814499_149814500ins dbRIP insertion intron 1 dbRIP_2000544 NC_000014.8:g.67419882_67419883ins dbRIP insertion intron 1 dbRIP_2000545 NC_000017.10:g.33135427_33135428ins dbRIP insertion not within known transcription unit 1 dbRIP_2000546 NC_000003.11:g.38626083_38626084ins dbRIP insertion intron 1 dbRIP_2000547 NC_000003.11:g.55788580_55788581ins dbRIP insertion intron 1 dbRIP_2000548 NC_000010.10:g.124455232_124455233ins dbRIP insertion not within known transcription unit 1 dbRIP_2000549 NC_000008.10:g.123643885_123643886ins dbRIP insertion not within known transcription unit 1 dbRIP_2000550 NC_000001.10:g.32004352_32004353ins dbRIP insertion not within known transcription unit 1 dbRIP_2000551 NC_000002.11:g.156527850_156527851ins dbRIP insertion not within known transcription unit 1 dbRIP_2000552 NC_000002.11:g.43887577_43893639del dbRIP deletion intron 1 dbRIP_2000553 NC_000010.10:g.5287318_5293345del dbRIP deletion not within known transcription unit 1 dbRIP_2000554 NC_000004.11:g.19079466_19085550del dbRIP deletion not within known transcription unit 1 dbRIP_2000555 NC_000007.13:g.3891250_3891251ins dbRIP insertion intron 1 dbRIP_2000556 NC_000003.11:g.186372142_186372143ins dbRIP insertion not within known transcription unit 1 dbRIP_2000557 NC_000023.10:g.94852553_94852554ins dbRIP insertion not within known transcription unit 1 dbRIP_2000558 NC_000020.10:g.9477937_9477938ins dbRIP insertion not within known transcription unit 1 dbRIP_2000559 NC_000001.10:g.95801858_95801859ins dbRIP insertion not within known transcription unit 1 dbRIP_2000560 NC_000015.9:g.35654145_35654146ins dbRIP insertion not within known transcription unit 1 dbRIP_2000561 NC_000014.8:g.52667768_52667769ins dbRIP insertion not within known transcription unit 1 dbRIP_2000562 NC_000005.9:g.76426456_76426457ins dbRIP insertion intron 1 dbRIP_2000563 NC_000023.10:g.33425671_33425672ins dbRIP insertion intergenic;intergenic 1 dbRIP_2000564 NC_000005.9:g.35815142_35815143ins dbRIP insertion downstream 1 dbRIP_2000565 NC_000007.13:g.53652517_53652518ins dbRIP insertion not within known transcription unit 1 dbRIP_2000566 NC_000004.11:g.82206577_82206578ins dbRIP insertion not within known transcription unit 1 dbRIP_2000567 NC_000003.11:g.20748905_20748906ins dbRIP insertion not within known transcription unit 1 dbRIP_2000568 NC_000001.10:g.215716045_215716046ins dbRIP insertion not within known transcription unit 1 dbRIP_2000569 NC_000006.11:g.63368208_63368209ins dbRIP insertion not within known transcription unit 1 dbRIP_2000570 NC_000012.11:g.117814461_117814462ins dbRIP insertion not within known transcription unit 1 dbRIP_2000571 NC_000003.11:g.81991007_81991008ins dbRIP insertion not within known transcription unit 1 dbRIP_2000572 NC_000002.11:g.191478715_191478716ins dbRIP insertion not within known transcription unit 1 dbRIP_2000573 NC_000011.9:g.10042453_10042454ins dbRIP insertion intron 1 dbRIP_2000574 NC_000007.13:g.8886716_8886717ins dbRIP insertion not within known transcription unit 1 dbRIP_2000575 NC_000002.11:g.57521070_57521071ins dbRIP insertion not within known transcription unit 1 dbRIP_2000576 NC_000007.13:g.105967896_105967897ins dbRIP insertion not within known transcription unit 1 dbRIP_2000577 NC_000003.11:g.169269965_169269966ins dbRIP insertion intron 1 dbRIP_2000578 NC_000012.11:g.126802943_126802944ins dbRIP insertion not within known transcription unit 1 dbRIP_2000579 NC_000016.9:g.27425941_27425942ins dbRIP insertion not within known transcription unit 1 dbRIP_2000580 NC_000013.10:g.61462345_61462346ins dbRIP insertion not within known transcription unit 1 dbRIP_2000581 NC_000015.9:g.34031852_34031853ins dbRIP insertion intron 1 dbRIP_2000582 NC_000001.10:g.116548032_116548033ins dbRIP insertion intron 1 dbRIP_2000583 NC_000001.10:g.165553150_165553151ins dbRIP insertion not within known transcription unit 1 dbRIP_2000584 NC_000011.9:g.36558498_36558499ins dbRIP insertion not within known transcription unit 1 dbRIP_2000585 NC_000009.11:g.94416770_94416771ins dbRIP insertion not within known transcription unit 1 dbRIP_2000586 NC_000003.11:g.131069780_131069781ins dbRIP insertion downstream 1 dbRIP_2000587 NC_000012.11:g.34017339_34017340ins dbRIP insertion not within known transcription unit 1 dbRIP_2000588 NC_000002.11:g.36570277_36570278ins dbRIP insertion not within known transcription unit 1 dbRIP_2000589 NC_000008.10:g.72399237_72399238ins dbRIP insertion not within known transcription unit 1 dbRIP_2000590 NC_000023.10:g.68696886_68696887ins dbRIP insertion not within known transcription unit 1 dbRIP_2000591 NC_000009.11:g.5491419_5491420ins dbRIP insertion not within known transcription unit 1 dbRIP_2000592 NC_000011.9:g.67599047_67599048ins dbRIP insertion not within known transcription unit 1 dbRIP_2000593 NC_000002.11:g.144304980_144304981ins dbRIP insertion intron 1 dbRIP_2000594 NC_000016.9:g.33755034_33761079del dbRIP deletion not within known transcription unit 1 dbRIP_2000595 NC_000008.10:g.85428621_85428622ins dbRIP insertion intron 1 dbRIP_2000596 NC_000022.10:g.22715604_22715605ins dbRIP insertion not within known transcription unit 1 dbRIP_2000597 NC_000002.11:g.167844962_167851208del dbRIP deletion intron 1 dbRIP_2000598 NC_000009.11:g.72777423_72777424ins dbRIP insertion intron 1 dbRIP_3000001 NC_000011.9:g.20569191_20571178del dbRIP deletion not within known transcription unit 1 dbRIP_3000002 NC_000012.11:g.70594865_70597577del dbRIP deletion not within known transcription unit 1 dbRIP_3000003 NC_000013.10:g.43539810_43541447del dbRIP deletion intron 1 dbRIP_3000004 NC_000013.10:g.49951415_49953856del dbRIP deletion intron 1 dbRIP_3000005 NC_000014.8:g.35507716_35509507del dbRIP deletion not within known transcription unit 1 dbRIP_3000006 NC_000014.8:g.65360397_65363540del dbRIP deletion not within known transcription unit 1 dbRIP_3000007 NC_000017.10:g.18791154_18792163del dbRIP deletion intron 1 dbRIP_3000008 NC_000017.10:g.64265058_64266114del dbRIP deletion not within known transcription unit 1 dbRIP_3000009 NC_000017.10:g.29305608_29308414del dbRIP deletion intron 1 dbRIP_3000010 NC_000019.9:g.53096023_53097608del dbRIP deletion not within known transcription unit 1 dbRIP_3000011 NC_000019.9:g.53689178_53691951del dbRIP deletion intron 1 dbRIP_3000012 NC_000001.10:g.25158704_25161509del dbRIP deletion intron 1 dbRIP_3000013 NC_000001.10:g.113611340_113613777del dbRIP deletion not within known transcription unit 1 dbRIP_3000014 NC_000001.10:g.212471154_212472616del dbRIP deletion intron 1 dbRIP_3000015 NC_000020.10:g.42676141_42676531del dbRIP deletion intron 1 dbRIP_3000016 NC_000020.10:g.2803163_2806409del dbRIP deletion not within known transcription unit 1 dbRIP_3000017 NC_000022.10:g.27168077_27169792del dbRIP deletion not within known transcription unit 1 dbRIP_3000018 NC_000022.10:g.24195950_24198505del dbRIP deletion promoter 1 dbRIP_3000019 NC_000022.10:g.41140132_41142634del dbRIP deletion not within known transcription unit 1 dbRIP_3000020 NC_000002.11:g.170641519_170643951del dbRIP deletion not within known transcription unit 1 dbRIP_3000021 NC_000002.11:g.217089944_217092498del dbRIP deletion not within known transcription unit 1 dbRIP_3000022 NC_000002.11:g.202146659_202149440del dbRIP deletion intron 1 dbRIP_3000023 NC_000003.11:g.194121173_194121921del dbRIP deletion not within known transcription unit 1 dbRIP_3000024 NC_000003.11:g.145813640_145815615del dbRIP deletion intron 1 dbRIP_3000025 NC_000005.9:g.137022579_137023886del dbRIP deletion intron 1 dbRIP_3000026 NC_000005.9:g.75466596_75468901del dbRIP deletion intron 1 dbRIP_3000027 NC_000006.11:g.29685489_29688080del dbRIP deletion not within known transcription unit 1 dbRIP_3000028 NC_000006.11:g.29899783_29901526del dbRIP deletion not within known transcription unit 1 dbRIP_3000029 NC_000006.11:g.74369527_74371707del dbRIP deletion not within known transcription unit 1 dbRIP_3000030 NC_000006.11:g.158548283_158549066del dbRIP deletion intron 1 dbRIP_3000031 NC_000007.13:g.1185079_1187654del dbRIP deletion not within known transcription unit 1 dbRIP_3000032 NC_000007.13:g.10504317_10506133del dbRIP deletion not within known transcription unit 1 dbRIP_3000033 NC_000007.13:g.55286759_55289061del dbRIP deletion not within known transcription unit 1 dbRIP_3000034 NC_000007.13:g.101001267_101003795del dbRIP deletion not within known transcription unit 1 dbRIP_3000035 NC_000008.10:g.85753075_85753076ins dbRIP insertion intron 1 dbRIP_3000036 NC_000009.11:g.33423377_33424654del dbRIP deletion intron 1 dbRIP_3000037 NC_000009.11:g.84324364_84326926del dbRIP deletion not within known transcription unit 1 dbRIP_3000038 NC_000009.11:g.110033455_110035444del dbRIP deletion not within known transcription unit 1 dbRIP_3000039 NC_000001.10:g.158650458_158650459ins dbRIP insertion exon 1 dbRIP_3000040 NC_000009.11:g.108401938_108401939ins dbRIP insertion exon 1 dbRIP_3000041 NC_000023.10:g.100615087_100615088ins dbRIP insertion exon 1 dbRIP_3000042 NC_000001.10:g.46705885_46708626del dbRIP deletion not within known transcription unit 1 dbRIP_3000043 NC_000001.10:g.86680741_86683023del dbRIP deletion not within known transcription unit 1 dbRIP_3000044 NC_000001.10:g.45688657_45689567del dbRIP deletion not within known transcription unit 1 dbRIP_3000045 NC_000020.10:g.52866253_52867342del dbRIP deletion not within known transcription unit 1 dbRIP_3000046 NC_000002.11:g.11042072_11044053del dbRIP deletion not within known transcription unit 1 dbRIP_3000047 NC_000002.11:g.41973157_41975865del dbRIP deletion not within known transcription unit 1 dbRIP_3000048 NC_000002.11:g.48781853_48784867del dbRIP deletion not within known transcription unit 1 dbRIP_3000049 NC_000002.11:g.114151343_114153611del dbRIP deletion not within known transcription unit 1 dbRIP_3000050 NC_000002.11:g.208474496_208476784del dbRIP deletion exon 1 dbRIP_3000051 NC_000002.11:g.223760192_223762671del dbRIP deletion not within known transcription unit 1 dbRIP_3000052 NC_000005.9:g.32207706_32209763del dbRIP deletion not within known transcription unit 1 dbRIP_3000053 NC_000005.9:g.176387599_176390173del dbRIP deletion intron 1 dbRIP_3000054 NC_000005.9:g.43086412_43089296del dbRIP deletion not within known transcription unit 1 dbRIP_3000055 NC_000006.11:g.5037249_5039168del dbRIP deletion not within known transcription unit 1 dbRIP_3000056 NC_000006.11:g.125708766_125711352del dbRIP deletion not within known transcription unit 1 dbRIP_3000057 NC_000007.13:g.25057462_25059853del dbRIP deletion not within known transcription unit 1 dbRIP_3000058 NC_000007.13:g.138296457_138297208del dbRIP deletion intron 1 dbRIP_3000059 NC_000007.13:g.20707289_20709366del dbRIP deletion intron 1 dbRIP_3000060 NC_000007.13:g.65857660_65860104del dbRIP deletion intron 1 dbRIP_3000061 NC_000007.13:g.152281704_152284305del dbRIP deletion not within known transcription unit 1 dbRIP_3000062 NC_000008.10:g.43033738_43036379del dbRIP deletion intron 1 dbRIP_3000063 NC_000008.10:g.52446038_52448303del dbRIP deletion intron 1 dbRIP_3000064 NC_000011.9:g.9104551_9104552ins dbRIP insertion intron 1 dbRIP_3000065 NC_000011.9:g.66162115_66162116ins dbRIP insertion not within known transcription unit 1 dbRIP_3000066 NC_000013.10:g.42223736_42223737ins dbRIP insertion intron 1 dbRIP_3000067 NC_000013.10:g.82367711_82367712ins dbRIP insertion not within known transcription unit 1 dbRIP_3000068 NC_000014.8:g.81786783_81786784ins dbRIP insertion intron 1 dbRIP_3000069 NC_000014.8:g.92619421_92619422ins dbRIP insertion intron 1 dbRIP_3000070 NC_000017.10:g.4959209_4959210ins dbRIP insertion not within known transcription unit 1 dbRIP_3000071 NC_000017.10:g.80759992_80759993ins dbRIP insertion intron 1 dbRIP_3000072 NC_000019.9:g.24011304_24011305ins dbRIP insertion downstream 1 dbRIP_3000073 NC_000003.11:g.147607853_147607854ins dbRIP insertion not within known transcription unit 1 dbRIP_3000074 NC_000005.9:g.55448013_55448014ins dbRIP insertion intron 1 dbRIP_3000075 NC_000005.9:g.141379670_141379671ins dbRIP insertion not within known transcription unit 1 dbRIP_3000076 NC_000006.11:g.153429857_153429858ins dbRIP insertion intron 1 dbRIP_3000077 NC_000009.11:g.134289811_134289812ins dbRIP insertion not within known transcription unit 1 ALPL_c.-195C>T NM000478.3(ALPL):c.-195C>T ALPL substitution not within known transcription unit 1 ALPL_c.3G>A NM000478.3(ALPL):c.3G>A ALPL substitution exon 1 ALPL_c.17T>A NM000478.3(ALPL):c.17T>A ALPL substitution exon 1 ALPL_c.41T>C NM000478.3(ALPL):c.41T>C ALPL substitution exon 1 ALPL_c.43_46delACTA NM000478.3(ALPL):c.43_46delACTA ALPL deletion exon 1 ALPL_c.50C>T NM000478.3(ALPL):c.50C>T ALPL substitution exon 1 ALPL_c.83A>G NM000478.3(ALPL):c.83A>G ALPL substitution exon 1 ALPL_c.88C>T NM000478.3(ALPL):c.88C>T ALPL substitution exon 1 ALPL_c.94C>T NM000478.3(ALPL):c.94C>T ALPL substitution exon 1 ALPL_c.98C>T NM000478.3(ALPL):c.98C>T ALPL substitution exon 1 ALPL_c.106A>C NM000478.3(ALPL):c.106A>C ALPL substitution exon 1 ALPL_c.110T>C NM000478.3(ALPL):c.110T>C ALPL substitution exon 1 ALPL_c.119C>T NM000478.3(ALPL):c.119C>T ALPL substitution exon 1 ALPL_c.130C>T NM000478.3(ALPL):c.130C>T ALPL substitution exon 1 ALPL_c.151G>T NM000478.3(ALPL):c.151G>T ALPL substitution exon 1 ALPL_c.152C>T NM000478.3(ALPL):c.152C>T ALPL substitution exon 1 ALPL_c.184A>T NM000478.3(ALPL):c.184A>T ALPL substitution exon 1 ALPL_c.184A>G NM000478.3(ALPL):c.184A>G ALPL substitution exon 1 ALPL_c.186G>C NM000478.3(ALPL):c.186G>C ALPL substitution exon 1 ALPL_c.187G>C NM000478.3(ALPL):c.187G>C ALPL substitution exon 1 ALPL_c.187_205del19 NM000478.3(ALPL):c.187_205del19 ALPL deletion exon 1 ALPL_c.188G>T NM000478.3(ALPL):c.188G>T ALPL substitution exon 1 ALPL_c.203C>T NM000478.3(ALPL):c.203C>T ALPL substitution exon 1 ALPL_c.211C>T NM000478.3(ALPL):c.211C>T ALPL substitution exon 1 ALPL_c.211C>A NM000478.3(ALPL):c.211C>A ALPL substitution exon 1 ALPL_c.212G>C NM000478.3(ALPL):c.212G>C ALPL substitution exon 1 ALPL_c.212G>A NM000478.3(ALPL):c.212G>A ALPL substitution exon 1 ALPL_c.215T>C NM000478.3(ALPL):c.215T>C ALPL substitution exon 1 ALPL_c.223G>A NM000478.3(ALPL):c.223G>A ALPL substitution exon 1 ALPL_c.227A>G NM000478.3(ALPL):c.227A>G ALPL substitution exon 1 ALPL_c.242delC NM000478.3(ALPL):c.242delC ALPL deletion exon 1 ALPL_c.247G>T NM000478.3(ALPL):c.247G>T ALPL substitution exon 1 ALPL_c.251A>T NM000478.3(ALPL):c.251A>T ALPL substitution exon 1 ALPL_c.262G>A NM000478.3(ALPL):c.262G>A ALPL substitution exon 1 ALPL_c.277C>T NM000478.3(ALPL):c.277C>T ALPL substitution exon 1 ALPL_c.297+3G>T NM000478.3(ALPL):c.297+3G>T ALPL substitution intron 1 ALPL_c.298-2A>G NM000478.3(ALPL):c.298-2A>G ALPL substitution intron 1 ALPL_c.299C>T NM000478.3(ALPL):c.299C>T ALPL substitution exon 1 ALPL_c.303_311del NM000478.3(ALPL):c.303_311del ALPL deletion exon 1 ALPL_c.318G>C NM000478.3(ALPL):c.318G>C ALPL substitution exon 1 ALPL_c.323C>T NM000478.3(ALPL):c.323C>T ALPL substitution exon 1 ALPL_c.331G>A NM000478.3(ALPL):c.331G>A ALPL substitution exon 1 ALPL_c.334G>A NM000478.3(ALPL):c.334G>A ALPL substitution exon 1 ALPL_c.335_340dupGCACCG NM000478.3(ALPL):c.335_340dupGCACCG ALPL duplication exon 1 ALPL_c.340G>A NM000478.3(ALPL):c.340G>A ALPL substitution exon 1 ALPL_c.341C>G NM000478.3(ALPL):c.341C>G ALPL substitution exon 1 ALPL_c.346G>T NM000478.3(ALPL):c.346G>T ALPL substitution exon 1 ALPL_c.346G>A NM000478.3(ALPL):c.346G>A ALPL substitution exon 1 ALPL_c.348_349insACCGTC NM000478.3(ALPL):c.348_349insACCGTC ALPL insertion exon 1 ALPL_c.343_348dupACCGCC NM000478.3(ALPL):c.343_348dupACCGCC ALPL duplication exon 1 ALPL_c.350A>G NM000478.3(ALPL):c.350A>G ALPL substitution exon 1 ALPL_c.358G>A NM000478.3(ALPL):c.358G>A ALPL substitution exon 1 ALPL_c.368C>A NM000478.3(ALPL):c.368C>A ALPL substitution exon 1 ALPL_c.382G>A NM000478.3(ALPL):c.382G>A ALPL substitution exon 1 ALPL_c.385G>A NM000478.3(ALPL):c.385G>A ALPL substitution exon 1 ALPL_c.388_391delGTAA NM000478.3(ALPL):c.388_391delGTAA ALPL deletion exon 1 ALPL_c.389delT NM000478.3(ALPL):c.389delT ALPL deletion exon 1 ALPL_c.392delG NM000478.3(ALPL):c.392delG ALPL deletion exon 1 ALPL_c.394G>A NM000478.3(ALPL):c.394G>A ALPL substitution exon 1 ALPL_c.395C>T NM000478.3(ALPL):c.395C>T ALPL substitution exon 1 ALPL_c.400_401delinsCA NM000478.3(ALPL):c.400_401delinsCA ALPL complex exon 1 ALPL_c.401C>A NM000478.3(ALPL):c.401C>A ALPL substitution exon 1 ALPL_c.406C>T NM000478.3(ALPL):c.406C>T ALPL substitution exon 1 ALPL_c.407G>A NM000478.3(ALPL):c.407G>A ALPL substitution exon 1 ALPL_c.422C>T NM000478.3(ALPL):c.422C>T ALPL substitution exon 1 ALPL_c.442A>G NM000478.3(ALPL):c.442A>G ALPL substitution exon 1 ALPL_c.443C>T NM000478.3(ALPL):c.443C>T ALPL substitution exon 1 ALPL_c.454C>T NM000478.3(ALPL):c.454C>T ALPL substitution exon 1 ALPL_c.457T>C NM000478.3(ALPL):c.457T>C ALPL substitution exon 1 ALPL_c.472+1G>A NM000478.3(ALPL):c.472+1G>A ALPL substitution intron 1 ALPL_c.480delT NM000478.3(ALPL):c.480delT ALPL deletion exon 1 ALPL_c.484G>A NM000478.3(ALPL):c.484G>A ALPL substitution exon 1 ALPL_c.485G>T NM000478.3(ALPL):c.485G>T ALPL substitution exon 1 ALPL_c.491T>G NM000478.3(ALPL):c.491T>G ALPL substitution exon 1 ALPL_c.500C>T NM000478.3(ALPL):c.500C>T ALPL substitution exon 1 ALPL_c.508A>G NM000478.3(ALPL):c.508A>G ALPL substitution exon 1 ALPL_c.511C>T NM000478.3(ALPL):c.511C>T ALPL substitution exon 1 ALPL_c.512A>G NM000478.3(ALPL):c.512A>G ALPL substitution exon 1 ALPL_c.526G>A NM000478.3(ALPL):c.526G>A ALPL substitution exon 1 ALPL_c.529G>A NM000478.3(ALPL):c.529G>A ALPL substitution exon 1 ALPL_c.535G>A NM000478.3(ALPL):c.535G>A ALPL substitution exon 1 ALPL_c.542C>T NM000478.3(ALPL):c.542C>T ALPL substitution exon 1 ALPL_c.544delG NM000478.3(ALPL):c.544delG ALPL deletion exon 1 ALPL_c.547G>C NM000478.3(ALPL):c.547G>C ALPL substitution exon 1 ALPL_c.550C>T NM000478.3(ALPL):c.550C>T ALPL substitution exon 1 ALPL_c.567C>A NM000478.3(ALPL):c.567C>A ALPL substitution exon 1 ALPL_c.568_570delAAC NM000478.3(ALPL):c.568_570delAAC ALPL deletion exon 1 ALPL_c.571G>A NM000478.3(ALPL):c.571G>A ALPL substitution exon 1 ALPL_c.572A>G NM000478.3(ALPL):c.572A>G ALPL substitution exon 1 ALPL_c.575T>C NM000478.3(ALPL):c.575T>C ALPL substitution exon 1 ALPL_c.577C>G NM000478.3(ALPL):c.577C>G ALPL substitution exon 1 ALPL_c.602G>A NM000478.3(ALPL):c.602G>A ALPL substitution exon 1 ALPL_c.609C>G NM000478.3(ALPL):c.609C>G ALPL substitution exon 1 ALPL_c.620A>C NM000478.3(ALPL):c.620A>C ALPL substitution exon 1 ALPL_c.622C>T NM000478.3(ALPL):c.622C>T ALPL substitution exon 1 ALPL_c.630_637dupTAACATCA NM000478.3(ALPL):c.630_637dupTAACATCA ALPL duplication exon 1 ALPL_c.631A>G NM000478.3(ALPL):c.631A>G ALPL substitution exon 1 ALPL_c.634A>T NM000478.3(ALPL):c.634A>T ALPL substitution exon 1 ALPL_c.644T>C NM000478.3(ALPL):c.644T>C ALPL substitution exon 1 ALPL_c.648+1G>T NM000478.3(ALPL):c.648+1G>T ALPL substitution intron 1 ALPL_c.648+1G>A NM000478.3(ALPL):c.648+1G>A ALPL substitution intron 1 ALPL_c.649-1_649-3delinsAA NM000478.3(ALPL):c.649-1_649-3delinsAA ALPL complex intron 1 ALPL_c.650delTinsCTAA NM000478.3(ALPL):c.650delTinsCTAA ALPL complex exon 1 ALPL_c.653T>C NM000478.3(ALPL):c.653T>C ALPL substitution exon 1 ALPL_c.658G>A NM000478.3(ALPL):c.658G>A ALPL substitution exon 1 ALPL_c.659G>T NM000478.3(ALPL):c.659G>T ALPL substitution exon 1 ALPL_c.659G>C NM000478.3(ALPL):c.659G>C ALPL substitution exon 1 ALPL_c.661G>C NM000478.3(ALPL):c.661G>C ALPL substitution exon 1 ALPL_c.662_663insG NM000478.3(ALPL):c.662_663insG ALPL insertion exon 1 ALPL_c.662delG NM000478.3(ALPL):c.662delG ALPL deletion exon 1 ALPL_c.662G>T NM000478.3(ALPL):c.662G>T ALPL substitution exon 1 ALPL_c.667C>T NM000478.3(ALPL):c.667C>T ALPL substitution exon 1 ALPL_c.668G>A NM000478.3(ALPL):c.668G>A ALPL substitution exon 1 ALPL_c.670A>G NM000478.3(ALPL):c.670A>G ALPL substitution exon 1 ALPL_c.677T>C NM000478.3(ALPL):c.677T>C ALPL substitution exon 1 ALPL_c.704A>G NM000478.3(ALPL):c.704A>G ALPL substitution exon 1 ALPL_c.738G>T NM000478.3(ALPL):c.738G>T ALPL substitution exon 1 ALPL_c.746G>T NM000478.3(ALPL):c.746G>T ALPL substitution exon 1 ALPL_c.791A>G NM000478.3(ALPL):c.791A>G ALPL substitution exon 1 ALPL_c.792G>A NM000478.3(ALPL):c.792G>A ALPL substitution exon 1 ALPL_c.797_802del NM000478.3(ALPL):c.797_802del ALPL deletion exon 1 ALPL_c.809G>A NM000478.3(ALPL):c.809G>A ALPL substitution exon 1 ALPL_c.814C>T NM000478.3(ALPL):c.814C>T ALPL substitution exon 1 ALPL_c.814delC NM000478.3(ALPL):c.814delC ALPL deletion exon 1 ALPL_c.815G>T NM000478.3(ALPL):c.815G>T ALPL substitution exon 1 ALPL_c.815G>A NM000478.3(ALPL):c.815G>A ALPL substitution exon 1 ALPL_c.824T>C NM000478.3(ALPL):c.824T>C ALPL substitution exon 1 ALPL_c.853_854insGATC NM000478.3(ALPL):c.853_854insGATC ALPL insertion exon 1 ALPL_c.862+5G>A NM000478.3(ALPL):c.862+5G>A ALPL substitution intron 1 ALPL_c.865C>T NM000478.3(ALPL):c.865C>T ALPL substitution exon 1 ALPL_c.871G>A NM000478.3(ALPL):c.871G>A ALPL substitution exon 1 ALPL_c.871G>T NM000478.3(ALPL):c.871G>T ALPL substitution exon 1 ALPL_c.871G>C NM000478.3(ALPL):c.871G>C ALPL substitution exon 1 ALPL_c.874C>A NM000478.3(ALPL):c.874C>A ALPL substitution exon 1 ALPL_c.876_881delAGGGGA NM000478.3(ALPL):c.876_881delAGGGGA ALPL deletion exon 1 ALPL_c.880G>T NM000478.3(ALPL):c.880G>T ALPL substitution exon 1 ALPL_c.881A>C NM000478.3(ALPL):c.881A>C ALPL substitution exon 1 ALPL_c.883A>G NM000478.3(ALPL):c.883A>G ALPL substitution exon 1 ALPL_c.884T>C NM000478.3(ALPL):c.884T>C ALPL substitution exon 1 ALPL_c.885G>A NM000478.3(ALPL):c.885G>A ALPL substitution exon 1 ALPL_c.886C>T NM000478.3(ALPL):c.886C>T ALPL substitution exon 1 ALPL_c.889T>G NM000478.3(ALPL):c.889T>G ALPL substitution exon 1 ALPL_c.889T>C NM000478.3(ALPL):c.889T>C ALPL substitution exon 1 ALPL_c.891C>A NM000478.3(ALPL):c.891C>A ALPL substitution exon 1 ALPL_c.892G>A NM000478.3(ALPL):c.892G>A ALPL substitution exon 1 ALPL_c.896T>C NM000478.3(ALPL):c.896T>C ALPL substitution exon 1 ALPL_c.917A>T NM000478.3(ALPL):c.917A>T ALPL substitution exon 1 ALPL_c.919C>T NM000478.3(ALPL):c.919C>T ALPL substitution exon 1 ALPL_c.920C>T NM000478.3(ALPL):c.920C>T ALPL substitution exon 1 ALPL_c.928_929delTC NM000478.3(ALPL):c.928_929delTC ALPL deletion exon 1 ALPL_c.931G>A NM000478.3(ALPL):c.931G>A ALPL substitution exon 1 ALPL_c.952C>T NM000478.3(ALPL):c.952C>T ALPL substitution exon 1 ALPL_c.963delG NM000478.3(ALPL):c.963delG ALPL deletion exon 1 ALPL_c.969C>G NM000478.3(ALPL):c.969C>G ALPL substitution exon 1 ALPL_c.976G>C NM000478.3(ALPL):c.976G>C ALPL substitution exon 1 ALPL_c.977G>T NM000478.3(ALPL):c.977G>T ALPL substitution exon 1 ALPL_c.984_986delCTT NM000478.3(ALPL):c.984_986delCTT ALPL deletion exon 1 ALPL_c.979T>G NM000478.3(ALPL):c.979T>G ALPL substitution exon 1 ALPL_c.979_980delinsGG NM000478.3(ALPL):c.979_980delinsGG ALPL complex exon 1 ALPL_c.979T>C NM000478.3(ALPL):c.979T>C ALPL substitution exon 1 ALPL_c.982T>C NM000478.3(ALPL):c.982T>C ALPL substitution exon 1 ALPL_c.997+1G>T NM000478.3(ALPL):c.997+1G>T ALPL substitution intron 1 ALPL_c.997+2T>A NM000478.3(ALPL):c.997+2T>A ALPL substitution intron 1 ALPL_c.997+2T>G NM000478.3(ALPL):c.997+2T>G ALPL substitution intron 1 ALPL_c.997+3A>C NM000478.3(ALPL):c.997+3A>C ALPL substitution intron 1 ALPL_c.997+3A>G NM000478.3(ALPL):c.997+3A>G ALPL substitution intron 1 ALPL_c.998-1G>T NM000478.3(ALPL):c.998-1G>T ALPL substitution intron 1 ALPL_c.1000G>C NM000478.3(ALPL):c.1000G>C ALPL substitution exon 1 ALPL_c.1001G>A NM000478.3(ALPL):c.1001G>A ALPL substitution exon 1 ALPL_c.1015G>A NM000478.3(ALPL):c.1015G>A ALPL substitution exon 1 ALPL_c.1015G>C NM000478.3(ALPL):c.1015G>C ALPL substitution exon 1 ALPL_c.1016G>A NM000478.3(ALPL):c.1016G>A ALPL substitution exon 1 ALPL_c.1042G>A NM000478.3(ALPL):c.1042G>A ALPL substitution exon 1 ALPL_c.1044_1055del12 NM000478.3(ALPL):c.1044_1055del12 ALPL deletion exon 1 ALPL_c.1062G>C NM000478.3(ALPL):c.1062G>C ALPL substitution exon 1 ALPL_c.1064T>C NM000478.3(ALPL):c.1064T>C ALPL substitution exon 1 ALPL_c.1065G>A NM000478.3(ALPL):c.1065G>A ALPL substitution exon 1 ALPL_c.1068C>A NM000478.3(ALPL):c.1068C>A ALPL substitution exon 1 ALPL_c.1101_1103delCTC NM000478.3(ALPL):c.1101_1103delCTC ALPL deletion exon 1 ALPL_c.1112C>T NM000478.3(ALPL):c.1112C>T ALPL substitution exon 1 ALPL_c.1120G>A NM000478.3(ALPL):c.1120G>A ALPL substitution exon 1 ALPL_c.1130C>T NM000478.3(ALPL):c.1130C>T ALPL substitution exon 1 ALPL_c.1132G>T NM000478.3(ALPL):c.1132G>T ALPL substitution exon 1 ALPL_c.1133A>T NM000478.3(ALPL):c.1133A>T ALPL substitution exon 1 ALPL_c.1142A>G NM000478.3(ALPL):c.1142A>G ALPL substitution exon 1 ALPL_c.1144G>A NM000478.3(ALPL):c.1144G>A ALPL substitution exon 1 ALPL_c.1162T>C NM000478.3(ALPL):c.1162T>C ALPL substitution exon 1 ALPL_c.1166C>T NM000478.3(ALPL):c.1166C>T ALPL substitution exon 1 ALPL_c.1171C>T NM000478.3(ALPL):c.1171C>T ALPL substitution exon 1 ALPL_c.1172G>A NM000478.3(ALPL):c.1172G>A ALPL substitution exon 1 ALPL_c.1171delC NM000478.3(ALPL):c.1171delC ALPL deletion exon 1 ALPL_c.1175G>C NM000478.3(ALPL):c.1175G>C ALPL substitution exon 1 ALPL_c.1181_1182delCT NM000478.3(ALPL):c.1181_1182delCT ALPL deletion exon 1 ALPL_c.1183A>G NM000478.3(ALPL):c.1183A>G ALPL substitution exon 1 ALPL_c.1184T>C NM000478.3(ALPL):c.1184T>C ALPL substitution exon 1 ALPL_c.1195G>T NM000478.3(ALPL):c.1195G>T ALPL substitution exon 1 ALPL_c.1196C>T NM000478.3(ALPL):c.1196C>T ALPL substitution exon 1 ALPL_c.1199C>T NM000478.3(ALPL):c.1199C>T ALPL substitution exon 1 ALPL_c.1214_1215delCA NM000478.3(ALPL):c.1214_1215delCA ALPL deletion exon 1 ALPL_c.1216_1219delGACA NM000478.3(ALPL):c.1216_1219delGACA ALPL deletion exon 1 ALPL_c.1216G>A NM000478.3(ALPL):c.1216G>A ALPL substitution exon 1 ALPL_c.1217A>G NM000478.3(ALPL):c.1217A>G ALPL substitution exon 1 ALPL_c.1228T>C NM000478.3(ALPL):c.1228T>C ALPL substitution exon 1 ALPL_c.1231A>G NM000478.3(ALPL):c.1231A>G ALPL substitution exon 1 ALPL_c.1240C>A NM000478.3(ALPL):c.1240C>A ALPL substitution exon 1 ALPL_c.1250A>G NM000478.3(ALPL):c.1250A>G ALPL substitution exon 1 ALPL_c.1256delC NM000478.3(ALPL):c.1256delC ALPL deletion exon 1 ALPL_c.1258G>A NM000478.3(ALPL):c.1258G>A ALPL substitution exon 1 ALPL_c.1259G>C NM000478.3(ALPL):c.1259G>C ALPL substitution exon 1 ALPL_c.1268T>C NM000478.3(ALPL):c.1268T>C ALPL substitution exon 1 ALPL_c.1270G>A NM000478.3(ALPL):c.1270G>A ALPL substitution exon 1 ALPL_c.1276G>T NM000478.3(ALPL):c.1276G>T ALPL substitution exon 1 ALPL_c.1276G>A NM000478.3(ALPL):c.1276G>A ALPL substitution exon 1 ALPL_c.1277G>A NM000478.3(ALPL):c.1277G>A ALPL substitution exon 1 ALPL_c.1282C>T NM000478.3(ALPL):c.1282C>T ALPL substitution exon 1 ALPL_c.1283G>C NM000478.3(ALPL):c.1283G>C ALPL substitution exon 1 ALPL_c.1283G>A NM000478.3(ALPL):c.1283G>A ALPL substitution exon 1 ALPL_c.1283G>T NM000478.3(ALPL):c.1283G>T ALPL substitution exon 1 ALPL_c.1285G>A NM000478.3(ALPL):c.1285G>A ALPL substitution exon 1 ALPL_c.1306T>C NM000478.3(ALPL):c.1306T>C ALPL substitution exon 1 ALPL_c.1313A>T NM000478.3(ALPL):c.1313A>T ALPL substitution exon 1 ALPL_c.1328C>T NM000478.3(ALPL):c.1328C>T ALPL substitution exon 1 ALPL_c.1333T>C NM000478.3(ALPL):c.1333T>C ALPL substitution exon 1 ALPL_c.1349G>A NM000478.3(ALPL):c.1349G>A ALPL substitution exon 1 ALPL_c.1348C>T NM000478.3(ALPL):c.1348C>T ALPL substitution exon 1 ALPL_c.1354G>A NM000478.3(ALPL):c.1354G>A ALPL substitution exon 1 ALPL_c.1361A>G NM000478.3(ALPL):c.1361A>G ALPL substitution exon 1 ALPL_c.1363G>A NM000478.3(ALPL):c.1363G>A ALPL substitution exon 1 ALPL_c.1364G>A NM000478.3(ALPL):c.1364G>A ALPL substitution exon 1 ALPL_c.1366G>T NM000478.3(ALPL):c.1366G>T ALPL substitution exon 1 ALPL_c.1366G>A NM000478.3(ALPL):c.1366G>A ALPL substitution exon 1 ALPL_c.1372G>A NM000478.3(ALPL):c.1372G>A ALPL substitution exon 1 ALPL_c.1373A>G NM000478.3(ALPL):c.1373A>G ALPL substitution exon 1 ALPL_c.1375G>A NM000478.3(ALPL):c.1375G>A ALPL substitution exon 1 ALPL_c.1375G>T NM000478.3(ALPL):c.1375G>T ALPL substitution exon 1 ALPL_c.1397C>T NM000478.3(ALPL):c.1397C>T ALPL substitution exon 1 ALPL_c.1400T>C NM000478.3(ALPL):c.1400T>C ALPL substitution exon 1 ALPL_c.1402G>A NM000478.3(ALPL):c.1402G>A ALPL substitution exon 1 ALPL_c.1412_1429del18 NM000478.3(ALPL):c.1412_1429del18 ALPL deletion exon 1 ALPL_c.1414C>T NM000478.3(ALPL):c.1414C>T ALPL substitution exon 1 ALPL_c.1417G>A NM000478.3(ALPL):c.1417G>A ALPL substitution exon 1 ALPL_c.1426G>A NM000478.3(ALPL):c.1426G>A ALPL substitution exon 1 ALPL_c.1427A>G NM000478.3(ALPL):c.1427A>G ALPL substitution exon 1 ALPL_c.1427A>C NM000478.3(ALPL):c.1427A>C ALPL substitution exon 1 ALPL_c.1433A>T NM000478.3(ALPL):c.1433A>T ALPL substitution exon 1 ALPL_c.1444_1445insC NM000478.3(ALPL):c.1444_1445insC ALPL insertion exon 1 ALPL_c.1466G>C NM000478.3(ALPL):c.1466G>C ALPL substitution exon 1 ALPL_c.1468A>T NM000478.3(ALPL):c.1468A>T ALPL substitution exon 1 ALPL_c.1471G>A NM000478.3(ALPL):c.1471G>A ALPL substitution exon 1 ALPL_c.1474delG NM000478.3(ALPL):c.1474delG ALPL deletion exon 1 ALPL_c.1553_1569del17 NM000478.3(ALPL):c.1553_1569del17 ALPL deletion exon 1 ALPL_c.1559delT NM000478.3(ALPL):c.1559delT ALPL deletion exon 1 ALOX5AP:NM_001629.2:c.323+154T>C NM_001629.2(ALOX5AP):c.323+154T>C GlobinLOVD substitution intron 1 ALOX5AP:NM_001629.2:c.323+3269T>C NM_001629.2(ALOX5AP):c.323+3269T>C GlobinLOVD substitution intron 1 ALOX5AP:NM_001629.2:c.324-3699A>G NM_001629.2(ALOX5AP):c.324-3699A>G GlobinLOVD substitution intron 1 AQP9:NM_020980.3:c.835A>G NM_020980.3(AQP9):c.835A>G GlobinLOVD substitution exon 1 ARG2:NM_001172.3:c.860-11T>C NM_001172.3(ARG2):c.860-11T>C GlobinLOVD substitution intron 1 ARG2:NM_001172.3:c.860-426C>A NM_001172.3(ARG2):c.860-426C>A GlobinLOVD substitution intron 1 ASS1:NM_000050.4:c.495+1473C>T NM_000050.4(ASS1):c.495+1473C>T GlobinLOVD substitution intron 1 ASS1:NM_000050.4:c.597+18A>G NM_000050.4(ASS1):c.597+18A>G GlobinLOVD substitution intron 1 ASS1:NM_000050.4:c.838+2190A>G NM_000050.4(ASS1):c.838+2190A>G GlobinLOVD substitution intron 1 ASS1:NM_000050.4:c.839-88A>T NM_000050.4(ASS1):c.839-88A>T GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.109C>T NM_000489.3(ATRX):c.109C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.1226T>C NM_000489.3(ATRX):c.1226T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.1725delA NM_000489.3(ATRX):c.1725delA GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.1727C>A NM_000489.3(ATRX):c.1727C>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.1727C>G NM_000489.3(ATRX):c.1727C>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.1748delC NM_000489.3(ATRX):c.1748delC GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.187G>T NM_000489.3(ATRX):c.187G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.20+1G>A NM_000489.3(ATRX):c.20+1G>A GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.236C>G NM_000489.3(ATRX):c.236C>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.242+2T>C NM_000489.3(ATRX):c.242+2T>C GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.370G>T NM_000489.3(ATRX):c.370G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.390_391insA NM_000489.3(ATRX):c.390_391insA GlobinLOVD insertion exon 1 ATRX:NM_000489.3:c.3944-2A>G NM_000489.3(ATRX):c.3944-2A>G GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.413_414delAA NM_000489.3(ATRX):c.413_414delAA GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.4317G>A NM_000489.3(ATRX):c.4317G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4613T>G NM_000489.3(ATRX):c.4613T>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4617_4622del NM_000489.3(ATRX):c.4617_4622del GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.4626_4631del NM_000489.3(ATRX):c.4626_4631del GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.4654G>T NM_000489.3(ATRX):c.4654G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4826A>G NM_000489.3(ATRX):c.4826A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4840T>C NM_000489.3(ATRX):c.4840T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4862C>T NM_000489.3(ATRX):c.4862C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4864G>A NM_000489.3(ATRX):c.4864G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4868T>C NM_000489.3(ATRX):c.4868T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4870G>A NM_000489.3(ATRX):c.4870G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4934T>C NM_000489.3(ATRX):c.4934T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.4950G>T NM_000489.3(ATRX):c.4950G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5039T>C NM_000489.3(ATRX):c.5039T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5075G>A NM_000489.3(ATRX):c.5075G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5120C>A NM_000489.3(ATRX):c.5120C>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5137C>T NM_000489.3(ATRX):c.5137C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5197A>G NM_000489.3(ATRX):c.5197A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.521G>A NM_000489.3(ATRX):c.521G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5225G>A NM_000489.3(ATRX):c.5225G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5237T>C NM_000489.3(ATRX):c.5237T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.524G>A NM_000489.3(ATRX):c.524G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5262C>A NM_000489.3(ATRX):c.5262C>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5273-10T>A NM_000489.3(ATRX):c.5273-10T>A GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.5273-5C>G NM_000489.3(ATRX):c.5273-5C>G GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.528_529insCAA NM_000489.3(ATRX):c.528_529insCAA GlobinLOVD insertion exon 1 ATRX:NM_000489.3:c.5328C>G NM_000489.3(ATRX):c.5328C>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.536A>G NM_000489.3(ATRX):c.536A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5498A>G NM_000489.3(ATRX):c.5498A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5540A>G NM_000489.3(ATRX):c.5540A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5567-3C>G NM_000489.3(ATRX):c.5567-3C>G GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.565C>G NM_000489.3(ATRX):c.565C>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.568C>G NM_000489.3(ATRX):c.568C>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.568C>T NM_000489.3(ATRX):c.568C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.569C>T NM_000489.3(ATRX):c.569C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5721G>A NM_000489.3(ATRX):c.5721G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.576G>C NM_000489.3(ATRX):c.576G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.580G>A NM_000489.3(ATRX):c.580G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.581T>C NM_000489.3(ATRX):c.581T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.590G>T NM_000489.3(ATRX):c.590G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.5957-2A>G NM_000489.3(ATRX):c.5957-2A>G GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.599G>C NM_000489.3(ATRX):c.599G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6003G>A NM_000489.3(ATRX):c.6003G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6083G>C NM_000489.3(ATRX):c.6083G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6104A>T NM_000489.3(ATRX):c.6104A>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6149T>C NM_000489.3(ATRX):c.6149T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6218-12574G>A NM_000489.3(ATRX):c.6218-12574G>A GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.6244G>C NM_000489.3(ATRX):c.6244G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6250T>C NM_000489.3(ATRX):c.6250T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6253C>A NM_000489.3(ATRX):c.6253C>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6253C>T NM_000489.3(ATRX):c.6253C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6327-6T>A NM_000489.3(ATRX):c.6327-6T>A GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.6392G>A NM_000489.3(ATRX):c.6392G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6406G>A NM_000489.3(ATRX):c.6406G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6488A>G NM_000489.3(ATRX):c.6488A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6508A>G NM_000489.3(ATRX):c.6508A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.656A>C NM_000489.3(ATRX):c.656A>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.658T>C NM_000489.3(ATRX):c.658T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.659G>A NM_000489.3(ATRX):c.659G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6620T>A NM_000489.3(ATRX):c.6620T>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.665G>C NM_000489.3(ATRX):c.665G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.666G>T NM_000489.3(ATRX):c.666G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.667T>C NM_000489.3(ATRX):c.667T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.668G>T NM_000489.3(ATRX):c.668G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6701A>G NM_000489.3(ATRX):c.6701A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6743T>C NM_000489.3(ATRX):c.6743T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.6811A>G NM_000489.3(ATRX):c.6811A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.687G>C NM_000489.3(ATRX):c.687G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.7014_7017del NM_000489.3(ATRX):c.7014_7017del GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.7049delT NM_000489.3(ATRX):c.7049delT GlobinLOVD deletion exon 1 ATRX:NM_000489.3:c.709A>G NM_000489.3(ATRX):c.709A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.712G>C NM_000489.3(ATRX):c.712G>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.7156C>T NM_000489.3(ATRX):c.7156C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.7162G>T NM_000489.3(ATRX):c.7162G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.717C>A NM_000489.3(ATRX):c.717C>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.717C>G NM_000489.3(ATRX):c.717C>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.718T>G NM_000489.3(ATRX):c.718T>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.719G>T NM_000489.3(ATRX):c.719G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.7201-2A>G NM_000489.3(ATRX):c.7201-2A>G GlobinLOVD substitution intron 1 ATRX:NM_000489.3:c.7219C>T NM_000489.3(ATRX):c.7219C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.727T>C NM_000489.3(ATRX):c.727T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.731T>A NM_000489.3(ATRX):c.731T>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.734T>C NM_000489.3(ATRX):c.734T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.736C>T NM_000489.3(ATRX):c.736C>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.737G>T NM_000489.3(ATRX):c.737G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.739A>G NM_000489.3(ATRX):c.739A>G GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.745G>T NM_000489.3(ATRX):c.745G>T GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.746G>A NM_000489.3(ATRX):c.746G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.787T>C NM_000489.3(ATRX):c.787T>C GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.794G>A NM_000489.3(ATRX):c.794G>A GlobinLOVD substitution exon 1 ATRX:NM_000489.3:c.797A>G NM_000489.3(ATRX):c.797A>G GlobinLOVD substitution exon 1 BCL11A:NM_022893.3:c.386-12629G>A NM_022893.3(BCL11A):c.386-12629G>A GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-17267T>C NM_022893.3(BCL11A):c.386-17267T>C GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-18893T>G NM_022893.3(BCL11A):c.386-18893T>G GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-22075A>C NM_022893.3(BCL11A):c.386-22075A>C GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-22379G>A NM_022893.3(BCL11A):c.386-22379G>A GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-24002G>T NM_022893.3(BCL11A):c.386-24002G>T GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-24278G>A NM_022893.3(BCL11A):c.386-24278G>A GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-24983T>C NM_022893.3(BCL11A):c.386-24983T>C GlobinLOVD substitution intron 1 BCL11A:NM_022893.3:c.386-25379C>T NM_022893.3(BCL11A):c.386-25379C>T GlobinLOVD substitution intron 1 CNTNAP2:NM_014141.4:c.98-274726T>G NM_014141.4(CNTNAP2):c.98-274726T>G GlobinLOVD substitution intron 1 CSNK2A1:NC_000020.10:g.489009C>T NC_000020.10(CSNK2A1):g.489009C>T GlobinLOVD substitution intron 1 ERCC2:NM_000400.3:c.1459C>G NM_000400.3(ERCC2):c.1459C>G GlobinLOVD substitution exon 1 ERCC2:NM_000400.3:c.1780G>C NM_000400.3(ERCC2):c.1780G>C GlobinLOVD substitution exon 1 ERCC2:NM_000400.3:c.1847G>C NM_000400.3(ERCC2):c.1847G>C GlobinLOVD substitution exon 1 ERCC2:NM_000400.3:c.1972C>G NM_000400.3(ERCC2):c.1972C>G GlobinLOVD substitution exon 1 ERCC2:NM_000400.3:c.2164C>T NM_000400.3(ERCC2):c.2164C>T GlobinLOVD substitution exon 1 ERCC2:NM_000400.3:c.335G>A NM_000400.3(ERCC2):c.335G>A GlobinLOVD substitution exon 1 FLT1:NM_002019.4:c.1436+3896C>T NM_002019.4(FLT1):c.1436+3896C>T GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.1437-4369G>A NM_002019.4(FLT1):c.1437-4369G>A GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.1437-7030T>C NM_002019.4(FLT1):c.1437-7030T>C GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.1551+3528G>A NM_002019.4(FLT1):c.1551+3528G>A GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.1552-2416C>T NM_002019.4(FLT1):c.1552-2416C>T GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.2116+67G>T NM_002019.4(FLT1):c.2116+67G>T GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.2356-2906A>G NM_002019.4(FLT1):c.2356-2906A>G GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.3175-535T>C NM_002019.4(FLT1):c.3175-535T>C GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.64+4948C>T NM_002019.4(FLT1):c.64+4948C>T GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.65-2598A>G NM_002019.4(FLT1):c.65-2598A>G GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.65-4098T>C NM_002019.4(FLT1):c.65-4098T>C GlobinLOVD substitution intron 1 FLT1:NM_002019.4:c.65-8030G>T NM_002019.4(FLT1):c.65-8030G>T GlobinLOVD substitution intron 1 GATA1:NM_002049.3:c.647G>A NM_002049.3(GATA1):c.647G>A GlobinLOVD substitution exon 1 GPM6B:NM_001001994.1:c.4+22593C>T NM_001001994.1(GPM6B):c.4+22593C>T GlobinLOVD substitution intron 1 GPM6B:NM_001001994.1:c.4+38793C>T NM_001001994.1(GPM6B):c.4+38793C>T GlobinLOVD substitution intron 1 GPM6B:NM_001001994.1:c.4+39672C>T NM_001001994.1(GPM6B):c.4+39672C>T GlobinLOVD substitution intron 1 GPM6B:NM_001001994.1:c.4+5771A>G NM_001001994.1(GPM6B):c.4+5771A>G GlobinLOVD substitution intron 1 GPM6B:NM_001001994.1:c.4+65279C>T NM_001001994.1(GPM6B):c.4+65279C>T GlobinLOVD substitution intron 1 GPM6B:NM_001001994.1:c.5-33G>A NM_001001994.1(GPM6B):c.5-33G>A GlobinLOVD substitution intron 1 GPM6B:NM_001001994.1:c.5-46858G>A NM_001001994.1(GPM6B):c.5-46858G>A GlobinLOVD substitution intron 1 HAO2:NM_001005783.1:c.-228-5024C>G NM_001005783.1(HAO2):c.-228-5024C>G GlobinLOVD substitution not within known transcription unit 1 HBS1L:NC_000006.11:g.135376209T>G NC_000006.11(HBS1L):g.135376209T>G GlobinLOVD substitution not within known transcription unit 1 HBS1L:NC_000006.11:g.135426573A>G NC_000006.11(HBS1L):g.135426573A>G GlobinLOVD substitution not within known transcription unit 1 HBS1L:NC_000006.11:g.135427144C>A NC_000006.11(HBS1L):g.135427144C>A GlobinLOVD substitution not within known transcription unit 1 HBS1L:NC_000006.11:g.135427159T>C NC_000006.11(HBS1L):g.135427159T>C GlobinLOVD substitution not within known transcription unit 1 HBS1L:NC_000006.11:g.135427817G>A NC_000006.11(HBS1L):g.135427817G>A GlobinLOVD substitution not within known transcription unit 1 HBS1L:NC_000006.11:g.135431640T>C NC_000006.11(HBS1L):g.135431640T>C GlobinLOVD substitution not within known transcription unit 1 HBS1L:NM_006620.3:c.-162C>T NM_006620.3(HBS1L):c.-162C>T GlobinLOVD substitution not within known transcription unit 1 HBS1L:NM_006620.3:c.130C>T NM_006620.3(HBS1L):c.130C>T GlobinLOVD substitution exon 1 HBS1L:NM_006620.3:c.163G>A NM_006620.3(HBS1L):c.163G>A GlobinLOVD substitution exon 1 HBS1L:NM_006620.3:c.194C>G NM_006620.3(HBS1L):c.194C>G GlobinLOVD substitution exon 1 HBS1L:NM_006620.3:c.2015C>A NM_006620.3(HBS1L):c.2015C>A GlobinLOVD substitution exon 1 HBS1L:NM_006620.3:c.39T>G NM_006620.3(HBS1L):c.39T>G GlobinLOVD substitution exon 1 KDR:NM_002253.2:c.1255+402G>A NM_002253.2(KDR):c.1255+402G>A GlobinLOVD substitution intron 1 KDR:NM_002253.2:c.2266+1263G>A NM_002253.2(KDR):c.2266+1263G>A GlobinLOVD substitution intron 1 KDR:NM_002253.2:c.2267-749T>C NM_002253.2(KDR):c.2267-749T>C GlobinLOVD substitution intron 1 KDR:NM_002253.2:c.889G>A NM_002253.2(KDR):c.889G>A GlobinLOVD substitution exon 1 KL:NM_004795.3:c.1109G>C NM_004795.3(KL):c.1109G>C GlobinLOVD substitution exon 1 KL:NM_004795.3:c.2247T>C NM_004795.3(KL):c.2247T>C GlobinLOVD substitution exon 1 KL:NM_004795.3:c.820-14772G>A NM_004795.3(KL):c.820-14772G>A GlobinLOVD substitution intron 1 KL:NM_004795.3:c.820-17193T>C NM_004795.3(KL):c.820-17193T>C GlobinLOVD substitution intron 1 KL:NM_004795.3:c.820-17753T>G NM_004795.3(KL):c.820-17753T>G GlobinLOVD substitution intron 1 KLF1:NC_000019.9:g.12998078T>C NC_000019.9(KLF1):g.12998078T>C GlobinLOVD substitution not within known transcription unit 1 KLF1:NC_000019.9:g.12998102G>A NC_000019.9(KLF1):g.12998102G>A GlobinLOVD substitution not within known transcription unit 1 KLF1:NM_006563.2:c.115A>C NM_006563.2(KLF1):c.115A>C GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.380T>A NM_006563.2(KLF1):c.380T>A GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.569delC NM_006563.2(KLF1):c.569delC GlobinLOVD deletion exon 1 KLF1:NM_006563.2:c.862A>T NM_006563.2(KLF1):c.862A>T GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.874A>T NM_006563.2(KLF1):c.874A>T GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.895C>T NM_006563.2(KLF1):c.895C>T GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.954dupG NM_006563.2(KLF1):c.954dupG GlobinLOVD duplication exon 1 KLF1:NM_006563.2:c.973G>A NM_006563.2(KLF1):c.973G>A GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.983G>A NM_006563.2(KLF1):c.983G>A GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.983G>T NM_006563.2(KLF1):c.983G>T GlobinLOVD substitution exon 1 KLF1:NM_006563.2:c.991C>G NM_006563.2(KLF1):c.991C>G GlobinLOVD substitution exon 1 KLF1:NM_006563.3:c.544T>C NM_006563.3(KLF1):c.544T>C GlobinLOVD substitution exon 1 KLF1:NM_006563.3:c.809C>A NM_006563.3(KLF1):c.809C>A GlobinLOVD substitution exon 1 KLF1:NM_006563.3:c.977T>G NM_006563.3(KLF1):c.977T>G GlobinLOVD substitution exon 1 KLF1:NM_006563.3:c.994A>C NM_006563.3(KLF1):c.994A>C GlobinLOVD substitution exon 1 MAP2K1:NM_002755.3:c.81-16471G>A NM_002755.3(MAP2K1):c.81-16471G>A GlobinLOVD substitution intron 1 MAP3K5:NM_005923.3:c.448+10483G>T NM_005923.3(MAP3K5):c.448+10483G>T GlobinLOVD substitution intron 1 MAP3K5:NM_005923.3:c.448+7448G>A NM_005923.3(MAP3K5):c.448+7448G>A GlobinLOVD substitution intron 1 MAP3K7:NM_145331.1:c.1210+316C>G NM_145331.1(MAP3K7):c.1210+316C>G GlobinLOVD substitution intron 1 MAP3K7:NM_145331.1:c.1211-983C>T NM_145331.1(MAP3K7):c.1211-983C>T GlobinLOVD substitution intron 1 MYB:NC_000006.11:g.135411228T>C NC_000006.11(MYB):g.135411228T>C GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135415208G>A NC_000006.11(MYB):g.135415208G>A GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135419018T>C NC_000006.11(MYB):g.135419018T>C GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135419688T>C NC_000006.11(MYB):g.135419688T>C GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135422296A>T NC_000006.11(MYB):g.135422296A>T GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135435501T>C NC_000006.11(MYB):g.135435501T>C GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135445448C>T NC_000006.11(MYB):g.135445448C>T GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135451564T>A NC_000006.11(MYB):g.135451564T>A GlobinLOVD substitution not within known transcription unit 1 MYB:NC_000006.11:g.135458071T>C NC_000006.11(MYB):g.135458071T>C GlobinLOVD substitution not within known transcription unit 1 MYB:NM_001130173.1:c.1886A>C NM_001130173.1(MYB):c.1886A>C GlobinLOVD substitution exon 1 MYB:NM_001130173.1:c.1892G>A NM_001130173.1(MYB):c.1892G>A GlobinLOVD substitution exon 1 MYB:NM_001130173.1:c.1991C>T NM_001130173.1(MYB):c.1991C>T GlobinLOVD substitution exon 1 NOS1:NM_000620.4:c.1383-1514G>T NM_000620.4(NOS1):c.1383-1514G>T GlobinLOVD substitution intron 1 NOS1:NM_000620.4:c.2531+161A>C NM_000620.4(NOS1):c.2531+161A>C GlobinLOVD substitution intron 1 NOS1:NM_000620.4:c.4289+720G>C NM_000620.4(NOS1):c.4289+720G>C GlobinLOVD substitution intron 1 NOS1:NM_000620.4:c.725+6610T>C NM_000620.4(NOS1):c.725+6610T>C GlobinLOVD substitution intron 1 NOS1:NM_000620.4:c.853-1043G>A NM_000620.4(NOS1):c.853-1043G>A GlobinLOVD substitution intron 1 NOS1:NM_000620.4:c.853-2109C>T NM_000620.4(NOS1):c.853-2109C>T GlobinLOVD substitution intron 1 NOS2:NM_000625.4:c.1155C>T NM_000625.4(NOS2):c.1155C>T GlobinLOVD substitution exon 1 NOS2:NM_000625.4:c.630+399G>A NM_000625.4(NOS2):c.630+399G>A GlobinLOVD substitution intron 1 NOS3:NM_000603.4:c.2113-408T>C NM_000603.4(NOS3):c.2113-408T>C GlobinLOVD substitution intron 1 NOS3:NM_000603.4:c.2685+113C>T NM_000603.4(NOS3):c.2685+113C>T GlobinLOVD substitution intron 1 NOS3:NM_000603.4:c.2984+228G>T NM_000603.4(NOS3):c.2984+228G>T GlobinLOVD substitution intron 1 NOX3:NM_015718.2:c.1308+1182T>C NM_015718.2(NOX3):c.1308+1182T>C GlobinLOVD substitution intron 1 NOX3:NM_015718.2:c.1308+3904G>A NM_015718.2(NOX3):c.1308+3904G>A GlobinLOVD substitution intron 1 NOX3:NM_015718.2:c.1308+4060A>C NM_015718.2(NOX3):c.1308+4060A>C GlobinLOVD substitution intron 1 NOX3:NM_015718.2:c.487-914C>A NM_015718.2(NOX3):c.487-914C>A GlobinLOVD substitution intron 1 PDE7B:NM_018945.3:c.804-607C>T NM_018945.3(PDE7B):c.804-607C>T GlobinLOVD substitution intron 1 PDE7B:NM_018945.3:c.83-70423A>C NM_018945.3(PDE7B):c.83-70423A>C GlobinLOVD substitution intron 1 PDE7B:NM_018945.3:c.83-76564C>T NM_018945.3(PDE7B):c.83-76564C>T GlobinLOVD substitution intron 1 PDE7B:NM_018945.3:c.949-537G>A NM_018945.3(PDE7B):c.949-537G>A GlobinLOVD substitution intron 1 SMAD3:NG_011990.1:c.206+47777G>A NG_011990.1(SMAD3):c.206+47777G>A GlobinLOVD substitution intron 1 SMAD3:NG_011990.1:c.206+6924A>G NG_011990.1(SMAD3):c.206+6924A>G GlobinLOVD substitution intron 1 SMAD6:NC_000015.9:g.67033151T>C NC_000015.9(SMAD6):g.67033151T>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.*1610G>A NG_011993.1(TOX):c.*1610G>A GlobinLOVD substitution not within known transcription unit 1 TOX:NG_011993.1:c.1005+4542G>C NG_011993.1(TOX):c.1005+4542G>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.1005+468C>T NG_011993.1(TOX):c.1005+468C>T GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.1006-3766A>T NG_011993.1(TOX):c.1006-3766A>T GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.102+73304T>C NG_011993.1(TOX):c.102+73304T>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.103-10760T>A NG_011993.1(TOX):c.103-10760T>A GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.103-13745A>T NG_011993.1(TOX):c.103-13745A>T GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.103-64549A>C NG_011993.1(TOX):c.103-64549A>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.103-65076C>T NG_011993.1(TOX):c.103-65076C>T GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.103-66615T>G NG_011993.1(TOX):c.103-66615T>G GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.103-74856G>A NG_011993.1(TOX):c.103-74856G>A GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.1392+2396T>G NG_011993.1(TOX):c.1392+2396T>G GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.168+325T>C NG_011993.1(TOX):c.168+325T>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.411+3031C>T NG_011993.1(TOX):c.411+3031C>T GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.411+5750A>C NG_011993.1(TOX):c.411+5750A>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.411+9191T>G NG_011993.1(TOX):c.411+9191T>G GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.412-25846C>G NG_011993.1(TOX):c.412-25846C>G GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.412-26539A>G NG_011993.1(TOX):c.412-26539A>G GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.693+2349A>G NG_011993.1(TOX):c.693+2349A>G GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.925-1429A>C NG_011993.1(TOX):c.925-1429A>C GlobinLOVD substitution intron 1 TOX:NG_011993.1:c.925-4761G>A NG_011993.1(TOX):c.925-4761G>A GlobinLOVD substitution intron 1 MMR_c.-42C>T NM_000249.2(MLH1):c.-42C>T MMR substitution not within known transcription unit 1 MMR_c.-28A>G NM_000249.2(MLH1):c.-28A>G MMR substitution not within known transcription unit 1 MMR_c.-28A>T NM_000249.2(MLH1):c.-28A>T MMR substitution not within known transcription unit 1 MMR_c.-7C>T NM_000249.2(MLH1):c.-7C>T MMR substitution not within known transcription unit 1 MMR_c.1-?_116+?del NM_000249.2(MLH1):c.1-?_116+?del MMR deletion not within known transcription unit 0 MMR_c.65G>C NM_000249.2(MLH1):c.65G>C MMR substitution exon 1 MMR_c.1-?_207+?del NM_000249.2(MLH1):c.1-?_207+?del MMR deletion not within known transcription unit 0 MMR_c.3G>A NM_000249.2(MLH1):c.3G>A MMR substitution exon 1 MMR_c.116G>A NM_000249.2(MLH1):c.116G>A MMR substitution exon 1 MMR_c.1-?_645+?dup NM_000249.2(MLH1):c.1-?_645+?dup MMR duplication not within known transcription unit 0 MMR_c.1-?_2271+?del NM_000249.2(MLH1):c.1-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.69A>T NM_000249.2(MLH1):c.69A>T MMR substitution exon 1 MMR_c.73A>T NM_000249.2(MLH1):c.73A>T MMR substitution exon 1 MMR_c.74T>C NM_000249.2(MLH1):c.74T>C MMR substitution exon 1 MMR_c.83C>T NM_000249.2(MLH1):c.83C>T MMR substitution exon 1 MMR_c.85G>T NM_000249.2(MLH1):c.85G>T MMR substitution exon 1 MMR_c.104T>G NM_000249.2(MLH1):c.104T>G MMR substitution exon 1 MMR_c.112A>G NM_000249.2(MLH1):c.112A>G MMR substitution exon 1 MMR_c.31delC NM_000249.2(MLH1):c.31delC MMR deletion exon 1 MMR_c.2T>G NM_000249.2(MLH1):c.2T>G MMR substitution exon 1 MMR_c.91_92delGCinsTG NM_000249.2(MLH1):c.91_92delGCinsTG MMR complex exon 1 MMR_c.1-?_116+?dup NM_000249.2(MLH1):c.1-?_116+?dup MMR duplication not within known transcription unit 0 MMR_complex_1 NM_000249.2(MLH1):c.[67G>A(+)70delG] MMR complex exon 1 MMR_c.1-?_884+?del NM_000249.2(MLH1):c.1-?_884+?del MMR deletion not within known transcription unit 0 MMR_c.2T>A NM_000249.2(MLH1):c.2T>A MMR substitution exon 1 MMR_c.44dupT NM_000249.2(MLH1):c.44dupT MMR duplication exon 1 MMR_c.76delC NM_000249.2(MLH1):c.76delC MMR deletion exon 1 MMR_c.109G>T NM_000249.2(MLH1):c.109G>T MMR substitution exon 1 MMR_c.1-?_1558+?del NM_000249.2(MLH1):c.1-?_1558+?del MMR deletion not within known transcription unit 0 MMR_c.19_35delGTTATTCGGCGGCTGGA NM_000249.2(MLH1):c.19_35delGTTATTCGGCGGCTGGA MMR deletion exon 1 MMR_c.381-415_453+733del NM_000249.2(MLH1):c.381-415_453+733del MMR deletion not within known transcription unit 1 MMR_c.37delG NM_000249.2(MLH1):c.37delG MMR deletion exon 1 MMR_c.67delG NM_000249.2(MLH1):c.67delG MMR deletion exon 1 MMR_c.67G>T NM_000249.2(MLH1):c.67G>T MMR substitution exon 1 MMR_c.1-?_306+?del NM_000249.2(MLH1):c.1-?_306+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_1731+?del NM_000249.2(MLH1):c.1-?_1731+?del MMR deletion not within known transcription unit 0 MMR_c.131C>T NM_000249.2(MLH1):c.131C>T MMR substitution exon 1 MMR_c.94A>G NM_000249.2(MLH1):c.94A>G MMR substitution exon 1 MMR_c.1-?_545+?del NM_000249.2(MLH1):c.1-?_545+?del MMR deletion not within known transcription unit 0 MMR_complex_2 NM_000249.2(MLH1):c.[1-?_1559+?del]+[1733A>G] MMR complex not within known transcription unit 0 MMR_c.9delC NM_000249.2(MLH1):c.9delC MMR deletion exon 1 MMR_c.18_34del17 NM_000249.2(MLH1):c.18_34del17 MMR deletion exon 1 MMR_c.38_39insCCCA NM_000249.2(MLH1):c.38_39insCCCA MMR insertion exon 1 MMR_c.52delC NM_000249.2(MLH1):c.52delC MMR deletion exon 1 MMR_c.55A>T NM_000249.2(MLH1):c.55A>T MMR substitution exon 1 MMR_c.61delG NM_000249.2(MLH1):c.61delG MMR deletion exon 1 MMR_c.62C>T NM_000249.2(MLH1):c.62C>T MMR substitution exon 1 MMR_c.73delA NM_000249.2(MLH1):c.73delA MMR deletion exon 1 MMR_c.76C>T NM_000249.2(MLH1):c.76C>T MMR substitution exon 1 MMR_c.86C>G NM_000249.2(MLH1):c.86C>G MMR substitution exon 1 MMR_c.101A>C NM_000249.2(MLH1):c.101A>C MMR substitution exon 1 MMR_c.104_105delTGinsAC NM_000249.2(MLH1):c.104_105delTGinsAC MMR complex exon 1 MMR_c.102_103delGA NM_000249.2(MLH1):c.102_103delGA MMR deletion exon 1 MMR_c.106_107insAA NM_000249.2(MLH1):c.106_107insAA MMR insertion exon 1 MMR_c.112A>C NM_000249.2(MLH1):c.112A>C MMR substitution exon 1 MMR_complex_3 NM_000249.2(MLH1):c.[104T>G(+)596_597delAG] MMR complex exon 1 MMR_complex_4 NM_000249.2(MLH1):c.[1-?_1731+?del;1853A>G] MMR complex not within known transcription unit 0 MMR_c.15_28del14 NM_000249.2(MLH1):c.15_28del14 MMR deletion exon 1 MMR_c.1-73960_2271+46597del177663 NM_000249.2(MLH1):c.1-73960_2271+46597del177663 MMR deletion not within known transcription unit 1 MMR_c.114C>G NM_000249.2(MLH1):c.114C>G MMR substitution exon 1 MMR_c.109G>A NM_000249.2(MLH1):c.109G>A MMR substitution exon 1 MMR_c.107T>A NM_000249.2(MLH1):c.107T>A MMR substitution exon 1 MMR_c.117-44_117-40delGAGTA NM_000249.2(MLH1):c.117-44_117-40delGAGTA MMR deletion intron 1 MMR_c.116+1G>A NM_000249.2(MLH1):c.116+1G>A MMR substitution intron 1 MMR_c.116+5G>C NM_000249.2(MLH1):c.116+5G>C MMR substitution intron 1 MMR_c.117-11T>A NM_000249.2(MLH1):c.117-11T>A MMR substitution intron 1 MMR_c.117-2A>T NM_000249.2(MLH1):c.117-2A>T MMR substitution intron 1 MMR_c.200G>A NM_000249.2(MLH1):c.200G>A MMR substitution exon 1 MMR_c.199G>T NM_000249.2(MLH1):c.199G>T MMR substitution exon 1 MMR_c.199G>A NM_000249.2(MLH1):c.199G>A MMR substitution exon 1 MMR_c.117-?_306+?dup NM_000249.2(MLH1):c.117-?_306+?dup MMR duplication not within known transcription unit 0 MMR_c.187G>A NM_000249.2(MLH1):c.187G>A MMR substitution exon 1 MMR_c.130T>G NM_000249.2(MLH1):c.130T>G MMR substitution exon 1 MMR_c.161G>A NM_000249.2(MLH1):c.161G>A MMR substitution exon 1 MMR_c.191A>G NM_000249.2(MLH1):c.191A>G MMR substitution exon 1 MMR_c.202A>G NM_000249.2(MLH1):c.202A>G MMR substitution exon 1 MMR_c.203T>A NM_000249.2(MLH1):c.203T>A MMR substitution exon 1 MMR_c.206G>A NM_000249.2(MLH1):c.206G>A MMR substitution exon 1 MMR_c.117-?_306+?del NM_000249.2(MLH1):c.117-?_306+?del MMR deletion not within known transcription unit 0 MMR_c.131_132insAATC NM_000249.2(MLH1):c.131_132insAATC MMR insertion exon 1 MMR_c.150dupT NM_000249.2(MLH1):c.150dupT MMR duplication exon 1 MMR_c.184C>T NM_000249.2(MLH1):c.184C>T MMR substitution exon 1 MMR_c.205delA NM_000249.2(MLH1):c.205delA MMR deletion exon 1 MMR_c.146T>A NM_000249.2(MLH1):c.146T>A MMR substitution exon 1 MMR_c.117-?_545+?del NM_000249.2(MLH1):c.117-?_545+?del MMR deletion not within known transcription unit 0 MMR_c.117-?_207+?del NM_000249.2(MLH1):c.117-?_207+?del MMR deletion not within known transcription unit 0 MMR_c.190_191delAA NM_000249.2(MLH1):c.190_191delAA MMR deletion exon 1 MMR_c.161delG NM_000249.2(MLH1):c.161delG MMR deletion exon 1 MMR_c.122A>G NM_000249.2(MLH1):c.122A>G MMR substitution exon 1 MMR_c.129delA NM_000249.2(MLH1):c.129delA MMR deletion exon 1 MMR_complex_5 NM_000249.2(MLH1):c.[131C>T(+)1321G>A] MMR substitution exon 1 MMR_complex_6 NM_000249.2(MLH1):c.[131C>T]+[1321G>A] MMR substitution exon 1 MMR_c.137G>T NM_000249.2(MLH1):c.137G>T MMR substitution exon 1 MMR_c.156dupA NM_000249.2(MLH1):c.156dupA MMR duplication exon 1 MMR_c.154A>T NM_000249.2(MLH1):c.154A>T MMR substitution exon 1 MMR_c.157G>T NM_000249.2(MLH1):c.157G>T MMR substitution exon 1 MMR_c.158A>C NM_000249.2(MLH1):c.158A>C MMR substitution exon 1 MMR_c.169A>T NM_000249.2(MLH1):c.169A>T MMR substitution exon 1 MMR_c.180G>A NM_000249.2(MLH1):c.180G>A MMR substitution exon 1 MMR_c.184C>A NM_000249.2(MLH1):c.184C>A MMR substitution exon 1 MMR_c.191dupA NM_000249.2(MLH1):c.191dupA MMR duplication exon 1 MMR_c.194G>A NM_000249.2(MLH1):c.194G>A MMR substitution exon 1 MMR_c.198C>T NM_000249.2(MLH1):c.198C>T MMR substitution exon 1 MMR_c.205A>G NM_000249.2(MLH1):c.205A>G MMR substitution exon 1 MMR_c.121G>C NM_000249.2(MLH1):c.121G>C MMR substitution exon 1 MMR_c.154_157delAAAG NM_000249.2(MLH1):c.154_157delAAAG MMR deletion exon 1 MMR_c.195delC NM_000249.2(MLH1):c.195delC MMR deletion exon 1 MMR_complex_7 NM_000249.2(MLH1):c.[137G>T(+)1151T>A] MMR substitution exon 1 MMR_c.207+571C>T NM_000249.2(MLH1):c.207+571C>T MMR substitution intron 1 MMR_c.208-2A>G NM_000249.2(MLH1):c.208-2A>G MMR substitution intron 1 MMR_c.208-1G>A NM_000249.2(MLH1):c.208-1G>A MMR substitution intron 1 MMR_c.207+1G>A NM_000249.2(MLH1):c.207+1G>A MMR substitution intron 1 MMR_c.207+1_207+2delGT NM_000249.2(MLH1):c.207+1_207+2delGT MMR deletion intron 1 MMR_c.208-3C>G NM_000249.2(MLH1):c.208-3C>G MMR substitution intron 1 MMR_c.208-2_209delAGAA NM_000249.2(MLH1):c.208-2_209delAGAA MMR deletion not within known transcription unit 1 MMR_c.207+2T>C NM_000249.2(MLH1):c.207+2T>C MMR substitution intron 1 MMR_c.207+1G>T NM_000249.2(MLH1):c.207+1G>T MMR substitution intron 1 MMR_c.211G>T NM_000249.2(MLH1):c.211G>T MMR substitution exon 1 MMR_c.298C>T NM_000249.2(MLH1):c.298C>T MMR substitution exon 1 MMR_c.208-?_453-?del NM_000249.2(MLH1):c.208-?_453-?del MMR deletion not within known transcription unit 0 MMR_c.210_213delAGAA NM_000249.2(MLH1):c.210_213delAGAA MMR deletion exon 1 MMR_c.230G>A NM_000249.2(MLH1):c.230G>A MMR substitution exon 1 MMR_c.210A>C NM_000249.2(MLH1):c.210A>C MMR substitution exon 1 MMR_c.213_215delAGA NM_000249.2(MLH1):c.213_215delAGA MMR deletion exon 1 MMR_c.216T>C NM_000249.2(MLH1):c.216T>C MMR substitution exon 1 MMR_c.211G>C NM_000249.2(MLH1):c.211G>C MMR substitution exon 1 MMR_c.208-?_677+?del NM_000249.2(MLH1):c.208-?_677+?del MMR deletion not within known transcription unit 0 MMR_c.211_213delGAA NM_000249.2(MLH1):c.211_213delGAA MMR deletion exon 1 MMR_c.229T>C NM_000249.2(MLH1):c.229T>C MMR substitution exon 1 MMR_c.238T>G NM_000249.2(MLH1):c.238T>G MMR substitution exon 1 MMR_c.250A>G NM_000249.2(MLH1):c.250A>G MMR substitution exon 1 MMR_c.277A>G NM_000249.2(MLH1):c.277A>G MMR substitution exon 1 MMR_c.208-?_545+?del NM_000249.2(MLH1):c.208-?_545+?del MMR deletion not within known transcription unit 0 MMR_c.307-?_453+?del NM_000249.2(MLH1):c.307-?_453+?del MMR deletion not within known transcription unit 0 MMR_c.256C>T NM_000249.2(MLH1):c.256C>T MMR substitution exon 1 MMR_c.304G>A NM_000249.2(MLH1):c.304G>A MMR substitution exon 1 MMR_c.208-?_306+?dup NM_000249.2(MLH1):c.208-?_306+?dup MMR duplication not within known transcription unit 0 MMR_c.245C>T NM_000249.2(MLH1):c.245C>T MMR substitution exon 1 MMR_c.299G>C NM_000249.2(MLH1):c.299G>C MMR substitution exon 1 MMR_c.306G>T NM_000249.2(MLH1):c.306G>T MMR substitution exon 1 MMR_c.208-?_306+?del NM_000249.2(MLH1):c.208-?_306+?del MMR deletion not within known transcription unit 0 MMR_c.231T>A NM_000249.2(MLH1):c.231T>A MMR substitution exon 1 MMR_c.242C>T NM_000249.2(MLH1):c.242C>T MMR substitution exon 1 MMR_c.231_232delTG NM_000249.2(MLH1):c.231_232delTG MMR deletion exon 1 MMR_c.253C>T NM_000249.2(MLH1):c.253C>T MMR substitution exon 1 MMR_c.261C>T NM_000249.2(MLH1):c.261C>T MMR substitution exon 1 MMR_c.265G>T NM_000249.2(MLH1):c.265G>T MMR substitution exon 1 MMR_c.272T>A NM_000249.2(MLH1):c.272T>A MMR substitution exon 1 MMR_c.274G>C NM_000249.2(MLH1):c.274G>C MMR substitution exon 1 MMR_c.283T>G NM_000249.2(MLH1):c.283T>G MMR substitution exon 1 MMR_c.291T>A NM_000249.2(MLH1):c.291T>A MMR substitution exon 1 MMR_c.293_304delGCTTTCGAGGTG NM_000249.2(MLH1):c.293_304delGCTTTCGAGGTG MMR deletion exon 1 MMR_c.292G>A NM_000249.2(MLH1):c.292G>A MMR substitution exon 1 MMR_c.301G>A NM_000249.2(MLH1):c.301G>A MMR substitution exon 1 MMR_c.302G>A NM_000249.2(MLH1):c.302G>A MMR substitution exon 1 MMR_c.307-1403A>T NM_000249.2(MLH1):c.307-1403A>T MMR substitution intron 1 MMR_c.292G>C NM_000249.2(MLH1):c.292G>C MMR substitution exon 1 MMR_c.261delC NM_000249.2(MLH1):c.261delC MMR deletion exon 1 MMR_c.244dupA NM_000249.2(MLH1):c.244dupA MMR duplication exon 1 MMR_c.297T>A NM_000249.2(MLH1):c.297T>A MMR substitution exon 1 MMR_c.303T>G NM_000249.2(MLH1):c.303T>G MMR substitution exon 1 MMR_c.306+3A>C NM_000249.2(MLH1):c.306+3A>C MMR substitution intron 1 MMR_c.306+416A>C NM_000249.2(MLH1):c.306+416A>C MMR substitution intron 1 MMR_c.307-19A>G NM_000249.2(MLH1):c.307-19A>G MMR substitution intron 1 MMR_c.307-2A>C NM_000249.2(MLH1):c.307-2A>C MMR substitution intron 1 MMR_c.307-29C>A NM_000249.2(MLH1):c.307-29C>A MMR substitution intron 1 MMR_c.306+4A>G NM_000249.2(MLH1):c.306+4A>G MMR substitution intron 1 MMR_c.306+1G>A NM_000249.2(MLH1):c.306+1G>A MMR substitution intron 1 MMR_c.306+5G>A NM_000249.2(MLH1):c.306+5G>A MMR substitution intron 1 MMR_c.307-1G>C NM_000249.2(MLH1):c.307-1G>C MMR substitution intron 1 MMR_c.306+40G>A NM_000249.2(MLH1):c.306+40G>A MMR substitution intron 1 MMR_c.306+2dupT NM_000249.2(MLH1):c.306+2dupT MMR duplication intron 1 MMR_c.341delC NM_000249.2(MLH1):c.341delC MMR deletion exon 1 MMR_c.320T>G NM_000249.2(MLH1):c.320T>G MMR substitution exon 1 MMR_c.350C>G NM_000249.2(MLH1):c.350C>G MMR substitution exon 1 MMR_c.350C>T NM_000249.2(MLH1):c.350C>T MMR substitution exon 1 MMR_c.307-?_380+?del NM_000249.2(MLH1):c.307-?_380+?del MMR deletion not within known transcription unit 0 MMR_c.356_357insAA NM_000249.2(MLH1):c.356_357insAA MMR insertion exon 1 MMR_c.380G>A NM_000249.2(MLH1):c.380G>A MMR substitution exon 1 MMR_c.318C>G NM_000249.2(MLH1):c.318C>G MMR substitution exon 1 MMR_c.338T>A NM_000249.2(MLH1):c.338T>A MMR substitution exon 1 MMR_c.375A>G NM_000249.2(MLH1):c.375A>G MMR substitution exon 1 MMR_c.307-?_545+?del NM_000249.2(MLH1):c.307-?_545+?del MMR deletion not within known transcription unit 0 MMR_c.347C>G NM_000249.2(MLH1):c.347C>G MMR substitution exon 1 MMR_c.307-?_380+?dup NM_000249.2(MLH1):c.307-?_380+?dup MMR duplication not within known transcription unit 0 MMR_c.378C>G NM_000249.2(MLH1):c.378C>G MMR substitution exon 1 MMR_c.332C>T NM_000249.2(MLH1):c.332C>T MMR substitution exon 1 MMR_c.646-?_1076+?dup NM_000249.2(MLH1):c.646-?_1076+?dup MMR duplication not within known transcription unit 0 MMR_c.307-?_1038+?del NM_000249.2(MLH1):c.307-?_1038+?del MMR deletion not within known transcription unit 0 MMR_c.307-?_2271+?del NM_000249.2(MLH1):c.307-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.311T>A NM_000249.2(MLH1):c.311T>A MMR substitution exon 1 MMR_c.327T>G NM_000249.2(MLH1):c.327T>G MMR substitution exon 1 MMR_c.346delA NM_000249.2(MLH1):c.346delA MMR deletion exon 1 MMR_complex_8 NM_000249.2(MLH1):c.[350C>T;790C>T] MMR substitution exon 1 MMR_c.354_355dupAA NM_000249.2(MLH1):c.354_355dupAA MMR duplication exon 1 MMR_c.367A>T NM_000249.2(MLH1):c.367A>T MMR substitution exon 1 MMR_c.378delC NM_000249.2(MLH1):c.378delC MMR deletion exon 1 MMR_c.347C>A NM_000249.2(MLH1):c.347C>A MMR substitution exon 1 MMR_c.376T>A NM_000249.2(MLH1):c.376T>A MMR substitution exon 1 MMR_c.346dupA NM_000249.2(MLH1):c.346dupA MMR duplication exon 1 MMR_c.359C>T NM_000249.2(MLH1):c.359C>T MMR substitution exon 1 MMR_c.377A>G NM_000249.2(MLH1):c.377A>G MMR substitution exon 1 MMR_c.307-797_677+1061del9557 NM_000249.2(MLH1):c.307-797_677+1061del9557 MMR deletion not within known transcription unit 1 MMR_c.380+2T>A NM_000249.2(MLH1):c.380+2T>A MMR substitution intron 1 MMR_c.380+2T>C NM_000249.2(MLH1):c.380+2T>C MMR substitution intron 1 MMR_c.381-2A>G NM_000249.2(MLH1):c.381-2A>G MMR substitution intron 1 MMR_c.381-1G>A NM_000249.2(MLH1):c.381-1G>A MMR substitution intron 1 MMR_c.397G>T NM_000249.2(MLH1):c.397G>T MMR substitution exon 1 MMR_c.381-41A>G NM_000249.2(MLH1):c.381-41A>G MMR substitution intron 1 MMR_c.380+1G>A NM_000249.2(MLH1):c.380+1G>A MMR substitution intron 1 MMR_c.436C>T NM_000249.2(MLH1):c.436C>T MMR substitution exon 1 MMR_c.382G>C NM_000249.2(MLH1):c.382G>C MMR substitution exon 1 MMR_c.385_386delAGinsGTT NM_000249.2(MLH1):c.385_386delAGinsGTT MMR complex exon 1 MMR_c.403C>G NM_000249.2(MLH1):c.403C>G MMR substitution exon 1 MMR_c.394G>C NM_000249.2(MLH1):c.394G>C MMR substitution exon 1 MMR_c.392C>A NM_000249.2(MLH1):c.392C>A MMR substitution exon 1 MMR_c.421C>G NM_000249.2(MLH1):c.421C>G MMR substitution exon 1 MMR_c.382delG NM_000249.2(MLH1):c.382delG MMR deletion exon 1 MMR_c.428dupC NM_000249.2(MLH1):c.428dupC MMR duplication exon 1 MMR_c.410C>T NM_000249.2(MLH1):c.410C>T MMR substitution exon 1 MMR_c.445C>T NM_000249.2(MLH1):c.445C>T MMR substitution exon 1 MMR_c.381-?_545+?del NM_000249.2(MLH1):c.381-?_545+?del MMR deletion not within known transcription unit 0 MMR_c.382_402delGCAAGTTACTCAGATGGAAAAinsT NM_000249.2(MLH1):c.382_402delGCAAGTTACTCAGATGGAAAAinsT MMR complex exon 1 MMR_c.439G>C NM_000249.2(MLH1):c.439G>C MMR substitution exon 1 MMR_c.447G>C NM_000249.2(MLH1):c.447G>C MMR substitution exon 1 MMR_c.453+554C>T NM_000249.2(MLH1):c.453+554C>T MMR substitution intron 1 MMR_c.454-1G>A NM_000249.2(MLH1):c.454-1G>A MMR substitution intron 1 MMR_c.454-13A>G NM_000249.2(MLH1):c.454-13A>G MMR substitution intron 1 MMR_c.453+1G>T NM_000249.2(MLH1):c.453+1G>T MMR substitution intron 1 MMR_c.453+79A>G NM_000249.2(MLH1):c.453+79A>G MMR substitution intron 1 MMR_c.453+2T>C NM_000249.2(MLH1):c.453+2T>C MMR substitution intron 1 MMR_c.454-51T>C NM_000249.2(MLH1):c.454-51T>C MMR substitution intron 1 MMR_c.454-1G>C NM_000249.2(MLH1):c.454-1G>C MMR substitution intron 1 MMR_c.454-1G>T NM_000249.2(MLH1):c.454-1G>T MMR substitution intron 1 MMR_c.453+9G>A NM_000249.2(MLH1):c.453+9G>A MMR substitution intron 1 MMR_c.454-2A>G NM_000249.2(MLH1):c.454-2A>G MMR substitution intron 1 MMR_c.503dupA NM_000249.2(MLH1):c.503dupA MMR duplication exon 1 MMR_c.513delA NM_000249.2(MLH1):c.513delA MMR deletion exon 1 MMR_c.464T>G NM_000249.2(MLH1):c.464T>G MMR substitution exon 1 MMR_c.531_532delinsCT NM_000249.2(MLH1):c.531_532delinsCT MMR complex exon 1 MMR_c.544A>G NM_000249.2(MLH1):c.544A>G MMR substitution exon 1 MMR_c.506C>T NM_000249.2(MLH1):c.506C>T MMR substitution exon 1 MMR_c.454-?_1409+?dup NM_000249.2(MLH1):c.454-?_1409+?dup MMR duplication not within known transcription unit 0 MMR_c.531_532delGGinsAT NM_000249.2(MLH1):c.531_532delGGinsAT MMR complex exon 1 MMR_c.472A>C NM_000249.2(MLH1):c.472A>C MMR substitution exon 1 MMR_c.454-?_677+?dup NM_000249.2(MLH1):c.454-?_677+?dup MMR duplication not within known transcription unit 0 MMR_c.479C>T NM_000249.2(MLH1):c.479C>T MMR substitution exon 1 MMR_c.454-?_545+?del NM_000249.2(MLH1):c.454-?_545+?del MMR deletion not within known transcription unit 0 MMR_c.469delT NM_000249.2(MLH1):c.469delT MMR deletion exon 1 MMR_c.523_524insAG NM_000249.2(MLH1):c.523_524insAG MMR insertion exon 1 MMR_c.539T>G NM_000249.2(MLH1):c.539T>G MMR substitution exon 1 MMR_c.454-432_545+1885del NM_000249.2(MLH1):c.454-432_545+1885del MMR deletion not within known transcription unit 1 MMR_complex_9 NM_000249.2(MLH1):c.[454-432_545+1885del]+[474C>T] MMR complex not within known transcription unit 1 MMR_c.474C>T NM_000249.2(MLH1):c.474C>T MMR substitution exon 1 MMR_c.655A>G NM_000249.2(MLH1):c.655A>G MMR substitution exon 1 MMR_c.488delG NM_000249.2(MLH1):c.488delG MMR deletion exon 1 MMR_c.497T>A NM_000249.2(MLH1):c.497T>A MMR substitution exon 1 MMR_c.502_503delAA NM_000249.2(MLH1):c.502_503delAA MMR deletion exon 1 MMR_c.498A>C NM_000249.2(MLH1):c.498A>C MMR substitution exon 1 MMR_c.468_469delTT NM_000249.2(MLH1):c.468_469delTT MMR deletion exon 1 MMR_c.546-2A>G NM_000249.2(MLH1):c.546-2A>G MMR substitution intron 1 MMR_c.546-2A>C NM_000249.2(MLH1):c.546-2A>C MMR substitution intron 1 MMR_c.545+3A>G NM_000249.2(MLH1):c.545+3A>G MMR substitution intron 1 MMR_c.545+43C>G NM_000249.2(MLH1):c.545+43C>G MMR substitution intron 1 MMR_c.546-32T>C NM_000249.2(MLH1):c.546-32T>C MMR substitution intron 1 MMR_c.545+72T>A NM_000249.2(MLH1):c.545+72T>A MMR substitution intron 1 MMR_c.545+80T>A NM_000249.2(MLH1):c.545+80T>A MMR substitution intron 1 MMR_c.545+1G>A NM_000249.2(MLH1):c.545+1G>A MMR substitution intron 1 MMR_c.578C>G NM_000249.2(MLH1):c.578C>G MMR substitution exon 1 MMR_c.546-?_884+?del NM_000249.2(MLH1):c.546-?_884+?del MMR deletion not within known transcription unit 0 MMR_c.554T>G NM_000249.2(MLH1):c.554T>G MMR substitution exon 1 MMR_c.546-?_790+?del NM_000249.2(MLH1):c.546-?_790+?del MMR deletion not within known transcription unit 0 MMR_c.546-?_677+?del NM_000249.2(MLH1):c.546-?_677+?del MMR deletion not within known transcription unit 0 MMR_c.1077-?_1276+?dup NM_000249.2(MLH1):c.1077-?_1276+?dup MMR duplication not within known transcription unit 0 MMR_c.1077-?_1386+?dup NM_000249.2(MLH1):c.1077-?_1386+?dup MMR duplication not within known transcription unit 0 MMR_c.577T>C NM_000249.2(MLH1):c.577T>C MMR substitution exon 1 MMR_c.545-?_1409+?dup NM_000249.2(MLH1):c.545-?_1409+?dup MMR duplication not within known transcription unit 0 MMR_c.553G>C NM_000249.2(MLH1):c.553G>C MMR substitution exon 1 MMR_c.558C>T NM_000249.2(MLH1):c.558C>T MMR substitution exon 1 MMR_c.586A>T NM_000249.2(MLH1):c.586A>T MMR substitution exon 1 MMR_c.588dupA NM_000249.2(MLH1):c.588dupA MMR duplication exon 1 MMR_c.588delA NM_000249.2(MLH1):c.588delA MMR deletion exon 1 MMR_c.572G>T NM_000249.2(MLH1):c.572G>T MMR substitution exon 1 MMR_c.589-2A>G NM_000249.2(MLH1):c.589-2A>G MMR substitution intron 1 MMR_c.588+5G>C NM_000249.2(MLH1):c.588+5G>C MMR substitution intron 1 MMR_c.588+3_588+6delAAGT NM_000249.2(MLH1):c.588+3_588+6delAAGT MMR deletion intron 1 MMR_c.589-10T>A NM_000249.2(MLH1):c.589-10T>A MMR substitution intron 1 MMR_c.588+5G>A NM_000249.2(MLH1):c.588+5G>A MMR substitution intron 1 MMR_complex_10 NM_000249.2(MLH1):c.[588+11G>C(+)790+5G>T] MMR substitution intron 1 MMR_c.589-15C>T NM_000249.2(MLH1):c.589-15C>T MMR substitution intron 1 MMR_c.589-7_589-10delTGTT NM_000249.2(MLH1):c.589-7_589-10delTGTT MMR deletion intron 1 MMR_c.588+1G>T NM_000249.2(MLH1):c.588+1G>T MMR substitution intron 1 MMR_c.589-5_589-8delTTTA NM_000249.2(MLH1):c.589-5_589-8delTTTA MMR deletion intron 1 MMR_c.588+1delG NM_000249.2(MLH1):c.588+1delG MMR deletion intron 1 MMR_c.676C>T NM_000249.2(MLH1):c.676C>T MMR substitution exon 1 MMR_c.637G>A NM_000249.2(MLH1):c.637G>A MMR substitution exon 1 MMR_c.649C>T NM_000249.2(MLH1):c.649C>T MMR substitution exon 1 MMR_c.655A>C NM_000249.2(MLH1):c.655A>C MMR substitution exon 1 MMR_c.677G>A NM_000249.2(MLH1):c.677G>A MMR substitution exon 1 MMR_c.677G>T NM_000249.2(MLH1):c.677G>T MMR substitution exon 1 MMR_c.674delG NM_000249.2(MLH1):c.674delG MMR deletion exon 1 MMR_c.454-?_677+?del NM_000249.2(MLH1):c.454-?_677+?del MMR deletion not within known transcription unit 0 MMR_c.637G>T NM_000249.2(MLH1):c.637G>T MMR substitution exon 1 MMR_c.665dupA NM_000249.2(MLH1):c.665dupA MMR duplication exon 1 MMR_c.595G>C NM_000249.2(MLH1):c.595G>C MMR substitution exon 1 MMR_c.597_598delGA NM_000249.2(MLH1):c.597_598delGA MMR deletion exon 1 MMR_c.607G>A NM_000249.2(MLH1):c.607G>A MMR substitution exon 1 MMR_c.632_633insT NM_000249.2(MLH1):c.632_633insT MMR insertion exon 1 MMR_c.649delC NM_000249.2(MLH1):c.649delC MMR deletion exon 1 MMR_c.665delA NM_000249.2(MLH1):c.665delA MMR deletion exon 1 MMR_c.673_676delAGTC NM_000249.2(MLH1):c.673_676delAGTC MMR deletion exon 1 MMR_c.644A>G NM_000249.2(MLH1):c.644A>G MMR substitution exon 1 MMR_c.647T>G NM_000249.2(MLH1):c.647T>G MMR substitution exon 1 MMR_complex_11 NM_000249.2(MLH1):c.[655A>G(+)677G>A] MMR substitution exon 1 MMR_c.596_597delAG NM_000249.2(MLH1):c.596_597delAG MMR deletion exon 1 MMR_complex_12 NM_000249.2(MLH1):c.[655A>G;884+4A>G] MMR substitution not within known transcription unit 1 MMR_complex_13 NM_000249.2(MLH1):c.[655A>G(+)676C>T(+)2146G>A] MMR substitution exon 1 MMR_c.677+1G>T NM_000249.2(MLH1):c.677+1G>T MMR substitution intron 1 MMR_c.677+1G>A NM_000249.2(MLH1):c.677+1G>A MMR substitution intron 1 MMR_c.677+1delG NM_000249.2(MLH1):c.677+1delG MMR deletion intron 1 MMR_c.677+3A>C NM_000249.2(MLH1):c.677+3A>C MMR substitution intron 1 MMR_c.677+3A>G NM_000249.2(MLH1):c.677+3A>G MMR substitution intron 1 MMR_c.677+4dupT NM_000249.2(MLH1):c.677+4dupT MMR duplication intron 1 MMR_c.677+16delA NM_000249.2(MLH1):c.677+16delA MMR deletion intron 1 MMR_c.678-3_678-2delTA NM_000249.2(MLH1):c.678-3_678-2delTA MMR deletion intron 1 MMR_c.678-1G>C NM_000249.2(MLH1):c.678-1G>C MMR substitution intron 1 MMR_c.678-1G>T NM_000249.2(MLH1):c.678-1G>T MMR substitution intron 1 MMR_c.678-3T>A NM_000249.2(MLH1):c.678-3T>A MMR substitution intron 1 MMR_c.790+4A>G NM_000249.2(MLH1):c.790+4A>G MMR substitution intron 1 MMR_c.731G>A NM_000249.2(MLH1):c.731G>A MMR substitution exon 1 MMR_c.739T>C NM_000249.2(MLH1):c.739T>C MMR substitution exon 1 MMR_c.727_730delAATG NM_000249.2(MLH1):c.727_730delAATG MMR deletion exon 1 MMR_c.678-?_1558-?del NM_000249.2(MLH1):c.678-?_1558-?del MMR deletion not within known transcription unit 0 MMR_c.1387-?_1661+?dup NM_000249.2(MLH1):c.1387-?_1661+?dup MMR duplication not within known transcription unit 0 MMR_c.678-?_884+?del NM_000249.2(MLH1):c.678-?_884+?del MMR deletion not within known transcription unit 0 MMR_c.731G>T NM_000249.2(MLH1):c.731G>T MMR substitution exon 1 MMR_c.755C>A NM_000249.2(MLH1):c.755C>A MMR substitution exon 1 MMR_c.769delA NM_000249.2(MLH1):c.769delA MMR deletion exon 1 MMR_c.683dupT NM_000249.2(MLH1):c.683dupT MMR duplication exon 1 MMR_c.693T>C NM_000249.2(MLH1):c.693T>C MMR substitution exon 1 MMR_c.693delT NM_000249.2(MLH1):c.693delT MMR deletion exon 1 MMR_c.697T>C NM_000249.2(MLH1):c.697T>C MMR substitution exon 1 MMR_c.701A>G NM_000249.2(MLH1):c.701A>G MMR substitution exon 1 MMR_c.702G>A NM_000249.2(MLH1):c.702G>A MMR substitution exon 1 MMR_c.717C>A NM_000249.2(MLH1):c.717C>A MMR substitution exon 1 MMR_c.745dupG NM_000249.2(MLH1):c.745dupG MMR duplication exon 1 MMR_c.765G>A NM_000249.2(MLH1):c.765G>A MMR substitution exon 1 MMR_c.776T>C NM_000249.2(MLH1):c.776T>C MMR substitution exon 1 MMR_c.778C>T NM_000249.2(MLH1):c.778C>T MMR substitution exon 1 MMR_c.779T>G NM_000249.2(MLH1):c.779T>G MMR substitution exon 1 MMR_c.784_786delATC NM_000249.2(MLH1):c.784_786delATC MMR deletion exon 1 MMR_c.753C>T NM_000249.2(MLH1):c.753C>T MMR substitution exon 1 MMR_c.791-5T>G NM_000249.2(MLH1):c.791-5T>G MMR substitution intron 1 MMR_c.790+10A>G NM_000249.2(MLH1):c.790+10A>G MMR substitution intron 1 MMR_c.791-1406C>T NM_000249.2(MLH1):c.791-1406C>T MMR substitution intron 1 MMR_c.790+1G>A NM_000249.2(MLH1):c.790+1G>A MMR substitution intron 1 MMR_c.790+2T>A NM_000249.2(MLH1):c.790+2T>A MMR substitution intron 1 MMR_c.790+955C>A NM_000249.2(MLH1):c.790+955C>A MMR substitution intron 1 MMR_c.790+1G>C NM_000249.2(MLH1):c.790+1G>C MMR substitution intron 1 MMR_c.790+2dupT NM_000249.2(MLH1):c.790+2dupT MMR duplication intron 1 MMR_c.790+2T>C NM_000249.2(MLH1):c.790+2T>C MMR substitution intron 1 MMR_c.790+3A>T NM_000249.2(MLH1):c.790+3A>T MMR substitution intron 1 MMR_c.791-34G>A NM_000249.2(MLH1):c.791-34G>A MMR substitution intron 1 MMR_c.791-2A>G NM_000249.2(MLH1):c.791-2A>G MMR substitution intron 1 MMR_c.791-1G>C NM_000249.2(MLH1):c.791-1G>C MMR substitution intron 1 MMR_c.791-1G>T NM_000249.2(MLH1):c.791-1G>T MMR substitution intron 1 MMR_c.790+62G>A NM_000249.2(MLH1):c.790+62G>A MMR substitution intron 1 MMR_c.791-23delG NM_000249.2(MLH1):c.791-23delG MMR deletion intron 1 MMR_c.790+1delG NM_000249.2(MLH1):c.790+1delG MMR deletion intron 1 MMR_c.790+2_+3insT NM_000249.2(MLH1):c.790+2_+3insT MMR insertion intron 1 MMR_c.791_794delATCG NM_000249.2(MLH1):c.791_794delATCG MMR deletion exon 1 MMR_c.821_824dupAAGC NM_000249.2(MLH1):c.821_824dupAAGC MMR duplication exon 1 MMR_c.840T>A NM_000249.2(MLH1):c.840T>A MMR substitution exon 1 MMR_c.794G>A NM_000249.2(MLH1):c.794G>A MMR substitution exon 1 MMR_c.883A>G NM_000249.2(MLH1):c.883A>G MMR substitution exon 1 MMR_c.793C>T NM_000249.2(MLH1):c.793C>T MMR substitution exon 1 MMR_c.851T>A NM_000249.2(MLH1):c.851T>A MMR substitution exon 1 MMR_c.872delT NM_000249.2(MLH1):c.872delT MMR deletion exon 1 MMR_c.861C>T NM_000249.2(MLH1):c.861C>T MMR substitution exon 1 MMR_c.860dupA NM_000249.2(MLH1):c.860dupA MMR duplication exon 1 MMR_c.791-?_1558+?del NM_000249.2(MLH1):c.791-?_1558+?del MMR deletion not within known transcription unit 0 MMR_c.791-?_884+?del NM_000249.2(MLH1):c.791-?_884+?del MMR deletion not within known transcription unit 0 MMR_c.883_884+2delAGGT NM_000249.2(MLH1):c.883_884+2delAGGT MMR deletion not within known transcription unit 1 MMR_c.883A>C NM_000249.2(MLH1):c.883A>C MMR substitution exon 1 MMR_c.882C>T NM_000249.2(MLH1):c.882C>T MMR substitution exon 1 MMR_c.859_860delAA NM_000249.2(MLH1):c.859_860delAA MMR deletion exon 1 MMR_c.875T>C NM_000249.2(MLH1):c.875T>C MMR substitution exon 1 MMR_c.1038G>C NM_000249.2(MLH1):c.1038G>C MMR substitution exon 1 MMR_c.793C>A NM_000249.2(MLH1):c.793C>A MMR substitution exon 1 MMR_c.842C>T NM_000249.2(MLH1):c.842C>T MMR substitution exon 1 MMR_c.791A>G NM_000249.2(MLH1):c.791A>G MMR substitution exon 1 MMR_c.803A>G NM_000249.2(MLH1):c.803A>G MMR substitution exon 1 MMR_c.814T>G NM_000249.2(MLH1):c.814T>G MMR substitution exon 1 MMR_c.856A>C NM_000249.2(MLH1):c.856A>C MMR substitution exon 1 MMR_c.806C>G NM_000249.2(MLH1):c.806C>G MMR substitution exon 1 MMR_c.808_811delACTT NM_000249.2(MLH1):c.808_811delACTT MMR deletion exon 1 MMR_c.815T>C NM_000249.2(MLH1):c.815T>C MMR substitution exon 1 MMR_c.845C>G NM_000249.2(MLH1):c.845C>G MMR substitution exon 1 MMR_c.855C>T NM_000249.2(MLH1):c.855C>T MMR substitution exon 1 MMR_c.856_857insT NM_000249.2(MLH1):c.856_857insT MMR insertion exon 1 MMR_c.884G>A NM_000249.2(MLH1):c.884G>A MMR substitution exon 1 MMR_c.884G>C NM_000249.2(MLH1):c.884G>C MMR substitution exon 1 MMR_complex_14 NM_000249.2(MLH1):c.[794G>A(+)1989G>T] MMR substitution exon 1 MMR_c.884+4A>G NM_000249.2(MLH1):c.884+4A>G MMR substitution intron 1 MMR_c.885-24T>A NM_000249.2(MLH1):c.885-24T>A MMR substitution intron 1 MMR_c.885-5G>T NM_000249.2(MLH1):c.885-5G>T MMR substitution intron 1 MMR_c.884+3A>G NM_000249.2(MLH1):c.884+3A>G MMR substitution intron 1 MMR_c.885-16_885-15delCT NM_000249.2(MLH1):c.885-16_885-15delCT MMR deletion intron 1 MMR_c.885-2A>G NM_000249.2(MLH1):c.885-2A>G MMR substitution intron 1 MMR_c.884+2T>C NM_000249.2(MLH1):c.884+2T>C MMR substitution intron 1 MMR_c.1023delG NM_000249.2(MLH1):c.1023delG MMR deletion exon 1 MMR_c.954delC NM_000249.2(MLH1):c.954delC MMR deletion exon 1 MMR_c.977T>C NM_000249.2(MLH1):c.977T>C MMR substitution exon 1 MMR_c.986A>C NM_000249.2(MLH1):c.986A>C MMR substitution exon 1 MMR_c.988_990delATC NM_000249.2(MLH1):c.988_990delATC MMR deletion exon 1 MMR_c.885-?_1731+?del NM_000249.2(MLH1):c.885-?_1731+?del MMR deletion not within known transcription unit 0 MMR_c.987_989delCAT NM_000249.2(MLH1):c.987_989delCAT MMR deletion exon 1 MMR_c.927C>T NM_000249.2(MLH1):c.927C>T MMR substitution exon 1 MMR_c.1017delC NM_000249.2(MLH1):c.1017delC MMR deletion exon 1 MMR_c.885-?_1038+?del NM_000249.2(MLH1):c.885-?_1038+?del MMR deletion not within known transcription unit 0 MMR_c.1662-?_1759+?dup NM_000249.2(MLH1):c.1662-?_1759+?dup MMR duplication not within known transcription unit 0 MMR_c.911A>T NM_000249.2(MLH1):c.911A>T MMR substitution exon 1 MMR_c.885-597_1338+1120del NM_000249.2(MLH1):c.885-597_1338+1120del MMR deletion not within known transcription unit 1 MMR_c.885-?_2271+?del NM_000249.2(MLH1):c.885-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.887T>G NM_000249.2(MLH1):c.887T>G MMR substitution exon 1 MMR_c.887dupT NM_000249.2(MLH1):c.887dupT MMR duplication exon 1 MMR_c.888_889insTCCTGACAGTTT NM_000249.2(MLH1):c.888_889insTCCTGACAGTTT MMR insertion exon 1 MMR_c.889G>T NM_000249.2(MLH1):c.889G>T MMR substitution exon 1 MMR_c.901C>T NM_000249.2(MLH1):c.901C>T MMR substitution exon 1 MMR_c.921_922dupGC NM_000249.2(MLH1):c.921_922dupGC MMR duplication exon 1 MMR_c.935dupA NM_000249.2(MLH1):c.935dupA MMR duplication exon 1 MMR_c.939dupA NM_000249.2(MLH1):c.939dupA MMR duplication exon 1 MMR_c.955G>T NM_000249.2(MLH1):c.955G>T MMR substitution exon 1 MMR_c.962G>T NM_000249.2(MLH1):c.962G>T MMR substitution exon 1 MMR_c.971_979delAGCGGGTGC NM_000249.2(MLH1):c.971_979delAGCGGGTGC MMR deletion exon 1 MMR_c.974G>A NM_000249.2(MLH1):c.974G>A MMR substitution exon 1 MMR_c.994delA NM_000249.2(MLH1):c.994delA MMR deletion exon 1 MMR_c.1007delG NM_000249.2(MLH1):c.1007delG MMR deletion exon 1 MMR_c.1011delC NM_000249.2(MLH1):c.1011delC MMR deletion exon 1 MMR_c.1011dupC NM_000249.2(MLH1):c.1011dupC MMR duplication exon 1 MMR_c.1013A>G NM_000249.2(MLH1):c.1013A>G MMR substitution exon 1 MMR_c.1037A>G NM_000249.2(MLH1):c.1037A>G MMR substitution exon 1 MMR_c.1038G>A NM_000249.2(MLH1):c.1038G>A MMR substitution exon 1 MMR_c.925C>T NM_000249.2(MLH1):c.925C>T MMR substitution exon 1 MMR_c.888delA NM_000249.2(MLH1):c.888delA MMR deletion exon 1 MMR_c.985C>A NM_000249.2(MLH1):c.985C>A MMR substitution exon 1 MMR_c.960G>C NM_000249.2(MLH1):c.960G>C MMR substitution exon 1 MMR_c.1003C>T NM_000249.2(MLH1):c.1003C>T MMR substitution exon 1 MMR_c.1038G>T NM_000249.2(MLH1):c.1038G>T MMR substitution exon 1 MMR_c.908T>A NM_000249.2(MLH1):c.908T>A MMR substitution exon 1 MMR_c.949C>A NM_000249.2(MLH1):c.949C>A MMR substitution exon 1 MMR_c.955G>A NM_000249.2(MLH1):c.955G>A MMR substitution exon 1 MMR_c.1039-2A>T NM_000249.2(MLH1):c.1039-2A>T MMR substitution intron 1 MMR_c.1038+86T>C NM_000249.2(MLH1):c.1038+86T>C MMR substitution intron 1 MMR_c.1039-78A>G NM_000249.2(MLH1):c.1039-78A>G MMR substitution intron 1 MMR_c.1038+1G>C NM_000249.2(MLH1):c.1038+1G>C MMR substitution intron 1 MMR_c.1559-3171A>G NM_000249.2(MLH1):c.1559-3171A>G MMR substitution intron 1 MMR_c.1038+9G>A NM_000249.2(MLH1):c.1038+9G>A MMR substitution intron 1 MMR_c.1038+19C>T NM_000249.2(MLH1):c.1038+19C>T MMR substitution intron 1 MMR_c.1038+51C>T NM_000249.2(MLH1):c.1038+51C>T MMR substitution intron 1 MMR_c.1039-1G>A NM_000249.2(MLH1):c.1039-1G>A MMR substitution intron 1 MMR_c.1039-1G>C NM_000249.2(MLH1):c.1039-1G>C MMR substitution intron 1 MMR_c.1039-2A>G NM_000249.2(MLH1):c.1039-2A>G MMR substitution intron 1 MMR_c.1068_1075delTGGGGAGA NM_000249.2(MLH1):c.1068_1075delTGGGGAGA MMR deletion exon 1 MMR_c.1310delC NM_000249.2(MLH1):c.1310delC MMR deletion exon 1 MMR_c.1217G>A NM_000249.2(MLH1):c.1217G>A MMR substitution exon 1 MMR_c.1327A>C NM_000249.2(MLH1):c.1327A>C MMR substitution exon 1 MMR_c.1343delA NM_000249.2(MLH1):c.1343delA MMR deletion exon 1 MMR_c.1151T>A NM_000249.2(MLH1):c.1151T>A MMR substitution exon 1 MMR_c.1039-?_1409+?del NM_000249.2(MLH1):c.1039-?_1409+?del MMR deletion not within known transcription unit 0 MMR_c.1039-?_1558+?del NM_000249.2(MLH1):c.1039-?_1558+?del MMR deletion not within known transcription unit 0 MMR_c.1190delT NM_000249.2(MLH1):c.1190delT MMR deletion exon 1 MMR_c.1141C>T NM_000249.2(MLH1):c.1141C>T MMR substitution exon 1 MMR_c.1058C>T NM_000249.2(MLH1):c.1058C>T MMR substitution exon 1 MMR_c.1354delA NM_000249.2(MLH1):c.1354delA MMR deletion exon 1 MMR_c.1334delA NM_000249.2(MLH1):c.1334delA MMR deletion exon 1 MMR_c.1252_1253delGA NM_000249.2(MLH1):c.1252_1253delGA MMR deletion exon 1 MMR_c.1321G>A NM_000249.2(MLH1):c.1321G>A MMR substitution exon 1 MMR_c.1392T>C NM_000249.2(MLH1):c.1392T>C MMR substitution exon 1 MMR_c.1360G>C NM_000249.2(MLH1):c.1360G>C MMR substitution exon 1 MMR_c.1347_1368del22insTAAA NM_000249.2(MLH1):c.1347_1368del22insTAAA MMR complex exon 1 MMR_c.1210_1211delCT NM_000249.2(MLH1):c.1210_1211delCT MMR deletion exon 1 MMR_c.1150delG NM_000249.2(MLH1):c.1150delG MMR deletion exon 1 MMR_c.1304C>T NM_000249.2(MLH1):c.1304C>T MMR substitution exon 1 MMR_c.1166G>A NM_000249.2(MLH1):c.1166G>A MMR substitution exon 1 MMR_c.1238C>T NM_000249.2(MLH1):c.1238C>T MMR substitution exon 1 MMR_c.1259C>G NM_000249.2(MLH1):c.1259C>G MMR substitution exon 1 MMR_c.1056T>A NM_000249.2(MLH1):c.1056T>A MMR substitution exon 1 MMR_c.1061delG NM_000249.2(MLH1):c.1061delG MMR deletion exon 1 MMR_c.1090A>G NM_000249.2(MLH1):c.1090A>G MMR substitution exon 1 MMR_c.1101delC NM_000249.2(MLH1):c.1101delC MMR deletion exon 1 MMR_c.1127_1128dupAT NM_000249.2(MLH1):c.1127_1128dupAT MMR duplication exon 1 MMR_c.1153C>T NM_000249.2(MLH1):c.1153C>T MMR substitution exon 1 MMR_c.1154G>C NM_000249.2(MLH1):c.1154G>C MMR substitution exon 1 MMR_c.1192C>T NM_000249.2(MLH1):c.1192C>T MMR substitution exon 1 MMR_c.1198C>G NM_000249.2(MLH1):c.1198C>G MMR substitution exon 1 MMR_c.1254T>G/A NM_000249.2(MLH1):c.1254T>G/A MMR substitution exon 1 MMR_c.1261delA NM_000249.2(MLH1):c.1261delA MMR deletion exon 1 MMR_c.1266C>T NM_000249.2(MLH1):c.1266C>T MMR substitution exon 1 MMR_c.1276C>T NM_000249.2(MLH1):c.1276C>T MMR substitution exon 1 MMR_c.1297G>C NM_000249.2(MLH1):c.1297G>C MMR substitution exon 1 MMR_c.1380_1381insT NM_000249.2(MLH1):c.1380_1381insT MMR insertion exon 1 MMR_c.1381A>T NM_000249.2(MLH1):c.1381A>T MMR substitution exon 1 MMR_c.1383G>T/C NM_000249.2(MLH1):c.1383G>T/C MMR substitution exon 1 MMR_c.1398delC NM_000249.2(MLH1):c.1398delC MMR deletion exon 1 MMR_c.1406C>T NM_000249.2(MLH1):c.1406C>T MMR substitution exon 1 MMR_c.1377dupA NM_000249.2(MLH1):c.1377dupA MMR duplication exon 1 MMR_c.1225C>T NM_000249.2(MLH1):c.1225C>T MMR substitution exon 1 MMR_c.1373T>A NM_000249.2(MLH1):c.1373T>A MMR substitution exon 1 MMR_c.1402A>G NM_000249.2(MLH1):c.1402A>G MMR substitution exon 1 MMR_c.1362dupG NM_000249.2(MLH1):c.1362dupG MMR duplication exon 1 MMR_c.1046dupT NM_000249.2(MLH1):c.1046dupT MMR duplication exon 1 MMR_c.1165C>T NM_000249.2(MLH1):c.1165C>T MMR substitution exon 1 MMR_c.1246A>G NM_000249.2(MLH1):c.1246A>G MMR substitution exon 1 MMR_c.1128T>C NM_000249.2(MLH1):c.1128T>C MMR substitution exon 1 MMR_c.1409+1G>A NM_000249.2(MLH1):c.1409+1G>A MMR substitution intron 1 MMR_c.1409+1G>C NM_000249.2(MLH1):c.1409+1G>C MMR substitution intron 1 MMR_c.1410-55G>T NM_000249.2(MLH1):c.1410-55G>T MMR substitution intron 1 MMR_c.1410-23G>T NM_000249.2(MLH1):c.1410-23G>T MMR substitution intron 1 MMR_c.1410-54C>T NM_000249.2(MLH1):c.1410-54C>T MMR substitution intron 1 MMR_c.1489dupC NM_000249.2(MLH1):c.1489dupC MMR duplication exon 1 MMR_c.1534G>T NM_000249.2(MLH1):c.1534G>T MMR substitution exon 1 MMR_c.1554dupT NM_000249.2(MLH1):c.1554dupT MMR duplication exon 1 MMR_c.1410-?_1558+?del NM_000249.2(MLH1):c.1410-?_1558+?del MMR deletion not within known transcription unit 0 MMR_c.1410_1413delAAAG NM_000249.2(MLH1):c.1410_1413delAAAG MMR deletion exon 1 MMR_c.1410-?_2271+?del NM_000249.2(MLH1):c.1410-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.1459C>T NM_000249.2(MLH1):c.1459C>T MMR substitution exon 1 MMR_c.1463delA NM_000249.2(MLH1):c.1463delA MMR deletion exon 1 MMR_c.1491delG NM_000249.2(MLH1):c.1491delG MMR deletion exon 1 MMR_c.1413_1416delGAGA NM_000249.2(MLH1):c.1413_1416delGAGA MMR deletion exon 1 MMR_c.1474G>A NM_000249.2(MLH1):c.1474G>A MMR substitution exon 1 MMR_c.1517T>C NM_000249.2(MLH1):c.1517T>C MMR substitution exon 1 MMR_c.1412dupA NM_000249.2(MLH1):c.1412dupA MMR duplication exon 1 MMR_c.1487C>G NM_000249.2(MLH1):c.1487C>G MMR substitution exon 1 MMR_c.1411_1414delAAGA NM_000249.2(MLH1):c.1411_1414delAAGA MMR deletion exon 1 MMR_c.1421G>A NM_000249.2(MLH1):c.1421G>A MMR substitution exon 1 MMR_c.1455T>A NM_000249.2(MLH1):c.1455T>A MMR substitution exon 1 MMR_c.1487C>T NM_000249.2(MLH1):c.1487C>T MMR substitution exon 1 MMR_c.1542dupT NM_000249.2(MLH1):c.1542dupT MMR duplication exon 1 MMR_c.1528C>T NM_000249.2(MLH1):c.1528C>T MMR substitution exon 1 MMR_c.1413G>A NM_000249.2(MLH1):c.1413G>A MMR substitution exon 1 MMR_c.1520dupT NM_000249.2(MLH1):c.1520dupT MMR duplication exon 1 MMR_c.1410-?_1731+?del NM_000249.2(MLH1):c.1410-?_1731+?del MMR deletion not within known transcription unit 0 MMR_c.1414dupA NM_000249.2(MLH1):c.1414dupA MMR duplication exon 1 MMR_c.1415G>T NM_000249.2(MLH1):c.1415G>T MMR substitution exon 1 MMR_c.1420delC NM_000249.2(MLH1):c.1420delC MMR deletion exon 1 MMR_c.1453G>C NM_000249.2(MLH1):c.1453G>C MMR substitution exon 1 MMR_c.1471delA NM_000249.2(MLH1):c.1471delA MMR deletion exon 1 MMR_c.1489delC NM_000249.2(MLH1):c.1489delC MMR deletion exon 1 MMR_c.1489_1490ins11 NM_000249.2(MLH1):c.1489_1490ins11 MMR insertion exon 1 MMR_c.1497delG NM_000249.2(MLH1):c.1497delG MMR deletion exon 1 MMR_c.1499_1501delTCA NM_000249.2(MLH1):c.1499_1501delTCA MMR deletion exon 1 MMR_c.1543G>A NM_000249.2(MLH1):c.1543G>A MMR substitution exon 1 MMR_c.1549G>T NM_000249.2(MLH1):c.1549G>T MMR substitution exon 1 MMR_c.1415_1416delGA NM_000249.2(MLH1):c.1415_1416delGA MMR deletion exon 1 MMR_c.1525C>T NM_000249.2(MLH1):c.1525C>T MMR substitution exon 1 MMR_c.1420C>T NM_000249.2(MLH1):c.1420C>T MMR substitution exon 1 MMR_c.1558+14G>A NM_000249.2(MLH1):c.1558+14G>A MMR substitution intron 1 MMR_c.1559-3C>G NM_000249.2(MLH1):c.1559-3C>G MMR substitution intron 1 MMR_c.1558+4245A>G NM_000249.2(MLH1):c.1558+4245A>G MMR substitution intron 1 MMR_c.1558+2T>G NM_000249.2(MLH1):c.1558+2T>G MMR substitution intron 1 MMR_c.1558+1G>T NM_000249.2(MLH1):c.1558+1G>T MMR substitution intron 1 MMR_c.1558+2204A>C NM_000249.2(MLH1):c.1558+2204A>C MMR substitution intron 1 MMR_c.1558+?_1559-?del NM_000249.2(MLH1):c.1558+?_1559-?del MMR deletion not within known transcription unit 0 MMR_c.1558+11G>A NM_000249.2(MLH1):c.1558+11G>A MMR substitution intron 1 MMR_c.1558+13T>A NM_000249.2(MLH1):c.1558+13T>A MMR substitution intron 1 MMR_c.1559-9dupG NM_000249.2(MLH1):c.1559-9dupG MMR duplication intron 1 MMR_c.1559-2A>C NM_000249.2(MLH1):c.1559-2A>C MMR substitution intron 1 MMR_c.1559-2A>G NM_000249.2(MLH1):c.1559-2A>G MMR substitution intron 1 MMR_c.1559-2A>T NM_000249.2(MLH1):c.1559-2A>T MMR substitution intron 1 MMR_c.1559-1G>A NM_000249.2(MLH1):c.1559-1G>A MMR substitution intron 1 MMR_c.1559-1G>T NM_000249.2(MLH1):c.1559-1G>T MMR substitution intron 1 MMR_c.1558+58G>A NM_000249.2(MLH1):c.1558+58G>A MMR substitution intron 1 MMR_c.1559-1G>C NM_000249.2(MLH1):c.1559-1G>C MMR substitution intron 1 MMR_c.1558+17G>A NM_000249.2(MLH1):c.1558+17G>A MMR substitution intron 1 MMR_c.1561C>A NM_000249.2(MLH1):c.1561C>A MMR substitution exon 1 MMR_c.1609C>T NM_000249.2(MLH1):c.1609C>T MMR substitution exon 1 MMR_c.1622delC NM_000249.2(MLH1):c.1622delC MMR deletion exon 1 MMR_c.1640T>A NM_000249.2(MLH1):c.1640T>A MMR substitution exon 1 MMR_c.1649T>C NM_000249.2(MLH1):c.1649T>C MMR substitution exon 1 MMR_c.1652A>C NM_000249.2(MLH1):c.1652A>C MMR substitution exon 1 MMR_c.1666A>G NM_000249.2(MLH1):c.1666A>G MMR substitution exon 1 MMR_c.1625A>T NM_000249.2(MLH1):c.1625A>T MMR substitution exon 1 MMR_c.1559-?_1731+?del NM_000249.2(MLH1):c.1559-?_1731+?del MMR deletion not within known transcription unit 0 MMR_c.1569G>T NM_000249.2(MLH1):c.1569G>T MMR substitution exon 1 MMR_c.1591_1592delGT NM_000249.2(MLH1):c.1591_1592delGT MMR deletion exon 1 MMR_c.1646T>C NM_000249.2(MLH1):c.1646T>C MMR substitution exon 1 MMR_c.1559-?_1667+?del NM_000249.2(MLH1):c.1559-?_1667+?del MMR deletion not within known transcription unit 0 MMR_c.1559-?_2271+?del NM_000249.2(MLH1):c.1559-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.1565G>T NM_000249.2(MLH1):c.1565G>T MMR substitution exon 1 MMR_c.1564C>T NM_000249.2(MLH1):c.1564C>T MMR substitution exon 1 MMR_c.1573T>C NM_000249.2(MLH1):c.1573T>C MMR substitution exon 1 MMR_c.1573_1574delTT NM_000249.2(MLH1):c.1573_1574delTT MMR deletion exon 1 MMR_c.1576C>T NM_000249.2(MLH1):c.1576C>T MMR substitution exon 1 MMR_c.1596C>T NM_000249.2(MLH1):c.1596C>T MMR substitution exon 1 MMR_c.1620_1621delGG NM_000249.2(MLH1):c.1620_1621delGG MMR deletion exon 1 MMR_c.1625A>C NM_000249.2(MLH1):c.1625A>C MMR substitution exon 1 MMR_c.1630C>T NM_000249.2(MLH1):c.1630C>T MMR substitution exon 1 MMR_c.1644C>G NM_000249.2(MLH1):c.1644C>G MMR substitution exon 1 MMR_c.1658_1660delCCA NM_000249.2(MLH1):c.1658_1660delCCA MMR deletion exon 1 MMR_c.1664_1665insAAGT NM_000249.2(MLH1):c.1664_1665insAAGT MMR insertion exon 1 MMR_c.1667G>T NM_000249.2(MLH1):c.1667G>T MMR substitution exon 1 MMR_c.1624C>T NM_000249.2(MLH1):c.1624C>T MMR substitution exon 1 MMR_c.1633A>G NM_000249.2(MLH1):c.1633A>G MMR substitution exon 1 MMR_c.1656_1658delCAC NM_000249.2(MLH1):c.1656_1658delCAC MMR deletion exon 1 MMR_c.1614G>A NM_000249.2(MLH1):c.1614G>A MMR substitution exon 1 MMR_c.1616C>A NM_000249.2(MLH1):c.1616C>A MMR substitution exon 1 MMR_c.1668-19A>G NM_000249.2(MLH1):c.1668-19A>G MMR substitution intron 1 MMR_c.1668-885T>C NM_000249.2(MLH1):c.1668-885T>C MMR substitution intron 1 MMR_c.1668-3C>A NM_000249.2(MLH1):c.1668-3C>A MMR substitution intron 1 MMR_c.1668-3C>T NM_000249.2(MLH1):c.1668-3C>T MMR substitution intron 1 MMR_c.1668-1G>A NM_000249.2(MLH1):c.1668-1G>A MMR substitution intron 1 MMR_c.1731G>A NM_000249.2(MLH1):c.1731G>A MMR substitution exon 1 MMR_c.1672G>T NM_000249.2(MLH1):c.1672G>T MMR substitution exon 1 MMR_c.1676T>G NM_000249.2(MLH1):c.1676T>G MMR substitution exon 1 MMR_c.1669G>T NM_000249.2(MLH1):c.1669G>T MMR substitution exon 1 MMR_c.1668-?_1734+?del NM_000249.2(MLH1):c.1668-?_1734+?del MMR deletion not within known transcription unit 0 MMR_c.1683C>G NM_000249.2(MLH1):c.1683C>G MMR substitution exon 1 MMR_c.1721T>C NM_000249.2(MLH1):c.1721T>C MMR substitution exon 1 MMR_c.1725delG NM_000249.2(MLH1):c.1725delG MMR deletion exon 1 MMR_c.1684C>T NM_000249.2(MLH1):c.1684C>T MMR substitution exon 1 MMR_complex_15 NM_000249.2(MLH1):c.[1668-?_1734+?del;1853A>G] MMR complex not within known transcription unit 0 MMR_c.2459-?_2634+?dup NM_000249.2(MLH1):c.2459-?_2634+?dup MMR duplication not within known transcription unit 0 MMR_c.1693A>T NM_000249.2(MLH1):c.1693A>T MMR substitution exon 1 MMR_c.1733A>G NM_000249.2(MLH1):c.1733A>G MMR substitution exon 1 MMR_c.1744C>G NM_000249.2(MLH1):c.1744C>G MMR substitution exon 1 MMR_c.1668-?_1896+?del NM_000249.2(MLH1):c.1668-?_1896+?del MMR deletion not within known transcription unit 0 MMR_c.1689dupA NM_000249.2(MLH1):c.1689dupA MMR duplication exon 1 MMR_c.1717_1718delGT NM_000249.2(MLH1):c.1717_1718delGT MMR deletion exon 1 MMR_c.1711T>C NM_000249.2(MLH1):c.1711T>C MMR substitution exon 1 MMR_c.1681T>C NM_000249.2(MLH1):c.1681T>C MMR substitution exon 1 MMR_c.1702T>A NM_000249.2(MLH1):c.1702T>A MMR substitution exon 1 MMR_c.1690_1693delCTCA NM_000249.2(MLH1):c.1690_1693delCTCA MMR deletion exon 1 MMR_c.1731+5G>A NM_000249.2(MLH1):c.1731+5G>A MMR substitution intron 1 MMR_c.1731+3A>T NM_000249.2(MLH1):c.1731+3A>T MMR substitution intron 1 MMR_c.1732-2A>T NM_000249.2(MLH1):c.1732-2A>T MMR substitution intron 1 MMR_c.1731+1G>A NM_000249.2(MLH1):c.1731+1G>A MMR substitution intron 1 MMR_c.1731+1G>C NM_000249.2(MLH1):c.1731+1G>C MMR substitution intron 1 MMR_c1732-5T>C NM_000249.2(MLH1):c1732-5T>C MMR substitution intron 1 MMR_c.1732-1G>A NM_000249.2(MLH1):c.1732-1G>A MMR substitution intron 1 MMR_c.1732-20A>G NM_000249.2(MLH1):c.1732-20A>G MMR substitution intron 1 MMR_c.1731+2T>G NM_000249.2(MLH1):c.1731+2T>G MMR substitution intron 1 MMR_c.1732-9T>C NM_000249.2(MLH1):c.1732-9T>C MMR substitution intron 1 MMR_c.1783_1784delAG NM_000249.2(MLH1):c.1783_1784delAG MMR deletion exon 1 MMR_c.1852_1854delAAG NM_000249.2(MLH1):c.1852_1854delAAG MMR deletion exon 1 MMR_c.1852_1853delAAinsGC NM_000249.2(MLH1):c.1852_1853delAAinsGC MMR complex exon 1 MMR_c.1778_1779delCA NM_000249.2(MLH1):c.1778_1779delCA MMR deletion exon 1 MMR_c.1766C>A NM_000249.2(MLH1):c.1766C>A MMR substitution exon 1 MMR_c.1835_1837delTTG NM_000249.2(MLH1):c.1835_1837delTTG MMR deletion exon 1 MMR_c.1732-?_1896+?del NM_000249.2(MLH1):c.1732-?_1896+?del MMR deletion not within known transcription unit 0 MMR_c.1742C>T NM_000249.2(MLH1):c.1742C>T MMR substitution exon 1 MMR_c.1790G>A NM_000249.2(MLH1):c.1790G>A MMR substitution exon 1 MMR_c.1831_1832delAT NM_000249.2(MLH1):c.1831_1832delAT MMR deletion exon 1 MMR_c.1732-?_2271+?del NM_000249.2(MLH1):c.1732-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.1851_1853delGAA NM_000249.2(MLH1):c.1851_1853delGAA MMR deletion exon 1 MMR_c.1757C>A NM_000249.2(MLH1):c.1757C>A MMR substitution exon 1 MMR_c.1855delG NM_000249.2(MLH1):c.1855delG MMR deletion exon 1 MMR_c.1769_1772delTAGA NM_000249.2(MLH1):c.1769_1772delTAGA MMR deletion exon 1 MMR_c.1758dupC NM_000249.2(MLH1):c.1758dupC MMR duplication exon 1 MMR_c.1884_1888delGGAAA NM_000249.2(MLH1):c.1884_1888delGGAAA MMR deletion exon 1 MMR_c.1853A>C NM_000249.2(MLH1):c.1853A>C MMR substitution exon 1 MMR_c.1852_1853delinsGC NM_000249.2(MLH1):c.1852_1853delinsGC MMR complex exon 1 MMR_c.1749delT NM_000249.2(MLH1):c.1749delT MMR deletion exon 1 MMR_c.1834_1836delGTT NM_000249.2(MLH1):c.1834_1836delGTT MMR deletion exon 1 MMR_c.1878C>T NM_000249.2(MLH1):c.1878C>T MMR substitution exon 1 MMR_c.1756G>C NM_000249.2(MLH1):c.1756G>C MMR substitution exon 1 MMR_c.1763T>C NM_000249.2(MLH1):c.1763T>C MMR substitution exon 1 MMR_c.1808C>G NM_000249.2(MLH1):c.1808C>G MMR substitution exon 1 MMR_c.1820T>A NM_000249.2(MLH1):c.1820T>A MMR substitution exon 1 MMR_c.1865T>A NM_000249.2(MLH1):c.1865T>A MMR substitution exon 1 MMR_c.1865T>C NM_000249.2(MLH1):c.1865T>C MMR substitution exon 1 MMR_c.1875T>G NM_000249.2(MLH1):c.1875T>G MMR substitution exon 1 MMR_complex_16 NM_000249.2(MLH1):c.[1-?_1559+?del(+)1733A>G] MMR complex not within known transcription unit 0 MMR_c.1744C>T NM_000249.2(MLH1):c.1744C>T MMR substitution exon 1 MMR_c.1757_1758insT NM_000249.2(MLH1):c.1757_1758insT MMR insertion exon 1 MMR_c.1758delC NM_000249.2(MLH1):c.1758delC MMR deletion exon 1 MMR_c.1764delT NM_000249.2(MLH1):c.1764delT MMR deletion exon 1 MMR_c.1769delT NM_000249.2(MLH1):c.1769delT MMR deletion exon 1 MMR_c.1772_1775delATAG NM_000249.2(MLH1):c.1772_1775delATAG MMR deletion exon 1 MMR_c.1802A>G NM_000249.2(MLH1):c.1802A>G MMR substitution exon 1 MMR_c.1810A>T NM_000249.2(MLH1):c.1810A>T MMR substitution exon 1 MMR_c.1812dupA NM_000249.2(MLH1):c.1812dupA MMR duplication exon 1 MMR_c.1946_1948delCTT NM_000249.2(MLH1):c.1946_1948delCTT MMR deletion exon 1 MMR_c.1852A>G NM_000249.2(MLH1):c.1852A>G MMR substitution exon 1 MMR_c.1852A>T NM_000249.2(MLH1):c.1852A>T MMR substitution exon 1 MMR_complex_17 NM_000249.2(MLH1):c.[790+3A>T(+)c.1852_1853delAAinsGC] MMR complex not within known transcription unit 1 MMR_complex_18 NM_000249.2(MLH1):c.[1852_1853delAAinsGC;2146G>A] MMR complex exon 1 MMR_c.1853A>G NM_000249.2(MLH1):c.1853A>G MMR substitution exon 1 MMR_c.1877delT NM_000249.2(MLH1):c.1877delT MMR deletion exon 1 MMR_complex_19 NM_000249.2(MLH1):c.[1877T>C(+)1879T>A] MMR substitution exon 1 MMR_c.1877_1883delTCTCTTT NM_000249.2(MLH1):c.1877_1883delTCTCTTT MMR deletion exon 1 MMR_c.1892A>C NM_000249.2(MLH1):c.1892A>C MMR substitution exon 1 MMR_c.1896G>A NM_000249.2(MLH1):c.1896G>A MMR substitution exon 1 MMR_c.1896delG NM_000249.2(MLH1):c.1896delG MMR deletion exon 1 MMR_c.1745T>C NM_000249.2(MLH1):c.1745T>C MMR substitution exon 1 MMR_c.1879_1882delTCTT NM_000249.2(MLH1):c.1879_1882delTCTT MMR deletion exon 1 MMR_c.1846_1848delAAG NM_000249.2(MLH1):c.1846_1848delAAG MMR deletion exon 1 MMR_c.1799A>G NM_000249.2(MLH1):c.1799A>G MMR substitution exon 1 MMR_c.1759A>G NM_000249.2(MLH1):c.1759A>G MMR substitution exon 1 MMR_c.1788C>T NM_000249.2(MLH1):c.1788C>T MMR substitution exon 1 MMR_c.1823C>A NM_000249.2(MLH1):c.1823C>A MMR substitution exon 1 MMR_c.1754T>G NM_000249.2(MLH1):c.1754T>G MMR substitution exon 1 MMR_c.1855G>C NM_000249.2(MLH1):c.1855G>C MMR substitution exon 1 MMR_c.1896+1G>A NM_000249.2(MLH1):c.1896+1G>A MMR substitution intron 1 MMR_c.1896+1G>T NM_000249.2(MLH1):c.1896+1G>T MMR substitution intron 1 MMR_c.1896+1delG NM_000249.2(MLH1):c.1896+1delG MMR deletion intron 1 MMR_c.1896+2T>C NM_000249.2(MLH1):c.1896+2T>C MMR substitution intron 1 MMR_c.1896+36T>C NM_000249.2(MLH1):c.1896+36T>C MMR substitution intron 1 MMR_c.1897-2A>G NM_000249.2(MLH1):c.1897-2A>G MMR substitution intron 1 MMR_c.1897-1G>A NM_000249.2(MLH1):c.1897-1G>A MMR substitution intron 1 MMR_c.1975C>T NM_000249.2(MLH1):c.1975C>T MMR substitution exon 1 MMR_c.1976G>C NM_000249.2(MLH1):c.1976G>C MMR substitution exon 1 MMR_c.1937A>G NM_000249.2(MLH1):c.1937A>G MMR substitution exon 1 MMR_c.1943C>T NM_000249.2(MLH1):c.1943C>T MMR substitution exon 1 MMR_c.1942C>T NM_000249.2(MLH1):c.1942C>T MMR substitution exon 1 MMR_c.1961C>T NM_000249.2(MLH1):c.1961C>T MMR substitution exon 1 MMR_c.1976G>A NM_000249.2(MLH1):c.1976G>A MMR substitution exon 1 MMR_c.1946delC NM_000249.2(MLH1):c.1946delC MMR deletion exon 1 MMR_c.1918C>T NM_000249.2(MLH1):c.1918C>T MMR substitution exon 1 MMR_c.1963A>G NM_000249.2(MLH1):c.1963A>G MMR substitution exon 1 MMR_c.1897delG NM_000249.2(MLH1):c.1897delG MMR deletion exon 1 MMR_c.1964T>C NM_000249.2(MLH1):c.1964T>C MMR substitution exon 1 MMR_complex_20 NM_000249.2(MLH1):c.[1984A>C(+)1653C>T(+)1959G>T] MMR substitution exon 1 MMR_c.1986_1989+1delinsC NM_000249.2(MLH1):c.1986_1989+1delinsC MMR complex not within known transcription unit 1 MMR_c.1959G>T NM_000249.2(MLH1):c.1959G>T MMR substitution exon 1 MMR_c.1989G>T NM_000249.2(MLH1):c.1989G>T MMR substitution exon 1 MMR_c.1976_1977delGA NM_000249.2(MLH1):c.1976_1977delGA MMR deletion exon 1 MMR_c.1953_1956delGGGA NM_000249.2(MLH1):c.1953_1956delGGGA MMR deletion exon 1 MMR_c.1897-?_1989+?del NM_000249.2(MLH1):c.1897-?_1989+?del MMR deletion not within known transcription unit 0 MMR_c.1904A>G NM_000249.2(MLH1):c.1904A>G MMR substitution exon 1 MMR_c.1958T>G NM_000249.2(MLH1):c.1958T>G MMR substitution exon 1 MMR_c.1939G>A NM_000249.2(MLH1):c.1939G>A MMR substitution exon 1 MMR_c.1897-3_1904delCAGGAAGGGAA NM_000249.2(MLH1):c.1897-3_1904delCAGGAAGGGAA MMR deletion not within known transcription unit 1 MMR_c.1989G>A NM_000249.2(MLH1):c.1989G>A MMR substitution exon 1 MMR_c.1900G>A NM_000249.2(MLH1):c.1900G>A MMR substitution exon 1 MMR_c.1905C>G NM_000249.2(MLH1):c.1905C>G MMR substitution exon 1 MMR_c.1907T>C NM_000249.2(MLH1):c.1907T>C MMR substitution exon 1 MMR_c.1916T>G NM_000249.2(MLH1):c.1916T>G MMR substitution exon 1 MMR_c.1912G>T NM_000249.2(MLH1):c.1912G>T MMR substitution exon 1 MMR_c.1917A>G NM_000249.2(MLH1):c.1917A>G MMR substitution exon 1 MMR_c.1924_1925delCT NM_000249.2(MLH1):c.1924_1925delCT MMR deletion exon 1 MMR_c.1971delT NM_000249.2(MLH1):c.1971delT MMR deletion exon 1 MMR_c.1975_1976delCG NM_000249.2(MLH1):c.1975_1976delCG MMR deletion exon 1 MMR_complex_21 NM_000249.2(MLH1):c.[1976G>C(+)2041G>A] MMR substitution exon 1 MMR_c.1976G>T NM_000249.2(MLH1):c.1976G>T MMR substitution exon 1 MMR_c.1984A>C NM_000249.2(MLH1):c.1984A>C MMR substitution exon 1 MMR_c.1988A>G NM_000249.2(MLH1):c.1988A>G MMR substitution exon 1 MMR_c.1919C>T NM_000249.2(MLH1):c.1919C>T MMR substitution exon 1 MMR_c.1967T>C NM_000249.2(MLH1):c.1967T>C MMR substitution exon 1 MMR_c.1988delA NM_000249.2(MLH1):c.1988delA MMR deletion exon 1 MMR_c.1988A>C NM_000249.2(MLH1):c.1988A>C MMR substitution exon 1 MMR_c.1990-121C>T NM_000249.2(MLH1):c.1990-121C>T MMR substitution intron 1 MMR_c.1989+5G>C NM_000249.2(MLH1):c.1989+5G>C MMR substitution intron 1 MMR_c.1989+1G>A NM_000249.2(MLH1):c.1989+1G>A MMR substitution intron 1 MMR_c.1989+7dupG NM_000249.2(MLH1):c.1989+7dupG MMR duplication intron 1 MMR_c.1990-16_1990-2del NM_000249.2(MLH1):c.1990-16_1990-2del MMR deletion intron 1 MMR_c.1990-3C>G NM_000249.2(MLH1):c.1990-3C>G MMR substitution intron 1 MMR_c.1990-2A>G NM_000249.2(MLH1):c.1990-2A>G MMR substitution intron 1 MMR_c.1990-1G>A NM_000249.2(MLH1):c.1990-1G>A MMR substitution intron 1 MMR_c.1989+1G>T NM_000249.2(MLH1):c.1989+1G>T MMR substitution intron 1 MMR_c.1990-1G>T NM_000249.2(MLH1):c.1990-1G>T MMR substitution intron 1 MMR_c.2009delA NM_000249.2(MLH1):c.2009delA MMR deletion exon 1 MMR_c.2067_2073delGTACATA NM_000249.2(MLH1):c.2067_2073delGTACATA MMR deletion exon 1 MMR_c.2092_2093delTC NM_000249.2(MLH1):c.2092_2093delTC MMR deletion exon 1 MMR_c.2103G>C NM_000249.2(MLH1):c.2103G>C MMR substitution exon 1 MMR_c.2059C>T NM_000249.2(MLH1):c.2059C>T MMR substitution exon 1 MMR_c.2041G>A NM_000249.2(MLH1):c.2041G>A MMR substitution exon 1 MMR_complex_22 NM_000249.2(MLH1):c.[2103G>C(+)2210A>T] MMR substitution exon 1 MMR_c.2040C>A NM_000249.2(MLH1):c.2040C>A MMR substitution exon 1 MMR_c.2101C>T NM_000249.2(MLH1):c.2101C>T MMR substitution exon 1 MMR_c.2027T>G NM_000249.2(MLH1):c.2027T>G MMR substitution exon 1 MMR_c.2066A>G NM_000249.2(MLH1):c.2066A>G MMR substitution exon 1 MMR_c.2078_2172del NM_000249.2(MLH1):c.2078_2172del MMR deletion exon 1 MMR_c.2084C>A NM_000249.2(MLH1):c.2084C>A MMR substitution exon 1 MMR_c.2101C>A NM_000249.2(MLH1):c.2101C>A MMR substitution exon 1 MMR_c.2099_2102delAGCA NM_000249.2(MLH1):c.2099_2102delAGCA MMR deletion exon 1 MMR_c.1990-?_2271+?del NM_000249.2(MLH1):c.1990-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.1998G>A NM_000249.2(MLH1):c.1998G>A MMR substitution exon 1 MMR_c.2000dupA NM_000249.2(MLH1):c.2000dupA MMR duplication exon 1 MMR_c.2000A>G NM_000249.2(MLH1):c.2000A>G MMR substitution exon 1 MMR_c.2001C>T NM_000249.2(MLH1):c.2001C>T MMR substitution exon 1 MMR_c.2002G>A NM_000249.2(MLH1):c.2002G>A MMR substitution exon 1 MMR_c.2006_2010delAAAAG NM_000249.2(MLH1):c.2006_2010delAAAAG MMR deletion exon 1 MMR_c.2011G>T NM_000249.2(MLH1):c.2011G>T MMR substitution exon 1 MMR_c.2038T>G NM_000249.2(MLH1):c.2038T>G MMR substitution exon 1 MMR_c.2040C>T NM_000249.2(MLH1):c.2040C>T MMR substitution exon 1 MMR_c.2042C>T NM_000249.2(MLH1):c.2042C>T MMR substitution exon 1 MMR_c.2076_2077delTG NM_000249.2(MLH1):c.2076_2077delTG MMR deletion exon 1 MMR_c.2081_2082insT NM_000249.2(MLH1):c.2081_2082insT MMR insertion exon 1 MMR_c.2038T>C NM_000249.2(MLH1):c.2038T>C MMR substitution exon 1 MMR_c.2051A>G NM_000249.2(MLH1):c.2051A>G MMR substitution exon 1 MMR_c.1996T>C NM_000249.2(MLH1):c.1996T>C MMR substitution exon 1 MMR_c.2103+1G>A NM_000249.2(MLH1):c.2103+1G>A MMR substitution intron 1 MMR_c.2104-2A>T NM_000249.2(MLH1):c.2104-2A>T MMR substitution intron 1 MMR_c.2103+1G>T NM_000249.2(MLH1):c.2103+1G>T MMR substitution intron 1 MMR_c.2104-22T>G NM_000249.2(MLH1):c.2104-22T>G MMR substitution intron 1 MMR_c.2104-2A>G NM_000249.2(MLH1):c.2104-2A>G MMR substitution intron 1 MMR_c.2104-11G>A NM_000249.2(MLH1):c.2104-11G>A MMR substitution intron 1 MMR_c.2104-7T>G NM_000249.2(MLH1):c.2104-7T>G MMR substitution intron 1 MMR_c.2146G>A NM_000249.2(MLH1):c.2146G>A MMR substitution exon 1 MMR_c.2269dupT NM_000249.2(MLH1):c.2269dupT MMR duplication exon 1 MMR_c.2152C>T NM_000249.2(MLH1):c.2152C>T MMR substitution exon 1 MMR_c.2250C>G NM_000249.2(MLH1):c.2250C>G MMR substitution exon 1 MMR_c.2142G>A NM_000249.2(MLH1):c.2142G>A MMR substitution exon 1 MMR_c.2141G>A NM_000249.2(MLH1):c.2141G>A MMR substitution exon 1 MMR_c.2246T>C NM_000249.2(MLH1):c.2246T>C MMR substitution exon 1 MMR_c.2252A>G NM_000249.2(MLH1):c.2252A>G MMR substitution exon 1 MMR_c.2265G>C NM_000249.2(MLH1):c.2265G>C MMR substitution exon 1 MMR_c.2221_2224delCTGCins30 NM_000249.2(MLH1):c.2221_2224delCTGCins30 MMR complex exon 1 MMR_c.2224delC NM_000249.2(MLH1):c.2224delC MMR deletion exon 1 MMR_c.2223_2233delGCAGCTTGCTA NM_000249.2(MLH1):c.2223_2233delGCAGCTTGCTA MMR deletion exon 1 MMR_c.2161_2166dupTATAAA NM_000249.2(MLH1):c.2161_2166dupTATAAA MMR duplication exon 1 MMR_c.2179_2182delCACA NM_000249.2(MLH1):c.2179_2182delCACA MMR deletion exon 1 MMR_c.2194_2197dupAAAC NM_000249.2(MLH1):c.2194_2197dupAAAC MMR duplication exon 1 MMR_c.2104-?_2271+?dup NM_000249.2(MLH1):c.2104-?_2271+?dup MMR duplication not within known transcription unit 0 MMR_c.2136G>A NM_000249.2(MLH1):c.2136G>A MMR substitution exon 1 MMR_c.2210A>T NM_000249.2(MLH1):c.2210A>T MMR substitution exon 1 MMR_c.2263A>T NM_000249.2(MLH1):c.2263A>T MMR substitution exon 1 MMR_c.2252_2253dupAA NM_000249.2(MLH1):c.2252_2253dupAA MMR duplication exon 1 MMR_c.2190_2191insAACA NM_000249.2(MLH1):c.2190_2191insAACA MMR insertion exon 1 MMR_c.2135G>A NM_000249.2(MLH1):c.2135G>A MMR substitution exon 1 MMR_c.2185C>G NM_000249.2(MLH1):c.2185C>G MMR substitution exon 1 MMR_c.2195_2198dupAACA NM_000249.2(MLH1):c.2195_2198dupAACA MMR duplication exon 1 MMR_c.2262delG NM_000249.2(MLH1):c.2262delG MMR deletion exon 1 MMR_c.2104-?_2271+?del NM_000249.2(MLH1):c.2104-?_2271+?del MMR deletion not within known transcription unit 0 MMR_c.2104_2105delAG NM_000249.2(MLH1):c.2104_2105delAG MMR deletion exon 1 MMR_c.2154_2155delCA NM_000249.2(MLH1):c.2154_2155delCA MMR deletion exon 1 MMR_c.2154_2155dupCA NM_000249.2(MLH1):c.2154_2155dupCA MMR duplication exon 1 MMR_c.2155_2156insATGTGTTCCACA NM_000249.2(MLH1):c.2155_2156insATGTGTTCCACA MMR insertion exon 1 MMR_c.2163T>A NM_000249.2(MLH1):c.2163T>A MMR substitution exon 1 MMR_c.2170T>A NM_000249.2(MLH1):c.2170T>A MMR substitution exon 1 MMR_c.2173C>T NM_000249.2(MLH1):c.2173C>T MMR substitution exon 1 MMR_c.2179_2180delCA NM_000249.2(MLH1):c.2179_2180delCA MMR deletion exon 1 MMR_c.2194A>T NM_000249.2(MLH1):c.2194A>T MMR substitution exon 1 MMR_c.2252_2253delAA NM_000249.2(MLH1):c.2252_2253delAA MMR deletion exon 1 MMR_c.2271A>T NM_000249.2(MLH1):c.2271A>T MMR substitution exon 1 MMR_c.2246T>A NM_000249.2(MLH1):c.2246T>A MMR substitution exon 1 MMR_c.2134T>A NM_000249.2(MLH1):c.2134T>A MMR substitution exon 1 MMR_c.*35_*37delCTT NM_000249.2(MLH1):c.*35_*37delCTT MMR deletion not within known transcription unit 1 MMR_c.*30_*32delTTC NM_000249.2(MLH1):c.*30_*32delTTC MMR deletion not within known transcription unit 1 MMR_c.*32_*34delCTT NM_000249.2(MLH1):c.*32_*34delCTT MMR deletion not within known transcription unit 1 MMR_c.*137A>T NM_000249.2(MLH1):c.*137A>T MMR substitution not within known transcription unit 1 MMR_c.-118T>C NM_000251.1(MSH2):c.-118T>C MMR substitution not within known transcription unit 1 MMR_c.1-?_211+?del NM_000251.1(MSH2):c.1-?_211+?del MMR deletion not within known transcription unit 0 MMR_c.-433T>G NM_000251.1(MSH2):c.-433T>G MMR substitution not within known transcription unit 1 MMR_c.-78_-79delGT NM_000251.1(MSH2):c.-78_-79delGT MMR deletion not within known transcription unit 1 MMR_c.1-?_1386+?del NM_000251.1(MSH2):c.1-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_1661+?del NM_000251.1(MSH2):c.1-?_1661+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_1759+?del NM_000251.1(MSH2):c.1-?_1759+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_2364+?del NM_000251.1(MSH2):c.1-?_2364+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_2805+?del NM_000251.1(MSH2):c.1-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.1A>T NM_000251.1(MSH2):c.1A>T MMR substitution exon 1 MMR_c.14C>A NM_000251.1(MSH2):c.14C>A MMR substitution exon 1 MMR_c.4_21dup NM_000251.1(MSH2):c.4_21dup MMR duplication exon 1 MMR_c.21dupG NM_000251.1(MSH2):c.21dupG MMR duplication exon 1 MMR_c.23C>T NM_000251.1(MSH2):c.23C>T MMR substitution exon 1 MMR_c.28C>T NM_000251.1(MSH2):c.28C>T MMR substitution exon 1 MMR_c.29dupA NM_000251.1(MSH2):c.29dupA MMR duplication exon 1 MMR_c.34dupG NM_000251.1(MSH2):c.34dupG MMR duplication exon 1 MMR_c.38G>T NM_000251.1(MSH2):c.38G>T MMR substitution exon 1 MMR_c.49G>T NM_000251.1(MSH2):c.49G>T MMR substitution exon 1 MMR_c.82G>T NM_000251.1(MSH2):c.82G>T MMR substitution exon 1 MMR_c.94_103delACCACAGTGC NM_000251.1(MSH2):c.94_103delACCACAGTGC MMR deletion exon 1 MMR_c.101T>A NM_000251.1(MSH2):c.101T>A MMR substitution exon 1 MMR_c.117G>A NM_000251.1(MSH2):c.117G>A MMR substitution exon 1 MMR_c.118G>A NM_000251.1(MSH2):c.118G>A MMR substitution exon 1 MMR_c.119delG NM_000251.1(MSH2):c.119delG MMR deletion exon 1 MMR_c.129T>G NM_000251.1(MSH2):c.129T>G MMR substitution exon 1 MMR_c.129T>A NM_000251.1(MSH2):c.129T>A MMR substitution exon 1 MMR_c.134C>T NM_000251.1(MSH2):c.134C>T MMR substitution exon 1 MMR_c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC NM_000251.1(MSH2):c.134_162delCGCACGGCGAGGACGCGCTGCTGGCCGCC MMR deletion exon 1 MMR_c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG NM_000251.1(MSH2):c.136_164delCACGGCGAGGACGCGCTGCTGGCCGCCCG MMR deletion exon 1 MMR_c.138C>G NM_000251.1(MSH2):c.138C>G MMR substitution exon 1 MMR_c.142G>T NM_000251.1(MSH2):c.142G>T MMR substitution exon 1 MMR_c.145delG NM_000251.1(MSH2):c.145delG MMR deletion exon 1 MMR_c.145_146delGA NM_000251.1(MSH2):c.145_146delGA MMR deletion exon 1 MMR_c.163delC NM_000251.1(MSH2):c.163delC MMR deletion exon 1 MMR_c.166delG NM_000251.1(MSH2):c.166delG MMR deletion exon 1 MMR_c.181C>T NM_000251.1(MSH2):c.181C>T MMR substitution exon 1 MMR_c.187delG NM_000251.1(MSH2):c.187delG MMR deletion exon 1 MMR_c.186_187dupGG NM_000251.1(MSH2):c.186_187dupGG MMR duplication exon 1 MMR_c.187dupG NM_000251.1(MSH2):c.187dupG MMR duplication exon 1 MMR_c.204delG NM_000251.1(MSH2):c.204delG MMR deletion exon 1 MMR_c.110delT NM_000251.1(MSH2):c.110delT MMR deletion exon 1 MMR_c.81delG NM_000251.1(MSH2):c.81delG MMR deletion exon 1 MMR_c.1-?_645+?del NM_000251.1(MSH2):c.1-?_645+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_1076+?del NM_000251.1(MSH2):c.1-?_1076+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_792+?del NM_000251.1(MSH2):c.1-?_792+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_1276+?del NM_000251.1(MSH2):c.1-?_1276+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_366+?del NM_000251.1(MSH2):c.1-?_366+?del MMR deletion not within known transcription unit 0 MMR_c.4G>A NM_000251.1(MSH2):c.4G>A MMR substitution exon 1 MMR_c.97A>C NM_000251.1(MSH2):c.97A>C MMR substitution exon 1 MMR_c.99A>C NM_000251.1(MSH2):c.99A>C MMR substitution exon 1 MMR_complex_23 NM_000251.1(MSH2):c.[1-?_1076+?del]+[454delA] MMR deletion not within known transcription unit 0 MMR_c.1-?_942+?del NM_000251.1(MSH2):c.1-?_942+?del MMR deletion not within known transcription unit 0 MMR_c.1-?_1077-66del NM_000251.1(MSH2):c.1-?_1077-66del MMR deletion not within known transcription unit 0 MMR_complex_24 NM_000251.1(MSH2):c.[1-?_1076+?del]+[367-?_645+?del] MMR deletion not within known transcription unit 0 MMR_c.97A>G NM_000251.1(MSH2):c.97A>G MMR substitution exon 1 MMR_c.128A>G NM_000251.1(MSH2):c.128A>G MMR substitution exon 1 MMR_c.1A>C NM_000251.1(MSH2):c.1A>C MMR substitution exon 1 MMR_c.54C>G NM_000251.1(MSH2):c.54C>G MMR substitution exon 1 MMR_c.146A>T NM_000251.1(MSH2):c.146A>T MMR substitution exon 1 MMR_c.154_155insG NM_000251.1(MSH2):c.154_155insG MMR insertion exon 1 MMR_complex_25 NM_000251.1(MSH2):c.[1-?_211+?del]+[1A>G] MMR complex not within known transcription unit 0 MMR_c.1A>G NM_000251.1(MSH2):c.1A>G MMR substitution exon 1 MMR_c.169G>A NM_000251.1(MSH2):c.169G>A MMR substitution exon 1 MMR_c.1-35298_1276+5697del67745 NM_000251.1(MSH2):c.1-35298_1276+5697del67745 MMR deletion not within known transcription unit 1 MMR_c.1277-?_1386+?del NM_000251.1(MSH2):c.1277-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.211+9C>G NM_000251.1(MSH2):c.211+9C>G MMR substitution intron 1 MMR_c.211+98T>C NM_000251.1(MSH2):c.211+98T>C MMR substitution intron 1 MMR_c.212-1G>A NM_000251.1(MSH2):c.212-1G>A MMR substitution intron 1 MMR_c.20delA NM_000251.1(MSH2):c.20delA MMR deletion exon 1 MMR_c.211+8C>G NM_000251.1(MSH2):c.211+8C>G MMR substitution intron 1 MMR_c.212-2A>G NM_000251.1(MSH2):c.212-2A>G MMR substitution intron 1 MMR_c.212-?_366+?del NM_000251.1(MSH2):c.212-?_366+?del MMR deletion not within known transcription unit 0 MMR_c.212-?_1076+?del NM_000251.1(MSH2):c.212-?_1076+?del MMR deletion not within known transcription unit 0 MMR_c.212-?_1276+?del NM_000251.1(MSH2):c.212-?_1276+?del MMR deletion not within known transcription unit 0 MMR_c.212-?_1386+?del NM_000251.1(MSH2):c.212-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.219G>A NM_000251.1(MSH2):c.219G>A MMR substitution exon 1 MMR_c.223_224delCT NM_000251.1(MSH2):c.223_224delCT MMR deletion exon 1 MMR_c.226C>T NM_000251.1(MSH2):c.226C>T MMR substitution exon 1 MMR_c.229_230delAG NM_000251.1(MSH2):c.229_230delAG MMR deletion exon 1 MMR_c.247dupA NM_000251.1(MSH2):c.247dupA MMR duplication exon 1 MMR_c.268_289dupAAAGATCTTCTTCTGGTTCGTC NM_000251.1(MSH2):c.268_289dupAAAGATCTTCTTCTGGTTCGTC MMR duplication exon 1 MMR_c.277C>T NM_000251.1(MSH2):c.277C>T MMR substitution exon 1 MMR_c.277_279delCTT NM_000251.1(MSH2):c.277_279delCTT MMR deletion exon 1 MMR_c.278T>C NM_000251.1(MSH2):c.278T>C MMR substitution exon 1 MMR_c.279_281delTCT NM_000251.1(MSH2):c.279_281delTCT MMR deletion exon 1 MMR_c.287G>A NM_000251.1(MSH2):c.287G>A MMR substitution exon 1 MMR_c.289C>T NM_000251.1(MSH2):c.289C>T MMR substitution exon 1 MMR_c.293A>G NM_000251.1(MSH2):c.293A>G MMR substitution exon 1 MMR_c.297_302delAGTTGA NM_000251.1(MSH2):c.297_302delAGTTGA MMR deletion exon 1 MMR_c.329A>G NM_000251.1(MSH2):c.329A>G MMR substitution exon 1 MMR_c.339G>A NM_000251.1(MSH2):c.339G>A MMR substitution exon 1 MMR_c.344delA NM_000251.1(MSH2):c.344delA MMR deletion exon 1 MMR_c.295A>C NM_000251.1(MSH2):c.295A>C MMR substitution exon 1 MMR_c.212-?_645+?del NM_000251.1(MSH2):c.212-?_645+?del MMR deletion not within known transcription unit 0 MMR_c.296delG NM_000251.1(MSH2):c.296delG MMR deletion exon 1 MMR_c.214-?_1076+?del NM_000251.1(MSH2):c.214-?_1076+?del MMR deletion not within known transcription unit 0 MMR_c.255dupT NM_000251.1(MSH2):c.255dupT MMR duplication exon 1 MMR_c.363T>G NM_000251.1(MSH2):c.363T>G MMR substitution exon 1 MMR_c.308A>G NM_000251.1(MSH2):c.308A>G MMR substitution exon 1 MMR_c.278_279delTT NM_000251.1(MSH2):c.278_279delTT MMR deletion exon 1 MMR_c.263_264delTT NM_000251.1(MSH2):c.263_264delTT MMR deletion exon 1 MMR_c.212-?_2458+?del NM_000251.1(MSH2):c.212-?_2458+?del MMR deletion not within known transcription unit 0 MMR_c.255_256delTG NM_000251.1(MSH2):c.255_256delTG MMR deletion exon 1 MMR_c.317G>A NM_000251.1(MSH2):c.317G>A MMR substitution exon 1 MMR_c.327T>C NM_000251.1(MSH2):c.327T>C MMR substitution exon 1 MMR_c.301G>T NM_000251.1(MSH2):c.301G>T MMR substitution exon 1 MMR_c.595T>C NM_000251.1(MSH2):c.595T>C MMR substitution exon 1 MMR_c.366+22delT NM_000251.1(MSH2):c.366+22delT MMR deletion intron 1 MMR_c.366+43G>A NM_000251.1(MSH2):c.366+43G>A MMR substitution intron 1 MMR_c.366+53A>G NM_000251.1(MSH2):c.366+53A>G MMR substitution intron 1 MMR_c.366+1G>T NM_000251.1(MSH2):c.366+1G>T MMR substitution intron 1 MMR_c.367-1G>A NM_000251.1(MSH2):c.367-1G>A MMR substitution intron 1 MMR_c.367-16delT NM_000251.1(MSH2):c.367-16delT MMR deletion intron 1 MMR_c.367-?_645+?del NM_000251.1(MSH2):c.367-?_645+?del MMR deletion not within known transcription unit 0 MMR_c.[1-?_1076+?del]+367-?_645+?del] NM_000251.1(MSH2):c.[1-?_1076+?del]+367-?_645+?del] MMR deletion not within known transcription unit 0 MMR_c.367-?_942+?del NM_000251.1(MSH2):c.367-?_942+?del MMR deletion not within known transcription unit 0 MMR_c.367-?_1386+?del NM_000251.1(MSH2):c.367-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.368delC NM_000251.1(MSH2):c.368delC MMR deletion exon 1 MMR_c.380_381delAT NM_000251.1(MSH2):c.380_381delAT MMR deletion exon 1 MMR_c.380A>G NM_000251.1(MSH2):c.380A>G MMR substitution exon 1 MMR_c.387_388delTC NM_000251.1(MSH2):c.387_388delTC MMR deletion exon 1 MMR_c.388_389delCA NM_000251.1(MSH2):c.388_389delCA MMR deletion exon 1 MMR_c.399C>T NM_000251.1(MSH2):c.399C>T MMR substitution exon 1 MMR_c.399delC NM_000251.1(MSH2):c.399delC MMR deletion exon 1 MMR_c.408delT NM_000251.1(MSH2):c.408delT MMR deletion exon 1 MMR_c.416delA NM_000251.1(MSH2):c.416delA MMR deletion exon 1 MMR_c.425C>G NM_000251.1(MSH2):c.425C>G MMR substitution exon 1 MMR_c.435T>G NM_000251.1(MSH2):c.435T>G MMR substitution exon 1 MMR_c.459C>T NM_000251.1(MSH2):c.459C>T MMR substitution exon 1 MMR_c.471C>A NM_000251.1(MSH2):c.471C>A MMR substitution exon 1 MMR_c.472C>T NM_000251.1(MSH2):c.472C>T MMR substitution exon 1 MMR_c.478C>T NM_000251.1(MSH2):c.478C>T MMR substitution exon 1 MMR_c.482T>A NM_000251.1(MSH2):c.482T>A MMR substitution exon 1 MMR_c.484G>A NM_000251.1(MSH2):c.484G>A MMR substitution exon 1 MMR_c.488T>A NM_000251.1(MSH2):c.488T>A MMR substitution exon 1 MMR_c.490G>T NM_000251.1(MSH2):c.490G>T MMR substitution exon 1 MMR_c.495T>G NM_000251.1(MSH2):c.495T>G MMR substitution exon 1 MMR_c.499G>C NM_000251.1(MSH2):c.499G>C MMR substitution exon 1 MMR_c.505A>G NM_000251.1(MSH2):c.505A>G MMR substitution exon 1 MMR_c.506_509delTACA NM_000251.1(MSH2):c.506_509delTACA MMR deletion exon 1 MMR_c.508C>T NM_000251.1(MSH2):c.508C>T MMR substitution exon 1 MMR_c.511_583dup NM_000251.1(MSH2):c.511_583dup MMR duplication exon 1 MMR_c.512G>A NM_000251.1(MSH2):c.512G>A MMR substitution exon 1 MMR_c.513delG NM_000251.1(MSH2):c.513delG MMR deletion exon 1 MMR_c.517_528delCTAGGACTGTGTinsA NM_000251.1(MSH2):c.517_528delCTAGGACTGTGTinsA MMR complex exon 1 MMR_c.518delT NM_000251.1(MSH2):c.518delT MMR deletion exon 1 MMR_c.524T>C NM_000251.1(MSH2):c.524T>C MMR substitution exon 1 MMR_c.523_564del NM_000251.1(MSH2):c.523_564del MMR deletion exon 1 MMR_c.530_531delAA NM_000251.1(MSH2):c.530_531delAA MMR deletion exon 1 MMR_c.547C>T NM_000251.1(MSH2):c.547C>T MMR substitution exon 1 MMR_c.546_564dupTCAGTTCTCCAATCTTGAG NM_000251.1(MSH2):c.546_564dupTCAGTTCTCCAATCTTGAG MMR duplication exon 1 MMR_c.560T>G NM_000251.1(MSH2):c.560T>G MMR substitution exon 1 MMR_c.569_570delTCinsCT NM_000251.1(MSH2):c.569_570delTCinsCT MMR complex exon 1 MMR_c.561_569delTGAGGCTCT NM_000251.1(MSH2):c.561_569delTGAGGCTCT MMR deletion exon 1 MMR_c.573C>T NM_000251.1(MSH2):c.573C>T MMR substitution exon 1 MMR_c.577C>T NM_000251.1(MSH2):c.577C>T MMR substitution exon 1 MMR_c.587delC NM_000251.1(MSH2):c.587delC MMR deletion exon 1 MMR_c.592dupG NM_000251.1(MSH2):c.592dupG MMR duplication exon 1 MMR_c.606C>T NM_000251.1(MSH2):c.606C>T MMR substitution exon 1 MMR_c.610G>T NM_000251.1(MSH2):c.610G>T MMR substitution exon 1 MMR_c.613G>T NM_000251.1(MSH2):c.613G>T MMR substitution exon 1 MMR_c.616dupA NM_000251.1(MSH2):c.616dupA MMR duplication exon 1 MMR_c.619G>T NM_000251.1(MSH2):c.619G>T MMR substitution exon 1 MMR_c.623delG NM_000251.1(MSH2):c.623delG MMR deletion exon 1 MMR_c.638_639delTG NM_000251.1(MSH2):c.638_639delTG MMR deletion exon 1 MMR_c.643C>T NM_000251.1(MSH2):c.643C>T MMR substitution exon 1 MMR_complex_26 NM_000251.1(MSH2):c.[643C>T]+[1571G>C] MMR substitution exon 1 MMR_c.367-?_1076+?del NM_000251.1(MSH2):c.367-?_1076+?del MMR deletion not within known transcription unit 0 MMR_c.529G>T NM_000251.1(MSH2):c.529G>T MMR substitution exon 1 MMR_c.367-?_1759+?del NM_000251.1(MSH2):c.367-?_1759+?del MMR deletion not within known transcription unit 0 MMR_complex_27 NM_000251.1(MSH2):c.[380A>G(+)1264G>T] MMR substitution exon 1 MMR_c.490G>A NM_000251.1(MSH2):c.490G>A MMR substitution exon 1 MMR_c.518T>C NM_000251.1(MSH2):c.518T>C MMR substitution exon 1 MMR_c.583_584ins73 NM_000251.1(MSH2):c.583_584ins73 MMR insertion exon 1 MMR_c.560T>C NM_000251.1(MSH2):c.560T>C MMR substitution exon 1 MMR_c.565G>T NM_000251.1(MSH2):c.565G>T MMR substitution exon 1 MMR_c.454delA NM_000251.1(MSH2):c.454delA MMR deletion exon 1 MMR_c.367-452_646-722del2051 NM_000251.1(MSH2):c.367-452_646-722del2051 MMR deletion not within known transcription unit 1 MMR_c.593A>G NM_000251.1(MSH2):c.593A>G MMR substitution exon 1 MMR_c.518T>G NM_000251.1(MSH2):c.518T>G MMR substitution exon 1 MMR_c.485G>C NM_000251.1(MSH2):c.485G>C MMR substitution exon 1 MMR_c.347_350delATTG NM_000251.1(MSH2):c.347_350delATTG MMR deletion exon 1 MMR_c.367-?_1276+?del NM_000251.1(MSH2):c.367-?_1276+?del MMR deletion not within known transcription unit 0 MMR_c.642_645delACAG NM_000251.1(MSH2):c.642_645delACAG MMR deletion exon 1 MMR_c.551delT NM_000251.1(MSH2):c.551delT MMR deletion exon 1 MMR_c.596G>A NM_000251.1(MSH2):c.596G>A MMR substitution exon 1 MMR_c.529G>A NM_000251.1(MSH2):c.529G>A MMR substitution exon 1 MMR_complex_28 NM_000251.1(MSH2):c.[380A>T(+)1661+12G>A(+)2006-6T>C] MMR substitution not within known transcription unit 1 MMR_complex_29 NM_000251.1(MSH2):c.[505A>G(+)1661+12G>A(+)2006-6T>C] MMR substitution not within known transcription unit 1 MMR_c.645+1G>A NM_000251.1(MSH2):c.645+1G>A MMR substitution intron 1 MMR_c.646-3_654delTAGATAATTCAA NM_000251.1(MSH2):c.646-3_654delTAGATAATTCAA MMR deletion not within known transcription unit 1 MMR_c.646-3T>G NM_000251.1(MSH2):c.646-3T>G MMR substitution intron 1 MMR_c.645+1G>T NM_000251.1(MSH2):c.645+1G>T MMR substitution intron 1 MMR_c.646-?_792+?del NM_000251.1(MSH2):c.646-?_792+?del MMR deletion not within known transcription unit 0 MMR_c.646-?_1076+?del NM_000251.1(MSH2):c.646-?_1076+?del MMR deletion not within known transcription unit 0 MMR_c.646-?_1276+?del NM_000251.1(MSH2):c.646-?_1276+?del MMR deletion not within known transcription unit 0 MMR_c.792-?_1386+?del NM_000251.1(MSH2):c.792-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.646-?_2802+?del NM_000251.1(MSH2):c.646-?_2802+?del MMR deletion not within known transcription unit 0 MMR_c.646A>G NM_000251.1(MSH2):c.646A>G MMR substitution exon 1 MMR_c.650_654delTTCAA NM_000251.1(MSH2):c.650_654delTTCAA MMR deletion exon 1 MMR_c.687delA NM_000251.1(MSH2):c.687delA MMR deletion exon 1 MMR_c.687dupA NM_000251.1(MSH2):c.687dupA MMR duplication exon 1 MMR_c.696_697delTT NM_000251.1(MSH2):c.696_697delTT MMR deletion exon 1 MMR_c.704_705delAA NM_000251.1(MSH2):c.704_705delAA MMR deletion exon 1 MMR_c.711_714delTTAT NM_000251.1(MSH2):c.711_714delTTAT MMR deletion exon 1 MMR_c.715C>T NM_000251.1(MSH2):c.715C>T MMR substitution exon 1 MMR_c.717_721delGGACCinsTTA NM_000251.1(MSH2):c.717_721delGGACCinsTTA MMR complex exon 1 MMR_c.735dupG NM_000251.1(MSH2):c.735dupG MMR duplication exon 1 MMR_c.736A>C NM_000251.1(MSH2):c.736A>C MMR substitution exon 1 MMR_c.746delA NM_000251.1(MSH2):c.746delA MMR deletion exon 1 MMR_c.754C>T NM_000251.1(MSH2):c.754C>T MMR substitution exon 1 MMR_c.759delG NM_000251.1(MSH2):c.759delG MMR deletion exon 1 MMR_c.763_766delAGTGinsTT NM_000251.1(MSH2):c.763_766delAGTGinsTT MMR complex exon 1 MMR_c.782T>C NM_000251.1(MSH2):c.782T>C MMR substitution exon 1 MMR_c.788_789delAT NM_000251.1(MSH2):c.788_789delAT MMR deletion exon 1 MMR_c.728G>A NM_000251.1(MSH2):c.728G>A MMR substitution exon 1 MMR_complex_30 NM_000251.1(MSH2):c.[658G>T(+)1786_1788delAAT] MMR complex exon 1 MMR_c.782delT NM_000251.1(MSH2):c.782delT MMR deletion exon 1 MMR_c.759_762delGAAT NM_000251.1(MSH2):c.759_762delGAAT MMR deletion exon 1 MMR_c.709A>G NM_000251.1(MSH2):c.709A>G MMR substitution exon 1 MMR_c.646-?_942+?del NM_000251.1(MSH2):c.646-?_942+?del MMR deletion not within known transcription unit 0 MMR_c.736A>T NM_000251.1(MSH2):c.736A>T MMR substitution exon 1 MMR_c.705delA NM_000251.1(MSH2):c.705delA MMR deletion exon 1 MMR_c.793-29A>T NM_000251.1(MSH2):c.793-29A>T MMR substitution intron 1 MMR_c.793-2A>C NM_000251.1(MSH2):c.793-2A>C MMR substitution intron 1 MMR_c.792+1G>A NM_000251.1(MSH2):c.792+1G>A MMR substitution intron 1 MMR_c.792+5A>G NM_000251.1(MSH2):c.792+5A>G MMR substitution intron 1 MMR_c.793-6_943+450del NM_000251.1(MSH2):c.793-6_943+450del MMR deletion not within known transcription unit 1 MMR_c.793-?_942+?del NM_000251.1(MSH2):c.793-?_942+?del MMR deletion not within known transcription unit 0 MMR_c.793-?_1076-?del NM_000251.1(MSH2):c.793-?_1076-?del MMR deletion not within known transcription unit 0 MMR_c.795delT NM_000251.1(MSH2):c.795delT MMR deletion exon 1 MMR_c.808_811delCTGT NM_000251.1(MSH2):c.808_811delCTGT MMR deletion exon 1 MMR_c.810_811delGT NM_000251.1(MSH2):c.810_811delGT MMR deletion exon 1 MMR_c.815C>T NM_000251.1(MSH2):c.815C>T MMR substitution exon 1 MMR_c.817_818delGTinsAA NM_000251.1(MSH2):c.817_818delGTinsAA MMR complex exon 1 MMR_c.836_838delTCT NM_000251.1(MSH2):c.836_838delTCT MMR deletion exon 1 MMR_c.839dupT NM_000251.1(MSH2):c.839dupT MMR duplication exon 1 MMR_c.840delA NM_000251.1(MSH2):c.840delA MMR deletion exon 1 MMR_c.842C>G NM_000251.1(MSH2):c.842C>G MMR substitution exon 1 MMR_c.847G>T NM_000251.1(MSH2):c.847G>T MMR substitution exon 1 MMR_c.854delA NM_000251.1(MSH2):c.854delA MMR deletion exon 1 MMR_c.862C>T NM_000251.1(MSH2):c.862C>T MMR substitution exon 1 MMR_c.892C>T NM_000251.1(MSH2):c.892C>T MMR substitution exon 1 MMR_c.901A>T NM_000251.1(MSH2):c.901A>T MMR substitution exon 1 MMR_c.905T>A NM_000251.1(MSH2):c.905T>A MMR substitution exon 1 MMR_c.913G>A NM_000251.1(MSH2):c.913G>A MMR substitution exon 1 MMR_c.929T>C NM_000251.1(MSH2):c.929T>C MMR substitution exon 1 MMR_c.934delC NM_000251.1(MSH2):c.934delC MMR deletion exon 1 MMR_c.881_882delTT NM_000251.1(MSH2):c.881_882delTT MMR deletion exon 1 MMR_c.793-?_1076-?dup NM_000251.1(MSH2):c.793-?_1076-?dup MMR duplication not within known transcription unit 0 MMR_c.795T>C NM_000251.1(MSH2):c.795T>C MMR substitution exon 1 MMR_c.807dupA NM_000251.1(MSH2):c.807dupA MMR duplication exon 1 MMR_c.836delT NM_000251.1(MSH2):c.836delT MMR deletion exon 1 MMR_c.915_922dupAGCAGTCA NM_000251.1(MSH2):c.915_922dupAGCAGTCA MMR duplication exon 1 MMR_c.793-?_1386+?del NM_000251.1(MSH2):c.793-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.806C>T NM_000251.1(MSH2):c.806C>T MMR substitution exon 1 MMR_c.810_813delGTCT NM_000251.1(MSH2):c.810_813delGTCT MMR deletion exon 1 MMR_c.859G>T NM_000251.1(MSH2):c.859G>T MMR substitution exon 1 MMR_c.898_899dupAT NM_000251.1(MSH2):c.898_899dupAT MMR duplication exon 1 MMR_c.942+3A>T NM_000251.1(MSH2):c.942+3A>T MMR substitution intron 1 MMR_c.943-1G>C NM_000251.1(MSH2):c.943-1G>C MMR substitution intron 1 MMR_c.943-1G>A NM_000251.1(MSH2):c.943-1G>A MMR substitution intron 1 MMR_c.943-?_1076+?del NM_000251.1(MSH2):c.943-?_1076+?del MMR deletion not within known transcription unit 0 MMR_c.958dupA NM_000251.1(MSH2):c.958dupA MMR duplication exon 1 MMR_c.965G>A NM_000251.1(MSH2):c.965G>A MMR substitution exon 1 MMR_c.968C>G NM_000251.1(MSH2):c.968C>G MMR substitution exon 1 MMR_c.968C>A NM_000251.1(MSH2):c.968C>A MMR substitution exon 1 MMR_c.970_971delCA NM_000251.1(MSH2):c.970_971delCA MMR deletion exon 1 MMR_c.972G>A NM_000251.1(MSH2):c.972G>A MMR substitution exon 1 MMR_c.972_973ins184 NM_000251.1(MSH2):c.972_973ins184 MMR insertion exon 1 MMR_c.973dupT NM_000251.1(MSH2):c.973dupT MMR duplication exon 1 MMR_c.984C>T NM_000251.1(MSH2):c.984C>T MMR substitution exon 1 MMR_c.989T>C NM_000251.1(MSH2):c.989T>C MMR substitution exon 1 MMR_c.997T>C NM_000251.1(MSH2):c.997T>C MMR substitution exon 1 MMR_c.1004C>T NM_000251.1(MSH2):c.1004C>T MMR substitution exon 1 MMR_c.1004_1007delCCCC NM_000251.1(MSH2):c.1004_1007delCCCC MMR deletion exon 1 MMR_c.1006C>T NM_000251.1(MSH2):c.1006C>T MMR substitution exon 1 MMR_c.1009C>T NM_000251.1(MSH2):c.1009C>T MMR substitution exon 1 MMR_c.1017_1018delAA NM_000251.1(MSH2):c.1017_1018delAA MMR deletion exon 1 MMR_c.1024G>A NM_000251.1(MSH2):c.1024G>A MMR substitution exon 1 MMR_c.1030C>T NM_000251.1(MSH2):c.1030C>T MMR substitution exon 1 MMR_c.1035G>A NM_000251.1(MSH2):c.1035G>A MMR substitution exon 1 MMR_c.1037_1038dupTT NM_000251.1(MSH2):c.1037_1038dupTT MMR duplication exon 1 MMR_c.1077A>T NM_000251.1(MSH2):c.1077A>T MMR substitution exon 1 MMR_c.1076G>T NM_000251.1(MSH2):c.1076G>T MMR substitution exon 1 MMR_c.998G>A NM_000251.1(MSH2):c.998G>A MMR substitution exon 1 MMR_c.1022T>C NM_000251.1(MSH2):c.1022T>C MMR substitution exon 1 MMR_c.970C>T NM_000251.1(MSH2):c.970C>T MMR substitution exon 1 MMR_c.1034G>A NM_000251.1(MSH2):c.1034G>A MMR substitution exon 1 MMR_c.1012G>A NM_000251.1(MSH2):c.1012G>A MMR substitution exon 1 MMR_c.991A>G NM_000251.1(MSH2):c.991A>G MMR substitution exon 1 MMR_c.1045C>G NM_000251.1(MSH2):c.1045C>G MMR substitution exon 1 MMR_c.1077-10T>C NM_000251.1(MSH2):c.1077-10T>C MMR substitution intron 1 MMR_c.1076+3400C>T NM_000251.1(MSH2):c.1076+3400C>T MMR substitution intron 1 MMR_c.1077-80G>A NM_000251.1(MSH2):c.1077-80G>A MMR substitution intron 1 MMR_c.1077-2037G>T NM_000251.1(MSH2):c.1077-2037G>T MMR substitution intron 1 MMR_c.1076+1G>T NM_000251.1(MSH2):c.1076+1G>T MMR substitution intron 1 MMR_c.1076+1G>A NM_000251.1(MSH2):c.1076+1G>A MMR substitution intron 1 MMR_c.1076+3A>T NM_000251.1(MSH2):c.1076+3A>T MMR substitution intron 1 MMR_c.1077-35A>G NM_000251.1(MSH2):c.1077-35A>G MMR substitution intron 1 MMR_c.1077-2A>C NM_000251.1(MSH2):c.1077-2A>C MMR substitution intron 1 MMR_c.1077-2A>G NM_000251.1(MSH2):c.1077-2A>G MMR substitution intron 1 MMR_c.1077-2A>T NM_000251.1(MSH2):c.1077-2A>T MMR substitution intron 1 MMR_c.1077-1G>C NM_000251.1(MSH2):c.1077-1G>C MMR substitution intron 1 MMR_c.1077-?_1276+?del NM_000251.1(MSH2):c.1077-?_1276+?del MMR deletion not within known transcription unit 0 MMR_c.1077-?_1386+?del NM_000251.1(MSH2):c.1077-?_1386+?del MMR deletion not within known transcription unit 0 MMR_c.1077-?_1661+?del NM_000251.1(MSH2):c.1077-?_1661+?del MMR deletion not within known transcription unit 0 MMR_c.1077-?_2005+?del NM_000251.1(MSH2):c.1077-?_2005+?del MMR deletion not within known transcription unit 0 MMR_c.1076-?_2805+?del NM_000251.1(MSH2):c.1076-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.1097_1098insA NM_000251.1(MSH2):c.1097_1098insA MMR insertion exon 1 MMR_c.1108delG NM_000251.1(MSH2):c.1108delG MMR deletion exon 1 MMR_c.1119delG NM_000251.1(MSH2):c.1119delG MMR deletion exon 1 MMR_c.1120C>T NM_000251.1(MSH2):c.1120C>T MMR substitution exon 1 MMR_c.1127_1128dupTA NM_000251.1(MSH2):c.1127_1128dupTA MMR duplication exon 1 MMR_c.1132_1134delAAG NM_000251.1(MSH2):c.1132_1134delAAG MMR deletion exon 1 MMR_c.1139delT NM_000251.1(MSH2):c.1139delT MMR deletion exon 1 MMR_c.1144dupC NM_000251.1(MSH2):c.1144dupC MMR duplication exon 1 MMR_c.1147C>T NM_000251.1(MSH2):c.1147C>T MMR substitution exon 1 MMR_c.1160T>C NM_000251.1(MSH2):c.1160T>C MMR substitution exon 1 MMR_c.1168C>T NM_000251.1(MSH2):c.1168C>T MMR substitution exon 1 MMR_c.1183C>T NM_000251.1(MSH2):c.1183C>T MMR substitution exon 1 MMR_c.1182dupT NM_000251.1(MSH2):c.1182dupT MMR duplication exon 1 MMR_c.1189C>T NM_000251.1(MSH2):c.1189C>T MMR substitution exon 1 MMR_c.1192dupG NM_000251.1(MSH2):c.1192dupG MMR duplication exon 1 MMR_c.1196_1197dupCA NM_000251.1(MSH2):c.1196_1197dupCA MMR duplication exon 1 MMR_c.1204C>T NM_000251.1(MSH2):c.1204C>T MMR substitution exon 1 MMR_c.1204delC NM_000251.1(MSH2):c.1204delC MMR deletion exon 1 MMR_c.1216C>T NM_000251.1(MSH2):c.1216C>T MMR substitution exon 1 MMR_c.1221C>T NM_000251.1(MSH2):c.1221C>T MMR substitution exon 1 MMR_c.1222dupT NM_000251.1(MSH2):c.1222dupT MMR duplication exon 1 MMR_c.1224T>C NM_000251.1(MSH2):c.1224T>C MMR substitution exon 1 MMR_c.1226_1227delAG NM_000251.1(MSH2):c.1226_1227delAG MMR deletion exon 1 MMR_c.1235_1267del NM_000251.1(MSH2):c.1235_1267del MMR deletion exon 1 MMR_c.1243_1246delCCTA NM_000251.1(MSH2):c.1243_1246delCCTA MMR deletion exon 1 MMR_c.1243del4 NM_000251.1(MSH2):c.1243del4 MMR deletion exon 1 MMR_c.1249delG NM_000251.1(MSH2):c.1249delG MMR deletion exon 1 MMR_c.1255C>A NM_000251.1(MSH2):c.1255C>A MMR substitution exon 1 MMR_c.1255C>T NM_000251.1(MSH2):c.1255C>T MMR substitution exon 1 MMR_c.1269dupA NM_000251.1(MSH2):c.1269dupA MMR duplication exon 1 MMR_c.1275A>G NM_000251.1(MSH2):c.1275A>G MMR substitution exon 1 MMR_c.1264G>T NM_000251.1(MSH2):c.1264G>T MMR substitution exon 1 MMR_c.1215C>A NM_000251.1(MSH2):c.1215C>A MMR substitution exon 1 MMR_c.1222_1223insT NM_000251.1(MSH2):c.1222_1223insT MMR insertion exon 1 MMR_c.1215_1218dupCCGA NM_000251.1(MSH2):c.1215_1218dupCCGA MMR duplication exon 1 MMR_c.1129C>T NM_000251.1(MSH2):c.1129C>T MMR substitution exon 1 MMR_c.1223A>G NM_000251.1(MSH2):c.1223A>G MMR substitution exon 1 MMR_c.1086A>T NM_000251.1(MSH2):c.1086A>T MMR substitution exon 1 MMR_c.1261C>A NM_000251.1(MSH2):c.1261C>A MMR substitution exon 1 MMR_c.1203dupA NM_000251.1(MSH2):c.1203dupA MMR duplication exon 1 MMR_c.1216_1219dupCGAC NM_000251.1(MSH2):c.1216_1219dupCGAC MMR duplication exon 1 MMR_c.1387-?_1510+?del NM_000251.1(MSH2):c.1387-?_1510+?del MMR deletion not within known transcription unit 0 MMR_c.1225C>A NM_000251.1(MSH2):c.1225C>A MMR substitution exon 1 MMR_c.1145G>A NM_000251.1(MSH2):c.1145G>A MMR substitution exon 1 MMR_c.1277-1G>A NM_000251.1(MSH2):c.1277-1G>A MMR substitution intron 1 MMR_c.1277-5849T>C NM_000251.1(MSH2):c.1277-5849T>C MMR substitution intron 1 MMR_c.1277-945A>C NM_000251.1(MSH2):c.1277-945A>C MMR substitution intron 1 MMR_c.1277-212T>A NM_000251.1(MSH2):c.1277-212T>A MMR substitution intron 1 MMR_c.1277-118G>A NM_000251.1(MSH2):c.1277-118G>A MMR substitution intron 1 MMR_c.1276+6765G>A NM_000251.1(MSH2):c.1276+6765G>A MMR substitution intron 1 MMR_c.1277-2A>G NM_000251.1(MSH2):c.1277-2A>G MMR substitution intron 1 MMR_c.1276+1G>T NM_000251.1(MSH2):c.1276+1G>T MMR substitution intron 1 MMR_c.1276+47T>A NM_000251.1(MSH2):c.1276+47T>A MMR substitution intron 1 MMR_c.1277-14C>G NM_000251.1(MSH2):c.1277-14C>G MMR substitution intron 1 MMR_c.1277-10T>C NM_000251.1(MSH2):c.1277-10T>C MMR substitution intron 1 MMR_c.1277-1G>C NM_000251.1(MSH2):c.1277-1G>C MMR substitution intron 1 MMR_c.1276+2T>A NM_000251.1(MSH2):c.1276+2T>A MMR substitution intron 1 MMR_c.1276+1G>A NM_000251.1(MSH2):c.1276+1G>A MMR substitution intron 1 MMR_c.1277-2A>C NM_000251.1(MSH2):c.1277-2A>C MMR substitution intron 1 MMR_c.1277-?_2634+?del NM_000251.1(MSH2):c.1277-?_2634+?del MMR deletion not within known transcription unit 0 MMR_c.1277-?_2805+?inv NM_000251.1(MSH2):c.1277-?_2805+?inv MMR complex not within known transcription unit 0 MMR_c.1277-?_2805+?del NM_000251.1(MSH2):c.1277-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.1285C>T NM_000251.1(MSH2):c.1285C>T MMR substitution exon 1 MMR_c.1287dupG NM_000251.1(MSH2):c.1287dupG MMR duplication exon 1 MMR_c.1288A>T NM_000251.1(MSH2):c.1288A>T MMR substitution exon 1 MMR_c.1292T>A NM_000251.1(MSH2):c.1292T>A MMR substitution exon 1 MMR_c.1315_1317delCCT NM_000251.1(MSH2):c.1315_1317delCCT MMR deletion exon 1 MMR_c.1316_1317delCT NM_000251.1(MSH2):c.1316_1317delCT MMR deletion exon 1 MMR_c.1340_1341insGG NM_000251.1(MSH2):c.1340_1341insGG MMR insertion exon 1 MMR_c.1339T>G NM_000251.1(MSH2):c.1339T>G MMR substitution exon 1 MMR_c.1345A>T NM_000251.1(MSH2):c.1345A>T MMR substitution exon 1 MMR_c.1352_1353delAG NM_000251.1(MSH2):c.1352_1353delAG MMR deletion exon 1 MMR_c.1358T>A NM_000251.1(MSH2):c.1358T>A MMR substitution exon 1 MMR_c.1373T>G NM_000251.1(MSH2):c.1373T>G MMR substitution exon 1 MMR_c.1277-?_1661+?del NM_000251.1(MSH2):c.1277-?_1661+?del MMR deletion not within known transcription unit 0 MMR_c.1277-?_1759+?del NM_000251.1(MSH2):c.1277-?_1759+?del MMR deletion not within known transcription unit 0 MMR_c.1319_1326delTTACTGATinsCC NM_000251.1(MSH2):c.1319_1326delTTACTGATinsCC MMR complex exon 1 MMR_c.1321dupA NM_000251.1(MSH2):c.1321dupA MMR duplication exon 1 MMR_c.1356A>G NM_000251.1(MSH2):c.1356A>G MMR substitution exon 1 MMR_c.1354G>T NM_000251.1(MSH2):c.1354G>T MMR substitution exon 1 MMR_c.1345_1348delAAGT NM_000251.1(MSH2):c.1345_1348delAAGT MMR deletion exon 1 MMR_c.1387-250G>A NM_000251.1(MSH2):c.1387-250G>A MMR substitution intron 1 MMR_complex_31 NM_000251.1(MSH2):c.[1387-8G>T(+)1737A>G] MMR substitution not within known transcription unit 1 MMR_c.1387-1G>T NM_000251.1(MSH2):c.1387-1G>T MMR substitution intron 1 MMR_c.1387-8G>T NM_000251.1(MSH2):c.1387-8G>T MMR substitution intron 1 MMR_c.1386+1G>T NM_000251.1(MSH2):c.1386+1G>T MMR substitution intron 1 MMR_c.1386+73G>A NM_000251.1(MSH2):c.1386+73G>A MMR substitution intron 1 MMR_c.1386+1G>C NM_000251.1(MSH2):c.1386+1G>C MMR substitution intron 1 MMR_c.1386+1G>A NM_000251.1(MSH2):c.1386+1G>A MMR substitution intron 1 MMR_c.1387-?_1661+?del NM_000251.1(MSH2):c.1387-?_1661+?del MMR deletion not within known transcription unit 0 MMR_c.1387-?_2458+?del NM_000251.1(MSH2):c.1387-?_2458+?del MMR deletion not within known transcription unit 0 MMR_c.1387-?_2805+?del NM_000251.1(MSH2):c.1387-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.1408delG NM_000251.1(MSH2):c.1408delG MMR deletion exon 1 MMR_c.1418C>G NM_000251.1(MSH2):c.1418C>G MMR substitution exon 1 MMR_c.1418C>T NM_000251.1(MSH2):c.1418C>T MMR substitution exon 1 MMR_c.1442_1445dupTAAG NM_000251.1(MSH2):c.1442_1445dupTAAG MMR duplication exon 1 MMR_c.1444dupA NM_000251.1(MSH2):c.1444dupA MMR duplication exon 1 MMR_c.1444delA NM_000251.1(MSH2):c.1444delA MMR deletion exon 1 MMR_c.1452_1455delAATG NM_000251.1(MSH2):c.1452_1455delAATG MMR deletion exon 1 MMR_c.1457delA NM_000251.1(MSH2):c.1457delA MMR deletion exon 1 MMR_c.1476_1477delinsCT NM_000251.1(MSH2):c.1476_1477delinsCT MMR complex exon 1 MMR_c.1477C>T NM_000251.1(MSH2):c.1477C>T MMR substitution exon 1 MMR_c.1497delA NM_000251.1(MSH2):c.1497delA MMR deletion exon 1 MMR_c.1510G>C NM_000251.1(MSH2):c.1510G>C MMR substitution exon 1 MMR_c.1494dupT NM_000251.1(MSH2):c.1494dupT MMR duplication exon 1 MMR_c.1387-3976_1662-364del11547 NM_000251.1(MSH2):c.1387-3976_1662-364del11547 MMR deletion not within known transcription unit 1 MMR_c.1447_1448delGA NM_000251.1(MSH2):c.1447_1448delGA MMR deletion exon 1 MMR_c.1447G>T NM_000251.1(MSH2):c.1447G>T MMR substitution exon 1 MMR_complex_32 NM_000251.1(MSH2):c.[1487T>A(+)2240_2241delTA] MMR complex exon 1 MMR_c.1487T>A NM_000251.1(MSH2):c.1487T>A MMR substitution exon 1 MMR_c.1409T>A NM_000251.1(MSH2):c.1409T>A MMR substitution exon 1 MMR_c.1488A>G NM_000251.1(MSH2):c.1488A>G MMR substitution exon 1 MMR_c.1445_1449delGAGAA NM_000251.1(MSH2):c.1445_1449delGAGAA MMR deletion exon 1 MMR_c.1511-9A>T NM_000251.1(MSH2):c.1511-9A>T MMR substitution intron 1 MMR_complex_33 NM_000251.1(MSH2):c.[1511-9A>T;1661+12G>A] MMR substitution intron 1 MMR_c.1511-91G>T NM_000251.1(MSH2):c.1511-91G>T MMR substitution intron 1 MMR_c.1511-1516C>T NM_000251.1(MSH2):c.1511-1516C>T MMR substitution intron 1 MMR_c.1511-2A>G NM_000251.1(MSH2):c.1511-2A>G MMR substitution intron 1 MMR_c.1511-8T>G NM_000251.1(MSH2):c.1511-8T>G MMR substitution intron 1 MMR_c.1511-1G>T NM_000251.1(MSH2):c.1511-1G>T MMR substitution intron 1 MMR_c.1516G>T NM_000251.1(MSH2):c.1516G>T MMR substitution exon 1 MMR_c.1552C>T NM_000251.1(MSH2):c.1552C>T MMR substitution exon 1 MMR_c.1552_1553delCA NM_000251.1(MSH2):c.1552_1553delCA MMR deletion exon 1 MMR_c.1563T>C NM_000251.1(MSH2):c.1563T>C MMR substitution exon 1 MMR_c.1566C>G NM_000251.1(MSH2):c.1566C>G MMR substitution exon 1 MMR_c.1571G>C NM_000251.1(MSH2):c.1571G>C MMR substitution exon 1 MMR_c.1576delA NM_000251.1(MSH2):c.1576delA MMR deletion exon 1 MMR_c.1578delC NM_000251.1(MSH2):c.1578delC MMR deletion exon 1 MMR_c.1587delA NM_000251.1(MSH2):c.1587delA MMR deletion exon 1 MMR_c.1585delG NM_000251.1(MSH2):c.1585delG MMR deletion exon 1 MMR_c.1594dupG NM_000251.1(MSH2):c.1594dupG MMR duplication exon 1 MMR_c.1627delG NM_000251.1(MSH2):c.1627delG MMR deletion exon 1 MMR_c.1638_1639dupGA NM_000251.1(MSH2):c.1638_1639dupGA MMR duplication exon 1 MMR_c.1654A>C NM_000251.1(MSH2):c.1654A>C MMR substitution exon 1 MMR_c.1660A>C NM_000251.1(MSH2):c.1660A>C MMR substitution exon 1 MMR_c.1661G>C NM_000251.1(MSH2):c.1661G>C MMR substitution exon 1 MMR_complex_34 NM_000251.1(MSH2):c.[1661G>C(+)1661+12G>A] MMR substitution not within known transcription unit 1 MMR_c.1642G>T NM_000251.1(MSH2):c.1642G>T MMR substitution exon 1 MMR_c.1511-?_2005+?del NM_000251.1(MSH2):c.1511-?_2005+?del MMR deletion not within known transcription unit 0 MMR_c.1661+12G>A NM_000251.1(MSH2):c.1661+12G>A MMR substitution intron 1 MMR_c.1569delT NM_000251.1(MSH2):c.1569delT MMR deletion exon 1 MMR_c.1600C>T NM_000251.1(MSH2):c.1600C>T MMR substitution exon 1 MMR_c.1660A>G NM_000251.1(MSH2):c.1660A>G MMR substitution exon 1 MMR_c.1593_1613delAGTCCTTCGTAACAATAAAAA NM_000251.1(MSH2):c.1593_1613delAGTCCTTCGTAACAATAAAAA MMR deletion exon 1 MMR_c.1571G>T NM_000251.1(MSH2):c.1571G>T MMR substitution exon 1 MMR_c.1602T>A NM_000251.1(MSH2):c.1602T>A MMR substitution exon 1 MMR_c.1660A>T NM_000251.1(MSH2):c.1660A>T MMR substitution exon 1 MMR_c.1567T>A NM_000251.1(MSH2):c.1567T>A MMR substitution exon 1 MMR_c.1640A>G NM_000251.1(MSH2):c.1640A>G MMR substitution exon 1 MMR_c.1522G>A NM_000251.1(MSH2):c.1522G>A MMR substitution exon 1 MMR_c.1560A>G NM_000251.1(MSH2):c.1560A>G MMR substitution exon 1 MMR_c.1661+90T>C NM_000251.1(MSH2):c.1661+90T>C MMR substitution intron 1 MMR_complex_35 NM_000251.1(MSH2):c.[1661+12G>A]+[1661+12G>A] MMR substitution intron 1 MMR_complex_36 NM_000251.1(MSH2):c.[1661+12G>A(+)2006-6T>C] MMR substitution intron 1 MMR_c.1661+1G>T NM_000251.1(MSH2):c.1661+1G>T MMR substitution intron 1 MMR_c.1662-1G>A NM_000251.1(MSH2):c.1662-1G>A MMR substitution intron 1 MMR_c.1662-2A>G NM_000251.1(MSH2):c.1662-2A>G MMR substitution intron 1 MMR_c.1661+1G>A NM_000251.1(MSH2):c.1661+1G>A MMR substitution intron 1 MMR_complex_37 NM_000251.1(MSH2):c.[1661+12G>A(+)1661G>C] MMR substitution not within known transcription unit 1 MMR_c.1661+5G>C NM_000251.1(MSH2):c.1661+5G>C MMR substitution intron 1 MMR_c.1705_1706delGA NM_000251.1(MSH2):c.1705_1706delGA MMR deletion exon 1 MMR_c.1661+6C>T NM_000251.1(MSH2):c.1661+6C>T MMR substitution intron 1 MMR_c.1662-9G>A NM_000251.1(MSH2):c.1662-9G>A MMR substitution intron 1 MMR_c.1662-?_2458+?del NM_000251.1(MSH2):c.1662-?_2458+?del MMR deletion not within known transcription unit 0 MMR_c.1666T>C NM_000251.1(MSH2):c.1666T>C MMR substitution exon 1 MMR_c.1662-?_1759+?del NM_000251.1(MSH2):c.1662-?_1759+?del MMR deletion not within known transcription unit 0 MMR_c.1681G>A NM_000251.1(MSH2):c.1681G>A MMR substitution exon 1 MMR_c.1737A>G NM_000251.1(MSH2):c.1737A>G MMR substitution exon 1 MMR_c.1738G>T NM_000251.1(MSH2):c.1738G>T MMR substitution exon 1 MMR_c.1668delG NM_000251.1(MSH2):c.1668delG MMR deletion exon 1 MMR_c.1662-?_2805+?del NM_000251.1(MSH2):c.1662-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.1669A>C NM_000251.1(MSH2):c.1669A>C MMR substitution exon 1 MMR_c.1662-?_2805+?dup NM_000251.1(MSH2):c.1662-?_2805+?dup MMR duplication not within known transcription unit 0 MMR_c.1667_1668insA NM_000251.1(MSH2):c.1667_1668insA MMR insertion exon 1 MMR_c.1672delT NM_000251.1(MSH2):c.1672delT MMR deletion exon 1 MMR_c.1676delT NM_000251.1(MSH2):c.1676delT MMR deletion exon 1 MMR_c.1679delA NM_000251.1(MSH2):c.1679delA MMR deletion exon 1 MMR_c.1683delA NM_000251.1(MSH2):c.1683delA MMR deletion exon 1 MMR_c.1685A>T NM_000251.1(MSH2):c.1685A>T MMR substitution exon 1 MMR_c.1688A>C NM_000251.1(MSH2):c.1688A>C MMR substitution exon 1 MMR_c.1690A>G NM_000251.1(MSH2):c.1690A>G MMR substitution exon 1 MMR_c.1696_1697delAA NM_000251.1(MSH2):c.1696_1697delAA MMR deletion exon 1 MMR_c.1700_1704delAAACA NM_000251.1(MSH2):c.1700_1704delAAACA MMR deletion exon 1 MMR_c.1704_1705delAG NM_000251.1(MSH2):c.1704_1705delAG MMR deletion exon 1 MMR_c.1705_1706dupGA NM_000251.1(MSH2):c.1705_1706dupGA MMR duplication exon 1 MMR_c.1706_1707insT NM_000251.1(MSH2):c.1706_1707insT MMR insertion exon 1 MMR_c.1706_1707delAA NM_000251.1(MSH2):c.1706_1707delAA MMR deletion exon 1 MMR_c.1720C>T NM_000251.1(MSH2):c.1720C>T MMR substitution exon 1 MMR_c.1720delC NM_000251.1(MSH2):c.1720delC MMR deletion exon 1 MMR_c.1741dupA NM_000251.1(MSH2):c.1741dupA MMR duplication exon 1 MMR_c.1755T>C NM_000251.1(MSH2):c.1755T>C MMR substitution exon 1 MMR_c.1759G>C NM_000251.1(MSH2):c.1759G>C MMR substitution exon 1 MMR_c.1753delT NM_000251.1(MSH2):c.1753delT MMR deletion exon 1 MMR_c.1665delA NM_000251.1(MSH2):c.1665delA MMR deletion exon 1 MMR_c.1737dupA NM_000251.1(MSH2):c.1737dupA MMR duplication exon 1 MMR_c.1730T>C NM_000251.1(MSH2):c.1730T>C MMR substitution exon 1 MMR_c.1717delG NM_000251.1(MSH2):c.1717delG MMR deletion exon 1 MMR_c.1699A>T NM_000251.1(MSH2):c.1699A>T MMR substitution exon 1 MMR_c.1759+501A>G NM_000251.1(MSH2):c.1759+501A>G MMR substitution intron 1 MMR_complex_38 NM_000251.1(MSH2):c.[1760-62G>A;1760-111_1760-109dupAGG] MMR complex intron 1 MMR_c.2006-6T>C NM_000251.1(MSH2):c.2006-6T>C MMR substitution intron 1 MMR_c.2006-265A>G NM_000251.1(MSH2):c.2006-265A>G MMR substitution intron 1 MMR_c.1759+2T>A NM_000251.1(MSH2):c.1759+2T>A MMR substitution intron 1 MMR_c.1939G>T NM_000251.1(MSH2):c.1939G>T MMR substitution exon 1 MMR_c.1886A>G NM_000251.1(MSH2):c.1886A>G MMR substitution exon 1 MMR_c.1896_1897insA NM_000251.1(MSH2):c.1896_1897insA MMR insertion exon 1 MMR_c.1787A>G NM_000251.1(MSH2):c.1787A>G MMR substitution exon 1 MMR_c.1979_1980delAT NM_000251.1(MSH2):c.1979_1980delAT MMR deletion exon 1 MMR_c.1906G>C NM_000251.1(MSH2):c.1906G>C MMR substitution exon 1 MMR_c.1786_1788delAAT NM_000251.1(MSH2):c.1786_1788delAAT MMR deletion exon 1 MMR_c.1881A>C NM_000251.1(MSH2):c.1881A>C MMR substitution exon 1 MMR_c.1915C>T NM_000251.1(MSH2):c.1915C>T MMR substitution exon 1 MMR_c.1777C>T NM_000251.1(MSH2):c.1777C>T MMR substitution exon 1 MMR_c.1858_1859dupGT NM_000251.1(MSH2):c.1858_1859dupGT MMR duplication exon 1 MMR_c.1801C>T NM_000251.1(MSH2):c.1801C>T MMR substitution exon 1 MMR_c.1788_1789delTG NM_000251.1(MSH2):c.1788_1789delTG MMR deletion exon 1 MMR_c.1865C>T NM_000251.1(MSH2):c.1865C>T MMR substitution exon 1 MMR_c.1864C>A NM_000251.1(MSH2):c.1864C>A MMR substitution exon 1 MMR_c.1760-?_2005+?del NM_000251.1(MSH2):c.1760-?_2005+?del MMR deletion not within known transcription unit 0 MMR_c.1760-?_2802+?del NM_000251.1(MSH2):c.1760-?_2802+?del MMR deletion not within known transcription unit 0 MMR_c.1835C>G NM_000251.1(MSH2):c.1835C>G MMR substitution exon 1 MMR_c.1861C>T NM_000251.1(MSH2):c.1861C>T MMR substitution exon 1 MMR_c.1889_1892delGAAG NM_000251.1(MSH2):c.1889_1892delGAAG MMR deletion exon 1 MMR_c.1771_1772insA NM_000251.1(MSH2):c.1771_1772insA MMR insertion exon 1 MMR_c.1968C>G NM_000251.1(MSH2):c.1968C>G MMR substitution exon 1 MMR_c.1807G>A NM_000251.1(MSH2):c.1807G>A MMR substitution exon 1 MMR_c.1760-?_2210+?del NM_000251.1(MSH2):c.1760-?_2210+?del MMR deletion not within known transcription unit 0 MMR_c.1907C>T NM_000251.1(MSH2):c.1907C>T MMR substitution exon 1 MMR_c.2005G>A NM_000251.1(MSH2):c.2005G>A MMR substitution exon 1 MMR_c.1760-?_2634+?del NM_000251.1(MSH2):c.1760-?_2634+?del MMR deletion not within known transcription unit 0 MMR_c.1760delG NM_000251.1(MSH2):c.1760delG MMR deletion exon 1 MMR_c.1764T>G NM_000251.1(MSH2):c.1764T>G MMR substitution exon 1 MMR_c.1773dupA NM_000251.1(MSH2):c.1773dupA MMR duplication exon 1 MMR_c.1779_1782delGACA NM_000251.1(MSH2):c.1779_1782delGACA MMR deletion exon 1 MMR_c.1781_1782insCT NM_000251.1(MSH2):c.1781_1782insCT MMR insertion exon 1 MMR_c.1799C>T NM_000251.1(MSH2):c.1799C>T MMR substitution exon 1 MMR_c.1807G>T NM_000251.1(MSH2):c.1807G>T MMR substitution exon 1 MMR_c.1809delT NM_000251.1(MSH2):c.1809delT MMR deletion exon 1 MMR_c.1815_1817delTGT NM_000251.1(MSH2):c.1815_1817delTGT MMR deletion exon 1 MMR_c.1826C>T NM_000251.1(MSH2):c.1826C>T MMR substitution exon 1 MMR_c.1856A>G NM_000251.1(MSH2):c.1856A>G MMR substitution exon 1 MMR_c.1857T>G NM_000251.1(MSH2):c.1857T>G MMR substitution exon 1 MMR_c.1857_1858dupTG NM_000251.1(MSH2):c.1857_1858dupTG MMR duplication exon 1 MMR_c.1873T>G NM_000251.1(MSH2):c.1873T>G MMR substitution exon 1 MMR_c.1885C>T NM_000251.1(MSH2):c.1885C>T MMR substitution exon 1 MMR_complex_39 NM_000251.1(MSH2):c.[1915C>T;2211-1G>T] MMR substitution not within known transcription unit 1 MMR_c.1921T>G NM_000251.1(MSH2):c.1921T>G MMR substitution exon 1 MMR_c.1983dupA NM_000251.1(MSH2):c.1983dupA MMR duplication exon 1 MMR_c.1985_1986delAG NM_000251.1(MSH2):c.1985_1986delAG MMR deletion exon 1 MMR_c.1986delG NM_000251.1(MSH2):c.1986delG MMR deletion exon 1 MMR_c.1987delA1988_1989dupTG NM_000251.1(MSH2):c.1987delA1988_1989dupTG MMR deletion exon 1 MMR_c.1996_1997delAT NM_000251.1(MSH2):c.1996_1997delAT MMR deletion exon 1 MMR_c.1828C>A NM_000251.1(MSH2):c.1828C>A MMR substitution exon 1 MMR_c.1912A>G NM_000251.1(MSH2):c.1912A>G MMR substitution exon 1 MMR_c.1933C>G NM_000251.1(MSH2):c.1933C>G MMR substitution exon 1 MMR_c.1917T>A NM_000251.1(MSH2):c.1917T>A MMR substitution exon 1 MMR_c.1955C>A NM_000251.1(MSH2):c.1955C>A MMR substitution exon 1 MMR_c.1853delC NM_000251.1(MSH2):c.1853delC MMR deletion exon 1 MMR_c.1911delC NM_000251.1(MSH2):c.1911delC MMR deletion exon 1 MMR_c.1808A>G NM_000251.1(MSH2):c.1808A>G MMR substitution exon 1 MMR_c.2005+1G>T NM_000251.1(MSH2):c.2005+1G>T MMR substitution intron 1 MMR_c.2005+2T>C NM_000251.1(MSH2):c.2005+2T>C MMR substitution intron 1 MMR_c.2006-6T>G NM_000251.1(MSH2):c.2006-6T>G MMR substitution intron 1 MMR_c.2006-1G>C NM_000251.1(MSH2):c.2006-1G>C MMR substitution intron 1 MMR_c.2005+25T>G NM_000251.1(MSH2):c.2005+25T>G MMR substitution intron 1 MMR_c.2006-5T>A NM_000251.1(MSH2):c.2006-5T>A MMR substitution intron 1 MMR_c.2006-2A>G NM_000251.1(MSH2):c.2006-2A>G MMR substitution intron 1 MMR_complex_40 NM_000251.1(MSH2):c.2006-5T>A;2006-6T>A MMR substitution intron 1 MMR_c.2005+8dupA NM_000251.1(MSH2):c.2005+8dupA MMR duplication intron 1 MMR_c.2044A>G NM_000251.1(MSH2):c.2044A>G MMR substitution exon 1 MMR_c.2038C>T NM_000251.1(MSH2):c.2038C>T MMR substitution exon 1 MMR_c.2160_2163delAGGA NM_000251.1(MSH2):c.2160_2163delAGGA MMR deletion exon 1 MMR_c.2089T>C NM_000251.1(MSH2):c.2089T>C MMR substitution exon 1 MMR_c.2194_2196delACT NM_000251.1(MSH2):c.2194_2196delACT MMR deletion exon 1 MMR_c.2239_2240delAT NM_000251.1(MSH2):c.2239_2240delAT MMR deletion exon 1 MMR_c.2031_2032delAT NM_000251.1(MSH2):c.2031_2032delAT MMR deletion exon 1 MMR_c.2090G>T NM_000251.1(MSH2):c.2090G>T MMR substitution exon 1 MMR_c.2123T>A NM_000251.1(MSH2):c.2123T>A MMR substitution exon 1 MMR_c.2063T>G NM_000251.1(MSH2):c.2063T>G MMR substitution exon 1 MMR_c.2006G>A NM_000251.1(MSH2):c.2006G>A MMR substitution exon 1 MMR_c.2131C>T NM_000251.1(MSH2):c.2131C>T MMR substitution exon 1 MMR_c.2071dupA NM_000251.1(MSH2):c.2071dupA MMR duplication exon 1 MMR_c.2191G>T NM_000251.1(MSH2):c.2191G>T MMR substitution exon 1 MMR_c.2113delG NM_000251.1(MSH2):c.2113delG MMR deletion exon 1 MMR_c.2026T>C NM_000251.1(MSH2):c.2026T>C MMR substitution exon 1 MMR_c.2020G>A NM_000251.1(MSH2):c.2020G>A MMR substitution exon 1 MMR_c.2006-?_2634+?del NM_000251.1(MSH2):c.2006-?_2634+?del MMR deletion not within known transcription unit 0 MMR_c.2006-?_2210+?del NM_000251.1(MSH2):c.2006-?_2210+?del MMR deletion not within known transcription unit 0 MMR_c.2010delC NM_000251.1(MSH2):c.2010delC MMR deletion exon 1 MMR_c.2011A>T NM_000251.1(MSH2):c.2011A>T MMR substitution exon 1 MMR_c.2015delT NM_000251.1(MSH2):c.2015delT MMR deletion exon 1 MMR_c.2018delG NM_000251.1(MSH2):c.2018delG MMR deletion exon 1 MMR_c.2024A>G NM_000251.1(MSH2):c.2024A>G MMR substitution exon 1 MMR_c.2053_2056dupATAG NM_000251.1(MSH2):c.2053_2056dupATAG MMR duplication exon 1 MMR_c.2061C>G NM_000251.1(MSH2):c.2061C>G MMR substitution exon 1 MMR_c.2064G>A NM_000251.1(MSH2):c.2064G>A MMR substitution exon 1 MMR_c.2074G>C NM_000251.1(MSH2):c.2074G>C MMR substitution exon 1 MMR_c.2075G>T NM_000251.1(MSH2):c.2075G>T MMR substitution exon 1 MMR_c.2080T>C NM_000251.1(MSH2):c.2080T>C MMR substitution exon 1 MMR_c.2082delT NM_000251.1(MSH2):c.2082delT MMR deletion exon 1 MMR_c.2091T>A NM_000251.1(MSH2):c.2091T>A MMR substitution exon 1 MMR_c.2135dupT NM_000251.1(MSH2):c.2135dupT MMR duplication exon 1 MMR_c.2139G>C NM_000251.1(MSH2):c.2139G>C MMR substitution exon 1 MMR_c.2141dupC NM_000251.1(MSH2):c.2141dupC MMR duplication exon 1 MMR_c.2141C>T NM_000251.1(MSH2):c.2141C>T MMR substitution exon 1 MMR_c.2154A>G NM_000251.1(MSH2):c.2154A>G MMR substitution exon 1 MMR_c.2168C>T NM_000251.1(MSH2):c.2168C>T MMR substitution exon 1 MMR_c.2171C>A NM_000251.1(MSH2):c.2171C>A MMR substitution exon 1 MMR_c.2204delT NM_000251.1(MSH2):c.2204delT MMR deletion exon 1 MMR_c.2087C>T NM_000251.1(MSH2):c.2087C>T MMR substitution exon 1 MMR_c.2047G>A NM_000251.1(MSH2):c.2047G>A MMR substitution exon 1 MMR_c.2021G>C NM_000251.1(MSH2):c.2021G>C MMR substitution exon 1 MMR_c.2210G>C NM_000251.1(MSH2):c.2210G>C MMR substitution exon 1 MMR_c.2020G>C NM_000251.1(MSH2):c.2020G>C MMR substitution exon 1 MMR_c.2009C>T NM_000251.1(MSH2):c.2009C>T MMR substitution exon 1 MMR_c.893A>C NM_000251.1(MSH2):c.893A>C MMR substitution exon 1 MMR_c.2108C>A NM_000251.1(MSH2):c.2108C>A MMR substitution exon 1 MMR_c.2021_2022delGT NM_000251.1(MSH2):c.2021_2022delGT MMR deletion exon 1 MMR_c.2210+274T>G NM_000251.1(MSH2):c.2210+274T>G MMR substitution intron 1 MMR_c.2210+317G>C NM_000251.1(MSH2):c.2210+317G>C MMR substitution intron 1 MMR_c.2211-2A>C NM_000251.1(MSH2):c.2211-2A>C MMR substitution intron 1 MMR_c.2210+1G>A NM_000251.1(MSH2):c.2210+1G>A MMR substitution intron 1 MMR_c.2211-2A>G NM_000251.1(MSH2):c.2211-2A>G MMR substitution intron 1 MMR_c.2211-6C>T NM_000251.1(MSH2):c.2211-6C>T MMR substitution intron 1 MMR_c.2210+1G>C NM_000251.1(MSH2):c.2210+1G>C MMR substitution intron 1 MMR_c.2210+8dupC NM_000251.1(MSH2):c.2210+8dupC MMR duplication intron 1 MMR_c.2210+77T>C NM_000251.1(MSH2):c.2210+77T>C MMR substitution intron 1 MMR_c.2211-10T>A NM_000251.1(MSH2):c.2211-10T>A MMR substitution intron 1 MMR_c.2245G>A NM_000251.1(MSH2):c.2245G>A MMR substitution exon 1 MMR_c.2245G>T NM_000251.1(MSH2):c.2245G>T MMR substitution exon 1 MMR_c.2427dupG NM_000251.1(MSH2):c.2427dupG MMR duplication exon 1 MMR_c.2305delT NM_000251.1(MSH2):c.2305delT MMR deletion exon 1 MMR_c.2388delT NM_000251.1(MSH2):c.2388delT MMR deletion exon 1 MMR_c.2422G>T NM_000251.1(MSH2):c.2422G>T MMR substitution exon 1 MMR_c.2347delC NM_000251.1(MSH2):c.2347delC MMR deletion exon 1 MMR_c.2292G>A NM_000251.1(MSH2):c.2292G>A MMR substitution exon 1 MMR_c.2363_2364delCT NM_000251.1(MSH2):c.2363_2364delCT MMR deletion exon 1 MMR_c.2231T>G NM_000251.1(MSH2):c.2231T>G MMR substitution exon 1 MMR_c.2362dupA NM_000251.1(MSH2):c.2362dupA MMR duplication exon 1 MMR_c.2237_2238insA NM_000251.1(MSH2):c.2237_2238insA MMR insertion exon 1 MMR_c.2228_2231delCATT NM_000251.1(MSH2):c.2228_2231delCATT MMR deletion exon 1 MMR_c.2407A>G NM_000251.1(MSH2):c.2407A>G MMR substitution exon 1 MMR_c.2228C>A NM_000251.1(MSH2):c.2228C>A MMR substitution exon 1 MMR_c.2228C>G NM_000251.1(MSH2):c.2228C>G MMR substitution exon 1 MMR_c.2251G>A NM_000251.1(MSH2):c.2251G>A MMR substitution exon 1 MMR_c.2275G>T NM_000251.1(MSH2):c.2275G>T MMR substitution exon 1 MMR_c.2290delT NM_000251.1(MSH2):c.2290delT MMR deletion exon 1 MMR_c.2293G>A NM_000251.1(MSH2):c.2293G>A MMR substitution exon 1 MMR_c.2294delC NM_000251.1(MSH2):c.2294delC MMR deletion exon 1 MMR_c.2295delT NM_000251.1(MSH2):c.2295delT MMR deletion exon 1 MMR_c.2308A>G NM_000251.1(MSH2):c.2308A>G MMR substitution exon 1 MMR_c.2334C>A NM_000251.1(MSH2):c.2334C>A MMR substitution exon 1 MMR_c.2335dupA NM_000251.1(MSH2):c.2335dupA MMR duplication exon 1 MMR_c.2360_2361dupTT NM_000251.1(MSH2):c.2360_2361dupTT MMR duplication exon 1 MMR_c.2408_2409delCA NM_000251.1(MSH2):c.2408_2409delCA MMR deletion exon 1 MMR_c.2432T>G NM_000251.1(MSH2):c.2432T>G MMR substitution exon 1 MMR_c.2437A>G NM_000251.1(MSH2):c.2437A>G MMR substitution exon 1 MMR_c.2446C>T NM_000251.1(MSH2):c.2446C>T MMR substitution exon 1 MMR_c.2211-?_2458+?del NM_000251.1(MSH2):c.2211-?_2458+?del MMR deletion not within known transcription unit 0 MMR_c.2242G>T NM_000251.1(MSH2):c.2242G>T MMR substitution exon 1 MMR_c.2233_2238delATAATC NM_000251.1(MSH2):c.2233_2238delATAATC MMR deletion exon 1 MMR_c.2235_2237dupAAT NM_000251.1(MSH2):c.2235_2237dupAAT MMR duplication exon 1 MMR_c.2261delC NM_000251.1(MSH2):c.2261delC MMR deletion exon 1 MMR_c.2337G>A NM_000251.1(MSH2):c.2337G>A MMR substitution exon 1 MMR_c.2420C>G NM_000251.1(MSH2):c.2420C>G MMR substitution exon 1 MMR_c.2211-?_2634+?del NM_000251.1(MSH2):c.2211-?_2634+?del MMR deletion not within known transcription unit 0 MMR_c.2458+1G>A NM_000251.1(MSH2):c.2458+1G>A MMR substitution intron 1 MMR_c.2459-2A>C NM_000251.1(MSH2):c.2459-2A>C MMR substitution intron 1 MMR_c.2459-12A>G NM_000251.1(MSH2):c.2459-12A>G MMR substitution intron 1 MMR_c.2500G>A NM_000251.1(MSH2):c.2500G>A MMR substitution exon 1 MMR_c.2459-?_2805+?del NM_000251.1(MSH2):c.2459-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.2516A>G NM_000251.1(MSH2):c.2516A>G MMR substitution exon 1 MMR_c.2620_2621ins115 NM_000251.1(MSH2):c.2620_2621ins115 MMR insertion exon 1 MMR_c.2466T>A NM_000251.1(MSH2):c.2466T>A MMR substitution exon 1 MMR_c.2632_2633delGA NM_000251.1(MSH2):c.2632_2633delGA MMR deletion exon 1 MMR_c.2459-?_2634+?del NM_000251.1(MSH2):c.2459-?_2634+?del MMR deletion not within known transcription unit 0 MMR_c.2466_2467delTG NM_000251.1(MSH2):c.2466_2467delTG MMR deletion exon 1 MMR_c.2470C>G NM_000251.1(MSH2):c.2470C>G MMR substitution exon 1 MMR_c.2470C>T NM_000251.1(MSH2):c.2470C>T MMR substitution exon 1 MMR_c.2479G>A NM_000251.1(MSH2):c.2479G>A MMR substitution exon 1 MMR_c.2485delC NM_000251.1(MSH2):c.2485delC MMR deletion exon 1 MMR_c.2501_2507delCTAATTT NM_000251.1(MSH2):c.2501_2507delCTAATTT MMR deletion exon 1 MMR_c.2502_2508delTAATTTC NM_000251.1(MSH2):c.2502_2508delTAATTTC MMR deletion exon 1 MMR_c.2507delT NM_000251.1(MSH2):c.2507delT MMR deletion exon 1 MMR_c.2533A>G NM_000251.1(MSH2):c.2533A>G MMR substitution exon 1 MMR_c.2536C>T NM_000251.1(MSH2):c.2536C>T MMR substitution exon 1 MMR_c.2558A>C NM_000251.1(MSH2):c.2558A>C MMR substitution exon 1 MMR_c.2575G>T NM_000251.1(MSH2):c.2575G>T MMR substitution exon 1 MMR_c.2579C>A NM_000251.1(MSH2):c.2579C>A MMR substitution exon 1 MMR_c.2579C>T NM_000251.1(MSH2):c.2579C>T MMR substitution exon 1 MMR_c.2581C>T NM_000251.1(MSH2):c.2581C>T MMR substitution exon 1 MMR_c.2602C>G NM_000251.1(MSH2):c.2602C>G MMR substitution exon 1 MMR_c.2609C>G NM_000251.1(MSH2):c.2609C>G MMR substitution exon 1 MMR_c.2617T>G NM_000251.1(MSH2):c.2617T>G MMR substitution exon 1 MMR_c.2633_2634delAG NM_000251.1(MSH2):c.2633_2634delAG MMR deletion exon 1 MMR_c.2634G>C NM_000251.1(MSH2):c.2634G>C MMR substitution exon 1 MMR_c.2583A>G NM_000251.1(MSH2):c.2583A>G MMR substitution exon 1 MMR_c.2529_2530delTG NM_000251.1(MSH2):c.2529_2530delTG MMR deletion exon 1 MMR_c.2503A>C NM_000251.1(MSH2):c.2503A>C MMR substitution exon 1 MMR_c.2551C>A NM_000251.1(MSH2):c.2551C>A MMR substitution exon 1 MMR_c.2517T>A NM_000251.1(MSH2):c.2517T>A MMR substitution exon 1 MMR_c.2634+5G>T NM_000251.1(MSH2):c.2634+5G>T MMR substitution intron 1 MMR_complex_41 NM_000251.1(MSH2):c.[2635-3C>T(+)2635-5T>C] MMR substitution intron 1 MMR_c.2634+5G>C NM_000251.1(MSH2):c.2634+5G>C MMR substitution intron 1 MMR_c.2635-214T>C NM_000251.1(MSH2):c.2635-214T>C MMR substitution intron 1 MMR_c.2634+1G>A NM_000251.1(MSH2):c.2634+1G>A MMR substitution intron 1 MMR_c.2634+1G>T NM_000251.1(MSH2):c.2634+1G>T MMR substitution intron 1 MMR_c.2635-1G>T NM_000251.1(MSH2):c.2635-1G>T MMR substitution intron 1 MMR_c.2635-3_2635-5delTTCinsCTT NM_000251.1(MSH2):c.2635-3_2635-5delTTCinsCTT MMR complex intron 1 MMR_c.2634+30delT NM_000251.1(MSH2):c.2634+30delT MMR deletion intron 1 MMR_c.2766T>C NM_000251.1(MSH2):c.2766T>C MMR substitution exon 1 MMR_c.2651T>G NM_000251.1(MSH2):c.2651T>G MMR substitution exon 1 MMR_c.2647delA NM_000251.1(MSH2):c.2647delA MMR deletion exon 1 MMR_c.2629-?_2805+?del NM_000251.1(MSH2):c.2629-?_2805+?del MMR deletion not within known transcription unit 0 MMR_c.2635C>T NM_000251.1(MSH2):c.2635C>T MMR substitution exon 1 MMR_c.2647dupA NM_000251.1(MSH2):c.2647dupA MMR duplication exon 1 MMR_c.2653C>T NM_000251.1(MSH2):c.2653C>T MMR substitution exon 1 MMR_c.2657A>G NM_000251.1(MSH2):c.2657A>G MMR substitution exon 1 MMR_c.2662delC NM_000251.1(MSH2):c.2662delC MMR deletion exon 1 MMR_c.2663T>G NM_000251.1(MSH2):c.2663T>G MMR substitution exon 1 MMR_c.2714C>G NM_000251.1(MSH2):c.2714C>G MMR substitution exon 1 MMR_c.2768T>A NM_000251.1(MSH2):c.2768T>A MMR substitution exon 1 MMR_c.2792A>C NM_000251.1(MSH2):c.2792A>C MMR substitution exon 1 MMR_c.2802G>C NM_000251.1(MSH2):c.2802G>C MMR substitution exon 1 MMR_c.2732T>G NM_000251.1(MSH2):c.2732T>G MMR substitution exon 1 MMR_c.2740G>T NM_000251.1(MSH2):c.2740G>T MMR substitution exon 1 MMR_c.1-?_457-?del AC006509.15(MSH6):c.1-?_457-?del MMR deletion not within known transcription unit 0 MMR_c.-210C>T AC006509.15(MSH6):c.-210C>T MMR substitution not within known transcription unit 1 MMR_c.-18G>T AC006509.15(MSH6):c.-18G>T MMR substitution not within known transcription unit 1 MMR_c.186C>A AC006509.15(MSH6):c.186C>A MMR substitution exon 1 MMR_c.59C>T AC006509.15(MSH6):c.59C>T MMR substitution exon 1 MMR_c.62A>G AC006509.15(MSH6):c.62A>G MMR substitution exon 1 MMR_c.73G>T AC006509.15(MSH6):c.73G>T MMR substitution exon 1 MMR_c.1-?_4083+?del AC006509.15(MSH6):c.1-?_4083+?del MMR deletion not within known transcription unit 0 MMR_c.38A>C AC006509.15(MSH6):c.38A>C MMR substitution exon 1 MMR_c.194C>T AC006509.15(MSH6):c.194C>T MMR substitution exon 1 MMR_c.1-?_457+?del AC006509.15(MSH6):c.1-?_457+?del MMR deletion not within known transcription unit 0 MMR_c.108T>G AC006509.15(MSH6):c.108T>G MMR substitution exon 1 MMR_c.161G>C AC006509.15(MSH6):c.161G>C MMR substitution exon 1 MMR_c.260+22C>G AC006509.15(MSH6):c.260+22C>G MMR substitution intron 1 MMR_c.261-36A>G AC006509.15(MSH6):c.261-36A>G MMR substitution intron 1 MMR_c.260+25A>C AC006509.15(MSH6):c.260+25A>C MMR substitution intron 1 MMR_c.260+43G>A AC006509.15(MSH6):c.260+43G>A MMR substitution intron 1 MMR_c.260+96A>C AC006509.15(MSH6):c.260+96A>C MMR substitution intron 1 MMR_c.260+101C>A AC006509.15(MSH6):c.260+101C>A MMR substitution intron 1 MMR_c.260+131C>A AC006509.15(MSH6):c.260+131C>A MMR substitution intron 1 MMR_c.260+2214C>T AC006509.15(MSH6):c.260+2214C>T MMR substitution intron 1 MMR_c.261-1170G>T AC006509.15(MSH6):c.261-1170G>T MMR substitution intron 1 MMR_c.2467A>G AC006509.15(MSH6):c.2467A>G MMR substitution exon 1 MMR_c.440T>A AC006509.15(MSH6):c.440T>A MMR substitution exon 1 MMR_c.431G>T AC006509.15(MSH6):c.431G>T MMR substitution exon 1 MMR_c.276A>G AC006509.15(MSH6):c.276A>G MMR substitution exon 1 MMR_c.426G>A AC006509.15(MSH6):c.426G>A MMR substitution exon 1 MMR_c.383G>T AC006509.15(MSH6):c.383G>T MMR substitution exon 1 MMR_c.261-?_457+?dup AC006509.15(MSH6):c.261-?_457+?dup MMR duplication not within known transcription unit 0 MMR_c.297G>T AC006509.15(MSH6):c.297G>T MMR substitution exon 1 MMR_c.384delT AC006509.15(MSH6):c.384delT MMR deletion exon 1 MMR_c.457+52T>A AC006509.15(MSH6):c.457+52T>A MMR substitution intron 1 MMR_c.458-52G>T AC006509.15(MSH6):c.458-52G>T MMR substitution intron 1 MMR_c.457+14C>G AC006509.15(MSH6):c.457+14C>G MMR substitution intron 1 MMR_c.457+63_457+64delGA AC006509.15(MSH6):c.457+63_457+64delGA MMR deletion intron 1 MMR_complex_42 AC006509.15(MSH6):c.[642C>G]+[458-1G>A] MMR substitution not within known transcription unit 1 MMR_c.458-1G>A AC006509.15(MSH6):c.458-1G>A MMR substitution intron 1 MMR_c.457+13A>G AC006509.15(MSH6):c.457+13A>G MMR substitution intron 1 MMR_c.457+1223T>C AC006509.15(MSH6):c.457+1223T>C MMR substitution intron 1 MMR_c.457+2T>A AC006509.15(MSH6):c.457+2T>A MMR substitution intron 1 MMR_c.457+394T>C AC006509.15(MSH6):c.457+394T>C MMR substitution intron 1 MMR_c.540T>C AC006509.15(MSH6):c.540T>C MMR substitution exon 1 MMR_complex_43 AC006509.15(MSH6):c.[560A>C(+)794T>G] MMR substitution exon 1 MMR_c.522_523delAG AC006509.15(MSH6):c.522_523delAG MMR deletion exon 1 MMR_complex_44 AC006509.15(MSH6):c.[603G>A(+)1186C>G] MMR substitution exon 1 MMR_c.467C>G AC006509.15(MSH6):c.467C>G MMR substitution exon 1 MMR_c.583G>T AC006509.15(MSH6):c.583G>T MMR substitution exon 1 MMR_c.483G>A AC006509.15(MSH6):c.483G>A MMR substitution exon 1 MMR_c.599C>A AC006509.15(MSH6):c.599C>A MMR substitution exon 1 MMR_c.628-56C>T AC006509.15(MSH6):c.628-56C>T MMR substitution intron 1 MMR_c.628-54T>C AC006509.15(MSH6):c.628-54T>C MMR substitution intron 1 MMR_c.627+1200T>C AC006509.15(MSH6):c.627+1200T>C MMR substitution intron 1 MMR_c.628-874C>T AC006509.15(MSH6):c.628-874C>T MMR substitution intron 1 MMR_c.1186C>G AC006509.15(MSH6):c.1186C>G MMR substitution exon 1 MMR_c.1867C>G AC006509.15(MSH6):c.1867C>G MMR substitution exon 1 MMR_c.2633T>C AC006509.15(MSH6):c.2633T>C MMR substitution exon 1 MMR_c.2656A>G AC006509.15(MSH6):c.2656A>G MMR substitution exon 1 MMR_c.2425delG AC006509.15(MSH6):c.2425delG MMR deletion exon 1 MMR_complex_45 AC006509.15(MSH6):c.[3020G>A(+)3607_3610delCATG] MMR complex exon 1 MMR_c.642C>G AC006509.15(MSH6):c.642C>G MMR substitution exon 1 MMR_c.741delA AC006509.15(MSH6):c.741delA MMR deletion exon 1 MMR_c.2314C>T AC006509.15(MSH6):c.2314C>T MMR substitution exon 1 MMR_c.2503C>T AC006509.15(MSH6):c.2503C>T MMR substitution exon 1 MMR_c.2176_2177delinsAG AC006509.15(MSH6):c.2176_2177delinsAG MMR complex exon 1 MMR_c.1403G>A AC006509.15(MSH6):c.1403G>A MMR substitution exon 1 MMR_c.1508C>G AC006509.15(MSH6):c.1508C>G MMR substitution exon 1 MMR_c.1739C>T AC006509.15(MSH6):c.1739C>T MMR substitution exon 1 MMR_c.2984delA AC006509.15(MSH6):c.2984delA MMR deletion exon 1 MMR_c.3119_3120delTT AC006509.15(MSH6):c.3119_3120delTT MMR deletion exon 1 MMR_c.1153_1155delAGG AC006509.15(MSH6):c.1153_1155delAGG MMR deletion exon 1 MMR_complex_46 AC006509.15(MSH6):c.[1453C>T(+)3907G>A] MMR substitution exon 1 MMR_c.1787delT AC006509.15(MSH6):c.1787delT MMR deletion exon 1 MMR_c.718C>T AC006509.15(MSH6):c.718C>T MMR substitution exon 1 MMR_c.1771C>T AC006509.15(MSH6):c.1771C>T MMR substitution exon 1 MMR_c.1477G>T AC006509.15(MSH6):c.1477G>T MMR substitution exon 1 MMR_c.663A>C AC006509.15(MSH6):c.663A>C MMR substitution exon 1 MMR_complex_47 AC006509.15(MSH6):c.[866G>A(+)867C>A] MMR substitution exon 1 MMR_c.642C>A AC006509.15(MSH6):c.642C>A MMR substitution exon 1 MMR_c.755C>G AC006509.15(MSH6):c.755C>G MMR substitution exon 1 MMR_c.3103C>T AC006509.15(MSH6):c.3103C>T MMR substitution exon 1 MMR_c.651dupT AC006509.15(MSH6):c.651dupT MMR duplication exon 1 MMR_c.1614_1615delTCinsAG AC006509.15(MSH6):c.1614_1615delTCinsAG MMR complex exon 1 MMR_c.1784delT AC006509.15(MSH6):c.1784delT MMR deletion exon 1 MMR_c.2719_2720delGT AC006509.15(MSH6):c.2719_2720delGT MMR deletion exon 1 MMR_c.884A>G AC006509.15(MSH6):c.884A>G MMR substitution exon 1 MMR_c.1369G>C AC006509.15(MSH6):c.1369G>C MMR substitution exon 1 MMR_c.1474A>G AC006509.15(MSH6):c.1474A>G MMR substitution exon 1 MMR_c.1830G>T AC006509.15(MSH6):c.1830G>T MMR substitution exon 1 MMR_c.2092C>A AC006509.15(MSH6):c.2092C>A MMR substitution exon 1 MMR_c.2491C>G AC006509.15(MSH6):c.2491C>G MMR substitution exon 1 MMR_c.3076G>T AC006509.15(MSH6):c.3076G>T MMR substitution exon 1 MMR_c.1299T>A AC006509.15(MSH6):c.1299T>A MMR substitution exon 1 MMR_c.1085delC AC006509.15(MSH6):c.1085delC MMR deletion exon 1 MMR_c.1444C>T AC006509.15(MSH6):c.1444C>T MMR substitution exon 1 MMR_c.1835C>A AC006509.15(MSH6):c.1835C>A MMR substitution exon 1 MMR_c.2045_2046delCT AC006509.15(MSH6):c.2045_2046delCT MMR deletion exon 1 MMR_c.2150_2153delTCAG AC006509.15(MSH6):c.2150_2153delTCAG MMR deletion exon 1 MMR_c.2302_2304delCCT AC006509.15(MSH6):c.2302_2304delCCT MMR deletion exon 1 MMR_c.3067G>T AC006509.15(MSH6):c.3067G>T MMR substitution exon 1 MMR_c.3020G>A AC006509.15(MSH6):c.3020G>A MMR substitution exon 1 MMR_c.742C>T AC006509.15(MSH6):c.742C>T MMR substitution exon 1 MMR_c.2360C>T AC006509.15(MSH6):c.2360C>T MMR substitution exon 1 MMR_c.1079G>T AC006509.15(MSH6):c.1079G>T MMR substitution exon 1 MMR_complex_48 AC006509.15(MSH6):c.[2282G>A(+)3557-40T>A] MMR substitution not within known transcription unit 1 MMR_c.2062_2063delGT AC006509.15(MSH6):c.2062_2063delGT MMR deletion exon 1 MMR_c.845dupT AC006509.15(MSH6):c.845dupT MMR duplication exon 1 MMR_c.2768dupA AC006509.15(MSH6):c.2768dupA MMR duplication exon 1 MMR_c.1421_1422dupTG AC006509.15(MSH6):c.1421_1422dupTG MMR duplication exon 1 MMR_c.2194C>T AC006509.15(MSH6):c.2194C>T MMR substitution exon 1 MMR_c.2611_2614dupATTA AC006509.15(MSH6):c.2611_2614dupATTA MMR duplication exon 1 MMR_c.1632_1635delAAAA AC006509.15(MSH6):c.1632_1635delAAAA MMR deletion exon 1 MMR_c.1190_1191delAT AC006509.15(MSH6):c.1190_1191delAT MMR deletion exon 1 MMR_c.2348_2349delGT AC006509.15(MSH6):c.2348_2349delGT MMR deletion exon 1 MMR_c.730C>T AC006509.15(MSH6):c.730C>T MMR substitution exon 1 MMR_c.2329T>A AC006509.15(MSH6):c.2329T>A MMR substitution exon 1 MMR_c.2061T>A AC006509.15(MSH6):c.2061T>A MMR substitution exon 1 MMR_c.2661T>G AC006509.15(MSH6):c.2661T>G MMR substitution exon 1 MMR_c.663A>G AC006509.15(MSH6):c.663A>G MMR substitution exon 1 MMR_c.1770C>T AC006509.15(MSH6):c.1770C>T MMR substitution exon 1 MMR_c.642C>T AC006509.15(MSH6):c.642C>T MMR substitution exon 1 MMR_c.1164C>T AC006509.15(MSH6):c.1164C>T MMR substitution exon 1 MMR_c.2400T>C AC006509.15(MSH6):c.2400T>C MMR substitution exon 1 MMR_c.762_763delTG AC006509.15(MSH6):c.762_763delTG MMR deletion exon 1 MMR_c.2983G>T AC006509.15(MSH6):c.2983G>T MMR substitution exon 1 MMR_complex_49 AC006509.15(MSH6):c.[663A>C(+)c.3415G>A] MMR substitution exon 1 MMR_c.3040_3042delAAG AC006509.15(MSH6):c.3040_3042delAAG MMR deletion exon 1 MMR_complex_50 AC006509.15(MSH6):c.[2633T>C(+)3207G>T] MMR substitution exon 1 MMR_c.3160A>T AC006509.15(MSH6):c.3160A>T MMR substitution exon 1 MMR_c.660A>C AC006509.15(MSH6):c.660A>C MMR substitution exon 1 MMR_c.1257G>A AC006509.15(MSH6):c.1257G>A MMR substitution exon 1 MMR_c.2239C>T AC006509.15(MSH6):c.2239C>T MMR substitution exon 1 MMR_c.1272C>G AC006509.15(MSH6):c.1272C>G MMR substitution exon 1 MMR_c.2253T>C AC006509.15(MSH6):c.2253T>C MMR substitution exon 1 MMR_c.2739T>C AC006509.15(MSH6):c.2739T>C MMR substitution exon 1 MMR_c.1637_1638delAG AC006509.15(MSH6):c.1637_1638delAG MMR deletion exon 1 MMR_c.2731C>T AC006509.15(MSH6):c.2731C>T MMR substitution exon 1 MMR_c.3768T>G AC006509.15(MSH6):c.3768T>G MMR substitution exon 1 MMR_c.1304T>C AC006509.15(MSH6):c.1304T>C MMR substitution exon 1 MMR_c.1868C>T AC006509.15(MSH6):c.1868C>T MMR substitution exon 1 MMR_c.2641delGinsAAAA AC006509.15(MSH6):c.2641delGinsAAAA MMR complex exon 1 MMR_c.648_649delinsTT AC006509.15(MSH6):c.648_649delinsTT MMR complex exon 1 MMR_c.2272C>T AC006509.15(MSH6):c.2272C>T MMR substitution exon 1 MMR_c.2319C>T AC006509.15(MSH6):c.2319C>T MMR substitution exon 1 MMR_c.1676G>A AC006509.15(MSH6):c.1676G>A MMR substitution exon 1 MMR_c.1857A>C AC006509.15(MSH6):c.1857A>C MMR substitution exon 1 MMR_c.2339C>G AC006509.15(MSH6):c.2339C>G MMR substitution exon 1 MMR_c.2561A>T AC006509.15(MSH6):c.2561A>T MMR substitution exon 1 MMR_c.2823_2825delTGC AC006509.15(MSH6):c.2823_2825delTGC MMR deletion exon 1 MMR_c.2906A>G AC006509.15(MSH6):c.2906A>G MMR substitution exon 1 MMR_c.3052_3053delCT AC006509.15(MSH6):c.3052_3053delCT MMR deletion exon 1 MMR_c.2851_2858delCTCCTGGA AC006509.15(MSH6):c.2851_2858delCTCCTGGA MMR deletion exon 1 MMR_c.1634_1637delAAGA AC006509.15(MSH6):c.1634_1637delAAGA MMR deletion exon 1 MMR_c.1580delT AC006509.15(MSH6):c.1580delT MMR deletion exon 1 MMR_c.2955C>G AC006509.15(MSH6):c.2955C>G MMR substitution exon 1 MMR_c.814G>T AC006509.15(MSH6):c.814G>T MMR substitution exon 1 MMR_c.1082G>A AC006509.15(MSH6):c.1082G>A MMR substitution exon 1 MMR_c.1135_1139delAGAGA AC006509.15(MSH6):c.1135_1139delAGAGA MMR deletion exon 1 MMR_complex_51 AC006509.15(MSH6):c.[1596dupT]+[3261delC] MMR complex exon 1 MMR_c.2815C>T AC006509.15(MSH6):c.2815C>T MMR substitution exon 1 MMR_c.1667A>T AC006509.15(MSH6):c.1667A>T MMR substitution exon 1 MMR_c.2295C>G AC006509.15(MSH6):c.2295C>G MMR substitution exon 1 MMR_complex_52 AC006509.15(MSH6):c.[2295C>G]+[2633T>C] MMR substitution exon 1 MMR_c.739_740insT AC006509.15(MSH6):c.739_740insT MMR insertion exon 1 MMR_c.747G>A AC006509.15(MSH6):c.747G>A MMR substitution exon 1 MMR_c.854G>T AC006509.15(MSH6):c.854G>T MMR substitution exon 1 MMR_c.866_867delinsAA AC006509.15(MSH6):c.866_867delinsAA MMR complex exon 1 MMR_complex_53 AC006509.15(MSH6):c.[868delC]+[3511_3516delGATAGAinsT] MMR complex exon 1 MMR_c.944C>T AC006509.15(MSH6):c.944C>T MMR substitution exon 1 MMR_c.1019T>C AC006509.15(MSH6):c.1019T>C MMR substitution exon 1 MMR_c.1170T>C AC006509.15(MSH6):c.1170T>C MMR substitution exon 1 MMR_c.1190A>G AC006509.15(MSH6):c.1190A>G MMR substitution exon 1 MMR_c.1273A>G AC006509.15(MSH6):c.1273A>G MMR substitution exon 1 MMR_c.1295_1296delinsGCA AC006509.15(MSH6):c.1295_1296delinsGCA MMR complex exon 1 MMR_c.1346T>C AC006509.15(MSH6):c.1346T>C MMR substitution exon 1 MMR_c.1421dupT AC006509.15(MSH6):c.1421dupT MMR duplication exon 1 MMR_c.1526T>C AC006509.15(MSH6):c.1526T>C MMR substitution exon 1 MMR_c.1565A>G AC006509.15(MSH6):c.1565A>G MMR substitution exon 1 MMR_c.1602delC AC006509.15(MSH6):c.1602delC MMR deletion exon 1 MMR_c.1613A>C AC006509.15(MSH6):c.1613A>C MMR substitution exon 1 MMR_c.1614delTinsG AC006509.15(MSH6):c.1614delTinsG MMR complex exon 1 MMR_c.1636G>C AC006509.15(MSH6):c.1636G>C MMR substitution exon 1 MMR_c.1696G>A AC006509.15(MSH6):c.1696G>A MMR substitution exon 1 MMR_complex_54 AC006509.15(MSH6):c.[1723G>T]+[4075G>T] MMR substitution exon 1 MMR_c.1806_1809delAAAG AC006509.15(MSH6):c.1806_1809delAAAG MMR deletion exon 1 MMR_c.1875C>T AC006509.15(MSH6):c.1875C>T MMR substitution exon 1 MMR_c.1901T>A AC006509.15(MSH6):c.1901T>A MMR substitution exon 1 MMR_c.1901_1902delTG AC006509.15(MSH6):c.1901_1902delTG MMR deletion exon 1 MMR_c.1957_1960dupGTGA AC006509.15(MSH6):c.1957_1960dupGTGA MMR duplication exon 1 MMR_c.2008G>A AC006509.15(MSH6):c.2008G>A MMR substitution exon 1 MMR_c.2054G>C AC006509.15(MSH6):c.2054G>C MMR substitution exon 1 MMR_c.2079dupA AC006509.15(MSH6):c.2079dupA MMR duplication exon 1 MMR_c.2092C>G AC006509.15(MSH6):c.2092C>G MMR substitution exon 1 MMR_c.2105C>G AC006509.15(MSH6):c.2105C>G MMR substitution exon 1 MMR_c.2165_2185delCTGGTGCTATCTTCACCAAAG AC006509.15(MSH6):c.2165_2185delCTGGTGCTATCTTCACCAAAG MMR deletion exon 1 MMR_c.2175C>G AC006509.15(MSH6):c.2175C>G MMR substitution exon 1 MMR_c.2183A>C AC006509.15(MSH6):c.2183A>C MMR substitution exon 1 MMR_c.2191C>T AC006509.15(MSH6):c.2191C>T MMR substitution exon 1 MMR_c.2315G>A AC006509.15(MSH6):c.2315G>A MMR substitution exon 1 MMR_c.2389delG AC006509.15(MSH6):c.2389delG MMR deletion exon 1 MMR_c.2398G>C AC006509.15(MSH6):c.2398G>C MMR substitution exon 1 MMR_c.2399T>C AC006509.15(MSH6):c.2399T>C MMR substitution exon 1 MMR_c.2408A>G AC006509.15(MSH6):c.2408A>G MMR substitution exon 1 MMR_c.2549A>G AC006509.15(MSH6):c.2549A>G MMR substitution exon 1 MMR_complex_55 AC006509.15(MSH6):c.[2672delT;2674delT] MMR deletion exon 1 MMR_c.2702G>A AC006509.15(MSH6):c.2702G>A MMR substitution exon 1 MMR_c.2927G>A AC006509.15(MSH6):c.2927G>A MMR substitution exon 1 MMR_c.2931C>G AC006509.15(MSH6):c.2931C>G MMR substitution exon 1 MMR_c.3013C>T AC006509.15(MSH6):c.3013C>T MMR substitution exon 1 MMR_c.3028_3032delACTAT AC006509.15(MSH6):c.3028_3032delACTAT MMR deletion exon 1 MMR_c.3062C>A AC006509.15(MSH6):c.3062C>A MMR substitution exon 1 MMR_c.3092A>T AC006509.15(MSH6):c.3092A>T MMR substitution exon 1 MMR_c.3155_3156delAG AC006509.15(MSH6):c.3155_3156delAG MMR deletion exon 1 MMR_c.706C>T AC006509.15(MSH6):c.706C>T MMR substitution exon 1 MMR_c.1677C>T AC006509.15(MSH6):c.1677C>T MMR substitution exon 1 MMR_c.649_650insT AC006509.15(MSH6):c.649_650insT MMR insertion exon 1 MMR_complex_56 AC006509.15(MSH6):c.[2672delT(+)2674delT] MMR deletion exon 1 MMR_complex_57 AC006509.15(MSH6):c.[1835C>A]+[3226C>T] MMR substitution exon 1 MMR_c.3172+171C>T AC006509.15(MSH6):c.3172+171C>T MMR substitution intron 1 MMR_c.3206G>A AC006509.15(MSH6):c.3206G>A MMR substitution exon 1 MMR_c.3261delC AC006509.15(MSH6):c.3261delC MMR deletion exon 1 MMR_c.3217C>T AC006509.15(MSH6):c.3217C>T MMR substitution exon 1 MMR_c.3355G>T AC006509.15(MSH6):c.3355G>T MMR substitution exon 1 MMR_c.3195_3198delCTAT AC006509.15(MSH6):c.3195_3198delCTAT MMR deletion exon 1 MMR_c.3367G>T AC006509.15(MSH6):c.3367G>T MMR substitution exon 1 MMR_c.3436C>T AC006509.15(MSH6):c.3436C>T MMR substitution exon 1 MMR_c.3202C>T AC006509.15(MSH6):c.3202C>T MMR substitution exon 1 MMR_c.3261dupC AC006509.15(MSH6):c.3261dupC MMR duplication exon 1 MMR_c.3379_3438+5del AC006509.15(MSH6):c.3379_3438+5del MMR deletion not within known transcription unit 1 MMR_c.3324dupT AC006509.15(MSH6):c.3324dupT MMR duplication exon 1 MMR_complex_58 AC006509.15(MSH6):c.[663A>C(+)3415G>A] MMR substitution exon 1 MMR_c.3425C>T AC006509.15(MSH6):c.3425C>T MMR substitution exon 1 MMR_c.3246G>T AC006509.15(MSH6):c.3246G>T MMR substitution exon 1 MMR_c.3226C>T AC006509.15(MSH6):c.3226C>T MMR substitution exon 1 MMR_c.3221delT AC006509.15(MSH6):c.3221delT MMR deletion exon 1 MMR_c.3263dupT AC006509.15(MSH6):c.3263dupT MMR duplication exon 1 MMR_c.3182delT AC006509.15(MSH6):c.3182delT MMR deletion exon 1 MMR_c.3195delC AC006509.15(MSH6):c.3195delC MMR deletion exon 1 MMR_c.3198_3199dupTA AC006509.15(MSH6):c.3198_3199dupTA MMR duplication exon 1 MMR_c.3259C>A AC006509.15(MSH6):c.3259C>A MMR substitution exon 1 MMR_c.3259C>T AC006509.15(MSH6):c.3259C>T MMR substitution exon 1 MMR_c.3260C>G AC006509.15(MSH6):c.3260C>G MMR substitution exon 1 MMR_c.3260_3261dupCC AC006509.15(MSH6):c.3260_3261dupCC MMR duplication exon 1 MMR_c.3284G>A AC006509.15(MSH6):c.3284G>A MMR substitution exon 1 MMR_c.3299C>T AC006509.15(MSH6):c.3299C>T MMR substitution exon 1 MMR_c.3306T>A AC006509.15(MSH6):c.3306T>A MMR substitution exon 1 MMR_c.3311_3312delTT AC006509.15(MSH6):c.3311_3312delTT MMR deletion exon 1 MMR_c.3312delT AC006509.15(MSH6):c.3312delT MMR deletion exon 1 MMR_c.3320delA AC006509.15(MSH6):c.3320delA MMR deletion exon 1 MMR_c.3415G>A AC006509.15(MSH6):c.3415G>A MMR substitution exon 1 MMR_c.3419A>G AC006509.15(MSH6):c.3419A>G MMR substitution exon 1 MMR_complex_59 AC006509.15(MSH6):c.[3226C>T]+[1835C>A] MMR substitution exon 1 MMR_complex_60 AC006509.15(MSH6):c.[3226C>T]+[3991C>T] MMR substitution exon 1 MMR_c.3273dupT AC006509.15(MSH6):c.3273dupT MMR duplication exon 1 MMR_c.[3261dupC]+(3260_3261dupCC) AC006509.15(MSH6):c.[3261dupC]+(3260_3261dupCC) MMR duplication exon 0 MMR_c.3173-446_3556+215del2269 AC006509.15(MSH6):c.3173-446_3556+215del2269 MMR deletion not within known transcription unit 1 MMR_c.3438+14A>T AC006509.15(MSH6):c.3438+14A>T MMR substitution intron 1 MMR_c.3439-16C>T AC006509.15(MSH6):c.3439-16C>T MMR substitution intron 1 MMR_c.3438+1G>A AC006509.15(MSH6):c.3438+1G>A MMR substitution intron 1 MMR_c.3438+13dupT AC006509.15(MSH6):c.3438+13dupT MMR duplication intron 1 MMR_c.3439-2A>G AC006509.15(MSH6):c.3439-2A>G MMR substitution intron 1 MMR_c.3488A>T AC006509.15(MSH6):c.3488A>T MMR substitution exon 1 MMR_c.3516_3519delAGTG AC006509.15(MSH6):c.3516_3519delAGTG MMR deletion exon 1 MMR_c.3514dupA AC006509.15(MSH6):c.3514dupA MMR duplication exon 1 MMR_c.3513_3514delTA AC006509.15(MSH6):c.3513_3514delTA MMR deletion exon 1 MMR_c.3543C>G AC006509.15(MSH6):c.3543C>G MMR substitution exon 1 MMR_c.3519_3522dupGTTT AC006509.15(MSH6):c.3519_3522dupGTTT MMR duplication exon 1 MMR_c.3472T>C AC006509.15(MSH6):c.3472T>C MMR substitution exon 1 MMR_c.3485_3487dupCTG AC006509.15(MSH6):c.3485_3487dupCTG MMR duplication exon 1 MMR_c.3489_3490insCTG AC006509.15(MSH6):c.3489_3490insCTG MMR insertion exon 1 MMR_c.3511_3512delGA AC006509.15(MSH6):c.3511_3512delGA MMR deletion exon 1 MMR_c.3513T>C AC006509.15(MSH6):c.3513T>C MMR substitution exon 1 MMR_c.3442G>C AC006509.15(MSH6):c.3442G>C MMR substitution exon 1 MMR_c.3516_3527delAGTGTTTACTAG AC006509.15(MSH6):c.3516_3527delAGTGTTTACTAG MMR deletion exon 1 MMR_c.3519_3520insA AC006509.15(MSH6):c.3519_3520insA MMR insertion exon 1 MMR_c.3557-4delT AC006509.15(MSH6):c.3557-4delT MMR deletion intron 1 MMR_c.3556+145A>G AC006509.15(MSH6):c.3556+145A>G MMR substitution intron 1 MMR_c.3556+146G>A AC006509.15(MSH6):c.3556+146G>A MMR substitution intron 1 MMR_c.3556+160T>C AC006509.15(MSH6):c.3556+160T>C MMR substitution intron 1 MMR_c.3557-4dupT AC006509.15(MSH6):c.3557-4dupT MMR duplication intron 1 MMR_c.3557-3dupA AC006509.15(MSH6):c.3557-3dupA MMR duplication intron 1 MMR_c.3557-3A>T AC006509.15(MSH6):c.3557-3A>T MMR substitution intron 1 MMR_c.3646_3646+3delGGTA AC006509.15(MSH6):c.3646_3646+3delGGTA MMR deletion not within known transcription unit 1 MMR_c.3607_3610delCATG AC006509.15(MSH6):c.3607_3610delCATG MMR deletion exon 1 MMR_c.3577G>A AC006509.15(MSH6):c.3577G>A MMR substitution exon 1 MMR_c.3635dupT AC006509.15(MSH6):c.3635dupT MMR duplication exon 1 MMR_complex_61 AC006509.15(MSH6):c.[3638A>T]+[3778G>A] MMR substitution exon 1 MMR_c.3638A>T AC006509.15(MSH6):c.3638A>T MMR substitution exon 1 MMR_c.3641A>C AC006509.15(MSH6):c.3641A>C MMR substitution exon 1 MMR_c.3581dupT AC006509.15(MSH6):c.3581dupT MMR duplication exon 1 MMR_c.3558_3565delTGAAAGTA AC006509.15(MSH6):c.3558_3565delTGAAAGTA MMR deletion exon 1 MMR_c.3646+31_3646+34dupATCT AC006509.15(MSH6):c.3646+31_3646+34dupATCT MMR duplication intron 1 MMR_c.3647-70_3647-54delTTTTTGTTTTAATTCCT AC006509.15(MSH6):c.3647-70_3647-54delTTTTTGTTTTAATTCCT MMR deletion intron 1 MMR_c.3647-70_3647-54dupTTTTTGTTTTAATTCCT AC006509.15(MSH6):c.3647-70_3647-54dupTTTTTGTTTTAATTCCT MMR duplication intron 1 MMR_c.3647-70_3647-65delTTTTTG AC006509.15(MSH6):c.3647-70_3647-65delTTTTTG MMR deletion intron 1 MMR_c.3646+29_3646+32delCTAT AC006509.15(MSH6):c.3646+29_3646+32delCTAT MMR deletion intron 1 MMR_c.3646+29_3646+32dupCTAT AC006509.15(MSH6):c.3646+29_3646+32dupCTAT MMR duplication intron 1 MMR_c.3647-2A>C AC006509.15(MSH6):c.3647-2A>C MMR substitution intron 1 MMR_c.3647-65_3647-61delGTTTT AC006509.15(MSH6):c.3647-65_3647-61delGTTTT MMR deletion intron 1 MMR_c.3647-6_3647-1delTAACAG AC006509.15(MSH6):c.3647-6_3647-1delTAACAG MMR deletion intron 1 MMR_c.3646-1A>G AC006509.15(MSH6):c.3646-1A>G MMR substitution intron 1 MMR_c.3799_3800delAT AC006509.15(MSH6):c.3799_3800delAT MMR deletion exon 1 MMR_c.3674C>T AC006509.15(MSH6):c.3674C>T MMR substitution exon 1 MMR_c.3694G>C AC006509.15(MSH6):c.3694G>C MMR substitution exon 1 MMR_c.3724_3726delCGT AC006509.15(MSH6):c.3724_3726delCGT MMR deletion exon 1 MMR_c.3697_3700del AC006509.15(MSH6):c.3697_3700del MMR deletion exon 1 MMR_c.3656C>T AC006509.15(MSH6):c.3656C>T MMR substitution exon 1 MMR_c.3742C>G AC006509.15(MSH6):c.3742C>G MMR substitution exon 1 MMR_c.3772C>T AC006509.15(MSH6):c.3772C>T MMR substitution exon 1 MMR_c.3725G>T AC006509.15(MSH6):c.3725G>T MMR substitution exon 1 MMR_c.3678_3706dup AC006509.15(MSH6):c.3678_3706dup MMR duplication exon 1 MMR_c.3650G>A AC006509.15(MSH6):c.3650G>A MMR substitution exon 1 MMR_c.3801+52_3801+53insA AC006509.15(MSH6):c.3801+52_3801+53insA MMR insertion intron 1 MMR_c.3801+17T>C AC006509.15(MSH6):c.3801+17T>C MMR substitution intron 1 MMR_c.3801+54C>G AC006509.15(MSH6):c.3801+54C>G MMR substitution intron 1 MMR_c.3802-41dupT AC006509.15(MSH6):c.3802-41dupT MMR duplication intron 1 MMR_c.3802-40C>G AC006509.15(MSH6):c.3802-40C>G MMR substitution intron 1 MMR_c.3804dupA AC006509.15(MSH6):c.3804dupA MMR duplication exon 1 MMR_c.3838C>T AC006509.15(MSH6):c.3838C>T MMR substitution exon 1 MMR_c.3851C>T AC006509.15(MSH6):c.3851C>T MMR substitution exon 1 MMR_c.3852G>A AC006509.15(MSH6):c.3852G>A MMR substitution exon 1 MMR_c.3939_3957dupTCAAAAGGGACATAGAAAA AC006509.15(MSH6):c.3939_3957dupTCAAAAGGGACATAGAAAA MMR duplication exon 1 MMR_c.3953_3954ins32 AC006509.15(MSH6):c.3953_3954ins32 MMR insertion exon 1 MMR_c.3956_3959delAAGC AC006509.15(MSH6):c.3956_3959delAAGC MMR deletion exon 1 MMR_c.3959_3962delCAAG AC006509.15(MSH6):c.3959_3962delCAAG MMR deletion exon 1 MMR_c.3984_3987dupGTCA AC006509.15(MSH6):c.3984_3987dupGTCA MMR duplication exon 1 MMR_c.3991C>T AC006509.15(MSH6):c.3991C>T MMR substitution exon 1 MMR_c.4001G>A AC006509.15(MSH6):c.4001G>A MMR substitution exon 1 MMR_c.3958_3961delGCAA AC006509.15(MSH6):c.3958_3961delGCAA MMR deletion exon 1 MMR_c.3961A>G AC006509.15(MSH6):c.3961A>G MMR substitution exon 1 MMR_c.3840_3846delGGAGACT AC006509.15(MSH6):c.3840_3846delGGAGACT MMR deletion exon 1 MMR_c.3958_3959ins19 AC006509.15(MSH6):c.3958_3959ins19 MMR insertion exon 1 MMR_c.3984_3985insATCA AC006509.15(MSH6):c.3984_3985insATCA MMR insertion exon 1 MMR_c.3963A>T AC006509.15(MSH6):c.3963A>T MMR substitution exon 1 MMR_c.3938_3941dupTTCA AC006509.15(MSH6):c.3938_3941dupTTCA MMR duplication exon 1 MMR_complex_62 AC006509.15(MSH6):c.[3820G>A]+[3821_3824dupAATG] MMR complex exon 1 MMR_c.3932_3935dupAAGT AC006509.15(MSH6):c.3932_3935dupAAGT MMR duplication exon 1 MMR_c.3847_3850dupATTA AC006509.15(MSH6):c.3847_3850dupATTA MMR duplication exon 1 MMR_c.3930G>C AC006509.15(MSH6):c.3930G>C MMR substitution exon 1 MMR_c.3887_3893delAAAGCTA AC006509.15(MSH6):c.3887_3893delAAAGCTA MMR deletion exon 1 MMR_c.3986C>T AC006509.15(MSH6):c.3986C>T MMR substitution exon 1 MMR_c.4001+2T>C AC006509.15(MSH6):c.4001+2T>C MMR substitution intron 1 MMR_c.4001+12_4001+15delACTA AC006509.15(MSH6):c.4001+12_4001+15delACTA MMR deletion intron 1 MMR_c.4002-31_4002-8delins AC006509.15(MSH6):c.4002-31_4002-8delinsTTAAAAAAAAAAAAAAAAAAGTTT MMR complex intron 1 MMR_c.4002-31_4002-8delins24 AC006509.15(MSH6):c.4002-31_4002-8delins24 MMR complex intron 1 MMR_c.4002-10_4002-13dupTTTT AC006509.15(MSH6):c.4002-10_4002-13dupTTTT MMR duplication intron 1 MMR_c.4001+10_4001+13delTAAC AC006509.15(MSH6):c.4001+10_4001+13delTAAC MMR deletion intron 1 MMR_c.4001+41_4001+44dupTAAG AC006509.15(MSH6):c.4001+41_4001+44dupTAAG MMR duplication intron 1 MMR_c.4001+32_4001+35dupAACT AC006509.15(MSH6):c.4001+32_4001+35dupAACT MMR duplication intron 1 MMR_c.4002-10delT AC006509.15(MSH6):c.4002-10delT MMR deletion intron 1 MMR_c.4002-10dupT AC006509.15(MSH6):c.4002-10dupT MMR duplication intron 1 MMR_c.4002-10_4002-11dupTT AC006509.15(MSH6):c.4002-10_4002-11dupTT MMR duplication intron 1 MMR_c.4002-10_4002-11delTT AC006509.15(MSH6):c.4002-10_4002-11delTT MMR deletion intron 1 MMR_c.4002-10_4002-12dupTTT AC006509.15(MSH6):c.4002-10_4002-12dupTTT MMR duplication intron 1 MMR_c.4002-8dupA AC006509.15(MSH6):c.4002-8dupA MMR duplication intron 1 MMR_c.4061T>A AC006509.15(MSH6):c.4061T>A MMR substitution exon 1 MMR_c.4064_4065insGTCA AC006509.15(MSH6):c.4064_4065insGTCA MMR insertion exon 1 MMR_c.4066_4069dupTTGA AC006509.15(MSH6):c.4066_4069dupTTGA MMR duplication exon 1 MMR_c.*85T>A AC006509.15(MSH6):c.*85T>A MMR substitution not within known transcription unit 1 MMR_c.-195T>C AC005995.3(PMS2):c.-195T>C MMR substitution not within known transcription unit 1 MMR_c.-123delC AC005995.3(PMS2):c.-123delC MMR deletion not within known transcription unit 1 MMR_c.906-?_2589+?del AC005995.3(PMS2):c.906-?_2589+?del MMR deletion not within known transcription unit 0 MMR_c.52A>G AC005995.3(PMS2):c.52A>G MMR substitution exon 1 MMR_c.59G>A AC005995.3(PMS2):c.59G>A MMR substitution exon 1 MMR_complex_63 AC005995.3(PMS2):c.[137G>T(+)1927C>T] MMR substitution exon 1 MMR_complex_64 AC005995.3(PMS2):c.[137G>T(+)780C>G(+)1408C>T(+)1621A>G] MMR substitution exon 1 MMR_complex_65 AC005995.3(PMS2):c.[59G>A(+)1688G>T(+)2324A>G(+)2340C>T(+)2466T>C(+)*17G>C(+)*92dupA] MMR complex not within known transcription unit 1 MMR_complex_66 AC005995.3(PMS2):c.[59G>A(+)2324A>G(+)2340C>T(+)2466T>C(+)*17G>C(+)*92dupA] MMR complex not within known transcription unit 1 MMR_complex_67 AC005995.3(PMS2):c.[52G>A(+)780C>G(+)1621A>G(+)2570G>C] MMR substitution exon 1 MMR_complex_68 AC005995.3(PMS2):c.[59G>A(+)780C>G(+)1408C>T(+)1711C>A(+)2324A>G(+)2340C>T(+)2466T>C(+)*92dupA] MMR complex not within known transcription unit 1 MMR_complex_69 AC005995.3(PMS2):c.[52A>G(+)780C>G(+)1408C>T(+)2324A>G(+)2340C>T] MMR substitution exon 1 MMR_complex_70 AC005995.3(PMS2):c.[137G>T]+[1730dupA;1732C>T] MMR complex exon 1 MMR_complex_71 AC005995.3(PMS2):c.[52A>G(+)780C>G(+)1866G>A(+)2570G>C] MMR substitution exon 1 MMR_complex_72 AC005995.3(PMS2):c.[137G>A]+[137G>T] MMR substitution exon 1 MMR_c.24-?_163+?del AC005995.3(PMS2):c.24-?_163+?del MMR deletion not within known transcription unit 0 MMR_c.137G>A AC005995.3(PMS2):c.137G>A MMR substitution exon 1 MMR_complex_73 AC005995.3(PMS2):c.[137G>T]+[137G>A] MMR substitution exon 1 MMR_c.182delA AC005995.3(PMS2):c.182delA MMR deletion exon 1 MMR_c.251-8T>C AC005995.3(PMS2):c.251-8T>C MMR substitution intron 1 MMR_c.250+108A>G AC005995.3(PMS2):c.250+108A>G MMR substitution intron 1 MMR_c.288C>T AC005995.3(PMS2):c.288C>T MMR substitution exon 1 MMR_c.320G>A AC005995.3(PMS2):c.320G>A MMR substitution exon 1 MMR_c.325G>A AC005995.3(PMS2):c.325G>A MMR substitution exon 1 MMR_c.400C>T AC005995.3(PMS2):c.400C>T MMR substitution exon 1 MMR_complex_74 AC005995.3(PMS2):c.[400C>T]+[2184_2185delTC] MMR complex exon 1 MMR_c.354-?_803+?del AC005995.3(PMS2):c.354-?_803+?del MMR deletion not within known transcription unit 0 MMR_538-223A>G AC005995.3(PMS2):538-223A>G MMR substitution intron 1 MMR_c.703C>T AC005995.3(PMS2):c.703C>T MMR substitution exon 1 MMR_c.543delT AC005995.3(PMS2):c.543delT MMR deletion exon 1 MMR_complex_75 AC005995.3(PMS2):c.[544G>A(+)705+1G>T(+)780C>G(+)1621A>G(+)*92dupA] MMR complex not within known transcription unit 1 MMR_complex_76 AC005995.3(PMS2):c.[780C>G(+)1408C>T] MMR substitution exon 1 MMR_c.593dupT AC005995.3(PMS2):c.593dupT MMR duplication exon 1 MMR_c.705+1G>T AC005995.3(PMS2):c.705+1G>T MMR substitution intron 1 MMR_c.705+17A>G AC005995.3(PMS2):c.705+17A>G MMR substitution intron 1 MMR_c.780C>G AC005995.3(PMS2):c.780C>G MMR substitution exon 1 MMR_complex_77 AC005995.3(PMS2):c.[544G>A(+)736_741delCCCCCTins11(+)1454C>A(+)1531A>G] MMR complex exon 1 MMR_complex_78 AC005995.3(PMS2):c.[780C>G(+)1408C>T(+)1621A>G] MMR substitution exon 1 MMR_complex_79 AC005995.3(PMS2):c.[780C>G(+)1621A>G] MMR substitution exon 1 MMR_complex_80 AC005995.3(PMS2):c.[780G>C(+)1408C>T] MMR substitution exon 1 MMR_complex_81 AC005995.3(PMS2):c.[736_741delCCCCCTins11(+)1408C>T(+)1531A>G(+)2007-4G>A] MMR complex not within known transcription unit 1 MMR_complex_82 AC005995.3(PMS2):c.[736_741delCCCCCTins11(+)1531A>G(+)1621A>G] MMR complex exon 1 MMR_c.736_741delCCCCCTins11 AC005995.3(PMS2):c.736_741delCCCCCTins11 MMR complex exon 1 MMR_c.802dupT AC005995.3(PMS2):c.802dupT MMR duplication exon 1 MMR_c.736_741delCCCCCTinsTGTGTGTGAAG AC005995.3(PMS2):c.736_741delCCCCCTinsTGTGTGTGAAG MMR complex exon 1 MMR_c.706-?_803+?del AC005995.3(PMS2):c.706-?_803+?del MMR deletion not within known transcription unit 0 MMR_c.804-10T>G AC005995.3(PMS2):c.804-10T>G MMR substitution intron 1 MMR_c.804-243G>A AC005995.3(PMS2):c.804-243G>A MMR substitution intron 1 MMR_c.804-?_903+?del AC005995.3(PMS2):c.804-?_903+?del MMR deletion not within known transcription unit 0 MMR_c.835G>T AC005995.3(PMS2):c.835G>T MMR substitution exon 1 MMR_c.856delG AC005995.3(PMS2):c.856delG MMR deletion exon 1 MMR_complex_83 AC005995.3(PMS2):c.[862_863delCA(+)1408C>T(+)2324A>G(+)2340C>T(+)2466T>C(+)*17G>C(+)*92dupA] MMR complex not within known transcription unit 1 MMR_complex_84 AC005995.3(PMS2):c.[804-?_903+?del(+)1408C>T(+)2007-4G>A(+)2390T>G] MMR complex not within known transcription unit 0 MMR_c.903G>T AC005995.3(PMS2):c.903G>T MMR substitution exon 1 MMR_c.861_864delACAG AC005995.3(PMS2):c.861_864delACAG MMR deletion exon 1 MMR_c.862_863delCA AC005995.3(PMS2):c.862_863delCA MMR deletion exon 1 MMR_c.904-?_988+?del AC005995.3(PMS2):c.904-?_988+?del MMR deletion not within known transcription unit 0 MMR_c.949C>T AC005995.3(PMS2):c.949C>T MMR substitution exon 1 MMR_c.988+78G>A AC005995.3(PMS2):c.988+78G>A MMR substitution intron 1 MMR_c.989-?_1144+?del AC005995.3(PMS2):c.989-?_1144+?del MMR deletion not within known transcription unit 0 MMR_c.1021delA AC005995.3(PMS2):c.1021delA MMR deletion exon 1 MMR_c.989-296_1144+706del AC005995.3(PMS2):c.989-296_1144+706del MMR deletion not within known transcription unit 1 MMR_c.1076dupT AC005995.3(PMS2):c.1076dupT MMR duplication exon 1 MMR_c.1145-5C>T AC005995.3(PMS2):c.1145-5C>T MMR substitution intron 1 MMR_c.1144+2T>A AC005995.3(PMS2):c.1144+2T>A MMR substitution intron 1 MMR_c.1408C>T AC005995.3(PMS2):c.1408C>T MMR substitution exon 1 MMR_c.1454C>A AC005995.3(PMS2):c.1454C>A MMR substitution exon 1 MMR_c.1621A>G AC005995.3(PMS2):c.1621A>G MMR substitution exon 1 MMR_c.1688G>T AC005995.3(PMS2):c.1688G>T MMR substitution exon 1 MMR_c.1753C>A AC005995.3(PMS2):c.1753C>A MMR substitution exon 1 MMR_c.1789A>T AC005995.3(PMS2):c.1789A>T MMR substitution exon 1 MMR_c.1866G>A AC005995.3(PMS2):c.1866G>A MMR substitution exon 1 MMR_c.1882C>T AC005995.3(PMS2):c.1882C>T MMR substitution exon 1 MMR_c.1531A>G AC005995.3(PMS2):c.1531A>G MMR substitution exon 1 MMR_c.1145-?_2589+?del AC005995.3(PMS2):c.1145-?_2589+?del MMR deletion not within known transcription unit 0 MMR_c.1927C>T AC005995.3(PMS2):c.1927C>T MMR substitution exon 1 MMR_c.1411C>T AC005995.3(PMS2):c.1411C>T MMR substitution exon 1 MMR_c.1169_1170ins20 AC005995.3(PMS2):c.1169_1170ins20 MMR insertion exon 1 MMR_c.1237_1239delAAA AC005995.3(PMS2):c.1237_1239delAAA MMR deletion exon 1 MMR_complex_85 AC005995.3(PMS2):c.[1221delG(+)2361_2364delCTTC] MMR deletion exon 1 MMR_c.1437C>G AC005995.3(PMS2):c.1437C>G MMR substitution exon 1 MMR_c.1488C>T AC005995.3(PMS2):c.1488C>T MMR substitution exon 1 MMR_c.1831dupA AC005995.3(PMS2):c.1831dupA MMR duplication exon 1 MMR_complex_86 AC005995.3(PMS2):c.[1408C>T(+)1531A>G] MMR substitution exon 1 MMR_complex_87 AC005995.3(PMS2):c.[1408C>T(+)1621A>G] MMR substitution exon 1 MMR_c.1221delG AC005995.3(PMS2):c.1221delG MMR deletion exon 1 MMR_complex_88 AC005995.3(PMS2):c.[1408C>T(+)1688G>T(+)2570G>C] MMR substitution exon 1 MMR_complex_89 AC005995.3(PMS2):c.[1408C>T(+)1621A>G(+)2007-4G>A] MMR substitution not within known transcription unit 1 MMR_complex_90 AC005995.3(PMS2):c.[59G>A(+)1621A>G(+)2324A>G(+)2340C>T(+)2466T>C(+)*17G>C(+)*92dupA] MMR complex not within known transcription unit 1 MMR_complex_91 AC005995.3(PMS2):c.[1408C>T(+)2007-4G>A] MMR substitution not within known transcription unit 1 MMR_complex_92 AC005995.3(PMS2):c.[1408C>T(+)1789A>T] MMR substitution exon 1 MMR_complex_93 AC005995.3(PMS2):c.[1621A>G(+)2113G>A] MMR substitution exon 1 MMR_c.1768delA AC005995.3(PMS2):c.1768delA MMR deletion exon 1 MMR_c.1506T>A AC005995.3(PMS2):c.1506T>A MMR substitution exon 1 MMR_c.1526C>A AC005995.3(PMS2):c.1526C>A MMR substitution exon 1 MMR_c.1530C>A AC005995.3(PMS2):c.1530C>A MMR substitution exon 1 MMR_c.1571C>A AC005995.3(PMS2):c.1571C>A MMR substitution exon 1 MMR_c.1576G>A AC005995.3(PMS2):c.1576G>A MMR substitution exon 1 MMR_c.1618C>A AC005995.3(PMS2):c.1618C>A MMR substitution exon 1 MMR_c.1760_1761delGTinsCG AC005995.3(PMS2):c.1760_1761delGTinsCG MMR complex exon 1 MMR_c.1957T>G AC005995.3(PMS2):c.1957T>G MMR substitution exon 1 MMR_c.1507_1508delTCinsGG AC005995.3(PMS2):c.1507_1508delTCinsGG MMR complex exon 1 MMR_c.1519A>T AC005995.3(PMS2):c.1519A>T MMR substitution exon 1 MMR_c.1532_1533delCGinsAC AC005995.3(PMS2):c.1532_1533delCGinsAC MMR complex exon 1 MMR_c.1578C>A AC005995.3(PMS2):c.1578C>A MMR substitution exon 1 MMR_c.1688G>A AC005995.3(PMS2):c.1688G>A MMR substitution exon 1 MMR_c.1714G>A AC005995.3(PMS2):c.1714G>A MMR substitution exon 1 MMR_c.1741A>G AC005995.3(PMS2):c.1741A>G MMR substitution exon 1 MMR_c.1744G>A AC005995.3(PMS2):c.1744G>A MMR substitution exon 1 MMR_c.1774C>T AC005995.3(PMS2):c.1774C>T MMR substitution exon 1 MMR_complex_94 AC005995.3(PMS2):c.[1780T>G(+)1782A>T] MMR substitution exon 1 MMR_complex_95 AC005995.3(PMS2):c.[1789A>T(+)1791T>C] MMR substitution exon 1 MMR_c.1794G>C AC005995.3(PMS2):c.1794G>C MMR substitution exon 1 MMR_complex_96 AC005995.3(PMS2):c.[1793A>C(+)1794G>A] MMR substitution exon 1 MMR_c.1795_1796delGAinsCC AC005995.3(PMS2):c.1795_1796delGAinsCC MMR complex exon 1 MMR_c.1805C>G AC005995.3(PMS2):c.1805C>G MMR substitution exon 1 MMR_complex_97 AC005995.3(PMS2):c.[1810C>T(+)1812G>A] MMR substitution exon 1 MMR_complex_98 AC005995.3(PMS2):c.[1822G>T(+)1824T>C MMR substitution exon 1 MMR_c.1853T>G AC005995.3(PMS2):c.1853T>G MMR substitution exon 1 MMR_c.1870T>G AC005995.3(PMS2):c.1870T>G MMR substitution exon 1 MMR_c.1874T>A AC005995.3(PMS2):c.1874T>A MMR substitution exon 1 MMR_c.1931A>T AC005995.3(PMS2):c.1931A>T MMR substitution exon 1 MMR_c.1952A>G AC005995.3(PMS2):c.1952A>G MMR substitution exon 1 MMR_complex_99 AC005995.3(PMS2):c.[1954A>T(+)1956T>G] MMR substitution exon 1 MMR_c.1522A>C AC005995.3(PMS2):c.1522A>C MMR substitution exon 1 MMR_c.1537_1538delAGinsGA AC005995.3(PMS2):c.1537_1538delAGinsGA MMR complex exon 1 MMR_c.1556A>G AC005995.3(PMS2):c.1556A>G MMR substitution exon 1 MMR_c.1559C>T AC005995.3(PMS2):c.1559C>T MMR substitution exon 1 MMR_c.1717A>T AC005995.3(PMS2):c.1717A>T MMR substitution exon 1 MMR_c.1733G>T AC005995.3(PMS2):c.1733G>T MMR substitution exon 1 MMR_c.1747G>A AC005995.3(PMS2):c.1747G>A MMR substitution exon 1 MMR_c.1759_1760delAGinsGA AC005995.3(PMS2):c.1759_1760delAGinsGA MMR complex exon 1 MMR_c.1768A>C AC005995.3(PMS2):c.1768A>C MMR substitution exon 1 MMR_complex_100 AC005995.3(PMS2):c.[1798A>C(+)1800G>T] MMR substitution exon 1 MMR_c.1802C>T AC005995.3(PMS2):c.1802C>T MMR substitution exon 1 MMR_c.1837A>T AC005995.3(PMS2):c.1837A>T MMR substitution exon 1 MMR_c.1885A>T AC005995.3(PMS2):c.1885A>T MMR substitution exon 1 MMR_c.1898A>T AC005995.3(PMS2):c.1898A>T MMR substitution exon 1 MMR_complex_101 AC005995.3(PMS2):c.[1408C>T(+)2570G>C] MMR substitution exon 1 MMR_c.1145-?_2174-?del AC005995.3(PMS2):c.1145-?_2174-?del MMR deletion not within known transcription unit 0 MMR_c.1738A>T AC005995.3(PMS2):c.1738A>T MMR substitution exon 1 MMR_c.1939A>T AC005995.3(PMS2):c.1939A>T MMR substitution exon 1 MMR_c.1840A>T AC005995.3(PMS2):c.1840A>T MMR substitution exon 1 MMR_c.1145-?_2445+?del AC005995.3(PMS2):c.1145-?_2445+?del MMR deletion not within known transcription unit 0 MMR_complex_102 AC005995.3(PMS2):c.[1408C>T(+)1454C>A(+)1840A>T] MMR substitution exon 1 MMR_complex_103 AC005995.3(PMS2):c.[1454C>A(+)1840A>T] MMR substitution exon 1 MMR_c.1306dupA AC005995.3(PMS2):c.1306dupA MMR duplication exon 1 MMR_c.2006+6G>A AC005995.3(PMS2):c.2006+6G>A MMR substitution intron 1 MMR_c.2007-1G>A AC005995.3(PMS2):c.2007-1G>A MMR substitution intron 1 MMR_complex_104 AC005995.3(PMS2):c.[2007-1G>A(+)*92dupA] MMR complex not within known transcription unit 1 MMR_c.2007-4G>A AC005995.3(PMS2):c.2007-4G>A MMR substitution intron 1 MMR_c.2007-7C>T AC005995.3(PMS2):c.2007-7C>T MMR substitution intron 1 MMR_c.2007-11T>C AC005995.3(PMS2):c.2007-11T>C MMR substitution intron 1 MMR_c.2113G>A AC005995.3(PMS2):c.2113G>A MMR substitution exon 1 MMR_c.2019T>G AC005995.3(PMS2):c.2019T>G MMR substitution exon 1 MMR_complex_105 AC005995.3(PMS2):c.[2035A>T(+)2037T>G] MMR substitution exon 1 MMR_c.2174+1G>A AC005995.3(PMS2):c.2174+1G>A MMR substitution intron 1 MMR_c.2192_2196delTAACT AC005995.3(PMS2):c.2192_2196delTAACT MMR deletion exon 1 MMR_c.2243_2246delAGAA AC005995.3(PMS2):c.2243_2246delAGAA MMR deletion exon 1 MMR_c.2184_2185delTC AC005995.3(PMS2):c.2184_2185delTC MMR deletion exon 1 MMR_c.2404C>T AC005995.3(PMS2):c.2404C>T MMR substitution exon 1 MMR_c.2324A>G AC005995.3(PMS2):c.2324A>G MMR substitution exon 1 MMR_c.2340C>T AC005995.3(PMS2):c.2340C>T MMR substitution exon 1 MMR_c.2361_2364delCTTC AC005995.3(PMS2):c.2361_2364delCTTC MMR deletion exon 1 MMR_c.2570G>C AC005995.3(PMS2):c.2570G>C MMR substitution exon 1 MMR_c.2466T>C AC005995.3(PMS2):c.2466T>C MMR substitution exon 1 MMR_c.2528G>A AC005995.3(PMS2):c.2528G>A MMR substitution exon 1 VWF_c.55G>A NM_000552.2(VWF):c.55G>A VWF substitution exon 1 VWF_c.100C>G NM_000552.2(VWF):c.100C>G VWF substitution exon 1 VWF_c.100C>T NM_000552.2(VWF):c.100C>T VWF substitution exon 1 VWF_c.139G>C NM_000552.2(VWF):c.139G>C VWF substitution exon 1 VWF_c.147C>A NM_000552.2(VWF):c.147C>A VWF substitution exon 1 VWF_c.171C>A NM_000552.2(VWF):c.171C>A VWF substitution exon 1 VWF_c.191delG NM_000552.2(VWF):c.191delG VWF deletion exon 1 VWF_c.212C>A NM_000552.2(VWF):c.212C>A VWF substitution exon 1 VWF_c.253T>C NM_000552.2(VWF):c.253T>C VWF substitution exon 1 VWF_c.260A>C NM_000552.2(VWF):c.260A>C VWF substitution exon 1 VWF_c.276delT NM_000552.2(VWF):c.276delT VWF deletion exon 1 VWF_c.276_277insT NM_000552.2(VWF):c.276_277insT VWF insertion exon 1 VWF_c.374_387del NM_000552.2(VWF):c.374_387del VWF deletion exon 1 VWF_c.375_376delGTinsC NM_000552.2(VWF):c.375_376delGTinsC VWF complex exon 1 VWF_c.385C>A NM_000552.2(VWF):c.385C>A VWF substitution exon 1 VWF_c.421G>A NM_000552.2(VWF):c.421G>A VWF substitution exon 1 VWF_c.421G>T NM_000552.2(VWF):c.421G>T VWF substitution exon 1 VWF_c.422A>G NM_000552.2(VWF):c.422A>G VWF substitution exon 1 VWF_c.449T>A NM_000552.2(VWF):c.449T>A VWF substitution exon 1 VWF_c.449T>C NM_000552.2(VWF):c.449T>C VWF substitution exon 1 VWF_c.478G>T NM_000552.2(VWF):c.478G>T VWF substitution exon 1 VWF_c.497A>T NM_000552.2(VWF):c.497A>T VWF substitution exon 1 VWF_c.533-2A>G NM_000552.2(VWF):c.533-2A>G VWF substitution intron 1 VWF_c.652C>T NM_000552.2(VWF):c.652C>T VWF substitution exon 1 VWF_c.666G>A NM_000552.2(VWF):c.666G>A VWF substitution exon 1 VWF_c.788_811del NM_000552.2(VWF):c.788_811del VWF deletion exon 1 VWF_c.817C>T NM_000552.2(VWF):c.817C>T VWF substitution exon 1 VWF_c.823T>A NM_000552.2(VWF):c.823T>A VWF substitution exon 1 VWF_c.823T>C NM_000552.2(VWF):c.823T>C VWF substitution exon 1 VWF_c.874+1G>A NM_000552.2(VWF):c.874+1G>A VWF substitution intron 1 VWF_c.893_894insG NM_000552.2(VWF):c.893_894insG VWF insertion exon 1 VWF_c.970C>T NM_000552.2(VWF):c.970C>T VWF substitution exon 1 VWF_c.971G>A NM_000552.2(VWF):c.971G>A VWF substitution exon 1 VWF_c.988dupA NM_000552.2(VWF):c.988dupA VWF duplication exon 1 VWF_c.1071C>A NM_000552.2(VWF):c.1071C>A VWF substitution exon 1 VWF_c.1093C>T NM_000552.2(VWF):c.1093C>T VWF substitution exon 1 VWF_c.1109+2T>C NM_000552.2(VWF):c.1109+2T>C VWF substitution intron 1 VWF_c.1110-1G>A NM_000552.2(VWF):c.1110-1G>A VWF substitution intron 1 VWF_c.1117C>T NM_000552.2(VWF):c.1117C>T VWF substitution exon 1 VWF_c.1131G>T NM_000552.2(VWF):c.1131G>T VWF substitution exon 1 VWF_c.1212_1213insAATCCC NM_000552.2(VWF):c.1212_1213insAATCCC VWF insertion exon 1 VWF_c.1280T>A NM_000552.2(VWF):c.1280T>A VWF substitution exon 1 VWF_c.1309_1326del NM_000552.2(VWF):c.1309_1326del VWF deletion exon 1 VWF_c.1533+15G>A NM_000552.2(VWF):c.1533+15G>A VWF substitution intron 1 VWF_c.1534-3C>A NM_000552.2(VWF):c.1534-3C>A VWF substitution intron 1 VWF_c.1573G>A NM_000552.2(VWF):c.1573G>A VWF substitution exon 1 VWF_c.1583A>G NM_000552.2(VWF):c.1583A>G VWF substitution exon 1 VWF_c.1648G>A NM_000552.2(VWF):c.1648G>A VWF substitution exon 1 VWF_c.1657dupT NM_000552.2(VWF):c.1657dupT VWF duplication exon 1 VWF_c.1709G>C NM_000552.2(VWF):c.1709G>C VWF substitution exon 1 VWF_c.1728G>T NM_000552.2(VWF):c.1728G>T VWF substitution exon 1 VWF_c.1730-2A>G NM_000552.2(VWF):c.1730-2A>G VWF substitution intron 1 VWF_c.1781C>G NM_000552.2(VWF):c.1781C>G VWF substitution exon 1 VWF_c.1830C>A NM_000552.2(VWF):c.1830C>A VWF substitution exon 1 VWF_c.1858G>T NM_000552.2(VWF):c.1858G>T VWF substitution exon 1 VWF_c.1869C>G NM_000552.2(VWF):c.1869C>G VWF substitution exon 1 VWF_c.1873_1874insGCG NM_000552.2(VWF):c.1873_1874insGCG VWF insertion exon 1 VWF_c.1922C>T NM_000552.2(VWF):c.1922C>T VWF substitution exon 1 VWF_c.1926G>A NM_000552.2(VWF):c.1926G>A VWF substitution exon 1 VWF_c.1930G>T NM_000552.2(VWF):c.1930G>T VWF substitution exon 1 VWF_c.1946-4C>T NM_000552.2(VWF):c.1946-4C>T VWF substitution intron 1 VWF_c.2016_2019delCTCT NM_000552.2(VWF):c.2016_2019delCTCT VWF deletion exon 1 VWF_c.2072delC NM_000552.2(VWF):c.2072delC VWF deletion exon 1 VWF_c.2116C>T NM_000552.2(VWF):c.2116C>T VWF substitution exon 1 VWF_c.2124_2125delCT NM_000552.2(VWF):c.2124_2125delCT VWF deletion exon 1 VWF_c.2157delA NM_000552.2(VWF):c.2157delA VWF deletion exon 1 VWF_c.2220G>A NM_000552.2(VWF):c.2220G>A VWF substitution exon 1 VWF_c.2269_2270delCT NM_000552.2(VWF):c.2269_2270delCT VWF deletion exon 1 VWF_c.2278C>T NM_000552.2(VWF):c.2278C>T VWF substitution exon 1 VWF_c.2279G>A NM_000552.2(VWF):c.2279G>A VWF substitution exon 1 VWF_c.2284A>G NM_000552.2(VWF):c.2284A>G VWF substitution exon 1 VWF_c.2287A>G NM_000552.2(VWF):c.2287A>G VWF substitution exon 1 VWF_c.2313G>T NM_000552.2(VWF):c.2313G>T VWF substitution exon 1 VWF_c.2344C>T NM_000552.2(VWF):c.2344C>T VWF substitution exon 1 VWF_c.2345G>A NM_000552.2(VWF):c.2345G>A VWF substitution exon 1 VWF_c.2354G>A NM_000552.2(VWF):c.2354G>A VWF substitution exon 1 VWF_c.2359G>A NM_000552.2(VWF):c.2359G>A VWF substitution exon 1 VWF_c.2362T>C NM_000552.2(VWF):c.2362T>C VWF substitution exon 1 VWF_c.2363G>A NM_000552.2(VWF):c.2363G>A VWF substitution exon 1 VWF_c.2365A>C NM_000552.2(VWF):c.2365A>C VWF substitution exon 1 VWF_c.2372C>T NM_000552.2(VWF):c.2372C>T VWF substitution exon 1 VWF_c.2384A>G NM_000552.2(VWF):c.2384A>G VWF substitution exon 1 VWF_c.2398A>G NM_000552.2(VWF):c.2398A>G VWF substitution exon 1 VWF_c.2411G>T NM_000552.2(VWF):c.2411G>T VWF substitution exon 1 VWF_c.2435C>T NM_000552.2(VWF):c.2435C>T VWF substitution exon 1 VWF_c.2435delC NM_000552.2(VWF):c.2435delC VWF deletion exon 1 VWF_c.(?_2443)_(2546_?)del NM_000552.2(VWF):c.(?_2443)_(2546_?)del VWF deletion not within known transcription unit 0 VWF_c.2443-1G>C NM_000552.2(VWF):c.2443-1G>C VWF substitution intron 1 VWF_c.2446C>T NM_000552.2(VWF):c.2446C>T VWF substitution exon 1 VWF_c.2447G>A NM_000552.2(VWF):c.2447G>A VWF substitution exon 1 VWF_c.2451T>A NM_000552.2(VWF):c.2451T>A VWF substitution exon 1 VWF_c.2515delG NM_000552.2(VWF):c.2515delG VWF deletion exon 1 VWF_c.2540_2541insA NM_000552.2(VWF):c.2540_2541insA VWF insertion exon 1 VWF_c.2560C>T NM_000552.2(VWF):c.2560C>T VWF substitution exon 1 VWF_c.2561G>A NM_000552.2(VWF):c.2561G>A VWF substitution exon 1 VWF_c.2573G>T NM_000552.2(VWF):c.2573G>T VWF substitution exon 1 VWF_c.2635G>A NM_000552.2(VWF):c.2635G>A VWF substitution exon 1 VWF_c.2641delC NM_000552.2(VWF):c.2641delC VWF deletion exon 1 VWF_c.2685+2T>C NM_000552.2(VWF):c.2685+2T>C VWF substitution intron 1 VWF_c.2686-1G>C NM_000552.2(VWF):c.2686-1G>C VWF substitution intron 1 VWF_c.2686-2A>G NM_000552.2(VWF):c.2686-2A>G VWF substitution intron 1 VWF_c.2734_2735insT NM_000552.2(VWF):c.2734_2735insT VWF insertion exon 1 VWF_c.2770C>T NM_000552.2(VWF):c.2770C>T VWF substitution exon 1 VWF_c.2771G>A NM_000552.2(VWF):c.2771G>A VWF substitution exon 1 VWF_c.2820+1G>A NM_000552.2(VWF):c.2820+1G>A VWF substitution intron 1 VWF_c.2820+1G>C NM_000552.2(VWF):c.2820+1G>C VWF substitution intron 1 VWF_c.2936G>A NM_000552.2(VWF):c.2936G>A VWF substitution exon 1 VWF_c.2986T>G NM_000552.2(VWF):c.2986T>G VWF substitution exon 1 VWF_c.3072delC NM_000552.2(VWF):c.3072delC VWF deletion exon 1 VWF_c.3108+5G>A NM_000552.2(VWF):c.3108+5G>A VWF substitution intron 1 VWF_c.3159G>T NM_000552.2(VWF):c.3159G>T VWF substitution exon 1 VWF_c.3178T>C NM_000552.2(VWF):c.3178T>C VWF substitution exon 1 VWF_c.3179G>A NM_000552.2(VWF):c.3179G>A VWF substitution exon 1 VWF_c.3212G>T NM_000552.2(VWF):c.3212G>T VWF substitution exon 1 VWF_c.3232G>A NM_000552.2(VWF):c.3232G>A VWF substitution exon 1 VWF_c.3281T>C NM_000552.2(VWF):c.3281T>C VWF substitution exon 1 VWF_c.3301T>C NM_000552.2(VWF):c.3301T>C VWF substitution exon 1 VWF_c.3303C>G NM_000552.2(VWF):c.3303C>G VWF substitution exon 1 VWF_c.3320A>G NM_000552.2(VWF):c.3320A>G VWF substitution exon 1 VWF_c.3332G>A NM_000552.2(VWF):c.3332G>A VWF substitution exon 1 VWF_c.3359G>C NM_000552.2(VWF):c.3359G>C VWF substitution exon 1 VWF_c.3379+1G>A NM_000552.2(VWF):c.3379+1G>A VWF substitution intron 1 VWF_c.3385_3386delAG NM_000552.2(VWF):c.3385_3386delAG VWF deletion exon 1 VWF_c.3388T>C NM_000552.2(VWF):c.3388T>C VWF substitution exon 1 VWF_c.3388T>G NM_000552.2(VWF):c.3388T>G VWF substitution exon 1 VWF_c.3389G>T NM_000552.2(VWF):c.3389G>T VWF substitution exon 1 VWF_c.3430T>G NM_000552.2(VWF):c.3430T>G VWF substitution exon 1 VWF_c.3437A>G NM_000552.2(VWF):c.3437A>G VWF substitution exon 1 VWF_c.3445T>C NM_000552.2(VWF):c.3445T>C VWF substitution exon 1 VWF_c.3460C>T NM_000552.2(VWF):c.3460C>T VWF substitution exon 1 VWF_c.3467C>T NM_000552.2(VWF):c.3467C>T VWF substitution exon 1 VWF_c.3470G>T NM_000552.2(VWF):c.3470G>T VWF substitution exon 1 VWF_c.3511G>C NM_000552.2(VWF):c.3511G>C VWF substitution exon 1 VWF_c.3538+1G>A NM_000552.2(VWF):c.3538+1G>A VWF substitution intron 1 VWF_c.3538G>A NM_000552.2(VWF):c.3538G>A VWF substitution exon 1 VWF_c.3568T>C NM_000552.2(VWF):c.3568T>C VWF substitution exon 1 VWF_c.3586T>C NM_000552.2(VWF):c.3586T>C VWF substitution exon 1 VWF_c.3614G>A NM_000552.2(VWF):c.3614G>A VWF substitution exon 1 VWF_c.3614G>T NM_000552.2(VWF):c.3614G>T VWF substitution exon 1 VWF_c.3673T>G NM_000552.2(VWF):c.3673T>G VWF substitution exon 1 VWF_c.3679T>C NM_000552.2(VWF):c.3679T>C VWF substitution exon 1 VWF_c.3686T>G NM_000552.2(VWF):c.3686T>G VWF substitution exon 1 VWF_c.3692A>C NM_000552.2(VWF):c.3692A>C VWF substitution exon 1 VWF_c.3702T>G NM_000552.2(VWF):c.3702T>G VWF substitution exon 1 VWF_c.3797C>A NM_000552.2(VWF):c.3797C>A VWF substitution exon 1 VWF_c.3797C>T NM_000552.2(VWF):c.3797C>T VWF substitution exon 1 VWF_c.3802C>A NM_000552.2(VWF):c.3802C>A VWF substitution exon 1 VWF_c.3802C>G NM_000552.2(VWF):c.3802C>G VWF substitution exon 1 VWF_c.3814T>C NM_000552.2(VWF):c.3814T>C VWF substitution exon 1 VWF_c.3814T>G NM_000552.2(VWF):c.3814T>G VWF substitution exon 1 VWF_c.3814_3815insATTTCTACT NM_000552.2(VWF):c.3814_3815insATTTCTACT VWF insertion exon 1 VWF_c.3815G>C NM_000552.2(VWF):c.3815G>C VWF substitution exon 1 VWF_c.3815G>T NM_000552.2(VWF):c.3815G>T VWF substitution exon 1 VWF_c.3827T>C NM_000552.2(VWF):c.3827T>C VWF substitution exon 1 VWF_c.3831_3833delCCT NM_000552.2(VWF):c.3831_3833delCCT VWF deletion exon 1 VWF_c.3835G>A NM_000552.2(VWF):c.3835G>A VWF substitution exon 1 VWF_c.3835G>T NM_000552.2(VWF):c.3835G>T VWF substitution exon 1 VWF_c.3839_3845dup NM_000552.2(VWF):c.3839_3845dup VWF duplication exon 1 VWF_c.3845T>G NM_000552.2(VWF):c.3845T>G VWF substitution exon 1 VWF_c.3853T>C NM_000552.2(VWF):c.3853T>C VWF substitution exon 1 VWF_c.3854C>T NM_000552.2(VWF):c.3854C>T VWF substitution exon 1 VWF_c.3863T>G NM_000552.2(VWF):c.3863T>G VWF substitution exon 1 VWF_c.3877T>C NM_000552.2(VWF):c.3877T>C VWF substitution exon 1 VWF_c.3887T>C NM_000552.2(VWF):c.3887T>C VWF substitution exon 1 VWF_c.3905A>G NM_000552.2(VWF):c.3905A>G VWF substitution exon 1 VWF_c.3910A>G NM_000552.2(VWF):c.3910A>G VWF substitution exon 1 VWF_c.3912_3913insATG NM_000552.2(VWF):c.3912_3913insATG VWF insertion exon 1 VWF_c.3916C>T NM_000552.2(VWF):c.3916C>T VWF substitution exon 1 VWF_c.3917G>A NM_000552.2(VWF):c.3917G>A VWF substitution exon 1 VWF_c.3917G>T NM_000552.2(VWF):c.3917G>T VWF substitution exon 1 VWF_c.3920T>C NM_000552.2(VWF):c.3920T>C VWF substitution exon 1 VWF_c.3922C>T NM_000552.2(VWF):c.3922C>T VWF substitution exon 1 VWF_c.3923G>A NM_000552.2(VWF):c.3923G>A VWF substitution exon 1 VWF_c.3923G>C NM_000552.2(VWF):c.3923G>C VWF substitution exon 1 VWF_c.3925A>G NM_000552.2(VWF):c.3925A>G VWF substitution exon 1 VWF_c.3929C>T NM_000552.2(VWF):c.3929C>T VWF substitution exon 1 VWF_c.3931C>T NM_000552.2(VWF):c.3931C>T VWF substitution exon 1 VWF_c.3939G>C NM_000552.2(VWF):c.3939G>C VWF substitution exon 1 VWF_c.3940G>C NM_000552.2(VWF):c.3940G>C VWF substitution exon 1 VWF_c.3940G>T NM_000552.2(VWF):c.3940G>T VWF substitution exon 1 VWF_c.3941T>A NM_000552.2(VWF):c.3941T>A VWF substitution exon 1 VWF_c.3943C>T NM_000552.2(VWF):c.3943C>T VWF substitution exon 1 VWF_c.3944G>A NM_000552.2(VWF):c.3944G>A VWF substitution exon 1 VWF_c.3944G>T NM_000552.2(VWF):c.3944G>T VWF substitution exon 1 VWF_c.3946G>A NM_000552.2(VWF):c.3946G>A VWF substitution exon 1 VWF_c.3970G>A NM_000552.2(VWF):c.3970G>A VWF substitution exon 1 VWF_c.3971G>C NM_000552.2(VWF):c.3971G>C VWF substitution exon 1 VWF_c.4010C>T NM_000552.2(VWF):c.4010C>T VWF substitution exon 1 VWF_c.4013C>G NM_000552.2(VWF):c.4013C>G VWF substitution exon 1 VWF_c.4021C>T NM_000552.2(VWF):c.4021C>T VWF substitution exon 1 VWF_c.4022G>A NM_000552.2(VWF):c.4022G>A VWF substitution exon 1 VWF_c.4022G>C NM_000552.2(VWF):c.4022G>C VWF substitution exon 1 VWF_c.4022G>T NM_000552.2(VWF):c.4022G>T VWF substitution exon 1 VWF_c.4024C>T NM_000552.2(VWF):c.4024C>T VWF substitution exon 1 VWF_c.4027A>G NM_000552.2(VWF):c.4027A>G VWF substitution exon 1 VWF_c.4036C>T NM_000552.2(VWF):c.4036C>T VWF substitution exon 1 VWF_c.4054_4158dup NM_000552.2(VWF):c.4054_4158dup VWF duplication exon 1 VWF_c.4075G>A NM_000552.2(VWF):c.4075G>A VWF substitution exon 1 VWF_c.4079T>C NM_000552.2(VWF):c.4079T>C VWF substitution exon 1 VWF_c.4082T>C NM_000552.2(VWF):c.4082T>C VWF substitution exon 1 VWF_c.4085A>C NM_000552.2(VWF):c.4085A>C VWF substitution exon 1 VWF_c.4092_4093delAC NM_000552.2(VWF):c.4092_4093delAC VWF deletion exon 1 VWF_c.4105T>A NM_000552.2(VWF):c.4105T>A VWF substitution exon 1 VWF_c.4115T>G NM_000552.2(VWF):c.4115T>G VWF substitution exon 1 VWF_c.4120C>A NM_000552.2(VWF):c.4120C>A VWF substitution exon 1 VWF_c.4120C>T NM_000552.2(VWF):c.4120C>T VWF substitution exon 1 VWF_c.4121G>A NM_000552.2(VWF):c.4121G>A VWF substitution exon 1 VWF_c.4121G>T NM_000552.2(VWF):c.4121G>T VWF substitution exon 1 VWF_c.4133C>T NM_000552.2(VWF):c.4133C>T VWF substitution exon 1 VWF_c.4135C>T NM_000552.2(VWF):c.4135C>T VWF substitution exon 1 VWF_c.4148T>C NM_000552.2(VWF):c.4148T>C VWF substitution exon 1 VWF_c.4148T>G NM_000552.2(VWF):c.4148T>G VWF substitution exon 1 VWF_c.4173_4205del NM_000552.2(VWF):c.4173_4205del VWF deletion exon 1 VWF_c.4195C>T NM_000552.2(VWF):c.4195C>T VWF substitution exon 1 VWF_c.4222_4224delAAG NM_000552.2(VWF):c.4222_4224delAAG VWF deletion exon 1 VWF_c.4238C>T NM_000552.2(VWF):c.4238C>T VWF substitution exon 1 VWF_c.4244G>A NM_000552.2(VWF):c.4244G>A VWF substitution exon 1 VWF_c.4247T>A NM_000552.2(VWF):c.4247T>A VWF substitution exon 1 VWF_c.4263C>G NM_000552.2(VWF):c.4263C>G VWF substitution exon 1 VWF_c.4273A>T NM_000552.2(VWF):c.4273A>T VWF substitution exon 1 VWF_c.4309G>A NM_000552.2(VWF):c.4309G>A VWF substitution exon 1 VWF_c.4339G>C NM_000552.2(VWF):c.4339G>C VWF substitution exon 1 VWF_c.4368C>A NM_000552.2(VWF):c.4368C>A VWF substitution exon 1 VWF_c.4368C>G NM_000552.2(VWF):c.4368C>G VWF substitution exon 1 VWF_c.4373G>A NM_000552.2(VWF):c.4373G>A VWF substitution exon 1 VWF_c.4378C>G NM_000552.2(VWF):c.4378C>G VWF substitution exon 1 VWF_c.4382C>A NM_000552.2(VWF):c.4382C>A VWF substitution exon 1 VWF_c.4382C>T NM_000552.2(VWF):c.4382C>T VWF substitution exon 1 VWF_c.4384C>G NM_000552.2(VWF):c.4384C>G VWF substitution exon 1 VWF_c.4399C>T NM_000552.2(VWF):c.4399C>T VWF substitution exon 1 VWF_c.4414dupC NM_000552.2(VWF):c.4414dupC VWF duplication exon 1 VWF_c.4415_4416insG NM_000552.2(VWF):c.4415_4416insG VWF insertion exon 1 VWF_c.4423C>T NM_000552.2(VWF):c.4423C>T VWF substitution exon 1 VWF_c.4453delG NM_000552.2(VWF):c.4453delG VWF deletion exon 1 VWF_c.4499C>A NM_000552.2(VWF):c.4499C>A VWF substitution exon 1 VWF_c.4508T>A NM_000552.2(VWF):c.4508T>A VWF substitution exon 1 VWF_c.4508T>C NM_000552.2(VWF):c.4508T>C VWF substitution exon 1 VWF_c.4508T>G NM_000552.2(VWF):c.4508T>G VWF substitution exon 1 VWF_c.4513G>C NM_000552.2(VWF):c.4513G>C VWF substitution exon 1 VWF_c.4514G>A NM_000552.2(VWF):c.4514G>A VWF substitution exon 1 VWF_c.4517C>T NM_000552.2(VWF):c.4517C>T VWF substitution exon 1 VWF_c.4541T>G NM_000552.2(VWF):c.4541T>G VWF substitution exon 1 VWF_c.4552A>G NM_000552.2(VWF):c.4552A>G VWF substitution exon 1 VWF_c.4570delG NM_000552.2(VWF):c.4570delG VWF deletion exon 1 VWF_c.4604_4612delTCCACGTCA NM_000552.2(VWF):c.4604_4612delTCCACGTCA VWF deletion exon 1 VWF_c.4616T>A NM_000552.2(VWF):c.4616T>A VWF substitution exon 1 VWF_c.4619T>C NM_000552.2(VWF):c.4619T>C VWF substitution exon 1 VWF_c.4626C>G NM_000552.2(VWF):c.4626C>G VWF substitution exon 1 VWF_c.4628C>T NM_000552.2(VWF):c.4628C>T VWF substitution exon 1 VWF_c.4635delG NM_000552.2(VWF):c.4635delG VWF deletion exon 1 VWF_c.4637_4645del NM_000552.2(VWF):c.4637_4645del VWF deletion exon 1 VWF_c.4645G>A NM_000552.2(VWF):c.4645G>A VWF substitution exon 1 VWF_c.4667A>G NM_000552.2(VWF):c.4667A>G VWF substitution exon 1 VWF_c.4685T>C NM_000552.2(VWF):c.4685T>C VWF substitution exon 1 VWF_c.4696C>T NM_000552.2(VWF):c.4696C>T VWF substitution exon 1 VWF_c.4703T>A NM_000552.2(VWF):c.4703T>A VWF substitution exon 1 VWF_c.4717G>A NM_000552.2(VWF):c.4717G>A VWF substitution exon 1 VWF_c.4735G>A NM_000552.2(VWF):c.4735G>A VWF substitution exon 1 VWF_c.4738C>G NM_000552.2(VWF):c.4738C>G VWF substitution exon 1 VWF_c.4739T>C NM_000552.2(VWF):c.4739T>C VWF substitution exon 1 VWF_c.4747C>T NM_000552.2(VWF):c.4747C>T VWF substitution exon 1 VWF_c.4751A>G NM_000552.2(VWF):c.4751A>G VWF substitution exon 1 VWF_c.4789C>G NM_000552.2(VWF):c.4789C>G VWF substitution exon 1 VWF_c.4789C>T NM_000552.2(VWF):c.4789C>T VWF substitution exon 1 VWF_c.4790G>A NM_000552.2(VWF):c.4790G>A VWF substitution exon 1 VWF_c.4790G>T NM_000552.2(VWF):c.4790G>T VWF substitution exon 1 VWF_c.4808T>C NM_000552.2(VWF):c.4808T>C VWF substitution exon 1 VWF_c.4810G>T NM_000552.2(VWF):c.4810G>T VWF substitution exon 1 VWF_c.4820T>A NM_000552.2(VWF):c.4820T>A VWF substitution exon 1 VWF_c.4825G>A NM_000552.2(VWF):c.4825G>A VWF substitution exon 1 VWF_c.4837T>C NM_000552.2(VWF):c.4837T>C VWF substitution exon 1 VWF_c.4841A>G NM_000552.2(VWF):c.4841A>G VWF substitution exon 1 VWF_c.4880C>A NM_000552.2(VWF):c.4880C>A VWF substitution exon 1 VWF_c.4883T>C NM_000552.2(VWF):c.4883T>C VWF substitution exon 1 VWF_c.4885G>A NM_000552.2(VWF):c.4885G>A VWF substitution exon 1 VWF_c.4886delG NM_000552.2(VWF):c.4886delG VWF deletion exon 1 VWF_c.4889T>A NM_000552.2(VWF):c.4889T>A VWF substitution exon 1 VWF_c.4912G>A NM_000552.2(VWF):c.4912G>A VWF substitution exon 1 VWF_c.4916T>C NM_000552.2(VWF):c.4916T>C VWF substitution exon 1 VWF_c.4942C>T NM_000552.2(VWF):c.4942C>T VWF substitution exon 1 VWF_c.4943C>G NM_000552.2(VWF):c.4943C>G VWF substitution exon 1 VWF_c.4944delT NM_000552.2(VWF):c.4944delT VWF deletion exon 1 VWF_c.4969C>A NM_000552.2(VWF):c.4969C>A VWF substitution exon 1 VWF_c.4970T>A NM_000552.2(VWF):c.4970T>A VWF substitution exon 1 VWF_c.4971dupC NM_000552.2(VWF):c.4971dupC VWF duplication exon 1 VWF_c.4975C>T NM_000552.2(VWF):c.4975C>T VWF substitution exon 1 VWF_c.4994T>A NM_000552.2(VWF):c.4994T>A VWF substitution exon 1 VWF_c.5004G>T NM_000552.2(VWF):c.5004G>T VWF substitution exon 1 VWF_c.5014G>A NM_000552.2(VWF):c.5014G>A VWF substitution exon 1 VWF_c.5023_5024delCTinsTA NM_000552.2(VWF):c.5023_5024delCTinsTA VWF complex exon 1 VWF_c.5053+1G>A NM_000552.2(VWF):c.5053+1G>A VWF substitution intron 1 VWF_c.5053+1G>T NM_000552.2(VWF):c.5053+1G>T VWF substitution intron 1 VWF_c.5170+10C>T NM_000552.2(VWF):c.5170+10C>T VWF substitution intron 1 VWF_c.5180_5181insTT NM_000552.2(VWF):c.5180_5181insTT VWF insertion exon 1 VWF_c.5191T>A NM_000552.2(VWF):c.5191T>A VWF substitution exon 1 VWF_c.5235G>T NM_000552.2(VWF):c.5235G>T VWF substitution exon 1 VWF_c.5278G>A NM_000552.2(VWF):c.5278G>A VWF substitution exon 1 VWF_c.5321T>C NM_000552.2(VWF):c.5321T>C VWF substitution exon 1 VWF_c.5335C>T NM_000552.2(VWF):c.5335C>T VWF substitution exon 1 VWF_c.5347T>G NM_000552.2(VWF):c.5347T>G VWF substitution exon 1 VWF_c.5356C>G NM_000552.2(VWF):c.5356C>G VWF substitution exon 1 VWF_c.5380A>G NM_000552.2(VWF):c.5380A>G VWF substitution exon 1 VWF_c.5453A>G NM_000552.2(VWF):c.5453A>G VWF substitution exon 1 VWF_c.5465T>G NM_000552.2(VWF):c.5465T>G VWF substitution exon 1 VWF_c.5471C>A NM_000552.2(VWF):c.5471C>A VWF substitution exon 1 VWF_c.5545G>A NM_000552.2(VWF):c.5545G>A VWF substitution exon 1 VWF_c.5557C>T NM_000552.2(VWF):c.5557C>T VWF substitution exon 1 VWF_c.5890C>A NM_000552.2(VWF):c.5890C>A VWF substitution exon 1 VWF_c.5941G>T NM_000552.2(VWF):c.5941G>T VWF substitution exon 1 VWF_c.6182delT NM_000552.2(VWF):c.6182delT VWF deletion exon 1 VWF_c.6187C>T NM_000552.2(VWF):c.6187C>T VWF substitution exon 1 VWF_c.6311C>T NM_000552.2(VWF):c.6311C>T VWF substitution exon 1 VWF_c.6385G>T NM_000552.2(VWF):c.6385G>T VWF substitution exon 1 VWF_c.6433C>T NM_000552.2(VWF):c.6433C>T VWF substitution exon 1 VWF_c.6520T>G NM_000552.2(VWF):c.6520T>G VWF substitution exon 1 VWF_c.6536C>T NM_000552.2(VWF):c.6536C>T VWF substitution exon 1 VWF_c.6554G>A NM_000552.2(VWF):c.6554G>A VWF substitution exon 1 VWF_c.6599-20A>T NM_000552.2(VWF):c.6599-20A>T VWF substitution intron 1 VWF_c.6620T>C NM_000552.2(VWF):c.6620T>C VWF substitution exon 1 VWF_c.6697G>C NM_000552.2(VWF):c.6697G>C VWF substitution exon 1 VWF_c.6769T>A NM_000552.2(VWF):c.6769T>A VWF substitution exon 1 VWF_c.6798+1G>T NM_000552.2(VWF):c.6798+1G>T VWF substitution intron 1 VWF_c.6859C>T NM_000552.2(VWF):c.6859C>T VWF substitution exon 1 VWF_c.6911G>A NM_000552.2(VWF):c.6911G>A VWF substitution exon 1 VWF_c.6932G>A NM_000552.2(VWF):c.6932G>A VWF substitution exon 1 VWF_c.6938G>A NM_000552.2(VWF):c.6938G>A VWF substitution exon 1 VWF_c.6977-1G>C NM_000552.2(VWF):c.6977-1G>C VWF substitution intron 1 VWF_c.7018T>C NM_000552.2(VWF):c.7018T>C VWF substitution exon 1 VWF_c.7028G>T NM_000552.2(VWF):c.7028G>T VWF substitution exon 1 VWF_c.7082-2A>G NM_000552.2(VWF):c.7082-2A>G VWF substitution intron 1 VWF_c.7085G>T NM_000552.2(VWF):c.7085G>T VWF substitution exon 1 VWF_c.7125dupC NM_000552.2(VWF):c.7125dupC VWF duplication exon 1 VWF_c.7130dupC NM_000552.2(VWF):c.7130dupC VWF duplication exon 1 VWF_c.7135C>T NM_000552.2(VWF):c.7135C>T VWF substitution exon 1 VWF_c.7137dupT NM_000552.2(VWF):c.7137dupT VWF duplication exon 1 VWF_c.7176T>G NM_000552.2(VWF):c.7176T>G VWF substitution exon 1 VWF_c.7294_7295delGT NM_000552.2(VWF):c.7294_7295delGT VWF deletion exon 1 VWF_c.7300C>T NM_000552.2(VWF):c.7300C>T VWF substitution exon 1 VWF_c.7321G>T NM_000552.2(VWF):c.7321G>T VWF substitution exon 1 VWF_c.7377_7393dupCGTGATGGGCCTCCGCG NM_000552.2(VWF):c.7377_7393dupCGTGATGGGCCTCCGCG VWF duplication exon 1 VWF_c.7390C>T NM_000552.2(VWF):c.7390C>T VWF substitution exon 1 VWF_c.7405T>C NM_000552.2(VWF):c.7405T>C VWF substitution exon 1 VWF_c.7408C>T NM_000552.2(VWF):c.7408C>T VWF substitution exon 1 VWF_c.7430G>A NM_000552.2(VWF):c.7430G>A VWF substitution exon 1 VWF_c.7430G>C NM_000552.2(VWF):c.7430G>C VWF substitution exon 1 VWF_c.7437+1G>A NM_000552.2(VWF):c.7437+1G>A VWF substitution intron 1 VWF_c.7437G>A NM_000552.2(VWF):c.7437G>A VWF substitution exon 1 VWF_c.7449_7450insA NM_000552.2(VWF):c.7449_7450insA VWF insertion exon 1 VWF_c.7489T>C NM_000552.2(VWF):c.7489T>C VWF substitution exon 1 VWF_c.7552G>A NM_000552.2(VWF):c.7552G>A VWF substitution exon 1 VWF_c.7559A>C NM_000552.2(VWF):c.7559A>C VWF substitution exon 1 VWF_c.7599T>A NM_000552.2(VWF):c.7599T>A VWF substitution exon 1 VWF_c.7603C>T NM_000552.2(VWF):c.7603C>T VWF substitution exon 1 VWF_c.7630C>T NM_000552.2(VWF):c.7630C>T VWF substitution exon 1 VWF_c.7636A>T NM_000552.2(VWF):c.7636A>T VWF substitution exon 1 VWF_c.7664_7665insAG NM_000552.2(VWF):c.7664_7665insAG VWF insertion exon 1 VWF_c.7674dupC NM_000552.2(VWF):c.7674dupC VWF duplication exon 1 VWF_c.7683delT NM_000552.2(VWF):c.7683delT VWF deletion exon 1 VWF_c.7729+7C>T NM_000552.2(VWF):c.7729+7C>T VWF substitution intron 1 VWF_c.7730-1G>C NM_000552.2(VWF):c.7730-1G>C VWF substitution intron 1 VWF_c.7940C>T NM_000552.2(VWF):c.7940C>T VWF substitution exon 1 VWF_c.8012G>A NM_000552.2(VWF):c.8012G>A VWF substitution exon 1 VWF_c.8078G>A NM_000552.2(VWF):c.8078G>A VWF substitution exon 1 VWF_c.8155+3G>C NM_000552.2(VWF):c.8155+3G>C VWF substitution intron 1 VWF_c.8155+3G>T NM_000552.2(VWF):c.8155+3G>T VWF substitution intron 1 VWF_c.8164C>G NM_000552.2(VWF):c.8164C>G VWF substitution exon 1 VWF_c.8187_8194del NM_000552.2(VWF):c.8187_8194del VWF deletion exon 1 VWF_c.8216G>A NM_000552.2(VWF):c.8216G>A VWF substitution exon 1 VWF_c.8241_8249del NM_000552.2(VWF):c.8241_8249del VWF deletion exon 1 VWF_c.8262T>G NM_000552.2(VWF):c.8262T>G VWF substitution exon 1 VWF_c.8311T>A NM_000552.2(VWF):c.8311T>A VWF substitution exon 1 VWF_c.8312G>A NM_000552.2(VWF):c.8312G>A VWF substitution exon 1 VWF_c.8316delC NM_000552.2(VWF):c.8316delC VWF deletion exon 1 VWF_c.8317T>C NM_000552.2(VWF):c.8317T>C VWF substitution exon 1 VWF_c.8318G>C NM_000552.2(VWF):c.8318G>C VWF substitution exon 1 VWF_c.8327C>T NM_000552.2(VWF):c.8327C>T VWF substitution exon 1 VWF_c.8341C>T NM_000552.2(VWF):c.8341C>T VWF substitution exon 1 VWF_c.8402C>A NM_000552.2(VWF):c.8402C>A VWF substitution exon 1 VWF_c.8411G>A NM_000552.2(VWF):c.8411G>A VWF substitution exon 1 VWF_c.8412_8413insTCCCC NM_000552.2(VWF):c.8412_8413insTCCCC VWF insertion exon 1 VWF_c.8416T>C NM_000552.2(VWF):c.8416T>C VWF substitution exon 1 VWF_c.-44001_8442*35068del NM_000552.2(VWF):c.-44001_8442*35068del VWF deletion not within known transcription unit 1 VWF_c.-30071_56+3445del NM_000552.2(VWF):c.-30071_56+3445del VWF deletion not within known transcription unit 1 VWF_c.221-977_532+7059del NM_000552.2(VWF):c.221-977_532+7059del VWF deletion not within known transcription unit 1 VWF_c.532+1267_2187-251del NM_000552.2(VWF):c.532+1267_2187-251del VWF deletion not within known transcription unit 1 VWF_c.3380-298_5843-1385del NM_000552.2(VWF):c.3380-298_5843-1385del VWF deletion not within known transcription unit 1 VWF_c.5621-269_6799-1161del NM_000552.2(VWF):c.5621-269_6799-1161del VWF deletion not within known transcription unit 1 VWF_c.7081+88_7287+1044del NM_000552.2(VWF):c.7081+88_7287+1044del VWF deletion not within known transcription unit 1 VWF_c.-1522_-1510delCATTGTTTCCTTT NM_000552.2(VWF):c.-1522_-1510delCATTGTTTCCTTT VWF deletion not within known transcription unit 1 VWF_c.-1665G>C NM_000552.2(VWF):c.-1665G>C VWF substitution not within known transcription unit 1 VWF_c.-1873A>G NM_000552.2(VWF):c.-1873A>G VWF substitution not within known transcription unit 1 VWF_c.-1886A>C NM_000552.2(VWF):c.-1886A>C VWF substitution not within known transcription unit 1 VWF_c.-1896C>T NM_000552.2(VWF):c.-1896C>T VWF substitution not within known transcription unit 1 VWF_c.-2328T>G NM_000552.2(VWF):c.-2328T>G VWF substitution not within known transcription unit 1 VWF_c.-2487G>A NM_000552.2(VWF):c.-2487G>A VWF substitution not within known transcription unit 1 VWF_c.-2535G>A NM_000552.2(VWF):c.-2535G>A VWF substitution not within known transcription unit 1 VWF_c.-2615A>G NM_000552.2(VWF):c.-2615A>G VWF substitution not within known transcription unit 1 VWF_c.-2641G>A NM_000552.2(VWF):c.-2641G>A VWF substitution not within known transcription unit 1 VWF_c.-2715G>A NM_000552.2(VWF):c.-2715G>A VWF substitution not within known transcription unit 1 VWF_c.-2731C>T NM_000552.2(VWF):c.-2731C>T VWF substitution not within known transcription unit 1 VAR_053346 Q9NYW1:p.Leu238Val SP substitution exon 1 VAR_053347 Q9NYV8:p.Thr86Ala SP substitution exon 1 VAR_053348 P59534:p.Ser193Phe SP substitution exon 1 VAR_053349 P59534:p.Lys197Glu SP substitution exon 1 VAR_053350 P59535:p.Val23Leu SP substitution exon 1 VAR_053351 P59535:p.Ser187Tyr SP substitution exon 1 VAR_053352 Q7RTR8:p.Phe196Ser SP substitution exon 1 VAR_053353 Q7RTR8:p.Tyr265Cys SP substitution exon 1 VAR_053354 P59542:p.Lys126Gln SP substitution exon 1 VAR_053355 P59542:p.Arg299Cys SP substitution exon 1 VAR_053356 P59543:p.Lys79Glu SP substitution exon 1 VAR_053357 P59543:p.His143Gln SP substitution exon 1 VAR_053358 P59543:p.His148Asn SP substitution exon 1 VAR_053359 P59543:p.Ile236Val SP substitution exon 1 VAR_053360 P59543:p.Phe252Ser SP substitution exon 1 VAR_053361 P59543:p.Arg255Leu SP substitution exon 1 VAR_053362 Q16661:p.Pro11Thr SP substitution exon 1 VAR_053363 Q9NRV9:p.Glu183Asp SP substitution exon 1 VAR_053364 Q9Y5Z4:p.Arg140Gln SP substitution exon 1 VAR_053365 Q9Y5Z4:p.Glu191Ala SP substitution exon 1 VAR_053366 Q9NSB8:p.Arg219His SP substitution exon 1 VAR_053367 Q9NSB8:p.Ile239Ser SP substitution exon 1 VAR_053368 P14902:p.Ala4Thr SP substitution exon 1 VAR_053369 Q9UI47:p.Ser596Asn SP substitution exon 1 VAR_053370 Q9UBT7:p.Asp555Glu SP substitution exon 1 VAR_053371 Q8WZA0:p.Gly104Asp SP substitution exon 1 VAR_053372 Q14005:p.His1176Arg SP substitution exon 1 VAR_053373 Q01638:p.Ala433Thr SP substitution exon 1 VAR_053374 Q01638:p.Gln501Lys SP substitution exon 1 VAR_053375 Q01638:p.Gln501Arg SP substitution exon 1 VAR_053376 Q01638:p.Thr549Ile SP substitution exon 1 VAR_053377 Q01638:p.Leu551Ser SP substitution exon 1 VAR_053378 Q9HB29:p.Ile237Thr SP substitution exon 1 VAR_053379 Q13478:p.Arg210His SP substitution exon 1 VAR_053380 Q13478:p.Asn232Lys SP substitution exon 1 VAR_053381 Q13478:p.Ser310Asn SP substitution exon 1 VAR_053382 Q13478:p.Gly423Arg SP substitution exon 1 VAR_053383 Q9NPH3:p.Val473Met SP substitution exon 1 VAR_053384 Q8IZJ0:p.Thr10Met SP substitution exon 1 VAR_053385 Q8IZJ0:p.Thr112Ala SP substitution exon 1 VAR_053386 Q676U5:p.Glu307Lys SP substitution exon 1 VAR_053387 Q13112:p.Lys506Gln SP substitution exon 1 VAR_053388 Q969X6:p.Arg438His SP substitution exon 1 VAR_053389 Q9BR76:p.Arg476Leu SP substitution exon 1 VAR_053390 Q92828:p.Arg296His SP substitution exon 1 VAR_053391 Q92828:p.Arg495Leu SP substitution exon 1 VAR_053392 Q13216:p.Ser150Cys SP substitution exon 1 VAR_053394 Q9BYB4:p.Glu30Lys SP substitution exon 1 VAR_053395 Q9BYB4:p.Arg37His SP substitution exon 1 VAR_053396 Q96RY7:p.Asp165Ala SP substitution exon 1 VAR_053397 Q96RY7:p.Arg279Pro SP substitution exon 1 VAR_053398 Q96RY7:p.Arg280Gln SP substitution exon 1 VAR_053399 Q96RY7:p.Val398Ile SP substitution exon 1 VAR_053400 Q96RY7:p.Ala451Val SP substitution exon 1 VAR_053401 Q96RY7:p.Arg621Gln SP substitution exon 1 VAR_053402 Q96RY7:p.Pro670Ser SP substitution exon 1 VAR_053403 Q96RY7:p.Ala1070Val SP substitution exon 1 VAR_053404 Q99698:p.Glu702Gly SP substitution exon 1 VAR_053405 Q99698:p.Ser1017Asn SP substitution exon 1 VAR_053406 Q99698:p.Gln1949His SP substitution exon 1 VAR_053407 Q99698:p.Phe2598Tyr SP substitution exon 1 VAR_053408 Q99698:p.Gly2804Asp SP substitution exon 1 VAR_053409 Q99698:p.Val2936Ile SP substitution exon 1 VAR_053410 Q9BRX9:p.Gly278Ser SP substitution exon 1 VAR_053411 Q9BRX9:p.Arg304Gln SP substitution exon 1 VAR_053412 Q15269:p.Glu174Lys SP substitution exon 1 VAR_053413 P55735:p.Ser172Leu SP substitution exon 1 VAR_053414 O94979:p.Asn456Lys SP substitution exon 1 VAR_053415 Q9NQW1:p.Arg433Gln SP substitution exon 1 VAR_053416 Q9NQW1:p.Arg478Thr SP substitution exon 1 VAR_053417 Q96EE3:p.Thr342Asn SP substitution exon 1 VAR_053418 Q8N0X2:p.Pro324Thr SP substitution exon 1 VAR_053419 Q9NRL3:p.Val568Ile SP substitution exon 1 VAR_053421 Q04726:p.Ala229Val SP substitution exon 1 VAR_053422 O75717:p.Phe338Leu SP substitution exon 1 VAR_053423 O75717:p.Leu411Pro SP substitution exon 1 VAR_053426 Q8NA23:p.Pro113Ser SP substitution exon 1 VAR_053427 Q9C0J8:p.Pro711Arg SP substitution exon 1 VAR_053428 Q9P2L0:p.Gln18Arg SP substitution exon 1 VAR_053429 Q9P2L0:p.Glu983Gly SP substitution exon 1 VAR_053430 Q8NI36:p.Glu454Gln SP substitution exon 1 VAR_053431 Q5JTN6:p.His172Arg SP substitution exon 1 VAR_053432 Q5JTN6:p.Ala193Gly SP substitution exon 1 VAR_053435 Q96MT7:p.Lys284Asn SP substitution exon 1 VAR_053436 Q6PJI9:p.Pro201Thr SP substitution exon 1 VAR_053437 Q9BTV6:p.Gly158Arg SP substitution exon 1 VAR_053438 Q96MX6:p.Met241Val SP substitution exon 1 VAR_053439 Q5MNZ9:p.Arg308His SP substitution exon 1 VAR_053440 Q9H2Y7:p.Trp103Arg SP substitution exon 1 VAR_053441 Q9H2Y7:p.Ile646Thr SP substitution exon 1 VAR_053442 Q9H2Y7:p.Met656Val SP substitution exon 1 VAR_053444 P27987:p.Ala322Thr SP substitution exon 1 VAR_053445 Q9HDC5:p.Thr507Met SP substitution exon 1 VAR_053447 Q9BR39:p.Ala396Thr SP substitution exon 1 VAR_053448 Q9BTA9:p.Thr309Ala SP substitution exon 1 VAR_053449 Q8IX03:p.Met734Ile SP substitution exon 1 VAR_053450 Q8IX03:p.Ser735Ala SP substitution exon 1 VAR_053451 Q9UHI7:p.Ile218Val SP substitution exon 1 VAR_053452 Q9UHI7:p.Met258Val SP substitution exon 1 VAR_053453 Q9UHI7:p.Val264Met SP substitution exon 1 VAR_053454 Q9BYR7:p.Ser8Gly SP substitution exon 1 VAR_053455 Q9BYR7:p.Arg27Cys SP substitution exon 1 VAR_053456 Q9BYR7:p.Ile46Thr SP substitution exon 1 VAR_053457 Q9BYR4:p.Pro122Ser SP substitution exon 1 VAR_053458 Q9BYR4:p.Pro152Ser SP substitution exon 1 VAR_053459 Q9BYR3:p.Tyr25Cys SP substitution exon 1 VAR_053460 Q9BYR3:p.Cys35Ser SP substitution exon 1 VAR_053461 Q9BYR3:p.Arg154Ser SP substitution exon 1 VAR_053462 P60368:p.Pro177Leu SP substitution exon 1 VAR_053463 P60014:p.Val20Asp SP substitution exon 1 VAR_053464 P60014:p.Val158Met SP substitution exon 1 VAR_053465 P60413:p.Pro146Gln SP substitution exon 1 VAR_053466 P60413:p.Gly226Ser SP substitution exon 1 VAR_053467 Q8IUC1:p.Cys111Ser SP substitution exon 1 VAR_053468 P59991:p.Ala116Val SP substitution exon 1 VAR_053469 P59991:p.Ser143Pro SP substitution exon 1 VAR_053470 Q52LG2:p.Arg26Cys SP substitution exon 1 VAR_053471 Q52LG2:p.Ser74Arg SP substitution exon 1 VAR_053472 Q3LI77:p.Arg154His SP substitution exon 1 VAR_053473 Q3LHN2:p.Tyr5His SP substitution exon 1 VAR_053474 Q3LHN2:p.Gly32Cys SP substitution exon 1 VAR_053475 Q3LI73:p.Tyr48Cys SP substitution exon 1 VAR_053476 Q3LI54:p.Ala61Thr SP substitution exon 1 VAR_053477 Q6PEX3:p.Ser26Tyr SP substitution exon 1 VAR_053478 Q6PEX3:p.Pro188Thr SP substitution exon 1 VAR_053479 Q3LI81:p.Ala99Val SP substitution exon 1 VAR_053480 Q9NS86:p.Ile74Val SP substitution exon 1 VAR_053481 Q5T751:p.Cys16Tyr SP substitution exon 1 VAR_053482 O14633:p.Ile51Ser SP substitution exon 1 VAR_053483 Q5TA82:p.Cys92Tyr SP substitution exon 1 VAR_053484 Q5TA76:p.Arg59Cys SP substitution exon 1 VAR_053485 Q9BYE3:p.Gly43Val SP substitution exon 1 VAR_053486 Q5TA78:p.Gly95Val SP substitution exon 1 VAR_053487 Q5TCM9:p.Cys40Tyr SP substitution exon 1 VAR_053488 Q8N145:p.Ala524Thr SP substitution exon 1 VAR_053489 Q9BQK8:p.Gln679His SP substitution exon 1 VAR_053490 Q9Y250:p.Ser50Phe SP substitution exon 1 VAR_053491 P43355:p.Ala63Thr SP substitution exon 1 VAR_053492 P43359:p.Gln29His SP substitution exon 1 VAR_053493 P43360:p.Ser152Ile SP substitution exon 1 VAR_053494 P43361:p.Arg121His SP substitution exon 1 VAR_053495 P43361:p.Ser306Phe SP substitution exon 1 VAR_053496 P43363:p.Val234Ile SP substitution exon 1 VAR_053497 P43364:p.Ser191Arg SP substitution exon 1 VAR_053498 P43365:p.Glu57Asp SP substitution exon 1 VAR_053499 P43366:p.Arg267Cys SP substitution exon 1 VAR_053500 Q96M61:p.Pro40Ser SP substitution exon 1 VAR_053501 O60732:p.Cys25Tyr SP substitution exon 1 VAR_053502 O60732:p.Thr151Ile SP substitution exon 1 VAR_053503 O60732:p.Gln257His SP substitution exon 1 VAR_053504 O60732:p.Phe276Ser SP substitution exon 1 VAR_053505 Q8TD91:p.Leu165Met SP substitution exon 1 VAR_053506 Q8TD91:p.Ala307Thr SP substitution exon 1 VAR_053507 Q8TD91:p.Ala328Thr SP substitution exon 1 VAR_053508 Q9UNF1:p.Glu187Asp SP substitution exon 1 VAR_053509 Q8TD90:p.Gly291Cys SP substitution exon 1 VAR_053510 Q12816:p.Ser738Gly SP substitution exon 1 VAR_053511 O00566:p.Glu69Ala SP substitution exon 1 VAR_053512 O00566:p.Arg115His SP substitution exon 1 VAR_053513 O00566:p.Asp140Asn SP substitution exon 1 VAR_053515 Q01362:p.Thr143Met SP substitution exon 1 VAR_053517 Q96JQ5:p.Lys52Glu SP substitution exon 1 VAR_053518 Q96DS6:p.Ile6Val SP substitution exon 1 VAR_053519 Q96DS6:p.Thr10Ala SP substitution exon 1 VAR_053520 Q9GZW8:p.Glu34Lys SP substitution exon 1 VAR_053521 Q9GZW8:p.Pro112His SP substitution exon 1 VAR_053522 Q9GZW8:p.Ser157Phe SP substitution exon 1 VAR_053523 Q9BY19:p.Val95Leu SP substitution exon 1 VAR_053524 Q8N5U1:p.Ser20Gly SP substitution exon 1 VAR_053525 Q8N5U1:p.Leu47Arg SP substitution exon 1 VAR_053526 P52961:p.Leu257Pro SP substitution exon 1 VAR_053527 Q9Y6Q9:p.Arg218Cys SP substitution exon 1 VAR_053528 Q9Y6Q9:p.Leu369Phe SP substitution exon 1 VAR_053529 Q9Y6Q9:p.Ser777Ala SP substitution exon 1 VAR_053530 Q9HCD5:p.Glu326Gly SP substitution exon 1 VAR_053531 Q02297:p.Met289Thr SP substitution exon 1 VAR_053533 Q9BZQ8:p.Ser633Leu SP substitution exon 1 VAR_053534 Q9BZQ8:p.Asp692Asn SP substitution exon 1 VAR_053535 Q9BZQ8:p.Val720Met SP substitution exon 1 VAR_053536 Q9BZQ8:p.Gly830Ser SP substitution exon 1 VAR_053537 O43264:p.Ile77Met SP substitution exon 1 VAR_053538 P48645:p.Glu79Gly SP substitution exon 1 VAR_053540 P78316:p.Leu380Ser SP substitution exon 1 VAR_053541 Q9H6R4:p.Pro52Ser SP substitution exon 1 VAR_053542 Q9H6R4:p.Arg723Trp SP substitution exon 1 VAR_053543 Q96SN7:p.Ala15Pro SP substitution exon 1 VAR_053544 Q15646:p.Asn341Ile SP substitution exon 1 VAR_053545 Q3T906:p.Asp190Val SP substitution exon 1 VAR_053546 Q969R2:p.Met760Val SP substitution exon 1 VAR_053548 Q9H4L5:p.Met354Val SP substitution exon 1 VAR_053550 Q9BZF3:p.Pro58Leu SP substitution exon 1 VAR_053551 Q9BZF2:p.Thr156Ile SP substitution exon 1 VAR_053552 P51575:p.Met396Val SP substitution exon 1 VAR_053553 Q68DD2:p.Gly30Val SP substitution exon 1 VAR_053554 Q9BY11:p.Ala334Val SP substitution exon 1 VAR_053555 Q9UNF0:p.Asn175Ser SP substitution exon 1 VAR_053556 Q9UKS6:p.Ala61Val SP substitution exon 1 VAR_053557 Q9ULC6:p.Val649Met SP substitution exon 1 VAR_053558 Q9ULW8:p.Ala582Thr SP substitution exon 1 VAR_053559 Q9ULW8:p.Arg618Gln SP substitution exon 1 VAR_053560 Q9UM07:p.Arg8His SP substitution exon 1 VAR_053561 Q9UM07:p.Thr79Met SP substitution exon 1 VAR_053562 Q9UM07:p.Asp260Asn SP substitution exon 1 VAR_053563 P04155:p.Thr22Ile SP substitution exon 1 VAR_053564 Q03403:p.Arg3Trp SP substitution exon 1 VAR_053565 Q9NQ40:p.Ile74Met SP substitution exon 1 VAR_053566 Q9NQ40:p.Asp174Gly SP substitution exon 1 VAR_053567 Q9NQ40:p.Pro267Leu SP substitution exon 1 VAR_053568 Q9NQ40:p.Thr278Met SP substitution exon 1 VAR_053569 Q9NQ40:p.Ile303Val SP substitution exon 1 VAR_053570 O00541:p.Asp370His SP substitution exon 1 VAR_053571 O00541:p.Ala411Thr SP substitution exon 1 VAR_053572 P56589:p.Gln82Arg SP substitution exon 1 VAR_053573 O95427:p.Lys162Glu SP substitution exon 1 VAR_053574 O95427:p.His229Asp SP substitution exon 1 VAR_053575 O95427:p.Leu469Phe SP substitution exon 1 VAR_053576 O95427:p.Ile470Leu SP substitution exon 1 VAR_053577 O95427:p.Phe904Cys SP substitution exon 1 VAR_053578 O95427:p.Phe904Leu SP substitution exon 1 VAR_053579 Q9BRB3:p.Cys592Arg SP substitution exon 1 VAR_053580 Q9BRB3:p.Cys668Arg SP substitution exon 1 VAR_053581 Q9BRB3:p.Cys668Tyr SP substitution exon 1 VAR_053582 Q96S52:p.Arg253His SP substitution exon 1 VAR_053584 Q9BZ72:p.Pro9Leu SP substitution exon 1 VAR_053585 Q15149:p.Ala641Val SP substitution exon 1 VAR_053586 Q15149:p.Arg2150Trp SP substitution exon 1 VAR_053587 Q15149:p.Ala2194Val SP substitution exon 1 VAR_053588 Q15149:p.Ser2791Pro SP substitution exon 1 VAR_053589 Q15149:p.Arg2821Trp SP substitution exon 1 VAR_053590 Q15149:p.Arg2969His SP substitution exon 1 VAR_053591 Q15149:p.Val3162Ile SP substitution exon 1 VAR_053592 Q15149:p.Ala3171Val SP substitution exon 1 VAR_053593 Q15149:p.Thr3486Met SP substitution exon 1 VAR_053594 Q15149:p.Gly3490Ala SP substitution exon 1 VAR_053595 Q8ND90:p.Met54Val SP substitution exon 1 VAR_053596 Q8ND90:p.Arg215Pro SP substitution exon 1 VAR_053597 Q9UL42:p.Glu186Lys SP substitution exon 1 VAR_053598 Q5VUM1:p.Arg57Cys SP substitution exon 1 VAR_053599 Q9NZ53:p.Val456Ala SP substitution exon 1 VAR_053600 Q8NE79:p.Met127Ile SP substitution exon 1 VAR_053601 Q9HBU9:p.Val29Ile SP substitution exon 1 VAR_053602 Q9HBV1:p.Arg106Gln SP substitution exon 1 VAR_053603 Q15048:p.Gly437Asp SP substitution exon 1 VAR_053604 O95521:p.Leu204Met SP substitution exon 1 VAR_053605 O95521:p.Arg386Ser SP substitution exon 1 VAR_053606 O60811:p.Glu83Lys SP substitution exon 1 VAR_053607 O60810:p.Asp85Glu SP substitution exon 1 VAR_053608 O95522:p.Thr53Lys SP substitution exon 1 VAR_053609 O95522:p.Met157Thr SP substitution exon 1 VAR_053610 P58294:p.Val67Ile SP substitution exon 1 VAR_053611 Q0VDG4:p.Asp18Asn SP substitution exon 1 VAR_053612 P49788:p.Asp158Val SP substitution exon 1 VAR_053613 Q9UJV8:p.Ser26Gly SP substitution exon 1 VAR_053614 Q9UJV8:p.Glu143Lys SP substitution exon 1 VAR_053615 Q9UJV8:p.Glu241Ala SP substitution exon 1 VAR_053616 Q9NX02:p.Thr221Met SP substitution exon 1 VAR_053617 Q9NX02:p.Glu302Gln SP substitution exon 1 VAR_053618 Q86W28:p.Ala543Val SP substitution exon 1 VAR_053619 Q86W28:p.Arg651Trp SP substitution exon 1 VAR_053620 P59046:p.Gly39Val SP substitution exon 1 VAR_053621 P59046:p.Phe402Leu SP substitution exon 1 VAR_053622 Q86W24:p.Glu21Lys SP substitution exon 1 VAR_053623 Q86W24:p.Leu511Phe SP substitution exon 1 VAR_053624 Q9Y239:p.Asp372Asn SP substitution exon 1 VAR_053625 Q9Y239:p.Arg447His SP substitution exon 1 VAR_053626 Q9Y239:p.Arg605Trp SP substitution exon 1 VAR_053627 Q9Y239:p.Ala610Thr SP substitution exon 1 VAR_053628 O60896:p.Met33Leu SP substitution exon 1 VAR_053629 P43487:p.Ala145Val SP substitution exon 1 VAR_053630 Q16799:p.Gly247Glu SP substitution exon 1 VAR_053631 Q16799:p.Ile357Val SP substitution exon 1 VAR_053632 O75298:p.Arg425Gln SP substitution exon 1 VAR_053633 Q9NQC3:p.Asp357Val SP substitution exon 1 VAR_053634 Q9NQC3:p.Glu899Gln SP substitution exon 1 VAR_053635 Q9NQC3:p.Ser920Cys SP substitution exon 1 VAR_053636 Q6ZVN8:p.Ala310Gly SP substitution exon 1 VAR_053637 Q9H310:p.Cys339Arg SP substitution exon 1 VAR_053638 Q9P0N8:p.Arg219Pro SP substitution exon 1 VAR_053639 Q86UD3:p.Arg68Gln SP substitution exon 1 VAR_053640 Q9Y6N7:p.Val336Ala SP substitution exon 1 VAR_053641 Q9Y6N7:p.Ser1091Asn SP substitution exon 1 VAR_053642 Q96MS0:p.Arg416His SP substitution exon 1 VAR_053643 Q8WZ75:p.Gln103Pro SP substitution exon 1 VAR_053644 Q8WZ75:p.Arg669Gln SP substitution exon 1 VAR_053645 Q9C0D0:p.Ile247Met SP substitution exon 1 VAR_053646 O75167:p.Ile449Val SP substitution exon 1 VAR_053647 Q15393:p.Gly908Arg SP substitution exon 1 VAR_053648 O14490:p.Arg816Gln SP substitution exon 1 VAR_053649 Q96BW9:p.Ile179Val SP substitution exon 1 VAR_053650 P04279:p.Glu58Gly SP substitution exon 1 VAR_053651 P04279:p.His108Arg SP substitution exon 1 VAR_053652 O00391:p.Arg605Pro SP substitution exon 1 VAR_053653 Q13571:p.Arg226Lys SP substitution exon 1 VAR_053654 O95907:p.Val405Ala SP substitution exon 1 VAR_053655 O15374:p.Ala185Thr SP substitution exon 1 VAR_053656 O15403:p.Ile121Thr SP substitution exon 1 VAR_053657 O15403:p.Phe204Ile SP substitution exon 1 VAR_053658 O15403:p.Glu217Asp SP substitution exon 1 VAR_053659 O15403:p.Glu221Val SP substitution exon 1 VAR_053660 P40879:p.Arg68Gln SP substitution exon 1 VAR_053661 P40879:p.Arg554Gln SP substitution exon 1 VAR_053662 P40879:p.Asn753Ser SP substitution exon 1 VAR_053663 O43511:p.Pro301Leu SP substitution exon 1 VAR_053664 O43511:p.Asn324Tyr SP substitution exon 1 VAR_053665 O43511:p.Asp687Tyr SP substitution exon 1 VAR_053666 Q8TE54:p.Ile215Val SP substitution exon 1 VAR_053667 Q8TE54:p.Val381Gly SP substitution exon 1 VAR_053668 Q99808:p.Ile216Thr SP substitution exon 1 VAR_053669 Q99808:p.Glu391Lys SP substitution exon 1 VAR_053670 O75387:p.Gly238Val SP substitution exon 1 VAR_053671 O75387:p.His443Tyr SP substitution exon 1 VAR_053672 Q9NPD5:p.Met233Ile SP substitution exon 1 VAR_053673 Q9NPD5:p.Val560Ala SP substitution exon 1 VAR_053675 O94956:p.Val201Met SP substitution exon 1 VAR_053676 O94956:p.Arg312Gln SP substitution exon 1 VAR_053677 O94956:p.Ile392Thr SP substitution exon 1 VAR_053678 Q96BD0:p.Arg70Gln SP substitution exon 1 VAR_053679 Q96BD0:p.Val78Ile SP substitution exon 1 VAR_053680 Q86UG4:p.Pro527Ala SP substitution exon 1 VAR_053681 Q99523:p.Asp358Tyr SP substitution exon 1 VAR_053682 Q6X4U4:p.Gln189His SP substitution exon 1 VAR_053683 Q08648:p.Asp89Gly SP substitution exon 1 VAR_053684 Q5MJ09:p.Val89Ile SP substitution exon 1 VAR_053685 Q8TCT0:p.Ile191Val SP substitution exon 1 VAR_053686 Q8TCT0:p.Thr211Met SP substitution exon 1 VAR_053687 Q8TCT0:p.Leu306Phe SP substitution exon 1 VAR_053688 Q49MI3:p.Leu232Phe SP substitution exon 1 VAR_053690 Q9Y657:p.Ala221Pro SP substitution exon 1 VAR_053691 O75177:p.Ala321Thr SP substitution exon 1 VAR_053694 Q7RTT5:p.Leu43Ser SP substitution exon 1 VAR_053695 Q7RTT3:p.Cys72Arg SP substitution exon 1 VAR_053696 Q9UHE8:p.His47Gln SP substitution exon 1 VAR_053697 Q9UHE8:p.Phe169Leu SP substitution exon 1 VAR_053698 Q8NET6:p.Pro146Ser SP substitution exon 1 VAR_053699 O00560:p.Pro26Thr SP substitution exon 1 VAR_053700 Q9H190:p.Val182Met SP substitution exon 1 VAR_053703 O75410:p.Pro187Leu SP substitution exon 1 VAR_053704 O75410:p.Ile243Thr SP substitution exon 1 VAR_053705 O75410:p.Glu255Gly SP substitution exon 1 VAR_053706 O95359:p.Val170Ile SP substitution exon 1 VAR_053707 O95359:p.Leu830Phe SP substitution exon 1 VAR_053708 O95359:p.Trp1103Arg SP substitution exon 1 VAR_053709 O95359:p.Ala1425Thr SP substitution exon 1 VAR_053710 O95359:p.Pro1492Leu SP substitution exon 1 VAR_053711 O95359:p.Glu1916Lys SP substitution exon 1 VAR_053712 O95359:p.Pro2216Leu SP substitution exon 1 VAR_053713 O95359:p.Glu2271Asp SP substitution exon 1 VAR_053714 Q9Y6A5:p.Glu143Lys SP substitution exon 1 VAR_053715 Q9Y6A5:p.Cys275Tyr SP substitution exon 1 VAR_053716 Q9Y6A5:p.Gly287Ser SP substitution exon 1 VAR_053717 Q9Y6A5:p.Gly514Glu SP substitution exon 1 VAR_053718 P56279:p.Val56Ile SP substitution exon 1 VAR_053719 Q6IQ16:p.Arg45Gln SP substitution exon 1 VAR_053720 Q9UIF3:p.Ile114Thr SP substitution exon 1 VAR_053721 Q9BXF9:p.Arg3His SP substitution exon 1 VAR_053722 Q96M29:p.Ala59Thr SP substitution exon 1 VAR_053723 Q96M29:p.His196Arg SP substitution exon 1 VAR_053724 Q96M29:p.Met239Thr SP substitution exon 1 VAR_053725 Q96M29:p.Gln315Arg SP substitution exon 1 VAR_053726 O14746:p.Ser948Arg SP substitution exon 1 VAR_053727 Q9Y5Q8:p.Asp445Asn SP substitution exon 1 VAR_053728 O15321:p.Leu18Met SP substitution exon 1 VAR_053729 P59025:p.Ala212Gly SP substitution exon 1 VAR_053730 P59025:p.Gln229Glu SP substitution exon 1 VAR_053731 P26371:p.Gly8Arg SP substitution exon 1 VAR_053732 P26371:p.Tyr40Cys SP substitution exon 1 VAR_053733 Q9H7V2:p.Gly54Arg SP substitution exon 1 VAR_053734 O95399:p.Ile12Thr SP substitution exon 1 VAR_053735 Q99990:p.Thr59Ile SP substitution exon 1 VAR_053736 Q7Z5L0:p.Thr26Ala SP substitution exon 1 VAR_053737 Q8IZ57:p.His104Tyr SP substitution exon 1 VAR_053738 Q9GZP1:p.Leu41Val SP substitution exon 1 VAR_053739 Q9GZP1:p.Ser65Cys SP substitution exon 1 VAR_053740 Q5GH77:p.Thr143Met SP substitution exon 1 VAR_053741 Q5GH77:p.Pro232Leu SP substitution exon 1 VAR_053742 Q5GH77:p.Phe255Leu SP substitution exon 1 VAR_053743 Q5GH77:p.His442Asn SP substitution exon 1 VAR_053744 Q9Y5A9:p.Thr217Ser SP substitution exon 1 VAR_053745 Q9Y5A9:p.Pro454Ser SP substitution exon 1 VAR_053747 Q6X784:p.Pro68Ala SP substitution exon 1 VAR_053748 Q6X784:p.Ala118Thr SP substitution exon 1 VAR_053749 Q6X784:p.Ser173Ile SP substitution exon 1 VAR_053750 Q6X784:p.Gln335Glu SP substitution exon 1 VAR_053751 Q9H5U6:p.Pro382Leu SP substitution exon 1 VAR_053752 Q8N8U3:p.Pro117Ser SP substitution exon 1 VAR_053753 Q5VYS8:p.Ala40Val SP substitution exon 1 VAR_053754 Q8WYQ9:p.Ile54Val SP substitution exon 1 VAR_053755 Q8WYQ9:p.Gly244Ala SP substitution exon 1 VAR_053756 Q6ZR62:p.Asp162Tyr SP substitution exon 1 VAR_053757 Q9UHR6:p.Glu155Lys SP substitution exon 1 VAR_053758 Q9UHR6:p.Ala176Val SP substitution exon 1 VAR_053759 Q5VUA4:p.Ser407Ile SP substitution exon 1 VAR_053760 Q5VUA4:p.Leu870Val SP substitution exon 1 VAR_053761 Q5VUA4:p.Thr1292Ile SP substitution exon 1 VAR_053762 Q5VUA4:p.Ala1580Thr SP substitution exon 1 VAR_053763 Q5VUA4:p.Thr1583Ile SP substitution exon 1 VAR_053764 Q5VUA4:p.Val1797Ala SP substitution exon 1 VAR_053765 Q569K4:p.Ser242Gly SP substitution exon 1 VAR_053766 Q5H9K5:p.Arg214Lys SP substitution exon 1 VAR_053767 Q5SVZ6:p.Arg454Gln SP substitution exon 1 VAR_053768 Q5SVZ6:p.Glu493Gly SP substitution exon 1 VAR_053769 Q96MP5:p.Val259Ala SP substitution exon 1 VAR_053770 Q9P217:p.Val368Gly SP substitution exon 1 VAR_053771 Q9UHY8:p.Pro50Leu SP substitution exon 1 VAR_053773 Q86XD8:p.Lys118Thr SP substitution exon 1 VAR_053774 Q86XD8:p.His358Tyr SP substitution exon 1 VAR_053775 Q5J8M3:p.Pro98Thr SP substitution exon 1 VAR_053776 Q9H269:p.Ser637Ile SP substitution exon 1 VAR_053777 Q6IE81:p.Asn662Ser SP substitution exon 1 VAR_053778 Q9NQC1:p.Arg581Gly SP substitution exon 1 VAR_053779 O15265:p.Ile573Val SP substitution exon 1 VAR_053780 Q5T6C5:p.Pro495Ser SP substitution exon 1 VAR_053781 Q12797:p.Arg354Met SP substitution exon 1 VAR_053782 Q5T6X4:p.Gln71His SP substitution exon 1 VAR_053783 Q9UNZ5:p.Lys39Arg SP substitution exon 1 VAR_053784 P13010:p.Ile508Val SP substitution exon 1 VAR_053785 Q99551:p.Ala231Thr SP substitution exon 1 VAR_053787 Q49AM1:p.Ala31Val SP substitution exon 1 VAR_053788 Q49AM1:p.Val198Ile SP substitution exon 1 VAR_053789 Q9UJA5:p.Glu293Lys SP substitution exon 1 VAR_053790 Q9UJA5:p.Glu299Gly SP substitution exon 1 VAR_053792 Q9UKZ4:p.Tyr40His SP substitution exon 1 VAR_053793 Q9UKZ4:p.Met371Thr SP substitution exon 1 VAR_053794 Q9UKZ4:p.Met632Val SP substitution exon 1 VAR_053795 Q9UKZ4:p.Lys641Glu SP substitution exon 1 VAR_053796 Q9P273:p.Ser385Cys SP substitution exon 1 VAR_053797 Q6VY07:p.Phe302Leu SP substitution exon 1 VAR_053798 Q86VP3:p.Leu493Ser SP substitution exon 1 VAR_053799 Q8N5F7:p.Pro115His SP substitution exon 1 VAR_053800 Q8WVX9:p.Glu96Lys SP substitution exon 1 VAR_053801 Q96K12:p.Phe326Ser SP substitution exon 1 VAR_053802 Q96K12:p.Ile329Thr SP substitution exon 1 VAR_053803 O75781:p.Thr107Ala SP substitution exon 1 VAR_053804 A6NDB9:p.Ala440Thr SP substitution exon 1 VAR_053805 Q9NP74:p.His73Gln SP substitution exon 1 VAR_053806 Q9NP74:p.Asn229Ser SP substitution exon 1 VAR_053807 Q9NP74:p.Glu459Asp SP substitution exon 1 VAR_053808 Q709C8:p.Lys2808Arg SP substitution exon 1 VAR_053809 Q96CT7:p.Glu138Gln SP substitution exon 1 VAR_053810 Q01628:p.His3Gln SP substitution exon 1 VAR_053811 Q13835:p.Gly415Asp SP substitution exon 1 VAR_053812 O00192:p.Arg539Gln SP substitution exon 1 VAR_053813 Q9Y3B9:p.Ala32Val SP substitution exon 1 VAR_053814 Q9NST1:p.Thr216Pro SP substitution exon 1 VAR_053815 Q9NST1:p.Ser453Ile SP substitution exon 1 VAR_053816 P41247:p.Val113Ile SP substitution exon 1 VAR_053817 Q9H061:p.Arg64His SP substitution exon 1 VAR_053818 Q7Z460:p.Ile233Thr SP substitution exon 1 VAR_053819 Q96BN8:p.Met155Leu SP substitution exon 1 VAR_053820 Q96BN8:p.Asn311Ser SP substitution exon 1 VAR_053821 Q6SJ93:p.Gly218Asp SP substitution exon 1 VAR_053822 Q9BQ65:p.Arg115Lys SP substitution exon 1 VAR_053823 Q8IWE2:p.Ser40Leu SP substitution exon 1 VAR_053825 P58418:p.Lys7Ile SP substitution exon 1 VAR_053826 A0PK11:p.Leu113Val SP substitution exon 1 VAR_053827 A0PK11:p.Ala153Thr SP substitution exon 1 VAR_053828 Q8NCR9:p.Phe75Ile SP substitution exon 1 VAR_053829 Q96S06:p.Val164Ala SP substitution exon 1 VAR_053831 Q5TBA9:p.Gly1968Ser SP substitution exon 1 VAR_053833 Q9UL01:p.Pro34Leu SP substitution exon 1 VAR_053834 Q9UL01:p.Ile282Val SP substitution exon 1 VAR_053835 A0FGR9:p.Gly590Arg SP substitution exon 1 VAR_053836 Q7L590:p.Ala195Pro SP substitution exon 1 VAR_053837 Q7L590:p.Ala418Val SP substitution exon 1 VAR_053840 Q8TE73:p.Leu591Arg SP substitution exon 1 VAR_053841 Q8TE73:p.Leu591Val SP substitution exon 1 VAR_053842 Q8TE73:p.Gln620Lys SP substitution exon 1 VAR_053843 Q8TE73:p.Lys765Asn SP substitution exon 1 VAR_053844 Q8TE73:p.Arg2425His SP substitution exon 1 VAR_053845 O60784:p.Arg84His SP substitution exon 1 VAR_053846 Q96ER3:p.Ile315Val SP substitution exon 1 VAR_053847 Q96ER3:p.Ser426Gly SP substitution exon 1 VAR_053848 Q9BPX7:p.Gly265Glu SP substitution exon 1 VAR_053849 Q7L576:p.Ala532Pro SP substitution exon 1 VAR_053850 Q7L576:p.Gly820Asp SP substitution exon 1 VAR_053851 Q7L576:p.Gly820Ser SP substitution exon 1 VAR_053853 Q5TFG8:p.Pro6Ser SP substitution exon 1 VAR_053854 P13994:p.Ser22Cys SP substitution exon 1 VAR_053855 P13994:p.Cys336Ser SP substitution exon 1 VAR_053856 P22460:p.Pro228Ser SP substitution exon 1 VAR_053857 Q9H252:p.Gly165Arg SP substitution exon 1 VAR_053858 Q9H252:p.Thr925Met SP substitution exon 1 VAR_053859 O43525:p.Glu414Gly SP substitution exon 1 VAR_053860 Q9UIX4:p.Ile304Met SP substitution exon 1 VAR_053861 Q8TDN1:p.Gly8Trp SP substitution exon 1 VAR_053862 Q8TDN1:p.Arg206Trp SP substitution exon 1 VAR_053863 Q8TDN1:p.Cys255Tyr SP substitution exon 1 VAR_053864 Q8TDN1:p.Glu321Lys SP substitution exon 1 VAR_053865 Q8TDN1:p.Gly325Arg SP substitution exon 1 VAR_053866 Q8TDN1:p.Arg427His SP substitution exon 1 VAR_053867 Q96KK3:p.Gln508Arg SP substitution exon 1 VAR_053868 A8MYU2:p.Trp768Arg SP substitution exon 1 VAR_053869 A8MYU2:p.Asn916Ser SP substitution exon 1 VAR_053870 Q5JTC6:p.Phe159Leu SP substitution exon 1 VAR_053871 Q5JTC6:p.Ala278Ser SP substitution exon 1 VAR_053872 Q5U623:p.Ser527Leu SP substitution exon 1 VAR_053873 Q9BSA9:p.Gln65Pro SP substitution exon 1 VAR_053875 P16278:p.Arg109Trp SP substitution exon 1 VAR_053876 Q08AF3:p.Val754Leu SP substitution exon 1 VAR_053877 Q8IYM2:p.Ser448Pro SP substitution exon 1 VAR_053878 Q68D06:p.Pro433Leu SP substitution exon 1 VAR_053879 Q68D06:p.Asp642Val SP substitution exon 1 VAR_053880 Q8N3F9:p.Val248Ile SP substitution exon 1 VAR_053881 Q96EB1:p.Ile300Leu SP substitution exon 1 VAR_053882 Q8TE02:p.Glu14Lys SP substitution exon 1 VAR_053885 Q4LDR2:p.Met23Ile SP substitution exon 1 VAR_053886 Q9UHE5:p.Glu104Lys SP substitution exon 1 VAR_053887 Q14C87:p.Glu436Gln SP substitution exon 1 VAR_053888 Q14C87:p.Asp460His SP substitution exon 1 VAR_053889 Q9NYY8:p.Ser15Asn SP substitution exon 1 VAR_053890 Q9NYY8:p.Val445Glu SP substitution exon 1 VAR_053891 Q7L8L6:p.Arg256Cys SP substitution exon 1 VAR_053892 Q7L8L6:p.Ile288Thr SP substitution exon 1 VAR_053893 Q7L8L6:p.Ile377Val SP substitution exon 1 VAR_053894 P56182:p.Ile194Val SP substitution exon 1 VAR_053895 P56182:p.Lys326Arg SP substitution exon 1 VAR_053896 Q13796:p.Asp942Glu SP substitution exon 1 VAR_053897 Q13796:p.Ile1475Val SP substitution exon 1 VAR_053898 Q13522:p.Glu109Gly SP substitution exon 1 VAR_053899 Q13522:p.Gly147Asp SP substitution exon 1 VAR_053900 Q9BQN1:p.Glu134Lys SP substitution exon 1 VAR_053901 Q9BQN1:p.Tyr600His SP substitution exon 1 VAR_053902 Q9BQN1:p.Arg645Cys SP substitution exon 1 VAR_053903 A6ND36:p.Ile109Thr SP substitution exon 1 VAR_053904 Q9Y2Y0:p.Glu87Lys SP substitution exon 1 VAR_053905 Q9NPE2:p.Leu174Phe SP substitution exon 1 VAR_053907 Q8N9E0:p.Glu67Lys SP substitution exon 1 VAR_053908 Q9BRD0:p.Ser388Cys SP substitution exon 1 VAR_053909 Q9H094:p.Arg198Gln SP substitution exon 1 VAR_053910 Q8N945:p.Asn99Ser SP substitution exon 1 VAR_053911 Q9H6Q4:p.Val38Met SP substitution exon 1 VAR_053913 Q9UQ53:p.Gln257His SP substitution exon 1 VAR_053914 Q96MK2:p.Leu580Pro SP substitution exon 1 VAR_053915 Q9GZY8:p.Ser7Cys SP substitution exon 1 VAR_053916 Q9GZY8:p.Ser7Ile SP substitution exon 1 VAR_053917 Q9NP79:p.Ile239Met SP substitution exon 1 VAR_053918 Q9H400:p.Pro211Leu SP substitution exon 1 VAR_053919 Q6UXB0:p.Cys52Arg SP substitution exon 1 VAR_053921 Q9Y6D0:p.Arg50Ser SP substitution exon 1 VAR_053922 Q8NBJ4:p.His217Arg SP substitution exon 1 VAR_053923 Q8N565:p.Gly15Arg SP substitution exon 1 VAR_053924 Q9BT92:p.Lys127Arg SP substitution exon 1 VAR_053925 Q9BT92:p.Glu417Lys SP substitution exon 1 VAR_053926 Q14004:p.Ser340Phe SP substitution exon 1 VAR_053927 P24941:p.Val18Leu SP substitution exon 1 VAR_053928 Q92772:p.Tyr77Ser SP substitution exon 1 VAR_053929 Q92772:p.Ile132Thr SP substitution exon 1 VAR_053930 Q5MAI5:p.His118Tyr SP substitution exon 1 VAR_053931 Q9UPZ9:p.Pro98Leu SP substitution exon 1 VAR_053932 P20794:p.Asp329Glu SP substitution exon 1 VAR_053933 Q9BTX3:p.Leu102Pro SP substitution exon 1 VAR_053934 Q6UUV9:p.Thr286Ala SP substitution exon 1 VAR_053935 Q6UUV9:p.Val311Ile SP substitution exon 1 VAR_053936 Q6UUV9:p.Thr328Ala SP substitution exon 1 VAR_053937 Q9Y262:p.Asn239Ser SP substitution exon 1 VAR_053938 Q6P2H3:p.Arg48His SP substitution exon 1 VAR_053939 Q6P2H3:p.Ser213Asn SP substitution exon 1 VAR_053940 Q6P2H3:p.Gln668His SP substitution exon 1 VAR_053941 Q5SZL2:p.Gln532His SP substitution exon 1 VAR_053942 Q5SZL2:p.Met640Val SP substitution exon 1 VAR_053943 Q6ZUB1:p.Val409Met SP substitution exon 1 VAR_053944 Q6ZUB1:p.Lys586Glu SP substitution exon 1 VAR_053945 Q6ZUB1:p.Thr671Met SP substitution exon 1 VAR_053946 Q6ZUB1:p.Gly700Arg SP substitution exon 1 VAR_053947 Q6ZUB1:p.Ala736Val SP substitution exon 1 VAR_053948 Q6ZUB1:p.Pro924Leu SP substitution exon 1 VAR_053949 Q6ZUB1:p.Val1019Glu SP substitution exon 1 VAR_053950 Q56VL3:p.Arg44Gln SP substitution exon 1 VAR_053951 Q3SX64:p.Val135Ala SP substitution exon 1 VAR_053953 O75140:p.Ala641Val SP substitution exon 1 VAR_053954 O75140:p.Ser712Phe SP substitution exon 1 VAR_053955 Q15648:p.Pro753Thr SP substitution exon 1 VAR_053956 Q16769:p.Arg54Trp SP substitution exon 1 VAR_053957 Q16769:p.His360Pro SP substitution exon 1 VAR_053958 Q9Y2X0:p.Leu770Phe SP substitution exon 1 VAR_053959 Q9Y2X0:p.Glu874Lys SP substitution exon 1 VAR_053961 O75695:p.Lys144Arg SP substitution exon 1 VAR_053962 Q9NSA0:p.Val155Gly SP substitution exon 1 VAR_053963 Q9UBV2:p.Val714Ile SP substitution exon 1 VAR_053964 Q5TEA6:p.Gly477Ser SP substitution exon 1 VAR_053965 Q68CR1:p.Gln107Arg SP substitution exon 1 VAR_053966 Q68CR1:p.Ile554Val SP substitution exon 1 VAR_053967 Q68CR1:p.Trp1054Cys SP substitution exon 1 VAR_053968 Q68CR1:p.Pro1122Ser SP substitution exon 1 VAR_053969 O75448:p.Ala204Thr SP substitution exon 1 VAR_053970 Q3KQU3:p.Arg531Ser SP substitution exon 1 VAR_053971 Q96D03:p.Ser161Phe SP substitution exon 1 VAR_053972 Q96QD5:p.Ala192Thr SP substitution exon 1 VAR_053973 O60318:p.Arg1831Cys SP substitution exon 1 VAR_053974 Q8WXG1:p.Val52Ile SP substitution exon 1 VAR_053975 A6ZKI3:p.Ser60Asn SP substitution exon 1 VAR_053976 P25054:p.Pro870Ser SP substitution exon 1 VAR_053977 P25054:p.Arg1882Thr SP substitution exon 1 VAR_053979 Q5JSS6:p.Lys9Thr SP substitution exon 1 VAR_053980 Q49AJ0:p.Ile477Val SP substitution exon 1 VAR_053981 Q49AJ0:p.Asp846Asn SP substitution exon 1 VAR_053982 Q9H9A5:p.Thr348Ser SP substitution exon 1 VAR_053983 Q969S9:p.Asn64Ser SP substitution exon 1 VAR_053984 Q969S9:p.Ser300Cys SP substitution exon 1 VAR_053985 Q969S9:p.Arg774Gln SP substitution exon 1 VAR_053986 Q6UWX4:p.Val241Met SP substitution exon 1 VAR_053987 A6NGE7:p.Gln57Pro SP substitution exon 1 VAR_053988 Q96A11:p.Ala221Asp SP substitution exon 1 VAR_053989 Q96A11:p.Glu410Ala SP substitution exon 1 VAR_053990 Q13901:p.Ser127Pro SP substitution exon 1 VAR_053991 Q9P1Y5:p.Pro335Ser SP substitution exon 1 VAR_053992 Q6UXP7:p.Ile155Thr SP substitution exon 1 VAR_053993 Q5SXM8:p.Pro169His SP substitution exon 1 VAR_053994 Q5SXM8:p.Ser178Thr SP substitution exon 1 VAR_053995 A6NKW6:p.Ser5Arg SP substitution exon 1 VAR_053996 A6NKW6:p.Ala111Pro SP substitution exon 1 VAR_053997 Q86V20:p.Phe132Leu SP substitution exon 1 VAR_053998 Q86V20:p.Ser550Cys SP substitution exon 1 VAR_053999 Q86V20:p.Arg747His SP substitution exon 1 VAR_054000 P12821:p.Arg260Cys SP substitution exon 1 VAR_054001 P12821:p.Arg260Leu SP substitution exon 1 VAR_054002 Q9BYT8:p.Ser323Gly SP substitution exon 1 VAR_054003 Q9BYT8:p.Lys372Arg SP substitution exon 1 VAR_054004 Q9BYT8:p.Ser417Gly SP substitution exon 1 VAR_054005 P03956:p.Arg262Ser SP substitution exon 1 VAR_054006 Q99542:p.Pro245Ser SP substitution exon 1 VAR_054008 Q86V87:p.Thr315Ala SP substitution exon 1 VAR_054009 Q86V87:p.Gly667Arg SP substitution exon 1 VAR_054010 O43312:p.Asn305Ile SP substitution exon 1 VAR_054011 O43312:p.Thr725Ala SP substitution exon 1 VAR_054012 Q13421:p.Gly497Glu SP substitution exon 1 VAR_054013 Q96EY4:p.Arg12Gln SP substitution exon 1 VAR_054014 O95456:p.Ile166Val SP substitution exon 1 VAR_054016 Q5VZ66:p.Met493Val SP substitution exon 1 VAR_054017 P42858:p.Glu1382Ala SP substitution exon 1 VAR_054018 Q8WWK9:p.Met236Lys SP substitution exon 1 VAR_054019 P15291:p.Arg21Trp SP substitution exon 1 VAR_054020 P15291:p.His257Arg SP substitution exon 1 VAR_054021 O60909:p.Gly338Arg SP substitution exon 1 VAR_054022 O43286:p.Asp368Asn SP substitution exon 1 VAR_054023 Q9UBX8:p.Ile379Val SP substitution exon 1 VAR_054024 Q96BK5:p.Gln206His SP substitution exon 1 VAR_054025 Q96BK5:p.Arg215Ile SP substitution exon 1 VAR_054026 Q96BK5:p.Thr220Ala SP substitution exon 1 VAR_054027 Q96BK5:p.Ser254Cys SP substitution exon 1 VAR_054028 Q96BK5:p.Glu315Ala SP substitution exon 1 VAR_054029 Q6EEV4:p.Ala127Pro SP substitution exon 1 VAR_054030 Q6NTE8:p.Gln42Arg SP substitution exon 1 VAR_054032 O14579:p.Ser13Cys SP substitution exon 1 VAR_054033 O14579:p.Thr117Ile SP substitution exon 1 VAR_054034 Q12882:p.Met166Val SP substitution exon 1 VAR_054035 Q5U3C3:p.Ser204Asn SP substitution exon 1 VAR_054036 Q8IVD9:p.Thr3Pro SP substitution exon 1 VAR_054037 Q9UJW0:p.Pro95Thr SP substitution exon 1 VAR_054038 Q9BYC5:p.Lys101Gln SP substitution exon 1 VAR_054039 Q9Y678:p.Met681Thr SP substitution exon 1 VAR_054040 P04844:p.Leu597Phe SP substitution exon 1 VAR_054041 Q86VP6:p.Val803Ala SP substitution exon 1 VAR_054042 Q96BY9:p.Pro78Thr SP substitution exon 1 VAR_054043 P52655:p.Ala109Pro SP substitution exon 1 VAR_054044 Q9UJX5:p.Arg465Gln SP substitution exon 1 VAR_054045 Q9UJX5:p.Glu800Gly SP substitution exon 1 VAR_054047 Q4VXU2:p.Ser212Ala SP substitution exon 1 VAR_054048 Q13310:p.Tyr382Phe SP substitution exon 1 VAR_054049 Q96DU9:p.Asn314Ser SP substitution exon 1 VAR_054050 O95568:p.Phe309Leu SP substitution exon 1 VAR_054051 O95568:p.Arg318His SP substitution exon 1 VAR_054052 Q587J8:p.Glu97Gln SP substitution exon 1 VAR_054053 Q587J8:p.Ala201Gly SP substitution exon 1 VAR_054056 A6NJV1:p.Gln177Leu SP substitution exon 1 VAR_054057 Q9UQC9:p.Val80Ile SP substitution exon 1 VAR_054058 Q9UQC9:p.Gly534Asp SP substitution exon 1 VAR_054059 Q9BX26:p.Thr353Lys SP substitution exon 1 VAR_054060 Q9BX26:p.Thr751Ile SP substitution exon 1 VAR_054061 Q9BX26:p.Val1155Ala SP substitution exon 1 VAR_054063 P55808:p.Asp60Asn SP substitution exon 1 VAR_054064 Q8NA61:p.Lys329Glu SP substitution exon 1 VAR_054065 Q5T7M4:p.Gly14Arg SP substitution exon 1 VAR_054066 P58511:p.Lys51Arg SP substitution exon 1 VAR_054067 Q9Y4I5:p.Cys223Arg SP substitution exon 1 VAR_054068 Q6QNY1:p.Ser13Arg SP substitution exon 1 VAR_054069 Q9UBB9:p.Asn177Ser SP substitution exon 1 VAR_054070 Q6YHU6:p.Glu63Gly SP substitution exon 1 VAR_054071 Q6YHU6:p.Val699Ile SP substitution exon 1 VAR_054078 Q5VTQ0:p.Thr128Pro SP substitution exon 1 VAR_054079 Q8IUF8:p.Ala17Pro SP substitution exon 1 VAR_054080 Q5VST6:p.Arg154Lys SP substitution exon 1 VAR_054081 Q6UWF9:p.Val96Ile SP substitution exon 1 VAR_054082 Q14511:p.Asp178Asn SP substitution exon 1 VAR_054083 Q14511:p.Pro304Leu SP substitution exon 1 VAR_054084 Q9NQ75:p.Arg491Lys SP substitution exon 1 VAR_054085 Q9NQ75:p.Thr629Asn SP substitution exon 1 VAR_054086 Q9NQ75:p.Pro660Ser SP substitution exon 1 VAR_054087 Q9NQ75:p.Gln780His SP substitution exon 1 VAR_054088 O43281:p.Thr7Ala SP substitution exon 1 VAR_054089 O43281:p.Val100Met SP substitution exon 1 VAR_054090 A6PVY3:p.Gln143Arg SP substitution exon 1 VAR_054091 Q6ZUX3:p.Ala55Thr SP substitution exon 1 VAR_054092 Q6ZUX3:p.Gln265Arg SP substitution exon 1 VAR_054093 Q6ZUX3:p.Gln362Arg SP substitution exon 1 VAR_054094 Q6ZUX3:p.Ile441Val SP substitution exon 1 VAR_054095 Q6ZUX3:p.Val535Ala SP substitution exon 1 VAR_054098 Q9NQT5:p.Tyr225His SP substitution exon 1 VAR_054099 Q14CX7:p.Leu426Phe SP substitution exon 1 VAR_054101 Q8NB25:p.Gln174His SP substitution exon 1 VAR_054102 Q8NB25:p.Val177Gly SP substitution exon 1 VAR_054103 Q8NB25:p.Asp599Asn SP substitution exon 1 VAR_054104 Q9H0G5:p.Lys86Thr SP substitution exon 1 VAR_054105 O95376:p.Glu24Lys SP substitution exon 1 VAR_054106 O95376:p.Glu29Asp SP substitution exon 1 VAR_054107 O60260:p.Met192Leu SP substitution exon 1 VAR_054108 Q567U6:p.Arg179Cys SP substitution exon 1 VAR_054109 Q567U6:p.Arg213Cys SP substitution exon 1 VAR_054110 Q567U6:p.Pro228Leu SP substitution exon 1 VAR_054111 Q567U6:p.Tyr465His SP substitution exon 1 VAR_054112 P30793:p.Thr106Ile SP substitution exon 1 VAR_054113 Q9H2C0:p.Ala51Pro SP substitution exon 1 VAR_054114 Q9H2C0:p.Tyr89Cys SP substitution exon 1 VAR_054115 Q9H2C0:p.Val195Phe SP substitution exon 1 VAR_054116 Q9H2C0:p.Pro315Leu SP substitution exon 1 VAR_054117 Q9H2C0:p.Gly474Arg SP substitution exon 1 VAR_054118 Q9H2C0:p.Arg545His SP substitution exon 1 VAR_054119 Q5TEU4:p.Leu229Pro SP substitution exon 1 VAR_054120 Q0D2K0:p.Gly230Arg SP substitution exon 1 VAR_054121 Q8NGD4:p.Arg89His SP substitution exon 1 VAR_054122 Q8NGD4:p.Arg138Gln SP substitution exon 1 VAR_054123 Q8NGD4:p.Arg304His SP substitution exon 1 VAR_054124 Q9Y4A9:p.Ala65Val SP substitution exon 1 VAR_054125 Q9Y4A9:p.His175Gln SP substitution exon 1 VAR_054126 Q96RD2:p.Phe105Tyr SP substitution exon 1 VAR_054128 Q86SQ4:p.Ser123Gly SP substitution exon 1 VAR_054129 Q86SQ4:p.Gln1127Arg SP substitution exon 1 VAR_054130 Q8NDX2:p.Ala211Val SP substitution exon 1 VAR_054131 Q8NDX2:p.Ala220Thr SP substitution exon 1 VAR_054132 Q8NDX2:p.Gly246Glu SP substitution exon 1 VAR_054133 Q7Z570:p.Asp479Gly SP substitution exon 1 VAR_054134 Q7Z570:p.Lys600Arg SP substitution exon 1 VAR_054135 Q7Z570:p.Gly1152Arg SP substitution exon 1 VAR_054136 Q9H0R5:p.Arg221Gln SP substitution exon 1 VAR_054137 Q9H0R5:p.Arg225Trp SP substitution exon 1 VAR_054138 Q9H0R5:p.Thr347Ser SP substitution exon 1 VAR_054144 O14522:p.Pro1213Leu SP substitution exon 1 VAR_054147 P32249:p.Ala338Val SP substitution exon 1 VAR_054148 Q9BYE9:p.Pro1004Leu SP substitution exon 1 VAR_054149 P36888:p.Val194Met SP substitution exon 1 VAR_054150 Q86YC2:p.Pro864Ser SP substitution exon 1 VAR_054151 Q15643:p.Thr1846Ile SP substitution exon 1 VAR_054152 P11511:p.Arg375Leu SP substitution exon 1 VAR_054153 Q03468:p.Arg134Trp SP substitution exon 1 VAR_054154 O14964:p.Thr7Ser SP substitution exon 1 VAR_054157 Q07820:p.Met231Leu SP substitution exon 1 VAR_054158 P42898:p.Glu470Ala SP substitution exon 1 VAR_054159 P12882:p.Gly640Ser SP substitution exon 1 VAR_054160 P36897:p.Ile139Val SP substitution exon 1 VAR_054161 Q13077:p.Met139Thr SP substitution exon 1 VAR_054163 Q9H5F2:p.Val40Ala SP substitution exon 1 VAR_054164 P15289:p.Ala18Asp SP substitution exon 1 VAR_054165 P15289:p.Asp29Asn SP substitution exon 1 VAR_054166 P15289:p.Asp30His SP substitution exon 1 VAR_054167 P15289:p.Gly32Ser SP substitution exon 1 VAR_054168 P15289:p.Leu68Pro SP substitution exon 1 VAR_054169 P15289:p.Arg84Trp SP substitution exon 1 VAR_054170 P15289:p.Pro94Ala SP substitution exon 1 VAR_054171 P15289:p.Gly99Val SP substitution exon 1 VAR_054172 P15289:p.Pro136Ser SP substitution exon 1 VAR_054174 P15289:p.Arg143Gly SP substitution exon 1 VAR_054175 P15289:p.Pro148Leu SP substitution exon 1 VAR_054176 P15289:p.Gln153His SP substitution exon 1 VAR_054177 P15289:p.Pro155Leu SP substitution exon 1 VAR_054178 P15289:p.Cys156Arg SP substitution exon 1 VAR_054179 P15289:p.Leu181Gln SP substitution exon 1 VAR_054180 P15289:p.Gln190His SP substitution exon 1 VAR_054181 P15289:p.Pro191Thr SP substitution exon 1 VAR_054182 P15289:p.Ala212Pro SP substitution exon 1 VAR_054183 P15289:p.Arg217His SP substitution exon 1 VAR_054184 P15289:p.Phe219Val SP substitution exon 1 VAR_054185 P15289:p.His227Tyr SP substitution exon 1 VAR_054186 P15289:p.Phe247Ser SP substitution exon 1 VAR_054187 P15289:p.Glu253Lys SP substitution exon 1 VAR_054188 P15289:p.Asp255His SP substitution exon 1 VAR_054189 P15289:p.Asp281Tyr SP substitution exon 1 VAR_054190 P15289:p.Asn282Ser SP substitution exon 1 VAR_054191 P15289:p.Thr286Pro SP substitution exon 1 VAR_054192 P15289:p.Arg288His SP substitution exon 1 VAR_054193 P15289:p.Gly293Asp SP substitution exon 1 VAR_054194 P15289:p.Gly293Ser SP substitution exon 1 VAR_054195 P15289:p.Cys294Tyr SP substitution exon 1 VAR_054196 P15289:p.Leu298Ser SP substitution exon 1 VAR_054197 P15289:p.Lys302Asn SP substitution exon 1 VAR_054198 P15289:p.Tyr306His SP substitution exon 1 VAR_054199 P15289:p.Gly308Asp SP substitution exon 1 VAR_054200 P15289:p.Gly308Val SP substitution exon 1 VAR_054201 P15289:p.Glu312Asp SP substitution exon 1 VAR_054202 P15289:p.Gly325Ser SP substitution exon 1 VAR_054203 P15289:p.Thr327Ile SP substitution exon 1 VAR_054204 P15289:p.Tyr376Asn SP substitution exon 1 VAR_054205 P15289:p.Asp381Glu SP substitution exon 1 VAR_054206 P15289:p.Thr408Ile SP substitution exon 1 VAR_054207 P15289:p.Thr409Ile SP substitution exon 1 VAR_054212 O15091:p.Asn437Ser SP substitution exon 1 VAR_054213 P28908:p.Cys273Phe SP substitution exon 1 VAR_054215 O94989:p.Gly155Val SP substitution exon 1 VAR_054216 O94989:p.Leu277Pro SP substitution exon 1 VAR_054219 Q13084:p.His27Tyr SP substitution exon 1 VAR_054220 Q9H0D2:p.Pro486Ser SP substitution exon 1 VAR_054221 Q9H0D2:p.Lys791Glu SP substitution exon 1 VAR_054222 Q9H0D2:p.Thr795Ser SP substitution exon 1 VAR_054223 Q8NEP9:p.Asn107Asp SP substitution exon 1 VAR_054224 Q8NEP9:p.Pro137Leu SP substitution exon 1 VAR_054225 Q8NEP9:p.His194Asn SP substitution exon 1 VAR_054226 Q96SR6:p.Glu168Gly SP substitution exon 1 VAR_054227 Q16678:p.Ser28Trp SP substitution exon 1 VAR_054228 Q16678:p.Pro52Leu SP substitution exon 1 VAR_054229 Q16678:p.Leu77Pro SP substitution exon 1 VAR_054230 Q16678:p.Ala115Pro SP substitution exon 1 VAR_054231 Q16678:p.Met132Arg SP substitution exon 1 VAR_054232 Q16678:p.Gln144His SP substitution exon 1 VAR_054233 Q16678:p.Gln144Pro SP substitution exon 1 VAR_054234 Q16678:p.Gln144Arg SP substitution exon 1 VAR_054235 Q16678:p.Arg145Trp SP substitution exon 1 VAR_054236 Q16678:p.Gly184Ser SP substitution exon 1 VAR_054237 Q16678:p.Ala189Pro SP substitution exon 1 VAR_054238 Q16678:p.Asp192Val SP substitution exon 1 VAR_054239 Q16678:p.Pro193Leu SP substitution exon 1 VAR_054240 Q16678:p.Val198Ile SP substitution exon 1 VAR_054241 Q16678:p.Asn203Ser SP substitution exon 1 VAR_054242 Q16678:p.Ser215Ile SP substitution exon 1 VAR_054243 Q16678:p.Glu229Lys SP substitution exon 1 VAR_054244 Q16678:p.Gly232Arg SP substitution exon 1 VAR_054245 Q16678:p.Ser239Arg SP substitution exon 1 VAR_054247 Q16678:p.Val320Leu SP substitution exon 1 VAR_054248 Q16678:p.Ala330Phe SP substitution exon 1 VAR_054249 Q16678:p.Ala330Ser SP substitution exon 1 VAR_054251 Q16678:p.Leu345Phe SP substitution exon 1 VAR_054253 Q16678:p.Val364Met SP substitution exon 1 VAR_054254 Q16678:p.Ala388Thr SP substitution exon 1 VAR_054255 Q16678:p.Arg390Cys SP substitution exon 1 VAR_054256 Q16678:p.Arg390Ser SP substitution exon 1 VAR_054257 Q16678:p.Ile399Ser SP substitution exon 1 VAR_054258 Q16678:p.Val409Phe SP substitution exon 1 VAR_054259 Q16678:p.Val422Gly SP substitution exon 1 VAR_054260 Q16678:p.Asn423Tyr SP substitution exon 1 VAR_054261 Q16678:p.Arg444Gln SP substitution exon 1 VAR_054262 Q16678:p.Phe445Cys SP substitution exon 1 VAR_054263 Q16678:p.Gly466Asp SP substitution exon 1 VAR_054264 Q16678:p.Glu499Gly SP substitution exon 1 VAR_054265 Q16678:p.Ser515Leu SP substitution exon 1 VAR_054266 Q16678:p.Val518Ala SP substitution exon 1 VAR_054267 Q16678:p.Arg523Thr SP substitution exon 1 VAR_054268 Q16678:p.Asp530Gly SP substitution exon 1 VAR_054269 Q99972:p.Pro16Leu SP substitution exon 1 VAR_054270 Q99972:p.Ala17Ser SP substitution exon 1 VAR_054271 Q99972:p.Cys25Arg SP substitution exon 1 VAR_054272 Q99972:p.Gln48His SP substitution exon 1 VAR_054273 Q99972:p.Asn57Asp SP substitution exon 1 VAR_054274 Q99972:p.Asn57Ser SP substitution exon 1 VAR_054275 Q99972:p.Asp77Glu SP substitution exon 1 VAR_054276 Q99972:p.Leu95Pro SP substitution exon 1 VAR_054277 Q99972:p.Arg126Trp SP substitution exon 1 VAR_054278 Q99972:p.Arg158Gln SP substitution exon 1 VAR_054279 Q99972:p.Leu215Pro SP substitution exon 1 VAR_054280 Q99972:p.Gly244Val SP substitution exon 1 VAR_054281 Q99972:p.Cys245Tyr SP substitution exon 1 VAR_054282 Q99972:p.Val251Ala SP substitution exon 1 VAR_054283 Q99972:p.Gly252Arg SP substitution exon 1 VAR_054284 Q99972:p.Glu261Lys SP substitution exon 1 VAR_054285 Q99972:p.Arg272Gly SP substitution exon 1 VAR_054286 Q99972:p.Pro274Arg SP substitution exon 1 VAR_054287 Q99972:p.Glu300Lys SP substitution exon 1 VAR_054288 Q99972:p.Glu323Lys SP substitution exon 1 VAR_054289 Q99972:p.Gln337Glu SP substitution exon 1 VAR_054290 Q99972:p.Ser341Pro SP substitution exon 1 VAR_054291 Q99972:p.Arg342Lys SP substitution exon 1 VAR_054292 Q99972:p.Ile345Met SP substitution exon 1 VAR_054293 Q99972:p.Ile360Asn SP substitution exon 1 VAR_054294 Q99972:p.Ala363Thr SP substitution exon 1 VAR_054295 Q99972:p.Phe369Leu SP substitution exon 1 VAR_054296 Q99972:p.Thr377Lys SP substitution exon 1 VAR_054297 Q99972:p.Asp380His SP substitution exon 1 VAR_054298 Q99972:p.Asp380Asn SP substitution exon 1 VAR_054299 Q99972:p.Ser393Asn SP substitution exon 1 VAR_054300 Q99972:p.Gly399Val SP substitution exon 1 VAR_054301 Q99972:p.Glu414Lys SP substitution exon 1 VAR_054302 Q99972:p.Ala427Thr SP substitution exon 1 VAR_054303 Q99972:p.Gly434Ser SP substitution exon 1 VAR_054304 Q99972:p.Thr438Ile SP substitution exon 1 VAR_054305 Q99972:p.Thr448Pro SP substitution exon 1 VAR_054306 Q99972:p.Asn450Asp SP substitution exon 1 VAR_054307 Q99972:p.Arg470His SP substitution exon 1 VAR_054308 Q99972:p.Tyr471Cys SP substitution exon 1 VAR_054309 Q99972:p.Ile499Ser SP substitution exon 1 VAR_054310 P34972:p.Gln63Arg SP substitution exon 1 VAR_054311 P15085:p.His276Arg SP substitution exon 1 VAR_054314 Q6N043:p.Val568Ile SP substitution exon 1 VAR_054315 Q6N043:p.Ala778Val SP substitution exon 1 VAR_054316 Q6N043:p.Lys781Ile SP substitution exon 1 VAR_054317 Q6N043:p.Gly785Ala SP substitution exon 1 VAR_054318 Q7Z2G1:p.Arg123His SP substitution exon 1 VAR_054319 Q7Z2W4:p.Gln701Glu SP substitution exon 1 VAR_054320 Q12788:p.Gln293Arg SP substitution exon 1 VAR_054321 Q12788:p.Glu294Gln SP substitution exon 1 VAR_054322 Q92734:p.Ala211Val SP substitution exon 1 VAR_054323 Q92734:p.Thr364Pro SP substitution exon 1 VAR_054324 Q07617:p.Glu331Lys SP substitution exon 1 VAR_054325 Q07617:p.Met777Thr SP substitution exon 1 VAR_054326 Q07617:p.His827Tyr SP substitution exon 1 VAR_054327 Q07890:p.Ser483Asn SP substitution exon 1 VAR_054328 Q07890:p.His508Tyr SP substitution exon 1 VAR_054329 Q08426:p.Val40Gly SP substitution exon 1 VAR_054330 Q08426:p.Ile41Arg SP substitution exon 1 VAR_054331 Q08426:p.Ala325Gly SP substitution exon 1 VAR_054332 Q08426:p.Lys598Thr SP substitution exon 1 VAR_054333 Q12955:p.Ile4257Val SP substitution exon 1 VAR_054334 Q12959:p.Lys140Arg SP substitution exon 1 VAR_054335 Q12959:p.Arg278Gln SP substitution exon 1 VAR_054337 Q13033:p.Asn471Ser SP substitution exon 1 VAR_054339 Q13444:p.Pro502Gln SP substitution exon 1 VAR_054340 Q13488:p.Arg56Trp SP substitution exon 1 VAR_054341 Q13488:p.Pro161Leu SP substitution exon 1 VAR_054342 Q8NG31:p.Met598Thr SP substitution exon 1 VAR_054343 Q8NGV6:p.Ala46Glu SP substitution exon 1 VAR_054344 Q8NGV6:p.Ala145Pro SP substitution exon 1 VAR_054345 Q8NGV6:p.Ser179Leu SP substitution exon 1 VAR_054346 Q8NGV6:p.Cys195Arg SP substitution exon 1 VAR_054347 Q8NGV6:p.Thr272Ala SP substitution exon 1 VAR_054348 Q8NGV6:p.Asp285Asn SP substitution exon 1 VAR_054349 Q8NGG2:p.Ser21Tyr SP substitution exon 1 VAR_054350 Q8NGG2:p.Thr64Ile SP substitution exon 1 VAR_054351 Q8NGG2:p.Val87Leu SP substitution exon 1 VAR_054352 Q8NGG2:p.Thr125Met SP substitution exon 1 VAR_054353 Q8NGG2:p.Leu238Val SP substitution exon 1 VAR_054354 Q8NGG2:p.His309Asp SP substitution exon 1 VAR_054355 Q8NGX6:p.Ala191Thr SP substitution exon 1 VAR_054356 Q8NGX6:p.Glu216Gly SP substitution exon 1 VAR_054357 Q8NGX6:p.Leu239Phe SP substitution exon 1 VAR_054358 Q8NGN2:p.Gly63Ser SP substitution exon 1 VAR_054359 Q8NGN2:p.Lys93Arg SP substitution exon 1 VAR_054360 Q8NGN2:p.Ala112Val SP substitution exon 1 VAR_054361 Q8NGJ2:p.Val47Ile SP substitution exon 1 VAR_054362 Q8NGJ2:p.Ala89Thr SP substitution exon 1 VAR_054363 Q8NGJ2:p.His130Arg SP substitution exon 1 VAR_054364 Q8NGJ2:p.Gly235Cys SP substitution exon 1 VAR_054365 Q8NGJ2:p.Cys242Arg SP substitution exon 1 VAR_054366 Q8NGJ2:p.Met283Thr SP substitution exon 1 VAR_054369 P54829:p.Pro170Ala SP substitution exon 1 VAR_054371 Q3SXY8:p.Arg79Gln SP substitution exon 1 VAR_054372 Q3SXY8:p.Arg200Cys SP substitution exon 1 VAR_054373 Q9NPC2:p.Gly236Arg SP substitution exon 1 VAR_054374 P21912:p.Ala3Gly SP substitution exon 1 VAR_054375 P21912:p.Lys40Glu SP substitution exon 1 VAR_054376 P21912:p.Ala43Pro SP substitution exon 1 VAR_054377 P21912:p.Arg46Gln SP substitution exon 1 VAR_054378 P21912:p.Gly53Arg SP substitution exon 1 VAR_054379 P21912:p.Leu65His SP substitution exon 1 VAR_054380 P21912:p.Leu65Pro SP substitution exon 1 VAR_054381 P21912:p.Ile127Asn SP substitution exon 1 VAR_054382 P21912:p.Ser163Pro SP substitution exon 1 VAR_054383 P21912:p.Arg230Cys SP substitution exon 1 VAR_054384 O14521:p.His145Asn SP substitution exon 1 VAR_054385 O14521:p.Gly148Val SP substitution exon 1 VAR_054386 Q92574:p.His68Arg SP substitution exon 1 VAR_054387 Q92574:p.Leu72Pro SP substitution exon 1 VAR_054388 Q92574:p.Phe158Cys SP substitution exon 1 VAR_054389 Q92574:p.His206Asp SP substitution exon 1 VAR_054390 Q92574:p.Phe216Leu SP substitution exon 1 VAR_054391 Q92574:p.Arg500Gln SP substitution exon 1 VAR_054392 Q86TI0:p.Arg125Trp SP substitution exon 1 VAR_054393 P25189:p.His39Pro SP substitution exon 1 VAR_054396 P25189:p.Glu56Lys SP substitution exon 1 VAR_054397 P25189:p.Asp224Tyr SP substitution exon 1 VAR_054398 P25189:p.Arg227Ser SP substitution exon 1 VAR_054400 Q9NZB2:p.Tyr327His SP substitution exon 1 VAR_054401 Q16719:p.Thr198Ala SP substitution exon 1 VAR_054409 Q9BV19:p.Thr178Met SP substitution exon 1 VAR_054410 Q3ZCV2:p.Tyr205His SP substitution exon 1 VAR_054412 Q5JRC9:p.Phe50Leu SP substitution exon 1 VAR_054413 Q5JRC9:p.Val232Glu SP substitution exon 1 VAR_054414 Q5JRC9:p.Ala377Ser SP substitution exon 1 VAR_054416 Q5JRC9:p.Gly531Arg SP substitution exon 1 VAR_054417 Q9NQV7:p.Tyr335His SP substitution exon 1 VAR_054419 A6NE01:p.Lys187Gln SP substitution exon 1 VAR_054420 A6NE01:p.Arg1204Gly SP substitution exon 1 VAR_054421 A6NE01:p.Leu1233Pro SP substitution exon 1 VAR_054422 A6NE01:p.His2166Tyr SP substitution exon 1 VAR_054423 A6NE01:p.Met2193Ile SP substitution exon 1 VAR_054424 A6NE01:p.His2228Gln SP substitution exon 1 VAR_054425 A6NE01:p.Gln2316Glu SP substitution exon 1 VAR_054426 P24046:p.Met26Val SP substitution exon 1 VAR_054427 Q8N9V6:p.Met243Thr SP substitution exon 1 VAR_054428 P46199:p.Thr59Asn SP substitution exon 1 VAR_054429 Q8N1N0:p.Arg101Gln SP substitution exon 1 VAR_054430 Q8N1N0:p.Arg351His SP substitution exon 1 VAR_054431 Q8N1N0:p.Lys564Arg SP substitution exon 1 VAR_054432 O76009:p.Ala270Val SP substitution exon 1 VAR_054433 Q3B7J2:p.Gly231Val SP substitution exon 1 VAR_054434 Q93033:p.Gly157Ser SP substitution exon 1 VAR_054435 Q93033:p.Thr631Ser SP substitution exon 1 VAR_054436 Q93033:p.Arg933Gln SP substitution exon 1 VAR_054437 Q93033:p.Leu955Phe SP substitution exon 1 VAR_054438 Q93033:p.Arg992Trp SP substitution exon 1 VAR_054439 Q9H324:p.Ala25Thr SP substitution exon 1 VAR_054440 Q9H324:p.Arg119Gln SP substitution exon 1 VAR_054441 Q9H324:p.Thr134Ser SP substitution exon 1 VAR_054442 O75718:p.Leu67Pro SP substitution exon 1 VAR_054443 Q9NZW4:p.Pro17Ser SP substitution exon 1 VAR_054444 Q9UNE0:p.Cys47Tyr SP substitution exon 1 VAR_054445 Q9UNE0:p.Asp110Ala SP substitution exon 1 VAR_054446 Q9UNE0:p.Cys148Arg SP substitution exon 1 VAR_054447 Q9UNE0:p.Arg375His SP substitution exon 1 VAR_054448 Q9UNE0:p.Leu377Phe SP substitution exon 1 VAR_054449 Q9UNE0:p.Gly382Ser SP substitution exon 1 VAR_054450 Q9UNE0:p.Thr403Met SP substitution exon 1 VAR_054451 Q9UNE0:p.Thr413Pro SP substitution exon 1 VAR_054452 Q9UNE0:p.Ile418Thr SP substitution exon 1 VAR_054453 Q9UNE0:p.Trp434Cys SP substitution exon 1 VAR_054454 Q92838:p.Arg153Cys SP substitution exon 1 VAR_054455 Q92838:p.Arg156Ser SP substitution exon 1 VAR_054456 Q92838:p.Lys158Asn SP substitution exon 1 VAR_054460 Q92838:p.Gly189Glu SP substitution exon 1 VAR_054462 Q92838:p.Gly198Ala SP substitution exon 1 VAR_054463 Q92838:p.Gly207Arg SP substitution exon 1 VAR_054464 Q92838:p.Gly218Asp SP substitution exon 1 VAR_054466 Q92838:p.Asp298Tyr SP substitution exon 1 VAR_054467 Q92838:p.Gln306His SP substitution exon 1 VAR_054468 Q92838:p.Val307Gly SP substitution exon 1 VAR_054469 Q92838:p.Tyr320Cys SP substitution exon 1 VAR_054470 Q92838:p.Tyr343Cys SP substitution exon 1 VAR_054471 Q92838:p.Gln358Glu SP substitution exon 1 VAR_054472 Q92838:p.Ile360Asn SP substitution exon 1 VAR_054473 Q92838:p.Asn372Asp SP substitution exon 1 VAR_054474 Q92838:p.Met373Ile SP substitution exon 1 VAR_054475 Q92838:p.Ser374Arg SP substitution exon 1 VAR_054476 Q92838:p.Thr378Pro SP substitution exon 1 VAR_054477 O00222:p.Phe362Tyr SP substitution exon 1 VAR_054478 O00222:p.Gly368Asp SP substitution exon 1 VAR_054479 O00222:p.Leu430Phe SP substitution exon 1 VAR_054480 P51878:p.Leu75Arg SP substitution exon 1 VAR_054481 P51878:p.Arg298His SP substitution exon 1 VAR_054482 P51878:p.Glu382Gln SP substitution exon 1 VAR_054484 Q9BZ23:p.Arg94Pro SP substitution exon 1 VAR_054485 Q14690:p.Ser397Asn SP substitution exon 1 VAR_054486 Q14690:p.Ala780Ser SP substitution exon 1 VAR_054487 Q14690:p.Pro1453Ser SP substitution exon 1 VAR_054488 P11047:p.Glu731Lys SP substitution exon 1 VAR_054489 Q9Y6H3:p.Ser48Cys SP substitution exon 1 VAR_054490 Q9Y6R7:p.Val732Ala SP substitution exon 1 VAR_054491 Q9Y6R7:p.Asn770Ser SP substitution exon 1 VAR_054492 Q9Y6R7:p.Gly929Arg SP substitution exon 1 VAR_054493 Q9Y6R7:p.Val971Met SP substitution exon 1 VAR_054494 Q9Y6R7:p.Gly1019Arg SP substitution exon 1 VAR_054495 Q9Y6R7:p.Pro1436Leu SP substitution exon 1 VAR_054496 Q9Y6R7:p.His1445Asp SP substitution exon 1 VAR_054497 Q9Y6R7:p.Thr1524Asn SP substitution exon 1 VAR_054498 Q9Y6R7:p.Ala5017Val SP substitution exon 1 VAR_054499 Q7RTS9:p.Asn469Tyr SP substitution exon 1 VAR_054500 Q96LZ2:p.Phe50Ser SP substitution exon 1 VAR_054501 P54296:p.Asn869Ser SP substitution exon 1 VAR_054502 P09327:p.Lys254Arg SP substitution exon 1 VAR_054503 P78364:p.Thr693Ala SP substitution exon 1 VAR_054504 Q9H211:p.Cys234Arg SP substitution exon 1 VAR_054505 Q9H211:p.Thr262Ala SP substitution exon 1 VAR_054506 Q9NYK6:p.Asn115Lys SP substitution exon 1 VAR_054507 Q9NYK6:p.Gln195His SP substitution exon 1 VAR_054508 Q9NYK6:p.Tyr217His SP substitution exon 1 VAR_054509 Q8WWZ3:p.Ser103Phe SP substitution exon 1 VAR_054510 Q8WWZ3:p.Leu122Arg SP substitution exon 1 VAR_054511 P43246:p.Ala2Thr SP substitution exon 1 VAR_054512 P43246:p.Gly162Ala SP substitution exon 1 VAR_054513 P43246:p.Glu198Gly SP substitution exon 1 VAR_054514 P43246:p.Asn331Asp SP substitution exon 1 VAR_054515 P43246:p.Val470Glu SP substitution exon 1 VAR_054516 P43246:p.His610Asn SP substitution exon 1 VAR_054517 P43246:p.Arg638Gly SP substitution exon 1 VAR_054518 P43246:p.Gln645Glu SP substitution exon 1 VAR_054519 P43246:p.Pro696Leu SP substitution exon 1 VAR_054522 P40692:p.Asp41His SP substitution exon 1 VAR_054523 P40692:p.Gly98Ser SP substitution exon 1 VAR_054524 P40692:p.Gly101Ser SP substitution exon 1 VAR_054525 P40692:p.Thr116Lys SP substitution exon 1 VAR_054526 P40692:p.Tyr126Asn SP substitution exon 1 VAR_054527 P40692:p.Asn215Ser SP substitution exon 1 VAR_054528 P40692:p.Ile216Ser SP substitution exon 1 VAR_054529 P40692:p.Leu260Phe SP substitution exon 1 VAR_054530 P40692:p.Arg265Cys SP substitution exon 1 VAR_054531 P40692:p.Glu320Asp SP substitution exon 1 VAR_054532 P40692:p.Arg474Trp SP substitution exon 1 VAR_054533 P40692:p.Ala539Asp SP substitution exon 1 VAR_054534 P40692:p.Leu585Arg SP substitution exon 1 VAR_054535 P40692:p.Ala619Pro SP substitution exon 1 VAR_054536 P40692:p.Pro640Leu SP substitution exon 1 VAR_054537 P40692:p.Phe656Ser SP substitution exon 1 VAR_054538 P40692:p.Trp666Arg SP substitution exon 1 VAR_054539 P20062:p.Ile23Val SP substitution exon 1 VAR_054540 P20062:p.Phe89Leu SP substitution exon 1 VAR_054541 P20062:p.Arg215Trp SP substitution exon 1 VAR_054542 P20062:p.Arg227Gln SP substitution exon 1 VAR_054543 P20062:p.Ser348Phe SP substitution exon 1 VAR_054544 P20062:p.Arg399Gln SP substitution exon 1 VAR_054545 Q12912:p.Thr94Ala SP substitution exon 1 VAR_054546 Q12912:p.Leu197Val SP substitution exon 1 VAR_054547 Q12912:p.Leu241Trp SP substitution exon 1 VAR_054548 Q12912:p.Cys253Ser SP substitution exon 1 VAR_054549 O60566:p.Pro378Ser SP substitution exon 1 VAR_054550 P51788:p.Thr668Ser SP substitution exon 1 VAR_054551 P51788:p.Glu718Asp SP substitution exon 1 VAR_054552 Q5TDP6:p.Asn26Tyr SP substitution exon 1 VAR_054553 Q5TDP6:p.Gly46Glu SP substitution exon 1 VAR_054554 Q5TDP6:p.Asn137His SP substitution exon 1 VAR_054555 P58418:p.Cys40Gly SP substitution exon 1 VAR_054556 P58418:p.Ser105Pro SP substitution exon 1 VAR_054557 O75445:p.Gly268Arg SP substitution exon 1 VAR_054558 O75445:p.Leu280Phe SP substitution exon 1 VAR_054559 O75445:p.Glu284Lys SP substitution exon 1 VAR_054560 O75445:p.Arg303Cys SP substitution exon 1 VAR_054561 O75445:p.Arg303Ser SP substitution exon 1 VAR_054562 O75445:p.Ser307Ile SP substitution exon 1 VAR_054563 O75445:p.Arg334Gln SP substitution exon 1 VAR_054564 O75445:p.Thr352Ile SP substitution exon 1 VAR_054565 O75445:p.Asn357Thr SP substitution exon 1 VAR_054566 O75445:p.Leu365Phe SP substitution exon 1 VAR_054567 O75445:p.Ser391Ile SP substitution exon 1 VAR_054568 O75445:p.Arg464Cys SP substitution exon 1 VAR_054569 O75445:p.Phe479Ser SP substitution exon 1 VAR_054570 O75445:p.Gly516Val SP substitution exon 1 VAR_054571 O75445:p.Arg517Thr SP substitution exon 1 VAR_054572 O75445:p.Cys575Ser SP substitution exon 1 VAR_054574 O75445:p.Phe595Ser SP substitution exon 1 VAR_054575 O75445:p.Phe739Leu SP substitution exon 1 VAR_054576 O75445:p.Thr911Asn SP substitution exon 1 VAR_054577 O75445:p.Leu1047Val SP substitution exon 1 VAR_054578 O75445:p.Pro1059Leu SP substitution exon 1 VAR_054579 O75445:p.Pro1212Leu SP substitution exon 1 VAR_054580 O75445:p.Ser1349Pro SP substitution exon 1 VAR_054581 O75445:p.Leu1470Arg SP substitution exon 1 VAR_054582 O75445:p.Leu1572Phe SP substitution exon 1 VAR_054583 O75445:p.Tyr1757Cys SP substitution exon 1 VAR_054584 O75445:p.Val1833Glu SP substitution exon 1 VAR_054585 O75445:p.Lys2080Asn SP substitution exon 1 VAR_054586 O75445:p.Thr2086Asn SP substitution exon 1 VAR_054587 O75445:p.Glu2238Ala SP substitution exon 1 VAR_054588 O75445:p.Ala2249Asp SP substitution exon 1 VAR_054590 O75445:p.Arg2292His SP substitution exon 1 VAR_054591 O75445:p.Arg2354His SP substitution exon 1 VAR_054592 O75445:p.Val2562Ala SP substitution exon 1 VAR_054593 O75445:p.Ala2795Ser SP substitution exon 1 VAR_054594 O75445:p.Leu2886Phe SP substitution exon 1 VAR_054595 O75445:p.Glu3088Lys SP substitution exon 1 VAR_054596 O75445:p.Thr3115Ala SP substitution exon 1 VAR_054597 O75445:p.Arg3124Gly SP substitution exon 1 VAR_054598 O75445:p.Cys3251Arg SP substitution exon 1 VAR_054599 O75445:p.Cys3267Arg SP substitution exon 1 VAR_054600 O75445:p.Cys3282Arg SP substitution exon 1 VAR_054602 O75445:p.Pro3504Thr SP substitution exon 1 VAR_054603 O75445:p.Trp3521Arg SP substitution exon 1 VAR_054604 O75445:p.Thr3571Met SP substitution exon 1 VAR_054605 O75445:p.Pro3590Leu SP substitution exon 1 VAR_054606 O75445:p.Met3868Val SP substitution exon 1 VAR_054607 O75445:p.Pro3893Thr SP substitution exon 1 VAR_054608 O75445:p.Gly3895Glu SP substitution exon 1 VAR_054609 O75445:p.Thr3976Met SP substitution exon 1 VAR_054610 O75445:p.Ser4054Ile SP substitution exon 1 VAR_054611 O75445:p.Pro4232Arg SP substitution exon 1 VAR_054612 O75445:p.Thr4337Met SP substitution exon 1 VAR_054613 O75445:p.Val4433Leu SP substitution exon 1 VAR_054614 O75445:p.Thr4439Ile SP substitution exon 1 VAR_054615 O75445:p.Tyr4487Cys SP substitution exon 1 VAR_054616 O75445:p.Gln4592His SP substitution exon 1 VAR_054617 O75445:p.Phe4624Val SP substitution exon 1 VAR_054618 O75445:p.Leu4795Arg SP substitution exon 1 VAR_054619 O75445:p.Pro4818Leu SP substitution exon 1 VAR_054620 O75445:p.Arg5031Trp SP substitution exon 1 VAR_054621 A1A5B4:p.Phe93Leu SP substitution exon 1 VAR_054622 Q9Y6F1:p.His100Arg SP substitution exon 1 VAR_054623 Q9P2D1:p.His55Arg SP substitution exon 1 VAR_054624 Q9P2D1:p.Ser834Phe SP substitution exon 1 VAR_054625 Q9P2D1:p.Ala2789Thr SP substitution exon 1 VAR_054626 Q9P2D1:p.Pro2880Leu SP substitution exon 1 VAR_054627 Q9P2D1:p.Lys2948Glu SP substitution exon 1 VAR_054628 P35609:p.Gln9Arg SP substitution exon 1 VAR_054629 P22830:p.Ser264Leu SP substitution exon 1 VAR_054630 P54819:p.Arg103Trp SP substitution exon 1 VAR_054631 P54819:p.Asp165Gly SP substitution exon 1 VAR_054632 Q9NZE8:p.Ala24Thr SP substitution exon 1 VAR_054633 Q9NZE8:p.Arg29His SP substitution exon 1 VAR_054634 Q9NZE8:p.Tyr180Cys SP substitution exon 1 VAR_054635 Q86YJ6:p.Gly41Glu SP substitution exon 1 VAR_054636 Q86YJ6:p.Val108Ile SP substitution exon 1 VAR_054637 Q86YJ6:p.Thr204Asn SP substitution exon 1 VAR_054638 Q86YJ6:p.Arg324Gly SP substitution exon 1 VAR_054639 Q1L5Z9:p.Leu426Pro SP substitution exon 1 VAR_054640 Q6PEY2:p.Ser162Gly SP substitution exon 1 VAR_054641 Q6PEY2:p.Ala449Glu SP substitution exon 1 VAR_054646 Q9Y6X0:p.Val1101Ile SP substitution exon 1 VAR_054647 Q8TCB0:p.Trp9Arg SP substitution exon 1 VAR_054648 Q53G44:p.His73Arg SP substitution exon 1 VAR_054649 Q53G44:p.Ala104Thr SP substitution exon 1 VAR_054650 Q53G44:p.Arg148Cys SP substitution exon 1 VAR_054651 Q53G44:p.Val217Ile SP substitution exon 1 VAR_054652 Q53G44:p.Ile235Thr SP substitution exon 1 VAR_054653 Q53G44:p.Arg296Cys SP substitution exon 1 VAR_054654 A8K7I4:p.Leu65Phe SP substitution exon 1 VAR_054655 A8K7I4:p.Arg152Lys SP substitution exon 1 VAR_054656 A8K7I4:p.Glu406Val SP substitution exon 1 VAR_054657 A8K7I4:p.Lys426Arg SP substitution exon 1 VAR_054660 Q86WT1:p.Val446Ile SP substitution exon 1 VAR_054661 Q86UE4:p.Thr317Ala SP substitution exon 1 VAR_054663 Q96MT3:p.Arg104Gln SP substitution exon 1 VAR_054664 A4D2G3:p.Ser75Asn SP substitution exon 1 VAR_054665 A4D2G3:p.Ala209Pro SP substitution exon 1 VAR_054666 A4D1E1:p.Cys248Tyr SP substitution exon 1 VAR_054667 A4D1E1:p.Glu909Lys SP substitution exon 1 VAR_054668 A4D1E1:p.Met1105Val SP substitution exon 1 VAR_054669 A4D1E1:p.Val1195Ile SP substitution exon 1 VAR_054670 P51688:p.Asp32Glu SP substitution exon 1 VAR_054671 P51688:p.Asp32Gly SP substitution exon 1 VAR_054672 P51688:p.Asn42Lys SP substitution exon 1 VAR_054673 P51688:p.His84Tyr SP substitution exon 1 VAR_054674 P51688:p.Met88Thr SP substitution exon 1 VAR_054675 P51688:p.Ser106Arg SP substitution exon 1 VAR_054676 P51688:p.Arg150Trp SP substitution exon 1 VAR_054677 P51688:p.Leu163Pro SP substitution exon 1 VAR_054678 P51688:p.Gly191Arg SP substitution exon 1 VAR_054679 P51688:p.Asp235Asn SP substitution exon 1 VAR_054680 P51688:p.Gly251Ala SP substitution exon 1 VAR_054681 P51688:p.Asp273Asn SP substitution exon 1 VAR_054682 P51688:p.Pro288Ser SP substitution exon 1 VAR_054683 P51688:p.Pro293Ser SP substitution exon 1 VAR_054684 P51688:p.Pro293Thr SP substitution exon 1 VAR_054685 P51688:p.Glu300Val SP substitution exon 1 VAR_054699 P54802:p.Leu35Phe SP substitution exon 1 VAR_054700 P54802:p.Arg38Trp SP substitution exon 1 VAR_054701 P54802:p.Phe48Cys SP substitution exon 1 VAR_054702 P54802:p.Gly69Ser SP substitution exon 1 VAR_054703 P54802:p.Val77Gly SP substitution exon 1 VAR_054704 P54802:p.Gly79Ser SP substitution exon 1 VAR_054705 P54802:p.Gly82Asp SP substitution exon 1 VAR_054706 P54802:p.Arg130Cys SP substitution exon 1 VAR_054707 P54802:p.Ile154Arg SP substitution exon 1 VAR_054708 P54802:p.Trp156Cys SP substitution exon 1 VAR_054709 P54802:p.His227Pro SP substitution exon 1 VAR_054710 P54802:p.Arg234Cys SP substitution exon 1 VAR_054711 P54802:p.Val241Met SP substitution exon 1 VAR_054712 P54802:p.Leu242Pro SP substitution exon 1 VAR_054713 P54802:p.Ala246Pro SP substitution exon 1 VAR_054714 P54802:p.His248Arg SP substitution exon 1 VAR_054715 P54802:p.Trp268Arg SP substitution exon 1 VAR_054716 P54802:p.Tyr309Cys SP substitution exon 1 VAR_054717 P54802:p.Val334Phe SP substitution exon 1 VAR_054718 P54802:p.Tyr335Cys SP substitution exon 1 VAR_054719 P54802:p.Phe410Ser SP substitution exon 1 VAR_054720 P54802:p.Gly412Glu SP substitution exon 1 VAR_054721 P54802:p.His414Arg SP substitution exon 1 VAR_054722 P54802:p.Thr437Ile SP substitution exon 1 VAR_054723 P54802:p.Glu446Lys SP substitution exon 1 VAR_054724 P54802:p.Tyr455Cys SP substitution exon 1 VAR_054725 P54802:p.Trp474Gly SP substitution exon 1 VAR_054726 P54802:p.Arg482Gln SP substitution exon 1 VAR_054727 P54802:p.Val501Gly SP substitution exon 1 VAR_054728 P54802:p.Pro516Leu SP substitution exon 1 VAR_054729 P54802:p.Arg520Trp SP substitution exon 1 VAR_054730 P54802:p.Ser534Tyr SP substitution exon 1 VAR_054731 P54802:p.Leu560Pro SP substitution exon 1 VAR_054732 P54802:p.Leu591Pro SP substitution exon 1 VAR_054733 P54802:p.Ser612Gly SP substitution exon 1 VAR_054734 P54802:p.Leu617Phe SP substitution exon 1 VAR_054735 P54802:p.Trp649Cys SP substitution exon 1 VAR_054736 P54802:p.Gly650Glu SP substitution exon 1 VAR_054737 P54802:p.Tyr658Phe SP substitution exon 1 VAR_054738 P54802:p.Arg674Cys SP substitution exon 1 VAR_054739 P54802:p.Arg676Pro SP substitution exon 1 VAR_054740 Q5S007:p.Cys228Ser SP substitution exon 1 VAR_054741 Q5S007:p.Met712Val SP substitution exon 1 VAR_054742 Q5S007:p.Ala716Val SP substitution exon 1 VAR_054743 Q5S007:p.Lys871Glu SP substitution exon 1 VAR_054752 O00222:p.Arg343Gln SP substitution exon 1 VAR_054753 O00222:p.Ile768Asn SP substitution exon 1 VAR_054754 O00222:p.Ser902Ile SP substitution exon 1 VAR_054755 P11166:p.Asn34Ile SP substitution exon 1 VAR_054756 P11166:p.Asn34Ser SP substitution exon 1 VAR_054757 P11166:p.Arg126Cys SP substitution exon 1 VAR_054758 P11166:p.Gly130Ser SP substitution exon 1 VAR_054759 P11166:p.Arg153Cys SP substitution exon 1 VAR_054761 P11166:p.Ala275Thr SP substitution exon 1 VAR_054763 P11166:p.Thr295Met SP substitution exon 1 VAR_054764 P11166:p.Gly314Ser SP substitution exon 1 VAR_054765 Q9Y483:p.Cys140Ser SP substitution exon 1 VAR_054766 P10586:p.Ala412Val SP substitution exon 1 VAR_054767 Q9GZN0:p.Val190Ile SP substitution exon 1 VAR_054768 Q9GZN0:p.Gln318His SP substitution exon 1 VAR_054769 P01222:p.Thr14Ala SP substitution exon 1 VAR_054774 Q7Z3Z3:p.Val471Ile SP substitution exon 1 VAR_054775 Q9H2F3:p.Gly19Ser SP substitution exon 1 VAR_054776 Q9H2F3:p.Glu147Lys SP substitution exon 1 VAR_054777 Q5SY16:p.Arg10Trp SP substitution exon 1 VAR_054778 Q5SY16:p.Trp50Arg SP substitution exon 1 VAR_054779 Q5SY16:p.Ser58Ala SP substitution exon 1 VAR_054780 Q3LXA3:p.Ala334Gly SP substitution exon 1 VAR_054781 Q9UJ71:p.Ala55Val SP substitution exon 1 VAR_054782 Q9UJ71:p.Pro213Ser SP substitution exon 1 VAR_054783 Q9UJ71:p.Val278Ala SP substitution exon 1 VAR_054784 Q9UJ71:p.Asn288Asp SP substitution exon 1 VAR_054785 P10809:p.Asp29Gly SP substitution exon 1 VAR_054786 P22460:p.Arg578Lys SP substitution exon 1 VAR_054788 Q9NVV9:p.Phe81Leu SP substitution exon 1 VAR_054791 P17017:p.Thr274Ser SP substitution exon 1 VAR_054792 P17023:p.Gln218His SP substitution exon 1 VAR_054793 P17023:p.Arg224Gln SP substitution exon 1 VAR_054794 P17038:p.Ser718Pro SP substitution exon 1 VAR_054795 P17019:p.Ala71Val SP substitution exon 1 VAR_054796 P17019:p.Lys113Glu SP substitution exon 1 VAR_054797 P17019:p.Lys122Thr SP substitution exon 1 VAR_054798 P17019:p.Arg130Gln SP substitution exon 1 VAR_054799 P17040:p.Asp248Asn SP substitution exon 1 VAR_054800 P17040:p.Tyr432Asp SP substitution exon 1 VAR_054802 O95671:p.Val458Met SP substitution exon 1 VAR_054803 O95671:p.Arg541Lys SP substitution exon 1 VAR_054804 P53985:p.Ser85Gly SP substitution exon 1 VAR_054805 Q9HBA0:p.Arg616Gln SP substitution exon 1 VAR_054806 Q9HBA0:p.Val620Ile SP substitution exon 1 VAR_054807 O15232:p.Arg70His SP substitution exon 1 VAR_054808 O15232:p.Thr195Lys SP substitution exon 1 VAR_054809 O15232:p.Tyr218Asn SP substitution exon 1 VAR_054810 Q8NCE0:p.Tyr309Cys SP substitution exon 1 VAR_054811 Q9BSV6:p.Arg58Trp SP substitution exon 1 VAR_054812 Q7Z6J9:p.Ser93Pro SP substitution exon 1 VAR_054813 Q7Z6J9:p.Ala307Ser SP substitution exon 1 VAR_054814 A7E2Y1:p.Lys965Glu SP substitution exon 1 VAR_054815 P32456:p.Ser281Pro SP substitution exon 1 VAR_054816 P32456:p.Pro285Ala SP substitution exon 1 VAR_054817 P32456:p.Ser303Gly SP substitution exon 1 VAR_054818 O60840:p.Arg1930His SP substitution exon 1 VAR_054819 P12236:p.Ser242Phe SP substitution exon 1 VAR_054820 P08514:p.Gly313Ala SP substitution exon 1 VAR_054821 P08514:p.Val649Leu SP substitution exon 1 VAR_054822 Q16602:p.Asn8Tyr SP substitution exon 1 VAR_054828 Q8IZU9:p.Arg40Trp SP substitution exon 1 VAR_054829 Q8IZU9:p.Arg336Gln SP substitution exon 1 VAR_054830 Q8IZU9:p.Val731Phe SP substitution exon 1 VAR_054831 Q92562:p.Asp48Gly SP substitution exon 1 VAR_054832 Q92562:p.Asp53Tyr SP substitution exon 1 VAR_054833 Q92562:p.Arg388Gly SP substitution exon 1 VAR_054834 Q92562:p.Ile411Val SP substitution exon 1 VAR_054835 Q92562:p.Tyr647Cys SP substitution exon 1 VAR_054836 Q92562:p.Ile902Thr SP substitution exon 1 VAR_054837 P35637:p.Arg244Cys SP substitution exon 1 VAR_054838 P35637:p.Arg514Gly SP substitution exon 1 VAR_054839 P35637:p.Arg514Ser SP substitution exon 1 VAR_054840 P35637:p.Gly515Cys SP substitution exon 1 VAR_054841 P35637:p.His517Gln SP substitution exon 1 VAR_054842 P35637:p.Arg518Lys SP substitution exon 1 VAR_054843 P35637:p.Arg521Cys SP substitution exon 1 VAR_054844 P35637:p.Arg521Gly SP substitution exon 1 VAR_054845 P35637:p.Arg521His SP substitution exon 1 VAR_054846 P35637:p.Arg522Gly SP substitution exon 1 VAR_054847 P35637:p.Arg524Ser SP substitution exon 1 VAR_054848 P35637:p.Arg524Thr SP substitution exon 1 VAR_054849 P35637:p.Pro525Leu SP substitution exon 1 VAR_054850 O00400:p.Ser113Arg SP substitution exon 1 VAR_054851 O43837:p.Leu132Pro SP substitution exon 1 VAR_054852 Q9HAC7:p.Arg336Trp SP substitution exon 1 VAR_054853 Q9UIG8:p.Glu294Asp SP substitution exon 1 VAR_054854 O96033:p.Val7Phe SP substitution exon 1 VAR_054855 O00159:p.Val795Ile SP substitution exon 1 VAR_054856 O00159:p.Gln826Arg SP substitution exon 1 VAR_054857 P12318:p.Gln63Arg SP substitution exon 1 VAR_054858 P12318:p.Met140Val SP substitution exon 1 VAR_054859 P12318:p.Ile218Val SP substitution exon 1 VAR_054860 Q9Y2T1:p.Ser50Pro SP substitution exon 1 VAR_054861 Q9Y3A0:p.Gly50Ala SP substitution exon 1 VAR_054862 O60343:p.Leu1284Ile SP substitution exon 1 VAR_054863 P35790:p.Ser220Gly SP substitution exon 1 VAR_054864 P35790:p.Leu422Gln SP substitution exon 1 VAR_054865 P41250:p.Pro42Ala SP substitution exon 1 VAR_054866 P41250:p.Thr268Ile SP substitution exon 1 VAR_054867 P41250:p.Arg388Gln SP substitution exon 1 VAR_054868 P35913:p.Val320Ile SP substitution exon 1 VAR_054869 P35913:p.Glu654Asp SP substitution exon 1 VAR_054870 P41231:p.Pro46Leu SP substitution exon 1 VAR_054871 P41231:p.Arg312Ser SP substitution exon 1 VAR_054872 P41231:p.Arg334Cys SP substitution exon 1 VAR_054873 O43323:p.Leu162Pro SP substitution exon 1 VAR_054874 Q86TH1:p.Arg113His SP substitution exon 1 VAR_054875 Q86TH1:p.Glu114Lys SP substitution exon 1 VAR_054876 Q86TH1:p.Pro147Leu SP substitution exon 1 VAR_054877 Q86TH1:p.Gly811Arg SP substitution exon 1 VAR_054878 Q14693:p.Ser637Thr SP substitution exon 1 VAR_054879 O43316:p.Arg39Gln SP substitution exon 1 VAR_054880 O43316:p.Arg45Trp SP substitution exon 1 VAR_054881 O43316:p.Arg129Trp SP substitution exon 1 VAR_054882 O43316:p.Arg141Trp SP substitution exon 1 VAR_054883 O43316:p.Arg172Trp SP substitution exon 1 VAR_054884 O43316:p.Arg191Cys SP substitution exon 1 VAR_054885 O43316:p.Arg200His SP substitution exon 1 VAR_054886 O43316:p.Arg200Ser SP substitution exon 1 VAR_054887 O15455:p.Pro554Ser SP substitution exon 1 VAR_054888 Q9GZL7:p.Ile75Val SP substitution exon 1 VAR_054889 P38570:p.Ile477Val SP substitution exon 1 VAR_054890 P38570:p.Arg482Gln SP substitution exon 1 VAR_054891 P38570:p.Val1019Ala SP substitution exon 1 VAR_054892 O75385:p.Thr816Ala SP substitution exon 1 VAR_054893 Q7L5A8:p.Asp35Tyr SP substitution exon 1 VAR_054894 P03951:p.Cys46Phe SP substitution exon 1 VAR_054895 P03951:p.Cys56Arg SP substitution exon 1 VAR_054896 P03951:p.Lys101Arg SP substitution exon 1 VAR_054897 P03951:p.Tyr151Cys SP substitution exon 1 VAR_054898 P03951:p.Cys255Tyr SP substitution exon 1 VAR_054899 P03951:p.Gly263Glu SP substitution exon 1 VAR_054900 P03951:p.Lys270Ile SP substitution exon 1 VAR_054901 P03951:p.Gly418Val SP substitution exon 1 VAR_054902 P03951:p.Tyr511His SP substitution exon 1 VAR_054903 P03951:p.Pro538Leu SP substitution exon 1 VAR_054904 P03951:p.Glu565Lys SP substitution exon 1 VAR_054905 P03951:p.Trp587Ser SP substitution exon 1 VAR_054906 P03951:p.Ile618Ser SP substitution exon 1 VAR_054907 P03952:p.Gly123Arg SP substitution exon 1 VAR_054909 P43026:p.Leu373Arg SP substitution exon 1 VAR_054910 P43026:p.Arg378Gln SP substitution exon 1 VAR_054911 P43026:p.Pro436Thr SP substitution exon 1 VAR_054913 O60568:p.Asn223Ser SP substitution exon 1 VAR_054914 Q86TB3:p.Lys2Thr SP substitution exon 1 VAR_054915 Q86TB3:p.Arg136Ser SP substitution exon 1 VAR_054916 Q86TB3:p.His719Gln SP substitution exon 1 VAR_054917 Q86TB3:p.Gly810Ser SP substitution exon 1 VAR_054918 Q86TB3:p.Arg825Thr SP substitution exon 1 VAR_054919 Q86TB3:p.Lys829Asn SP substitution exon 1 VAR_054920 Q86TB3:p.Ser884Leu SP substitution exon 1 VAR_054921 Q86TB3:p.Thr891Ile SP substitution exon 1 VAR_054922 Q86TB3:p.Asn916Lys SP substitution exon 1 VAR_054923 Q86TB3:p.Ser977Thr SP substitution exon 1 VAR_054924 Q86TB3:p.Leu1057Val SP substitution exon 1 VAR_054925 Q86TB3:p.Lys1134Asn SP substitution exon 1 VAR_054926 Q86TB3:p.His1174Pro SP substitution exon 1 VAR_054934 P35499:p.Ile141Val SP substitution exon 1 VAR_054935 P35499:p.Arg222Trp SP substitution exon 1 VAR_054936 P35499:p.Gln270Lys SP substitution exon 1 VAR_054937 P35499:p.Glu452Lys SP substitution exon 1 VAR_054938 P35499:p.Phe671Ser SP substitution exon 1 VAR_054939 P35499:p.Arg672Cys SP substitution exon 1 VAR_054940 P35499:p.Ala715Thr SP substitution exon 1 VAR_054941 P35499:p.Val781Ile SP substitution exon 1 VAR_054942 P35499:p.Ser804Asn SP substitution exon 1 VAR_054943 P35499:p.Arg1132Gln SP substitution exon 1 VAR_054944 P35499:p.Arg1135His SP substitution exon 1 VAR_054945 P35499:p.Asn1297Lys SP substitution exon 1 VAR_054946 P35499:p.Ile1310Asn SP substitution exon 1 VAR_054947 P35499:p.Leu1436Pro SP substitution exon 1 VAR_054948 P35499:p.Arg1448Leu SP substitution exon 1 VAR_054949 P35499:p.Phe1473Ser SP substitution exon 1 VAR_054950 P35499:p.Met1476Ile SP substitution exon 1 VAR_054951 P35499:p.Ala1481Asp SP substitution exon 1 VAR_054952 P35499:p.Phe1705Ile SP substitution exon 1 VAR_054953 Q13698:p.Arg528Gly SP substitution exon 1 VAR_054954 Q13698:p.Arg900Ser SP substitution exon 1 VAR_054955 Q8WZ04:p.Arg81Gln SP substitution exon 1 VAR_054956 Q8WZ04:p.Trp105Arg SP substitution exon 1 VAR_054957 Q8WZ04:p.Glu110Lys SP substitution exon 1 VAR_054958 Q8N3Z6:p.Gly118Asp SP substitution exon 1 VAR_054959 Q8N3Z6:p.Arg539Lys SP substitution exon 1 VAR_054960 Q8N6C5:p.Asn381His SP substitution exon 1 VAR_054961 P47888:p.Leu132Phe SP substitution exon 1 VAR_054962 P47888:p.Trp158Leu SP substitution exon 1 VAR_054963 P47888:p.Met287Val SP substitution exon 1 VAR_054964 P47888:p.Lys317Glu SP substitution exon 1 VAR_054965 Q86VD9:p.Ala266Thr SP substitution exon 1 VAR_054966 P55291:p.Val8Leu SP substitution exon 1 VAR_054967 P55291:p.Arg60Cys SP substitution exon 1 VAR_054968 P55291:p.Arg92Trp SP substitution exon 1 VAR_054969 P55291:p.Ala122Val SP substitution exon 1 VAR_054970 Q9NZ71:p.Asn124Ser SP substitution exon 1 VAR_054972 O75360:p.Asn20Ser SP substitution exon 1 VAR_054973 O75360:p.Arg125Trp SP substitution exon 1 VAR_054974 O75366:p.Lys204Glu SP substitution exon 1 VAR_054975 Q13258:p.Gly198Glu SP substitution exon 1 VAR_054976 Q13258:p.Arg332Gln SP substitution exon 1 VAR_054977 P05546:p.Glu447Lys SP substitution exon 1 VAR_054978 P05546:p.Pro462Leu SP substitution exon 1 VAR_054979 P35556:p.Thr594Ser SP substitution exon 1 VAR_054980 P35556:p.Arg681His SP substitution exon 1 VAR_054981 P35556:p.Gly1057Asp SP substitution exon 1 VAR_054982 P35556:p.Ile1093Thr SP substitution exon 1 VAR_054983 P35556:p.Gly1179Cys SP substitution exon 1 VAR_054984 P35556:p.Cys1198Tyr SP substitution exon 1 VAR_054985 P35556:p.Cys1240Arg SP substitution exon 1 VAR_054986 P35556:p.Cys1257Trp SP substitution exon 1 VAR_054987 P35556:p.Cys1268Arg SP substitution exon 1 VAR_054988 P35556:p.Trp1772Gly SP substitution exon 1 VAR_054989 P35556:p.Phe2266Leu SP substitution exon 1 VAR_054990 P35556:p.Leu2581Ser SP substitution exon 1 VAR_054991 P16157:p.Leu276Arg SP substitution exon 1 VAR_054992 P16157:p.Ile1054Thr SP substitution exon 1 VAR_054993 Q9ULV0:p.Val108Gly SP substitution exon 1 VAR_054994 Q9ULV0:p.Arg219His SP substitution exon 1 VAR_054995 Q9ULV0:p.Arg656Cys SP substitution exon 1 VAR_054997 P49792:p.Thr585Met SP substitution exon 1 VAR_054998 P49792:p.Thr653Ile SP substitution exon 1 VAR_054999 P49792:p.Ile656Val SP substitution exon 1 VAR_055000 P41968:p.Ile146Asn SP substitution exon 1 VAR_055001 P41968:p.Ile298Ser SP substitution exon 1 VAR_055002 P29120:p.Ser307Leu SP substitution exon 1 VAR_055003 P42081:p.Val185Ile SP substitution exon 1 VAR_055004 P23769:p.Ala164Thr SP substitution exon 1 VAR_055005 P23769:p.Thr235Asn SP substitution exon 1 VAR_055006 P14317:p.Thr235Ala SP substitution exon 1 VAR_055007 P14317:p.Glu361Lys SP substitution exon 1 VAR_055008 O15067:p.Pro19Ser SP substitution exon 1 VAR_055009 O15067:p.Pro367Leu SP substitution exon 1 VAR_055010 O15067:p.Phe481Tyr SP substitution exon 1 VAR_055011 O15067:p.Leu621Pro SP substitution exon 1 VAR_055012 O15072:p.Arg138Lys SP substitution exon 1 VAR_055013 O15072:p.Ser1074Pro SP substitution exon 1 VAR_055014 O43379:p.Lys289Arg SP substitution exon 1 VAR_055015 O43379:p.Gln1305Leu SP substitution exon 1 VAR_055016 O43424:p.Thr68Met SP substitution exon 1 VAR_055017 O43424:p.Phe398Ser SP substitution exon 1 VAR_055018 O43424:p.Val490Ile SP substitution exon 1 VAR_055019 O60504:p.Ile556Thr SP substitution exon 1 VAR_055020 O60504:p.Thr573Ala SP substitution exon 1 VAR_055021 O75150:p.Arg463His SP substitution exon 1 VAR_055022 O75150:p.Gln615Arg SP substitution exon 1 VAR_055023 O75155:p.Gln408Arg SP substitution exon 1 VAR_055024 O75155:p.Pro476Leu SP substitution exon 1 VAR_055025 O75155:p.Ser533Pro SP substitution exon 1 VAR_055026 O75155:p.His655Arg SP substitution exon 1 VAR_055027 O75155:p.Leu845Phe SP substitution exon 1 VAR_055028 O75155:p.His858Pro SP substitution exon 1 VAR_055029 O75155:p.Val990Ile SP substitution exon 1 VAR_055030 O75155:p.Ala1225Thr SP substitution exon 1 VAR_055033 P11509:p.Phe392Tyr SP substitution exon 1 VAR_055034 P11509:p.Arg203Cys SP substitution exon 1 VAR_055035 P11509:p.Val110Leu SP substitution exon 1 VAR_055036 P11509:p.Arg128Leu SP substitution exon 1 VAR_055037 P11509:p.Ser131Ala SP substitution exon 1 VAR_055038 P11509:p.Asn438Tyr SP substitution exon 1 VAR_055039 Q9HDC9:p.Arg282Gln SP substitution exon 1 VAR_055040 Q9HDC9:p.Arg374Trp SP substitution exon 1 VAR_055041 P32241:p.Arg341Met SP substitution exon 1 VAR_055042 Q68CQ1:p.Lys455Arg SP substitution exon 1 VAR_055043 Q68CQ1:p.Val509Ala SP substitution exon 1 VAR_055044 Q68CQ1:p.His618Arg SP substitution exon 1 VAR_055045 O43520:p.Ala1152Thr SP substitution exon 1 VAR_055046 O60240:p.Pro194Ala SP substitution exon 1 VAR_055047 O60240:p.Lys210Glu SP substitution exon 1 VAR_055048 O60240:p.Ser348Leu SP substitution exon 1 VAR_055049 P49454:p.Gln250Leu SP substitution exon 1 VAR_055050 P49454:p.Asp272Gly SP substitution exon 1 VAR_055051 Q8NG84:p.Ser99Asn SP substitution exon 1 VAR_055052 Q8NG84:p.Val203Met SP substitution exon 1 VAR_055053 Q8NGL6:p.Pro26Ser SP substitution exon 1 VAR_055054 Q8NGL6:p.Ala287Val SP substitution exon 1 VAR_055055 Q8NGI3:p.Cys106Arg SP substitution exon 1 VAR_055056 Q8NGR2:p.Gln59Lys SP substitution exon 1 VAR_055057 Q8NGR2:p.Cys186Tyr SP substitution exon 1 VAR_055058 Q8NGR2:p.Ile251Thr SP substitution exon 1 VAR_055059 Q8NGR2:p.Met259Ile SP substitution exon 1 VAR_055060 Q8NH41:p.Asn89Ser SP substitution exon 1 VAR_055061 Q8NH41:p.Glu112Val SP substitution exon 1 VAR_055062 Q8NH41:p.Ser117Ala SP substitution exon 1 VAR_055063 Q8NH41:p.Ala255Glu SP substitution exon 1 VAR_055064 Q8NH41:p.Leu304Pro SP substitution exon 1 VAR_055065 Q8NH41:p.Ile310Met SP substitution exon 1 VAR_055066 Q8NGY3:p.Gly20Arg SP substitution exon 1 VAR_055067 Q8NGY3:p.Pro244Ser SP substitution exon 1 VAR_055068 Q8NGY3:p.Pro264Leu SP substitution exon 1 VAR_055069 Q8NGY3:p.Arg308Lys SP substitution exon 1 VAR_055070 Q8NGV5:p.Phe21Leu SP substitution exon 1 VAR_055071 Q8NGV5:p.Leu64Val SP substitution exon 1 VAR_055072 Q8NGV5:p.Gln191His SP substitution exon 1 VAR_055073 Q8NGV5:p.Ser277Leu SP substitution exon 1 VAR_055074 P04070:p.Arg42Ser SP substitution exon 1 VAR_055075 Q92729:p.Thr60Asn SP substitution exon 1 VAR_055076 Q92729:p.Arg471Leu SP substitution exon 1 VAR_055077 Q92729:p.Asn940Ser SP substitution exon 1 VAR_055078 Q8NGH7:p.Asp88Asn SP substitution exon 1 VAR_055079 Q8NGH7:p.Cys140Arg SP substitution exon 1 VAR_055080 Q8NGH7:p.Cys161Arg SP substitution exon 1 VAR_055081 Q8NGH7:p.Lys183Thr SP substitution exon 1 VAR_055082 Q8NGH7:p.Trp297Arg SP substitution exon 1 VAR_055083 Q9C086:p.Trp152Gly SP substitution exon 1 VAR_055084 Q13427:p.Asp445Glu SP substitution exon 1 VAR_055085 Q13427:p.Asn699Asp SP substitution exon 1 VAR_055086 Q16613:p.Ala129Thr SP substitution exon 1 VAR_055087 P40337:p.His110Tyr SP substitution exon 1 VAR_055088 P30531:p.Pro521Gln SP substitution exon 1 VAR_055089 O95196:p.Gly188Val SP substitution exon 1 VAR_055090 O95196:p.Thr417Pro SP substitution exon 1 VAR_055091 Q13797:p.Gly507Glu SP substitution exon 1 VAR_055093 Q8IYE1:p.Arg25Trp SP substitution exon 1 VAR_055094 Q8IYE1:p.Glu375Val SP substitution exon 1 VAR_055095 Q9H5V8:p.Ala673Val SP substitution exon 1 VAR_055096 Q8N6M8:p.Gln76Lys SP substitution exon 1 VAR_055097 Q8NE62:p.Leu78Arg SP substitution exon 1 VAR_055100 Q96S65:p.Val453Ile SP substitution exon 1 VAR_055101 Q9NYQ7:p.Gln1758Arg SP substitution exon 1 VAR_055102 Q9UNU6:p.Ser88Pro SP substitution exon 1 VAR_055103 Q9UNU6:p.Lys238Arg SP substitution exon 1 VAR_055104 Q9UNU6:p.Leu357Phe SP substitution exon 1 VAR_055105 Q9UPA5:p.Ala741Thr SP substitution exon 1 VAR_055106 Q9UPA5:p.Gly1213Asp SP substitution exon 1 VAR_055107 Q9UPA5:p.Ala3863Thr SP substitution exon 1 VAR_055108 Q9Y267:p.Pro108His SP substitution exon 1 VAR_055109 Q9Y267:p.Lys112Glu SP substitution exon 1 VAR_055110 Q9Y267:p.Ile144Thr SP substitution exon 1 VAR_055111 Q9Y267:p.Ser245Leu SP substitution exon 1 VAR_055112 Q9Y267:p.Val284Met SP substitution exon 1 VAR_055113 Q9Y267:p.Ser292Gly SP substitution exon 1 VAR_055114 Q9Y267:p.Leu466Pro SP substitution exon 1 VAR_055115 Q9Y267:p.Ala512Val SP substitution exon 1 VAR_055116 Q9Y267:p.Pro560Arg SP substitution exon 1 VAR_055117 O00626:p.Asp2Ala SP substitution exon 1 VAR_055118 O15397:p.Ile6Phe SP substitution exon 1 VAR_055119 O15397:p.Ile640Val SP substitution exon 1 VAR_055121 O14830:p.Val394Leu SP substitution exon 1 VAR_055122 O14830:p.Glu412Lys SP substitution exon 1 VAR_055123 O14830:p.Arg553Lys SP substitution exon 1 VAR_055124 O14830:p.Ser575Cys SP substitution exon 1 VAR_055125 O60437:p.Arg520Gln SP substitution exon 1 VAR_055126 O60437:p.Ala572Ser SP substitution exon 1 VAR_055127 O60437:p.Arg589Gln SP substitution exon 1 VAR_055128 O60437:p.His631Tyr SP substitution exon 1 VAR_055129 O60437:p.Arg819Ser SP substitution exon 1 VAR_055130 O60437:p.Glu891Gln SP substitution exon 1 VAR_055131 O60437:p.Ala1007Val SP substitution exon 1 VAR_055132 O60437:p.Glu1199Gln SP substitution exon 1 VAR_055133 O60437:p.Gln1573Glu SP substitution exon 1 VAR_055134 O60437:p.Gly1754Arg SP substitution exon 1 VAR_055135 O75691:p.Met120Thr SP substitution exon 1 VAR_055136 O75691:p.Leu1882Gln SP substitution exon 1 VAR_055137 O76015:p.Ser423Pro SP substitution exon 1 VAR_055138 Q96K78:p.Lys151Glu SP substitution exon 1 VAR_055139 Q9BSK1:p.Ala84Val SP substitution exon 1 VAR_055140 Q9BSK1:p.Arg123Cys SP substitution exon 1 VAR_055141 Q9BSK1:p.Arg234Lys SP substitution exon 1 VAR_055142 Q9BSK1:p.Lys246Glu SP substitution exon 1 VAR_055143 Q9BSK1:p.Arg346Cys SP substitution exon 1 VAR_055144 Q9BSK1:p.Glu373Lys SP substitution exon 1 VAR_055145 Q9BSK1:p.Thr375Ile SP substitution exon 1 VAR_055146 Q96NA8:p.Phe18Leu SP substitution exon 1 VAR_055147 Q96RD0:p.Leu27Phe SP substitution exon 1 VAR_055148 Q99807:p.Thr103Met SP substitution exon 1 VAR_055150 Q7L1S5:p.Ser122Asn SP substitution exon 1 VAR_055151 O75191:p.Asp85Glu SP substitution exon 1 VAR_055152 O75191:p.Asp133Asn SP substitution exon 1 VAR_055153 O75191:p.Asp139Glu SP substitution exon 1 VAR_055154 O75191:p.Tyr262Asn SP substitution exon 1 VAR_055155 O75191:p.Asn348Asp SP substitution exon 1 VAR_055156 Q9BUM1:p.Leu185Pro SP substitution exon 1 VAR_055157 Q9BUM1:p.Arg253His SP substitution exon 1 VAR_055158 Q9BUM1:p.Gly262Arg SP substitution exon 1 VAR_055159 Q14524:p.Arg43Gln SP substitution exon 1 VAR_055160 Q14524:p.Val95Ile SP substitution exon 1 VAR_055161 Q14524:p.Met138Ile SP substitution exon 1 VAR_055162 Q14524:p.Leu212Pro SP substitution exon 1 VAR_055163 Q14524:p.Ser216Leu SP substitution exon 1 VAR_055164 Q14524:p.Arg225Trp SP substitution exon 1 VAR_055165 Q14524:p.Val232Ile SP substitution exon 1 VAR_055166 Q14524:p.Leu325Arg SP substitution exon 1 VAR_055167 Q14524:p.Pro336Leu SP substitution exon 1 VAR_055168 Q14524:p.Thr353Ile SP substitution exon 1 VAR_055169 Q14524:p.Arg376His SP substitution exon 1 VAR_055170 Q14524:p.Asn406Lys SP substitution exon 1 VAR_055171 Q14524:p.Asn406Ser SP substitution exon 1 VAR_055172 Q14524:p.Glu428Lys SP substitution exon 1 VAR_055173 Q14524:p.His445Asp SP substitution exon 1 VAR_055174 Q14524:p.Leu461Val SP substitution exon 1 VAR_055175 Q14524:p.Asn470Lys SP substitution exon 1 VAR_055176 Q14524:p.Arg481Trp SP substitution exon 1 VAR_055177 Q14524:p.Phe532Cys SP substitution exon 1 VAR_055178 Q14524:p.Ala572Asp SP substitution exon 1 VAR_055180 Q14524:p.Glu655Lys SP substitution exon 1 VAR_055181 Q14524:p.Arg680His SP substitution exon 1 VAR_055182 Q14524:p.Arg814Gln SP substitution exon 1 VAR_055183 Q14524:p.Arg878Cys SP substitution exon 1 VAR_055184 Q14524:p.Arg1023His SP substitution exon 1 VAR_055185 Q14524:p.Gly1084Ser SP substitution exon 1 VAR_055186 Q14524:p.Thr1131Ile SP substitution exon 1 VAR_055187 Q14524:p.Glu1295Lys SP substitution exon 1 VAR_055188 Q14524:p.Leu1308Phe SP substitution exon 1 VAR_055189 Q14524:p.Ala1330Pro SP substitution exon 1 VAR_055190 Q14524:p.Ala1330Thr SP substitution exon 1 VAR_055191 Q14524:p.Pro1332Leu SP substitution exon 1 VAR_055192 Q14524:p.Arg1432Gly SP substitution exon 1 VAR_055193 Q14524:p.Pro1438Leu SP substitution exon 1 VAR_055194 Q14524:p.Phe1473Cys SP substitution exon 1 VAR_055195 Q14524:p.Phe1486Leu SP substitution exon 1 VAR_055196 Q14524:p.Tyr1494Asn SP substitution exon 1 VAR_055198 Q14524:p.Lys1527Arg SP substitution exon 1 VAR_055199 Q14524:p.Ala1569Pro SP substitution exon 1 VAR_055201 Q14524:p.Thr1620Lys SP substitution exon 1 VAR_055202 Q14524:p.Arg1626Pro SP substitution exon 1 VAR_055203 Q14524:p.Arg1644Cys SP substitution exon 1 VAR_055204 Q14524:p.Ala1649Val SP substitution exon 1 VAR_055205 Q14524:p.Met1652Arg SP substitution exon 1 VAR_055206 Q14524:p.Ile1660Val SP substitution exon 1 VAR_055207 Q14524:p.Phe1705Ser SP substitution exon 1 VAR_055208 Q14524:p.Gly1743Arg SP substitution exon 1 VAR_055209 Q14524:p.Val1763Met SP substitution exon 1 VAR_055210 Q14524:p.Met1766Leu SP substitution exon 1 VAR_055211 Q14524:p.Ile1768Val SP substitution exon 1 VAR_055212 Q14524:p.Val1777Met SP substitution exon 1 VAR_055213 Q14524:p.Leu1825Pro SP substitution exon 1 VAR_055214 Q14524:p.Arg1826Cys SP substitution exon 1 VAR_055215 Q14524:p.Cys1850Ser SP substitution exon 1 VAR_055216 Q14524:p.Met1875Thr SP substitution exon 1 VAR_055217 Q14524:p.Ser1904Leu SP substitution exon 1 VAR_055218 Q14524:p.Gly1935Ser SP substitution exon 1 VAR_055219 Q14524:p.Val1951Met SP substitution exon 1 VAR_055220 Q14524:p.Ile1968Ser SP substitution exon 1 VAR_055221 Q14524:p.Phe2004Leu SP substitution exon 1 VAR_055222 Q14524:p.Pro2006Ala SP substitution exon 1 VAR_055223 P36952:p.Ser176Pro SP substitution exon 1 VAR_055224 P36952:p.Val187Leu SP substitution exon 1 VAR_055225 P38935:p.Ala75Thr SP substitution exon 1 VAR_055226 P38935:p.Pro557Ala SP substitution exon 1 VAR_055228 Q9UBM4:p.Ile182Thr SP substitution exon 1 VAR_055229 Q9UBM4:p.Arg229Cys SP substitution exon 1 VAR_055230 Q9UBM4:p.Arg325Trp SP substitution exon 1 VAR_055231 Q96PD5:p.Arg394Gln SP substitution exon 1 VAR_055232 P00734:p.Glu72Gly SP substitution exon 1 VAR_055234 O14958:p.Arg33Gln SP substitution exon 1 VAR_055235 Q5TD94:p.Pro87Ser SP substitution exon 1 VAR_055237 O00592:p.Gly112Ser SP substitution exon 1 VAR_055238 O00592:p.Val358Ile SP substitution exon 1 VAR_055239 Q9UGK3:p.Asp93Asn SP substitution exon 1 VAR_055240 Q8TAW3:p.Pro237Ser SP substitution exon 1 VAR_055241 Q8TC27:p.Gln98Arg SP substitution exon 1 VAR_055242 Q8TC27:p.Ser160Gly SP substitution exon 1 VAR_055243 Q8TC27:p.Leu327Val SP substitution exon 1 VAR_055244 Q8TC27:p.Lys658Asn SP substitution exon 1 VAR_055245 Q8TCE9:p.Cys67Arg SP substitution exon 1 VAR_055246 Q8TCE9:p.Phe127Leu SP substitution exon 1 VAR_055247 P17535:p.Gly20Val SP substitution exon 1 VAR_055248 P19823:p.Asn263Ser SP substitution exon 1 VAR_055249 P19823:p.Leu569Val SP substitution exon 1 VAR_055250 P19823:p.Pro674Ala SP substitution exon 1 VAR_055251 P20585:p.Tyr789Phe SP substitution exon 1 VAR_055252 P26045:p.Asp77Asn SP substitution exon 1 VAR_055253 P26045:p.Ala90Pro SP substitution exon 1 VAR_055254 P26045:p.Thr409Ala SP substitution exon 1 VAR_055255 P26045:p.Phe605Leu SP substitution exon 1 VAR_055257 P28908:p.Cys297Arg SP substitution exon 1 VAR_055258 P28908:p.Pro314Ser SP substitution exon 1 VAR_055259 P28908:p.Gln466Arg SP substitution exon 1 VAR_055260 P18577:p.Ala127Val SP substitution exon 1 VAR_055261 P18577:p.Gly128Asp SP substitution exon 1 VAR_055262 P18577:p.Thr182Ser SP substitution exon 1 VAR_055263 P18577:p.Asn198Lys SP substitution exon 1 VAR_055264 P18577:p.His323Pro SP substitution exon 1 VAR_055265 P18577:p.Ile325Ser SP substitution exon 1 VAR_055266 P18577:p.His329Asp SP substitution exon 1 VAR_055267 P18577:p.His329Arg SP substitution exon 1 VAR_055268 P18577:p.Ser330Tyr SP substitution exon 1 VAR_055269 P18577:p.Ile331Asn SP substitution exon 1 VAR_055270 Q6ZNH5:p.His174Gln SP substitution exon 1 VAR_055271 Q86UE3:p.Gln201Arg SP substitution exon 1 VAR_055272 Q86UE3:p.Arg243Thr SP substitution exon 1 VAR_055273 Q86UE3:p.Ala253Val SP substitution exon 1 VAR_055274 Q86UE3:p.Val298Glu SP substitution exon 1 VAR_055275 Q86UE3:p.Glu427Gly SP substitution exon 1 VAR_055276 Q86UE3:p.Leu452Phe SP substitution exon 1 VAR_055277 Q86UE3:p.Leu652Phe SP substitution exon 1 VAR_055278 Q86VI3:p.Arg391Gly SP substitution exon 1 VAR_055279 Q86VI3:p.Val410Leu SP substitution exon 1 VAR_055280 Q86VI3:p.Asp645Asn SP substitution exon 1 VAR_055281 Q86VI3:p.Arg663Cys SP substitution exon 1 VAR_055282 Q86VI3:p.His770Tyr SP substitution exon 1 VAR_055283 Q86VI3:p.Gln1061His SP substitution exon 1 VAR_055284 Q86VI3:p.Pro1097Ser SP substitution exon 1 VAR_055285 Q86YI8:p.Lys20Glu SP substitution exon 1 VAR_055286 Q8IY82:p.Pro521His SP substitution exon 1 VAR_055287 Q8IYT8:p.Val370Met SP substitution exon 1 VAR_055288 Q8IYT8:p.Thr533Ile SP substitution exon 1 VAR_055289 Q8IZP9:p.His290Gln SP substitution exon 1 VAR_055290 Q8IZP9:p.Asn771Ser SP substitution exon 1 VAR_055291 Q8IZF2:p.Val801Ile SP substitution exon 1 VAR_055292 Q8IZW8:p.Thr327Lys SP substitution exon 1 VAR_055293 Q8N0Z6:p.Gln47Arg SP substitution exon 1 VAR_055294 Q8N5C8:p.Trp394Arg SP substitution exon 1 VAR_055295 Q8N6M9:p.His53Leu SP substitution exon 1 VAR_055296 Q8N7U6:p.Gly99Val SP substitution exon 1 VAR_055297 Q8N7U6:p.Pro269Ser SP substitution exon 1 VAR_055298 Q8N7U6:p.Arg826Trp SP substitution exon 1 VAR_055299 Q8N8A6:p.Arg41Gln SP substitution exon 1 VAR_055300 Q8N8A6:p.Glu134Val SP substitution exon 1 VAR_055301 Q8N8A6:p.Gln175Lys SP substitution exon 1 VAR_055302 Q8N8A6:p.Pro249Leu SP substitution exon 1 VAR_055303 Q8N8A6:p.Gln295Arg SP substitution exon 1 VAR_055304 Q8N8A6:p.Gln406Lys SP substitution exon 1 VAR_055305 Q8N8A6:p.Gln652Lys SP substitution exon 1 VAR_055306 Q8N9W5:p.Glu292Gly SP substitution exon 1 VAR_055307 Q8N9W5:p.Gly331Trp SP substitution exon 1 VAR_055311 Q9Y3R4:p.His168Asn SP substitution exon 1 VAR_055312 Q9Y3R4:p.Arg182Gln SP substitution exon 1 VAR_055313 Q9Y4G6:p.Val340Ala SP substitution exon 1 VAR_055314 Q9Y4G6:p.Val1877Ile SP substitution exon 1 VAR_055315 Q9Y4G6:p.Thr2144Ile SP substitution exon 1 VAR_055316 Q9Y4Z2:p.Phe199Ser SP substitution exon 1 VAR_055317 Q9Y6M7:p.Glu326Lys SP substitution exon 1 VAR_055318 Q9Y566:p.Ala6Val SP substitution exon 1 VAR_055319 Q9Y496:p.Lys172Ile SP substitution exon 1 VAR_055320 Q9Y4J8:p.Ala180Glu SP substitution exon 1 VAR_055321 Q9P2K1:p.Gln1096His SP substitution exon 1 VAR_055322 Q9P2K1:p.Pro1122Ser SP substitution exon 1 VAR_055323 Q9P2K1:p.Arg1528Cys SP substitution exon 1 VAR_055324 Q9P2K1:p.Leu1551Pro SP substitution exon 1 VAR_055325 P01568:p.Leu119Met SP substitution exon 1 VAR_055326 Q9BYT1:p.Asn228Ser SP substitution exon 1 VAR_055327 O95185:p.Ala841Thr SP substitution exon 1 VAR_055328 Q96RL1:p.Met353Thr SP substitution exon 1 VAR_055329 Q13111:p.Asp167Val SP substitution exon 1 VAR_055330 Q13111:p.Met239Val SP substitution exon 1 VAR_055331 Q13111:p.Lys850Arg SP substitution exon 1 VAR_055332 Q13111:p.Ala923Val SP substitution exon 1 VAR_055333 Q13111:p.Ser950Ala SP substitution exon 1 VAR_055334 O75526:p.Leu15Phe SP substitution exon 1 VAR_055335 O75526:p.Thr134Ala SP substitution exon 1 VAR_055336 O75526:p.Tyr308Cys SP substitution exon 1 VAR_055337 P00568:p.Gly40Arg SP substitution exon 1 VAR_055338 P00568:p.Gly64Arg SP substitution exon 1 VAR_055340 P00568:p.Tyr164Cys SP substitution exon 1 VAR_055341 Q96SF7:p.His156Asn SP substitution exon 1 VAR_055342 P27169:p.Arg160Gly SP substitution exon 1 VAR_055343 P09958:p.Trp547Arg SP substitution exon 1 VAR_055344 Q8WUS8:p.Ser10Thr SP substitution exon 1 VAR_055345 Q8WUS8:p.Lys96Glu SP substitution exon 1 VAR_055346 Q8WUS8:p.Gly320Asp SP substitution exon 1 VAR_055347 P02533:p.Cys63Tyr SP substitution exon 1 VAR_055348 Q01113:p.Gly331Arg SP substitution exon 1 VAR_055349 Q01113:p.Arg365His SP substitution exon 1 VAR_055350 O00507:p.Glu65Asp SP substitution exon 1 VAR_055351 O00507:p.Arg211Cys SP substitution exon 1 VAR_055352 O00507:p.Ala1705Ser SP substitution exon 1 VAR_055353 Q02040:p.Pro194Ser SP substitution exon 1 VAR_055354 Q8N5I4:p.Val247Leu SP substitution exon 1 VAR_055355 Q8N5I4:p.His292Arg SP substitution exon 1 VAR_055356 Q9Y5P8:p.Ala519Val SP substitution exon 1 VAR_055357 P21980:p.Arg214His SP substitution exon 1 VAR_055358 P21980:p.Gln324Arg SP substitution exon 1 VAR_055359 P21980:p.Arg436Trp SP substitution exon 1 VAR_055360 Q08188:p.Leu687Met SP substitution exon 1 VAR_055361 Q92851:p.Ser239Cys SP substitution exon 1 VAR_055362 Q92851:p.Pro444Ser SP substitution exon 1 VAR_055363 Q92698:p.Asp21Gly SP substitution exon 1 VAR_055364 Q92698:p.Ile74Met SP substitution exon 1 VAR_055365 Q92698:p.Arg202Cys SP substitution exon 1 VAR_055366 Q92698:p.Arg380Gln SP substitution exon 1 VAR_055367 Q92698:p.Arg534Cys SP substitution exon 1 VAR_055368 Q92698:p.Ile583Thr SP substitution exon 1 VAR_055369 P15863:p.Thr439Arg SP substitution exon 1 VAR_055370 P15863:p.Pro453Leu SP substitution exon 1 VAR_055372 Q9UBM1:p.Arg3Trp SP substitution exon 1 VAR_055373 Q9UBM1:p.Gly194Arg SP substitution exon 1 VAR_055374 P22735:p.Val372Ile SP substitution exon 1 VAR_055375 Q9NSA1:p.Gly141Ser SP substitution exon 1 VAR_055376 O60671:p.His39Gln SP substitution exon 1 VAR_055377 P13584:p.Ala111Val SP substitution exon 1 VAR_055378 P13584:p.Arg274Gln SP substitution exon 1 VAR_055379 Q6ZWL3:p.Glu275Lys SP substitution exon 1 VAR_055380 Q6ZWL3:p.Val372Ile SP substitution exon 1 VAR_055381 Q6ZWL3:p.Arg443Gln SP substitution exon 1 VAR_055382 P05181:p.Asn219Asp SP substitution exon 1 VAR_055384 P33527:p.Ala861Thr SP substitution exon 1 VAR_055385 P33527:p.Cys1047Ser SP substitution exon 1 VAR_055386 P33527:p.Val1146Ile SP substitution exon 1 VAR_055387 Q9UNK4:p.Gln65His SP substitution exon 1 VAR_055388 Q9UNK4:p.His73Arg SP substitution exon 1 VAR_055389 Q9UNK4:p.His96Arg SP substitution exon 1 VAR_055390 Q9UNK4:p.Arg121Cys SP substitution exon 1 VAR_055391 Q9UNK4:p.Arg121Leu SP substitution exon 1 VAR_055392 P34913:p.Gly21Ala SP substitution exon 1 VAR_055393 P34913:p.Arg52Gln SP substitution exon 1 VAR_055394 P34913:p.Cys154Tyr SP substitution exon 1 VAR_055395 P34913:p.Pro225Leu SP substitution exon 1 VAR_055396 P34913:p.Met369Val SP substitution exon 1 VAR_055397 P34913:p.Glu470Gly SP substitution exon 1 VAR_055399 Q8IYV9:p.Ala333Val SP substitution exon 1 VAR_055400 Q9H0F5:p.Ala206Thr SP substitution exon 1 VAR_055401 Q5SR56:p.Val406Leu SP substitution exon 1 VAR_055402 Q96BJ8:p.Lys13Gln SP substitution exon 1 VAR_055403 Q96BJ8:p.Asn95Asp SP substitution exon 1 VAR_055404 Q96BJ8:p.Arg316Cys SP substitution exon 1 VAR_055405 O75818:p.Val314Ile SP substitution exon 1 VAR_055406 Q96BI1:p.Ala6Thr SP substitution exon 1 VAR_055407 Q96BI1:p.Arg12Gln SP substitution exon 1 VAR_055408 Q96BI1:p.Trp324Cys SP substitution exon 1 VAR_055409 Q12769:p.Ala40Thr SP substitution exon 1 VAR_055410 Q12769:p.Thr351Ala SP substitution exon 1 VAR_055411 P42684:p.Arg78His SP substitution exon 1 VAR_055412 P42684:p.Glu99Gln SP substitution exon 1 VAR_055413 P42684:p.Arg519Ile SP substitution exon 1 VAR_055414 P42684:p.Thr769Ser SP substitution exon 1 VAR_055415 P35556:p.Thr2278Met SP substitution exon 1 VAR_055416 P35556:p.Met2311Val SP substitution exon 1 VAR_055417 P35556:p.Ser2580Leu SP substitution exon 1 VAR_055418 Q5T2D2:p.Val50Met SP substitution exon 1 VAR_055419 Q5T2D2:p.Ser144Gly SP substitution exon 1 VAR_055420 Q5T2D2:p.Val285Ile SP substitution exon 1 VAR_055421 Q14982:p.Pro95Arg SP substitution exon 1 VAR_055422 P31749:p.Glu17Lys SP substitution exon 1 VAR_055423 P08183:p.Asn44Ser SP substitution exon 1 VAR_055424 P08183:p.Ala80Glu SP substitution exon 1 VAR_055425 P08183:p.Ile261Val SP substitution exon 1 VAR_055426 P08183:p.Ala599Thr SP substitution exon 1 VAR_055427 P08183:p.Arg669Cys SP substitution exon 1 VAR_055428 P08183:p.Val801Met SP substitution exon 1 VAR_055429 P08183:p.Ile829Val SP substitution exon 1 VAR_055431 P12830:p.Ala634Val SP substitution exon 1 VAR_055432 P04626:p.Leu755Pro SP substitution exon 1 VAR_055435 P04626:p.Glu914Lys SP substitution exon 1 VAR_055438 P39019:p.Phe21Ser SP substitution exon 1 VAR_055439 P39019:p.Trp52Cys SP substitution exon 1 VAR_055440 P39019:p.Ala57Pro SP substitution exon 1 VAR_055441 P39019:p.Leu64Pro SP substitution exon 1 VAR_055442 P39019:p.Thr76Pro SP substitution exon 1 VAR_055444 P39019:p.Gly127Glu SP substitution exon 1 VAR_055445 P39019:p.Ala135Thr SP substitution exon 1 VAR_055447 P18077:p.Val33Ile SP substitution exon 1 VAR_055448 P62913:p.Leu20His SP substitution exon 1 VAR_055450 P46777:p.Gly140Ser SP substitution exon 1 VAR_055452 Q9NP94:p.Phe115Leu SP substitution exon 1 VAR_055453 P0CAP1:p.Ala277Val SP substitution exon 1 VAR_055454 O75874:p.Arg132Gly SP substitution exon 1 VAR_055455 O75874:p.Arg132His SP substitution exon 1 VAR_055456 O75874:p.Arg132Leu SP substitution exon 1 VAR_055457 O75874:p.Arg132Ser SP substitution exon 1 VAR_055458 P11586:p.Pro162Leu SP substitution exon 1 VAR_055459 Q6IE36:p.Thr211Met SP substitution exon 1 VAR_055460 Q6IE36:p.Leu587Val SP substitution exon 1 VAR_055461 Q6IE36:p.Ser789Leu SP substitution exon 1 VAR_055462 Q6IE36:p.Val1328Ala SP substitution exon 1 VAR_055463 A8K2U0:p.Gly207Arg SP substitution exon 1 VAR_055467 Q9ULI0:p.Ser118Pro SP substitution exon 1 VAR_055468 Q9NVI7:p.Ser101Asn SP substitution exon 1 VAR_055469 Q8WWZ4:p.Arg1322Trp SP substitution exon 1 VAR_055470 Q86UQ4:p.Thr1508Ile SP substitution exon 1 VAR_055471 O75027:p.Ala580Val SP substitution exon 1 VAR_055472 O95342:p.Ser56Leu SP substitution exon 1 VAR_055473 Q86UK0:p.Trp199Cys SP substitution exon 1 VAR_055474 Q86UK0:p.Asn237His SP substitution exon 1 VAR_055475 Q86UK0:p.Gln274Arg SP substitution exon 1 VAR_055476 Q86UK0:p.Arg287Gly SP substitution exon 1 VAR_055477 O95255:p.Val665Ala SP substitution exon 1 VAR_055478 Q8NC06:p.Pro118Leu SP substitution exon 1 VAR_055479 P49327:p.Val1483Ile SP substitution exon 1 VAR_055480 P49327:p.Arg1694His SP substitution exon 1 VAR_055481 P49327:p.Ile1888Val SP substitution exon 1 VAR_055482 P63261:p.Pro243Leu SP substitution exon 1 VAR_055483 Q9BYD9:p.Glu234Lys SP substitution exon 1 VAR_055484 Q9H0R1:p.Gly226Arg SP substitution exon 1 VAR_055485 Q9H0R1:p.Glu379Asp SP substitution exon 1 VAR_055486 Q9BV79:p.Arg227Lys SP substitution exon 1 VAR_055487 Q9BV79:p.Arg258Leu SP substitution exon 1 VAR_055488 O75969:p.Gly118Glu SP substitution exon 1 VAR_055489 O75969:p.Ile500Thr SP substitution exon 1 VAR_055490 O75969:p.Ile661Thr SP substitution exon 1 VAR_055491 O75969:p.Ser700Phe SP substitution exon 1 VAR_055492 O75969:p.Ser725Leu SP substitution exon 1 VAR_055493 Q9Y672:p.Lys226Asn SP substitution exon 1 VAR_055494 P00505:p.Ala2Ser SP substitution exon 1 VAR_055495 Q6NUN0:p.Arg65Gln SP substitution exon 1 VAR_055496 Q6NUN0:p.Glu182Lys SP substitution exon 1 VAR_055500 P09525:p.Thr85Met SP substitution exon 1 VAR_055501 P27216:p.Arg86His SP substitution exon 1 VAR_055502 P27216:p.Val108Ile SP substitution exon 1 VAR_055503 P27216:p.Val272Ile SP substitution exon 1 VAR_055506 Q9Y2G4:p.Ala550Thr SP substitution exon 1 VAR_055507 Q8IVF6:p.Glu130Lys SP substitution exon 1 VAR_055508 Q8IVF6:p.Ala277Glu SP substitution exon 1 VAR_055509 Q8IVF6:p.Asn484Ser SP substitution exon 1 VAR_055510 Q8IVF6:p.Tyr688Cys SP substitution exon 1 VAR_055513 Q9UPS8:p.Ile425Val SP substitution exon 1 VAR_055514 Q9UPS8:p.Val1219Leu SP substitution exon 1 VAR_055515 Q9BXX3:p.Arg985Cys SP substitution exon 1 VAR_055517 Q9P0K7:p.Ser45Asn SP substitution exon 1 VAR_055518 Q9P0K7:p.Val499Leu SP substitution exon 1 VAR_055519 Q9P0K7:p.Ala870Ser SP substitution exon 1 VAR_055520 Q13790:p.Ala178Gly SP substitution exon 1 VAR_055521 Q8N4G2:p.Asp83Asn SP substitution exon 1 VAR_055522 Q8N4G2:p.Pro117Thr SP substitution exon 1 VAR_055523 Q9NP61:p.Ser231Gly SP substitution exon 1 VAR_055524 Q9NP61:p.Ser370Gly SP substitution exon 1 VAR_055525 Q9NP61:p.Gln468His SP substitution exon 1 VAR_055526 Q9NP61:p.Ala482Thr SP substitution exon 1 VAR_055527 Q9NP61:p.Gln490Arg SP substitution exon 1 VAR_055528 Q9ULH1:p.Ile728Val SP substitution exon 1 VAR_055529 Q96P48:p.Arg358Gln SP substitution exon 1 VAR_055530 Q8WZ64:p.Lys384Asn SP substitution exon 1 VAR_055531 Q8WZ64:p.Phe1006Leu SP substitution exon 1 VAR_055533 Q7Z3Z4:p.Lys167Arg SP substitution exon 1 VAR_055534 Q7Z3C6:p.Gln659His SP substitution exon 1 VAR_055535 Q9UN42:p.Val48Ala SP substitution exon 1 VAR_055536 P48751:p.Ser226Leu SP substitution exon 1 VAR_055537 Q9HCS5:p.Val132Ile SP substitution exon 1 VAR_055538 Q9Y490:p.Ala1984Thr SP substitution exon 1 VAR_055539 Q16825:p.Lys906Asn SP substitution exon 1 VAR_055540 Q68DX3:p.Ala20Thr SP substitution exon 1 VAR_055541 Q68DX3:p.Lys534Glu SP substitution exon 1 VAR_055542 Q8IVE3:p.Met228Val SP substitution exon 1 VAR_055544 O60423:p.Gly45Arg SP substitution exon 1 VAR_055545 O60423:p.Val618Ile SP substitution exon 1 VAR_055546 Q8NB49:p.Tyr522Cys SP substitution exon 1 VAR_055547 Q9HC24:p.Ala2Val SP substitution exon 1 VAR_055548 Q9UIF9:p.Val498Glu SP substitution exon 1 VAR_055549 Q9UIF8:p.Met71Thr SP substitution exon 1 VAR_055550 Q9UIF8:p.Leu422Ser SP substitution exon 1 VAR_055551 Q9UIF8:p.Pro530Leu SP substitution exon 1 VAR_055552 Q9UIF8:p.Gly702Val SP substitution exon 1 VAR_055553 Q9UIF8:p.Ser2024Asn SP substitution exon 1 VAR_055554 Q09472:p.Met289Val SP substitution exon 1 VAR_055555 Q13342:p.Leu356Phe SP substitution exon 1 VAR_055556 Q13342:p.Met512Thr SP substitution exon 1 VAR_055557 Q13342:p.Glu516Lys SP substitution exon 1 VAR_055558 Q13342:p.Arg558Cys SP substitution exon 1 VAR_055559 Q9ULU4:p.Val752Ala SP substitution exon 1 VAR_055560 A6QL63:p.Gly448Ser SP substitution exon 1 VAR_055562 Q9Y4A8:p.Val441Glu SP substitution exon 1 VAR_055564 P24462:p.Val71Ala SP substitution exon 1 VAR_055565 P24557:p.Glu387Lys SP substitution exon 1 VAR_055567 Q12864:p.Lys115Glu SP substitution exon 1 VAR_055568 Q8IXH8:p.Ile144Thr SP substitution exon 1 VAR_055569 Q8IXH8:p.Arg301Gly SP substitution exon 1 VAR_055573 Q02413:p.Thr395Ser SP substitution exon 1 VAR_055574 Q02413:p.Tyr528Ser SP substitution exon 1 VAR_055575 Q02413:p.Asp538Asn SP substitution exon 1 VAR_055576 Q02413:p.Met665Ile SP substitution exon 1 VAR_055577 Q02413:p.Leu821Gln SP substitution exon 1 VAR_055578 P32926:p.Val509Met SP substitution exon 1 VAR_055579 Q08554:p.Val460Ile SP substitution exon 1 VAR_055580 Q08554:p.Cys848Phe SP substitution exon 1 VAR_055581 Q9UN66:p.Glu232Gly SP substitution exon 1 VAR_055582 Q9UN66:p.Ile382Thr SP substitution exon 1 VAR_055583 Q9UN66:p.Gln639His SP substitution exon 1 VAR_055584 Q9UN66:p.Leu661Val SP substitution exon 1 VAR_055585 Q9UN66:p.Ser745Asn SP substitution exon 1 VAR_055586 Q9UN66:p.Gly759Val SP substitution exon 1 VAR_055587 Q9NRJ7:p.Asp91Glu SP substitution exon 1 VAR_055588 Q9Y5H0:p.Pro79Ser SP substitution exon 1 VAR_055589 Q9Y5H0:p.Ile154Leu SP substitution exon 1 VAR_055590 Q14517:p.Ala131Val SP substitution exon 1 VAR_055591 Q14517:p.Asn1330Ser SP substitution exon 1 VAR_055592 Q14517:p.Ala1564Thr SP substitution exon 1 VAR_055593 Q14517:p.Asn1605Asp SP substitution exon 1 VAR_055594 Q14517:p.Pro3800His SP substitution exon 1 VAR_055595 Q9NYQ8:p.Gly201Ala SP substitution exon 1 VAR_055596 Q9NYQ8:p.Pro248Ser SP substitution exon 1 VAR_055597 Q9NYQ8:p.Arg574Cys SP substitution exon 1 VAR_055598 Q9NYQ8:p.Phe686Ser SP substitution exon 1 VAR_055599 Q9NYQ8:p.Arg992Gln SP substitution exon 1 VAR_055600 Q9NYQ8:p.Gly1004Ser SP substitution exon 1 VAR_055601 Q9NYQ8:p.Pro1164Leu SP substitution exon 1 VAR_055602 Q9NYQ8:p.Val1462Met SP substitution exon 1 VAR_055603 Q9NYQ8:p.Gly1515Ser SP substitution exon 1 VAR_055604 Q9NYQ8:p.Gly1571Ser SP substitution exon 1 VAR_055605 Q9NYQ8:p.Arg1895Trp SP substitution exon 1 VAR_055606 Q9NYQ8:p.Gly2054Ala SP substitution exon 1 VAR_055607 Q9NYQ8:p.Ala2907Thr SP substitution exon 1 VAR_055608 Q9NYQ8:p.Arg3318Gln SP substitution exon 1 VAR_055609 Q9NYQ8:p.Arg3318Trp SP substitution exon 1 VAR_055610 Q9NYQ8:p.Leu3514Ser SP substitution exon 1 VAR_055611 Q9NYQ8:p.Met3631Ile SP substitution exon 1 VAR_055612 Q9NYQ8:p.Ala3664Gly SP substitution exon 1 VAR_055613 Q9NYQ8:p.Gln3953His SP substitution exon 1 VAR_055614 Q9NYQ8:p.Pro4117Leu SP substitution exon 1 VAR_055615 Q9H4D0:p.Ile331Thr SP substitution exon 1 VAR_055616 Q9UHK6:p.Arg118Gln SP substitution exon 1 VAR_055617 Q9UHK6:p.Pro238Ser SP substitution exon 1 VAR_055618 Q9UHK6:p.Gln239His SP substitution exon 1 VAR_055619 Q9UHK6:p.Met261Ile SP substitution exon 1 VAR_055620 Q9UHK6:p.Met261Thr SP substitution exon 1 VAR_055621 P42575:p.Ala105Gly SP substitution exon 1 VAR_055622 Q03701:p.Asn639Ser SP substitution exon 1 VAR_055632 O95843:p.Val72Ile SP substitution exon 1 VAR_055633 O95843:p.Met85Val SP substitution exon 1 VAR_055634 O95843:p.Ala119Val SP substitution exon 1 VAR_055635 O95843:p.Met159Val SP substitution exon 1 VAR_055636 Q9UDT6:p.Asp961Glu SP substitution exon 1 VAR_055638 P49454:p.Asp1864Asn SP substitution exon 1 VAR_055641 Q01118:p.Met600Leu SP substitution exon 1 VAR_055642 Q01118:p.Ala1313Val SP substitution exon 1 VAR_055643 Q01118:p.Arg1516Lys SP substitution exon 1 VAR_055644 Q01118:p.Val1596Leu SP substitution exon 1 VAR_055645 Q01118:p.Asp1657Gly SP substitution exon 1 VAR_055647 Q8TDX6:p.Val137Ile SP substitution exon 1 VAR_055648 Q8TDX6:p.Phe473Tyr SP substitution exon 1 VAR_055649 Q9BUB4:p.Thr242Pro SP substitution exon 1 VAR_055650 Q8NCV1:p.Gly235Arg SP substitution exon 1 VAR_055652 O14646:p.Pro264Thr SP substitution exon 1 VAR_055653 P53675:p.Pro61Leu SP substitution exon 1 VAR_055654 P53675:p.Lys205Arg SP substitution exon 1 VAR_055655 P53675:p.Tyr279Cys SP substitution exon 1 VAR_055656 P53675:p.Glu691Lys SP substitution exon 1 VAR_055657 P53675:p.Lys941Arg SP substitution exon 1 VAR_055658 P53675:p.Arg945His SP substitution exon 1 VAR_055659 P53675:p.Arg1046Cys SP substitution exon 1 VAR_055661 Q5JU69:p.Lys203Glu SP substitution exon 1 VAR_055662 O60840:p.Ala1259Thr SP substitution exon 1 VAR_055664 Q9UP83:p.His452Arg SP substitution exon 1 VAR_055665 P02461:p.Gly534Glu SP substitution exon 1 VAR_055666 P02461:p.Ala679Thr SP substitution exon 1 VAR_055667 P02461:p.Pro686Ala SP substitution exon 1 VAR_055668 P20849:p.Glu684Lys SP substitution exon 1 VAR_055669 P20849:p.Met767Val SP substitution exon 1 VAR_055670 Q5TAT6:p.His531Gln SP substitution exon 1 VAR_055671 Q9P218:p.Pro134Leu SP substitution exon 1 VAR_055672 Q17RW2:p.Pro151Leu SP substitution exon 1 VAR_055673 Q17RW2:p.Ile293Thr SP substitution exon 1 VAR_055674 Q17RW2:p.Met481Leu SP substitution exon 1 VAR_055675 Q17RW2:p.Pro546Ser SP substitution exon 1 VAR_055676 Q17RW2:p.Pro731Ser SP substitution exon 1 VAR_055677 P08123:p.Leu344Val SP substitution exon 1 VAR_055678 P25940:p.Arg1042Pro SP substitution exon 1 VAR_055679 P25940:p.Ala1488Pro SP substitution exon 1 VAR_055680 P53420:p.Glu594Gly SP substitution exon 1 VAR_055681 P53420:p.Val670Ile SP substitution exon 1 VAR_055682 P53420:p.Pro759Leu SP substitution exon 1 VAR_055683 P08603:p.Asn997Thr SP substitution exon 1 VAR_055684 P08603:p.Ala1010Thr SP substitution exon 1 VAR_055685 P17927:p.Asn1540Ser SP substitution exon 1 VAR_055686 P17927:p.Thr1969Ala SP substitution exon 1 VAR_055687 Q9Y4K1:p.Gly267Asp SP substitution exon 1 VAR_055688 Q9Y4K1:p.Gln293Pro SP substitution exon 1 VAR_055689 Q9Y4K1:p.Cys491Arg SP substitution exon 1 VAR_055690 Q9Y4K1:p.Leu1096Val SP substitution exon 1 VAR_055691 Q9Y4K1:p.Glu1196Ala SP substitution exon 1 VAR_055692 Q9Y4K1:p.Cys1395Tyr SP substitution exon 1 VAR_055693 Q9Y4K1:p.Thr1445Ser SP substitution exon 1 VAR_055694 P19021:p.Val49Leu SP substitution exon 1 VAR_055695 Q96PD6:p.Ala13Thr SP substitution exon 1 VAR_055696 Q6ZV29:p.Gly286Ser SP substitution exon 1 VAR_055697 Q6ZV29:p.Asp1050Asn SP substitution exon 1 VAR_055698 Q6QHC5:p.Ala57Thr SP substitution exon 1 VAR_055699 P48448:p.Ser302Arg SP substitution exon 1 VAR_055700 Q8N7M0:p.Leu143Ile SP substitution exon 1 VAR_055701 Q16836:p.Gln152His SP substitution exon 1 VAR_055702 Q5VYK3:p.Thr472Ser SP substitution exon 1 VAR_055703 Q9NVH1:p.Thr290Ser SP substitution exon 1 VAR_055704 Q04637:p.Tyr311Cys SP substitution exon 1 VAR_055706 Q9BZG8:p.Lys226Arg SP substitution exon 1 VAR_055707 O75417:p.Pro1056Leu SP substitution exon 1 VAR_055708 Q96AY2:p.Lys5Asn SP substitution exon 1 VAR_055709 Q96AY2:p.Phe63Leu SP substitution exon 1 VAR_055710 Q96AY2:p.Val347Ile SP substitution exon 1 VAR_055711 Q16134:p.His94Arg SP substitution exon 1 VAR_055712 P57772:p.Ala435Val SP substitution exon 1 VAR_055714 O60494:p.Thr3432Ser SP substitution exon 1 VAR_055715 P80370:p.Gln73Leu SP substitution exon 1 VAR_055716 P80370:p.Val104Met SP substitution exon 1 VAR_055717 P80370:p.Ser260Asn SP substitution exon 1 VAR_055718 Q63HQ2:p.Arg26Pro SP substitution exon 1 VAR_055719 Q63HQ2:p.Val745Met SP substitution exon 1 VAR_055720 P23142:p.Cys509Ser SP substitution exon 1 VAR_055722 P98095:p.Gly1114Arg SP substitution exon 1 VAR_055736 Q75N90:p.Pro329Leu SP substitution exon 1 VAR_055737 Q75N90:p.Met371Ile SP substitution exon 1 VAR_055738 Q75N90:p.Val542Ile SP substitution exon 1 VAR_055739 Q75N90:p.Asp868Asn SP substitution exon 1 VAR_055740 Q75N90:p.Gln1209Arg SP substitution exon 1 VAR_055741 Q75N90:p.Ser1293Gly SP substitution exon 1 VAR_055742 Q75N90:p.Asn1431Ile SP substitution exon 1 VAR_055743 Q75N90:p.Glu1850Lys SP substitution exon 1 VAR_055744 Q75N90:p.Leu1904Phe SP substitution exon 1 VAR_055745 Q75N90:p.Thr1939Asn SP substitution exon 1 VAR_055746 Q75N90:p.His1966Asp SP substitution exon 1 VAR_055747 Q75N90:p.Asn2005Thr SP substitution exon 1 VAR_055748 Q75N90:p.Ser2314Asn SP substitution exon 1 VAR_055749 Q75N90:p.Arg2471His SP substitution exon 1 VAR_055750 Q75N90:p.His2540Gln SP substitution exon 1 VAR_055751 Q75N90:p.Val2594Ile SP substitution exon 1 VAR_055752 Q14767:p.Pro319Gln SP substitution exon 1 VAR_055753 O00339:p.Gly14Ala SP substitution exon 1 VAR_055754 O00339:p.Thr187Met SP substitution exon 1 VAR_055755 O00339:p.Ala599Thr SP substitution exon 1 VAR_055756 O00339:p.Thr855Met SP substitution exon 1 VAR_055757 O00339:p.Val932Ile SP substitution exon 1 VAR_055760 P14543:p.Arg31Leu SP substitution exon 1 VAR_055761 P14543:p.Arg302His SP substitution exon 1 VAR_055762 P14543:p.Arg335His SP substitution exon 1 VAR_055763 P14543:p.Arg387His SP substitution exon 1 VAR_055764 P14543:p.Lys970Glu SP substitution exon 1 VAR_055765 P14543:p.Leu1163Val SP substitution exon 1 VAR_055766 P14543:p.Thr1226Ile SP substitution exon 1 VAR_055767 Q14112:p.Asp313Gly SP substitution exon 1 VAR_055768 Q14112:p.Pro354His SP substitution exon 1 VAR_055769 Q14112:p.Pro529Ser SP substitution exon 1 VAR_055770 Q14112:p.Val726Met SP substitution exon 1 VAR_055771 Q14112:p.Arg775Gln SP substitution exon 1 VAR_055772 Q14112:p.Arg830Gln SP substitution exon 1 VAR_055773 Q14112:p.Arg866Gln SP substitution exon 1 VAR_055774 Q9NY15:p.Gly1127Arg SP substitution exon 1 VAR_055775 Q9NY15:p.Ile2282Val SP substitution exon 1 VAR_055778 P24821:p.Gly213Ser SP substitution exon 1 VAR_055779 P24821:p.Asp850His SP substitution exon 1 VAR_055780 Q92752:p.Ser302Asn SP substitution exon 1 VAR_055785 Q9Y493:p.Gly412Ser SP substitution exon 1 VAR_055786 Q9Y493:p.Ser690Thr SP substitution exon 1 VAR_055787 Q9Y493:p.Leu1012Arg SP substitution exon 1 VAR_055788 Q9Y493:p.Phe1096Cys SP substitution exon 1 VAR_055789 Q9Y493:p.Ala1375Thr SP substitution exon 1 VAR_055790 Q9Y493:p.Gly1674Cys SP substitution exon 1 VAR_055791 Q9Y493:p.Leu1698Pro SP substitution exon 1 VAR_055792 Q9Y493:p.Cys1742Arg SP substitution exon 1 VAR_055793 Q9Y493:p.Pro1878Ser SP substitution exon 1 VAR_055794 Q9Y493:p.Cys1903Tyr SP substitution exon 1 VAR_055795 Q15910:p.Asp185His SP substitution exon 1 VAR_055796 Q5XKR9:p.Ser60Gly SP substitution exon 1 VAR_055797 Q96ET8:p.Leu271Gln SP substitution exon 1 VAR_055798 Q8NEM7:p.Met154Val SP substitution exon 1 VAR_055799 Q8NEM7:p.Thr773Met SP substitution exon 1 VAR_055801 Q9UK96:p.His212Asn SP substitution exon 1 VAR_055803 Q86XS5:p.Ser175Pro SP substitution exon 1 VAR_055804 Q2V2M9:p.Arg475Trp SP substitution exon 1 VAR_055805 Q86T65:p.Arg105His SP substitution exon 1 VAR_055806 Q86T65:p.Arg617His SP substitution exon 1 VAR_055819 P0C091:p.Asp412Asn SP substitution exon 1 VAR_055822 Q9BTY2:p.Ala233Glu SP substitution exon 1 VAR_055823 Q13576:p.Val455Ala SP substitution exon 1 VAR_055824 Q13576:p.Pro479Arg SP substitution exon 1 VAR_055825 Q13576:p.Arg714Trp SP substitution exon 1 VAR_055826 Q13576:p.Thr894Ile SP substitution exon 1 VAR_055827 Q13576:p.Arg1052Ile SP substitution exon 1 VAR_055828 Q13576:p.Asn1184Ser SP substitution exon 1 VAR_055829 Q13576:p.Arg1379Trp SP substitution exon 1 VAR_055830 Q9BRR9:p.Arg50Gly SP substitution exon 1 VAR_055831 Q9BRR9:p.Arg137Cys SP substitution exon 1 VAR_055832 Q9BRR9:p.Ser370Ala SP substitution exon 1 VAR_055833 Q9P2N2:p.Ile168Val SP substitution exon 1 VAR_055835 P55317:p.Gly87Glu SP substitution exon 1 VAR_055836 Q14390:p.Asp75Asn SP substitution exon 1 VAR_055837 O94923:p.Met65Val SP substitution exon 1 VAR_055839 Q9UQ49:p.Arg15Gln SP substitution exon 1 VAR_055840 Q9Y2E5:p.Arg365Cys SP substitution exon 1 VAR_055841 Q9UKM7:p.Asn59Ser SP substitution exon 1 VAR_055844 P22083:p.Ile255Val SP substitution exon 1 VAR_055845 Q11128:p.Thr338Met SP substitution exon 1 VAR_055846 Q8NDV1:p.Leu223Ile SP substitution exon 1 VAR_055847 Q13330:p.Val372Ile SP substitution exon 1 VAR_055848 Q8N428:p.Val201Met SP substitution exon 1 VAR_055849 Q9NYU1:p.Ala821Thr SP substitution exon 1 VAR_055850 Q9NYU1:p.Phe924Ile SP substitution exon 1 VAR_055851 Q9NYU1:p.Phe1274Leu SP substitution exon 1 VAR_055852 Q96RT7:p.Leu104Pro SP substitution exon 1 VAR_055853 Q96RT7:p.Ile624Met SP substitution exon 1 VAR_055854 Q96RT7:p.Ala884Val SP substitution exon 1 VAR_055855 Q96RT7:p.Val1232Met SP substitution exon 1 VAR_055856 Q96RT7:p.Ser1364Cys SP substitution exon 1 VAR_055857 Q96RT7:p.Thr1377Ala SP substitution exon 1 VAR_055858 Q96RT7:p.Val1621Leu SP substitution exon 1 VAR_055859 Q8TBA6:p.Ala67Gly SP substitution exon 1 VAR_055860 Q8TBA6:p.Met486Val SP substitution exon 1 VAR_055861 Q15643:p.Met39Leu SP substitution exon 1 VAR_055862 Q15643:p.Glu506Ala SP substitution exon 1 VAR_055863 Q15643:p.Val795Leu SP substitution exon 1 VAR_055864 Q15643:p.Asp884Gly SP substitution exon 1 VAR_055865 Q15643:p.Ile1040Val SP substitution exon 1 VAR_055866 Q15643:p.Met1503Val SP substitution exon 1 VAR_055867 Q15643:p.Arg1576His SP substitution exon 1 VAR_055868 Q15643:p.Glu1749Ala SP substitution exon 1 VAR_055869 Q15643:p.Arg1752Lys SP substitution exon 1 VAR_055870 Q9BY27:p.Val115Leu SP substitution exon 1 VAR_055871 Q9BY27:p.Asn195Lys SP substitution exon 1 VAR_055875 Q13255:p.Ser593Pro SP substitution exon 1 VAR_055876 O15303:p.Glu227Val SP substitution exon 1 VAR_055877 O15303:p.Ile236Phe SP substitution exon 1 VAR_055878 O15303:p.Met712Val SP substitution exon 1 VAR_055879 O15303:p.Ala807Val SP substitution exon 1 VAR_055880 O15303:p.Thr817Ser SP substitution exon 1 VAR_055881 Q8TE85:p.Val160Ala SP substitution exon 1 VAR_055882 P09848:p.Ser190Leu SP substitution exon 1 VAR_055883 P09848:p.Val1593Met SP substitution exon 1 VAR_055884 P08236:p.Leu376Phe SP substitution exon 1 VAR_055885 P54840:p.Ala193Thr SP substitution exon 1 VAR_055886 P54840:p.Asp415Glu SP substitution exon 1 VAR_055887 P62807:p.Gly27Ser SP substitution exon 1 VAR_055892 Q8TDG4:p.Leu235Pro SP substitution exon 1 VAR_055893 Q8TDG4:p.Pro585Ser SP substitution exon 1 VAR_055894 Q8TDG4:p.Val1094Met SP substitution exon 1 VAR_055895 Q8IY21:p.Val672Met SP substitution exon 1 VAR_055896 Q8IY21:p.Ile998Val SP substitution exon 1 VAR_055897 Q5H9U9:p.Cys336Tyr SP substitution exon 1 VAR_055898 Q5H9U9:p.Asn355Lys SP substitution exon 1 VAR_055899 Q5H9U9:p.Val409Leu SP substitution exon 1 VAR_055900 Q5H9U9:p.Ala583Thr SP substitution exon 1 VAR_055902 Q2TAA5:p.Asn108Ser SP substitution exon 1 VAR_055903 Q9UQL6:p.Arg137Gln SP substitution exon 1 VAR_055904 Q9UQL6:p.Gly565Ala SP substitution exon 1 VAR_055905 Q9NR48:p.Ser1416Pro SP substitution exon 1 VAR_055908 P08913:p.Cys401Ser SP substitution exon 1 VAR_055909 P08588:p.Ala26Val SP substitution exon 1 VAR_055910 P08588:p.Ala29Thr SP substitution exon 1 VAR_055911 P08588:p.Arg31Gln SP substitution exon 1 VAR_055912 P08588:p.Arg399His SP substitution exon 1 VAR_055913 P08588:p.His405Tyr SP substitution exon 1 VAR_055914 P21917:p.Ala281Pro SP substitution exon 1 VAR_055915 P21462:p.Ile11Thr SP substitution exon 1 VAR_055916 P21462:p.Arg190Trp SP substitution exon 1 VAR_055917 Q99678:p.His230Arg SP substitution exon 1 VAR_055918 Q99678:p.Arg260Cys SP substitution exon 1 VAR_055919 Q99678:p.Gly313Ser SP substitution exon 1 VAR_055920 Q9BZJ7:p.Val313Leu SP substitution exon 1 VAR_055921 Q9BY21:p.Thr205Met SP substitution exon 1 VAR_055922 P22888:p.Asn291Ser SP substitution exon 1 VAR_055923 O14804:p.Thr272Met SP substitution exon 1 VAR_055924 O14804:p.Arg330Cys SP substitution exon 1 VAR_055925 P16473:p.Glu34Lys SP substitution exon 1 VAR_055926 Q9BY15:p.Ala236Val SP substitution exon 1 VAR_055927 Q86Y34:p.Ala430Thr SP substitution exon 1 VAR_055929 Q8IZF6:p.Ile276Met SP substitution exon 1 VAR_055930 Q8IZF3:p.Arg507Cys SP substitution exon 1 VAR_055931 Q86SQ6:p.Ala183Ser SP substitution exon 1 VAR_055932 Q86SQ6:p.Gln214Leu SP substitution exon 1 VAR_055933 Q8WXG9:p.Glu3868Ala SP substitution exon 1 VAR_055934 Q9HAR2:p.Arg465Gln SP substitution exon 1 VAR_055935 Q4G112:p.Ser473Asn SP substitution exon 1 VAR_055936 Q71RC2:p.Phe351Leu SP substitution exon 1 VAR_055937 Q71RC2:p.Asn502Thr SP substitution exon 1 VAR_055938 Q8IYK8:p.Gly96Ala SP substitution exon 1 VAR_055939 P46100:p.Gln545Glu SP substitution exon 1 VAR_055940 Q14154:p.Gly60Asp SP substitution exon 1 VAR_055941 Q5JR59:p.Pro955His SP substitution exon 1 VAR_055942 Q9Y4B5:p.Met602Thr SP substitution exon 1 VAR_055943 Q9Y2F5:p.Pro1618Leu SP substitution exon 1 VAR_055944 Q96P09:p.Ala156Thr SP substitution exon 1 VAR_055945 Q96P09:p.Leu165Ser SP substitution exon 1 VAR_055946 Q96P09:p.Ala225Thr SP substitution exon 1 VAR_055947 Q96P09:p.Ala225Val SP substitution exon 1 VAR_055948 Q9NQ33:p.Arg54Leu SP substitution exon 1 VAR_055949 Q68DE3:p.Ala907Glu SP substitution exon 1 VAR_055950 Q68DE3:p.Val943Gly SP substitution exon 1 VAR_055952 O15405:p.Val128Met SP substitution exon 1 VAR_055953 O15405:p.Gln572Pro SP substitution exon 1 VAR_055954 O60841:p.Ser337Gly SP substitution exon 1 VAR_055955 O60841:p.Arg360Gly SP substitution exon 1 VAR_055956 Q8IX15:p.Ala278Thr SP substitution exon 1 VAR_055957 P78415:p.Gln479His SP substitution exon 1 VAR_055959 P14653:p.Thr71Asn SP substitution exon 1 VAR_055960 P14653:p.Gln103His SP substitution exon 1 VAR_055961 P09017:p.Arg158Leu SP substitution exon 1 VAR_055962 P09017:p.Asn178Ser SP substitution exon 1 VAR_055963 Q14571:p.Ala453Val SP substitution exon 1 VAR_055964 Q14571:p.Glu1143Asp SP substitution exon 1 VAR_055965 Q14571:p.Ala1898Val SP substitution exon 1 VAR_055966 O95757:p.Ile601Thr SP substitution exon 1 VAR_055967 P26006:p.Ile268Phe SP substitution exon 1 VAR_055968 P26006:p.Ala719Thr SP substitution exon 1 VAR_055969 P26006:p.Gly840Ser SP substitution exon 1 VAR_055970 P06756:p.Ser548Ala SP substitution exon 1 VAR_055971 P16144:p.Thr1764Ser SP substitution exon 1 VAR_055973 Q86UX2:p.Asn421His SP substitution exon 1 VAR_055974 Q86UX2:p.Phe925Ser SP substitution exon 1 VAR_055975 Q96ST2:p.Ala390Val SP substitution exon 1 VAR_055976 Q96ST2:p.Val425Ile SP substitution exon 1 VAR_055977 Q9Y4C1:p.Ser447Pro SP substitution exon 1 VAR_055979 P51116:p.Arg591Pro SP substitution exon 1 VAR_055980 Q9Y2W6:p.Gly257Ala SP substitution exon 1 VAR_055981 Q00341:p.Val229Ile SP substitution exon 1 VAR_055983 Q9P2E2:p.Ile341Val SP substitution exon 1 VAR_055984 Q9P2E2:p.Val675Ile SP substitution exon 1 VAR_055985 Q9P2E2:p.Val735Ile SP substitution exon 1 VAR_055987 Q9UM73:p.Phe1376Ser SP substitution exon 1 VAR_055988 Q9UM73:p.Pro1599His SP substitution exon 1 VAR_055989 P29317:p.Lys99Asn SP substitution exon 1 VAR_055990 P29317:p.Met631Thr SP substitution exon 1 VAR_055991 Q9UF33:p.Ala710Val SP substitution exon 1 VAR_055992 Q5JZY3:p.Val103Leu SP substitution exon 1 VAR_055993 Q5JZY3:p.Leu629Pro SP substitution exon 1 VAR_055994 Q5JZY3:p.Val645Ile SP substitution exon 1 VAR_055995 Q5JZY3:p.Gly749Glu SP substitution exon 1 VAR_055996 Q5JZY3:p.Arg807Gln SP substitution exon 1 VAR_055998 P59827:p.Asp199Gly SP substitution exon 1 VAR_055999 P59827:p.Gly206Trp SP substitution exon 1 VAR_056000 P59827:p.Ile268Val SP substitution exon 1 VAR_056001 P59827:p.Asn320Thr SP substitution exon 1 VAR_056002 Q86VZ4:p.Thr281Met SP substitution exon 1 VAR_056003 Q86VZ4:p.Gly442Arg SP substitution exon 1 VAR_056004 Q6DKI2:p.Val126Met SP substitution exon 1 VAR_056005 O43837:p.Thr360Ala SP substitution exon 1 VAR_056006 Q7Z3Y9:p.Trp118Arg SP substitution exon 1 VAR_056007 Q7Z3Y8:p.Gly193Ser SP substitution exon 1 VAR_056008 Q7Z3Y8:p.Ala284Thr SP substitution exon 1 VAR_056009 Q7Z3Y7:p.Gly52Asp SP substitution exon 1 VAR_056010 Q7Z3Y7:p.Ala286Thr SP substitution exon 1 VAR_056011 Q14532:p.Gln72Arg SP substitution exon 1 VAR_056012 Q14532:p.Ile171Thr SP substitution exon 1 VAR_056013 Q14532:p.Ser222Tyr SP substitution exon 1 VAR_056014 Q14532:p.Thr339Met SP substitution exon 1 VAR_056015 Q14532:p.Thr395Met SP substitution exon 1 VAR_056016 Q14532:p.Arg428Cys SP substitution exon 1 VAR_056017 O76011:p.Ile280Thr SP substitution exon 1 VAR_056018 O76011:p.His348Arg SP substitution exon 1 VAR_056019 Q92764:p.Ser36Pro SP substitution exon 1 VAR_056020 Q92764:p.Cys441Tyr SP substitution exon 1 VAR_056021 Q92764:p.Pro443Ala SP substitution exon 1 VAR_056022 Q7Z794:p.Ala10Thr SP substitution exon 1 VAR_056023 P12035:p.Arg375Gly SP substitution exon 1 VAR_056027 Q7Z6A9:p.Ile124Val SP substitution exon 1 VAR_056028 P06731:p.Gln137Pro SP substitution exon 1 VAR_056029 P06731:p.Gly678Arg SP substitution exon 1 VAR_056030 Q6UY09:p.Ala41Val SP substitution exon 1 VAR_056031 Q6UY09:p.Arg113His SP substitution exon 1 VAR_056032 Q6UY09:p.Ile127Val SP substitution exon 1 VAR_056033 Q6UY09:p.Ser355Leu SP substitution exon 1 VAR_056034 Q6UY09:p.Ser369Phe SP substitution exon 1 VAR_056035 P15812:p.Gly15Glu SP substitution exon 1 VAR_056036 Q9BZW8:p.Asn89Asp SP substitution exon 1 VAR_056037 Q9BZW8:p.Ser323Phe SP substitution exon 1 VAR_056038 Q4KMG0:p.Lys66Arg SP substitution exon 1 VAR_056039 Q4KMG0:p.Glu162Lys SP substitution exon 1 VAR_056040 Q4KMG0:p.Pro351Ala SP substitution exon 1 VAR_056041 Q4KMG0:p.Ala686Val SP substitution exon 1 VAR_056042 Q9P232:p.Asn708Ser SP substitution exon 1 VAR_056043 P43146:p.Ile759Met SP substitution exon 1 VAR_056044 Q96RD9:p.Asn427Lys SP substitution exon 1 VAR_056045 Q96RD9:p.Gln457Arg SP substitution exon 1 VAR_056046 Q9UMF0:p.Val301Ile SP substitution exon 1 VAR_056047 Q9UMF0:p.Ala348Thr SP substitution exon 1 VAR_056048 Q5DX21:p.Ser388Asn SP substitution exon 1 VAR_056049 Q96ID5:p.Arg245His SP substitution exon 1 VAR_056051 Q8N149:p.Val331Gly SP substitution exon 1 VAR_056052 Q8N149:p.Gly361Ala SP substitution exon 1 VAR_056053 Q8N149:p.Arg381Cys SP substitution exon 1 VAR_056054 P59901:p.Pro27Leu SP substitution exon 1 VAR_056055 P59901:p.Ile155Val SP substitution exon 1 VAR_056057 Q9NR99:p.Val764Leu SP substitution exon 1 VAR_056058 Q9NR99:p.Thr1484Ala SP substitution exon 1 VAR_056059 Q9NR99:p.Pro1665Ser SP substitution exon 1 VAR_056060 Q14324:p.Asp282Asn SP substitution exon 1 VAR_056061 Q14324:p.Gly514Ser SP substitution exon 1 VAR_056062 Q9UKJ1:p.Ser279Leu SP substitution exon 1 VAR_056063 P11464:p.Glu41Gln SP substitution exon 1 VAR_056064 P11464:p.Thr43Pro SP substitution exon 1 VAR_056065 P11464:p.Glu47Lys SP substitution exon 1 VAR_056066 P11464:p.Thr63Ala SP substitution exon 1 VAR_056067 P11464:p.Arg73Lys SP substitution exon 1 VAR_056068 P11464:p.Glu87Gln SP substitution exon 1 VAR_056069 P11464:p.Ala101Val SP substitution exon 1 VAR_056070 P11464:p.Val134Glu SP substitution exon 1 VAR_056071 P11464:p.Glu197Lys SP substitution exon 1 VAR_056072 P11464:p.Thr198Asn SP substitution exon 1 VAR_056073 Q00888:p.Ser240Pro SP substitution exon 1 VAR_056074 Q00888:p.Val286Ala SP substitution exon 1 VAR_056075 Q13046:p.His65Tyr SP substitution exon 1 VAR_056076 Q9UQ72:p.Ala176Thr SP substitution exon 1 VAR_056077 Q5TFQ8:p.Arg23Gly SP substitution exon 1 VAR_056078 Q9H106:p.Asn55Asp SP substitution exon 1 VAR_056079 Q495A1:p.Ile33Val SP substitution exon 1 VAR_056080 Q96D42:p.Ser51Leu SP substitution exon 1 VAR_056090 Q9BX59:p.Thr334Met SP substitution exon 1 VAR_056092 Q8N743:p.Ala348Pro SP substitution exon 1 VAR_056098 Q6UWL6:p.Arg19Ser SP substitution exon 1 VAR_056099 Q6UWL6:p.Ala170Thr SP substitution exon 1 VAR_056100 Q6UWL6:p.Val353Met SP substitution exon 1 VAR_056101 Q6UWL6:p.Ser556Asn SP substitution exon 1 VAR_056102 Q5VST9:p.Ser4642Cys SP substitution exon 1 VAR_056103 Q5VST9:p.Arg4662Cys SP substitution exon 1 VAR_056104 Q5VST9:p.Gly4666Ser SP substitution exon 1 VAR_056105 Q5VST9:p.Asp4962Gly SP substitution exon 1 VAR_056106 Q5VST9:p.Leu5269Val SP substitution exon 1 VAR_056107 Q5VST9:p.Arg5575His SP substitution exon 1 VAR_056108 Q5VST9:p.Gln5891Glu SP substitution exon 1 VAR_056109 Q5VST9:p.Ala7172Val SP substitution exon 1 VAR_056111 Q32MZ4:p.Lys633Glu SP substitution exon 1 VAR_056112 Q9NPR9:p.Leu79Pro SP substitution exon 1 VAR_056113 P05019:p.Ala115Thr SP substitution exon 1 VAR_056115 O75970:p.Ser92Leu SP substitution exon 1 VAR_056116 O75970:p.Leu351Phe SP substitution exon 1 VAR_056117 O75970:p.Glu702Lys SP substitution exon 1 VAR_056118 O75970:p.Glu702Val SP substitution exon 1 VAR_056119 O75970:p.Thr1604Ala SP substitution exon 1 VAR_056120 O75970:p.Gly1663Arg SP substitution exon 1 VAR_056122 P78559:p.Ile2461Thr SP substitution exon 1 VAR_056123 P46821:p.Ser1917Arg SP substitution exon 1 VAR_056124 Q8NAB2:p.Met189Val SP substitution exon 1 VAR_056125 Q8WZ60:p.Ile518Val SP substitution exon 1 VAR_056126 Q5VTJ3:p.Val21Leu SP substitution exon 1 VAR_056127 Q5VTJ3:p.Arg194Pro SP substitution exon 1 VAR_056128 Q9BYT1:p.Thr397Met SP substitution exon 1 VAR_056132 P25391:p.Leu349Ser SP substitution exon 1 VAR_056133 P25391:p.Val559Ile SP substitution exon 1 VAR_056134 P25391:p.Ser1577Ala SP substitution exon 1 VAR_056135 P25391:p.Leu1591Val SP substitution exon 1 VAR_056136 P25391:p.Lys1632Glu SP substitution exon 1 VAR_056137 P25391:p.Asp1682Val SP substitution exon 1 VAR_056138 P25391:p.Ile2076Thr SP substitution exon 1 VAR_056140 Q16363:p.Gly94Ser SP substitution exon 1 VAR_056141 Q16363:p.Arg154Trp SP substitution exon 1 VAR_056142 Q16363:p.Leu492His SP substitution exon 1 VAR_056143 Q16363:p.Asn1549Ser SP substitution exon 1 VAR_056144 Q16363:p.Val1815Ile SP substitution exon 1 VAR_056145 Q9Y6N6:p.Pro522Ser SP substitution exon 1 VAR_056146 Q9Y6N6:p.Glu544Gly SP substitution exon 1 VAR_056147 Q9Y6N6:p.Arg770Gly SP substitution exon 1 VAR_056148 Q9Y6N6:p.Ser1082Gly SP substitution exon 1 VAR_056149 Q9Y6N6:p.Arg1264Trp SP substitution exon 1 VAR_056150 Q99547:p.Ile58Val SP substitution exon 1 VAR_056151 Q9UJ71:p.Gln136Glu SP substitution exon 1 VAR_056156 O60449:p.Trp20Arg SP substitution exon 1 VAR_056157 O60449:p.Val666Ala SP substitution exon 1 VAR_056158 O60449:p.Thr1393Ile SP substitution exon 1 VAR_056159 Q8N3J2:p.Glu230Asp SP substitution exon 1 VAR_056160 Q5TD97:p.Arg35His SP substitution exon 1 VAR_056161 Q5TD97:p.Arg204Gly SP substitution exon 1 VAR_056162 Q5TD97:p.Ser243Arg SP substitution exon 1 VAR_056164 Q96MT3:p.Pro746Ser SP substitution exon 1 VAR_056166 P02763:p.Arg167Cys SP substitution exon 1 VAR_056167 Q8WX39:p.His65Tyr SP substitution exon 1 VAR_056168 Q8WX39:p.Cys90Phe SP substitution exon 1 VAR_056169 Q3T8J9:p.Leu150Phe SP substitution exon 1 VAR_056170 Q3T8J9:p.Thr416Ala SP substitution exon 1 VAR_056171 Q3T8J9:p.Ser1197Pro SP substitution exon 1 VAR_056172 Q3T8J9:p.Gln1539Glu SP substitution exon 1 VAR_056173 P11055:p.Ala1003Val SP substitution exon 1 VAR_056174 P11055:p.Thr1313Ile SP substitution exon 1 VAR_056175 Q9Y623:p.Arg1862Cys SP substitution exon 1 VAR_056176 Q7Z406:p.Pro334Ala SP substitution exon 1 VAR_056177 Q7Z406:p.Ala1209Glu SP substitution exon 1 VAR_056178 Q7Z406:p.Val1540Ile SP substitution exon 1 VAR_056179 O00160:p.Pro960Leu SP substitution exon 1 VAR_056180 Q9Y4I1:p.Met627Thr SP substitution exon 1 VAR_056181 Q9Y4I1:p.Ser1673Leu SP substitution exon 1 VAR_056182 Q9ULV0:p.Cys10Gly SP substitution exon 1 VAR_056183 Q9ULV0:p.Lys307Asn SP substitution exon 1 VAR_056184 Q9ULV0:p.Arg918His SP substitution exon 1 VAR_056185 Q9ULV0:p.Lys942Arg SP substitution exon 1 VAR_056186 Q9NQX4:p.Pro1396Leu SP substitution exon 1 VAR_056187 Q13402:p.Glu602Lys SP substitution exon 1 VAR_056188 Q13402:p.Val679Ile SP substitution exon 1 VAR_056189 B2RTY4:p.Ala825Val SP substitution exon 1 VAR_056190 Q8IUG5:p.Gly44Glu SP substitution exon 1 VAR_056191 Q8IUG5:p.Pro177Leu SP substitution exon 1 VAR_056192 Q8IUG5:p.Trp547Cys SP substitution exon 1 VAR_056193 Q8IUG5:p.Ser925Leu SP substitution exon 1 VAR_056194 Q8IUG5:p.Trp1037Ser SP substitution exon 1 VAR_056195 Q8IUG5:p.His1119Gln SP substitution exon 1 VAR_056196 Q8IUG5:p.Ser1390Phe SP substitution exon 1 VAR_056197 Q8IUG5:p.Ile1399Val SP substitution exon 1 VAR_056198 Q8IUG5:p.Ser1444Thr SP substitution exon 1 VAR_056203 Q8TDC0:p.Thr209Asn SP substitution exon 1 VAR_056204 Q6IA69:p.Pro297Leu SP substitution exon 1 VAR_056205 Q6IA69:p.Met591Ile SP substitution exon 1 VAR_056206 Q6IA69:p.Gly704Ser SP substitution exon 1 VAR_056207 Q92900:p.Ala69Ser SP substitution exon 1 VAR_056208 Q7Z333:p.Lys1221Asn SP substitution exon 1 VAR_056209 Q6AI14:p.Gly116Ser SP substitution exon 1 VAR_056210 Q6AI14:p.Ile581Val SP substitution exon 1 VAR_056211 Q8NF91:p.Gln655Arg SP substitution exon 1 VAR_056212 Q8NF91:p.Leu885Val SP substitution exon 1 VAR_056213 Q8NF91:p.Val1035Ala SP substitution exon 1 VAR_056214 Q8NF91:p.Ser2030Gly SP substitution exon 1 VAR_056215 Q8NF91:p.Ala2795Val SP substitution exon 1 VAR_056216 Q8NF91:p.Lys3874Thr SP substitution exon 1 VAR_056217 Q8NF91:p.Ser3954Thr SP substitution exon 1 VAR_056218 Q8NF91:p.Glu4060Asp SP substitution exon 1 VAR_056219 Q8NF91:p.Lys4121Asn SP substitution exon 1 VAR_056220 Q8NF91:p.Lys4121Arg SP substitution exon 1 VAR_056221 Q8NF91:p.Glu4203Lys SP substitution exon 1 VAR_056222 Q8NF91:p.Val4546Ile SP substitution exon 1 VAR_056223 Q8NF91:p.Ser4596Thr SP substitution exon 1 VAR_056224 Q8NF91:p.Leu4944Met SP substitution exon 1 VAR_056225 Q8NF91:p.Leu5015Met SP substitution exon 1 VAR_056226 Q8NF91:p.Met5377Leu SP substitution exon 1 VAR_056227 Q8NF91:p.Thr5426Met SP substitution exon 1 VAR_056228 Q8NF91:p.Met6566Ile SP substitution exon 1 VAR_056229 Q8NF91:p.Thr6664Ile SP substitution exon 1 VAR_056230 Q8NF91:p.Gln6951His SP substitution exon 1 VAR_056231 Q8NF91:p.Phe7302Val SP substitution exon 1 VAR_056232 Q8NF91:p.Ser7506Gly SP substitution exon 1 VAR_056233 Q8NF91:p.Asn8161His SP substitution exon 1 VAR_056234 Q8NF91:p.Ala8168Ser SP substitution exon 1 VAR_056235 Q8NF91:p.Thr8687Ile SP substitution exon 1 VAR_056236 Q8NF91:p.Leu8741Met SP substitution exon 1 VAR_056237 Q8TET4:p.Ile166Val SP substitution exon 1 VAR_056238 P43251:p.Pro391Ser SP substitution exon 1 VAR_056239 Q9UNK9:p.Gly141Trp SP substitution exon 1 VAR_056240 Q9UNK9:p.Phe515Cys SP substitution exon 1 VAR_056241 Q96RS0:p.Pro299Ser SP substitution exon 1 VAR_056242 Q96RS0:p.Thr595Ala SP substitution exon 1 VAR_056243 Q9P272:p.Pro219Thr SP substitution exon 1 VAR_056244 Q9P272:p.Ile265Thr SP substitution exon 1 VAR_056245 Q9P272:p.His337Leu SP substitution exon 1 VAR_056575 Q9UJX0:p.Glu439Asp SP substitution exon 1 VAR_056578 Q14515:p.Thr419Ala SP substitution exon 1 VAR_056579 P21815:p.Thr256Ala SP substitution exon 1 VAR_056580 P21815:p.Ala268Val SP substitution exon 1 VAR_056581 Q9NZ20:p.His307Tyr SP substitution exon 1 VAR_056582 Q02817:p.Leu58Pro SP substitution exon 1 VAR_056583 Q02817:p.Val116Met SP substitution exon 1 VAR_056584 Q02817:p.Gly832Ser SP substitution exon 1 VAR_056588 Q9HC84:p.Arg51Trp SP substitution exon 1 VAR_056589 Q9H3R2:p.Ala18Val SP substitution exon 1 VAR_056590 Q9H3R2:p.Ser363Gly SP substitution exon 1 VAR_056591 Q9H3R2:p.Arg502Ser SP substitution exon 1 VAR_056642 Q8TEW8:p.Lys317Arg SP substitution exon 1 VAR_056643 Q9Y6F1:p.Ser91Asn SP substitution exon 1 VAR_056644 Q9Y6F1:p.Gln269Arg SP substitution exon 1 VAR_056645 Q9UKK3:p.Ile81Val SP substitution exon 1 VAR_056646 Q9UKK3:p.Ser122Asn SP substitution exon 1 VAR_056647 Q9UKK3:p.Phe215Tyr SP substitution exon 1 VAR_056648 Q9UKK3:p.Pro792Leu SP substitution exon 1 VAR_056649 Q9UKK3:p.Ser873Asn SP substitution exon 1 VAR_056650 Q9UKK3:p.Ala899Thr SP substitution exon 1 VAR_056651 Q9UKK3:p.Lys991Arg SP substitution exon 1 VAR_056654 Q8IXQ6:p.Ser21Leu SP substitution exon 1 VAR_056655 Q8IXQ6:p.Ile517Val SP substitution exon 1 VAR_056656 Q8IXQ6:p.Tyr528Cys SP substitution exon 1 VAR_056657 Q8IXQ6:p.Thr651Ala SP substitution exon 1 VAR_056658 Q460N3:p.Ala499Thr SP substitution exon 1 VAR_056661 Q13946:p.Gly76Glu SP substitution exon 1 VAR_056663 P23219:p.Lys185Thr SP substitution exon 1 VAR_056664 P23219:p.Lys341Arg SP substitution exon 1 VAR_056665 Q6PCE3:p.Asn608Ile SP substitution exon 1 VAR_056666 P08567:p.Lys108Gln SP substitution exon 1 VAR_056667 Q9H4M7:p.Ile37Val SP substitution exon 1 VAR_056668 Q9H4M7:p.Arg597Gln SP substitution exon 1 VAR_056669 Q9H4M7:p.Thr714Ala SP substitution exon 1 VAR_056670 Q9H4M7:p.Gly742Val SP substitution exon 1 VAR_056671 Q6NSJ2:p.Gln239Arg SP substitution exon 1 VAR_056672 Q96PX9:p.Ala72Thr SP substitution exon 1 VAR_056673 Q96PX9:p.Gly149Ser SP substitution exon 1 VAR_056674 Q96PX9:p.Arg220His SP substitution exon 1 VAR_056675 Q96PX9:p.Ala660Val SP substitution exon 1 VAR_056676 O75747:p.Pro146Leu SP substitution exon 1 VAR_056677 O75747:p.Ala261Glu SP substitution exon 1 VAR_056678 Q13315:p.Arg45Trp SP substitution exon 1 VAR_056679 Q13315:p.Thr761Ser SP substitution exon 1 VAR_056680 Q13315:p.Ser788Arg SP substitution exon 1 VAR_056681 Q13315:p.Asp814Glu SP substitution exon 1 VAR_056682 Q13315:p.Thr935Met SP substitution exon 1 VAR_056683 Q13315:p.Leu942Phe SP substitution exon 1 VAR_056684 Q13315:p.Glu1313Gln SP substitution exon 1 VAR_056685 Q13315:p.Ala1427Thr SP substitution exon 1 VAR_056686 Q13315:p.Leu1541Phe SP substitution exon 1 VAR_056693 O75928:p.Val207Ala SP substitution exon 1 VAR_056694 Q15147:p.Ala21Thr SP substitution exon 1 VAR_056695 Q15147:p.Gly710Ser SP substitution exon 1 VAR_056696 P98161:p.Leu950Pro SP substitution exon 1 VAR_056697 P98161:p.Met1092Thr SP substitution exon 1 VAR_056698 P98161:p.Leu1114Arg SP substitution exon 1 VAR_056699 P98161:p.Arg1557Pro SP substitution exon 1 VAR_056700 P98161:p.Thr1734Lys SP substitution exon 1 VAR_056701 P98161:p.Arg2515Gln SP substitution exon 1 VAR_056702 P98161:p.Ser2534Gly SP substitution exon 1 VAR_056703 P98161:p.Gln3005Glu SP substitution exon 1 VAR_056704 P98161:p.Met3023Val SP substitution exon 1 VAR_056705 Q7Z442:p.Thr1048Ala SP substitution exon 1 VAR_056706 Q7Z442:p.Gly1081Val SP substitution exon 1 VAR_056707 Q7Z442:p.Gly1251Trp SP substitution exon 1 VAR_056708 Q7Z442:p.Ser1326Pro SP substitution exon 1 VAR_056709 Q7Z442:p.Ala1335Asp SP substitution exon 1 VAR_056710 Q7Z442:p.Thr1406Met SP substitution exon 1 VAR_056711 Q7Z442:p.Ala1527Val SP substitution exon 1 VAR_056712 Q7Z442:p.Gln1616Arg SP substitution exon 1 VAR_056713 Q7Z442:p.Met1645Val SP substitution exon 1 VAR_056714 Q7Z442:p.Ser1665Tyr SP substitution exon 1 VAR_056715 Q7Z442:p.Gln1701His SP substitution exon 1 VAR_056716 Q7Z442:p.Gly1848Arg SP substitution exon 1 VAR_056717 Q7Z442:p.Met1867Val SP substitution exon 1 VAR_056718 Q7Z442:p.Gln2036Arg SP substitution exon 1 VAR_056719 Q7Z442:p.Pro2046Leu SP substitution exon 1 VAR_056720 Q7Z442:p.Ala2055Thr SP substitution exon 1 VAR_056722 O75051:p.Arg5Gln SP substitution exon 1 VAR_056723 Q9Y4D7:p.Pro617Ser SP substitution exon 1 VAR_056724 Q9Y4D7:p.Leu1412Val SP substitution exon 1 VAR_056725 O60346:p.Ser1118Thr SP substitution exon 1 VAR_056726 Q9Y2D8:p.Cys578Arg SP substitution exon 1 VAR_056727 Q9NQ60:p.Ile110Thr SP substitution exon 1 VAR_056728 Q6ULP2:p.Asp233Gly SP substitution exon 1 VAR_056729 Q6ULP2:p.Glu301Lys SP substitution exon 1 VAR_056730 Q6ULP2:p.Asn550Ser SP substitution exon 1 VAR_056731 Q02952:p.Ala987Ser SP substitution exon 1 VAR_056732 P24588:p.Pro100Leu SP substitution exon 1 VAR_056733 P24588:p.Glu314Lys SP substitution exon 1 VAR_056734 Q8TCU4:p.Gly1412Ala SP substitution exon 1 VAR_056739 Q7Z3E5:p.Ile180Val SP substitution exon 1 VAR_056740 Q9UPN4:p.Val43Ile SP substitution exon 1 VAR_056743 A6H8Y1:p.Asn26Ser SP substitution exon 1 VAR_056744 A6H8Y1:p.Ala125Val SP substitution exon 1 VAR_056745 A6H8Y1:p.Lys722Glu SP substitution exon 1 VAR_056746 A6H8Y1:p.Gly1180Ser SP substitution exon 1 VAR_056747 A6H8Y1:p.Phe1244Ile SP substitution exon 1 VAR_056748 A6H8Y1:p.Gln1676Glu SP substitution exon 1 VAR_056749 A6H8Y1:p.Asn2555Ser SP substitution exon 1 VAR_056750 Q8IZY5:p.Ala76Asp SP substitution exon 1 VAR_056751 P51587:p.Lys513Arg SP substitution exon 1 VAR_056752 P51587:p.Ile982Leu SP substitution exon 1 VAR_056753 P51587:p.Val1542Met SP substitution exon 1 VAR_056754 P51587:p.Val1643Ala SP substitution exon 1 VAR_056755 P51587:p.Ser1979Arg SP substitution exon 1 VAR_056756 P51587:p.Asp2238Glu SP substitution exon 1 VAR_056757 P51587:p.Arg2336Gln SP substitution exon 1 VAR_056758 P51587:p.Asn2447Asp SP substitution exon 1 VAR_056759 P51587:p.Leu2686Pro SP substitution exon 1 VAR_056760 P51587:p.Leu2792Pro SP substitution exon 1 VAR_056761 P51587:p.Leu3101Arg SP substitution exon 1 VAR_056762 Q6PJW8:p.Gln183Arg SP substitution exon 1 VAR_056764 Q5TID7:p.Phe238Ile SP substitution exon 1 VAR_056765 Q5TID7:p.Ser323Cys SP substitution exon 1 VAR_056766 Q8N9H9:p.Arg256Gln SP substitution exon 1 VAR_056767 Q8N9H9:p.Val366Asp SP substitution exon 1 VAR_056769 Q9BV87:p.Arg344Thr SP substitution exon 1 VAR_056770 Q8ND61:p.Gln205Arg SP substitution exon 1 VAR_056771 Q8ND61:p.Ala689Val SP substitution exon 1 VAR_056772 Q6ZVT6:p.Ser158Arg SP substitution exon 1 VAR_056773 Q6ZVT6:p.Asp304Glu SP substitution exon 1 VAR_056774 Q8IYK2:p.Val245Met SP substitution exon 1 VAR_056775 Q8IYK2:p.Met248Thr SP substitution exon 1 VAR_056776 Q9BUN5:p.Arg25Trp SP substitution exon 1 VAR_056777 Q2M243:p.Pro390Leu SP substitution exon 1 VAR_056778 Q502W7:p.Val36Phe SP substitution exon 1 VAR_056779 Q502W7:p.Met227Val SP substitution exon 1 VAR_056780 Q8IXS2:p.His133Arg SP substitution exon 1 VAR_056781 Q8IXS2:p.Tyr408Cys SP substitution exon 1 VAR_056782 Q9NVE4:p.Ala156Thr SP substitution exon 1 VAR_056784 Q96KX1:p.Ser18Asn SP substitution exon 1 VAR_056785 Q8IWY9:p.Gln596Arg SP substitution exon 1 VAR_056786 Q8IWY9:p.Arg891Cys SP substitution exon 1 VAR_056787 Q6UWT4:p.Phe18Ile SP substitution exon 1 VAR_056788 O43303:p.Arg69Ser SP substitution exon 1 VAR_056789 O43303:p.Pro171Leu SP substitution exon 1 VAR_056790 O43303:p.Phe347Ile SP substitution exon 1 VAR_056791 Q53EZ4:p.Cys236Arg SP substitution exon 1 VAR_056792 Q86T20:p.Met141Ile SP substitution exon 1 VAR_056799 Q5T0Z8:p.Lys4Asn SP substitution exon 1 VAR_056800 Q5VWP3:p.Pro376Ser SP substitution exon 1 VAR_056801 Q8IXS0:p.Ala258Thr SP substitution exon 1 VAR_056802 Q8IXS0:p.Gln309Pro SP substitution exon 1 VAR_056803 Q8IXS0:p.Cys360Ser SP substitution exon 1 VAR_056804 Q8IXS0:p.Met442Val SP substitution exon 1 VAR_056805 Q7Z4U5:p.Arg20Pro SP substitution exon 1 VAR_056806 Q7Z4U5:p.Asp25Tyr SP substitution exon 1 VAR_056808 P0C671:p.Leu582Val SP substitution exon 1 VAR_056809 Q8N865:p.Glu13Lys SP substitution exon 1 VAR_056810 Q8N865:p.Arg86Cys SP substitution exon 1 VAR_056811 Q8N865:p.Pro238Gln SP substitution exon 1 VAR_056812 Q8N865:p.Ala249Thr SP substitution exon 1 VAR_056813 Q8NEG2:p.Ala74Ser SP substitution exon 1 VAR_056814 Q68CJ6:p.Arg492Trp SP substitution exon 1 VAR_056817 Q96E40:p.Val104Ile SP substitution exon 1 VAR_056818 Q9H8G2:p.Val233Met SP substitution exon 1 VAR_056819 Q96GE9:p.Pro28Thr SP substitution exon 1 VAR_056820 Q9ULV3:p.Ala219Thr SP substitution exon 1 VAR_056827 Q9NQ32:p.Pro144Leu SP substitution exon 1 VAR_056828 Q9NQ32:p.Val210Leu SP substitution exon 1 VAR_056829 Q96M86:p.Gln279Pro SP substitution exon 1 VAR_056830 Q96M86:p.Phe403Leu SP substitution exon 1 VAR_056831 Q96SN8:p.Ala183Pro SP substitution exon 1 VAR_056833 Q8N5I9:p.Gly5Ser SP substitution exon 1 VAR_056834 Q96N23:p.Pro11Ser SP substitution exon 1 VAR_056835 Q96N23:p.Thr558Ala SP substitution exon 1 VAR_056836 Q96N23:p.Leu562Phe SP substitution exon 1 VAR_056837 A8MTZ7:p.Ile140Val SP substitution exon 1 VAR_056838 Q9NWQ4:p.Val132Glu SP substitution exon 1 VAR_056839 Q96FT9:p.Arg85His SP substitution exon 1 VAR_056840 Q9NXG0:p.Thr284Ala SP substitution exon 1 VAR_056841 Q9NXG0:p.Glu291Asp SP substitution exon 1 VAR_056842 P81408:p.Arg646His SP substitution exon 1 VAR_056843 O95177:p.Val72Ile SP substitution exon 1 VAR_056844 Q96ND0:p.Tyr39Asn SP substitution exon 1 VAR_056845 Q2NL68:p.Ser302Arg SP substitution exon 1 VAR_056847 Q9NUD7:p.Ile305Phe SP substitution exon 1 VAR_056849 Q8NC74:p.Asp348Asn SP substitution exon 1 VAR_056850 Q8NC74:p.Ala408Thr SP substitution exon 1 VAR_056851 Q8NC74:p.Glu607Lys SP substitution exon 1 VAR_056852 Q8NC74:p.Leu637Arg SP substitution exon 1 VAR_056853 Q96M20:p.Arg37His SP substitution exon 1 VAR_056854 Q96M20:p.Thr208Ala SP substitution exon 1 VAR_056855 Q96M20:p.Pro375Ser SP substitution exon 1 VAR_056856 Q6ZTR5:p.Val236Met SP substitution exon 1 VAR_056857 O75553:p.Val71Ile SP substitution exon 1 VAR_056858 Q5VWQ8:p.Ser59Phe SP substitution exon 1 VAR_056859 Q5T197:p.Thr158Ile SP substitution exon 1 VAR_056860 Q9Y238:p.Leu79Arg SP substitution exon 1 VAR_056861 Q9Y238:p.Ser192Phe SP substitution exon 1 VAR_056862 Q9Y238:p.Lys1022Asn SP substitution exon 1 VAR_056863 Q9Y238:p.Asn1150Asp SP substitution exon 1 VAR_056864 Q9Y238:p.Leu1227Pro SP substitution exon 1 VAR_056865 Q6E0U4:p.Glu69Asp SP substitution exon 1 VAR_056866 Q6E0U4:p.Asn139Ser SP substitution exon 1 VAR_056867 Q7L9B9:p.Ala358Ser SP substitution exon 1 VAR_056868 Q7L9B9:p.Pro416Ser SP substitution exon 1 VAR_056870 Q8TE68:p.Gln457Glu SP substitution exon 1 VAR_056871 P34910:p.Gly53Arg SP substitution exon 1 VAR_056872 Q70Z53:p.Ser251Phe SP substitution exon 1 VAR_056873 Q9BSJ6:p.Ser199Cys SP substitution exon 1 VAR_056874 Q5H9T9:p.Pro119Ser SP substitution exon 1 VAR_056875 Q5H9T9:p.His195Gln SP substitution exon 1 VAR_056876 Q5H9T9:p.Leu380Pro SP substitution exon 1 VAR_056877 Q5H9T9:p.Pro409Ser SP substitution exon 1 VAR_056878 Q5H9T9:p.Asp423Glu SP substitution exon 1 VAR_056879 Q5H9T9:p.Ala642Thr SP substitution exon 1 VAR_056880 O15117:p.Pro51Leu SP substitution exon 1 VAR_056881 O15117:p.Lys332Arg SP substitution exon 1 VAR_056882 Q9BQS8:p.Arg447Cys SP substitution exon 1 VAR_056883 Q9BQS8:p.Glu994Lys SP substitution exon 1 VAR_056891 P57678:p.Phe182Leu SP substitution exon 1 VAR_056892 P57678:p.Ile502Val SP substitution exon 1 VAR_056893 P57678:p.Ile739Thr SP substitution exon 1 VAR_056894 P57678:p.Pro749Leu SP substitution exon 1 VAR_056895 P57678:p.Phe782Leu SP substitution exon 1 VAR_056896 P57678:p.Val824Phe SP substitution exon 1 VAR_056897 P57678:p.Val913Ile SP substitution exon 1 VAR_056898 Q7Z5L2:p.Ser113Pro SP substitution exon 1 VAR_056899 Q7Z5L2:p.Lys238Asn SP substitution exon 1 VAR_056900 Q7Z5L2:p.Ser261Gly SP substitution exon 1 VAR_056901 Q7Z5L2:p.Asp535Ala SP substitution exon 1 VAR_056902 Q7Z2K8:p.Gly337Ala SP substitution exon 1 VAR_056903 Q7Z2K8:p.Ser357Pro SP substitution exon 1 VAR_056905 Q9NYZ3:p.Ser303Asn SP substitution exon 1 VAR_056906 P54257:p.Leu408Phe SP substitution exon 1 VAR_056907 P54257:p.Thr493Met SP substitution exon 1 VAR_056908 P54257:p.Ala557Val SP substitution exon 1 VAR_056909 P54257:p.Gly656Arg SP substitution exon 1 VAR_056910 P14317:p.Val436Leu SP substitution exon 1 VAR_056911 Q86Y56:p.Val632Ala SP substitution exon 1 VAR_056912 Q8NCD3:p.Thr4Ala SP substitution exon 1 VAR_056913 Q8NCD3:p.Ser548Thr SP substitution exon 1 VAR_056914 Q8NCD3:p.Ser549Cys SP substitution exon 1 VAR_056915 Q8NCD3:p.Glu568Asp SP substitution exon 1 VAR_056916 Q8NCD3:p.Ser691Phe SP substitution exon 1 VAR_056917 O75330:p.Asn320Lys SP substitution exon 1 VAR_056918 O75330:p.Asp557His SP substitution exon 1 VAR_056919 O75330:p.Leu595Ile SP substitution exon 1 VAR_056920 Q6ZMJ4:p.Ser195Thr SP substitution exon 1 VAR_056922 A5PL33:p.His320Arg SP substitution exon 1 VAR_056923 Q8IVV2:p.Val85Ile SP substitution exon 1 VAR_056924 Q8IVV2:p.Gly348Cys SP substitution exon 1 VAR_056925 Q8IVV2:p.Gly354Cys SP substitution exon 1 VAR_056926 Q8IVV2:p.Asp398Gly SP substitution exon 1 VAR_056927 Q8IVV2:p.Val547Met SP substitution exon 1 VAR_056930 Q6NSJ5:p.Val433Ile SP substitution exon 1 VAR_056932 Q86V48:p.Ser317Ala SP substitution exon 1 VAR_056933 Q86V48:p.Thr491Ile SP substitution exon 1 VAR_056935 A1Z1Q3:p.Thr58Ile SP substitution exon 1 VAR_056936 Q6ZW33:p.Val70Ile SP substitution exon 1 VAR_056937 Q6ZW33:p.Tyr93Ser SP substitution exon 1 VAR_056938 Q6ZW33:p.Ala305Thr SP substitution exon 1 VAR_056939 Q6ZW33:p.Ser313Gly SP substitution exon 1 VAR_056940 Q6ZW33:p.Asp369Glu SP substitution exon 1 VAR_056941 Q5VT66:p.Val96Leu SP substitution exon 1 VAR_056942 Q9Y6F6:p.Ile11Val SP substitution exon 1 VAR_056943 Q9Y6F6:p.Ala28Thr SP substitution exon 1 VAR_056944 Q9Y6F6:p.Ala70Thr SP substitution exon 1 VAR_056945 Q9Y6F6:p.Pro186Ser SP substitution exon 1 VAR_056946 Q9Y6F6:p.Gln270His SP substitution exon 1 VAR_056947 Q9UBK8:p.Ala542Val SP substitution exon 1 VAR_056948 Q96EZ4:p.Arg198Gln SP substitution exon 1 VAR_056951 Q5VU43:p.Lys143Glu SP substitution exon 1 VAR_056952 Q5VU43:p.Asn150Ser SP substitution exon 1 VAR_056953 P20929:p.Thr6131Ile SP substitution exon 1 VAR_056954 P20929:p.Ile6546Val SP substitution exon 1 VAR_056955 Q5SY16:p.Ile420Val SP substitution exon 1 VAR_056956 Q15155:p.Met580Val SP substitution exon 1 VAR_056958 Q8WVF1:p.Thr141Ala SP substitution exon 1 VAR_056961 O95613:p.Trp2239Arg SP substitution exon 1 VAR_056962 O95613:p.Pro2274Leu SP substitution exon 1 VAR_056963 O95613:p.Pro2329Arg SP substitution exon 1 VAR_056964 O95613:p.Gln2361Arg SP substitution exon 1 VAR_056965 O95613:p.Ala2549Thr SP substitution exon 1 VAR_056966 O95613:p.Arg2625Gln SP substitution exon 1 VAR_056967 O95613:p.Gln2659His SP substitution exon 1 VAR_056968 O95613:p.Arg2753His SP substitution exon 1 VAR_056969 O95613:p.Gln2792Arg SP substitution exon 1 VAR_056970 O95613:p.Ala2903Thr SP substitution exon 1 VAR_056971 O95613:p.Leu2975Pro SP substitution exon 1 VAR_056972 O95613:p.Ser3091Gly SP substitution exon 1 VAR_056973 O95613:p.Arg3245Ser SP substitution exon 1 VAR_056974 Q8TBY8:p.Thr655Lys SP substitution exon 1 VAR_056975 Q2KHR3:p.Val385Ile SP substitution exon 1 VAR_056976 Q96B01:p.Lys68Gln SP substitution exon 1 VAR_056977 Q6WKZ4:p.Ala768Val SP substitution exon 1 VAR_056978 O94763:p.Leu22Pro SP substitution exon 1 VAR_056983 Q8N1H7:p.Tyr125Cys SP substitution exon 1 VAR_056986 Q9NP31:p.Arg272Cys SP substitution exon 1 VAR_056989 Q99954:p.Gly28Arg SP substitution exon 1 VAR_056990 P18583:p.Thr870Ala SP substitution exon 1 VAR_056994 Q6UW49:p.His134Gln SP substitution exon 1 VAR_056995 Q8N5C6:p.Thr361Met SP substitution exon 1 VAR_056998 P28290:p.Ala817Val SP substitution exon 1 VAR_056999 Q6ZWJ1:p.Cys120Arg SP substitution exon 1 VAR_057001 Q15527:p.Arg221Gln SP substitution exon 1 VAR_057002 Q13428:p.Ala221Pro SP substitution exon 1 VAR_057003 Q8WVE6:p.Phe23Leu SP substitution exon 1 VAR_057004 Q8WVE6:p.Arg86Gly SP substitution exon 1 VAR_057005 Q8WVE6:p.Asn139Lys SP substitution exon 1 VAR_057006 Q96KP6:p.Lys99Glu SP substitution exon 1 VAR_057007 Q92547:p.Asn955Ser SP substitution exon 1 VAR_057008 Q13061:p.Thr128Ser SP substitution exon 1 VAR_057009 Q13061:p.Ser339Asn SP substitution exon 1 VAR_057010 Q13061:p.Val404Gly SP substitution exon 1 VAR_057011 Q13061:p.Asp419Glu SP substitution exon 1 VAR_057012 Q13061:p.Leu470Met SP substitution exon 1 VAR_057013 Q13061:p.Ile540Met SP substitution exon 1 VAR_057014 P49815:p.Ala1141Val SP substitution exon 1 VAR_057015 P49815:p.Ser1774Thr SP substitution exon 1 VAR_057016 Q15849:p.Thr37Ile SP substitution exon 1 VAR_057017 Q15849:p.Gly443Ser SP substitution exon 1 VAR_057018 Q15849:p.Val750Ile SP substitution exon 1 VAR_057019 O60504:p.Pro255Leu SP substitution exon 1 VAR_057020 A6NCI4:p.Thr657Ile SP substitution exon 1 VAR_057023 P04275:p.Asn318Lys SP substitution exon 1 VAR_057024 P04275:p.Met740Ile SP substitution exon 1 VAR_057025 P04275:p.Phe885Ser SP substitution exon 1 VAR_057026 P04275:p.Ala2178Ser SP substitution exon 1 VAR_057027 P04275:p.Arg2185Gln SP substitution exon 1 VAR_057028 P04275:p.Gly2705Arg SP substitution exon 1 VAR_057029 Q9P202:p.Ala443Ser SP substitution exon 1 VAR_057030 Q9H171:p.Arg17Ile SP substitution exon 1 VAR_057031 Q9H171:p.Gly70Arg SP substitution exon 1 VAR_057032 Q9H171:p.Asp154His SP substitution exon 1 VAR_057033 Q9H171:p.Arg166His SP substitution exon 1 VAR_057038 P09668:p.Gly11Arg SP substitution exon 1 VAR_057039 P09668:p.Ala23Thr SP substitution exon 1 VAR_057040 Q5NE16:p.Ser123Gly SP substitution exon 1 VAR_057041 P56202:p.Gln218Arg SP substitution exon 1 VAR_057042 Q9P2H5:p.Val236Met SP substitution exon 1 VAR_057043 Q9H0E7:p.Glu316Gln SP substitution exon 1 VAR_057044 Q9H0E7:p.Arg348Gly SP substitution exon 1 VAR_057045 Q96HI0:p.Asn83Ser SP substitution exon 1 VAR_057047 O00233:p.Thr74Ile SP substitution exon 1 VAR_057048 O00233:p.Arg134Trp SP substitution exon 1 VAR_057049 O00233:p.Glu197Gly SP substitution exon 1 VAR_057050 Q9UNM6:p.Ser150Leu SP substitution exon 1 VAR_057051 P98160:p.Leu303His SP substitution exon 1 VAR_057052 P98160:p.Leu1323Val SP substitution exon 1 VAR_057053 Q8N6M6:p.Val179Ile SP substitution exon 1 VAR_057054 Q8N6M6:p.Arg255Gln SP substitution exon 1 VAR_057055 Q8N6M6:p.Arg386Cys SP substitution exon 1 VAR_057056 Q07075:p.Arg437His SP substitution exon 1 VAR_057057 Q07075:p.Ser861Arg SP substitution exon 1 VAR_057058 O43847:p.Tyr831Ser SP substitution exon 1 VAR_057063 Q6HA08:p.Lys277Gln SP substitution exon 1 VAR_057064 Q16820:p.Val326Met SP substitution exon 1 VAR_057065 Q16820:p.Pro695Leu SP substitution exon 1 VAR_057066 Q9H013:p.Gly4Ser SP substitution exon 1 VAR_057067 Q9UKQ2:p.Arg219Met SP substitution exon 1 VAR_057068 Q9UKQ2:p.Glu226Asp SP substitution exon 1 VAR_057073 O75173:p.Ala77Thr SP substitution exon 1 VAR_057074 P58397:p.Gln110Glu SP substitution exon 1 VAR_057075 P58397:p.Arg1000Gln SP substitution exon 1 VAR_057076 Q8TE57:p.Met110Val SP substitution exon 1 VAR_057077 Q8TE57:p.Ala486Thr SP substitution exon 1 VAR_057078 Q8TE57:p.Arg789Cys SP substitution exon 1 VAR_057079 Q8TE57:p.Arg859Leu SP substitution exon 1 VAR_057080 Q8TE57:p.Glu863Lys SP substitution exon 1 VAR_057081 Q8TE56:p.Ser216Leu SP substitution exon 1 VAR_057082 Q8TE56:p.Met482Thr SP substitution exon 1 VAR_057087 Q8TE59:p.Glu582Gly SP substitution exon 1 VAR_057088 P59510:p.Lys876Met SP substitution exon 1 VAR_057089 P59510:p.Arg1000His SP substitution exon 1 VAR_057090 P59510:p.Ser1273Phe SP substitution exon 1 VAR_057091 Q13219:p.Ser5Ile SP substitution exon 1 VAR_057092 Q13219:p.Pro325Leu SP substitution exon 1 VAR_057093 Q9BTC0:p.Met544Thr SP substitution exon 1 VAR_057094 Q9BTC0:p.Ala556Thr SP substitution exon 1 VAR_057095 Q9BTC0:p.Ala793Gly SP substitution exon 1 VAR_057096 Q9BTC0:p.Pro1220Gln SP substitution exon 1 VAR_057097 Q9Y2I7:p.Met617Val SP substitution exon 1 VAR_057098 Q9Y2I7:p.Ser1033Ala SP substitution exon 1 VAR_057099 Q9Y2I7:p.Arg1858Gln SP substitution exon 1 VAR_057101 Q6XUX3:p.Leu432Val SP substitution exon 1 VAR_057102 Q9Y4K4:p.His41Tyr SP substitution exon 1 VAR_057103 Q96GX5:p.Asp606Tyr SP substitution exon 1 VAR_057105 Q6DT37:p.Gln1135Arg SP substitution exon 1 VAR_057106 Q15746:p.Pro21His SP substitution exon 1 VAR_057107 Q15746:p.Pro336Leu SP substitution exon 1 VAR_057108 Q15746:p.Arg845Cys SP substitution exon 1 VAR_057109 Q15746:p.Val877Met SP substitution exon 1 VAR_057110 O75116:p.Lys1083Met SP substitution exon 1 VAR_057112 Q9NRP7:p.Gln638Pro SP substitution exon 1 VAR_057113 Q6PHR2:p.Arg101His SP substitution exon 1 VAR_057114 Q9Y3S1:p.Val828Met SP substitution exon 1 VAR_057115 Q07912:p.Pro802Leu SP substitution exon 1 VAR_057116 Q96Q04:p.Val900Leu SP substitution exon 1 VAR_057117 Q8NEV8:p.Met1147Ile SP substitution exon 1 VAR_057118 Q8NEV8:p.Ser1236Ala SP substitution exon 1 VAR_057119 Q8NEV8:p.Thr1343Ala SP substitution exon 1 VAR_057120 Q8NEV8:p.Glu1656Lys SP substitution exon 1 VAR_057121 Q8NEV8:p.Ile1735Phe SP substitution exon 1 VAR_057122 Q15751:p.Ile4394Val SP substitution exon 1 VAR_057123 Q9UII4:p.Ala301Thr SP substitution exon 1 VAR_057124 Q14191:p.Arg711Trp SP substitution exon 1 VAR_057125 O94761:p.Pro793Leu SP substitution exon 1 VAR_057126 O94761:p.Leu1043Pro SP substitution exon 1 VAR_057128 Q16821:p.Arg627Lys SP substitution exon 1 VAR_057130 Q9UII6:p.Arg62Gln SP substitution exon 1 VAR_057131 Q9UII6:p.Arg190Gly SP substitution exon 1 VAR_057132 Q8TE77:p.Glu239Val SP substitution exon 1 VAR_057133 Q8TE77:p.Arg600His SP substitution exon 1 VAR_057134 P18433:p.Pro109Leu SP substitution exon 1 VAR_057135 P23467:p.Val395Ala SP substitution exon 1 VAR_057136 P23467:p.Asp415Glu SP substitution exon 1 VAR_057137 P23467:p.Thr939Met SP substitution exon 1 VAR_057138 P23467:p.Thr1032Ile SP substitution exon 1 VAR_057139 P23467:p.Gly1934Ala SP substitution exon 1 VAR_057140 Q15256:p.Tyr249His SP substitution exon 1 VAR_057141 Q15256:p.Val386Ile SP substitution exon 1 VAR_057143 Q9Y217:p.Ala131Thr SP substitution exon 1 VAR_057144 Q9Y216:p.Gln559His SP substitution exon 1 VAR_057145 O95644:p.Pro68Thr SP substitution exon 1 VAR_057148 Q8N1G1:p.Val408Ala SP substitution exon 1 VAR_057149 Q8N1G1:p.Ile804Val SP substitution exon 1 VAR_057150 Q96LA8:p.Ala194Val SP substitution exon 1 VAR_057151 P48378:p.Ala86Thr SP substitution exon 1 VAR_057152 Q33E94:p.Ser698Ala SP substitution exon 1 VAR_057153 P49802:p.Met137Leu SP substitution exon 1 VAR_057154 Q96KP4:p.Tyr126His SP substitution exon 1 VAR_057155 Q9UQQ1:p.Gln2His SP substitution exon 1 VAR_057156 Q9UQQ1:p.Lys398Thr SP substitution exon 1 VAR_057157 Q9UQQ1:p.Leu611Val SP substitution exon 1 VAR_057158 P17538:p.Asp222His SP substitution exon 1 VAR_057159 Q7RTY7:p.Leu557Val SP substitution exon 1 VAR_057161 P00739:p.Thr27Met SP substitution exon 1 VAR_057162 P00739:p.Asn42His SP substitution exon 1 VAR_057163 P00739:p.Arg58Lys SP substitution exon 1 VAR_057164 P00739:p.Arg203Lys SP substitution exon 1 VAR_057165 P00739:p.Val283Ala SP substitution exon 1 VAR_057166 Q15413:p.Ile358Thr SP substitution exon 1 VAR_057168 Q8TEU7:p.Ser570Ala SP substitution exon 1 VAR_057169 Q8TEU7:p.Ala594Pro SP substitution exon 1 VAR_057172 Q8TDF6:p.Glu620Lys SP substitution exon 1 VAR_057173 Q92503:p.Val37Met SP substitution exon 1 VAR_057175 Q92854:p.Ala327Thr SP substitution exon 1 VAR_057176 Q8IYM1:p.Gln213Arg SP substitution exon 1 VAR_057178 Q562F6:p.Glu343Ala SP substitution exon 1 VAR_057179 Q562F6:p.Asn660Ser SP substitution exon 1 VAR_057180 Q562F6:p.Ile1099Thr SP substitution exon 1 VAR_057181 Q562F6:p.His1143Arg SP substitution exon 1 VAR_057182 P55822:p.Asp23Glu SP substitution exon 1 VAR_057183 P55822:p.Asp50Asn SP substitution exon 1 VAR_057184 Q9NXL6:p.Val78Met SP substitution exon 1 VAR_057185 Q9NXL6:p.Thr363Ile SP substitution exon 1 VAR_057187 Q9NR80:p.Asp33His SP substitution exon 1 VAR_057189 O94989:p.Pro73Ser SP substitution exon 1 VAR_057190 O60229:p.Arg1929Met SP substitution exon 1 VAR_057191 Q8TCU6:p.Arg696Cys SP substitution exon 1 VAR_057192 Q8TCU6:p.Ala1118Thr SP substitution exon 1 VAR_057193 Q9UKG4:p.Pro451Ser SP substitution exon 1 VAR_057194 O00337:p.Ala190Ser SP substitution exon 1 VAR_057195 O00337:p.Gln237Lys SP substitution exon 1 VAR_057196 O00337:p.Arg510Cys SP substitution exon 1 VAR_057197 Q16540:p.Arg11Gln SP substitution exon 1 VAR_057198 Q16540:p.Gly32Ser SP substitution exon 1 VAR_057199 Q16540:p.Ala34Val SP substitution exon 1 VAR_057200 Q16540:p.Asp81Asn SP substitution exon 1 VAR_057201 Q16540:p.Ala122Thr SP substitution exon 1 VAR_057202 P30203:p.Arg225Trp SP substitution exon 1 VAR_057203 P30203:p.Ala271Thr SP substitution exon 1 VAR_057204 P30203:p.Ser351Asn SP substitution exon 1 VAR_057205 P30203:p.Gly606Ser SP substitution exon 1 VAR_057210 Q96N87:p.Ala4Asp SP substitution exon 1 VAR_057211 P22681:p.Leu620Phe SP substitution exon 1 VAR_057212 P22681:p.Pro782Leu SP substitution exon 1 VAR_057213 P22681:p.Val904Ile SP substitution exon 1 VAR_057215 O43164:p.Glu176Gly SP substitution exon 1 VAR_057218 O94822:p.Ala500Val SP substitution exon 1 VAR_057219 O94822:p.Gly565Cys SP substitution exon 1 VAR_057220 O94822:p.Val761Ile SP substitution exon 1 VAR_057224 Q6PJ69:p.Gly364Arg SP substitution exon 1 VAR_057225 Q6PJ69:p.Gly366Ser SP substitution exon 1 VAR_057226 Q86WT6:p.Asp12Asn SP substitution exon 1 VAR_057227 Q86WT6:p.Asp15Asn SP substitution exon 1 VAR_057228 Q86WT6:p.Lys104Arg SP substitution exon 1 VAR_057229 Q86WT6:p.Thr161Met SP substitution exon 1 VAR_057230 Q86WT6:p.Ala190Val SP substitution exon 1 VAR_057234 Q9NXZ2:p.Lys625Glu SP substitution exon 1 VAR_057235 Q9NXZ2:p.Gln629Arg SP substitution exon 1 VAR_057239 Q9H6R0:p.Arg118Cys SP substitution exon 1 VAR_057241 Q14147:p.Arg17Trp SP substitution exon 1 VAR_057242 Q14147:p.Gly117Asp SP substitution exon 1 VAR_057243 Q06330:p.Met296Lys SP substitution exon 1 VAR_057244 Q06330:p.Ile408Val SP substitution exon 1 VAR_057245 Q9H6T0:p.Pro627Ser SP substitution exon 1 VAR_057246 Q9Y4C8:p.Arg821Gly SP substitution exon 1 VAR_057247 Q6ZP01:p.Asp51His SP substitution exon 1 VAR_057248 Q12872:p.Gly512Ser SP substitution exon 1 VAR_057249 Q12872:p.Glu538Gly SP substitution exon 1 VAR_057251 Q8NDV7:p.Asn185Lys SP substitution exon 1 VAR_057252 Q8NDV7:p.Ala592Thr SP substitution exon 1 VAR_057253 Q8NDV7:p.Pro788Ser SP substitution exon 1 VAR_057254 Q8NDV7:p.Glu1268Lys SP substitution exon 1 VAR_057255 Q9NW08:p.Thr740Ala SP substitution exon 1 VAR_057256 Q9UMS6:p.Gly154Ala SP substitution exon 1 VAR_057257 Q9UMS6:p.Gln174His SP substitution exon 1 VAR_057258 Q9UMS6:p.Ala179Thr SP substitution exon 1 VAR_057259 P32856:p.Lys54Arg SP substitution exon 1 VAR_057260 Q53T94:p.Arg292His SP substitution exon 1 VAR_057261 Q15572:p.Gly523Arg SP substitution exon 1 VAR_057263 Q6P1X5:p.Glu686Lys SP substitution exon 1 VAR_057264 Q9BTW9:p.Met617Thr SP substitution exon 1 VAR_057265 Q9BTW9:p.Ser923Asn SP substitution exon 1 VAR_057266 Q9BTW9:p.Gly943Val SP substitution exon 1 VAR_057267 Q9BTW9:p.Leu1185Pro SP substitution exon 1 VAR_057269 Q92526:p.Gly247Ala SP substitution exon 1 VAR_057271 P49753:p.Arg16Ser SP substitution exon 1 VAR_057272 Q9BTZ2:p.Ala31Thr SP substitution exon 1 VAR_057273 P42694:p.Cys48Arg SP substitution exon 1 VAR_057274 P42694:p.Val74Met SP substitution exon 1 VAR_057275 P42694:p.Ala1530Val SP substitution exon 1 VAR_057276 Q8IU89:p.Asp342Gly SP substitution exon 1 VAR_057279 Q96SJ8:p.Val133Ile SP substitution exon 1 VAR_057280 Q96DZ7:p.Val162Ile SP substitution exon 1 VAR_057281 Q8TDI7:p.Gln205Arg SP substitution exon 1 VAR_057282 Q8TDI7:p.Trp217Arg SP substitution exon 1 VAR_057283 Q8TDI7:p.Ser589Cys SP substitution exon 1 VAR_057284 Q8TDI7:p.Glu816Gln SP substitution exon 1 VAR_057285 Q6UXY8:p.Ser328Asn SP substitution exon 1 VAR_057287 Q9BYT9:p.Leu781Val SP substitution exon 1 VAR_057288 Q9UBN6:p.Thr345Pro SP substitution exon 1 VAR_057289 Q9Y2C9:p.Ile120Thr SP substitution exon 1 VAR_057290 Q9Y2C9:p.Leu194Pro SP substitution exon 1 VAR_057291 Q9Y2C9:p.Arg247Lys SP substitution exon 1 VAR_057292 Q9Y2C9:p.Val327Met SP substitution exon 1 VAR_057293 Q9Y2C9:p.His345Tyr SP substitution exon 1 VAR_057294 Q9Y2C9:p.Val427Ala SP substitution exon 1 VAR_057295 Q9Y2C9:p.Val465Ile SP substitution exon 1 VAR_057296 Q9Y2C9:p.Ala474Thr SP substitution exon 1 VAR_057297 Q9Y2C9:p.Met783Val SP substitution exon 1 VAR_057298 Q99467:p.Val20Leu SP substitution exon 1 VAR_057299 Q99467:p.Asp259Asn SP substitution exon 1 VAR_057300 Q99467:p.Thr430Ala SP substitution exon 1 VAR_057301 Q99467:p.Phe648Leu SP substitution exon 1 VAR_057302 Q96A29:p.Trp49Ser SP substitution exon 1 VAR_057303 Q96A29:p.Ile240Val SP substitution exon 1 VAR_057304 P08582:p.Ala559Thr SP substitution exon 1 VAR_057307 Q8NER1:p.Pro91Ser SP substitution exon 1 VAR_057308 Q8NER1:p.Thr469Ile SP substitution exon 1 VAR_057309 Q8NER1:p.Thr505Ala SP substitution exon 1 VAR_057311 Q15714:p.Pro652Ser SP substitution exon 1 VAR_057312 Q9BWV7:p.Pro63Ser SP substitution exon 1 VAR_057313 Q9BWV7:p.Ile356Val SP substitution exon 1 VAR_057314 Q9BWV7:p.Val559Ile SP substitution exon 1 VAR_057315 Q14679:p.Thr1138Ile SP substitution exon 1 VAR_057320 O00295:p.Gly122Ser SP substitution exon 1 VAR_057321 Q9BXT4:p.Val864Leu SP substitution exon 1 VAR_057323 Q5VVX9:p.Ile90Thr SP substitution exon 1 VAR_057326 Q9Y4X1:p.Val391Ile SP substitution exon 1 VAR_057327 P16662:p.Ala71Ser SP substitution exon 1 VAR_057328 P16662:p.Asn378Ser SP substitution exon 1 VAR_057329 Q3SY77:p.Tyr74Asn SP substitution exon 1 VAR_057330 Q9H267:p.Phe513Ser SP substitution exon 1 VAR_057334 Q92543:p.Ser407Gly SP substitution exon 1 VAR_057335 Q9Y5M8:p.Val9Leu SP substitution exon 1 VAR_057336 Q8N695:p.Val193Ile SP substitution exon 1 VAR_057337 Q8N695:p.Phe251Val SP substitution exon 1 VAR_057338 Q9Y512:p.Asp110Gly SP substitution exon 1 VAR_057339 P50225:p.Glu151Gln SP substitution exon 1 VAR_057340 P50226:p.Pro19Leu SP substitution exon 1 VAR_057341 P50226:p.Tyr62Phe SP substitution exon 1 VAR_057342 P50226:p.Asn239Ser SP substitution exon 1 VAR_057343 O75396:p.Arg108Gln SP substitution exon 1 VAR_057344 O75396:p.Trp214Cys SP substitution exon 1 VAR_057345 Q3MII6:p.Asn277Ser SP substitution exon 1 VAR_057346 Q9BZE7:p.Met136Leu SP substitution exon 1 VAR_057347 P56180:p.Arg195Gln SP substitution exon 1 VAR_057349 Q6XPS3:p.Ile444Val SP substitution exon 1 VAR_057350 P00488:p.Met351Lys SP substitution exon 1 VAR_057351 Q86VQ3:p.Ala225Pro SP substitution exon 1 VAR_057352 Q86VQ3:p.Ile314Leu SP substitution exon 1 VAR_057355 Q7L0Y3:p.Pro56Arg SP substitution exon 1 VAR_057356 Q7L0Y3:p.Lys164Asn SP substitution exon 1 VAR_057357 Q5JTZ9:p.Met850Val SP substitution exon 1 VAR_057359 O14686:p.Ala476Thr SP substitution exon 1 VAR_057360 Q8NEZ4:p.Arg526Pro SP substitution exon 1 VAR_057361 Q8NEZ4:p.Ser1836Asn SP substitution exon 1 VAR_057362 Q8NEZ4:p.Thr2008Ala SP substitution exon 1 VAR_057363 Q8NEZ4:p.Pro2412Thr SP substitution exon 1 VAR_057364 Q8NEZ4:p.Pro2600Ala SP substitution exon 1 VAR_057365 P82987:p.Gly713Arg SP substitution exon 1 VAR_057366 Q9UPZ6:p.Phe238Leu SP substitution exon 1 VAR_057367 Q9UPZ6:p.Asp771Glu SP substitution exon 1 VAR_057369 Q9Y5A7:p.Gln13Arg SP substitution exon 1 VAR_057370 Q04323:p.Leu56Phe SP substitution exon 1 VAR_057371 Q12887:p.Thr28Ile SP substitution exon 1 VAR_057372 Q12887:p.Thr62Ser SP substitution exon 1 VAR_057373 Q12887:p.Tyr97Cys SP substitution exon 1 VAR_057374 Q8NI51:p.Arg448His SP substitution exon 1 VAR_057375 Q86UP3:p.Ile2036Val SP substitution exon 1 VAR_057376 Q86UP3:p.Val3033Gly SP substitution exon 1 VAR_057377 Q9UJU3:p.Phe159Leu SP substitution exon 1 VAR_057378 Q9UJU3:p.Gly163Glu SP substitution exon 1 VAR_057379 Q9UJU3:p.Thr287Lys SP substitution exon 1 VAR_057380 Q9UJU3:p.Glu780Ala SP substitution exon 1 VAR_057381 P17017:p.Arg379Gln SP substitution exon 1 VAR_057382 P17021:p.Thr148Lys SP substitution exon 1 VAR_057383 P15822:p.Thr187Met SP substitution exon 1 VAR_057384 P15822:p.Pro362Leu SP substitution exon 1 VAR_057385 P15822:p.Thr716Ala SP substitution exon 1 VAR_057386 P15822:p.Val828Ile SP substitution exon 1 VAR_057387 P15822:p.Thr873Ala SP substitution exon 1 VAR_057388 P15822:p.Asn1074Ser SP substitution exon 1 VAR_057389 P15822:p.Lys1170Asn SP substitution exon 1 VAR_057390 P15822:p.Ala1520Gly SP substitution exon 1 VAR_057391 P15822:p.Met1609Ile SP substitution exon 1 VAR_057392 P15822:p.Gln1915Arg SP substitution exon 1 VAR_057393 Q05481:p.Tyr112His SP substitution exon 1 VAR_057394 Q05481:p.Thr896Ala SP substitution exon 1 VAR_057395 Q8IYN0:p.Met8Val SP substitution exon 1 VAR_057396 Q03924:p.Cys83Tyr SP substitution exon 1 VAR_057397 Q03924:p.Lys112Asn SP substitution exon 1 VAR_057398 P52744:p.Gly62Glu SP substitution exon 1 VAR_057399 Q12901:p.Lys379Arg SP substitution exon 1 VAR_057400 Q9HCG1:p.Arg7Gln SP substitution exon 1 VAR_057401 Q13360:p.Ile295Phe SP substitution exon 1 VAR_057402 Q13398:p.Ala314Val SP substitution exon 1 VAR_057403 Q9UL59:p.Tyr66Cys SP substitution exon 1 VAR_057404 Q9UL59:p.His160Arg SP substitution exon 1 VAR_057405 Q9UL58:p.Asn36Ser SP substitution exon 1 VAR_057406 Q9UL58:p.Val38Ile SP substitution exon 1 VAR_057407 Q9UL58:p.Ser263Phe SP substitution exon 1 VAR_057408 Q9UJW7:p.Ser156Phe SP substitution exon 1 VAR_057409 Q9UJW7:p.Arg337Cys SP substitution exon 1 VAR_057410 Q9UL36:p.Ser166Leu SP substitution exon 1 VAR_057411 Q9UL36:p.Pro614Ser SP substitution exon 1 VAR_057412 Q9UL36:p.Ser643Gly SP substitution exon 1 VAR_057413 Q9UL36:p.Ala818Thr SP substitution exon 1 VAR_057414 Q14586:p.Met257Val SP substitution exon 1 VAR_057415 Q9NRM2:p.Val364Met SP substitution exon 1 VAR_057419 Q494X3:p.His233Tyr SP substitution exon 1 VAR_057420 Q9Y2A4:p.Pro591Gln SP substitution exon 1 VAR_057421 Q5JVG8:p.Thr189Pro SP substitution exon 1 VAR_057422 Q6ZSB9:p.Tyr320Ser SP substitution exon 1 VAR_057423 Q6ZSB9:p.Ala348Thr SP substitution exon 1 VAR_057424 Q6ZSB9:p.Ala642Val SP substitution exon 1 VAR_057425 Q6ZMY9:p.Pro6Leu SP substitution exon 1 VAR_057426 Q86YE8:p.Gly204Ala SP substitution exon 1 VAR_057427 Q6ZNG1:p.Met2Val SP substitution exon 1 VAR_057428 Q6PF04:p.Ser163Phe SP substitution exon 1 VAR_057430 O15015:p.Ala98Val SP substitution exon 1 VAR_057431 O15015:p.Glu327Gly SP substitution exon 1 VAR_057432 O15015:p.Ile774Met SP substitution exon 1 VAR_057433 O15015:p.Gly921Ala SP substitution exon 1 VAR_057434 O15015:p.Arg1249Trp SP substitution exon 1 VAR_057435 O15015:p.Arg1318Gln SP substitution exon 1 VAR_057436 O15015:p.Gly1477Asp SP substitution exon 1 VAR_057437 O15015:p.Thr1788Met SP substitution exon 1 VAR_057438 Q96CK0:p.Ala329Thr SP substitution exon 1 VAR_057439 Q96BR6:p.Glu76Asp SP substitution exon 1 VAR_057440 Q8TD23:p.Val197Ala SP substitution exon 1 VAR_057441 Q5SXM1:p.Thr197Ile SP substitution exon 1 VAR_057442 Q8IZ20:p.Gly22Val SP substitution exon 1 VAR_057443 Q8IZ20:p.Asp48Gly SP substitution exon 1 VAR_057444 Q8IZ20:p.His53Arg SP substitution exon 1 VAR_057445 Q8IZ20:p.Arg288Leu SP substitution exon 1 VAR_057446 Q8IW36:p.Arg84Lys SP substitution exon 1 VAR_057447 Q8IW36:p.Val87Ala SP substitution exon 1 VAR_057453 Q6PG37:p.Thr486Ser SP substitution exon 1 VAR_057454 Q5CZA5:p.Gly68Glu SP substitution exon 1 VAR_057455 P0C7V5:p.Lys63Gln SP substitution exon 1 VAR_057456 A8K0R7:p.Ala314Thr SP substitution exon 1 VAR_057458 O43167:p.Ala518Thr SP substitution exon 1 VAR_057459 Q8IWY8:p.Gly199Ser SP substitution exon 1 VAR_057461 Q9NQW5:p.Asp90Glu SP substitution exon 1 VAR_057462 Q9NQW5:p.Arg131Lys SP substitution exon 1 VAR_057463 Q9NQW5:p.Asn435Lys SP substitution exon 1 VAR_057464 Q2QGD7:p.Pro562Leu SP substitution exon 1 VAR_057467 O95425:p.Val1041Leu SP substitution exon 1 VAR_057468 O95425:p.Ile2005Val SP substitution exon 1 VAR_057469 O95425:p.Ala2041Val SP substitution exon 1 VAR_057470 Q9Y6U3:p.Phe455Leu SP substitution exon 1 VAR_057472 Q13822:p.Asn577Ser SP substitution exon 1 VAR_057473 Q13822:p.Ser726Leu SP substitution exon 1 VAR_057474 Q8TCV5:p.His97Tyr SP substitution exon 1 VAR_057475 Q01831:p.Phe287Cys SP substitution exon 1 VAR_057476 Q01831:p.Cys514Ser SP substitution exon 1 VAR_057477 Q92889:p.Val33Leu SP substitution exon 1 VAR_057480 Q9NP94:p.Leu48Pro SP substitution exon 1 VAR_057481 Q6P5W5:p.Thr158Met SP substitution exon 1 VAR_057482 Q6P5W5:p.Glu284Lys SP substitution exon 1 VAR_057483 Q6P5W5:p.Leu372Val SP substitution exon 1 VAR_057484 Q8IXZ2:p.Arg168Trp SP substitution exon 1 VAR_057485 Q8IXZ2:p.Ala228Ser SP substitution exon 1 VAR_057486 Q8IXZ2:p.Pro351Leu SP substitution exon 1 VAR_057487 Q8IXZ2:p.Pro415Leu SP substitution exon 1 VAR_057488 Q8IXZ2:p.Thr503Lys SP substitution exon 1 VAR_057489 Q8N5P1:p.Cys240Trp SP substitution exon 1 VAR_057490 Q8IUH4:p.Tyr392Cys SP substitution exon 1 VAR_057491 Q8IX07:p.Gly70Ala SP substitution exon 1 VAR_057492 Q7Z3T8:p.Ala35Glu SP substitution exon 1 VAR_057494 Q96K21:p.Arg210His SP substitution exon 1 VAR_057495 Q8IYR2:p.Asn101Asp SP substitution exon 1 VAR_057496 Q8IYR2:p.Gly236Ser SP substitution exon 1 VAR_057497 Q8IYR2:p.Ile374Met SP substitution exon 1 VAR_057498 Q8IYR2:p.Pro382Arg SP substitution exon 1 VAR_057499 Q03167:p.Phe351Ile SP substitution exon 1 VAR_057500 O75443:p.Gln19Arg SP substitution exon 1 VAR_057501 O75443:p.Ser1584Thr SP substitution exon 1 VAR_057503 Q14692:p.Arg237His SP substitution exon 1 VAR_057504 Q14692:p.Ser552Pro SP substitution exon 1 VAR_057505 Q14692:p.Lys652Arg SP substitution exon 1 VAR_057506 Q14692:p.Met884Val SP substitution exon 1 VAR_057507 Q14692:p.Val1141Ile SP substitution exon 1 VAR_057508 Q6UWJ8:p.Met76Val SP substitution exon 1 VAR_057509 Q8IY51:p.Ala432Thr SP substitution exon 1 VAR_057510 Q8IY51:p.Gln489Arg SP substitution exon 1 VAR_057511 Q15021:p.Lys580Arg SP substitution exon 1 VAR_057512 O75638:p.Pro99Ala SP substitution exon 1 VAR_057513 Q9HCG8:p.Ala656Val SP substitution exon 1 VAR_057514 Q9HCG8:p.Asp741Val SP substitution exon 1 VAR_057515 Q9HCG8:p.Arg794Gln SP substitution exon 1 VAR_057516 Q9UBP4:p.Glu49Asp SP substitution exon 1 VAR_057517 Q8N1I0:p.Asn535Asp SP substitution exon 1 VAR_057518 Q8N1I0:p.Arg853His SP substitution exon 1 VAR_057519 Q8N1I0:p.Arg1570Lys SP substitution exon 1 VAR_057520 Q8N1I0:p.Phe1580Leu SP substitution exon 1 VAR_057521 Q8N1I0:p.Gln1822Lys SP substitution exon 1 VAR_057522 Q96HP0:p.Arg826Cys SP substitution exon 1 VAR_057523 Q96HP0:p.Ala1442Thr SP substitution exon 1 VAR_057525 Q7L591:p.Arg12Pro SP substitution exon 1 VAR_057526 Q9HCU8:p.Gly59Arg SP substitution exon 1 VAR_057527 Q9NRF9:p.Asp126Ala SP substitution exon 1 VAR_057528 Q9BXX0:p.Ala215Thr SP substitution exon 1 VAR_057529 Q9BXX0:p.Met259Val SP substitution exon 1 VAR_057531 P98173:p.Ile21Met SP substitution exon 1 VAR_057532 Q8ND56:p.Arg238Gln SP substitution exon 1 VAR_057533 Q9NQC8:p.Cys9Tyr SP substitution exon 1 VAR_057534 P34982:p.Phe31Tyr SP substitution exon 1 VAR_057535 P34982:p.Thr240Ile SP substitution exon 1 VAR_057536 Q9GZK3:p.Ala183Pro SP substitution exon 1 VAR_057537 Q8NGH3:p.Leu82Ile SP substitution exon 1 VAR_057538 Q8NGH3:p.Arg155Trp SP substitution exon 1 VAR_057539 Q8NGH3:p.Trp165Ser SP substitution exon 1 VAR_057541 O43869:p.His25Arg SP substitution exon 1 VAR_057542 P47881:p.Ser78Gly SP substitution exon 1 VAR_057543 Q6IEV9:p.Pro8Thr SP substitution exon 1 VAR_057544 Q6IEV9:p.Leu15Ile SP substitution exon 1 VAR_057545 Q6IEV9:p.Thr277Pro SP substitution exon 1 VAR_057546 Q15615:p.Arg54Gln SP substitution exon 1 VAR_057547 Q8NH73:p.Ser72Thr SP substitution exon 1 VAR_057548 Q8NH73:p.Val195Gly SP substitution exon 1 VAR_057549 Q8NGP4:p.Leu84Phe SP substitution exon 1 VAR_057550 Q8NGP4:p.Gly163Ser SP substitution exon 1 VAR_057551 Q8NGW6:p.Glu39Asp SP substitution exon 1 VAR_057552 Q8NGW6:p.His49Tyr SP substitution exon 1 VAR_057553 Q8NGW6:p.Gly80Asp SP substitution exon 1 VAR_057554 Q8NGW6:p.Ser134Leu SP substitution exon 1 VAR_057555 Q8NGW6:p.Arg159Cys SP substitution exon 1 VAR_057556 Q8NGW6:p.Cys197Arg SP substitution exon 1 VAR_057557 Q8NGW6:p.Pro211Leu SP substitution exon 1 VAR_057558 Q8NGW6:p.Arg247Gln SP substitution exon 1 VAR_057559 Q8NGW6:p.His261Arg SP substitution exon 1 VAR_057560 Q8NGW6:p.Lys320Arg SP substitution exon 1 VAR_057561 Q8NGQ2:p.Gly316Ala SP substitution exon 1 VAR_057562 Q8NH40:p.Thr42Ile SP substitution exon 1 VAR_057563 Q8NH40:p.Val156Ile SP substitution exon 1 VAR_057564 Q8NH40:p.Arg237His SP substitution exon 1 VAR_057565 Q8NH40:p.Arg296Cys SP substitution exon 1 VAR_057566 Q8NH09:p.Leu82Pro SP substitution exon 1 VAR_057567 Q8NH09:p.Arg128Cys SP substitution exon 1 VAR_057568 Q8NGF6:p.Arg263Gln SP substitution exon 1 VAR_057576 Q9Y5P1:p.Pro283Ser SP substitution exon 1 VAR_057577 Q8TCB6:p.Ser9Asn SP substitution exon 1 VAR_057578 A6NGY5:p.Arg202Gln SP substitution exon 1 VAR_057579 A6NGY5:p.Ala258Val SP substitution exon 1 VAR_057580 Q9H2C8:p.Ser233Leu SP substitution exon 1 VAR_057581 Q9BTL4:p.Ala133Val SP substitution exon 1 VAR_057583 Q9H6U6:p.Ile106Val SP substitution exon 1 VAR_057584 Q9NSI6:p.Lys2156Arg SP substitution exon 1 VAR_057585 P57737:p.Ala174Val SP substitution exon 1 VAR_057586 P57737:p.Arg193Gln SP substitution exon 1 VAR_057587 P57737:p.Leu257Ser SP substitution exon 1 VAR_057588 P57737:p.Ala403Thr SP substitution exon 1 VAR_057589 Q9Y485:p.Ile221Met SP substitution exon 1 VAR_057590 Q9Y485:p.Ser851Asn SP substitution exon 1 VAR_057591 Q9Y485:p.Val2067Met SP substitution exon 1 VAR_057592 Q9Y485:p.Thr2107Ser SP substitution exon 1 VAR_057593 Q8TDJ6:p.Thr497Met SP substitution exon 1 VAR_057594 Q8TDJ6:p.Asn903Asp SP substitution exon 1 VAR_057595 Q8TDJ6:p.Ser1288Pro SP substitution exon 1 VAR_057596 Q8TDJ6:p.Asp1481Gly SP substitution exon 1 VAR_057597 Q8N3Y1:p.Thr211Ala SP substitution exon 1 VAR_057598 Q8N3Y1:p.Thr536Met SP substitution exon 1 VAR_057600 Q5XX13:p.Arg372Gly SP substitution exon 1 VAR_057601 Q6X9E4:p.Pro6Leu SP substitution exon 1 VAR_057602 Q6X9E4:p.Arg166Trp SP substitution exon 1 VAR_057603 Q6X9E4:p.Val273Asp SP substitution exon 1 VAR_057604 Q8TEQ6:p.Pro1155Ser SP substitution exon 1 VAR_057605 P50851:p.Ala1090Gly SP substitution exon 1 VAR_057606 P50851:p.Gly1230Asp SP substitution exon 1 VAR_057607 P50851:p.Asn1677Ser SP substitution exon 1 VAR_057608 P50851:p.Arg1997Cys SP substitution exon 1 VAR_057609 P50851:p.Ala2704Thr SP substitution exon 1 VAR_057610 P50851:p.Leu2713Phe SP substitution exon 1 VAR_057611 A2RRP1:p.Ile243Val SP substitution exon 1 VAR_057612 A2RRP1:p.Lys655Arg SP substitution exon 1 VAR_057613 A2RRP1:p.Arg1004Gln SP substitution exon 1 VAR_057614 A2RRP1:p.Ser1178Asn SP substitution exon 1 VAR_057615 A2RRP1:p.Ala2074Thr SP substitution exon 1 VAR_057616 Q9NVX2:p.Tyr406His SP substitution exon 1 VAR_057617 Q9NVX2:p.Ser434Asn SP substitution exon 1 VAR_057618 Q9BUR4:p.Pro136Arg SP substitution exon 1 VAR_057619 Q9BUR4:p.Asn187Thr SP substitution exon 1 VAR_057620 Q9BUR4:p.Glu494Gln SP substitution exon 1 VAR_057621 Q8TED0:p.Tyr228His SP substitution exon 1 VAR_057622 Q8TED0:p.Arg332Ser SP substitution exon 1 VAR_057623 Q8TED0:p.Thr483Pro SP substitution exon 1 VAR_057624 Q9P2S5:p.Ile331Met SP substitution exon 1 VAR_057625 Q9P2S5:p.Val358Ile SP substitution exon 1 VAR_057627 Q8NBT0:p.Gly79Ser SP substitution exon 1 VAR_057628 Q8NBT0:p.Gln348His SP substitution exon 1 VAR_057629 O43379:p.Gln1311Glu SP substitution exon 1 VAR_057630 Q8IWG1:p.Thr674Ala SP substitution exon 1 VAR_057631 Q8IWG1:p.Arg798His SP substitution exon 1 VAR_057633 Q3MJ13:p.Lys399Gln SP substitution exon 1 VAR_057634 Q3MJ13:p.Gln479His SP substitution exon 1 VAR_057635 Q5VTH9:p.Gly16Ala SP substitution exon 1 VAR_057636 Q5VTH9:p.Cys33Trp SP substitution exon 1 VAR_057638 Q6ZQQ6:p.His496Tyr SP substitution exon 1 VAR_057639 Q6ZQQ6:p.Arg1583Gln SP substitution exon 1 VAR_057640 Q6ZQQ6:p.Asn1885Lys SP substitution exon 1 VAR_057641 Q6ZQQ6:p.His2570Leu SP substitution exon 1 VAR_057642 P11532:p.Thr409Ser SP substitution exon 1 VAR_057643 P11532:p.Ala573Val SP substitution exon 1 VAR_057644 P11532:p.Thr715Ser SP substitution exon 1 VAR_057645 P11532:p.Thr1136Ser SP substitution exon 1 VAR_057646 P11532:p.Phe1388Val SP substitution exon 1 VAR_057647 P11532:p.Arg2108Cys SP substitution exon 1 VAR_057649 P60371:p.Val159Ile SP substitution exon 1 VAR_057650 Q3MIV0:p.Tyr29Cys SP substitution exon 1 VAR_057651 Q9HAY2:p.Lys93Arg SP substitution exon 1 VAR_057652 Q96PG2:p.Pro219Leu SP substitution exon 1 VAR_057653 Q9NXJ0:p.Ala10Asp SP substitution exon 1 VAR_057654 Q5J8X5:p.Pro58Leu SP substitution exon 1 VAR_057656 P08651:p.Ala417Ser SP substitution exon 1 VAR_057657 Q9NXX6:p.Ser72Thr SP substitution exon 1 VAR_057660 Q9Y6K5:p.Arg65Trp SP substitution exon 1 VAR_057661 Q9Y6K5:p.Ser381Arg SP substitution exon 1 VAR_057662 Q9Y6K5:p.Arg869His SP substitution exon 1 VAR_057663 Q9BZF3:p.Arg53Gln SP substitution exon 1 VAR_057664 O15547:p.Val38Gly SP substitution exon 1 VAR_057665 Q99572:p.Val76Ala SP substitution exon 1 VAR_057666 Q99572:p.Gly150Arg SP substitution exon 1 VAR_057667 Q99572:p.Arg270Cys SP substitution exon 1 VAR_057668 Q99572:p.Arg276His SP substitution exon 1 VAR_057669 Q99572:p.Arg307Gln SP substitution exon 1 VAR_057670 Q99572:p.Ala348Thr SP substitution exon 1 VAR_057671 Q99572:p.Pro430Arg SP substitution exon 1 VAR_057672 Q99572:p.Ala433Val SP substitution exon 1 VAR_057673 Q99572:p.His521Gln SP substitution exon 1 VAR_057674 Q99572:p.Val522Ile SP substitution exon 1 VAR_057675 Q99572:p.Arg578Gln SP substitution exon 1 VAR_057676 Q86XP0:p.Pro275Arg SP substitution exon 1 VAR_057677 Q86XP0:p.Ser434Thr SP substitution exon 1 VAR_057678 Q86XP0:p.Arg783Gln SP substitution exon 1 VAR_057679 Q86XP0:p.Arg807Gln SP substitution exon 1 VAR_057680 Q5H8A4:p.Ser55Tyr SP substitution exon 1 VAR_057698 Q92817:p.Tyr168Cys SP substitution exon 1 VAR_057700 A0PG75:p.Arg110Ser SP substitution exon 1 VAR_057701 Q9UL41:p.Gly382Ser SP substitution exon 1 VAR_057702 Q9UL41:p.Arg386Gln SP substitution exon 1 VAR_057703 Q14674:p.Ser614Arg SP substitution exon 1 VAR_057704 Q14674:p.Arg699Gln SP substitution exon 1 VAR_057705 Q14674:p.Ile1136Val SP substitution exon 1 VAR_057706 Q14674:p.Thr1157Ala SP substitution exon 1 VAR_057707 Q14674:p.Gln1237His SP substitution exon 1 VAR_057708 Q14674:p.Lys1435Met SP substitution exon 1 VAR_057709 Q12765:p.Ser189Asn SP substitution exon 1 VAR_057710 P59045:p.Pro438Leu SP substitution exon 1 VAR_057711 P33076:p.Val782Ala SP substitution exon 1 VAR_057712 P78509:p.Pro1703Arg SP substitution exon 1 VAR_057713 O95197:p.Asp501His SP substitution exon 1 VAR_057714 O15034:p.Pro593Arg SP substitution exon 1 VAR_057715 O15034:p.Asp888Asn SP substitution exon 1 VAR_057718 Q15398:p.Gln324His SP substitution exon 1 VAR_057719 Q15398:p.Thr469Ile SP substitution exon 1 VAR_057720 Q5H9R7:p.Ala842Val SP substitution exon 1 VAR_057721 Q7Z6J9:p.Ile137Leu SP substitution exon 1 VAR_057722 Q7Z6J9:p.Gly525Arg SP substitution exon 1 VAR_057724 Q9Y6L6:p.Asn151Ser SP substitution exon 1 VAR_057725 Q9Y6L6:p.Leu643Phe SP substitution exon 1 VAR_057727 Q8NFT2:p.Gly214Glu SP substitution exon 1 VAR_057729 Q8N3L3:p.Val348Met SP substitution exon 1 VAR_057730 Q8N3L3:p.Ile527Thr SP substitution exon 1 VAR_057731 Q8N3L3:p.Ala602Pro SP substitution exon 1 VAR_057732 Q96DX8:p.Thr79Ile SP substitution exon 1 VAR_057733 Q96DX8:p.Ser168Asn SP substitution exon 1 VAR_057734 Q5MIZ7:p.Ser293Thr SP substitution exon 1 VAR_057735 Q5JSZ5:p.Met417Val SP substitution exon 1 VAR_057738 Q9BWH6:p.Lys165Met SP substitution exon 1 VAR_057739 Q9BWH6:p.Arg429Gln SP substitution exon 1 VAR_057740 Q9BWH6:p.Arg582Gly SP substitution exon 1 VAR_057741 Q96QP1:p.His1008Pro SP substitution exon 1 VAR_057743 Q96L96:p.Glu1013Lys SP substitution exon 1 VAR_057744 Q96L96:p.Ala1137Gly SP substitution exon 1 VAR_057745 Q96L96:p.Ala1873Val SP substitution exon 1 VAR_057746 Q99575:p.Ser127Leu SP substitution exon 1 VAR_057747 Q99575:p.Glu460Ala SP substitution exon 1 VAR_057748 Q99575:p.Lys522Asn SP substitution exon 1 VAR_057749 Q99575:p.Leu994Val SP substitution exon 1 VAR_057750 Q7Z7G8:p.Pro1138Leu SP substitution exon 1 VAR_057751 Q7Z7G8:p.Val2584Ala SP substitution exon 1 VAR_057752 Q7Z7G8:p.Gly3432Arg SP substitution exon 1 VAR_057753 Q1HG43:p.Pro19Leu SP substitution exon 1 VAR_057756 Q5JTH9:p.Gly1145Ser SP substitution exon 1 VAR_057757 Q5JTH9:p.Arg1281Gln SP substitution exon 1 VAR_057758 Q96MC2:p.Val734Met SP substitution exon 1 VAR_057759 Q8IZU8:p.Thr832Ser SP substitution exon 1 VAR_057765 Q96B96:p.Phe97Leu SP substitution exon 1 VAR_057766 Q3YBM2:p.Gly40Glu SP substitution exon 1 VAR_057767 Q9NS40:p.Gly958Ala SP substitution exon 1 VAR_057769 Q14CZ7:p.Leu3Phe SP substitution exon 1 VAR_057770 Q9ULL8:p.Arg722His SP substitution exon 1 VAR_057771 Q9ULL8:p.Ile807Thr SP substitution exon 1 VAR_057772 Q96KN7:p.Pro96Gln SP substitution exon 1 VAR_057775 P21127:p.Arg93Trp SP substitution exon 1 VAR_057776 Q5H9M0:p.Gly95Asp SP substitution exon 1 VAR_057777 Q9P219:p.Leu637Val SP substitution exon 1 VAR_057778 Q86YD7:p.Ala234Glu SP substitution exon 1 VAR_057779 Q9BXS6:p.Thr33Ala SP substitution exon 1 VAR_057780 Q9BXS6:p.Thr33Asn SP substitution exon 1 VAR_057781 Q9NVC6:p.Phe357Leu SP substitution exon 1 VAR_057782 Q9NY47:p.Glu334Lys SP substitution exon 1 VAR_057783 Q6T423:p.Arg89Cys SP substitution exon 1 VAR_057784 Q6T423:p.Gly448Ala SP substitution exon 1 VAR_057785 Q66GS9:p.Ile769Leu SP substitution exon 1 VAR_057786 Q96M95:p.Thr51Pro SP substitution exon 1 VAR_057787 Q96M95:p.Arg75Cys SP substitution exon 1 VAR_057788 Q9NVR5:p.Glu62Asp SP substitution exon 1 VAR_057789 Q96C74:p.Ala113Val SP substitution exon 1 VAR_057791 Q9BSA4:p.Ala409Glu SP substitution exon 1 VAR_057792 Q9UHV7:p.Ala1370Pro SP substitution exon 1 VAR_057793 Q9UHV7:p.Ala1385Pro SP substitution exon 1 VAR_057794 A3KN83:p.Ser729Asn SP substitution exon 1 VAR_057795 Q96HR8:p.Pro43Ser SP substitution exon 1 VAR_057796 Q08AD1:p.Pro969Leu SP substitution exon 1 VAR_057797 Q08AD1:p.Pro1039Arg SP substitution exon 1 VAR_057798 Q9NW81:p.Arg9Cys SP substitution exon 1 VAR_057799 Q9NW81:p.His23Arg SP substitution exon 1 VAR_057800 Q9NW81:p.Asn34Ser SP substitution exon 1 VAR_057802 O60882:p.Thr281Asn SP substitution exon 1 VAR_057803 Q8N119:p.Ala311Thr SP substitution exon 1 VAR_057804 Q8N119:p.Arg360His SP substitution exon 1 VAR_057805 Q8N612:p.Arg462Trp SP substitution exon 1 VAR_057806 Q9NUP7:p.Ala48Val SP substitution exon 1 VAR_057808 Q9H9P8:p.Arg33Ser SP substitution exon 1 VAR_057809 Q9P2M7:p.Arg479Gln SP substitution exon 1 VAR_057810 Q9HCN3:p.Arg567Trp SP substitution exon 1 VAR_057812 Q9HCM3:p.Pro652Leu SP substitution exon 1 VAR_057813 Q9H7Z3:p.Cys32Phe SP substitution exon 1 VAR_057814 Q9Y2L5:p.Asn74Ser SP substitution exon 1 VAR_057815 Q9Y2L5:p.Gln708Glu SP substitution exon 1 VAR_057816 Q9Y2L5:p.Ile1189Val SP substitution exon 1 VAR_057817 O14524:p.Ile217Val SP substitution exon 1 VAR_057818 Q8N2N9:p.Glu496Asp SP substitution exon 1 VAR_057819 Q9H6W3:p.Phe218Ser SP substitution exon 1 VAR_057820 P56945:p.Arg491Leu SP substitution exon 1 VAR_057821 P56945:p.His558Arg SP substitution exon 1 VAR_057822 Q8N9Y4:p.Leu162Met SP substitution exon 1 VAR_057823 Q9NX78:p.Ala245Ser SP substitution exon 1 VAR_057824 Q9NX78:p.Ser565Asn SP substitution exon 1 VAR_057825 Q2M389:p.Thr599Ser SP substitution exon 1 VAR_057826 Q9Y5U2:p.His17Pro SP substitution exon 1 VAR_057827 Q9Y5U2:p.Arg230Ser SP substitution exon 1 VAR_057828 Q9Y5U2:p.Gly262Arg SP substitution exon 1 VAR_057829 Q8IYL3:p.Pro165Ala SP substitution exon 1 VAR_057831 Q8IX90:p.Val58Ile SP substitution exon 1 VAR_057833 P40259:p.Gly137Ser SP substitution exon 1 VAR_057834 O75923:p.Trp52Arg SP substitution exon 1 VAR_057835 O75923:p.Val67Asp SP substitution exon 1 VAR_057836 O75923:p.Ala84Val SP substitution exon 1 VAR_057837 O75923:p.Gly155Arg SP substitution exon 1 VAR_057838 O75923:p.Gly234Glu SP substitution exon 1 VAR_057839 O75923:p.Ile284Thr SP substitution exon 1 VAR_057840 O75923:p.Gly299Arg SP substitution exon 1 VAR_057841 O75923:p.Gly299Trp SP substitution exon 1 VAR_057842 O75923:p.Gly335Ala SP substitution exon 1 VAR_057843 O75923:p.Ser340Arg SP substitution exon 1 VAR_057844 O75923:p.Val374Leu SP substitution exon 1 VAR_057846 O75923:p.Glu389Gln SP substitution exon 1 VAR_057847 O75923:p.Asp390Asn SP substitution exon 1 VAR_057848 O75923:p.Gly426Arg SP substitution exon 1 VAR_057849 O75923:p.Gly426Val SP substitution exon 1 VAR_057850 O75923:p.Gly519Arg SP substitution exon 1 VAR_057851 O75923:p.Gly618Arg SP substitution exon 1 VAR_057852 O75923:p.Gly621Arg SP substitution exon 1 VAR_057853 O75923:p.Asp625Tyr SP substitution exon 1 VAR_057854 O75923:p.Pro731Arg SP substitution exon 1 VAR_057855 O75923:p.Arg819Gln SP substitution exon 1 VAR_057856 O75923:p.Trp930Cys SP substitution exon 1 VAR_057857 O75923:p.Trp999Cys SP substitution exon 1 VAR_057858 O75923:p.Pro1029Leu SP substitution exon 1 VAR_057859 O75923:p.Arg1041Cys SP substitution exon 1 VAR_057860 O75923:p.Leu1228Pro SP substitution exon 1 VAR_057861 O75923:p.Ile1325Val SP substitution exon 1 VAR_057862 O75923:p.Leu1341Pro SP substitution exon 1 VAR_057863 O75923:p.Cys1361Arg SP substitution exon 1 VAR_057864 O75923:p.Tyr1505Cys SP substitution exon 1 VAR_057865 O75923:p.Lys1526Thr SP substitution exon 1 VAR_057866 O75923:p.Gly1543Asp SP substitution exon 1 VAR_057867 O75923:p.Arg1581His SP substitution exon 1 VAR_057868 O75923:p.Thr1662Arg SP substitution exon 1 VAR_057869 O75923:p.Cys1678Ser SP substitution exon 1 VAR_057870 O75923:p.Gly1679Glu SP substitution exon 1 VAR_057871 O75923:p.Arg1693Trp SP substitution exon 1 VAR_057872 O75923:p.Glu1734Gly SP substitution exon 1 VAR_057873 O75923:p.Arg1768Trp SP substitution exon 1 VAR_057874 O75923:p.Asp1837Asn SP substitution exon 1 VAR_057875 O75923:p.Gly1842Asp SP substitution exon 1 VAR_057876 O75923:p.Leu1922Pro SP substitution exon 1 VAR_057878 O75923:p.Cys1942Gly SP substitution exon 1 VAR_057879 O75923:p.Gly1967Ser SP substitution exon 1 VAR_057880 O75923:p.Pro1970Ser SP substitution exon 1 VAR_057881 O75923:p.Pro2068Leu SP substitution exon 1 VAR_057882 Q6B0I6:p.Ser355Arg SP substitution exon 1 VAR_057883 Q6B0I6:p.Ala471Ser SP substitution exon 1 VAR_057886 P51788:p.Pro48Arg SP substitution exon 1 VAR_057887 P51788:p.Arg68His SP substitution exon 1 VAR_057888 P51788:p.Gly199Ala SP substitution exon 1 VAR_057889 P51788:p.Arg235Gln SP substitution exon 1 VAR_057890 P51788:p.Arg577Gln SP substitution exon 1 VAR_057891 P51788:p.Arg644Cys SP substitution exon 1 VAR_057892 P51788:p.Arg646Gln SP substitution exon 1 VAR_057893 P51788:p.Arg725Trp SP substitution exon 1 VAR_057894 P51788:p.Arg747His SP substitution exon 1 VAR_057895 Q6EMB2:p.Ala149Val SP substitution exon 1 VAR_057896 Q6EMB2:p.Glu203Asp SP substitution exon 1 VAR_057897 Q6EMB2:p.Ala592Thr SP substitution exon 1 VAR_057898 Q6EMB2:p.Ala1223Ser SP substitution exon 1 VAR_057899 Q6EMB2:p.Pro1231Thr SP substitution exon 1 VAR_057900 Q6EMB2:p.Phe1267Ser SP substitution exon 1 VAR_057901 Q9H267:p.Ser243Phe SP substitution exon 1 VAR_057902 P20908:p.Leu25Pro SP substitution exon 1 VAR_057903 P20908:p.Leu25Arg SP substitution exon 1 VAR_057904 P20908:p.Ala114Asp SP substitution exon 1 VAR_057905 P20908:p.Asp192Asn SP substitution exon 1 VAR_057906 P20908:p.Asp229Asn SP substitution exon 1 VAR_057907 P20908:p.Pro393Ser SP substitution exon 1 VAR_057908 P20908:p.Asn951Ser SP substitution exon 1 VAR_057909 P20908:p.Gly1486Cys SP substitution exon 1 VAR_057910 P05997:p.Val512Ala SP substitution exon 1 VAR_057911 P05997:p.Pro833Leu SP substitution exon 1 VAR_057912 P05997:p.Thr1230Ser SP substitution exon 1 VAR_057913 P05997:p.Asp1432Val SP substitution exon 1 VAR_057914 P06858:p.Asn70Ser SP substitution exon 1 VAR_057915 P06858:p.Val96Leu SP substitution exon 1 VAR_057916 P06858:p.Ala98Thr SP substitution exon 1 VAR_057917 P06858:p.Thr128Ala SP substitution exon 1 VAR_057918 P06858:p.Gly132Arg SP substitution exon 1 VAR_057919 P06858:p.Gly181Val SP substitution exon 1 VAR_057920 P06858:p.Asp183His SP substitution exon 1 VAR_057921 P06858:p.Gly186Glu SP substitution exon 1 VAR_057922 P06858:p.Glu190Gly SP substitution exon 1 VAR_057923 P06858:p.Asp201Val SP substitution exon 1 VAR_057924 P06858:p.Val208Ile SP substitution exon 1 VAR_057925 P06858:p.His210Asp SP substitution exon 1 VAR_057926 P06858:p.Gly215Arg SP substitution exon 1 VAR_057927 P06858:p.Lys225Arg SP substitution exon 1 VAR_057928 P06858:p.Val227Ala SP substitution exon 1 VAR_057929 P06858:p.Ile252Thr SP substitution exon 1 VAR_057930 P06858:p.Cys266Trp SP substitution exon 1 VAR_057931 P06858:p.Arg270Cys SP substitution exon 1 VAR_057932 P06858:p.Leu279Arg SP substitution exon 1 VAR_057933 P06858:p.Leu279Val SP substitution exon 1 VAR_057934 P06858:p.Tyr289His SP substitution exon 1 VAR_057935 P06858:p.Phe297Leu SP substitution exon 1 VAR_057936 P06858:p.Leu303Phe SP substitution exon 1 VAR_057937 P06858:p.Cys305Arg SP substitution exon 1 VAR_057938 P06858:p.Cys310Tyr SP substitution exon 1 VAR_057939 P06858:p.Leu313Pro SP substitution exon 1 VAR_057940 P06858:p.Ser325Arg SP substitution exon 1 VAR_057941 P06858:p.Met328Arg SP substitution exon 1 VAR_057942 P06858:p.Leu330Phe SP substitution exon 1 VAR_057943 P06858:p.Ser365Phe SP substitution exon 1 VAR_057944 P06858:p.Cys445Tyr SP substitution exon 1 VAR_057945 P06858:p.Glu448Lys SP substitution exon 1 VAR_057946 Q8NCD3:p.Glu76Lys SP substitution exon 1 VAR_057947 Q8NCD3:p.Arg199Gly SP substitution exon 1 VAR_057948 Q8NCD3:p.Ser295Cys SP substitution exon 1 VAR_057949 Q8NCD3:p.Glu723Gly SP substitution exon 1 VAR_057950 Q96M32:p.Asn389Lys SP substitution exon 1 VAR_057951 P41252:p.Met769Ile SP substitution exon 1 VAR_057953 Q8WTS1:p.His82Arg SP substitution exon 1 VAR_057954 Q8WTS1:p.Ser115Gly SP substitution exon 1 VAR_057955 O75096:p.Ile1086Val SP substitution exon 1 VAR_057956 O75096:p.Ser1554Gly SP substitution exon 1 VAR_057957 O75096:p.Arg1646Gln SP substitution exon 1 VAR_057958 O94923:p.Val597Ile SP substitution exon 1 VAR_057959 P29033:p.Lys168Arg SP substitution exon 1 VAR_057960 O95452:p.Gly59Arg SP substitution exon 1 VAR_057961 O43490:p.Arg373Cys SP substitution exon 1 VAR_057962 P55075:p.His14Asn SP substitution exon 1 VAR_057963 P55075:p.Pro26Leu SP substitution exon 1 VAR_057964 P55075:p.Phe40Leu SP substitution exon 1 VAR_057965 P55075:p.Lys89Glu SP substitution exon 1 VAR_057966 P55075:p.Arg116Gly SP substitution exon 1 VAR_057968 Q96LP2:p.Arg150Gly SP substitution exon 1 VAR_057969 Q96LP2:p.Ala187Val SP substitution exon 1 VAR_057970 Q96LP2:p.Arg239Gln SP substitution exon 1 VAR_057971 Q96LP2:p.Pro275Ser SP substitution exon 1 VAR_057972 Q96NJ3:p.Asn208Ser SP substitution exon 1 VAR_057973 Q96NJ3:p.Arg536Gly SP substitution exon 1 VAR_057974 Q96SK3:p.Ser2Ala SP substitution exon 1 VAR_057975 Q96SK3:p.Arg70His SP substitution exon 1 VAR_057976 Q96SK3:p.Phe123Leu SP substitution exon 1 VAR_057977 Q96SK3:p.Ser375Thr SP substitution exon 1 VAR_057978 Q96SK3:p.Ala653Pro SP substitution exon 1 VAR_057979 Q13510:p.Ala70Val SP substitution exon 1 VAR_057980 Q13510:p.Val88Met SP substitution exon 1 VAR_057981 Q9UGM3:p.Gly162Glu SP substitution exon 1 VAR_057982 Q9UGM3:p.Asn546Ser SP substitution exon 1 VAR_057983 Q9UGM3:p.Ser1095Pro SP substitution exon 1 VAR_057984 Q9UGM3:p.Ser1102Thr SP substitution exon 1 VAR_057985 Q9UGM3:p.Arg1434Trp SP substitution exon 1 VAR_057986 Q9UGM3:p.Val2255Met SP substitution exon 1 VAR_057987 P18577:p.Arg263Gly SP substitution exon 1 VAR_057988 P18577:p.Met267Lys SP substitution exon 1 VAR_057989 P18577:p.Val398Glu SP substitution exon 1 VAR_057990 P30530:p.Asn266Asp SP substitution exon 1 VAR_057992 Q6UX73:p.Gly215Ala SP substitution exon 1 VAR_057993 Q9GZS9:p.Ala311Thr SP substitution exon 1 VAR_057994 Q9UPZ9:p.Arg272Gln SP substitution exon 1 VAR_057995 P35498:p.Arg946Ser SP substitution exon 1 VAR_057996 P35498:p.Gln1489His SP substitution exon 1 VAR_057997 P35498:p.Phe1499Leu SP substitution exon 1 VAR_057998 P35498:p.Asp1742Gly SP substitution exon 1 VAR_057999 P35498:p.Val1857Leu SP substitution exon 1 VAR_058000 P35498:p.Asp1866Tyr SP substitution exon 1 VAR_058001 Q9P2J8:p.Lys135Asn SP substitution exon 1 VAR_058002 Q9H6S0:p.Ser652Asn SP substitution exon 1 VAR_058005 P36551:p.Gly279Arg SP substitution exon 1 VAR_058007 P35270:p.Arg150Gly SP substitution exon 1 VAR_058008 P35270:p.Pro163Leu SP substitution exon 1 VAR_058009 Q9H9E3:p.Thr158Ile SP substitution exon 1 VAR_058010 P20591:p.Val379Ile SP substitution exon 1 VAR_058011 P21754:p.Gly31Arg SP substitution exon 1 VAR_058012 P21754:p.Ser315Pro SP substitution exon 1 VAR_058014 P21815:p.Gly195Glu SP substitution exon 1 VAR_058015 P21815:p.Asp213Gly SP substitution exon 1 VAR_058016 P21815:p.Arg219Gly SP substitution exon 1 VAR_058017 P21815:p.Glu270Asp SP substitution exon 1 VAR_058018 Q9P0G3:p.Gln33Arg SP substitution exon 1 VAR_058019 Q9P0G3:p.His45Tyr SP substitution exon 1 VAR_058020 Q9P0G3:p.Arg64His SP substitution exon 1 VAR_058022 O76039:p.Ala40Val SP substitution exon 1 VAR_058023 O76039:p.Ile72Asn SP substitution exon 1 VAR_058024 O76039:p.Ile72Thr SP substitution exon 1 VAR_058025 O76039:p.His127Arg SP substitution exon 1 VAR_058026 O76039:p.Arg178Pro SP substitution exon 1 VAR_058027 O76039:p.Leu220Pro SP substitution exon 1 VAR_058028 O76039:p.Thr288Ile SP substitution exon 1 VAR_058029 O76039:p.Cys291Tyr SP substitution exon 1 VAR_058030 O76039:p.Asn399Thr SP substitution exon 1 VAR_058031 O76039:p.Arg444Cys SP substitution exon 1 VAR_058032 O76039:p.Val718Met SP substitution exon 1 VAR_058033 O76039:p.Arg923Cys SP substitution exon 1 VAR_058035 P02730:p.Pro27His SP substitution exon 1 VAR_058036 P02730:p.Glu72Asp SP substitution exon 1 VAR_058037 P02730:p.Glu429Asp SP substitution exon 1 VAR_058038 P02730:p.Gly455Arg SP substitution exon 1 VAR_058039 P02730:p.Arg490His SP substitution exon 1 VAR_058044 O75603:p.Arg47Leu SP substitution exon 1 VAR_058045 O75603:p.Gly63Ser SP substitution exon 1 VAR_058046 P41180:p.Leu11Ser SP substitution exon 1 VAR_058047 P41180:p.Leu13Pro SP substitution exon 1 VAR_058048 P41180:p.Thr14Ala SP substitution exon 1 VAR_058049 P41180:p.Gly21Arg SP substitution exon 1 VAR_058050 P41180:p.Lys47Asn SP substitution exon 1 VAR_058051 P41180:p.Asn118Lys SP substitution exon 1 VAR_058052 P41180:p.Leu125Pro SP substitution exon 1 VAR_058053 P41180:p.Phe128Leu SP substitution exon 1 VAR_058054 P41180:p.Cys131Trp SP substitution exon 1 VAR_058055 P41180:p.Thr151Met SP substitution exon 1 VAR_058056 P41180:p.Ser171Asn SP substitution exon 1 VAR_058057 P41180:p.Phe180Cys SP substitution exon 1 VAR_058058 P41180:p.Glu191Lys SP substitution exon 1 VAR_058059 P41180:p.Pro221Gln SP substitution exon 1 VAR_058060 P41180:p.Lys225Thr SP substitution exon 1 VAR_058061 P41180:p.Glu250Lys SP substitution exon 1 VAR_058062 P41180:p.Ser271Phe SP substitution exon 1 VAR_058063 P41180:p.Gly397Arg SP substitution exon 1 VAR_058064 P41180:p.Arg465Gln SP substitution exon 1 VAR_058065 P41180:p.Gly509Arg SP substitution exon 1 VAR_058066 P41180:p.Gly553Arg SP substitution exon 1 VAR_058067 P41180:p.Ile555Val SP substitution exon 1 VAR_058068 P41180:p.Cys562Tyr SP substitution exon 1 VAR_058069 P41180:p.Cys582Phe SP substitution exon 1 VAR_058070 P41180:p.Glu604Lys SP substitution exon 1 VAR_058071 P41180:p.Phe612Ser SP substitution exon 1 VAR_058072 P41180:p.Gly623Asp SP substitution exon 1 VAR_058073 P41180:p.Gly670Glu SP substitution exon 1 VAR_058074 P41180:p.Gly670Arg SP substitution exon 1 VAR_058075 P41180:p.Leu727Gln SP substitution exon 1 VAR_058076 P41180:p.Val728Phe SP substitution exon 1 VAR_058077 P41180:p.Trp742Arg SP substitution exon 1 VAR_058078 P41180:p.Leu773Arg SP substitution exon 1 VAR_058079 P41180:p.Phe788Cys SP substitution exon 1 VAR_058080 P41180:p.Phe788Leu SP substitution exon 1 VAR_058081 P41180:p.Ser820Phe SP substitution exon 1 VAR_058082 P41180:p.Ala843Glu SP substitution exon 1 VAR_058083 P41180:p.Phe881Leu SP substitution exon 1 VAR_058084 P41180:p.Arg886Trp SP substitution exon 1 VAR_058085 Q96BR9:p.Gly418Ala SP substitution exon 1 VAR_058086 Q8IV16:p.Gln115Pro SP substitution exon 1 VAR_058088 O43556:p.Asn49Ser SP substitution exon 1 VAR_058089 O43556:p.Pro399His SP substitution exon 1 VAR_058091 P26378:p.Asp166Gly SP substitution exon 1 VAR_058092 P26378:p.Ala356Thr SP substitution exon 1 VAR_058093 Q96DW6:p.Gly130Glu SP substitution exon 1 VAR_058094 Q96DW6:p.Arg134His SP substitution exon 1 VAR_058095 Q96DW6:p.Arg187Pro SP substitution exon 1 VAR_058096 Q96DW6:p.Asp209His SP substitution exon 1 VAR_058097 A6NFY7:p.Arg55Pro SP substitution exon 1 VAR_058098 A6NFY7:p.Gly57Arg SP substitution exon 1 VAR_058099 P16452:p.Asp145Tyr SP substitution exon 1 VAR_058100 P16452:p.Arg287Cys SP substitution exon 1 VAR_058101 Q96KJ9:p.Glu138Lys SP substitution exon 1 VAR_058102 Q14353:p.Trp20Ser SP substitution exon 1 VAR_058103 Q14353:p.Met50Leu SP substitution exon 1 VAR_058104 Q14353:p.His51Pro SP substitution exon 1 VAR_058105 Q14353:p.Ala54Pro SP substitution exon 1 VAR_058106 Q14353:p.Cys169Tyr SP substitution exon 1 VAR_058107 Q14353:p.Leu197Pro SP substitution exon 1 VAR_058108 Q13351:p.His299Tyr SP substitution exon 1 VAR_058109 Q13351:p.Arg328His SP substitution exon 1 VAR_058110 Q13351:p.Arg328Leu SP substitution exon 1 VAR_058111 Q13351:p.Arg331Gly SP substitution exon 1 VAR_058112 Q9HAY6:p.Thr170Met SP substitution exon 1 VAR_058113 P78337:p.Glu130Lys SP substitution exon 1 VAR_058114 Q96RL7:p.Phe565Leu SP substitution exon 1 VAR_058115 Q96RL7:p.Val898Ala SP substitution exon 1 VAR_058116 Q96RL7:p.Ala1095Pro SP substitution exon 1 VAR_058117 Q96RL7:p.Arg1490Lys SP substitution exon 1 VAR_058118 Q96RL7:p.Tyr1587Cys SP substitution exon 1 VAR_058119 Q96RL7:p.Val1973Ile SP substitution exon 1 VAR_058120 Q96RL7:p.Trp2460Arg SP substitution exon 1 VAR_058121 Q96RL7:p.Ile2486Thr SP substitution exon 1 VAR_058122 Q96RL7:p.Pro3172Leu SP substitution exon 1 VAR_058123 P14543:p.Ser60Arg SP substitution exon 1 VAR_058124 P14543:p.Gln807His SP substitution exon 1 VAR_058125 P14543:p.Gln1246Arg SP substitution exon 1 VAR_058128 O95072:p.Val411Phe SP substitution exon 1 VAR_058129 P14653:p.Glu265Gly SP substitution exon 1 VAR_058130 Q6N021:p.Arg123His SP substitution exon 1 VAR_058131 Q6N021:p.Ala308Thr SP substitution exon 1 VAR_058132 Q6N021:p.Gly355Asp SP substitution exon 1 VAR_058133 Q6N021:p.Pro399Leu SP substitution exon 1 VAR_058134 Q6N021:p.Gly429Arg SP substitution exon 1 VAR_058135 Q6N021:p.Ser817Thr SP substitution exon 1 VAR_058136 Q6N021:p.His924Arg SP substitution exon 1 VAR_058137 Q6N021:p.His949Arg SP substitution exon 1 VAR_058138 Q6N021:p.Arg1167Thr SP substitution exon 1 VAR_058171 Q6N021:p.Leu34Phe SP substitution exon 1 VAR_058172 Q6N021:p.Ser145Asn SP substitution exon 1 VAR_058173 Q6N021:p.Pro174His SP substitution exon 1 VAR_058174 Q6N021:p.Asn312Ser SP substitution exon 1 VAR_058175 Q6N021:p.Ser460Phe SP substitution exon 1 VAR_058176 Q6N021:p.Asp666Gly SP substitution exon 1 VAR_058177 Q6N021:p.Tyr867His SP substitution exon 1 VAR_058178 Q6N021:p.Pro941Ser SP substitution exon 1 VAR_058179 Q6N021:p.Glu1073Val SP substitution exon 1 VAR_058180 Q6N021:p.Gln1084Pro SP substitution exon 1 VAR_058181 Q6N021:p.Cys1135Tyr SP substitution exon 1 VAR_058199 P02787:p.Ile448Val SP substitution exon 1 VAR_058200 P04053:p.Arg112Gly SP substitution exon 1 VAR_058201 O75051:p.Glu369Gly SP substitution exon 1 VAR_058202 P13645:p.Ile101Ser SP substitution exon 1 VAR_058203 P06127:p.Ala471Val SP substitution exon 1 VAR_058204 P09629:p.Thr9Ala SP substitution exon 1 VAR_058205 Q96DR7:p.Leu60Pro SP substitution exon 1 VAR_058206 P51522:p.Thr70Ile SP substitution exon 1 VAR_058207 P51522:p.Ser96Asn SP substitution exon 1 VAR_058208 P51522:p.Thr119Met SP substitution exon 1 VAR_058209 P51522:p.His392Arg SP substitution exon 1 VAR_058210 Q96NT5:p.Arg113Cys SP substitution exon 1 VAR_058211 P05062:p.Cys178Arg SP substitution exon 1 VAR_058212 P05062:p.Leu284Pro SP substitution exon 1 VAR_058213 P12109:p.Ser116Asn SP substitution exon 1 VAR_058214 P12109:p.Gly272Asp SP substitution exon 1 VAR_058215 P12109:p.Pro274Leu SP substitution exon 1 VAR_058216 P12109:p.Gly275Arg SP substitution exon 1 VAR_058217 P12109:p.Gly281Arg SP substitution exon 1 VAR_058218 P12109:p.Gly284Arg SP substitution exon 1 VAR_058219 P12109:p.Gly290Arg SP substitution exon 1 VAR_058220 P12109:p.Gly332Ser SP substitution exon 1 VAR_058221 P12109:p.Gly341Val SP substitution exon 1 VAR_058222 P12109:p.Lys571Thr SP substitution exon 1 VAR_058223 P12109:p.Thr881Met SP substitution exon 1 VAR_058224 P12109:p.Ser890Leu SP substitution exon 1 VAR_058225 P12110:p.Glu106Lys SP substitution exon 1 VAR_058226 P12110:p.Gly283Arg SP substitution exon 1 VAR_058227 P12110:p.Arg489Gln SP substitution exon 1 VAR_058228 P12110:p.Arg498His SP substitution exon 1 VAR_058229 P12110:p.Pro518Ser SP substitution exon 1 VAR_058230 P12110:p.Gly531Arg SP substitution exon 1 VAR_058231 P12110:p.Gly700Ser SP substitution exon 1 VAR_058232 P12110:p.Arg724Cys SP substitution exon 1 VAR_058233 P12110:p.Cys777Arg SP substitution exon 1 VAR_058234 P12110:p.Arg784His SP substitution exon 1 VAR_058235 P12110:p.Val804Gly SP substitution exon 1 VAR_058236 P12110:p.Leu837Pro SP substitution exon 1 VAR_058237 P12110:p.Arg853Gln SP substitution exon 1 VAR_058238 P12110:p.Arg876Ser SP substitution exon 1 VAR_058239 P12110:p.Ser895Arg SP substitution exon 1 VAR_058241 P12110:p.Pro932Leu SP substitution exon 1 VAR_058242 P12111:p.Leu411Val SP substitution exon 1 VAR_058243 P12111:p.Asp491His SP substitution exon 1 VAR_058244 P12111:p.Thr492Ser SP substitution exon 1 VAR_058245 P12111:p.Arg677His SP substitution exon 1 VAR_058246 P12111:p.Ala807Thr SP substitution exon 1 VAR_058247 P12111:p.Ala830Ser SP substitution exon 1 VAR_058248 P12111:p.Lys1014Glu SP substitution exon 1 VAR_058249 P12111:p.Arg1064Gln SP substitution exon 1 VAR_058250 P12111:p.Glu1386Lys SP substitution exon 1 VAR_058251 P12111:p.Arg1395Gln SP substitution exon 1 VAR_058252 P12111:p.Asn1467Asp SP substitution exon 1 VAR_058253 P12111:p.Arg1576Gln SP substitution exon 1 VAR_058254 P12111:p.Arg1632Gln SP substitution exon 1 VAR_058255 P12111:p.Asp1674Asn SP substitution exon 1 VAR_058256 P12111:p.Pro1687Ser SP substitution exon 1 VAR_058257 P12111:p.Leu1726Arg SP substitution exon 1 VAR_058258 P12111:p.Val1985Met SP substitution exon 1 VAR_058259 P12111:p.Gly2047Asp SP substitution exon 1 VAR_058260 P12111:p.Gly2056Arg SP substitution exon 1 VAR_058261 P12111:p.Gly2080Asp SP substitution exon 1 VAR_058262 P12111:p.Asp2431Val SP substitution exon 1 VAR_058263 P12111:p.Glu2453Lys SP substitution exon 1 VAR_058264 P12111:p.Ala2941Val SP substitution exon 1 VAR_058265 Q03393:p.Leu26Phe SP substitution exon 1 VAR_058266 Q03393:p.Val97Met SP substitution exon 1 VAR_058267 Q03393:p.Tyr99Cys SP substitution exon 1 VAR_058268 Q03393:p.Val124Leu SP substitution exon 1 VAR_058269 Q03393:p.Asp136Gly SP substitution exon 1 VAR_058272 Q9Y3C5:p.Asp11Glu SP substitution exon 1 VAR_058273 O76090:p.Ile3Thr SP substitution exon 1 VAR_058274 O76090:p.Val86Met SP substitution exon 1 VAR_058275 O76090:p.Tyr236Cys SP substitution exon 1 VAR_058276 O76090:p.Val239Met SP substitution exon 1 VAR_058277 O76090:p.Val242Met SP substitution exon 1 VAR_058285 Q13546:p.Ala438Val SP substitution exon 1 VAR_058286 Q9NYQ8:p.Leu1295Pro SP substitution exon 1 VAR_058290 O75096:p.Leu314Ser SP substitution exon 1 VAR_058291 O75096:p.Ala1203Val SP substitution exon 1 VAR_058292 O75096:p.Ala1238Thr SP substitution exon 1 VAR_058293 P35908:p.Ser101Gly SP substitution exon 1 VAR_058294 P35908:p.Gly219Asp SP substitution exon 1 VAR_058296 Q00887:p.Ala176Thr SP substitution exon 1 VAR_058298 Q9Y6F6:p.Gln334His SP substitution exon 1 VAR_058299 Q567V2:p.Met72Val SP substitution exon 1 VAR_058300 P41252:p.Thr684Met SP substitution exon 1 VAR_058301 Q96JM2:p.Met404Val SP substitution exon 1 VAR_058302 Q96JM2:p.Pro1187Ser SP substitution exon 1 VAR_058303 Q96JM2:p.Asn1828Ser SP substitution exon 1 VAR_058304 Q96JM2:p.Lys2052Arg SP substitution exon 1 VAR_058305 Q96JM2:p.His2452Leu SP substitution exon 1 VAR_058306 Q96SK3:p.Arg433His SP substitution exon 1 VAR_058307 Q96SK3:p.Lys531Arg SP substitution exon 1 VAR_058308 O95425:p.Val422Ile SP substitution exon 1 VAR_058310 Q14005:p.Pro434Ser SP substitution exon 1 VAR_058313 O76090:p.Gly299Ala SP substitution exon 1 VAR_058314 P12644:p.Thr102Ala SP substitution exon 1 VAR_058315 P12644:p.Arg162Gln SP substitution exon 1 VAR_058316 P12644:p.Gly168Ala SP substitution exon 1 VAR_058317 P12644:p.Arg287His SP substitution exon 1 VAR_058318 P12644:p.Ala346Val SP substitution exon 1 VAR_058319 Q6P4Q7:p.Ser196Pro SP substitution exon 1 VAR_058320 Q6P4Q7:p.Ser200Tyr SP substitution exon 1 VAR_058321 Q6P4Q7:p.Arg236Gln SP substitution exon 1 VAR_058322 Q6P4Q7:p.Leu324Pro SP substitution exon 1 VAR_058323 Q9UQ03:p.Leu238Val SP substitution exon 1 VAR_058324 P15812:p.His102Arg SP substitution exon 1 VAR_058325 P15812:p.Ser149Asn SP substitution exon 1 VAR_058326 Q9Y2P7:p.Phe304Ile SP substitution exon 1 VAR_058327 O14530:p.Glu2Gly SP substitution exon 1 VAR_058328 O14530:p.Leu14Gln SP substitution exon 1 VAR_058329 O14530:p.Gln38Arg SP substitution exon 1 VAR_058330 Q8IX12:p.Thr588Ile SP substitution exon 1 VAR_058331 Q8IX12:p.Glu681Gly SP substitution exon 1 VAR_058332 Q8IX12:p.Met747Val SP substitution exon 1 VAR_058333 Q66PJ3:p.Lys225Arg SP substitution exon 1 VAR_058334 Q09013:p.Leu423Val SP substitution exon 1 VAR_058335 Q32MK0:p.Ser70Thr SP substitution exon 1 VAR_058336 Q32MK0:p.Val180Leu SP substitution exon 1 VAR_058337 P00966:p.Gln40Leu SP substitution exon 1 VAR_058338 P00966:p.Ser79Pro SP substitution exon 1 VAR_058339 P00966:p.Pro96His SP substitution exon 1 VAR_058340 P00966:p.Asp124Asn SP substitution exon 1 VAR_058341 P00966:p.Arg127Gln SP substitution exon 1 VAR_058342 P00966:p.Arg127Trp SP substitution exon 1 VAR_058343 P00966:p.Leu160Pro SP substitution exon 1 VAR_058344 P00966:p.Tyr190Asp SP substitution exon 1 VAR_058345 P00966:p.Glu191Gln SP substitution exon 1 VAR_058346 P00966:p.Ala202Glu SP substitution exon 1 VAR_058347 P00966:p.Leu206Pro SP substitution exon 1 VAR_058348 P00966:p.Val263Met SP substitution exon 1 VAR_058349 P00966:p.Arg265Cys SP substitution exon 1 VAR_058350 P00966:p.Lys277Thr SP substitution exon 1 VAR_058351 P00966:p.Thr284Ile SP substitution exon 1 VAR_058352 P00966:p.Tyr291Ser SP substitution exon 1 VAR_058353 P00966:p.Asp296Gly SP substitution exon 1 VAR_058354 P00966:p.Met302Val SP substitution exon 1 VAR_058355 P00966:p.Arg307Cys SP substitution exon 1 VAR_058356 P00966:p.Gly324Val SP substitution exon 1 VAR_058357 P00966:p.Ser341Phe SP substitution exon 1 VAR_058358 P00966:p.Val345Gly SP substitution exon 1 VAR_058359 P00966:p.Gly347Arg SP substitution exon 1 VAR_058360 P00966:p.Tyr359Asp SP substitution exon 1 VAR_058361 O75095:p.Ser131Gly SP substitution exon 1 VAR_058362 O75095:p.Arg916Leu SP substitution exon 1 VAR_058363 O75095:p.Gly1137Ala SP substitution exon 1 VAR_058364 P35556:p.Gly754Ser SP substitution exon 1 VAR_058365 P35556:p.Asn1091Ser SP substitution exon 1 VAR_058366 P35556:p.Ser1122Pro SP substitution exon 1 VAR_058367 P35556:p.Cys1142Arg SP substitution exon 1 VAR_058368 P35556:p.Tyr1146Cys SP substitution exon 1 VAR_058369 P35556:p.Cys1156Phe SP substitution exon 1 VAR_058370 P35556:p.Glu1161Lys SP substitution exon 1 VAR_058371 P35556:p.Cys1246Phe SP substitution exon 1 VAR_058372 P35556:p.Cys1384Phe SP substitution exon 1 VAR_058373 P35556:p.Cys1384Tyr SP substitution exon 1 VAR_058374 P35556:p.Asp1408Asn SP substitution exon 1 VAR_058375 P35556:p.Cys1425Arg SP substitution exon 1 VAR_058376 O43933:p.Leu590Arg SP substitution exon 1 VAR_058377 O43933:p.Gly593Arg SP substitution exon 1 VAR_058378 O43933:p.Arg798Gly SP substitution exon 1 VAR_058379 O43933:p.Arg948Gln SP substitution exon 1 VAR_058381 Q13608:p.Ala79Pro SP substitution exon 1 VAR_058382 Q13608:p.Pro274Leu SP substitution exon 1 VAR_058383 Q13608:p.Arg601Gln SP substitution exon 1 VAR_058384 Q13608:p.Asn849Thr SP substitution exon 1 VAR_058385 Q13608:p.Arg860Gln SP substitution exon 1 VAR_058386 Q13608:p.Arg860Trp SP substitution exon 1 VAR_058387 Q13608:p.Ala924Ser SP substitution exon 1 VAR_058388 O60683:p.Thr274Ala SP substitution exon 1 VAR_058389 O00623:p.Arg34Ser SP substitution exon 1 VAR_058392 Q13155:p.Ile92Val SP substitution exon 1 VAR_058394 Q13155:p.Gly209Ser SP substitution exon 1 VAR_058395 P06213:p.Ala2Gly SP substitution exon 1 VAR_058396 P06213:p.Tyr171His SP substitution exon 1 VAR_058397 Q9Y592:p.Gln70Arg SP substitution exon 1 VAR_058398 P08637:p.Gly147Asp SP substitution exon 1 VAR_058399 P08637:p.Tyr158His SP substitution exon 1 VAR_058400 P08637:p.Phe203Ser SP substitution exon 1 VAR_058401 Q13131:p.Met10Leu SP substitution exon 1 VAR_058402 O75170:p.Asp633Glu SP substitution exon 1 VAR_058403 O75170:p.Arg732Lys SP substitution exon 1 VAR_058404 O00203:p.Val585Glu SP substitution exon 1 VAR_058405 O00418:p.Gln361Arg SP substitution exon 1 VAR_058406 O00472:p.Ala298Thr SP substitution exon 1 VAR_058408 O00212:p.Cys134Arg SP substitution exon 1 VAR_058409 P48200:p.Val159Leu SP substitution exon 1 VAR_058410 P48200:p.Ile580Thr SP substitution exon 1 VAR_058411 P07476:p.Glu227Gln SP substitution exon 1 VAR_058412 P07476:p.Pro236Ser SP substitution exon 1 VAR_058413 Q9H161:p.Arg257Thr SP substitution exon 1 VAR_058414 P52569:p.Gln547Leu SP substitution exon 1 VAR_058415 P50443:p.Ile574Thr SP substitution exon 1 VAR_058416 P48378:p.Arg610Gln SP substitution exon 1 VAR_058417 Q96JI7:p.Phe1349Ile SP substitution exon 1 VAR_058419 Q04771:p.Arg202Ile SP substitution exon 1 VAR_058420 Q04771:p.Gln207Glu SP substitution exon 1 VAR_058421 Q04771:p.Gly328Glu SP substitution exon 1 VAR_058422 Q04771:p.Gly328Arg SP substitution exon 1 VAR_058423 Q04771:p.Gly328Trp SP substitution exon 1 VAR_058424 Q04771:p.Gly356Asp SP substitution exon 1 VAR_058425 Q04771:p.Arg375Pro SP substitution exon 1 VAR_058426 P51788:p.Ser719Leu SP substitution exon 1 VAR_058427 Q8NHS3:p.Gly52Arg SP substitution exon 1 VAR_058428 Q8NHS3:p.Tyr121Cys SP substitution exon 1 VAR_058429 Q8NHS3:p.Arg139His SP substitution exon 1 VAR_058430 Q8NHS3:p.Ala157Pro SP substitution exon 1 VAR_058431 Q8NHS3:p.Thr294Lys SP substitution exon 1 VAR_058432 Q8NHS3:p.Pro447Leu SP substitution exon 1 VAR_058433 Q8NHS3:p.Arg465Trp SP substitution exon 1 VAR_058434 P50897:p.Trp38Cys SP substitution exon 1 VAR_058436 Q9NWW5:p.Pro159Leu SP substitution exon 1 VAR_058437 Q9NWW5:p.Tyr221Cys SP substitution exon 1 VAR_058438 Q9UBY8:p.Tyr158Cys SP substitution exon 1 VAR_058439 Q9UBY8:p.Gly237Arg SP substitution exon 1 VAR_058440 P35914:p.Glu37Lys SP substitution exon 1 VAR_058441 P35914:p.Lys48Asn SP substitution exon 1 VAR_058442 P35914:p.Ser75Arg SP substitution exon 1 VAR_058443 P35914:p.Ser142Phe SP substitution exon 1 VAR_058444 P35914:p.Cys174Tyr SP substitution exon 1 VAR_058445 P35914:p.Phe192Ser SP substitution exon 1 VAR_058446 P35914:p.Ile200Phe SP substitution exon 1 VAR_058447 P35914:p.Ser201Tyr SP substitution exon 1 VAR_058448 P35914:p.Gly203Glu SP substitution exon 1 VAR_058451 Q9NQ11:p.Thr12Met SP substitution exon 1 VAR_058452 Q9NQ11:p.Gly49Ser SP substitution exon 1 VAR_058453 Q9NQ11:p.Arg294Gln SP substitution exon 1 VAR_058454 Q9NQ11:p.Pro389Leu SP substitution exon 1 VAR_058455 Q9NQ11:p.Gly504Arg SP substitution exon 1 VAR_058456 Q9NQ11:p.Gly533Arg SP substitution exon 1 VAR_058457 Q9NQ11:p.Val578Gly SP substitution exon 1 VAR_058458 Q9NQ11:p.Ala746Thr SP substitution exon 1 VAR_058459 Q9NQ11:p.Arg762Trp SP substitution exon 1 VAR_058460 Q9NQ11:p.Val776Ile SP substitution exon 1 VAR_058461 Q9NQ11:p.Ile946Phe SP substitution exon 1 VAR_058462 Q9NZV5:p.Gly463Val SP substitution exon 1 VAR_058463 Q9NZV5:p.Arg469Gln SP substitution exon 1 VAR_058464 Q9NZV5:p.Arg469Trp SP substitution exon 1 VAR_058465 P24557:p.Leu70Pro SP substitution exon 1 VAR_058466 P24557:p.Leu70Val SP substitution exon 1 VAR_058467 P30613:p.Arg40Trp SP substitution exon 1 VAR_058469 P30613:p.Leu73Pro SP substitution exon 1 VAR_058470 P30613:p.Ala154Thr SP substitution exon 1 VAR_058471 P30613:p.Arg163Leu SP substitution exon 1 VAR_058472 P30613:p.Gly165Val SP substitution exon 1 VAR_058473 P30613:p.Leu272Val SP substitution exon 1 VAR_058474 P30613:p.Val320Leu SP substitution exon 1 VAR_058475 P30613:p.Gly358Glu SP substitution exon 1 VAR_058476 P30613:p.Leu374Pro SP substitution exon 1 VAR_058477 P06865:p.Ser293Ile SP substitution exon 1 VAR_058478 P52824:p.Pro27Leu SP substitution exon 1 VAR_058480 Q6ZVT0:p.Gly578Asp SP substitution exon 1 VAR_058481 Q9Y3Z3:p.His123Pro SP substitution exon 1 VAR_058482 Q9Y3Z3:p.Arg143Cys SP substitution exon 1 VAR_058483 Q9Y3Z3:p.Arg143His SP substitution exon 1 VAR_058484 Q9Y3Z3:p.Arg145Gln SP substitution exon 1 VAR_058485 Q9Y3Z3:p.Ile201Asn SP substitution exon 1 VAR_058486 Q9Y3Z3:p.Gly209Ser SP substitution exon 1 VAR_058487 Q9Y3Z3:p.Met254Val SP substitution exon 1 VAR_058488 Q9Y3Z3:p.Leu369Ser SP substitution exon 1 VAR_058489 Q9Y3Z3:p.Met385Val SP substitution exon 1 VAR_058490 P07339:p.Gly282Arg SP substitution exon 1 VAR_058491 Q9BU61:p.Gly77Arg SP substitution exon 1 VAR_058492 Q9BU61:p.Arg122Pro SP substitution exon 1 VAR_058493 O75521:p.Met47Ile SP substitution exon 1 VAR_058495 Q6B8I1:p.Lys73Arg SP substitution exon 1 VAR_058497 P38935:p.Leu17Pro SP substitution exon 1 VAR_058498 P38935:p.Gln196Arg SP substitution exon 1 VAR_058499 P38935:p.Pro216Leu SP substitution exon 1 VAR_058500 P38935:p.Leu251Pro SP substitution exon 1 VAR_058501 P38935:p.Trp386Arg SP substitution exon 1 VAR_058502 P38935:p.His445Pro SP substitution exon 1 VAR_058503 P38935:p.Leu472Pro SP substitution exon 1 VAR_058504 P38935:p.Thr493Ile SP substitution exon 1 VAR_058505 P38935:p.Arg581Ser SP substitution exon 1 VAR_058506 P38935:p.Arg603Cys SP substitution exon 1 VAR_058507 P15509:p.Gly196Arg SP substitution exon 1 VAR_058508 P10828:p.Arg429Gln SP substitution exon 1 VAR_058509 Q9Y2I6:p.Arg969Gly SP substitution exon 1 VAR_058510 Q9Y2I6:p.Arg1366His SP substitution exon 1 VAR_058511 P08236:p.Pro30Ser SP substitution exon 1 VAR_058512 P08236:p.Asp152Gly SP substitution exon 1 VAR_058513 P08236:p.Leu243Pro SP substitution exon 1 VAR_058514 P08236:p.Asn339Ser SP substitution exon 1 VAR_058516 P08236:p.Asp362Asn SP substitution exon 1 VAR_058517 P08236:p.Pro364Leu SP substitution exon 1 VAR_058518 P08236:p.Glu540Lys SP substitution exon 1 VAR_058519 P08236:p.Gly607Ala SP substitution exon 1 VAR_058520 Q8NBP7:p.Thr77Ile SP substitution exon 1 VAR_058521 Q8NBP7:p.Arg93Cys SP substitution exon 1 VAR_058522 Q8NBP7:p.Gly106Arg SP substitution exon 1 VAR_058523 Q8NBP7:p.Val114Ala SP substitution exon 1 VAR_058524 Q8NBP7:p.Asp129Gly SP substitution exon 1 VAR_058525 Q8NBP7:p.Asn157Lys SP substitution exon 1 VAR_058526 Q8NBP7:p.Arg215His SP substitution exon 1 VAR_058527 Q8NBP7:p.Arg218Ser SP substitution exon 1 VAR_058528 Q8NBP7:p.Gln219Glu SP substitution exon 1 VAR_058529 Q8NBP7:p.Ala239Asp SP substitution exon 1 VAR_058530 Q8NBP7:p.Arg357His SP substitution exon 1 VAR_058531 Q8NBP7:p.Asp374His SP substitution exon 1 VAR_058532 Q8NBP7:p.Asp374Tyr SP substitution exon 1 VAR_058533 Q8NBP7:p.Gly452Asp SP substitution exon 1 VAR_058534 Q8NBP7:p.Arg496Trp SP substitution exon 1 VAR_058535 Q8NBP7:p.Ala522Thr SP substitution exon 1 VAR_058536 Q8NBP7:p.Pro616Leu SP substitution exon 1 VAR_058537 Q8NBP7:p.Ser668Arg SP substitution exon 1 VAR_058538 O95970:p.Cys42Arg SP substitution exon 1 VAR_058539 O95970:p.Ala110Asp SP substitution exon 1 VAR_058540 O95970:p.Ile122Lys SP substitution exon 1 VAR_058541 O95970:p.Glu123Lys SP substitution exon 1 VAR_058542 O95970:p.Arg136Trp SP substitution exon 1 VAR_058543 O95970:p.Ser145Arg SP substitution exon 1 VAR_058544 O95970:p.Leu154Pro SP substitution exon 1 VAR_058545 O95970:p.Cys200Arg SP substitution exon 1 VAR_058546 O95970:p.Leu232Pro SP substitution exon 1 VAR_058547 O95970:p.Ile298Thr SP substitution exon 1 VAR_058548 O95970:p.Val432Glu SP substitution exon 1 VAR_058550 P42771:p.Arg24Gln SP substitution exon 1 VAR_058551 P42771:p.Gly35Val SP substitution exon 1 VAR_058553 P42771:p.Gly67Arg SP substitution exon 1 VAR_058554 P42771:p.Glu69Gly SP substitution exon 1 VAR_058555 P42771:p.Asp74Tyr SP substitution exon 1 VAR_058556 P42771:p.Thr77Pro SP substitution exon 1 VAR_058557 P42771:p.Arg80Pro SP substitution exon 1 VAR_058558 P42771:p.Pro81Thr SP substitution exon 1 VAR_058559 P42771:p.Pro114Ser SP substitution exon 1 VAR_058560 P21817:p.Leu13Arg SP substitution exon 1 VAR_058561 P21817:p.Met226Lys SP substitution exon 1 VAR_058562 P21817:p.Arg367Leu SP substitution exon 1 VAR_058563 P21817:p.Arg530His SP substitution exon 1 VAR_058564 P21817:p.Asp544Tyr SP substitution exon 1 VAR_058565 P21817:p.Arg1043Cys SP substitution exon 1 VAR_058566 P21817:p.Ala1352Gly SP substitution exon 1 VAR_058567 P21817:p.Ile2321Val SP substitution exon 1 VAR_058568 P21817:p.Arg2336His SP substitution exon 1 VAR_058569 P21817:p.Glu2404Lys SP substitution exon 1 VAR_058570 P21817:p.Leu2550Val SP substitution exon 1 VAR_058571 P21817:p.Asp2730Gly SP substitution exon 1 VAR_058572 P21817:p.Glu2880Lys SP substitution exon 1 VAR_058573 P21817:p.Ser3217Pro SP substitution exon 1 VAR_058574 P21817:p.Glu3290Lys SP substitution exon 1 VAR_058575 P21817:p.Glu3583Gln SP substitution exon 1 VAR_058576 P21817:p.Arg3772Trp SP substitution exon 1 VAR_058577 P21817:p.Gly3806Arg SP substitution exon 1 VAR_058578 P21817:p.Pro4501Leu SP substitution exon 1 VAR_058579 P21817:p.Ile4938Thr SP substitution exon 1 VAR_058580 O43511:p.Val402Met SP substitution exon 1 VAR_058581 O43511:p.Met775Thr SP substitution exon 1 VAR_058583 P35503:p.Ala158Val SP substitution exon 1 VAR_058584 P22310:p.Leu48Val SP substitution exon 1 VAR_058585 Q9HAW9:p.Ala144Val SP substitution exon 1 VAR_058586 Q9HAW9:p.Ala231Thr SP substitution exon 1 VAR_058587 O60656:p.Met33Thr SP substitution exon 1 VAR_058588 P23526:p.Arg49Cys SP substitution exon 1 VAR_058589 P23526:p.Asp86Gly SP substitution exon 1 VAR_058590 P23526:p.Ala89Val SP substitution exon 1 VAR_058591 P23526:p.Tyr143Cys SP substitution exon 1 VAR_058592 O95409:p.Asp37Asn SP substitution exon 1 VAR_058593 O95409:p.Asp128Asn SP substitution exon 1 VAR_058594 O95409:p.Ser272Asn SP substitution exon 1 VAR_058595 O95409:p.His286Leu SP substitution exon 1 VAR_058596 O95409:p.His286Gln SP substitution exon 1 VAR_058597 O95409:p.His286Tyr SP substitution exon 1 VAR_058598 O95409:p.His291Tyr SP substitution exon 1 VAR_058599 O95409:p.Trp304Arg SP substitution exon 1 VAR_058600 O95409:p.Phe314Cys SP substitution exon 1 VAR_058601 O95409:p.Arg325Leu SP substitution exon 1 VAR_058602 O95409:p.Arg325Ser SP substitution exon 1 VAR_058603 O95409:p.His327Tyr SP substitution exon 1 VAR_058604 O95409:p.Cys335Phe SP substitution exon 1 VAR_058605 O95409:p.Arg373Pro SP substitution exon 1 VAR_058606 O95409:p.Tyr402Asn SP substitution exon 1 VAR_058607 O95409:p.Thr403Lys SP substitution exon 1 VAR_058608 O95409:p.His404Arg SP substitution exon 1 VAR_058609 O95409:p.Arg409Trp SP substitution exon 1 VAR_058610 O95409:p.His415Gln SP substitution exon 1 VAR_058611 Q13148:p.Asn267Ser SP substitution exon 1 VAR_058612 Q13148:p.Gly294Val SP substitution exon 1 VAR_058613 Q13148:p.Gly295Arg SP substitution exon 1 VAR_058614 Q13148:p.Gly295Ser SP substitution exon 1 VAR_058615 Q13148:p.Ser332Asn SP substitution exon 1 VAR_058616 Q13148:p.Gly335Asp SP substitution exon 1 VAR_058617 Q13148:p.Ser379Cys SP substitution exon 1 VAR_058618 Q13148:p.Ser379Pro SP substitution exon 1 VAR_058619 Q13148:p.Ser393Leu SP substitution exon 1 VAR_058620 P15056:p.Thr241Met SP substitution exon 1 VAR_058621 P15056:p.Thr241Pro SP substitution exon 1 VAR_058622 P15056:p.Thr241Arg SP substitution exon 1 VAR_058623 P15056:p.Leu245Phe SP substitution exon 1 VAR_058624 P15056:p.Glu275Lys SP substitution exon 1 VAR_058625 P15056:p.Lys499Asn SP substitution exon 1 VAR_058626 P15056:p.Leu525Pro SP substitution exon 1 VAR_058627 P15056:p.Trp531Cys SP substitution exon 1 VAR_058628 P15056:p.Thr599Arg SP substitution exon 1 VAR_058629 P15056:p.Lys601Gln SP substitution exon 1 VAR_058630 P15056:p.Asp638Glu SP substitution exon 1 VAR_058631 P15056:p.Gln709Arg SP substitution exon 1 VAR_058632 P15884:p.Asp535Gly SP substitution exon 1 VAR_058635 Q9Y6H6:p.Thr4Ala SP substitution exon 1 VAR_058636 Q9Y6H6:p.Pro39Arg SP substitution exon 1 VAR_058637 Q9Y6H6:p.Arg99His SP substitution exon 1 VAR_058638 P22735:p.Cys53Ser SP substitution exon 1 VAR_058639 P22735:p.Gly94Asp SP substitution exon 1 VAR_058640 P22735:p.Arg126Cys SP substitution exon 1 VAR_058641 P22735:p.Arg126His SP substitution exon 1 VAR_058642 P22735:p.Tyr134Cys SP substitution exon 1 VAR_058643 P22735:p.Arg142Cys SP substitution exon 1 VAR_058644 P22735:p.Arg142Pro SP substitution exon 1 VAR_058645 P22735:p.Gly144Glu SP substitution exon 1 VAR_058646 P22735:p.Gly144Arg SP substitution exon 1 VAR_058647 P22735:p.Ser160Cys SP substitution exon 1 VAR_058648 P22735:p.Leu205Gln SP substitution exon 1 VAR_058649 P22735:p.Val209Phe SP substitution exon 1 VAR_058650 P22735:p.Arg225His SP substitution exon 1 VAR_058651 P22735:p.Arg225Pro SP substitution exon 1 VAR_058652 P22735:p.Ile243Ser SP substitution exon 1 VAR_058653 P22735:p.Pro249Leu SP substitution exon 1 VAR_058654 P22735:p.Arg264Gln SP substitution exon 1 VAR_058655 P22735:p.Arg264Trp SP substitution exon 1 VAR_058656 P22735:p.Ser272Pro SP substitution exon 1 VAR_058657 P22735:p.Tyr276Asn SP substitution exon 1 VAR_058658 P22735:p.Gly278Arg SP substitution exon 1 VAR_058659 P22735:p.Glu285Lys SP substitution exon 1 VAR_058660 P22735:p.Arg286Gln SP substitution exon 1 VAR_058661 P22735:p.Phe293Val SP substitution exon 1 VAR_058662 P22735:p.Ile304Phe SP substitution exon 1 VAR_058663 P22735:p.Arg307Gly SP substitution exon 1 VAR_058664 P22735:p.Arg315Cys SP substitution exon 1 VAR_058665 P22735:p.Arg315His SP substitution exon 1 VAR_058666 P22735:p.Arg315Leu SP substitution exon 1 VAR_058667 P22735:p.Arg323Trp SP substitution exon 1 VAR_058668 P22735:p.Asn330His SP substitution exon 1 VAR_058669 P22735:p.Ser331Pro SP substitution exon 1 VAR_058670 P22735:p.Trp342Arg SP substitution exon 1 VAR_058671 P22735:p.Ser358Arg SP substitution exon 1 VAR_058672 P22735:p.Val359Met SP substitution exon 1 VAR_058673 P22735:p.Tyr365Asp SP substitution exon 1 VAR_058674 P22735:p.Leu366Pro SP substitution exon 1 VAR_058675 P22735:p.Gly382Arg SP substitution exon 1 VAR_058676 P22735:p.Val383Met SP substitution exon 1 VAR_058677 P22735:p.Arg389Pro SP substitution exon 1 VAR_058678 P22735:p.Gly392Asp SP substitution exon 1 VAR_058679 P22735:p.Arg396His SP substitution exon 1 VAR_058680 P22735:p.Arg396Ser SP substitution exon 1 VAR_058681 P22735:p.Phe401Val SP substitution exon 1 VAR_058682 P22735:p.Asp430Val SP substitution exon 1 VAR_058683 P22735:p.Gly473Ser SP substitution exon 1 VAR_058684 P22735:p.Asp490Gly SP substitution exon 1 VAR_058685 P22735:p.Glu520Gly SP substitution exon 1 VAR_058686 P22735:p.Tyr544Cys SP substitution exon 1 VAR_058687 P22735:p.Arg687Cys SP substitution exon 1 VAR_058688 P22735:p.Arg687His SP substitution exon 1 VAR_058689 P22735:p.Arg764Cys SP substitution exon 1 VAR_058690 P53992:p.Pro109Ser SP substitution exon 1 VAR_058691 Q14028:p.Arg100His SP substitution exon 1 VAR_058692 Q08AH3:p.Val335Leu SP substitution exon 1 VAR_058693 Q08AH3:p.Thr336Ala SP substitution exon 1 VAR_058694 Q08AH3:p.Val337Gly SP substitution exon 1 VAR_058695 Q08AE8:p.Gln249Pro SP substitution exon 1 VAR_058696 P48448:p.Ser52Asn SP substitution exon 1 VAR_058697 P48448:p.His203Arg SP substitution exon 1 VAR_058698 P48448:p.Ser220Gly SP substitution exon 1 VAR_058699 P48448:p.Arg276Trp SP substitution exon 1 VAR_058701 Q9Y6Q3:p.Val7Asp SP substitution exon 1 VAR_058702 Q6IA17:p.Gln312Arg SP substitution exon 1 VAR_058703 Q6IA69:p.Gln204His SP substitution exon 1 VAR_058704 P48065:p.Cys10Arg SP substitution exon 1 VAR_058705 Q9NX18:p.Gly78Arg SP substitution exon 1 VAR_058706 Q17RB8:p.Ile265Leu SP substitution exon 1 VAR_058708 B3SHH9:p.Ala147Val SP substitution exon 1 VAR_058709 B3SHH9:p.Phe206Leu SP substitution exon 1 VAR_058710 Q15334:p.Ser148Gly SP substitution exon 1 VAR_058711 Q15334:p.Gln550His SP substitution exon 1 VAR_058712 Q9UL15:p.Cys157Trp SP substitution exon 1 VAR_058713 Q15021:p.Thr1321Ser SP substitution exon 1 VAR_058714 Q15743:p.Arg53Gln SP substitution exon 1 VAR_058715 Q969G2:p.Arg84Cys SP substitution exon 1 VAR_058716 Q969G2:p.Leu190Arg SP substitution exon 1 VAR_058717 Q969G2:p.Ala210Pro SP substitution exon 1 VAR_058718 O43291:p.Tyr163Cys SP substitution exon 1 VAR_058719 O14936:p.Arg28Leu SP substitution exon 1 VAR_058720 P21333:p.Cys210Phe SP substitution exon 1 VAR_058721 P21333:p.Pro1291Leu SP substitution exon 1 VAR_058722 Q12948:p.Pro79Leu SP substitution exon 1 VAR_058723 Q12948:p.Pro79Arg SP substitution exon 1 VAR_058724 Q12948:p.Pro79Thr SP substitution exon 1 VAR_058725 Q12948:p.Leu86Phe SP substitution exon 1 VAR_058726 Q12948:p.Ile91Ser SP substitution exon 1 VAR_058727 Q12948:p.Ile91Thr SP substitution exon 1 VAR_058728 Q12948:p.Tyr115Ser SP substitution exon 1 VAR_058729 Q12948:p.Arg127His SP substitution exon 1 VAR_058730 Q12948:p.Leu130Phe SP substitution exon 1 VAR_058731 Q12948:p.Gly149Asp SP substitution exon 1 VAR_058732 Q12948:p.Met161Val SP substitution exon 1 VAR_058733 Q12948:p.Gly165Arg SP substitution exon 1 VAR_058734 Q12948:p.Arg169Pro SP substitution exon 1 VAR_058735 Q99697:p.Pro110Leu SP substitution exon 1 VAR_058736 Q99697:p.Pro110Arg SP substitution exon 1 VAR_058737 Q99697:p.Lys134Glu SP substitution exon 1 VAR_058738 Q99697:p.Arg136Cys SP substitution exon 1 VAR_058739 Q99697:p.Leu151Val SP substitution exon 1 VAR_058740 Q99697:p.Asn154Thr SP substitution exon 1 VAR_058741 Q12840:p.Tyr63Cys SP substitution exon 1 VAR_058742 Q12840:p.Met198Thr SP substitution exon 1 VAR_058743 Q12840:p.Arg204Gln SP substitution exon 1 VAR_058744 Q12840:p.Glu251Lys SP substitution exon 1 VAR_058746 Q12840:p.Lys257Asn SP substitution exon 1 VAR_058747 Q12840:p.Arg280His SP substitution exon 1 VAR_058748 Q12840:p.Arg280Leu SP substitution exon 1 VAR_058749 Q7Z7G8:p.Ala829Thr SP substitution exon 1 VAR_058750 Q7Z7G8:p.Val866Ile SP substitution exon 1 VAR_058753 Q7Z7G8:p.Ile1994Val SP substitution exon 1 VAR_058754 Q7Z7G8:p.Ser2773Leu SP substitution exon 1 VAR_058755 Q7Z7G8:p.Ile2820Thr SP substitution exon 1 VAR_058756 Q7Z7G8:p.Tyr2822Cys SP substitution exon 1 VAR_058757 Q7Z7G8:p.Ser3142Arg SP substitution exon 1 VAR_058758 O75665:p.Gly138Ser SP substitution exon 1 VAR_058759 P98161:p.Pro36His SP substitution exon 1 VAR_058760 P98161:p.Pro61Leu SP substitution exon 1 VAR_058761 P98161:p.Leu87Met SP substitution exon 1 VAR_058762 P98161:p.Ser99Ile SP substitution exon 1 VAR_058763 P98161:p.Gln164Arg SP substitution exon 1 VAR_058764 P98161:p.Cys210Gly SP substitution exon 1 VAR_058765 P98161:p.Gly381Cys SP substitution exon 1 VAR_058766 P98161:p.Cys508Arg SP substitution exon 1 VAR_058767 P98161:p.Pro572Ser SP substitution exon 1 VAR_058768 P98161:p.Phe594Tyr SP substitution exon 1 VAR_058769 P98161:p.Val690Asp SP substitution exon 1 VAR_058770 P98161:p.Pro738Arg SP substitution exon 1 VAR_058771 P98161:p.Arg739Gln SP substitution exon 1 VAR_058772 P98161:p.Gln987His SP substitution exon 1 VAR_058773 P98161:p.Pro1168Ser SP substitution exon 1 VAR_058775 P98161:p.Thr1242Met SP substitution exon 1 VAR_058776 P98161:p.Arg1340Trp SP substitution exon 1 VAR_058777 P98161:p.Ala1516Thr SP substitution exon 1 VAR_058778 P98161:p.Thr1649Met SP substitution exon 1 VAR_058779 P98161:p.Thr1667Pro SP substitution exon 1 VAR_058780 P98161:p.Ser1684Leu SP substitution exon 1 VAR_058781 P98161:p.Glu1811Lys SP substitution exon 1 VAR_058782 P98161:p.Ala1871Thr SP substitution exon 1 VAR_058783 P98161:p.Ala1926Val SP substitution exon 1 VAR_058784 P98161:p.Val1943Ile SP substitution exon 1 VAR_058785 P98161:p.Gly1952Asp SP substitution exon 1 VAR_058786 P98161:p.Thr2083Ile SP substitution exon 1 VAR_058787 P98161:p.Tyr2092Cys SP substitution exon 1 VAR_058788 P98161:p.Tyr2185Asp SP substitution exon 1 VAR_058789 P98161:p.Arg2200Cys SP substitution exon 1 VAR_058791 P98161:p.Cys2370Arg SP substitution exon 1 VAR_058792 P98161:p.Cys2373Tyr SP substitution exon 1 VAR_058794 P98161:p.Thr2422Lys SP substitution exon 1 VAR_058795 P98161:p.Arg2761Pro SP substitution exon 1 VAR_058796 P98161:p.Gly2785Asp SP substitution exon 1 VAR_058797 P98161:p.Pro2802Leu SP substitution exon 1 VAR_058798 P98161:p.Ser2958Leu SP substitution exon 1 VAR_058799 P98161:p.Thr2977Asn SP substitution exon 1 VAR_058800 P98161:p.Val3008Met SP substitution exon 1 VAR_058802 P98161:p.Val3057Met SP substitution exon 1 VAR_058803 P98161:p.Val3138Met SP substitution exon 1 VAR_058804 P98161:p.Ile3167Phe SP substitution exon 1 VAR_058806 P98161:p.Pro3355Leu SP substitution exon 1 VAR_058807 P98161:p.Arg3435Gln SP substitution exon 1 VAR_058808 P98161:p.Gly3602Ser SP substitution exon 1 VAR_058809 P98161:p.Pro3649Leu SP substitution exon 1 VAR_058810 P98161:p.Leu3682Pro SP substitution exon 1 VAR_058811 P98161:p.Trp3726Ser SP substitution exon 1 VAR_058812 P98161:p.Gln3751Arg SP substitution exon 1 VAR_058813 P98161:p.Ala3954Pro SP substitution exon 1 VAR_058814 P98161:p.Gly4102Glu SP substitution exon 1 VAR_058815 P98161:p.Leu4106Pro SP substitution exon 1 VAR_058816 P98161:p.Pro4124Ser SP substitution exon 1 VAR_058817 P98161:p.Val4146Ile SP substitution exon 1 VAR_058818 P98161:p.Phe4155Val SP substitution exon 1 VAR_058819 P98161:p.Pro4255Ser SP substitution exon 1 VAR_058820 Q13563:p.Pro24Leu SP substitution exon 1 VAR_058821 Q13563:p.Ala190Thr SP substitution exon 1 VAR_058822 Q13563:p.Arg306Gln SP substitution exon 1 VAR_058823 Q13563:p.Arg322Gln SP substitution exon 1 VAR_058824 Q13563:p.Arg322Trp SP substitution exon 1 VAR_058825 Q13563:p.Arg420Gly SP substitution exon 1 VAR_058826 Q13563:p.Phe482Cys SP substitution exon 1 VAR_058827 Q13563:p.Asp511Val SP substitution exon 1 VAR_058828 Q13563:p.Cys632Arg SP substitution exon 1 VAR_058829 Q13563:p.Met800Leu SP substitution exon 1 VAR_058830 Q13563:p.Arg807Gln SP substitution exon 1 VAR_058831 Q5JR59:p.Leu1071Gln SP substitution exon 1 VAR_058846 P54793:p.His527Tyr SP substitution exon 1 VAR_058847 P56202:p.Ser139Gly SP substitution exon 1 VAR_058848 P54840:p.Met363Val SP substitution exon 1 VAR_058849 Q14515:p.His106Asp SP substitution exon 1 VAR_058863 P24903:p.Ser38Pro SP substitution exon 1 VAR_058864 P24903:p.Arg98Pro SP substitution exon 1 VAR_058865 P24903:p.Asp218Asn SP substitution exon 1 VAR_058866 P24903:p.Gln266His SP substitution exon 1 VAR_058867 P24903:p.Leu391Pro SP substitution exon 1 VAR_058868 P24903:p.Pro490Leu SP substitution exon 1 VAR_058869 Q8IYQ7:p.Gln399Arg SP substitution exon 1 VAR_058870 P54098:p.Arg232Gly SP substitution exon 1 VAR_058871 P54098:p.Arg232His SP substitution exon 1 VAR_058872 P54098:p.Leu244Pro SP substitution exon 1 VAR_058873 P54098:p.Gly268Ala SP substitution exon 1 VAR_058875 P54098:p.Gln308His SP substitution exon 1 VAR_058876 P54098:p.Gly380Asp SP substitution exon 1 VAR_058877 P54098:p.Leu463Phe SP substitution exon 1 VAR_058878 P54098:p.Ser511Asn SP substitution exon 1 VAR_058879 P54098:p.Gly517Val SP substitution exon 1 VAR_058880 P54098:p.Arg562Gln SP substitution exon 1 VAR_058881 P54098:p.Arg574Trp SP substitution exon 1 VAR_058882 P54098:p.Met603Leu SP substitution exon 1 VAR_058883 P54098:p.Arg627Gln SP substitution exon 1 VAR_058884 P54098:p.Pro648Arg SP substitution exon 1 VAR_058885 P54098:p.Gly737Arg SP substitution exon 1 VAR_058886 P54098:p.Ala767Asp SP substitution exon 1 VAR_058887 P54098:p.Arg807Cys SP substitution exon 1 VAR_058888 P54098:p.Arg807Pro SP substitution exon 1 VAR_058889 P54098:p.Arg853Trp SP substitution exon 1 VAR_058890 P54098:p.Gln879His SP substitution exon 1 VAR_058891 P54098:p.Thr885Ser SP substitution exon 1 VAR_058892 P54098:p.Thr914Pro SP substitution exon 1 VAR_058893 P54098:p.Ala957Pro SP substitution exon 1 VAR_058894 P54098:p.Arg1096His SP substitution exon 1 VAR_058895 P54098:p.His1110Tyr SP substitution exon 1 VAR_058896 P54098:p.His1134Arg SP substitution exon 1 VAR_058897 P54098:p.Asp1184Asn SP substitution exon 1 VAR_058898 P54098:p.Lys1191Asn SP substitution exon 1 VAR_058899 Q9H237:p.Ser136Phe SP substitution exon 1 VAR_058900 Q9H237:p.Gly168Arg SP substitution exon 1 VAR_058901 Q9H237:p.Arg228Cys SP substitution exon 1 VAR_058902 Q9H237:p.Val258Glu SP substitution exon 1 VAR_058903 Q9H237:p.His341Leu SP substitution exon 1 VAR_058904 Q9H237:p.Arg365Gln SP substitution exon 1 VAR_058905 Q9H237:p.Cys385Arg SP substitution exon 1 VAR_058906 Q9H237:p.Trp439Arg SP substitution exon 1 VAR_058907 P29317:p.Thr940Ile SP substitution exon 1 VAR_058908 P29317:p.Gly948Trp SP substitution exon 1 VAR_058909 P14550:p.Glu55Asp SP substitution exon 1 VAR_058910 P25445:p.Ile262Ser SP substitution exon 1 VAR_058925 P35670:p.Val536Ala SP substitution exon 1 VAR_058926 P35670:p.Ser657Arg SP substitution exon 1 VAR_058938 Q8IWU9:p.Leu36Pro SP substitution exon 1 VAR_058939 Q8IWU9:p.Leu36Val SP substitution exon 1 VAR_058940 Q8IWU9:p.Ser41Tyr SP substitution exon 1 VAR_058941 Q8IWU9:p.Arg55Cys SP substitution exon 1 VAR_058942 Q8IWU9:p.Arg303Trp SP substitution exon 1 VAR_058943 Q8IWU9:p.Ala328Val SP substitution exon 1 VAR_058945 O60383:p.Lys67Glu SP substitution exon 1 VAR_058946 O60383:p.Ser186Tyr SP substitution exon 1 VAR_058947 O60383:p.Val216Met SP substitution exon 1 VAR_058948 Q9Y619:p.Met37Arg SP substitution exon 1 VAR_058949 Q9Y619:p.Ala70Leu SP substitution exon 1 VAR_058950 Q9Y619:p.Leu71Gln SP substitution exon 1 VAR_058951 Q9Y619:p.Gly113Cys SP substitution exon 1 VAR_058952 Q9Y619:p.Phe188Leu SP substitution exon 1 VAR_058957 P11498:p.Arg156Gln SP substitution exon 1 VAR_058958 P11498:p.Arg270Trp SP substitution exon 1 VAR_058959 P11498:p.Tyr304Cys SP substitution exon 1 VAR_058960 P11498:p.Arg583Leu SP substitution exon 1 VAR_058961 P11498:p.Arg631Gln SP substitution exon 1 VAR_058963 Q8WXF7:p.Asp43Glu SP substitution exon 1 VAR_058964 Q8WXF7:p.Phe193Cys SP substitution exon 1 VAR_058965 Q13330:p.Ala612Thr SP substitution exon 1 VAR_058966 Q15572:p.Cys91Tyr SP substitution exon 1 VAR_058968 P59044:p.Met163Leu SP substitution exon 1 VAR_058969 P59044:p.Tyr361Phe SP substitution exon 1 VAR_058970 P56945:p.Pro76Ser SP substitution exon 1 VAR_058971 P56696:p.His455Gln SP substitution exon 1 VAR_058972 P58397:p.Thr1495Ile SP substitution exon 1 VAR_058974 O95972:p.Ser5Arg SP substitution exon 1 VAR_058975 O95972:p.Arg61Gln SP substitution exon 1 VAR_058976 O95972:p.Arg61Trp SP substitution exon 1 VAR_058977 O95972:p.Arg68Trp SP substitution exon 1 VAR_058978 O95972:p.Arg76Cys SP substitution exon 1 VAR_058979 O95972:p.Arg76His SP substitution exon 1 VAR_058980 O95972:p.Asn103Ser SP substitution exon 1 VAR_058981 O95972:p.Arg138His SP substitution exon 1 VAR_058982 O95972:p.Leu148Pro SP substitution exon 1 VAR_058983 O95972:p.Ala180Phe SP substitution exon 1 VAR_058984 O95972:p.Ala180Thr SP substitution exon 1 VAR_058985 O95972:p.Asn196Lys SP substitution exon 1 VAR_058986 O95972:p.Arg206His SP substitution exon 1 VAR_058987 O95972:p.Trp221Arg SP substitution exon 1 VAR_058988 O95972:p.Ile243Val SP substitution exon 1 VAR_058990 P17302:p.Gly2Val SP substitution exon 1 VAR_058991 P17302:p.Leu7Val SP substitution exon 1 VAR_058992 P17302:p.Leu11Pro SP substitution exon 1 VAR_058993 P17302:p.Val41Leu SP substitution exon 1 VAR_058994 P17302:p.Gln49Pro SP substitution exon 1 VAR_058996 P17302:p.Pro59His SP substitution exon 1 VAR_058997 P17302:p.Arg76His SP substitution exon 1 VAR_058998 P17302:p.His95Arg SP substitution exon 1 VAR_058999 P17302:p.Val96Ala SP substitution exon 1 VAR_059000 P17302:p.Val96Glu SP substitution exon 1 VAR_059001 P17302:p.Val96Met SP substitution exon 1 VAR_059002 P17302:p.Leu106Pro SP substitution exon 1 VAR_059003 P17302:p.Glu110Asp SP substitution exon 1 VAR_059004 P17302:p.Met147Thr SP substitution exon 1 VAR_059005 P17302:p.Thr154Ala SP substitution exon 1 VAR_059006 P17302:p.Thr154Asn SP substitution exon 1 VAR_059008 P17302:p.His194Pro SP substitution exon 1 VAR_059009 P17302:p.Ser201Phe SP substitution exon 1 VAR_059010 P17302:p.Ser220Tyr SP substitution exon 1 VAR_059011 P17302:p.Ser251Thr SP substitution exon 1 VAR_059012 P17302:p.Ala253Pro SP substitution exon 1 VAR_059018 Q01726:p.Val38Met SP substitution exon 1 VAR_059019 Q01726:p.Ser41Phe SP substitution exon 1 VAR_059020 Q01726:p.Val51Ala SP substitution exon 1 VAR_059021 Q01726:p.Leu93Arg SP substitution exon 1 VAR_059022 Q01726:p.Met128Thr SP substitution exon 1 VAR_059023 Q01726:p.Arg142His SP substitution exon 1 VAR_059024 Q01726:p.Asn281Ser SP substitution exon 1 VAR_059025 Q01726:p.Cys289Arg SP substitution exon 1 VAR_059026 O43175:p.Arg135Trp SP substitution exon 1 VAR_059027 O43175:p.Val261Met SP substitution exon 1 VAR_059028 O43175:p.Ala373Thr SP substitution exon 1 VAR_059029 O43175:p.Gly377Ser SP substitution exon 1 VAR_059031 O75503:p.Glu219Ala SP substitution exon 1 VAR_059032 O75503:p.Trp330Cys SP substitution exon 1 VAR_059033 Q9H4A3:p.Thr1056Pro SP substitution exon 1 VAR_059034 Q9H4A3:p.Cys1506Ser SP substitution exon 1 VAR_059035 Q8WX94:p.Leu398Arg SP substitution exon 1 VAR_059036 Q8WX94:p.Pro651Ser SP substitution exon 1 VAR_059037 Q8WX94:p.Arg693Gln SP substitution exon 1 VAR_059038 Q8WX94:p.Pro716Ala SP substitution exon 1 VAR_059039 Q8WX94:p.Arg721Trp SP substitution exon 1 VAR_059040 Q8WX94:p.Cys761Tyr SP substitution exon 1 VAR_059041 P10828:p.Ala268Gly SP substitution exon 1 VAR_059042 P10828:p.Asn331Asp SP substitution exon 1 VAR_059043 P10828:p.Ala335Pro SP substitution exon 1 VAR_059044 P10828:p.Leu341Pro SP substitution exon 1 VAR_059045 P10828:p.Leu346Phe SP substitution exon 1 VAR_059046 P10828:p.Ile431Met SP substitution exon 1 VAR_059047 P10828:p.Pro447Thr SP substitution exon 1 VAR_059048 P10828:p.Pro453Leu SP substitution exon 1 VAR_059049 P10828:p.Phe459Cys SP substitution exon 1 VAR_059050 Q8WWY8:p.Trp108Arg SP substitution exon 1 VAR_059051 Q9Y6B6:p.Gly11Asp SP substitution exon 1 VAR_059052 Q9Y6B6:p.Asp75Gly SP substitution exon 1 VAR_059053 P16152:p.Val88Ile SP substitution exon 1 VAR_059061 Q8NGF1:p.Phe88Leu SP substitution exon 1 VAR_059062 Q8NGF1:p.Ile129Thr SP substitution exon 1 VAR_059063 Q8NGF1:p.Asn201Tyr SP substitution exon 1 VAR_059064 Q8NGF1:p.Ser245Ala SP substitution exon 1 VAR_059065 Q14929:p.Glu78Lys SP substitution exon 1 VAR_059066 Q14929:p.Ser152Leu SP substitution exon 1 VAR_059067 Q14929:p.Gln596His SP substitution exon 1 VAR_059068 P32322:p.Arg119Gly SP substitution exon 1 VAR_059069 P32322:p.Arg119His SP substitution exon 1 VAR_059070 P32322:p.Ala179Thr SP substitution exon 1 VAR_059071 P32322:p.Ala189Val SP substitution exon 1 VAR_059072 P32322:p.Gly206Arg SP substitution exon 1 VAR_059073 P32322:p.Gly206Trp SP substitution exon 1 VAR_059074 P32322:p.Arg251His SP substitution exon 1 VAR_059075 P32322:p.Ala257Thr SP substitution exon 1 VAR_059076 P32322:p.Arg266Gln SP substitution exon 1 VAR_059077 Q14593:p.Gly454Glu SP substitution exon 1 VAR_059078 Q14593:p.Glu461Asp SP substitution exon 1 VAR_059079 Q14114:p.Arg736Gln SP substitution exon 1 VAR_059080 O14896:p.Arg339Ile SP substitution exon 1 VAR_059081 P48751:p.His157Pro SP substitution exon 1 VAR_059083 A8K2U0:p.Asp850Glu SP substitution exon 1 VAR_059085 Q9BVQ7:p.Arg252Gln SP substitution exon 1 VAR_059086 Q9UQ90:p.Ser645Thr SP substitution exon 1 VAR_059087 Q86UQ4:p.Pro506Leu SP substitution exon 1 VAR_059088 Q86UQ4:p.Arg555His SP substitution exon 1 VAR_059089 Q86UQ4:p.Ile767Ser SP substitution exon 1 VAR_059090 Q86UQ4:p.Glu799Lys SP substitution exon 1 VAR_059091 Q86UQ4:p.Ile1434Val SP substitution exon 1 VAR_059092 Q86UQ4:p.Phe1540Leu SP substitution exon 1 VAR_059093 Q86UQ4:p.Ile1889Lys SP substitution exon 1 VAR_059094 Q86UQ4:p.Asn2033Asp SP substitution exon 1 VAR_059095 Q86UQ4:p.Ser2154Leu SP substitution exon 1 VAR_059096 Q86UQ4:p.Ala2178Glu SP substitution exon 1 VAR_059097 Q86UQ4:p.Leu2212Ser SP substitution exon 1 VAR_059098 Q86UQ4:p.Lys2436Arg SP substitution exon 1 VAR_059099 Q86UQ4:p.Ser2537Ala SP substitution exon 1 VAR_059100 Q86UQ4:p.Arg2674Trp SP substitution exon 1 VAR_059101 Q86UQ4:p.Ala3142Val SP substitution exon 1 VAR_059102 Q86UQ4:p.Tyr3851Phe SP substitution exon 1 VAR_059103 Q86UQ4:p.Asn4277Asp SP substitution exon 1 VAR_059104 Q86UQ4:p.Gln4302Arg SP substitution exon 1 VAR_059105 Q86UQ4:p.Pro4335Ala SP substitution exon 1 VAR_059106 O95342:p.Val444Asp SP substitution exon 1 VAR_059107 O95342:p.Val444Gly SP substitution exon 1 VAR_059108 O95255:p.Met848Val SP substitution exon 1 VAR_059109 Q8NC06:p.Arg242Gly SP substitution exon 1 VAR_059110 P32297:p.Arg37His SP substitution exon 1 VAR_059111 Q92572:p.Pro158Leu SP substitution exon 1 VAR_059112 O75969:p.Ser700Pro SP substitution exon 1 VAR_059114 Q9NWM0:p.Arg301Pro SP substitution exon 1 VAR_059115 Q12955:p.His2885Gln SP substitution exon 1 VAR_059116 Q12955:p.Ile3117Val SP substitution exon 1 VAR_059117 Q12955:p.Lys3123Arg SP substitution exon 1 VAR_059119 Q6S5H4:p.Ala568Thr SP substitution exon 1 VAR_059120 Q9BQI6:p.Ser288Arg SP substitution exon 1 VAR_059121 Q7Z3H0:p.Tyr5Phe SP substitution exon 1 VAR_059122 Q7Z3H0:p.Gln132Arg SP substitution exon 1 VAR_059123 Q7Z3H0:p.Thr188Asn SP substitution exon 1 VAR_059124 Q7Z3H0:p.Val261Ile SP substitution exon 1 VAR_059125 Q2M3V2:p.Arg124Pro SP substitution exon 1 VAR_059126 A6NEL2:p.Asp152Gly SP substitution exon 1 VAR_059127 Q96NS5:p.Thr240Ile SP substitution exon 1 VAR_059128 Q6ZVZ8:p.Gly261Ser SP substitution exon 1 VAR_059129 Q0P5N6:p.Ser10Arg SP substitution exon 1 VAR_059130 Q7Z3Z3:p.Arg589Cys SP substitution exon 1 VAR_059131 Q86U10:p.Cys95Arg SP substitution exon 1 VAR_059132 Q86U10:p.Leu96Val SP substitution exon 1 VAR_059133 Q86U10:p.Ser344Arg SP substitution exon 1 VAR_059134 Q9BYC2:p.Glu250Asp SP substitution exon 1 VAR_059135 Q9BYC2:p.Leu285Arg SP substitution exon 1 VAR_059136 Q9Y4G6:p.Ala1148Thr SP substitution exon 1 VAR_059137 O75185:p.Met165Leu SP substitution exon 1 VAR_059139 P98196:p.Met317Val SP substitution exon 1 VAR_059140 O94905:p.Val71Ala SP substitution exon 1 VAR_059141 Q9BXK5:p.Ile46Arg SP substitution exon 1 VAR_059142 Q9BXK5:p.Ile46Thr SP substitution exon 1 VAR_059143 Q9H8M2:p.Ala170Thr SP substitution exon 1 VAR_059147 P59282:p.Arg133Leu SP substitution exon 1 VAR_059148 P0C862:p.Leu6Phe SP substitution exon 1 VAR_059149 P11509:p.Val292Met SP substitution exon 1 VAR_059152 P22680:p.His86Asn SP substitution exon 1 VAR_059153 Q6UW02:p.Ser97Leu SP substitution exon 1 VAR_059154 Q6UW02:p.Leu346Phe SP substitution exon 1 VAR_059155 P20930:p.Thr454Ala SP substitution exon 1 VAR_059156 P20930:p.Pro478Ser SP substitution exon 1 VAR_059157 P20930:p.Thr725Ile SP substitution exon 1 VAR_059158 P20930:p.Ser1482Tyr SP substitution exon 1 VAR_059159 P20930:p.Arg1699Cys SP substitution exon 1 VAR_059160 P20930:p.Ser1750Phe SP substitution exon 1 VAR_059161 P20930:p.His1816Gln SP substitution exon 1 VAR_059162 P20930:p.Arg1891Gln SP substitution exon 1 VAR_059163 P20930:p.Ala2108Val SP substitution exon 1 VAR_059164 P20930:p.Tyr2119His SP substitution exon 1 VAR_059165 P20930:p.Tyr2194His SP substitution exon 1 VAR_059166 P20930:p.Gly2545Arg SP substitution exon 1 VAR_059167 P20930:p.Tyr3105Asp SP substitution exon 1 VAR_059168 P20930:p.Val3179Gly SP substitution exon 1 VAR_059169 P20930:p.Trp3503Gly SP substitution exon 1 VAR_059170 P20930:p.Arg3564His SP substitution exon 1 VAR_059171 P20930:p.Glu3593Asp SP substitution exon 1 VAR_059172 P20930:p.His3630Tyr SP substitution exon 1 VAR_059173 Q5D862:p.Ser958Tyr SP substitution exon 1 VAR_059174 Q86YZ3:p.His273Gln SP substitution exon 1 VAR_059175 Q86YZ3:p.Ser2435Gly SP substitution exon 1 VAR_059176 Q86YZ3:p.Gly2461Ser SP substitution exon 1 VAR_059177 Q6XPR3:p.Ser320Gly SP substitution exon 1 VAR_059178 P32926:p.Thr912Ala SP substitution exon 1 VAR_059179 Q9Y5H9:p.Glu25Lys SP substitution exon 1 VAR_059180 Q9UN74:p.Glu55Asp SP substitution exon 1 VAR_059181 Q9Y5H6:p.Lys579Glu SP substitution exon 1 VAR_059182 Q9Y5H5:p.Lys764Gln SP substitution exon 1 VAR_059183 Q9Y5E2:p.Pro575Leu SP substitution exon 1 VAR_059184 Q9Y5E2:p.Leu576Val SP substitution exon 1 VAR_059185 Q9Y5E2:p.Arg716Trp SP substitution exon 1 VAR_059186 Q9Y5E1:p.Ser174Pro SP substitution exon 1 VAR_059187 Q9Y5E1:p.Ala239Val SP substitution exon 1 VAR_059188 Q9Y5F2:p.Asp528Glu SP substitution exon 1 VAR_059189 Q9Y5F0:p.Arg471Gly SP substitution exon 1 VAR_059190 Q9Y5H0:p.Ala743Val SP substitution exon 1 VAR_059191 O95206:p.Thr367Ala SP substitution exon 1 VAR_059193 Q96C11:p.Asn43Lys SP substitution exon 1 VAR_059194 Q96C11:p.Leu246Val SP substitution exon 1 VAR_059195 Q96MI9:p.Gln1010Arg SP substitution exon 1 VAR_059197 Q7Z434:p.Cys79Ser SP substitution exon 1 VAR_059198 P55211:p.Phe136Leu SP substitution exon 1 VAR_059199 P02549:p.Lys1693Gln SP substitution exon 1 VAR_059200 P02549:p.Asn1836Ser SP substitution exon 1 VAR_059201 P02549:p.Ile2265Thr SP substitution exon 1 VAR_059202 Q5VT06:p.Arg892Thr SP substitution exon 1 VAR_059203 Q5VT06:p.Gly1213Val SP substitution exon 1 VAR_059204 Q5VT06:p.Thr1446Ala SP substitution exon 1 VAR_059205 Q5VT06:p.Ser1517Ala SP substitution exon 1 VAR_059206 P30622:p.Ser162Pro SP substitution exon 1 VAR_059207 Q8N1Q1:p.Asn68Ser SP substitution exon 1 VAR_059208 Q9NZA1:p.Thr114Ala SP substitution exon 1 VAR_059209 P51800:p.Arg534Trp SP substitution exon 1 VAR_059210 P19876:p.His3Arg SP substitution exon 1 VAR_059211 P13236:p.Ser80Thr SP substitution exon 1 VAR_059212 Q9UBD3:p.Arg29Lys SP substitution exon 1 VAR_059213 Q8TD26:p.Gln780His SP substitution exon 1 VAR_059214 P53675:p.Asn1195Ser SP substitution exon 1 VAR_059215 P53675:p.Met1316Val SP substitution exon 1 VAR_059216 P53675:p.Ile1394Thr SP substitution exon 1 VAR_059217 P53675:p.Val1592Met SP substitution exon 1 VAR_059219 Q96B33:p.Val210Met SP substitution exon 1 VAR_059220 O14657:p.Ala54Thr SP substitution exon 1 VAR_059221 O00555:p.Glu732Ala SP substitution exon 1 VAR_059222 O00555:p.Pro1173Leu SP substitution exon 1 VAR_059223 Q13936:p.Pro1868Leu SP substitution exon 1 VAR_059224 Q13936:p.Met1869Val SP substitution exon 1 VAR_059225 Q14028:p.Leu479Ile SP substitution exon 1 VAR_059226 Q14028:p.Val535Ala SP substitution exon 1 VAR_059227 Q14028:p.Asn731Lys SP substitution exon 1 VAR_059228 Q14028:p.Leu745Ile SP substitution exon 1 VAR_059229 Q14028:p.Lys911Arg SP substitution exon 1 VAR_059230 Q14028:p.Ala961Ser SP substitution exon 1 VAR_059231 Q8WTW3:p.Met357Leu SP substitution exon 1 VAR_059242 Q14031:p.Ser455Pro SP substitution exon 1 VAR_059243 Q6NUM9:p.Gly536Arg SP substitution exon 1 VAR_059244 Q6NUM9:p.Pro559Thr SP substitution exon 1 VAR_059245 Q01523:p.Arg71His SP substitution exon 1 VAR_059246 Q8NET1:p.Ile27Val SP substitution exon 1 VAR_059247 Q8NET1:p.His45Leu SP substitution exon 1 VAR_059248 Q8NET1:p.Gln53Arg SP substitution exon 1 VAR_059249 Q13609:p.Asn96Lys SP substitution exon 1 VAR_059250 Q8WZ79:p.Gln3His SP substitution exon 1 VAR_059251 Q8WZ79:p.Arg51Lys SP substitution exon 1 VAR_059252 Q6P996:p.Pro301Leu SP substitution exon 1 VAR_059253 Q9BV20:p.Met235Val SP substitution exon 1 VAR_059254 Q9BV20:p.Gly319Ala SP substitution exon 1 VAR_059255 Q9BZG8:p.Ile51Met SP substitution exon 1 VAR_059256 P98172:p.Thr172Met SP substitution exon 1 VAR_059257 Q9Y603:p.Ala86Thr SP substitution exon 1 VAR_059258 O75095:p.Met115Thr SP substitution exon 1 VAR_059259 O75095:p.Ala313Val SP substitution exon 1 VAR_059260 O75095:p.Leu688Pro SP substitution exon 1 VAR_059261 A6BM72:p.Ser95Asn SP substitution exon 1 VAR_059262 A6BM72:p.His317Arg SP substitution exon 1 VAR_059263 A6BM72:p.Leu474Pro SP substitution exon 1 VAR_059264 A6BM72:p.Leu861Phe SP substitution exon 1 VAR_059265 A6BM72:p.Ile988Thr SP substitution exon 1 VAR_059266 P98095:p.Ser361Gly SP substitution exon 1 VAR_059267 P98095:p.Asn387Thr SP substitution exon 1 VAR_059268 P98095:p.Thr854Ala SP substitution exon 1 VAR_059269 Q9ULI3:p.Ser305Pro SP substitution exon 1 VAR_059270 Q14767:p.Arg37Met SP substitution exon 1 VAR_059275 Q9UQP3:p.Met859Val SP substitution exon 1 VAR_059278 Q9Y493:p.Ile1995Met SP substitution exon 1 VAR_059279 Q9Y493:p.Asn2073Ser SP substitution exon 1 VAR_059280 Q9Y493:p.Thr2527Met SP substitution exon 1 VAR_059281 Q9Y493:p.Trp2643Arg SP substitution exon 1 VAR_059282 Q96MK3:p.Asn332Lys SP substitution exon 1 VAR_059283 Q96MK3:p.Leu530Ser SP substitution exon 1 VAR_059284 P15328:p.Trp28Arg SP substitution exon 1 VAR_059285 A0AVI2:p.Ile337Thr SP substitution exon 1 VAR_059286 A0AVI2:p.Thr682Ala SP substitution exon 1 VAR_059287 Q9BYJ0:p.Phe84Leu SP substitution exon 1 VAR_059288 Q8TAT2:p.Ala107Thr SP substitution exon 1 VAR_059289 Q96DP5:p.Val5Ala SP substitution exon 1 VAR_059290 Q9NZ56:p.Arg1148Gly SP substitution exon 1 VAR_059291 P0C091:p.Asp417Asn SP substitution exon 1 VAR_059292 Q13576:p.Lys532Glu SP substitution exon 1 VAR_059293 Q96QB1:p.Arg27Cys SP substitution exon 1 VAR_059294 Q96QB1:p.Leu81Val SP substitution exon 1 VAR_059295 Q96QB1:p.Gln254His SP substitution exon 1 VAR_059296 Q96QB1:p.Asn255Asp SP substitution exon 1 VAR_059297 Q96QB1:p.Thr260Ile SP substitution exon 1 VAR_059298 Q96QB1:p.Gln320His SP substitution exon 1 VAR_059299 Q9NU39:p.Val29Ile SP substitution exon 1 VAR_059300 Q96NZ1:p.Pro137Leu SP substitution exon 1 VAR_059301 P31785:p.Thr44Ser SP substitution exon 1 VAR_059302 P24394:p.Ile75Phe SP substitution exon 1 VAR_059303 P24394:p.Ile75Leu SP substitution exon 1 VAR_059304 Q9NRM6:p.Gly177Arg SP substitution exon 1 VAR_059305 Q05932:p.Ile22Val SP substitution exon 1 VAR_059306 Q9BZQ6:p.Ile820Ser SP substitution exon 1 VAR_059307 P31040:p.Val333Ile SP substitution exon 1 VAR_059308 Q86YP4:p.Arg17Gln SP substitution exon 1 VAR_059309 Q86YP4:p.Asn296Ser SP substitution exon 1 VAR_059310 O15303:p.Gln59Pro SP substitution exon 1 VAR_059311 O00462:p.Val253Leu SP substitution exon 1 VAR_059313 Q71DI3:p.Met91Thr SP substitution exon 1 VAR_059314 Q71DI3:p.Ala128Val SP substitution exon 1 VAR_059315 Q6ZNI0:p.Asn425His SP substitution exon 1 VAR_059316 P55160:p.Thr391Ala SP substitution exon 1 VAR_059317 Q96L58:p.Glu174Asp SP substitution exon 1 VAR_059318 O15047:p.Asp639Asn SP substitution exon 1 VAR_059319 P50148:p.Glu355Asp SP substitution exon 1 VAR_059320 Q9UPW6:p.Ser263Pro SP substitution exon 1 VAR_059321 Q12837:p.Ile40Thr SP substitution exon 1 VAR_059322 O60755:p.Gln349Arg SP substitution exon 1 VAR_059323 Q8TDT2:p.Leu317Val SP substitution exon 1 VAR_059324 Q9HBX8:p.Val592Ala SP substitution exon 1 VAR_059325 Q86SM8:p.Gly15Ser SP substitution exon 1 VAR_059326 Q86SM8:p.Gly159Ser SP substitution exon 1 VAR_059327 Q9GZQ6:p.Ile145Leu SP substitution exon 1 VAR_059328 P30989:p.Ala72Val SP substitution exon 1 VAR_059329 Q8IZF6:p.Pro368His SP substitution exon 1 VAR_059330 Q8IZF6:p.Thr1213Asn SP substitution exon 1 VAR_059331 Q8IZF6:p.Ser1540Pro SP substitution exon 1 VAR_059332 Q8IZF6:p.Phe1791Leu SP substitution exon 1 VAR_059333 O60320:p.Gly228Ser SP substitution exon 1 VAR_059334 O60320:p.Gly314Asp SP substitution exon 1 VAR_059336 Q9C0I3:p.Gly382Ser SP substitution exon 1 VAR_059337 Q9C0D2:p.Gln80Lys SP substitution exon 1 VAR_059338 Q9C0D2:p.Arg208Gln SP substitution exon 1 VAR_059339 Q9C0D2:p.Ala499Glu SP substitution exon 1 VAR_059340 Q9C0D2:p.Glu1026Lys SP substitution exon 1 VAR_059341 Q9C0D2:p.Ala1270Gly SP substitution exon 1 VAR_059342 Q9C0D2:p.Gly1441Glu SP substitution exon 1 VAR_059343 Q9C0D2:p.Leu1459Arg SP substitution exon 1 VAR_059344 Q9HAP2:p.Glu396Gly SP substitution exon 1 VAR_059346 Q01664:p.Gln218His SP substitution exon 1 VAR_059352 Q8N693:p.Thr314Pro SP substitution exon 1 VAR_059353 A8MTQ0:p.Arg5Thr SP substitution exon 1 VAR_059354 A8MTQ0:p.Asn164Lys SP substitution exon 1 VAR_059355 Q9BYU1:p.Val169Ile SP substitution exon 1 VAR_059356 Q9BYU1:p.Met177Val SP substitution exon 1 VAR_059357 O43426:p.Pro1508Leu SP substitution exon 1 VAR_059358 Q92835:p.His1169Tyr SP substitution exon 1 VAR_059359 Q96PE3:p.Thr604Ala SP substitution exon 1 VAR_059360 P17066:p.Val336Phe SP substitution exon 1 VAR_059361 P17066:p.Lys528Arg SP substitution exon 1 VAR_059362 Q96MM6:p.Arg270His SP substitution exon 1 VAR_059363 P20702:p.Ile564Val SP substitution exon 1 VAR_059364 O60271:p.Asn1320Ser SP substitution exon 1 VAR_059365 Q14500:p.Ile100Val SP substitution exon 1 VAR_059366 Q14500:p.Arg118Gln SP substitution exon 1 VAR_059367 Q14500:p.Gln192His SP substitution exon 1 VAR_059368 Q14500:p.Glu430Gly SP substitution exon 1 VAR_059369 Q9UIL4:p.Lys28Met SP substitution exon 1 VAR_059370 Q02224:p.Ser1911Thr SP substitution exon 1 VAR_059371 Q2TAC6:p.Arg807His SP substitution exon 1 VAR_059372 P59827:p.Gly167Trp SP substitution exon 1 VAR_059373 P59827:p.Ile229Val SP substitution exon 1 VAR_059374 P00338:p.Ser161Arg SP substitution exon 1 VAR_059375 P01130:p.Pro105Ser SP substitution exon 1 VAR_059376 P13646:p.Phe81Tyr SP substitution exon 1 VAR_059377 P13646:p.Thr298Ala SP substitution exon 1 VAR_059378 O15061:p.Arg355Trp SP substitution exon 1 VAR_059379 O15061:p.Gly462Ser SP substitution exon 1 VAR_059380 O15061:p.Gly1130Ser SP substitution exon 1 VAR_059381 O15061:p.Gly1345Ala SP substitution exon 1 VAR_059382 Q5VYY2:p.Leu274Ser SP substitution exon 1 VAR_059383 Q8N126:p.Arg162Trp SP substitution exon 1 VAR_059384 Q14002:p.Tyr236His SP substitution exon 1 VAR_059385 Q6UY09:p.Cys512Arg SP substitution exon 1 VAR_059386 Q6UXZ3:p.Ser6Ala SP substitution exon 1 VAR_059387 Q6UXZ3:p.Val89Met SP substitution exon 1 VAR_059388 Q9P2B2:p.Ser277Thr SP substitution exon 1 VAR_059389 Q9HCN6:p.Leu317Gln SP substitution exon 1 VAR_059390 Q9HCN6:p.Asn322His SP substitution exon 1 VAR_059391 Q8TDY8:p.Ser803Cys SP substitution exon 1 VAR_059392 P15814:p.Arg189His SP substitution exon 1 VAR_059393 O95998:p.Arg91His SP substitution exon 1 VAR_059394 P32942:p.Arg115Gly SP substitution exon 1 VAR_059395 P0C6S8:p.Arg426His SP substitution exon 1 VAR_059396 O75019:p.Arg12Gly SP substitution exon 1 VAR_059397 Q8N6C8:p.Trp307Cys SP substitution exon 1 VAR_059398 Q8NHL6:p.His301Tyr SP substitution exon 1 VAR_059399 P20916:p.Leu202Met SP substitution exon 1 VAR_059400 Q7Z553:p.Val608Phe SP substitution exon 1 VAR_059406 Q9UKJ0:p.Ile63Thr SP substitution exon 1 VAR_059407 Q9UKJ0:p.Asn66Asp SP substitution exon 1 VAR_059408 P11464:p.Ile125Val SP substitution exon 1 VAR_059409 Q16557:p.Leu30Ser SP substitution exon 1 VAR_059410 Q00887:p.Leu18Val SP substitution exon 1 VAR_059411 Q5TFQ8:p.Thr51Ile SP substitution exon 1 VAR_059412 Q5T2D2:p.Gly19Cys SP substitution exon 1 VAR_059413 P32004:p.Leu958Val SP substitution exon 1 VAR_059414 Q0ZGT2:p.Arg335Lys SP substitution exon 1 VAR_059423 P43632:p.Asn178His SP substitution exon 1 VAR_059424 P43632:p.Ala205Ser SP substitution exon 1 VAR_059425 P43632:p.Lys254Asn SP substitution exon 1 VAR_059428 Q96J84:p.Ala78Thr SP substitution exon 1 VAR_059429 Q5VST9:p.Arg4516Trp SP substitution exon 1 VAR_059430 P31994:p.Gln83Pro SP substitution exon 1 VAR_059431 Q96JB6:p.Pro372Thr SP substitution exon 1 VAR_059432 P78559:p.Thr2405Ile SP substitution exon 1 VAR_059433 P78559:p.Asp2465Asn SP substitution exon 1 VAR_059434 Q96T53:p.Thr46Ala SP substitution exon 1 VAR_059435 Q9Y6K8:p.Arg465Gln SP substitution exon 1 VAR_059436 P04731:p.Lys51Arg SP substitution exon 1 VAR_059437 Q2WGJ6:p.Gly310Ser SP substitution exon 1 VAR_059438 Q2WGJ6:p.Asn352Tyr SP substitution exon 1 VAR_059439 Q2WGJ6:p.Gly394Arg SP substitution exon 1 VAR_059440 Q2WGJ6:p.Cys504Tyr SP substitution exon 1 VAR_059441 Q5VTJ3:p.Arg160Ser SP substitution exon 1 VAR_059442 Q5VTJ3:p.Thr351Pro SP substitution exon 1 VAR_059443 P49223:p.Leu77Ser SP substitution exon 1 VAR_059444 Q16787:p.Phe1774Leu SP substitution exon 1 VAR_059445 Q16787:p.Ser2834Gly SP substitution exon 1 VAR_059446 A6NJ78:p.Ile267Phe SP substitution exon 1 VAR_059448 Q9UJ71:p.Ala300Pro SP substitution exon 1 VAR_059449 A5D8T8:p.Val118Ala SP substitution exon 1 VAR_059451 Q7RTP6:p.Pro11Ala SP substitution exon 1 VAR_059452 Q7RTP6:p.Arg745Gln SP substitution exon 1 VAR_059453 Q6UWW0:p.Ser152Ala SP substitution exon 1 VAR_059454 Q6UWW0:p.Lys164Glu SP substitution exon 1 VAR_059455 Q5SXM2:p.Asp44Asn SP substitution exon 1 VAR_059456 Q92993:p.Pro78Thr SP substitution exon 1 VAR_059457 Q9BXT6:p.Thr18Ser SP substitution exon 1 VAR_059458 Q7Z333:p.Thr1855Pro SP substitution exon 1 VAR_059460 Q13952:p.Thr297Ile SP substitution exon 1 VAR_059461 Q9Y2X3:p.Asn387Thr SP substitution exon 1 VAR_059462 Q9Y2X3:p.Ala389Pro SP substitution exon 1 VAR_059463 Q9Y2X3:p.Asp400Ala SP substitution exon 1 VAR_059464 Q9Y2X3:p.Thr508Pro SP substitution exon 1 VAR_059465 Q6P1Q9:p.Val68Ile SP substitution exon 1 VAR_059466 Q9H3U5:p.Ile271Thr SP substitution exon 1 VAR_059528 Q8IU60:p.Phe16Leu SP substitution exon 1 VAR_059530 P09486:p.Asn70Ser SP substitution exon 1 VAR_059538 Q9HC84:p.Thr1360Met SP substitution exon 1 VAR_059539 Q9HC84:p.Arg1401His SP substitution exon 1 VAR_059540 Q9HC84:p.Ala2027Thr SP substitution exon 1 VAR_059541 Q9HC84:p.Thr2559Met SP substitution exon 1 VAR_059542 Q6W4X9:p.Pro1578Ser SP substitution exon 1 VAR_059543 Q14432:p.Asp12Asn SP substitution exon 1 VAR_059544 P27815:p.Ala736Glu SP substitution exon 1 VAR_059545 P27815:p.His808Tyr SP substitution exon 1 VAR_059546 P30048:p.Arg170Gln SP substitution exon 1 VAR_059547 Q96PX9:p.Val37Ala SP substitution exon 1 VAR_059548 Q9UH65:p.Arg230Gly SP substitution exon 1 VAR_059550 Q9NTG1:p.Val26Ala SP substitution exon 1 VAR_059551 Q7Z442:p.Leu2119Ile SP substitution exon 1 VAR_059552 Q7Z442:p.Ser2139Phe SP substitution exon 1 VAR_059553 Q7Z442:p.Met2315Ile SP substitution exon 1 VAR_059554 O75051:p.Gln57Arg SP substitution exon 1 VAR_059555 O75051:p.Ala267Thr SP substitution exon 1 VAR_059556 O75051:p.Ala805Gly SP substitution exon 1 VAR_059557 O75051:p.Ala1443Thr SP substitution exon 1 VAR_059558 Q9Y4D7:p.His894Arg SP substitution exon 1 VAR_059560 Q8IVF2:p.Glu1856Asp SP substitution exon 1 VAR_059561 Q8IVF2:p.Leu2146Val SP substitution exon 1 VAR_059562 Q8IVF2:p.Glu2503Ala SP substitution exon 1 VAR_059563 Q8IVF2:p.Arg2862Ser SP substitution exon 1 VAR_059564 Q8IVF2:p.Asp3176Glu SP substitution exon 1 VAR_059565 Q8IVF2:p.Leu3177Val SP substitution exon 1 VAR_059566 Q8IVF2:p.Pro3336Leu SP substitution exon 1 VAR_059567 Q8IVF2:p.Val3363Ala SP substitution exon 1 VAR_059568 Q8IVF2:p.Asp3793Asn SP substitution exon 1 VAR_059569 Q8IVF2:p.Met3869Val SP substitution exon 1 VAR_059570 Q8IVF2:p.Lys3902Asn SP substitution exon 1 VAR_059571 Q8IVF2:p.Ala4085Val SP substitution exon 1 VAR_059572 Q8IVF2:p.Asp4198Asn SP substitution exon 1 VAR_059573 Q8IVF2:p.Leu4326Pro SP substitution exon 1 VAR_059574 Q8IVF2:p.Pro4478Leu SP substitution exon 1 VAR_059575 Q8TCU4:p.Ile1875Val SP substitution exon 1 VAR_059576 Q8TCU4:p.Arg2284Pro SP substitution exon 1 VAR_059577 Q8TCU4:p.Asn2856Ser SP substitution exon 1 VAR_059578 Q8TCU4:p.Lys3434Glu SP substitution exon 1 VAR_059579 Q96KT7:p.Gly46Asp SP substitution exon 1 VAR_059580 Q96KT7:p.Leu307Pro SP substitution exon 1 VAR_059581 P0C7Q6:p.Ala263Thr SP substitution exon 1 VAR_059583 Q66PJ3:p.Pro88Ala SP substitution exon 1 VAR_059585 Q86Y30:p.Arg95Thr SP substitution exon 1 VAR_059586 Q86Y30:p.Arg106Gln SP substitution exon 1 VAR_059589 Q9P281:p.Thr1137Ala SP substitution exon 1 VAR_059591 Q9NYF8:p.Gly66Ala SP substitution exon 1 VAR_059592 Q5T0J7:p.Leu171Pro SP substitution exon 1 VAR_059593 Q8N4P6:p.Ala533Thr SP substitution exon 1 VAR_059594 Q6IQ19:p.Ala123Val SP substitution exon 1 VAR_059596 Q4G0S7:p.Arg251His SP substitution exon 1 VAR_059597 Q8N6L0:p.Leu116Pro SP substitution exon 1 VAR_059598 Q8N6L0:p.Arg129Gln SP substitution exon 1 VAR_059600 Q9UL16:p.Glu291Gly SP substitution exon 1 VAR_059601 Q05D60:p.Glu440Gly SP substitution exon 1 VAR_059602 Q8IWY9:p.Gln107Leu SP substitution exon 1 VAR_059603 Q8NDZ2:p.Ser636Phe SP substitution exon 1 VAR_059605 Q8N655:p.Asn579Ser SP substitution exon 1 VAR_059606 Q8N655:p.Arg614Gly SP substitution exon 1 VAR_059607 Q8N655:p.Ala716Pro SP substitution exon 1 VAR_059608 Q711Q0:p.Phe698Ser SP substitution exon 1 VAR_059609 Q711Q0:p.Asp741Gly SP substitution exon 1 VAR_059610 Q711Q0:p.Asp883Asn SP substitution exon 1 VAR_059611 Q711Q0:p.Phe958Tyr SP substitution exon 1 VAR_059612 Q711Q0:p.Gly1084Ala SP substitution exon 1 VAR_059613 Q711Q0:p.Val1254Ile SP substitution exon 1 VAR_059614 Q711Q0:p.Gly1337Ser SP substitution exon 1 VAR_059615 Q5VZQ5:p.Glu38Gln SP substitution exon 1 VAR_059617 Q8TC90:p.Asp286Glu SP substitution exon 1 VAR_059618 Q8ND07:p.Arg58Gln SP substitution exon 1 VAR_059619 Q8ND07:p.Arg183Lys SP substitution exon 1 VAR_059620 Q8ND07:p.Asp230Val SP substitution exon 1 VAR_059621 Q9H867:p.Ala63Asp SP substitution exon 1 VAR_059622 Q9Y2V0:p.Leu73Val SP substitution exon 1 VAR_059623 Q9BUU2:p.Ala366Thr SP substitution exon 1 VAR_059624 Q8N635:p.Lys75Thr SP substitution exon 1 VAR_059625 Q6ZWJ8:p.Lys397Glu SP substitution exon 1 VAR_059626 Q6ZWJ8:p.Asp623Val SP substitution exon 1 VAR_059627 Q6ZWJ8:p.Pro1128Arg SP substitution exon 1 VAR_059628 Q5TZA2:p.Ala439Val SP substitution exon 1 VAR_059629 Q5TZA2:p.Asp586His SP substitution exon 1 VAR_059630 Q5TZA2:p.Arg1097Pro SP substitution exon 1 VAR_059631 Q6ZRH7:p.Leu29Pro SP substitution exon 1 VAR_059632 Q6ZRH7:p.Ser650Arg SP substitution exon 1 VAR_059637 Q5TEA3:p.Thr86Met SP substitution exon 1 VAR_059639 Q9H0A9:p.Pro113Leu SP substitution exon 1 VAR_059641 Q5THK1:p.Asn455Ser SP substitution exon 1 VAR_059642 Q5THK1:p.Leu740Pro SP substitution exon 1 VAR_059643 Q5THK1:p.Met876Ile SP substitution exon 1 VAR_059644 Q5THK1:p.Thr961Ile SP substitution exon 1 VAR_059645 Q5THK1:p.Asp963Asn SP substitution exon 1 VAR_059646 Q5THK1:p.Ser1151Pro SP substitution exon 1 VAR_059647 Q5THK1:p.Ser1221Leu SP substitution exon 1 VAR_059648 Q5THK1:p.Leu1395Phe SP substitution exon 1 VAR_059649 Q5THK1:p.Val1784Ile SP substitution exon 1 VAR_059650 B1ATL7:p.Met193Thr SP substitution exon 1 VAR_059651 O94850:p.Glu661Gly SP substitution exon 1 VAR_059652 Q6E0U4:p.Val91Ala SP substitution exon 1 VAR_059653 Q6E0U4:p.Gly280Ser SP substitution exon 1 VAR_059654 Q8NG57:p.Leu375Pro SP substitution exon 1 VAR_059655 Q9Y2H6:p.Ser107Gly SP substitution exon 1 VAR_059656 Q5JWF2:p.Arg1023Leu SP substitution exon 1 VAR_059657 Q9BRR8:p.Asp631Glu SP substitution exon 1 VAR_059658 Q9UKJ3:p.Arg1043Gln SP substitution exon 1 VAR_059659 Q9UKJ3:p.Cys1161Trp SP substitution exon 1 VAR_059660 O60269:p.Arg5His SP substitution exon 1 VAR_059661 O60269:p.Arg40His SP substitution exon 1 VAR_059662 O60269:p.Val47Met SP substitution exon 1 VAR_059663 O60269:p.Trp91Arg SP substitution exon 1 VAR_059664 O60269:p.Leu400Pro SP substitution exon 1 VAR_059665 Q9NZM4:p.Thr1044Ala SP substitution exon 1 VAR_059666 Q9ULT8:p.Gln656His SP substitution exon 1 VAR_059688 Q5JXC2:p.Arg247Trp SP substitution exon 1 VAR_059689 Q5JXC2:p.Ser288Leu SP substitution exon 1 VAR_059690 Q5JXC2:p.Pro381Ser SP substitution exon 1 VAR_059691 Q8NCW0:p.Ala408Pro SP substitution exon 1 VAR_059692 O00534:p.Ser202Gly SP substitution exon 1 VAR_059693 O00534:p.Glu205Lys SP substitution exon 1 VAR_059694 Q8IYG6:p.Arg300His SP substitution exon 1 VAR_059695 Q6NSJ5:p.Glu181Gly SP substitution exon 1 VAR_059696 Q6NSJ5:p.Met190Thr SP substitution exon 1 VAR_059697 Q8IX19:p.Val129Ile SP substitution exon 1 VAR_059698 Q86VD1:p.Asp462Glu SP substitution exon 1 VAR_059699 Q6X4W1:p.Leu511Val SP substitution exon 1 VAR_059700 Q9Y2I6:p.Gly79Val SP substitution exon 1 VAR_059701 Q9Y2I6:p.Ser191Arg SP substitution exon 1 VAR_059702 Q9Y2I6:p.Arg276Trp SP substitution exon 1 VAR_059703 Q9Y2I6:p.Thr296Ala SP substitution exon 1 VAR_059704 Q9Y2I6:p.Glu973Lys SP substitution exon 1 VAR_059705 O60287:p.Pro2071Arg SP substitution exon 1 VAR_059706 Q9NZT2:p.Arg545Ser SP substitution exon 1 VAR_059707 Q9GZY1:p.Ile73Thr SP substitution exon 1 VAR_059708 Q9H939:p.Asn322Asp SP substitution exon 1 VAR_059709 Q9H939:p.Asn322Ser SP substitution exon 1 VAR_059710 Q8IV56:p.Pro115Ser SP substitution exon 1 VAR_059711 Q9H0J4:p.Ile630Val SP substitution exon 1 VAR_059712 Q9H0J4:p.Val681Asp SP substitution exon 1 VAR_059713 Q9Y2K5:p.Thr35Ala SP substitution exon 1 VAR_059714 Q6WKZ4:p.Val651Ala SP substitution exon 1 VAR_059716 Q9NZJ4:p.Asn232Lys SP substitution exon 1 VAR_059717 Q9NZJ4:p.Ala694Thr SP substitution exon 1 VAR_059718 Q9NZJ4:p.Lys2017Asn SP substitution exon 1 VAR_059719 Q9NZJ4:p.Lys2958Arg SP substitution exon 1 VAR_059720 Q9NZJ4:p.Pro3678Ala SP substitution exon 1 VAR_059721 Q9NZJ4:p.Asn4217Asp SP substitution exon 1 VAR_059722 Q99590:p.Phe657Tyr SP substitution exon 1 VAR_059725 Q9H2D6:p.Ser217Asn SP substitution exon 1 VAR_059726 Q9H2D6:p.Ser493Asn SP substitution exon 1 VAR_059727 Q9H2D6:p.Phe1187Leu SP substitution exon 1 VAR_059728 Q9H2D6:p.His1300Arg SP substitution exon 1 VAR_059729 Q13428:p.Pro1176Arg SP substitution exon 1 VAR_059730 Q13428:p.Gly1280Arg SP substitution exon 1 VAR_059731 Q92734:p.Val43Phe SP substitution exon 1 VAR_059732 A5PLL7:p.Trp7Gly SP substitution exon 1 VAR_059733 Q92547:p.Ser817Leu SP substitution exon 1 VAR_059734 Q92547:p.Asn1042Ser SP substitution exon 1 VAR_059735 Q9HCN2:p.Ala7Val SP substitution exon 1 VAR_059736 Q5BVD1:p.Leu66Pro SP substitution exon 1 VAR_059737 Q9P2Y5:p.Pro10His SP substitution exon 1 VAR_059738 A6NCI4:p.Thr464Ile SP substitution exon 1 VAR_059739 Q5T750:p.Ser26Thr SP substitution exon 1 VAR_059740 Q5T750:p.Thr159Pro SP substitution exon 1 VAR_059741 Q49AG3:p.Ile480Val SP substitution exon 1 VAR_059742 P49643:p.Glu181Lys SP substitution exon 1 VAR_059743 P49643:p.Asp204Gly SP substitution exon 1 VAR_059744 P49643:p.Gly259Ser SP substitution exon 1 VAR_059745 P49643:p.Cys287Tyr SP substitution exon 1 VAR_059746 P49643:p.Asp435Gly SP substitution exon 1 VAR_059747 P49643:p.Gln446His SP substitution exon 1 VAR_059748 P49643:p.Pro465Ser SP substitution exon 1 VAR_059749 P35125:p.Val525Ile SP substitution exon 1 VAR_059750 Q6R6M4:p.Lys438Arg SP substitution exon 1 VAR_059751 Q70CQ3:p.His357Arg SP substitution exon 1 VAR_059752 Q86T82:p.Leu979Ser SP substitution exon 1 VAR_059754 Q9H9J4:p.Leu1030Pro SP substitution exon 1 VAR_059756 Q8NDH3:p.Lys303Arg SP substitution exon 1 VAR_059757 Q8NDH3:p.Leu513Val SP substitution exon 1 VAR_059758 Q2T9J0:p.Thr65Ala SP substitution exon 1 VAR_059761 P58397:p.Trp1177Arg SP substitution exon 1 VAR_059762 P58397:p.Ser1591Pro SP substitution exon 1 VAR_059763 Q6P087:p.Ala173Pro SP substitution exon 1 VAR_059764 P48426:p.Leu7Ile SP substitution exon 1 VAR_059765 Q9NSY1:p.Gln486His SP substitution exon 1 VAR_059766 P34947:p.Gln172His SP substitution exon 1 VAR_059767 Q9Y6R4:p.Arg157His SP substitution exon 1 VAR_059769 Q15772:p.Pro2189Leu SP substitution exon 1 VAR_059770 Q96PF2:p.Cys245Ser SP substitution exon 1 VAR_059773 Q9Y3S1:p.Arg974Leu SP substitution exon 1 VAR_059774 O14939:p.Gly821Ser SP substitution exon 1 VAR_059775 Q9UQK1:p.Ala109Ser SP substitution exon 1 VAR_059777 Q16690:p.Ala220Thr SP substitution exon 1 VAR_059778 Q16690:p.Ala220Val SP substitution exon 1 VAR_059779 Q9Y216:p.Pro44Ala SP substitution exon 1 VAR_059780 Q8TCT7:p.Ser574Pro SP substitution exon 1 VAR_059781 P22670:p.Thr370Ala SP substitution exon 1 VAR_059782 Q9HBA9:p.Asn151Lys SP substitution exon 1 VAR_059783 P09093:p.His24Arg SP substitution exon 1 VAR_059784 P09093:p.Ser25Pro SP substitution exon 1 VAR_059785 P09093:p.His31Asn SP substitution exon 1 VAR_059787 P26927:p.Ser551Gly SP substitution exon 1 VAR_059789 P00739:p.Ala156Val SP substitution exon 1 VAR_059790 Q8NE18:p.Thr622Ala SP substitution exon 1 VAR_059791 P31213:p.Gly203Ser SP substitution exon 1 VAR_059792 P31213:p.Leu224His SP substitution exon 1 VAR_059796 Q5VV41:p.Val137Met SP substitution exon 1 VAR_059797 Q5VV41:p.His370Tyr SP substitution exon 1 VAR_059798 Q5TB30:p.Ile404Arg SP substitution exon 1 VAR_059799 Q6ZNL6:p.Gly403Arg SP substitution exon 1 VAR_059800 Q6ZNL6:p.Ala828Thr SP substitution exon 1 VAR_059801 Q6ZNL6:p.Glu941Lys SP substitution exon 1 VAR_059802 O75962:p.Asp348Glu SP substitution exon 1 VAR_059803 O75962:p.Ala1613Thr SP substitution exon 1 VAR_059804 Q9BZW2:p.Thr240Met SP substitution exon 1 VAR_059805 Q6NUI6:p.Gln710Arg SP substitution exon 1 VAR_059806 Q96FT7:p.Val619Ala SP substitution exon 1 VAR_059808 Q96DV4:p.Arg99Trp SP substitution exon 1 VAR_059809 P30203:p.Thr217Met SP substitution exon 1 VAR_059811 Q9P2P6:p.Arg835Cys SP substitution exon 1 VAR_059812 P42226:p.Asp419Asn SP substitution exon 1 VAR_059813 Q9H270:p.Val770Ile SP substitution exon 1 VAR_059814 O75679:p.Tyr181Cys SP substitution exon 1 VAR_059815 Q495C1:p.Val263Ile SP substitution exon 1 VAR_059816 Q8IWV8:p.Ala1095Pro SP substitution exon 1 VAR_059817 Q8IWV8:p.Ala1095Ser SP substitution exon 1 VAR_059818 Q86UK7:p.Ala608Thr SP substitution exon 1 VAR_059819 Q9Y2C2:p.Met21Leu SP substitution exon 1 VAR_059820 P10153:p.His100Gln SP substitution exon 1 VAR_059821 Q9NQ94:p.Ala558Ser SP substitution exon 1 VAR_059822 Q9Y4C8:p.Gln602Glu SP substitution exon 1 VAR_059824 O60812:p.Asp81Val SP substitution exon 1 VAR_059826 Q6XYQ8:p.Ser172Ile SP substitution exon 1 VAR_059827 O95936:p.Ala120Gly SP substitution exon 1 VAR_059828 O94901:p.His118Tyr SP substitution exon 1 VAR_059829 Q969E4:p.Gln87Glu SP substitution exon 1 VAR_059830 Q86TX2:p.Arg266His SP substitution exon 1 VAR_059831 O14763:p.Val191Ala SP substitution exon 1 VAR_059832 Q9BXR5:p.Ile775Phe SP substitution exon 1 VAR_059833 Q9BXR5:p.Ile775Val SP substitution exon 1 VAR_059834 Q9BXR5:p.Arg799Leu SP substitution exon 1 VAR_059835 Q9BXR5:p.Arg799Pro SP substitution exon 1 VAR_059836 Q9NZQ8:p.Arg578Gln SP substitution exon 1 VAR_059837 Q7Z2W7:p.Ser419Asn SP substitution exon 1 VAR_059838 Q9Y5S1:p.Asn764Ser SP substitution exon 1 VAR_059840 B1AH88:p.His53Arg SP substitution exon 1 VAR_059841 Q9NRJ4:p.Arg199Ser SP substitution exon 1 VAR_059843 Q9NTJ3:p.Glu415Asp SP substitution exon 1 VAR_059844 P22310:p.Arg11Trp SP substitution exon 1 VAR_059845 P35504:p.Asp50Glu SP substitution exon 1 VAR_059846 P35504:p.His142Asn SP substitution exon 1 VAR_059847 Q9BY64:p.Leu365His SP substitution exon 1 VAR_059848 Q6UXZ4:p.Arg728Lys SP substitution exon 1 VAR_059849 Q86WB7:p.Met403Ile SP substitution exon 1 VAR_059850 Q9H1C4:p.Tyr436Cys SP substitution exon 1 VAR_059852 Q8TDB8:p.Gly506Glu SP substitution exon 1 VAR_059853 Q6IMI4:p.Leu150Phe SP substitution exon 1 VAR_059855 O60343:p.Val819Ile SP substitution exon 1 VAR_059856 Q9P2M4:p.Glu446Gln SP substitution exon 1 VAR_059858 Q9H0A0:p.Tyr461His SP substitution exon 1 VAR_059859 Q7Z5Y6:p.Met84Val SP substitution exon 1 VAR_059860 Q15785:p.Arg293Lys SP substitution exon 1 VAR_059861 Q8NDW8:p.Arg719His SP substitution exon 1 VAR_059862 Q9NSE4:p.Ala14Val SP substitution exon 1 VAR_059863 A2VEC9:p.Val539Met SP substitution exon 1 VAR_059864 A2VEC9:p.Ser1272Pro SP substitution exon 1 VAR_059865 A2VEC9:p.Ser1424Gly SP substitution exon 1 VAR_059866 A2VEC9:p.Pro1448Gln SP substitution exon 1 VAR_059867 A2VEC9:p.Pro1453Arg SP substitution exon 1 VAR_059868 A2VEC9:p.Ser1778Pro SP substitution exon 1 VAR_059869 A2VEC9:p.Leu1793Pro SP substitution exon 1 VAR_059870 A2VEC9:p.Arg1882Cys SP substitution exon 1 VAR_059871 A2VEC9:p.Thr2017Met SP substitution exon 1 VAR_059872 A2VEC9:p.Leu2891Val SP substitution exon 1 VAR_059873 A2VEC9:p.Arg3273Trp SP substitution exon 1 VAR_059874 A2VEC9:p.Asn3512Ser SP substitution exon 1 VAR_059875 A2VEC9:p.Cys3892Trp SP substitution exon 1 VAR_059876 A2VEC9:p.Arg3909Cys SP substitution exon 1 VAR_059877 A2VEC9:p.Ser4028Ile SP substitution exon 1 VAR_059878 A2VEC9:p.His4164Arg SP substitution exon 1 VAR_059879 A2VEC9:p.Arg4330Cys SP substitution exon 1 VAR_059880 A2VEC9:p.His4787Arg SP substitution exon 1 VAR_059881 A2VEC9:p.Glu4941Lys SP substitution exon 1 VAR_059883 Q9BY14:p.Gly99Val SP substitution exon 1 VAR_059884 B3GLJ2:p.Thr30Lys SP substitution exon 1 VAR_059885 Q6UWN5:p.Ala90Pro SP substitution exon 1 VAR_059886 Q6UWN5:p.Asn167Ser SP substitution exon 1 VAR_059887 Q9BXA9:p.Thr533Ala SP substitution exon 1 VAR_059888 O43474:p.Thr315Ser SP substitution exon 1 VAR_059889 O43474:p.Leu321Phe SP substitution exon 1 VAR_059890 Q9H116:p.Gln275Leu SP substitution exon 1 VAR_059891 Q9H116:p.Gln275Arg SP substitution exon 1 VAR_059892 P15822:p.Thr2444Met SP substitution exon 1 VAR_059893 P15822:p.Ala2692Gly SP substitution exon 1 VAR_059894 Q96MX3:p.Gln21Arg SP substitution exon 1 VAR_059895 Q15935:p.Ile5Val SP substitution exon 1 VAR_059896 Q15937:p.Ser401Asn SP substitution exon 1 VAR_059897 Q05481:p.Phe455Ile SP substitution exon 1 VAR_059898 Q05481:p.Leu1164Pro SP substitution exon 1 VAR_059899 Q05481:p.Leu1164Val SP substitution exon 1 VAR_059900 Q16670:p.Tyr59Cys SP substitution exon 1 VAR_059901 Q16670:p.Arg73Gln SP substitution exon 1 VAR_059902 Q16670:p.Glu83Lys SP substitution exon 1 VAR_059906 O75437:p.Lys537Asn SP substitution exon 1 VAR_059907 Q14586:p.Cys350Tyr SP substitution exon 1 VAR_059908 Q9NRM2:p.Val174Ile SP substitution exon 1 VAR_059909 Q2VY69:p.Glu577Lys SP substitution exon 1 VAR_059911 Q96LW9:p.Gly365Glu SP substitution exon 1 VAR_059913 Q96SE7:p.Asn264Asp SP substitution exon 1 VAR_059914 Q86W11:p.Gln238Pro SP substitution exon 1 VAR_059915 Q8IYI8:p.Leu43Ile SP substitution exon 1 VAR_059916 Q8IYI8:p.Asn124Ser SP substitution exon 1 VAR_059917 Q9Y2A4:p.Lys111Asn SP substitution exon 1 VAR_059918 Q9Y2A4:p.Cys485Phe SP substitution exon 1 VAR_059919 Q8N9F8:p.Cys152Tyr SP substitution exon 1 VAR_059920 Q8NCK3:p.Ala252Thr SP substitution exon 1 VAR_059921 Q6P9A3:p.Ile8Asn SP substitution exon 1 VAR_059922 Q6V9R5:p.Glu260Lys SP substitution exon 1 VAR_059923 Q52M93:p.Val467Ile SP substitution exon 1 VAR_059924 O00488:p.Arg6Gln SP substitution exon 1 VAR_059925 Q6ZNG1:p.Thr13Arg SP substitution exon 1 VAR_059926 Q6ZNG1:p.Cys209Arg SP substitution exon 1 VAR_059927 Q8N823:p.Pro252Thr SP substitution exon 1 VAR_059928 Q96BR6:p.Gly460Ser SP substitution exon 1 VAR_059929 Q6ZN79:p.Thr126Ala SP substitution exon 1 VAR_059930 Q6ZN79:p.Arg134Cys SP substitution exon 1 VAR_059931 Q6ZN79:p.Arg186His SP substitution exon 1 VAR_059933 Q3SXZ3:p.Lys140Asn SP substitution exon 1 VAR_059934 Q3SXZ3:p.Lys140Arg SP substitution exon 1 VAR_059935 Q3SXZ3:p.Ser297Tyr SP substitution exon 1 VAR_059936 Q3SXZ3:p.Arg413His SP substitution exon 1 VAR_059937 Q96BV0:p.Thr428Ala SP substitution exon 1 VAR_059938 A4D1E1:p.Phe634Ile SP substitution exon 1 VAR_059941 Q08AG5:p.Val113Met SP substitution exon 1 VAR_059942 Q08AG5:p.Arg146His SP substitution exon 1 VAR_059943 Q08AG5:p.Lys226Glu SP substitution exon 1 VAR_059944 Q08AG5:p.Thr276Ala SP substitution exon 1 VAR_059945 Q08AG5:p.Ala308Pro SP substitution exon 1 VAR_059946 Q08AG5:p.Val329Ala SP substitution exon 1 VAR_059949 Q8IWY8:p.Arg104Gly SP substitution exon 1 VAR_059950 Q9BRR0:p.Lys200Ala SP substitution exon 1 VAR_059951 Q969J2:p.Ser33Phe SP substitution exon 1 VAR_059952 Q9BVL4:p.Val3Ala SP substitution exon 1 VAR_059953 Q9BVL4:p.Thr167Asn SP substitution exon 1 VAR_059956 Q9Y6U3:p.His61Arg SP substitution exon 1 VAR_059957 Q9Y6U3:p.Ala443Pro SP substitution exon 1 VAR_059959 Q5VIR6:p.Leu328Ile SP substitution exon 1 VAR_059960 Q8TB24:p.His215Leu SP substitution exon 1 VAR_059961 Q8TB24:p.His215Arg SP substitution exon 1 VAR_059962 Q8IUB2:p.Gly198Ser SP substitution exon 1 VAR_059963 Q01831:p.Lys511Gln SP substitution exon 1 VAR_059964 Q13433:p.Glu119Asp SP substitution exon 1 VAR_059965 O75443:p.Ser1878Arg SP substitution exon 1 VAR_059969 Q5SW24:p.Glu351Gly SP substitution exon 1 VAR_059970 Q5SW24:p.Thr541Pro SP substitution exon 1 VAR_059971 Q14185:p.Ala1793Thr SP substitution exon 1 VAR_059972 Q8NF50:p.Glu169Lys SP substitution exon 1 VAR_059973 Q9H201:p.Pro544Thr SP substitution exon 1 VAR_059975 Q8NHY3:p.Ala164Val SP substitution exon 1 VAR_059976 O00451:p.Leu462Gln SP substitution exon 1 VAR_059978 Q8NGS3:p.Asn318Ser SP substitution exon 1 VAR_059979 Q8NH93:p.Arg54Gly SP substitution exon 1 VAR_059980 Q8NGQ3:p.Val225Ala SP substitution exon 1 VAR_059981 Q8NGQ3:p.Val225Ile SP substitution exon 1 VAR_059982 Q6IF42:p.Gln5Lys SP substitution exon 1 VAR_059983 Q6IF42:p.Phe280Leu SP substitution exon 1 VAR_059984 Q96R48:p.Ala255Thr SP substitution exon 1 VAR_059985 Q9H205:p.Arg299Gly SP substitution exon 1 VAR_059986 Q9H205:p.Arg299Trp SP substitution exon 1 VAR_059987 Q8NGY9:p.Gly196Cys SP substitution exon 1 VAR_059988 Q8NGY9:p.Ala202Thr SP substitution exon 1 VAR_059989 Q8NGY9:p.Lys294Arg SP substitution exon 1 VAR_059990 Q96R28:p.Arg220Gly SP substitution exon 1 VAR_059991 Q96R28:p.Cys235Arg SP substitution exon 1 VAR_059992 Q8NG81:p.Phe35Leu SP substitution exon 1 VAR_059993 Q8NG81:p.Asp191Asn SP substitution exon 1 VAR_059994 Q9NQN1:p.Arg17Gly SP substitution exon 1 VAR_059995 Q9NQN1:p.Val30Met SP substitution exon 1 VAR_059996 Q9NQN1:p.Pro89Ser SP substitution exon 1 VAR_059997 Q9NQN1:p.Arg123His SP substitution exon 1 VAR_059998 Q9NQN1:p.Met143Val SP substitution exon 1 VAR_059999 Q9NQN1:p.Thr161Ala SP substitution exon 1 VAR_060000 Q9NQN1:p.Val287Ala SP substitution exon 1 VAR_060001 Q8NHC8:p.Asn21Asp SP substitution exon 1 VAR_060002 Q8NHC8:p.Cys23Gly SP substitution exon 1 VAR_060003 Q8NG77:p.Ala41Ser SP substitution exon 1 VAR_060004 Q8NG77:p.Met69Val SP substitution exon 1 VAR_060005 Q8NG77:p.Thr104Ser SP substitution exon 1 VAR_060006 Q8NG77:p.Arg301Leu SP substitution exon 1 VAR_060007 Q8NH90:p.Ser43Thr SP substitution exon 1 VAR_060008 Q8NGV6:p.Ser88Leu SP substitution exon 1 VAR_060009 Q8NGV6:p.Ser88Trp SP substitution exon 1 VAR_060010 Q8NGP8:p.Ser282Thr SP substitution exon 1 VAR_060011 Q96RD0:p.Leu164Phe SP substitution exon 1 VAR_060012 Q8N146:p.Leu47Ile SP substitution exon 1 VAR_060013 Q8NGP2:p.Tyr120Cys SP substitution exon 1 VAR_060022 Q9H208:p.His43Arg SP substitution exon 1 VAR_060023 Q9H209:p.Leu206Pro SP substitution exon 1 VAR_060025 Q8NGN3:p.Tyr101Cys SP substitution exon 1 VAR_060026 Q8NGN3:p.Gly146Cys SP substitution exon 1 VAR_060027 Q8NGN3:p.Gly146Arg SP substitution exon 1 VAR_060028 Q8NGN3:p.Gly146Ser SP substitution exon 1 VAR_060029 Q8NGN4:p.His228Arg SP substitution exon 1 VAR_060030 Q8NGS9:p.Ser160Thr SP substitution exon 1 VAR_060031 Q8NGS9:p.Lys301Glu SP substitution exon 1 VAR_060032 Q8NGS8:p.Leu69Met SP substitution exon 1 VAR_060033 Q8NGS8:p.Leu86Val SP substitution exon 1 VAR_060034 Q8NGS8:p.Val117Met SP substitution exon 1 VAR_060035 Q9H340:p.Arg125His SP substitution exon 1 VAR_060036 Q9H340:p.Ser126Asn SP substitution exon 1 VAR_060037 A6NGY5:p.Ser233Phe SP substitution exon 1 VAR_060038 Q8NGK4:p.Gln52Arg SP substitution exon 1 VAR_060039 Q8NGK4:p.Arg153Trp SP substitution exon 1 VAR_060040 Q99698:p.Thr2116Met SP substitution exon 1 VAR_060041 Q9BSC4:p.Asp635Asn SP substitution exon 1 VAR_060042 Q64LD2:p.Lys59Arg SP substitution exon 1 VAR_060043 Q64LD2:p.Thr119Met SP substitution exon 1 VAR_060044 Q8TBY9:p.Gly66Glu SP substitution exon 1 VAR_060045 Q3MJ13:p.Met100Val SP substitution exon 1 VAR_060046 Q3LI67:p.Tyr44Ser SP substitution exon 1 VAR_060049 P60371:p.Cys68Ser SP substitution exon 1 VAR_060050 P60371:p.Pro74Ser SP substitution exon 1 VAR_060052 P60411:p.Arg257Cys SP substitution exon 1 VAR_060053 P60014:p.Thr86Ser SP substitution exon 1 VAR_060054 P60014:p.Cys126Ser SP substitution exon 1 VAR_060055 P60014:p.Gln129Pro SP substitution exon 1 VAR_060056 P60412:p.Ser130Phe SP substitution exon 1 VAR_060057 P59991:p.Ala16Thr SP substitution exon 1 VAR_060058 P59991:p.Ala16Val SP substitution exon 1 VAR_060059 P59991:p.Ser29Cys SP substitution exon 1 VAR_060060 Q3LI61:p.Tyr7His SP substitution exon 1 VAR_060061 Q3LI61:p.Tyr13Cys SP substitution exon 1 VAR_060062 Q3LI61:p.Val17Gly SP substitution exon 1 VAR_060063 Q3LHN0:p.Ser40Pro SP substitution exon 1 VAR_060064 Q9NS86:p.Thr56Pro SP substitution exon 1 VAR_060065 Q5T752:p.Asn59Ser SP substitution exon 1 VAR_060066 Q5T753:p.Ser59Gly SP substitution exon 1 VAR_060067 Q96DA0:p.Met133Val SP substitution exon 1 VAR_060068 O60732:p.His327Gln SP substitution exon 1 VAR_060069 Q8TD91:p.Ser155Pro SP substitution exon 1 VAR_060070 Q9Y5V3:p.Leu238Met SP substitution exon 1 VAR_060071 Q9HCI5:p.Glu339Asp SP substitution exon 1 VAR_060073 Q9Y618:p.Gly781Glu SP substitution exon 1 VAR_060075 P78316:p.Gln716Arg SP substitution exon 1 VAR_060076 Q9Y6K5:p.Arg18Lys SP substitution exon 1 VAR_060077 Q9Y6K5:p.Arg18Met SP substitution exon 1 VAR_060078 Q9Y6K5:p.Arg18Thr SP substitution exon 1 VAR_060079 Q9H0X9:p.Thr90Ile SP substitution exon 1 VAR_060080 Q9BZF2:p.Met148Ile SP substitution exon 1 VAR_060081 Q9BZF2:p.Ala169Glu SP substitution exon 1 VAR_060083 Q9UBM1:p.Val58Leu SP substitution exon 1 VAR_060085 Q9BRR6:p.Lys184Arg SP substitution exon 1 VAR_060086 Q5H8A4:p.Val731Ile SP substitution exon 1 VAR_060087 Q5H8A4:p.Ile881Thr SP substitution exon 1 VAR_060088 Q15149:p.Leu1321Val SP substitution exon 1 VAR_060089 Q15149:p.Arg1386Gln SP substitution exon 1 VAR_060090 O00592:p.Pro298Ala SP substitution exon 1 VAR_060091 O95521:p.Pro218Ser SP substitution exon 1 VAR_060092 O95521:p.Ala372Gly SP substitution exon 1 VAR_060093 O60811:p.Arg33Ser SP substitution exon 1 VAR_060094 P49788:p.Asp42Gly SP substitution exon 1 VAR_060095 P59047:p.Met459Ile SP substitution exon 1 VAR_060096 P59047:p.His584Pro SP substitution exon 1 VAR_060097 P59047:p.Arg761Leu SP substitution exon 1 VAR_060098 P59047:p.Met912Thr SP substitution exon 1 VAR_060099 P59047:p.Ala1097Thr SP substitution exon 1 VAR_060100 P59047:p.Ser1108Cys SP substitution exon 1 VAR_060101 P59047:p.Val1181Ile SP substitution exon 1 VAR_060103 Q8WX94:p.Gly487Glu SP substitution exon 1 VAR_060104 P33076:p.Ser781Leu SP substitution exon 1 VAR_060106 P55017:p.Arg854Lys SP substitution exon 1 VAR_060107 O95907:p.Arg235Trp SP substitution exon 1 VAR_060108 Q9Y6L6:p.Ile245Val SP substitution exon 1 VAR_060109 Q96PQ0:p.Gly345Arg SP substitution exon 1 VAR_060110 Q96PQ0:p.Thr695Met SP substitution exon 1 VAR_060111 Q96PQ0:p.Thr745Ile SP substitution exon 1 VAR_060113 Q7RTT3:p.Ser97Pro SP substitution exon 1 VAR_060114 Q8N3U4:p.Asn699Lys SP substitution exon 1 VAR_060115 Q6L8H2:p.Gly27Ser SP substitution exon 1 VAR_060116 Q6L8H2:p.Tyr28Cys SP substitution exon 1 VAR_060117 Q6L8H2:p.Cys73Ser SP substitution exon 1 VAR_060118 Q6L8H2:p.Gly76Val SP substitution exon 1 VAR_060119 Q6L8H2:p.Ser83Cys SP substitution exon 1 VAR_060122 Q9HBH1:p.Trp11Arg SP substitution exon 1 VAR_060123 Q6ICH7:p.Asn235Ser SP substitution exon 1 VAR_060124 Q569K6:p.Asp51Asn SP substitution exon 1 VAR_060126 A1L190:p.Leu88Pro SP substitution exon 1 VAR_060127 A6NKC9:p.Met137Thr SP substitution exon 1 VAR_060128 A6NKC9:p.Arg206Trp SP substitution exon 1 VAR_060129 Q9NT68:p.Asn728Ser SP substitution exon 1 VAR_060130 Q6N022:p.Val396Ile SP substitution exon 1 VAR_060131 Q6N022:p.Glu506Gln SP substitution exon 1 VAR_060132 Q5VWP2:p.His67Gln SP substitution exon 1 VAR_060133 Q9H694:p.Asn945Ser SP substitution exon 1 VAR_060134 Q9P225:p.Arg2904His SP substitution exon 1 VAR_060135 Q8IVF4:p.Ser167Pro SP substitution exon 1 VAR_060136 Q8IVF4:p.Thr1724Met SP substitution exon 1 VAR_060137 Q8IVF4:p.Asp1767Glu SP substitution exon 1 VAR_060138 Q8IVF4:p.Arg1865Lys SP substitution exon 1 VAR_060139 Q8IVF4:p.Arg2403Trp SP substitution exon 1 VAR_060140 Q8IVF4:p.Asn2483Ser SP substitution exon 1 VAR_060142 Q6ZR08:p.Thr467Pro SP substitution exon 1 VAR_060143 Q6ZR08:p.Asp1549Asn SP substitution exon 1 VAR_060144 Q6ZR08:p.Tyr1704His SP substitution exon 1 VAR_060145 Q6ZR08:p.Arg1748Cys SP substitution exon 1 VAR_060146 Q6ZR08:p.Lys1754Asn SP substitution exon 1 VAR_060147 Q6ZR08:p.Thr1763Ile SP substitution exon 1 VAR_060148 A8MYU2:p.Asp175Asn SP substitution exon 1 VAR_060149 Q9NWR8:p.Ile63Asn SP substitution exon 1 VAR_060150 Q9BQ89:p.Leu284Ile SP substitution exon 1 VAR_060151 Q9H5Z6:p.Ile257Thr SP substitution exon 1 VAR_060154 Q86YD7:p.Arg343Ser SP substitution exon 1 VAR_060155 Q86YD7:p.Thr410Ala SP substitution exon 1 VAR_060158 Q96KR4:p.Glu106Asp SP substitution exon 1 VAR_060159 Q7Z7L7:p.Thr539Ile SP substitution exon 1 VAR_060160 Q96G04:p.Arg270Trp SP substitution exon 1 VAR_060161 Q9NXB0:p.Leu39Phe SP substitution exon 1 VAR_060162 Q9BWD3:p.Ser48Cys SP substitution exon 1 VAR_060163 Q96JK4:p.Val692Ala SP substitution exon 1 VAR_060164 Q2TAL5:p.Trp251Arg SP substitution exon 1 VAR_060165 Q9NW81:p.Cys159Ser SP substitution exon 1 VAR_060166 Q9Y5R2:p.Arg564His SP substitution exon 1 VAR_060167 Q96BN6:p.Gly571Arg SP substitution exon 1 VAR_060168 Q674X7:p.Ala706Thr SP substitution exon 1 VAR_060169 Q674X7:p.Arg763Cys SP substitution exon 1 VAR_060170 P42858:p.Gly893Arg SP substitution exon 1 VAR_060171 P42858:p.Val1064Ile SP substitution exon 1 VAR_060172 P42858:p.Ile1091Met SP substitution exon 1 VAR_060173 P42858:p.Thr1173Ala SP substitution exon 1 VAR_060174 P42858:p.Thr1260Met SP substitution exon 1 VAR_060175 P42858:p.Asn1385His SP substitution exon 1 VAR_060176 P42858:p.Thr1720Asn SP substitution exon 1 VAR_060177 P42858:p.Asp2113Tyr SP substitution exon 1 VAR_060178 P42858:p.Tyr2309His SP substitution exon 1 VAR_060179 P42858:p.Val2786Ile SP substitution exon 1 VAR_060180 Q3B820:p.Ile107Met SP substitution exon 1 VAR_060183 Q969H8:p.Gly12Arg SP substitution exon 1 VAR_060184 Q4VXU2:p.Ser492Gly SP substitution exon 1 VAR_060185 P0CB38:p.Val192Ile SP substitution exon 1 VAR_060186 P0CB38:p.Ser331Asn SP substitution exon 1 VAR_060187 P0CB38:p.His370Pro SP substitution exon 1 VAR_060190 Q7Z6L1:p.Ser733Tyr SP substitution exon 1 VAR_060191 Q9H6W3:p.Gln239His SP substitution exon 1 VAR_060192 A6NFK2:p.Leu181Phe SP substitution exon 1 VAR_060194 Q9Y5U2:p.Arg124Gln SP substitution exon 1 VAR_060195 Q537H7:p.Ile8Thr SP substitution exon 1 VAR_060196 Q8N2C7:p.Asp1505Gly SP substitution exon 1 VAR_060197 P11678:p.Arg326His SP substitution exon 1 VAR_060198 P11678:p.Arg326Leu SP substitution exon 1 VAR_060199 Q9UQ13:p.Ser2Gly SP substitution exon 1 VAR_060200 Q969S9:p.Pro425His SP substitution exon 1 VAR_060201 Q969S9:p.Glu594Gly SP substitution exon 1 VAR_060202 Q969S9:p.Glu735Gly SP substitution exon 1 VAR_060203 Q9BX79:p.Gly217Glu SP substitution exon 1 VAR_060204 Q9BX79:p.Gln438Arg SP substitution exon 1 VAR_060206 P41180:p.Glu354Ala SP substitution exon 1 VAR_060207 P41180:p.Ile686Val SP substitution exon 1 VAR_060208 P41180:p.Arg898Gln SP substitution exon 1 VAR_060209 P41180:p.Ala988Gly SP substitution exon 1 VAR_060210 P41180:p.Ala988Val SP substitution exon 1 VAR_060211 P59536:p.Pro127Leu SP substitution exon 1 VAR_060212 P59045:p.Ala188Ser SP substitution exon 1 VAR_060216 P57789:p.Lys70Gln SP substitution exon 1 VAR_060217 O94972:p.Leu76Pro SP substitution exon 1 VAR_060218 O94972:p.Thr108Ala SP substitution exon 1 VAR_060219 O94972:p.Cys109Ser SP substitution exon 1 VAR_060220 O94972:p.Gly322Val SP substitution exon 1 VAR_060221 Q96N76:p.Arg450Cys SP substitution exon 1 VAR_060222 O43488:p.Glu180Lys SP substitution exon 1 VAR_060223 Q6URK8:p.Ser260Asn SP substitution exon 1 VAR_060224 Q96AP0:p.Thr301Met SP substitution exon 1 VAR_060225 Q96AP0:p.Val518Ala SP substitution exon 1 VAR_060226 Q9UPN4:p.Ile70Val SP substitution exon 1 VAR_060227 Q9UPN4:p.Thr272Ala SP substitution exon 1 VAR_060228 Q9UPN4:p.Thr397Ala SP substitution exon 1 VAR_060229 Q9UPN4:p.Val473Ala SP substitution exon 1 VAR_060230 Q9H4A9:p.Pro201Arg SP substitution exon 1 VAR_060231 Q8TE60:p.Tyr191His SP substitution exon 1 VAR_060232 Q8TE60:p.Leu626Ile SP substitution exon 1 VAR_060233 Q12887:p.Arg159Gln SP substitution exon 1 VAR_060235 Q9Y2R4:p.Met403Val SP substitution exon 1 VAR_060236 Q7Z3Y7:p.Ala62Val SP substitution exon 1 VAR_060237 Q14532:p.Glu151Asp SP substitution exon 1 VAR_060238 Q14532:p.Arg280His SP substitution exon 1 VAR_060239 Q14532:p.Asn402Ser SP substitution exon 1 VAR_060240 Q14532:p.Pro427Thr SP substitution exon 1 VAR_060241 Q9BYR5:p.Tyr95Cys SP substitution exon 1 VAR_060242 Q9BYQ2:p.Ser146Tyr SP substitution exon 1 VAR_060243 Q9P2A4:p.Ser203Phe SP substitution exon 1 VAR_060244 Q8WXE0:p.Glu891Gly SP substitution exon 1 VAR_060245 Q6PJ69:p.Val222Gly SP substitution exon 1 VAR_060246 Q6PJ69:p.Leu509Pro SP substitution exon 1 VAR_060247 Q9ULB5:p.Asn576Ser SP substitution exon 1 VAR_060248 Q02413:p.Met11Val SP substitution exon 1 VAR_060249 Q02413:p.Asp828Asn SP substitution exon 1 VAR_060250 Q9Y2L5:p.Leu137Ser SP substitution exon 1 VAR_060251 Q9Y2L5:p.Ser517Gly SP substitution exon 1 VAR_060252 Q9Y2L5:p.Arg954His SP substitution exon 1 VAR_060253 Q9Y2L5:p.Thr1146Ala SP substitution exon 1 VAR_060254 Q9Y2L5:p.Ser1298Pro SP substitution exon 1 VAR_060255 Q15849:p.Ile132Val SP substitution exon 1 VAR_060256 Q15849:p.Arg510Gln SP substitution exon 1 VAR_060257 P43146:p.Phe23Leu SP substitution exon 1 VAR_060258 P43146:p.Leu679Arg SP substitution exon 1 VAR_060260 Q15238:p.Leu18Val SP substitution exon 1 VAR_060261 Q15238:p.Thr168Ile SP substitution exon 1 VAR_060262 Q15238:p.Arg227His SP substitution exon 1 VAR_060265 Q9HBI6:p.Arg146Cys SP substitution exon 1 VAR_060266 Q9HBI6:p.Cys276Arg SP substitution exon 1 VAR_060267 Q9HBI6:p.Asp284Asn SP substitution exon 1 VAR_060269 Q96SL8:p.Thr391Ala SP substitution exon 1 VAR_060270 Q66K89:p.Arg167His SP substitution exon 1 VAR_060271 Q66K89:p.Val355Ile SP substitution exon 1 VAR_060272 Q12901:p.Ile157Phe SP substitution exon 1 VAR_060273 Q12901:p.Arg251His SP substitution exon 1 VAR_060274 Q9HCG1:p.Pro82Arg SP substitution exon 1 VAR_060275 Q8TAU3:p.Asn495Ser SP substitution exon 1 VAR_060276 Q9HA65:p.Asp84Gly SP substitution exon 1 VAR_060277 Q9BT49:p.Ala115Pro SP substitution exon 1 VAR_060278 Q52MB2:p.Glu140Asp SP substitution exon 1 VAR_060279 Q96LK8:p.Val142Met SP substitution exon 1 VAR_060280 Q6ZTR5:p.Cys345Arg SP substitution exon 1 VAR_060281 Q6ZTR5:p.Ala561Thr SP substitution exon 1 VAR_060282 Q6ZTR5:p.His634Tyr SP substitution exon 1 VAR_060283 Q6ZTR5:p.Phe964Leu SP substitution exon 1 VAR_060284 Q9H1Z4:p.His325Arg SP substitution exon 1 VAR_060285 Q17RR3:p.Val381Ile SP substitution exon 1 VAR_060286 Q17RR3:p.Arg382Gly SP substitution exon 1 VAR_060287 Q6T423:p.Met486Val SP substitution exon 1 VAR_060288 Q92543:p.Val361Leu SP substitution exon 1 VAR_060289 Q92543:p.Asp396Glu SP substitution exon 1 VAR_060290 Q92543:p.Leu618Phe SP substitution exon 1 VAR_060291 Q92543:p.Asn753Ser SP substitution exon 1 VAR_060292 Q92543:p.Leu878Arg SP substitution exon 1 VAR_060293 Q86YD7:p.Arg123Gly SP substitution exon 1 VAR_060294 Q86YD7:p.Pro334Leu SP substitution exon 1 VAR_060295 Q86YD7:p.Thr348Ile SP substitution exon 1 VAR_060296 Q99766:p.Pro18Leu SP substitution exon 1 VAR_060297 Q92526:p.Arg17Gln SP substitution exon 1 VAR_060298 Q92526:p.Val48Ala SP substitution exon 1 VAR_060299 Q3SY17:p.Leu239Ile SP substitution exon 1 VAR_060311 O75396:p.Asp71Tyr SP substitution exon 1 VAR_060312 O75396:p.Thr82Lys SP substitution exon 1 VAR_060313 O75396:p.Cys130Arg SP substitution exon 1 VAR_060314 O75396:p.His190Arg SP substitution exon 1 VAR_060315 Q13444:p.Lys191Thr SP substitution exon 1 VAR_060316 Q13444:p.Pro294His SP substitution exon 1 VAR_060317 Q8TE56:p.Asn1094Ser SP substitution exon 1 VAR_060320 A5YM72:p.Met498Leu SP substitution exon 1 VAR_060321 Q9BRP7:p.Ile87Asn SP substitution exon 1 VAR_060322 Q9BRP7:p.Thr475Pro SP substitution exon 1 VAR_060323 O75747:p.Pro911Leu SP substitution exon 1 VAR_060324 O75747:p.Val1290Gly SP substitution exon 1 VAR_060325 O75747:p.Asn1442Thr SP substitution exon 1 VAR_060326 Q8N3Y1:p.Arg192Gln SP substitution exon 1 VAR_060327 Q9NVX2:p.Pro6Ala SP substitution exon 1 VAR_060328 Q9NVX2:p.Arg169Lys SP substitution exon 1 VAR_060330 Q92623:p.Pro103Ala SP substitution exon 1 VAR_060335 P80370:p.Arg101Gly SP substitution exon 1 VAR_060336 P80370:p.Asp108Gly SP substitution exon 1 VAR_060337 Q14767:p.Pro591Ser SP substitution exon 1 VAR_060338 Q9NY15:p.Leu672Met SP substitution exon 1 VAR_060339 Q9NY15:p.Met912Val SP substitution exon 1 VAR_060340 Q9NY15:p.Ala1833Pro SP substitution exon 1 VAR_060341 Q16825:p.Leu385Phe SP substitution exon 1 VAR_060342 Q16825:p.Val936Ala SP substitution exon 1 VAR_060344 Q15643:p.Glu1107Asp SP substitution exon 1 VAR_060345 Q15643:p.Asp1413Ala SP substitution exon 1 VAR_060346 Q15643:p.Gly1827Ser SP substitution exon 1 VAR_060347 Q6QHC5:p.Ser8Asn SP substitution exon 1 VAR_060348 Q9BWH6:p.Glu506Lys SP substitution exon 1 VAR_060349 Q9BWH6:p.Gln825Glu SP substitution exon 1 VAR_060350 Q9BWH6:p.Arg1108Gly SP substitution exon 1 VAR_060351 Q00796:p.Asn269Thr SP substitution exon 1 VAR_060352 Q9HCN6:p.Pro219Ser SP substitution exon 1 VAR_060353 Q9HCN6:p.Glu237Lys SP substitution exon 1 VAR_060354 Q9HCN6:p.Ala249Thr SP substitution exon 1 VAR_060355 Q9HCN6:p.Arg335Gly SP substitution exon 1 VAR_060356 Q8IVU1:p.Val751Leu SP substitution exon 1 VAR_060357 Q9NR99:p.Ile824Val SP substitution exon 1 VAR_060358 Q9NR99:p.Ala1128Val SP substitution exon 1 VAR_060359 Q9NR99:p.Gly1394Asp SP substitution exon 1 VAR_060360 Q9NR99:p.Gly2000Ser SP substitution exon 1 VAR_060361 Q9UKJ1:p.Arg78Gly SP substitution exon 1 VAR_060362 Q00888:p.Gln11His SP substitution exon 1 VAR_060363 Q00888:p.Ser177Arg SP substitution exon 1 VAR_060364 Q00888:p.Lys267Glu SP substitution exon 1 VAR_060365 Q9UQ72:p.Asn264Asp SP substitution exon 1 VAR_060366 Q8N743:p.Val324Ala SP substitution exon 1 VAR_060368 P09668:p.Cys26Ser SP substitution exon 1 VAR_060369 P08949:p.Pro73Thr SP substitution exon 1 VAR_060370 Q15155:p.Val583Ala SP substitution exon 1 VAR_060372 Q7L190:p.Ile55Val SP substitution exon 1 VAR_060373 Q7L190:p.Ser226Phe SP substitution exon 1 VAR_060374 Q7L9B9:p.Ser343Asn SP substitution exon 1 VAR_060375 Q8TE68:p.Ala4Thr SP substitution exon 1 VAR_060376 Q8TE68:p.Arg288Gly SP substitution exon 1 VAR_060383 Q86T20:p.Gly150Ala SP substitution exon 1 VAR_060384 Q6PI78:p.Ile97Val SP substitution exon 1 VAR_060385 Q8N6F8:p.Gln107Arg SP substitution exon 1 VAR_060386 Q8N6F8:p.Ser171Trp SP substitution exon 1 VAR_060387 Q8NFT2:p.Phe17Cys SP substitution exon 1 VAR_060388 Q8NFT2:p.Asp40Tyr SP substitution exon 1 VAR_060391 Q8TDX6:p.Ser193Asn SP substitution exon 1 VAR_060392 Q99954:p.Cys42Arg SP substitution exon 1 VAR_060393 Q99954:p.Pro132Leu SP substitution exon 1 VAR_060394 Q9BXT5:p.Cys104Arg SP substitution exon 1 VAR_060395 Q9BXT5:p.Pro383Leu SP substitution exon 1 VAR_060396 Q9BXT5:p.Ile1035Val SP substitution exon 1 VAR_060397 Q9BXT5:p.Asn1311Ser SP substitution exon 1 VAR_060398 Q9BXT5:p.Leu1337Val SP substitution exon 1 VAR_060399 Q9BXT5:p.Lys1439Arg SP substitution exon 1 VAR_060400 Q8NBT3:p.Leu256Met SP substitution exon 1 VAR_060402 Q8IXZ2:p.Gln102Arg SP substitution exon 1 VAR_060403 Q8IXZ2:p.Glu165Lys SP substitution exon 1 VAR_060404 Q8IXZ2:p.Pro231Ala SP substitution exon 1 VAR_060405 Q8IXZ2:p.Arg578His SP substitution exon 1 VAR_060406 Q8IXZ2:p.Arg636Trp SP substitution exon 1 VAR_060407 Q8IXZ2:p.Pro727Arg SP substitution exon 1 VAR_060408 Q9H063:p.Gly236Arg SP substitution exon 1 VAR_060409 Q6ZV29:p.Gly387Ser SP substitution exon 1 VAR_060410 Q969E3:p.Glu77Lys SP substitution exon 1 VAR_060411 Q969E3:p.Arg91Gly SP substitution exon 1 VAR_060412 Q9HBB8:p.Gln165Pro SP substitution exon 1 VAR_060413 Q9HBB8:p.Pro521Ser SP substitution exon 1 VAR_060414 Q9UJU3:p.Pro54Ser SP substitution exon 1 VAR_060415 Q9UJU3:p.Glu446Gln SP substitution exon 1 VAR_060416 Q9UJU3:p.Tyr485His SP substitution exon 1 VAR_060417 Q05481:p.Thr336Ala SP substitution exon 1 VAR_060418 Q05481:p.Ala386Thr SP substitution exon 1 VAR_060419 Q05481:p.Glu521Lys SP substitution exon 1 VAR_060420 Q05481:p.Arg1011Ile SP substitution exon 1 VAR_060421 Q05481:p.Arg1033Gln SP substitution exon 1 VAR_060422 Q8IYN0:p.Thr389Ile SP substitution exon 1 VAR_060424 Q9UK11:p.Leu60Ile SP substitution exon 1 VAR_060425 Q9UK11:p.Leu138Ile SP substitution exon 1 VAR_060428 Q86UD4:p.Ser99Asn SP substitution exon 1 VAR_060429 Q8N823:p.Asn234Ile SP substitution exon 1 VAR_060430 Q8TD23:p.Leu124Val SP substitution exon 1 VAR_060431 Q8TD23:p.Ala410Thr SP substitution exon 1 VAR_060432 Q9NV72:p.Leu119Val SP substitution exon 1 VAR_060433 Q9NV72:p.Arg429His SP substitution exon 1 VAR_060434 Q6PG37:p.Gln301Arg SP substitution exon 1 VAR_060435 Q8NA19:p.Gly489Ser SP substitution exon 1 VAR_060436 Q8NA19:p.Gly618Asp SP substitution exon 1 VAR_060437 Q6NSJ5:p.Pro160Leu SP substitution exon 1 VAR_060438 Q8N5I9:p.Lys8Gln SP substitution exon 1 VAR_060439 Q96ND0:p.Glu167Lys SP substitution exon 1 VAR_060440 Q9Y5B0:p.Ser282Phe SP substitution exon 1 VAR_060441 Q9Y5B0:p.Pro519His SP substitution exon 1 VAR_060442 Q9BY15:p.Arg385Gln SP substitution exon 1 VAR_060443 Q3MIV0:p.Leu26His SP substitution exon 1 VAR_060444 Q8N1G1:p.Ser759Pro SP substitution exon 1 VAR_060445 Q9Y5N5:p.Asn34Asp SP substitution exon 1 VAR_060446 Q9Y5N5:p.Lys146Arg SP substitution exon 1 VAR_060447 Q9Y5N5:p.Lys166Arg SP substitution exon 1 VAR_060448 Q69YQ0:p.Asp301Gly SP substitution exon 1 VAR_060449 Q69YQ0:p.Ser712Phe SP substitution exon 1 VAR_060450 Q69YQ0:p.Thr717Ala SP substitution exon 1 VAR_060451 Q69YQ0:p.Val943Ala SP substitution exon 1 VAR_060452 Q69YQ0:p.Val951Met SP substitution exon 1 VAR_060453 Q96PX9:p.Thr669Pro SP substitution exon 1 VAR_060454 Q96PX9:p.Arg1076Gln SP substitution exon 1 VAR_060455 Q96PX9:p.Arg1146Gly SP substitution exon 1 VAR_060456 Q8TED1:p.Lys182Arg SP substitution exon 1 VAR_060460 Q8N392:p.Thr23Ala SP substitution exon 1 VAR_060461 Q8N392:p.Asn91Ser SP substitution exon 1 VAR_060462 Q8N392:p.Gln165His SP substitution exon 1 VAR_060463 Q86Y56:p.Arg560Cys SP substitution exon 1 VAR_060465 Q2M3V2:p.Phe545Leu SP substitution exon 1 VAR_060466 Q8WXK1:p.Pro57Leu SP substitution exon 1 VAR_060467 Q8WXK1:p.Gly357Ala SP substitution exon 1 VAR_060469 Q13822:p.Ser493Pro SP substitution exon 1 VAR_060470 Q01629:p.Ile121Val SP substitution exon 1 VAR_060471 P00973:p.Asn31Asp SP substitution exon 1 VAR_060472 P00973:p.Gly127Arg SP substitution exon 1 VAR_060476 Q9NYZ1:p.Gly55Glu SP substitution exon 1 VAR_060477 Q96R47:p.Ser133Ile SP substitution exon 1 VAR_060478 Q96R47:p.Ser164Arg SP substitution exon 1 VAR_060479 Q15615:p.Leu174Ile SP substitution exon 1 VAR_060480 Q92503:p.Ala97Gly SP substitution exon 1 VAR_060481 Q92503:p.Tyr98His SP substitution exon 1 VAR_060482 Q92503:p.Thr188Pro SP substitution exon 1 VAR_060483 Q9NPR9:p.Gln36Arg SP substitution exon 1 VAR_060484 Q8WXG8:p.Glu23Ala SP substitution exon 1 VAR_060485 Q2WGJ6:p.Ile334Val SP substitution exon 1 VAR_060486 Q2WGJ6:p.Arg346Lys SP substitution exon 1 VAR_060487 Q6P5W5:p.Ala22Glu SP substitution exon 1 VAR_060490 O43759:p.Asp222Gly SP substitution exon 1 VAR_060491 Q14028:p.Gly993Val SP substitution exon 1 VAR_060492 P11487:p.Leu6Pro SP substitution exon 1 VAR_060534 O75678:p.Ala119Thr SP substitution exon 1 VAR_060535 O75678:p.Cys141Tyr SP substitution exon 1 VAR_060536 O75678:p.Gln215His SP substitution exon 1 VAR_060541 Q8TER5:p.Thr1418Pro SP substitution exon 1 VAR_060543 A1A5D9:p.Gln55Glu SP substitution exon 1 VAR_060544 O95782:p.Pro270Leu SP substitution exon 1 VAR_060545 P00488:p.Thr650Ile SP substitution exon 1 VAR_060546 Q96DZ7:p.Gln8Pro SP substitution exon 1 VAR_060547 P21549:p.Thr9Asn SP substitution exon 1 VAR_060548 P21549:p.Gly82Arg SP substitution exon 1 VAR_060549 P21549:p.Trp108Arg SP substitution exon 1 VAR_060550 P21549:p.Ala112Asp SP substitution exon 1 VAR_060552 P21549:p.Leu153Val SP substitution exon 1 VAR_060553 P21549:p.Ser158Leu SP substitution exon 1 VAR_060554 P21549:p.Gly161Arg SP substitution exon 1 VAR_060555 P21549:p.Cys173Tyr SP substitution exon 1 VAR_060556 P21549:p.Gly190Arg SP substitution exon 1 VAR_060557 P21549:p.Met195Arg SP substitution exon 1 VAR_060558 P21549:p.Asp201Glu SP substitution exon 1 VAR_060573 Q9UBY8:p.Ala30Pro SP substitution exon 1 VAR_060575 Q9UBY8:p.Gln194Arg SP substitution exon 1 VAR_060576 P13498:p.Gly25Val SP substitution exon 1 VAR_060577 P13498:p.Leu52Pro SP substitution exon 1 VAR_060578 P13498:p.Glu53Val SP substitution exon 1 VAR_060579 P13498:p.Arg90Trp SP substitution exon 1 VAR_060580 P13498:p.Ala124Val SP substitution exon 1 VAR_060581 P13498:p.Ala125Thr SP substitution exon 1 VAR_060584 P49815:p.Leu619Phe SP substitution exon 1 VAR_060585 P49815:p.Ser802Arg SP substitution exon 1 VAR_060586 O60287:p.Val1791Leu SP substitution exon 1 VAR_060587 O60841:p.Lys522Thr SP substitution exon 1 VAR_060588 Q92947:p.Met263Val SP substitution exon 1 VAR_060589 Q86WI3:p.Asn907Asp SP substitution exon 1 VAR_060591 P04275:p.Val471Ile SP substitution exon 1 VAR_060592 O15117:p.Val672Phe SP substitution exon 1 VAR_060593 P48764:p.Cys799Arg SP substitution exon 1 VAR_060594 P47883:p.Ile42Val SP substitution exon 1 VAR_060595 P47883:p.Ser86Arg SP substitution exon 1 VAR_060596 P47883:p.Glu103Gln SP substitution exon 1 VAR_060597 P47883:p.Ile120Val SP substitution exon 1 VAR_060598 P47883:p.Pro168Thr SP substitution exon 1 VAR_060599 P47883:p.Asn175Ser SP substitution exon 1 VAR_060600 P47883:p.Tyr181His SP substitution exon 1 VAR_060601 P47883:p.Ser193Ala SP substitution exon 1 VAR_060602 P47883:p.Arg237Lys SP substitution exon 1 VAR_060603 P47883:p.Val300Ile SP substitution exon 1 VAR_060605 Q8N7M2:p.Thr314Ile SP substitution exon 1 VAR_060608 Q8N865:p.Pro143Gln SP substitution exon 1 VAR_060609 Q8N865:p.Asn518Asp SP substitution exon 1 VAR_060610 Q8N743:p.Arg52His SP substitution exon 1 VAR_060611 Q8N743:p.Asn56Lys SP substitution exon 1 VAR_060612 Q8N743:p.Arg77Trp SP substitution exon 1 VAR_060613 Q8N743:p.Arg149Ser SP substitution exon 1 VAR_060614 Q8N743:p.Arg152His SP substitution exon 1 VAR_060615 Q8N743:p.Gly231Asp SP substitution exon 1 VAR_060616 Q8N743:p.Asn290Thr SP substitution exon 1 VAR_060617 Q8N743:p.His321Asn SP substitution exon 1 VAR_060618 Q8N743:p.His321Tyr SP substitution exon 1 VAR_060619 Q8N743:p.Val324Asp SP substitution exon 1 VAR_060620 Q8N743:p.Glu373Asp SP substitution exon 1 VAR_060621 Q5VVY1:p.Ala72Gly SP substitution exon 1 VAR_060622 Q5VVY1:p.Ser247Arg SP substitution exon 1 VAR_060625 Q08623:p.Pro165Ala SP substitution exon 1 VAR_060661 Q9BY64:p.Ile447Arg SP substitution exon 1 VAR_060662 Q9BY64:p.His458Asp SP substitution exon 1 VAR_060665 Q5VUY0:p.Cys195Phe SP substitution exon 1 VAR_060666 Q5VUY0:p.Ser47Pro SP substitution exon 1 VAR_060667 Q5VUY0:p.Leu71Met SP substitution exon 1 VAR_060668 Q5VUY0:p.Arg129Trp SP substitution exon 1 VAR_060670 Q5VUY0:p.Met250Ile SP substitution exon 1 VAR_060671 Q5VUY0:p.Pro280Leu SP substitution exon 1 VAR_060672 Q8IXQ5:p.Ser150Asn SP substitution exon 1 VAR_060673 Q8IXQ5:p.Ala153Thr SP substitution exon 1 VAR_060674 Q8IXQ5:p.Ala153Val SP substitution exon 1 VAR_060675 Q8IXQ5:p.Asp255Asn SP substitution exon 1 VAR_060678 Q13106:p.His57Arg SP substitution exon 1 VAR_060679 Q15722:p.Leu346Phe SP substitution exon 1 VAR_060680 P25116:p.Ala268Pro SP substitution exon 1 VAR_060681 P25116:p.Ala335Val SP substitution exon 1 VAR_060682 Q9UI09:p.Thr104Ala SP substitution exon 1 VAR_060683 P06132:p.Lys15Glu SP substitution exon 1 VAR_060684 P06132:p.Pro106Leu SP substitution exon 1 VAR_060685 P06132:p.Arg113Thr SP substitution exon 1 VAR_060686 P06132:p.Gly303Val SP substitution exon 1 VAR_060687 Q8N2N9:p.Glu483Gly SP substitution exon 1 VAR_060688 Q8N2N9:p.Ser534Ala SP substitution exon 1 VAR_060689 Q96SD1:p.Ala140Val SP substitution exon 1 VAR_060690 Q96SD1:p.Gly153Arg SP substitution exon 1 VAR_060691 Q96SD1:p.Leu329Met SP substitution exon 1 VAR_060692 P56817:p.Val265Ala SP substitution exon 1 VAR_060693 P53355:p.Pro591Leu SP substitution exon 1 VAR_060694 P53355:p.Ile622Met SP substitution exon 1 VAR_060695 Q9Y6Q9:p.Arg220Ile SP substitution exon 1 VAR_060696 Q9Y6Q9:p.Ile556Val SP substitution exon 1 VAR_060699 Q6UWW8:p.Val129Ile SP substitution exon 1 VAR_060700 Q6UWW8:p.Ala151Thr SP substitution exon 1 VAR_060701 Q6UWW8:p.Tyr160His SP substitution exon 1 VAR_060702 Q6UWW8:p.Glu191Lys SP substitution exon 1 VAR_060703 Q6UWW8:p.Ile213Asn SP substitution exon 1 VAR_060704 Q6UWW8:p.Arg367Trp SP substitution exon 1 VAR_060705 Q6UWW8:p.Ala523Val SP substitution exon 1 VAR_060706 Q6UWW8:p.Ile555Val SP substitution exon 1 VAR_060707 Q9C035:p.Gly31Ser SP substitution exon 1 VAR_060708 Q9C035:p.Cys58Tyr SP substitution exon 1 VAR_060709 Q9C035:p.Gly110Glu SP substitution exon 1 VAR_060711 O43427:p.Leu359Arg SP substitution exon 1 VAR_060712 P45877:p.His160Leu SP substitution exon 1 VAR_060713 P06133:p.Lys40Asn SP substitution exon 1 VAR_060714 P06133:p.Pro78Thr SP substitution exon 1 VAR_060715 P06133:p.Ser80Pro SP substitution exon 1 VAR_060716 P06133:p.Val277Ile SP substitution exon 1 VAR_060718 P17066:p.Pro65Thr SP substitution exon 1 VAR_060719 P17066:p.Arg95Gln SP substitution exon 1 VAR_060720 P17066:p.Ala159Val SP substitution exon 1 VAR_060721 P17066:p.Thr297Lys SP substitution exon 1 VAR_060722 Q8N823:p.Pro252Ile SP substitution exon 1 VAR_060723 P13645:p.His487Tyr SP substitution exon 1 VAR_060724 P13646:p.Ala187Val SP substitution exon 1 VAR_060725 Q8N957:p.Val445Ile SP substitution exon 1 VAR_060726 Q8WVB3:p.His232Tyr SP substitution exon 1 VAR_060727 P04731:p.Thr27Asn SP substitution exon 1 VAR_060728 Q9H1K1:p.Ala12Val SP substitution exon 1 VAR_060729 P13727:p.His206Tyr SP substitution exon 1 VAR_060730 O75969:p.Thr464Ser SP substitution exon 1 VAR_060731 P08729:p.His186Arg SP substitution exon 1 VAR_060732 P07197:p.Pro439Thr SP substitution exon 1 VAR_060733 P20742:p.Asn857Ser SP substitution exon 1 VAR_060734 P20742:p.Thr1205Pro SP substitution exon 1 VAR_060735 P24588:p.Thr203Ile SP substitution exon 1 VAR_060736 P24723:p.Asp497Tyr SP substitution exon 1 VAR_060737 P22888:p.Asn312Ser SP substitution exon 1 VAR_060738 P24821:p.Ile1677Leu SP substitution exon 1 VAR_060784 P28328:p.Cys184Arg SP substitution exon 1 VAR_060785 P25391:p.Asn674Thr SP substitution exon 1 VAR_060786 P25391:p.Met1340Val SP substitution exon 1 VAR_060787 P25391:p.Ala1876Thr SP substitution exon 1 VAR_060788 P25391:p.Lys2002Glu SP substitution exon 1 VAR_060789 P25940:p.Arg322Gly SP substitution exon 1 VAR_060790 P30203:p.Ala257Val SP substitution exon 1 VAR_060791 Q14D33:p.Gly101Glu SP substitution exon 1 VAR_060793 P37088:p.Phe61Leu SP substitution exon 1 VAR_060794 P37088:p.Val114Ile SP substitution exon 1 VAR_060795 P37088:p.Arg181Trp SP substitution exon 1 VAR_060796 P37088:p.Ala334Thr SP substitution exon 1 VAR_060798 P29033:p.Asp46Glu SP substitution exon 1 VAR_060799 P29033:p.His73Arg SP substitution exon 1 VAR_060800 P29033:p.Val84Met SP substitution exon 1 VAR_060802 P43080:p.Glu89Lys SP substitution exon 1 VAR_060803 P43080:p.Asp100Glu SP substitution exon 1 VAR_060804 P43080:p.Thr114Ile SP substitution exon 1 VAR_060806 P43080:p.Leu151Phe SP substitution exon 1 VAR_060807 P43080:p.Gly159Val SP substitution exon 1 VAR_060809 Q16518:p.Tyr79His SP substitution exon 1 VAR_060810 Q16518:p.Arg85His SP substitution exon 1 VAR_060811 Q16518:p.Glu95Gln SP substitution exon 1 VAR_060812 Q16518:p.Glu102Lys SP substitution exon 1 VAR_060813 Q16518:p.Glu148Asp SP substitution exon 1 VAR_060814 Q16518:p.Asp167Tyr SP substitution exon 1 VAR_060815 Q16518:p.His182Asn SP substitution exon 1 VAR_060816 Q16518:p.Tyr239Asp SP substitution exon 1 VAR_060817 Q16518:p.Lys294Thr SP substitution exon 1 VAR_060818 Q16518:p.Cys330Tyr SP substitution exon 1 VAR_060819 Q16518:p.Ala393Glu SP substitution exon 1 VAR_060820 Q16518:p.Tyr435Cys SP substitution exon 1 VAR_060821 Q16518:p.Gly436Val SP substitution exon 1 VAR_060822 Q16518:p.Pro470Leu SP substitution exon 1 VAR_060823 Q16518:p.Val473Asp SP substitution exon 1 VAR_060824 Q16518:p.Gly528Val SP substitution exon 1 VAR_060825 O60313:p.Ala8Ser SP substitution exon 1 VAR_060826 O60313:p.Tyr80Cys SP substitution exon 1 VAR_060827 O60313:p.Thr95Met SP substitution exon 1 VAR_060828 O60313:p.Tyr102Cys SP substitution exon 1 VAR_060829 O60313:p.Glu270Lys SP substitution exon 1 VAR_060830 O60313:p.Leu272Pro SP substitution exon 1 VAR_060831 O60313:p.Asp273Ala SP substitution exon 1 VAR_060832 O60313:p.Arg290Trp SP substitution exon 1 VAR_060834 O60313:p.Gln310Arg SP substitution exon 1 VAR_060836 O60313:p.Ala357Thr SP substitution exon 1 VAR_060837 O60313:p.Ile382Met SP substitution exon 1 VAR_060838 O60313:p.Leu384Phe SP substitution exon 1 VAR_060839 O60313:p.Leu396Pro SP substitution exon 1 VAR_060841 O60313:p.Asn430Asp SP substitution exon 1 VAR_060842 O60313:p.Asp438Val SP substitution exon 1 VAR_060843 O60313:p.Thr449Arg SP substitution exon 1 VAR_060845 O60313:p.Lys468Glu SP substitution exon 1 VAR_060846 O60313:p.Asp470Gly SP substitution exon 1 VAR_060847 O60313:p.Glu487Lys SP substitution exon 1 VAR_060848 O60313:p.Lys505Asn SP substitution exon 1 VAR_060849 O60313:p.Asp550Asn SP substitution exon 1 VAR_060851 O60313:p.Cys551Tyr SP substitution exon 1 VAR_060852 O60313:p.Leu574Pro SP substitution exon 1 VAR_060853 O60313:p.Tyr582Cys SP substitution exon 1 VAR_060854 O60313:p.Arg590Gln SP substitution exon 1 VAR_060855 O60313:p.Arg590Trp SP substitution exon 1 VAR_060856 O60313:p.Leu593Pro SP substitution exon 1 VAR_060857 O60313:p.Ser646Leu SP substitution exon 1 VAR_060859 O60313:p.Asn728Lys SP substitution exon 1 VAR_060860 O60313:p.Gly768Asp SP substitution exon 1 VAR_060861 O60313:p.Arg781Trp SP substitution exon 1 VAR_060862 O60313:p.Gln785Arg SP substitution exon 1 VAR_060863 O60313:p.Ser823Tyr SP substitution exon 1 VAR_060864 O60313:p.Tyr841Cys SP substitution exon 1 VAR_060865 O60313:p.Arg882Leu SP substitution exon 1 VAR_060866 O60313:p.Leu887Pro SP substitution exon 1 VAR_060867 O60313:p.Glu907Gly SP substitution exon 1 VAR_060868 O60313:p.Arg932Cys SP substitution exon 1 VAR_060869 O60313:p.Leu949Pro SP substitution exon 1 VAR_060934 Q9BZ23:p.Glu134Gly SP substitution exon 1 VAR_060935 Q9BZ23:p.Arg249Pro SP substitution exon 1 VAR_060936 Q9BZ23:p.Arg278Leu SP substitution exon 1 VAR_060937 Q9BZ23:p.Glu322Asp SP substitution exon 1 VAR_060938 Q9BZ23:p.Glu322Gly SP substitution exon 1 VAR_060939 Q9BZ23:p.Arg357Gln SP substitution exon 1 VAR_060940 Q9BZ23:p.Ala398Thr SP substitution exon 1 VAR_060942 Q9BZ23:p.Cys428Tyr SP substitution exon 1 VAR_060943 Q9BZ23:p.Asp447Asn SP substitution exon 1 VAR_060944 Q9BZ23:p.Ile501Thr SP substitution exon 1 VAR_060945 Q9BZ23:p.Ala509Val SP substitution exon 1 VAR_060946 Q9BZ23:p.Asn511Asp SP substitution exon 1 VAR_060947 Q9BZ23:p.Arg532Trp SP substitution exon 1 VAR_060948 Q9BZ23:p.Leu563Pro SP substitution exon 1 VAR_060949 Q9BZ23:p.Pro570Leu SP substitution exon 1 VAR_060950 Q99958:p.Ser191Phe SP substitution exon 1 VAR_060951 Q30154:p.Lys14Met SP substitution exon 1 VAR_060952 Q30154:p.Lys14Gln SP substitution exon 1 VAR_060953 Q30154:p.Lys14Val SP substitution exon 1 VAR_060954 Q30154:p.Arg35Cys SP substitution exon 1 VAR_060955 Q30154:p.His57Gln SP substitution exon 1 VAR_060956 Q30154:p.Asp59Gly SP substitution exon 1 VAR_060957 Q30154:p.Asp59His SP substitution exon 1 VAR_060958 Q30154:p.Asp66Asn SP substitution exon 1 VAR_060959 Q30154:p.Asp66Tyr SP substitution exon 1 VAR_060960 Q30154:p.Leu67Val SP substitution exon 1 VAR_060961 Q30154:p.Ala87Glu SP substitution exon 1 VAR_060962 Q30154:p.Tyr89Ser SP substitution exon 1 VAR_060963 Q30154:p.Phe96Leu SP substitution exon 1 VAR_060964 Q30154:p.Phe96Ile SP substitution exon 1 VAR_060965 Q30154:p.Asp99Glu SP substitution exon 1 VAR_060966 Q30154:p.Asp99Gly SP substitution exon 1 VAR_060967 Q30154:p.Asp99His SP substitution exon 1 VAR_060968 Q30154:p.Asp99Asn SP substitution exon 1 VAR_060969 Q30154:p.Asp99Gln SP substitution exon 1 VAR_060970 Q30154:p.Asp99Arg SP substitution exon 1 VAR_060971 Q30154:p.Arg100Ala SP substitution exon 1 VAR_060972 Q30154:p.Arg100Gly SP substitution exon 1 VAR_060973 Q30154:p.Arg100Thr SP substitution exon 1 VAR_060974 Q30154:p.Ala103Glu SP substitution exon 1 VAR_060975 Q30154:p.Ala103Leu SP substitution exon 1 VAR_060976 Q30154:p.Tyr107Val SP substitution exon 1 VAR_060977 Q30154:p.Val114Ala SP substitution exon 1 VAR_060978 Q30154:p.Gly115Val SP substitution exon 1 VAR_060979 Q30154:p.Ser164Gly SP substitution exon 1 VAR_060980 Q30154:p.Thr186Ile SP substitution exon 1 VAR_060981 Q30154:p.Val232Ile SP substitution exon 1 VAR_060982 P20742:p.Thr1003Met SP substitution exon 1 VAR_060983 Q86XH1:p.Lys8Met SP substitution exon 1 VAR_060984 Q86XH1:p.Gln362Arg SP substitution exon 1 VAR_060985 Q8IZY2:p.Ala676Thr SP substitution exon 1 VAR_060986 Q9NP58:p.Arg343Gln SP substitution exon 1 VAR_060988 O95255:p.Leu1097Ile SP substitution exon 1 VAR_060989 O43246:p.Phe608Tyr SP substitution exon 1 VAR_060990 Q7Z695:p.Ser66Gly SP substitution exon 1 VAR_060991 O75608:p.Pro153Ser SP substitution exon 1 VAR_060993 Q9P2A4:p.Phe209Ser SP substitution exon 1 VAR_060994 Q56NI9:p.Gln359Pro SP substitution exon 1 VAR_060996 Q9UGM1:p.Ala315Val SP substitution exon 1 VAR_060997 Q86V21:p.Ala470Val SP substitution exon 1 VAR_060998 Q9Y615:p.Leu343Val SP substitution exon 1 VAR_060999 Q86WK9:p.Val227Met SP substitution exon 1 VAR_061000 O75969:p.Glu525Lys SP substitution exon 1 VAR_061001 P42330:p.Glu77Gly SP substitution exon 1 VAR_061002 Q5I7T1:p.Ser383Asn SP substitution exon 1 VAR_061003 P43652:p.Arg395His SP substitution exon 1 VAR_061005 Q8N5Z0:p.Val243Ile SP substitution exon 1 VAR_061006 Q9BYV1:p.Ser102Ile SP substitution exon 1 VAR_061007 Q9BYV1:p.Ser102Thr SP substitution exon 1 VAR_061008 Q4L235:p.Ile61Val SP substitution exon 1 VAR_061009 Q4L235:p.Pro93Arg SP substitution exon 1 VAR_061010 P0C7M7:p.Arg481His SP substitution exon 1 VAR_061011 Q6NUN0:p.Met217Val SP substitution exon 1 VAR_061012 P16157:p.Arg832Gln SP substitution exon 1 VAR_061013 Q12955:p.Lys2318Arg SP substitution exon 1 VAR_061014 Q12955:p.Gln2996His SP substitution exon 1 VAR_061015 Q8NAG6:p.Pro160Ser SP substitution exon 1 VAR_061016 Q6S5H4:p.Arg524His SP substitution exon 1 VAR_061017 Q8N283:p.Arg592Gln SP substitution exon 1 VAR_061018 Q8N9V6:p.Ala105Gly SP substitution exon 1 VAR_061019 A6NJG2:p.Thr254Ala SP substitution exon 1 VAR_061020 Q5H9F3:p.Phe111Leu SP substitution exon 1 VAR_061021 O15050:p.Pro153Leu SP substitution exon 1 VAR_061022 Q9C0D5:p.Pro30Ser SP substitution exon 1 VAR_061023 Q96P48:p.Gln1047Glu SP substitution exon 1 VAR_061024 Q7Z3Z3:p.Pro186Leu SP substitution exon 1 VAR_061025 Q7Z3Z4:p.Ala370Pro SP substitution exon 1 VAR_061026 P20933:p.Thr322Ile SP substitution exon 1 VAR_061027 Q2TAZ0:p.Arg394Cys SP substitution exon 1 VAR_061028 Q2TAZ0:p.Ala404Val SP substitution exon 1 VAR_061029 Q2TAZ0:p.Pro656Arg SP substitution exon 1 VAR_061030 Q674R7:p.Pro166Leu SP substitution exon 1 VAR_061031 P14415:p.Gln124Leu SP substitution exon 1 VAR_061032 Q9BY07:p.His253Tyr SP substitution exon 1 VAR_061034 Q68DX3:p.Thr239Met SP substitution exon 1 VAR_061035 Q9BQL6:p.Val241Ala SP substitution exon 1 VAR_061036 Q8NB49:p.Val972Met SP substitution exon 1 VAR_061037 O43861:p.Arg108Gln SP substitution exon 1 VAR_061038 O60312:p.Arg504His SP substitution exon 1 VAR_061039 Q4VNC0:p.Ser96Tyr SP substitution exon 1 VAR_061040 A8MT70:p.His346Arg SP substitution exon 1 VAR_061042 Q9ULD4:p.Ser177Gly SP substitution exon 1 VAR_061043 P20853:p.Asp169Glu SP substitution exon 1 VAR_061044 P20853:p.Val479Gly SP substitution exon 1 VAR_061045 Q5TCH4:p.Tyr104Phe SP substitution exon 1 VAR_061046 Q02318:p.Ala169Val SP substitution exon 1 VAR_061047 P33764:p.Arg3Lys SP substitution exon 1 VAR_061048 Q86SG5:p.Arg23His SP substitution exon 1 VAR_061049 P20930:p.Gly332Val SP substitution exon 1 VAR_061050 P20930:p.Gly444Arg SP substitution exon 1 VAR_061051 P20930:p.Ser742Tyr SP substitution exon 1 VAR_061052 P20930:p.Arg1684His SP substitution exon 1 VAR_061053 Q86YZ3:p.Arg122Trp SP substitution exon 1 VAR_061054 Q86YZ3:p.Gln376Arg SP substitution exon 1 VAR_061055 Q86YZ3:p.Gly427Asp SP substitution exon 1 VAR_061056 Q86YZ3:p.Tyr517Cys SP substitution exon 1 VAR_061057 Q9ULB5:p.Asp370Glu SP substitution exon 1 VAR_061058 O75309:p.Arg717His SP substitution exon 1 VAR_061059 Q08554:p.Ser93Phe SP substitution exon 1 VAR_061060 Q9Y5H8:p.Pro61Gln SP substitution exon 1 VAR_061061 Q9UN73:p.Leu585Val SP substitution exon 1 VAR_061062 Q9Y5H5:p.Phe64Leu SP substitution exon 1 VAR_061063 Q9Y5H5:p.Glu501Gln SP substitution exon 1 VAR_061064 Q9Y5E1:p.Arg124Ser SP substitution exon 1 VAR_061065 Q9Y5E1:p.Ser185Gly SP substitution exon 1 VAR_061066 Q9Y5E1:p.Lys414Glu SP substitution exon 1 VAR_061067 Q9Y5E1:p.Leu426Met SP substitution exon 1 VAR_061068 Q9NRJ7:p.Val347Leu SP substitution exon 1 VAR_061069 Q9NRJ7:p.Ala508Thr SP substitution exon 1 VAR_061070 Q9Y5G5:p.Asn187Lys SP substitution exon 1 VAR_061071 Q9Y5G2:p.Val58Ile SP substitution exon 1 VAR_061072 Q9Y5G2:p.Lys687Glu SP substitution exon 1 VAR_061073 Q9Y5G1:p.Ala28Val SP substitution exon 1 VAR_061074 Q96JQ0:p.Leu2172Gln SP substitution exon 1 VAR_061075 Q6V1P9:p.Glu1595Gln SP substitution exon 1 VAR_061076 Q9NYQ8:p.Tyr1181His SP substitution exon 1 VAR_061077 Q9NYQ8:p.Phe2428Ser SP substitution exon 1 VAR_061078 Q5VU57:p.Val443Met SP substitution exon 1 VAR_061079 Q9Y2G2:p.Glu99Ala SP substitution exon 1 VAR_061081 P49662:p.Asp47Asn SP substitution exon 1 VAR_061082 P49662:p.Glu284Asp SP substitution exon 1 VAR_061084 P11277:p.Glu525Lys SP substitution exon 1 VAR_061085 Q9BXY5:p.Leu125Phe SP substitution exon 1 VAR_061086 Q5JST6:p.Cys57Tyr SP substitution exon 1 VAR_061087 Q02818:p.Met338Val SP substitution exon 1 VAR_061088 Q99674:p.Ile116Met SP substitution exon 1 VAR_061089 Q6NXP0:p.Pro36Leu SP substitution exon 1 VAR_061090 Q6NXP0:p.His280Arg SP substitution exon 1 VAR_061091 Q8IY85:p.Ile279Val SP substitution exon 1 VAR_061092 Q5VT06:p.Thr2044Pro SP substitution exon 1 VAR_061093 P23280:p.Arg58Trp SP substitution exon 1 VAR_061094 Q08623:p.Thr88Met SP substitution exon 1 VAR_061095 P51800:p.Pro683Leu SP substitution exon 1 VAR_061096 Q76KP1:p.Ala67Val SP substitution exon 1 VAR_061097 Q76KP1:p.Gly88Val SP substitution exon 1 VAR_061098 Q9BUB4:p.Ile226Val SP substitution exon 1 VAR_061099 O14647:p.Gly1574Ala SP substitution exon 1 VAR_061100 Q00975:p.Ala862Ser SP substitution exon 1 VAR_061101 Q00975:p.Thr996Ala SP substitution exon 1 VAR_061102 Q13936:p.Lys1893Arg SP substitution exon 1 VAR_061103 Q01668:p.Asp2097Asn SP substitution exon 1 VAR_061104 O95180:p.Arg1871Gln SP substitution exon 1 VAR_061105 O60741:p.Pro42Ser SP substitution exon 1 VAR_061106 Q9UL51:p.Arg527Gln SP substitution exon 1 VAR_061107 Q16280:p.Trp139Leu SP substitution exon 1 VAR_061108 Q8NA66:p.Met257Val SP substitution exon 1 VAR_061109 Q96GM8:p.Glu381Lys SP substitution exon 1 VAR_061110 Q9Y2V7:p.Met447Thr SP substitution exon 1 VAR_061111 Q99715:p.Arg2021Gln SP substitution exon 1 VAR_061112 Q99715:p.Gln3048His SP substitution exon 1 VAR_061113 Q05707:p.Thr636Ala SP substitution exon 1 VAR_061114 P39059:p.Pro705Leu SP substitution exon 1 VAR_061116 Q17RW2:p.Arg641His SP substitution exon 1 VAR_061117 Q2UY09:p.Ile437Met SP substitution exon 1 VAR_061118 Q01955:p.Lys834Arg SP substitution exon 1 VAR_061120 A6NMZ7:p.Pro556Ser SP substitution exon 1 VAR_061121 Q9UBI1:p.Arg18Gly SP substitution exon 1 VAR_061122 Q9Y6G5:p.Ile128Ser SP substitution exon 1 VAR_061123 P04003:p.Pro4Gln SP substitution exon 1 VAR_061124 P04003:p.Arg240His SP substitution exon 1 VAR_061125 Q6PEY0:p.Thr177Met SP substitution exon 1 VAR_061126 Q9HA92:p.Glu354Gln SP substitution exon 1 VAR_061127 P13073:p.Ala3Thr SP substitution exon 1 VAR_061128 P48060:p.Asp163Glu SP substitution exon 1 VAR_061129 Q9HD23:p.Pro412Ser SP substitution exon 1 VAR_061130 O60676:p.Ala52Val SP substitution exon 1 VAR_061131 Q13574:p.Gly69Cys SP substitution exon 1 VAR_061132 P12838:p.Ala8Val SP substitution exon 1 VAR_061133 Q96PH6:p.Ile56Val SP substitution exon 1 VAR_061134 Q8N687:p.His62Tyr SP substitution exon 1 VAR_061135 Q86XF0:p.Val166Ile SP substitution exon 1 VAR_061136 Q06278:p.Gln314Arg SP substitution exon 1 VAR_061137 Q13609:p.Arg206Cys SP substitution exon 1 VAR_061138 Q07864:p.Ala31Ser SP substitution exon 1 VAR_061139 Q6ZV29:p.Arg236His SP substitution exon 1 VAR_061140 Q9GZS0:p.Val495Ile SP substitution exon 1 VAR_061141 Q9Y6G9:p.Met147Thr SP substitution exon 1 VAR_061142 Q8WWF6:p.Asp85Glu SP substitution exon 1 VAR_061143 Q8WWF6:p.Asp98Glu SP substitution exon 1 VAR_061144 O75165:p.Pro1515Ser SP substitution exon 1 VAR_061145 Q5F1R6:p.Glu433Lys SP substitution exon 1 VAR_061146 Q9UGP8:p.Val556Ile SP substitution exon 1 VAR_061147 Q04637:p.Thr161Ala SP substitution exon 1 VAR_061149 Q9BSV6:p.Leu112Val SP substitution exon 1 VAR_061150 Q01892:p.Ala104Pro SP substitution exon 1 VAR_061151 P35070:p.Leu44Phe SP substitution exon 1 VAR_061152 Q9NQ79:p.Glu658Lys SP substitution exon 1 VAR_061153 Q5IJ48:p.Val709Ala SP substitution exon 1 VAR_061154 O60494:p.Ala335Thr SP substitution exon 1 VAR_061155 O75095:p.Pro587Leu SP substitution exon 1 VAR_061156 O75095:p.Arg1287His SP substitution exon 1 VAR_061157 O75095:p.Gly1536Ser SP substitution exon 1 VAR_061159 P98095:p.Ile45Val SP substitution exon 1 VAR_061160 P98095:p.His144Arg SP substitution exon 1 VAR_061162 Q9Y493:p.Gly113Ala SP substitution exon 1 VAR_061163 Q9Y493:p.Tyr2334Ser SP substitution exon 1 VAR_061164 Q9Y493:p.Leu2349Phe SP substitution exon 1 VAR_061165 P05413:p.Lys53Arg SP substitution exon 1 VAR_061167 Q8TCJ0:p.Arg38His SP substitution exon 1 VAR_061168 Q4G163:p.Pro139Leu SP substitution exon 1 VAR_061169 Q4G163:p.Pro139Arg SP substitution exon 1 VAR_061170 O75923:p.Arg1096His SP substitution exon 1 VAR_061171 Q9BYJ0:p.Ser28Asn SP substitution exon 1 VAR_061172 O00602:p.Arg93Gln SP substitution exon 1 VAR_061174 Q5SZK8:p.Arg722Lys SP substitution exon 1 VAR_061175 Q5SZK8:p.Ser745Pro SP substitution exon 1 VAR_061176 Q9Y5S8:p.Asp360Asn SP substitution exon 1 VAR_061177 Q9NRD8:p.His678Arg SP substitution exon 1 VAR_061178 Q9BVK6:p.Thr16Ser SP substitution exon 1 VAR_061179 Q86YV0:p.Leu251Val SP substitution exon 1 VAR_061180 Q86YV0:p.Arg594Cys SP substitution exon 1 VAR_061181 Q86YV0:p.Pro825Thr SP substitution exon 1 VAR_061182 P85298:p.Pro418Arg SP substitution exon 1 VAR_061183 Q9P2F8:p.Met1424Leu SP substitution exon 1 VAR_061184 O60890:p.Val39Ile SP substitution exon 1 VAR_061185 O60548:p.Ala368Pro SP substitution exon 1 VAR_061186 P14784:p.Leu10Val SP substitution exon 1 VAR_061187 Q6ZVW7:p.Gly70Arg SP substitution exon 1 VAR_061188 O60391:p.Thr612Ala SP substitution exon 1 VAR_061190 Q12889:p.Pro526Ser SP substitution exon 1 VAR_061191 O43280:p.Ala561Pro SP substitution exon 1 VAR_061192 Q9NTJ4:p.Arg818His SP substitution exon 1 VAR_061194 O43909:p.Ala550Val SP substitution exon 1 VAR_061195 Q8N428:p.Pro497Ser SP substitution exon 1 VAR_061196 Q9NYU1:p.Lys865Arg SP substitution exon 1 VAR_061197 Q9NYU1:p.Tyr1285Phe SP substitution exon 1 VAR_061198 P11217:p.Arg414Gly SP substitution exon 1 VAR_061199 Q8TE23:p.Ile191Val SP substitution exon 1 VAR_061200 Q8TE23:p.Arg317Gly SP substitution exon 1 VAR_061201 Q8TE23:p.Ile486Val SP substitution exon 1 VAR_061202 Q8TE23:p.Ile595Thr SP substitution exon 1 VAR_061203 Q5T6X5:p.Ile599Thr SP substitution exon 1 VAR_061204 Q6PRD1:p.Lys1150Glu SP substitution exon 1 VAR_061205 Q8IVS8:p.Arg27Cys SP substitution exon 1 VAR_061207 Q86Z14:p.Pro65Ala SP substitution exon 1 VAR_061209 P51858:p.Pro201Leu SP substitution exon 1 VAR_061210 Q9P109:p.Val321Leu SP substitution exon 1 VAR_061211 Q6ZNI0:p.Asp352Glu SP substitution exon 1 VAR_061212 Q8N3C0:p.Ser1016Cys SP substitution exon 1 VAR_061213 Q8TDG4:p.Val35Glu SP substitution exon 1 VAR_061214 Q8IYB8:p.Ser2Phe SP substitution exon 1 VAR_061215 Q9BZ95:p.Thr186Met SP substitution exon 1 VAR_061216 Q9BYW2:p.Glu902Gln SP substitution exon 1 VAR_061217 P21918:p.Thr297Pro SP substitution exon 1 VAR_061218 Q9BXC0:p.Asp253His SP substitution exon 1 VAR_061219 Q7Z601:p.His132Asn SP substitution exon 1 VAR_061220 Q96AM1:p.Lys16Arg SP substitution exon 1 VAR_061221 P21452:p.Ala47Thr SP substitution exon 1 VAR_061222 P21452:p.Met245Lys SP substitution exon 1 VAR_061223 P21452:p.Thr363Ala SP substitution exon 1 VAR_061224 P21452:p.His395Arg SP substitution exon 1 VAR_061225 O95665:p.Arg282Lys SP substitution exon 1 VAR_061226 P43119:p.Ser319Trp SP substitution exon 1 VAR_061227 Q96RI8:p.Tyr99Cys SP substitution exon 1 VAR_061228 P47901:p.His224Gln SP substitution exon 1 VAR_061229 Q9UHX3:p.Ala314Val SP substitution exon 1 VAR_061230 Q9UHX3:p.Glu720Asp SP substitution exon 1 VAR_061231 P78417:p.Cys32Tyr SP substitution exon 1 VAR_061232 O75628:p.Arg45Trp SP substitution exon 1 VAR_061233 Q9ULG1:p.Val1108Gly SP substitution exon 1 VAR_061234 Q9UNY4:p.Glu256Gly SP substitution exon 1 VAR_061235 Q9UNY4:p.Lys1134Arg SP substitution exon 1 VAR_061236 Q9UNY4:p.Asp1155His SP substitution exon 1 VAR_061238 O60303:p.Ala1240Val SP substitution exon 1 VAR_061239 A3KMH1:p.Arg898Lys SP substitution exon 1 VAR_061240 Q6ZNE5:p.Val59Ile SP substitution exon 1 VAR_061241 Q2LD37:p.Asp1951Glu SP substitution exon 1 VAR_061242 Q2LD37:p.Ser2521Arg SP substitution exon 1 VAR_061243 Q9ULL0:p.Gly103Val SP substitution exon 1 VAR_061244 Q9ULL0:p.Leu419Phe SP substitution exon 1 VAR_061245 Q9ULL0:p.Pro844Ala SP substitution exon 1 VAR_061246 Q9ULL0:p.Glu852Ala SP substitution exon 1 VAR_061247 Q9ULL0:p.Ile945Phe SP substitution exon 1 VAR_061248 Q9ULL0:p.Arg1032Trp SP substitution exon 1 VAR_061249 Q9ULL0:p.Glu1616Gly SP substitution exon 1 VAR_061250 Q9P1Z9:p.Pro548Arg SP substitution exon 1 VAR_061253 A6NCJ1:p.Pro83Leu SP substitution exon 1 VAR_061254 A6NCJ1:p.Ala137Val SP substitution exon 1 VAR_061255 Q8NFJ8:p.Ser28Ala SP substitution exon 1 VAR_061256 Q9Y543:p.Pro139Ser SP substitution exon 1 VAR_061257 Q0VG99:p.Val138Met SP substitution exon 1 VAR_061258 Q99583:p.Ala109Thr SP substitution exon 1 VAR_061259 A6NI15:p.Glu80Asp SP substitution exon 1 VAR_061260 A6NI15:p.His104Tyr SP substitution exon 1 VAR_061261 Q99814:p.Thr766Pro SP substitution exon 1 VAR_061262 Q99814:p.Pro785Thr SP substitution exon 1 VAR_061263 Q9UL49:p.Asn272Asp SP substitution exon 1 VAR_061264 Q8WY36:p.Pro576Ser SP substitution exon 1 VAR_061265 O95388:p.Ala205Ser SP substitution exon 1 VAR_061266 O60393:p.Arg117Trp SP substitution exon 1 VAR_061267 P78415:p.Leu422Pro SP substitution exon 1 VAR_061269 O95231:p.Gly247Asp SP substitution exon 1 VAR_061270 P32019:p.Gly46Ser SP substitution exon 1 VAR_061271 Q12988:p.Gly67Ser SP substitution exon 1 VAR_061273 Q92985:p.Asp204Asn SP substitution exon 1 VAR_061275 Q06033:p.Pro640Leu SP substitution exon 1 VAR_061276 Q86UX2:p.Val496Met SP substitution exon 1 VAR_061277 Q15652:p.Met591Val SP substitution exon 1 VAR_061278 Q8N9N2:p.Asp34Asn SP substitution exon 1 VAR_061279 Q8N4N8:p.Pro148Ser SP substitution exon 1 VAR_061280 Q9UIL4:p.Ala41Thr SP substitution exon 1 VAR_061281 Q2VIQ3:p.Tyr684Cys SP substitution exon 1 VAR_061282 Q9P2E2:p.Ser369Arg SP substitution exon 1 VAR_061283 Q2TAC6:p.Arg974Gln SP substitution exon 1 VAR_061284 Q5T7B8:p.Arg109Gly SP substitution exon 1 VAR_061285 Q5T7B8:p.Ser837Phe SP substitution exon 1 VAR_061286 Q86VH2:p.Asn1036Asp SP substitution exon 1 VAR_061287 Q2M1P5:p.Asp52Asn SP substitution exon 1 VAR_061288 Q9UM73:p.Leu868Gln SP substitution exon 1 VAR_061289 P10721:p.Met541Val SP substitution exon 1 VAR_061290 P07333:p.Ala245Ser SP substitution exon 1 VAR_061291 P36888:p.Ile417Leu SP substitution exon 1 VAR_061292 P29322:p.Pro321Leu SP substitution exon 1 VAR_061293 P18428:p.Ser157Cys SP substitution exon 1 VAR_061294 P98164:p.Gly259Arg SP substitution exon 1 VAR_061296 O75072:p.Arg56Cys SP substitution exon 1 VAR_061297 P12035:p.Gly44Ala SP substitution exon 1 VAR_061299 Q7RTS7:p.Arg392Gln SP substitution exon 1 VAR_061300 Q7RTS7:p.Glu424Lys SP substitution exon 1 VAR_061301 P48681:p.Val130Ala SP substitution exon 1 VAR_061302 Q13410:p.Pro521Ser SP substitution exon 1 VAR_061303 Q7KYR7:p.Trp178Cys SP substitution exon 1 VAR_061304 Q7KYR7:p.Trp178Leu SP substitution exon 1 VAR_061305 O00481:p.Arg15His SP substitution exon 1 VAR_061306 O00481:p.Arg282Thr SP substitution exon 1 VAR_061309 Q9BY67:p.Asp285Glu SP substitution exon 1 VAR_061310 P06731:p.Ile80Val SP substitution exon 1 VAR_061311 P06731:p.Val83Ala SP substitution exon 1 VAR_061312 Q6UY09:p.Thr87Ile SP substitution exon 1 VAR_061313 Q6WRI0:p.Asp795Asn SP substitution exon 1 VAR_061314 Q8N423:p.Arg322His SP substitution exon 1 VAR_061315 Q8N423:p.Asp403Asn SP substitution exon 1 VAR_061316 O75023:p.Asp247Gly SP substitution exon 1 VAR_061317 Q3SXY7:p.Ser130Asn SP substitution exon 1 VAR_061318 Q7Z304:p.Val646Ala SP substitution exon 1 VAR_061319 P20138:p.Val267Ile SP substitution exon 1 VAR_061321 Q14324:p.Glu29Lys SP substitution exon 1 VAR_061322 Q14324:p.Val341Ile SP substitution exon 1 VAR_061323 Q16557:p.Ile290Asn SP substitution exon 1 VAR_061324 Q00889:p.Met188Arg SP substitution exon 1 VAR_061325 Q9UQ72:p.Val83Ile SP substitution exon 1 VAR_061326 Q9UQ72:p.Glu310Lys SP substitution exon 1 VAR_061328 Q96BF3:p.Trp168Leu SP substitution exon 1 VAR_061329 Q9NZC2:p.Thr96Lys SP substitution exon 1 VAR_061330 Q9NZC2:p.Thr96Arg SP substitution exon 1 VAR_061331 P13591:p.Leu7Phe SP substitution exon 1 VAR_061335 Q92585:p.Ser583Asn SP substitution exon 1 VAR_061336 Q5VTY9:p.Cys188Arg SP substitution exon 1 VAR_061337 Q9NQ38:p.Ala335Val SP substitution exon 1 VAR_061338 Q99707:p.Asp314Asn SP substitution exon 1 VAR_061340 Q8TBB5:p.Gly130Val SP substitution exon 1 VAR_061341 Q5VTJ3:p.Gly94Ser SP substitution exon 1 VAR_061342 Q5VTJ3:p.Pro141Arg SP substitution exon 1 VAR_061343 O14520:p.Leu38Val SP substitution exon 1 VAR_061344 O14520:p.Lys63Thr SP substitution exon 1 VAR_061345 Q93088:p.Gly199Ser SP substitution exon 1 VAR_061347 P25391:p.Leu2511Met SP substitution exon 1 VAR_061348 Q16363:p.Ala283Glu SP substitution exon 1 VAR_061349 P07942:p.Pro379Ser SP substitution exon 1 VAR_061350 O75445:p.Val2820Ile SP substitution exon 1 VAR_061351 O75445:p.Gly4692Arg SP substitution exon 1 VAR_061352 O75445:p.Gly4838Glu SP substitution exon 1 VAR_061353 Q9Y5Y2:p.Thr200Ala SP substitution exon 1 VAR_061354 Q13018:p.Ala370Glu SP substitution exon 1 VAR_061355 Q8TDZ2:p.Ala758Thr SP substitution exon 1 VAR_061356 Q8IY33:p.Lys623Arg SP substitution exon 1 VAR_061357 Q86VF7:p.Met1022Val SP substitution exon 1 VAR_061358 Q6P1J6:p.Ala987Val SP substitution exon 1 VAR_061359 Q9NY56:p.Gly130Ala SP substitution exon 1 VAR_061360 Q9NY56:p.Pro133Ser SP substitution exon 1 VAR_061361 Q6PJG2:p.Asp895Asn SP substitution exon 1 VAR_061362 Q96PN7:p.Val766Ile SP substitution exon 1 VAR_061363 Q15361:p.Ala885Val SP substitution exon 1 VAR_061364 P13533:p.Gln1593Leu SP substitution exon 1 VAR_061365 Q9NQX4:p.Arg172Cys SP substitution exon 1 VAR_061366 Q9HD67:p.His148Tyr SP substitution exon 1 VAR_061367 Q8WYB5:p.Ala1217Ser SP substitution exon 1 VAR_061369 Q4G0N8:p.Gly826Ser SP substitution exon 1 VAR_061370 Q4ZJI4:p.Gln33His SP substitution exon 1 VAR_061371 Q9C0A0:p.Leu276Val SP substitution exon 1 VAR_061372 Q9C0A0:p.Gln786Arg SP substitution exon 1 VAR_061373 O95050:p.Val214Met SP substitution exon 1 VAR_061374 Q9UNK9:p.Val383Leu SP substitution exon 1 VAR_061375 P16444:p.Glu351Lys SP substitution exon 1 VAR_061376 P16444:p.Glu351Gln SP substitution exon 1 VAR_061377 P29474:p.Arg665His SP substitution exon 1 VAR_061378 Q9P272:p.His150Arg SP substitution exon 1 VAR_061379 Q9P272:p.Cys207Gly SP substitution exon 1 VAR_061380 Q9P272:p.Gly304Glu SP substitution exon 1 VAR_061382 Q6NT16:p.Arg11Leu SP substitution exon 1 VAR_061383 Q8NBP5:p.Ala376Thr SP substitution exon 1 VAR_061384 O75355:p.Arg264Gln SP substitution exon 1 VAR_061385 Q5MY95:p.Glu428Lys SP substitution exon 1 VAR_061483 Q8TD07:p.Arg194Gly SP substitution exon 1 VAR_061484 Q6ZMI3:p.Asp351Asn SP substitution exon 1 VAR_061485 Q6ZN54:p.Gln90Glu SP substitution exon 1 VAR_061488 Q6W4X9:p.Pro1794Thr SP substitution exon 1 VAR_061489 Q685J3:p.Ala427Thr SP substitution exon 1 VAR_061490 Q685J3:p.Pro571Leu SP substitution exon 1 VAR_061491 Q685J3:p.Pro925Arg SP substitution exon 1 VAR_061492 Q685J3:p.Val1480Ala SP substitution exon 1 VAR_061493 Q685J3:p.Ala2096Thr SP substitution exon 1 VAR_061494 Q685J3:p.Arg2159Gly SP substitution exon 1 VAR_061495 Q685J3:p.Ser3299Asn SP substitution exon 1 VAR_061496 Q9P2K9:p.Gly39Arg SP substitution exon 1 VAR_061497 Q08493:p.Arg344Trp SP substitution exon 1 VAR_061498 A6NKB5:p.Ser1901Asn SP substitution exon 1 VAR_061499 A6NKB5:p.Arg1984Gln SP substitution exon 1 VAR_061500 Q9H6A9:p.Gly564Ser SP substitution exon 1 VAR_061501 Q9H6A9:p.His1822Gln SP substitution exon 1 VAR_061502 Q8N2H9:p.Val287Met SP substitution exon 1 VAR_061503 P02748:p.Ser427Thr SP substitution exon 1 VAR_061504 P14222:p.Arg4His SP substitution exon 1 VAR_061505 O60240:p.Ala271Val SP substitution exon 1 VAR_061506 Q99541:p.Ser251Pro SP substitution exon 1 VAR_061507 Q96Q06:p.Val124Ala SP substitution exon 1 VAR_061508 Q96Q06:p.Thr421Ala SP substitution exon 1 VAR_061509 Q96Q06:p.Lys761Asn SP substitution exon 1 VAR_061510 Q96Q06:p.Met802Thr SP substitution exon 1 VAR_061511 Q96Q06:p.Ala826Glu SP substitution exon 1 VAR_061512 Q96Q06:p.Ala826Gly SP substitution exon 1 VAR_061513 Q96Q06:p.Ala826Val SP substitution exon 1 VAR_061514 Q96Q06:p.Lys860Asn SP substitution exon 1 VAR_061515 Q96LB9:p.Ala35Thr SP substitution exon 1 VAR_061517 Q6IQ23:p.Ser689Arg SP substitution exon 1 VAR_061520 Q7Z736:p.Gln547His SP substitution exon 1 VAR_061521 P57054:p.Thr9Ala SP substitution exon 1 VAR_061522 Q8TDX9:p.Val894Ile SP substitution exon 1 VAR_061523 Q8TDX9:p.Arg2057His SP substitution exon 1 VAR_061524 Q8TDX9:p.Leu2603Phe SP substitution exon 1 VAR_061525 Q7Z442:p.Arg998Cys SP substitution exon 1 VAR_061526 Q7Z442:p.Gln999His SP substitution exon 1 VAR_061527 Q7Z442:p.Asn1330Asp SP substitution exon 1 VAR_061528 Q7Z442:p.Ile1331Val SP substitution exon 1 VAR_061529 Q7Z442:p.Ala1739Val SP substitution exon 1 VAR_061530 Q7Z442:p.Ser2209Arg SP substitution exon 1 VAR_061532 O94806:p.Leu445Ile SP substitution exon 1 VAR_061533 P35658:p.Gly1592Ala SP substitution exon 1 VAR_061534 P22736:p.Leu26Val SP substitution exon 1 VAR_061535 Q8TD08:p.Thr221Lys SP substitution exon 1 VAR_061536 Q8TD08:p.Ser505Pro SP substitution exon 1 VAR_061537 O15031:p.Ile823Val SP substitution exon 1 VAR_061538 Q9ULL4:p.Glu1156Asp SP substitution exon 1 VAR_061539 Q9Y4D7:p.Ser1542Asn SP substitution exon 1 VAR_061540 Q9BXT2:p.Cys252Ser SP substitution exon 1 VAR_061541 O43688:p.Ala180Val SP substitution exon 1 VAR_061542 Q9H0C8:p.Ile66Met SP substitution exon 1 VAR_061545 O00170:p.Gln307Arg SP substitution exon 1 VAR_061547 Q9UKV3:p.Ala447Pro SP substitution exon 1 VAR_061548 Q8IVF2:p.Met1298Ile SP substitution exon 1 VAR_061549 Q8IVF2:p.Gly3654Glu SP substitution exon 1 VAR_061550 Q8IVF2:p.Gly5139Glu SP substitution exon 1 VAR_061551 Q09666:p.Lys2247Thr SP substitution exon 1 VAR_061552 Q09666:p.Asp4304Gly SP substitution exon 1 VAR_061553 Q96NN9:p.Ser508Thr SP substitution exon 1 VAR_061554 Q60I27:p.Gln29Arg SP substitution exon 1 VAR_061557 Q8IW19:p.Ser224Thr SP substitution exon 1 VAR_061559 Q9P281:p.Ala272Thr SP substitution exon 1 VAR_061560 Q9P281:p.Arg1403Gln SP substitution exon 1 VAR_061561 Q9P281:p.Thr1647Ala SP substitution exon 1 VAR_061562 Q9P281:p.Val1998Ile SP substitution exon 1 VAR_061563 P51587:p.His2116Arg SP substitution exon 1 VAR_061564 Q8WZ55:p.Val43Ile SP substitution exon 1 VAR_061565 Q5T1N1:p.Gly582Val SP substitution exon 1 VAR_061566 Q5SY80:p.Thr56Ser SP substitution exon 1 VAR_061567 Q96A04:p.Ser54Leu SP substitution exon 1 VAR_061568 Q8NG31:p.Met177Val SP substitution exon 1 VAR_061569 Q8NG31:p.Leu1190Val SP substitution exon 1 VAR_061571 Q8N5S3:p.His29Asn SP substitution exon 1 VAR_061572 Q9NPL8:p.Val217Ile SP substitution exon 1 VAR_061574 Q96M34:p.Ser447Leu SP substitution exon 1 VAR_061575 Q6ZVT6:p.Val387Met SP substitution exon 1 VAR_061576 Q6ZVT6:p.Ser404Asn SP substitution exon 1 VAR_061577 Q8TBZ0:p.Tyr500Asp SP substitution exon 1 VAR_061579 Q5T0U0:p.Ile269Thr SP substitution exon 1 VAR_061580 Q8IY82:p.Asp51Asn SP substitution exon 1 VAR_061581 Q8IY82:p.Val241Glu SP substitution exon 1 VAR_061582 Q6PK04:p.Arg282Trp SP substitution exon 1 VAR_061583 Q8IYE0:p.Glu263Gln SP substitution exon 1 VAR_061584 Q8IYE0:p.Ile466Thr SP substitution exon 1 VAR_061585 Q6P9F0:p.Thr141Met SP substitution exon 1 VAR_061586 Q96M83:p.Lys148Gln SP substitution exon 1 VAR_061587 Q9H0W5:p.Gly296Arg SP substitution exon 1 VAR_061588 Q9H0W5:p.His383Tyr SP substitution exon 1 VAR_061589 Q96MH7:p.Thr32Ser SP substitution exon 1 VAR_061590 Q8NHQ1:p.Asn537Ser SP substitution exon 1 VAR_061591 Q8IYT3:p.Glu345Lys SP substitution exon 1 VAR_061592 Q8N319:p.Val107Met SP substitution exon 1 VAR_061593 Q96N11:p.Arg245Cys SP substitution exon 1 VAR_061594 Q6PJG6:p.Arg737Trp SP substitution exon 1 VAR_061595 A6NGR9:p.Ala619Thr SP substitution exon 1 VAR_061596 Q6P047:p.Ile222Val SP substitution exon 1 VAR_061597 Q8TAL5:p.Asp252Gly SP substitution exon 1 VAR_061598 A6H8Z2:p.His34Arg SP substitution exon 1 VAR_061599 A6H8Z2:p.Lys41Glu SP substitution exon 1 VAR_061600 Q5T035:p.Arg191His SP substitution exon 1 VAR_061601 Q5VWN6:p.Ser724Tyr SP substitution exon 1 VAR_061602 Q5VWN6:p.Ile807Val SP substitution exon 1 VAR_061603 Q5T742:p.Pro61Leu SP substitution exon 1 VAR_061604 Q711Q0:p.Arg320Leu SP substitution exon 1 VAR_061605 Q711Q0:p.Asp461Ala SP substitution exon 1 VAR_061606 Q711Q0:p.Val522Gly SP substitution exon 1 VAR_061607 Q9BUA3:p.Glu58Gln SP substitution exon 1 VAR_061608 Q9HCM1:p.Pro147Ser SP substitution exon 1 VAR_061609 Q9HCM1:p.Met1479Thr SP substitution exon 1 VAR_061610 Q86WS4:p.Ile13Leu SP substitution exon 1 VAR_061611 Q8N3K9:p.Ser651Arg SP substitution exon 1 VAR_061612 Q96LQ0:p.Phe267Leu SP substitution exon 1 VAR_061613 Q9P1V8:p.Met168Ile SP substitution exon 1 VAR_061614 Q8N910:p.Pro119Ser SP substitution exon 1 VAR_061615 Q8N910:p.Pro151Arg SP substitution exon 1 VAR_061616 Q8N910:p.Ile160Thr SP substitution exon 1 VAR_061617 Q9BUU2:p.Glu375Lys SP substitution exon 1 VAR_061618 Q8IYS4:p.Pro465Leu SP substitution exon 1 VAR_061619 Q8N635:p.Thr18Pro SP substitution exon 1 VAR_061620 Q6PL45:p.Ser31Gly SP substitution exon 1 VAR_061621 Q6PL45:p.His122Tyr SP substitution exon 1 VAR_061622 Q7Z7A1:p.Met1146Val SP substitution exon 1 VAR_061623 Q495Z4:p.Cys114Arg SP substitution exon 1 VAR_061624 Q5BJE1:p.Asp420Asn SP substitution exon 1 VAR_061625 Q9NZV1:p.Val781Ile SP substitution exon 1 VAR_061626 Q5TZA2:p.Arg7Gly SP substitution exon 1 VAR_061627 Q5TZA2:p.Arg372Gln SP substitution exon 1 VAR_061628 Q8N1N5:p.His95Arg SP substitution exon 1 VAR_061629 Q8IVT2:p.Ala99Thr SP substitution exon 1 VAR_061630 Q1ZYL8:p.Tyr137Phe SP substitution exon 1 VAR_061631 Q2NL68:p.Lys365Asn SP substitution exon 1 VAR_061632 Q9H1P6:p.Arg34Gln SP substitution exon 1 VAR_061633 Q5JX69:p.Glu84Lys SP substitution exon 1 VAR_061634 Q9H7T0:p.Phe318Tyr SP substitution exon 1 VAR_061635 Q9NV39:p.Pro28Leu SP substitution exon 1 VAR_061636 Q9NV39:p.Gln137Arg SP substitution exon 1 VAR_061637 Q5THK1:p.Glu1316Lys SP substitution exon 1 VAR_061638 B1ATL7:p.Leu115Val SP substitution exon 1 VAR_061639 Q15038:p.Ser102Ala SP substitution exon 1 VAR_061641 Q969H9:p.Leu92Ser SP substitution exon 1 VAR_061642 Q9NRI5:p.Ala116Val SP substitution exon 1 VAR_061643 Q9NRI5:p.Thr328Asn SP substitution exon 1 VAR_061645 Q8N3D4:p.Val133Leu SP substitution exon 1 VAR_061646 Q8IYF1:p.Ala446Thr SP substitution exon 1 VAR_061648 Q86US8:p.Glu1189Lys SP substitution exon 1 VAR_061649 O15360:p.Met717Ile SP substitution exon 1 VAR_061650 O14772:p.Pro448Leu SP substitution exon 1 VAR_061651 O95684:p.Ala190Gly SP substitution exon 1 VAR_061652 Q7Z5L2:p.Pro546Ser SP substitution exon 1 VAR_061653 Q92990:p.Leu336Ser SP substitution exon 1 VAR_061654 Q4ZG55:p.Phe359Leu SP substitution exon 1 VAR_061655 Q4ZG55:p.Ala632Thr SP substitution exon 1 VAR_061656 O60269:p.Thr100Pro SP substitution exon 1 VAR_061657 O60269:p.Gly202Trp SP substitution exon 1 VAR_061658 O60269:p.Ala233Ser SP substitution exon 1 VAR_061659 O60269:p.Val241Met SP substitution exon 1 VAR_061660 O60269:p.Arg242Gly SP substitution exon 1 VAR_061661 O60269:p.Ser328Cys SP substitution exon 1 VAR_061662 O60269:p.Val375Ala SP substitution exon 1 VAR_061663 Q9NZM4:p.Pro683Ser SP substitution exon 1 VAR_061664 O43593:p.Leu526Pro SP substitution exon 1 VAR_061665 Q8NG08:p.Thr575Ala SP substitution exon 1 VAR_061667 Q96LB3:p.Lys85Arg SP substitution exon 1 VAR_061668 Q15051:p.Cys434Tyr SP substitution exon 1 VAR_061669 O14654:p.Asp1230Tyr SP substitution exon 1 VAR_061670 O15054:p.Pro203Ala SP substitution exon 1 VAR_061672 O60309:p.Gly1590Ala SP substitution exon 1 VAR_061673 Q6ZMV7:p.Ile356Val SP substitution exon 1 VAR_061674 Q96GY3:p.Ala16Val SP substitution exon 1 VAR_061675 Q969R5:p.Val337Ala SP substitution exon 1 VAR_061676 P23490:p.Ser285Phe SP substitution exon 1 VAR_061677 Q8N386:p.Pro234Thr SP substitution exon 1 VAR_061678 Q8IYG6:p.Arg467Gln SP substitution exon 1 VAR_061679 Q8N967:p.Asp161Asn SP substitution exon 1 VAR_061680 P33241:p.Gln108Leu SP substitution exon 1 VAR_061681 A1Z1Q3:p.Thr335Met SP substitution exon 1 VAR_061682 Q9H8J5:p.Leu141Val SP substitution exon 1 VAR_061683 Q14D04:p.Ser501Leu SP substitution exon 1 VAR_061684 Q6ZW33:p.Thr471Pro SP substitution exon 1 VAR_061685 Q8TDR0:p.Thr416Ser SP substitution exon 1 VAR_061686 O14513:p.Arg250Gln SP substitution exon 1 VAR_061687 Q9NV92:p.Pro124Ser SP substitution exon 1 VAR_061688 Q9Y2I6:p.Asp1077Asn SP substitution exon 1 VAR_061689 Q9Y2I6:p.Arg1276Cys SP substitution exon 1 VAR_061690 Q6GV28:p.Asn134Ser SP substitution exon 1 VAR_061691 O15018:p.Glu1178Gly SP substitution exon 1 VAR_061693 P02812:p.Gln233Arg SP substitution exon 1 VAR_061694 Q569H4:p.Pro110Thr SP substitution exon 1 VAR_061695 Q5FWE3:p.Ser213Pro SP substitution exon 1 VAR_061696 Q5FWE3:p.Leu233Phe SP substitution exon 1 VAR_061697 Q5FWE3:p.Arg334Gly SP substitution exon 1 VAR_061698 Q14761:p.Gly128Glu SP substitution exon 1 VAR_061699 Q14699:p.Val421Ile SP substitution exon 1 VAR_061700 Q5VT52:p.Met351Val SP substitution exon 1 VAR_061701 Q6SPF0:p.Glu340Asp SP substitution exon 1 VAR_061702 Q6SZW1:p.Pro23Arg SP substitution exon 1 VAR_061704 Q96T21:p.Gln428Glu SP substitution exon 1 VAR_061706 Q13239:p.Pro15Thr SP substitution exon 1 VAR_061707 Q13501:p.Glu274Asp SP substitution exon 1 VAR_061708 Q9H2D6:p.Thr817Ser SP substitution exon 1 VAR_061709 Q13428:p.Gly1431Ala SP substitution exon 1 VAR_061710 Q5QJE6:p.Gly477Glu SP substitution exon 1 VAR_061711 Q9BXT5:p.Asp2138Asn SP substitution exon 1 VAR_061712 Q8IWB9:p.Thr158Ile SP substitution exon 1 VAR_061713 P58753:p.Val197Ile SP substitution exon 1 VAR_061714 Q86XM0:p.Met212Thr SP substitution exon 1 VAR_061715 Q6UXU6:p.Ala4Thr SP substitution exon 1 VAR_061716 Q1ED39:p.Arg28Gln SP substitution exon 1 VAR_061717 Q1ED39:p.Val276Ala SP substitution exon 1 VAR_061719 A0JNW5:p.Met1111Leu SP substitution exon 1 VAR_061720 Q6UE05:p.Gly67Val SP substitution exon 1 VAR_061721 Q8TF30:p.Asn212Ser SP substitution exon 1 VAR_061722 Q702N8:p.Arg695Cys SP substitution exon 1 VAR_061723 Q702N8:p.Arg776Trp SP substitution exon 1 VAR_061724 Q702N8:p.Ala1061Val SP substitution exon 1 VAR_061725 Q702N8:p.Gln1707His SP substitution exon 1 VAR_061726 Q5T750:p.Leu173Val SP substitution exon 1 VAR_061728 Q9H171:p.Lys53Arg SP substitution exon 1 VAR_061729 Q9H171:p.Ala332Val SP substitution exon 1 VAR_061730 Q9UPR6:p.Ile718Met SP substitution exon 1 VAR_061732 Q96HI0:p.Leu340Phe SP substitution exon 1 VAR_061733 Q6UVK1:p.Arg1703His SP substitution exon 1 VAR_061734 Q6HA08:p.Arg204His SP substitution exon 1 VAR_061738 Q9UKF2:p.Thr737Ala SP substitution exon 1 VAR_061739 Q8TC27:p.Asp778Glu SP substitution exon 1 VAR_061740 Q9BTC0:p.Ser1708Cys SP substitution exon 1 VAR_061741 Q96T23:p.Glu304Asp SP substitution exon 1 VAR_061742 P46734:p.Arg55Thr SP substitution exon 1 VAR_061743 Q96PY6:p.Asn717Lys SP substitution exon 1 VAR_061744 P51817:p.Val43Ala SP substitution exon 1 VAR_061745 O14965:p.Ser104Leu SP substitution exon 1 VAR_061746 Q9BYT3:p.Lys60Glu SP substitution exon 1 VAR_061747 Q9NRP7:p.Val1004Ile SP substitution exon 1 VAR_061748 Q96J92:p.Ala601Ser SP substitution exon 1 VAR_061749 Q04912:p.Ser1195Gly SP substitution exon 1 VAR_061750 O14939:p.Glu632Gly SP substitution exon 1 VAR_061751 Q96BZ4:p.Cys16Arg SP substitution exon 1 VAR_061752 P31327:p.Thr344Ser SP substitution exon 1 VAR_061753 Q8TDW5:p.Arg302Cys SP substitution exon 1 VAR_061754 Q9BV36:p.Pro451Ser SP substitution exon 1 VAR_061755 Q8NFW9:p.Ala312Thr SP substitution exon 1 VAR_061756 Q8NFW9:p.Pro365Leu SP substitution exon 1 VAR_061757 Q14565:p.Gly150Asp SP substitution exon 1 VAR_061759 O14830:p.Met481Leu SP substitution exon 1 VAR_061760 Q06190:p.Asp67Asn SP substitution exon 1 VAR_061761 P23468:p.Arg995Cys SP substitution exon 1 VAR_061762 Q9HD43:p.Asp232Asn SP substitution exon 1 VAR_061763 Q9HD43:p.Val243Ile SP substitution exon 1 VAR_061765 P30414:p.Val271Gly SP substitution exon 1 VAR_061767 Q14197:p.Thr122Met SP substitution exon 1 VAR_061768 Q8HWS3:p.Ala17Glu SP substitution exon 1 VAR_061769 P49796:p.Arg809Gln SP substitution exon 1 VAR_061771 Q6P5R6:p.Val97Phe SP substitution exon 1 VAR_061772 Q6UW60:p.Thr267Met SP substitution exon 1 VAR_061773 Q9NRR2:p.Thr239Ile SP substitution exon 1 VAR_061774 Q7Z410:p.Ser659Thr SP substitution exon 1 VAR_061776 Q92876:p.Arg78Trp SP substitution exon 1 VAR_061778 Q9NRR4:p.Ser321Leu SP substitution exon 1 VAR_061779 Q92878:p.Gly469Ala SP substitution exon 1 VAR_061780 Q6NUJ1:p.Ala41Ser SP substitution exon 1 VAR_061781 Q6NUJ1:p.Gly44Arg SP substitution exon 1 VAR_061782 Q6NUJ1:p.Ala59Thr SP substitution exon 1 VAR_061783 Q969E2:p.Ala49Thr SP substitution exon 1 VAR_061784 O95398:p.Cys517Tyr SP substitution exon 1 VAR_061785 Q5JS13:p.Ser290Asn SP substitution exon 1 VAR_061786 Q76NI1:p.Arg1038Trp SP substitution exon 1 VAR_061788 Q9BTX7:p.Ala278Gly SP substitution exon 1 VAR_061789 Q9UPP2:p.Ala558Gly SP substitution exon 1 VAR_061790 P59797:p.Lys284Arg SP substitution exon 1 VAR_061791 Q86U17:p.Glu230Ala SP substitution exon 1 VAR_061792 P08697:p.Pro451Ser SP substitution exon 1 VAR_061793 Q9NXL6:p.Gly3Ser SP substitution exon 1 VAR_061794 Q9HCE6:p.Ser47Asn SP substitution exon 1 VAR_061795 O15085:p.Ser1416Gly SP substitution exon 1 VAR_061798 Q8TCU6:p.Val659Met SP substitution exon 1 VAR_061799 Q8TCU6:p.Gln786His SP substitution exon 1 VAR_061800 Q9UKW4:p.Asp139Asn SP substitution exon 1 VAR_061801 Q8N4T4:p.Cys5Phe SP substitution exon 1 VAR_061802 O00337:p.Ser546Pro SP substitution exon 1 VAR_061803 Q8TED4:p.Ile96Val SP substitution exon 1 VAR_061804 P51888:p.Gly33Arg SP substitution exon 1 VAR_061805 Q6NUI6:p.Asp721Asn SP substitution exon 1 VAR_061806 Q13084:p.Tyr230Cys SP substitution exon 1 VAR_061807 Q96FZ7:p.Gly55Ser SP substitution exon 1 VAR_061808 O15524:p.Gln210His SP substitution exon 1 VAR_061809 Q9NQ50:p.Leu11Pro SP substitution exon 1 VAR_061810 Q9BRJ2:p.Gly298Val SP substitution exon 1 VAR_061811 P51398:p.Val240Phe SP substitution exon 1 VAR_061812 Q92665:p.Asp279Asn SP substitution exon 1 VAR_061813 O94886:p.Phe121Ile SP substitution exon 1 VAR_061814 Q9H1V8:p.Ala57Thr SP substitution exon 1 VAR_061815 Q9Y5P4:p.Lys599Arg SP substitution exon 1 VAR_061816 Q92502:p.Arg327Gln SP substitution exon 1 VAR_061817 Q96PX1:p.Glu596Val SP substitution exon 1 VAR_061818 Q6ZRF8:p.Arg539Cys SP substitution exon 1 VAR_061821 P19474:p.Gln88Lys SP substitution exon 1 VAR_061823 Q9C030:p.Glu154Lys SP substitution exon 1 VAR_061824 P0CI25:p.Gly373Arg SP substitution exon 1 VAR_061825 Q8N8A6:p.Ala322Val SP substitution exon 1 VAR_061826 Q8IY37:p.Met96Ile SP substitution exon 1 VAR_061827 Q8IYD8:p.Ile208Met SP substitution exon 1 VAR_061828 Q96MM7:p.Lys127Asn SP substitution exon 1 VAR_061829 Q9P2K5:p.Gln426Arg SP substitution exon 1 VAR_061830 Q76FK4:p.Gly470Glu SP substitution exon 1 VAR_061831 P52756:p.Lys163Asn SP substitution exon 1 VAR_061833 O75526:p.Ala66Val SP substitution exon 1 VAR_061834 Q8NBV8:p.His17Gln SP substitution exon 1 VAR_061835 Q9H987:p.Pro508His SP substitution exon 1 VAR_061836 Q92750:p.Asn539Ser SP substitution exon 1 VAR_061837 O95947:p.Gly162Ser SP substitution exon 1 VAR_061839 Q9Y4R8:p.Glu7Gln SP substitution exon 1 VAR_061841 Q9Y5Y5:p.Val116Ile SP substitution exon 1 VAR_061843 Q9Y5J6:p.Ala66Ser SP substitution exon 1 VAR_061844 P37058:p.Gly289Cys SP substitution exon 1 VAR_061845 P37058:p.Gly289Arg SP substitution exon 1 VAR_061846 Q9BTZ2:p.Pro202Ser SP substitution exon 1 VAR_061847 Q8IU89:p.Tyr45Cys SP substitution exon 1 VAR_061848 P19075:p.Val35Ile SP substitution exon 1 VAR_061850 Q6UXY8:p.Ala355Thr SP substitution exon 1 VAR_061851 Q7Z403:p.Gly191Asp SP substitution exon 1 VAR_061852 Q7Z402:p.Thr355Ser SP substitution exon 1 VAR_061854 Q9UBN6:p.Arg276His SP substitution exon 1 VAR_061855 Q02223:p.Glu176Asp SP substitution exon 1 VAR_061856 O60602:p.Asn143Thr SP substitution exon 1 VAR_061857 O60602:p.Gln181Lys SP substitution exon 1 VAR_061858 O60602:p.Leu769Phe SP substitution exon 1 VAR_061859 Q99467:p.Val356Met SP substitution exon 1 VAR_061860 P55327:p.Asp52Tyr SP substitution exon 1 VAR_061861 Q9Y210:p.Ala404Val SP substitution exon 1 VAR_061863 Q0VAK6:p.Arg83His SP substitution exon 1 VAR_061864 Q9BZV2:p.Val174Ile SP substitution exon 1 VAR_061865 Q53S99:p.Ser45Leu SP substitution exon 1 VAR_061866 Q9BWV7:p.Lys441Thr SP substitution exon 1 VAR_061868 P51965:p.Glu25Asp SP substitution exon 1 VAR_061869 Q8IY18:p.His682Arg SP substitution exon 1 VAR_061870 P22310:p.His68Tyr SP substitution exon 1 VAR_061871 Q9HAW9:p.Ala173Val SP substitution exon 1 VAR_061873 Q8NB66:p.Gly609Ser SP substitution exon 1 VAR_061874 Q86WB7:p.Val308Met SP substitution exon 1 VAR_061875 P53794:p.Thr50Ala SP substitution exon 1 VAR_061876 P53794:p.Gln566Lys SP substitution exon 1 VAR_061877 Q8WWX8:p.Val539Met SP substitution exon 1 VAR_061879 Q6PXP3:p.Arg261Gln SP substitution exon 1 VAR_061880 Q9NY64:p.Ile253Thr SP substitution exon 1 VAR_061881 Q9BYW1:p.Arg301Gln SP substitution exon 1 VAR_061882 Q9BYW1:p.Lys469Glu SP substitution exon 1 VAR_061883 P15848:p.Val358Leu SP substitution exon 1 VAR_061885 Q8IWU5:p.Ala76Thr SP substitution exon 1 VAR_061886 P50225:p.Glu282Lys SP substitution exon 1 VAR_061887 P50226:p.Lys282Glu SP substitution exon 1 VAR_061888 O00338:p.Arg282Thr SP substitution exon 1 VAR_061889 O75897:p.Ile68Met SP substitution exon 1 VAR_061890 Q9H3R1:p.Arg12Gln SP substitution exon 1 VAR_061891 O60343:p.Pro619Leu SP substitution exon 1 VAR_061892 O60343:p.Val1119Ala SP substitution exon 1 VAR_061893 Q8IYQ7:p.Pro239Arg SP substitution exon 1 VAR_061896 P22003:p.Asn121Ser SP substitution exon 1 VAR_061897 P55084:p.Lys277Arg SP substitution exon 1 VAR_061898 Q8N427:p.Ile493Thr SP substitution exon 1 VAR_061899 Q9P2K2:p.Ser136Asn SP substitution exon 1 VAR_061900 Q9P2K2:p.Asn152Tyr SP substitution exon 1 VAR_061901 A1L0T0:p.Arg510Gln SP substitution exon 1 VAR_061902 Q9Y5Q9:p.Asn70Ser SP substitution exon 1 VAR_061905 Q6P3X3:p.Thr498Met SP substitution exon 1 VAR_061906 Q6IN84:p.Pro98Ser SP substitution exon 1 VAR_061907 Q13395:p.Asp513Gly SP substitution exon 1 VAR_061908 P12081:p.Ala399Val SP substitution exon 1 VAR_061911 Q8NEZ4:p.Leu291Phe SP substitution exon 1 VAR_061912 Q8NEZ4:p.Thr316Ser SP substitution exon 1 VAR_061913 Q9UMN6:p.Thr172Ile SP substitution exon 1 VAR_061914 Q8IVN8:p.Phe58Leu SP substitution exon 1 VAR_061915 A2VEC9:p.Met2452Thr SP substitution exon 1 VAR_061916 A2VEC9:p.Arg2541Gln SP substitution exon 1 VAR_061917 A2VEC9:p.Gln4107His SP substitution exon 1 VAR_061918 Q6UY14:p.Ala193Pro SP substitution exon 1 VAR_061919 Q6UY14:p.Arg1028His SP substitution exon 1 VAR_061921 P57075:p.Arg324Leu SP substitution exon 1 VAR_061922 P57075:p.Arg324Gln SP substitution exon 1 VAR_061923 Q8TF42:p.Asn569Ser SP substitution exon 1 VAR_061924 Q9BZV1:p.Ala31Thr SP substitution exon 1 VAR_061925 Q9NZJ6:p.Lys134Glu SP substitution exon 1 VAR_061926 Q6ZSZ6:p.Leu666Pro SP substitution exon 1 VAR_061927 Q15911:p.Ser146Gly SP substitution exon 1 VAR_061928 Q03112:p.Gln107Arg SP substitution exon 1 VAR_061929 Q13129:p.Pro1629Leu SP substitution exon 1 VAR_061930 Q13129:p.Gln1685Glu SP substitution exon 1 VAR_061931 Q68EA5:p.Thr357Met SP substitution exon 1 VAR_061932 Q03923:p.Gln84Arg SP substitution exon 1 VAR_061933 Q03923:p.Arg115Ile SP substitution exon 1 VAR_061934 Q03923:p.Thr177Arg SP substitution exon 1 VAR_061935 A8MXY4:p.Trp28Arg SP substitution exon 1 VAR_061936 A8MXY4:p.Lys416Ile SP substitution exon 1 VAR_061937 P52747:p.Gly461Asp SP substitution exon 1 VAR_061938 Q9Y473:p.Tyr363Asn SP substitution exon 1 VAR_061939 O75362:p.Asp889Gly SP substitution exon 1 VAR_061940 Q9UK12:p.Arg82Gly SP substitution exon 1 VAR_061941 Q9NZL3:p.Gln447His SP substitution exon 1 VAR_061942 Q9UJW7:p.Ser417Asn SP substitution exon 1 VAR_061943 O14978:p.Arg646Gln SP substitution exon 1 VAR_061944 Q9NW07:p.Asn32Ser SP substitution exon 1 VAR_061945 Q9C0G0:p.Ser1259Leu SP substitution exon 1 VAR_061946 Q7Z4V0:p.Leu693Val SP substitution exon 1 VAR_061947 Q9Y2A4:p.Lys111Ile SP substitution exon 1 VAR_061948 Q9Y2A4:p.Gln397His SP substitution exon 1 VAR_061949 Q96JG9:p.Ser357Pro SP substitution exon 1 VAR_061950 Q6ECI4:p.Ile642Thr SP substitution exon 1 VAR_061951 Q9BX82:p.Gln309Arg SP substitution exon 1 VAR_061952 Q96CX3:p.Ile147Val SP substitution exon 1 VAR_061953 Q8TBZ5:p.Gln174Arg SP substitution exon 1 VAR_061954 Q96KM6:p.Val288Met SP substitution exon 1 VAR_061955 Q9C0D4:p.Gly92Ser SP substitution exon 1 VAR_061956 Q8NAF0:p.Glu353Asp SP substitution exon 1 VAR_061957 Q96JF6:p.Gln166His SP substitution exon 1 VAR_061959 Q8N883:p.Gly160Glu SP substitution exon 1 VAR_061960 Q08AN1:p.Pro50Ser SP substitution exon 1 VAR_061961 Q6ZS27:p.Asn176Ser SP substitution exon 1 VAR_061962 Q5SXM1:p.Pro152Thr SP substitution exon 1 VAR_061963 Q8IW36:p.Met110Ile SP substitution exon 1 VAR_061964 Q9NV72:p.Asp240Glu SP substitution exon 1 VAR_061966 Q96MU6:p.Asn683Asp SP substitution exon 1 VAR_061968 A4D1E1:p.Asn914His SP substitution exon 1 VAR_061969 A4D1E1:p.Thr915Ile SP substitution exon 1 VAR_061977 Q9Y2P0:p.Glu29Lys SP substitution exon 1 VAR_061978 Q9Y2P0:p.Glu88Ala SP substitution exon 1 VAR_061979 Q96EG3:p.Ala242Thr SP substitution exon 1 VAR_061982 P06396:p.Asn231Asp SP substitution exon 1 VAR_061983 Q9P1Q0:p.Met912Ile SP substitution exon 1 VAR_061984 Q8TEU8:p.Arg31Gln SP substitution exon 1 VAR_061985 P46934:p.Met33Val SP substitution exon 1 VAR_061986 Q7Z6Z7:p.Asn483Ser SP substitution exon 1 VAR_061987 P23025:p.Met256Val SP substitution exon 1 VAR_061988 Q96NY9:p.Ser115Phe SP substitution exon 1 VAR_061989 A6XGL0:p.Ala213Thr SP substitution exon 1 VAR_061991 O14964:p.Ala733Ser SP substitution exon 1 VAR_061992 Q86UP6:p.Gly156Ser SP substitution exon 1 VAR_061993 P07911:p.Val458Leu SP substitution exon 1 VAR_061994 P55789:p.Phe166Leu SP substitution exon 1 VAR_061996 Q8IUC4:p.Arg70Gln SP substitution exon 1 VAR_061997 Q8IUC4:p.Ala342Pro SP substitution exon 1 VAR_061998 Q9NX76:p.Thr91Ala SP substitution exon 1 VAR_061999 Q5C9Z4:p.Arg24Gly SP substitution exon 1 VAR_062000 Q9BZ29:p.Ala455Thr SP substitution exon 1 VAR_062001 Q9NX05:p.Met934Ile SP substitution exon 1 VAR_062002 Q7L591:p.Gly22Arg SP substitution exon 1 VAR_062003 Q9BXX0:p.Pro903Ser SP substitution exon 1 VAR_062004 Q8NHY3:p.Arg829Trp SP substitution exon 1 VAR_062005 Q96QA5:p.Thr314Asn SP substitution exon 1 VAR_062006 P15421:p.Gly13Glu SP substitution exon 1 VAR_062007 Q9Y585:p.Leu244Phe SP substitution exon 1 VAR_062008 P34982:p.Val214Met SP substitution exon 1 VAR_062009 O60431:p.Ile50Phe SP substitution exon 1 VAR_062010 Q8NGS2:p.Ala119Thr SP substitution exon 1 VAR_062011 Q8NGS0:p.Arg227Gln SP substitution exon 1 VAR_062012 Q8NGR9:p.Arg237Cys SP substitution exon 1 VAR_062013 Q8NGQ3:p.Ile59Thr SP substitution exon 1 VAR_062014 Q9GZK3:p.Ala300Ser SP substitution exon 1 VAR_062015 Q5JQS5:p.Ile130Ser SP substitution exon 1 VAR_062016 Q8N628:p.Leu289Val SP substitution exon 1 VAR_062017 Q9H210:p.His84Tyr SP substitution exon 1 VAR_062018 Q9H210:p.Arg220Gly SP substitution exon 1 VAR_062019 Q8NHA4:p.Tyr217Cys SP substitution exon 1 VAR_062020 Q5TZ20:p.Met59Val SP substitution exon 1 VAR_062021 Q8NG85:p.Ile39Thr SP substitution exon 1 VAR_062022 Q8NG85:p.Pro78Leu SP substitution exon 1 VAR_062023 Q8NG85:p.Met139Val SP substitution exon 1 VAR_062024 Q8NGY9:p.His226Arg SP substitution exon 1 VAR_062025 Q8N349:p.Arg265His SP substitution exon 1 VAR_062026 Q96R28:p.Ser87Cys SP substitution exon 1 VAR_062027 Q8NH00:p.Asn31Ser SP substitution exon 1 VAR_062028 A6NH00:p.Val69Met SP substitution exon 1 VAR_062029 A6NH00:p.Arg311His SP substitution exon 1 VAR_062030 Q8NH04:p.Lys45Met SP substitution exon 1 VAR_062031 Q8NG97:p.Arg138Cys SP substitution exon 1 VAR_062032 P47893:p.Leu190Val SP substitution exon 1 VAR_062033 Q8NH83:p.Lys23Asn SP substitution exon 1 VAR_062034 Q8NH83:p.Leu219Gln SP substitution exon 1 VAR_062035 P58180:p.Leu29Ile SP substitution exon 1 VAR_062036 Q8NH43:p.Gly16Val SP substitution exon 1 VAR_062037 Q8NH43:p.Ile160Thr SP substitution exon 1 VAR_062038 Q8NGP9:p.Ile225Val SP substitution exon 1 VAR_062039 Q8NGC0:p.Ser194Leu SP substitution exon 1 VAR_062040 Q8NGC0:p.Asn274Lys SP substitution exon 1 VAR_062041 A6NL26:p.Ser272Tyr SP substitution exon 1 VAR_062042 Q8NGL1:p.His270Arg SP substitution exon 1 VAR_062043 O95221:p.Thr192Ala SP substitution exon 1 VAR_062044 Q8NGL2:p.Arg54Trp SP substitution exon 1 VAR_062045 Q8NGL0:p.Val59Met SP substitution exon 1 VAR_062046 Q8NH69:p.Phe310Tyr SP substitution exon 1 VAR_062047 Q6IFH4:p.Cys179Arg SP substitution exon 1 VAR_062048 Q6IFH4:p.Arg227Cys SP substitution exon 1 VAR_062049 Q8NGW1:p.Cys234Tyr SP substitution exon 1 VAR_062050 A6NIJ9:p.Lys233Asn SP substitution exon 1 VAR_062051 Q8NGZ6:p.Leu13Pro SP substitution exon 1 VAR_062052 Q8NGY3:p.Gln159His SP substitution exon 1 VAR_062053 Q8NGY3:p.Asp279Asn SP substitution exon 1 VAR_062054 Q8NGY6:p.Ile250Val SP substitution exon 1 VAR_062055 Q8NGX8:p.Thr104Ile SP substitution exon 1 VAR_062056 Q8NG98:p.Leu17Phe SP substitution exon 1 VAR_062057 Q8NGG7:p.Thr133Arg SP substitution exon 1 VAR_062058 Q96RD0:p.His20Arg SP substitution exon 1 VAR_062059 Q96RD0:p.Ser273Phe SP substitution exon 1 VAR_062060 Q8N162:p.Val284Met SP substitution exon 1 VAR_062061 Q8NGE9:p.Cys179Arg SP substitution exon 1 VAR_062062 O60403:p.Leu40Gln SP substitution exon 1 VAR_062063 Q8NGA5:p.Thr281Ala SP substitution exon 1 VAR_062064 Q8NHC4:p.Arg233Trp SP substitution exon 1 VAR_062065 Q8NGQ4:p.Arg191Cys SP substitution exon 1 VAR_062066 Q8NGV5:p.Met113Val SP substitution exon 1 VAR_062067 Q8NGZ3:p.Lys46Ile SP substitution exon 1 VAR_062068 Q8NGZ3:p.Met146Leu SP substitution exon 1 VAR_062069 Q8NGZ3:p.Arg224Cys SP substitution exon 1 VAR_062070 Q8NHC7:p.Gln141Arg SP substitution exon 1 VAR_062071 Q8NHC7:p.Gly225Arg SP substitution exon 1 VAR_062072 Q8NHC7:p.Asp231Tyr SP substitution exon 1 VAR_062073 A6ND48:p.Leu84Met SP substitution exon 1 VAR_062074 A6ND48:p.Tyr216Cys SP substitution exon 1 VAR_062075 Q8NGJ7:p.Gly45Cys SP substitution exon 1 VAR_062076 Q8NGJ6:p.Gly45Cys SP substitution exon 1 VAR_062077 Q8NGJ6:p.Arg311Trp SP substitution exon 1 VAR_062078 Q9H339:p.Thr78Lys SP substitution exon 1 VAR_062079 Q9H339:p.Arg88Gly SP substitution exon 1 VAR_062080 Q8NGK1:p.Gln303His SP substitution exon 1 VAR_062082 Q8NGH9:p.Phe227Leu SP substitution exon 1 VAR_062083 Q8NGJ2:p.Val45Ala SP substitution exon 1 VAR_062084 Q9NYW3:p.Thr263Met SP substitution exon 1 VAR_062085 Q9NYV8:p.Leu201Phe SP substitution exon 1 VAR_062086 Q7RTR8:p.Tyr175Phe SP substitution exon 1 VAR_062087 Q7RTR8:p.Gly255Trp SP substitution exon 1 VAR_062088 Q7RTR8:p.Arg292Gln SP substitution exon 1 VAR_062089 Q7RTR8:p.Ala311Pro SP substitution exon 1 VAR_062090 P59538:p.Pro276Arg SP substitution exon 1 VAR_062091 P59540:p.Leu228Met SP substitution exon 1 VAR_062092 Q8TCD6:p.Lys206Glu SP substitution exon 1 VAR_062093 Q9UI47:p.Arg535Cys SP substitution exon 1 VAR_062094 Q8TDJ6:p.Glu144Gln SP substitution exon 1 VAR_062095 Q9NZJ0:p.Ser425Asn SP substitution exon 1 VAR_062096 Q8N3Y1:p.Val563Met SP substitution exon 1 VAR_062098 Q96RY7:p.Ser561Asn SP substitution exon 1 VAR_062099 Q9BVA0:p.Met181Val SP substitution exon 1 VAR_062101 Q8IZU2:p.Ile418Val SP substitution exon 1 VAR_062102 Q9P2L0:p.Ala878Pro SP substitution exon 1 VAR_062103 Q9P2L0:p.Ala878Thr SP substitution exon 1 VAR_062104 Q5VW00:p.His147Gln SP substitution exon 1 VAR_062105 Q96MT7:p.Lys53Glu SP substitution exon 1 VAR_062106 Q3MJ13:p.Lys781Glu SP substitution exon 1 VAR_062110 P11532:p.Ser666Leu SP substitution exon 1 VAR_062111 Q9UHI7:p.Ser421Ala SP substitution exon 1 VAR_062112 P60372:p.Gly285Cys SP substitution exon 1 VAR_062113 P60370:p.Cys4Ser SP substitution exon 1 VAR_062114 P60014:p.Val116Met SP substitution exon 1 VAR_062115 P59991:p.Ser29Pro SP substitution exon 1 VAR_062116 Q5T752:p.Arg78His SP substitution exon 1 VAR_062117 Q5T753:p.Gly111Ser SP substitution exon 1 VAR_062118 Q5TA79:p.Cys20Tyr SP substitution exon 1 VAR_062119 O14633:p.Arg83Gln SP substitution exon 1 VAR_062120 Q9BYE3:p.Gly81Val SP substitution exon 1 VAR_062121 O60732:p.His709Tyr SP substitution exon 1 VAR_062122 Q12816:p.Arg65Trp SP substitution exon 1 VAR_062123 Q96JQ5:p.Leu191Ile SP substitution exon 1 VAR_062124 Q5J8X5:p.Gly3Asp SP substitution exon 1 VAR_062125 Q5J8X5:p.Ile7Val SP substitution exon 1 VAR_062126 Q86XR2:p.Thr493Met SP substitution exon 1 VAR_062127 Q9Y6K5:p.Arg378Lys SP substitution exon 1 VAR_062128 P47712:p.Ile637Val SP substitution exon 1 VAR_062129 Q96ST3:p.Met1156Leu SP substitution exon 1 VAR_062131 Q9BZ72:p.Leu661Met SP substitution exon 1 VAR_062132 Q9BZ71:p.Pro17Ser SP substitution exon 1 VAR_062133 Q15149:p.His1459Arg SP substitution exon 1 VAR_062136 O00592:p.Thr126Pro SP substitution exon 1 VAR_062137 P78395:p.Met218Val SP substitution exon 1 VAR_062138 O95521:p.Arg213His SP substitution exon 1 VAR_062139 Q9BS40:p.Thr134Met SP substitution exon 1 VAR_062140 Q9NX02:p.Gly884Arg SP substitution exon 1 VAR_062141 P59045:p.Asn233Asp SP substitution exon 1 VAR_062142 Q13702:p.Phe81Leu SP substitution exon 1 VAR_062143 Q9H1J1:p.Arg64Lys SP substitution exon 1 VAR_062145 Q96MS0:p.Pro868Leu SP substitution exon 1 VAR_062146 Q8WZ75:p.Gln54Arg SP substitution exon 1 VAR_062147 Q15398:p.Glu753Gln SP substitution exon 1 VAR_062148 A0AV02:p.Ile281Val SP substitution exon 1 VAR_062149 Q7RTY1:p.Ala203Val SP substitution exon 1 VAR_062150 Q9NPD5:p.Gly256Ala SP substitution exon 1 VAR_062151 Q8WW24:p.Ser100Gly SP substitution exon 1 VAR_062152 Q9BU02:p.His176Arg SP substitution exon 1 VAR_062153 Q9BZW4:p.Glu167Lys SP substitution exon 1 VAR_062154 Q969W9:p.Glu128Asp SP substitution exon 1 VAR_062155 Q6L8G9:p.Cys6Phe SP substitution exon 1 VAR_062156 O75690:p.Cys28Arg SP substitution exon 1 VAR_062157 Q6ZMB5:p.Ala18Val SP substitution exon 1 VAR_062158 Q9GZP1:p.Glu160Gln SP substitution exon 1 VAR_062160 Q9UJ78:p.Thr231Ala SP substitution exon 1 VAR_062161 Q96MP5:p.Arg291Trp SP substitution exon 1 VAR_062162 O95926:p.Ala89Val SP substitution exon 1 VAR_062163 Q86XD8:p.Thr523Ala SP substitution exon 1 VAR_062164 Q6ZQR2:p.Lys244Gln SP substitution exon 1 VAR_062165 Q9BRP7:p.Thr28Ala SP substitution exon 1 VAR_062166 Q8NDA8:p.Ala38Val SP substitution exon 1 VAR_062167 Q6N022:p.Arg14Gln SP substitution exon 1 VAR_062168 Q86TB3:p.Gly1063Val SP substitution exon 1 VAR_062169 Q5THJ4:p.Ile1624Thr SP substitution exon 1 VAR_062170 A6NNB3:p.Gly27Ala SP substitution exon 1 VAR_062171 Q13835:p.Ala463Val SP substitution exon 1 VAR_062172 Q15154:p.Ser159Arg SP substitution exon 1 VAR_062173 A0FGR9:p.Thr662Ser SP substitution exon 1 VAR_062174 Q9NWH7:p.Cys478Phe SP substitution exon 1 VAR_062175 Q9NWH7:p.Cys478Ser SP substitution exon 1 VAR_062177 Q8IVF4:p.Thr1986Met SP substitution exon 1 VAR_062181 Q9BT17:p.Ile293Val SP substitution exon 1 VAR_062182 Q14721:p.Thr616Asn SP substitution exon 1 VAR_062183 Q14721:p.Thr616Ser SP substitution exon 1 VAR_062184 Q14721:p.Ser857Asn SP substitution exon 1 VAR_062185 Q03721:p.Arg516Gln SP substitution exon 1 VAR_062186 Q7Z7L1:p.Arg489Leu SP substitution exon 1 VAR_062187 Q8NHP8:p.Gln54Pro SP substitution exon 1 VAR_062188 Q9ULE6:p.Gly828Arg SP substitution exon 1 VAR_062189 Q6ZRV2:p.Gln201His SP substitution exon 1 VAR_062190 A1XBS5:p.Arg222Gln SP substitution exon 1 VAR_062191 Q5T0F9:p.Met35Thr SP substitution exon 1 VAR_062192 Q96EM0:p.Pro125Ser SP substitution exon 1 VAR_062193 Q9Y4F9:p.Arg868Gln SP substitution exon 1 VAR_062194 Q96MK2:p.Cys566Ser SP substitution exon 1 VAR_062195 Q6PIZ9:p.Asp137Gly SP substitution exon 1 VAR_062196 Q6PIZ9:p.Ser148Pro SP substitution exon 1 VAR_062197 Q9UHN6:p.Arg291Leu SP substitution exon 1 VAR_062198 Q9UHN6:p.Arg291Pro SP substitution exon 1 VAR_062199 P21127:p.Arg109Cys SP substitution exon 1 VAR_062201 Q6ZNB7:p.Phe279Leu SP substitution exon 1 VAR_062202 Q6ZNB7:p.Ser280Tyr SP substitution exon 1 VAR_062203 Q6ZUB1:p.Thr208Ser SP substitution exon 1 VAR_062204 Q8IXM7:p.Pro41Leu SP substitution exon 1 VAR_062205 Q96KS9:p.His56Gln SP substitution exon 1 VAR_062206 Q96KS9:p.Thr107Ser SP substitution exon 1 VAR_062208 Q7Z5B4:p.Cys130Tyr SP substitution exon 1 VAR_062209 Q3MHD2:p.Val173Leu SP substitution exon 1 VAR_062210 Q9HCE0:p.Lys182Glu SP substitution exon 1 VAR_062211 Q9NVL1:p.Pro135Leu SP substitution exon 1 VAR_062212 Q96QD5:p.Thr464Ile SP substitution exon 1 VAR_062213 A6NKF1:p.Leu155Arg SP substitution exon 1 VAR_062215 A7XYQ1:p.Ser683Gly SP substitution exon 1 VAR_062216 Q8N129:p.Gly168Arg SP substitution exon 1 VAR_062217 Q7RTS5:p.Leu477Val SP substitution exon 1 VAR_062218 Q49AJ0:p.Ser578Asn SP substitution exon 1 VAR_062219 Q49AJ0:p.Val1142Ile SP substitution exon 1 VAR_062220 Q6UWX4:p.His391Asp SP substitution exon 1 VAR_062221 Q6UWX4:p.Arg394Gln SP substitution exon 1 VAR_062222 Q6UWX4:p.Arg434Leu SP substitution exon 1 VAR_062223 P53814:p.Arg642Cys SP substitution exon 1 VAR_062224 Q9BYT8:p.Gly79Ser SP substitution exon 1 VAR_062225 Q8N9H8:p.Arg20Gln SP substitution exon 1 VAR_062226 O75807:p.Gly312Ser SP substitution exon 1 VAR_062227 Q8N6N6:p.Val42Ile SP substitution exon 1 VAR_062228 Q92616:p.Tyr2155Asp SP substitution exon 1 VAR_062229 Q5VZV1:p.Gly15Arg SP substitution exon 1 VAR_062230 P85299:p.Val243Met SP substitution exon 1 VAR_062231 Q8WV07:p.Gly3Ser SP substitution exon 1 VAR_062233 Q86VR8:p.Arg415His SP substitution exon 1 VAR_062234 A8K8P3:p.Arg760His SP substitution exon 1 VAR_062235 O43151:p.Arg577Gln SP substitution exon 1 VAR_062236 Q9Y4I5:p.Val260Ala SP substitution exon 1 VAR_062237 Q6NVV7:p.Leu70Arg SP substitution exon 1 VAR_062238 Q7Z6L1:p.Pro944Leu SP substitution exon 1 VAR_062241 Q8IUF8:p.Pro201Leu SP substitution exon 1 VAR_062243 Q7Z4H7:p.Ser552Thr SP substitution exon 1 VAR_062244 Q2VPK5:p.His186Tyr SP substitution exon 1 VAR_062245 Q96BM0:p.Gly35Ser SP substitution exon 1 VAR_062246 O00526:p.Thr160Met SP substitution exon 1 VAR_062247 Q8IWF2:p.Arg71Cys SP substitution exon 1 VAR_062248 Q4G0A6:p.Cys465Tyr SP substitution exon 1 VAR_062249 Q12799:p.Gly45Glu SP substitution exon 1 VAR_062250 Q9UPP1:p.Phe315Ser SP substitution exon 1 VAR_062251 P23467:p.Arg94Lys SP substitution exon 1 VAR_062252 P23467:p.Ser127Gly SP substitution exon 1 VAR_062253 O95859:p.Leu57Ser SP substitution exon 1 VAR_062255 Q13585:p.Thr532Ala SP substitution exon 1 VAR_062256 Q13585:p.Ile606Val SP substitution exon 1 VAR_062257 Q6UWI2:p.Ser127Leu SP substitution exon 1 VAR_062258 O00165:p.Pro49Ser SP substitution exon 1 VAR_062259 O00165:p.Phe141Leu SP substitution exon 1 VAR_062260 O00165:p.Ser151Gly SP substitution exon 1 VAR_062261 O00165:p.Ser278Pro SP substitution exon 1 VAR_062262 Q15654:p.Arg111Gln SP substitution exon 1 VAR_062263 Q9NZN1:p.Lys379Arg SP substitution exon 1 VAR_062264 Q9NZN1:p.Gln618His SP substitution exon 1 VAR_062265 Q9NZN1:p.Thr637Ser SP substitution exon 1 VAR_062266 Q9NZN1:p.Ile643Val SP substitution exon 1 VAR_062267 P41235:p.Val453Ile SP substitution exon 1 VAR_062268 Q96RR1:p.Gly348Arg SP substitution exon 1 VAR_062269 Q96RR1:p.Asn634Lys SP substitution exon 1 VAR_062270 Q9UQB3:p.Gly275Cys SP substitution exon 1 VAR_062271 Q9UQB3:p.Ala482Thr SP substitution exon 1 VAR_062272 Q9UQB3:p.Gly810Arg SP substitution exon 1 VAR_062273 Q5VT66:p.Leu15His SP substitution exon 1 VAR_062274 Q5VT66:p.Asp247His SP substitution exon 1 VAR_062275 Q969Z3:p.Ala3Ser SP substitution exon 1 VAR_062276 Q16772:p.Gly36Glu SP substitution exon 1 VAR_062277 Q16772:p.Arg113Gln SP substitution exon 1 VAR_062279 Q30201:p.Arg224Gln SP substitution exon 1 VAR_062280 P36871:p.Thr115Ala SP substitution exon 1 VAR_062281 Q96S42:p.Gly260Arg SP substitution exon 1 VAR_062282 Q96S42:p.Arg275Cys SP substitution exon 1 VAR_062283 Q96S42:p.Val284Phe SP substitution exon 1 VAR_062284 Q69YU5:p.Arg45Cys SP substitution exon 1 VAR_062285 Q9UPZ3:p.Leu624Arg SP substitution exon 1 VAR_062287 Q9NXB0:p.Arg123Gln SP substitution exon 1 VAR_062288 Q9NXB0:p.Arg166Trp SP substitution exon 1 VAR_062289 Q9NXB0:p.Asp286Gly SP substitution exon 1 VAR_062293 Q9P2K1:p.Thr1114Met SP substitution exon 1 VAR_062294 Q15437:p.Arg14Trp SP substitution exon 1 VAR_062295 Q15437:p.Arg18His SP substitution exon 1 VAR_062296 Q15437:p.Glu109Lys SP substitution exon 1 VAR_062297 Q15437:p.Asp239Gly SP substitution exon 1 VAR_062298 Q15437:p.Arg313His SP substitution exon 1 VAR_062299 Q15437:p.Ile318Thr SP substitution exon 1 VAR_062300 Q15437:p.Asp348Ala SP substitution exon 1 VAR_062301 Q15437:p.Met373Val SP substitution exon 1 VAR_062302 Q15437:p.Gln386Arg SP substitution exon 1 VAR_062303 Q15437:p.Val426Ile SP substitution exon 1 VAR_062304 Q15437:p.Tyr462Cys SP substitution exon 1 VAR_062305 Q15437:p.Arg497Cys SP substitution exon 1 VAR_062306 Q15437:p.Ala524Val SP substitution exon 1 VAR_062307 Q15437:p.Arg530Trp SP substitution exon 1 VAR_062308 Q15437:p.Ser603Leu SP substitution exon 1 VAR_062309 Q15437:p.Arg701Cys SP substitution exon 1 VAR_062310 Q5HYA8:p.Tyr54Cys SP substitution exon 1 VAR_062311 Q5HYA8:p.Gly218Ala SP substitution exon 1 VAR_062312 Q5HYA8:p.Ser245Phe SP substitution exon 1 VAR_062313 Q5HYA8:p.Met252Thr SP substitution exon 1 VAR_062314 Q5HYA8:p.Asp261Asn SP substitution exon 1 VAR_062315 Q5HYA8:p.Trp296Cys SP substitution exon 1 VAR_062316 Q5HYA8:p.Ser320Cys SP substitution exon 1 VAR_062317 Q5HYA8:p.Leu437Val SP substitution exon 1 VAR_062318 Q5HYA8:p.Arg440Gln SP substitution exon 1 VAR_062319 Q5HYA8:p.Cys615Arg SP substitution exon 1 VAR_062320 Q5HYA8:p.Leu966Pro SP substitution exon 1 VAR_062321 Q8TAA9:p.Glu25Lys SP substitution exon 1 VAR_062322 Q8TAA9:p.Ser83Leu SP substitution exon 1 VAR_062323 Q8TAA9:p.Phe153Ser SP substitution exon 1 VAR_062324 Q8TAA9:p.Arg175Gln SP substitution exon 1 VAR_062325 Q8TAA9:p.Arg181Gln SP substitution exon 1 VAR_062326 Q8TAA9:p.Leu202Phe SP substitution exon 1 VAR_062327 Q8TAA9:p.Thr251Met SP substitution exon 1 VAR_062328 Q8TAA9:p.Tyr290His SP substitution exon 1 VAR_062329 Q8TAA9:p.Ala404Ser SP substitution exon 1 VAR_062330 Q8TAA9:p.Asp468Glu SP substitution exon 1 VAR_062331 Q9HBA0:p.Ile331Phe SP substitution exon 1 VAR_062332 Q9HBA0:p.Asp333Gly SP substitution exon 1 VAR_062333 Q9HBA0:p.Arg594His SP substitution exon 1 VAR_062334 Q9HBA0:p.Ala716Ser SP substitution exon 1 VAR_062335 Q9HBA0:p.Pro799Leu SP substitution exon 1 VAR_062336 P22888:p.Val144Phe SP substitution exon 1 VAR_062337 P22888:p.Ile152Thr SP substitution exon 1 VAR_062338 P22888:p.Leu368Pro SP substitution exon 1 VAR_062339 P22888:p.Leu502Pro SP substitution exon 1 VAR_062340 P16278:p.Arg49His SP substitution exon 1 VAR_062341 P16278:p.Arg68Gln SP substitution exon 1 VAR_062342 P16278:p.Lys73Glu SP substitution exon 1 VAR_062343 P16278:p.Tyr83Cys SP substitution exon 1 VAR_062344 P16278:p.Met132Thr SP substitution exon 1 VAR_062345 P16278:p.Pro136Ser SP substitution exon 1 VAR_062346 P16278:p.Arg148Cys SP substitution exon 1 VAR_062347 P16278:p.Ser149Phe SP substitution exon 1 VAR_062348 P16278:p.Asp151Val SP substitution exon 1 VAR_062349 P16278:p.Leu173Pro SP substitution exon 1 VAR_062350 P16278:p.Gln184Arg SP substitution exon 1 VAR_062351 P16278:p.Gly190Asp SP substitution exon 1 VAR_062352 P16278:p.Asp198Tyr SP substitution exon 1 VAR_062353 P16278:p.Tyr199Cys SP substitution exon 1 VAR_062354 P16278:p.Gln255His SP substitution exon 1 VAR_062355 P16278:p.Leu264Ser SP substitution exon 1 VAR_062356 P16278:p.Asn318His SP substitution exon 1 VAR_062357 P16278:p.Thr329Ile SP substitution exon 1 VAR_062358 P16278:p.Asp332Glu SP substitution exon 1 VAR_062359 P16278:p.Tyr333His SP substitution exon 1 VAR_062360 P16278:p.Lys346Asn SP substitution exon 1 VAR_062361 P16278:p.Tyr347Cys SP substitution exon 1 VAR_062362 P16278:p.Pro397Ala SP substitution exon 1 VAR_062363 P16278:p.Thr420Lys SP substitution exon 1 VAR_062364 P16278:p.Thr420Pro SP substitution exon 1 VAR_062365 P16278:p.Leu422Arg SP substitution exon 1 VAR_062366 P16278:p.Asp441Asn SP substitution exon 1 VAR_062367 P16278:p.Arg442Gln SP substitution exon 1 VAR_062368 P16278:p.Tyr444Cys SP substitution exon 1 VAR_062369 P16278:p.Gly494Ser SP substitution exon 1 VAR_062370 P16278:p.Pro597Ser SP substitution exon 1 VAR_062371 P01130:p.Cys134Phe SP substitution exon 1 VAR_062372 P01130:p.Cys134Trp SP substitution exon 1 VAR_062373 P01130:p.Cys222Tyr SP substitution exon 1 VAR_062374 P01130:p.Gln254Pro SP substitution exon 1 VAR_062375 P01130:p.Cys276Arg SP substitution exon 1 VAR_062376 P01130:p.Cys318Arg SP substitution exon 1 VAR_062377 P01130:p.Cys358Tyr SP substitution exon 1 VAR_062378 P01130:p.Asn370Thr SP substitution exon 1 VAR_062379 P01130:p.Asp415Gly SP substitution exon 1 VAR_062380 P01130:p.Ile451Thr SP substitution exon 1 VAR_062381 P01130:p.Leu479Pro SP substitution exon 1 VAR_062382 P01130:p.Asp579Tyr SP substitution exon 1 VAR_062384 Q9H4B4:p.Asp491Asn SP substitution exon 1 VAR_062386 Q70SY1:p.Val130Ile SP substitution exon 1 VAR_062387 Q14126:p.Val56Met SP substitution exon 1 VAR_062388 Q14126:p.Val158Gly SP substitution exon 1 VAR_062389 Q14126:p.Glu713Lys SP substitution exon 1 VAR_062390 Q14126:p.Val920Gly SP substitution exon 1 VAR_062391 Q02487:p.Thr358Ile SP substitution exon 1 VAR_062392 Q02487:p.Arg798Gln SP substitution exon 1 VAR_062394 P46019:p.Pro498Leu SP substitution exon 1 VAR_062395 P46019:p.Pro869Arg SP substitution exon 1 VAR_062396 P46019:p.Arg916Trp SP substitution exon 1 VAR_062398 P46019:p.Met1113Ile SP substitution exon 1 VAR_062399 Q13424:p.Ala257Gly SP substitution exon 1 VAR_062400 Q13424:p.Ala390Val SP substitution exon 1 VAR_062401 P51168:p.Ser82Cys SP substitution exon 1 VAR_062402 P51168:p.Pro267Leu SP substitution exon 1 VAR_062403 P51168:p.Asn288Ser SP substitution exon 1 VAR_062404 P51168:p.Gly294Ser SP substitution exon 1 VAR_062405 P51168:p.Val348Met SP substitution exon 1 VAR_062406 P51168:p.Pro369Thr SP substitution exon 1 VAR_062407 P51168:p.Glu539Lys SP substitution exon 1 VAR_062408 P51160:p.Arg29Trp SP substitution exon 1 VAR_062409 P51160:p.Tyr323Asn SP substitution exon 1 VAR_062410 P51160:p.Met455Val SP substitution exon 1 VAR_062411 Q96QD9:p.Arg87His SP substitution exon 1 VAR_062412 Q02127:p.Gly19Glu SP substitution exon 1 VAR_062413 Q02127:p.Arg135Cys SP substitution exon 1 VAR_062414 Q02127:p.Gly152Arg SP substitution exon 1 VAR_062415 Q02127:p.Arg199Cys SP substitution exon 1 VAR_062416 Q02127:p.Gly202Ala SP substitution exon 1 VAR_062417 Q02127:p.Gly202Asp SP substitution exon 1 VAR_062418 Q02127:p.Arg244Trp SP substitution exon 1 VAR_062419 Q02127:p.Thr284Ile SP substitution exon 1 VAR_062420 Q02127:p.Arg346Trp SP substitution exon 1 VAR_062421 Q02127:p.Asp392Gly SP substitution exon 1 VAR_062422 Q9H6W3:p.Lys17Arg SP substitution exon 1 VAR_062423 Q9H6W3:p.Val364Ala SP substitution exon 1 VAR_062424 P68133:p.Asp3Tyr SP substitution exon 1 VAR_062425 P68133:p.Asp27Asn SP substitution exon 1 VAR_062426 P68133:p.Val37Leu SP substitution exon 1 VAR_062427 P68133:p.Pro40Leu SP substitution exon 1 VAR_062428 P68133:p.Gln43Arg SP substitution exon 1 VAR_062429 P68133:p.Gly44Val SP substitution exon 1 VAR_062430 P68133:p.Val45Phe SP substitution exon 1 VAR_062431 P68133:p.Ile66Asn SP substitution exon 1 VAR_062432 P68133:p.Thr68Ile SP substitution exon 1 VAR_062433 P68133:p.Glu74Lys SP substitution exon 1 VAR_062434 P68133:p.His75Leu SP substitution exon 1 VAR_062435 P68133:p.His75Arg SP substitution exon 1 VAR_062436 P68133:p.Ile77Leu SP substitution exon 1 VAR_062437 P68133:p.Thr79Ala SP substitution exon 1 VAR_062438 P68133:p.Glu85Lys SP substitution exon 1 VAR_062439 P68133:p.Ala116Thr SP substitution exon 1 VAR_062440 P68133:p.Asn117Thr SP substitution exon 1 VAR_062441 P68133:p.Arg118His SP substitution exon 1 VAR_062442 P68133:p.Val136Ala SP substitution exon 1 VAR_062443 P68133:p.Ala140Pro SP substitution exon 1 VAR_062444 P68133:p.Leu142Pro SP substitution exon 1 VAR_062445 P68133:p.Gly148Asp SP substitution exon 1 VAR_062446 P68133:p.Thr150Asn SP substitution exon 1 VAR_062447 P68133:p.Asp156Asn SP substitution exon 1 VAR_062448 P68133:p.Val165Met SP substitution exon 1 VAR_062449 P68133:p.Ala172Gly SP substitution exon 1 VAR_062450 P68133:p.Asp181Gly SP substitution exon 1 VAR_062451 P68133:p.Asp181His SP substitution exon 1 VAR_062452 P68133:p.Asp181Asn SP substitution exon 1 VAR_062453 P68133:p.Arg185Asp SP substitution exon 1 VAR_062454 P68133:p.Arg185Ser SP substitution exon 1 VAR_062455 P68133:p.Arg198Leu SP substitution exon 1 VAR_062456 P68133:p.Gly199Ser SP substitution exon 1 VAR_062457 P68133:p.Glu226Gly SP substitution exon 1 VAR_062458 P68133:p.Glu226Gln SP substitution exon 1 VAR_062459 P68133:p.Asn227Val SP substitution exon 1 VAR_062460 P68133:p.Met229Ile SP substitution exon 1 VAR_062461 P68133:p.Met229Thr SP substitution exon 1 VAR_062462 P68133:p.Met229Val SP substitution exon 1 VAR_062463 P68133:p.Glu243Lys SP substitution exon 1 VAR_062464 P68133:p.Gln248Lys SP substitution exon 1 VAR_062465 P68133:p.Gln248Arg SP substitution exon 1 VAR_062466 P68133:p.Gly253Asp SP substitution exon 1 VAR_062467 P68133:p.Arg258Leu SP substitution exon 1 VAR_062468 P68133:p.Gly270Asp SP substitution exon 1 VAR_062469 P68133:p.Gly270Arg SP substitution exon 1 VAR_062470 P68133:p.Ala274Glu SP substitution exon 1 VAR_062471 P68133:p.Tyr281His SP substitution exon 1 VAR_062472 P68133:p.Met285Lys SP substitution exon 1 VAR_062473 P68133:p.Glu336Ala SP substitution exon 1 VAR_062474 P68133:p.Lys338Glu SP substitution exon 1 VAR_062475 P68133:p.Lys338Ile SP substitution exon 1 VAR_062476 P68133:p.Ser350Leu SP substitution exon 1 VAR_062477 P68133:p.Arg374Ser SP substitution exon 1 VAR_062478 P68133:p.Lys375Glu SP substitution exon 1 VAR_062479 P68133:p.Lys375Gln SP substitution exon 1 VAR_062480 Q92979:p.Asp86Gly SP substitution exon 1 VAR_062481 O95477:p.Pro248Ala SP substitution exon 1 VAR_062482 O95477:p.Glu284Lys SP substitution exon 1 VAR_062483 O95477:p.Ser364Cys SP substitution exon 1 VAR_062484 O95477:p.Lys401Gln SP substitution exon 1 VAR_062485 O95477:p.Tyr482Cys SP substitution exon 1 VAR_062486 O95477:p.Arg496Trp SP substitution exon 1 VAR_062487 O95477:p.Trp590Leu SP substitution exon 1 VAR_062488 O95477:p.Arg638Gln SP substitution exon 1 VAR_062489 O95477:p.Thr774Ser SP substitution exon 1 VAR_062490 O95477:p.Glu815Gly SP substitution exon 1 VAR_062491 O95477:p.Trp840Arg SP substitution exon 1 VAR_062492 O95477:p.Pro1065Ser SP substitution exon 1 VAR_062493 O95477:p.Arg1068Cys SP substitution exon 1 VAR_062494 O95477:p.Gly1216Val SP substitution exon 1 VAR_062495 O95477:p.Arg1341Thr SP substitution exon 1 VAR_062496 O95477:p.Ser1376Gly SP substitution exon 1 VAR_062497 O95477:p.Leu1379Phe SP substitution exon 1 VAR_062498 O95477:p.Arg1615Gln SP substitution exon 1 VAR_062499 O95477:p.Ala1670Thr SP substitution exon 1 VAR_062500 O95477:p.Arg1680Gln SP substitution exon 1 VAR_062501 O95477:p.Val1704Asp SP substitution exon 1 VAR_062502 O95477:p.Arg1851Gln SP substitution exon 1 VAR_062503 O95477:p.Arg1897Trp SP substitution exon 1 VAR_062504 O95477:p.Arg1901Ser SP substitution exon 1 VAR_062505 O95477:p.Arg1925Gln SP substitution exon 1 VAR_062506 O95477:p.Phe2163Ser SP substitution exon 1 VAR_062507 O95477:p.Gln2196His SP substitution exon 1 VAR_062508 O95477:p.Asp2243Glu SP substitution exon 1 VAR_062509 O95477:p.Val2244Ile SP substitution exon 1 VAR_062510 Q9GZT5:p.Arg128Gln SP substitution exon 1 VAR_062511 Q9GZT5:p.Phe228Ile SP substitution exon 1 VAR_062512 O00744:p.His77Tyr SP substitution exon 1 VAR_062513 O00744:p.Cys256Tyr SP substitution exon 1 VAR_062514 O00744:p.Ile285Thr SP substitution exon 1 VAR_062515 O00744:p.Pro301Ser SP substitution exon 1 VAR_062516 O00744:p.Arg332Trp SP substitution exon 1 VAR_062517 Q99062:p.Pro229His SP substitution exon 1 VAR_062518 Q9P2X0:p.Leu85Ser SP substitution exon 1 VAR_062519 O43897:p.Met182Leu SP substitution exon 1 VAR_062520 O43897:p.Val238Ala SP substitution exon 1 VAR_062521 O43897:p.Ile629Val SP substitution exon 1 VAR_062522 P06126:p.Lys22Asn SP substitution exon 1 VAR_062523 Q07699:p.Asp25Asn SP substitution exon 1 VAR_062524 Q07699:p.Glu87Gln SP substitution exon 1 VAR_062525 Q07699:p.Val138Ile SP substitution exon 1 VAR_062526 Q07699:p.Lys208Ile SP substitution exon 1 VAR_062527 Q07699:p.Cys211Tyr SP substitution exon 1 VAR_062528 Q07699:p.Gly213Asp SP substitution exon 1 VAR_062529 Q9NY72:p.Leu10Pro SP substitution exon 1 VAR_062530 O60733:p.Arg741Gln SP substitution exon 1 VAR_062531 O60733:p.Arg747Trp SP substitution exon 1 VAR_062532 P29317:p.Arg721Gln SP substitution exon 1 VAR_062533 P60371:p.Pro300Ser SP substitution exon 1 VAR_062534 O75177:p.Met189Ile SP substitution exon 1 VAR_062535 O14746:p.Leu55Gln SP substitution exon 1 VAR_062536 O14746:p.Lys570Asn SP substitution exon 1 VAR_062537 O14746:p.Gly682Asp SP substitution exon 1 VAR_062538 O14746:p.Pro721Arg SP substitution exon 1 VAR_062539 O14746:p.Thr726Met SP substitution exon 1 VAR_062540 O14746:p.Arg811Cys SP substitution exon 1 VAR_062541 O14746:p.Arg901Trp SP substitution exon 1 VAR_062542 O14746:p.Arg979Trp SP substitution exon 1 VAR_062543 O14746:p.Thr1110Met SP substitution exon 1 VAR_062545 P58012:p.Ile63Thr SP substitution exon 1 VAR_062546 P58012:p.Trp98Arg SP substitution exon 1 VAR_062547 P58012:p.Leu108Pro SP substitution exon 1 VAR_062548 P58012:p.Cys134Trp SP substitution exon 1 VAR_062549 P58012:p.Ser217Cys SP substitution exon 1 VAR_062551 P06280:p.Met42Leu SP substitution exon 1 VAR_062552 P06280:p.Gly43Arg SP substitution exon 1 VAR_062553 P06280:p.His46Pro SP substitution exon 1 VAR_062554 P06280:p.Asp93Asn SP substitution exon 1 VAR_062555 P06280:p.Arg112Ser SP substitution exon 1 VAR_062556 P06280:p.Leu120Val SP substitution exon 1 VAR_062557 P06280:p.Ala135Val SP substitution exon 1 VAR_062558 P06280:p.Gly171Asp SP substitution exon 1 VAR_062559 P06280:p.Ser201Phe SP substitution exon 1 VAR_062560 P06280:p.Ile219Thr SP substitution exon 1 VAR_062561 P06280:p.Asp234Glu SP substitution exon 1 VAR_062562 P06280:p.Asp264Tyr SP substitution exon 1 VAR_062563 P06280:p.Ser276Gly SP substitution exon 1 VAR_062564 P06280:p.Ala285Pro SP substitution exon 1 VAR_062565 P06280:p.Leu300Phe SP substitution exon 1 VAR_062566 P06280:p.Gly328Val SP substitution exon 1 VAR_062567 P06280:p.Glu338Lys SP substitution exon 1 VAR_062568 P06280:p.Arg356Gln SP substitution exon 1 VAR_062569 P06280:p.Glu358Ala SP substitution exon 1 VAR_062570 P06280:p.Gly360Cys SP substitution exon 1 VAR_062571 P06280:p.Leu414Ser SP substitution exon 1 VAR_062572 Q96AA3:p.Lys152Glu SP substitution exon 1 VAR_062573 Q96AA3:p.Glu298Lys SP substitution exon 1 VAR_062574 P50570:p.Gly537Cys SP substitution exon 1 VAR_062575 P50570:p.Leu570His SP substitution exon 1 VAR_062576 P50570:p.Glu650Lys SP substitution exon 1 VAR_062577 P62736:p.Arg39His SP substitution exon 1 VAR_062578 P62736:p.Tyr145Cys SP substitution exon 1 VAR_062579 P62736:p.Arg185Gln SP substitution exon 1 VAR_062580 P62736:p.Arg212Gln SP substitution exon 1 VAR_062581 P62736:p.Thr326Asn SP substitution exon 1 VAR_062582 Q13461:p.Gly49Ala SP substitution exon 1 VAR_062583 Q13461:p.Met82Val SP substitution exon 1 VAR_062584 Q13461:p.Arg90Leu SP substitution exon 1 VAR_062585 P41181:p.Ala70Asp SP substitution exon 1 VAR_062586 P41181:p.Gly100Arg SP substitution exon 1 VAR_062587 P41181:p.Gly180Ser SP substitution exon 1 VAR_062588 P41181:p.Arg187His SP substitution exon 1 VAR_062589 P41181:p.Arg254Leu SP substitution exon 1 VAR_062590 P41181:p.Arg254Gln SP substitution exon 1 VAR_062591 P30518:p.Gly122Asp SP substitution exon 1 VAR_062592 Q15465:p.Leu17Pro SP substitution exon 1 VAR_062593 Q15465:p.Pro26Leu SP substitution exon 1 VAR_062594 Q15465:p.Leu39Pro SP substitution exon 1 VAR_062595 Q15465:p.Glu53Lys SP substitution exon 1 VAR_062596 Q15465:p.Asp83Val SP substitution exon 1 VAR_062597 Q15465:p.Ile84Phe SP substitution exon 1 VAR_062598 Q15465:p.Cys102Arg SP substitution exon 1 VAR_062599 Q15465:p.Cys102Tyr SP substitution exon 1 VAR_062600 Q15465:p.Leu109Phe SP substitution exon 1 VAR_062601 Q15465:p.Ala110Thr SP substitution exon 1 VAR_062602 Q15465:p.Val124Met SP substitution exon 1 VAR_062603 Q15465:p.Glu136Lys SP substitution exon 1 VAR_062604 Q15465:p.Gly143Asp SP substitution exon 1 VAR_062605 Q15465:p.Arg144Pro SP substitution exon 1 VAR_062606 Q15465:p.Asp147Asn SP substitution exon 1 VAR_062607 Q15465:p.Thr150Lys SP substitution exon 1 VAR_062608 Q15465:p.Ser156Arg SP substitution exon 1 VAR_062609 Q15465:p.Phe170Cys SP substitution exon 1 VAR_062610 Q15465:p.Asp171His SP substitution exon 1 VAR_062611 Q15465:p.Cys183Arg SP substitution exon 1 VAR_062612 Q15465:p.Cys183Tyr SP substitution exon 1 VAR_062613 Q15465:p.Ser184Leu SP substitution exon 1 VAR_062615 Q15465:p.Gly196Glu SP substitution exon 1 VAR_062616 Q15465:p.Gly197Val SP substitution exon 1 VAR_062617 Q15465:p.Cys198Phe SP substitution exon 1 VAR_062618 Q15465:p.Cys198Ser SP substitution exon 1 VAR_062619 Q15465:p.Leu218Pro SP substitution exon 1 VAR_062620 Q15465:p.Gly231Val SP substitution exon 1 VAR_062621 Q15465:p.Arg232Gly SP substitution exon 1 VAR_062622 Q15465:p.Leu234Pro SP substitution exon 1 VAR_062623 Q15465:p.Ser236Asn SP substitution exon 1 VAR_062624 Q15465:p.Phe241Leu SP substitution exon 1 VAR_062625 Q15465:p.Phe241Val SP substitution exon 1 VAR_062626 Q15465:p.Ile255Asn SP substitution exon 1 VAR_062627 Q15465:p.Ala275Glu SP substitution exon 1 VAR_062628 Q15465:p.Ser280Trp SP substitution exon 1 VAR_062629 Q15465:p.Gly296Ala SP substitution exon 1 VAR_062630 Q15465:p.Arg310Cys SP substitution exon 1 VAR_062631 Q15465:p.Arg321Ser SP substitution exon 1 VAR_062632 Q15465:p.Ala346Val SP substitution exon 1 VAR_062633 Q15465:p.Pro347Leu SP substitution exon 1 VAR_062634 Q15465:p.Pro347Arg SP substitution exon 1 VAR_062635 Q15465:p.Ser362Leu SP substitution exon 1 VAR_062636 Q15465:p.Cys363Tyr SP substitution exon 1 VAR_062637 Q15465:p.Tyr364Cys SP substitution exon 1 VAR_062638 Q15465:p.His374Arg SP substitution exon 1 VAR_062639 Q15465:p.Ala376Asp SP substitution exon 1 VAR_062649 Q96N76:p.Leu70Pro SP substitution exon 1 VAR_062651 Q6ZUT3:p.Gly24Trp SP substitution exon 1 VAR_062652 Q6ZUT3:p.Arg146Trp SP substitution exon 1 VAR_062653 Q6ZUT3:p.Trp225Gly SP substitution exon 1 VAR_062654 Q6ZUT3:p.Arg229Cys SP substitution exon 1 VAR_062655 Q6ZUT3:p.Arg229Gly SP substitution exon 1 VAR_062656 Q6ZUT3:p.Arg261Gly SP substitution exon 1 VAR_062657 Q6ZUT3:p.Arg261Gln SP substitution exon 1 VAR_062658 Q6ZUT3:p.Cys271Phe SP substitution exon 1 VAR_062659 Q6ZUT3:p.His275Pro SP substitution exon 1 VAR_062660 Q6ZUT3:p.Gly296Arg SP substitution exon 1 VAR_062662 Q2M3G0:p.Ala435Thr SP substitution exon 1 VAR_062663 Q86UK0:p.Ala476Val SP substitution exon 1 VAR_062664 Q9UBJ2:p.Gln244Lys SP substitution exon 1 VAR_062665 Q6H8Q1:p.Gly227Arg SP substitution exon 1 VAR_062666 Q6H8Q1:p.Lys274Met SP substitution exon 1 VAR_062667 O00763:p.Arg193Leu SP substitution exon 1 VAR_062668 Q9Y305:p.Asn305His SP substitution exon 1 VAR_062669 O75078:p.Ser693Arg SP substitution exon 1 VAR_062671 Q9UN79:p.Pro532Ser SP substitution exon 1 VAR_062674 Q9Y397:p.Arg148Trp SP substitution exon 1 VAR_062675 Q9Y397:p.Pro150Ser SP substitution exon 1 VAR_062676 A6ND91:p.Gln266Arg SP substitution exon 1 VAR_062677 Q01629:p.Val33Ala SP substitution exon 1 VAR_062678 Q02747:p.Ser7Phe SP substitution exon 1 VAR_062758 Q13509:p.Arg62Gln SP substitution exon 1 VAR_062759 Q13509:p.Arg262Cys SP substitution exon 1 VAR_062760 Q13509:p.Arg262His SP substitution exon 1 VAR_062761 Q13509:p.Ala302Thr SP substitution exon 1 VAR_062766 Q6GPI1:p.Ala250Thr SP substitution exon 1 VAR_062767 Q13148:p.Gln343Arg SP substitution exon 1 VAR_062768 Q9Y5X4:p.Ser44Leu SP substitution exon 1 VAR_062769 Q9Y5X4:p.Arg104Gln SP substitution exon 1 VAR_062770 Q9Y5X4:p.Gly287Ser SP substitution exon 1 VAR_062771 Q9Y5X4:p.Lys324Arg SP substitution exon 1 VAR_062772 Q9Y5X4:p.Arg334Gly SP substitution exon 1 VAR_062773 Q9BXM7:p.Cys125Gly SP substitution exon 1 VAR_062774 Q9BXM7:p.Ala280Thr SP substitution exon 1 VAR_062775 Q9BXM7:p.Leu369Pro SP substitution exon 1 VAR_062776 Q9BXM7:p.Gly386Ala SP substitution exon 1 VAR_062777 Q9BXM7:p.Pro399Leu SP substitution exon 1 VAR_062778 Q9BXM7:p.Arg407Gln SP substitution exon 1 VAR_062779 Q9BXM7:p.Gly409Val SP substitution exon 1 VAR_062780 O14746:p.Pro65Ala SP substitution exon 1 VAR_062781 O14746:p.Val299Met SP substitution exon 1 VAR_062782 O14746:p.Arg522Lys SP substitution exon 1 VAR_062783 O14746:p.Arg631Gln SP substitution exon 1 VAR_062784 O14746:p.Pro785Leu SP substitution exon 1 VAR_062786 Q14683:p.Phe133Val SP substitution exon 1 VAR_062787 Q14683:p.Glu141Lys SP substitution exon 1 VAR_062788 Q14683:p.Arg196His SP substitution exon 1 VAR_062791 Q14683:p.Arg398Gln SP substitution exon 1 VAR_062792 Q14683:p.Arg496Cys SP substitution exon 1 VAR_062793 Q14683:p.Arg496His SP substitution exon 1 VAR_062795 Q14683:p.Arg693Gly SP substitution exon 1 VAR_062796 Q14683:p.Arg711Trp SP substitution exon 1 VAR_062797 Q14683:p.Cys781Phe SP substitution exon 1 VAR_062798 Q14683:p.Arg790Gln SP substitution exon 1 VAR_062799 Q14683:p.Arg816Gly SP substitution exon 1 VAR_062800 Q14683:p.Arg1049Gln SP substitution exon 1 VAR_062801 Q14683:p.Tyr1085Cys SP substitution exon 1 VAR_062802 Q14683:p.Phe1122Leu SP substitution exon 1 VAR_062803 Q14683:p.Arg1123Trp SP substitution exon 1 VAR_062804 Q9P2K1:p.Pro721Ser SP substitution exon 1 VAR_062805 Q9P2K1:p.Lys800Glu SP substitution exon 1 VAR_062806 Q9P2K1:p.Asp1556Val SP substitution exon 1 VAR_062807 Q3T906:p.Phe374Leu SP substitution exon 1 VAR_062808 Q3T906:p.Ser399Phe SP substitution exon 1 VAR_062809 Q3T906:p.Ile403Thr SP substitution exon 1 VAR_062810 Q3T906:p.Cys442Tyr SP substitution exon 1 VAR_062811 Q3T906:p.Cys461Gly SP substitution exon 1 VAR_062812 Q3T906:p.Gln926Pro SP substitution exon 1 VAR_062813 Q3T906:p.His956Tyr SP substitution exon 1 VAR_062814 Q3T906:p.Leu1001Pro SP substitution exon 1 VAR_062815 Q3T906:p.Asn1153Ser SP substitution exon 1 VAR_062816 Q10567:p.Thr777Ala SP substitution exon 1 VAR_062817 P54257:p.Phe560Leu SP substitution exon 1 VAR_062850 Q14112:p.Pro22Gln SP substitution exon 1 VAR_062851 Q14112:p.Gly453Asp SP substitution exon 1 VAR_062852 Q14112:p.Ser656Pro SP substitution exon 1 VAR_062853 Q14112:p.Gly760Val SP substitution exon 1 VAR_062854 O14843:p.Gln44Arg SP substitution exon 1 VAR_062855 O14843:p.Arg45Cys SP substitution exon 1 VAR_062856 O14843:p.Arg174Trp SP substitution exon 1 VAR_062857 O14843:p.Leu227Val SP substitution exon 1 VAR_062858 O14843:p.Ala256Val SP substitution exon 1 VAR_062860 O15529:p.Arg44Gln SP substitution exon 1 VAR_062861 O15529:p.Trp174Arg SP substitution exon 1 VAR_062862 O15529:p.Asn346Ser SP substitution exon 1 VAR_062863 Q17RC7:p.Gln685Glu SP substitution exon 1 VAR_062864 Q13322:p.Pro95Ser SP substitution exon 1 VAR_062865 Q17RW2:p.Ala61Val SP substitution exon 1 VAR_062954 Q07444:p.Ser2Asn SP substitution exon 1 VAR_062955 Q07444:p.His113Pro SP substitution exon 1 VAR_062956 Q07444:p.Cys155Ser SP substitution exon 1 VAR_062957 C9JDV5:p.Leu131Phe SP substitution exon 1 VAR_062958 Q13576:p.Asp527Glu SP substitution exon 1 VAR_062959 Q13576:p.Leu629Phe SP substitution exon 1 VAR_062960 Q13576:p.Ile724Val SP substitution exon 1 VAR_062962 O14843:p.Ser346Asn SP substitution exon 1 VAR_062963 P45985:p.Ser16Arg SP substitution exon 1 VAR_062964 Q6ZW61:p.Ile346Thr SP substitution exon 1 VAR_062965 Q6ZW61:p.Thr501Met SP substitution exon 1 VAR_062966 Q16134:p.Thr31Ile SP substitution exon 1 VAR_062967 Q13285:p.Gly123Ala SP substitution exon 1 VAR_062968 Q13285:p.Pro129Leu SP substitution exon 1 VAR_062970 Q13285:p.Asp293Asn SP substitution exon 1 VAR_062971 Q16204:p.Pro470Thr SP substitution exon 1 VAR_062972 O60281:p.Ile1740Val SP substitution exon 1 VAR_062973 O60281:p.Val2045Ile SP substitution exon 1 VAR_062974 Q8NF91:p.Arg8095His SP substitution exon 1 VAR_062975 Q8NF91:p.Val8387Leu SP substitution exon 1 VAR_062976 Q8NF91:p.Glu8461Lys SP substitution exon 1 VAR_062977 Q8WXH0:p.Thr6211Met SP substitution exon 1 VAR_062978 Q8HWS3:p.Arg181Gln SP substitution exon 1 VAR_062979 Q8HWS3:p.Ser217Pro SP substitution exon 1 VAR_062980 Q8WVQ1:p.Pro299Leu SP substitution exon 1 VAR_062981 Q8WVQ1:p.Arg300Cys SP substitution exon 1 VAR_062982 Q8WVQ1:p.Arg300His SP substitution exon 1 VAR_062983 P08247:p.Leu2Gln SP substitution exon 1 VAR_062984 P08247:p.Ser158Leu SP substitution exon 1 VAR_062985 P08247:p.Asp166Asn SP substitution exon 1 VAR_062990 Q9Y462:p.Gly139Glu SP substitution exon 1 VAR_062991 Q9Y462:p.Thr221Ala SP substitution exon 1 VAR_062992 Q9Y462:p.His274Arg SP substitution exon 1 VAR_062993 Q9Y462:p.Met524Thr SP substitution exon 1 VAR_062994 Q9Y462:p.Asn601Ser SP substitution exon 1 VAR_062995 Q9Y462:p.Glu622Asp SP substitution exon 1 VAR_062996 O14936:p.Tyr268His SP substitution exon 1 VAR_062997 O14936:p.Pro396Ser SP substitution exon 1 VAR_062998 O14936:p.Asp710Gly SP substitution exon 1 VAR_062999 P00740:p.Arg384Leu SP substitution exon 1 VAR_063000 P04196:p.Gly103Glu SP substitution exon 1 VAR_063001 P04196:p.Cys241Arg SP substitution exon 1 VAR_063009 Q0ZGT2:p.Pro611Thr SP substitution exon 1 VAR_063011 Q0ZGT2:p.Tyr652Cys SP substitution exon 1 VAR_063012 Q9NRR6:p.Arg378Cys SP substitution exon 1 VAR_063013 Q9NRR6:p.Arg435Gln SP substitution exon 1 VAR_063014 Q9NRR6:p.Arg512Trp SP substitution exon 1 VAR_063015 Q9NRR6:p.Arg515Trp SP substitution exon 1 VAR_063016 Q9NRR6:p.Arg563His SP substitution exon 1 VAR_063017 Q9NRR6:p.Lys580Glu SP substitution exon 1 VAR_063018 P10619:p.Ser51Tyr SP substitution exon 1 VAR_063019 P10619:p.Val132Met SP substitution exon 1 VAR_063020 P10619:p.Leu236Pro SP substitution exon 1 VAR_063021 P10619:p.Met406Thr SP substitution exon 1 VAR_063022 P10619:p.Gly439Ser SP substitution exon 1 VAR_063023 P10619:p.Lys453Glu SP substitution exon 1 VAR_063024 Q6KF10:p.Gly42Val SP substitution exon 1 VAR_063025 Q6KF10:p.Gln119Arg SP substitution exon 1 VAR_063026 Q6KF10:p.Asp216Gly SP substitution exon 1 VAR_063027 Q6KF10:p.Gln253Leu SP substitution exon 1 VAR_063028 Q6KF10:p.Pro327His SP substitution exon 1 VAR_063029 Q6KF10:p.Lys424Arg SP substitution exon 1 VAR_063030 Q9BZP6:p.Asn45Asp SP substitution exon 1 VAR_063031 Q9BZP6:p.Asp47Asn SP substitution exon 1 VAR_063032 Q9BZP6:p.Arg61Met SP substitution exon 1 VAR_063033 Q9BZP6:p.Lys125Arg SP substitution exon 1 VAR_063034 P01266:p.Cys183Tyr SP substitution exon 1 VAR_063039 Q9UJM3:p.Asp109Asn SP substitution exon 1 VAR_063040 Q04637:p.Met432Val SP substitution exon 1 VAR_063049 O95340:p.Thr48Arg SP substitution exon 1 VAR_063050 Q16832:p.Thr713Ile SP substitution exon 1 VAR_063051 Q16832:p.Ile726Arg SP substitution exon 1 VAR_063052 Q16832:p.Arg752Cys SP substitution exon 1 VAR_063054 O43462:p.Met87Ile SP substitution exon 1 VAR_063055 O43462:p.Trp226Leu SP substitution exon 1 VAR_063056 O43462:p.His227Leu SP substitution exon 1 VAR_063057 O43462:p.Arg429His SP substitution exon 1 VAR_063058 O43462:p.Phe475Ser SP substitution exon 1 VAR_063059 P78508:p.Arg65Pro SP substitution exon 1 VAR_063060 P78508:p.Gly77Arg SP substitution exon 1 VAR_063061 P78508:p.Cys140Arg SP substitution exon 1 VAR_063062 P78508:p.Thr164Ile SP substitution exon 1 VAR_063063 P78508:p.Ala167Val SP substitution exon 1 VAR_063064 P78508:p.Arg297Cys SP substitution exon 1 VAR_063065 Q99062:p.Thr640Asn SP substitution exon 1 VAR_063066 P04062:p.Lys46Glu SP substitution exon 1 VAR_063069 P20823:p.Arg200Trp SP substitution exon 1 VAR_063070 P63316:p.Ala8Val SP substitution exon 1 VAR_063071 P63316:p.Cys84Tyr SP substitution exon 1 VAR_063072 P63316:p.Glu134Asp SP substitution exon 1 VAR_063073 P63316:p.Asp145Glu SP substitution exon 1 VAR_063074 P51800:p.Trp80Cys SP substitution exon 1 VAR_063075 Q27J81:p.Ala13Thr SP substitution exon 1 VAR_063076 Q27J81:p.Leu42Pro SP substitution exon 1 VAR_063077 Q27J81:p.Glu184Lys SP substitution exon 1 VAR_063078 Q27J81:p.Ser186Pro SP substitution exon 1 VAR_063079 Q27J81:p.Leu198Arg SP substitution exon 1 VAR_063080 Q27J81:p.Arg214His SP substitution exon 1 VAR_063081 Q27J81:p.Arg218Gln SP substitution exon 1 VAR_063082 Q27J81:p.Arg218Trp SP substitution exon 1 VAR_063083 Q27J81:p.Glu220Lys SP substitution exon 1 VAR_063084 P01111:p.Gly13Asp SP substitution exon 1 VAR_063085 P01111:p.Thr50Ile SP substitution exon 1 VAR_063086 P01111:p.Gly60Glu SP substitution exon 1 VAR_063087 Q9NPB3:p.Arg94Gln SP substitution exon 1 VAR_063088 Q8IZP1:p.Pro526Gln SP substitution exon 1 VAR_063089 O95817:p.Pro209Leu SP substitution exon 1 VAR_063090 Q6P461:p.Glu19Gly SP substitution exon 1 VAR_063091 Q6P461:p.Cys40Ser SP substitution exon 1 VAR_063092 Q5T481:p.Arg634Gln SP substitution exon 1 VAR_063093 Q5T481:p.Arg636His SP substitution exon 1 VAR_063094 Q5T481:p.Arg636Ser SP substitution exon 1 VAR_063095 Q5T481:p.Ser637Gly SP substitution exon 1 VAR_063096 Q5T481:p.Pro638Leu SP substitution exon 1 VAR_063098 Q8NEP3:p.Leu175Arg SP substitution exon 1 VAR_063100 Q9NZR4:p.Gln175His SP substitution exon 1 VAR_063101 Q96HR8:p.Ile162Val SP substitution exon 1 VAR_063102 Q8TD33:p.Ile70Arg SP substitution exon 1 VAR_063103 Q6ZWJ1:p.Gly92Arg SP substitution exon 1 VAR_063105 Q9ULV3:p.Glu370Gly SP substitution exon 1 VAR_063107 P48544:p.Gln282Glu SP substitution exon 1 VAR_063108 Q99959:p.Leu366Pro SP substitution exon 1 VAR_063110 Q9Y2C9:p.Ser249Pro SP substitution exon 1 VAR_063111 Q9UL46:p.His89Pro SP substitution exon 1 VAR_063112 Q5T5S1:p.Asn421Thr SP substitution exon 1 VAR_063113 Q9Y4X1:p.Arg75Lys SP substitution exon 1 VAR_063114 Q9Y5P1:p.Cys120Arg SP substitution exon 1 VAR_063115 Q9Y5P1:p.Leu134Phe SP substitution exon 1 VAR_063116 Q9Y5P1:p.Cys209Ser SP substitution exon 1 VAR_063117 Q9Y5P1:p.Ser312Arg SP substitution exon 1 VAR_063118 Q5VZ46:p.Leu64Pro SP substitution exon 1 VAR_063120 Q01118:p.Thr41Asn SP substitution exon 1 VAR_063121 Q01118:p.Met958Ile SP substitution exon 1 VAR_063122 Q96ST8:p.Arg194Trp SP substitution exon 1 VAR_063123 Q96ST8:p.Val398Ala SP substitution exon 1 VAR_063124 Q9H3R2:p.Ile99Thr SP substitution exon 1 VAR_063126 Q9NVC6:p.Glu69Asp SP substitution exon 1 VAR_063127 Q8IZL2:p.Pro896Thr SP substitution exon 1 VAR_063128 Q9Y5U2:p.His274Pro SP substitution exon 1 VAR_063129 Q9UFP1:p.His227Tyr SP substitution exon 1 VAR_063130 Q9UFP1:p.Gln460Arg SP substitution exon 1 VAR_063131 Q9Y5Y4:p.Val204Ala SP substitution exon 1 VAR_063132 Q07444:p.Trp19Arg SP substitution exon 1 VAR_063133 Q07444:p.Ala106Thr SP substitution exon 1 VAR_063134 Q96LL4:p.Ser28Phe SP substitution exon 1 VAR_063135 Q96LL4:p.Leu285Met SP substitution exon 1 VAR_063136 Q7Z2K8:p.Pro121Thr SP substitution exon 1 VAR_063137 Q7Z2K8:p.Met300Val SP substitution exon 1 VAR_063138 Q7Z3Y8:p.Ser52Thr SP substitution exon 1 VAR_063139 Q7Z3Y8:p.Glu144Lys SP substitution exon 1 VAR_063140 Q7Z3Y8:p.Ile305Thr SP substitution exon 1 VAR_063141 Q9ULV0:p.Thr126Ala SP substitution exon 1 VAR_063144 Q9ULS5:p.Tyr16Asp SP substitution exon 1 VAR_063145 Q9ULS5:p.Pro232Gln SP substitution exon 1 VAR_063146 Q9H6X2:p.Ala326Thr SP substitution exon 1 VAR_063147 P35968:p.Pro1147Ser SP substitution exon 1 VAR_063148 Q92743:p.Ala252Thr SP substitution exon 1 VAR_063149 Q92743:p.Val297Met SP substitution exon 1 VAR_063150 Q9UPY3:p.Leu1583Arg SP substitution exon 1 VAR_063151 B6A8C7:p.Ser37Pro SP substitution exon 1 VAR_063152 B6A8C7:p.Arg111His SP substitution exon 1 VAR_063153 B6A8C7:p.Arg258Trp SP substitution exon 1 VAR_063154 C9JXX5:p.Gln80His SP substitution exon 1 VAR_063155 B2RXH4:p.Ser302Thr SP substitution exon 1 VAR_063156 B2RXH4:p.Glu352Gly SP substitution exon 1 VAR_063157 C9JJ37:p.Glu110Gly SP substitution exon 1 VAR_063159 A8MXD5:p.Glu9Lys SP substitution exon 1 VAR_063160 A8MXD5:p.Pro38Leu SP substitution exon 1 VAR_063161 A8MXD5:p.Gly51Glu SP substitution exon 1 VAR_063162 A8MXD5:p.Gly64Ser SP substitution exon 1 VAR_063163 A8MXD5:p.Gly91Val SP substitution exon 1 VAR_063164 A8MXD5:p.Arg138Cys SP substitution exon 1 VAR_063165 A8MXD5:p.Phe153Val SP substitution exon 1 VAR_063169 O76090:p.Leu140Val SP substitution exon 1 VAR_063170 O76090:p.Ile205Thr SP substitution exon 1 VAR_063171 O76090:p.Asp228Asn SP substitution exon 1 VAR_063172 Q5T442:p.Ile36Met SP substitution exon 1 VAR_063173 Q7Z4N2:p.Arg6Trp SP substitution exon 1 VAR_063174 Q7Z4N2:p.Tyr56Cys SP substitution exon 1 VAR_063175 Q7Z4N2:p.Tyr72Cys SP substitution exon 1 VAR_063176 Q7Z4N2:p.Arg74Cys SP substitution exon 1 VAR_063177 Q7Z4N2:p.Leu99Pro SP substitution exon 1 VAR_063178 Q7Z4N2:p.Leu364Arg SP substitution exon 1 VAR_063179 Q7Z4N2:p.Pro399Thr SP substitution exon 1 VAR_063180 Q7Z4N2:p.Arg473Pro SP substitution exon 1 VAR_063181 Q7Z4N2:p.Gly534Arg SP substitution exon 1 VAR_063182 Q7Z4N2:p.Met541Lys SP substitution exon 1 VAR_063183 Q7Z4N2:p.Pro611His SP substitution exon 1 VAR_063184 Q7Z4N2:p.Arg721Gln SP substitution exon 1 VAR_063185 Q7Z4N2:p.Glu883Gly SP substitution exon 1 VAR_063186 Q7Z4N2:p.Met962Thr SP substitution exon 1 VAR_063187 Q7Z4N2:p.Ile1002Phe SP substitution exon 1 VAR_063188 Q7Z4N2:p.Gln1161His SP substitution exon 1 VAR_063189 Q7Z4N2:p.Pro1379Thr SP substitution exon 1 VAR_063190 Q7Z4N2:p.Arg1422Trp SP substitution exon 1 VAR_063191 Q7Z4N2:p.Arg1438Gly SP substitution exon 1 VAR_063192 Q6P1M0:p.Ala92Thr SP substitution exon 1 VAR_063193 Q6P1M0:p.Ser247Pro SP substitution exon 1 VAR_063194 Q6P1M0:p.Gln300Arg SP substitution exon 1 VAR_063195 Q6P1M0:p.Arg583His SP substitution exon 1 VAR_063196 P34130:p.Cys7Tyr SP substitution exon 1 VAR_063197 P34130:p.Glu84Lys SP substitution exon 1 VAR_063198 P34130:p.Ala88Val SP substitution exon 1 VAR_063199 P34130:p.Ser89Asn SP substitution exon 1 VAR_063200 P34130:p.Arg90Cys SP substitution exon 1 VAR_063201 P34130:p.Arg90His SP substitution exon 1 VAR_063202 P34130:p.Arg114Gly SP substitution exon 1 VAR_063203 P34130:p.Arg133His SP substitution exon 1 VAR_063204 P34130:p.Arg140Cys SP substitution exon 1 VAR_063205 P34130:p.Arg206Gln SP substitution exon 1 VAR_063206 P34130:p.Arg206Trp SP substitution exon 1 VAR_063207 P34130:p.Thr207Ile SP substitution exon 1 VAR_063208 P34130:p.Thr207Ser SP substitution exon 1 VAR_063209 P34130:p.Arg209Gly SP substitution exon 1 VAR_063210 Q96S07:p.Thr92Ser SP substitution exon 1 VAR_063211 Q96S07:p.Pro249Leu SP substitution exon 1 VAR_063213 P01024:p.Arg592Gln SP substitution exon 1 VAR_063214 P01024:p.Arg592Trp SP substitution exon 1 VAR_063215 P01024:p.Arg735Trp SP substitution exon 1 VAR_063216 P01024:p.Ala1094Val SP substitution exon 1 VAR_063217 P01024:p.Asp1115Asn SP substitution exon 1 VAR_063218 P01024:p.Cys1158Trp SP substitution exon 1 VAR_063219 P01024:p.Gln1161Lys SP substitution exon 1 VAR_063220 P01024:p.His1464Asp SP substitution exon 1 VAR_063223 P07204:p.Asp53Gly SP substitution exon 1 VAR_063224 P07204:p.Val81Leu SP substitution exon 1 VAR_063226 O95076:p.Leu168Val SP substitution exon 1 VAR_063227 O95076:p.Arg183Trp SP substitution exon 1 VAR_063228 O95076:p.Arg196Trp SP substitution exon 1 VAR_063229 O95076:p.Asn203Ser SP substitution exon 1 VAR_063230 Q9UBX0:p.Gln6His SP substitution exon 1 VAR_063231 Q9UBX0:p.Ile26Thr SP substitution exon 1 VAR_063232 Q9UBX0:p.Glu149Lys SP substitution exon 1 VAR_063233 Q9UBX0:p.Ser170Leu SP substitution exon 1 VAR_063234 Q9UBX0:p.Thr181Ala SP substitution exon 1 VAR_063235 O75360:p.Phe88Ser SP substitution exon 1 VAR_063236 O75360:p.Arg99Gln SP substitution exon 1 VAR_063237 P21583:p.Asn36Ser SP substitution exon 1 VAR_063238 P21583:p.Asp210Tyr SP substitution exon 1 VAR_063239 O15178:p.Val358Ile SP substitution exon 1 VAR_063240 Q9UBR4:p.Ala210Val SP substitution exon 1 VAR_063241 Q969G2:p.Pro389Thr SP substitution exon 1 VAR_063242 Q8NCM8:p.Phe209Ile SP substitution exon 1 VAR_063243 Q8NCM8:p.Arg587Cys SP substitution exon 1 VAR_063244 Q8NCM8:p.Ile1240Thr SP substitution exon 1 VAR_063245 Q8NCM8:p.Gln1537Arg SP substitution exon 1 VAR_063246 Q8NCM8:p.Thr1987Ala SP substitution exon 1 VAR_063247 Q8NCM8:p.Met1991Leu SP substitution exon 1 VAR_063248 Q8NCM8:p.Arg2205His SP substitution exon 1 VAR_063249 Q8NCM8:p.Gly2461Val SP substitution exon 1 VAR_063250 Q8NCM8:p.Asp3015Gly SP substitution exon 1 VAR_063251 Q8NCM8:p.Leu3762Val SP substitution exon 1 VAR_063252 Q9C0B1:p.Arg316Gln SP substitution exon 1 VAR_063253 O75746:p.Gln590Arg SP substitution exon 1 VAR_063254 P31371:p.Ser99Asn SP substitution exon 1 VAR_063255 Q13285:p.Val15Met SP substitution exon 1 VAR_063256 Q13285:p.Met78Ile SP substitution exon 1 VAR_063257 Q13285:p.Gly91Ser SP substitution exon 1 VAR_063258 Q13285:p.Leu437Gln SP substitution exon 1 VAR_063259 Q9C0J9:p.Pro384Arg SP substitution exon 1 VAR_063260 Q6NT16:p.Ser30Pro SP substitution exon 1 VAR_063261 B7Z6K7:p.Met83Val SP substitution exon 1 VAR_063262 B7ZBB8:p.Pro280Gln SP substitution exon 1 VAR_063265 P51810:p.Gly81Val SP substitution exon 1 VAR_063266 P51810:p.Ser89Phe SP substitution exon 1 VAR_063267 P51810:p.Cys116Gly SP substitution exon 1 VAR_063268 P51810:p.Cys116Trp SP substitution exon 1 VAR_063269 P51810:p.Trp132Arg SP substitution exon 1 VAR_063270 P51810:p.Leu134Pro SP substitution exon 1 VAR_063271 P51810:p.Thr166Asn SP substitution exon 1 VAR_063272 P51810:p.Glu185Lys SP substitution exon 1 VAR_063273 P51810:p.Arg186Pro SP substitution exon 1 VAR_063274 P51810:p.Arg186Trp SP substitution exon 1 VAR_063278 A6NCS4:p.Phe151Leu SP substitution exon 1 VAR_063279 P0CG23:p.Gly8Arg SP substitution exon 1 VAR_063280 P0CG23:p.Gln30Arg SP substitution exon 1 VAR_063281 P0CG23:p.Gln212Glu SP substitution exon 1 VAR_063282 Q86VR7:p.Asn3Thr SP substitution exon 1 VAR_063283 Q86VR7:p.Met356Ile SP substitution exon 1 VAR_063284 Q86VR7:p.Arg592Gln SP substitution exon 1 VAR_063285 Q86VR7:p.Arg627His SP substitution exon 1 VAR_063286 B7U540:p.Thr140Met SP substitution exon 1 VAR_063287 B7U540:p.Arg205His SP substitution exon 1 VAR_063288 B7U540:p.Thr354Met SP substitution exon 1 VAR_063289 B7U540:p.Lys366Arg SP substitution exon 1 VAR_063290 P02452:p.Gly22Arg SP substitution exon 1 VAR_063291 P02452:p.Pro146Thr SP substitution exon 1 VAR_063292 P02452:p.Gly194Arg SP substitution exon 1 VAR_063293 P02452:p.Gly197Arg SP substitution exon 1 VAR_063294 P02452:p.Gly200Val SP substitution exon 1 VAR_063295 P02452:p.Gly203Val SP substitution exon 1 VAR_063296 P02452:p.Gly242Asp SP substitution exon 1 VAR_063297 P02452:p.Gly257Arg SP substitution exon 1 VAR_063298 P02452:p.Gly266Glu SP substitution exon 1 VAR_063299 P02452:p.Gly287Ser SP substitution exon 1 VAR_063300 P02452:p.Glu288Lys SP substitution exon 1 VAR_063301 P02452:p.Glu288Val SP substitution exon 1 VAR_063302 P02452:p.Gly320Val SP substitution exon 1 VAR_063303 P02452:p.Gly338Cys SP substitution exon 1 VAR_063304 P02452:p.Val349Phe SP substitution exon 1 VAR_063305 P02452:p.Gly353Asp SP substitution exon 1 VAR_063306 P02452:p.Gly353Ser SP substitution exon 1 VAR_063307 P02452:p.Gly368Val SP substitution exon 1 VAR_063308 P02452:p.Ala390Thr SP substitution exon 1 VAR_063309 P02452:p.Gly455Asp SP substitution exon 1 VAR_063310 P02452:p.Gly470Val SP substitution exon 1 VAR_063311 P02452:p.Gly509Val SP substitution exon 1 VAR_063312 P02452:p.Gly548Ala SP substitution exon 1 VAR_063313 P02452:p.Pro555Arg SP substitution exon 1 VAR_063314 P02452:p.Arg574Cys SP substitution exon 1 VAR_063315 P02452:p.Gly581Arg SP substitution exon 1 VAR_063316 P02452:p.Gly602Arg SP substitution exon 1 VAR_063317 P02452:p.Gly605Asp SP substitution exon 1 VAR_063318 P02452:p.Gly614Arg SP substitution exon 1 VAR_063319 P02452:p.Gly647Ser SP substitution exon 1 VAR_063320 P02452:p.Gly683Ser SP substitution exon 1 VAR_063321 P02452:p.Gly722Ser SP substitution exon 1 VAR_063322 P02452:p.Gly734Val SP substitution exon 1 VAR_063323 P02452:p.Gly740Arg SP substitution exon 1 VAR_063324 P02452:p.Gly824Arg SP substitution exon 1 VAR_063325 P02452:p.Gly833Asp SP substitution exon 1 VAR_063326 P02452:p.Asn855His SP substitution exon 1 VAR_063327 P02452:p.Gly875Ser SP substitution exon 1 VAR_063328 P02452:p.Gly896Asp SP substitution exon 1 VAR_063329 P02452:p.Gly906Ser SP substitution exon 1 VAR_063330 P02452:p.Gly947Cys SP substitution exon 1 VAR_063331 P02452:p.Gly977Asp SP substitution exon 1 VAR_063332 P02452:p.Gly1001Cys SP substitution exon 1 VAR_063334 P02452:p.Gly1055Asp SP substitution exon 1 VAR_063335 P02452:p.Arg1066Cys SP substitution exon 1 VAR_063336 P02452:p.Arg1093Cys SP substitution exon 1 VAR_063337 P02452:p.Gly1094Ser SP substitution exon 1 VAR_063338 P02452:p.Gly1157Asp SP substitution exon 1 VAR_063339 P02452:p.Asp1219Glu SP substitution exon 1 VAR_063340 P02452:p.Arg1356His SP substitution exon 1 VAR_063341 P02452:p.Asp1413Asn SP substitution exon 1 VAR_063342 P02452:p.Gly848Arg SP substitution exon 1 VAR_063343 P08123:p.Gly193Ser SP substitution exon 1 VAR_063344 P08123:p.Gly202Arg SP substitution exon 1 VAR_063345 P08123:p.Arg234Cys SP substitution exon 1 VAR_063346 P08123:p.Gly247Arg SP substitution exon 1 VAR_063347 P08123:p.Gly253Asp SP substitution exon 1 VAR_063348 P08123:p.Gly256Val SP substitution exon 1 VAR_063349 P08123:p.Gly283Arg SP substitution exon 1 VAR_063350 P08123:p.Gly319Arg SP substitution exon 1 VAR_063351 P08123:p.Gly325Glu SP substitution exon 1 VAR_063352 P08123:p.Gly358Ser SP substitution exon 1 VAR_063353 P08123:p.Gly397Glu SP substitution exon 1 VAR_063354 P08123:p.Gly454Cys SP substitution exon 1 VAR_063355 P08123:p.Gly457Leu SP substitution exon 1 VAR_063357 P08123:p.Gly526Glu SP substitution exon 1 VAR_063358 P08123:p.Gly562Val SP substitution exon 1 VAR_063359 P08123:p.Gly601Ser SP substitution exon 1 VAR_063360 P08123:p.Gly625Asp SP substitution exon 1 VAR_063361 P08123:p.Gly676Asp SP substitution exon 1 VAR_063363 P08123:p.Gly733Cys SP substitution exon 1 VAR_063364 P08123:p.Gly739Arg SP substitution exon 1 VAR_063365 P08123:p.Gly748Val SP substitution exon 1 VAR_063366 P08123:p.Gly754Cys SP substitution exon 1 VAR_063370 P08123:p.Gly820Ser SP substitution exon 1 VAR_063371 P08123:p.Gly835Cys SP substitution exon 1 VAR_063372 P08123:p.Gly856Arg SP substitution exon 1 VAR_063373 P08123:p.Gly856Val SP substitution exon 1 VAR_063374 P08123:p.Gly955Asp SP substitution exon 1 VAR_063375 P08123:p.Gly982Asp SP substitution exon 1 VAR_063377 P08123:p.Gly991Val SP substitution exon 1 VAR_063378 P08123:p.Gly1003Asp SP substitution exon 1 VAR_063379 P08123:p.Gly1027Glu SP substitution exon 1 VAR_063381 P08123:p.Gly1087Asp SP substitution exon 1 VAR_063383 P08123:p.Cys1195Tyr SP substitution exon 1 VAR_063384 P01106:p.Glu39Asp SP substitution exon 1 VAR_063385 P01106:p.Pro57Ser SP substitution exon 1 VAR_063386 P01106:p.Pro59Ala SP substitution exon 1 VAR_063387 P01106:p.Asn86Thr SP substitution exon 1 VAR_063388 Q9P0N5:p.Arg73Leu SP substitution exon 1 VAR_063389 Q9BVA1:p.Ser172Pro SP substitution exon 1 VAR_063390 Q9BVA1:p.Cys201Ser SP substitution exon 1 VAR_063391 Q9BVA1:p.Ile210Thr SP substitution exon 1 VAR_063392 Q9BVA1:p.Leu228Pro SP substitution exon 1 VAR_063393 Q9BVA1:p.Phe265Leu SP substitution exon 1 VAR_063394 Q9BVA1:p.Thr312Met SP substitution exon 1 VAR_063395 A6NGG8:p.Ile201Phe SP substitution exon 1 VAR_063396 A6NGG8:p.Pro867Leu SP substitution exon 1 VAR_063397 Q9BXS4:p.Ala46Val SP substitution exon 1 VAR_063399 A8MZ36:p.Ser4Asn SP substitution exon 1 VAR_063400 Q9NZQ3:p.Tyr660Ser SP substitution exon 1 VAR_063401 C9JDP6:p.His219Tyr SP substitution exon 1 VAR_063402 B2RXH2:p.Ala26Thr SP substitution exon 1 VAR_063403 B2RXH2:p.Gln42Arg SP substitution exon 1 VAR_063404 B2RXH2:p.Gln113Arg SP substitution exon 1 VAR_063405 B2RXH2:p.Phe258Ser SP substitution exon 1 VAR_063406 Q9Y2I7:p.Ser696Asn SP substitution exon 1 VAR_063407 Q9Y2I7:p.Leu932Ser SP substitution exon 1 VAR_063408 Q9Y2I7:p.Gln995Leu SP substitution exon 1 VAR_063409 Q9Y2I7:p.Thr998Ser SP substitution exon 1 VAR_063410 Q9Y2I7:p.Gln1183Lys SP substitution exon 1 VAR_063411 Q9H4B7:p.Arg318Trp SP substitution exon 1 VAR_063412 O75197:p.Met282Val SP substitution exon 1 VAR_063414 Q9BXU7:p.Leu165Ser SP substitution exon 1 VAR_063415 Q9BXU7:p.Leu364Phe SP substitution exon 1 VAR_063416 Q9BXU7:p.His475Tyr SP substitution exon 1 VAR_063417 Q9BXU7:p.Leu517Phe SP substitution exon 1 VAR_063418 Q9BXU7:p.Met579Ile SP substitution exon 1 VAR_063419 Q8IZI9:p.Arg28His SP substitution exon 1 VAR_063420 Q8IZI9:p.Lys70Arg SP substitution exon 1 VAR_063421 P43243:p.Ser85Cys SP substitution exon 1 VAR_063422 Q5H8C1:p.Arg649Trp SP substitution exon 1 VAR_063423 Q5H8C1:p.Gly1440Ser SP substitution exon 1 VAR_063424 Q08881:p.Arg335Trp SP substitution exon 1 VAR_063425 P28069:p.Arg172Gln SP substitution exon 1 VAR_063426 P28069:p.Ser179Arg SP substitution exon 1 VAR_063427 P28069:p.Glu230Lys SP substitution exon 1 VAR_063428 O75648:p.Gly14Ser SP substitution exon 1 VAR_063429 O75648:p.Tyr77His SP substitution exon 1 VAR_063430 O75648:p.Gly272Asp SP substitution exon 1 VAR_063431 O75648:p.Val279Met SP substitution exon 1 VAR_063432 P45452:p.Phe74Ser SP substitution exon 1 VAR_063433 P45452:p.Met91Thr SP substitution exon 1 VAR_063434 P45452:p.His232Asn SP substitution exon 1 VAR_063435 P55789:p.Arg194His SP substitution exon 1 VAR_063436 P23284:p.Met9Arg SP substitution exon 1 VAR_063437 Q5T1H1:p.Pro94Gln SP substitution exon 1 VAR_063438 Q5T1H1:p.Val112Ile SP substitution exon 1 VAR_063439 Q5T1H1:p.Thr135Leu SP substitution exon 1 VAR_063440 Q5T1H1:p.Val136Phe SP substitution exon 1 VAR_063441 Q5T1H1:p.Ser326Asn SP substitution exon 1 VAR_063442 Q5T1H1:p.Lys532Asn SP substitution exon 1 VAR_063443 Q5T1H1:p.Arg551Leu SP substitution exon 1 VAR_063444 Q5T1H1:p.Gln571Arg SP substitution exon 1 VAR_063445 Q5T1H1:p.Gly618Ser SP substitution exon 1 VAR_063446 Q5T1H1:p.Gly631Ser SP substitution exon 1 VAR_063447 Q5T1H1:p.Glu641Val SP substitution exon 1 VAR_063448 Q5T1H1:p.Asn745Ser SP substitution exon 1 VAR_063449 Q5T1H1:p.Val834Ile SP substitution exon 1 VAR_063450 Q5T1H1:p.Lys938Arg SP substitution exon 1 VAR_063451 Q5T1H1:p.Thr1110Ser SP substitution exon 1 VAR_063452 Q5T1H1:p.Asn1163Lys SP substitution exon 1 VAR_063453 Q5T1H1:p.Cys1176Arg SP substitution exon 1 VAR_063454 Q5T1H1:p.Ile1232Phe SP substitution exon 1 VAR_063455 Q5T1H1:p.Ile1263Val SP substitution exon 1 VAR_063456 Q5T1H1:p.Gln1325Glu SP substitution exon 1 VAR_063457 Q5T1H1:p.Ile1361Val SP substitution exon 1 VAR_063458 Q5T1H1:p.Lys1365Glu SP substitution exon 1 VAR_063459 Q5T1H1:p.Leu1419Ser SP substitution exon 1 VAR_063460 Q5T1H1:p.Ile1451Thr SP substitution exon 1 VAR_063461 Q5T1H1:p.Arg1515Trp SP substitution exon 1 VAR_063462 Q5T1H1:p.Ser1517Gly SP substitution exon 1 VAR_063463 Q5T1H1:p.Asp1662Val SP substitution exon 1 VAR_063464 Q5T1H1:p.Thr1664Ile SP substitution exon 1 VAR_063465 Q5T1H1:p.Asp1682Tyr SP substitution exon 1 VAR_063466 Q5T1H1:p.Pro1739Leu SP substitution exon 1 VAR_063467 Q5T1H1:p.Glu1747Gly SP substitution exon 1 VAR_063468 Q5T1H1:p.Leu1748Phe SP substitution exon 1 VAR_063469 Q5T1H1:p.Trp1837Ser SP substitution exon 1 VAR_063470 Q5T1H1:p.Leu1869Met SP substitution exon 1 VAR_063471 Q5T1H1:p.Leu1873Val SP substitution exon 1 VAR_063472 Q5T1H1:p.Asn1902Ile SP substitution exon 1 VAR_063473 Q5T1H1:p.Ser1915Gly SP substitution exon 1 VAR_063474 Q5T1H1:p.Thr1987Pro SP substitution exon 1 VAR_063475 Q5T1H1:p.Thr1993Ala SP substitution exon 1 VAR_063476 Q5T1H1:p.Ile1999Val SP substitution exon 1 VAR_063477 Q5T1H1:p.Val2040Asp SP substitution exon 1 VAR_063490 Q9Y252:p.Arg102Lys SP substitution exon 1 VAR_063491 Q9Y252:p.Ile164Thr SP substitution exon 1 VAR_063492 Q9Y252:p.Ala242Thr SP substitution exon 1 VAR_063493 Q9Y252:p.Gly244Asp SP substitution exon 1 VAR_063494 Q9Y252:p.Arg572Gln SP substitution exon 1 VAR_063495 Q8IUD6:p.Arg115Lys SP substitution exon 1 VAR_063496 Q8IUD6:p.Trp415Cys SP substitution exon 1 VAR_063497 Q8J025:p.Leu9Arg SP substitution exon 1 VAR_063498 Q92560:p.Ala95Asp SP substitution exon 1 VAR_063499 Q92560:p.Gly178Val SP substitution exon 1 VAR_063500 Q9UKT5:p.Ser8Arg SP substitution exon 1 VAR_063501 Q9UKT5:p.Ser12Leu SP substitution exon 1 VAR_063502 Q9UKT5:p.Pro13Ser SP substitution exon 1 VAR_063503 Q9UKT5:p.Leu23Gln SP substitution exon 1 VAR_063504 Q9UKT5:p.Pro76Thr SP substitution exon 1 VAR_063505 Q6ZRS4:p.His377Arg SP substitution exon 1 VAR_063506 O00214:p.Arg184Ser SP substitution exon 1 VAR_063507 Q13216:p.Ala160Thr SP substitution exon 1 VAR_063508 Q13216:p.Trp194Cys SP substitution exon 1 VAR_063509 Q13216:p.Leu202Ser SP substitution exon 1 VAR_063510 Q13216:p.Asp266Gly SP substitution exon 1 VAR_063511 Q03468:p.Asn680Asp SP substitution exon 1 VAR_063512 Q03468:p.Trp686Cys SP substitution exon 1 VAR_063513 Q03468:p.Ser687Leu SP substitution exon 1 VAR_063517 Q8IWL2:p.Pro5Leu SP substitution exon 1 VAR_063518 Q8IWL1:p.Leu12Trp SP substitution exon 1 VAR_063521 Q71SY5:p.Ala335Val SP substitution exon 1 VAR_063522 P60891:p.Asp65Asn SP substitution exon 1 VAR_063523 P60891:p.Ala87Thr SP substitution exon 1 VAR_063527 P49588:p.Arg329His SP substitution exon 1 VAR_063528 Q9HBA0:p.Arg269Cys SP substitution exon 1 VAR_063529 Q9HBA0:p.Arg269His SP substitution exon 1 VAR_063530 Q9HBA0:p.Arg316Cys SP substitution exon 1 VAR_063531 O60333:p.Ser34Leu SP substitution exon 1 VAR_063532 O60333:p.Glu692Val SP substitution exon 1 VAR_063533 O60333:p.Thr873Ile SP substitution exon 1 VAR_063534 O60333:p.Tyr1133Cys SP substitution exon 1 VAR_063535 O60333:p.Pro1263Ser SP substitution exon 1 VAR_063536 O60333:p.Ser1527Asn SP substitution exon 1 VAR_063537 O60333:p.Val1600Met SP substitution exon 1 VAR_063538 O60333:p.Glu1674Lys SP substitution exon 1 VAR_063539 O75643:p.Ser1087Leu SP substitution exon 1 VAR_063540 O75643:p.Arg1090Leu SP substitution exon 1 VAR_063541 Q9HBA0:p.Arg315Trp SP substitution exon 1 VAR_063542 Q13651:p.Thr84Ile SP substitution exon 1 VAR_063543 Q13651:p.Gly141Arg SP substitution exon 1 VAR_063544 Q9Y4W6:p.Asn432Thr SP substitution exon 1 VAR_063545 Q9Y4W6:p.Glu691Lys SP substitution exon 1 VAR_063546 Q9Y4W6:p.Ala694Glu SP substitution exon 1 VAR_063547 Q9Y4W6:p.Arg702Gln SP substitution exon 1 VAR_063548 P19429:p.Lys36Gln SP substitution exon 1 VAR_063549 P19429:p.Asn185Lys SP substitution exon 1 VAR_063550 P13533:p.Gly56Arg SP substitution exon 1 VAR_063551 P13533:p.Ile275Asn SP substitution exon 1 VAR_063552 P13533:p.Pro830Leu SP substitution exon 1 VAR_063553 P13533:p.Ala1004Ser SP substitution exon 1 VAR_063554 P13533:p.Gln1065His SP substitution exon 1 VAR_063555 P13533:p.Ala1130Thr SP substitution exon 1 VAR_063556 P13533:p.Glu1295Gln SP substitution exon 1 VAR_063557 P13533:p.Glu1457Lys SP substitution exon 1 VAR_063558 P13533:p.Arg1502Gln SP substitution exon 1 VAR_063559 O95237:p.Pro173Leu SP substitution exon 1 VAR_063560 P31327:p.Gly79Glu SP substitution exon 1 VAR_063561 P31327:p.Tyr212Asn SP substitution exon 1 VAR_063562 P31327:p.Lys280Asn SP substitution exon 1 VAR_063563 P31327:p.Ala438Pro SP substitution exon 1 VAR_063564 P31327:p.Arg587His SP substitution exon 1 VAR_063565 P31327:p.Gly593Arg SP substitution exon 1 VAR_063566 P31327:p.Glu651Lys SP substitution exon 1 VAR_063567 P31327:p.Asn674Ile SP substitution exon 1 VAR_063568 P31327:p.Arg780His SP substitution exon 1 VAR_063569 P31327:p.Arg850Cys SP substitution exon 1 VAR_063570 P31327:p.Gly982Asp SP substitution exon 1 VAR_063576 O95859:p.Leu101His SP substitution exon 1 VAR_063580 P62854:p.Asp33Asn SP substitution exon 1 VAR_063581 P62854:p.Met115Thr SP substitution exon 1 VAR_063582 Q75V66:p.Gly231Val SP substitution exon 1 VAR_063583 Q75V66:p.Arg758Cys SP substitution exon 1 VAR_063584 Q9HBG6:p.Trp7Cys SP substitution exon 1 VAR_063585 Q9HBG6:p.Ser322Phe SP substitution exon 1 VAR_063586 Q9HBG6:p.Val502Gly SP substitution exon 1 VAR_063587 Q7RTS7:p.Asn148Lys SP substitution exon 1 VAR_063588 P02545:p.Asn39Ser SP substitution exon 1 VAR_063589 P02545:p.Arg249Trp SP substitution exon 1 VAR_063590 P02545:p.Leu302Pro SP substitution exon 1 VAR_063591 P02545:p.Leu380Ser SP substitution exon 1 VAR_063592 P02545:p.Arg453Pro SP substitution exon 1 VAR_063593 P02545:p.Arg455Pro SP substitution exon 1 VAR_063594 P02545:p.Asn456Asp SP substitution exon 1 VAR_063595 O75204:p.Val90Met SP substitution exon 1 VAR_063597 Q96CV9:p.Glu478Gly SP substitution exon 1 VAR_063599 O75718:p.Ala13Glu SP substitution exon 1 VAR_063600 O75718:p.Lys157Glu SP substitution exon 1 VAR_063602 P50454:p.Leu78Pro SP substitution exon 1 VAR_063603 Q9UQ90:p.Ala2Thr SP substitution exon 1 VAR_063605 Q9UQ90:p.Phe284Pro SP substitution exon 1 VAR_063606 Q9UQ90:p.Arg294His SP substitution exon 1 VAR_063607 Q9UQ90:p.Gly349Ser SP substitution exon 1 VAR_063608 Q9UQ90:p.Arg486Gln SP substitution exon 1 VAR_063609 Q9UQ90:p.Ala510Val SP substitution exon 1 VAR_063610 Q9UQ90:p.Phe545Leu SP substitution exon 1 VAR_063612 Q9UQ90:p.Trp583Cys SP substitution exon 1 VAR_063613 Q9UQ90:p.Ala603Thr SP substitution exon 1 VAR_063614 Q9UQ90:p.Ser635Leu SP substitution exon 1 VAR_063615 Q9UQ90:p.Asp650His SP substitution exon 1 VAR_063616 Q9HC84:p.Glu34Gly SP substitution exon 1 VAR_063617 Q9HC84:p.Gly1805Ser SP substitution exon 1 VAR_063618 Q9HC84:p.Pro1889Leu SP substitution exon 1 VAR_063619 Q9HC84:p.Ala2025Thr SP substitution exon 1 VAR_063620 Q9HC84:p.Met2194Thr SP substitution exon 1 VAR_063621 Q9HC84:p.Leu2238Pro SP substitution exon 1 VAR_063622 Q9HC84:p.Met2425Thr SP substitution exon 1 VAR_063623 Q9HC84:p.Phe3072Ser SP substitution exon 1 VAR_063624 Q9HC84:p.Thr3284Ala SP substitution exon 1 VAR_063625 Q9HC84:p.Arg3468Pro SP substitution exon 1 VAR_063626 Q9HC84:p.Thr3816Met SP substitution exon 1 VAR_063627 Q9HC84:p.Ala4404Gly SP substitution exon 1 VAR_063628 Q9HC84:p.Pro4440Leu SP substitution exon 1 VAR_063629 Q9HC84:p.Thr4706Pro SP substitution exon 1 VAR_063630 Q9HC84:p.Thr4712Met SP substitution exon 1 VAR_063631 Q9HC84:p.Ala4867Thr SP substitution exon 1 VAR_063632 Q9HC84:p.Thr4882Ala SP substitution exon 1 VAR_063633 Q86TI4:p.Met355Thr SP substitution exon 1 VAR_063634 P35219:p.Ser100Pro SP substitution exon 1 VAR_063635 Q63HK5:p.Glu469Gly SP substitution exon 1 VAR_063636 Q96T55:p.Phe215Leu SP substitution exon 1 VAR_063637 Q96T55:p.Ala275Gly SP substitution exon 1 VAR_063638 Q16270:p.Arg78Gly SP substitution exon 1 VAR_063639 Q16270:p.Lys95Arg SP substitution exon 1 VAR_063640 O14773:p.Pro202Leu SP substitution exon 1 VAR_063642 P48436:p.Ala76Glu SP substitution exon 1 VAR_063643 P48436:p.Met113Thr SP substitution exon 1 VAR_063644 P48436:p.Met113Val SP substitution exon 1 VAR_063645 P48436:p.His165Gln SP substitution exon 1 VAR_063646 P48436:p.Pro170Leu SP substitution exon 1 VAR_063647 P48436:p.Lys173Glu SP substitution exon 1 VAR_063648 P08603:p.Cys325Tyr SP substitution exon 1 VAR_063649 P08603:p.Val609Ile SP substitution exon 1 VAR_063650 P08603:p.Ile1169Leu SP substitution exon 1 VAR_063651 P08603:p.Trp1183Cys SP substitution exon 1 VAR_063652 Q9BXR6:p.Tyr277Asn SP substitution exon 1 VAR_063653 Q9BXR6:p.Val379Leu SP substitution exon 1 VAR_063654 P01024:p.Phe603Val SP substitution exon 1 VAR_063655 P01024:p.Arg1042Leu SP substitution exon 1 VAR_063656 P15529:p.Cys35Tyr SP substitution exon 1 VAR_063657 P15529:p.Trp216Cys SP substitution exon 1 VAR_063658 P15529:p.Pro231Arg SP substitution exon 1 VAR_063665 P05156:p.Pro64Leu SP substitution exon 1 VAR_063666 P05156:p.Gly119Arg SP substitution exon 1 VAR_063667 P05156:p.His183Arg SP substitution exon 1 VAR_063668 P05156:p.Gly287Arg SP substitution exon 1 VAR_063669 P05156:p.Arg317Trp SP substitution exon 1 VAR_063673 P07204:p.Asp34Glu SP substitution exon 1 VAR_063674 P07204:p.Ala236Gly SP substitution exon 1 VAR_063675 P12107:p.Gly565Val SP substitution exon 1 VAR_063676 P12107:p.Gly1027Arg SP substitution exon 1 VAR_063678 P12107:p.Gly1513Asp SP substitution exon 1 VAR_063679 Q96N22:p.Arg367Lys SP substitution exon 1 VAR_063680 Q96N22:p.His548Gln SP substitution exon 1 VAR_063681 Q8NAG6:p.Ala31Thr SP substitution exon 1 VAR_063682 Q8NAG6:p.Ala71Val SP substitution exon 1 VAR_063683 O00555:p.Tyr248Cys SP substitution exon 1 VAR_063684 O00555:p.Leu389Phe SP substitution exon 1 VAR_063685 O00555:p.Ala405Thr SP substitution exon 1 VAR_063686 O00555:p.Ala454Thr SP substitution exon 1 VAR_063687 O00555:p.Thr501Met SP substitution exon 1 VAR_063688 O00555:p.Gly638Asp SP substitution exon 1 VAR_063689 O00555:p.Met798Thr SP substitution exon 1 VAR_063690 O00555:p.Pro897Arg SP substitution exon 1 VAR_063691 O00555:p.Arg1664Gln SP substitution exon 1 VAR_063692 O00555:p.Arg1679Cys SP substitution exon 1 VAR_063693 O00555:p.Cys1869Arg SP substitution exon 1 VAR_063694 Q9NQ40:p.Glu36Lys SP substitution exon 1 VAR_063695 Q9NQ40:p.Arg132Trp SP substitution exon 1 VAR_063696 Q9NQ40:p.Phe224Leu SP substitution exon 1 VAR_063698 Q9NQ40:p.Leu350Met SP substitution exon 1 VAR_063699 Q9NQ40:p.Ser411Arg SP substitution exon 1 VAR_063700 Q9NQ40:p.Val413Ala SP substitution exon 1 VAR_063701 Q9NQ40:p.Phe457Leu SP substitution exon 1 VAR_063702 O43379:p.Trp224Ser SP substitution exon 1 VAR_063703 O43379:p.Glu526Lys SP substitution exon 1 VAR_063704 O00429:p.Ala395Asp SP substitution exon 1 VAR_063706 O00555:p.Val1695Ile SP substitution exon 1 VAR_063707 P48029:p.Gly132Val SP substitution exon 1 VAR_063708 P48029:p.Cys337Trp SP substitution exon 1 VAR_063709 P48029:p.Cys491Trp SP substitution exon 1 VAR_063711 P12272:p.Leu44Pro SP substitution exon 1 VAR_063712 P12272:p.Leu60Pro SP substitution exon 1 VAR_063713 Q8NBS3:p.Arg125His SP substitution exon 1 VAR_063714 Q8NBS3:p.Ala269Val SP substitution exon 1 VAR_063715 Q8NBS3:p.Cys386Arg SP substitution exon 1 VAR_063716 Q8NBS3:p.Arg755Trp SP substitution exon 1 VAR_063717 Q8NBS3:p.Pro773Leu SP substitution exon 1 VAR_063718 Q8NBS3:p.Leu873Pro SP substitution exon 1 VAR_063719 P22413:p.Gly266Val SP substitution exon 1 VAR_063720 P22413:p.Tyr901Ser SP substitution exon 1 VAR_063721 P01308:p.Arg6Cys SP substitution exon 1 VAR_063722 P01308:p.Arg6His SP substitution exon 1 VAR_063723 P01308:p.Ala24Asp SP substitution exon 1 VAR_063724 P01308:p.His29Asp SP substitution exon 1 VAR_063725 P01308:p.Gly32Arg SP substitution exon 1 VAR_063726 P01308:p.Gly32Ser SP substitution exon 1 VAR_063727 P01308:p.Leu35Pro SP substitution exon 1 VAR_063728 P01308:p.Cys43Gly SP substitution exon 1 VAR_063729 P01308:p.Arg46Gln SP substitution exon 1 VAR_063730 P01308:p.Gly47Val SP substitution exon 1 VAR_063731 P01308:p.Phe48Cys SP substitution exon 1 VAR_063732 P01308:p.Arg55Cys SP substitution exon 1 VAR_063733 P01308:p.Leu68Met SP substitution exon 1 VAR_063734 P01308:p.Gly84Arg SP substitution exon 1 VAR_063735 P01308:p.Arg89Cys SP substitution exon 1 VAR_063736 P01308:p.Gly90Cys SP substitution exon 1 VAR_063737 P01308:p.Cys96Ser SP substitution exon 1 VAR_063738 P01308:p.Cys96Tyr SP substitution exon 1 VAR_063739 P01308:p.Ser101Cys SP substitution exon 1 VAR_063740 P01308:p.Tyr103Cys SP substitution exon 1 VAR_063741 P01308:p.Tyr108Cys SP substitution exon 1 VAR_063746 Q6UXH8:p.Cys75Ser SP substitution exon 1 VAR_063747 Q6UXH8:p.Cys102Ser SP substitution exon 1 VAR_063748 Q6UXH8:p.Arg158Cys SP substitution exon 1 VAR_063749 Q6UXH8:p.Cys174Arg SP substitution exon 1 VAR_063751 Q14781:p.Pro98Leu SP substitution exon 1 VAR_063752 Q14781:p.Arg443Pro SP substitution exon 1 VAR_063753 Q8NF50:p.Lys473Arg SP substitution exon 1 VAR_063754 Q8NCH0:p.Arg135Gly SP substitution exon 1 VAR_063755 Q8NCH0:p.Leu137Gln SP substitution exon 1 VAR_063756 Q8NCH0:p.Arg213Pro SP substitution exon 1 VAR_063757 Q8NCH0:p.Tyr293Cys SP substitution exon 1 VAR_063759 P37275:p.Asn78Thr SP substitution exon 1 VAR_063760 P37275:p.Pro649Ala SP substitution exon 1 VAR_063764 A1X283:p.Arg43Trp SP substitution exon 1 VAR_063766 P48544:p.Gly387Arg SP substitution exon 1 VAR_063768 P46976:p.Thr83Met SP substitution exon 1 VAR_063770 P00797:p.Leu16Arg SP substitution exon 1 VAR_063771 Q01959:p.Leu368Gln SP substitution exon 1 VAR_063772 Q01959:p.Pro395Leu SP substitution exon 1 VAR_063773 Q12988:p.Arg7Ser SP substitution exon 1 VAR_063774 Q9NYJ8:p.Pro208Ser SP substitution exon 1 VAR_063775 Q9NYJ8:p.Gln230Lys SP substitution exon 1 VAR_063776 O75096:p.Asp137Asn SP substitution exon 1 VAR_063777 O75096:p.Cys160Tyr SP substitution exon 1 VAR_063778 O75096:p.Asp449Asn SP substitution exon 1 VAR_063779 O75096:p.Thr461Pro SP substitution exon 1 VAR_063780 O75096:p.Leu473Phe SP substitution exon 1 VAR_063781 O75096:p.Asp529Asn SP substitution exon 1 VAR_063782 O75096:p.Cys1017Arg SP substitution exon 1 VAR_063783 Q5HYA8:p.Pro82Arg SP substitution exon 1 VAR_063784 Q5HYA8:p.Pro82Ser SP substitution exon 1 VAR_063785 Q5HYA8:p.Lys99Asn SP substitution exon 1 VAR_063786 Q5HYA8:p.Pro130Arg SP substitution exon 1 VAR_063787 Q5HYA8:p.Arg172Gln SP substitution exon 1 VAR_063788 Q5HYA8:p.Asn242Thr SP substitution exon 1 VAR_063789 Q5HYA8:p.Met257Val SP substitution exon 1 VAR_063790 Q5HYA8:p.Leu349Ser SP substitution exon 1 VAR_063791 Q5HYA8:p.Pro358Leu SP substitution exon 1 VAR_063792 Q5HYA8:p.Thr372Lys SP substitution exon 1 VAR_063793 Q5HYA8:p.Gln376Glu SP substitution exon 1 VAR_063794 Q5HYA8:p.Arg441Cys SP substitution exon 1 VAR_063795 Q5HYA8:p.Pro485Ser SP substitution exon 1 VAR_063796 Q5HYA8:p.Phe590Ser SP substitution exon 1 VAR_063797 Q5HYA8:p.Phe637Leu SP substitution exon 1 VAR_063798 Q5HYA8:p.Ser728Gly SP substitution exon 1 VAR_063799 Q5HYA8:p.His782Arg SP substitution exon 1 VAR_063800 Q5HYA8:p.Arg820Ser SP substitution exon 1 VAR_063801 Q5HYA8:p.Ile833Thr SP substitution exon 1 VAR_063802 Q5HYA8:p.Gln841Pro SP substitution exon 1 VAR_063803 Q5HYA8:p.Phe942Cys SP substitution exon 1 VAR_063804 Q9P2K1:p.Thr1116Met SP substitution exon 1 VAR_063805 Q68CZ1:p.Ser659Pro SP substitution exon 1 VAR_063806 Q9Y6X0:p.Asp868Ala SP substitution exon 1 VAR_063807 Q9Y6X0:p.Asp868Asn SP substitution exon 1 VAR_063808 Q9Y6X0:p.Gly870Asp SP substitution exon 1 VAR_063809 Q9Y6X0:p.Gly870Ser SP substitution exon 1 VAR_063810 Q9Y6X0:p.Ile871Thr SP substitution exon 1 VAR_063811 Q14739:p.Arg372Cys SP substitution exon 1 VAR_063813 O94986:p.Gln265Pro SP substitution exon 1 VAR_063814 Q15833:p.Leu209Pro SP substitution exon 1 VAR_063816 Q15833:p.Arg292His SP substitution exon 1 VAR_063817 Q15833:p.Arg405Gln SP substitution exon 1 VAR_063818 Q15833:p.Arg405Trp SP substitution exon 1 VAR_063819 Q15833:p.Pro477Leu SP substitution exon 1 VAR_063821 O60832:p.Leu56Ser SP substitution exon 1 VAR_063822 O60832:p.Leu72Phe SP substitution exon 1 VAR_063823 O60832:p.Leu317Phe SP substitution exon 1 VAR_063824 O60832:p.Arg322Gln SP substitution exon 1 VAR_063825 O60832:p.Pro409Leu SP substitution exon 1 VAR_063828 Q9UJ71:p.Trp264Arg SP substitution exon 1 VAR_063829 P16422:p.Cys66Tyr SP substitution exon 1 VAR_063830 O14686:p.Cys5109Phe SP substitution exon 1 VAR_063831 O14686:p.Arg5179His SP substitution exon 1 VAR_063832 O14686:p.Arg5214His SP substitution exon 1 VAR_063833 O14686:p.Arg5340Leu SP substitution exon 1 VAR_063834 O14686:p.Thr5464Met SP substitution exon 1 VAR_063835 Q96T60:p.Leu176Phe SP substitution exon 1 VAR_063837 O43502:p.Gly3Arg SP substitution exon 1 VAR_063838 O43502:p.Gly125Val SP substitution exon 1 VAR_063839 O43502:p.Ala126Thr SP substitution exon 1 VAR_063840 O43502:p.Leu138Phe SP substitution exon 1 VAR_063841 O43502:p.Asp159Asn SP substitution exon 1 VAR_063842 O43502:p.Val169Ala SP substitution exon 1 VAR_063843 O43502:p.Gly264Ser SP substitution exon 1 VAR_063844 O43502:p.Gly264Val SP substitution exon 1 VAR_063846 P21817:p.Met402Thr SP substitution exon 1 VAR_063847 P21817:p.His2035Leu SP substitution exon 1 VAR_063848 P21817:p.Asn3326Lys SP substitution exon 1 VAR_063849 P21817:p.Cys3402Gly SP substitution exon 1 VAR_063850 Q9UM73:p.Asp1091Asn SP substitution exon 1 VAR_063851 Q9UM73:p.Gly1128Ala SP substitution exon 1 VAR_063852 Q9UM73:p.Thr1151Met SP substitution exon 1 VAR_063853 Q9UM73:p.Met1166Arg SP substitution exon 1 VAR_063854 Q9UM73:p.Ile1171Asn SP substitution exon 1 VAR_063855 Q9UM73:p.Phe1174Cys SP substitution exon 1 VAR_063856 Q9UM73:p.Phe1174Ile SP substitution exon 1 VAR_063857 Q9UM73:p.Phe1174Leu SP substitution exon 1 VAR_063858 Q9UM73:p.Phe1174Val SP substitution exon 1 VAR_063859 Q9UM73:p.Arg1192Pro SP substitution exon 1 VAR_063860 Q9UM73:p.Ala1234Thr SP substitution exon 1 VAR_063861 Q9UM73:p.Phe1245Cys SP substitution exon 1 VAR_063862 Q9UM73:p.Phe1245Val SP substitution exon 1 VAR_063863 Q9UM73:p.Ile1250Thr SP substitution exon 1 VAR_063864 Q9UM73:p.Arg1275Leu SP substitution exon 1 VAR_063865 Q9UM73:p.Arg1275Gln SP substitution exon 1 VAR_063866 Q9UM73:p.Tyr1278Ser SP substitution exon 1 VAR_063867 Q14203:p.Gly71Ala SP substitution exon 1 VAR_063868 Q14203:p.Gly71Glu SP substitution exon 1 VAR_063869 Q14203:p.Gly71Arg SP substitution exon 1 VAR_063870 Q14203:p.Thr72Pro SP substitution exon 1 VAR_063871 Q14203:p.Gln74Pro SP substitution exon 1 VAR_063872 Q14203:p.Met571Thr SP substitution exon 1 VAR_063873 Q14203:p.Arg785Trp SP substitution exon 1 VAR_063874 Q14203:p.Arg1101Lys SP substitution exon 1 VAR_063875 Q14203:p.Thr1249Ile SP substitution exon 1 VAR_063876 Q5T442:p.His19Pro SP substitution exon 1 VAR_063877 Q5T442:p.Ser48Leu SP substitution exon 1 VAR_063878 Q5T442:p.Arg125Gln SP substitution exon 1 VAR_063879 Q5T442:p.Gly149Ser SP substitution exon 1 VAR_063880 Q5T442:p.Arg260Cys SP substitution exon 1 VAR_063881 Q5T442:p.Pro316Leu SP substitution exon 1 VAR_063882 Q04656:p.Thr994Ile SP substitution exon 1 VAR_063883 Q04656:p.Asn1304Ser SP substitution exon 1 VAR_063884 Q04656:p.Pro1386Ser SP substitution exon 1 VAR_063885 P55316:p.Phe215Leu SP substitution exon 1 VAR_063888 Q96RJ3:p.Gly64Val SP substitution exon 1 VAR_063890 Q96RJ3:p.His159Tyr SP substitution exon 1 VAR_063891 P02458:p.Cys57Tyr SP substitution exon 1 VAR_063892 P02458:p.Gly240Asp SP substitution exon 1 VAR_063893 P02458:p.Gly270Arg SP substitution exon 1 VAR_063894 P02458:p.Gly282Asp SP substitution exon 1 VAR_063895 P02458:p.Gly453Ala SP substitution exon 1 VAR_063896 P02458:p.Gly501Arg SP substitution exon 1 VAR_063897 P02458:p.Asp547Val SP substitution exon 1 VAR_063898 P02458:p.Gly1158Ala SP substitution exon 1 VAR_063899 P38398:p.Met18Thr SP substitution exon 1 VAR_063911 P51587:p.Arg2502Cys SP substitution exon 1 VAR_063912 P51587:p.Ile2627Phe SP substitution exon 1 VAR_063913 P51587:p.Leu2653Pro SP substitution exon 1 VAR_063914 P51587:p.Arg2659Lys SP substitution exon 1 VAR_063915 P51587:p.Glu2663Val SP substitution exon 1 VAR_063916 P51587:p.Asp2723Gly SP substitution exon 1 VAR_063917 P51587:p.Gly2748Asp SP substitution exon 1 VAR_063918 P51587:p.Arg3052Trp SP substitution exon 1 VAR_063919 O43186:p.Lys88Asn SP substitution exon 1 VAR_063920 Q9ULV1:p.Pro33Ser SP substitution exon 1 VAR_063921 Q9ULV1:p.Gly36Asp SP substitution exon 1 VAR_063922 Q9ULV1:p.Glu40Gln SP substitution exon 1 VAR_063923 Q9ULV1:p.His69Tyr SP substitution exon 1 VAR_063924 Q9ULV1:p.Met105Thr SP substitution exon 1 VAR_063925 Q9ULV1:p.Ile114Thr SP substitution exon 1 VAR_063926 Q9ULV1:p.Pro168Ser SP substitution exon 1 VAR_063927 Q9ULV1:p.Cys181Arg SP substitution exon 1 VAR_063928 Q9ULV1:p.Lys203Asn SP substitution exon 1 VAR_063929 Q9ULV1:p.Cys204Arg SP substitution exon 1 VAR_063930 Q9ULV1:p.Cys204Tyr SP substitution exon 1 VAR_063931 Q9ULV1:p.Met223Lys SP substitution exon 1 VAR_063932 Q9ULV1:p.Ile256Val SP substitution exon 1 VAR_063933 Q9ULV1:p.Trp335Cys SP substitution exon 1 VAR_063934 Q9ULV1:p.Met342Val SP substitution exon 1 VAR_063935 Q9ULV1:p.Ala370Gly SP substitution exon 1 VAR_063936 Q9ULV1:p.Arg417Gln SP substitution exon 1 VAR_063937 Q9ULV1:p.Thr445Pro SP substitution exon 1 VAR_063938 Q9ULV1:p.Gly488Asp SP substitution exon 1 VAR_063939 Q9ULV1:p.Ser497Phe SP substitution exon 1 VAR_063940 Q9ULV1:p.Gly525Arg SP substitution exon 1 VAR_063941 O75197:p.Ala29Thr SP substitution exon 1 VAR_063942 O75197:p.Ala97Val SP substitution exon 1 VAR_063943 O75197:p.Leu145Phe SP substitution exon 1 VAR_063944 O75197:p.Arg154Met SP substitution exon 1 VAR_063945 O75197:p.Asp203Asn SP substitution exon 1 VAR_063946 O75197:p.Thr244Met SP substitution exon 1 VAR_063947 O75197:p.Ser307Phe SP substitution exon 1 VAR_063948 O75197:p.Arg348Trp SP substitution exon 1 VAR_063949 O75197:p.Arg353Gln SP substitution exon 1 VAR_063950 O75197:p.Ser356Leu SP substitution exon 1 VAR_063951 O75197:p.Thr390Lys SP substitution exon 1 VAR_063952 O75197:p.Ala400Glu SP substitution exon 1 VAR_063953 O75197:p.Gly404Arg SP substitution exon 1 VAR_063954 O75197:p.Thr409Ala SP substitution exon 1 VAR_063955 O75197:p.Asp434Asn SP substitution exon 1 VAR_063956 O75197:p.Glu441Lys SP substitution exon 1 VAR_063957 O75197:p.Arg444Cys SP substitution exon 1 VAR_063958 O75197:p.Ser455Leu SP substitution exon 1 VAR_063959 O75197:p.Glu460Lys SP substitution exon 1 VAR_063960 O75197:p.Trp478Arg SP substitution exon 1 VAR_063961 O75197:p.Trp504Cys SP substitution exon 1 VAR_063962 O75197:p.Asp511Ala SP substitution exon 1 VAR_063963 O75197:p.Gly520Val SP substitution exon 1 VAR_063964 O75197:p.Ala522Thr SP substitution exon 1 VAR_063965 O75197:p.Asn531Ile SP substitution exon 1 VAR_063966 O75197:p.Thr535Met SP substitution exon 1 VAR_063967 O75197:p.Gly550Arg SP substitution exon 1 VAR_063968 O75197:p.Gly610Arg SP substitution exon 1 VAR_063969 O75197:p.Phe617Cys SP substitution exon 1 VAR_063970 O75197:p.Asp683Asn SP substitution exon 1 VAR_063971 O75197:p.Tyr733His SP substitution exon 1 VAR_063972 O75197:p.Thr798Ala SP substitution exon 1 VAR_063973 O75197:p.Arg805Trp SP substitution exon 1 VAR_063982 Q9BQB4:p.Cys167Arg SP substitution exon 1 VAR_063983 Q68CP4:p.Cys104Phe SP substitution exon 1 VAR_063984 Q68CP4:p.Leu165Pro SP substitution exon 1 VAR_063985 Q68CP4:p.Pro265Gln SP substitution exon 1 VAR_063986 Q68CP4:p.Ile280Arg SP substitution exon 1 VAR_063987 Q68CP4:p.Gly290Arg SP substitution exon 1 VAR_063988 Q68CP4:p.Asn301Lys SP substitution exon 1 VAR_063989 Q68CP4:p.Arg372His SP substitution exon 1 VAR_063990 Q68CP4:p.Trp431Cys SP substitution exon 1 VAR_063991 Q68CP4:p.Val509Leu SP substitution exon 1 VAR_063992 Q68CP4:p.Gly514Glu SP substitution exon 1 VAR_063993 Q68CP4:p.Ala517Glu SP substitution exon 1 VAR_063994 Q68CP4:p.Ser546Phe SP substitution exon 1 VAR_063995 Q68CP4:p.Lys551Gln SP substitution exon 1 VAR_063996 Q68CP4:p.Ser567Cys SP substitution exon 1 VAR_063998 Q00604:p.Ile18Lys SP substitution exon 1 VAR_063999 Q00604:p.Arg38Cys SP substitution exon 1 VAR_064000 Q00604:p.Arg41Ser SP substitution exon 1 VAR_064001 Q00604:p.His43Gln SP substitution exon 1 VAR_064002 Q00604:p.His43Arg SP substitution exon 1 VAR_064003 Q00604:p.Val45Glu SP substitution exon 1 VAR_064004 Q00604:p.Val45Met SP substitution exon 1 VAR_064005 Q00604:p.Lys54Asn SP substitution exon 1 VAR_064006 Q00604:p.Cys55Arg SP substitution exon 1 VAR_064007 Q00604:p.Leu61Ile SP substitution exon 1 VAR_064008 Q00604:p.Gly67Glu SP substitution exon 1 VAR_064009 Q00604:p.Gly67Arg SP substitution exon 1 VAR_064010 Q00604:p.Phe89Leu SP substitution exon 1 VAR_064011 Q00604:p.Arg90Cys SP substitution exon 1 VAR_064012 Q00604:p.Ser92Pro SP substitution exon 1 VAR_064013 Q00604:p.Cys95Phe SP substitution exon 1 VAR_064014 Q00604:p.Cys95Arg SP substitution exon 1 VAR_064015 Q00604:p.Arg97Pro SP substitution exon 1 VAR_064016 Q00604:p.Pro98Leu SP substitution exon 1 VAR_064017 Q00604:p.Leu103Val SP substitution exon 1 VAR_064018 Q00604:p.Lys104Asn SP substitution exon 1 VAR_064019 Q00604:p.Leu108Pro SP substitution exon 1 VAR_064020 Q00604:p.Cys110Arg SP substitution exon 1 VAR_064021 Q00604:p.Gly112Glu SP substitution exon 1 VAR_064022 Q00604:p.Arg115Leu SP substitution exon 1 VAR_064023 Q00604:p.Ala118Asp SP substitution exon 1 VAR_064024 Q00604:p.Arg121Leu SP substitution exon 1 VAR_064025 Q00604:p.Cys126Ser SP substitution exon 1 VAR_064026 Q00604:p.Cys128Arg SP substitution exon 1 VAR_064027 Q7Z418:p.Ala34Val SP substitution exon 1 VAR_064028 Q9P0N5:p.Arg73Cys SP substitution exon 1 VAR_064029 Q9P0N5:p.Arg73His SP substitution exon 1 VAR_064030 Q9P0N5:p.Gly77Ala SP substitution exon 1 VAR_064032 O43502:p.Arg258His SP substitution exon 1 VAR_064033 Q9UBZ4:p.His269Tyr SP substitution exon 1 VAR_064035 Q86XE5:p.Cys257Gly SP substitution exon 1 VAR_064036 Q86XE5:p.Gly287Val SP substitution exon 1 VAR_064039 Q01831:p.Trp690Ser SP substitution exon 1 VAR_064040 Q07837:p.Pro122Ser SP substitution exon 1 VAR_064041 Q8TE56:p.Arg566Thr SP substitution exon 1 VAR_064042 Q8TD43:p.Glu7Lys SP substitution exon 1 VAR_064043 Q9UPI3:p.Pro280Arg SP substitution exon 1 VAR_064044 Q9UPI3:p.Leu398Val SP substitution exon 1 VAR_064045 Q9UPI3:p.Thr430Arg SP substitution exon 1 VAR_064050 Q8IUK5:p.Arg462His SP substitution exon 1 VAR_064051 P04001:p.Asn94Lys SP substitution exon 1 VAR_064052 P04001:p.Trp177Arg SP substitution exon 1 VAR_064053 P04001:p.Arg330Gln SP substitution exon 1 VAR_064054 P04000:p.Gly338Glu SP substitution exon 1 VAR_064055 P02545:p.Leu59Arg SP substitution exon 1 VAR_064056 Q9BT92:p.Ser44Pro SP substitution exon 1 VAR_064057 Q9BT92:p.Glu93Lys SP substitution exon 1 VAR_064058 P18075:p.Leu198Pro SP substitution exon 1 VAR_064059 P18075:p.Asn321Ser SP substitution exon 1 VAR_064060 Q5JUK2:p.Cys31Arg SP substitution exon 1 VAR_064061 Q5JUK2:p.Pro177Thr SP substitution exon 1 VAR_064062 P31327:p.Ser123Phe SP substitution exon 1 VAR_064063 P31327:p.Thr471Asn SP substitution exon 1 VAR_064064 P31327:p.Gln678Pro SP substitution exon 1 VAR_064065 P31327:p.Pro774Leu SP substitution exon 1 VAR_064070 P15586:p.Ser94Ile SP substitution exon 1 VAR_064072 P15586:p.Lys340Arg SP substitution exon 1 VAR_064073 P15586:p.Gly418Glu SP substitution exon 1 VAR_064075 Q8IU80:p.Tyr141Cys SP substitution exon 1 VAR_064076 Q8IU80:p.Ile212Thr SP substitution exon 1 VAR_064077 Q8IU80:p.Arg271Gln SP substitution exon 1 VAR_064078 Q8IU80:p.Ser304Leu SP substitution exon 1 VAR_064079 Q8IU80:p.Cys510Ser SP substitution exon 1 VAR_064081 Q13950:p.Gln53Leu SP substitution exon 1 VAR_064082 Q13950:p.Ser118Asn SP substitution exon 1 VAR_064083 Q13950:p.Arg131Cys SP substitution exon 1 VAR_064084 Q13950:p.Arg131Gly SP substitution exon 1 VAR_064085 Q13950:p.Arg131Ser SP substitution exon 1 VAR_064086 Q13950:p.Leu136Pro SP substitution exon 1 VAR_064087 Q13950:p.Val156Asp SP substitution exon 1 VAR_064088 Q13950:p.Val156Gly SP substitution exon 1 VAR_064089 Q13950:p.Arg169Pro SP substitution exon 1 VAR_064090 Q13950:p.Met175Lys SP substitution exon 1 VAR_064091 Q13950:p.Met175Val SP substitution exon 1 VAR_064092 Q13950:p.Phe187Ser SP substitution exon 1 VAR_064093 Q13950:p.Arg193Gln SP substitution exon 1 VAR_064094 Q13950:p.Thr200Ile SP substitution exon 1 VAR_064095 Q13950:p.Ile201Lys SP substitution exon 1 VAR_064096 Q13950:p.Gln209His SP substitution exon 1 VAR_064097 Q13950:p.Ala211Pro SP substitution exon 1 VAR_064098 Q13950:p.Lys218Glu SP substitution exon 1 VAR_064099 Q13950:p.Lys218Asn SP substitution exon 1 VAR_064100 Q13950:p.Lys218Gln SP substitution exon 1 VAR_064101 Q13950:p.Thr220Ile SP substitution exon 1 VAR_064102 Q13950:p.Arg225Leu SP substitution exon 1 VAR_064103 Q13950:p.Arg228Gly SP substitution exon 1 VAR_064104 Q13950:p.Lys233Arg SP substitution exon 1 VAR_064105 Q13950:p.Asp287Asn SP substitution exon 1 VAR_064106 Q13950:p.Ala362Val SP substitution exon 1 VAR_064107 Q13950:p.Thr420Ile SP substitution exon 1 VAR_064108 Q13950:p.Thr420Asn SP substitution exon 1 VAR_064109 O76082:p.Gly12Ser SP substitution exon 1 VAR_064110 O76082:p.Gly15Trp SP substitution exon 1 VAR_064111 O76082:p.Arg19Pro SP substitution exon 1 VAR_064112 O76082:p.Asn32Ser SP substitution exon 1 VAR_064113 O76082:p.Pro46Ser SP substitution exon 1 VAR_064114 O76082:p.Thr66Pro SP substitution exon 1 VAR_064115 O76082:p.Arg75Pro SP substitution exon 1 VAR_064116 O76082:p.Arg83Leu SP substitution exon 1 VAR_064117 O76082:p.Gly96Ala SP substitution exon 1 VAR_064118 O76082:p.Asp122Tyr SP substitution exon 1 VAR_064119 O76082:p.Val123Gly SP substitution exon 1 VAR_064120 O76082:p.Ala142Ser SP substitution exon 1 VAR_064121 O76082:p.Pro143Leu SP substitution exon 1 VAR_064122 O76082:p.Arg169Trp SP substitution exon 1 VAR_064123 O76082:p.Met177Val SP substitution exon 1 VAR_064124 O76082:p.Leu186Pro SP substitution exon 1 VAR_064125 O76082:p.Ala214Val SP substitution exon 1 VAR_064126 O76082:p.Arg227His SP substitution exon 1 VAR_064127 O76082:p.Phe230Leu SP substitution exon 1 VAR_064128 O76082:p.Thr232Met SP substitution exon 1 VAR_064129 O76082:p.Gly234Arg SP substitution exon 1 VAR_064130 O76082:p.Ala240Thr SP substitution exon 1 VAR_064131 O76082:p.Gly242Val SP substitution exon 1 VAR_064132 O76082:p.Arg257Trp SP substitution exon 1 VAR_064133 O76082:p.Thr264Arg SP substitution exon 1 VAR_064134 O76082:p.Arg282Gln SP substitution exon 1 VAR_064135 O76082:p.Ala301Asp SP substitution exon 1 VAR_064136 O76082:p.Ile312Val SP substitution exon 1 VAR_064137 O76082:p.Trp351Arg SP substitution exon 1 VAR_064138 O76082:p.Ser355Leu SP substitution exon 1 VAR_064139 O76082:p.Tyr358Asn SP substitution exon 1 VAR_064140 O76082:p.Ser362Leu SP substitution exon 1 VAR_064141 O76082:p.Pro398Leu SP substitution exon 1 VAR_064142 O76082:p.Arg399Gln SP substitution exon 1 VAR_064143 O76082:p.Arg399Trp SP substitution exon 1 VAR_064144 O76082:p.Thr440Met SP substitution exon 1 VAR_064145 O76082:p.Ala442Ile SP substitution exon 1 VAR_064146 O76082:p.Phe443Val SP substitution exon 1 VAR_064147 O76082:p.Tyr447Cys SP substitution exon 1 VAR_064148 O76082:p.Pro455Arg SP substitution exon 1 VAR_064149 O76082:p.Thr468Arg SP substitution exon 1 VAR_064150 O76082:p.Arg471Cys SP substitution exon 1 VAR_064151 O76082:p.Arg488Cys SP substitution exon 1 VAR_064152 O76082:p.Leu507Ser SP substitution exon 1 VAR_064153 Q8N2S1:p.Cys311Gly SP substitution exon 1 VAR_064156 P21333:p.Gly288Arg SP substitution exon 1 VAR_064157 P21333:p.Pro637Gln SP substitution exon 1 VAR_064158 P21333:p.Val711Asp SP substitution exon 1 VAR_064160 P43362:p.Pro31His SP substitution exon 1 VAR_064161 P51571:p.Gly144Arg SP substitution exon 1 VAR_064162 O15347:p.Glu56Gln SP substitution exon 1 VAR_064163 Q96NR8:p.Ala47Thr SP substitution exon 1 VAR_064164 Q96NR8:p.Thr55Met SP substitution exon 1 VAR_064165 Q96NR8:p.Arg65Gln SP substitution exon 1 VAR_064166 Q96NR8:p.Gly76Arg SP substitution exon 1 VAR_064167 Q96NR8:p.Asp101Asn SP substitution exon 1 VAR_064168 Q96NR8:p.Asn125Lys SP substitution exon 1 VAR_064169 Q96NR8:p.Ala126Val SP substitution exon 1 VAR_064170 Q96NR8:p.Gly145Glu SP substitution exon 1 VAR_064171 Q96NR8:p.Thr155Ile SP substitution exon 1 VAR_064172 Q96NR8:p.Arg193Cys SP substitution exon 1 VAR_064173 Q96NR8:p.Ala206Asp SP substitution exon 1 VAR_064174 Q96NR8:p.Ala206Val SP substitution exon 1 VAR_064175 Q96NR8:p.Pro230Leu SP substitution exon 1 VAR_064176 Q96NR8:p.Arg234His SP substitution exon 1 VAR_064177 Q96NR8:p.Arg239Trp SP substitution exon 1 VAR_064178 Q96NR8:p.Leu274Pro SP substitution exon 1 VAR_064179 Q96NR8:p.Cys285Tyr SP substitution exon 1 VAR_064180 P82279:p.Cys27Phe SP substitution exon 1 VAR_064182 P56715:p.Asp202Glu SP substitution exon 1 VAR_064183 P56715:p.Thr373Ile SP substitution exon 1 VAR_064184 Q9H0F7:p.Ala89Val SP substitution exon 1 VAR_064185 Q5HYA8:p.Trp290Leu SP substitution exon 1 VAR_064186 Q5HYA8:p.Gly821Arg SP substitution exon 1 VAR_064187 Q5HYA8:p.Gly821Ser SP substitution exon 1 VAR_064188 Q9Y2Z4:p.Phe52Leu SP substitution exon 1 VAR_064189 Q96NY8:p.Thr185Met SP substitution exon 1 VAR_064190 Q9NUD9:p.Gln256Lys SP substitution exon 1 VAR_064191 Q9NUD9:p.Ala341Glu SP substitution exon 1 VAR_064192 Q9NUD9:p.Ala341Val SP substitution exon 1 VAR_064193 Q9NUD9:p.His385Pro SP substitution exon 1 VAR_064194 O60500:p.Leu96Val SP substitution exon 1 VAR_064195 O60500:p.Ala107Thr SP substitution exon 1 VAR_064196 O60500:p.Ala107Val SP substitution exon 1 VAR_064197 O60500:p.Pro167Leu SP substitution exon 1 VAR_064198 O60500:p.Arg256Trp SP substitution exon 1 VAR_064199 O60500:p.Pro264Arg SP substitution exon 1 VAR_064200 O60500:p.Cys265Arg SP substitution exon 1 VAR_064201 O60500:p.Arg299Cys SP substitution exon 1 VAR_064202 O60500:p.Pro340His SP substitution exon 1 VAR_064203 O60500:p.Gly347Glu SP substitution exon 1 VAR_064204 O60500:p.Pro368Leu SP substitution exon 1 VAR_064205 O60500:p.Arg379Trp SP substitution exon 1 VAR_064206 O60500:p.Arg407Trp SP substitution exon 1 VAR_064207 O60500:p.Gly412Cys SP substitution exon 1 VAR_064208 O60500:p.Cys417Phe SP substitution exon 1 VAR_064209 O60500:p.Arg460Gln SP substitution exon 1 VAR_064210 O60500:p.Pro519Ser SP substitution exon 1 VAR_064211 O60500:p.Arg558Cys SP substitution exon 1 VAR_064212 O60500:p.Ser569Arg SP substitution exon 1 VAR_064213 O60500:p.Ser572Asn SP substitution exon 1 VAR_064214 O60500:p.Pro575Gln SP substitution exon 1 VAR_064215 O60500:p.Arg586Gly SP substitution exon 1 VAR_064216 O60500:p.Leu587Arg SP substitution exon 1 VAR_064217 O60500:p.His617Arg SP substitution exon 1 VAR_064218 O60500:p.Asn673Lys SP substitution exon 1 VAR_064219 O60500:p.Trp681Cys SP substitution exon 1 VAR_064220 O60500:p.Val709Gly SP substitution exon 1 VAR_064221 O60500:p.Glu725Asp SP substitution exon 1 VAR_064222 O60500:p.Ala739Val SP substitution exon 1 VAR_064223 O60500:p.Val822Met SP substitution exon 1 VAR_064224 O60500:p.Leu832Pro SP substitution exon 1 VAR_064225 O60500:p.Val834Phe SP substitution exon 1 VAR_064226 O60500:p.Ala851Val SP substitution exon 1 VAR_064227 O60500:p.Ser910Pro SP substitution exon 1 VAR_064228 O60500:p.Arg976Ser SP substitution exon 1 VAR_064229 P35498:p.Arg27Thr SP substitution exon 1 VAR_064230 P35498:p.Phe63Leu SP substitution exon 1 VAR_064231 P35498:p.Phe90Ser SP substitution exon 1 VAR_064232 P35498:p.Ile91Thr SP substitution exon 1 VAR_064233 P35498:p.Arg101Trp SP substitution exon 1 VAR_064234 P35498:p.Ile124Asn SP substitution exon 1 VAR_064235 P35498:p.Ile171Lys SP substitution exon 1 VAR_064236 P35498:p.Ala175Thr SP substitution exon 1 VAR_064237 P35498:p.Asn191Tyr SP substitution exon 1 VAR_064238 P35498:p.Asp194Asn SP substitution exon 1 VAR_064239 P35498:p.Ala239Val SP substitution exon 1 VAR_064240 P35498:p.Ser259Arg SP substitution exon 1 VAR_064241 P35498:p.Tyr388His SP substitution exon 1 VAR_064242 P35498:p.Val406Phe SP substitution exon 1 VAR_064243 P35498:p.Tyr413Asn SP substitution exon 1 VAR_064244 P35498:p.Arg604His SP substitution exon 1 VAR_064245 P35498:p.Leu783Pro SP substitution exon 1 VAR_064246 P35498:p.Arg862Gln SP substitution exon 1 VAR_064247 P35498:p.Thr875Lys SP substitution exon 1 VAR_064248 P35498:p.His939Tyr SP substitution exon 1 VAR_064249 P35498:p.Val944Glu SP substitution exon 1 VAR_064250 P35498:p.Phe945Leu SP substitution exon 1 VAR_064251 P35498:p.Gly950Glu SP substitution exon 1 VAR_064252 P35498:p.Trp952Gly SP substitution exon 1 VAR_064253 P35498:p.Glu954Lys SP substitution exon 1 VAR_064254 P35498:p.Thr1210Lys SP substitution exon 1 VAR_064255 P35498:p.Thr1260Pro SP substitution exon 1 VAR_064256 P35498:p.Leu1287Pro SP substitution exon 1 VAR_064257 P35498:p.Glu1308Asp SP substitution exon 1 VAR_064258 P35498:p.Leu1309Phe SP substitution exon 1 VAR_064259 P35498:p.Asn1367Lys SP substitution exon 1 VAR_064260 P35498:p.Cys1396Gly SP substitution exon 1 VAR_064261 P35498:p.Gly1433Glu SP substitution exon 1 VAR_064262 P35498:p.Gly1433Arg SP substitution exon 1 VAR_064263 P35498:p.Gln1450Lys SP substitution exon 1 VAR_064264 P35498:p.Leu1514Ser SP substitution exon 1 VAR_064265 P35498:p.Ile1545Val SP substitution exon 1 VAR_064266 P35498:p.Gly1586Glu SP substitution exon 1 VAR_064267 P35498:p.Val1612Ile SP substitution exon 1 VAR_064268 P35498:p.Val1637Glu SP substitution exon 1 VAR_064269 P35498:p.Arg1645Gln SP substitution exon 1 VAR_064270 P35498:p.Thr1658Met SP substitution exon 1 VAR_064271 P35498:p.Met1664Lys SP substitution exon 1 VAR_064272 P35498:p.Trp1726Arg SP substitution exon 1 VAR_064273 P35498:p.Cys1756Gly SP substitution exon 1 VAR_064274 P35498:p.Ile1782Met SP substitution exon 1 VAR_064275 P35498:p.Ala1783Thr SP substitution exon 1 VAR_064276 P35498:p.Glu1795Lys SP substitution exon 1 VAR_064277 Q15661:p.Asn3Ser SP substitution exon 1 VAR_064278 Q15661:p.Arg15Pro SP substitution exon 1 VAR_064279 Q15661:p.Arg28Gln SP substitution exon 1 VAR_064280 Q15661:p.Val29Ala SP substitution exon 1 VAR_064281 Q15661:p.His51Arg SP substitution exon 1 VAR_064282 Q15661:p.Gly52Asp SP substitution exon 1 VAR_064283 Q15661:p.Pro53Arg SP substitution exon 1 VAR_064284 Q15661:p.Val76Leu SP substitution exon 1 VAR_064285 Q15661:p.Thr115Ile SP substitution exon 1 VAR_064286 Q15661:p.Ala116Ile SP substitution exon 1 VAR_064287 Q15661:p.Ile118Thr SP substitution exon 1 VAR_064288 Q15661:p.Val133Ile SP substitution exon 1 VAR_064289 Q15661:p.Thr141Met SP substitution exon 1 VAR_064290 Q15661:p.Arg168Pro SP substitution exon 1 VAR_064291 Q15661:p.Val205Ile SP substitution exon 1 VAR_064292 Q15661:p.Gln221Lys SP substitution exon 1 VAR_064293 Q15661:p.Gly245Asp SP substitution exon 1 VAR_064294 Q15661:p.Tyr263Asn SP substitution exon 1 VAR_064295 P35498:p.Ser74Pro SP substitution exon 1 VAR_064296 P35498:p.Thr162Pro SP substitution exon 1 VAR_064297 P35498:p.Thr217Lys SP substitution exon 1 VAR_064298 P35498:p.Arg322Ile SP substitution exon 1 VAR_064299 P35498:p.Arg356Gly SP substitution exon 1 VAR_064300 P35498:p.Pro358Thr SP substitution exon 1 VAR_064301 P35498:p.Phe383Leu SP substitution exon 1 VAR_064302 P35498:p.Arg393Ser SP substitution exon 1 VAR_064303 P35498:p.Phe403Leu SP substitution exon 1 VAR_064304 P35498:p.Thr812Arg SP substitution exon 1 VAR_064305 P35498:p.Glu846Lys SP substitution exon 1 VAR_064306 P35498:p.Arg859Cys SP substitution exon 1 VAR_064307 P35498:p.Leu942Pro SP substitution exon 1 VAR_064308 P35498:p.Trp957Leu SP substitution exon 1 VAR_064309 P35498:p.Thr1174Ser SP substitution exon 1 VAR_064310 P35498:p.Ser1231Thr SP substitution exon 1 VAR_064311 P35498:p.Arg1245Gln SP substitution exon 1 VAR_064312 P35498:p.Asn1414Tyr SP substitution exon 1 VAR_064313 P35498:p.Tyr1422Cys SP substitution exon 1 VAR_064314 P35498:p.Leu1426Arg SP substitution exon 1 VAR_064315 P35498:p.Pro1451Leu SP substitution exon 1 VAR_064316 P35498:p.Gly1470Trp SP substitution exon 1 VAR_064317 P35498:p.Leu1475Ser SP substitution exon 1 VAR_064318 P35498:p.Arg1575Cys SP substitution exon 1 VAR_064319 P35498:p.Cys1588Arg SP substitution exon 1 VAR_064320 P35498:p.Asp1608Tyr SP substitution exon 1 VAR_064321 P35498:p.Val1630Met SP substitution exon 1 VAR_064322 P35498:p.Leu1649Gln SP substitution exon 1 VAR_064323 P35498:p.Thr1658Arg SP substitution exon 1 VAR_064324 P35498:p.Phe1687Ser SP substitution exon 1 VAR_064325 P35498:p.Ser1713Asn SP substitution exon 1 VAR_064326 P35498:p.Met1714Arg SP substitution exon 1 VAR_064327 P35498:p.Cys1716Arg SP substitution exon 1 VAR_064328 P35498:p.Gly1762Glu SP substitution exon 1 VAR_064329 P35498:p.Ser1773Phe SP substitution exon 1 VAR_064330 P35498:p.Glu1787Lys SP substitution exon 1 VAR_064331 Q99250:p.Phe328Val SP substitution exon 1 VAR_064332 P22681:p.Gln367Pro SP substitution exon 1 VAR_064333 P22681:p.Lys382Glu SP substitution exon 1 VAR_064334 P22681:p.Asp390Tyr SP substitution exon 1 VAR_064335 P22681:p.Arg420Gln SP substitution exon 1 VAR_064336 Q9BZV3:p.Phe124Leu SP substitution exon 1 VAR_064337 Q9Y5Z9:p.Ala97Thr SP substitution exon 1 VAR_064338 Q9Y5Z9:p.Gly98Ser SP substitution exon 1 VAR_064339 Q9Y5Z9:p.Asp112Asn SP substitution exon 1 VAR_064340 Q9Y5Z9:p.Val122Glu SP substitution exon 1 VAR_064341 Q9Y5Z9:p.Val122Gly SP substitution exon 1 VAR_064342 Q9Y5Z9:p.Leu188His SP substitution exon 1 VAR_064343 Q9Y5Z9:p.Asp240Asn SP substitution exon 1 VAR_064344 Q9BXM7:p.Gln126Pro SP substitution exon 1 VAR_064345 P35498:p.Ala1783Val SP substitution exon 1 VAR_064346 P35498:p.Asp79His SP substitution exon 1 VAR_064347 P35498:p.Thr199Arg SP substitution exon 1 VAR_064348 P35498:p.Ala1441Pro SP substitution exon 1 VAR_064349 P35498:p.Phe1707Val SP substitution exon 1 VAR_064350 P35498:p.Thr1721Arg SP substitution exon 1 VAR_064351 P35498:p.Ile1922Thr SP substitution exon 1 VAR_064352 Q8IXK2:p.Gly3Glu SP substitution exon 1 VAR_064353 Q8IXK2:p.Gly46Arg SP substitution exon 1 VAR_064354 Q8IXK2:p.Glu119Val SP substitution exon 1 VAR_064355 Q8IXK2:p.Asp261Asn SP substitution exon 1 VAR_064356 Q8IXK2:p.Gly272Arg SP substitution exon 1 VAR_064357 Q8IXK2:p.Arg297Trp SP substitution exon 1 VAR_064358 Q8IXK2:p.Asp303Asn SP substitution exon 1 VAR_064359 Q8IXK2:p.Glu341Asp SP substitution exon 1 VAR_064360 Q8IXK2:p.Arg373His SP substitution exon 1 VAR_064361 Q8IXK2:p.Arg382His SP substitution exon 1 VAR_064362 Q8IXK2:p.Cys479Phe SP substitution exon 1 VAR_064363 Q8IXK2:p.Thr491Met SP substitution exon 1 VAR_064364 Q8IXK2:p.Arg552Lys SP substitution exon 1 VAR_064365 Q9ULP9:p.Asp147His SP substitution exon 1 VAR_064366 Q9ULP9:p.Phe251Leu SP substitution exon 1 VAR_064368 Q96S19:p.Leu136Pro SP substitution exon 1 VAR_064369 Q7RTY9:p.Ser286Gly SP substitution exon 1 VAR_064370 O14686:p.Pro692Thr SP substitution exon 1 VAR_064371 O14686:p.Pro813Leu SP substitution exon 1 VAR_064372 O14686:p.Pro2382Ser SP substitution exon 1 VAR_064373 O14686:p.Arg2460Cys SP substitution exon 1 VAR_064374 O14686:p.Pro2557Leu SP substitution exon 1 VAR_064375 O14686:p.Met3398Val SP substitution exon 1 VAR_064376 O14686:p.Asp3419Gly SP substitution exon 1 VAR_064377 O14686:p.Arg4357Ser SP substitution exon 1 VAR_064378 O14686:p.Tyr5210Cys SP substitution exon 1 VAR_064379 O14686:p.Gly5428Asp SP substitution exon 1 VAR_064380 P98161:p.Asp97Gly SP substitution exon 1 VAR_064381 P98161:p.Cys436Arg SP substitution exon 1 VAR_064382 P98161:p.Ala442Pro SP substitution exon 1 VAR_064383 P98161:p.Leu727Pro SP substitution exon 1 VAR_064384 P98161:p.Leu727Arg SP substitution exon 1 VAR_064385 P98161:p.Gly2391Asp SP substitution exon 1 VAR_064386 P98161:p.Arg2434Trp SP substitution exon 1 VAR_064387 P98161:p.His2546Tyr SP substitution exon 1 VAR_064388 P98161:p.Ser2569Cys SP substitution exon 1 VAR_064389 P98161:p.Ile2646Thr SP substitution exon 1 VAR_064390 P98161:p.Ser2889Arg SP substitution exon 1 VAR_064391 P98161:p.Leu3154Pro SP substitution exon 1 VAR_064392 P98161:p.Trp3603Arg SP substitution exon 1 VAR_064393 P98161:p.Arg3750Gln SP substitution exon 1 VAR_064394 Q13563:p.Ala384Pro SP substitution exon 1 VAR_064395 P55316:p.Pro109Leu SP substitution exon 1 VAR_064396 P55316:p.Arg244Cys SP substitution exon 1 VAR_064397 O15078:p.Glu277Gln SP substitution exon 1 VAR_064398 O15078:p.Asp664Gly SP substitution exon 1 VAR_064402 Q9Y4W6:p.Thr654Ile SP substitution exon 1 VAR_064403 Q9Y4W6:p.Met666Arg SP substitution exon 1 VAR_064404 Q9Y4W6:p.Met666Thr SP substitution exon 1 VAR_064405 Q9Y4W6:p.Met666Val SP substitution exon 1 VAR_064406 Q9Y4W6:p.Gly671Glu SP substitution exon 1 VAR_064407 Q9Y4W6:p.Gly671Arg SP substitution exon 1 VAR_064408 Q9Y4W6:p.Glu700Lys SP substitution exon 1 VAR_064409 O43462:p.Asn508Ser SP substitution exon 1 VAR_064410 Q9UPI3:p.Arg84His SP substitution exon 1 VAR_064412 Q9UPI3:p.Ala326Val SP substitution exon 1 VAR_064413 Q9UPI3:p.Thr352Arg SP substitution exon 1 VAR_064414 Q9UPI3:p.Gly412Arg SP substitution exon 1 VAR_064415 Q9UPI3:p.Thr430Met SP substitution exon 1 VAR_064416 P43026:p.Arg399Cys SP substitution exon 1 VAR_064417 Q5T1H1:p.Trp1484Arg SP substitution exon 1 VAR_064418 Q5T1H1:p.Gly2017Val SP substitution exon 1 VAR_064421 Q8TF17:p.Tyr169His SP substitution exon 1 VAR_064422 Q8NBS3:p.Glu167Asp SP substitution exon 1 VAR_064423 Q8NBS3:p.Arg282Pro SP substitution exon 1 VAR_064424 Q8NBS3:p.Tyr526Cys SP substitution exon 1 VAR_064425 Q8NBS3:p.Val575Met SP substitution exon 1 VAR_064426 Q8NBS3:p.Gly583Asp SP substitution exon 1 VAR_064427 Q8NBS3:p.Gly742Arg SP substitution exon 1 VAR_064428 Q8NBS3:p.Gly834Ser SP substitution exon 1 VAR_064429 P46527:p.Pro69Leu SP substitution exon 1 VAR_064430 P54803:p.Ala21Pro SP substitution exon 1 VAR_064431 P54803:p.Gly41Ser SP substitution exon 1 VAR_064432 P54803:p.Glu130Lys SP substitution exon 1 VAR_064433 P54803:p.Pro318Arg SP substitution exon 1 VAR_064434 P54803:p.Gly323Arg SP substitution exon 1 VAR_064435 P54803:p.Ile384Thr SP substitution exon 1 VAR_064436 P54803:p.Arg396Leu SP substitution exon 1 VAR_064438 Q9HAT2:p.Ala3Gly SP substitution exon 1 VAR_064439 Q9HAT2:p.Asn33Ser SP substitution exon 1 VAR_064440 Q9HAT2:p.Arg62His SP substitution exon 1 VAR_064441 Q9HAT2:p.Gly64Ser SP substitution exon 1 VAR_064442 Q9HAT2:p.Met89Val SP substitution exon 1 VAR_064443 Q9HAT2:p.Gln161Lys SP substitution exon 1 VAR_064444 Q9HAT2:p.Cys196Phe SP substitution exon 1 VAR_064445 Q9HAT2:p.Gly212Arg SP substitution exon 1 VAR_064446 Q9HAT2:p.Arg230Trp SP substitution exon 1 VAR_064447 Q9HAT2:p.Cys266Gly SP substitution exon 1 VAR_064448 Q9HAT2:p.Gln309Pro SP substitution exon 1 VAR_064449 Q9HAT2:p.Thr312Met SP substitution exon 1 VAR_064450 Q9HAT2:p.Arg314His SP substitution exon 1 VAR_064451 Q9HAT2:p.Tyr349Cys SP substitution exon 1 VAR_064452 Q9HAT2:p.Arg393His SP substitution exon 1 VAR_064453 Q9HAT2:p.Lys400Asn SP substitution exon 1 VAR_064454 Q9HAT2:p.Phe404Ser SP substitution exon 1 VAR_064455 Q9HAT2:p.His447Arg SP substitution exon 1 VAR_064456 Q9HAT2:p.Met456Ile SP substitution exon 1 VAR_064457 Q9HAT2:p.Gln462Arg SP substitution exon 1 VAR_064458 Q9HAT2:p.Arg479Cys SP substitution exon 1 VAR_064466 P56715:p.Ile408Leu SP substitution exon 1 VAR_064467 P56715:p.Lys663Asn SP substitution exon 1 VAR_064468 P56715:p.Ala669Thr SP substitution exon 1 VAR_064469 P56715:p.Gly706Arg SP substitution exon 1 VAR_064470 P56715:p.Cys727Trp SP substitution exon 1 VAR_064471 P56715:p.Asp984Gly SP substitution exon 1 VAR_064472 P56715:p.Lys1370Glu SP substitution exon 1 VAR_064473 P56715:p.Arg1652Leu SP substitution exon 1 VAR_064474 P56715:p.Leu1808Pro SP substitution exon 1 VAR_064475 O14896:p.Arg84Leu SP substitution exon 1 VAR_064477 Q9HAR2:p.Ala247Ser SP substitution exon 1 VAR_064478 Q9HAR2:p.Thr770Met SP substitution exon 1 VAR_064480 O00755:p.Arg222Trp SP substitution exon 1 VAR_064481 Q8TAB3:p.Asp121Asn SP substitution exon 1 VAR_064482 Q8TAB3:p.Glu199Gln SP substitution exon 1 VAR_064483 Q8TAB3:p.His203Pro SP substitution exon 1 VAR_064484 Q8TAB3:p.Phe206Cys SP substitution exon 1 VAR_064485 Q8TAB3:p.Ser276Pro SP substitution exon 1 VAR_064486 Q8TAB3:p.Asn340Ser SP substitution exon 1 VAR_064487 Q8TAB3:p.Asp377His SP substitution exon 1 VAR_064488 Q8TAB3:p.Thr404Ile SP substitution exon 1 VAR_064489 Q8TAB3:p.Glu414Gln SP substitution exon 1 VAR_064490 Q8TAB3:p.Leu543Pro SP substitution exon 1 VAR_064491 Q8TAB3:p.Arg958Gln SP substitution exon 1 VAR_064492 Q8TAB3:p.Arg1107Gly SP substitution exon 1 VAR_064493 P02462:p.Gly498Arg SP substitution exon 1 VAR_064494 P02462:p.Gly510Arg SP substitution exon 1 VAR_064495 P02462:p.Gly525Leu SP substitution exon 1 VAR_064496 P02462:p.Gly720Asp SP substitution exon 1 VAR_064497 P02462:p.Gly755Arg SP substitution exon 1 VAR_064498 P02462:p.Gly805Arg SP substitution exon 1 VAR_064499 P02462:p.Gly1580Arg SP substitution exon 1 VAR_064500 Q6P1M0:p.Arg374Cys SP substitution exon 1 VAR_064501 O75844:p.Pro248Leu SP substitution exon 1 VAR_064502 O75844:p.Asn265Ser SP substitution exon 1 VAR_064504 Q07889:p.Met269Thr SP substitution exon 1 VAR_064505 Q07889:p.Gln477Arg SP substitution exon 1 VAR_064506 Q07889:p.Arg497Gln SP substitution exon 1 VAR_064507 Q06787:p.Arg138Gln SP substitution exon 1 VAR_064508 Q9BUM1:p.Met116Lys SP substitution exon 1 VAR_064509 Q9BUM1:p.Met116Val SP substitution exon 1 VAR_064510 Q9BUM1:p.Arg189Gln SP substitution exon 1 VAR_064511 Q9BUM1:p.Gly260Arg SP substitution exon 1 VAR_064512 P08246:p.Ala25Val SP substitution exon 1 VAR_064513 P08246:p.Ala166Thr SP substitution exon 1 VAR_064514 O00165:p.Leu130Arg SP substitution exon 1 VAR_064515 O00165:p.Val172Ile SP substitution exon 1 VAR_064516 P62736:p.Arg179His SP substitution exon 1 VAR_064517 Q9HBA0:p.Thr89Ile SP substitution exon 1 VAR_064518 Q9HBA0:p.Glu183Lys SP substitution exon 1 VAR_064519 Q9HBA0:p.Lys197Arg SP substitution exon 1 VAR_064520 Q9HBA0:p.Leu199Phe SP substitution exon 1 VAR_064521 Q9HBA0:p.Glu278Lys SP substitution exon 1 VAR_064522 Q9HBA0:p.Thr295Ala SP substitution exon 1 VAR_064523 Q9HBA0:p.Ile331Thr SP substitution exon 1 VAR_064524 Q9HBA0:p.Val342Phe SP substitution exon 1 VAR_064526 Q9HBA0:p.Phe592Leu SP substitution exon 1 VAR_064527 Q9HBA0:p.Leu596Pro SP substitution exon 1 VAR_064528 Q9HBA0:p.Gly600Trp SP substitution exon 1 VAR_064529 Q9HBA0:p.Tyr602Cys SP substitution exon 1 VAR_064530 Q9HBA0:p.Ile604Met SP substitution exon 1 VAR_064531 Q9HBA0:p.Phe617Leu SP substitution exon 1 VAR_064532 Q9HBA0:p.Leu618Pro SP substitution exon 1 VAR_064533 Q9HBA0:p.Met625Ile SP substitution exon 1 VAR_064534 Q9HBA0:p.Leu709Met SP substitution exon 1 VAR_064535 Q9HBA0:p.Arg775Lys SP substitution exon 1 VAR_064536 Q9HBA0:p.Cys777Tyr SP substitution exon 1 VAR_064537 Q9HBA0:p.Glu797Lys SP substitution exon 1 VAR_064538 Q9HBA0:p.Pro799Ala SP substitution exon 1 VAR_064539 Q9HBA0:p.Pro799Arg SP substitution exon 1 VAR_064540 Q9HBA0:p.Pro799Ser SP substitution exon 1 VAR_064541 Q13253:p.Cys232Trp SP substitution exon 1 VAR_064542 Q14683:p.Arg711Gln SP substitution exon 1 VAR_064543 Q14683:p.Ile784Thr SP substitution exon 1 VAR_064545 Q6KC79:p.Gly2081Ala SP substitution exon 1 VAR_064546 Q6KC79:p.Ser2090Ile SP substitution exon 1 VAR_064547 Q6KC79:p.Leu2150Pro SP substitution exon 1 VAR_064549 C9JE40:p.Met88Leu SP substitution exon 1 VAR_064554 Q9UEF7:p.His193Arg SP substitution exon 1 VAR_064555 Q8NCH0:p.Pro281Leu SP substitution exon 1 VAR_064556 Q8NCH0:p.Cys289Ser SP substitution exon 1 VAR_064569 O43920:p.Pro96Ser SP substitution exon 1 VAR_064570 Q8TB37:p.Gly56Arg SP substitution exon 1 VAR_064573 P21397:p.Glu188Lys SP substitution exon 1 VAR_064574 P41595:p.Gln45Glu SP substitution exon 1 VAR_064575 P41595:p.Phe173Leu SP substitution exon 1 VAR_064576 P41595:p.Arg388Trp SP substitution exon 1 VAR_064577 P21728:p.Lys81Arg SP substitution exon 1 VAR_064578 P21728:p.Ser259Tyr SP substitution exon 1 VAR_064580 Q01959:p.Val471Ile SP substitution exon 1 VAR_064581 Q9P2L0:p.Glu626Gly SP substitution exon 1 VAR_064582 Q9P2L0:p.Ala875Thr SP substitution exon 1 VAR_064583 Q92610:p.Gly1046Arg SP substitution exon 1 VAR_064584 Q9Y493:p.Leu16Phe SP substitution exon 1 VAR_064585 Q9Y493:p.Gln430His SP substitution exon 1 VAR_064586 Q9Y493:p.Arg1922Cys SP substitution exon 1 VAR_064587 Q9Y493:p.Phe1969Leu SP substitution exon 1 VAR_064588 Q9Y493:p.Ser2035Thr SP substitution exon 1 VAR_064589 Q9Y493:p.Leu2111Pro SP substitution exon 1 VAR_064590 Q8TBK2:p.Arg185Ser SP substitution exon 1 VAR_064591 Q8TBK2:p.Arg206Gly SP substitution exon 1 VAR_064615 Q9Y276:p.Thr50Ala SP substitution exon 1 VAR_064616 Q9Y276:p.Arg73Cys SP substitution exon 1 VAR_064617 Q9Y276:p.Arg183Cys SP substitution exon 1 VAR_064618 Q9Y276:p.Phe368Ile SP substitution exon 1 VAR_064619 Q9NRD8:p.Gly1518Ser SP substitution exon 1 VAR_064621 Q7L5A8:p.Arg235Cys SP substitution exon 1 VAR_064625 P28799:p.Arg19Trp SP substitution exon 1 VAR_064626 P28799:p.Arg55Trp SP substitution exon 1 VAR_064627 P28799:p.Ala69Thr SP substitution exon 1 VAR_064629 P28799:p.Ser120Tyr SP substitution exon 1 VAR_064630 P28799:p.Thr182Met SP substitution exon 1 VAR_064631 P28799:p.Cys221Ser SP substitution exon 1 VAR_064632 P28799:p.Pro275Leu SP substitution exon 1 VAR_064633 P28799:p.Asp376Asn SP substitution exon 1 VAR_064634 P28799:p.Ser398Leu SP substitution exon 1 VAR_064635 P28799:p.Arg433Gln SP substitution exon 1 VAR_064636 P28799:p.Arg564His SP substitution exon 1 VAR_064637 P51798:p.Leu132Pro SP substitution exon 1 VAR_064638 P51798:p.Asn214Ser SP substitution exon 1 VAR_064640 P51798:p.Phe318Leu SP substitution exon 1 VAR_064641 P51798:p.Arg403Gln SP substitution exon 1 VAR_064642 P51798:p.Gly521Arg SP substitution exon 1 VAR_064643 P51798:p.Arg526Gln SP substitution exon 1 VAR_064644 P51798:p.Leu549Pro SP substitution exon 1 VAR_064645 P51798:p.Leu651Pro SP substitution exon 1 VAR_064646 P51798:p.Phe758Leu SP substitution exon 1 VAR_064647 P51798:p.Arg762Trp SP substitution exon 1 VAR_064648 P51798:p.Arg767Pro SP substitution exon 1 VAR_064653 Q86U86:p.Val49Leu SP substitution exon 1 VAR_064654 Q86U86:p.Thr56Ala SP substitution exon 1 VAR_064656 Q86U86:p.Arg66Gly SP substitution exon 1 VAR_064657 Q86U86:p.Gln90Glu SP substitution exon 1 VAR_064658 Q86U86:p.Tyr144Phe SP substitution exon 1 VAR_064659 Q86U86:p.Glu160Ala SP substitution exon 1 VAR_064660 Q86U86:p.Arg202Cys SP substitution exon 1 VAR_064661 Q86U86:p.Glu206Lys SP substitution exon 1 VAR_064662 Q86U86:p.Glu226Gly SP substitution exon 1 VAR_064663 Q86U86:p.Ile228Val SP substitution exon 1 VAR_064664 Q86U86:p.Thr232Pro SP substitution exon 1 VAR_064665 Q86U86:p.Ile233Thr SP substitution exon 1 VAR_064666 Q86U86:p.Ala256Thr SP substitution exon 1 VAR_064667 Q86U86:p.Gly340Ala SP substitution exon 1 VAR_064668 Q86U86:p.Met523Ile SP substitution exon 1 VAR_064669 Q86U86:p.Arg540Ser SP substitution exon 1 VAR_064670 Q86U86:p.Ala597Asp SP substitution exon 1 VAR_064671 Q86U86:p.Lys621Glu SP substitution exon 1 VAR_064672 Q86U86:p.Lys661Asn SP substitution exon 1 VAR_064673 Q86U86:p.Asp674Glu SP substitution exon 1 VAR_064674 Q86U86:p.Arg678Cys SP substitution exon 1 VAR_064675 Q86U86:p.Tyr893Cys SP substitution exon 1 VAR_064676 Q86U86:p.Thr895Ser SP substitution exon 1 VAR_064677 Q86U86:p.Glu922Gln SP substitution exon 1 VAR_064678 Q86U86:p.Lys925Gln SP substitution exon 1 VAR_064679 Q86U86:p.Pro1079Tyr SP substitution exon 1 VAR_064680 Q86U86:p.Ala1098Ser SP substitution exon 1 VAR_064681 Q86U86:p.Arg1120Gln SP substitution exon 1 VAR_064682 Q86U86:p.Gly1177Ser SP substitution exon 1 VAR_064683 Q86U86:p.His1204Pro SP substitution exon 1 VAR_064685 Q86U86:p.Glu1287Gln SP substitution exon 1 VAR_064686 Q86U86:p.Gly1414Glu SP substitution exon 1 VAR_064687 Q86U86:p.Gly1503Cys SP substitution exon 1 VAR_064688 Q86U86:p.Gln1560His SP substitution exon 1 VAR_064689 Q86U86:p.Ile1614Asn SP substitution exon 1 VAR_064690 Q86U86:p.Arg1647Cys SP substitution exon 1 VAR_064691 Q8WYK0:p.Leu190His SP substitution exon 1 VAR_064692 P27037:p.Ala367Thr SP substitution exon 1 VAR_064693 Q9UHB7:p.Ser757Thr SP substitution exon 1 VAR_064694 Q14155:p.Thr790Ala SP substitution exon 1 VAR_064695 O14497:p.Arg1020Lys SP substitution exon 1 VAR_064697 Q96NS5:p.Thr173Pro SP substitution exon 1 VAR_064699 O75129:p.Ala229Val SP substitution exon 1 VAR_064700 Q13936:p.Ser878Arg SP substitution exon 1 VAR_064701 A8MTB9:p.Ala14Pro SP substitution exon 1 VAR_064702 P20908:p.Pro908Leu SP substitution exon 1 VAR_064703 Q7Z407:p.Ser2020Cys SP substitution exon 1 VAR_064704 O60494:p.Ser3258Gly SP substitution exon 1 VAR_064705 P35556:p.Glu2062Val SP substitution exon 1 VAR_064707 Q86TM3:p.Asn141Thr SP substitution exon 1 VAR_064708 O14641:p.Ile282Thr SP substitution exon 1 VAR_064709 O14576:p.His373Leu SP substitution exon 1 VAR_064710 P23588:p.Pro203Arg SP substitution exon 1 VAR_064711 Q9Y227:p.Ile341Val SP substitution exon 1 VAR_064712 Q9NXK8:p.Leu63His SP substitution exon 1 VAR_064713 Q9NVF7:p.Pro345His SP substitution exon 1 VAR_064714 Q9NZU0:p.Ile452Val SP substitution exon 1 VAR_064715 Q17RS7:p.Cys766Arg SP substitution exon 1 VAR_064716 Q15743:p.Asn39Ser SP substitution exon 1 VAR_064717 O15488:p.Gly194Arg SP substitution exon 1 VAR_064718 Q9H116:p.Ala97Val SP substitution exon 1 VAR_064719 Q9UKV0:p.Pro921Thr SP substitution exon 1 VAR_064720 Q9NRZ9:p.His616Arg SP substitution exon 1 VAR_064721 A8MVW5:p.Phe114Leu SP substitution exon 1 VAR_064723 O00458:p.Gln39Lys SP substitution exon 1 VAR_064725 Q9P2N7:p.Phe223Ile SP substitution exon 1 VAR_064726 P35900:p.Gly214Cys SP substitution exon 1 VAR_064727 P98164:p.Cys103Arg SP substitution exon 1 VAR_064729 Q5I0G3:p.Leu48Ile SP substitution exon 1 VAR_064730 Q8N6R0:p.Tyr16Cys SP substitution exon 1 VAR_064731 Q8N3J2:p.Ser42Phe SP substitution exon 1 VAR_064733 P42345:p.Leu2220Phe SP substitution exon 1 VAR_064734 P42345:p.Val2406Ala SP substitution exon 1 VAR_064735 P12882:p.Gln1566Lys SP substitution exon 1 VAR_064736 O15294:p.Leu538Pro SP substitution exon 1 VAR_064737 Q9Y6X6:p.Leu1168His SP substitution exon 1 VAR_064738 O60934:p.Tyr679His SP substitution exon 1 VAR_064739 A3KFT3:p.His244Asn SP substitution exon 1 VAR_064741 Q8NGY3:p.Val216Met SP substitution exon 1 VAR_064742 Q8NGQ2:p.Phe172Ile SP substitution exon 1 VAR_064743 Q00537:p.Thr214Ile SP substitution exon 1 VAR_064744 P51160:p.Ile826Ser SP substitution exon 1 VAR_064745 Q15054:p.Gly194Val SP substitution exon 1 VAR_064746 Q15054:p.Met195Leu SP substitution exon 1 VAR_064747 P49768:p.Tyr315Cys SP substitution exon 1 VAR_064748 Q9Y5Y9:p.Arg916Trp SP substitution exon 1 VAR_064749 Q14563:p.Pro396Ser SP substitution exon 1 VAR_064751 Q9NYZ4:p.Val282Leu SP substitution exon 1 VAR_064752 Q8N4M1:p.Gly441Trp SP substitution exon 1 VAR_064753 Q9GZN6:p.Glu236Lys SP substitution exon 1 VAR_064754 Q8WY07:p.Met356Lys SP substitution exon 1 VAR_064755 Q8IYR2:p.Ala601Pro SP substitution exon 1 VAR_064756 P38567:p.Lys5Gln SP substitution exon 1 VAR_064757 Q07283:p.Arg1400Pro SP substitution exon 1 VAR_064758 O14836:p.His56Asn SP substitution exon 1 VAR_064759 O94900:p.Ala267Thr SP substitution exon 1 VAR_064760 O00295:p.Val149Ile SP substitution exon 1 VAR_064761 O75445:p.Thr453Ile SP substitution exon 1 VAR_064762 P31946:p.Val99Ile SP substitution exon 1 VAR_064766 Q9BQ04:p.Glu93Val SP substitution exon 1 VAR_064767 Q5SRD3:p.Gln567His SP substitution exon 1 VAR_064769 Q7Z4U5:p.Asn117Lys SP substitution exon 1 VAR_064770 O95876:p.Arg55Lys SP substitution exon 1 VAR_064771 O95876:p.Leu205Phe SP substitution exon 1 VAR_064773 Q01968:p.Phe242Ser SP substitution exon 1 VAR_064774 Q01968:p.Ile274Thr SP substitution exon 1 VAR_064775 Q01968:p.Gln277Arg SP substitution exon 1 VAR_064776 Q01968:p.Arg337Cys SP substitution exon 1 VAR_064777 Q01968:p.Asn354His SP substitution exon 1 VAR_064778 Q01968:p.Arg361Ile SP substitution exon 1 VAR_064779 Q01968:p.Asn373Tyr SP substitution exon 1 VAR_064780 Q01968:p.Ser374Phe SP substitution exon 1 VAR_064781 Q01968:p.His414Arg SP substitution exon 1 VAR_064782 Q01968:p.Asp451Asn SP substitution exon 1 VAR_064783 Q01968:p.Arg457Gly SP substitution exon 1 VAR_064784 Q01968:p.Glu468Gly SP substitution exon 1 VAR_064785 Q01968:p.Glu468Lys SP substitution exon 1 VAR_064786 Q01968:p.Arg493Trp SP substitution exon 1 VAR_064787 Q01968:p.Pro495Leu SP substitution exon 1 VAR_064788 Q01968:p.Asp499His SP substitution exon 1 VAR_064789 Q01968:p.Trp503Arg SP substitution exon 1 VAR_064790 Q01968:p.Asn591Lys SP substitution exon 1 VAR_064792 Q01968:p.Pro799Leu SP substitution exon 1 VAR_064793 Q01968:p.Pro801Leu SP substitution exon 1 VAR_064794 Q01968:p.Leu891Arg SP substitution exon 1 VAR_064795 Q495M3:p.Gly87Val SP substitution exon 1 VAR_064796 Q96N87:p.Gly79Ser SP substitution exon 1 VAR_064797 Q96N87:p.Gly496Arg SP substitution exon 1 VAR_064798 O15270:p.Val359Met SP substitution exon 1 VAR_064799 O15270:p.Gly382Val SP substitution exon 1 VAR_064800 O15270:p.Ile504Phe SP substitution exon 1 VAR_064801 Q9NZJ4:p.Asp168Tyr SP substitution exon 1 VAR_064802 Q9NZJ4:p.Thr201Lys SP substitution exon 1 VAR_064803 Q9NZJ4:p.Leu308Phe SP substitution exon 1 VAR_064804 Q9NZJ4:p.Leu556Pro SP substitution exon 1 VAR_064805 Q9NZJ4:p.Leu802Pro SP substitution exon 1 VAR_064806 Q9NZJ4:p.Cys991Arg SP substitution exon 1 VAR_064807 Q9NZJ4:p.Phe1054Ser SP substitution exon 1 VAR_064808 Q9NZJ4:p.Met1311Lys SP substitution exon 1 VAR_064809 Q9NZJ4:p.Arg1575Pro SP substitution exon 1 VAR_064810 Q9NZJ4:p.His1587Arg SP substitution exon 1 VAR_064811 Q9NZJ4:p.Trp1946Arg SP substitution exon 1 VAR_064813 Q9NZJ4:p.Arg2703Cys SP substitution exon 1 VAR_064814 Q9NZJ4:p.Pro2798Gln SP substitution exon 1 VAR_064816 Q9NZJ4:p.Trp3248Arg SP substitution exon 1 VAR_064817 Q9NZJ4:p.Leu3481Pro SP substitution exon 1 VAR_064818 Q9NZJ4:p.Arg3636Gln SP substitution exon 1 VAR_064819 Q9NZJ4:p.Leu3645Pro SP substitution exon 1 VAR_064820 Q9NZJ4:p.Pro3652Thr SP substitution exon 1 VAR_064821 Q9NZJ4:p.Phe3653Ser SP substitution exon 1 VAR_064822 Q9NZJ4:p.Ala4074Pro SP substitution exon 1 VAR_064823 Q9NZJ4:p.Arg4331Gln SP substitution exon 1 VAR_064824 Q9NZJ4:p.Glu4343Lys SP substitution exon 1 VAR_064827 Q7Z699:p.Trp31Cys SP substitution exon 1 VAR_064828 Q7Z699:p.Val44Asp SP substitution exon 1 VAR_064829 P07320:p.Trp43Arg SP substitution exon 1 VAR_064830 Q9UNE0:p.Arg98Gln SP substitution exon 1 VAR_064831 Q9UNE0:p.Arg358Gln SP substitution exon 1 VAR_064833 Q9UNE0:p.Ile408Phe SP substitution exon 1 VAR_064834 Q9UNE0:p.Trp434Arg SP substitution exon 1 VAR_064835 Q8WWZ3:p.Asp114Tyr SP substitution exon 1 VAR_064837 Q9GZT5:p.His143Tyr SP substitution exon 1 VAR_064838 Q9GZT5:p.Val145Met SP substitution exon 1 VAR_064839 Q9GZT5:p.Arg360Cys SP substitution exon 1 VAR_064840 Q8TAB3:p.Leu81Arg SP substitution exon 1 VAR_064842 Q8TAB3:p.Thr146Arg SP substitution exon 1 VAR_064843 Q8TAB3:p.Phe206Tyr SP substitution exon 1 VAR_064844 Q8TAB3:p.Glu249Asp SP substitution exon 1 VAR_064845 Q8TAB3:p.Asp341Glu SP substitution exon 1 VAR_064846 Q8TAB3:p.Pro561Arg SP substitution exon 1 VAR_064847 Q8TAB3:p.Pro567Leu SP substitution exon 1 VAR_064848 Q8TAB3:p.Asp618Asn SP substitution exon 1 VAR_064849 P01116:p.Lys5Asn SP substitution exon 1 VAR_064850 P01116:p.Gln22Glu SP substitution exon 1 VAR_064851 P01116:p.Gln22Arg SP substitution exon 1 VAR_064852 P01116:p.Pro34Leu SP substitution exon 1 VAR_064853 P01116:p.Pro34Gln SP substitution exon 1 VAR_064854 P01116:p.Ile36Met SP substitution exon 1 VAR_064855 P08581:p.His150Tyr SP substitution exon 1 VAR_064856 P08581:p.Cys385Tyr SP substitution exon 1 VAR_064858 Q92838:p.Arg156Gly SP substitution exon 1 VAR_064860 Q92838:p.Gly207Val SP substitution exon 1 VAR_064861 Q92838:p.Thr211Arg SP substitution exon 1 VAR_064862 Q92838:p.Leu266Arg SP substitution exon 1 VAR_064863 Q92838:p.Trp274Arg SP substitution exon 1 VAR_064864 Q92838:p.Leu293Pro SP substitution exon 1 VAR_064865 Q92838:p.Leu296Val SP substitution exon 1 VAR_064866 Q92838:p.Gly299Asp SP substitution exon 1 VAR_064867 Q92838:p.Val323Gly SP substitution exon 1 VAR_064868 Q92838:p.Thr338Met SP substitution exon 1 VAR_064869 Q92838:p.Cys346Tyr SP substitution exon 1 VAR_064870 Q92838:p.Ala356Val SP substitution exon 1 VAR_064871 Q92838:p.Gly381Arg SP substitution exon 1 VAR_064872 Q96NR3:p.Leu73Phe SP substitution exon 1 VAR_064873 Q96NR3:p.Ile173Val SP substitution exon 1 VAR_064874 Q96NR3:p.Val195Ile SP substitution exon 1 VAR_064875 Q96NR3:p.Pro251Leu SP substitution exon 1 VAR_064877 Q96NR3:p.His359Arg SP substitution exon 1 VAR_064878 Q96NR3:p.Ala470Asp SP substitution exon 1 VAR_064879 Q96NR3:p.Glu479Gly SP substitution exon 1 VAR_064880 Q96NR3:p.Asn497Lys SP substitution exon 1 VAR_064881 Q8NB50:p.Met34Ile SP substitution exon 1 VAR_064882 Q8NB50:p.Arg698Lys SP substitution exon 1 VAR_064883 O43272:p.Pro8Leu SP substitution exon 1 VAR_064884 O43272:p.Gln19Pro SP substitution exon 1 VAR_064885 O43272:p.Pro30Ser SP substitution exon 1 VAR_064886 O43272:p.Ala58Thr SP substitution exon 1 VAR_064888 Q9NW15:p.Leu510Arg SP substitution exon 1 VAR_064889 C9JR72:p.Arg248Ser SP substitution exon 1 VAR_064890 C9JR72:p.Lys390Asn SP substitution exon 1 VAR_064891 C9JR72:p.Arg408Cys SP substitution exon 1 VAR_064892 Q9Y2S0:p.Glu47Lys SP substitution exon 1 VAR_064893 Q9Y2S0:p.Thr50Ile SP substitution exon 1 VAR_064894 Q9Y2S0:p.Leu51Arg SP substitution exon 1 VAR_064895 Q9Y2S0:p.Gly52Glu SP substitution exon 1 VAR_064896 Q9Y2S0:p.Arg56Cys SP substitution exon 1 VAR_064897 Q9Y2S0:p.Leu82Ser SP substitution exon 1 VAR_064898 Q9Y2S0:p.Gly99Ser SP substitution exon 1 VAR_064899 O15160:p.Arg279Gln SP substitution exon 1 VAR_064900 O15160:p.Arg279Trp SP substitution exon 1 VAR_064901 Q13351:p.Glu325Lys SP substitution exon 1 VAR_064902 P49768:p.Asp333Gly SP substitution exon 1 VAR_064903 P49810:p.Ser130Leu SP substitution exon 1 VAR_064904 Q8IXL7:p.Cys89Gly SP substitution exon 1 VAR_064907 Q9NVV4:p.Asn478Asp SP substitution exon 1 VAR_064908 Q2TAA5:p.Leu86Ser SP substitution exon 1 VAR_064909 Q8WTV0:p.Pro297Ser SP substitution exon 1 VAR_064910 Q16625:p.Phe219Ser SP substitution exon 1 VAR_064911 Q15046:p.Leu105His SP substitution exon 1 VAR_064912 Q15046:p.Ile274Met SP substitution exon 1 VAR_064913 P01213:p.Arg138Ser SP substitution exon 1 VAR_064914 P01213:p.Leu211Ser SP substitution exon 1 VAR_064915 P01213:p.Arg212Trp SP substitution exon 1 VAR_064916 P01213:p.Arg215Cys SP substitution exon 1 VAR_064917 Q9H4I0:p.Cys90Arg SP substitution exon 1 VAR_064918 Q9H4I0:p.Ile152Leu SP substitution exon 1 VAR_064919 Q9H4I0:p.His423Pro SP substitution exon 1 VAR_064920 Q96GC6:p.Val147Ile SP substitution exon 1 VAR_064921 Q9BYE0:p.Arg25Trp SP substitution exon 1 VAR_064922 Q9BYE0:p.Ile58Val SP substitution exon 1 VAR_064923 Q9BYE0:p.Asp186Tyr SP substitution exon 1 VAR_064925 P04275:p.Cys1149Arg SP substitution exon 1 VAR_064926 Q8N8E2:p.Cys339Arg SP substitution exon 1 VAR_064927 Q6P1J9:p.Ala2Ser SP substitution exon 1 VAR_064929 Q6P1J9:p.Lys34Gln SP substitution exon 1 VAR_064930 Q6P1J9:p.Ser59Phe SP substitution exon 1 VAR_064931 Q6P1J9:p.Leu63Pro SP substitution exon 1 VAR_064932 Q6P1J9:p.Arg91Pro SP substitution exon 1 VAR_064933 Q6P1J9:p.Leu95Pro SP substitution exon 1 VAR_064934 Q6P1J9:p.Asn272Ser SP substitution exon 1 VAR_064935 Q6P1J9:p.Arg292Lys SP substitution exon 1 VAR_064936 Q6P1J9:p.Asp379Asn SP substitution exon 1 VAR_064937 O00255:p.Val220Phe SP substitution exon 1 VAR_064939 Q9UIF7:p.Arg179Cys SP substitution exon 1 VAR_064940 Q9UIF7:p.Arg182Trp SP substitution exon 1 VAR_064942 Q99502:p.Pro95Ser SP substitution exon 1 VAR_064943 Q99502:p.Gly140Ser SP substitution exon 1 VAR_064944 Q99502:p.Glu363Val SP substitution exon 1 VAR_064945 Q99502:p.Leu514Pro SP substitution exon 1 VAR_064946 Q99502:p.Tyr527Cys SP substitution exon 1 VAR_064947 Q99502:p.Met569Thr SP substitution exon 1 VAR_064948 Q15475:p.Val17Glu SP substitution exon 1 VAR_064949 Q15475:p.His73Pro SP substitution exon 1 VAR_064950 Q15475:p.Val106Gly SP substitution exon 1 VAR_064951 Q15475:p.Arg110Gln SP substitution exon 1 VAR_064952 Q15475:p.Arg112Cys SP substitution exon 1 VAR_064953 Q15475:p.Trp122Arg SP substitution exon 1 VAR_064954 Q15475:p.Pro249Leu SP substitution exon 1 VAR_064956 P22309:p.Ser191Phe SP substitution exon 1 VAR_064957 P22309:p.Asn279Tyr SP substitution exon 1 VAR_064958 P22309:p.Ile370Val SP substitution exon 1 VAR_064959 P22309:p.Pro387His SP substitution exon 1 VAR_064960 P22309:p.Lys402Thr SP substitution exon 1 VAR_064961 P22309:p.Leu443Pro SP substitution exon 1 VAR_064962 P02545:p.Arg189Pro SP substitution exon 1 VAR_064964 P02545:p.Phe206Leu SP substitution exon 1 VAR_064965 P02545:p.Ser268Pro SP substitution exon 1 VAR_064966 P02545:p.Leu271Pro SP substitution exon 1 VAR_064967 P02545:p.Ser295Pro SP substitution exon 1 VAR_064968 P02545:p.Ser303Pro SP substitution exon 1 VAR_064970 P02545:p.Glu361Lys SP substitution exon 1 VAR_064971 P02545:p.Gly449Asp SP substitution exon 1 VAR_064972 P02545:p.Leu454Pro SP substitution exon 1 VAR_064973 P02545:p.Asp461Tyr SP substitution exon 1 VAR_064974 P02545:p.Trp467Arg SP substitution exon 1 VAR_064975 P02545:p.Arg541Pro SP substitution exon 1 VAR_064976 P02545:p.Gly602Ser SP substitution exon 1 VAR_064977 P54845:p.Leu160Pro SP substitution exon 1 VAR_064978 Q8NBS3:p.Arg209Trp SP substitution exon 1 VAR_064979 Q8NBS3:p.Ser213Leu SP substitution exon 1 VAR_064980 Q8NBS3:p.Arg233Cys SP substitution exon 1 VAR_064981 Q8NBS3:p.Gly394Arg SP substitution exon 1 VAR_064982 Q8NBS3:p.Thr401Lys SP substitution exon 1 VAR_064983 Q8NBS3:p.Gly418Asp SP substitution exon 1 VAR_064984 Q8NBS3:p.Leu473Arg SP substitution exon 1 VAR_064985 Q8NBS3:p.Thr584Lys SP substitution exon 1 VAR_064986 Q01718:p.Arg137Pro SP substitution exon 1 VAR_064987 P35499:p.Arg1129Gln SP substitution exon 1 VAR_064988 O43511:p.Gly6Val SP substitution exon 1 VAR_064989 O43511:p.Thr99Met SP substitution exon 1 VAR_064990 O43511:p.Val144Ala SP substitution exon 1 VAR_064991 O43511:p.Arg185Thr SP substitution exon 1 VAR_064992 O43511:p.Val281Ile SP substitution exon 1 VAR_064993 O43511:p.Asn558Lys SP substitution exon 1 VAR_064994 Q02388:p.Gly1845Arg SP substitution exon 1 VAR_064995 Q02388:p.Lys1981Arg SP substitution exon 1 VAR_064996 Q02388:p.Arg2069Cys SP substitution exon 1 VAR_064997 Q02388:p.Gly2070Arg SP substitution exon 1 VAR_064998 Q02388:p.Gly2221Ala SP substitution exon 1 VAR_064999 Q02388:p.Gly2296Glu SP substitution exon 1 VAR_065000 Q02388:p.Gly2557Arg SP substitution exon 1 VAR_065001 Q02388:p.Arg2622Trp SP substitution exon 1 VAR_065002 P19878:p.Asn42Ser SP substitution exon 1 VAR_065003 P19878:p.Gly44Cys SP substitution exon 1 VAR_065004 P19878:p.Gly44Arg SP substitution exon 1 VAR_065006 P19878:p.Met79Val SP substitution exon 1 VAR_065007 P19878:p.Asp93Glu SP substitution exon 1 VAR_065009 P19878:p.Arg102Pro SP substitution exon 1 VAR_065010 P19878:p.Asp108Val SP substitution exon 1 VAR_065011 P19878:p.Trp137Arg SP substitution exon 1 VAR_065012 P19878:p.Ala140Asp SP substitution exon 1 VAR_065013 P19878:p.Gln169Glu SP substitution exon 1 VAR_065014 P19878:p.Arg184Pro SP substitution exon 1 VAR_065016 P19878:p.Ala202Val SP substitution exon 1 VAR_065017 P19878:p.Gly369Arg SP substitution exon 1 VAR_065018 Q96FI4:p.Lys242Arg SP substitution exon 1 VAR_065021 Q8WZA1:p.Thr176Pro SP substitution exon 1 VAR_065022 Q8WZA1:p.Ser198Arg SP substitution exon 1 VAR_065023 Q8WZA1:p.Arg367His SP substitution exon 1 VAR_065024 Q8WZA1:p.Asp427His SP substitution exon 1 VAR_065027 Q9Y6A1:p.Gly65Arg SP substitution exon 1 VAR_065028 Q9Y6A1:p.Arg105Cys SP substitution exon 1 VAR_065029 Q9Y6A1:p.Arg105His SP substitution exon 1 VAR_065031 Q9Y6A1:p.Gly207Val SP substitution exon 1 VAR_065032 Q9Y6A1:p.Leu285Phe SP substitution exon 1 VAR_065033 Q9Y6A1:p.Arg522Lys SP substitution exon 1 VAR_065034 Q9Y6A1:p.Trp582Cys SP substitution exon 1 VAR_065035 Q9Y6A1:p.Gln590His SP substitution exon 1 VAR_065036 Q9Y6A1:p.Ala669Thr SP substitution exon 1 VAR_065037 Q9UKY4:p.Thr184Met SP substitution exon 1 VAR_065038 Q9UKY4:p.Ile198Asn SP substitution exon 1 VAR_065039 Q9UKY4:p.Gly246Asp SP substitution exon 1 VAR_065040 Q9UKY4:p.Gly353Ser SP substitution exon 1 VAR_065041 Q9UKY4:p.Val373Phe SP substitution exon 1 VAR_065042 Q9UKY4:p.Arg413Pro SP substitution exon 1 VAR_065050 O75072:p.Ala114Thr SP substitution exon 1 VAR_065051 O75072:p.Ala170Glu SP substitution exon 1 VAR_065052 O75072:p.Phe176Ser SP substitution exon 1 VAR_065053 O75072:p.Arg246Gly SP substitution exon 1 VAR_065055 Q9H9S5:p.Val79Met SP substitution exon 1 VAR_065056 Q9H9S5:p.Arg134Trp SP substitution exon 1 VAR_065057 Q9H9S5:p.Val160Phe SP substitution exon 1 VAR_065058 Q9H9S5:p.Tyr182Cys SP substitution exon 1 VAR_065059 Q9H9S5:p.Thr293Ile SP substitution exon 1 VAR_065060 Q9H9S5:p.Val300Ala SP substitution exon 1 VAR_065061 Q9H9S5:p.Val300Met SP substitution exon 1 VAR_065062 Q9H9S5:p.Pro358Leu SP substitution exon 1 VAR_065063 Q9H9S5:p.Asn463Asp SP substitution exon 1 VAR_065064 O95461:p.Ser331Phe SP substitution exon 1 VAR_065065 O95461:p.Trp495Arg SP substitution exon 1 VAR_065066 Q9NVC6:p.Leu371Pro SP substitution exon 1 VAR_065067 Q9H334:p.Ser5Pro SP substitution exon 1 VAR_065068 Q9H334:p.Met101Val SP substitution exon 1 VAR_065069 Q9H334:p.Pro215Ala SP substitution exon 1 VAR_065070 Q9H334:p.Ser261Pro SP substitution exon 1 VAR_065071 Q9H334:p.Thr390Ser SP substitution exon 1 VAR_065072 Q9H334:p.Val445Met SP substitution exon 1 VAR_065073 Q9H334:p.Asn570Ser SP substitution exon 1 VAR_065076 P0CW18:p.Arg176Gly SP substitution exon 1 VAR_065077 P0CW18:p.Trp309Ser SP substitution exon 1 VAR_065085 Q14204:p.His3822Pro SP substitution exon 1 VAR_065086 P25490:p.Asp380Tyr SP substitution exon 1 VAR_065087 Q96NL3:p.Leu178Phe SP substitution exon 1 VAR_065088 Q8NFQ5:p.Arg296His SP substitution exon 1 VAR_065089 O75398:p.Ile228Ser SP substitution exon 1 VAR_065090 Q96RK0:p.Arg492Trp SP substitution exon 1 VAR_065091 P41229:p.Cys640Tyr SP substitution exon 1 VAR_065092 P54098:p.Glu1136Lys SP substitution exon 1 VAR_065093 Q9H6U6:p.Asn87Ser SP substitution exon 1 VAR_065094 Q9UL36:p.Ile613Val SP substitution exon 1 VAR_065095 Q7Z7L9:p.Ser191Thr SP substitution exon 1 VAR_065096 O14529:p.Val1472Leu SP substitution exon 1 VAR_065097 P56180:p.Lys386Glu SP substitution exon 1 VAR_065098 P46439:p.Ala67Thr SP substitution exon 1 VAR_065099 P49023:p.Ser73Gly SP substitution exon 1 VAR_065100 P03971:p.Val515Ala SP substitution exon 1 VAR_065102 Q96RR1:p.Arg303Gln SP substitution exon 1 VAR_065103 Q96RR1:p.Trp315Ser SP substitution exon 1 VAR_065104 Q96RR1:p.Ala318Thr SP substitution exon 1 VAR_065105 Q96RR1:p.Arg334Pro SP substitution exon 1 VAR_065106 Q96RR1:p.Arg357Pro SP substitution exon 1 VAR_065107 Q96RR1:p.Leu360Gly SP substitution exon 1 VAR_065108 Q96RR1:p.Ala362Pro SP substitution exon 1 VAR_065109 Q96RR1:p.Trp363Leu SP substitution exon 1 VAR_065110 Q96RR1:p.Phe370Cys SP substitution exon 1 VAR_065111 Q96RR1:p.Phe370Leu SP substitution exon 1 VAR_065112 Q96RR1:p.Ser426Asn SP substitution exon 1 VAR_065113 Q96RR1:p.Gln458His SP substitution exon 1 VAR_065114 Q96RR1:p.Ala460Pro SP substitution exon 1 VAR_065115 Q96RR1:p.Trp474Ser SP substitution exon 1 VAR_065116 Q96RR1:p.Ala475Asp SP substitution exon 1 VAR_065117 Q96RR1:p.Phe478Ile SP substitution exon 1 VAR_065118 Q96RR1:p.Glu479Lys SP substitution exon 1 VAR_065119 P54098:p.Asp1186His SP substitution exon 1 VAR_065120 P53597:p.Met14Leu SP substitution exon 1 VAR_065121 P53597:p.Pro170Arg SP substitution exon 1 VAR_065122 Q7LG56:p.Arg110His SP substitution exon 1 VAR_065123 Q7LG56:p.Arg121His SP substitution exon 1 VAR_065124 Q13158:p.Cys105Trp SP substitution exon 1 VAR_065125 Q9HC21:p.Gly125Ser SP substitution exon 1 VAR_065128 P25445:p.Val249Leu SP substitution exon 1 VAR_065129 P25445:p.Gly253Asp SP substitution exon 1 VAR_065130 P25445:p.Gly253Ser SP substitution exon 1 VAR_065131 P25445:p.Ile259Arg SP substitution exon 1 VAR_065132 P25445:p.Thr270Lys SP substitution exon 1 VAR_065133 P25054:p.Ser1395Cys SP substitution exon 1 VAR_065134 P10914:p.Met8Leu SP substitution exon 1 VAR_065135 P10914:p.Trp11Arg SP substitution exon 1 VAR_065136 Q99612:p.Trp64Arg SP substitution exon 1 VAR_065137 Q99612:p.Ser116Pro SP substitution exon 1 VAR_065138 Q99612:p.Ala123Asp SP substitution exon 1 VAR_065139 Q99612:p.Ser155Arg SP substitution exon 1 VAR_065140 Q99612:p.Leu169Pro SP substitution exon 1 VAR_065141 Q99612:p.Pro172Thr SP substitution exon 1 VAR_065142 Q99612:p.Ser180Leu SP substitution exon 1 VAR_065143 Q99612:p.Arg198Lys SP substitution exon 1 VAR_065144 P01116:p.Lys5Glu SP substitution exon 1 VAR_065145 P01116:p.Gly13Arg SP substitution exon 1 VAR_065146 P01116:p.Gly60Ser SP substitution exon 1 VAR_065147 Q9NR23:p.Arg195Gln SP substitution exon 1 VAR_065148 Q9NR23:p.Arg266Cys SP substitution exon 1 VAR_065149 Q9NR23:p.Arg274Trp SP substitution exon 1 VAR_065150 Q9NR23:p.Leu305Pro SP substitution exon 1 VAR_065151 Q6KF10:p.Ala199Thr SP substitution exon 1 VAR_065153 O00255:p.Ile147Phe SP substitution exon 1 VAR_065154 O00255:p.Leu157Trp SP substitution exon 1 VAR_065155 O00255:p.Leu418Arg SP substitution exon 1 VAR_065156 O00255:p.Trp476Cys SP substitution exon 1 VAR_065157 P53597:p.Gly85Ala SP substitution exon 1 VAR_065158 Q9Y5Y0:p.Asn121Asp SP substitution exon 1 VAR_065159 Q9Y5Y0:p.Cys192Arg SP substitution exon 1 VAR_065160 Q9Y5Y0:p.Ala241Thr SP substitution exon 1 VAR_065161 Q9Y5Y0:p.Gly493Arg SP substitution exon 1 VAR_065162 Q8NCM2:p.Ala745Thr SP substitution exon 1 VAR_065163 P18507:p.His357Arg SP substitution exon 1 VAR_065164 P35575:p.Pro178Ala SP substitution exon 1 VAR_065165 P35575:p.Thr255Ile SP substitution exon 1 VAR_065166 Q6IWH7:p.Glu912Lys SP substitution exon 1 VAR_065169 Q9H6I2:p.Gly178Cys SP substitution exon 1 VAR_065170 Q9H6I2:p.Tyr259Asn SP substitution exon 1 VAR_065171 P15056:p.Thr244Pro SP substitution exon 1 VAR_065172 P15056:p.Gln262Lys SP substitution exon 1 VAR_065173 P15056:p.Asn580Asp SP substitution exon 1 VAR_065174 P48735:p.Arg140Gly SP substitution exon 1 VAR_065175 P48735:p.Arg140Gln SP substitution exon 1 VAR_065176 Q99250:p.Met252Val SP substitution exon 1 VAR_065177 Q99250:p.Val261Met SP substitution exon 1 VAR_065178 Q99250:p.Ala263Val SP substitution exon 1 VAR_065179 Q99250:p.Ala575Val SP substitution exon 1 VAR_065180 Q99250:p.Glu1211Lys SP substitution exon 1 VAR_065181 Q99250:p.Ile1473Met SP substitution exon 1 VAR_065182 Q49MI3:p.Arg106Ser SP substitution exon 1 VAR_065185 P21589:p.Cys358Tyr SP substitution exon 1 VAR_065186 P22792:p.Gln509Arg SP substitution exon 1 VAR_065187 Q5MIZ7:p.Ile503Val SP substitution exon 1 VAR_065188 Q8IW00:p.Lys243Arg SP substitution exon 1 VAR_065189 Q9H237:p.His252Tyr SP substitution exon 1 VAR_065190 Q9H237:p.Ser297Leu SP substitution exon 1 VAR_065191 Q9H237:p.Leu331Arg SP substitution exon 1 VAR_065192 Q9H237:p.Glu361Val SP substitution exon 1 VAR_065193 Q9H237:p.Cys385Tyr SP substitution exon 1 VAR_065194 P00441:p.Ala96Gly SP substitution exon 1 VAR_065196 P15538:p.Gly379Val SP substitution exon 1 VAR_065197 P15538:p.Arg454Cys SP substitution exon 1 VAR_065198 P41180:p.Gln27Arg SP substitution exon 1 VAR_065199 P41180:p.Thr100Ile SP substitution exon 1 VAR_065201 P41180:p.Pro339Thr SP substitution exon 1 VAR_065202 P41180:p.Leu650Pro SP substitution exon 1 VAR_065203 P41180:p.Val689Met SP substitution exon 1 VAR_065205 Q6UXD5:p.Arg74Pro SP substitution exon 1 VAR_065206 P11166:p.Asn34Tyr SP substitution exon 1 VAR_065207 P11166:p.Arg93Trp SP substitution exon 1 VAR_065208 P11166:p.Ser95Ile SP substitution exon 1 VAR_065209 P11166:p.Met96Val SP substitution exon 1 VAR_065210 P11166:p.Arg153His SP substitution exon 1 VAR_065211 P11166:p.Ala155Val SP substitution exon 1 VAR_065212 P11166:p.Val165Ile SP substitution exon 1 VAR_065213 P11166:p.Arg212Cys SP substitution exon 1 VAR_065214 P11166:p.Arg212His SP substitution exon 1 VAR_065215 P11166:p.Arg223Pro SP substitution exon 1 VAR_065216 P11166:p.Arg223Trp SP substitution exon 1 VAR_065217 P11166:p.Val303Leu SP substitution exon 1 VAR_065218 P11166:p.Asn317Thr SP substitution exon 1 VAR_065219 P11166:p.Ser324Leu SP substitution exon 1 VAR_065220 P11166:p.Glu329Gln SP substitution exon 1 VAR_065221 P11166:p.Arg333Gln SP substitution exon 1 VAR_065222 P11166:p.Gly382Asp SP substitution exon 1 VAR_065223 P11166:p.Ala405Asp SP substitution exon 1 VAR_065224 P11166:p.Pro485Leu SP substitution exon 1 VAR_065225 Q15842:p.Ser422Leu SP substitution exon 1 VAR_065226 P18507:p.Asn79Ser SP substitution exon 1 VAR_065227 P35240:p.Cys133Arg SP substitution exon 1 VAR_065228 Q9HC29:p.Thr605Asn SP substitution exon 1 VAR_065229 P35637:p.Met254Val SP substitution exon 1 VAR_065230 P35499:p.Arg225Trp SP substitution exon 1 VAR_065231 P35499:p.Ile693Thr SP substitution exon 1 VAR_065232 Q9NY72:p.Val54Gly SP substitution exon 1 VAR_065233 Q92851:p.Lys14Thr SP substitution exon 1 VAR_065234 Q92851:p.Arg21Cys SP substitution exon 1 VAR_065235 Q92851:p.Leu285Pro SP substitution exon 1 VAR_065236 P21359:p.Leu1411Phe SP substitution exon 1 VAR_065237 Q9UJX0:p.Pro6Leu SP substitution exon 1 VAR_065238 Q9UJX0:p.Asn34Thr SP substitution exon 1 VAR_065239 Q9UJX0:p.Met57Leu SP substitution exon 1 VAR_065240 Q9UJX0:p.Leu59Val SP substitution exon 1 VAR_065241 P05108:p.Leu141Trp SP substitution exon 1 VAR_065242 P05108:p.Leu222Pro SP substitution exon 1 VAR_065243 P05108:p.Ala359Val SP substitution exon 1 VAR_065245 Q7L5A8:p.Arg154Cys SP substitution exon 1 VAR_065246 P60321:p.His68Gln SP substitution exon 1 VAR_065248 Q96L93:p.Lys999Asn SP substitution exon 1 VAR_065249 Q9NTX7:p.Cys25Arg SP substitution exon 1 VAR_065250 P22897:p.Gly396Ser SP substitution exon 1 VAR_065251 P22897:p.Thr399Ala SP substitution exon 1 VAR_065252 P22897:p.Leu407Phe SP substitution exon 1 VAR_065253 Q68DX3:p.Thr1021Lys SP substitution exon 1 VAR_065254 Q05682:p.His397Arg SP substitution exon 1 VAR_065257 Q8N4A0:p.Asp51Gly SP substitution exon 1 VAR_065258 O94986:p.Lys667Arg SP substitution exon 1 VAR_065259 Q9H8M5:p.Arg38Gln SP substitution exon 1 VAR_065260 Q9H8M5:p.Thr568Ile SP substitution exon 1 VAR_065263 Q13061:p.Leu201Val SP substitution exon 1 VAR_065264 Q13061:p.Lys396Asn SP substitution exon 1 VAR_065265 Q13061:p.Ile438Ser SP substitution exon 1 VAR_065266 Q14118:p.Thr192Met SP substitution exon 1 VAR_065267 A6NGG8:p.Glu227Lys SP substitution exon 1 VAR_065268 A6NGG8:p.Val247Ala SP substitution exon 1 VAR_065269 A6NGG8:p.Ala252Asp SP substitution exon 1 VAR_065270 A6NGG8:p.Arg258Ile SP substitution exon 1 VAR_065271 A6NGG8:p.Ser312Asn SP substitution exon 1 VAR_065272 A6NGG8:p.Arg320Cys SP substitution exon 1 VAR_065273 A6NGG8:p.Asp372Asn SP substitution exon 1 VAR_065274 A6NGG8:p.Glu378Lys SP substitution exon 1 VAR_065275 A6NGG8:p.Leu612Pro SP substitution exon 1 VAR_065276 A6NGG8:p.Val615Asp SP substitution exon 1 VAR_065277 A6NGG8:p.Ala628Thr SP substitution exon 1 VAR_065278 A6NGG8:p.Ala648Pro SP substitution exon 1 VAR_065279 A6NGG8:p.Cys688Tyr SP substitution exon 1 VAR_065280 A6NGG8:p.Pro954Ser SP substitution exon 1 VAR_065281 A6NGG8:p.Arg955Gln SP substitution exon 1 VAR_065282 A6NGG8:p.Ala959Thr SP substitution exon 1 VAR_065283 A6NGG8:p.Gln1020Arg SP substitution exon 1 VAR_065285 A6NGG8:p.Ala1160Thr SP substitution exon 1 VAR_065286 A6NGG8:p.Arg1177Gln SP substitution exon 1 VAR_065288 A6NGG8:p.Gly1247Ser SP substitution exon 1 VAR_065289 Q15738:p.Ala182Pro SP substitution exon 1 VAR_065292 O43570:p.Glu143Lys SP substitution exon 1 VAR_065293 Q7RTS9:p.Cys542Arg SP substitution exon 1 VAR_065294 Q9ULC3:p.Met12Lys SP substitution exon 1 VAR_065296 P53674:p.Ser129Arg SP substitution exon 1 VAR_065298 Q6PGP7:p.Ala1077Asp SP substitution exon 1 VAR_065299 Q6PGP7:p.Pro1270Ala SP substitution exon 1 VAR_065300 Q6PGP7:p.Leu1485Arg SP substitution exon 1 VAR_065301 Q9UPY3:p.Ser839Phe SP substitution exon 1 VAR_065303 P00451:p.Pro83Arg SP substitution exon 1 VAR_065304 P00451:p.Asp186Asn SP substitution exon 1 VAR_065305 P00451:p.Leu191Phe SP substitution exon 1 VAR_065306 P00451:p.Leu195Pro SP substitution exon 1 VAR_065307 P00451:p.Leu261Pro SP substitution exon 1 VAR_065308 P00451:p.Gly280Asp SP substitution exon 1 VAR_065309 P00451:p.Ala394Ser SP substitution exon 1 VAR_065310 P00451:p.Gly474Val SP substitution exon 1 VAR_065311 P00451:p.Pro496Arg SP substitution exon 1 VAR_065312 P00451:p.Gly513Val SP substitution exon 1 VAR_065313 P00451:p.Pro569Arg SP substitution exon 1 VAR_065314 P00451:p.Asn637Ile SP substitution exon 1 VAR_065315 P00451:p.Ala1720Val SP substitution exon 1 VAR_065316 P00451:p.Phe1762Leu SP substitution exon 1 VAR_065317 P00451:p.Cys1877Tyr SP substitution exon 1 VAR_065318 P00451:p.Gly2013Arg SP substitution exon 1 VAR_065319 P00451:p.His2101Asp SP substitution exon 1 VAR_065320 P00451:p.Gln2106Pro SP substitution exon 1 VAR_065321 P00451:p.Met2143Val SP substitution exon 1 VAR_065322 P00451:p.Pro2172Leu SP substitution exon 1 VAR_065323 P00451:p.Asp2286Gly SP substitution exon 1 VAR_065324 P00451:p.Ile2336Phe SP substitution exon 1 VAR_065325 P00451:p.Gly2344Asp SP substitution exon 1 VAR_065326 O15537:p.Ser73Pro SP substitution exon 1 VAR_065327 O15537:p.Asp145His SP substitution exon 1 VAR_065328 O15537:p.Arg156Gly SP substitution exon 1 VAR_065329 O15537:p.Pro192Leu SP substitution exon 1 VAR_065330 O15537:p.Arg209Cys SP substitution exon 1 VAR_065331 O15537:p.Arg213Gln SP substitution exon 1 VAR_065339 Q06210:p.Thr15Ala SP substitution exon 1 VAR_065340 Q06210:p.Thr15Met SP substitution exon 1 VAR_065341 Q06210:p.Asp43Val SP substitution exon 1 VAR_065342 Q06210:p.Arg111Cys SP substitution exon 1 VAR_065343 Q06210:p.Ile121Thr SP substitution exon 1 VAR_065344 Q06210:p.Val199Phe SP substitution exon 1 VAR_065345 Q06210:p.Asp366Tyr SP substitution exon 1 VAR_065346 Q06210:p.Arg403His SP substitution exon 1 VAR_065347 Q06210:p.Arg452His SP substitution exon 1 VAR_065348 Q06210:p.Met509Thr SP substitution exon 1 VAR_065349 Q06210:p.Met510Thr SP substitution exon 1 VAR_065350 Q06210:p.Arg514Trp SP substitution exon 1 VAR_065351 Q06210:p.Arg530Trp SP substitution exon 1 VAR_065352 Q86SU0:p.Arg97Gln SP substitution exon 1 VAR_065353 Q86SU0:p.Arg453Gln SP substitution exon 1 VAR_065354 Q86SU0:p.Arg463Cys SP substitution exon 1 VAR_065355 Q9UMX6:p.Gly157Arg SP substitution exon 1 VAR_065356 Q86SQ9:p.Lys42Glu SP substitution exon 1 VAR_065358 Q9Y6H5:p.Val44Ala SP substitution exon 1 VAR_065360 O95932:p.Asp327Gly SP substitution exon 1 VAR_065361 O95932:p.Leu517Trp SP substitution exon 1 VAR_065362 P23352:p.Cys134Gly SP substitution exon 1 VAR_065363 P23352:p.Cys163Arg SP substitution exon 1 VAR_065364 P23352:p.Glu539Lys SP substitution exon 1 VAR_065365 P04839:p.Thr178Pro SP substitution exon 1 VAR_065366 P04839:p.Gln231Pro SP substitution exon 1 VAR_065367 P07738:p.Arg62Gln SP substitution exon 1 VAR_065368 P07738:p.Arg90Cys SP substitution exon 1 VAR_065370 P08709:p.Cys82Phe SP substitution exon 1 VAR_065371 P08709:p.Cys82Arg SP substitution exon 1 VAR_065373 P08709:p.Glu85Lys SP substitution exon 1 VAR_065374 P08709:p.Arg88Gly SP substitution exon 1 VAR_065375 P08709:p.Arg88Pro SP substitution exon 1 VAR_065376 P08709:p.Asn117Asp SP substitution exon 1 VAR_065377 P08709:p.Gly138Asp SP substitution exon 1 VAR_065378 P08709:p.Gly156Ser SP substitution exon 1 VAR_065379 P08709:p.Ser171Phe SP substitution exon 1 VAR_065380 P08709:p.Gly177Arg SP substitution exon 1 VAR_065381 P08709:p.Leu181Pro SP substitution exon 1 VAR_065382 P08709:p.Asp183Asn SP substitution exon 1 VAR_065383 P08709:p.Ser186Phe SP substitution exon 1 VAR_065384 P08709:p.Pro189Ser SP substitution exon 1 VAR_065385 P08709:p.Pro194Leu SP substitution exon 1 VAR_065386 P08709:p.Ile198Thr SP substitution exon 1 VAR_065387 P08709:p.Gly240Arg SP substitution exon 1 VAR_065388 P08709:p.Ser250Phe SP substitution exon 1 VAR_065389 P08709:p.Ala251Pro SP substitution exon 1 VAR_065390 P08709:p.Ala251Thr SP substitution exon 1 VAR_065391 P08709:p.Cys254Arg SP substitution exon 1 VAR_065392 P08709:p.Leu264Pro SP substitution exon 1 VAR_065393 P08709:p.Asp272Asn SP substitution exon 1 VAR_065394 P08709:p.Asp277Asn SP substitution exon 1 VAR_065395 P08709:p.Thr298Ile SP substitution exon 1 VAR_065396 P08709:p.His301Gln SP substitution exon 1 VAR_065397 P08709:p.Leu314Val SP substitution exon 1 VAR_065398 P08709:p.Leu321Phe SP substitution exon 1 VAR_065399 P08709:p.Leu323Arg SP substitution exon 1 VAR_065400 P08709:p.Arg326Gln SP substitution exon 1 VAR_065401 P08709:p.Arg337Cys SP substitution exon 1 VAR_065402 P08709:p.Gly343Ser SP substitution exon 1 VAR_065403 P08709:p.Trp344Arg SP substitution exon 1 VAR_065404 P08709:p.Gly345Ser SP substitution exon 1 VAR_065405 P08709:p.Arg350Cys SP substitution exon 1 VAR_065406 P08709:p.Leu360Pro SP substitution exon 1 VAR_065407 P08709:p.Pro363His SP substitution exon 1 VAR_065408 P08709:p.Arg364Trp SP substitution exon 1 VAR_065409 P08709:p.Arg375Trp SP substitution exon 1 VAR_065410 P08709:p.Thr384Met SP substitution exon 1 VAR_065411 P08709:p.Met387Thr SP substitution exon 1 VAR_065412 P08709:p.Met387Val SP substitution exon 1 VAR_065413 P08709:p.Phe388Ser SP substitution exon 1 VAR_065414 P08709:p.Gly391Cys SP substitution exon 1 VAR_065415 P08709:p.Asp398Glu SP substitution exon 1 VAR_065416 P08709:p.Lys401Glu SP substitution exon 1 VAR_065417 P08709:p.Ser404Asn SP substitution exon 1 VAR_065418 P08709:p.His408Gln SP substitution exon 1 VAR_065419 P08709:p.His408Arg SP substitution exon 1 VAR_065420 P08709:p.Arg413Gly SP substitution exon 1 VAR_065421 P08709:p.Gly414Cys SP substitution exon 1 VAR_065422 P08709:p.Val422Phe SP substitution exon 1 VAR_065423 P08709:p.Gly425Ala SP substitution exon 1 VAR_065424 P08709:p.Gly425Cys SP substitution exon 1 VAR_065425 P08709:p.Ala429Thr SP substitution exon 1 VAR_065426 P08709:p.Gly432Asp SP substitution exon 1 VAR_065427 P08709:p.Tyr437Phe SP substitution exon 1 VAR_065428 P00742:p.Glu47Gly SP substitution exon 1 VAR_065429 P00742:p.Gly51Val SP substitution exon 1 VAR_065430 P00742:p.Glu54Gly SP substitution exon 1 VAR_065431 P00742:p.Glu54Lys SP substitution exon 1 VAR_065432 P00742:p.Glu72Gln SP substitution exon 1 VAR_065433 P00742:p.Glu91Lys SP substitution exon 1 VAR_065434 P00742:p.Glu142Lys SP substitution exon 1 VAR_065435 P00742:p.Cys149Tyr SP substitution exon 1 VAR_065436 P00742:p.Cys151Tyr SP substitution exon 1 VAR_065437 P00742:p.Gly289Arg SP substitution exon 1 VAR_065438 P00742:p.Glu304Lys SP substitution exon 1 VAR_065439 P00742:p.Asp322Asn SP substitution exon 1 VAR_065440 P00742:p.Arg327Trp SP substitution exon 1 VAR_065441 P00742:p.Val338Met SP substitution exon 1 VAR_065442 P00742:p.Glu350Lys SP substitution exon 1 VAR_065443 P00742:p.Thr358Met SP substitution exon 1 VAR_065444 P00742:p.Gly363Ser SP substitution exon 1 VAR_065445 P00742:p.Arg366Cys SP substitution exon 1 VAR_065446 P00742:p.Ser374Pro SP substitution exon 1 VAR_065447 P00742:p.Pro383Ser SP substitution exon 1 VAR_065448 P00742:p.Cys390Phe SP substitution exon 1 VAR_065449 P00742:p.Cys404Arg SP substitution exon 1 VAR_065450 P00742:p.Gly406Ser SP substitution exon 1 VAR_065451 P00742:p.Gly420Arg SP substitution exon 1 VAR_065452 P00742:p.Lys448Asn SP substitution exon 1 VAR_065453 P35914:p.Arg165Gln SP substitution exon 1 VAR_065454 P16930:p.Ala35Thr SP substitution exon 1 VAR_065455 P16930:p.Gln279Arg SP substitution exon 1 VAR_065456 P18583:p.Pro473Ser SP substitution exon 1 VAR_065457 P18583:p.Thr555Met SP substitution exon 1 VAR_065458 P18583:p.Ser1202Leu SP substitution exon 1 VAR_065459 O14681:p.Asp30Gly SP substitution exon 1 VAR_065460 O14681:p.Pro195Trp SP substitution exon 1 VAR_065461 O14681:p.Ile196Asp SP substitution exon 1 VAR_065462 O14681:p.His197Tyr SP substitution exon 1 VAR_065463 O14681:p.Val199His SP substitution exon 1 VAR_065464 O14681:p.Thr319Ala SP substitution exon 1 VAR_065465 P29376:p.Glu763Lys SP substitution exon 1 VAR_065466 Q13336:p.Asn74Lys SP substitution exon 1 VAR_065469 Q9NPC6:p.Ser48Pro SP substitution exon 1 VAR_065470 Q9NPC6:p.Ile246Met SP substitution exon 1 VAR_065471 Q9BR39:p.Ser101Arg SP substitution exon 1 VAR_065472 Q9BR39:p.Tyr141His SP substitution exon 1 VAR_065473 Q9BR39:p.Ser165Phe SP substitution exon 1 VAR_065474 Q9BR39:p.Arg436Cys SP substitution exon 1 VAR_065475 Q9BR39:p.Gly505Ser SP substitution exon 1 VAR_065476 Q96L12:p.Lys82Arg SP substitution exon 1 VAR_065477 Q0ZGT2:p.Gln131Glu SP substitution exon 1 VAR_065478 Q0ZGT2:p.Arg279Cys SP substitution exon 1 VAR_065479 O95817:p.Arg71Trp SP substitution exon 1 VAR_065480 O95817:p.Arg477His SP substitution exon 1 VAR_065481 Q13415:p.Phe89Ser SP substitution exon 1 VAR_065482 Q13415:p.Arg105Gln SP substitution exon 1 VAR_065483 Q13415:p.Glu127Gly SP substitution exon 1 VAR_065484 Q13415:p.Arg666Trp SP substitution exon 1 VAR_065485 Q13415:p.Arg720Gln SP substitution exon 1 VAR_065486 O43929:p.Tyr174Cys SP substitution exon 1 VAR_065488 Q9H211:p.Ala66Thr SP substitution exon 1 VAR_065489 Q9H211:p.Gln117His SP substitution exon 1 VAR_065490 Q9H211:p.Arg453Trp SP substitution exon 1 VAR_065491 Q9H211:p.Arg462Gln SP substitution exon 1 VAR_065492 Q9H211:p.Glu468Lys SP substitution exon 1 VAR_065493 Q99741:p.Thr323Arg SP substitution exon 1 VAR_065494 P41180:p.Val697Met SP substitution exon 1 VAR_065495 O75603:p.Arg110Trp SP substitution exon 1 VAR_065496 O75603:p.Tyr282Asp SP substitution exon 1 VAR_065497 O75603:p.Val382Met SP substitution exon 1 VAR_065498 O75603:p.Asn502His SP substitution exon 1 VAR_065499 Q86WW8:p.Ala53Pro SP substitution exon 1 VAR_065500 O00294:p.Gly368Trp SP substitution exon 1 VAR_065501 O00294:p.Arg400Trp SP substitution exon 1 VAR_065504 Q13233:p.Leu189Pro SP substitution exon 1 VAR_065505 Q13233:p.Leu189Arg SP substitution exon 1 VAR_065507 Q13233:p.Gly616Arg SP substitution exon 1 VAR_065508 Q8WXF7:p.Glu66Gln SP substitution exon 1 VAR_065509 Q8WXF7:p.Leu157Trp SP substitution exon 1 VAR_065510 Q8WXF7:p.Asn355Lys SP substitution exon 1 VAR_065511 Q8WXF7:p.Met408Val SP substitution exon 1 VAR_065512 Q8WXF7:p.Arg415Trp SP substitution exon 1 VAR_065514 Q7Z4L5:p.Phe60Tyr SP substitution exon 1 VAR_065515 Q7Z4L5:p.Lys66Arg SP substitution exon 1 VAR_065516 Q7Z4L5:p.Trp150Arg SP substitution exon 1 VAR_065517 Q7Z4L5:p.Lys157Glu SP substitution exon 1 VAR_065518 Q7Z4L5:p.Pro209Leu SP substitution exon 1 VAR_065519 Q7Z4L5:p.Gln222Leu SP substitution exon 1 VAR_065520 Q7Z4L5:p.Thr231Ser SP substitution exon 1 VAR_065521 Q7Z4L5:p.Asp242Asn SP substitution exon 1 VAR_065522 Q7Z4L5:p.Tyr255Cys SP substitution exon 1 VAR_065523 Q7Z4L5:p.Met280Val SP substitution exon 1 VAR_065524 Q7Z4L5:p.Ala327Ser SP substitution exon 1 VAR_065525 Q7Z4L5:p.Tyr347Cys SP substitution exon 1 VAR_065526 Q7Z4L5:p.Arg411Gly SP substitution exon 1 VAR_065527 Q7Z4L5:p.Gln412Arg SP substitution exon 1 VAR_065528 Q7Z4L5:p.Asp424Glu SP substitution exon 1 VAR_065529 Q7Z4L5:p.His566Arg SP substitution exon 1 VAR_065530 Q7Z4L5:p.Ser591Asn SP substitution exon 1 VAR_065531 Q7Z4L5:p.Arg616Cys SP substitution exon 1 VAR_065532 Q7Z4L5:p.Ile624Val SP substitution exon 1 VAR_065533 Q7Z4L5:p.His645Arg SP substitution exon 1 VAR_065534 Q7Z4L5:p.Ser724Thr SP substitution exon 1 VAR_065535 Q7Z4L5:p.Pro753Leu SP substitution exon 1 VAR_065536 Q7Z4L5:p.Asp755Tyr SP substitution exon 1 VAR_065537 Q7Z4L5:p.Leu795Pro SP substitution exon 1 VAR_065538 Q7Z4L5:p.Met844Val SP substitution exon 1 VAR_065539 Q7Z4L5:p.Arg867Cys SP substitution exon 1 VAR_065540 Q7Z4L5:p.Arg867His SP substitution exon 1 VAR_065541 Q7Z4L5:p.Gln869Arg SP substitution exon 1 VAR_065542 Q7Z4L5:p.Arg939Gln SP substitution exon 1 VAR_065543 Q7Z4L5:p.Arg939Trp SP substitution exon 1 VAR_065544 Q7Z4L5:p.Leu1002Val SP substitution exon 1 VAR_065545 Q7Z4L5:p.Met1011Val SP substitution exon 1 VAR_065546 Q7Z4L5:p.Tyr1035Cys SP substitution exon 1 VAR_065547 Q7Z4L5:p.Asp1041Asn SP substitution exon 1 VAR_065548 Q7Z4L5:p.Thr1103Arg SP substitution exon 1 VAR_065549 Q7Z4L5:p.Tyr1167Cys SP substitution exon 1 VAR_065550 Q7Z4L5:p.Met1186Val SP substitution exon 1 VAR_065551 Q7Z4L5:p.Ile1208Ser SP substitution exon 1 VAR_065552 Q7Z4L5:p.Asp1284His SP substitution exon 1 VAR_065553 Q7Z4L5:p.Arg1311Gly SP substitution exon 1 VAR_065555 Q8IWZ6:p.Tyr671Cys SP substitution exon 1 VAR_065556 Q68CZ1:p.Ala1183Gly SP substitution exon 1 VAR_065557 O75161:p.Arg160Leu SP substitution exon 1 VAR_065558 P06132:p.Gly168Arg SP substitution exon 1 VAR_065559 P06132:p.Gly170Asp SP substitution exon 1 VAR_065560 P00441:p.Leu68Pro SP substitution exon 1 VAR_065561 P13533:p.Arg721Trp SP substitution exon 1 VAR_065562 Q03154:p.Arg378Gln SP substitution exon 1 VAR_065563 Q03154:p.Arg378Trp SP substitution exon 1 VAR_065564 P55809:p.Ala215Val SP substitution exon 1 VAR_065565 P55809:p.Ser226Asn SP substitution exon 1 VAR_065566 P55809:p.Leu327Pro SP substitution exon 1 VAR_065567 P55809:p.Val404Phe SP substitution exon 1 VAR_065568 P55809:p.Ser405Pro SP substitution exon 1 VAR_065569 P55809:p.Arg468Cys SP substitution exon 1 VAR_065570 Q15746:p.Ala128Val SP substitution exon 1 VAR_065571 Q15746:p.Gln133His SP substitution exon 1 VAR_065572 Q15746:p.Pro160Arg SP substitution exon 1 VAR_065573 Q15746:p.Thr1085Ala SP substitution exon 1 VAR_065574 Q15746:p.Val1213Met SP substitution exon 1 VAR_065575 Q15746:p.Glu1399Lys SP substitution exon 1 VAR_065580 Q96MT3:p.Arg144His SP substitution exon 1 VAR_065581 Q96MT3:p.Tyr472His SP substitution exon 1 VAR_065582 Q7Z3G6:p.Arg148His SP substitution exon 1 VAR_065583 Q7Z3G6:p.Val153Ile SP substitution exon 1 VAR_065584 Q7Z3G6:p.Val605Phe SP substitution exon 1 VAR_065585 Q9HD40:p.Ala239Thr SP substitution exon 1 VAR_065586 Q9HD40:p.Tyr334Cys SP substitution exon 1 VAR_065587 O75643:p.Arg681Cys SP substitution exon 1 VAR_065588 O75643:p.Arg681His SP substitution exon 1 VAR_065589 O75643:p.Val683Leu SP substitution exon 1 VAR_065590 O75643:p.Tyr689Cys SP substitution exon 1 VAR_065591 P51795:p.Gly179Asp SP substitution exon 1 VAR_065592 P51795:p.Ser203Leu SP substitution exon 1 VAR_065593 P51795:p.Gly212Ala SP substitution exon 1 VAR_065594 P51795:p.Cys219Arg SP substitution exon 1 VAR_065595 P51795:p.Cys221Arg SP substitution exon 1 VAR_065596 P51795:p.Leu225Pro SP substitution exon 1 VAR_065597 P51795:p.Gly260Val SP substitution exon 1 VAR_065598 P51795:p.Glu267Ala SP substitution exon 1 VAR_065600 P51795:p.Ser270Gly SP substitution exon 1 VAR_065601 P51795:p.Ser270Arg SP substitution exon 1 VAR_065602 P51795:p.Tyr272Cys SP substitution exon 1 VAR_065603 P51795:p.Phe273Leu SP substitution exon 1 VAR_065604 P51795:p.Leu278Phe SP substitution exon 1 VAR_065605 P51795:p.Asn340Lys SP substitution exon 1 VAR_065606 P51795:p.Gly462Asp SP substitution exon 1 VAR_065607 P51795:p.Leu469Pro SP substitution exon 1 VAR_065608 P51795:p.Gly513Glu SP substitution exon 1 VAR_065609 P51795:p.Gly513Arg SP substitution exon 1 VAR_065610 P51795:p.Arg516Trp SP substitution exon 1 VAR_065611 P51795:p.Ile524Lys SP substitution exon 1 VAR_065612 P51795:p.Ser545Asn SP substitution exon 1 VAR_065613 P51795:p.Lys546Glu SP substitution exon 1 VAR_065614 P51795:p.Trp547Gly SP substitution exon 1 VAR_065615 P51795:p.Thr657Ser SP substitution exon 1 VAR_065616 P20839:p.Arg105Trp SP substitution exon 1 VAR_065617 P20839:p.Thr116Met SP substitution exon 1 VAR_065618 P20839:p.Asn198Lys SP substitution exon 1 VAR_065619 P20839:p.Ala285Thr SP substitution exon 1 VAR_065620 P20839:p.Gly324Asp SP substitution exon 1 VAR_065621 P20839:p.His372Pro SP substitution exon 1 VAR_065627 Q15831:p.Glu14Lys SP substitution exon 1 VAR_065628 Q15831:p.Glu16Gly SP substitution exon 1 VAR_065629 Q15831:p.Val66Met SP substitution exon 1 VAR_065630 Q15831:p.Arg86Gly SP substitution exon 1 VAR_065631 Q15831:p.Gln123Arg SP substitution exon 1 VAR_065632 Q15831:p.Phe157Ser SP substitution exon 1 VAR_065633 Q15831:p.Leu160Pro SP substitution exon 1 VAR_065634 Q15831:p.Gln170Pro SP substitution exon 1 VAR_065635 Q15831:p.Gly171Ser SP substitution exon 1 VAR_065636 Q15831:p.His174Arg SP substitution exon 1 VAR_065637 Q15831:p.Asp176Tyr SP substitution exon 1 VAR_065638 Q15831:p.Ile177Asn SP substitution exon 1 VAR_065639 Q15831:p.Asn181Glu SP substitution exon 1 VAR_065640 Q15831:p.Asp194Val SP substitution exon 1 VAR_065641 Q15831:p.Glu199Lys SP substitution exon 1 VAR_065642 Q15831:p.Glu199Gln SP substitution exon 1 VAR_065643 Q15831:p.Ala205Thr SP substitution exon 1 VAR_065644 Q15831:p.Asp208Asn SP substitution exon 1 VAR_065645 Q15831:p.Gly215Asp SP substitution exon 1 VAR_065646 Q15831:p.Ser216Phe SP substitution exon 1 VAR_065647 Q15831:p.Glu223Val SP substitution exon 1 VAR_065648 Q15831:p.Thr230Pro SP substitution exon 1 VAR_065649 Q15831:p.Phe231Leu SP substitution exon 1 VAR_065650 Q15831:p.Ser232Pro SP substitution exon 1 VAR_065651 Q15831:p.Leu245Arg SP substitution exon 1 VAR_065652 Q15831:p.Thr250Pro SP substitution exon 1 VAR_065653 Q15831:p.Tyr272His SP substitution exon 1 VAR_065654 Q15831:p.Asp277Tyr SP substitution exon 1 VAR_065655 Q15831:p.Pro281Leu SP substitution exon 1 VAR_065656 Q15831:p.Leu285Gln SP substitution exon 1 VAR_065657 Q15831:p.Pro314His SP substitution exon 1 VAR_065658 Q15831:p.Pro324Leu SP substitution exon 1 VAR_065659 Q15831:p.Phe354Leu SP substitution exon 1 VAR_065660 Q15831:p.Thr367Met SP substitution exon 1 VAR_065661 P05107:p.Asp128Tyr SP substitution exon 1 VAR_065662 P05107:p.Ala239Thr SP substitution exon 1 VAR_065663 P05107:p.Asp300Val SP substitution exon 1 VAR_065665 P26439:p.Pro341Leu SP substitution exon 1 VAR_065666 P15538:p.Pro94Leu SP substitution exon 1 VAR_065667 P15538:p.Thr318Arg SP substitution exon 1 VAR_065679 P36888:p.Asp835Glu SP substitution exon 1 VAR_065680 P36888:p.Asp835His SP substitution exon 1 VAR_065681 P36888:p.Asp835Asn SP substitution exon 1 VAR_065682 P36888:p.Asp835Val SP substitution exon 1 VAR_065683 P36888:p.Asp835Tyr SP substitution exon 1 VAR_065684 P36888:p.Ile836Met SP substitution exon 1 VAR_065685 P50993:p.Gly715Arg SP substitution exon 1 VAR_065686 Q14126:p.Thr335Ala SP substitution exon 1 VAR_065687 Q02487:p.Arg203Cys SP substitution exon 1 VAR_065688 Q02487:p.Ile231Thr SP substitution exon 1 VAR_065689 Q02487:p.Thr275Met SP substitution exon 1 VAR_065690 Q02487:p.Thr340Ala SP substitution exon 1 VAR_065691 Q02487:p.Ala596Val SP substitution exon 1 VAR_065692 Q02487:p.Gln638His SP substitution exon 1 VAR_065693 P15924:p.Ile445Val SP substitution exon 1 VAR_065694 P15924:p.Ala1505Val SP substitution exon 1 VAR_065695 P15924:p.Asn1526Lys SP substitution exon 1 VAR_065696 P15924:p.Arg1537Cys SP substitution exon 1 VAR_065697 P15924:p.Glu1833Val SP substitution exon 1 VAR_065698 P14923:p.Thr19Ile SP substitution exon 1 VAR_065699 P14923:p.Arg142His SP substitution exon 1 VAR_065700 P14923:p.Val648Ile SP substitution exon 1 VAR_065701 Q99959:p.Asp26Asn SP substitution exon 1 VAR_065702 Q99959:p.Glu58Asp SP substitution exon 1 VAR_065703 Q99959:p.Gln62Lys SP substitution exon 1 VAR_065704 Q99959:p.Ser70Ile SP substitution exon 1 VAR_065705 Q99959:p.Glu137Lys SP substitution exon 1 VAR_065706 Q99959:p.Ser169Gly SP substitution exon 1 VAR_065707 Q99959:p.Ala195Val SP substitution exon 1 VAR_065708 Q99959:p.Pro276Ser SP substitution exon 1 VAR_065709 Q99959:p.Thr338Ala SP substitution exon 1 VAR_065710 Q99959:p.Ala372Pro SP substitution exon 1 VAR_065711 Q99959:p.Phe424Ser SP substitution exon 1 VAR_065712 Q99959:p.Gly489Arg SP substitution exon 1 VAR_065713 Q99959:p.Thr526Met SP substitution exon 1 VAR_065714 Q99959:p.Ile531Ser SP substitution exon 1 VAR_065715 Q99959:p.Val587Ile SP substitution exon 1 VAR_065716 Q99959:p.Tyr631Cys SP substitution exon 1 VAR_065717 Q99959:p.Gly673Val SP substitution exon 1 VAR_065718 Q99959:p.Leu787Phe SP substitution exon 1 VAR_065719 Q16832:p.Glu113Lys SP substitution exon 1 VAR_065720 Q96KN7:p.Met32Leu SP substitution exon 1 VAR_065721 Q96KN7:p.Ser135Arg SP substitution exon 1 VAR_065722 Q96KN7:p.Ala318Val SP substitution exon 1 VAR_065723 Q96KN7:p.Arg363Thr SP substitution exon 1 VAR_065724 Q96KN7:p.Pro585Ser SP substitution exon 1 VAR_065725 Q96KN7:p.Gln589His SP substitution exon 1 VAR_065726 Q96KN7:p.Arg598Gln SP substitution exon 1 VAR_065727 Q96KN7:p.Cys603Ser SP substitution exon 1 VAR_065728 Q96KN7:p.Ala635Gly SP substitution exon 1 VAR_065729 Q96KN7:p.Thr638Ile SP substitution exon 1 VAR_065739 Q4LDG9:p.Asn150Ser SP substitution exon 1 VAR_065740 Q8TBJ5:p.Gly188Asp SP substitution exon 1 VAR_065741 Q9C0K0:p.Glu32Val SP substitution exon 1 VAR_065742 Q9C0K0:p.Pro229Ser SP substitution exon 1 VAR_065743 Q14184:p.Arg209Leu SP substitution exon 1 VAR_065744 Q9UQ52:p.Arg303Gln SP substitution exon 1 VAR_065745 Q9UQ52:p.Phe314Val SP substitution exon 1 VAR_065746 Q9UQ52:p.Glu954Val SP substitution exon 1 VAR_065747 P55290:p.Arg65Cys SP substitution exon 1 VAR_065748 P55290:p.Ala103Val SP substitution exon 1 VAR_065749 P55290:p.Gly113Arg SP substitution exon 1 VAR_065750 P55290:p.Arg246Trp SP substitution exon 1 VAR_065751 P55290:p.Glu367Gln SP substitution exon 1 VAR_065752 P55290:p.Ala376Thr SP substitution exon 1 VAR_065754 P35711:p.Gln362Pro SP substitution exon 1 VAR_065755 Q96E52:p.His69Tyr SP substitution exon 1 VAR_065756 Q96E52:p.Glu272Gly SP substitution exon 1 VAR_065758 Q14449:p.Phe90Ile SP substitution exon 1 VAR_065759 Q14449:p.His507Tyr SP substitution exon 1 VAR_065760 Q86SS6:p.Val154Met SP substitution exon 1 VAR_065761 Q86SS6:p.Ile238Val SP substitution exon 1 VAR_065762 Q86SS6:p.Leu353Val SP substitution exon 1 VAR_065763 P51884:p.Leu199Pro SP substitution exon 1 VAR_065764 P11532:p.Trp118Arg SP substitution exon 1 VAR_065765 O00755:p.Glu72Lys SP substitution exon 1 VAR_065766 Q9BQB4:p.Val21Leu SP substitution exon 1 VAR_065767 Q9BQB4:p.Val21Met SP substitution exon 1 VAR_065768 O94906:p.Arg729Trp SP substitution exon 1 VAR_065769 Q86SG6:p.Leu330Phe SP substitution exon 1 VAR_065770 Q86SG6:p.His425Tyr SP substitution exon 1 VAR_065771 Q86SG6:p.Ala497Pro SP substitution exon 1 VAR_065772 Q9NRM0:p.Leu75Arg SP substitution exon 1 VAR_065773 Q9NRM0:p.Thr125Met SP substitution exon 1 VAR_065774 Q9NRM0:p.Arg171Cys SP substitution exon 1 VAR_065775 Q9NRM0:p.Arg198Cys SP substitution exon 1 VAR_065776 Q9NRM0:p.Arg380Trp SP substitution exon 1 VAR_065777 P51787:p.Ser277Leu SP substitution exon 1 VAR_065778 P51787:p.Pro320His SP substitution exon 1 VAR_065779 P56696:p.Gly287Arg SP substitution exon 1 VAR_065780 P01130:p.Asp139His SP substitution exon 1 VAR_065781 P01130:p.Glu201Lys SP substitution exon 1 VAR_065782 P01130:p.Cys255Ser SP substitution exon 1 VAR_065783 P01130:p.Arg471Gly SP substitution exon 1 VAR_065784 P11166:p.Ser294Pro SP substitution exon 1 VAR_065785 Q9BQB6:p.Ala26Thr SP substitution exon 1 VAR_065786 Q9BQB6:p.Asp36Gly SP substitution exon 1 VAR_065787 Q9BQB6:p.Asp36Tyr SP substitution exon 1 VAR_065788 Q9BQB6:p.Ser52Trp SP substitution exon 1 VAR_065789 Q9BQB6:p.Ser56Phe SP substitution exon 1 VAR_065790 Q9BQB6:p.Trp59Cys SP substitution exon 1 VAR_065791 Q9BQB6:p.Trp59Leu SP substitution exon 1 VAR_065792 Q9BQB6:p.Val66Gly SP substitution exon 1 VAR_065793 Q9BQB6:p.Val66Met SP substitution exon 1 VAR_065794 Q9BQB6:p.Gly71Ala SP substitution exon 1 VAR_065795 Q9BQB6:p.Asn77Ser SP substitution exon 1 VAR_065796 Q9BQB6:p.Asn77Tyr SP substitution exon 1 VAR_065797 Q9BQB6:p.Ile123Asn SP substitution exon 1 VAR_065798 Q9BQB6:p.Tyr139His SP substitution exon 1 VAR_065799 Q9BYB0:p.His494Gln SP substitution exon 1 VAR_065800 Q9BYB0:p.Arg537Trp SP substitution exon 1 VAR_065801 Q9BYB0:p.Ala721Thr SP substitution exon 1 VAR_065802 Q9BYB0:p.Ser953Thr SP substitution exon 1 VAR_065809 Q8NI17:p.Ser489Phe SP substitution exon 1 VAR_065810 Q99650:p.Asp647Val SP substitution exon 1 VAR_065811 Q99650:p.Pro694Leu SP substitution exon 1 VAR_065812 Q99650:p.Lys697Thr SP substitution exon 1 VAR_065813 Q96PD4:p.Ser95Leu SP substitution exon 1 VAR_065815 P42224:p.Lys201Asn SP substitution exon 1 VAR_065816 P42224:p.Glu320Gln SP substitution exon 1 VAR_065817 P42224:p.Gln463His SP substitution exon 1 VAR_065818 P00374:p.Leu80Phe SP substitution exon 1 VAR_065819 P00374:p.Asp153Val SP substitution exon 1 VAR_065823 Q8N8U9:p.Pro370Leu SP substitution exon 1 VAR_065824 Q92556:p.Ile362Ser SP substitution exon 1 VAR_065825 Q8TDX9:p.Val906Ile SP substitution exon 1 VAR_065826 P36897:p.Cys41Tyr SP substitution exon 1 VAR_065827 P36897:p.Asn45Ser SP substitution exon 1 VAR_065828 P36897:p.Gly52Arg SP substitution exon 1 VAR_065829 P36897:p.Pro83Leu SP substitution exon 1 VAR_065830 Q9Y243:p.Glu17Lys SP substitution exon 1 VAR_065831 P29320:p.Thr660Lys SP substitution exon 1 VAR_065832 P29320:p.Thr933Met SP substitution exon 1 VAR_065833 O14653:p.Gly144Trp SP substitution exon 1 VAR_065834 Q9NWW5:p.Arg6Thr SP substitution exon 1 VAR_065835 Q9NWW5:p.Ala34Thr SP substitution exon 1 VAR_065836 Q9NWW5:p.Leu47Phe SP substitution exon 1 VAR_065837 Q9NWW5:p.Leu67Pro SP substitution exon 1 VAR_065838 Q9NWW5:p.Asn77Lys SP substitution exon 1 VAR_065839 Q9NWW5:p.Arg103Gln SP substitution exon 1 VAR_065840 Q9NWW5:p.Arg149His SP substitution exon 1 VAR_065841 Q9NWW5:p.Phe238Thr SP substitution exon 1 VAR_065842 Q9NWW5:p.Ser308Thr SP substitution exon 1 VAR_065843 O43379:p.Val65Met SP substitution exon 1 VAR_065844 O43379:p.Arg438His SP substitution exon 1 VAR_065845 O43379:p.Asp511Asn SP substitution exon 1 VAR_065846 O43167:p.Cys408Gly SP substitution exon 1 VAR_065847 Q9NX62:p.Asp177Asn SP substitution exon 1 VAR_065848 Q9NX62:p.Thr183Pro SP substitution exon 1 VAR_065849 Q14CZ8:p.Leu23His SP substitution exon 1 VAR_065850 Q14CZ8:p.Gly89Asp SP substitution exon 1 VAR_065851 Q14CZ8:p.Gly89Ser SP substitution exon 1 VAR_065852 Q14CZ8:p.Arg92Gln SP substitution exon 1 VAR_065853 Q14CZ8:p.Arg92Trp SP substitution exon 1 VAR_065854 Q14CZ8:p.Arg98Cys SP substitution exon 1 VAR_065855 Q14CZ8:p.Asp128Asn SP substitution exon 1 VAR_065857 Q14CZ8:p.Pro148Ser SP substitution exon 1 VAR_065858 Q14CZ8:p.Ser196Tyr SP substitution exon 1 VAR_065859 Q14CZ8:p.Asp211Asn SP substitution exon 1 VAR_065860 Q14CZ8:p.Arg288Cys SP substitution exon 1 VAR_065861 P63252:p.Cys54Phe SP substitution exon 1 VAR_065862 P63252:p.Thr75Arg SP substitution exon 1 VAR_065863 P63252:p.Val93Ile SP substitution exon 1 VAR_065864 P63252:p.Thr305Pro SP substitution exon 1 VAR_065865 Q14524:p.Asn1987Lys SP substitution exon 1 VAR_065866 Q13285:p.Pro131Leu SP substitution exon 1 VAR_065867 Q13285:p.Arg191Cys SP substitution exon 1 VAR_065868 Q13285:p.Gly212Ser SP substitution exon 1 VAR_065869 Q13285:p.Asp238Asn SP substitution exon 1 VAR_065873 Q9BUR4:p.Phe164Leu SP substitution exon 1 VAR_065874 Q9BUR4:p.His376Tyr SP substitution exon 1 VAR_065875 Q9BUR4:p.Arg398Trp SP substitution exon 1 VAR_065876 Q9BUR4:p.Gly435Arg SP substitution exon 1 VAR_065877 A8MUM7:p.Leu97His SP substitution exon 1 VAR_065879 Q15842:p.Val346Ile SP substitution exon 1 VAR_065880 Q9NVV9:p.Asn12Lys SP substitution exon 1 VAR_065881 Q9NVV9:p.Ser21Thr SP substitution exon 1 VAR_065882 Q9NVV9:p.Arg29Pro SP substitution exon 1 VAR_065883 Q9NVV9:p.Ala39Thr SP substitution exon 1 VAR_065884 Q9NVV9:p.Thr59Ile SP substitution exon 1 VAR_065885 Q9NVV9:p.Lys89Arg SP substitution exon 1 VAR_065886 Q9NVV9:p.Asn136Lys SP substitution exon 1 VAR_065887 Q9NVV9:p.Cys170Arg SP substitution exon 1 VAR_065888 P21359:p.Arg160Thr SP substitution exon 1 VAR_065889 Q99608:p.Val318Ala SP substitution exon 1 VAR_065890 Q16620:p.Tyr706Cys SP substitution exon 1 VAR_065892 P51812:p.Thr115Ser SP substitution exon 1 VAR_065894 P51812:p.Ile189Lys SP substitution exon 1 VAR_065896 P51812:p.Phe268Ser SP substitution exon 1 VAR_065897 P51812:p.Arg383Trp SP substitution exon 1 VAR_065899 Q12879:p.Asn615Lys SP substitution exon 1 VAR_065900 Q13224:p.Arg682Cys SP substitution exon 1 VAR_065901 Q9BWP8:p.Ser169Pro SP substitution exon 1 VAR_065902 Q9BWP8:p.Gly204Ser SP substitution exon 1 VAR_065904 P12107:p.Gly796Arg SP substitution exon 1 VAR_065905 P12107:p.Gly1042Arg SP substitution exon 1 VAR_065906 P51659:p.Arg106Pro SP substitution exon 1 VAR_065907 P51659:p.Tyr217Cys SP substitution exon 1 VAR_065908 P51659:p.Asn457Tyr SP substitution exon 1 VAR_065909 Q8IVS8:p.Phe493Cys SP substitution exon 1 VAR_065910 P55072:p.Arg159Gly SP substitution exon 1 VAR_065911 P55072:p.Asp592Asn SP substitution exon 1 VAR_065912 O60826:p.Thr17Ala SP substitution exon 1 VAR_065913 Q5TEA3:p.Phe265Leu SP substitution exon 1 VAR_065914 Q13231:p.Glu74Lys SP substitution exon 1 VAR_065915 P51993:p.Leu244Val SP substitution exon 1 VAR_065916 P51993:p.Glu247Lys SP substitution exon 1 VAR_065917 P51993:p.Arg303Gly SP substitution exon 1 VAR_065918 Q9NZ01:p.Pro182Leu SP substitution exon 1 VAR_065919 Q2M1Z3:p.Thr727Ile SP substitution exon 1 VAR_065920 P13686:p.Lys52Met SP substitution exon 1 VAR_065921 P13686:p.Thr89Ile SP substitution exon 1 VAR_065922 P13686:p.Gly109Arg SP substitution exon 1 VAR_065923 P13686:p.Leu201Pro SP substitution exon 1 VAR_065924 P13686:p.Gly215Arg SP substitution exon 1 VAR_065925 P13686:p.Asp241Asn SP substitution exon 1 VAR_065926 P13686:p.Asn262His SP substitution exon 1 VAR_065927 P13686:p.Met264Lys SP substitution exon 1 VAR_065929 P48544:p.Arg39His SP substitution exon 1 VAR_065930 P48544:p.Gly151Arg SP substitution exon 1 VAR_065931 P48544:p.Thr158Ala SP substitution exon 1 VAR_065932 P48544:p.Leu168Arg SP substitution exon 1 VAR_065933 P48544:p.Met210Ile SP substitution exon 1 VAR_065934 P42224:p.Asp165Gly SP substitution exon 1 VAR_065935 P42224:p.Asp165His SP substitution exon 1 VAR_065936 P42224:p.Tyr170Asn SP substitution exon 1 VAR_065937 P42224:p.Cys174Arg SP substitution exon 1 VAR_065938 P42224:p.Met202Ile SP substitution exon 1 VAR_065939 P42224:p.Met202Val SP substitution exon 1 VAR_065940 P42224:p.Ala267Val SP substitution exon 1 VAR_065941 P42224:p.Gln271Pro SP substitution exon 1 VAR_065942 P42224:p.Arg274Gln SP substitution exon 1 VAR_065943 P42224:p.Arg274Trp SP substitution exon 1 VAR_065944 P42224:p.Lys286Ile SP substitution exon 1 VAR_065945 P42224:p.Thr288Ala SP substitution exon 1 VAR_065946 P50052:p.Gly21Val SP substitution exon 1 VAR_065947 P50052:p.Arg324Gln SP substitution exon 1 VAR_065948 P50052:p.Ile337Val SP substitution exon 1 VAR_065949 Q15080:p.Arg105Gln SP substitution exon 1 VAR_065950 P69892:p.Val68Met SP substitution exon 1 VAR_065951 Q7RTS7:p.Asp482Asn SP substitution exon 1 VAR_065952 P32243:p.Arg90Ser SP substitution exon 1 VAR_065953 P32243:p.Asn225Ser SP substitution exon 1 VAR_065954 O75531:p.Ala12Thr SP substitution exon 1 VAR_065955 Q9P2L0:p.Trp261Arg SP substitution exon 1 VAR_065956 Q5JTZ9:p.Leu155Arg SP substitution exon 1 VAR_065957 Q5JTZ9:p.Arg592Trp SP substitution exon 1 VAR_065958 Q12965:p.Ala159Pro SP substitution exon 1 VAR_065959 Q12965:p.Asp185Gly SP substitution exon 1 VAR_065960 Q12965:p.Ala221Val SP substitution exon 1 VAR_065961 Q12965:p.Gly795Arg SP substitution exon 1 VAR_065962 Q12965:p.Pro1049His SP substitution exon 1 VAR_065963 Q96FI4:p.Arg159Gln SP substitution exon 1 VAR_065964 Q96FI4:p.Glu181Lys SP substitution exon 1 VAR_065966 P26358:p.Tyr495Cys SP substitution exon 1 VAR_065967 Q8TF64:p.Gly46Arg SP substitution exon 1 VAR_065968 Q8TF64:p.Met88Ile SP substitution exon 1 VAR_065969 Q8TF64:p.Gly94Asp SP substitution exon 1 VAR_065970 Q8TF64:p.Arg189Cys SP substitution exon 1 VAR_065971 Q8TF64:p.Thr221Ile SP substitution exon 1 VAR_065972 Q8TF64:p.Gly256Asp SP substitution exon 1 VAR_065973 Q8TF64:p.Leu262Arg SP substitution exon 1 VAR_065974 Q9BQS8:p.Leu1376Pro SP substitution exon 1 VAR_065976 Q92560:p.Ser63Cys SP substitution exon 1 VAR_065977 Q92560:p.Phe81Val SP substitution exon 1 VAR_065978 Q92560:p.Cys91Trp SP substitution exon 1 VAR_065979 Q92560:p.Glu315Ala SP substitution exon 1 VAR_065980 Q92560:p.Glu685Val SP substitution exon 1 VAR_066012 O96017:p.His371Tyr SP substitution exon 1 VAR_066013 O60393:p.Gly91Trp SP substitution exon 1 VAR_066014 O60393:p.Ser342Thr SP substitution exon 1 VAR_066015 O60393:p.Val350Leu SP substitution exon 1 VAR_066016 Q05932:p.Phe13Leu SP substitution exon 1 VAR_066019 Q9NQ11:p.Phe182Leu SP substitution exon 1 VAR_066020 Q9NQ11:p.Gly877Arg SP substitution exon 1 VAR_066021 Q9NQ11:p.Leu1059Arg SP substitution exon 1 VAR_066023 Q8NFG4:p.Ser108Ile SP substitution exon 1 VAR_066024 Q8NFG4:p.Glu132Lys SP substitution exon 1 VAR_066026 Q8NFG4:p.Arg239Cys SP substitution exon 1 VAR_066027 Q8NFG4:p.Arg362Cys SP substitution exon 1 VAR_066028 Q8NFG4:p.His429Tyr SP substitution exon 1 VAR_066029 Q8NFG4:p.Lys508Arg SP substitution exon 1 VAR_066030 P46778:p.Arg32Gln SP substitution exon 1 VAR_066031 Q07889:p.Thr37Ala SP substitution exon 1 VAR_066032 Q07889:p.Pro102Arg SP substitution exon 1 VAR_066033 Q07889:p.Pro112Arg SP substitution exon 1 VAR_066034 Q07889:p.Lys170Glu SP substitution exon 1 VAR_066035 Q07889:p.Ile252Thr SP substitution exon 1 VAR_066036 Q07889:p.Thr378Ala SP substitution exon 1 VAR_066037 Q07889:p.Met422Val SP substitution exon 1 VAR_066038 Q07889:p.Glu424Lys SP substitution exon 1 VAR_066041 Q07889:p.Gly434Lys SP substitution exon 1 VAR_066042 Q07889:p.Ile437Thr SP substitution exon 1 VAR_066043 Q07889:p.Pro478Leu SP substitution exon 1 VAR_066044 Q07889:p.Pro478Arg SP substitution exon 1 VAR_066045 Q07889:p.Gly482Arg SP substitution exon 1 VAR_066046 Q07889:p.Leu490Arg SP substitution exon 1 VAR_066047 Q07889:p.Thr549Lys SP substitution exon 1 VAR_066048 Q07889:p.Arg552Met SP substitution exon 1 VAR_066049 Q07889:p.Arg552Thr SP substitution exon 1 VAR_066051 Q07889:p.Leu569Val SP substitution exon 1 VAR_066052 Q07889:p.Phe623Ile SP substitution exon 1 VAR_066053 Q07889:p.Ala708Thr SP substitution exon 1 VAR_066054 Q07889:p.Ile784Thr SP substitution exon 1 VAR_066055 Q07889:p.Pro894Arg SP substitution exon 1 VAR_066056 Q07889:p.Asn1011Ser SP substitution exon 1 VAR_066057 Q07889:p.Arg1131Lys SP substitution exon 1 VAR_066058 Q07889:p.Leu1140Ile SP substitution exon 1 VAR_066059 Q07889:p.Thr1257Ala SP substitution exon 1 VAR_066061 Q9H237:p.Ala374Pro SP substitution exon 1 VAR_066062 P40879:p.Pro129Leu SP substitution exon 1 VAR_066063 P40879:p.Pro131Leu SP substitution exon 1 VAR_066064 P40879:p.Met136Ile SP substitution exon 1 VAR_066065 P40879:p.Tyr204Asp SP substitution exon 1 VAR_066066 P40879:p.His220Pro SP substitution exon 1 VAR_066067 P40879:p.Cys343Tyr SP substitution exon 1 VAR_066069 P40879:p.Gly379Ala SP substitution exon 1 VAR_066070 P40879:p.Ser398Phe SP substitution exon 1 VAR_066071 P40879:p.Leu496Arg SP substitution exon 1 VAR_066072 P40879:p.Tyr520Cys SP substitution exon 1 VAR_066073 P40879:p.Lys521Asn SP substitution exon 1 VAR_066074 P40879:p.Ile544Asn SP substitution exon 1 VAR_066075 P40879:p.Asp652Asn SP substitution exon 1 VAR_066076 O75443:p.Asp197Asn SP substitution exon 1 VAR_066077 O75443:p.Phe211Ser SP substitution exon 1 VAR_066078 O75443:p.Val317Glu SP substitution exon 1 VAR_066079 O75443:p.Ser362Cys SP substitution exon 1 VAR_066080 O75443:p.Asn465Lys SP substitution exon 1 VAR_066081 O75443:p.Thr562Met SP substitution exon 1 VAR_066082 O75443:p.Thr815Met SP substitution exon 1 VAR_066083 O75443:p.Asn886Ser SP substitution exon 1 VAR_066084 O75443:p.Cys1036Tyr SP substitution exon 1 VAR_066085 O75443:p.Ala1098Val SP substitution exon 1 VAR_066086 O75443:p.Asp1136His SP substitution exon 1 VAR_066087 O75443:p.Pro1248Leu SP substitution exon 1 VAR_066088 O75443:p.Cys1509Gly SP substitution exon 1 VAR_066089 O75443:p.Cys1517Arg SP substitution exon 1 VAR_066090 O75443:p.Pro1791Arg SP substitution exon 1 VAR_066091 O75443:p.Cys1837Arg SP substitution exon 1 VAR_066092 O75443:p.Thr1866Met SP substitution exon 1 VAR_066093 O75443:p.His1867Arg SP substitution exon 1 VAR_066094 O75443:p.Arg1890Cys SP substitution exon 1 VAR_066095 O75443:p.Cys1898Arg SP substitution exon 1 VAR_066096 O75443:p.Arg1947Cys SP substitution exon 1 VAR_066097 O75443:p.Ile2009Thr SP substitution exon 1 VAR_066099 P35520:p.Pro200Leu SP substitution exon 1 VAR_066100 P35520:p.Ile278Ser SP substitution exon 1 VAR_066101 P35520:p.Asp281Asn SP substitution exon 1 VAR_066102 P35520:p.Asp321Val SP substitution exon 1 VAR_066103 P35520:p.Ala446Ser SP substitution exon 1 VAR_066104 P31327:p.Gly301Glu SP substitution exon 1 VAR_066105 P31327:p.Tyr389Cys SP substitution exon 1 VAR_066106 P31327:p.Leu390Arg SP substitution exon 1 VAR_066107 P31327:p.Arg718Lys SP substitution exon 1 VAR_066108 P31327:p.Arg721Gln SP substitution exon 1 VAR_066109 P31327:p.Ala724Pro SP substitution exon 1 VAR_066110 P31327:p.Ala726Thr SP substitution exon 1 VAR_066111 P31327:p.Asp767Val SP substitution exon 1 VAR_066112 P31327:p.Met792Ile SP substitution exon 1 VAR_066113 P31327:p.Val978Glu SP substitution exon 1 VAR_066114 P31327:p.Gly982Val SP substitution exon 1 VAR_066115 P31327:p.Tyr984His SP substitution exon 1 VAR_066116 P31327:p.Ile986Thr SP substitution exon 1 VAR_066117 P31327:p.Gly987Cys SP substitution exon 1 VAR_066118 P31327:p.Phe992Ser SP substitution exon 1 VAR_066119 P31327:p.Asn1016Ser SP substitution exon 1 VAR_066120 P31327:p.Pro1017Leu SP substitution exon 1 VAR_066121 P31327:p.Thr1022Ile SP substitution exon 1 VAR_066122 P31327:p.Glu1034Gly SP substitution exon 1 VAR_066123 P31327:p.His1045Arg SP substitution exon 1 VAR_066142 P31327:p.Ala589Thr SP substitution exon 1 VAR_066143 P31327:p.Ala640Ser SP substitution exon 1 VAR_066144 P31327:p.Asn716Lys SP substitution exon 1 VAR_066145 P31327:p.Arg803Cys SP substitution exon 1 VAR_066146 P31327:p.Arg803Gly SP substitution exon 1 VAR_066147 P31327:p.Arg803Ser SP substitution exon 1 VAR_066148 P31327:p.Phe805Leu SP substitution exon 1 VAR_066149 P31327:p.Phe805Ser SP substitution exon 1 VAR_066150 P31327:p.Arg814Trp SP substitution exon 1 VAR_066151 P31327:p.Cys816Arg SP substitution exon 1 VAR_066152 P31327:p.Gly911Glu SP substitution exon 1 VAR_066153 P31327:p.Gly911Val SP substitution exon 1 VAR_066154 P31327:p.Ser913Leu SP substitution exon 1 VAR_066155 P31327:p.Asp914Gly SP substitution exon 1 VAR_066156 P31327:p.Asp914His SP substitution exon 1 VAR_066157 P31327:p.Arg932Thr SP substitution exon 1 VAR_066158 P31327:p.Ala949Thr SP substitution exon 1 VAR_066159 P31327:p.Leu958Pro SP substitution exon 1 VAR_066160 P31327:p.Tyr959Cys SP substitution exon 1 VAR_066161 P31327:p.Tyr962Cys SP substitution exon 1 VAR_066162 P31327:p.Gly982Ser SP substitution exon 1 VAR_066163 P31327:p.Ser998Phe SP substitution exon 1 VAR_066171 P31327:p.Ala43Val SP substitution exon 1 VAR_066172 P31327:p.Gly58Asp SP substitution exon 1 VAR_066173 P31327:p.Ser65Phe SP substitution exon 1 VAR_066174 P31327:p.Val71Gly SP substitution exon 1 VAR_066175 P31327:p.Pro87Ser SP substitution exon 1 VAR_066176 P31327:p.Tyr89Asp SP substitution exon 1 VAR_066177 P31327:p.Asp165Gly SP substitution exon 1 VAR_066178 P31327:p.Asp224Val SP substitution exon 1 VAR_066179 P31327:p.Arg233Cys SP substitution exon 1 VAR_066180 P31327:p.His243Pro SP substitution exon 1 VAR_066181 P31327:p.Gly258Glu SP substitution exon 1 VAR_066182 P31327:p.Gly263Glu SP substitution exon 1 VAR_066183 P31327:p.Ala304Val SP substitution exon 1 VAR_066184 P31327:p.Gly317Glu SP substitution exon 1 VAR_066185 P31327:p.Asp358His SP substitution exon 1 VAR_066186 P31327:p.Pro382Leu SP substitution exon 1 VAR_066187 P31327:p.Gly401Arg SP substitution exon 1 VAR_066188 P31327:p.Gly431Arg SP substitution exon 1 VAR_066189 P31327:p.Gly432Val SP substitution exon 1 VAR_066190 P31327:p.Ala438Thr SP substitution exon 1 VAR_066191 P31327:p.Lys450Glu SP substitution exon 1 VAR_066192 P31327:p.Ala498Pro SP substitution exon 1 VAR_066193 P31327:p.Val531Glu SP substitution exon 1 VAR_066194 P31327:p.Val531Gly SP substitution exon 1 VAR_066195 P31327:p.Arg587Cys SP substitution exon 1 VAR_066196 P31327:p.Arg587Leu SP substitution exon 1 VAR_066197 P31327:p.Ser597Leu SP substitution exon 1 VAR_066198 P31327:p.Val622Met SP substitution exon 1 VAR_066199 P31327:p.Gly628Asp SP substitution exon 1 VAR_066200 P31327:p.Ile632Arg SP substitution exon 1 VAR_066201 P31327:p.Arg638Pro SP substitution exon 1 VAR_066202 P31327:p.Cys648Tyr SP substitution exon 1 VAR_066203 P31327:p.Asp654Val SP substitution exon 1 VAR_066204 P31327:p.Asn674Lys SP substitution exon 1 VAR_066205 P31327:p.Asn698Ser SP substitution exon 1 VAR_066206 Q13509:p.Thr178Met SP substitution exon 1 VAR_066207 Q13509:p.Glu205Lys SP substitution exon 1 VAR_066208 Q13509:p.Ala302Val SP substitution exon 1 VAR_066210 O60706:p.Thr1547Ile SP substitution exon 1 VAR_066211 P56381:p.Tyr12Cys SP substitution exon 1 VAR_066212 Q14315:p.Ala193Thr SP substitution exon 1 VAR_066213 Q14315:p.Met251Thr SP substitution exon 1 VAR_066214 P00738:p.Ile247Thr SP substitution exon 1 VAR_066215 P35475:p.Tyr76Cys SP substitution exon 1 VAR_066216 P35475:p.Gly84Arg SP substitution exon 1 VAR_066217 P35475:p.Thr103Pro SP substitution exon 1 VAR_066218 P35475:p.Glu178Lys SP substitution exon 1 VAR_066219 P35475:p.Phe188Leu SP substitution exon 1 VAR_066220 P35475:p.Gly219Glu SP substitution exon 1 VAR_066221 P35475:p.Gly265Arg SP substitution exon 1 VAR_066222 P35475:p.Glu276Lys SP substitution exon 1 VAR_066223 P35475:p.Trp306Leu SP substitution exon 1 VAR_066224 P35475:p.Asn348Lys SP substitution exon 1 VAR_066225 P35475:p.Pro385Arg SP substitution exon 1 VAR_066226 P35475:p.Leu396Pro SP substitution exon 1 VAR_066227 P35475:p.Ala436Pro SP substitution exon 1 VAR_066228 P35475:p.His449Asn SP substitution exon 1 VAR_066229 P35475:p.Pro496Arg SP substitution exon 1 VAR_066230 P35475:p.Leu535Phe SP substitution exon 1 VAR_066231 P35475:p.Ala591Thr SP substitution exon 1 VAR_066232 P22557:p.Lys156Glu SP substitution exon 1 VAR_066233 P22557:p.Arg170His SP substitution exon 1 VAR_066234 P22557:p.Arg218His SP substitution exon 1 VAR_066235 P22557:p.Glu242Lys SP substitution exon 1 VAR_066236 P22557:p.Asp263Asn SP substitution exon 1 VAR_066237 P22557:p.Pro339Leu SP substitution exon 1 VAR_066238 P22557:p.Arg375Cys SP substitution exon 1 VAR_066239 P22557:p.Arg411His SP substitution exon 1 VAR_066240 P22557:p.Arg452Gly SP substitution exon 1 VAR_066241 P22557:p.Arg452His SP substitution exon 1 VAR_066242 P22557:p.Pro520Leu SP substitution exon 1 VAR_066243 P22557:p.Arg572His SP substitution exon 1 VAR_066244 P22557:p.Tyr586Phe SP substitution exon 1 VAR_066247 P10746:p.Pro248Gln SP substitution exon 1 VAR_066249 P36382:p.Val85Ile SP substitution exon 1 VAR_066250 P36382:p.Leu221Ile SP substitution exon 1 VAR_066251 P36382:p.Leu229Met SP substitution exon 1 VAR_066252 Q8TAM1:p.Leu55Pro SP substitution exon 1 VAR_066253 Q8TAM1:p.Asp142Asn SP substitution exon 1 VAR_066254 Q8TAM1:p.Lys188Thr SP substitution exon 1 VAR_066255 Q8TAM1:p.Met255Ile SP substitution exon 1 VAR_066256 Q8TAM1:p.Ala296Thr SP substitution exon 1 VAR_066257 Q8TAM1:p.His410Gln SP substitution exon 1 VAR_066258 Q8TAM1:p.Leu600Ser SP substitution exon 1 VAR_066259 Q8TAM1:p.Ala636Val SP substitution exon 1 VAR_066260 Q8TAM1:p.Leu687Pro SP substitution exon 1 VAR_066261 Q8TAM1:p.His715Arg SP substitution exon 1 VAR_066262 Q9NPJ1:p.Gly41Arg SP substitution exon 1 VAR_066263 Q9NPJ1:p.Cys99Arg SP substitution exon 1 VAR_066264 Q9NPJ1:p.Pro299Leu SP substitution exon 1 VAR_066265 Q9NPJ1:p.Ala488Thr SP substitution exon 1 VAR_066266 Q6ZW61:p.Leu88Arg SP substitution exon 1 VAR_066267 Q6ZW61:p.Gly119Ser SP substitution exon 1 VAR_066268 Q6ZW61:p.Tyr263His SP substitution exon 1 VAR_066269 Q6ZW61:p.Gln293Glu SP substitution exon 1 VAR_066270 Q6ZW61:p.Arg355Gln SP substitution exon 1 VAR_066271 Q6ZW61:p.Val400Met SP substitution exon 1 VAR_066272 Q6ZW61:p.Lys408Arg SP substitution exon 1 VAR_066274 Q6ZW61:p.Tyr524Cys SP substitution exon 1 VAR_066275 Q6ZW61:p.Arg525His SP substitution exon 1 VAR_066276 Q6ZW61:p.Gly539Asp SP substitution exon 1 VAR_066277 Q6ZW61:p.Arg674Cys SP substitution exon 1 VAR_066278 Q8NFJ9:p.Ile330Thr SP substitution exon 1 VAR_066280 Q9BXC9:p.Gly81Cys SP substitution exon 1 VAR_066281 Q9BXC9:p.Leu125Arg SP substitution exon 1 VAR_066282 Q9BXC9:p.Ala136Pro SP substitution exon 1 VAR_066283 Q9BXC9:p.Cys307Trp SP substitution exon 1 VAR_066284 Q9BXC9:p.Tyr317Cys SP substitution exon 1 VAR_066285 Q9BXC9:p.Glu629Lys SP substitution exon 1 VAR_066286 Q8IWZ6:p.Gly63Arg SP substitution exon 1 VAR_066287 Q96RK4:p.Glu61Lys SP substitution exon 1 VAR_066290 Q8N3I7:p.Gly72Ser SP substitution exon 1 VAR_066291 Q8N3I7:p.Asn251Asp SP substitution exon 1 VAR_066295 Q13049:p.Arg299Gln SP substitution exon 1 VAR_066296 Q9H2U9:p.Pro14Ser SP substitution exon 1 VAR_066297 Q9H2U9:p.Arg31Cys SP substitution exon 1 VAR_066298 Q9H2U9:p.Pro36Ser SP substitution exon 1 VAR_066299 Q9H2U9:p.His106Tyr SP substitution exon 1 VAR_066300 Q9H2U9:p.Leu173Pro SP substitution exon 1 VAR_066301 Q9H2U9:p.Val180Ala SP substitution exon 1 VAR_066302 Q9H2U9:p.His243Tyr SP substitution exon 1 VAR_066303 Q9H2U9:p.Gly302Glu SP substitution exon 1 VAR_066304 Q9H2U9:p.Met359Ile SP substitution exon 1 VAR_066305 Q9H2U9:p.Gly533Glu SP substitution exon 1 VAR_066306 Q9H2U9:p.Phe593Leu SP substitution exon 1 VAR_066307 Q9H2U9:p.Glu639Lys SP substitution exon 1 VAR_066308 Q9H2U9:p.Ser703Asn SP substitution exon 1 VAR_066309 O14672:p.His176Tyr SP substitution exon 1 VAR_066310 O43184:p.Gly712Glu SP substitution exon 1 VAR_066312 Q9Y3Q7:p.Pro170Ser SP substitution exon 1 VAR_066313 Q9Y3Q7:p.Val284Gly SP substitution exon 1 VAR_066314 Q9Y3Q7:p.Met344Ile SP substitution exon 1 VAR_066315 Q9Y3Q7:p.Met362Lys SP substitution exon 1 VAR_066316 Q9Y3Q7:p.Ser536Leu SP substitution exon 1 VAR_066317 Q9UKQ2:p.Gly65Glu SP substitution exon 1 VAR_066318 Q9UKQ2:p.Gly134Glu SP substitution exon 1 VAR_066322 Q9UKF5:p.Leu72Phe SP substitution exon 1 VAR_066323 Q9UKF5:p.Ile89Met SP substitution exon 1 VAR_066324 Q9UKF5:p.Glu111Lys SP substitution exon 1 VAR_066325 Q9UKF5:p.Ser112Phe SP substitution exon 1 VAR_066326 Q9UKF5:p.Ser115Phe SP substitution exon 1 VAR_066327 Q9UKF5:p.Asp131Asn SP substitution exon 1 VAR_066328 Q9UKF5:p.Glu176Lys SP substitution exon 1 VAR_066329 Q9UKF5:p.Ser234Phe SP substitution exon 1 VAR_066330 Q9UKF5:p.Ile257Phe SP substitution exon 1 VAR_066331 Q9UKF5:p.Gly305Glu SP substitution exon 1 VAR_066332 Q9UKF5:p.Asp345Asn SP substitution exon 1 VAR_066333 Q9UKF5:p.Gly403Asp SP substitution exon 1 VAR_066334 Q9UKF5:p.Gly434Asp SP substitution exon 1 VAR_066335 Q9UKF5:p.Glu503Lys SP substitution exon 1 VAR_066336 Q9UKF5:p.His533Tyr SP substitution exon 1 VAR_066337 Q9BZ11:p.Ala305Val SP substitution exon 1 VAR_066338 Q7Z406:p.Arg933Leu SP substitution exon 1 VAR_066339 Q7Z406:p.Ala1154Val SP substitution exon 1 VAR_066340 Q15399:p.Ser44Pro SP substitution exon 1 VAR_066341 Q15399:p.Ile75Thr SP substitution exon 1 VAR_066342 Q15399:p.His352Asn SP substitution exon 1 VAR_066343 Q15399:p.Ile460Val SP substitution exon 1 VAR_066344 Q15399:p.Val542Ala SP substitution exon 1 VAR_066345 Q15399:p.Tyr554Cys SP substitution exon 1 VAR_066346 Q15399:p.Val651Ala SP substitution exon 1 VAR_066347 Q15399:p.Val674Ala SP substitution exon 1 VAR_066348 Q15399:p.His720Pro SP substitution exon 1 VAR_066349 O60603:p.Asn89Asp SP substitution exon 1 VAR_066350 O60603:p.Arg571His SP substitution exon 1 VAR_066351 O60603:p.Ser636Arg SP substitution exon 1 VAR_066352 Q9Y2C9:p.Leu128Val SP substitution exon 1 VAR_066353 Q9Y2C9:p.Ala210Gly SP substitution exon 1 VAR_066354 Q9Y2C9:p.Ala210Thr SP substitution exon 1 VAR_066355 Q9Y2C9:p.Ile283Val SP substitution exon 1 VAR_066356 Q9Y2C9:p.Asp442Ala SP substitution exon 1 VAR_066357 Q9Y2C9:p.Ala474Val SP substitution exon 1 VAR_066358 Q9Y2C9:p.Gly592Val SP substitution exon 1 VAR_066359 Q9Y2C9:p.Asn690Thr SP substitution exon 1 VAR_066360 Q9Y2C9:p.Gln708His SP substitution exon 1 VAR_066361 Q86YC2:p.His46Tyr SP substitution exon 1 VAR_066362 Q86YC2:p.Asp219Gly SP substitution exon 1 VAR_066363 Q86YC2:p.Tyr334Cys SP substitution exon 1 VAR_066364 Q86YC2:p.Leu337Ser SP substitution exon 1 VAR_066365 Q86YC2:p.Arg414Gln SP substitution exon 1 VAR_066366 Q86YC2:p.Val425Met SP substitution exon 1 VAR_066367 Q86YC2:p.Ala491Thr SP substitution exon 1 VAR_066368 Q86YC2:p.Lys515Arg SP substitution exon 1 VAR_066369 Q86YC2:p.Gln559Arg SP substitution exon 1 VAR_066370 Q86YC2:p.Glu672Gln SP substitution exon 1 VAR_066371 Q86YC2:p.Ala712Val SP substitution exon 1 VAR_066372 Q86YC2:p.Phe728Leu SP substitution exon 1 VAR_066373 Q86YC2:p.Val917Ala SP substitution exon 1 VAR_066374 Q86YC2:p.Val932Met SP substitution exon 1 VAR_066375 Q86YC2:p.Leu939Trp SP substitution exon 1 VAR_066376 Q86YC2:p.Ile966Val SP substitution exon 1 VAR_066377 Q86YC2:p.Gly998Glu SP substitution exon 1 VAR_066378 Q86YC2:p.Ala1025Thr SP substitution exon 1 VAR_066379 Q86YC2:p.Gly1043Ala SP substitution exon 1 VAR_066380 Q86YC2:p.Ser1075Gly SP substitution exon 1 VAR_066381 Q86YC2:p.Val1105Ala SP substitution exon 1 VAR_066382 Q86YC2:p.Gln1114His SP substitution exon 1 VAR_066383 Q86YC2:p.Leu1143Pro SP substitution exon 1 VAR_066384 Q86YC2:p.His1170Tyr SP substitution exon 1 VAR_066385 P02452:p.Asp1219Asn SP substitution exon 1 VAR_066386 P08123:p.Ala1119Thr SP substitution exon 1 VAR_066389 Q9H582:p.Ile587Val SP substitution exon 1 VAR_066390 Q9H582:p.Ser672Gly SP substitution exon 1 VAR_066391 Q9H582:p.Arg680Gly SP substitution exon 1 VAR_066392 Q9H582:p.Cys699Tyr SP substitution exon 1 VAR_066393 Q9NQX1:p.Tyr107Cys SP substitution exon 1 VAR_066394 O43826:p.Gly50Glu SP substitution exon 1 VAR_066395 O43826:p.Ala148Val SP substitution exon 1 VAR_066396 O43826:p.Trp246Arg SP substitution exon 1 VAR_066397 O43826:p.Arg300Cys SP substitution exon 1 VAR_066398 O60353:p.Arg511Cys SP substitution exon 1 VAR_066399 P51178:p.Thr209Arg SP substitution exon 1 VAR_066400 P51178:p.Ile574Thr SP substitution exon 1 VAR_066402 O95427:p.Arg709Gln SP substitution exon 1 VAR_066404 Q9Y6N6:p.Gly350Arg SP substitution exon 1 VAR_066405 P23769:p.Pro254Leu SP substitution exon 1 VAR_066406 P23769:p.Thr354Met SP substitution exon 1 VAR_066407 P23769:p.Arg398Trp SP substitution exon 1 VAR_066409 Q07973:p.Arg159Gln SP substitution exon 1 VAR_066410 Q07973:p.Glu322Lys SP substitution exon 1 VAR_066411 Q07973:p.Arg396Trp SP substitution exon 1 VAR_066412 Q5H8C1:p.Leu1324Arg SP substitution exon 1 VAR_066413 Q5H8C1:p.Val2091Ile SP substitution exon 1 VAR_066414 P54821:p.Phe113Ser SP substitution exon 1 VAR_066416 P08F94:p.Arg92Trp SP substitution exon 1 VAR_066417 P08F94:p.Ile246Thr SP substitution exon 1 VAR_066418 P08F94:p.Tyr255Cys SP substitution exon 1 VAR_066419 P08F94:p.Ile292Val SP substitution exon 1 VAR_066420 P08F94:p.Ala293Val SP substitution exon 1 VAR_066421 P08F94:p.Gly466Glu SP substitution exon 1 VAR_066422 P08F94:p.Gly470Val SP substitution exon 1 VAR_066423 P08F94:p.Ile539Thr SP substitution exon 1 VAR_066424 P08F94:p.His686Pro SP substitution exon 1 VAR_066425 P08F94:p.Arg723Cys SP substitution exon 1 VAR_066426 P08F94:p.Pro724Arg SP substitution exon 1 VAR_066427 P08F94:p.Gly1712Arg SP substitution exon 1 VAR_066428 P08F94:p.Val1817Gly SP substitution exon 1 VAR_066429 P08F94:p.Val1875Gly SP substitution exon 1 VAR_066430 P08F94:p.Trp1928Leu SP substitution exon 1 VAR_066431 P08F94:p.Ala2009Thr SP substitution exon 1 VAR_066432 P08F94:p.Leu2106Arg SP substitution exon 1 VAR_066433 P08F94:p.Gly2210Glu SP substitution exon 1 VAR_066434 P08F94:p.Ser2219Leu SP substitution exon 1 VAR_066435 P08F94:p.Gly2224Arg SP substitution exon 1 VAR_066436 P08F94:p.Cys2422Arg SP substitution exon 1 VAR_066437 P08F94:p.Glu2431Val SP substitution exon 1 VAR_066438 P08F94:p.Arg2573Cys SP substitution exon 1 VAR_066439 P08F94:p.Tyr2661His SP substitution exon 1 VAR_066440 P08F94:p.Val2798Gly SP substitution exon 1 VAR_066441 P08F94:p.Cys2803Arg SP substitution exon 1 VAR_066442 P08F94:p.Met2804Lys SP substitution exon 1 VAR_066443 P08F94:p.His3049Arg SP substitution exon 1 VAR_066444 P08F94:p.Ala3207Thr SP substitution exon 1 VAR_066445 P08F94:p.Val3219Ala SP substitution exon 1 VAR_066446 P08F94:p.Arg3957Cys SP substitution exon 1 VAR_066447 P57679:p.Ser206Asn SP substitution exon 1 VAR_066448 P57679:p.Leu623Pro SP substitution exon 1 VAR_066450 Q2M1P5:p.Pro632Leu SP substitution exon 1 VAR_066451 Q2M1P5:p.Arg641Gly SP substitution exon 1 VAR_066452 Q2M1P5:p.Arg702Gln SP substitution exon 1 VAR_066453 Q2M1P5:p.Leu759Pro SP substitution exon 1 VAR_066454 Q2M1P5:p.Gln834Arg SP substitution exon 1 VAR_066455 Q2M1P5:p.Gln994Arg SP substitution exon 1 VAR_066456 Q2M1P5:p.Arg1068Trp SP substitution exon 1 VAR_066457 Q2M1P5:p.His1115Gln SP substitution exon 1 VAR_066459 Q8IWZ6:p.Gln293Pro SP substitution exon 1 VAR_066460 P16234:p.Arg481Gly SP substitution exon 1 VAR_066461 P16234:p.Leu507Pro SP substitution exon 1 VAR_066462 P16234:p.Val561Asp SP substitution exon 1 VAR_066463 P16234:p.Ile562Met SP substitution exon 1 VAR_066464 P16234:p.His570Arg SP substitution exon 1 VAR_066465 P16234:p.His650Gln SP substitution exon 1 VAR_066466 P16234:p.Asn659Lys SP substitution exon 1 VAR_066467 P16234:p.Asn659Ser SP substitution exon 1 VAR_066476 Q68CZ1:p.Ser199Gly SP substitution exon 1 VAR_066477 Q68CZ1:p.Ala229Thr SP substitution exon 1 VAR_066478 Q68CZ1:p.Leu447Ser SP substitution exon 1 VAR_066479 Q68CZ1:p.Leu546Phe SP substitution exon 1 VAR_066480 Q68CZ1:p.Val647Ile SP substitution exon 1 VAR_066481 Q68CZ1:p.Arg937Leu SP substitution exon 1 VAR_066482 Q68CZ1:p.Arg1236Cys SP substitution exon 1 VAR_066484 Q8TCI5:p.Arg80Lys SP substitution exon 1 VAR_066485 Q8NFJ9:p.Leu206Val SP substitution exon 1 VAR_066486 Q8NFJ9:p.Pro245Leu SP substitution exon 1 VAR_066487 Q9NR28:p.Ser126Leu SP substitution exon 1 VAR_066488 O60928:p.Gln117Arg SP substitution exon 1 VAR_066489 O60928:p.Arg162Gln SP substitution exon 1 VAR_066490 O60928:p.Leu241Pro SP substitution exon 1 VAR_066491 O60928:p.Glu276Ala SP substitution exon 1 VAR_066492 P55268:p.His147Arg SP substitution exon 1 VAR_066494 Q96MR6:p.Asp523Tyr SP substitution exon 1 VAR_066495 Q9NP72:p.Leu24Gln SP substitution exon 1 VAR_066497 Q4KMG0:p.Thr684Ser SP substitution exon 1 VAR_066498 Q4KMG0:p.Pro689Ala SP substitution exon 1 VAR_066499 Q4KMG0:p.Val691Met SP substitution exon 1 VAR_066500 Q4KMG0:p.Val780Glu SP substitution exon 1 VAR_066501 Q4KMG0:p.Thr790Ala SP substitution exon 1 VAR_066502 Q4KMG0:p.Ser940Arg SP substitution exon 1 VAR_066503 O95263:p.His305Pro SP substitution exon 1 VAR_066504 Q4G176:p.Met198Arg SP substitution exon 1 VAR_066505 Q4G176:p.Pro243Leu SP substitution exon 1 VAR_066514 P80365:p.Asp223Asn SP substitution exon 1 VAR_066515 P80365:p.Arg337Cys SP substitution exon 1 VAR_066516 O14802:p.Asp372Asn SP substitution exon 1 VAR_066517 O14802:p.Phe558Leu SP substitution exon 1 VAR_066518 O14802:p.Ser636Tyr SP substitution exon 1 VAR_066519 O14802:p.Gly672Glu SP substitution exon 1 VAR_066520 O14802:p.Cys724Tyr SP substitution exon 1 VAR_066521 O14802:p.Asn775Ile SP substitution exon 1 VAR_066522 O14802:p.Met852Val SP substitution exon 1 VAR_066523 O14802:p.Arg1005Cys SP substitution exon 1 VAR_066525 P53621:p.Ile164Val SP substitution exon 1 VAR_066526 Q14004:p.Gln103Arg SP substitution exon 1 VAR_066543 Q86TH1:p.Trp50Cys SP substitution exon 1 VAR_066544 Q86TH1:p.Arg72Gln SP substitution exon 1 VAR_066545 Q86TH1:p.Arg159Trp SP substitution exon 1 VAR_066546 Q86TH1:p.Ala165Thr SP substitution exon 1 VAR_066547 Q86TH1:p.Cys171Arg SP substitution exon 1 VAR_066548 Q86TH1:p.Arg221Cys SP substitution exon 1 VAR_066549 Q86TH1:p.Ala239Thr SP substitution exon 1 VAR_066551 Q86TH1:p.Arg593Cys SP substitution exon 1 VAR_066552 Q86TH1:p.Ser635Leu SP substitution exon 1 VAR_066553 Q86TH1:p.Pro906Leu SP substitution exon 1 VAR_066554 Q8TE60:p.Ser179Leu SP substitution exon 1 VAR_066555 Q9H3Z4:p.Leu115Arg SP substitution exon 1 VAR_066557 Q7Z5M5:p.Val196Ile SP substitution exon 1 VAR_066558 Q7Z5M5:p.Cys893Tyr SP substitution exon 1 VAR_066559 Q7Z5M5:p.Arg1012Lys SP substitution exon 1 VAR_066560 Q7Z5M5:p.Asp1099Asn SP substitution exon 1 VAR_066561 Q5VIR6:p.Leu375Arg SP substitution exon 1 VAR_066562 Q9UHD9:p.Pro497His SP substitution exon 1 VAR_066563 Q9UHD9:p.Pro497Ser SP substitution exon 1 VAR_066564 Q9UHD9:p.Pro506Thr SP substitution exon 1 VAR_066565 Q9UHD9:p.Pro509Ser SP substitution exon 1 VAR_066566 Q9UHD9:p.Pro525Ser SP substitution exon 1 VAR_066567 P23786:p.Pro504Leu SP substitution exon 1 VAR_066568 P23786:p.Val605Leu SP substitution exon 1 VAR_066569 Q9Y5U9:p.Val21Gly SP substitution exon 1 VAR_066570 Q9Y5U9:p.Leu78Pro SP substitution exon 1 VAR_066571 Q04637:p.Pro71Ser SP substitution exon 1 VAR_066573 Q04637:p.Ala502Val SP substitution exon 1 VAR_066574 Q04637:p.Gly686Cys SP substitution exon 1 VAR_066575 Q04637:p.Ile806Val SP substitution exon 1 VAR_066581 P21757:p.Pro36Ala SP substitution exon 1 VAR_066582 P21757:p.Ser41Tyr SP substitution exon 1 VAR_066583 P21757:p.Val113Ala SP substitution exon 1 VAR_066584 P21757:p.Asp174Tyr SP substitution exon 1 VAR_066585 P21757:p.Leu254Val SP substitution exon 1 VAR_066586 P21757:p.Gly369Ser SP substitution exon 1 VAR_066587 P21757:p.His441Arg SP substitution exon 1 VAR_066588 Q8N9N2:p.Asn318Ser SP substitution exon 1 VAR_066589 Q96CG8:p.Gln44Pro SP substitution exon 1 VAR_066590 Q9HCN6:p.Arg58Cys SP substitution exon 1 VAR_066591 Q9HCN6:p.Ser175Asn SP substitution exon 1 VAR_066592 Q9UKM7:p.Arg334Cys SP substitution exon 1 VAR_066594 Q11203:p.Ala13Asp SP substitution exon 1 VAR_066596 Q9ULK4:p.Pro617Gln SP substitution exon 1 VAR_066598 Q05586:p.Glu662Lys SP substitution exon 1 VAR_066599 Q9Y698:p.Val143Leu SP substitution exon 1 VAR_066600 Q9H4G0:p.Pro854Ser SP substitution exon 1 VAR_066601 Q8IYL2:p.Met300Leu SP substitution exon 1 VAR_066602 Q8IYL2:p.Ile455Val SP substitution exon 1 VAR_066603 Q8IYL2:p.Gly641Ala SP substitution exon 1 VAR_066604 O15146:p.Met605Ile SP substitution exon 1 VAR_066605 O15146:p.Ala727Val SP substitution exon 1 VAR_066612 Q9HBG4:p.Phe554Leu SP substitution exon 1 VAR_066613 Q9HBG4:p.His604Gln SP substitution exon 1 VAR_066614 Q9Y3Q4:p.Ala485Val SP substitution exon 1 VAR_066615 P35557:p.Thr342Pro SP substitution exon 1 VAR_066616 Q12840:p.Ser203Cys SP substitution exon 1 VAR_066617 Q9NSK7:p.Thr11Met SP substitution exon 1 VAR_066618 Q9NSK7:p.Gly53Arg SP substitution exon 1 VAR_066619 Q9NSK7:p.Gly65Glu SP substitution exon 1 VAR_066620 Q9NSK7:p.Gly69Arg SP substitution exon 1 VAR_066623 P41221:p.Cys83Ser SP substitution exon 1 VAR_066624 O94766:p.Arg277Gln SP substitution exon 1 VAR_066625 Q03167:p.Pro777Ser SP substitution exon 1 VAR_066627 P49459:p.Arg11Gln SP substitution exon 1 VAR_066628 P49459:p.Gly23Arg SP substitution exon 1 VAR_066629 P41221:p.Cys182Arg SP substitution exon 1 VAR_066630 O75096:p.Arg1170Trp SP substitution exon 1 VAR_066631 O75096:p.Trp1186Ser SP substitution exon 1 VAR_066632 P52895:p.Ile79Val SP substitution exon 1 VAR_066633 P52895:p.His90Gln SP substitution exon 1 VAR_066634 P52895:p.His222Gln SP substitution exon 1 VAR_066635 P52895:p.Asn300Thr SP substitution exon 1 VAR_066637 Q8IVL5:p.Gly508Val SP substitution exon 1 VAR_066638 Q969N4:p.Val211Asp SP substitution exon 1 VAR_066639 Q9UMS0:p.Gly208Cys SP substitution exon 1 VAR_066640 P55263:p.Gly30Glu SP substitution exon 1 VAR_066641 P55263:p.Asp235Ala SP substitution exon 1 VAR_066642 P55263:p.Ala318Glu SP substitution exon 1 VAR_066644 P23769:p.Arg361Pro SP substitution exon 1 VAR_066645 P23769:p.Cys373Arg SP substitution exon 1 VAR_066646 Q9UBH0:p.Leu27Pro SP substitution exon 1 VAR_066647 Q9UBH0:p.Arg48Trp SP substitution exon 1 VAR_066648 Q9UBH0:p.Ser113Leu SP substitution exon 1 VAR_066649 Q12756:p.Thr99Met SP substitution exon 1 VAR_066650 Q12756:p.Ala255Val SP substitution exon 1 VAR_066651 Q14204:p.His306Arg SP substitution exon 1 VAR_066652 P41227:p.Ser37Pro SP substitution exon 1 VAR_066653 Q96QK1:p.Gly51Ser SP substitution exon 1 VAR_066654 Q96QK1:p.Met57Ile SP substitution exon 1 VAR_066655 Q96QK1:p.Thr82Arg SP substitution exon 1 VAR_066656 Q96QK1:p.Ile241Met SP substitution exon 1 VAR_066657 Q96QK1:p.Pro316Ser SP substitution exon 1 VAR_066662 P20702:p.Ala1012Val SP substitution exon 1 VAR_066663 Q8NB59:p.Gly138Glu SP substitution exon 1 VAR_066664 Q8NB59:p.Gly439Asp SP substitution exon 1 VAR_066665 O75445:p.Gln4203Arg SP substitution exon 1 VAR_066666 Q14626:p.Pro221Arg SP substitution exon 1 VAR_066667 Q14626:p.Ser245Cys SP substitution exon 1 VAR_066668 Q14626:p.Arg296Trp SP substitution exon 1 VAR_066670 Q9NZR4:p.Leu17Pro SP substitution exon 1 VAR_066671 Q9NZR4:p.Arg131Ser SP substitution exon 1 VAR_066672 Q9NZR4:p.Ala256Ser SP substitution exon 1 VAR_066673 P58418:p.Pro31Leu SP substitution exon 1 VAR_066674 P58418:p.Leu154Trp SP substitution exon 1 VAR_066677 Q9NVV9:p.Ser6Phe SP substitution exon 1 VAR_066678 Q9NVV9:p.Ser6Pro SP substitution exon 1 VAR_066679 Q9NVV9:p.Tyr8Cys SP substitution exon 1 VAR_066680 Q9NVV9:p.Gly9Cys SP substitution exon 1 VAR_066681 Q9NVV9:p.Arg13His SP substitution exon 1 VAR_066682 Q9NVV9:p.Lys16Glu SP substitution exon 1 VAR_066683 Q9NVV9:p.Asp17Gly SP substitution exon 1 VAR_066684 Q9NVV9:p.His23Pro SP substitution exon 1 VAR_066685 Q9NVV9:p.Lys24Glu SP substitution exon 1 VAR_066686 Q9NVV9:p.Pro26Leu SP substitution exon 1 VAR_066687 Q9NVV9:p.Pro26Arg SP substitution exon 1 VAR_066688 Q9NVV9:p.Arg29Gln SP substitution exon 1 VAR_066689 Q9NVV9:p.Pro30Arg SP substitution exon 1 VAR_066690 Q9NVV9:p.Leu32His SP substitution exon 1 VAR_066691 Q9NVV9:p.Cys54Phe SP substitution exon 1 VAR_066692 Q9NVV9:p.His57Asn SP substitution exon 1 VAR_066694 Q9NVV9:p.Leu72Arg SP substitution exon 1 VAR_066695 Q9NVV9:p.Asn75Ile SP substitution exon 1 VAR_066696 Q9NVV9:p.Ile80Val SP substitution exon 1 VAR_066697 Q9NVV9:p.Cys83Arg SP substitution exon 1 VAR_066698 Q9NVV9:p.Phe132Ser SP substitution exon 1 VAR_066699 Q9NVV9:p.Asn136Ser SP substitution exon 1 VAR_066700 Q9NVV9:p.Tyr137Cys SP substitution exon 1 VAR_066701 Q9NVV9:p.Met143Val SP substitution exon 1 VAR_066702 Q9NVV9:p.Ile149Thr SP substitution exon 1 VAR_066703 Q9NVV9:p.His150Pro SP substitution exon 1 VAR_066704 Q9NVV9:p.Ala166Thr SP substitution exon 1 VAR_066705 Q9NVV9:p.Arg169Gln SP substitution exon 1 VAR_066706 Q9NVV9:p.Glu174Gly SP substitution exon 1 VAR_066707 Q9NVV9:p.Leu180Ser SP substitution exon 1 VAR_066708 Q9NVV9:p.Gln187Lys SP substitution exon 1 VAR_066709 Q9NVV9:p.Asp192Asn SP substitution exon 1 VAR_066710 Q9Y6H8:p.Gly2Asp SP substitution exon 1 VAR_066711 Q9Y6H8:p.Asp3Tyr SP substitution exon 1 VAR_066712 Q9Y6H8:p.Val28Met SP substitution exon 1 VAR_066713 Q9Y6H8:p.Arg33Leu SP substitution exon 1 VAR_066714 Q9Y6H8:p.Val44Met SP substitution exon 1 VAR_066715 Q9Y6H8:p.Asp47Asn SP substitution exon 1 VAR_066716 Q9Y6H8:p.Arg76Gly SP substitution exon 1 VAR_066717 Q9Y6H8:p.Thr87Met SP substitution exon 1 VAR_066718 Q9Y6H8:p.Pro187Ser SP substitution exon 1 VAR_066719 Q9Y6H8:p.Asn188Thr SP substitution exon 1 VAR_066720 P36897:p.Asp266Tyr SP substitution exon 1 VAR_066721 P36897:p.Asp351Gly SP substitution exon 1 VAR_066722 P36897:p.Thr375Ile SP substitution exon 1 VAR_066732 O43556:p.Thr36Arg SP substitution exon 1 VAR_066733 O43556:p.His60Pro SP substitution exon 1 VAR_066734 O43556:p.His60Arg SP substitution exon 1 VAR_066735 O43556:p.Met92Thr SP substitution exon 1 VAR_066736 O43556:p.Trp100Gly SP substitution exon 1 VAR_066737 O43556:p.Gly112Arg SP substitution exon 1 VAR_066738 O43556:p.Tyr115Cys SP substitution exon 1 VAR_066739 O43556:p.Leu175Ser SP substitution exon 1 VAR_066740 O43556:p.Ser177Cys SP substitution exon 1 VAR_066741 O43556:p.Leu184Pro SP substitution exon 1 VAR_066742 O43556:p.Trp270Arg SP substitution exon 1 VAR_066743 O43556:p.Cys271Tyr SP substitution exon 1 VAR_066744 Q14108:p.His363Asn SP substitution exon 1 VAR_066745 Q14108:p.Glu471Gly SP substitution exon 1 VAR_066747 P56693:p.Arg106Trp SP substitution exon 1 VAR_066748 P56693:p.Met112Ile SP substitution exon 1 VAR_066749 P56693:p.Asn131His SP substitution exon 1 VAR_066750 P56693:p.Leu145Pro SP substitution exon 1 VAR_066751 P56693:p.Lys150Asn SP substitution exon 1 VAR_066752 P56693:p.Ala157Val SP substitution exon 1 VAR_066753 P56693:p.Arg161His SP substitution exon 1 VAR_066754 P56693:p.Gln174Pro SP substitution exon 1 VAR_066755 P56693:p.Pro175Ala SP substitution exon 1 VAR_066756 P56693:p.Pro175Leu SP substitution exon 1 VAR_066757 P56693:p.Pro175Arg SP substitution exon 1 VAR_066758 P56693:p.Gly321Arg SP substitution exon 1 VAR_066759 Q9H694:p.Asn711Thr SP substitution exon 1 VAR_066760 Q9H694:p.Glu932Gly SP substitution exon 1 VAR_066761 Q8TD43:p.Ala101Thr SP substitution exon 1 VAR_066762 Q8TD43:p.Tyr103Cys SP substitution exon 1 VAR_066763 Q8TD43:p.Gln131His SP substitution exon 1 VAR_066764 Q8TD43:p.Arg164Trp SP substitution exon 1 VAR_066765 Q8TD43:p.Arg252His SP substitution exon 1 VAR_066766 Q8TD43:p.Gln293Arg SP substitution exon 1 VAR_066767 Q8TD43:p.Ala432Thr SP substitution exon 1 VAR_066769 Q8TD43:p.Asp561Ala SP substitution exon 1 VAR_066770 Q8TD43:p.Gly582Ser SP substitution exon 1 VAR_066771 Q8TD43:p.Tyr790His SP substitution exon 1 VAR_066772 Q8TD43:p.Gly844Asp SP substitution exon 1 VAR_066773 Q8TD43:p.Gln854Arg SP substitution exon 1 VAR_066774 Q8TD43:p.Lys914Arg SP substitution exon 1 VAR_066775 Q8TD43:p.Pro970Ser SP substitution exon 1 VAR_066777 O95817:p.Pro77Leu SP substitution exon 1 VAR_066778 O95817:p.Ile94Phe SP substitution exon 1 VAR_066779 O95817:p.Pro115Ser SP substitution exon 1 VAR_066780 O95817:p.Ala155Thr SP substitution exon 1 VAR_066781 O95817:p.Arg218Trp SP substitution exon 1 VAR_066782 O95817:p.Arg258Trp SP substitution exon 1 VAR_066783 O95817:p.Asp300Asn SP substitution exon 1 VAR_066784 O95817:p.Pro380Ser SP substitution exon 1 VAR_066785 O95817:p.Glu455Lys SP substitution exon 1 VAR_066786 O95817:p.Leu462Pro SP substitution exon 1 VAR_066787 O95817:p.Val468Met SP substitution exon 1 VAR_066788 O95817:p.Glu553Asp SP substitution exon 1 VAR_066789 P49747:p.Gly167Glu SP substitution exon 1 VAR_066790 P49747:p.Pro234Ser SP substitution exon 1 VAR_066791 P49747:p.Asp290Gly SP substitution exon 1 VAR_066792 P49747:p.Ser298Leu SP substitution exon 1 VAR_066793 P49747:p.Ala311Asp SP substitution exon 1 VAR_066794 P49747:p.Asp317Gly SP substitution exon 1 VAR_066795 P49747:p.Asp326Gly SP substitution exon 1 VAR_066796 P49747:p.Asp326Tyr SP substitution exon 1 VAR_066798 P49747:p.Cys348Phe SP substitution exon 1 VAR_066800 P49747:p.Cys371Tyr SP substitution exon 1 VAR_066801 P49747:p.Asp374Asn SP substitution exon 1 VAR_066802 P49747:p.Asp376Asn SP substitution exon 1 VAR_066803 P49747:p.Asp378Val SP substitution exon 1 VAR_066804 P49747:p.Asp385Asn SP substitution exon 1 VAR_066805 P49747:p.Asp385Tyr SP substitution exon 1 VAR_066807 P49747:p.Cys387Arg SP substitution exon 1 VAR_066808 P49747:p.Asp397His SP substitution exon 1 VAR_066810 P49747:p.Gly404Arg SP substitution exon 1 VAR_066811 P49747:p.Cys410Tyr SP substitution exon 1 VAR_066812 P49747:p.Asn415Lys SP substitution exon 1 VAR_066813 P49747:p.Gly427Glu SP substitution exon 1 VAR_066815 P49747:p.Asp446Asn SP substitution exon 1 VAR_066816 P49747:p.Cys448Ser SP substitution exon 1 VAR_066819 P49747:p.Asp473His SP substitution exon 1 VAR_066820 P49747:p.Asp475Asn SP substitution exon 1 VAR_066821 P49747:p.Gly501Asp SP substitution exon 1 VAR_066822 P49747:p.Asp507Gly SP substitution exon 1 VAR_066823 P49747:p.Asp511Gly SP substitution exon 1 VAR_066824 P49747:p.Asp515Gly SP substitution exon 1 VAR_066825 P49747:p.Thr529Ile SP substitution exon 1 VAR_066826 P49747:p.Arg718Pro SP substitution exon 1 VAR_066827 P49747:p.Arg718Trp SP substitution exon 1 VAR_066828 P49747:p.Gly719Ser SP substitution exon 1 VAR_066831 O15232:p.Ala173Asp SP substitution exon 1 VAR_066832 O15232:p.Arg209Pro SP substitution exon 1 VAR_066833 O15232:p.Lys231Asn SP substitution exon 1 VAR_066834 O15232:p.Val245Met SP substitution exon 1 VAR_066835 P50443:p.Phe256Ser SP substitution exon 1 VAR_066836 P02458:p.Gly1176Val SP substitution exon 1 VAR_066837 P02458:p.Gly1179Arg SP substitution exon 1 VAR_066838 P54278:p.Ser46Ile SP substitution exon 1 VAR_066839 P15884:p.Gly358Val SP substitution exon 1 VAR_066843 O76082:p.Ser26Asn SP substitution exon 1 VAR_066844 O76082:p.Ser280Phe SP substitution exon 1 VAR_066845 O76082:p.Arg471Pro SP substitution exon 1 VAR_066846 O76082:p.Arg488His SP substitution exon 1 VAR_066849 Q9BX79:p.Gly304Lys SP substitution exon 1 VAR_066850 Q96MT3:p.Ile69Thr SP substitution exon 1 VAR_066851 Q96MT3:p.Asn81His SP substitution exon 1 VAR_066852 Q96MT3:p.Val121Ile SP substitution exon 1 VAR_066853 Q96MT3:p.Ala124Thr SP substitution exon 1 VAR_066854 Q96MT3:p.Thr275Met SP substitution exon 1 VAR_066855 Q96MT3:p.Arg682Cys SP substitution exon 1 VAR_066856 Q96MT3:p.Ser739Phe SP substitution exon 1 VAR_066857 Q96MT3:p.Asp771Asn SP substitution exon 1 VAR_066858 Q96MT3:p.Ser799Cys SP substitution exon 1 VAR_066860 Q16281:p.Leu527Met SP substitution exon 1 VAR_066861 Q13402:p.Thr193Ile SP substitution exon 1 VAR_066862 P04180:p.Trp99Ser SP substitution exon 1 VAR_066864 P04180:p.Val246Phe SP substitution exon 1 VAR_066865 P04180:p.Arg268Cys SP substitution exon 1 VAR_066866 P04180:p.Arg322Cys SP substitution exon 1 VAR_066867 P04180:p.Leu338Phe SP substitution exon 1 VAR_066868 P04180:p.Arg347Cys SP substitution exon 1 VAR_066869 Q15797:p.Val3Ala SP substitution exon 1 VAR_066870 Q13485:p.Asn13Ser SP substitution exon 1 VAR_066871 O15198:p.Lys43Glu SP substitution exon 1 VAR_066872 Q69YQ0:p.Thr190Met SP substitution exon 1 VAR_066873 Q69YQ0:p.Gln415Pro SP substitution exon 1 VAR_066874 P50897:p.Cys45Tyr SP substitution exon 1 VAR_066875 P50897:p.Ser138Leu SP substitution exon 1 VAR_066876 P50897:p.Cys152Tyr SP substitution exon 1 VAR_066877 P50897:p.His187Arg SP substitution exon 1 VAR_066878 P50897:p.Pro189Arg SP substitution exon 1 VAR_066879 P50897:p.Leu222Pro SP substitution exon 1 VAR_066880 P50897:p.Val228Gly SP substitution exon 1 VAR_066881 P50897:p.Trp296Arg SP substitution exon 1 VAR_066882 P50897:p.Leu305Pro SP substitution exon 1 VAR_066883 O14773:p.Ser62Thr SP substitution exon 1 VAR_066884 O14773:p.Tyr209His SP substitution exon 1 VAR_066885 O14773:p.Arg266Gln SP substitution exon 1 VAR_066892 Q13286:p.Cys134Arg SP substitution exon 1 VAR_066893 Q13286:p.Gly187Ala SP substitution exon 1 VAR_066894 Q13286:p.Gly189Arg SP substitution exon 1 VAR_066895 O75503:p.Trp26Arg SP substitution exon 1 VAR_066896 O75503:p.Cys77Tyr SP substitution exon 1 VAR_066897 O75503:p.Asn143Ser SP substitution exon 1 VAR_066898 O75503:p.Leu149Pro SP substitution exon 1 VAR_066899 O75503:p.Pro156Ser SP substitution exon 1 VAR_066900 O75503:p.Trp158Arg SP substitution exon 1 VAR_066901 O75503:p.Trp158Ser SP substitution exon 1 VAR_066902 O75503:p.Asn193Lys SP substitution exon 1 VAR_066903 O75503:p.Tyr325Cys SP substitution exon 1 VAR_066904 Q9NWW5:p.Ala12Thr SP substitution exon 1 VAR_066905 Q9NWW5:p.Gly17Ser SP substitution exon 1 VAR_066906 Q9NWW5:p.Asn90Lys SP substitution exon 1 VAR_066907 Q9NWW5:p.Ser104Phe SP substitution exon 1 VAR_066908 Q9NWW5:p.Arg149Cys SP substitution exon 1 VAR_066909 Q9NWW5:p.Leu169Pro SP substitution exon 1 VAR_066910 Q9NWW5:p.Phe186Ser SP substitution exon 1 VAR_066911 Q9NWW5:p.Phe234Leu SP substitution exon 1 VAR_066912 Q9NWW5:p.Arg252His SP substitution exon 1 VAR_066913 Q9NWW5:p.Gly259Ser SP substitution exon 1 VAR_066914 Q9NWW5:p.Pro297Thr SP substitution exon 1 VAR_066915 Q8NHS3:p.Thr160Ile SP substitution exon 1 VAR_066916 Q8NHS3:p.Thr160Asn SP substitution exon 1 VAR_066917 Q8NHS3:p.Thr458Lys SP substitution exon 1 VAR_066918 Q8NHS3:p.Arg465Gln SP substitution exon 1 VAR_066919 Q8NHS3:p.Met470Val SP substitution exon 1 VAR_066920 Q9UBY8:p.Arg70His SP substitution exon 1 VAR_066921 Q9UBY8:p.Gln76Arg SP substitution exon 1 VAR_066922 Q9UBY8:p.Ile107Ser SP substitution exon 1 VAR_066923 Q9UBY8:p.Asn125Ser SP substitution exon 1 VAR_066924 Q9UBY8:p.His139Tyr SP substitution exon 1 VAR_066926 Q9UBY8:p.Gly221Ser SP substitution exon 1 VAR_066927 Q9UBY8:p.Pro229Ala SP substitution exon 1 VAR_066928 Q9UBY8:p.Glu269Val SP substitution exon 1 VAR_066929 O00116:p.Arg182Gln SP substitution exon 1 VAR_066930 O00116:p.Glu471Lys SP substitution exon 1 VAR_066931 O00116:p.Thr568Met SP substitution exon 1 VAR_066932 O95972:p.His200Tyr SP substitution exon 1 VAR_066933 O95972:p.Arg329Cys SP substitution exon 1 VAR_066934 O60383:p.Asp57Tyr SP substitution exon 1 VAR_066935 O60383:p.Pro103Ser SP substitution exon 1 VAR_066936 O60383:p.Thr121Ile SP substitution exon 1 VAR_066937 O60383:p.Arg146Cys SP substitution exon 1 VAR_066938 O60383:p.Thr238Ala SP substitution exon 1 VAR_066943 Q9BQL6:p.Ser400Pro SP substitution exon 1 VAR_066946 Q8N4T0:p.Gly267Arg SP substitution exon 1 VAR_066947 Q8N4T0:p.Ala270Val SP substitution exon 1 VAR_066948 P56715:p.Arg168Gly SP substitution exon 1 VAR_066949 P56715:p.Ala218Thr SP substitution exon 1 VAR_066950 P56715:p.Arg376Leu SP substitution exon 1 VAR_066951 P56715:p.Lys900Asn SP substitution exon 1 VAR_066952 P56715:p.Asp1072Gly SP substitution exon 1 VAR_066953 P56715:p.Leu1356Ser SP substitution exon 1 VAR_066954 P56715:p.Leu1417Pro SP substitution exon 1 VAR_066955 P56715:p.Leu1425Pro SP substitution exon 1 VAR_066956 P56715:p.Pro1793Ser SP substitution exon 1 VAR_066957 P56715:p.Phe1935Leu SP substitution exon 1 VAR_066958 P56715:p.Asp2066Asn SP substitution exon 1 VAR_066959 P56715:p.Thr2113Asn SP substitution exon 1 VAR_066960 Q9NPG1:p.Thr4Ser SP substitution exon 1 VAR_066961 Q9NPG1:p.Leu199Met SP substitution exon 1 VAR_066962 Q9NPG1:p.Ile545Val SP substitution exon 1 VAR_066963 O60353:p.His140Tyr SP substitution exon 1 VAR_066964 O60353:p.Gln152Glu SP substitution exon 1 VAR_066965 O60353:p.Ala388Asp SP substitution exon 1 VAR_066966 O60353:p.Arg405Gln SP substitution exon 1 VAR_066967 O60353:p.Arg511His SP substitution exon 1 VAR_066968 O60353:p.Gly604Arg SP substitution exon 1 VAR_066969 O60353:p.Ser620Thr SP substitution exon 1 VAR_066975 Q6ZNJ1:p.Ile86Val SP substitution exon 1 VAR_066976 Q6ZNJ1:p.Leu388Pro SP substitution exon 1 VAR_066977 Q6ZNJ1:p.Glu643Val SP substitution exon 1 VAR_066978 Q6ZNJ1:p.Trp677Arg SP substitution exon 1 VAR_066979 Q6ZNJ1:p.Ile682Phe SP substitution exon 1 VAR_066980 Q6ZNJ1:p.Glu1833Lys SP substitution exon 1 VAR_066981 Q6ZNJ1:p.Arg1839Cys SP substitution exon 1 VAR_066982 Q6ZNJ1:p.Pro2100Leu SP substitution exon 1 VAR_066983 Q6ZNJ1:p.His2263Tyr SP substitution exon 1 VAR_066984 Q6ZNJ1:p.Ser2269Leu SP substitution exon 1 VAR_066985 Q6ZNJ1:p.Gly2553Glu SP substitution exon 1 VAR_066986 O95180:p.Pro618Leu SP substitution exon 1 VAR_066987 O95180:p.Gly755Asp SP substitution exon 1 VAR_066988 P20794:p.Gly13Ser SP substitution exon 1 VAR_066989 P20794:p.Gly27Arg SP substitution exon 1 VAR_066990 P20794:p.Asn130His SP substitution exon 1 VAR_066991 P20794:p.Arg166His SP substitution exon 1 VAR_066992 P20794:p.Ile181Thr SP substitution exon 1 VAR_066993 P20794:p.Pro325Leu SP substitution exon 1 VAR_066994 O94915:p.Pro890Ser SP substitution exon 1 VAR_066995 Q9UPM9:p.Arg61Trp SP substitution exon 1 VAR_066996 Q9BPU9:p.Ile11Met SP substitution exon 1 VAR_066998 Q2T9K0:p.Arg232His SP substitution exon 1 VAR_066999 Q2T9K0:p.Gln284Arg SP substitution exon 1 VAR_067000 Q9UKJ3:p.Ala979Pro SP substitution exon 1 VAR_067001 Q9UKJ3:p.His1012Gln SP substitution exon 1 VAR_067002 Q9UKJ3:p.Ser1259Gly SP substitution exon 1 VAR_067003 Q6X784:p.Thr69Ile SP substitution exon 1 VAR_067004 O14802:p.Ile897Asn SP substitution exon 1 VAR_067005 Q9NW08:p.Thr503Lys SP substitution exon 1 VAR_067006 Q9NW08:p.Val523Glu SP substitution exon 1 VAR_067008 Q9NW08:p.Arg768His SP substitution exon 1 VAR_067009 Q9NW08:p.Asp926Glu SP substitution exon 1 VAR_067010 Q7Z6L0:p.Pro138Ala SP substitution exon 1 VAR_067011 Q7Z6L0:p.Asp147His SP substitution exon 1 VAR_067012 Q7Z6L0:p.Ala214Pro SP substitution exon 1 VAR_067013 Q7Z6L0:p.Gly237Arg SP substitution exon 1 VAR_067014 Q7Z6L0:p.Arg245His SP substitution exon 1 VAR_067019 Q96Q45:p.Asp155Ala SP substitution exon 1 VAR_067036 O14958:p.His244Arg SP substitution exon 1 VAR_067037 O14958:p.Asn335Lys SP substitution exon 1 VAR_067038 Q96I36:p.Met19Ile SP substitution exon 1 VAR_067039 P51116:p.Gln252His SP substitution exon 1 VAR_067041 Q15067:p.Ser184Leu SP substitution exon 1 VAR_067042 Q15067:p.Gly231Val SP substitution exon 1 VAR_067043 Q15067:p.Gln309Arg SP substitution exon 1 VAR_067044 Q15067:p.Ser310Pro SP substitution exon 1 VAR_067045 Q00872:p.Trp211Arg SP substitution exon 1 VAR_067046 Q00872:p.Tyr849His SP substitution exon 1 VAR_067051 P84022:p.Ala112Val SP substitution exon 1 VAR_067053 Q9BYV8:p.Met36Thr SP substitution exon 1 VAR_067054 Q9BYV8:p.Gln89Glu SP substitution exon 1 VAR_067055 Q9BYV8:p.Arg179His SP substitution exon 1 VAR_067056 Q9BYV8:p.Pro206Ala SP substitution exon 1 VAR_067057 Q9BYV8:p.Cys240Gly SP substitution exon 1 VAR_067058 Q9BYV8:p.Arg360Cys SP substitution exon 1 VAR_067059 Q9NPI0:p.His96Arg SP substitution exon 1 VAR_067060 Q9NPI0:p.Ala126Thr SP substitution exon 1 VAR_067061 Q9NPI0:p.Ala127Val SP substitution exon 1 VAR_067062 Q9NPI0:p.Tyr130Cys SP substitution exon 1 VAR_067063 Q8TDZ2:p.Ala12Ser SP substitution exon 1 VAR_067064 Q8TDZ2:p.Arg195His SP substitution exon 1 VAR_067065 Q8TDZ2:p.Arg453Cys SP substitution exon 1 VAR_067066 Q8TDZ2:p.Ala624Thr SP substitution exon 1 VAR_067067 Q8TDZ2:p.Ala758Lys SP substitution exon 1 VAR_067068 Q8TDZ2:p.Ala758Ser SP substitution exon 1 VAR_067069 O95967:p.Cys267Tyr SP substitution exon 1 VAR_067070 O95967:p.Arg279Cys SP substitution exon 1 VAR_067071 Q9UMX9:p.Met42Ile SP substitution exon 1 VAR_067072 Q9UMX9:p.Gly64Ser SP substitution exon 1 VAR_067073 Q9UMX9:p.Thr302Ser SP substitution exon 1 VAR_067074 Q9UMX9:p.Arg348Cys SP substitution exon 1 VAR_067075 Q86UK0:p.Thr345Pro SP substitution exon 1 VAR_067076 Q86UK0:p.Ser387Asn SP substitution exon 1 VAR_067077 Q86UK0:p.Gly1136Asp SP substitution exon 1 VAR_067078 Q86UK0:p.Gly1179Arg SP substitution exon 1 VAR_067079 Q86UK0:p.Trp1235Ser SP substitution exon 1 VAR_067080 Q86UK0:p.Ile1494Thr SP substitution exon 1 VAR_067084 P49588:p.Asn71Tyr SP substitution exon 1 VAR_067085 P04792:p.Thr164Ala SP substitution exon 1 VAR_067088 O95140:p.Leu233Val SP substitution exon 1 VAR_067089 O95140:p.Glu744Met SP substitution exon 1 VAR_067090 P48544:p.Gly151Glu SP substitution exon 1 VAR_067091 Q9UPY3:p.Glu1705Lys SP substitution exon 1 VAR_067092 Q9UPY3:p.Asp1709Glu SP substitution exon 1 VAR_067093 Q9UPY3:p.Asp1709Gly SP substitution exon 1 VAR_067094 Q9UPY3:p.Asp1709Asn SP substitution exon 1 VAR_067095 Q9UPY3:p.Asp1810His SP substitution exon 1 VAR_067096 Q9UPY3:p.Asp1810Asn SP substitution exon 1 VAR_067097 Q9UPY3:p.Asp1810Tyr SP substitution exon 1 VAR_067098 Q9UPY3:p.Glu1813Gly SP substitution exon 1 VAR_067099 Q9UPY3:p.Glu1813Lys SP substitution exon 1 VAR_067100 Q9UPY3:p.Glu1813Gln SP substitution exon 1 VAR_067101 P07949:p.Arg114Cys SP substitution exon 1 VAR_067102 P07949:p.Pro155Leu SP substitution exon 1 VAR_067103 P07949:p.Arg175Pro SP substitution exon 1 VAR_067104 P07949:p.Thr278Ala SP substitution exon 1 VAR_067105 P07949:p.Thr278Pro SP substitution exon 1 VAR_067106 P07949:p.Asp300Asn SP substitution exon 1 VAR_067107 P07949:p.Ser316Ile SP substitution exon 1 VAR_067108 P07949:p.Ser339Leu SP substitution exon 1 VAR_067109 P07949:p.Asp353Tyr SP substitution exon 1 VAR_067110 P07949:p.Arg360Gln SP substitution exon 1 VAR_067111 P07949:p.Val397Met SP substitution exon 1 VAR_067112 P07949:p.Val412Met SP substitution exon 1 VAR_067113 P07949:p.Gly423Arg SP substitution exon 1 VAR_067114 P07949:p.Glu480Lys SP substitution exon 1 VAR_067116 P07949:p.Glu595Gln SP substitution exon 1 VAR_067117 P07949:p.Pro679Leu SP substitution exon 1 VAR_067118 P07949:p.Arg694Gln SP substitution exon 1 VAR_067119 P07949:p.Asn783Ser SP substitution exon 1 VAR_067120 P07949:p.Gly830Arg SP substitution exon 1 VAR_067121 P07949:p.Lys907Thr SP substitution exon 1 VAR_067122 P07949:p.Phe961Leu SP substitution exon 1 VAR_067123 P07949:p.Leu1052Val SP substitution exon 1 VAR_067124 P07949:p.Tyr1062Cys SP substitution exon 1 VAR_067125 P82279:p.Cys45Trp SP substitution exon 1 VAR_067126 P82279:p.Cys157Ser SP substitution exon 1 VAR_067128 P82279:p.Glu222Lys SP substitution exon 1 VAR_067129 P82279:p.Cys310Tyr SP substitution exon 1 VAR_067130 P82279:p.Asn312Lys SP substitution exon 1 VAR_067131 P82279:p.Gly333Asp SP substitution exon 1 VAR_067132 P82279:p.Cys438Tyr SP substitution exon 1 VAR_067133 P82279:p.Gly454Arg SP substitution exon 1 VAR_067134 P82279:p.Phe488Ser SP substitution exon 1 VAR_067135 P82279:p.Asp491Val SP substitution exon 1 VAR_067136 P82279:p.Leu535Pro SP substitution exon 1 VAR_067137 P82279:p.Asp564Tyr SP substitution exon 1 VAR_067138 P82279:p.Ser635Pro SP substitution exon 1 VAR_067139 P82279:p.Trp675Cys SP substitution exon 1 VAR_067140 P82279:p.Glu710Val SP substitution exon 1 VAR_067141 P82279:p.Ser740Phe SP substitution exon 1 VAR_067142 P82279:p.Leu753Pro SP substitution exon 1 VAR_067144 P82279:p.Thr821Met SP substitution exon 1 VAR_067160 Q16518:p.Phe70Val SP substitution exon 1 VAR_067161 Q16518:p.Arg91Pro SP substitution exon 1 VAR_067162 Q16518:p.Val99Ile SP substitution exon 1 VAR_067163 Q16518:p.His313Arg SP substitution exon 1 VAR_067164 Q16518:p.Gly333Arg SP substitution exon 1 VAR_067165 Q9NZN9:p.Arg270His SP substitution exon 1 VAR_067166 Q9NZN9:p.Arg302Leu SP substitution exon 1 VAR_067168 Q02846:p.Trp21Arg SP substitution exon 1 VAR_067169 Q02846:p.Thr55Met SP substitution exon 1 VAR_067170 Q02846:p.Glu103Val SP substitution exon 1 VAR_067171 Q02846:p.Thr312Met SP substitution exon 1 VAR_067172 Q02846:p.Leu325Arg SP substitution exon 1 VAR_067174 Q02846:p.Arg438Cys SP substitution exon 1 VAR_067175 Q02846:p.Trp640Leu SP substitution exon 1 VAR_067176 Q02846:p.Arg660Gln SP substitution exon 1 VAR_067177 Q02846:p.Asp728His SP substitution exon 1 VAR_067178 Q02846:p.Ile734Ala SP substitution exon 1 VAR_067179 Q02846:p.Arg768Trp SP substitution exon 1 VAR_067180 Q02846:p.Met784Arg SP substitution exon 1 VAR_067181 Q02846:p.Arg795Gln SP substitution exon 1 VAR_067182 Q02846:p.Ser1007Leu SP substitution exon 1 VAR_067184 Q96KN7:p.Ser432Phe SP substitution exon 1 VAR_067185 Q96KN7:p.Ser601Trp SP substitution exon 1 VAR_067186 Q96KN7:p.His631Pro SP substitution exon 1 VAR_067189 O43186:p.Glu42Lys SP substitution exon 1 VAR_067190 O43186:p.Thr154Ala SP substitution exon 1 VAR_067191 Q9P0W8:p.Ile332Thr SP substitution exon 1 VAR_067193 Q96NR8:p.Ala79Val SP substitution exon 1 VAR_067194 Q12866:p.Phe214Val SP substitution exon 1 VAR_067196 P01130:p.Cys329Phe SP substitution exon 1 VAR_067197 Q96RQ3:p.Cys276Arg SP substitution exon 1 VAR_067198 Q96RQ3:p.Arg281Gln SP substitution exon 1 VAR_067199 Q9HCC0:p.Asp280Tyr SP substitution exon 1 VAR_067200 Q9HCC0:p.Pro459Ser SP substitution exon 1 VAR_067201 P21359:p.Ala330Thr SP substitution exon 1 VAR_067202 P21359:p.His393Asp SP substitution exon 1 VAR_067203 P21359:p.His393Leu SP substitution exon 1 VAR_067204 P21359:p.Gln519Pro SP substitution exon 1 VAR_067205 P21359:p.Ala776Thr SP substitution exon 1 VAR_067206 P21359:p.Ser1484Phe SP substitution exon 1 VAR_067207 P17661:p.Ser7Phe SP substitution exon 1 VAR_067208 P17661:p.Ser13Phe SP substitution exon 1 VAR_067209 P17661:p.Leu338Arg SP substitution exon 1 VAR_067210 P17661:p.Asp399Tyr SP substitution exon 1 VAR_067211 P17661:p.Glu401Lys SP substitution exon 1 VAR_067212 P07315:p.Gly129Cys SP substitution exon 1 VAR_067213 Q9NYQ6:p.Ala773Val SP substitution exon 1 VAR_067214 Q9NYQ6:p.Arg2312Pro SP substitution exon 1 VAR_067215 Q9NYQ6:p.Arg2438Gln SP substitution exon 1 VAR_067216 Q9NYQ6:p.Asn2739Thr SP substitution exon 1 VAR_067217 Q9NYQ6:p.Ser2964Leu SP substitution exon 1 VAR_067218 Q9NYQ6:p.Pro2983Ala SP substitution exon 1 VAR_067219 Q14160:p.Pro454Ser SP substitution exon 1 VAR_067220 Q14160:p.Arg1535Gln SP substitution exon 1 VAR_067221 Q9ULK5:p.Ser84Phe SP substitution exon 1 VAR_067222 Q9ULK5:p.Arg353Cys SP substitution exon 1 VAR_067223 Q9ULK5:p.Phe437Ser SP substitution exon 1 VAR_067224 P13497:p.Phe249Leu SP substitution exon 1 VAR_067225 O15550:p.Ile270Val SP substitution exon 1 VAR_067226 O15550:p.Glu834Asp SP substitution exon 1 VAR_067227 O15550:p.Arg922Lys SP substitution exon 1 VAR_067228 Q15910:p.Tyr641Cys SP substitution exon 1 VAR_067229 Q15910:p.Tyr641Phe SP substitution exon 1 VAR_067230 Q15910:p.Tyr641His SP substitution exon 1 VAR_067231 Q15910:p.Tyr641Asn SP substitution exon 1 VAR_067232 Q15910:p.Tyr641Ser SP substitution exon 1 VAR_067233 Q15910:p.Arg685His SP substitution exon 1 VAR_067234 Q9Y6K1:p.Gly699Asp SP substitution exon 1 VAR_067236 Q9Y6K1:p.Arg882Cys SP substitution exon 1 VAR_067237 Q9Y6K1:p.Arg882His SP substitution exon 1 VAR_067238 Q9Y6K1:p.Arg882Pro SP substitution exon 1 VAR_067240 P33897:p.Thr198Arg SP substitution exon 1 VAR_067241 P33897:p.Gly266Glu SP substitution exon 1 VAR_067242 P33897:p.Leu523Phe SP substitution exon 1 VAR_067243 P33897:p.Phe540Cys SP substitution exon 1 VAR_067244 P33897:p.Thr632Pro SP substitution exon 1 VAR_067245 P33897:p.Glu640Lys SP substitution exon 1 VAR_067246 P33897:p.Gly677Asp SP substitution exon 1 VAR_067247 Q9Y210:p.Asn125Ser SP substitution exon 1 VAR_067248 Q9Y210:p.His218Leu SP substitution exon 1 VAR_067249 Q9Y210:p.Arg895Leu SP substitution exon 1 VAR_067250 Q92838:p.Leu354Pro SP substitution exon 1 VAR_067251 P21333:p.Glu1803Lys SP substitution exon 1 VAR_067252 O60500:p.Ile742Thr SP substitution exon 1 VAR_067253 O14520:p.Arg12Cys SP substitution exon 1 VAR_067254 O14520:p.Val59Leu SP substitution exon 1 VAR_067255 O14520:p.Gly264Val SP substitution exon 1 VAR_067257 P02545:p.Leu92Phe SP substitution exon 1 VAR_067258 P02545:p.Gly523Arg SP substitution exon 1 VAR_067260 P12883:p.Val1044Ala SP substitution exon 1 VAR_067262 P12883:p.Ala1263Glu SP substitution exon 1 VAR_067263 P12883:p.Leu1297Val SP substitution exon 1 VAR_067264 P19429:p.Ala116Gly SP substitution exon 1 VAR_067265 Q9H902:p.Pro19Leu SP substitution exon 1 VAR_067266 Q9H902:p.Ser23Phe SP substitution exon 1 VAR_067267 Q9H902:p.Trp42Arg SP substitution exon 1 VAR_067268 Q9H902:p.Asp56Asn SP substitution exon 1 VAR_067269 P58304:p.Gly223Ala SP substitution exon 1 VAR_067270 P50148:p.Arg183Gln SP substitution exon 1 VAR_067271 P50148:p.Gln209Leu SP substitution exon 1 VAR_067272 Q8NBS3:p.Glu143Lys SP substitution exon 1 VAR_067273 Q8WXD2:p.Val167Ala SP substitution exon 1 VAR_067274 P15918:p.Leu454Gln SP substitution exon 1 VAR_067275 P15918:p.Arg474Cys SP substitution exon 1 VAR_067276 P15918:p.Arg699Trp SP substitution exon 1 VAR_067282 Q8NBP7:p.Gly394Ser SP substitution exon 1 VAR_067283 Q9Y5C1:p.Leu127Phe SP substitution exon 1 VAR_067284 P43246:p.Tyr165Asp SP substitution exon 1 VAR_067285 P43246:p.Glu177His SP substitution exon 1 VAR_067286 P43246:p.Pro385Leu SP substitution exon 1 VAR_067287 P43246:p.Phe519Leu SP substitution exon 1 VAR_067288 P43246:p.Gly674Arg SP substitution exon 1 VAR_067289 P43246:p.Lys675Ala SP substitution exon 1 VAR_067294 P52701:p.Ala25Ser SP substitution exon 1 VAR_067295 P52701:p.Ala326Val SP substitution exon 1 VAR_067296 P52701:p.Lys610Asn SP substitution exon 1 VAR_067297 P52701:p.Asp1026Tyr SP substitution exon 1 VAR_067300 Q8N9W5:p.Leu61Pro SP substitution exon 1 VAR_067301 Q8N9W5:p.Ala278Thr SP substitution exon 1 VAR_067302 P07225:p.Tyr234Cys SP substitution exon 1 VAR_067303 P01137:p.Cys223Gly SP substitution exon 1 VAR_067304 P01137:p.Cys223Arg SP substitution exon 1 VAR_067305 Q96NL8:p.Arg177Trp SP substitution exon 1 VAR_067306 Q96NL8:p.Gln182Arg SP substitution exon 1 VAR_067307 Q5SQQ9:p.Arg152Ser SP substitution exon 1 VAR_067308 Q9UIW0:p.Arg24Gly SP substitution exon 1 VAR_067309 P31751:p.Glu17Lys SP substitution exon 1 VAR_067310 P31751:p.Arg274His SP substitution exon 1 VAR_067311 Q99720:p.Glu102Gln SP substitution exon 1 VAR_067312 Q8NEZ3:p.Leu7Pro SP substitution exon 1 VAR_067313 Q8NEZ3:p.Val345Gly SP substitution exon 1 VAR_067314 Q8NEZ3:p.Leu710Ser SP substitution exon 1 VAR_067315 Q8WYB5:p.Glu360Lys SP substitution exon 1 VAR_067316 Q8NHL6:p.Leu459Val SP substitution exon 1 VAR_067317 Q8NHL6:p.Glu625Lys SP substitution exon 1 VAR_067318 P10746:p.Leu237Pro SP substitution exon 1 VAR_067319 Q92838:p.Ser319Arg SP substitution exon 1 VAR_067320 Q7Z6L0:p.Pro215Arg SP substitution exon 1 VAR_067321 Q7Z6L0:p.Pro216Leu SP substitution exon 1 VAR_067322 Q7Z6L0:p.Arg266Trp SP substitution exon 1 VAR_067323 Q7Z6L0:p.Trp281Arg SP substitution exon 1 VAR_067324 Q7Z6L0:p.Ala287Thr SP substitution exon 1 VAR_067325 Q7Z6L0:p.Gly305Arg SP substitution exon 1 VAR_067326 Q7Z6L0:p.Arg308Cys SP substitution exon 1 VAR_067327 Q7Z6L0:p.Ser317Asn SP substitution exon 1 VAR_067328 P33897:p.Leu516Pro SP substitution exon 1 VAR_067329 P33897:p.Arg660Gln SP substitution exon 1 VAR_067330 Q9Y4W6:p.Tyr616Cys SP substitution exon 1 VAR_067334 O95831:p.Gly308Glu SP substitution exon 1 VAR_067335 P35670:p.Leu549Pro SP substitution exon 1 VAR_067339 Q9UQK1:p.Asn249Ser SP substitution exon 1 VAR_067340 P04275:p.Cys1272Phe SP substitution exon 1 VAR_067341 Q07699:p.Arg125Leu SP substitution exon 1 VAR_067342 O00555:p.Glu388Lys SP substitution exon 1 VAR_067343 P39877:p.Gly45Cys SP substitution exon 1 VAR_067344 P39877:p.Gly49Ser SP substitution exon 1 VAR_067345 Q14807:p.Pro148Leu SP substitution exon 1 VAR_067346 Q14807:p.Pro148Ser SP substitution exon 1 VAR_067347 Q14807:p.Arg149Leu SP substitution exon 1 VAR_067348 Q14807:p.Arg149Gln SP substitution exon 1 VAR_067349 Q14807:p.Arg232Gln SP substitution exon 1 VAR_067350 Q13061:p.Thr59Arg SP substitution exon 1 VAR_067351 Q8NBP7:p.Pro174Ser SP substitution exon 1 VAR_067352 Q9BSQ5:p.Gln215His SP substitution exon 1 VAR_067353 Q9BSQ5:p.Leu229Gln SP substitution exon 1 VAR_067354 O75027:p.Glu208Asp SP substitution exon 1 VAR_067355 O60313:p.Pro400Ala SP substitution exon 1 VAR_067356 Q9NVV9:p.Ala7Asp SP substitution exon 1 VAR_067357 Q9NVV9:p.Ser21Cys SP substitution exon 1 VAR_067358 Q99814:p.Pro534Leu SP substitution exon 1 VAR_067359 Q99814:p.Met535Thr SP substitution exon 1 VAR_067360 Q99814:p.Met535Val SP substitution exon 1 VAR_067361 Q99814:p.Gly537Arg SP substitution exon 1 VAR_067362 Q99814:p.Phe540Leu SP substitution exon 1 VAR_067363 Q9UNQ0:p.Ser13Leu SP substitution exon 1 VAR_067364 Q9UNQ0:p.Arg160Gln SP substitution exon 1 VAR_067365 Q9UNQ0:p.Gly354Arg SP substitution exon 1 VAR_067366 Q9UNQ0:p.Ser441Asn SP substitution exon 1 VAR_067368 P51692:p.Phe646Ser SP substitution exon 1 VAR_067369 Q2NKJ3:p.Ala227Val SP substitution exon 1 VAR_067370 Q2NKJ3:p.Val259Met SP substitution exon 1 VAR_067371 Q2NKJ3:p.Gly503Arg SP substitution exon 1 VAR_067372 Q2NKJ3:p.Val665Gly SP substitution exon 1 VAR_067373 Q2NKJ3:p.Arg840Trp SP substitution exon 1 VAR_067374 Q2NKJ3:p.Val871Met SP substitution exon 1 VAR_067375 Q2NKJ3:p.Arg975Gly SP substitution exon 1 VAR_067377 Q2NKJ3:p.Arg987Trp SP substitution exon 1 VAR_067378 Q2NKJ3:p.Leu1142His SP substitution exon 1 VAR_067380 Q92908:p.Gly15Arg SP substitution exon 1 VAR_067381 Q92908:p.Ala178Val SP substitution exon 1 VAR_067382 Q92908:p.Ser184Asn SP substitution exon 1 VAR_067383 Q92908:p.Leu198Val SP substitution exon 1 VAR_067384 Q92908:p.Thr452Ala SP substitution exon 1 VAR_067385 Q92908:p.Arg456Cys SP substitution exon 1 VAR_067386 Q92908:p.Arg456His SP substitution exon 1 VAR_067387 Q92908:p.Asn466Asp SP substitution exon 1 VAR_067388 Q92908:p.Asn466His SP substitution exon 1 VAR_067389 Q92908:p.Ala467Thr SP substitution exon 1 VAR_067390 Q92908:p.Lys473Gln SP substitution exon 1 VAR_067391 Q9H3S4:p.Leu40Pro SP substitution exon 1 VAR_067392 Q9H3S4:p.Asn50His SP substitution exon 1 VAR_067393 Q9H3S4:p.Asn219Ser SP substitution exon 1 VAR_067394 Q9NP58:p.Ala57Thr SP substitution exon 1 VAR_067395 Q9NP58:p.Leu811Val SP substitution exon 1 VAR_067397 P07333:p.Gly589Glu SP substitution exon 1 VAR_067398 P07333:p.Glu633Lys SP substitution exon 1 VAR_067399 P07333:p.Arg710His SP substitution exon 1 VAR_067400 P07333:p.Gly747Arg SP substitution exon 1 VAR_067401 P07333:p.Met766Thr SP substitution exon 1 VAR_067402 P07333:p.Ala770Pro SP substitution exon 1 VAR_067404 P07333:p.Ile775Asn SP substitution exon 1 VAR_067405 P07333:p.Ile794Thr SP substitution exon 1 VAR_067406 P07333:p.Asp837Tyr SP substitution exon 1 VAR_067407 P07333:p.Phe849Ser SP substitution exon 1 VAR_067409 P07333:p.Leu868Pro SP substitution exon 1 VAR_067410 P07333:p.Met875Thr SP substitution exon 1 VAR_067411 P07333:p.Pro878Thr SP substitution exon 1 VAR_067412 Q13639:p.Ser27Leu SP substitution exon 1 VAR_067413 P56178:p.Gln178Pro SP substitution exon 1 VAR_067414 P15289:p.Leu52Pro SP substitution exon 1 VAR_067415 P15289:p.His138Asp SP substitution exon 1 VAR_067416 P15289:p.Thr304Met SP substitution exon 1 VAR_067417 P15289:p.Glu307Lys SP substitution exon 1 VAR_067418 P15289:p.Ser406Gly SP substitution exon 1 VAR_067423 Q15814:p.Glu86Asp SP substitution exon 1 VAR_067424 Q13009:p.Arg1007His SP substitution exon 1 VAR_067425 P21695:p.Glu124Lys SP substitution exon 1 VAR_067426 P21695:p.Thr223Ile SP substitution exon 1 VAR_067427 P78363:p.Ala762Glu SP substitution exon 1 VAR_067428 P78363:p.Trp1724Cys SP substitution exon 1 VAR_067429 P78363:p.Ile2047Asn SP substitution exon 1 VAR_067430 P78363:p.Cys2137Tyr SP substitution exon 1 VAR_067431 P49335:p.Gly237Ala SP substitution exon 1 VAR_067439 Q8NGX1:p.Arg267Pro SP substitution exon 1 VAR_067440 Q8NGP0:p.Ala2Val SP substitution exon 1 VAR_067441 Q8NGP0:p.Val133Ile SP substitution exon 1 VAR_067442 Q9P2M4:p.Leu41Val SP substitution exon 1 VAR_067443 O75911:p.Val2Ala SP substitution exon 1 VAR_067444 Q6NTF7:p.Lys140Glu SP substitution exon 1 VAR_067445 P09016:p.Ser123Pro SP substitution exon 1 VAR_067446 Q15475:p.Arg99Cys SP substitution exon 1 VAR_067447 Q5VT79:p.Ala134Val SP substitution exon 1 VAR_067448 Q5VT79:p.Asn192Lys SP substitution exon 1 VAR_067450 Q6UWL6:p.Lys591Glu SP substitution exon 1 VAR_067451 Q13200:p.Asn724Tyr SP substitution exon 1 VAR_067452 P55039:p.Thr194Met SP substitution exon 1 VAR_067453 P55039:p.Ser224Thr SP substitution exon 1 VAR_067454 P25786:p.Gly37Val SP substitution exon 1 VAR_067456 Q9UBM7:p.Ser5Leu SP substitution exon 1 VAR_067457 P06132:p.Pro77Leu SP substitution exon 1 VAR_067458 Q8WWR8:p.Gly301Arg SP substitution exon 1 VAR_067464 Q8N9V6:p.Arg349Leu SP substitution exon 1 VAR_067465 Q8N9V6:p.His431Leu SP substitution exon 1 VAR_067466 Q6UX52:p.Trp101Arg SP substitution exon 1 VAR_067469 Q96KG7:p.Arg71Trp SP substitution exon 1 VAR_067470 Q96KG7:p.Cys326Arg SP substitution exon 1 VAR_067471 Q96KG7:p.Cys774Arg SP substitution exon 1 VAR_067472 Q8TAB3:p.Leu25Pro SP substitution exon 1 VAR_067473 Q8TAB3:p.Val72Gly SP substitution exon 1 VAR_067474 Q8TAB3:p.Ala153Thr SP substitution exon 1 VAR_067475 Q8TAB3:p.Leu190Arg SP substitution exon 1 VAR_067476 Q8TAB3:p.Val191Leu SP substitution exon 1 VAR_067477 Q8TAB3:p.Asn232Ser SP substitution exon 1 VAR_067478 Q8TAB3:p.Asn234Ser SP substitution exon 1 VAR_067479 Q8TAB3:p.Pro236Ser SP substitution exon 1 VAR_067480 Q8TAB3:p.Ala262Asp SP substitution exon 1 VAR_067481 Q8TAB3:p.Pro344Arg SP substitution exon 1 VAR_067482 Q8TAB3:p.Asp377Glu SP substitution exon 1 VAR_067483 Q8TAB3:p.Leu433Pro SP substitution exon 1 VAR_067484 Q8TAB3:p.Gly513Arg SP substitution exon 1 VAR_067485 Q8TAB3:p.Val642Met SP substitution exon 1 VAR_067486 Q8TAB3:p.Arg980Cys SP substitution exon 1 VAR_067487 Q8TAB3:p.Leu1094Val SP substitution exon 1 VAR_067488 Q8TAB3:p.Arg1107His SP substitution exon 1 VAR_067489 Q8TAB3:p.Asn1134His SP substitution exon 1 VAR_067490 O60931:p.Arg151Gly SP substitution exon 1 VAR_067491 O60931:p.Gly157Asp SP substitution exon 1 VAR_067492 O60931:p.Tyr173Cys SP substitution exon 1 VAR_067493 O60931:p.Asn177Ser SP substitution exon 1 VAR_067499 Q13148:p.Gly357Arg SP substitution exon 1 VAR_067500 Q13148:p.Arg361Thr SP substitution exon 1 VAR_067501 Q9UH77:p.Ala77Glu SP substitution exon 1 VAR_067502 Q9UH77:p.Met78Val SP substitution exon 1 VAR_067503 Q9UH77:p.Glu85Ala SP substitution exon 1 VAR_067504 Q9UH77:p.Cys164Phe SP substitution exon 1 VAR_067505 Q9UH77:p.Arg228Gly SP substitution exon 1 VAR_067506 Q9UH77:p.Gln309Arg SP substitution exon 1 VAR_067507 Q9UH77:p.Phe322Cys SP substitution exon 1 VAR_067508 Q9UH77:p.Arg336Ile SP substitution exon 1 VAR_067509 Q9UH77:p.Ala340Val SP substitution exon 1 VAR_067510 Q9UH77:p.Val361Met SP substitution exon 1 VAR_067511 Q9UH77:p.Arg362Trp SP substitution exon 1 VAR_067512 Q9UH77:p.Arg384Gln SP substitution exon 1 VAR_067513 Q9UH77:p.Arg384Trp SP substitution exon 1 VAR_067514 Q9UH77:p.Leu387Pro SP substitution exon 1 VAR_067515 Q9UH77:p.Ala398Val SP substitution exon 1 VAR_067516 Q9UH77:p.Ser410Leu SP substitution exon 1 VAR_067517 Q9UH77:p.Pro426Leu SP substitution exon 1 VAR_067518 Q9UH77:p.Met427Thr SP substitution exon 1 VAR_067519 Q9UH77:p.Arg431Gln SP substitution exon 1 VAR_067520 Q9UH77:p.Ser432Asn SP substitution exon 1 VAR_067521 Q9UH77:p.Ser433Gly SP substitution exon 1 VAR_067522 Q9UH77:p.Ser433Asn SP substitution exon 1 VAR_067523 Q9UH77:p.Val438Ile SP substitution exon 1 VAR_067524 Q9UH77:p.Ala494Thr SP substitution exon 1 VAR_067525 Q9UH77:p.Gly500Val SP substitution exon 1 VAR_067526 Q9UH77:p.Pro501Thr SP substitution exon 1 VAR_067532 Q13618:p.Asp413Gly SP substitution exon 1 VAR_067533 Q13618:p.Lys459Arg SP substitution exon 1 VAR_067534 O60674:p.Val617Ile SP substitution exon 1 VAR_067535 Q9P2K1:p.Glu1447Ala SP substitution exon 1 VAR_067536 P78560:p.Gly128Arg SP substitution exon 1 VAR_067539 Q9UQD0:p.Asn1768Asp SP substitution exon 1 VAR_067540 Q8NB66:p.Asp304Glu SP substitution exon 1 VAR_067541 Q8NB66:p.Val2196Ala SP substitution exon 1 VAR_067542 Q8TAD8:p.Glu366Gly SP substitution exon 1 VAR_067543 Q99798:p.Ser112Arg SP substitution exon 1 VAR_067544 P39656:p.Gly217Asp SP substitution exon 1 VAR_067551 P08572:p.Val192Phe SP substitution exon 1 VAR_067552 P08572:p.Lys701Arg SP substitution exon 1 VAR_067553 P08572:p.Arg1109Gln SP substitution exon 1 VAR_067554 P08572:p.Glu1123Gly SP substitution exon 1 VAR_067555 P08572:p.Gln1150Lys SP substitution exon 1 VAR_067556 P08572:p.Gly1389Arg SP substitution exon 1 VAR_067557 P08572:p.Val1399Ile SP substitution exon 1 VAR_067558 P08572:p.Ala1690Thr SP substitution exon 1 VAR_067559 P40238:p.Ser505Asn SP substitution exon 1 VAR_067560 P40238:p.Trp515Lys SP substitution exon 1 VAR_067561 P40238:p.Trp515Leu SP substitution exon 1 VAR_067562 O75298:p.Ser367Phe SP substitution exon 1 VAR_067563 Q9UBP0:p.Val162Ile SP substitution exon 1 VAR_067564 Q9UBP0:p.Glu356Lys SP substitution exon 1 VAR_067565 Q9UBP0:p.Pro365Ser SP substitution exon 1 VAR_067566 Q9UBP0:p.Gly382Arg SP substitution exon 1 VAR_067567 Q9UBP0:p.Ser407Ile SP substitution exon 1 VAR_067568 Q9UBP0:p.Ser413Leu SP substitution exon 1 VAR_067569 Q9UBP0:p.Leu422Phe SP substitution exon 1 VAR_067570 Q9UBP0:p.Ser445Asn SP substitution exon 1 VAR_067571 Q9UBP0:p.Glu454Lys SP substitution exon 1 VAR_067572 Q9UBP0:p.Arg460Ser SP substitution exon 1 VAR_067573 Q9UBP0:p.Val482Leu SP substitution exon 1 VAR_067575 Q9UBP0:p.Leu534Val SP substitution exon 1 VAR_067576 Q9UBP0:p.Arg562Pro SP substitution exon 1 VAR_067577 Q8IYB7:p.Arg483Gly SP substitution exon 1 VAR_067578 Q8IYB7:p.Cys489Tyr SP substitution exon 1 VAR_067579 Q8IYB7:p.Arg576His SP substitution exon 1 VAR_067580 Q15029:p.Arg262Trp SP substitution exon 1 VAR_067581 Q15029:p.Cys476Arg SP substitution exon 1 VAR_067582 Q15029:p.Leu637Arg SP substitution exon 1 VAR_067586 P52952:p.Pro59Ala SP substitution exon 1 VAR_067587 P52952:p.Pro283Gln SP substitution exon 1 VAR_067589 Q27J81:p.Cys104Phe SP substitution exon 1 VAR_067590 Q27J81:p.Cys104Arg SP substitution exon 1 VAR_067591 Q27J81:p.Cys104Trp SP substitution exon 1 VAR_067592 Q27J81:p.Leu128Pro SP substitution exon 1 VAR_067593 Q27J81:p.Leu132Arg SP substitution exon 1 VAR_067595 Q15910:p.Pro132Ser SP substitution exon 1 VAR_067597 Q15910:p.His689Tyr SP substitution exon 1 VAR_067598 Q92959:p.Gly222Arg SP substitution exon 1 VAR_067599 Q92959:p.Gly255Glu SP substitution exon 1 VAR_067600 P32322:p.Gly248Glu SP substitution exon 1 VAR_067605 P43694:p.Ala6Val SP substitution exon 1 VAR_067606 P43694:p.Arg43Trp SP substitution exon 1 VAR_067608 P43694:p.Gly93Ala SP substitution exon 1 VAR_067610 P43694:p.Pro163Ser SP substitution exon 1 VAR_067624 Q9P2Y4:p.Pro260Thr SP substitution exon 1 VAR_067625 P52292:p.Ala157Val SP substitution exon 1 VAR_067626 P52292:p.Gly365Ser SP substitution exon 1 VAR_067627 P52292:p.Lys453Asn SP substitution exon 1 VAR_067628 Q9UBP0:p.Pro97Thr SP substitution exon 1 VAR_067629 Q9UBP0:p.Val201Asp SP substitution exon 1 VAR_067630 Q9UBP0:p.Ser229Gly SP substitution exon 1 VAR_067632 Q9UBP0:p.Pro293Leu SP substitution exon 1 VAR_067633 Q9UBP0:p.Leu314Ser SP substitution exon 1 VAR_067634 Q9UBP0:p.Ile328Leu SP substitution exon 1 VAR_067635 Q9UBP0:p.Leu360Val SP substitution exon 1 VAR_067636 Q9UBP0:p.Arg364Thr SP substitution exon 1 VAR_067637 Q9UBP0:p.Leu378Arg SP substitution exon 1 VAR_067638 Q9UBP0:p.Leu380His SP substitution exon 1 VAR_067639 Q9UBP0:p.Leu391Pro SP substitution exon 1 VAR_067641 Q9UBP0:p.Ala409Thr SP substitution exon 1 VAR_067642 Q9UBP0:p.Ser410Arg SP substitution exon 1 VAR_067643 Q9UBP0:p.Leu426Phe SP substitution exon 1 VAR_067644 Q9UBP0:p.Ser436Pro SP substitution exon 1 VAR_067645 Q9UBP0:p.Asp441Asn SP substitution exon 1 VAR_067646 Q9UBP0:p.Thr463Ala SP substitution exon 1 VAR_067647 Q9UBP0:p.Glu464Ala SP substitution exon 1 VAR_067648 Q9UBP0:p.Leu492Phe SP substitution exon 1 VAR_067649 Q9UBP0:p.Arg498Gly SP substitution exon 1 VAR_067651 Q9UBP0:p.Arg514Gly SP substitution exon 1 VAR_067652 Q9UBP0:p.Thr550Ile SP substitution exon 1 VAR_067653 Q9UBP0:p.Asn579His SP substitution exon 1 VAR_067654 Q9UBP0:p.Ile580Thr SP substitution exon 1 VAR_067655 Q8WXF7:p.Gln154Glu SP substitution exon 1 VAR_067656 Q8WXF7:p.Tyr196Cys SP substitution exon 1 VAR_067657 Q8WXF7:p.Val253Ile SP substitution exon 1 VAR_067658 Q8WXF7:p.Phe413Val SP substitution exon 1 VAR_067659 Q8WXF7:p.Asn440Thr SP substitution exon 1 VAR_067660 Q8WXF7:p.Arg495Trp SP substitution exon 1 VAR_067661 O14745:p.Glu68Ala SP substitution exon 1 VAR_067664 Q8NFD5:p.Gln82His SP substitution exon 1 VAR_067665 Q8NFD5:p.Gly246Ser SP substitution exon 1 VAR_067670 Q8NFD5:p.Ala363Val SP substitution exon 1 VAR_067671 Q8NFD5:p.Gly396Ala SP substitution exon 1 VAR_067672 Q8NFD5:p.Met429Val SP substitution exon 1 VAR_067674 Q8NFD5:p.Ser497Asn SP substitution exon 1 VAR_067675 Q8NFD5:p.Met531Thr SP substitution exon 1 VAR_067676 Q8NFD5:p.Gln876Glu SP substitution exon 1 VAR_067677 Q8NFD5:p.Gln980Leu SP substitution exon 1 VAR_067678 Q8NFD5:p.Val1092Ile SP substitution exon 1 VAR_067679 Q8NFD5:p.Gln1249Pro SP substitution exon 1 VAR_067680 Q8NFD5:p.Gly1271Glu SP substitution exon 1 VAR_067681 Q8NFD5:p.Gly1303Arg SP substitution exon 1 VAR_067682 Q8NFD5:p.Ser1321Asn SP substitution exon 1 VAR_067683 Q8NFD5:p.Pro1411Ser SP substitution exon 1 VAR_067684 Q8NFD5:p.Gln1466Lys SP substitution exon 1 VAR_067685 Q8NFD5:p.Arg1506His SP substitution exon 1 VAR_067686 Q8NFD5:p.Thr1573Met SP substitution exon 1 VAR_067687 Q8NFD5:p.Asn1659Ser SP substitution exon 1 VAR_067689 Q8NFD5:p.Lys1773Arg SP substitution exon 1 VAR_067690 Q8NFD5:p.Asp1851Asn SP substitution exon 1 VAR_067691 Q8NFD5:p.Lys1898Arg SP substitution exon 1 VAR_067692 Q8NFD5:p.Lys1954Arg SP substitution exon 1 VAR_067693 Q8NFD5:p.Gln2163Arg SP substitution exon 1 VAR_067694 Q9UK17:p.Val392Ile SP substitution exon 1 VAR_067695 Q9UK17:p.Ser530Arg SP substitution exon 1 VAR_067696 Q9UK17:p.Gly600Arg SP substitution exon 1 VAR_067697 P02545:p.Arg225Gln SP substitution exon 1 VAR_067698 P26367:p.Gly395Arg SP substitution exon 1 VAR_067699 Q9BWX5:p.Gly184Val SP substitution exon 1 VAR_067700 Q9BWX5:p.Lys218Thr SP substitution exon 1 VAR_067701 Q9BWX5:p.Ala266Pro SP substitution exon 1 VAR_067702 Q9BZJ7:p.Thr151Pro SP substitution exon 1 VAR_067703 Q9BZJ7:p.His216Arg SP substitution exon 1 VAR_067704 Q96G04:p.Val230Ile SP substitution exon 1 VAR_067705 Q96G04:p.His272Asp SP substitution exon 1 VAR_067706 Q96G04:p.Thr329Ile SP substitution exon 1 VAR_067708 P36776:p.Ala829Thr SP substitution exon 1 VAR_067709 P36776:p.Val911Ile SP substitution exon 1 VAR_067717 P09668:p.His179Tyr SP substitution exon 1 VAR_067718 Q8TDC0:p.Ser161Pro SP substitution exon 1 VAR_067719 Q9Y5R5:p.Ala381Pro SP substitution exon 1 VAR_067720 Q9Y5R5:p.Glu458Gln SP substitution exon 1 VAR_067722 Q96RR1:p.Leu456Val SP substitution exon 1 VAR_067723 Q9H2A9:p.Arg77Trp SP substitution exon 1 VAR_067724 P25092:p.Ser840Ile SP substitution exon 1 VAR_067725 Q12879:p.Pro57Leu SP substitution exon 1 VAR_067726 Q12879:p.Phe183Ile SP substitution exon 1 VAR_067727 Q12879:p.Asp252Asn SP substitution exon 1 VAR_067728 Q12879:p.Ser278Phe SP substitution exon 1 VAR_067729 Q12879:p.Glu371Lys SP substitution exon 1 VAR_067730 Q12879:p.Glu373Lys SP substitution exon 1 VAR_067731 Q12879:p.Gly449Glu SP substitution exon 1 VAR_067732 Q12879:p.Phe459Ser SP substitution exon 1 VAR_067733 Q12879:p.His595Arg SP substitution exon 1 VAR_067734 Q12879:p.Ser598Phe SP substitution exon 1 VAR_067735 Q12879:p.Met653Ile SP substitution exon 1 VAR_067736 Q12879:p.Gly712Glu SP substitution exon 1 VAR_067737 Q12879:p.Gly740Trp SP substitution exon 1 VAR_067738 Q12879:p.Gly889Glu SP substitution exon 1 VAR_067739 Q12879:p.Arg920Lys SP substitution exon 1 VAR_067740 Q12879:p.Ser929Phe SP substitution exon 1 VAR_067741 Q12879:p.Glu962Lys SP substitution exon 1 VAR_067742 Q12879:p.Glu1073Lys SP substitution exon 1 VAR_067743 Q12879:p.Pro1074Leu SP substitution exon 1 VAR_067744 Q12879:p.Asp1153Asn SP substitution exon 1 VAR_067745 Q12879:p.Glu1175Lys SP substitution exon 1 VAR_067746 Q12879:p.Ala1276Gly SP substitution exon 1 VAR_067747 Q12879:p.Arg1285Lys SP substitution exon 1 VAR_067748 Q12879:p.Arg1318Trp SP substitution exon 1 VAR_067749 Q12879:p.Pro1366Leu SP substitution exon 1 VAR_067750 Q12879:p.Asp1421Asn SP substitution exon 1 VAR_067751 Q12879:p.Ser1425Leu SP substitution exon 1 VAR_067752 Q12879:p.Glu1426Lys SP substitution exon 1 VAR_067753 Q12879:p.Ser1462Cys SP substitution exon 1 VAR_067754 Q9Y4A5:p.Ser722Phe SP substitution exon 1 VAR_067755 Q99575:p.Gly583Glu SP substitution exon 1 VAR_067756 Q92542:p.Pro211Arg SP substitution exon 1 VAR_067757 Q16518:p.Asp477Gly SP substitution exon 1 VAR_067758 P00439:p.His290Tyr SP substitution exon 1 VAR_067759 P00439:p.Ala322Val SP substitution exon 1 VAR_067760 P00439:p.Ile421Ser SP substitution exon 1 VAR_067761 P43246:p.Gly669Arg SP substitution exon 1 VAR_067762 Q15049:p.Ser69Leu SP substitution exon 1 VAR_067763 Q15049:p.Met80Ile SP substitution exon 1 VAR_067764 Q15049:p.Arg84Cys SP substitution exon 1 VAR_067765 Q15049:p.Cys125Arg SP substitution exon 1 VAR_067766 Q15049:p.Ala245Pro SP substitution exon 1 VAR_067767 Q15049:p.Ser246Arg SP substitution exon 1 VAR_067768 Q15049:p.Thr320Lys SP substitution exon 1 VAR_067769 Q2WEN9:p.Thr140Pro SP substitution exon 1 VAR_067770 Q76LX8:p.Ile79Met SP substitution exon 1 VAR_067771 Q76LX8:p.Ser119Phe SP substitution exon 1 VAR_067772 Q76LX8:p.Ile178Thr SP substitution exon 1 VAR_067773 Q76LX8:p.Ser203Pro SP substitution exon 1 VAR_067774 Q76LX8:p.Leu232Gln SP substitution exon 1 VAR_067775 Q76LX8:p.Asp235His SP substitution exon 1 VAR_067776 Q76LX8:p.Ser263Cys SP substitution exon 1 VAR_067777 Q76LX8:p.Tyr304Cys SP substitution exon 1 VAR_067778 Q76LX8:p.Cys311Tyr SP substitution exon 1 VAR_067779 Q76LX8:p.Thr339Arg SP substitution exon 1 VAR_067780 Q76LX8:p.Cys347Ser SP substitution exon 1 VAR_067781 Q76LX8:p.Arg349Cys SP substitution exon 1 VAR_067782 Q76LX8:p.Pro353Leu SP substitution exon 1 VAR_067783 Q76LX8:p.Arg507Gln SP substitution exon 1 VAR_067784 Q76LX8:p.Gly525Asp SP substitution exon 1 VAR_067785 Q76LX8:p.Ala596Val SP substitution exon 1 VAR_067786 Q76LX8:p.Ala606Pro SP substitution exon 1 VAR_067787 Q76LX8:p.Tyr658Cys SP substitution exon 1 VAR_067788 Q76LX8:p.Pro671Leu SP substitution exon 1 VAR_067789 Q76LX8:p.Cys758Arg SP substitution exon 1 VAR_067790 Q76LX8:p.Cys908Ser SP substitution exon 1 VAR_067792 Q76LX8:p.Arg1060Trp SP substitution exon 1 VAR_067795 Q9Y5Q5:p.Lys317Glu SP substitution exon 1 VAR_067796 Q9Y5Q5:p.Asp444Gly SP substitution exon 1 VAR_067797 Q9Y5Q5:p.Ser472Gly SP substitution exon 1 VAR_067798 Q2YD98:p.Cys32Arg SP substitution exon 1 VAR_067799 Q5NUL3:p.Arg67Cys SP substitution exon 1 VAR_067800 Q5NUL3:p.Arg270His SP substitution exon 1 VAR_067801 Q9BZD2:p.Met116Arg SP substitution exon 1 VAR_067802 Q9BZD2:p.Arg134Cys SP substitution exon 1 VAR_067803 Q9BZD2:p.Gly163Val SP substitution exon 1 VAR_067804 Q9BZD2:p.Ser184Arg SP substitution exon 1 VAR_067810 P60709:p.Asn12Asp SP substitution exon 1 VAR_067811 P60709:p.Leu65Val SP substitution exon 1 VAR_067812 P60709:p.Arg196Cys SP substitution exon 1 VAR_067813 P60709:p.Arg196His SP substitution exon 1 VAR_067814 P63261:p.Thr120Ile SP substitution exon 1 VAR_067815 P63261:p.Ala135Val SP substitution exon 1 VAR_067816 P63261:p.Ser155Phe SP substitution exon 1 VAR_067817 P63261:p.Thr203Lys SP substitution exon 1 VAR_067818 P63261:p.Arg254Trp SP substitution exon 1 VAR_067819 P63261:p.Arg256Trp SP substitution exon 1 VAR_067820 Q14204:p.Ile584Leu SP substitution exon 1 VAR_067821 Q14204:p.Lys671Glu SP substitution exon 1 VAR_067822 Q14204:p.Tyr970Cys SP substitution exon 1 VAR_067823 Q14204:p.Glu1518Lys SP substitution exon 1 VAR_067824 P63261:p.Lys118Asn SP substitution exon 1 VAR_067825 P63261:p.Ile122Val SP substitution exon 1 VAR_067826 P63261:p.Glu241Lys SP substitution exon 1 VAR_067827 Q6PJF5:p.Ile186Thr SP substitution exon 1 VAR_067828 Q6PJF5:p.Pro189Leu SP substitution exon 1 VAR_067829 P52732:p.Phe144Leu SP substitution exon 1 VAR_067830 P52732:p.Arg234Cys SP substitution exon 1 VAR_067831 P52732:p.Ser235Cys SP substitution exon 1 VAR_067832 P52732:p.Arg944Cys SP substitution exon 1 VAR_067833 O75190:p.Phe89Ile SP substitution exon 1 VAR_067834 O75190:p.Phe93Leu SP substitution exon 1 VAR_067835 O75190:p.Pro96Arg SP substitution exon 1 VAR_067836 P08572:p.Pro718Ser SP substitution exon 1 VAR_067837 P08572:p.Gly1037Glu SP substitution exon 1 VAR_067838 P08572:p.Gly1152Asp SP substitution exon 1 VAR_067839 O43766:p.Arg249His SP substitution exon 1 VAR_067841 O95255:p.Ala78Thr SP substitution exon 1 VAR_067842 O95255:p.Glu125Lys SP substitution exon 1 VAR_067843 O95255:p.Gly129Glu SP substitution exon 1 VAR_067844 O95255:p.Ala158Val SP substitution exon 1 VAR_067845 O95255:p.Ser317Arg SP substitution exon 1 VAR_067846 O95255:p.Leu355Arg SP substitution exon 1 VAR_067848 O95255:p.Asn370Asp SP substitution exon 1 VAR_067849 O95255:p.Arg382Trp SP substitution exon 1 VAR_067850 O95255:p.Arg391Gly SP substitution exon 1 VAR_067851 O95255:p.Lys392Asn SP substitution exon 1 VAR_067852 O95255:p.Ser398Gly SP substitution exon 1 VAR_067853 O95255:p.Val417Met SP substitution exon 1 VAR_067854 O95255:p.Cys440Gly SP substitution exon 1 VAR_067855 O95255:p.Leu463His SP substitution exon 1 VAR_067856 O95255:p.Leu495His SP substitution exon 1 VAR_067857 O95255:p.Val514Ile SP substitution exon 1 VAR_067858 O95255:p.Ser535Pro SP substitution exon 1 VAR_067859 O95255:p.Phe551Ser SP substitution exon 1 VAR_067860 O95255:p.Ser590Phe SP substitution exon 1 VAR_067861 O95255:p.Ala594Val SP substitution exon 1 VAR_067862 O95255:p.Arg600Cys SP substitution exon 1 VAR_067863 O95255:p.Gly663Cys SP substitution exon 1 VAR_067864 O95255:p.Leu677Pro SP substitution exon 1 VAR_067865 O95255:p.Gln698Pro SP substitution exon 1 VAR_067866 O95255:p.Glu699Asp SP substitution exon 1 VAR_067867 O95255:p.Arg724Lys SP substitution exon 1 VAR_067868 O95255:p.Arg724Leu SP substitution exon 1 VAR_067869 O95255:p.Leu726Pro SP substitution exon 1 VAR_067870 O95255:p.Ile742Val SP substitution exon 1 VAR_067871 O95255:p.Met751Lys SP substitution exon 1 VAR_067872 O95255:p.Gly755Arg SP substitution exon 1 VAR_067873 O95255:p.Arg760Trp SP substitution exon 1 VAR_067874 O95255:p.Ala766Asp SP substitution exon 1 VAR_067875 O95255:p.Asp777Asn SP substitution exon 1 VAR_067876 O95255:p.Arg807Gln SP substitution exon 1 VAR_067877 O95255:p.Arg807Trp SP substitution exon 1 VAR_067878 O95255:p.Val810Met SP substitution exon 1 VAR_067879 O95255:p.Thr811Met SP substitution exon 1 VAR_067880 O95255:p.Ala820Pro SP substitution exon 1 VAR_067881 O95255:p.Arg881Ser SP substitution exon 1 VAR_067882 O95255:p.Thr944Ile SP substitution exon 1 VAR_067883 O95255:p.Leu946Ile SP substitution exon 1 VAR_067884 O95255:p.Ala950Thr SP substitution exon 1 VAR_067885 O95255:p.Gly992Arg SP substitution exon 1 VAR_067888 O95255:p.Asp1056Glu SP substitution exon 1 VAR_067889 O95255:p.Arg1064Trp SP substitution exon 1 VAR_067890 O95255:p.Arg1114Cys SP substitution exon 1 VAR_067891 O95255:p.Ser1121Leu SP substitution exon 1 VAR_067892 O95255:p.Thr1130Met SP substitution exon 1 VAR_067893 O95255:p.Gly1133Ala SP substitution exon 1 VAR_067894 O95255:p.Ala1139Thr SP substitution exon 1 VAR_067895 O95255:p.Arg1164Gln SP substitution exon 1 VAR_067896 O95255:p.Arg1221Cys SP substitution exon 1 VAR_067897 O95255:p.Arg1221His SP substitution exon 1 VAR_067898 O95255:p.Leu1226Ile SP substitution exon 1 VAR_067899 O95255:p.Arg1235Trp SP substitution exon 1 VAR_067900 O95255:p.Asp1238His SP substitution exon 1 VAR_067901 O95255:p.Leu1335Pro SP substitution exon 1 VAR_067902 O95255:p.Leu1335Gln SP substitution exon 1 VAR_067903 O95255:p.Arg1339Leu SP substitution exon 1 VAR_067904 O95255:p.Arg1339His SP substitution exon 1 VAR_067905 O95255:p.Pro1346Ser SP substitution exon 1 VAR_067906 O95255:p.Arg1357Trp SP substitution exon 1 VAR_067907 O95255:p.Glu1400Lys SP substitution exon 1 VAR_067908 O95255:p.Gln1406Lys SP substitution exon 1 VAR_067909 O95255:p.Arg1459Cys SP substitution exon 1 VAR_067910 P22413:p.Pro250Leu SP substitution exon 1 VAR_067912 P22413:p.Pro305Thr SP substitution exon 1 VAR_067913 P22413:p.Asp538His SP substitution exon 1 VAR_067914 P22413:p.Gly586Arg SP substitution exon 1 VAR_067915 O00400:p.Ala110Pro SP substitution exon 1 VAR_067916 Q5H8C1:p.Arg498Gln SP substitution exon 1 VAR_067917 Q5H8C1:p.Glu1500Val SP substitution exon 1 VAR_067919 Q13535:p.Gln2144Arg SP substitution exon 1 VAR_067920 Q8NET8:p.Gly573Cys SP substitution exon 1 VAR_067921 Q8NET8:p.Gly573Ser SP substitution exon 1 VAR_067922 Q8NET8:p.Trp692Gly SP substitution exon 1 VAR_067923 Q9NR63:p.Ser146Pro SP substitution exon 1 VAR_067924 Q9NR63:p.Arg363Leu SP substitution exon 1 VAR_067925 Q6PRD1:p.Asp126His SP substitution exon 1 VAR_067926 Q6PRD1:p.Tyr220Cys SP substitution exon 1 VAR_067927 Q6PRD1:p.Gly455Asp SP substitution exon 1 VAR_067928 Q6PRD1:p.His603Tyr SP substitution exon 1 VAR_067929 P03951:p.Gly32Arg SP substitution exon 1 VAR_067930 P03951:p.Ala43Thr SP substitution exon 1 VAR_067931 P03951:p.Thr51Ile SP substitution exon 1 VAR_067932 P03951:p.Thr51Pro SP substitution exon 1 VAR_067933 P03951:p.His53Gln SP substitution exon 1 VAR_067934 P03951:p.Ala63Val SP substitution exon 1 VAR_067935 P03951:p.Cys140Tyr SP substitution exon 1 VAR_067936 P03951:p.Asp222Tyr SP substitution exon 1 VAR_067937 P03951:p.Arg228Gln SP substitution exon 1 VAR_067938 P03951:p.Phe241Leu SP substitution exon 1 VAR_067939 P03951:p.Arg252Thr SP substitution exon 1 VAR_067940 P03951:p.Ser276Cys SP substitution exon 1 VAR_067941 P03951:p.Gly277Asp SP substitution exon 1 VAR_067942 P03951:p.Glu315Lys SP substitution exon 1 VAR_067943 P03951:p.Thr331Ile SP substitution exon 1 VAR_067944 P03951:p.Leu360Pro SP substitution exon 1 VAR_067945 P03951:p.Trp401Arg SP substitution exon 1 VAR_067946 P03951:p.Val403Met SP substitution exon 1 VAR_067947 P03951:p.Ile454Lys SP substitution exon 1 VAR_067948 P03951:p.Ile481Ser SP substitution exon 1 VAR_067949 P03951:p.Ser503Pro SP substitution exon 1 VAR_067950 P03951:p.Asp506Gly SP substitution exon 1 VAR_067951 P03951:p.Cys514Phe SP substitution exon 1 VAR_067952 P03951:p.Asp526Glu SP substitution exon 1 VAR_067953 P03951:p.Ser575Leu SP substitution exon 1 VAR_067954 P03951:p.Glu597Lys SP substitution exon 1 VAR_067955 P03951:p.Tyr608His SP substitution exon 1 VAR_067956 Q5TEU4:p.Leu159Phe SP substitution exon 1 VAR_067957 Q6PGP7:p.Gly251Arg SP substitution exon 1 VAR_067958 Q6PGP7:p.Asp1283Asn SP substitution exon 1 VAR_067959 Q6PGP7:p.Leu1505Ser SP substitution exon 1 VAR_067960 Q96NT5:p.Asp156Tyr SP substitution exon 1 VAR_067961 Q96NT5:p.Ala335Asp SP substitution exon 1 VAR_067962 Q96NT5:p.Gly338Arg SP substitution exon 1 VAR_067963 Q96NT5:p.Arg376Gln SP substitution exon 1 VAR_067964 O95292:p.Thr46Ile SP substitution exon 1 VAR_067965 Q15025:p.Arg263Trp SP substitution exon 1 VAR_067966 Q15025:p.Thr286Met SP substitution exon 1 VAR_067967 Q15025:p.Ile374Thr SP substitution exon 1 VAR_067968 Q15025:p.Glu476Lys SP substitution exon 1 VAR_067969 Q8NFZ5:p.Gln249His SP substitution exon 1 VAR_067970 Q8NFZ5:p.Glu255Lys SP substitution exon 1 VAR_067971 Q9ULV3:p.Pro47Ser SP substitution exon 1 VAR_067972 Q9ULV3:p.Pro50Leu SP substitution exon 1 VAR_067973 Q9ULV3:p.Ser264Gly SP substitution exon 1 VAR_067974 Q9ULV3:p.Gln394Glu SP substitution exon 1 VAR_067977 P21802:p.Tyr381Asp SP substitution exon 1 VAR_067978 P21802:p.Met391Arg SP substitution exon 1 VAR_067979 Q9Y5Q3:p.Ser54Leu SP substitution exon 1 VAR_067980 Q9Y5Q3:p.Pro59Leu SP substitution exon 1 VAR_067981 Q9Y5Q3:p.Thr62Pro SP substitution exon 1 VAR_067982 Q9Y5Q3:p.Pro63Arg SP substitution exon 1 VAR_067983 Q9Y5Q3:p.Ser66Cys SP substitution exon 1 VAR_067984 Q9Y5Q3:p.Ser69Leu SP substitution exon 1 VAR_067985 Q9Y5Q3:p.Ser70Ala SP substitution exon 1 VAR_067986 Q9Y5Q3:p.Ser70Leu SP substitution exon 1 VAR_067987 Q9Y5Q3:p.Pro71Leu SP substitution exon 1 VAR_067988 Q9Y5Q3:p.Pro71Ser SP substitution exon 1 VAR_067989 Q9HBA0:p.Pro97Arg SP substitution exon 1 VAR_067990 Q9HBA0:p.Arg232Cys SP substitution exon 1 VAR_067991 Q9HBA0:p.Arg316His SP substitution exon 1 VAR_067993 Q9HBA0:p.Ser542Tyr SP substitution exon 1 VAR_067994 P00439:p.Val45Ala SP substitution exon 1 VAR_067995 P00439:p.Asn61Asp SP substitution exon 1 VAR_067996 P00439:p.Leu62Pro SP substitution exon 1 VAR_067997 P00439:p.Ile65Ser SP substitution exon 1 VAR_067998 P00439:p.Ile65Val SP substitution exon 1 VAR_067999 P00439:p.Glu76Gly SP substitution exon 1 VAR_068000 P00439:p.Arg157Ser SP substitution exon 1 VAR_068001 P00439:p.His170Gln SP substitution exon 1 VAR_068002 P00439:p.Val177Met SP substitution exon 1 VAR_068003 P00439:p.Gln226His SP substitution exon 1 VAR_068004 P00439:p.Pro275Leu SP substitution exon 1 VAR_068005 P00439:p.Ser310Tyr SP substitution exon 1 VAR_068006 P00439:p.Pro314Ser SP substitution exon 1 VAR_068007 P00439:p.Pro407Leu SP substitution exon 1 VAR_068008 P00439:p.Tyr417His SP substitution exon 1 VAR_068009 A1L443:p.Ser137Cys SP substitution exon 1 VAR_068010 A1L443:p.Arg176Gly SP substitution exon 1 VAR_068011 Q99572:p.Ile568Asn SP substitution exon 1 VAR_068014 O43502:p.Ile52Leu SP substitution exon 1 VAR_068016 O43502:p.Gly114Val SP substitution exon 1 VAR_068017 O43502:p.Gly162Glu SP substitution exon 1 VAR_068018 O43502:p.Ala175Thr SP substitution exon 1 VAR_068019 O43502:p.Gln178Pro SP substitution exon 1 VAR_068020 O43502:p.Leu262Val SP substitution exon 1 VAR_068024 P98161:p.Tyr325Cys SP substitution exon 1 VAR_068025 P98161:p.Arg611Trp SP substitution exon 1 VAR_068026 P98161:p.Tyr698Asp SP substitution exon 1 VAR_068027 P98161:p.Val1206Gly SP substitution exon 1 VAR_068028 P98161:p.Arg2767Cys SP substitution exon 1 VAR_068029 P98161:p.Leu2995Arg SP substitution exon 1 VAR_068030 P98161:p.Gly3651Ser SP substitution exon 1 VAR_068031 P98161:p.Arg4150Cys SP substitution exon 1 VAR_068032 Q8WXG9:p.Arg4789Trp SP substitution exon 1 VAR_068033 Q8WXG9:p.His5978Arg SP substitution exon 1 VAR_068034 O00754:p.Cys55Phe SP substitution exon 1 VAR_068035 O00754:p.Asp74Glu SP substitution exon 1 VAR_068036 O00754:p.Ala95Pro SP substitution exon 1 VAR_068037 O00754:p.Tyr99His SP substitution exon 1 VAR_068038 O00754:p.Asp159Asn SP substitution exon 1 VAR_068039 O00754:p.Pro197Arg SP substitution exon 1 VAR_068040 O00754:p.His200Asn SP substitution exon 1 VAR_068041 O00754:p.Arg202Pro SP substitution exon 1 VAR_068042 O00754:p.Arg229Trp SP substitution exon 1 VAR_068043 O00754:p.Pro248Leu SP substitution exon 1 VAR_068044 O00754:p.Pro263Leu SP substitution exon 1 VAR_068045 O00754:p.Pro282Ser SP substitution exon 1 VAR_068046 O00754:p.Ser318Leu SP substitution exon 1 VAR_068048 O00754:p.Leu352Pro SP substitution exon 1 VAR_068049 O00754:p.Pro379Leu SP substitution exon 1 VAR_068050 O00754:p.Gly390Cys SP substitution exon 1 VAR_068051 O00754:p.Gly420Val SP substitution exon 1 VAR_068052 O00754:p.His445Tyr SP substitution exon 1 VAR_068053 O00754:p.Gly451Cys SP substitution exon 1 VAR_068054 O00754:p.Ser453Phe SP substitution exon 1 VAR_068055 O00754:p.Val457Glu SP substitution exon 1 VAR_068056 O00754:p.Cys501Ser SP substitution exon 1 VAR_068057 O00754:p.Leu565Pro SP substitution exon 1 VAR_068058 O00754:p.Pro669Leu SP substitution exon 1 VAR_068059 O00754:p.Thr745Arg SP substitution exon 1 VAR_068060 O00754:p.Gly800Arg SP substitution exon 1 VAR_068061 O00754:p.Gly800Trp SP substitution exon 1 VAR_068063 O00754:p.Gly891Arg SP substitution exon 1 VAR_068064 O00754:p.Leu892Pro SP substitution exon 1 VAR_068065 O00754:p.Arg916Cys SP substitution exon 1 VAR_068066 O00754:p.Arg916His SP substitution exon 1 VAR_068067 O00754:p.Arg950Pro SP substitution exon 1 VAR_068068 O00754:p.Leu956Arg SP substitution exon 1 VAR_068069 O00754:p.Phe1000Ser SP substitution exon 1 VAR_068070 Q2TAA5:p.Tyr279Ser SP substitution exon 1 VAR_068071 Q2TAA5:p.Gln318Pro SP substitution exon 1 VAR_068072 Q2TAA5:p.Leu381Ser SP substitution exon 1 VAR_068073 Q2TAA5:p.Glu398Lys SP substitution exon 1 VAR_068074 O43541:p.Ala325Thr SP substitution exon 1 VAR_068075 O43541:p.Pro415Leu SP substitution exon 1 VAR_068076 O43541:p.Cys484Phe SP substitution exon 1 VAR_068077 P16220:p.Asp116Gly SP substitution exon 1 VAR_068078 O14618:p.Arg163Trp SP substitution exon 1 VAR_068079 Q02962:p.Gly24Glu SP substitution exon 1 VAR_068080 Q02962:p.Gly25Val SP substitution exon 1 VAR_068081 Q02962:p.Leu33Arg SP substitution exon 1 VAR_068082 Q02962:p.Ser61Ile SP substitution exon 1 VAR_068083 Q02962:p.Ser61Asn SP substitution exon 1 VAR_068085 Q02962:p.Leu69Pro SP substitution exon 1 VAR_068086 Q02962:p.Arg71Thr SP substitution exon 1 VAR_068089 Q02962:p.Gly84Ser SP substitution exon 1 VAR_068090 Q02962:p.Arg117Pro SP substitution exon 1 VAR_068091 Q02962:p.Pro130His SP substitution exon 1 VAR_068092 Q02962:p.Pro130Ser SP substitution exon 1 VAR_068093 Q02962:p.Ala160Thr SP substitution exon 1 VAR_068094 Q02962:p.Thr164Asn SP substitution exon 1 VAR_068095 Q02962:p.Ser175Thr SP substitution exon 1 VAR_068096 Q02962:p.Ser387Asn SP substitution exon 1 VAR_068097 Q8IYM1:p.Thr89Met SP substitution exon 1 VAR_068098 Q8IYM1:p.Asp197Asn SP substitution exon 1 VAR_068099 Q9Y5U8:p.Leu79His SP substitution exon 1 VAR_068100 Q9Y5U8:p.Arg97Trp SP substitution exon 1 VAR_068101 A4D126:p.Ala122Pro SP substitution exon 1 VAR_068102 A4D126:p.Arg126His SP substitution exon 1 VAR_068103 A4D126:p.Ala216Asp SP substitution exon 1 VAR_068104 Q9P2D1:p.Met41Ile SP substitution exon 1 VAR_068105 Q9P2D1:p.Pro86Arg SP substitution exon 1 VAR_068106 Q9P2D1:p.Ser103Thr SP substitution exon 1 VAR_068107 Q9P2D1:p.Gln201Arg SP substitution exon 1 VAR_068108 Q9P2D1:p.Val238Met SP substitution exon 1 VAR_068109 Q9P2D1:p.Pro369Ala SP substitution exon 1 VAR_068110 Q9P2D1:p.Ser466Leu SP substitution exon 1 VAR_068111 Q9P2D1:p.Gly522Val SP substitution exon 1 VAR_068112 Q9P2D1:p.Pro558Ala SP substitution exon 1 VAR_068113 Q9P2D1:p.Gly636Val SP substitution exon 1 VAR_068114 Q9P2D1:p.Ser699Thr SP substitution exon 1 VAR_068115 Q9P2D1:p.Asp728Asn SP substitution exon 1 VAR_068116 Q9P2D1:p.Gly744Ser SP substitution exon 1 VAR_068117 Q9P2D1:p.Glu871Asp SP substitution exon 1 VAR_068118 Q9P2D1:p.Thr894Ala SP substitution exon 1 VAR_068119 Q9P2D1:p.Lys907Thr SP substitution exon 1 VAR_068120 Q9P2D1:p.Thr917Met SP substitution exon 1 VAR_068121 Q9P2D1:p.Arg938Lys SP substitution exon 1 VAR_068122 Q9P2D1:p.Arg944His SP substitution exon 1 VAR_068123 Q9P2D1:p.Arg947Gln SP substitution exon 1 VAR_068124 Q9P2D1:p.Leu1020Ser SP substitution exon 1 VAR_068125 Q9P2D1:p.Glu1203Gln SP substitution exon 1 VAR_068126 Q9P2D1:p.Val1208Asp SP substitution exon 1 VAR_068127 Q9P2D1:p.Leu1322Pro SP substitution exon 1 VAR_068128 Q9P2D1:p.Arg1345Cys SP substitution exon 1 VAR_068129 Q9P2D1:p.Gln1395His SP substitution exon 1 VAR_068130 Q9P2D1:p.Thr1416Arg SP substitution exon 1 VAR_068131 Q9P2D1:p.Lys1457Gln SP substitution exon 1 VAR_068132 Q9P2D1:p.Phe1576Cys SP substitution exon 1 VAR_068133 Q9P2D1:p.Gly1617Ser SP substitution exon 1 VAR_068134 Q9P2D1:p.Gly1684Ser SP substitution exon 1 VAR_068135 Q9P2D1:p.Leu1739Arg SP substitution exon 1 VAR_068136 Q9P2D1:p.Asp1791Glu SP substitution exon 1 VAR_068137 Q9P2D1:p.Gly1802Asp SP substitution exon 1 VAR_068138 Q9P2D1:p.Asp1866Gly SP substitution exon 1 VAR_068139 Q9P2D1:p.Ala1950Thr SP substitution exon 1 VAR_068140 Q9P2D1:p.Arg2065His SP substitution exon 1 VAR_068141 Q9P2D1:p.Arg2065Ser SP substitution exon 1 VAR_068142 Q9P2D1:p.Ser2084Gly SP substitution exon 1 VAR_068143 Q9P2D1:p.Gly2103Asp SP substitution exon 1 VAR_068144 Q9P2D1:p.Gly2108Arg SP substitution exon 1 VAR_068145 Q9P2D1:p.Ile2116Asn SP substitution exon 1 VAR_068146 Q9P2D1:p.Ala2160Thr SP substitution exon 1 VAR_068147 Q9P2D1:p.Ala2225Thr SP substitution exon 1 VAR_068148 Q9P2D1:p.Arg2319Cys SP substitution exon 1 VAR_068149 Q9P2D1:p.Gly2330Ala SP substitution exon 1 VAR_068150 Q9P2D1:p.Arg2418Gly SP substitution exon 1 VAR_068151 Q9P2D1:p.Arg2495Ser SP substitution exon 1 VAR_068152 Q9P2D1:p.Met2527Leu SP substitution exon 1 VAR_068153 Q9P2D1:p.Arg2653Gln SP substitution exon 1 VAR_068154 Q9P2D1:p.Pro2683Ser SP substitution exon 1 VAR_068155 Q9P2D1:p.Arg2702Cys SP substitution exon 1 VAR_068156 Q9P2D1:p.Ala2733Thr SP substitution exon 1 VAR_068157 Q9P2D1:p.Leu2806Val SP substitution exon 1 VAR_068158 Q9P2D1:p.Ser2857Ala SP substitution exon 1 VAR_068159 Q9P2D1:p.Val2931Met SP substitution exon 1 VAR_068160 Q9P2D1:p.Leu2984Phe SP substitution exon 1 VAR_068161 Q96H96:p.Ser96Asn SP substitution exon 1 VAR_068162 Q96H96:p.Arg147His SP substitution exon 1 VAR_068163 Q96H96:p.Asn178Ser SP substitution exon 1 VAR_068164 Q6NXT2:p.His39Arg SP substitution exon 1 VAR_068165 Q9H799:p.Arg1336Trp SP substitution exon 1 VAR_068168 O15078:p.Glu534Lys SP substitution exon 1 VAR_068169 Q9P2K1:p.Glu1126Lys SP substitution exon 1 VAR_068172 Q7Z4L5:p.Met1011Thr SP substitution exon 1 VAR_068173 Q9P2H0:p.Gly668Ser SP substitution exon 1 VAR_068174 P25092:p.Asp387Gly SP substitution exon 1 VAR_068175 Q9BU40:p.Cys254Phe SP substitution exon 1 VAR_068176 P17643:p.Arg93Cys SP substitution exon 1 VAR_068180 P51531:p.Gly752Ala SP substitution exon 1 VAR_068181 P51531:p.Lys755Arg SP substitution exon 1 VAR_068182 P51531:p.Thr756Ile SP substitution exon 1 VAR_068183 P51531:p.Asp851His SP substitution exon 1 VAR_068184 P51531:p.Glu852Asp SP substitution exon 1 VAR_068185 P51531:p.Glu852Lys SP substitution exon 1 VAR_068186 P51531:p.His854Asn SP substitution exon 1 VAR_068187 P51531:p.His854Arg SP substitution exon 1 VAR_068188 P51531:p.Arg855Gly SP substitution exon 1 VAR_068189 P51531:p.Gly881Arg SP substitution exon 1 VAR_068190 P51531:p.Gly881Val SP substitution exon 1 VAR_068191 P51531:p.Pro883Leu SP substitution exon 1 VAR_068192 P51531:p.His939Tyr SP substitution exon 1 VAR_068193 P51531:p.Leu946Phe SP substitution exon 1 VAR_068194 P51531:p.Leu946Ser SP substitution exon 1 VAR_068195 P51531:p.Arg1105Cys SP substitution exon 1 VAR_068196 P51531:p.Arg1105Pro SP substitution exon 1 VAR_068197 P51531:p.Leu1135Pro SP substitution exon 1 VAR_068198 P51531:p.Ser1146Arg SP substitution exon 1 VAR_068199 P51531:p.Asp1158Val SP substitution exon 1 VAR_068200 P51531:p.Arg1159Gly SP substitution exon 1 VAR_068201 P51531:p.Arg1159Leu SP substitution exon 1 VAR_068202 P51531:p.Arg1159Gln SP substitution exon 1 VAR_068203 P51531:p.Arg1162His SP substitution exon 1 VAR_068204 P51531:p.Ala1188Pro SP substitution exon 1 VAR_068205 P51531:p.Ala1201Val SP substitution exon 1 VAR_068206 P51531:p.Gly1202Cys SP substitution exon 1 VAR_068207 P51531:p.Asp1205Gly SP substitution exon 1 VAR_068208 P51531:p.Arg1213Trp SP substitution exon 1 VAR_068210 P51532:p.Thr859Met SP substitution exon 1 VAR_068211 P51532:p.Arg885Cys SP substitution exon 1 VAR_068212 P51532:p.Leu921Phe SP substitution exon 1 VAR_068213 P51532:p.Met1011Thr SP substitution exon 1 VAR_068214 P51532:p.Arg1157Gly SP substitution exon 1 VAR_068215 Q969G3:p.Tyr73Cys SP substitution exon 1 VAR_068216 Q9Y2Z9:p.Gly255Arg SP substitution exon 1 VAR_068217 Q9Y2Z9:p.Glu287Lys SP substitution exon 1 VAR_068218 Q9Y2Z9:p.Ala353Asp SP substitution exon 1 VAR_068219 Q96K19:p.Arg199Cys SP substitution exon 1 VAR_068221 Q9Y2B2:p.Leu167Pro SP substitution exon 1 VAR_068222 Q9BXL6:p.Arg38Cys SP substitution exon 1 VAR_068223 Q9BXL6:p.Arg62Gln SP substitution exon 1 VAR_068224 Q9BXL6:p.Gly117Ser SP substitution exon 1 VAR_068225 Q9BXL6:p.Glu138Ala SP substitution exon 1 VAR_068226 Q9BXL6:p.Glu142Gly SP substitution exon 1 VAR_068227 Q9BXL6:p.Glu142Lys SP substitution exon 1 VAR_068228 Q9BXL6:p.Leu150Arg SP substitution exon 1 VAR_068229 Q9BXL6:p.His171Asn SP substitution exon 1 VAR_068230 Q9BXL6:p.Asp176His SP substitution exon 1 VAR_068231 Q9BXL6:p.Arg179His SP substitution exon 1 VAR_068232 Q9BXL6:p.Val191Leu SP substitution exon 1 VAR_068233 Q9BXL6:p.Ser200Asn SP substitution exon 1 VAR_068234 Q9BXL6:p.Asp285Gly SP substitution exon 1 VAR_068235 Q9BXL6:p.Ile593Asn SP substitution exon 1 VAR_068236 Q9BXL6:p.Arg682Trp SP substitution exon 1 VAR_068237 Q9BXL6:p.Gly714Ser SP substitution exon 1 VAR_068239 Q86WA9:p.Tyr122Cys SP substitution exon 1 VAR_068240 Q9Y2V7:p.Gly549Val SP substitution exon 1 VAR_068241 P10644:p.Tyr373His SP substitution exon 1 VAR_068242 Q08499:p.Ser190Ala SP substitution exon 1 VAR_068243 Q08499:p.Pro225Thr SP substitution exon 1 VAR_068244 Q08499:p.Phe226Ser SP substitution exon 1 VAR_068246 P48167:p.Met199Arg SP substitution exon 1 VAR_068247 Q75V66:p.Arg58Trp SP substitution exon 1 VAR_068248 Q75V66:p.Trp655Cys SP substitution exon 1 VAR_068249 Q12809:p.Ser26Ile SP substitution exon 1 VAR_068250 Q12809:p.Ile31Ser SP substitution exon 1 VAR_068251 Q12809:p.Ser55Leu SP substitution exon 1 VAR_068252 Q12809:p.Ala85Val SP substitution exon 1 VAR_068253 Q12809:p.Arg100Gln SP substitution exon 1 VAR_068254 Q12809:p.Gly238Ser SP substitution exon 1 VAR_068255 Q12809:p.Gly306Trp SP substitution exon 1 VAR_068256 Q12809:p.Ser320Leu SP substitution exon 1 VAR_068257 Q12809:p.Arg328Cys SP substitution exon 1 VAR_068258 Q12809:p.Tyr420Cys SP substitution exon 1 VAR_068259 Q12809:p.Thr421Met SP substitution exon 1 VAR_068260 Q12809:p.Ala422Thr SP substitution exon 1 VAR_068261 Q12809:p.Tyr427Ser SP substitution exon 1 VAR_068262 Q12809:p.Asp456Tyr SP substitution exon 1 VAR_068264 Q12809:p.His562Pro SP substitution exon 1 VAR_068265 Q12809:p.Ile571Leu SP substitution exon 1 VAR_068266 Q12809:p.Gly572Ser SP substitution exon 1 VAR_068267 Q12809:p.Pro596Arg SP substitution exon 1 VAR_068268 Q12809:p.Leu622Phe SP substitution exon 1 VAR_068269 Q12809:p.Thr623Ile SP substitution exon 1 VAR_068270 Q12809:p.Gly628Val SP substitution exon 1 VAR_068271 Q12809:p.Asn635Ile SP substitution exon 1 VAR_068272 Q12809:p.Phe640Val SP substitution exon 1 VAR_068273 Q12809:p.Ser641Phe SP substitution exon 1 VAR_068275 Q12809:p.Pro721Leu SP substitution exon 1 VAR_068276 Q12809:p.Arg744Pro SP substitution exon 1 VAR_068277 Q12809:p.Asp774Tyr SP substitution exon 1 VAR_068278 Q12809:p.Glu788Asp SP substitution exon 1 VAR_068279 Q12809:p.Gly820Arg SP substitution exon 1 VAR_068280 Q12809:p.Asp837Gly SP substitution exon 1 VAR_068281 Q12809:p.Arg887His SP substitution exon 1 VAR_068287 P51787:p.Pro73Thr SP substitution exon 1 VAR_068288 P51787:p.Glu115Gly SP substitution exon 1 VAR_068289 P51787:p.Cys122Tyr SP substitution exon 1 VAR_068290 P51787:p.Val133Ile SP substitution exon 1 VAR_068291 P51787:p.Cys136Phe SP substitution exon 1 VAR_068292 P51787:p.Ile204Phe SP substitution exon 1 VAR_068293 P51787:p.Ile235Asn SP substitution exon 1 VAR_068295 P51787:p.Arg259Cys SP substitution exon 1 VAR_068296 P51787:p.Arg259Leu SP substitution exon 1 VAR_068297 P51787:p.Leu273Arg SP substitution exon 1 VAR_068299 P51787:p.Tyr278His SP substitution exon 1 VAR_068300 P51787:p.Glu290Lys SP substitution exon 1 VAR_068301 P51787:p.Gly292Asp SP substitution exon 1 VAR_068302 P51787:p.Arg293Cys SP substitution exon 1 VAR_068303 P51787:p.Ala302Val SP substitution exon 1 VAR_068304 P51787:p.Trp304Arg SP substitution exon 1 VAR_068305 P51787:p.Gly314Asp SP substitution exon 1 VAR_068306 P51787:p.Gly314Arg SP substitution exon 1 VAR_068307 P51787:p.Gly316Arg SP substitution exon 1 VAR_068308 P51787:p.Thr322Ala SP substitution exon 1 VAR_068309 P51787:p.Pro343Ser SP substitution exon 1 VAR_068310 P51787:p.Ala344Glu SP substitution exon 1 VAR_068311 P51787:p.Leu374His SP substitution exon 1 VAR_068312 P51787:p.Arg380Ser SP substitution exon 1 VAR_068325 Q14524:p.Arg18Trp SP substitution exon 1 VAR_068326 Q14524:p.Val125Leu SP substitution exon 1 VAR_068327 Q14524:p.Gln245Lys SP substitution exon 1 VAR_068328 Q14524:p.Leu404Gln SP substitution exon 1 VAR_068329 Q14524:p.Val411Met SP substitution exon 1 VAR_068330 Q14524:p.Glu462Lys SP substitution exon 1 VAR_068331 Q14524:p.Pro637Leu SP substitution exon 1 VAR_068332 Q14524:p.Pro648Leu SP substitution exon 1 VAR_068333 Q14524:p.Arg971Cys SP substitution exon 1 VAR_068334 Q14524:p.Thr1069Met SP substitution exon 1 VAR_068335 Q14524:p.Glu1231Lys SP substitution exon 1 VAR_068336 Q14524:p.Ser1458Tyr SP substitution exon 1 VAR_068337 Q14524:p.Gly1481Glu SP substitution exon 1 VAR_068338 Q14524:p.Val1667Ile SP substitution exon 1 VAR_068339 Q14524:p.Thr1779Met SP substitution exon 1 VAR_068340 Q14524:p.Gln1909Arg SP substitution exon 1 VAR_068341 Q14524:p.Ala1949Ser SP substitution exon 1 VAR_068342 Q14524:p.Arg1958Gln SP substitution exon 1 VAR_068343 O76024:p.Arg558Cys SP substitution exon 1 VAR_068348 P21953:p.Arg170His SP substitution exon 1 VAR_068349 P21953:p.Gln346Arg SP substitution exon 1 VAR_068351 P56715:p.Leu172Arg SP substitution exon 1 VAR_068353 O75695:p.Cys108Tyr SP substitution exon 1 VAR_068354 O75445:p.Phe1859Cys SP substitution exon 1 VAR_068355 O75445:p.Arg2460His SP substitution exon 1 VAR_068356 O75445:p.Cys3358Tyr SP substitution exon 1 VAR_068357 O75445:p.Ser3669Arg SP substitution exon 1 VAR_068358 O75445:p.Arg4192His SP substitution exon 1 VAR_068359 P08100:p.Pro180Ser SP substitution exon 1 VAR_068360 P08100:p.Ile214Asn SP substitution exon 1 VAR_068361 P35913:p.Arg100His SP substitution exon 1 VAR_068362 P35913:p.Asp776Asn SP substitution exon 1 VAR_068363 P82279:p.Lys534Asn SP substitution exon 1 VAR_068364 P54845:p.Arg170Ser SP substitution exon 1 VAR_068365 P50570:p.Glu368Gln SP substitution exon 1 VAR_068366 P50570:p.Arg522Cys SP substitution exon 1 VAR_068367 P50570:p.Arg522His SP substitution exon 1 VAR_068368 P50570:p.Arg523Gly SP substitution exon 1 VAR_068369 P50570:p.Glu560Lys SP substitution exon 1 VAR_068370 P50570:p.Ala618Asp SP substitution exon 1 VAR_068371 P50570:p.Leu621Pro SP substitution exon 1 VAR_068372 P50570:p.Pro627His SP substitution exon 1 VAR_068373 P50570:p.Pro627Arg SP substitution exon 1 VAR_068374 Q9P2D1:p.Met37Leu SP substitution exon 1 VAR_068375 Q9P2D1:p.Tyr72Cys SP substitution exon 1 VAR_068376 Q9P2D1:p.Thr93Ala SP substitution exon 1 VAR_068377 Q9P2D1:p.Ala99Pro SP substitution exon 1 VAR_068378 Q9P2D1:p.Pro167Leu SP substitution exon 1 VAR_068379 Q9P2D1:p.Val238Leu SP substitution exon 1 VAR_068380 Q9P2D1:p.Gln254Glu SP substitution exon 1 VAR_068381 Q9P2D1:p.Arg286Gly SP substitution exon 1 VAR_068382 Q9P2D1:p.Pro439Ser SP substitution exon 1 VAR_068383 Q9P2D1:p.His524Pro SP substitution exon 1 VAR_068384 Q9P2D1:p.Gln596Lys SP substitution exon 1 VAR_068385 Q9P2D1:p.Ser699Gly SP substitution exon 1 VAR_068386 Q9P2D1:p.Lys812Asn SP substitution exon 1 VAR_068387 Q9P2D1:p.Trp840Cys SP substitution exon 1 VAR_068388 Q9P2D1:p.Thr942Ala SP substitution exon 1 VAR_068389 Q9P2D1:p.Gly975Arg SP substitution exon 1 VAR_068390 Q9P2D1:p.Trp1031Arg SP substitution exon 1 VAR_068391 Q9P2D1:p.Ile1081Ser SP substitution exon 1 VAR_068392 Q9P2D1:p.Thr1082Asn SP substitution exon 1 VAR_068393 Q9P2D1:p.Cys1101Arg SP substitution exon 1 VAR_068394 Q9P2D1:p.Cys1251Arg SP substitution exon 1 VAR_068395 Q9P2D1:p.Leu1292Pro SP substitution exon 1 VAR_068396 Q9P2D1:p.Arg1317Cys SP substitution exon 1 VAR_068397 Q9P2D1:p.Cys1318Arg SP substitution exon 1 VAR_068398 Q9P2D1:p.Arg1345His SP substitution exon 1 VAR_068399 Q9P2D1:p.Pro1594Ser SP substitution exon 1 VAR_068400 Q9P2D1:p.Gly1617Asp SP substitution exon 1 VAR_068401 Q9P2D1:p.Gly1619Val SP substitution exon 1 VAR_068402 Q9P2D1:p.Ala1672Val SP substitution exon 1 VAR_068403 Q9P2D1:p.Gly1797Val SP substitution exon 1 VAR_068404 Q9P2D1:p.Asp1812Gly SP substitution exon 1 VAR_068405 Q9P2D1:p.Asp1812His SP substitution exon 1 VAR_068406 Q9P2D1:p.Ala1972Gly SP substitution exon 1 VAR_068407 Q9P2D1:p.Arg2062Trp SP substitution exon 1 VAR_068408 Q9P2D1:p.Leu2074Pro SP substitution exon 1 VAR_068409 Q9P2D1:p.Trp2091Arg SP substitution exon 1 VAR_068410 Q9P2D1:p.Asp2097Gly SP substitution exon 1 VAR_068411 Q9P2D1:p.Val2102Ile SP substitution exon 1 VAR_068412 Q9P2D1:p.Thr2112Met SP substitution exon 1 VAR_068413 Q9P2D1:p.Asn2118Asp SP substitution exon 1 VAR_068414 Q9P2D1:p.Ala2259Thr SP substitution exon 1 VAR_068415 Q9P2D1:p.Gly2286Ala SP substitution exon 1 VAR_068416 Q9P2D1:p.Lys2312Thr SP substitution exon 1 VAR_068417 Q9P2D1:p.Leu2366Arg SP substitution exon 1 VAR_068418 Q9P2D1:p.Ala2415Ser SP substitution exon 1 VAR_068419 Q9P2D1:p.Lys2464Glu SP substitution exon 1 VAR_068420 Q9P2D1:p.Gly2488Asp SP substitution exon 1 VAR_068421 Q9P2D1:p.Arg2491Cys SP substitution exon 1 VAR_068422 Q9P2D1:p.Ile2725Val SP substitution exon 1 VAR_068423 Q9P2D1:p.Ala2780Val SP substitution exon 1 VAR_068424 Q8NEZ2:p.Lys382Asn SP substitution exon 1 VAR_068425 P50570:p.Gly358Arg SP substitution exon 1 VAR_068426 Q7Z6L0:p.Gly323Glu SP substitution exon 1 VAR_068427 Q9NYF0:p.Arg45Trp SP substitution exon 1 VAR_068428 Q9NYF0:p.Asp142Gly SP substitution exon 1 VAR_068429 Q9NYF0:p.Asn356Lys SP substitution exon 1 VAR_068434 Q16635:p.Gly240Arg SP substitution exon 1 VAR_068446 Q9HC07:p.Arg126Cys SP substitution exon 1 VAR_068447 Q9HC07:p.Arg126His SP substitution exon 1 VAR_068448 Q9HC07:p.Gly304Arg SP substitution exon 1 VAR_068449 Q8IW40:p.His154Pro SP substitution exon 1 VAR_068450 Q14232:p.Val183Phe SP substitution exon 1 VAR_068451 P49770:p.Val85Glu SP substitution exon 1 VAR_068452 P49770:p.Pro196Ser SP substitution exon 1 VAR_068453 P49770:p.Gly200Val SP substitution exon 1 VAR_068454 P49770:p.Cys268Tyr SP substitution exon 1 VAR_068455 Q9UI10:p.Arg209Gln SP substitution exon 1 VAR_068456 Q9UI10:p.Leu269Arg SP substitution exon 1 VAR_068457 Q13144:p.Asp62Val SP substitution exon 1 VAR_068458 Q13144:p.Leu68Ser SP substitution exon 1 VAR_068459 Q13144:p.Ala74Thr SP substitution exon 1 VAR_068460 Q13144:p.Arg113Cys SP substitution exon 1 VAR_068461 Q13144:p.Arg269Gly SP substitution exon 1 VAR_068462 Q13144:p.Arg269Gln SP substitution exon 1 VAR_068463 Q13144:p.Asp270His SP substitution exon 1 VAR_068464 Q13144:p.Cys310Phe SP substitution exon 1 VAR_068465 Q13144:p.Arg315Cys SP substitution exon 1 VAR_068466 Q13144:p.Cys335Arg SP substitution exon 1 VAR_068467 Q13144:p.Cys335Ser SP substitution exon 1 VAR_068468 Q13144:p.Asn376Asp SP substitution exon 1 VAR_068470 Q9NR50:p.Leu27Gln SP substitution exon 1 VAR_068471 Q9NR50:p.Gly47Glu SP substitution exon 1 VAR_068472 Q9NR50:p.Ile346Thr SP substitution exon 1 VAR_068473 P50219:p.Arg243Trp SP substitution exon 1 VAR_068475 Q14524:p.Asp1792Asn SP substitution exon 1 VAR_068477 Q9H6L5:p.Gly216Arg SP substitution exon 1 VAR_068479 P01138:p.Ser187Asn SP substitution exon 1 VAR_068480 P04629:p.Arg6Trp SP substitution exon 1 VAR_068481 P04629:p.Tyr359Cys SP substitution exon 1 VAR_068482 P04629:p.Glu492Lys SP substitution exon 1 VAR_068483 P78411:p.Ala150Pro SP substitution exon 1 VAR_068484 P78411:p.Asn166Lys SP substitution exon 1 VAR_068485 O60706:p.His60Tyr SP substitution exon 1 VAR_068486 O60706:p.Asp207Glu SP substitution exon 1 VAR_068487 O60706:p.Gly380Cys SP substitution exon 1 VAR_068488 O60706:p.Pro432Leu SP substitution exon 1 VAR_068489 O60706:p.Ala478Val SP substitution exon 1 VAR_068490 O60706:p.Ser1020Pro SP substitution exon 1 VAR_068491 O60706:p.Phe1039Ser SP substitution exon 1 VAR_068492 O60706:p.Cys1043Tyr SP substitution exon 1 VAR_068493 O60706:p.Ser1054Tyr SP substitution exon 1 VAR_068494 O60706:p.Arg1116Cys SP substitution exon 1 VAR_068495 O60706:p.Arg1116His SP substitution exon 1 VAR_068496 O60706:p.Arg1154Gln SP substitution exon 1 VAR_068497 O60706:p.Arg1154Trp SP substitution exon 1 VAR_068498 Q9HBA0:p.Gly270Val SP substitution exon 1 VAR_068499 Q9HBA0:p.Arg271Pro SP substitution exon 1 VAR_068500 Q9HBA0:p.Phe273Leu SP substitution exon 1 VAR_068501 Q2M1K9:p.Pro913Leu SP substitution exon 1 VAR_068503 Q9UPV0:p.Gln11Pro SP substitution exon 1 VAR_068504 Q9UPV0:p.Arg93Trp SP substitution exon 1 VAR_068505 Q9NQT5:p.Gly31Ala SP substitution exon 1 VAR_068506 Q9NQT5:p.Asp132Ala SP substitution exon 1 VAR_068507 Q9NQT5:p.Ala139Pro SP substitution exon 1 VAR_068508 Q9NQT5:p.Trp238Arg SP substitution exon 1 VAR_068509 Q8IXK2:p.Tyr396Cys SP substitution exon 1 VAR_068510 P21817:p.His382Asn SP substitution exon 1 VAR_068511 P21817:p.Glu1058Lys SP substitution exon 1 VAR_068512 P21817:p.Tyr1088Cys SP substitution exon 1 VAR_068513 P21817:p.Lys1393Arg SP substitution exon 1 VAR_068514 P21817:p.Arg1679His SP substitution exon 1 VAR_068515 P21817:p.His2204Gln SP substitution exon 1 VAR_068516 P21817:p.Arg2508Gly SP substitution exon 1 VAR_068517 P21817:p.Arg3366His SP substitution exon 1 VAR_068518 P21817:p.Tyr3933Cys SP substitution exon 1 VAR_068519 P21817:p.Pro4493Ala SP substitution exon 1 VAR_068520 P21817:p.Gly4743Asp SP substitution exon 1 VAR_068521 P21817:p.Thr4882Met SP substitution exon 1 VAR_068522 O76094:p.Arg207His SP substitution exon 1 VAR_068523 Q96RY7:p.Gly212Arg SP substitution exon 1 VAR_068524 Q96RY7:p.Ile233Met SP substitution exon 1 VAR_068525 Q96RY7:p.Val292Met SP substitution exon 1 VAR_068526 Q96RY7:p.Tyr311Cys SP substitution exon 1 VAR_068527 Q96RY7:p.Gly522Glu SP substitution exon 1 VAR_068528 Q96RY7:p.Arg576Gln SP substitution exon 1 VAR_068529 Q96RY7:p.Glu664Lys SP substitution exon 1 VAR_068531 P07902:p.Gln9His SP substitution exon 1 VAR_068532 P07902:p.Thr23Ala SP substitution exon 1 VAR_068533 P07902:p.Asp28His SP substitution exon 1 VAR_068534 P07902:p.Arg33His SP substitution exon 1 VAR_068535 P07902:p.Tyr34Asn SP substitution exon 1 VAR_068536 P07902:p.Ser112Arg SP substitution exon 1 VAR_068537 P07902:p.His132Gln SP substitution exon 1 VAR_068538 P07902:p.Val168Leu SP substitution exon 1 VAR_068539 P07902:p.Ile170Thr SP substitution exon 1 VAR_068540 P07902:p.Ser181Ala SP substitution exon 1 VAR_068541 P07902:p.Pro185His SP substitution exon 1 VAR_068542 P07902:p.Pro185Ser SP substitution exon 1 VAR_068543 P07902:p.Ser192Gly SP substitution exon 1 VAR_068544 P07902:p.Arg201Cys SP substitution exon 1 VAR_068545 P07902:p.Glu220Lys SP substitution exon 1 VAR_068546 P07902:p.Arg223Ser SP substitution exon 1 VAR_068547 P07902:p.Leu227Pro SP substitution exon 1 VAR_068548 P07902:p.Arg259Gln SP substitution exon 1 VAR_068549 P07902:p.Pro265Ala SP substitution exon 1 VAR_068550 P07902:p.Ile278Asn SP substitution exon 1 VAR_068551 P07902:p.Leu289Phe SP substitution exon 1 VAR_068552 P07902:p.Glu291Val SP substitution exon 1 VAR_068553 P07902:p.Leu327Pro SP substitution exon 1 VAR_068554 P07902:p.Leu342Ile SP substitution exon 1 VAR_068555 P07902:p.Ala345Asp SP substitution exon 1 VAR_068556 Q8WUU5:p.Ser102Pro SP substitution exon 1 VAR_068557 Q8WUU5:p.Arg233Trp SP substitution exon 1 VAR_068558 P08754:p.Gly40Arg SP substitution exon 1 VAR_068559 Q15147:p.Asn329Thr SP substitution exon 1 VAR_068560 Q15147:p.Arg621Cys SP substitution exon 1 VAR_068561 Q15147:p.Arg621His SP substitution exon 1 VAR_068562 Q15147:p.Tyr623Cys SP substitution exon 1 VAR_068563 Q15147:p.Asn650His SP substitution exon 1 VAR_068564 P10253:p.Ser46Pro SP substitution exon 1 VAR_068565 P10253:p.Arg74His SP substitution exon 1 VAR_068566 P10253:p.Arg89His SP substitution exon 1 VAR_068567 P10253:p.Cys103Arg SP substitution exon 1 VAR_068568 P10253:p.Cys108Gly SP substitution exon 1 VAR_068569 P10253:p.Cys127Phe SP substitution exon 1 VAR_068570 P10253:p.Arg190His SP substitution exon 1 VAR_068571 P10253:p.Pro217Leu SP substitution exon 1 VAR_068572 P10253:p.Val220Leu SP substitution exon 1 VAR_068573 P10253:p.Val222Met SP substitution exon 1 VAR_068574 P10253:p.Arg224Pro SP substitution exon 1 VAR_068575 P10253:p.Arg224Gln SP substitution exon 1 VAR_068576 P10253:p.Thr234Lys SP substitution exon 1 VAR_068577 P10253:p.Thr234Arg SP substitution exon 1 VAR_068578 P10253:p.Ser251Leu SP substitution exon 1 VAR_068579 P10253:p.Ser254Leu SP substitution exon 1 VAR_068580 P10253:p.Pro266Ser SP substitution exon 1 VAR_068581 P10253:p.Thr271Ala SP substitution exon 1 VAR_068582 P10253:p.Pro285Ser SP substitution exon 1 VAR_068583 P10253:p.Asn290Asp SP substitution exon 1 VAR_068584 P10253:p.Leu291Phe SP substitution exon 1 VAR_068585 P10253:p.Leu291Pro SP substitution exon 1 VAR_068586 P10253:p.Val310Gly SP substitution exon 1 VAR_068587 P10253:p.Asn316Ile SP substitution exon 1 VAR_068588 P10253:p.Met318Lys SP substitution exon 1 VAR_068589 P10253:p.Gly335Glu SP substitution exon 1 VAR_068590 P10253:p.Gly335Arg SP substitution exon 1 VAR_068591 P10253:p.Pro347Arg SP substitution exon 1 VAR_068592 P10253:p.Gly359Arg SP substitution exon 1 VAR_068593 P10253:p.Met391Val SP substitution exon 1 VAR_068594 P10253:p.Pro397Leu SP substitution exon 1 VAR_068595 P10253:p.Asp419Val SP substitution exon 1 VAR_068596 P10253:p.Pro457His SP substitution exon 1 VAR_068597 P10253:p.Tyr458Cys SP substitution exon 1 VAR_068598 P10253:p.Pro482Arg SP substitution exon 1 VAR_068599 P10253:p.Gly483Val SP substitution exon 1 VAR_068600 P10253:p.Ala486Pro SP substitution exon 1 VAR_068601 P10253:p.Glu521Gln SP substitution exon 1 VAR_068602 P10253:p.Pro522Ser SP substitution exon 1 VAR_068603 P10253:p.Ser523Tyr SP substitution exon 1 VAR_068604 P10253:p.Phe525Tyr SP substitution exon 1 VAR_068605 P10253:p.Ile557Phe SP substitution exon 1 VAR_068606 P10253:p.Cys558Ser SP substitution exon 1 VAR_068607 P10253:p.Asn570Lys SP substitution exon 1 VAR_068608 P10253:p.His572Gln SP substitution exon 1 VAR_068609 P10253:p.Tyr575Cys SP substitution exon 1 VAR_068610 P10253:p.Gly576Arg SP substitution exon 1 VAR_068611 P10253:p.Arg585Lys SP substitution exon 1 VAR_068612 P10253:p.Arg594His SP substitution exon 1 VAR_068613 P10253:p.Arg594Pro SP substitution exon 1 VAR_068614 P10253:p.Ser601Leu SP substitution exon 1 VAR_068615 P10253:p.Thr602Ala SP substitution exon 1 VAR_068616 P10253:p.Ala610Val SP substitution exon 1 VAR_068617 P10253:p.Gly611Asp SP substitution exon 1 VAR_068618 P10253:p.His612Tyr SP substitution exon 1 VAR_068619 P10253:p.Thr614Lys SP substitution exon 1 VAR_068620 P10253:p.Ser627Pro SP substitution exon 1 VAR_068621 P10253:p.Pro629Leu SP substitution exon 1 VAR_068622 P10253:p.Asn635Lys SP substitution exon 1 VAR_068623 P10253:p.Gly638Val SP substitution exon 1 VAR_068624 P10253:p.Gly648Asp SP substitution exon 1 VAR_068626 P10253:p.Arg702Leu SP substitution exon 1 VAR_068627 P10253:p.Thr711Arg SP substitution exon 1 VAR_068628 P10253:p.Val718Ile SP substitution exon 1 VAR_068629 P10253:p.Thr737Asn SP substitution exon 1 VAR_068630 P10253:p.Gln743Lys SP substitution exon 1 VAR_068631 P10253:p.Trp746Gly SP substitution exon 1 VAR_068632 P10253:p.Trp746Ser SP substitution exon 1 VAR_068633 P10253:p.Arg819Pro SP substitution exon 1 VAR_068634 P10253:p.Val916Phe SP substitution exon 1 VAR_068635 P10253:p.Leu935Pro SP substitution exon 1 VAR_068636 Q92959:p.Ile85Phe SP substitution exon 1 VAR_068637 Q92959:p.Arg97His SP substitution exon 1 VAR_068638 Q92959:p.Gly181Ala SP substitution exon 1 VAR_068639 Q92959:p.Gly181Asp SP substitution exon 1 VAR_068640 Q92959:p.Ser204Leu SP substitution exon 1 VAR_068641 Q92959:p.Gly255Arg SP substitution exon 1 VAR_068646 Q9Y2Z4:p.Gly46Asp SP substitution exon 1 VAR_068647 Q14767:p.Val1177Met SP substitution exon 1 VAR_068648 Q15526:p.Ala56Gly SP substitution exon 1 VAR_068649 Q15526:p.Leu90Pro SP substitution exon 1 VAR_068650 Q15526:p.Val177Gly SP substitution exon 1 VAR_068651 Q15526:p.Gly205Glu SP substitution exon 1 VAR_068652 Q15526:p.Met235Thr SP substitution exon 1 VAR_068653 Q15526:p.Ala248Asp SP substitution exon 1 VAR_068654 Q15526:p.Gly257Arg SP substitution exon 1 VAR_068655 Q8WVQ1:p.Asp112Glu SP substitution exon 1 VAR_068656 Q8WVQ1:p.Trp125Cys SP substitution exon 1 VAR_068657 Q8WVQ1:p.Met165Thr SP substitution exon 1 VAR_068658 Q8WVQ1:p.Leu224Pro SP substitution exon 1 VAR_068659 Q8WVQ1:p.Val226Met SP substitution exon 1 VAR_068660 Q8WVQ1:p.Ser303Arg SP substitution exon 1 VAR_068661 Q8WVQ1:p.Ala323Thr SP substitution exon 1 VAR_068662 Q8WVQ1:p.Ala360Asp SP substitution exon 1 VAR_068663 Q8WVQ1:p.Ile374Asn SP substitution exon 1 VAR_068664 Q8WVQ1:p.Gly391Glu SP substitution exon 1 VAR_068665 Q8IU80:p.Glu114Lys SP substitution exon 1 VAR_068666 Q8IU80:p.Ala118Asp SP substitution exon 1 VAR_068667 Q8IU80:p.Gly228Asp SP substitution exon 1 VAR_068668 Q8IU80:p.Leu235Pro SP substitution exon 1 VAR_068669 Q8IU80:p.Tyr418Cys SP substitution exon 1 VAR_068670 Q8IU80:p.Arg446Trp SP substitution exon 1 VAR_068671 Q8IU80:p.Glu522Lys SP substitution exon 1 VAR_068672 Q8IU80:p.Gly603Arg SP substitution exon 1 VAR_068673 Q8IU80:p.Leu674Phe SP substitution exon 1 VAR_068674 Q8IU80:p.Pro765Ala SP substitution exon 1 VAR_068675 Q8IU80:p.Val795Ile SP substitution exon 1 VAR_068676 Q9UPZ6:p.Asn583His SP substitution exon 1 VAR_068677 Q9UPZ6:p.Asp906Glu SP substitution exon 1 VAR_068678 Q9UPZ6:p.Asp1652Glu SP substitution exon 1