BGMUT_10 alias A201 intronic BGMUT_10 commonName A201 BGMUT_10 phenoCommon A2 BGMUT_100 commonName Aw07 BGMUT_100 phenoCommon Aw BGMUT_100 protEffect P156L; R198W; 354fs + 21aa BGMUT_101 commonName Aw08 BGMUT_101 phenoCommon Aw BGMUT_101 protEffect P74S; T163M; R176G; G268R BGMUT_103 commonName Ael01 BGMUT_103 phenoCommon Ael BGMUT_103 protEffect 269fs BGMUT_104 commonName Ael02 BGMUT_104 phenoCommon Ael BGMUT_104 protEffect P156L; F216I BGMUT_105 alias Aelvar BGMUT_105 commonName Ael03 BGMUT_105 phenoCommon Ael BGMUT_105 protEffect 269fs BGMUT_106 commonName Ael04 BGMUT_106 phenoCommon Ael BGMUT_106 protEffect no full transcript; alternatively spliced fragments BGMUT_107 commonName Ael05 BGMUT_107 phenoCommon Ael BGMUT_107 protEffect P156L; I256T BGMUT_108 alias A112 BGMUT_108 commonName Am01 BGMUT_108 phenoCommon Am BGMUT_108 protEffect P156L A254V BGMUT_109 commonName Am02 BGMUT_109 phenoCommon Am BGMUT_109 protEffect V222M BGMUT_11 commonName A202 BGMUT_11 phenoCommon A2 BGMUT_11 protEffect R352W BGMUT_110 commonName cis-AB01 BGMUT_110 phenoCommon cisAB BGMUT_110 protEffect P156L; G268A BGMUT_111 commonName cis-AB02 BGMUT_111 phenoCommon cisAB BGMUT_111 protEffect R176G; G235S; G268A BGMUT_112 commonName cis-AB03 BGMUT_112 phenoCommon cisAB BGMUT_112 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_113 commonName cis-AB04 BGMUT_113 phenoCommon cisAB BGMUT_113 protEffect P156L; L266M BGMUT_114 commonName B301 BGMUT_114 phenoCommon B3 BGMUT_114 protEffect R176G; G235S; L266M; G268A; R352W BGMUT_115 commonName B302 BGMUT_115 phenoCommon B3 BGMUT_115 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_117 commonName B304 BGMUT_117 phenoCommon B3 BGMUT_117 protEffect D83Y; R176G; G235S; L266M; G268A BGMUT_118 commonName B(A)01 BGMUT_118 phenoCommon B(A) BGMUT_118 protEffect R176G; L266M; G268A BGMUT_119 commonName B(A)02 BGMUT_119 phenoCommon B(A) BGMUT_119 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_12 commonName A203 BGMUT_12 phenoCommon A2 BGMUT_12 protEffect R352G BGMUT_120 alias B(A)var BGMUT_120 commonName B(A)03 BGMUT_120 phenoCommon B(A) BGMUT_120 protEffect R176G; L266M; G268A BGMUT_121 alias B104 BGMUT_121 commonName Bx01 BGMUT_121 phenoCommon Bx BGMUT_121 protEffect R176G; G235S; L266M; G268A; D291N BGMUT_122 alias B105 BGMUT_122 commonName Bel01 BGMUT_122 phenoCommon Bel. very low B antigen expression BGMUT_122 protEffect R176G; M214R; G235S; L266M; G268A BGMUT_123 alias B106 BGMUT_123 commonName Bel02 BGMUT_123 phenoCommon Bel BGMUT_123 protEffect R176; E223D; G235S; L266M; G268A BGMUT_124 commonName Bel03 BGMUT_124 phenoCommon Bel BGMUT_124 protEffect R168W; R176G; G235S; L266M; G268A BGMUT_125 commonName Bel04 BGMUT_125 phenoCommon Bel BGMUT_125 protEffect P156L; F216I; L266M; G268A; V277M BGMUT_126 commonName Bw02 BGMUT_126 phenoCommon Bw BGMUT_126 protEffect R176G; G235S; L266M; G268A; D291E BGMUT_127 commonName Bw03 BGMUT_127 phenoCommon Bw BGMUT_127 protEffect R176G; G235S; R241W; L266M; G268A BGMUT_128 commonName Bw04 BGMUT_128 phenoCommon Bw BGMUT_128 protEffect R176G; D183G; G235S; R241W; L266M; G268A BGMUT_129 commonName Bw05 BGMUT_129 phenoCommon Bw BGMUT_129 protEffect R176GR180H; G235S; L266M; G268A BGMUT_13 commonName A204 BGMUT_13 phenoCommon A2 BGMUT_13 protEffect R176G; G235S; V277M BGMUT_130 commonName Bw06 BGMUT_130 phenoCommon Bw BGMUT_130 protEffect R176G; G235S; L266M; G268A; K346E BGMUT_131 commonName Bw07 BGMUT_131 phenoCommon Bw BGMUT_131 protEffect R176G; G235S; L266M; G268A; R352Q BGMUT_132 commonName Bw08 BGMUT_132 phenoCommon Bw BGMUT_132 protEffect R176G; G235S; L266M; G268A; M288R BGMUT_133 commonName Bw09 BGMUT_133 phenoCommon Bw BGMUT_133 protEffect R176G; G235S; L266M; K346M BGMUT_134 commonName Bw10 BGMUT_134 protEffect R176G; M186V; G235S; L266M; G268A BGMUT_136 commonName C4A*1 BGMUT_136 phenoCommon Chi 3, 4, 5, 6; Rg - BGMUT_136 protEffect D1054G; N1157S; V1188A; L1191R; BGMUT_137 commonName C4A*3(WH) BGMUT_137 phenoCommon Ch6; Rg1 BGMUT_137 protEffect N1157S BGMUT_139 commonName C4B*1 BGMUT_139 phenoCommon Ch1, 2, 4, 5; Rg1 BGMUT_139 protEffect S1157N BGMUT_14 commonName A205 BGMUT_14 phenoCommon A2 BGMUT_14 protEffect P156L; R337G BGMUT_140 commonName C4B*2 BGMUT_140 phenoCommon Ch1, 3, 5, 6; Rg- BGMUT_140 protEffect G1054D BGMUT_141 commonName C4B*5 BGMUT_141 phenoCommon Ch4, 6; Rg1 BGMUT_141 protEffect G1054D; A1188V; R1191V; BGMUT_143 commonName AQP1-2 BGMUT_143 phenoCommon CO2; CO3; Co(a-,b+) BGMUT_143 protEffect A45V BGMUT_144 commonName AQP1-n1 BGMUT_144 phenoCommon Co(a-,b-) BGMUT_144 protEffect deletion of exon 1 encoded aa BGMUT_145 commonName AQP1-n2 BGMUT_145 phenoCommon Co(a-,b-) BGMUT_145 protEffect G107fs BGMUT_146 commonName AQP1-n3 BGMUT_146 phenoCommon Co(a-,b-) BGMUT_146 protEffect P38L BGMUT_147 commonName AQP1-n4 BGMUT_147 phenoCommon Co(a-,b-) BGMUT_147 protEffect N192K BGMUT_148 commonName AQP1-n5 BGMUT_148 phenoCommon Co(a-,b-) BGMUT_148 protEffect 78fs BGMUT_149 commonName AQP1-n6 BGMUT_149 protEffect Q47R BGMUT_15 commonName A206 BGMUT_15 phenoCommon A2 BGMUT_15 protEffect 354fs + 21aa BGMUT_151 alias DAF 679C BGMUT_151 commonName DAF Cr(a-) BGMUT_151 phenoCommon Cr(a-) BGMUT_151 protEffect A227P BGMUT_152 alias DAF 155T BGMUT_152 commonName DAF Tc-b BGMUT_152 phenoCommon Tc-b BGMUT_152 protEffect R52L BGMUT_153 alias DAF 155C BGMUT_153 commonName DAF Tc-c BGMUT_153 phenoCommon Tc-c BGMUT_153 protEffect R52P BGMUT_155 alias DAF 239A BGMUT_155 commonName DAF Es(a-) BGMUT_155 phenoCommon Es(a-) BGMUT_155 protEffect I80N BGMUT_156 alias DAF 261A BGMUT_156 commonName DAF IFC- BGMUT_156 phenoCommon null; Inab- BGMUT_156 protEffect W87X BGMUT_157 alias DAF 263A BGMUT_157 commonName DAF IFC- BGMUT_157 phenoCommon null; Inab- BGMUT_157 protEffect S88X BGMUT_158 alias DAF 245T BGMUT_158 commonName DAF WES-a BGMUT_158 phenoCommon WES-a BGMUT_158 protEffect L82R BGMUT_159 alias DAF 749T BGMUT_159 commonName DAF UMC- BGMUT_159 phenoCommon UMC- BGMUT_159 protEffect T250M BGMUT_16 commonName A207 BGMUT_16 phenoCommon A2 BGMUT_16 protEffect R180P BGMUT_160 alias DAF 719A BGMUT_160 commonName DAF GUTI- BGMUT_160 phenoCommon GUT1- BGMUT_160 protEffect R240H BGMUT_161 alias DAF 647T BGMUT_161 commonName DAF SERF- BGMUT_161 phenoCommon SERF- BGMUT_161 protEffect P216L BGMUT_162 alias DAF 726G BGMUT_162 commonName DAF Zena (CROM13) BGMUT_162 phenoCommon Zena- BGMUT_162 protEffect H242Q BGMUT_164 alias DO 378T; 624C; 793G BGMUT_164 commonName DOB BGMUT_164 phenoCommon DOb BGMUT_164 protEffect Y126Y; L208L; N265D BGMUT_165 alias DO 323T, 378T BGMUT_165 commonName DO HY BGMUT_165 phenoCommon Hy + BGMUT_165 protEffect G108V BGMUT_166 alias DO 350T, 378T BGMUT_166 commonName DO JO BGMUT_166 phenoCommon Jo(a -) BGMUT_166 protEffect T117I BGMUT_167 alias DO intron 1 3'G BGMUT_167 commonName DO GY1 BGMUT_167 phenoCommon Donull; Gy(a-) BGMUT_167 protEffect DOB exon 2 del BGMUT_168 alias DO intron 1 5'C BGMUT_168 commonName DO GY4 BGMUT_168 phenoCommon Donull; Gy(a-) BGMUT_168 protEffect DOB exon 2 del BGMUT_169 alias DO 442T BGMUT_169 commonName DO GY5 BGMUT_169 phenoCommon Donull; Gy(a-) BGMUT_169 protEffect Q148X BGMUT_17 alias B101 exonic BGMUT_17 commonName B101 BGMUT_17 phenoCommon B BGMUT_17 protEffect R176G; G235S; L266M; G268A BGMUT_170 commonName DO 343-350del BGMUT_170 phenoCommon Donull; Gy(a-) BGMUT_170 protEffect 114 fs + X BGMUT_171 alias DO 323T, 898G BGMUT_171 commonName DO HY1 BGMUT_171 phenoCommon Hy- BGMUT_171 protEffect G108V; N265D; L300V BGMUT_172 alias DO 323T BGMUT_172 commonName DO HY2 BGMUT_172 phenoCommon Hy- BGMUT_172 protEffect G108V; N265D; BGMUT_174 commonName SLC4A1 - DIa BGMUT_174 phenoCommon DIa (Memphis neg) BGMUT_174 protEffect P854L BGMUT_175 commonName SLC4A1 - Memphis-DIb BGMUT_175 phenoCommon DIb BGMUT_175 protEffect K56E BGMUT_176 commonName SLC4A1 - Memphis-DIa BGMUT_176 phenoCommon DIa BGMUT_176 protEffect K56E; P854L BGMUT_177 commonName SLC4A1 - Tuscaloosa BGMUT_177 protEffect K56E; P327R BGMUT_178 commonName SLC4A1 - Montefiore BGMUT_178 protEffect E40K BGMUT_179 commonName SLC4A1 - Foggia BGMUT_179 protEffect 54-55fs BGMUT_18 alias B101 intronic BGMUT_18 commonName B101 BGMUT_18 phenoCommon B BGMUT_18 protEffect none BGMUT_180 commonName SLC4A1 - Kagoshima BGMUT_180 protEffect 56fs BGMUT_181 commonName SLC4A1 - Hodonin BGMUT_181 protEffect W81X BGMUT_182 commonName SLC4A1 - Cape Town BGMUT_182 protEffect E90K BGMUT_183 commonName SLC4A1 - Napoli I BGMUT_183 protEffect 99-100fs BGMUT_184 commonName SLC4A1 - Fukayama I BGMUT_184 protEffect 112-113fs BGMUT_185 commonName SLC4A1 - Nachod BGMUT_185 protEffect 117-121del GTVLL BGMUT_186 commonName SLC4A1 - Fukoka BGMUT_186 protEffect G130R BGMUT_187 commonName SLC4A1 - Osnabruck I BGMUT_187 protEffect R150X BGMUT_188 commonName SLC4A1 - Worcester BGMUT_188 protEffect 172-173fs BGMUT_189 commonName SLC4A1 - Fukayama II BGMUT_189 protEffect 183fs BGMUT_19 commonName B101 var1 BGMUT_19 phenoCommon B BGMUT_19 protEffect R176G; G235S; L266M; G268A BGMUT_190 commonName SLC4A1 - Campinas BGMUT_190 protEffect 203fs BGMUT_191 commonName SLC4A1 - Bohain BGMUT_191 protEffect 241fs BGMUT_192 commonName SLC4A1 - Princeton BGMUT_192 protEffect 273-275fs BGMUT_193 commonName SLC4A1 - Boston BGMUT_193 protEffect A285D BGMUT_194 commonName SLC4A1 - Noirterre BGMUT_194 protEffect Q330X BGMUT_195 commonName SLC4A1 - Bruggen BGMUT_195 protEffect 419fs BGMUT_196 commonName SLC4A1 - Benesov BGMUT_196 protEffect G455E BGMUT_197 commonName SLC4A1 - Bicetre II BGMUT_197 protEffect 456fs BGMUT_198 commonName SLC4A1 - Pribram BGMUT_198 protEffect 477fs BGMUT_199 commonName SLC4A1 - Coimbra BGMUT_199 protEffect V488M BGMUT_20 commonName B102 BGMUT_20 phenoCommon B BGMUT_20 protEffect R176G; G235S L266M; G268A BGMUT_200 commonName SLC4A1 - Bicetre I BGMUT_200 protEffect R490C BGMUT_201 commonName SLC4A1 - Evry BGMUT_201 protEffect 492fs BGMUT_202 commonName SLC4A1 - Milano BGMUT_202 protEffect 498ins, 23 residues BGMUT_203 commonName SLC4A1 - Dresden BGMUT_203 protEffect R518C BGMUT_204 commonName SLC4A1 - Smichov BGMUT_204 protEffect 616fs BGMUT_205 commonName SLC4A1 - Trutnov BGMUT_205 protEffect Y628X BGMUT_206 commonName SLC4A1 - Hobart BGMUT_206 protEffect 646-647fs BGMUT_207 commonName SLC4A1 - Osnabruck II BGMUT_207 protEffect 663-664fs BGMUT_208 commonName SLC4A1 - Most BGMUT_208 protEffect P707L BGMUT_209 commonName SLC4A1 - Okinawa BGMUT_209 protEffect G714R BGMUT_21 commonName B103 BGMUT_21 phenoCommon B BGMUT_21 protEffect R176G; G235S L266M; G268A BGMUT_210 commonName SLC4A1 - Prague II BGMUT_210 protEffect R760Q BGMUT_211 alias SCLCA1 2278T BGMUT_211 commonName SLC4A1 - Hradec Kralove BGMUT_211 protEffect R760W BGMUT_212 commonName SLC4A1 - Chur BGMUT_212 protEffect G771D BGMUT_213 commonName SLC4A1 - Napoli II BGMUT_213 protEffect I783N BGMUT_214 commonName SLC4A1 - Jablonec BGMUT_214 protEffect R808C BGMUT_215 commonName SLC4A1 - Nara BGMUT_215 protEffect R808H BGMUT_216 commonName SLC4A1 - Prague I BGMUT_216 protEffect 822fs BGMUT_217 commonName SLC4A1 - Birmingham BGMUT_217 protEffect H834P BGMUT_218 commonName SLC4A1 - Philadelphia BGMUT_218 protEffect T837M BGMUT_219 commonName SLC4A1 - Tokyo BGMUT_219 protEffect T837A BGMUT_22 commonName B107 BGMUT_22 phenoCommon B BGMUT_22 protEffect R176G G235S L266M G268A BGMUT_220 commonName SLC4A1 - HT BGMUT_220 protEffect P868L BGMUT_221 commonName SLC4A1 - Prague III BGMUT_221 protEffect R870W BGMUT_222 commonName SLC4A1 - Vesuvio BGMUT_222 protEffect 984fs BGMUT_223 commonName SLC4A1 - SAO BGMUT_223 protEffect K56E; del400-408 BGMUT_224 commonName SLC4A1 - dRTA1 BGMUT_224 protEffect R589H BGMUT_225 commonName SLC4A1 - dRTA2(1765T) BGMUT_225 protEffect R589C BGMUT_226 commonName SLC4A1 - dRTA2(1765A) BGMUT_226 protEffect R589S BGMUT_227 commonName SLC4A1 - dRTA2(2703del) BGMUT_227 protEffect del901-911 BGMUT_228 commonName SLC4A1 - dRTA3 BGMUT_228 protEffect S613F BGMUT_229 commonName SLC4A1 - dRTA4 BGMUT_229 protEffect M31T; K56E; G701D BGMUT_23 alias O01 exonic BGMUT_23 commonName O01 BGMUT_23 phenoCommon O BGMUT_23 protEffect 88fs + truncation BGMUT_230 commonName SLC4A1 - dRTA5 BGMUT_230 protEffect A858D BGMUT_231 commonName SLC4A1 - dRTA6 BGMUT_231 protEffect 850delV BGMUT_232 commonName SLC4A1 - dRTA6 BGMUT_232 protEffect G701D BGMUT_233 commonName SLC4A1 - Wra BGMUT_233 phenoCommon Wra BGMUT_233 protEffect E658K BGMUT_234 commonName SLC4A1 - Wda BGMUT_234 phenoCommon Wda BGMUT_234 protEffect V557M BGMUT_235 commonName SLC4A1 - Rba BGMUT_235 phenoCommon Rba BGMUT_235 protEffect P548L BGMUT_236 commonName SLC4A1 - WARR BGMUT_236 protEffect T552I BGMUT_237 commonName SLC4A1 - ELO BGMUT_237 phenoCommon ELO BGMUT_237 protEffect R432W BGMUT_238 commonName SLC4A1 - Wu BGMUT_238 phenoCommon Wu BGMUT_238 protEffect G565A BGMUT_239 commonName SLC4A1 - Bpa BGMUT_239 phenoCommon Bpa BGMUT_239 protEffect N569K BGMUT_24 alias O01 intronic BGMUT_24 commonName O01 BGMUT_24 phenoCommon O BGMUT_240 commonName SLC4A1 - Moa BGMUT_240 phenoCommon Moa BGMUT_240 protEffect R656H BGMUT_241 commonName SLC4A1 - Hga BGMUT_241 phenoCommon Hga BGMUT_241 protEffect R656C BGMUT_242 commonName SLC4A1 - Vga BGMUT_242 protEffect Y555H BGMUT_243 commonName SLC4A1 - Swa1 BGMUT_243 phenoCommon Swa BGMUT_243 protEffect R646Q BGMUT_244 commonName SLC4A1 - Swa2 BGMUT_244 phenoCommon Swa BGMUT_244 protEffect R646W BGMUT_245 commonName SLC4A1 - BOW BGMUT_245 phenoCommon BOW BGMUT_245 protEffect P561S BGMUT_246 commonName SLC4A1 - NFLD BGMUT_246 phenoCommon NFLD BGMUT_246 protEffect E429D; P561A BGMUT_247 commonName SLC4A1 - Jna BGMUT_247 phenoCommon Jna BGMUT_247 protEffect P566S BGMUT_248 commonName SLC4A1 - KREP BGMUT_248 phenoCommon KREP BGMUT_248 protEffect P566A BGMUT_249 commonName SLC4A1 - Tra BGMUT_249 phenoCommon Tra BGMUT_249 protEffect K551N BGMUT_25 commonName O011 BGMUT_25 phenoCommon O BGMUT_250 commonName SLC4A1 - Fra BGMUT_250 phenoCommon Fra BGMUT_250 protEffect E480K BGMUT_251 alias FYA 125G BGMUT_251 commonName FYA BGMUT_251 phenoCommon FY(a+b-) BGMUT_251 protEffect D42G BGMUT_253 alias FYB -33C BGMUT_253 commonName FYB ES BGMUT_253 phenoCommon FY(a-b-) BGMUT_253 protEffect protein is not expressed in erythroid cells. BGMUT_254 alias FYB 298A BGMUT_254 commonName FYB 1 BGMUT_254 phenoCommon FY(a-b+) BGMUT_254 protEffect A100T BGMUT_255 alias FYB 265T, 298A BGMUT_255 commonName FYB 2; FYBWK BGMUT_255 phenoCommon FY(a-b+wk) BGMUT_255 protEffect R89C; A100T BGMUT_256 alias FYB 145T, 298A BGMUT_256 commonName FYB 3 BGMUT_256 phenoCommon FY(a-b+wk) BGMUT_256 protEffect A49S; R89C; A100T BGMUT_257 alias FYA 281-295del BGMUT_257 commonName FYAO (AZ) BGMUT_257 phenoCommon FY(a-b-) BGMUT_257 protEffect putative truncated protein of 118 residues BGMUT_258 alias FYA 293A BGMUT_258 commonName FYAO (Ye) BGMUT_258 phenoCommon FY(a-b-) BGMUT_258 protEffect W98X BGMUT_259 alias FYA 413A BGMUT_259 commonName FYAO(NE) BGMUT_259 phenoCommon FY(a-b-) BGMUT_259 protEffect W138X BGMUT_26 alias O02 exonic BGMUT_26 commonName O02 BGMUT_26 phenoCommon O BGMUT_26 protEffect V36F; R63H; P74S; 88fs + truncation BGMUT_260 alias FYB 413A BGMUT_260 commonName FYBO (patient 2) BGMUT_260 phenoCommon FY(a-b-) BGMUT_260 protEffect W138X BGMUT_261 alias FYA 414A BGMUT_261 commonName FYAO (patient 3) BGMUT_261 phenoCommon FY(a-b-) BGMUT_261 protEffect W138X BGMUT_263 commonName GYPC -2 BGMUT_263 phenoCommon Ge:-2,3,4 (Yus type) BGMUT_263 protEffect altered GPC BGMUT_264 commonName GYPC -2-3+4 BGMUT_264 phenoCommon Ge:-2,-2,4 (Gerbich type) BGMUT_264 protEffect altered GPC BGMUT_266 alias GYPC -2-3-4 BGMUT_266 commonName LN BGMUT_266 phenoCommon Ge:-2,-3,-4; (Leach LN type) BGMUT_266 protEffect W44L 45fs; 55X BGMUT_267 alias Webb; GYPC-5 BGMUT_267 commonName Wb BGMUT_267 phenoCommon Wb (Webb) BGMUT_267 protEffect N8S BGMUT_269 alias GYPC-7; GYPC 67T BGMUT_269 commonName Ana BGMUT_269 phenoCommon Ana BGMUT_269 protEffect A2S in GPD BGMUT_27 alias O02 intronic BGMUT_27 commonName O02 BGMUT_27 phenoCommon O BGMUT_27 protEffect none BGMUT_270 alias GYPC-8; GYPC 40T BGMUT_270 commonName Dha BGMUT_270 phenoCommon Dha (Duch) BGMUT_270 protEffect L14F BGMUT_272 commonName AQP3 delta 5, French, USA BGMUT_272 protEffect exon 5 skipped; fs BGMUT_274 alias FUT1 349T BGMUT_274 commonName Reunion Island BGMUT_274 phenoCommon Reunion BGMUT_274 protEffect H117Y BGMUT_275 alias FUT1 442T BGMUT_275 commonName h4 (Japan) BGMUT_275 phenoCommon para-Bombay BGMUT_275 protEffect D148Y BGMUT_276 alias FUT1 460C, 1042A BGMUT_276 commonName h5 (Japan) BGMUT_276 phenoCommon para-Bombay BGMUT_276 protEffect Y154H; E348K BGMUT_277 alias FUT1 460C BGMUT_277 commonName h5 (Taiwan) BGMUT_277 phenoCommon para-Bombay BGMUT_277 protEffect Y154H BGMUT_278 alias FUT1 461G BGMUT_278 commonName Europe 1 BGMUT_278 phenoCommon Bombay BGMUT_278 protEffect Y154C BGMUT_279 alias FUT1 462A BGMUT_279 commonName h6 (Japan) BGMUT_279 phenoCommon Bombay BGMUT_279 protEffect Y154X BGMUT_28 alias O03 exonic BGMUT_28 commonName O03 BGMUT_28 phenoCommon O BGMUT_28 protEffect P74S; R176G; G268R BGMUT_280 alias USA1 BGMUT_280 commonName FUT1 491A BGMUT_280 phenoCommon para-Bombay BGMUT_280 protEffect L164H BGMUT_281 alias FUT1 513C BGMUT_281 commonName Europe 2 BGMUT_281 phenoCommon Bombay BGMUT_281 protEffect W171C BGMUT_282 alias FUT1 522A BGMUT_282 commonName China BGMUT_282 phenoCommon para-Bombay BGMUT_282 protEffect F174L BGMUT_283 alias FUT1 547delAG BGMUT_283 commonName h1 (Taiwan) BGMUT_283 phenoCommon para-Bombay BGMUT_283 protEffect 182fs BGMUT_284 alias FUT1 658T BGMUT_284 commonName h3 (Taiwan) BGMUT_284 phenoCommon para-Bombay BGMUT_284 protEffect R220C BGMUT_285 alias FUT1 695A BGMUT_285 commonName h1 (Japan) BGMUT_285 phenoCommon Bombay BGMUT_285 protEffect W232X BGMUT_286 alias FUT1 721C BGMUT_286 commonName h3 (Japan) BGMUT_286 phenoCommon para-Bombay BGMUT_286 protEffect Y241H BGMUT_287 alias FUT1 725G BGMUT_287 commonName India BGMUT_287 phenoCommon Bombay BGMUT_287 protEffect L242R BGMUT_288 alias FUT1 776A BGMUT_288 commonName Europe 3 BGMUT_288 phenoCommon Bombay BGMUT_288 protEffect V259E BGMUT_289 alias FUT1 785A, 786A BGMUT_289 commonName Europe 4 BGMUT_289 phenoCommon Bombay BGMUT_289 protEffect S262K BGMUT_290 commonName FUT1 801C BGMUT_290 protEffect W267C BGMUT_291 commonName FUT1 801T BGMUT_291 protEffect W267C BGMUT_292 alias USA2 BGMUT_292 commonName FUT1 826T BGMUT_292 phenoCommon para-Bombay BGMUT_292 protEffect Q276X BGMUT_293 commonName FUT1 832A BGMUT_293 protEffect D278N BGMUT_294 alias FUT1 880delTT h2 BGMUT_294 commonName h2 (Taiwan) BGMUT_294 phenoCommon para-Bombay BGMUT_294 protEffect 294fs BGMUT_295 alias FUT1 522A BGMUT_295 commonName h6 (China) BGMUT_295 phenoCommon para-Bombay BGMUT_295 protEffect F174L BGMUT_296 alias FUT1 904 insAAC BGMUT_296 commonName h7 (Japan) BGMUT_296 phenoCommon para-Bombay BGMUT_296 protEffect H302-T303 insN BGMUT_297 alias FUT1 944T BGMUT_297 commonName Europe 5 BGMUT_297 phenoCommon Bombay BGMUT_297 protEffect A315V BGMUT_299 alias FUT1 990delG BGMUT_299 commonName h2 (Japan) BGMUT_299 phenoCommon para-Bombay BGMUT_299 protEffect 330fs BGMUT_30 commonName O04 BGMUT_30 phenoCommon O BGMUT_30 protEffect 88fs + truncation BGMUT_300 alias FUT1 1047C BGMUT_300 commonName Europe 6 BGMUT_300 phenoCommon Bombay BGMUT_300 protEffect W349C BGMUT_302 alias FUT2 428A BGMUT_302 commonName se2 (Reunion) BGMUT_302 phenoCommon non-secretor BGMUT_302 protEffect W143X; enzyme inactive BGMUT_303 alias FUT2 715del BGMUT_303 commonName Sec1 BGMUT_303 protEffect D238fs BGMUT_304 alias FUT2 357T BGMUT_304 commonName Se2 BGMUT_304 phenoCommon secretor BGMUT_304 protEffect no change BGMUT_308 alias FUT2 571T BGMUT_308 commonName se3 Japan, Philippines Polynesia, Taiwan BGMUT_308 phenoCommon non-secretor BGMUT_308 protEffect R191X BGMUT_309 alias FUT2 628T BGMUT_309 commonName se5 Japan BGMUT_309 phenoCommon non-secretor BGMUT_309 protEffect R210X BGMUT_31 commonName O05 BGMUT_31 phenoCommon O BGMUT_31 protEffect 88fs + truncation BGMUT_310 alias FUT2 658T BGMUT_310 commonName China BGMUT_310 phenoCommon non-secretor BGMUT_310 protEffect R220X BGMUT_311 alias FUT2 delGT BGMUT_311 commonName Taiwan BGMUT_311 phenoCommon non-secretor BGMUT_311 protEffect V230del BGMUT_312 alias FUT2 849A BGMUT_312 commonName se4 Philippines, Taiwan BGMUT_312 phenoCommon non-secretor BGMUT_312 protEffect W283X BGMUT_313 alias FUT2 40G BGMUT_313 commonName Se40 South Africa BGMUT_313 phenoCommon secretor BGMUT_313 protEffect I14V BGMUT_314 alias FUT2 481A BGMUT_314 commonName Se481 South Africa BGMUT_314 phenoCommon secretor BGMUT_314 protEffect D161N BGMUT_315 alias FUT2 40G, 481A BGMUT_315 commonName Se40, 481 South Africa BGMUT_315 phenoCommon secretor BGMUT_315 protEffect I14V; D161N BGMUT_316 alias FUT2 357T BGMUT_316 commonName Se357 Taiwan, new Quinea BGMUT_316 phenoCommon secretor BGMUT_316 protEffect no change BGMUT_317 alias FUT2 357T, 480T BGMUT_317 commonName Se357, 480 Africa new Guinea BGMUT_317 phenoCommon secretor BGMUT_317 protEffect no change BGMUT_318 alias FUT2 357T, 379T, 480T BGMUT_318 commonName Se South Africa BGMUT_318 phenoCommon secretor BGMUT_318 protEffect R127C BGMUT_319 alias FUT2 375G BGMUT_319 commonName Se375 South Africa BGMUT_319 phenoCommon secretor BGMUT_319 protEffect no change BGMUT_32 alias O06 exonic BGMUT_32 commonName O06 BGMUT_32 phenoCommon O BGMUT_32 protEffect 88fs + truncation BGMUT_320 alias FUT2 357T, 480T, 778delC BGMUT_320 commonName se 357, 480, 778 South Africa BGMUT_320 phenoCommon non-secretor BGMUT_320 protEffect 259fs 275X BGMUT_321 alias FUT2 385T BGMUT_321 commonName Se385 Polynesia, Taiwan (se2) BGMUT_321 phenoCommon weak secretor BGMUT_321 protEffect I129F BGMUT_322 alias FUT2 357T, 385T BGMUT_322 commonName se385 New Guinea BGMUT_322 protEffect I129F BGMUT_323 alias FUT2 400A BGMUT_323 commonName Se400 New Guinea BGMUT_323 protEffect V134I BGMUT_324 commonName se428 New Guinea BGMUT_324 protEffect W143X; G247S BGMUT_325 alias FUT2 357T, 571T BGMUT_325 commonName se571 New Guinea BGMUT_325 protEffect R191X BGMUT_326 alias FUT2 375G, 664T BGMUT_326 commonName se664 New Guinea BGMUT_326 phenoCommon non-secretor BGMUT_326 protEffect R222C BGMUT_327 alias FUT2 400A, 760A BGMUT_327 commonName se760 New Guinea BGMUT_327 phenoCommon non-secretor BGMUT_327 protEffect V134I; D254N BGMUT_328 alias FUT2 357T, 868A BGMUT_328 commonName se868 New Guinea BGMUT_328 phenoCommon non-secretor BGMUT_328 protEffect G290R BGMUT_329 alias FUT2 357T, 385T BGMUT_329 commonName sej Japan BGMUT_329 phenoCommon non-secretor BGMUT_329 protEffect I129F BGMUT_33 alias O06 intronic BGMUT_33 commonName O06 BGMUT_33 phenoCommon O BGMUT_33 protEffect none BGMUT_330 alias FUT2 688-690del BGMUT_330 commonName se7 BGMUT_330 phenoCommon non-secretor BGMUT_330 protEffect 230delV BGMUT_332 commonName GYPA N BGMUT_332 phenoCommon N BGMUT_332 protEffect S20L; G24E BGMUT_334 commonName GYPB S BGMUT_334 phenoCommon S BGMUT_334 protEffect T48M BGMUT_337 alias GYPA 78R BGMUT_337 commonName GYP Erik/Sta BGMUT_337 phenoCommon ERIK/Sta BGMUT_337 protEffect G78R + /- DTHKRDT YAATPRA HEVSEISV RTVYPPEEET27-78del (sequence encoded by exon 3 is not expressed) BGMUT_338 alias GYPA 84P BGMUT_338 commonName GYP HAG BGMUT_338 phenoCommon HAG BGMUT_338 protEffect A84P BGMUT_34 commonName O07 BGMUT_34 phenoCommon O BGMUT_34 protEffect 88fs + truncation BGMUT_35 commonName O08 BGMUT_35 phenoCommon O BGMUT_35 protEffect P156L; 268fs; also 354fs (residues 269-354 are altered) BGMUT_359 alias GYPB 161A BGMUT_359 commonName GYP Mit BGMUT_359 phenoCommon Mit BGMUT_359 protEffect R54H BGMUT_36 commonName O09 BGMUT_36 phenoCommon O BGMUT_36 protEffect 88fs + truncation BGMUT_361 alias GYPA 230T BGMUT_361 commonName GYPA Mta BGMUT_361 phenoCommon Mta BGMUT_361 protEffect T77I BGMUT_362 alias GYPB 65G BGMUT_362 commonName GYPB M(V) BGMUT_362 phenoCommon M(v) BGMUT_362 protEffect T22S BGMUT_363 alias GYPA 138A BGMUT_363 commonName GYPA Nya BGMUT_363 phenoCommon Nya BGMUT_363 protEffect D46E BGMUT_364 alias GYPA 217T BGMUT_364 commonName GYPA Osa BGMUT_364 phenoCommon Osa BGMUT_364 protEffect P73S BGMUT_365 alias GYPB 173G BGMUT_365 commonName GYPB s(D) BGMUT_365 phenoCommon s(D) BGMUT_365 protEffect P58R BGMUT_37 commonName O10 BGMUT_37 phenoCommon O BGMUT_37 protEffect 88fs + truncation BGMUT_373 alias GYPA 66Y BGMUT_373 commonName GYP Vr BGMUT_373 phenoCommon Vr BGMUT_373 protEffect S66Y BGMUT_375 commonName IGnTC 505A BGMUT_375 phenoCommon adult i in Caucasians; no cataract BGMUT_375 protEffect A169T BGMUT_376 commonName IGnTC 683A BGMUT_376 phenoCommon adult i in Caucasians; no cataract BGMUT_376 protEffect R228Q BGMUT_377 commonName IGnTC 816C BGMUT_377 phenoCommon common I and adult i (the latter with congenital cataract) BGMUT_377 protEffect E272D BGMUT_379 alias IGnT 1043A BGMUT_379 commonName IGnT A, B, C 1 BGMUT_379 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_379 protEffect G348E BGMUT_38 alias O11 exonic BGMUT_38 commonName O11 BGMUT_38 phenoCommon O BGMUT_38 protEffect 88fs + truncation BGMUT_380 alias IGnT 1148A BGMUT_380 commonName IGnT A, B, C 2 BGMUT_380 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_380 protEffect R383H BGMUT_382 commonName IGnTB 978A BGMUT_382 phenoCommon adult i in Arabs (four families); congenital cataract BGMUT_382 protEffect W326X BGMUT_383 alias CD44 137C, 207C, 255C, 326C, 716A BGMUT_383 commonName IN1 (In a) BGMUT_383 phenoCommon In a+ b- BGMUT_383 protEffect R46P; A69A; H85H; Y109S; G239E BGMUT_387 alias 838A BGMUT_387 commonName JKB BGMUT_387 phenoCommon Jk(a-b+) BGMUT_387 protEffect D280N BGMUT_388 alias Delta 6 BGMUT_388 commonName JKB(BS) BGMUT_388 phenoCommon Jk(a-b-) BGMUT_388 protEffect 114-156 del (exon 6) BGMUT_389 alias Delta 7 BGMUT_389 commonName JKB (LP) BGMUT_389 phenoCommon Jk(a-b-) BGMUT_389 protEffect 157-221 del (exon 7); fs + premature X BGMUT_39 alias O11 intronic BGMUT_39 commonName O11 BGMUT_39 phenoCommon O BGMUT_390 commonName JKB 871C BGMUT_390 phenoCommon Jk(a-b-) BGMUT_390 protEffect S291P BGMUT_391 commonName JKA (delta4, 5 + E*) BGMUT_391 phenoCommon Jk(a-b-) BGMUT_391 protEffect protein not expressed BGMUT_392 alias 582G BGMUT_392 commonName JKA Swiss BGMUT_392 phenoCommon Jk(a-b-) BGMUT_392 protEffect Y194X BGMUT_393 commonName JKA English BGMUT_393 phenoCommon Jk(a-b-) BGMUT_393 protEffect protein not expressed BGMUT_395 alias 578T BGMUT_395 commonName KEL1 1 BGMUT_395 phenoCommon K1 BGMUT_395 protEffect T193M BGMUT_396 alias 578G BGMUT_396 commonName KEL1 2 BGMUT_396 phenoCommon K1 BGMUT_396 protEffect T193R BGMUT_397 alias 577T; KEL 1-Ser193 BGMUT_397 commonName KEL1 3 BGMUT_397 phenoCommon K1; may also express K2 BGMUT_397 protEffect T193S BGMUT_398 alias 841T BGMUT_398 commonName KEL3 BGMUT_398 phenoCommon K3 BGMUT_398 protEffect R281W BGMUT_399 alias 842A BGMUT_399 commonName KEL21 BGMUT_399 phenoCommon K21 BGMUT_399 protEffect R281Q BGMUT_4 commonName A102 BGMUT_4 phenoCommon A1 BGMUT_4 protEffect P156L BGMUT_40 alias O12 exonic BGMUT_40 commonName O12 BGMUT_40 phenoCommon O BGMUT_40 protEffect 88fs + truncation BGMUT_400 alias KEL 1790C, 1899G BGMUT_400 commonName KEL6 BGMUT_400 phenoCommon K6; Jsa BGMUT_400 protEffect L597P, L633L BGMUT_401 alias 1481T BGMUT_401 commonName KEL10 BGMUT_401 phenoCommon K10 BGMUT_401 protEffect E494V BGMUT_402 alias 905C BGMUT_402 commonName KEL17 BGMUT_402 phenoCommon K17 BGMUT_402 protEffect V302A BGMUT_403 alias 1145G BGMUT_403 commonName KEL23 BGMUT_403 protEffect Q382R BGMUT_404 alias 539C BGMUT_404 commonName KEL23 BGMUT_404 phenoCommon K24 BGMUT_404 protEffect R180P BGMUT_405 alias KEL 1643G BGMUT_405 commonName KEL12 BGMUT_405 phenoCommon K12 BGMUT_405 protEffect H548R BGMUT_406 alias KEL 388T, 389A BGMUT_406 commonName KEL18 BGMUT_406 phenoCommon K18 BGMUT_406 protEffect R130W; R130Q BGMUT_407 alias KEL 1475A BGMUT_407 commonName KEL19 BGMUT_407 phenoCommon K19 BGMUT_407 protEffect R492Q BGMUT_408 alias KEL 965T BGMUT_408 commonName KEL22 BGMUT_408 phenoCommon K-22 BGMUT_408 protEffect A322V BGMUT_409 alias VLAN BGMUT_409 commonName KEL25 BGMUT_409 phenoCommon VLAN BGMUT_409 protEffect R248Q BGMUT_41 alias O12 intronic BGMUT_41 commonName O12 BGMUT_41 phenoCommon O BGMUT_41 protEffect none BGMUT_410 commonName KEL 742T BGMUT_410 protEffect R248W BGMUT_411 alias TOU BGMUT_411 commonName KEL26 BGMUT_411 phenoCommon K26 BGMUT_411 protEffect R406Q BGMUT_412 alias RAZ BGMUT_412 commonName KEL27 BGMUT_412 phenoCommon RAZ BGMUT_412 protEffect E249K BGMUT_413 alias KEL 1268T BGMUT_413 commonName KEL 20 BGMUT_413 phenoCommon K2 weak BGMUT_413 protEffect A423V BGMUT_415 alias KEL 1088A, 2030G BGMUT_415 commonName KEL mod-2 BGMUT_415 protEffect S363N; Y677C BGMUT_416 alias KEL 986C,1596A BGMUT_416 commonName KEL mod-3 BGMUT_416 protEffect L329P; W532X BGMUT_417 alias KEL 2107A, 1719T BGMUT_417 commonName KEL mod-4 BGMUT_417 protEffect G703R BGMUT_418 alias KEL intron3 1C BGMUT_418 commonName Ko BGMUT_418 phenoCommon Ko; Kell null BGMUT_418 protEffect Protein not expressed. BGMUT_419 alias KEL 382T BGMUT_419 commonName Ko (Michigan, North Carolina) BGMUT_419 phenoCommon Ko; Kell null BGMUT_419 protEffect R128X BGMUT_42 commonName O13 BGMUT_42 phenoCommon O BGMUT_42 protEffect 88fs + truncation BGMUT_420 alias KEL 246A BGMUT_420 commonName Ko (Yougoslavia) BGMUT_420 phenoCommon Ko; Kell null BGMUT_420 protEffect C82X BGMUT_421 alias KEL 1042T BGMUT_421 commonName Ko (Portugal) BGMUT_421 phenoCommon Ko; Kell null BGMUT_421 protEffect Q348X BGMUT_422 alias KEL 2027A BGMUT_422 commonName Ko (Israel) BGMUT_422 phenoCommon Ko; Kell null BGMUT_422 protEffect S676N BGMUT_423 alias KEL intron3 1A BGMUT_423 commonName Ko (Reunion island, Seattle) BGMUT_423 phenoCommon Ko; Kell null BGMUT_423 protEffect Protein not expressed. BGMUT_424 alias KEL 1088A BGMUT_424 commonName Ko (Seattle, New York) BGMUT_424 phenoCommon Ko; Kell null BGMUT_424 protEffect S363N BGMUT_425 alias KEL 574T,1088A BGMUT_425 commonName Ko (New York) BGMUT_425 phenoCommon Ko; Kell null BGMUT_425 protEffect R192X BGMUT_426 alias KEL 1377A BGMUT_426 commonName Ko (Japan 1) BGMUT_426 phenoCommon Ko; Kell null BGMUT_426 protEffect W459X BGMUT_427 alias KEL intron5 3'G BGMUT_427 commonName Ko (Japan2) BGMUT_427 phenoCommon Ko; Kell null BGMUT_427 protEffect fs + termination BGMUT_428 alias KEL 1420T BGMUT_428 commonName Ko (Sweden1) BGMUT_428 phenoCommon Ko; Kell null BGMUT_428 protEffect Q474X BGMUT_429 alias KEL 903delG BGMUT_429 commonName Ko (Sweden2) BGMUT_429 phenoCommon Ko; Kell null BGMUT_429 protEffect 301fs BGMUT_43 commonName O14 BGMUT_43 phenoCommon O BGMUT_43 protEffect P156L; A298V BGMUT_431 alias KN2; KNB BGMUT_431 commonName CR1 4681A BGMUT_431 phenoCommon Kn(b +) BGMUT_431 protEffect V1561M BGMUT_433 alias KN6; KN McCB BGMUT_433 commonName CR1 4768G BGMUT_433 phenoCommon McC(b +) BGMUT_433 protEffect K1590E BGMUT_435 alias KN VIL BGMUT_435 commonName CR1 4801G BGMUT_435 phenoCommon Vil + (Sl2) BGMUT_435 protEffect R1601G BGMUT_437 alias KN Sl3 BGMUT_437 commonName CR1 4828A BGMUT_437 phenoCommon Sl3; needs Sl2 for expression BGMUT_437 protEffect S1610T BGMUT_439 alias KN L BGMUT_439 commonName CR1 L BGMUT_439 protEffect T445A; I684T; Q1022H; H1208R; I1615V; P1827R BGMUT_44 commonName O15 BGMUT_44 phenoCommon O BGMUT_44 protEffect Y309X BGMUT_444 commonName CR1 180A BGMUT_444 protEffect none BGMUT_445 commonName CR1 954C BGMUT_445 protEffect none BGMUT_446 commonName CR1 1329G BGMUT_446 protEffect none BGMUT_447 commonName CR1 1333A BGMUT_447 protEffect A445T BGMUT_448 commonName CR1 2051C BGMUT_448 protEffect I684T BGMUT_449 commonName CR1 2340C BGMUT_449 protEffect none BGMUT_45 commonName O16 BGMUT_45 phenoCommon O BGMUT_45 protEffect 88fs + truncation BGMUT_450 commonName CR1 3066T BGMUT_450 protEffect Q1022H BGMUT_451 commonName CR1 3623G BGMUT_451 protEffect H1208R BGMUT_452 commonName CR 1 4014C BGMUT_452 protEffect none BGMUT_453 commonName CR1 4145C BGMUT_453 protEffect S1382T BGMUT_454 commonName CR1 4223T BGMUT_454 protEffect T1408I BGMUT_455 commonName CR1 4843G BGMUT_455 phenoCommon KAM+ BGMUT_455 protEffect I1615V BGMUT_456 commonName CR1 5397G BGMUT_456 protEffect I1799M BGMUT_457 commonName CR1 5480G BGMUT_457 protEffect P1827R BGMUT_458 commonName CR1 5548G BGMUT_458 protEffect H1850D BGMUT_459 commonName CR1 5627T BGMUT_459 protEffect T1876I BGMUT_46 commonName O17 BGMUT_46 phenoCommon O BGMUT_46 protEffect 88fs + truncation BGMUT_461 alias FUT3 47C, 508A BGMUT_461 commonName le 47, 508 Sri Lanka BGMUT_461 phenoCommon Lewis negative BGMUT_461 protEffect C16S; G170S BGMUT_462 alias FUT3 47C, 202C, 314T BGMUT_462 commonName le47, 202, 314 Sri Lanka BGMUT_462 phenoCommon Lewis negative BGMUT_462 protEffect C16S; W68R; T105M BGMUT_463 alias FUT3 59G, le3, le1 Indonesia (L1), Japan and Sweden (le3), Denmark (le1) BGMUT_463 commonName L1 BGMUT_463 phenoCommon red cell Lewis negative; saliva Lewis positive BGMUT_463 protEffect L20R VAR_022964 comment in LCA8 BGMUT_464 alias FUT3 1067A, le2 Indonesia(L2), Denmark (le2) BGMUT_464 commonName Le2 BGMUT_464 phenoCommon negative BGMUT_464 protEffect I356K BGMUT_465 alias FUT3 59G, 508A BGMUT_465 commonName le1, le4 Japan (le1), Denmark (le4) BGMUT_465 phenoCommon negative BGMUT_465 protEffect L20R; G170S BGMUT_466 alias FUT3 59G, 1067A BGMUT_466 commonName le2 Indonesia (le2), Japan (le3), Denmark BGMUT_466 phenoCommon negative BGMUT_466 protEffect L20R; I356K BGMUT_467 alias FUT3 202C, 314T BGMUT_467 commonName le5 Denmark and Sweden BGMUT_467 phenoCommon negative BGMUT_467 protEffect W68R; T105M BGMUT_468 alias FUT3 202C, 1067A BGMUT_468 commonName le6 Denmark BGMUT_468 phenoCommon negative BGMUT_468 protEffect W68R; I356K BGMUT_469 commonName le7 Denmark and Sweden BGMUT_469 phenoCommon negative BGMUT_469 protEffect L20R; L149M BGMUT_47 commonName O18 BGMUT_47 phenoCommon O BGMUT_47 protEffect 88fs + truncation BGMUT_470 alias FUT3 202C, 314T, 484A BGMUT_470 commonName le Caucasian (South Africa) BGMUT_470 phenoCommon negative BGMUT_470 protEffect W68R; T105M; D162N BGMUT_471 alias FUT3 484A, 667A BGMUT_471 commonName le1 Africa (Xhosa) BGMUT_471 phenoCommon negative BGMUT_471 protEffect D162N; G227R BGMUT_472 alias FUT3 484A, 667A, 808A BGMUT_472 commonName le2 Africa (Xhosa) BGMUT_472 phenoCommon negative BGMUT_472 protEffect D162N; G227R; V270M BGMUT_473 alias FUT3 760A BGMUT_473 commonName Indonesia BGMUT_473 phenoCommon negative BGMUT_473 protEffect D254N BGMUT_474 alias FUT3 304A BGMUT_474 commonName Le Caucasian (South Africa) BGMUT_474 phenoCommon positive BGMUT_474 protEffect Q102K BGMUT_475 alias FUT3 370G BGMUT_475 commonName Le Africa (Xhosa) BGMUT_475 phenoCommon positive BGMUT_475 protEffect S124A BGMUT_477 alias FUT6 370T, 730G, 907G BGMUT_477 commonName Jakarta, Indonesia 1 BGMUT_477 protEffect P124S; L244V; R303G BGMUT_478 alias FUT6 370T, 907G BGMUT_478 commonName Jakarta, Indonesia 2 BGMUT_478 protEffect P124S; R303G BGMUT_479 alias FUT6 370T, 739A BGMUT_479 commonName M1, M2 Jakarta, Indonesia, Sweden BGMUT_479 protEffect P124S; E247K BGMUT_48 commonName O19 BGMUT_48 phenoCommon O BGMUT_48 protEffect F216I; V277M BGMUT_480 alias FUT6 739A, 945A BGMUT_480 commonName M2, M4 Jakarta, Indonesia, Sweden BGMUT_480 protEffect E247K; Y315X BGMUT_482 alias FUT6 63A BGMUT_482 commonName A2 Xhosa, Africa BGMUT_482 protEffect L21L BGMUT_483 alias FUT6 63A, 172A, 376T BGMUT_483 commonName A3 Xhosa, Africa BGMUT_483 protEffect L21L; A58T; R126W BGMUT_484 alias FUT6 63A, 172A, 376T, 527T BGMUT_484 commonName A4 Xhosa, Africa BGMUT_484 protEffect L21L; A58T; R126W; G127V BGMUT_485 alias FUT6 729C BGMUT_485 commonName A5 Xhosa, Africa BGMUT_485 protEffect Y243Y BGMUT_486 alias FUT6 738T, 977A BGMUT_486 commonName A6 Japan, Europe, Xhosa, Africa BGMUT_486 protEffect F246F; R326Q BGMUT_487 alias FUT6 1002G BGMUT_487 commonName A7 Xhosa, Africa BGMUT_487 protEffect L334L BGMUT_488 alias FUT6 370T, 1002G BGMUT_488 commonName A8 Xhosa, Africa BGMUT_488 protEffect P124S; L334L BGMUT_489 alias FUT6 370T, 907G, 1002G BGMUT_489 commonName A9 Xhosa, Africa BGMUT_489 protEffect P124S; R303G; L334L BGMUT_49 commonName O20 BGMUT_49 phenoCommon O BGMUT_49 protEffect F216I; V277M VAR_007673 comment in OCA-I BGMUT_490 alias FUT6 879T, 971T, 1002G BGMUT_490 commonName A10 Xhosa, Africa BGMUT_490 protEffect D293D; T324M; L334L BGMUT_491 alias FUT6 855A, 1002G BGMUT_491 commonName A11 Japan, Europe, Xhosa, Africa BGMUT_491 protEffect P285P; L334L BGMUT_492 alias FUT6 370T, 739A, 1002G BGMUT_492 commonName B1 Xhosa, Africa BGMUT_492 protEffect P124S; E247K; L334L BGMUT_493 alias FUT6 370T, 739A, 945A, 1002G BGMUT_493 commonName B2 Xhosa, Africa BGMUT_493 protEffect P124S; E247K; Y315X BGMUT_494 alias FUT6 18A, 336A, 499insC, 855A, 1002G BGMUT_494 commonName B3 Xhosa, Africa BGMUT_494 protEffect P6P; V112V; 167fs BGMUT_495 alias FUT6 18A, 336A, 499insC, 855A, 977A, 1002G BGMUT_495 commonName B4 Xhosa, Africa BGMUT_495 protEffect P6P; V112V; 167fs BGMUT_497 commonName FUT7 329A BGMUT_497 protEffect R110E BGMUT_498 alias LU 230A BGMUT_498 commonName LUA, LU1 BGMUT_498 phenoCommon Lu(a + b-) or Lu(a + b +) BGMUT_498 protEffect R77H BGMUT_499 alias Lu 1615A BGMUT_499 commonName AUA, LU18 BGMUT_499 phenoCommon Au(a + b-) or Au(a + b +) BGMUT_499 protEffect A539T BGMUT_5 commonName A103 BGMUT_5 phenoCommon A1 BGMUT_5 protEffect P156L; none BGMUT_50 alias O21 exonic BGMUT_50 commonName O21 BGMUT_50 phenoCommon O BGMUT_50 protEffect fs + truncation BGMUT_502 alias LU 524A BGMUT_502 commonName LU--4 BGMUT_502 phenoCommon Lu-4 BGMUT_502 protEffect R175Q BGMUT_503 alias LU 326A BGMUT_503 commonName LU-5 BGMUT_503 phenoCommon Lu-5 BGMUT_503 protEffect R109H BGMUT_504 alias LU 824T BGMUT_504 commonName LU9 BGMUT_504 phenoCommon Lu9 BGMUT_504 protEffect S275F BGMUT_505 alias LU 1878T BGMUT_505 commonName LU-11 BGMUT_505 phenoCommon Lu-11 BGMUT_505 protEffect D626D BGMUT_506 alias LU 611A BGMUT_506 commonName LU14 BGMUT_506 phenoCommon Lu14 BGMUT_506 protEffect M204K BGMUT_507 alias LU 99-104del BGMUT_507 commonName LU-12 99del BGMUT_507 phenoCommon Lu-12 BGMUT_507 protEffect R34; L35del BGMUT_508 alias LU 419A BGMUT_508 commonName LU-12 419A BGMUT_508 phenoCommon Lu-12 BGMUT_508 protEffect R140Q BGMUT_509 commonName LU-13 BGMUT_509 phenoCommon Lu-13 BGMUT_509 protEffect S447L; Q581L BGMUT_51 alias O21 intronic BGMUT_51 commonName O21 BGMUT_51 phenoCommon O BGMUT_510 alias LU 679T BGMUT_510 commonName LU-16 BGMUT_510 phenoCommon Lu-16 BGMUT_510 protEffect R227C BGMUT_511 commonName LU-17 BGMUT_511 phenoCommon Lu-17 BGMUT_511 protEffect E114K BGMUT_512 alias LU 905T BGMUT_512 commonName LU-20 BGMUT_512 phenoCommon Lu-20 BGMUT_512 protEffect T302M BGMUT_513 alias LU 282G BGMUT_513 commonName LU-21 BGMUT_513 phenoCommon Lu-21 BGMUT_513 protEffect D94E BGMUT_514 commonName LU 711A BGMUT_514 phenoCommon Lu a-b- BGMUT_514 protEffect C237X BGMUT_516 alias LW 299G; LW7 BGMUT_516 commonName LWB BGMUT_516 phenoCommon LW(a-b+) or LW(a+b+) BGMUT_516 protEffect Q100R BGMUT_517 alias LW 346del BGMUT_517 commonName LW Big BGMUT_517 phenoCommon LW(a-b-) BGMUT_517 protEffect 116del; 118X BGMUT_519 alias BSG 370T BGMUT_519 commonName OK1 BGMUT_519 phenoCommon Ok(a +) BGMUT_519 protEffect none BGMUT_52 commonName O22 BGMUT_52 phenoCommon O BGMUT_52 protEffect 88fs + truncation BGMUT_520 alias BSG 274A BGMUT_520 commonName OK2 BGMUT_520 phenoCommon Ok(a-) BGMUT_520 protEffect E92K BGMUT_521 alias BSG 176T,195T,234G BGMUT_521 commonName OK (SM) BGMUT_521 phenoCommon Ok(a-) BGMUT_521 protEffect G59V BGMUT_522 alias BSG 327C BGMUT_522 commonName OK3 BGMUT_522 phenoCommon OK(a +) BGMUT_522 protEffect none BGMUT_524 alias p 68insT BGMUT_524 commonName A4GALT 68insT BGMUT_524 phenoCommon p BGMUT_524 protEffect L23fs; 53X BGMUT_525 alias p 237 delCTT BGMUT_525 commonName A4GALT 237 delCTT BGMUT_525 phenoCommon p BGMUT_525 protEffect F80del BGMUT_526 alias p 241 delTTC BGMUT_526 commonName A4GALT 241 delTTC BGMUT_526 phenoCommon p BGMUT_526 protEffect F81del BGMUT_527 alias p 287A BGMUT_527 commonName A4GALT 287A BGMUT_527 phenoCommon p BGMUT_527 protEffect C96Y BGMUT_528 alias p 109G; 290T BGMUT_528 commonName A4GALT 109G; 290T BGMUT_528 phenoCommon p BGMUT_528 protEffect S97L; M37V; T329T BGMUT_529 alias p 300delG BGMUT_529 commonName A4GALT 300delG BGMUT_529 phenoCommon p BGMUT_529 protEffect 101fs BGMUT_53 commonName O23 BGMUT_53 phenoCommon O BGMUT_53 protEffect 88fs + truncation BGMUT_530 alias p 470ins BGMUT_530 commonName A4GALT 470ins BGMUT_530 phenoCommon p BGMUT_530 protEffect 157fs BGMUT_531 alias p 473A BGMUT_531 commonName A4GALT 473A BGMUT_531 phenoCommon p BGMUT_531 protEffect W158X BGMUT_532 alias p 502insC, 914T BGMUT_532 commonName A4GALT 502insC, 914T BGMUT_532 phenoCommon p BGMUT_532 protEffect 167fs; 281X; P305P BGMUT_533 alias p 548A BGMUT_533 commonName A4GALT 548A BGMUT_533 phenoCommon p BGMUT_533 protEffect M183K BGMUT_534 alias p 548A, 987A BGMUT_534 commonName A4GALT 548A, 987A BGMUT_534 phenoCommon p BGMUT_534 protEffect M183K BGMUT_535 alias p 560A BGMUT_535 commonName A4GALT 560A BGMUT_535 phenoCommon p BGMUT_535 protEffect G187D BGMUT_536 alias p 656T BGMUT_536 commonName A4GALT 656T BGMUT_536 phenoCommon p BGMUT_536 protEffect A219V BGMUT_537 alias p 657delG BGMUT_537 commonName A4GALT 657delG BGMUT_537 phenoCommon p BGMUT_537 protEffect A219fs; 348X BGMUT_538 alias p 733insG, 903G BGMUT_538 commonName A4GALT 733insG, 903G BGMUT_538 phenoCommon p BGMUT_538 protEffect 245fs; P301P BGMUT_539 alias p 751T BGMUT_539 commonName A4GALT 751T BGMUT_539 phenoCommon p BGMUT_539 protEffect P251S BGMUT_54 commonName O24 BGMUT_54 phenoCommon O BGMUT_54 protEffect 88fs + truncation BGMUT_540 alias p 752T BGMUT_540 commonName A4GALT 752T BGMUT_540 phenoCommon p BGMUT_540 protEffect P251L BGMUT_541 alias p 752T, 903G BGMUT_541 commonName A4GALT 752T, 903G BGMUT_541 phenoCommon p BGMUT_541 protEffect P251L; P301P BGMUT_542 alias p 109G, 903G, 987A BGMUT_542 commonName A4GALT 109G, 903G, 987A BGMUT_542 phenoCommon p BGMUT_542 protEffect M37V; P301 P; T329T BGMUT_543 alias p 972-997del BGMUT_543 commonName A4GALT 972-997del BGMUT_543 phenoCommon p BGMUT_543 protEffect 331fs; extra 83 aa residues BGMUT_544 alias p 972-997del, 109G, 903G BGMUT_544 commonName A4GALT 972-997del, 109G, 903G BGMUT_544 phenoCommon p BGMUT_544 protEffect 331fs: extra 83 aa residues; M37V; P301P BGMUT_545 alias p 769delG, 903G BGMUT_545 commonName A4GALT 769delG, 903G BGMUT_545 phenoCommon p BGMUT_545 protEffect 256fs BGMUT_546 alias p 783A BGMUT_546 commonName A4GALT 783A BGMUT_546 phenoCommon p BGMUT_546 protEffect W261X BGMUT_547 alias p 902 delC BGMUT_547 commonName A4GALT 902 delC BGMUT_547 phenoCommon p BGMUT_547 protEffect 301fs; 349X BGMUT_548 alias p 1026insC BGMUT_548 commonName A4GALT 1026insC BGMUT_548 phenoCommon p BGMUT_548 protEffect 342fs BGMUT_549 alias P2 -550insC BGMUT_549 commonName A4GALT -550insC BGMUT_549 phenoCommon P2 BGMUT_549 protEffect none BGMUT_55 commonName O25 BGMUT_55 phenoCommon O BGMUT_55 protEffect 88fs + truncation BGMUT_550 alias P2 -160G BGMUT_550 commonName A4GALT -160G BGMUT_550 phenoCommon P2 BGMUT_550 protEffect none BGMUT_552 commonName B3GALT3 202T BGMUT_552 phenoCommon P2k BGMUT_552 protEffect 67X BGMUT_553 commonName B3GALT3 292-293insT BGMUT_553 phenoCommon P1k BGMUT_553 protEffect 97fs; 102X BGMUT_554 commonName B3GALT3 433T BGMUT_554 phenoCommon P1k BGMUT_554 protEffect R145X BGMUT_555 commonName B3GALT3 538insA BGMUT_555 phenoCommon P2k BGMUT_555 protEffect 180fs; 182X BGMUT_556 commonName B3GALT3 648C BGMUT_556 phenoCommon P1k BGMUT_556 protEffect R216S BGMUT_557 commonName B3GALT3 797C BGMUT_557 phenoCommon P2k BGMUT_557 protEffect E266A BGMUT_558 commonName B3GALT3 811A BGMUT_558 phenoCommon P1k BGMUT_558 protEffect G271R BGMUT_559 commonName B3GALT3 959A BGMUT_559 phenoCommon P1k BGMUT_559 protEffect W319X BGMUT_56 alias Ovar.tlse02; O26 exonic BGMUT_56 commonName O26 BGMUT_56 phenoCommon O BGMUT_56 protEffect 88fs + truncation BGMUT_563 alias RHD 1060A BGMUT_563 commonName RHD II BGMUT_563 phenoCommon DII BGMUT_563 protEffect A354N BGMUT_564 alias RHD 455C; 602G; 667G BGMUT_564 commonName RHD IIIa BGMUT_564 phenoCommon DIIIa BGMUT_564 protEffect N152T; T201R; F223V BGMUT_567 alias RHD 186T, 410T, 455C BGMUT_567 commonName RHD III type 4 BGMUT_567 phenoCommon DIII type4 BGMUT_567 protEffect L62F; A137V; N152T BGMUT_568 commonName RHD III type 5 BGMUT_568 phenoCommon DIII type5 BGMUT_568 protEffect L62F; A137V; N152T; T201R; F223V BGMUT_570 alias RHD (186T, 455C, 1048C) BGMUT_570 commonName RHD IVa BGMUT_570 phenoCommon DIVa BGMUT_570 protEffect L62F; N152T; D350H BGMUT_573 alias RHD 667G, 697C BGMUT_573 commonName RHD BGMUT_573 phenoCommon DVa BGMUT_573 protEffect F223V; E233Q BGMUT_575 commonName RHD Va 2 BGMUT_575 phenoCommon DVa BGMUT_575 protEffect F223V; E233Q; V238M; V425L BGMUT_576 alias RHD 697A BGMUT_576 commonName RHD Va 3 BGMUT_576 phenoCommon DVa BGMUT_576 protEffect E233Q BGMUT_58 commonName O27 BGMUT_58 phenoCommon O BGMUT_58 protEffect 88fs + truncation BGMUT_580 alias RHD 329C BGMUT_580 commonName RHD VII BGMUT_580 phenoCommon DVII BGMUT_580 protEffect L110P BGMUT_581 alias RHD 307C, 329C BGMUT_581 commonName RHD VII-like BGMUT_581 phenoCommon DVII-like BGMUT_581 protEffect S103P; L110P BGMUT_582 alias RHD 602G, 667G, 1025C BGMUT_582 commonName RHD DAR BGMUT_582 phenoCommon DAR BGMUT_582 protEffect T201R; F223V; I342T BGMUT_583 alias RHD 505C, 509G, 514T (RHD1-3 CE4 D5-10) BGMUT_583 commonName RHD DFR-1 BGMUT_583 phenoCommon DFR BGMUT_583 protEffect M169L; M170R; I172F BGMUT_587 alias RHD 848T BGMUT_587 commonName RHD DHMi BGMUT_587 phenoCommon DHMi BGMUT_587 protEffect T283I BGMUT_588 alias RHD 854A BGMUT_588 commonName RHD DIM BGMUT_588 phenoCommon DIM BGMUT_588 protEffect C285Y BGMUT_589 alias RHD 1057A BGMUT_589 commonName RHD DNU (DNB) BGMUT_589 phenoCommon DNU (DNB) BGMUT_589 protEffect G353R BGMUT_59 commonName O28 BGMUT_59 phenoCommon O BGMUT_59 protEffect 88fs + truncation BGMUT_590 alias RHD 497C BGMUT_590 commonName RHD DFW BGMUT_590 phenoCommon DFW BGMUT_590 protEffect H166P BGMUT_591 alias RHD 1063A BGMUT_591 commonName RHD DNB BGMUT_591 phenoCommon DNB BGMUT_591 protEffect G355S BGMUT_592 alias RHD 621C BGMUT_592 commonName RHD DMA BGMUT_592 phenoCommon DMA BGMUT_592 protEffect L207F BGMUT_593 alias RHD 1073T BGMUT_593 commonName RHD DWI BGMUT_593 phenoCommon DWI BGMUT_593 protEffect M358T BGMUT_594 alias RHD 680C BGMUT_594 commonName RHD DBA BGMUT_594 phenoCommon DBA BGMUT_594 protEffect L227P BGMUT_595 alias RHD 851T BGMUT_595 commonName RHD DLO BGMUT_595 phenoCommon DLO BGMUT_595 protEffect S284L BGMUT_596 commonName RHD 384C BGMUT_596 protEffect no change BGMUT_598 alias RHD 8G BGMUT_598 commonName RHD weak D type 3 BGMUT_598 phenoCommon weak D(Du) type 3 BGMUT_598 protEffect S3C BGMUT_599 alias RHD 29A BGMUT_599 commonName RHD weak D(Du) type 6 BGMUT_599 phenoCommon weak D(Du) type 6 BGMUT_599 protEffect R10Q BGMUT_6 commonName A104 BGMUT_6 phenoCommon A1 BGMUT_6 protEffect T99T BGMUT_60 commonName O29 BGMUT_60 phenoCommon O BGMUT_60 protEffect 88fs + truncation BGMUT_600 alias RHD 446A BGMUT_600 commonName RHD weak D(Du) type 5 BGMUT_600 phenoCommon weak D(Du) type5 BGMUT_600 protEffect A149D BGMUT_601 alias RHD 658C BGMUT_601 commonName RHD weak D type 16 BGMUT_601 phenoCommon weak D(Du) type16 BGMUT_601 protEffect W220R BGMUT_602 alias RHD 809G BGMUT_602 commonName RHD weak D type 1 BGMUT_602 phenoCommon weak D(Du) type 1 BGMUT_602 protEffect V270G BGMUT_603 alias RHD 826C BGMUT_603 commonName RHD weak D type 13 BGMUT_603 phenoCommon weak D(Du) type 13 BGMUT_603 protEffect A276P BGMUT_604 alias RHD 830A BGMUT_604 commonName RHD weak D type 12 BGMUT_604 phenoCommon weak D(Du) type 12 BGMUT_604 protEffect G277E BGMUT_605 alias RHD 845A BGMUT_605 commonName RHD weak D type 15 BGMUT_605 phenoCommon weak D(Du) type 15 BGMUT_605 protEffect G282D BGMUT_606 alias RHD 880C BGMUT_606 commonName RHD weak D(Du) type 9 BGMUT_606 phenoCommon weak D(Du) type 9 BGMUT_606 protEffect A294P BGMUT_607 alias RHD 885 BGMUT_607 commonName RHD weak D type 11 BGMUT_607 phenoCommon weak D(Du) type 11 BGMUT_607 protEffect M295I BGMUT_608 alias RHD 919A BGMUT_608 commonName RHD weak D(Du) type 8 BGMUT_608 phenoCommon weak D(Du) type 8 BGMUT_608 protEffect G307R BGMUT_609 alias RHD 1016A BGMUT_609 commonName RHD weak D(Du) type 7 BGMUT_609 phenoCommon weak D(Du) type 7 BGMUT_609 protEffect G339E BGMUT_61 commonName O30 BGMUT_61 phenoCommon O BGMUT_61 protEffect 88fs + truncation BGMUT_610 alias RHD 1154A BGMUT_610 commonName RHD weak D type 2 BGMUT_610 phenoCommon weak D(Du) type 2 BGMUT_610 protEffect G385A BGMUT_611 alias RHD 1177C BGMUT_611 commonName RHD weak D type 10 BGMUT_611 phenoCommon weak D(Du) type 10 BGMUT_611 protEffect W393R BGMUT_612 alias RHD 602G, 667G BGMUT_612 commonName RHD weak D type 4 a BGMUT_612 phenoCommon weak D(Du) type 4 BGMUT_612 protEffect T201R; F223V BGMUT_613 commonName RHD weak D type 4 b BGMUT_613 phenoCommon weak D(Du) type 4 BGMUT_613 protEffect T201R; F223V BGMUT_614 commonName RHD weak D type 4. 1 BGMUT_614 phenoCommon weak D(Du) type 4. 1 BGMUT_614 protEffect W16C; T201R; F223V BGMUT_615 commonName RHD weak D type 4. 21 BGMUT_615 phenoCommon weak D(Du) type 4. 21 BGMUT_615 protEffect T201R; F223V; I342T BGMUT_616 commonName RHD weak D(Du) type 4. 22 BGMUT_616 phenoCommon weak D(Du) type 4. 22 BGMUT_616 protEffect T201R; F223V; I342T BGMUT_617 alias RHD 340T BGMUT_617 commonName RHD weak D type 17 BGMUT_617 phenoCommon weak D(Du) type 17 BGMUT_617 protEffect R114W BGMUT_618 commonName RHD weak D type 29 BGMUT_618 phenoCommon weak D(Du) type 29 BGMUT_618 protEffect I60L; S68N; K198N; F223V; I342T BGMUT_619 commonName RHD weak D type 14 BGMUT_619 phenoCommon weak D(Du) type 14 BGMUT_619 protEffect S182T; K198N; T201R BGMUT_62 commonName O31 BGMUT_62 phenoCommon O BGMUT_62 protEffect 88fs + truncation BGMUT_620 alias RHD 634T BGMUT_620 commonName RHD weak D type 23 BGMUT_620 phenoCommon weak D type 23 BGMUT_620 protEffect G212C BGMUT_621 alias RHD 1013C BGMUT_621 commonName RHD weak D type 24 BGMUT_621 phenoCommon weak D type 24 BGMUT_621 protEffect L338P BGMUT_622 alias RHD 26A BGMUT_622 commonName RHD weak D type 26 BGMUT_622 phenoCommon weakD type 26 BGMUT_622 protEffect V9D BGMUT_623 alias RHD 399T BGMUT_623 commonName RHD weak D type 37 BGMUT_623 phenoCommon weak D type 37 BGMUT_623 protEffect K133N BGMUT_624 alias RHD 833A BGMUT_624 commonName RHD weak D type 38 BGMUT_624 phenoCommon weak D type 38 BGMUT_624 protEffect G278E BGMUT_625 alias RHD 1015A BGMUT_625 commonName RHD weak D type 39 BGMUT_625 phenoCommon weak D type 39 BGMUT_625 protEffect G339R BGMUT_626 alias RHD 520A BGMUT_626 commonName RHD weak D type33 (Taiwan1) BGMUT_626 phenoCommon weak D Taiwan 1 BGMUT_626 protEffect V174M BGMUT_627 alias RHD 809A BGMUT_627 commonName RHD weak D type Taiwan2 BGMUT_627 phenoCommon weak D Taiwan 2 BGMUT_627 protEffect V270M BGMUT_628 alias RHD 1136T BGMUT_628 commonName RHD DAU-0 BGMUT_628 phenoCommon DAU-0 (European) BGMUT_628 protEffect T379M BGMUT_629 alias RHD 579A, 1136T BGMUT_629 commonName RHD DAU-0. 1 BGMUT_629 phenoCommon DAU-0. 1(African) BGMUT_629 protEffect T379M BGMUT_63 commonName O32 BGMUT_63 phenoCommon O BGMUT_63 protEffect 88fs + truncation BGMUT_630 alias RHD 689T, 1136T BGMUT_630 commonName RHD DAU-1 BGMUT_630 phenoCommon DAU-1 (African) BGMUT_630 protEffect S230I; T379M BGMUT_631 alias RHD 209A, 998A, 1136T BGMUT_631 commonName RHD DAU-2 BGMUT_631 phenoCommon DAU-2 (African) BGMUT_631 protEffect R70Q; S333N; T379M BGMUT_632 alias RHD 835A, 1136T BGMUT_632 commonName RHD DAU-3 BGMUT_632 phenoCommon DAU-3 (African) BGMUT_632 protEffect V279M; T379M BGMUT_633 alias RHD 697A, 1136T BGMUT_633 commonName RHD DAU- 4 BGMUT_633 phenoCommon DAU-4 (African) BGMUT_633 protEffect E233K; T379M BGMUT_637 alias RHD 121T BGMUT_637 commonName RHD neg2 BGMUT_637 phenoCommon D negative BGMUT_637 protEffect Q41X BGMUT_639 alias RHD 600delG BGMUT_639 commonName RHD neg4 BGMUT_639 phenoCommon D negative BGMUT_639 protEffect 228X BGMUT_64 commonName O33 BGMUT_64 phenoCommon O BGMUT_64 protEffect 88fs + truncation BGMUT_645 alias RHD 47A BGMUT_645 commonName RHD neg(Cde)3 BGMUT_645 phenoCommon D negative (Cde) BGMUT_645 protEffect W16X BGMUT_646 alias RHD 635T BGMUT_646 commonName RHD neg(Cde)4 BGMUT_646 phenoCommon D negative (Cde) BGMUT_646 protEffect G212V BGMUT_647 alias RHD intron 8 1A BGMUT_647 commonName RHD neg(Cde)5 BGMUT_647 phenoCommon D negative (Cde) BGMUT_648 alias RHD 269A BGMUT_648 commonName RHD neg6 BGMUT_648 phenoCommon D negative BGMUT_648 protEffect W90X BGMUT_65 commonName O34 BGMUT_65 phenoCommon O BGMUT_65 protEffect 88fs + truncation BGMUT_650 alias RHD 906ins BGMUT_650 commonName RHD neg8 BGMUT_650 phenoCommon D negative BGMUT_650 protEffect fs BGMUT_651 alias RHD 933A BGMUT_651 commonName RHD neg9 BGMUT_651 phenoCommon D neg BGMUT_651 protEffect 311X BGMUT_652 alias RHD intron 2 1A BGMUT_652 commonName RHD neg10 BGMUT_652 phenoCommon D neg BGMUT_652 protEffect exon2 is absent BGMUT_653 alias RHD 554A BGMUT_653 commonName RHD neg11 BGMUT_653 phenoCommon D neg BGMUT_653 protEffect W185X BGMUT_657 alias RHD 1222C BGMUT_657 commonName RHD DEL BGMUT_657 phenoCommon D-el BGMUT_657 protEffect W408R BGMUT_658 alias RHD intron 3 1A BGMUT_658 commonName RHD DEL (Cde)1 BGMUT_658 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_658 protEffect none BGMUT_659 alias RHD 885T BGMUT_659 commonName RHD DEL (Cde)2 BGMUT_659 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_659 protEffect M295I BGMUT_66 alias Ovar1 BGMUT_66 commonName O35 BGMUT_66 phenoCommon O BGMUT_66 protEffect V36F R63H P74S 88fs + truncation BGMUT_660 alias RHD intron 9 1A; 1227A BGMUT_660 commonName RHD DEL (Cde)3 BGMUT_660 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_660 protEffect K409K BGMUT_661 alias RHD intron 5 38del CTCT BGMUT_661 commonName RHD DEL (Cde)4 BGMUT_661 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_661 protEffect none BGMUT_662 alias RHD 1252insT BGMUT_662 commonName RHD DEL (Cde)5 BGMUT_662 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_662 protEffect X418L BGMUT_663 alias RHD 1203A BGMUT_663 commonName RHD DEL (Cde)6 BGMUT_663 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_663 protEffect Y401X BGMUT_668 alias RHCE 500A BGMUT_668 commonName RHCE EI,Ew BGMUT_668 phenoCommon EI;Ew BGMUT_668 protEffect M167K BGMUT_67 alias Ovar2 BGMUT_67 commonName O36 BGMUT_67 phenoCommon O BGMUT_67 protEffect V36F R63H P74S 88fs + truncation BGMUT_671 alias RHcE 697G, 712G BGMUT_671 commonName RHCE EIII BGMUT_671 phenoCommon EIII BGMUT_671 protEffect Q233E; M238V BGMUT_673 alias RHCE 733G BGMUT_673 commonName RHCE VS BGMUT_673 phenoCommon VS BGMUT_673 protEffect L245V BGMUT_674 alias RHCE 106A BGMUT_674 commonName RHCE CX BGMUT_674 phenoCommon CX BGMUT_674 protEffect A36T BGMUT_675 alias RHcE 602C BGMUT_675 commonName RHCE EIV BGMUT_675 phenoCommon EIV BGMUT_675 protEffect R201T BGMUT_676 alias RHCE 461C BGMUT_676 commonName RHCE EV/EKH; also RHCE ceRT BGMUT_676 phenoCommon EV/EKH; also ceRT, expresses D epitope 6 BGMUT_676 protEffect R154T BGMUT_677 alias RHCE122G BGMUT_677 commonName RHCE CW BGMUT_677 phenoCommon CW BGMUT_677 protEffect Q41R BGMUT_678 alias RHce 286A BGMUT_678 commonName RHCE Rh-26 BGMUT_678 phenoCommon ce variant c+Rh:-26 BGMUT_678 protEffect G96S BGMUT_68 commonName O39 BGMUT_68 phenoCommon O BGMUT_68 protEffect P74S; 88fs + truncation BGMUT_680 alias RHce 48C, 712G, 733G, 787G, 800A, 916G BGMUT_680 commonName RHce ceAR BGMUT_680 phenoCommon ceAR BGMUT_680 protEffect W16C; M239V; L245V; R263G; M267K; I306V BGMUT_681 alias Rhce 48C, 667T BGMUT_681 commonName Rhce ceMO BGMUT_681 phenoCommon ceMO (hrS-neg; altered expression of e) BGMUT_681 protEffect W16C; V223F BGMUT_69 commonName O40 BGMUT_69 phenoCommon O BGMUT_69 protEffect V36F; R63H; 88fs + truncation BGMUT_691 alias RHCE 685-687del BGMUT_691 commonName RHCE Dc-ceBP BGMUT_691 phenoCommon Dc-ceBP BGMUT_691 protEffect R229del BGMUT_696 alias RHcE 350-358del BGMUT_696 commonName RHCE-cEMI BGMUT_696 phenoCommon cEMI (silent RHE) BGMUT_696 protEffect A120-S122del BGMUT_698 alias RHCE intron 4: 1T BGMUT_698 commonName RHCE null amorph 2 BGMUT_698 phenoCommon Rh null amorph BGMUT_699 alias RHce 80-84del BGMUT_699 commonName RHCE null amorph 3 BGMUT_699 phenoCommon Rh null amorph BGMUT_699 protEffect L31X BGMUT_7 commonName A105 BGMUT_7 phenoCommon A1 BGMUT_7 protEffect P156L BGMUT_70 alias O1-vB, tlse13 BGMUT_70 commonName O41 BGMUT_70 phenoCommon O BGMUT_70 protEffect 88fs + truncation BGMUT_702 alias RHAG 236A BGMUT_702 commonName RH mod (VL) BGMUT_702 phenoCommon Rh mod (VL) BGMUT_702 protEffect S79N BGMUT_703 alias RHAG 3T BGMUT_703 commonName RH mod (SM) BGMUT_703 phenoCommon Rh mod (SM) BGMUT_703 protEffect M1I BGMUT_704 alias RHAG 1183delA BGMUT_704 commonName RH mod (Japan) BGMUT_704 phenoCommon Rh mod (Japanese) BGMUT_704 protEffect N395fs BGMUT_705 alias RHAG 836A BGMUT_705 commonName RH null reg (YT) BGMUT_705 phenoCommon Rh null (YT) reg BGMUT_705 protEffect G279E BGMUT_706 alias RHAG 808A, 838A BGMUT_706 commonName RH null reg (HT) BGMUT_706 phenoCommon Rh null (HT) reg BGMUT_706 protEffect V270I; G280R BGMUT_707 commonName RH null reg (AC) BGMUT_707 phenoCommon Rh null (AC) reg BGMUT_707 protEffect Exon 7 skipped. BGMUT_709 commonName RH null reg (AL) BGMUT_709 phenoCommon Rh null (AL) reg BGMUT_709 protEffect protein not expressed BGMUT_71 alias O1-vB, tlse14 BGMUT_71 commonName O42 BGMUT_71 phenoCommon O BGMUT_71 protEffect 88fs + truncation BGMUT_710 alias RHAG intron 7 1A BGMUT_710 commonName RH null reg (TT) BGMUT_710 phenoCommon Rh null (TT) reg BGMUT_711 alias RHAG 1139T BGMUT_711 commonName RH null reg (WO) BGMUT_711 phenoCommon Rh null (WO) reg BGMUT_711 protEffect G380V BGMUT_712 commonName RhCe polypeptide; Rh30 BGMUT_712 phenoCommon RhCe BGMUT_712 protEffect W16C; L60I; N68S; P103S BGMUT_713 commonName RhCE polypeptide; Rh30 BGMUT_713 phenoCommon RhCE BGMUT_713 protEffect W16C; L60I; N68S; P103S; A226P BGMUT_714 alias RHcE 676C BGMUT_714 commonName RhcE polypeptide; Rh30 BGMUT_714 phenoCommon RhcE BGMUT_714 protEffect A226P BGMUT_72 alias Ov7.1 BGMUT_72 commonName O43 BGMUT_72 phenoCommon O BGMUT_72 protEffect 88fs + truncation BGMUT_724 alias XK intron 2 5A BGMUT_724 commonName XK (MD) BGMUT_724 phenoCommon McLeod syndrome BGMUT_724 protEffect none BGMUT_725 alias XK 268del BGMUT_725 commonName XK (L) BGMUT_725 phenoCommon McLeod syndrome BGMUT_725 protEffect Y90fs BGMUT_726 alias XK intron 1 1C BGMUT_726 commonName XK (non-CGD) BGMUT_726 phenoCommon McLeod syndrome BGMUT_726 protEffect no protein (on membrane) BGMUT_73 alias Ov7.2 BGMUT_73 commonName O44 BGMUT_73 phenoCommon O BGMUT_73 protEffect 88fs + truncation BGMUT_735 alias XK 686del BGMUT_735 commonName XK 1 BGMUT_735 phenoCommon McLeod syndrome BGMUT_735 protEffect 229fs + 264X BGMUT_736 alias XK 771del BGMUT_736 commonName XK 2 BGMUT_736 phenoCommon McLeod syndrome BGMUT_736 protEffect 257fs + 267X BGMUT_737 alias XK 856del BGMUT_737 commonName XK 3 BGMUT_737 phenoCommon McLeod syndrome BGMUT_737 protEffect 286fs + 301X BGMUT_738 alias XK 938del BGMUT_738 commonName XK 4 BGMUT_738 phenoCommon McLeod syndrome BGMUT_738 protEffect 313fs + 336X BGMUT_74 alias Ovar, tlse51 BGMUT_74 commonName O45 BGMUT_74 phenoCommon O BGMUT_74 protEffect 88fs + truncation BGMUT_740 alias XK 1013delT BGMUT_740 commonName XK (Japan 1) BGMUT_740 phenoCommon McLeod syndrome BGMUT_740 protEffect fs + 408X BGMUT_742 alias XK intron 1 1C BGMUT_742 commonName XK (New Mexico; Ohio) BGMUT_742 phenoCommon McLeod syndrome BGMUT_743 alias XK 107A BGMUT_743 commonName XK 6 BGMUT_743 phenoCommon McLeod syndrome BGMUT_743 protEffect W36X BGMUT_744 alias XK 397T BGMUT_744 commonName XK 7 BGMUT_744 phenoCommon McLeod syndrome BGMUT_744 protEffect R133X BGMUT_745 alias XK 155X BGMUT_745 commonName XK 8 BGMUT_745 phenoCommon McLeod syndrome BGMUT_745 protEffect Q155X BGMUT_746 alias XK 236X BGMUT_746 commonName XK 9 BGMUT_746 phenoCommon McLeod syndrome BGMUT_746 protEffect W236X BGMUT_747 alias XK 880C BGMUT_747 commonName XK 10 BGMUT_747 phenoCommon McLeod syndrome BGMUT_747 protEffect C294R BGMUT_748 alias XK 895T BGMUT_748 commonName XK (Switzerland 1) BGMUT_748 phenoCommon McLeod syndrome BGMUT_748 protEffect Q299X BGMUT_749 alias XK 664G BGMUT_749 commonName XK (NYC) BGMUT_749 phenoCommon McLeod syndrome BGMUT_749 protEffect R222G BGMUT_75 alias Ovar, tlse52 BGMUT_75 commonName O46 BGMUT_75 phenoCommon O BGMUT_75 protEffect 88fs + truncation BGMUT_750 alias XK 11 BGMUT_750 commonName XK 11 BGMUT_750 phenoCommon McLeod syndrome BGMUT_750 protEffect W314X BGMUT_751 alias XK 979A BGMUT_751 commonName XK (Switzerland 2) BGMUT_751 phenoCommon McLeod BGMUT_751 protEffect E327K BGMUT_752 alias XK 39del BGMUT_752 commonName XK (Brazil) BGMUT_752 phenoCommon McLeod syndrome BGMUT_752 protEffect no protein BGMUT_754 alias Sc 169A BGMUT_754 commonName Sc -2 BGMUT_754 phenoCommon Sc: -1, 2 BGMUT_754 protEffect G57R BGMUT_755 commonName Sc null 1 BGMUT_755 phenoCommon Sc: -1, -2 BGMUT_755 protEffect none; H26Y; 113fs BGMUT_756 alias Rd 178G BGMUT_756 commonName Sc4 BGMUT_756 phenoCommon Rd + BGMUT_756 protEffect P60A BGMUT_757 alias Star; Sc 139A BGMUT_757 commonName Sc -5 BGMUT_757 phenoCommon Sc: 1, -2, 3 BGMUT_757 protEffect E47K BGMUT_759 alias MER 383ins BGMUT_759 commonName MER2 1 BGMUT_759 phenoCommon Mer2 negative with renal failure BGMUT_759 protEffect K127fs + 140X BGMUT_76 alias Ovar, tlse20 BGMUT_76 commonName O47 BGMUT_76 phenoCommon O BGMUT_76 protEffect 88fs + truncation BGMUT_760 alias MER2 533A BGMUT_760 commonName MER2 2 BGMUT_760 phenoCommon Mer2 negative and healthy BGMUT_760 protEffect R178H BGMUT_762 alias O01bantu BGMUT_762 commonName O54 BGMUT_762 phenoCommon O (associated with bantu phenotype) BGMUT_762 protEffect 88fs + truncation BGMUT_764 commonName A bantu 01 BGMUT_764 phenoCommon A bantu BGMUT_764 protEffect exon 4 del; P156L; 354fs + 21 aa BGMUT_765 alias FUT1 293T BGMUT_765 commonName China BGMUT_765 phenoCommon para-Bombay BGMUT_765 protEffect T98M BGMUT_766 commonName A304 BGMUT_766 phenoCommon A3 BGMUT_766 protEffect P156L; R180H; 354fs + 21aa BGMUT_77 alias O2-2 BGMUT_77 commonName O48 BGMUT_77 phenoCommon O BGMUT_77 protEffect P74S; R176G; R217C; G229D; G268R; BGMUT_771 commonName A208 BGMUT_771 phenoCommon A2 BGMUT_771 protEffect P156L; R180P BGMUT_772 commonName FUT1 682G BGMUT_772 phenoCommon para-Bombay BGMUT_772 protEffect M228V BGMUT_773 alias RHD 636T BGMUT_773 commonName RHD DUC-1 BGMUT_773 phenoCommon DUC-1; CcDee BGMUT_773 protEffect G212G BGMUT_774 alias RHD 667D, 697C, 1136T BGMUT_774 commonName RHD DAU-5 BGMUT_774 phenoCommon DAU-5; ccDee BGMUT_774 protEffect F223V; E233Q; T379M BGMUT_775 alias RHD 700T BGMUT_775 commonName RHD DQC or DYU BGMUT_775 phenoCommon DQC; ccDee BGMUT_775 protEffect R234W BGMUT_776 alias RHD 733C BGMUT_776 commonName RHD DUC-2 BGMUT_776 phenoCommon DUC-2; ccDEe BGMUT_776 protEffect V245L BGMUT_777 alias RH53; RHCE 365T BGMUT_777 commonName RHCE JAHK; also RHCE ceSL 1 BGMUT_777 phenoCommon JAHK antigen; associated with rG (d(C)(E)) haplotype;RHCE ceSL does not express JAHK, atypical serology BGMUT_777 protEffect S122L BGMUT_778 alias Avar BGMUT_778 commonName Aw10 BGMUT_778 phenoCommon Aw BGMUT_778 protEffect D262N BGMUT_779 alias RHD 998A, 1136T BGMUT_779 commonName RHD DAU-6 BGMUT_779 phenoCommon DAU (similar to DAU-2) BGMUT_779 protEffect S333N; T379M BGMUT_78 alias O2-3 BGMUT_78 commonName O49 BGMUT_78 phenoCommon O BGMUT_78 protEffect P74S; R176G; G229D; G268R; BGMUT_781 alias RHD 667G, 674T BGMUT_781 commonName RHD DTO BGMUT_781 phenoCommon weakD (similar to weak D type4 + RHD pseudo) BGMUT_781 protEffect F223V; S225F BGMUT_782 alias RHD 1226T BGMUT_782 commonName RHD weak D type 42 BGMUT_782 phenoCommon weak D (similar to weak D type 22) BGMUT_782 protEffect K409M BGMUT_783 alias 52G; 809G BGMUT_783 commonName RHD weak D type 1.1 BGMUT_783 phenoCommon very weak D; mistyped as D- or weak D type1 BGMUT_783 protEffect L18V; V270G BGMUT_784 alias 17T BGMUT_784 commonName RHD weak D type 31 BGMUT_784 phenoCommon very weak D BGMUT_784 protEffect P6L BGMUT_785 alias 1121A BGMUT_785 commonName RHD weak D type 32 BGMUT_785 phenoCommon very weak D BGMUT_785 protEffect I134N BGMUT_786 commonName Ael06 BGMUT_786 phenoCommon A weak BGMUT_786 protEffect M142T, P156L BGMUT_79 alias O2-4 BGMUT_79 commonName O50 BGMUT_79 phenoCommon O BGMUT_79 protEffect P74S; T163M; R176G; G268R; BGMUT_790 commonName C1GALT1C1 202T, 393A BGMUT_790 phenoCommon Tn syndrome BGMUT_790 protEffect R68X BGMUT_791 commonName C1GALT1C1 454A BGMUT_791 phenoCommon Tn syndrome BGMUT_791 protEffect E152K BGMUT_792 commonName C1GALT1C1 393A BGMUT_792 phenoCommon Encoded protein retains C1GALT1 chaperone activity leading to the absence of Tn syndrome BGMUT_792 protEffect D131E BGMUT_794 commonName B(A)04 BGMUT_794 phenoCommon Aweak B BGMUT_794 protEffect R176G; M214V; G235S; L266M; G268A; BGMUT_795 commonName B(A)05 BGMUT_795 phenoCommon Aweak B BGMUT_795 protEffect R176G; M214T; G235S; L266M; G268A; BGMUT_797 commonName Ax09 BGMUT_797 phenoCommon Ax BGMUT_797 protEffect P156L; W181C BGMUT_798 commonName A4GALT -550insC; -160G; 987A; 1697A BGMUT_798 phenoCommon P1; P2 BGMUT_798 protEffect none BGMUT_799 commonName A4GALT 109G; 987A BGMUT_799 phenoCommon P1 (observed so far) BGMUT_799 protEffect M37V BGMUT_8 commonName A106 BGMUT_8 phenoCommon A1 BGMUT_8 protEffect none; P156L BGMUT_80 alias O4 BGMUT_80 commonName O51 BGMUT_80 phenoCommon O BGMUT_80 protEffect 29fs BGMUT_800 commonName A4GALT 109G; 987A; 1697A BGMUT_800 phenoCommon P1 (observed so far) BGMUT_800 protEffect M37V BGMUT_801 commonName FUT2 357T, 716A BGMUT_801 phenoCommon Secretor BGMUT_801 protEffect R239Q BGMUT_802 commonName FUT1 328A BGMUT_802 phenoCommon para-Bombay BGMUT_802 protEffect A110T BGMUT_803 commonName FUT1 586T BGMUT_803 phenoCommon para-Bombay BGMUT_803 protEffect 196 Q>X BGMUT_805 commonName FUT1 35T BGMUT_805 phenoCommon none BGMUT_805 protEffect A12V BGMUT_806 alias Sc 54T, 76T, 103A BGMUT_806 commonName Sc -7 (SCAN 54T,76T,103A) BGMUT_806 phenoCommon Sc: 1,-2,3 BGMUT_806 protEffect H26Y; G35S BGMUT_807 commonName Sc null 2 BGMUT_807 phenoCommon Sc: -1,-2,-3 BGMUT_807 protEffect R332X BGMUT_808 alias Sc 242A BGMUT_808 commonName Sc-6 (SCER 242A) BGMUT_808 phenoCommon SC:1,-2,-3 BGMUT_808 protEffect R81Q BGMUT_809 commonName SC null 2A BGMUT_809 phenoCommon Sc: -1,-2,-3 BGMUT_809 protEffect R332X BGMUT_81 alias O5 BGMUT_81 commonName O52 BGMUT_81 phenoCommon O BGMUT_81 protEffect Q108X BGMUT_810 commonName Aw11 BGMUT_810 phenoCommon Aw BGMUT_810 protEffect V175M; R241W BGMUT_812 alias FUT2 357T, 685A BGMUT_812 commonName Se 357,685 BGMUT_812 phenoCommon secretor BGMUT_812 protEffect V229M BGMUT_813 alias FUT2 400A BGMUT_813 commonName Se 400 BGMUT_813 phenoCommon secretor BGMUT_813 protEffect V134I BGMUT_815 alias RHce 48C BGMUT_815 commonName Rhce BGMUT_815 phenoCommon Rhce e variant BGMUT_815 protEffect W16C BGMUT_816 alias O.02.16.1 BGMUT_816 commonName O55 BGMUT_816 protEffect 88fs BGMUT_817 commonName Bw11 BGMUT_817 phenoCommon Bw BGMUT_817 protEffect R176G; L232P; G235S; L266M; G268A BGMUT_818 commonName Ax10 BGMUT_818 phenoCommon Ax BGMUT_818 protEffect P156L; V277M; R337G BGMUT_819 alias O1 variant BGMUT_819 commonName O56 BGMUT_819 phenoCommon O BGMUT_819 protEffect 88fs+truncation BGMUT_82 alias O6 BGMUT_82 commonName O53 BGMUT_82 phenoCommon O BGMUT_82 protEffect W181X BGMUT_820 alias Avar (S#230); A207 (designated by Yip et al.) BGMUT_820 commonName A209 BGMUT_820 phenoCommon A2 BGMUT_820 protEffect P156L; R176H; fs + elongation BGMUT_821 alias Bvar (S#52) BGMUT_821 commonName B108 BGMUT_821 protEffect R176G; G235S; L266M; G268A; A298S BGMUT_822 alias Bvar (S#108) BGMUT_822 commonName B109 BGMUT_822 protEffect R176G; G235S; L266M; G268A BGMUT_823 alias Bvar (S#133,#216) BGMUT_823 commonName B110 (same as Bw14) BGMUT_823 phenoCommon Bw BGMUT_823 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_824 alias Bvar (S#192) BGMUT_824 commonName B111 BGMUT_824 protEffect R178G; G235S; L266M; G268A BGMUT_825 commonName Aw12 BGMUT_825 phenoCommon Aw BGMUT_825 protEffect P156L; M186V BGMUT_826 commonName Bw12 BGMUT_826 phenoCommon Bw BGMUT_826 protEffect P93L; R176G; G235S; L266M; G268A BGMUT_827 alias O.01.11.1 BGMUT_827 commonName O57 BGMUT_827 phenoCommon O BGMUT_827 protEffect 88fs BGMUT_828 commonName Aw13 BGMUT_828 phenoCommon Aw BGMUT_828 protEffect initiator Met codon is disrupted; amino terminally truncated protein BGMUT_829 alias a common haplotype in 5'region BGMUT_829 commonName A4GALT -773G, -770T, -638C, 550insC, -212G, -164C, -160G BGMUT_829 phenoCommon P1, P2 BGMUT_829 protEffect none BGMUT_83 commonName A301 BGMUT_83 phenoCommon A3 BGMUT_83 protEffect D291N BGMUT_832 alias RHD DFV BGMUT_832 commonName RHD 223V BGMUT_832 phenoCommon weak D type 4 BGMUT_832 protEffect F223V BGMUT_833 alias RHD 410T,455C, 602G, 667G, 819A BGMUT_833 commonName RHD III type 6 BGMUT_833 phenoCommon DIII type 6 BGMUT_833 protEffect A137A; N152T; T201R; F223V; A273A BGMUT_835 alias RHD 602G, 667G, 697C, 957A,1025C BGMUT_835 commonName RHD DARE BGMUT_835 phenoCommon related to weak D type 4 BGMUT_835 protEffect T201R; F223V; E233Q; V319V; I342T BGMUT_836 alias RHCE 48C, 105T, 365T BGMUT_836 commonName RHCE ceSL 2 BGMUT_836 phenoCommon ceSL;atypical serology: D antigen expression not associated with D-specific amino acids BGMUT_836 protEffect W16C, S122L BGMUT_837 alias hybrid A102 X O02 BGMUT_837 commonName Ael07 BGMUT_837 phenoCommon Ael BGMUT_837 protEffect P156L; V277M BGMUT_838 alias O217 (designated by authors) BGMUT_838 commonName O58 BGMUT_838 phenoCommon O BGMUT_838 protEffect 88fs + truncation BGMUT_839 alias O103.1 (designated by authors) BGMUT_839 commonName O59 BGMUT_839 phenoCommon O BGMUT_839 protEffect 88fs + truncation BGMUT_84 commonName A302 BGMUT_84 phenoCommon A3 BGMUT_84 protEffect V277M; 354fs BGMUT_840 commonName B305 BGMUT_840 phenoCommon B3 BGMUT_840 protEffect M142T, R176G; G235S; L266M; G268A BGMUT_841 alias GYPC-9 BGMUT_841 commonName GEIS BGMUT_841 phenoCommon GEIS BGMUT_841 protEffect T32N BGMUT_842 alias B (var) BGMUT_842 commonName B306 BGMUT_842 phenoCommon A1B3 in A101/Bvar or A102/Bvar heterozygotes or B in Bvar/O01 heterozygotes BGMUT_842 protEffect R176G; D183N; G235S; L266M; G268A BGMUT_845 alias DO 378T; 624C; 793G; 898G BGMUT_845 commonName DOB WL BGMUT_845 phenoCommon DOb BGMUT_845 protEffect N265D; L300V BGMUT_847 commonName Fut1 661T BGMUT_847 phenoCommon Para-Bombay BGMUT_847 protEffect R221C BGMUT_848 alias RHcE 48C, 538C BGMUT_848 commonName RHce ceRA BGMUT_848 phenoCommon very weak RH5 antigen BGMUT_848 protEffect W16C; G180R BGMUT_85 commonName A303 BGMUT_85 phenoCommon A3 BGMUT_85 protEffect L280F BGMUT_851 alias 1868A; KALT BGMUT_851 commonName KEL29 BGMUT_851 phenoCommon KALT BGMUT_851 protEffect R623K BGMUT_852 alias KEL 913A; KTIM BGMUT_852 commonName KEL30 BGMUT_852 phenoCommon KTIM BGMUT_852 protEffect D305N BGMUT_853 alias RHD 611C BGMUT_853 commonName RHD weak D type 19 BGMUT_853 phenoCommon normal D BGMUT_853 protEffect I204T BGMUT_854 alias RHD 1250C BGMUT_854 commonName RHD weak D type 20 BGMUT_854 phenoCommon normal D BGMUT_854 protEffect F417S BGMUT_855 alias RHce 48C, 697G, 733G; Crawford; RH43 BGMUT_855 commonName RHce ceCF BGMUT_855 phenoCommon ceCF; Crawford antigen (RH43) and VS (RH20) are expressed BGMUT_855 protEffect W16C; Q233E; L245V BGMUT_859 commonName cis-AB05 BGMUT_859 phenoCommon cisAB BGMUT_859 protEffect R176G; G235S; L266M BGMUT_86 commonName Ax01 BGMUT_86 phenoCommon Ax BGMUT_86 protEffect F216I BGMUT_860 alias RHD 3A BGMUT_860 commonName RHD Del (Cde)7 BGMUT_860 phenoCommon Del BGMUT_860 protEffect loss initiation codon BGMUT_861 alias RHD 28T BGMUT_861 commonName RHD Del (Cde)8 BGMUT_861 phenoCommon Del BGMUT_861 protEffect R10W BGMUT_862 alias RHD 53C BGMUT_862 commonName RHD Del(Cde)9 BGMUT_862 phenoCommon Del BGMUT_862 protEffect L18P BGMUT_863 alias RHD 251C BGMUT_863 commonName RHD Del(Cde)10 BGMUT_863 phenoCommon Del BGMUT_863 protEffect L84P BGMUT_864 commonName IGnT C 243A BGMUT_864 phenoCommon adult i in Taiwanese; no congenital cataract BGMUT_864 protEffect N81K BGMUT_865 commonName FUT1 538T; 1089G BGMUT_865 phenoCommon para-Bombay BGMUT_865 protEffect Q180X; A363A BGMUT_866 commonName FUT1 689C BGMUT_866 phenoCommon para-Bombay BGMUT_866 protEffect Q230P BGMUT_867 alias KEL 1899G BGMUT_867 commonName KEL7 - 1 BGMUT_867 phenoCommon Jsb BGMUT_867 protEffect L633L BGMUT_868 alias RHD DVL-1 BGMUT_868 commonName RHD 684-686del BGMUT_868 phenoCommon partial D BGMUT_868 protEffect R229del BGMUT_869 alias RHD DVL-2 BGMUT_869 commonName RHD 705-707del BGMUT_869 phenoCommon partial D BGMUT_869 protEffect K235del BGMUT_87 commonName Ax02 BGMUT_87 phenoCommon Ax BGMUT_87 protEffect F216I; V277M BGMUT_870 alias RHce ceBP BGMUT_870 commonName RHce 685-687del BGMUT_870 phenoCommon altered e and f antigen expression BGMUT_870 protEffect R229del BGMUT_871 commonName FUT1 917T BGMUT_871 phenoCommon most likely para-Bombay BGMUT_871 protEffect T306I BGMUT_872 commonName FUT1 35T, 269T BGMUT_872 phenoCommon para-Bombay BGMUT_872 protEffect A12V; G90V BGMUT_873 commonName FUT2 278T; 357T BGMUT_873 phenoCommon para-Bombay BGMUT_873 protEffect A93V; N119N BGMUT_874 commonName FUT1 422A BGMUT_874 phenoCommon Bombay BGMUT_874 protEffect W141X BGMUT_875 commonName Bel05 BGMUT_875 phenoCommon Bel BGMUT_875 protEffect R176G; G235S; L266M; G268A; V318M BGMUT_876 commonName B(A)06 BGMUT_876 phenoCommon B(A) classified as AwB BGMUT_876 protEffect R176G;G235S;L266M BGMUT_879 commonName SEMA7A 620A BGMUT_879 phenoCommon variant JMH (variant C) BGMUT_879 protEffect R207Q BGMUT_88 commonName Ax03 BGMUT_88 phenoCommon Ax BGMUT_88 protEffect F216I; V277M BGMUT_880 commonName SEMA7A 1379A BGMUT_880 phenoCommon variant JMH (variant U) BGMUT_880 protEffect R460H BGMUT_881 commonName SEMA7A 1381T BGMUT_881 phenoCommon variant JMH (variantP) BGMUT_881 protEffect R461C BGMUT_883 commonName SEMA7A 619T, 1545G BGMUT_883 phenoCommon variant JMH (variant J) BGMUT_883 protEffect R207W; Q515Q BGMUT_884 commonName CR1 4619G BGMUT_884 protEffect N1540S BGMUT_885 commonName SEMA7A 507T BGMUT_885 phenoCommon JMH-negative BGMUT_885 protEffect Y169Y BGMUT_886 commonName SEMA7A 1059T BGMUT_886 phenoCommon JMH-negative BGMUT_886 protEffect G353G BGMUT_887 commonName SEMA7A 1239T BGMUT_887 phenoCommon JMH-negative BGMUT_887 protEffect V413V BGMUT_888 alias RHD 594T;602G BGMUT_888 commonName RHD weak D type 51 BGMUT_888 phenoCommon weak D BGMUT_888 protEffect K198N; T201R BGMUT_889 alias RHD 92C BGMUT_889 commonName RHD weak D type 52 BGMUT_889 phenoCommon weakD BGMUT_889 protEffect F31S BGMUT_89 commonName Ax04 BGMUT_89 phenoCommon Ax BGMUT_89 protEffect F216I BGMUT_890 alias RHD 740G BGMUT_890 commonName RHD weak D type 53 BGMUT_890 phenoCommon weak D BGMUT_890 protEffect V247G BGMUT_891 alias RHD 667G;676C;697C;712A;733C;744T;787A;800T (D1-4 CE5 D6-10) BGMUT_891 commonName RHD V type 2 BGMUT_891 phenoCommon weakD BGMUT_891 protEffect F223V; A226P; E233Q; V238M; V245L; S248S; G263R; K267M BGMUT_892 alias RHD 667G;676C;697C;712A;733C;744T; BGMUT_892 commonName RHD V type 8 BGMUT_892 phenoCommon weak D BGMUT_892 protEffect F223V; A226P; E233Q; V238M; V245L; S248S BGMUT_894 commonName LU 361T BGMUT_894 phenoCommon Lua-b- BGMUT_894 protEffect R121X BGMUT_895 commonName LU 691T BGMUT_895 phenoCommon Lu a-b- BGMUT_895 protEffect R231X BGMUT_896 commonName RHD 325delA BGMUT_896 phenoCommon D neg. BGMUT_896 protEffect T108fs + 118X BGMUT_898 commonName RHce 48C;733G BGMUT_898 protEffect W16C; L245V BGMUT_899 alias KEL intron8 1T BGMUT_899 commonName Ko (Germany 1) BGMUT_899 phenoCommon Kell null BGMUT_899 protEffect protein altered BGMUT_9 alias A201 exonic BGMUT_9 commonName A201 BGMUT_9 phenoCommon A2 BGMUT_9 protEffect P156L; 354fs + 21aa BGMUT_900 alias KEL intron8 1A BGMUT_900 commonName Ko (Austria 1) BGMUT_900 phenoCommon Kell null or 1;-2 BGMUT_900 protEffect protein altered BGMUT_901 alias KEL 948A BGMUT_901 commonName Ko (Germany 2) BGMUT_901 phenoCommon Kell null BGMUT_901 protEffect W316X BGMUT_902 alias KEL 1216T BGMUT_902 commonName Ko (Austria 2) BGMUT_902 phenoCommon Kell 1;-2 BGMUT_902 protEffect R406X BGMUT_903 alias KEL 1477T BGMUT_903 commonName Ko (Germany 3) BGMUT_903 phenoCommon Kell null BGMUT_903 protEffect Q493X BGMUT_904 alias KEL 1546T BGMUT_904 commonName Ko (Germany 4) BGMUT_904 phenoCommon Kell null BGMUT_904 protEffect R516X BGMUT_905 alias KEL 1678G BGMUT_905 commonName Ko (Austria 3) BGMUT_905 phenoCommon Kell 1;-2 BGMUT_905 protEffect P560A BGMUT_906 alias KEL 2023T BGMUT_906 commonName Ko (Austria 4) BGMUT_906 phenoCommon Kell 1;-2 BGMUT_906 protEffect R675X BGMUT_907 alias KEL 986C BGMUT_907 commonName Ko (US 1) BGMUT_907 phenoCommon Kell 1;2mod BGMUT_907 protEffect L329P BGMUT_908 alias KEL 306A,1298T BGMUT_908 commonName Ko (Austria 5) BGMUT_908 phenoCommon Kell 1;2el BGMUT_908 protEffect D102E; P433L BGMUT_909 alias KEL 1763G BGMUT_909 commonName Ko (Austria 6) BGMUT_909 phenoCommon Kell 1;2el BGMUT_909 protEffect Y588C BGMUT_910 alias KEL 841T BGMUT_910 commonName Ko (Austria 7) BGMUT_910 phenoCommon Kell 1;2 weak BGMUT_910 protEffect R281W BGMUT_911 commonName Aw14 BGMUT_911 phenoCommon Aweak BGMUT_911 protEffect P156L; H233Q BGMUT_912 commonName Bw18 BGMUT_912 phenoCommon Bw BGMUT_912 protEffect R176G; G235S; L266M; G268T BGMUT_913 commonName Bw15 BGMUT_913 phenoCommon Bw BGMUT_913 protEffect R176G; M189V; G235S; L266M; G268A BGMUT_914 commonName Bw16 BGMUT_914 phenoCommon Bw BGMUT_914 protEffect R176G; I192T; G235S; L266M; G268A BGMUT_915 commonName Bw17 BGMUT_915 phenoCommon Bw BGMUT_915 protEffect R176G; G235S; D262N; L266M; G268A BGMUT_916 commonName Bw19 BGMUT_916 phenoCommon Bw BGMUT_916 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_917 commonName Bw14 ( same as B110) BGMUT_917 phenoCommon Bw BGMUT_917 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_919 alias RHD 494G BGMUT_919 commonName RHD weak D 494G BGMUT_919 phenoCommon putative weak or partial D BGMUT_919 protEffect Y165C BGMUT_92 commonName Ax07 BGMUT_92 phenoCommon Ax BGMUT_92 protEffect W332X BGMUT_920 alias RHD 1148C BGMUT_920 commonName RHD weak D 1148C BGMUT_920 phenoCommon putative weak or partial D BGMUT_920 protEffect L383P BGMUT_922 alias RHD 1219-1224del BGMUT_922 commonName RHD weak D 1219-1224del BGMUT_922 phenoCommon putative weak or partial D BGMUT_922 protEffect F407-W408del BGMUT_924 alias RHD 640T BGMUT_924 commonName RHD weak D 640T BGMUT_924 phenoCommon probably weak D BGMUT_924 protEffect L214F BGMUT_925 alias RHD 677A BGMUT_925 commonName RHD weak D 677A BGMUT_925 phenoCommon putative weak or partial D BGMUT_925 protEffect A266D BGMUT_926 alias RHD 1006C VAR_003525 comment in NDI BGMUT_926 commonName RHD weak D 1006C BGMUT_926 phenoCommon putative weak or partial D BGMUT_926 protEffect G366R BGMUT_927 alias RHD 65A BGMUT_927 commonName RHD weak D 65A BGMUT_927 phenoCommon putative weak or partial D BGMUT_927 protEffect A22E BGMUT_928 alias RHD 284G BGMUT_928 commonName RHD weak D 284G BGMUT_928 phenoCommon putative weak or partial D BGMUT_928 protEffect D95G BGMUT_929 alias RHD 330GTdel BGMUT_929 commonName RHD weak D 330GTdel BGMUT_929 phenoCommon D null BGMUT_929 protEffect fs BGMUT_93 commonName Ax08 BGMUT_93 phenoCommon Ax BGMUT_93 protEffect F216I; V277M BGMUT_930 alias RHD 667G,697C,1136T,1177C BGMUT_930 commonName RHD weak D 667G,697C,1136T,1177C BGMUT_930 phenoCommon partial D BGMUT_930 protEffect F223V, E233Q, T379M, W393R BGMUT_932 commonName A305 BGMUT_932 phenoCommon A3 BGMUT_932 protEffect V274M BGMUT_933 commonName A306 BGMUT_933 phenoCommon A3 BGMUT_933 protEffect P156L; V274M BGMUT_934 commonName A307 BGMUT_934 phenoCommon A3 BGMUT_934 protEffect P156L; R249W BGMUT_935 commonName Ax11 BGMUT_935 phenoCommon Ax BGMUT_935 protEffect P156L; A287V BGMUT_936 alias SLC4A1 2191C BGMUT_936 commonName SLC4A1 -Hemel BGMUT_936 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_936 protEffect S731P BGMUT_937 alias SLC4A1 166G, 1249T, 2201G BGMUT_937 commonName SLC4A1 - Hurstpierpoint 2 BGMUT_937 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_937 protEffect K56E; L417L; H734R BGMUT_938 alias SCL4A1 2113T BGMUT_938 commonName SLC4A1 - Horam BGMUT_938 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_938 protEffect D705Y BGMUT_939 alias SLC4A1 2201G BGMUT_939 commonName SLC4A1 - Hurstpierpoint 1 BGMUT_939 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_939 protEffect H734R BGMUT_94 commonName Aw01 BGMUT_94 phenoCommon Aw BGMUT_94 protEffect T136M; P156L; 354fs BGMUT_940 alias SLC4A1 2060C BGMUT_940 commonName SLC4A1 - Blackburn BGMUT_940 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_940 protEffect L687P BGMUT_941 commonName O60 (designated by authors O4 or O41) BGMUT_941 phenoCommon O BGMUT_941 protEffect 29fs; 55x BGMUT_942 commonName DO 185C,378T,624C,793G BGMUT_942 phenoCommon Do(a-b-), Hy-, Gy(a-) BGMUT_942 protEffect F62S; Y126Y; L208L; N265D BGMUT_943 alias DAF 466A BGMUT_943 commonName DAF CROM (CROM14) BGMUT_943 phenoCommon CROV- BGMUT_943 protEffect E156K BGMUT_944 alias DAF 740G BGMUT_944 commonName DAF CRAM (CROM15) BGMUT_944 phenoCommon CRAM- BGMUT_944 protEffect Q247R BGMUT_945 commonName FUT2 210G, 357T BGMUT_945 phenoCommon secretor BGMUT_945 protEffect T70T; N119N BGMUT_946 commonName FUT2 357T, 380A, 385T BGMUT_946 phenoCommon weak secretor (deduced) BGMUT_946 protEffect N119N; R127H; I129F BGMUT_947 commonName FUT2 853A BGMUT_947 phenoCommon weaker secretor (deduced reduced enzyme activity) BGMUT_947 protEffect A285T BGMUT_948 commonName FUT2 357T, 855C BGMUT_948 phenoCommon secretor BGMUT_948 protEffect N119N; A285A BGMUT_949 commonName FUT2 171G;216T;428A;572A;739A;960G;1009G;1011C BGMUT_949 phenoCommon non-secretor BGMUT_949 protEffect A57A; Y72Y; W143X; R191Q; G247S; T320T; BGMUT_95 commonName Aw02 BGMUT_95 phenoCommon Aw BGMUT_95 protEffect G117A; P156L; 354fs BGMUT_950 commonName FUT2 357T, 748insGTG BGMUT_950 phenoCommon not known BGMUT_950 protEffect 249-250insV BGMUT_951 alias CD44 488A BGMUT_951 commonName IN 4 BGMUT_951 phenoCommon IN:-4 BGMUT_951 protEffect T163K BGMUT_953 alias RHD 505C, 509G, 514T, 560A, 577A; 594T, 602G (RHD1-3 CE4 D5-10) BGMUT_953 commonName RHD DFR-2 BGMUT_953 phenoCommon DFR BGMUT_953 protEffect M169L;M170R;I172F;S182T;E193K;K198N;T201R BGMUT_959 alias RHD DCS-1 BGMUT_959 commonName RHD 667G; 676C BGMUT_959 phenoCommon ccDEe BGMUT_959 protEffect F223V; A226P BGMUT_96 commonName Aw03 BGMUT_96 phenoCommon Aw BGMUT_96 protEffect R68T; P156L; 354fs BGMUT_960 alias RHD DCS-2 BGMUT_960 commonName RHD 676C BGMUT_960 phenoCommon ccDEe BGMUT_960 protEffect A226P BGMUT_961 commonName Bw20 BGMUT_961 phenoCommon O; no or very weak anti-B in serum BGMUT_961 protEffect R176G; G235S; L266M; G268A; 272fs +38 aa BGMUT_962 commonName A210 BGMUT_962 phenoCommon A2 BGMUT_962 protEffect W90R;P156L BGMUT_963 commonName A211 BGMUT_963 phenoCommon A2 BGMUT_963 protEffect P89L;P156L BGMUT_964 commonName B307 BGMUT_964 phenoCommon B3 BGMUT_964 protEffect A137V; R176G; G235S; L266M; G268A BGMUT_97 commonName Aw04 BGMUT_97 phenoCommon Aw BGMUT_97 protEffect R241W BGMUT_98 commonName Aw05 BGMUT_98 phenoCommon Aw BGMUT_98 protEffect E322G BGMUT_99 commonName Aw06 BGMUT_99 phenoCommon Aw BGMUT_99 protEffect R168G CFMDB_911 rnaNtChange C or T at 1001+ 11 CFMDB_911 commonName 1001+ 11C/T CFMDB_912 rnaNtChange C or T at 1001+ 12 CFMDB_912 commonName 1001+ 12C/T CFMDB_1386 rnaNtChange A to T at 1001+ 3 CFMDB_1386 commonName 1001+ 3A>T CFMDB_161 rnaNtChange T to G at 1002- 3 CFMDB_161 commonName 1002- 3T- >G CFMDB_913 rnaNtChange C or G at 1002- 56 CFMDB_913 commonName 1002- 56C/G CFMDB_1387 rnaNtChange Deletion of TTT beginning at 1002- 7 CFMDB_1387 commonName 1002- 7delTTT CFMDB_162 rnaNtChange deletion of AA from 1013 CFMDB_162 commonName 1013delAA CFMDB_712 rnaNtChange T to A at - 102 CFMDB_712 commonName - 102T- >A CFMDB_1011 rnaNtChange C or T at 1047 CFMDB_1011 commonName 1047C/T CFMDB_167 rnaNtChange deletion of C at 1058 CFMDB_167 commonName 1058delC CFMDB_172 rnaNtChange deletion of T at 1078 CFMDB_172 commonName 1078delT CFMDB_1551 rnaNtChange G to A at 107 CFMDB_1551 commonName 107 G/A CFMDB_1367 rnaNtChange G or A at 1086 CFMDB_1367 commonName 1086G/A CFMDB_1173 rnaNtChange A or G at 1092 CFMDB_1173 commonName 1092A/G CFMDB_746 rnaNtChange G or A at 1098 CFMDB_746 commonName 1098G/A CFMDB_871 rnaNtChange C or G at 1104 CFMDB_871 commonName 1104(C/G) CFMDB_825 rnaNtChange deletion of T at 1112 CFMDB_825 commonName 1112delT CFMDB_178 rnaNtChange deletion of A at 1119 CFMDB_178 commonName 1119delA CFMDB_182 rnaNtChange insertion of G after 1138 CFMDB_182 commonName 1138insG CFMDB_185 rnaNtChange deletion of A at 1150 CFMDB_185 commonName 1150delA CFMDB_1371 rnaNtChange tandem duplication of 12 bp from position 1140 to position 1151 CFMDB_1371 commonName 1151ins12 CFMDB_186 rnaNtChange insertion of TC after 1154 CFMDB_186 commonName 1154insTC CFMDB_187 rnaNtChange deletion of C at 1161 CFMDB_187 commonName 1161delC CFMDB_188 rnaNtChange insertion of G after 1161 CFMDB_188 commonName 1161insG CFMDB_1554 rnaNtChange T to A at 1164 CFMDB_1554 commonName 1164 T/A CFMDB_1395 rnaNtChange Deletion of TC at 1185 CFMDB_1395 commonName 1185delTC CFMDB_657 rnaNtChange deletion of G at 1199 CFMDB_657 commonName 1199delG CFMDB_1522 rnaNtChange Deletion of 23 bp from nucleotide + 120 of exon 1 promoter, to nucleotide 142 (the first nucleotide of codon 4) CFMDB_1522 commonName 120del23 CFMDB_198 rnaNtChange deletion of T at 1213 CFMDB_198 commonName 1213delT CFMDB_200 rnaNtChange deletion of G at 1215 CFMDB_200 commonName 1215delG CFMDB_201 rnaNtChange deletion of CT from 1221 CFMDB_201 commonName 1221delCT CFMDB_203 rnaNtChange insertion of ACAAAA after 1243 CFMDB_203 commonName 1243ins6 CFMDB_914 rnaNtChange C or T at 1248+ 17 CFMDB_914 commonName 1248+ 17C- >T CFMDB_204 rnaNtChange G to A at 1248+ 1 CFMDB_204 commonName 1248+ 1G- >A CFMDB_1303 rnaNtChange G to C at 1248+ 1 CFMDB_1303 commonName 1248+ 1G- >C CFMDB_592 rnaNtChange T or C at 1248+ 52 CFMDB_592 commonName 1248+ 52T/C CFMDB_883 rnaNtChange deletion of TA at 1249- 27 CFMDB_883 commonName 1249- 27delTA CFMDB_586 rnaNtChange deletion of AT from 1249- 30 CFMDB_586 commonName 1249- 30delAT CFMDB_1611 rnaNtChange 1249- 31 A>G CFMDB_1611 commonName 1249- 31A- >G CFMDB_205 rnaNtChange A to G at 1249 CFMDB_205 commonName 1249- 5A- >G CFMDB_915 rnaNtChange C or T at 1249- 82 CFMDB_915 commonName 1249- 82C/T CFMDB_1365 rnaNtChange delete 23 bp from 124 to 146 CFMDB_1365 commonName 124del23bp CFMDB_588 rnaNtChange insertion of A after 1259 CFMDB_588 commonName 1259insA CFMDB_902 rnaNtChange G or C at 125 CFMDB_902 commonName 125G/C CFMDB_207 rnaNtChange deletion of A at 1283 CFMDB_207 commonName 1283delA CFMDB_1362 rnaNtChange Insertion of TA at 1285 Or Insertion of AT at 1284 CFMDB_1362 commonName 1288insTA CFMDB_1269 rnaNtChange delete TT from 1291 CFMDB_1269 commonName 1291delTT CFMDB_695 rnaNtChange deletion of 7 bp from 1294 CFMDB_695 commonName 1294del7 CFMDB_209 rnaNtChange G to T at 1296 CFMDB_209 commonName 1296G/T CFMDB_955 rnaNtChange G or C at 129 CFMDB_955 commonName 129G/C CFMDB_604 rnaNtChange deletion of G at 1309 CFMDB_604 commonName 1309delG CFMDB_1000 rnaNtChange insertion of A after 1323 CFMDB_1000 commonName 1323insA CFMDB_212 rnaNtChange A to C at 1341+ 18 CFMDB_212 commonName 1341+ 18A- >C CFMDB_618 rnaNtChange G to A at 1341+ 1 CFMDB_618 commonName 1341+ 1G- >A CFMDB_1451 rnaNtChange C >T at 1341+ 28 CFMDB_1451 commonName 1341+ 28C>T CFMDB_980 rnaNtChange C or T at 1341+ 28 CFMDB_980 commonName 1341+ 28C/T CFMDB_1639 rnaNtChange A to G at 1341+ 6 CFMDB_1639 commonName 1341+ 6 A>G CFMDB_1627 rnaNtChange A to G at 1341 + 6 CFMDB_1627 commonName 1341+ 6 A>G CFMDB_1509 rnaNtChange G or A at 1341+ 80 CFMDB_1509 commonName 1341+ 80G>A CFMDB_1041 rnaNtChange G to A at 1341 CFMDB_1041 commonName 1341G- >A CFMDB_213 rnaNtChange TTT to G at 1342- 11 CFMDB_213 commonName 1342- 11TTT- >G CFMDB_919 rnaNtChange G or T at 1342- 13 CFMDB_919 commonName 1342- 13G/T CFMDB_873 rnaNtChange G to C at 1342- 1 CFMDB_873 commonName 1342- 1G- >C CFMDB_214 rnaNtChange A to C at 1342- 2 CFMDB_214 commonName 1342- 2A- >C CFMDB_215 rnaNtChange deletion of AG from 1342- 2 CFMDB_215 commonName 1342- 2delAG CFMDB_1328 commonName 135del120ins300 CFMDB_752 rnaNtChange deletion of G at 1366 CFMDB_752 commonName 1366delG CFMDB_985 rnaNtChange deletion of CAAAA at 1367 CFMDB_985 commonName 1367del5 CFMDB_1149 rnaNtChange deletion of C at 1367 CFMDB_1149 commonName 1367delC CFMDB_1498 rnaNtChange deletion of 17bp from 1429 CFMDB_1498 commonName 1429del7bp CFMDB_219 rnaNtChange deletion of AT from 1460 CFMDB_219 commonName 1460delAT CFMDB_220 rnaNtChange insertion of AGAT after 1461 CFMDB_220 commonName 1461ins4 CFMDB_1568 rnaNtChange T to C at 1461 CFMDB_1568 commonName 1461 T/C CFMDB_1031 rnaNtChange deletion of A at 1471 CFMDB_1031 commonName 1471delA CFMDB_1266 rnaNtChange deletion of GG at 1497 CFMDB_1266 commonName 1497delGG CFMDB_224 rnaNtChange deletion of G at 1504 CFMDB_224 commonName 1504delG CFMDB_1211 rnaNtChange G to A at 1524+ 1 CFMDB_1211 commonName 1524+ 1G- >A CFMDB_1566 rnaNtChange Ins A at 1524+ 60 CFMDB_1566 commonName 1524+ 60 insA CFMDB_1565 rnaNtChange 1524 + 68 G>A CFMDB_1565 commonName 1524+ 68 G/A CFMDB_226 rnaNtChange insertion of C after 1524+ 6, with G to A at 1524+ 12 CFMDB_226 commonName 1524+ 6insC CFMDB_830 rnaNtChange G or A at 1525- 18 CFMDB_830 commonName 1525- 18G/A CFMDB_227 rnaNtChange G to A at 1525- 1 CFMDB_227 commonName 1525- 1G- >A CFMDB_1304 rnaNtChange A to G at 1525- 2 CFMDB_1304 commonName 1525- 2A- >G CFMDB_1510 rnaNtChange G or A at 1525- 42 CFMDB_1510 commonName 1525- 42G>A CFMDB_921 rnaNtChange G or A at 1525- 60 CFMDB_921 commonName 1525- 60G/A CFMDB_920 rnaNtChange A or G at 1525- 61 CFMDB_920 commonName 1525- 61A/G CFMDB_751 rnaNtChange C or T at 1531 CFMDB_751 commonName 1531C/T (L467F) CFMDB_978 rnaNtChange deletion of 10bp after 1540 CFMDB_978 commonName 1540del10 CFMDB_692 rnaNtChange deletion of G from 1548 - 1550 CFMDB_692 commonName 1548delG CFMDB_1574 rnaNtChange deletion of CA from 1565 CFMDB_1574 commonName 1565 del CA CFMDB_876 rnaNtChange G or A at 156 CFMDB_876 commonName 156G/A CFMDB_233 rnaNtChange deletion of G at 1571 CFMDB_233 commonName 1571delG CFMDB_1164 rnaNtChange insertion of T at 1576 CFMDB_1164 commonName 1576insT CFMDB_238 rnaNtChange deletion of CA from 1609 CFMDB_238 commonName 1609delCA CFMDB_240 rnaNtChange deletion of TT from 1612 CFMDB_240 commonName 1612delTT CFMDB_733 rnaNtChange G or A at 163 CFMDB_733 commonName 163G/A CFMDB_869 rnaNtChange C to G at 1650 CFMDB_869 commonName 1650C/G CFMDB_1023 rnaNtChange A or G at 1651 CFMDB_1023 commonName 1651A/G CFMDB_1462 rnaNtChange C to T at 1653 CFMDB_1462 commonName 1653C/T CFMDB_1610 rnaNtChange Deletion of G at 1660 CFMDB_1610 commonName 1660delG CFMDB_247 rnaNtChange deletion of TA from 1677 CFMDB_247 commonName 1677delTA CFMDB_1206 rnaNtChange A to C at 1693 CFMDB_1206 commonName 1693A- >C CFMDB_252 rnaNtChange deletion of 17 bp from 1706 CFMDB_252 commonName 1706del17 CFMDB_1025 rnaNtChange A or G at 1713 CFMDB_1025 commonName 1713A/G CFMDB_922 rnaNtChange T or C at 1716+ 12 CFMDB_922 commonName 1716+ 12T/C CFMDB_923 rnaNtChange G or T at 1716+ 13 CFMDB_923 commonName 1716+ 13G/T CFMDB_641 rnaNtChange G to A at 1716+ 1 CFMDB_641 commonName 1716+ 1G- >A CFMDB_1590 rnaNtChange 1716+ 1 G>T CFMDB_1590 commonName 1716+ 1G- >T CFMDB_662 rnaNtChange T to C at 1716+ 2 CFMDB_662 commonName 1716+ 2T- >C CFMDB_1591 rnaNtChange 1716+ 4 A>T CFMDB_1591 commonName 1716+ 4 A- >T CFMDB_896 rnaNtChange insertion of 11 nucleotides after 1716+ 63 CFMDB_896 commonName 1716+ 63ins11nt CFMDB_613 rnaNtChange A or G at 1716+ 77 CFMDB_613 commonName 1716+ 77A/G CFMDB_1026 rnaNtChange G or A at 1716 CFMDB_1026 commonName 1716G/A CFMDB_925 rnaNtChange T or C at 1717- 19 CFMDB_925 commonName 1717- 19T/C CFMDB_255 rnaNtChange G to A at 1717- 1 CFMDB_255 commonName 1717- 1G- >A CFMDB_254 rnaNtChange A to G at 1717- 2 CFMDB_254 commonName 1717- 2A- >G CFMDB_663 rnaNtChange T to G at 1717- 3 CFMDB_663 commonName 1717- 3T- >G CFMDB_253 rnaNtChange G to A at 1717- 8 CFMDB_253 commonName 1717- 8G- >A CFMDB_1022 rnaNtChange T to A at 1717- 9 CFMDB_1022 commonName 1717- 9T- >A CFMDB_831 rnaNtChange deletion of AC from 1742 CFMDB_831 commonName 1742delAC CFMDB_1128 rnaNtChange insertion of TA at 1749 CFMDB_1128 commonName 1749insTA CFMDB_630 rnaNtChange deletion of A between 172- 174 CFMDB_630 commonName 174delA CFMDB_13 rnaNtChange deletion of C at 175 CFMDB_13 commonName 175delC CFMDB_14 rnaNtChange insertion of T after 175 CFMDB_14 commonName 175insT CFMDB_1150 rnaNtChange T or G at 1764 CFMDB_1150 commonName 1764T/G CFMDB_1284 rnaNtChange delete 6 nucleotide from 1767 CFMDB_1284 commonName 1767del6 CFMDB_1027 rnaNtChange A or T at 1773 CFMDB_1027 commonName 1773A/T CFMDB_260 rnaNtChange deletion of CT from 1774 CFMDB_260 commonName 1774delCT CFMDB_267 rnaNtChange deletion of A at 1782 CFMDB_267 commonName 1782delA CFMDB_270 rnaNtChange deletion of G at 1784 CFMDB_270 commonName 1784delG CFMDB_664 rnaNtChange deletion of C at 1802 CFMDB_664 commonName 1802delC CFMDB_277 rnaNtChange deletion of A at 1806 CFMDB_277 commonName 1806delA CFMDB_1287 rnaNtChange A to G at 1811+ 11 CFMDB_1287 commonName 1811+ 11A- >G CFMDB_1532 rnaNtChange 1811+ 1650 T>A CFMDB_1532 commonName 1811 + 1650 T>A CFMDB_1519 rnaNtChange 1811+ 16 T>C CFMDB_1519 commonName 1811+ 16T- >C CFMDB_282 rnaNtChange G to A at 1811+ 18 CFMDB_282 commonName 1811+ 18G- >A CFMDB_1505 rnaNtChange G to A at 1811+ 1 CFMDB_1505 commonName 1811 + 1 G>A CFMDB_281 rnaNtChange G to C at 1811+ 1 CFMDB_281 commonName 1811+ 1G- >C CFMDB_1388 rnaNtChange G to A at1811+ 34 CFMDB_1388 commonName 1811+ 34 G>A CFMDB_1608 rnaNtChange 1811+ 5 A>G CFMDB_1608 commonName 1811+ 5A- >G CFMDB_926 rnaNtChange T or C at 1812- 108 CFMDB_926 commonName 1812- 108T/C CFMDB_284 rnaNtChange G to A at 1812- 1 CFMDB_284 commonName 1812- 1G- >A CFMDB_1363 rnaNtChange T to C at 1812- 26 CFMDB_1363 commonName 1812- 26T- >C CFMDB_1088 rnaNtChange T or G at 1812- 59 CFMDB_1088 commonName 1812- 59T/G CFMDB_1575 rnaNtChange 1812 - 5 T>A CFMDB_1575 commonName 1812- 5 T- >A CFMDB_730 rnaNtChange insertion of C after 1813 (or 1814) CFMDB_730 commonName 1813insC CFMDB_15 rnaNtChange deletion of T at 182 CFMDB_15 commonName 182delT CFMDB_292 rnaNtChange deletion of T at 1833 CFMDB_292 commonName 1833delT CFMDB_893 rnaNtChange G to T at 185+ 1 CFMDB_893 commonName 185+ 1G- >T CFMDB_1032 rnaNtChange A to G at 185+ 45 CFMDB_1032 commonName 185+ 45A- >G CFMDB_16 rnaNtChange A to T at 185+ 4 CFMDB_16 commonName 185+ 4A- >T CFMDB_17 rnaNtChange C to G at 186- 13 CFMDB_17 commonName 186- 13C- >G CFMDB_1175 rnaNtChange deletion of G at 1870 CFMDB_1175 commonName 1870delG CFMDB_305 rnaNtChange insertion of T between 1871 and 1874 CFMDB_305 commonName 1874insT CFMDB_927 rnaNtChange T or A at 1898+ 152 CFMDB_927 commonName 1898+ 152T/A CFMDB_309 rnaNtChange G to A at 1898+ 1 CFMDB_309 commonName 1898+ 1G- >A CFMDB_311 rnaNtChange G to C at 1898+ 1 CFMDB_311 commonName 1898+ 1G- >C CFMDB_310 rnaNtChange G to T at 1898+ 1 CFMDB_310 commonName 1898+ 1G- >T CFMDB_1046 rnaNtChange G or A at 1898+ 30 CFMDB_1046 commonName 1898+ 30G/A CFMDB_312 rnaNtChange A to C at 1898+ 3 CFMDB_312 commonName 1898+ 3A- >C CFMDB_313 rnaNtChange A to G at 1898+ 3 CFMDB_313 commonName 1898+ 3A- >G CFMDB_740 rnaNtChange G to A at 1898+ 5 CFMDB_740 commonName 1898+ 5G- >A CFMDB_314 rnaNtChange G to T at 1898+ 5 CFMDB_314 commonName 1898+ 5G- >T CFMDB_315 rnaNtChange T to G at 1898+ 73 CFMDB_315 commonName 1898+ 73T- >G CFMDB_316 rnaNtChange deletion of GC from 1918 CFMDB_316 commonName 1918delGC CFMDB_317 rnaNtChange deletion of 7 bp (AAACTA) from 1924 CFMDB_317 commonName 1924del7 CFMDB_1593 rnaNtChange Deletion of G at nucleotide 1932 CFMDB_1593 commonName 1932delG CFMDB_318 rnaNtChange deletion of 84 bp from 1949 CFMDB_318 commonName 1949del84 CFMDB_327 rnaNtChange deletion of G at 2043 CFMDB_327 commonName 2043delG CFMDB_969 rnaNtChange deletion of TT from 2051 CFMDB_969 commonName 2051delTT CFMDB_328 rnaNtChange deletion of 9 bp CTCAAAACT to A at 2055 CFMDB_328 commonName 2055del9- >A CFMDB_824 rnaNtChange C or G at 2064 CFMDB_824 commonName 2064C/G CFMDB_981 rnaNtChange C or T at 2082 CFMDB_981 commonName 2082C/T CFMDB_1030 rnaNtChange A or G at 2092 CFMDB_1030 commonName 2092A/G CFMDB_1283 rnaNtChange Deletion of 13 bp and insertion of AGAAA at 2105- 2117 CFMDB_1283 commonName 2105- 2117del13insAGAAA CFMDB_1056 rnaNtChange deletion of A at 2108 CFMDB_1056 commonName 2108delA CFMDB_330 rnaNtChange deletion of A at 2113 CFMDB_330 commonName 2113delA CFMDB_1093 rnaNtChange deletion of CTAA at 2116 CFMDB_1093 commonName 2116delCTAA CFMDB_331 rnaNtChange deletion of AACT from 2118 CFMDB_331 commonName 2118del4 CFMDB_19 rnaNtChange deletion of G at 211 CFMDB_19 commonName 211delG CFMDB_334 rnaNtChange insertion of A after 2141 CFMDB_334 commonName 2141insA CFMDB_335 rnaNtChange deletion of T at 2143 CFMDB_335 commonName 2143delT CFMDB_337 rnaNtChange insertion of C after 2176 CFMDB_337 commonName 2176insC CFMDB_338 rnaNtChange A to G at 2183 and deletion of A at 2184 CFMDB_338 commonName 2183AA- >G CFMDB_758 rnaNtChange deletion of AA at 2183 CFMDB_758 commonName 2183delAA CFMDB_1437 rnaNtChange A to G at 2184 CFMDB_1437 commonName 2184A/G CFMDB_339 rnaNtChange deletion of A at 2184 CFMDB_339 commonName 2184delA CFMDB_340 rnaNtChange insertion of A after 2184 CFMDB_340 commonName 2184insA CFMDB_1060 rnaNtChange insertion of C at 2185 CFMDB_1060 commonName 2185insC CFMDB_1396 rnaNtChange Insertion of 4T at 2193 CFMDB_1396 commonName 2193ins4 CFMDB_1180 rnaNtChange insertion of G at 2215 CFMDB_1180 commonName 2215insG CFMDB_1594 rnaNtChange insertion of A at 2221 CFMDB_1594 commonName 2221insA CFMDB_766 rnaNtChange C or G at 2238 CFMDB_766 commonName 2238C/G CFMDB_1001 rnaNtChange C or T at 223 CFMDB_1001 commonName 223C/T CFMDB_1333 rnaNtChange Deletion of 7 bp and insertion of GT at 2289- 2295 CFMDB_1333 commonName 2289- 2295del7bpinsGT CFMDB_348 rnaNtChange insertion of A after 2307 CFMDB_348 commonName 2307insA CFMDB_587 rnaNtChange Deletion of 18 bp from 232 CFMDB_587 commonName 232del18 CFMDB_1153 rnaNtChange deletion of A at 2335 CFMDB_1153 commonName 2335delA CFMDB_351 rnaNtChange deletion of G at 2347 CFMDB_351 commonName 2347delG CFMDB_352 rnaNtChange deletion of 8 bp from 2372 CFMDB_352 commonName 2372del8 CFMDB_715 rnaNtChange C or T at 2377 CFMDB_715 commonName 2377C/T CFMDB_24 rnaNtChange insertion of A after 237 CFMDB_24 commonName 237insA CFMDB_1621 rnaNtChange deletion of CC at 2406 CFMDB_1621 commonName 2406delCC CFMDB_1617 rnaNtChange G to A at 2412 CFMDB_1617 commonName 2412G/A CFMDB_1390 rnaNtChange G to T at 2418 CFMDB_1390 commonName 2418GG>T CFMDB_25 rnaNtChange deletion of AT from 241 CFMDB_25 commonName 241delAT CFMDB_354 rnaNtChange deletion of G at 2423 CFMDB_354 commonName 2423delG CFMDB_703 rnaNtChange deletion of TA from 244 CFMDB_703 commonName 244delTA CFMDB_1207 rnaNtChange deletion of AC at 2456 CFMDB_1207 commonName 2456delAC CFMDB_1208 rnaNtChange insertion of 8bp after 2493 CFMDB_1208 commonName 2493ins8 CFMDB_359 rnaNtChange insertion of C after 2522 CFMDB_359 commonName 2522insC CFMDB_767 rnaNtChange A or G at 2553 CFMDB_767 commonName 2553A/G CFMDB_361 rnaNtChange insertion of AT after 2556 CFMDB_361 commonName 2556insAT CFMDB_362 rnaNtChange insertion of T after 2566 CFMDB_362 commonName 2566insT CFMDB_1504 rnaNtChange deletion of T at 2585 CFMDB_1504 commonName 2585delT CFMDB_365 rnaNtChange deletion of T at 2603/4 CFMDB_365 commonName 2603delT CFMDB_811 rnaNtChange G or A at 2622+ 14 CFMDB_811 commonName 2622+ 14G/A CFMDB_369 rnaNtChange G to A at 2622+ 1 CFMDB_369 commonName 2622+ 1G- >A CFMDB_1196 rnaNtChange G to T at 2622+ 1 CFMDB_1196 commonName 2622+ 1G- >T CFMDB_849 rnaNtChange deletion of TAGGTA from 2622+ 2 CFMDB_849 commonName 2622+ 2del6 CFMDB_1426 rnaNtChange T to C at 2622+ 2 CFMDB_1426 commonName 2622+ 2T>C CFMDB_1595 rnaNtChange 2623- 11 C>T CFMDB_1595 commonName 2623- 11 C- >T CFMDB_1612 rnaNtChange 2623- 23 A>G CFMDB_1612 commonName 2623- 23A- >G CFMDB_1309 rnaNtChange A to G at 2623- 2 CFMDB_1309 commonName 2623- 2A- >G CFMDB_1637 rnaNtChange Deletion of T at 2634 CFMDB_1637 commonName 2634delT CFMDB_837 rnaNtChange insertion of T after 2634 CFMDB_837 commonName 2634insT CFMDB_1002 rnaNtChange A or T at 263 CFMDB_1002 commonName 263A/T CFMDB_879 rnaNtChange deletion of T at 2640 CFMDB_879 commonName 2640delT CFMDB_768 rnaNtChange T or C at 2691 CFMDB_768 commonName 2691T/C CFMDB_1181 rnaNtChange deletion of T at 2694 CFMDB_1181 commonName 2694delT CFMDB_1114 rnaNtChange T or C at 2694 CFMDB_1114 commonName 2694T/C CFMDB_769 rnaNtChange T or G at 2694 CFMDB_769 commonName 2694T/G CFMDB_759 rnaNtChange G or A at 2703 CFMDB_759 commonName 2703G/A CFMDB_375 rnaNtChange deletion of T at 2711 CFMDB_375 commonName 2711delT CFMDB_376 rnaNtChange deletion of 11 bp from 2721 CFMDB_376 commonName 2721del11 CFMDB_701 rnaNtChange deletion of TT from 2723 CFMDB_701 commonName 2723delTT CFMDB_1081 rnaNtChange insertion of A at 2732 CFMDB_1081 commonName 2732insA CFMDB_378 rnaNtChange Deletion of G at 2734 with insertion of AT CFMDB_378 commonName 2734G- >AT CFMDB_770 rnaNtChange G or A at 2736 CFMDB_770 commonName 2736G/A CFMDB_1596 rnaNtChange Deletion of C at nucleotide 2747 CFMDB_1596 commonName 2747delC CFMDB_671 rnaNtChange T to A at 2751+ 2 CFMDB_671 commonName 2751+ 2T- >A CFMDB_380 rnaNtChange A to G at 2751+ 3 CFMDB_380 commonName 2751+ 3A- >G CFMDB_379 rnaNtChange G to A at 2751 CFMDB_379 commonName 2751G- >A CFMDB_929 rnaNtChange C or G at 2752- 15 CFMDB_929 commonName 2752- 15C/G CFMDB_1358 rnaNtChange G to A at 2752- 17 CFMDB_1358 commonName 2752- 17G/A CFMDB_1017 rnaNtChange G to C at 2752- 1 CFMDB_1017 commonName 2752- 1G- >C CFMDB_382 rnaNtChange G to T at 2752- 1 CFMDB_382 commonName 2752- 1G- >T CFMDB_928 rnaNtChange A or G at 2752- 22 CFMDB_928 commonName 2752- 22A/G CFMDB_381 rnaNtChange A to G at 2752- 26 CFMDB_381 commonName 2752- 26A- >G CFMDB_1432 rnaNtChange 2752- 674_3499+ 198del9855bp CFMDB_1432 commonName 2752- 674_3499+ 198del9855 CFMDB_1311 rnaNtChange T to C at 2752- 6 CFMDB_1311 commonName 2752- 6T- >C CFMDB_1310 rnaNtChange C to T at 2752- 97 CFMDB_1310 commonName 2752- 97C- >T CFMDB_383 rnaNtChange deletion of 8 bp from 2766 CFMDB_383 commonName 2766del8 CFMDB_1478 rnaNtChange Deletion of 16 nucleotides from 2787 CFMDB_1478 commonName 2787del16 CFMDB_835 rnaNtChange insertion of A after 2789+ 2 CFMDB_835 commonName 2789+ 2insA CFMDB_930 rnaNtChange T or C at 2789+ 32 CFMDB_930 commonName 2789+ 32T/C CFMDB_386 rnaNtChange deletion of G at 2789+ 3 CFMDB_386 commonName 2789+ 3delG CFMDB_387 rnaNtChange G to A at 2789+ 5 CFMDB_387 commonName 2789+ 5G- >A CFMDB_389 rnaNtChange G to C at 2790- 1 CFMDB_389 commonName 2790- 1G- >C CFMDB_390 rnaNtChange G to T at 2790- 1 CFMDB_390 commonName 2790- 1G- >T CFMDB_932 rnaNtChange G or A at 2790- 21 CFMDB_932 commonName 2790- 21G/A CFMDB_388 rnaNtChange A to G at 2790- 2 CFMDB_388 commonName 2790- 2A- >G CFMDB_699 rnaNtChange A to G at 279 CFMDB_699 commonName 279A/G CFMDB_1620 rnaNtChange G or T at 2811 CFMDB_1620 commonName 2811G/T CFMDB_1392 rnaNtChange delete 4bp(CTCA) at 2819, insert 13 bp (TGAGTACTATGAG) at 2819 CFMDB_1392 commonName 2819del4bpins13bp CFMDB_771 rnaNtChange T or C at 2839 CFMDB_771 commonName 2839T/C CFMDB_976 rnaNtChange A or T at 2844 CFMDB_976 commonName 2844A/T CFMDB_32 rnaNtChange deletion of A at 284 CFMDB_32 commonName 284delA CFMDB_1095 rnaNtChange A or G at 2851 CFMDB_1095 commonName 2851A/G CFMDB_842 rnaNtChange C or T at 2856 CFMDB_842 commonName 2856C/T CFMDB_772 rnaNtChange G or T at 2858 CFMDB_772 commonName 2858G/T CFMDB_1564 rnaNtChange G to A at 2868 CFMDB_1564 commonName 2868 G/A CFMDB_394 rnaNtChange insertion of G after 2869 CFMDB_394 commonName 2869insG CFMDB_713 rnaNtChange insertion of AG after 2896 CFMDB_713 commonName 2896insAG CFMDB_773 rnaNtChange C or T at 2901 CFMDB_773 commonName 2901C/T CFMDB_399 rnaNtChange deletion of TT from 2907 CFMDB_399 commonName 2907delTT CFMDB_400 rnaNtChange deletion of T at 2909 CFMDB_400 commonName 2909delT CFMDB_1171 rnaNtChange A or G at 2940 CFMDB_1171 commonName 2940A/G CFMDB_1067 rnaNtChange insertion of T at 2942 CFMDB_1067 commonName 2942insT CFMDB_1018 rnaNtChange AT to C at 2948 CFMDB_1018 commonName 2948AT- >C CFMDB_690 rnaNtChange insertion of ATTGGAAA after 295 CFMDB_690 commonName 295ins8 CFMDB_35 rnaNtChange T to C at 296+ 12 CFMDB_35 commonName 296+ 12T- >C CFMDB_1331 rnaNtChange G to A at 296+ 1 CFMDB_1331 commonName 296+ 1G- >A CFMDB_33 rnaNtChange G to C at 296+ 1 CFMDB_33 commonName 296+ 1G- >C CFMDB_1130 rnaNtChange G to T at 296+ 1 CFMDB_1130 commonName 296+ 1G- >T CFMDB_1368 rnaNtChange A to G at 296+ 28 CFMDB_1368 commonName 296+ 28A- >G CFMDB_1336 rnaNtChange T to A at 296+ 2 CFMDB_1336 commonName 296+ 2T- >A CFMDB_34 rnaNtChange T to C at 296+ 2 CFMDB_34 commonName 296+ 2T- >C CFMDB_1401 rnaNtChange T to G at 296 + 2 CFMDB_1401 commonName 296+ 2T- >G CFMDB_971 rnaNtChange insertion of T after 296+ 3 CFMDB_971 commonName 296+ 3insT CFMDB_622 rnaNtChange G or A at 2967 CFMDB_622 commonName 2967G/A CFMDB_647 rnaNtChange A to T at 296+ 9 CFMDB_647 commonName 296+ 9A- >T CFMDB_1052 rnaNtChange T to G at 297- 10 CFMDB_1052 commonName 297- 10T- >G CFMDB_1187 rnaNtChange insertion of A at 297- 12 CFMDB_1187 commonName 297- 12insA CFMDB_36 rnaNtChange insertion of A after 297- 28 CFMDB_36 commonName 297- 28insA CFMDB_37 rnaNtChange A to G at 297- 2 CFMDB_37 commonName 297- 2A- >G CFMDB_850 rnaNtChange C to A at 297- 3 CFMDB_850 commonName 297- 3C- >A CFMDB_38 rnaNtChange C to T at 297- 3 CFMDB_38 commonName 297- 3C- >T CFMDB_1626 rnaNtChange A to G at 297- 45 CFMDB_1626 commonName 297- 45 A>G CFMDB_892 rnaNtChange A or G at 297- 50 CFMDB_892 commonName 297- 50A/G CFMDB_1343 rnaNtChange C to T at 297- 55 CFMDB_1343 commonName 297- 55C/T CFMDB_904 rnaNtChange A or C at 297- 67 CFMDB_904 commonName 297- 67A/C CFMDB_1555 rnaNtChange 297 - 73 A>G CFMDB_1555 commonName 297- 73 A/G CFMDB_407 rnaNtChange deletion of 32 bp from 2991 to 3022 CFMDB_407 commonName 2991del32 CFMDB_408 rnaNtChange deletion of G at 3007 CFMDB_408 commonName 3007delG CFMDB_39 rnaNtChange deletion of A at 300 CFMDB_39 commonName 300delA CFMDB_617 rnaNtChange deletion of A at 3028 CFMDB_617 commonName 3028delA CFMDB_774 rnaNtChange G or A at 3030 CFMDB_774 commonName 3030G/A CFMDB_1312 rnaNtChange T to C at 3040+ 23 CFMDB_1312 commonName 3040+ 23T- >C CFMDB_643 rnaNtChange T to C at 3040+ 2 CFMDB_643 commonName 3040+ 2T- >C CFMDB_1219 rnaNtChange deletion of GTATATT at 3041- 11 CFMDB_1219 commonName 3041- 11del7 CFMDB_1220 rnaNtChange T to G at 3041- 15 CFMDB_1220 commonName 3041- 15T- >G CFMDB_410 rnaNtChange G to A at 3041- 1 CFMDB_410 commonName 3041- 1G- >A CFMDB_1330 rnaNtChange A to G at 3041- 4 CFMDB_1330 commonName 3041- 4A- >G CFMDB_1563 rnaNtChange 3041 - 51 T>G CFMDB_1563 commonName 3041- 51 T/G CFMDB_934 rnaNtChange G or C at 3041- 71 CFMDB_934 commonName 3041- 71G/C CFMDB_933 rnaNtChange G or A at 3041- 92 CFMDB_933 commonName 3041- 92G/A CFMDB_411 rnaNtChange deletion of G at 3041 CFMDB_411 commonName 3041delG CFMDB_412 rnaNtChange deletion of GA from 3056 CFMDB_412 commonName 3056delGA CFMDB_42 rnaNtChange deletion of TAGA from 306 CFMDB_42 commonName 306delTAGA CFMDB_43 rnaNtChange insertion of A at 306 CFMDB_43 commonName 306insA CFMDB_717 rnaNtChange deletion of TT from 3079 CFMDB_717 commonName 3079delTT CFMDB_416 rnaNtChange insertion of A after 3100 CFMDB_416 commonName 3100insA CFMDB_1313 rnaNtChange G to A at 3120+ 198 CFMDB_1313 commonName 3120+ 198G- >A CFMDB_419 rnaNtChange G to A at 3120+ 1 CFMDB_419 commonName 3120+ 1G- >A CFMDB_1645 rnaNtChange A to T at 3120+ 35 CFMDB_1645 commonName 3120+ 35 A>T CFMDB_1344 rnaNtChange Delete A at 3120+ 41 CFMDB_1344 commonName 3120+ 41delA CFMDB_1172 rnaNtChange A or G at 3120+ 45 CFMDB_1172 commonName 3120+ 45A/G CFMDB_418 rnaNtChange G to A at 3120 CFMDB_418 commonName 3120G- >A CFMDB_422 rnaNtChange G to A at 3121- 1 CFMDB_422 commonName 3121- 1G- >A CFMDB_421 rnaNtChange A to G at 3121- 2 CFMDB_421 commonName 3121- 2A- >G CFMDB_420 rnaNtChange A to T at 3121- 2 CFMDB_420 commonName 3121- 2A- >T CFMDB_1337 rnaNtChange C to G at 3121- 3 CFMDB_1337 commonName 3121- 3C- >G CFMDB_1433 rnaNtChange 3121- 977_3499+ 248del2515bp CFMDB_1433 commonName 3121- 977_3499+ 248del2515 CFMDB_853 rnaNtChange deletion of ATTA from 3126 CFMDB_853 commonName 3126del4 CFMDB_423 rnaNtChange deletion of 4 bp from 3129 CFMDB_423 commonName 3129del4 CFMDB_1289 rnaNtChange delete 15 nucleotide at 3130 CFMDB_1289 commonName 3130del15 CFMDB_1376 rnaNtChange Deletion of A at 3130 CFMDB_1376 commonName 3130delA CFMDB_424 rnaNtChange deletion of 15 bp from 3130, 3131, or 3132 CFMDB_424 commonName 3131del15 CFMDB_425 rnaNtChange deletion of TG from 3132 CFMDB_425 commonName 3132delTG CFMDB_1470 rnaNtChange del AGCTATAGC from 3141 CFMDB_1470 commonName 3141del9 CFMDB_1262 rnaNtChange delete T at 3152 CFMDB_1262 commonName 3152delT CFMDB_428 rnaNtChange deletion of T at 3153 CFMDB_428 commonName 3153delT CFMDB_875 rnaNtChange deletion of G at 3154 CFMDB_875 commonName 3154delG CFMDB_1080 rnaNtChange deletion of C at 3171 CFMDB_1080 commonName 3171delC CFMDB_429 rnaNtChange insertion of C after 3171 CFMDB_429 commonName 3171insC CFMDB_582 rnaNtChange deletion of AC from 3173 CFMDB_582 commonName 3173delAC CFMDB_430 rnaNtChange deletion of AGTGAT from 3195 to 3200 CFMDB_430 commonName 3195del6 CFMDB_431 rnaNtChange deletion of 54 bp from 3196 CFMDB_431 commonName 3196del54 CFMDB_828 rnaNtChange deletion of ATAGTG from 3199 CFMDB_828 commonName 3199del6 CFMDB_1469 rnaNtChange 3238delA CFMDB_1469 commonName 3238delA CFMDB_827 rnaNtChange C or G at 3271+ 101 CFMDB_827 commonName 3271+ 101C/G CFMDB_1104 rnaNtChange T to G at 3271+ 183 CFMDB_1104 commonName 3271+ 183 T to G CFMDB_937 rnaNtChange C or T at 3271+ 18 CFMDB_937 commonName 3271+ 18C/T CFMDB_434 rnaNtChange G to A at 3271+ 1 CFMDB_434 commonName 3271+ 1G- >A CFMDB_938 rnaNtChange A or T at 3271+ 42 CFMDB_938 commonName 3271+ 42A/T CFMDB_1508 rnaNtChange A to G at 3271+ 8 CFMDB_1508 commonName 3271+ 8A>G CFMDB_970 rnaNtChange deletion of GG at 3271 CFMDB_970 commonName 3271delGG CFMDB_1351 rnaNtChange A to G at 3272- 11 CFMDB_1351 commonName 3272- 11A- >G CFMDB_437 rnaNtChange G to A at 3272- 1 CFMDB_437 commonName 3272- 1G- >A CFMDB_435 rnaNtChange A to G at 3272- 26 CFMDB_435 commonName 3272- 26A- >G CFMDB_1089 rnaNtChange A or G at 3272- 33 CFMDB_1089 commonName 3272- 33A/G CFMDB_1562 rnaNtChange 3272 - 42 G>T CFMDB_1562 commonName 3272- 42 G/T CFMDB_436 rnaNtChange A to G at 3272- 4 CFMDB_436 commonName 3272- 4A- >G CFMDB_432 rnaNtChange deletion of 704 bp from 3272- 54 CFMDB_432 commonName 3272- 54del704 CFMDB_433 rnaNtChange A to T at 3272- 9 CFMDB_433 commonName 3272- 9A- >T CFMDB_440 rnaNtChange deletion of A at 3293 CFMDB_440 commonName 3293delA CFMDB_901 rnaNtChange A or G at - 329 upstream of the cap site CFMDB_901 commonName - 329A/G CFMDB_444 rnaNtChange insertion of CTATG after 3320 CFMDB_444 commonName 3320ins5 CFMDB_779 rnaNtChange C or T at 3333 CFMDB_779 commonName 3333C/T CFMDB_780 rnaNtChange C or T at 3336 CFMDB_780 commonName 3336C/T CFMDB_458 rnaNtChange deletion of CT from 3359 CFMDB_458 commonName 3359delCT CFMDB_781 rnaNtChange A or G at 3384 CFMDB_781 commonName 3384A/G CFMDB_1115 rnaNtChange deletion of C at 3396 CFMDB_1115 commonName 3396delC CFMDB_3 rnaNtChange G to A at - 33 CFMDB_3 commonName - 33G- >A CFMDB_1434 rnaNtChange Partial deletion of exon 17b. It removes 355 bp, i.e. from nt 3413 (in; codon 1094) to 3499+ 268 in intron 17b; the sequence "TGTTAA" is; inserted at the breakpoints. CFMDB_1434 commonName 3413del355_insTGTTAA CFMDB_782 rnaNtChange A or T at 3417 CFMDB_782 commonName 3417A/T CFMDB_465 rnaNtChange deletion of T at 3419 CFMDB_465 commonName 3419delT CFMDB_466 rnaNtChange deletion of C at 3423 CFMDB_466 commonName 3423delC CFMDB_1003 rnaNtChange T or C at 345 CFMDB_1003 commonName 345T/C CFMDB_783 rnaNtChange T or C at 3471 CFMDB_783 commonName 3471T/C CFMDB_1157 rnaNtChange C or A at 3477 CFMDB_1157 commonName 3477C/A CFMDB_48 rnaNtChange deletion of C at 347 CFMDB_48 commonName 347delC CFMDB_474 rnaNtChange deletion of A at 3495 CFMDB_474 commonName 3495delA CFMDB_478 rnaNtChange T to C at 3499+ 2 CFMDB_478 commonName 3499+ 2T- >C CFMDB_940 rnaNtChange G or A at 3499+ 37 CFMDB_940 commonName 3499+ 37G/A CFMDB_677 rnaNtChange A to G at 3499+ 3 CFMDB_677 commonName 3499+ 3A- >G CFMDB_941 rnaNtChange T or C at 3499+ 45 CFMDB_941 commonName 3499+ 45T/C CFMDB_476 rnaNtChange A to G at 3499+ 6 CFMDB_476 commonName 3499+ 6A- >G CFMDB_1316 rnaNtChange T to G at 3499+ 7 CFMDB_1316 commonName 3499+ 7T- >G CFMDB_943 rnaNtChange A or C at 3500- 140 CFMDB_943 commonName 3500- 140A/C CFMDB_1588 rnaNtChange 3500 - 1 G>A CFMDB_1588 commonName 3500 - 1 G to A CFMDB_967 rnaNtChange A to G at 3500- 2 CFMDB_967 commonName 3500- 2A- >G CFMDB_693 rnaNtChange G or A at 3500- 44 CFMDB_693 commonName 3500- 44G/A CFMDB_1055 rnaNtChange A to G at 3523 CFMDB_1055 commonName 3523A- >G CFMDB_881 rnaNtChange AC to GTA from 3532 CFMDB_881 commonName 3532AC- >GTA CFMDB_483 rnaNtChange insertion of AGTA after position 3556 CFMDB_483 commonName 3556insAGTA CFMDB_838 rnaNtChange deletion of T at 3577 CFMDB_838 commonName 3577delT CFMDB_52 rnaNtChange insertion of T after 359 CFMDB_52 commonName 359insT CFMDB_845 rnaNtChange insertion of T after 3600+ 2 CFMDB_845 commonName 3600+ 2insT CFMDB_1174 rnaNtChange T to C at 3600+ 2 CFMDB_1174 commonName 3600+ 2T- >C CFMDB_694 rnaNtChange G or A at 3600+ 42 CFMDB_694 commonName 3600+ 42G/A CFMDB_488 rnaNtChange G to A at 3600+ 5 CFMDB_488 commonName 3600+ 5G- >A CFMDB_487 rnaNtChange G to A at 3600 CFMDB_487 commonName 3600G- >A CFMDB_945 rnaNtChange G or C at 3601- 111 CFMDB_945 commonName 3601- 111G/C CFMDB_489 rnaNtChange T to C at 3601- 17 CFMDB_489 commonName 3601- 17T- >C CFMDB_608 rnaNtChange T to C at 3601- 20 CFMDB_608 commonName 3601- 20T- >C CFMDB_490 rnaNtChange A to G at 3601- 2 CFMDB_490 commonName 3601- 2A- >G CFMDB_944 rnaNtChange C or A at 3601- 65 CFMDB_944 commonName 3601- 65C/A CFMDB_1334 rnaNtChange Insertion of T at 360- 365 CFMDB_1334 commonName 360- 365insT CFMDB_805 rnaNtChange deletion of T at 360 CFMDB_805 commonName 360delT CFMDB_784 rnaNtChange G or T at 3617 CFMDB_784 commonName 3617G/T CFMDB_607 rnaNtChange insertion of T after 3622 CFMDB_607 commonName 3622insT CFMDB_1350 rnaNtChange Deletion of T at 3629 CFMDB_1350 commonName 3629delT CFMDB_1560 rnaNtChange C to T at 3636 CFMDB_1560 commonName 3636 C/T CFMDB_1053 rnaNtChange C to T at - 363 CFMDB_1053 commonName - 363C/T CFMDB_495 rnaNtChange deletion of C at 3659 CFMDB_495 commonName 3659delC CFMDB_497 rnaNtChange deletion of A at 3662 CFMDB_497 commonName 3662delA CFMDB_498 rnaNtChange deletion of 4 bp from 3667 CFMDB_498 commonName 3667del4 CFMDB_499 rnaNtChange insertion of TCAA after 3667 CFMDB_499 commonName 3667ins4 CFMDB_1050 rnaNtChange deletion of A at 3670 CFMDB_1050 commonName 3670delA CFMDB_984 rnaNtChange G to A at 3696 CFMDB_984 commonName 3696G/A CFMDB_503 rnaNtChange deletion of G at 3724 CFMDB_503 commonName 3724delG CFMDB_786 rnaNtChange G or T at 3726 CFMDB_786 commonName 3726G/T CFMDB_504 rnaNtChange deletion of A at 3732 and A to G at 3730 CFMDB_504 commonName 3732delA CFMDB_505 rnaNtChange deletion of A at 3737 CFMDB_505 commonName 3737delA CFMDB_507 rnaNtChange deletion of AG from 3750 CFMDB_507 commonName 3750delAG CFMDB_960 rnaNtChange deletion of G between 3751 and 3755 CFMDB_960 commonName 3755delG CFMDB_1559 rnaNtChange A to C at 3780 CFMDB_1559 commonName 3780 A/C CFMDB_890 rnaNtChange insertion of A at 3789 CFMDB_890 commonName 3789insA CFMDB_787 rnaNtChange C or T at 3791 CFMDB_787 commonName 3791C/T CFMDB_510 rnaNtChange deletion of C at 3791 CFMDB_510 commonName 3791delC CFMDB_1335 rnaNtChange Insertion of T at 379- 381 CFMDB_1335 commonName 379- 381insT CFMDB_1230 rnaNtChange deletion of T at 3821- 3823 CFMDB_1230 commonName 3821- 3823del T CFMDB_511 rnaNtChange deletion of T at 3821 CFMDB_511 commonName 3821delT CFMDB_517 rnaNtChange G to A at 3849+ 1 CFMDB_517 commonName 3849+ 1G- >A CFMDB_1319 rnaNtChange A to G at 3849+ 40 CFMDB_1319 commonName 3849+ 40A- >G CFMDB_1320 rnaNtChange G to A at 3849+ 45 CFMDB_1320 commonName 3849+ 45G- >A CFMDB_519 rnaNtChange A to G at 3849+ 4 CFMDB_519 commonName 3849+ 4A- >G CFMDB_847 rnaNtChange G to A at 3849+ 5 CFMDB_847 commonName 3849+ 5G- >A CFMDB_516 rnaNtChange G to A at 3849 CFMDB_516 commonName 3849G- >A CFMDB_520 rnaNtChange G to A at 3850- 1 CFMDB_520 commonName 3850- 1G- >A CFMDB_521 rnaNtChange T to G at 3850- 3 CFMDB_521 commonName 3850- 3T- >G CFMDB_1616 rnaNtChange 3850- 41 C>G CFMDB_1616 commonName 3850- 41C/G CFMDB_741 rnaNtChange T or C at 3850- 79 CFMDB_741 commonName 3850- 79T/C CFMDB_522 rnaNtChange insertion of 31 bp after 3860 CFMDB_522 commonName 3860ins31 CFMDB_788 rnaNtChange A or G at 3867 CFMDB_788 commonName 3867A/G CFMDB_808 rnaNtChange deletion of A at 3876 CFMDB_808 commonName 3876delA CFMDB_1040 rnaNtChange deletion of G at 3878 CFMDB_1040 commonName 3878delG CFMDB_1615 rnaNtChange G or A at 3891 CFMDB_1615 commonName 3891 G/A CFMDB_532 rnaNtChange insertion of C after 3898 CFMDB_532 commonName 3898insC CFMDB_533 rnaNtChange insertion of T after 3905 CFMDB_533 commonName 3905insT CFMDB_534 rnaNtChange insertion of G after 3906 CFMDB_534 commonName 3906insG CFMDB_606 rnaNtChange deletion of 10 bp from 3922 and replacement with 3921 CFMDB_606 commonName 3922del10- >C CFMDB_789 rnaNtChange C or T at 3939 CFMDB_789 commonName 3939C/T CFMDB_839 rnaNtChange deletion of GT from 3944 CFMDB_839 commonName 3944delGT CFMDB_57 rnaNtChange deletion of TT from 394 CFMDB_57 commonName 394delTT CFMDB_1332 rnaNtChange Deletion of A at 3960- 3961 CFMDB_1332 commonName 3960- 3961delA CFMDB_946 rnaNtChange T or G at 4005+ 117 CFMDB_946 commonName 4005+ 117T/G CFMDB_947 rnaNtChange 8T or 6T at 4005+ 121 CFMDB_947 commonName 4005+ 121delTT CFMDB_545 rnaNtChange G to A at 4005+ 1 CFMDB_545 commonName 4005+ 1G- >A CFMDB_948 rnaNtChange 6A or 7A at 4005+ 28 CFMDB_948 commonName 4005+ 28insA CFMDB_1321 rnaNtChange G to C at 4005+ 29 CFMDB_1321 commonName 4005+ 29G- >C CFMDB_756 rnaNtChange T to C at 4005+ 2 CFMDB_756 commonName 4005+ 2T- >C CFMDB_1322 rnaNtChange A to G at 4005+ 33 CFMDB_1322 commonName 4005+ 33A- >G CFMDB_614 rnaNtChange deletion of T at 4006- 103 CFMDB_614 commonName 4006- 103delT CFMDB_1628 rnaNtChange T to G ar 4006- 11 CFMDB_1628 commonName 4006- 11 t>G CFMDB_644 rnaNtChange C to G at 4006- 14 CFMDB_644 commonName 4006- 14C- >G CFMDB_547 rnaNtChange deletion of 3 bp from 4006- 19 CFMDB_547 commonName 4006- 19del3 CFMDB_949 rnaNtChange G or A at 4006- 200 CFMDB_949 commonName 4006- 200G/A CFMDB_1389 rnaNtChange Deletion from 4006- 46 to 4006- 42 CFMDB_1389 commonName 4006- 46delTATTT CFMDB_681 rnaNtChange A to G at 4006- 4 CFMDB_681 commonName 4006- 4A- >G CFMDB_1557 rnaNtChange 4006 - 50 A>C CFMDB_1557 commonName 4006- 50 A/C CFMDB_546 rnaNtChange deletion of 14 bp from 4006- 61 to 4006- 47 CFMDB_546 commonName 4006- 61del14 CFMDB_727 rnaNtChange T to A at 4006- 8 CFMDB_727 commonName 4006- 8T- >A CFMDB_1051 rnaNtChange deletion of A at 4006 CFMDB_1051 commonName 4006delA CFMDB_548 rnaNtChange deletion of TATT from 4010 CFMDB_548 commonName 4010del4 CFMDB_549 rnaNtChange deletion of A at 4015 CFMDB_549 commonName 4015delA CFMDB_550 rnaNtChange insertion of T at 4016 CFMDB_550 commonName 4016insT CFMDB_1417 rnaNtChange insertion of T at 4022 CFMDB_1417 commonName 4022insT CFMDB_791 rnaNtChange A or G at 4029 CFMDB_791 commonName 4029A/G CFMDB_552 rnaNtChange deletion of A at 4040 CFMDB_552 commonName 4040delA CFMDB_1599 rnaNtChange Deletion of nucleotides 4041 to 4046 and insertion of TGT CFMDB_1599 commonName 4041_4046del6insTGT CFMDB_555 rnaNtChange insertion of CC after 4048 CFMDB_555 commonName 4048insCC CFMDB_63 rnaNtChange G to A at 405+ 1 CFMDB_63 commonName 405+ 1G- >A CFMDB_64 rnaNtChange A to C at 405+ 3 CFMDB_64 commonName 405+ 3A- >C CFMDB_840 rnaNtChange A or G at 405+ 42 CFMDB_840 commonName 405+ 42A/G CFMDB_905 rnaNtChange G or T at 405+ 46 CFMDB_905 commonName 405+ 46G/T CFMDB_65 rnaNtChange A to G at 405+ 4 CFMDB_65 commonName 405+ 4A- >G CFMDB_66 rnaNtChange C to G at 406- 10 CFMDB_66 commonName 406- 10C- >G CFMDB_906 rnaNtChange T or A at 406- 112 CFMDB_906 commonName 406- 112T/A CFMDB_1203 rnaNtChange T or C at 406- 13 CFMDB_1203 commonName 406- 13T/C CFMDB_885 rnaNtChange G to A at 406- 1 CFMDB_885 commonName 406- 1G- >A CFMDB_69 rnaNtChange G to C at 406- 1 CFMDB_69 commonName 406- 1G- >C CFMDB_70 rnaNtChange G to T at 406- 1 CFMDB_70 commonName 406- 1G- >T CFMDB_68 rnaNtChange A to C at 406- 2 CFMDB_68 commonName 406- 2A- >C CFMDB_631 rnaNtChange A to G at 406- 2 CFMDB_631 commonName 406- 2A- >G CFMDB_848 rnaNtChange T to C at 406- 3 CFMDB_848 commonName 406- 3T- >C CFMDB_1403 rnaNtChange T to G at 406- 5 CFMDB_1403 commonName 406- 5T- >G CFMDB_67 rnaNtChange T to C at 406- 6 CFMDB_67 commonName 406- 6T- >C CFMDB_1065 rnaNtChange A or G at 406- 83 CFMDB_1065 commonName 406- 83A/G CFMDB_793 rnaNtChange T or C at 4086 CFMDB_793 commonName 4086T/C CFMDB_1601 rnaNtChange 4095+ 1 G>C CFMDB_1601 commonName 4095+ 1G>C CFMDB_1370 rnaNtChange 4095+ 2 T>A CFMDB_1370 commonName 4095+ 2T>A CFMDB_612 rnaNtChange T or C at 4095+ 42 CFMDB_612 commonName 4095+ 42T/C CFMDB_1260 rnaNtChange G to A at 4096- 1 CFMDB_1260 commonName 4096- 1G- >A CFMDB_950 rnaNtChange T or C at 4096- 283 CFMDB_950 commonName 4096- 283T/C CFMDB_684 rnaNtChange G to A at 4096- 28 CFMDB_684 commonName 4096- 28G- >A CFMDB_709 rnaNtChange C to G at 4096- 3 CFMDB_709 commonName 4096- 3C- >G CFMDB_1517 rnaNtChange G to C at 40 CFMDB_1517 commonName 40G/C CFMDB_633 rnaNtChange deletion of T at 4108 CFMDB_633 commonName 4108delT CFMDB_560 rnaNtChange ATA to TT from 4114 CFMDB_560 commonName 4114ATA- >TT CFMDB_636 rnaNtChange deletion of ACCAAAG from 412 and insertion of TA CFMDB_636 commonName 412del7- >TA CFMDB_1484 rnaNtChange Deletion of CTAAGCC at 4168 CFMDB_1484 commonName 4168delCTAAGCC CFMDB_1602 rnaNtChange insertion of A at 4171 CFMDB_1602 commonName 4171insA CFMDB_561 rnaNtChange deletion of GC from 4172 CFMDB_561 commonName 4172delGC CFMDB_562 rnaNtChange deletion of C at 4173 CFMDB_562 commonName 4173delC CFMDB_1202 rnaNtChange TAG to AA at 4203 CFMDB_1202 commonName 4203TAG- >AA CFMDB_1472 rnaNtChange TGTT to AA from 4209 CFMDB_1472 commonName 4209TGTT- >AA CFMDB_565 rnaNtChange insertion of T after 4218 CFMDB_565 commonName 4218insT CFMDB_1037 rnaNtChange A to G at 4269- 108 CFMDB_1037 commonName 4269- 108A- >G CFMDB_621 rnaNtChange G or A at 4269- 139 CFMDB_621 commonName 4269- 139G/A CFMDB_569 rnaNtChange deletion of C at 4271 CFMDB_569 commonName 4271delC CFMDB_1452 rnaNtChange Deletion of nucleotide A at 4272 position CFMDB_1452 commonName 4272delA CFMDB_570 rnaNtChange insertion of A after 4279 CFMDB_570 commonName 4279insA CFMDB_573 rnaNtChange deletion of TC from 4326 CFMDB_573 commonName 4326delTC CFMDB_1111 rnaNtChange deletion of TG at 4332 CFMDB_1111 commonName 4332delTG CFMDB_794 rnaNtChange G or A at 4356 CFMDB_794 commonName 4356G/A CFMDB_76 rnaNtChange insertion of A after 435 CFMDB_76 commonName 435insA CFMDB_917 rnaNtChange T to C at 4374+ 10 CFMDB_917 commonName 4374+ 10T- >C CFMDB_951 rnaNtChange A or G at 4374+ 13 CFMDB_951 commonName 4374+ 13A/G CFMDB_952 rnaNtChange A or G at 4374+ 14 CFMDB_952 commonName 4374+ 14A/G CFMDB_576 rnaNtChange G to A at 4374+ 1 CFMDB_576 commonName 4374+ 1G- >A CFMDB_577 rnaNtChange G to T at 4374+ 1 CFMDB_577 commonName 4374+ 1G- >T CFMDB_1604 rnaNtChange 4374_4374+ 1GG>TT CFMDB_1604 commonName 4374_4374+ 1GG>TT CFMDB_953 rnaNtChange C or T at 4375- 15 CFMDB_953 commonName 4375- 15C/T CFMDB_1038 rnaNtChange G to C at 4375- 1 CFMDB_1038 commonName 4375- 1G- >C CFMDB_1204 rnaNtChange deletion of T at 375- 36 CFMDB_1204 commonName 4375- 36delT CFMDB_578 rnaNtChange deletion of A at 4382 CFMDB_578 commonName 4382delA CFMDB_795 rnaNtChange C or T at 4404 CFMDB_795 commonName 4404C/T CFMDB_78 rnaNtChange deletion of A at 441 and T to A at 486 CFMDB_78 commonName 441delA CFMDB_846 rnaNtChange insertion of GA after 4428 CFMDB_846 commonName 4428insGA CFMDB_79 rnaNtChange deletion of A at 444 CFMDB_79 commonName 444delA CFMDB_1556 rnaNtChange C to T at 4464 CFMDB_1556 commonName 4464 C/T CFMDB_735 rnaNtChange deletion of GCTTCCTA from 451 CFMDB_735 commonName 451del8 CFMDB_796 rnaNtChange G or A at 4521 CFMDB_796 commonName 4521G/A CFMDB_1550 rnaNtChange G to A at 4557 CFMDB_1550 commonName 4557 G/A CFMDB_1162 rnaNtChange T or C at 4563 CFMDB_1162 commonName 4563T/C CFMDB_1324 rnaNtChange G to A at 4575+ 2 CFMDB_1324 commonName 4575+ 2G- >A CFMDB_81 rnaNtChange TAT to G at 457 CFMDB_81 commonName 457TAT- >G CFMDB_863 rnaNtChange deletion of AT at 458 CFMDB_863 commonName 458delAT CFMDB_83 rnaNtChange deletion of G at 460 CFMDB_83 commonName 460delG CFMDB_1410 rnaNtChange A to G at - 461 CFMDB_1410 commonName - 461A- >G CFMDB_1039 rnaNtChange T to G at 4655 CFMDB_1039 commonName 4655T- >G CFMDB_1062 rnaNtChange G or A at 465 CFMDB_1062 commonName 465G/A CFMDB_1552 rnaNtChange C to T at 489 CFMDB_1552 commonName 489 C/T CFMDB_1423 rnaNtChange deletion of C at 489 CFMDB_1423 commonName 489delC CFMDB_1109 rnaNtChange C or G at 48 CFMDB_1109 commonName 48C/G CFMDB_1005 rnaNtChange G or A at 492 CFMDB_1005 commonName 492G/A CFMDB_1447 rnaNtChange T deleted CFMDB_1447 commonName 519delT CFMDB_857 rnaNtChange deletion of T at 525 CFMDB_857 commonName 525delT CFMDB_97 rnaNtChange deletion of CTCC from 541 CFMDB_97 commonName 541del4 CFMDB_96 rnaNtChange deletion of C at 541 CFMDB_96 commonName 541delC CFMDB_1006 rnaNtChange T or C at 545 CFMDB_1006 commonName 545T/C CFMDB_1118 rnaNtChange insertion of CTA at 546 CFMDB_1118 commonName 546insCTA CFMDB_1589 rnaNtChange insertion of GA between nucleotides 547 and 548 CFMDB_1589 commonName 547insGA CFMDB_650 rnaNtChange insertion of TA after 547 CFMDB_650 commonName 547insTA CFMDB_711 rnaNtChange C to T at 549 CFMDB_711 commonName 549C/T CFMDB_100 rnaNtChange insertion of A after 552 CFMDB_100 commonName 552insA CFMDB_102 rnaNtChange deletion of A at 556 CFMDB_102 commonName 556delA CFMDB_103 rnaNtChange deletion of T at 557 CFMDB_103 commonName 557delT CFMDB_600 rnaNtChange deletion of C at 565 CFMDB_600 commonName 565delC CFMDB_104 rnaNtChange deletion of A at 574 CFMDB_104 commonName 574delA CFMDB_1295 rnaNtChange Insert CTA at 576 CFMDB_1295 commonName 576InsCTA CFMDB_109 rnaNtChange deletion of 18 bp from 591 CFMDB_109 commonName 591del18 CFMDB_110 rnaNtChange insertion of T after 605 CFMDB_110 commonName 605insT CFMDB_112 rnaNtChange G to T at 621+ 1 CFMDB_112 commonName 621+ 1G- >T CFMDB_113 rnaNtChange T to C at 621+ 2 CFMDB_113 commonName 621+ 2T- >C CFMDB_114 rnaNtChange T to G at 621+ 2 CFMDB_114 commonName 621+ 2T- >G CFMDB_1061 rnaNtChange C or G at 621+ 31 CFMDB_1061 commonName 621+ 31C/G CFMDB_836 rnaNtChange A to G at 621+ 3 CFMDB_836 commonName 621+ 3A- >G CFMDB_111 rnaNtChange G to A at 621 CFMDB_111 commonName 621G- >A CFMDB_822 rnaNtChange A or G at 622- 103 CFMDB_822 commonName 622- 103A/G CFMDB_986 rnaNtChange A or G at 622- 116 CFMDB_986 commonName 622- 116A/G CFMDB_988 rnaNtChange G or C at 622- 152 CFMDB_988 commonName 622- 152G/C CFMDB_116 rnaNtChange G to A at 622- 1 CFMDB_116 commonName 622- 1G- >A CFMDB_115 rnaNtChange A to C at 622- 2 CFMDB_115 commonName 622- 2A- >C CFMDB_1420 rnaNtChange A to G at 622- 2 CFMDB_1420 commonName 622- 2A- >G CFMDB_117 rnaNtChange deletion of T at 624 CFMDB_117 commonName 624delT CFMDB_122 rnaNtChange deletion of A at 657 CFMDB_122 commonName 657delA CFMDB_888 rnaNtChange deletion of T at 663 CFMDB_888 commonName 663delT CFMDB_823 rnaNtChange deletion of TAGT from 675 CFMDB_823 commonName 675del4 CFMDB_1008 rnaNtChange A or G at 676 CFMDB_1008 commonName 676A/G CFMDB_124 rnaNtChange deletion of C at 681 CFMDB_124 commonName 681delC CFMDB_130 rnaNtChange G to T at 711+ 1 CFMDB_130 commonName 711+ 1G- >T CFMDB_653 rnaNtChange A to G at 711+ 34 CFMDB_653 commonName 711+ 34A- >G CFMDB_131 rnaNtChange A to C at 711+ 3 CFMDB_131 commonName 711+ 3A- >C CFMDB_132 rnaNtChange A to G at 711+ 3 CFMDB_132 commonName 711+ 3A- >G CFMDB_133 rnaNtChange A to T at 711+ 3 CFMDB_133 commonName 711+ 3A- >T CFMDB_134 rnaNtChange G to A at 711+ 5 CFMDB_134 commonName 711+ 5G- >A CFMDB_135 rnaNtChange G to T at 712- 1 CFMDB_135 commonName 712- 1G- >T CFMDB_691 rnaNtChange T or A at 712- 92 CFMDB_691 commonName 712- 92T/A CFMDB_1009 rnaNtChange C or T at 741 CFMDB_1009 commonName 741C/T CFMDB_974 rnaNtChange A or G at 759 CFMDB_974 commonName 759A/G (A209A)) CFMDB_1449 rnaNtChange G to A at 795 CFMDB_1449 commonName 795G/A CFMDB_720 rnaNtChange T or G at - 834 CFMDB_720 commonName - 834T/G CFMDB_147 rnaNtChange deletion of 22 bp from 852 CFMDB_147 commonName 852del22 CFMDB_1010 rnaNtChange C or T at 873 CFMDB_1010 commonName 873C/T CFMDB_1503 rnaNtChange Insertion of 4 bp (TACA) at 874 CFMDB_1503 commonName 874Ins TACA CFMDB_150 rnaNtChange G to A at 875+ 1 CFMDB_150 commonName 875+ 1G- >A CFMDB_151 rnaNtChange G to C at 875+ 1 CFMDB_151 commonName 875+ 1G- >C CFMDB_909 rnaNtChange A or G at 875+ 40 CFMDB_909 commonName 875+ 40A/G CFMDB_153 rnaNtChange deletion of 8 bp from 876- 10 CFMDB_153 commonName 876- 10del8 CFMDB_152 rnaNtChange deletion of 12 bp from 876- 14 CFMDB_152 commonName 876- 14del12 CFMDB_1036 rnaNtChange C to T at 876- 3 CFMDB_1036 commonName 876- 3C- >T CFMDB_1571 rnaNtChange 876 - 8 A>C CFMDB_1571 commonName 876- 8 A- >C CFMDB_155 rnaNtChange deletion of G at 905 CFMDB_155 commonName 905delG CFMDB_968 rnaNtChange deletion of A at 935 CFMDB_968 commonName 935delA CFMDB_157 rnaNtChange deletion of TA from 936 CFMDB_157 commonName 936delTA CFMDB_815 rnaNtChange G to T at - 94 CFMDB_815 commonName - 94G- >T CFMDB_159 rnaNtChange insertion of A after 977 CFMDB_159 commonName 977insA CFMDB_1281 rnaNtChange Insertion of A at 989- 992 CFMDB_1281 commonName 989- 992insA CFMDB_654 rnaNtChange deletion AACTT from 991 or CTTAA from 993 CFMDB_654 commonName 991del5 CFMDB_856 rnaNtChange deletion of TTAAGACAG from 994 CFMDB_856 commonName 994del9 CFMDB_1107 rnaNtChange C or T at 99 CFMDB_1107 commonName 99C/T CFMDB_427 protEffect A1006E CFMDB_427 commonName A1006E CFMDB_1101 protEffect A1009T CFMDB_1101 commonName A1009T CFMDB_1385 protEffect A1025D CFMDB_1385 commonName A1025D CFMDB_1200 protEffect A1067D CFMDB_1200 commonName A1067D CFMDB_1450 protEffect A1067G CFMDB_1450 commonName A1067G CFMDB_1631 protEffect A1067P CFMDB_1631 commonName A1067P CFMDB_452 protEffect A1067T CFMDB_452 commonName A1067T CFMDB_778 protEffect A1067V CFMDB_778 commonName A1067V CFMDB_1629 protEffect A107G CFMDB_1629 commonName A107G CFMDB_1212 protEffect A1081P CFMDB_1212 commonName A1081P CFMDB_1468 protEffect A1087P CFMDB_1468 commonName A1087P CFMDB_1167 protEffect A1136T CFMDB_1167 commonName A1136T CFMDB_92 protEffect A120T CFMDB_92 commonName A120T CFMDB_1278 protEffect A120V CFMDB_1278 commonName A120V CFMDB_566 protEffect A1364V CFMDB_566 commonName A1364V CFMDB_101 protEffect A141D CFMDB_101 commonName A141D CFMDB_843 protEffect A155P CFMDB_843 commonName A155P CFMDB_1068 protEffect A198P CFMDB_1068 commonName A198P CFMDB_942 protEffect A209S CFMDB_942 commonName A209S CFMDB_1537 protEffect A238V CFMDB_1537 commonName A238V CFMDB_1144 protEffect A299T CFMDB_1144 commonName A299T CFMDB_859 protEffect A309A (1059C/G) CFMDB_859 commonName A309A (1059C/G) CFMDB_166 protEffect A309D CFMDB_166 commonName A309D CFMDB_656 protEffect A309G CFMDB_656 commonName A309G CFMDB_1300 protEffect A309T CFMDB_1300 commonName A309T CFMDB_1301 protEffect A309V CFMDB_1301 commonName A309V CFMDB_195 protEffect A349V CFMDB_195 commonName A349V CFMDB_1273 protEffect A399D CFMDB_1273 commonName A399D CFMDB_1083 protEffect A399V CFMDB_1083 commonName A399V CFMDB_222 protEffect A455E CFMDB_222 commonName A455E CFMDB_29 protEffect A46D CFMDB_29 commonName A46D CFMDB_256 protEffect A534E CFMDB_256 commonName A534E CFMDB_1191 protEffect A559E CFMDB_1191 commonName A559E CFMDB_278 protEffect A559T CFMDB_278 commonName A559T CFMDB_1592 protEffect A559V CFMDB_1592 commonName A559V CFMDB_286 protEffect A561E CFMDB_286 commonName A561E CFMDB_1338 protEffect A566T CFMDB_1338 commonName A566T CFMDB_667 protEffect A613T CFMDB_667 commonName A613T CFMDB_648 protEffect A72D CFMDB_648 commonName A72D CFMDB_1045 protEffect A72T CFMDB_1045 commonName A72T CFMDB_360 protEffect A800G CFMDB_360 commonName A800G CFMDB_1345 protEffect A959V CFMDB_1345 commonName A959V CFMDB_1134 protEffect A96E CFMDB_1134 commonName A96E CFMDB_142 protEffect C225R CFMDB_142 commonName C225R CFMDB_646 protEffect C225X CFMDB_646 commonName C225X CFMDB_158 protEffect C276X CFMDB_158 commonName C276X CFMDB_722 protEffect C491R CFMDB_722 commonName C491R CFMDB_250 protEffect C524X CFMDB_250 commonName C524X CFMDB_1436 protEffect C866R CFMDB_1436 commonName C866R CFMDB_1444 protEffect C866S CFMDB_1444 commonName C866S CFMDB_377 protEffect C866Y CFMDB_377 commonName C866Y CFMDB_581 protEffect CFTR40kbdel CFMDB_581 commonName CFTR40kbdel CFMDB_688 protEffect CFTR40kbdel(?) CFMDB_688 commonName CFTR40kbdel(?) CFMDB_1429 protEffect CFTRdele1- 24 CFMDB_1429 commonName CFTRdele1- 24 CFMDB_689 protEffect CFTRdele14a CFMDB_689 commonName CFTRdele14a CFMDB_1369 protEffect CFTRdele14b- 17b CFMDB_1369 commonName CFTRdele14b- 17b CFMDB_642 protEffect CFTRdele14b- 18 CFMDB_642 commonName CFTRdele14b- 18 CFMDB_1106 protEffect CFTRdele16- 17b CFMDB_1106 commonName CFTRdele16- 17b CFMDB_1085 protEffect CFTRdele17b18 CFMDB_1085 commonName CFTRdele17b18 CFMDB_1205 protEffect CFTRdele19 CFMDB_1205 commonName CFTRdele19 CFMDB_686 protEffect CFTRdele2 CFMDB_686 commonName CFTRdele2 CFMDB_1086 protEffect CFTRdele21 CFMDB_1086 commonName CFTRdele21 CFMDB_1105 protEffect CFTRdele2- 10 CFMDB_1105 commonName CFTRdele2- 10 CFMDB_687 protEffect CFTRdele2, 3 CFMDB_687 commonName CFTRdele2, 3 CFMDB_1607 protEffect CFTRdup10_18 CFMDB_1607 commonName CFTRdup10_18 CFMDB_1606 protEffect CFTRdup11_13 CFMDB_1606 commonName CFTRdup11_13 CFMDB_1407 protEffect CFTRdup4- 8 CFMDB_1407 commonName CFTRdup4- 8 CFMDB_1097 protEffect D110E CFMDB_1097 commonName D110E CFMDB_84 protEffect D110H CFMDB_84 commonName D110H CFMDB_1290 protEffect D110N CFMDB_1290 commonName D110N CFMDB_1124 protEffect D110Y CFMDB_1124 commonName D110Y CFMDB_485 protEffect D1152H CFMDB_485 commonName D1152H CFMDB_486 protEffect D1154G CFMDB_486 commonName D1154G CFMDB_494 protEffect D1168G CFMDB_494 commonName D1168G CFMDB_537 protEffect D1270N VAR_009115 comment in WFS CFMDB_537 commonName D1270N CFMDB_1475 protEffect D1270Y CFMDB_1475 commonName D1270Y CFMDB_738 protEffect D1305E CFMDB_738 commonName D1305E CFMDB_568 protEffect D1377H CFMDB_568 commonName D1377H CFMDB_629 protEffect D1445N CFMDB_629 commonName D1445N CFMDB_126 protEffect D192G CFMDB_126 commonName D192G CFMDB_125 protEffect D192N CFMDB_125 commonName D192N CFMDB_1348 protEffect D36N CFMDB_1348 commonName D36N CFMDB_1576 protEffect D373E CFMDB_1576 commonName D373E CFMDB_218 protEffect D443Y CFMDB_218 commonName D443Y CFMDB_28 protEffect D44G CFMDB_28 commonName D44G CFMDB_818 protEffect D513G CFMDB_818 commonName D513G CFMDB_1642 protEffect D529G CFMDB_1642 commonName D529G CFMDB_1139 protEffect D529H CFMDB_1139 commonName D529H CFMDB_1291 protEffect D537E CFMDB_1291 commonName D537E CFMDB_1267 protEffect D565G CFMDB_1267 commonName D565G CFMDB_299 protEffect D572N CFMDB_299 commonName D572N CFMDB_210 protEffect D579A CFMDB_210 commonName D579A CFMDB_304 protEffect D579G CFMDB_304 commonName D579G CFMDB_303 protEffect D579Y CFMDB_303 commonName D579Y CFMDB_1119 protEffect D58G CFMDB_1119 commonName D58G CFMDB_625 protEffect D58N CFMDB_625 commonName D58N CFMDB_320 protEffect D614G CFMDB_320 commonName D614G CFMDB_1193 protEffect D614Y CFMDB_1193 commonName D614Y CFMDB_1270 protEffect D639Y CFMDB_1270 commonName D639Y CFMDB_1259 protEffect D651H CFMDB_1259 commonName D651H CFMDB_961 protEffect D651N CFMDB_961 commonName D651N CFMDB_1534 protEffect D674V CFMDB_1534 commonName D674V CFMDB_1585 protEffect D806G CFMDB_1585 commonName D806G CFMDB_1308 protEffect D828G CFMDB_1308 commonName D828G CFMDB_371 protEffect D836Y CFMDB_371 commonName D836Y CFMDB_886 protEffect D891G CFMDB_886 commonName D891G CFMDB_1199 protEffect D924N CFMDB_1199 commonName D924N CFMDB_673 protEffect D979A CFMDB_673 commonName D979A CFMDB_674 protEffect D979V CFMDB_674 commonName D979V CFMDB_880 protEffect D985H CFMDB_880 commonName D985H CFMDB_415 protEffect D985Y CFMDB_415 commonName D985Y CFMDB_1634 protEffect D993G CFMDB_1634 commonName D993G CFMDB_417 protEffect D993Y CFMDB_417 commonName D993Y CFMDB_1605 rnaNtChange 185+ 2909_1002- 1620del55429ins17 ((insertion of GTACTCAACAGCTCTAG) CFMDB_1605 commonName delEx2- 6b CFMDB_1457 protEffect Del exon 17a- 17b CFMDB_1457 commonName Del exon 17a- 17b CFMDB_1456 protEffect Del exon 17a- 17b- 18 CFMDB_1456 commonName Del exon 17a- 17b- 18 CFMDB_1458 protEffect Del exon 22- 23 CFMDB_1458 commonName Del exon 22- 23 CFMDB_1455 protEffect Del exon 22- 24 CFMDB_1455 commonName Del exon 22- 24 CFMDB_1460 protEffect Del exon 2- 3 CFMDB_1460 commonName Del exon 2- 3 CFMDB_1459 protEffect Del exon 4- 6a CFMDB_1459 commonName Del exon 4- 6a CFMDB_1454 protEffect Del Pr- Ex1 CFMDB_1454 commonName Del Pr- Ex1 CFMDB_1453 protEffect Del Pr- Ex1- Ex2 CFMDB_1453 commonName Del Pr- Ex1- Ex2 CFMDB_127 rnaNtChange deletion of TGA or GAT from 706 or 707 CFMDB_127 commonName [delta]D192 CFMDB_86 rnaNtChange 3 bp deletion of 475- 477 CFMDB_86 commonName [delta]E115 CFMDB_168 rnaNtChange deletion of 3 bp between 1059 and 1069 CFMDB_168 commonName [delta]F311 CFMDB_246 rnaNtChange deletion of 3 bp between 1652 and 1655 CFMDB_246 commonName [delta]F508 CFMDB_245 rnaNtChange deletion of 3 bp between 1648 and 1653 CFMDB_245 commonName [delta]I507 CFMDB_535 rnaNtChange deletion of ACT from either 3909 or 3912 CFMDB_535 commonName [delta]L1260 CFMDB_221 rnaNtChange deletion of 3 bp between 1488 and 1494 CFMDB_221 commonName [delta]L453 CFMDB_482 rnaNtChange deletion of 3 bp between 3550 and 3553 CFMDB_482 commonName [delta]M1140 CFMDB_1587 rnaNtChange deletion of 3 bp between 1148 and 1150 CFMDB_1587 commonName [delta]T339 CFMDB_924 rnaNtChange duplication of 11 bp at 1716+ 51 CFMDB_924 commonName dup1716+ 51- >61 CFMDB_473 protEffect E1104X CFMDB_473 commonName E1104X CFMDB_804 protEffect E1123del CFMDB_804 commonName E1123del CFMDB_87 protEffect E116K CFMDB_87 commonName E116K CFMDB_1116 protEffect E116Q CFMDB_1116 commonName E116Q CFMDB_1084 protEffect E1228G CFMDB_1084 commonName E1228G CFMDB_719 protEffect E1308X CFMDB_719 commonName E1308X CFMDB_559 protEffect E1321Q CFMDB_559 commonName E1321Q CFMDB_567 protEffect E1371X CFMDB_567 commonName E1371X CFMDB_1603 protEffect E1401G CFMDB_1603 commonName E1401G CFMDB_1514 protEffect E1401K CFMDB_1514 commonName E1401K CFMDB_854 protEffect E1401X CFMDB_854 commonName E1401X CFMDB_1364 protEffect E1409K CFMDB_1364 commonName E1409K CFMDB_572 protEffect E1409V CFMDB_572 commonName E1409V CFMDB_1428 protEffect E1418X CFMDB_1428 commonName E1418X CFMDB_1341 protEffect E1473X CFMDB_1341 commonName E1473X CFMDB_128 protEffect E193K CFMDB_128 commonName E193K CFMDB_129 protEffect E193X CFMDB_129 commonName E193X CFMDB_844 protEffect E217G CFMDB_844 commonName E217G CFMDB_762 protEffect E278del CFMDB_762 commonName E278del CFMDB_1539 protEffect E279D CFMDB_1539 commonName E279D CFMDB_655 protEffect E292K CFMDB_655 commonName E292K CFMDB_1225 protEffect E379K CFMDB_1225 commonName E379K CFMDB_1129 protEffect E379X CFMDB_1129 commonName E379X CFMDB_1148 protEffect E403D CFMDB_1148 commonName E403D CFMDB_994 protEffect E407V CFMDB_994 commonName E407V CFMDB_1189 protEffect E474K CFMDB_1189 commonName E474K CFMDB_1633 protEffect E479X CFMDB_1633 commonName E479X CFMDB_242 protEffect E504Q CFMDB_242 commonName E504Q CFMDB_724 protEffect E504X CFMDB_724 commonName E504X CFMDB_964 protEffect E527G CFMDB_964 commonName E527G CFMDB_817 protEffect E527Q CFMDB_817 commonName E527Q CFMDB_1190 protEffect E528D CFMDB_1190 commonName E528D CFMDB_624 protEffect E56K CFMDB_624 commonName E56K CFMDB_308 protEffect E585X CFMDB_308 commonName E585X CFMDB_1471 protEffect E588V CFMDB_1471 commonName E588V CFMDB_1257 protEffect E608G CFMDB_1257 commonName E608G CFMDB_1123 protEffect E60K CFMDB_1123 commonName E60K CFMDB_44 protEffect E60X CFMDB_44 commonName E60X CFMDB_761 protEffect E656X CFMDB_761 commonName E656X CFMDB_332 protEffect E664X CFMDB_332 commonName E664X CFMDB_714 protEffect E672del CFMDB_714 commonName E672del CFMDB_342 protEffect E692X CFMDB_342 commonName E692X CFMDB_799 protEffect E725K CFMDB_799 commonName E725K CFMDB_349 protEffect E730X CFMDB_349 commonName E730X CFMDB_1280 protEffect E7X CFMDB_1280 commonName E7X CFMDB_363 protEffect E822K CFMDB_363 commonName E822K CFMDB_364 protEffect E822X CFMDB_364 commonName E822X CFMDB_800 protEffect E823X CFMDB_800 commonName E823X CFMDB_366 protEffect E826K CFMDB_366 commonName E826K CFMDB_367 protEffect E827X CFMDB_367 commonName E827X CFMDB_370 protEffect E831X CFMDB_370 commonName E831X CFMDB_1422 protEffect E92D CFMDB_1422 commonName E92D CFMDB_71 protEffect E92K CFMDB_71 commonName E92K CFMDB_72 protEffect E92X CFMDB_72 commonName E92X CFMDB_1398 protEffect F1016S CFMDB_1398 commonName F1016S CFMDB_438 protEffect F1052V CFMDB_438 commonName F1052V CFMDB_457 protEffect F1074L CFMDB_457 commonName F1074L CFMDB_1366 protEffect F1166C CFMDB_1366 commonName F1166C CFMDB_899 protEffect F1257L CFMDB_899 commonName F1257L CFMDB_542 protEffect F1286S CFMDB_542 commonName F1286S CFMDB_645 protEffect F1300L CFMDB_645 commonName F1300L CFMDB_819 protEffect F1337V CFMDB_819 commonName F1337V CFMDB_1224 protEffect F200I CFMDB_1224 commonName F200I CFMDB_1516 protEffect F305V CFMDB_1516 commonName F305V CFMDB_169 protEffect F311L CFMDB_169 commonName F311L CFMDB_1163 protEffect F316L CFMDB_1163 commonName F316L CFMDB_1024 protEffect F508C CFMDB_1024 commonName F508C CFMDB_1138 protEffect F508S CFMDB_1138 commonName F508S CFMDB_1394 protEffect F587I CFMDB_1394 commonName F587I CFMDB_343 protEffect F693L(CTT) CFMDB_343 commonName F693L(CTT) CFMDB_1209 protEffect F693L(TTG) CFMDB_1209 commonName F693L(TTG) CFMDB_58 protEffect F87L CFMDB_58 commonName F87L CFMDB_1156 protEffect F932S CFMDB_1156 commonName F932S CFMDB_797 protEffect F994C CFMDB_797 commonName F994C CFMDB_1166 protEffect G1003X CFMDB_1166 commonName G1003X CFMDB_77 protEffect G103X CFMDB_77 commonName G103X CFMDB_675 protEffect G1047D CFMDB_675 commonName G1047D CFMDB_1314 protEffect G1047R CFMDB_1314 commonName G1047R CFMDB_443 protEffect G1061R CFMDB_443 commonName G1061R CFMDB_453 protEffect G1069R CFMDB_453 commonName G1069R CFMDB_475 protEffect G1123R CFMDB_475 commonName G1123R CFMDB_477 protEffect G1127E CFMDB_477 commonName G1127E CFMDB_1218 protEffect G1130A CFMDB_1218 commonName G1130A CFMDB_1127 protEffect G1237S CFMDB_1127 commonName G1237S CFMDB_523 protEffect G1244E CFMDB_523 commonName G1244E CFMDB_1481 protEffect G1244R CFMDB_1481 commonName G1244R CFMDB_524 protEffect G1244V CFMDB_524 commonName G1244V CFMDB_599 protEffect G1247R(G- >A) CFMDB_599 commonName G1247R(G- >A) CFMDB_1490 protEffect G1247R(G- >C) CFMDB_1490 commonName G1247R(G- >C) CFMDB_527 protEffect G1249E CFMDB_527 commonName G1249E CFMDB_526 protEffect G1249R CFMDB_526 commonName G1249R CFMDB_94 protEffect G126D CFMDB_94 commonName G126D CFMDB_563 protEffect G1349D CFMDB_563 commonName G1349D CFMDB_998 protEffect G1349S CFMDB_998 commonName G1349S CFMDB_106 protEffect G149R CFMDB_106 commonName G149R CFMDB_1521 protEffect G149V CFMDB_1521 commonName G149V CFMDB_1441 protEffect G178E CFMDB_1441 commonName G178E CFMDB_123 protEffect G178R CFMDB_123 commonName G178R CFMDB_1487 protEffect G194R CFMDB_1487 commonName G194R CFMDB_1135 protEffect G194V CFMDB_1135 commonName G194V CFMDB_1298 protEffect G213V CFMDB_1298 commonName G213V CFMDB_146 protEffect G239R CFMDB_146 commonName G239R CFMDB_635 protEffect G241R CFMDB_635 commonName G241R CFMDB_21 protEffect G27E CFMDB_21 commonName G27E CFMDB_1419 protEffect G27R CFMDB_1419 commonName G27R CFMDB_1463 protEffect G27R(211G to C) CFMDB_1463 commonName G27R(211G to C) CFMDB_20 protEffect G27X CFMDB_20 commonName G27X CFMDB_171 protEffect G314E CFMDB_171 commonName G314E CFMDB_170 protEffect G314R CFMDB_170 commonName G314R CFMDB_737 protEffect G314V CFMDB_737 commonName G314V CFMDB_179 protEffect G330X CFMDB_179 commonName G330X CFMDB_1087 protEffect G424S CFMDB_1087 commonName G424S CFMDB_225 protEffect G458V CFMDB_225 commonName G458V CFMDB_231 protEffect G480C CFMDB_231 commonName G480C CFMDB_232 protEffect G480D CFMDB_232 commonName G480D CFMDB_1020 protEffect G480G (1572T/C) CFMDB_1020 commonName G480G (1572T/C) CFMDB_1210 protEffect G480S CFMDB_1210 commonName G480S CFMDB_234 protEffect G486X CFMDB_234 commonName G486X CFMDB_258 protEffect G542X CFMDB_258 commonName G542X CFMDB_259 protEffect G544S CFMDB_259 commonName G544S CFMDB_603 protEffect G544V CFMDB_603 commonName G544V CFMDB_265 protEffect G550R CFMDB_265 commonName G550R CFMDB_266 protEffect G550X CFMDB_266 commonName G550X CFMDB_269 protEffect G551D CFMDB_269 commonName G551D CFMDB_268 protEffect G551S CFMDB_268 commonName G551S CFMDB_590 protEffect G576A CFMDB_590 commonName G576A CFMDB_301 protEffect G576X CFMDB_301 commonName G576X CFMDB_669 protEffect G622D CFMDB_669 commonName G622D CFMDB_324 protEffect G628R(G- >A) CFMDB_324 commonName G628R(G- >A) CFMDB_325 protEffect G628R(G- >C) CFMDB_325 commonName G628R(G- >C) CFMDB_336 protEffect G673X CFMDB_336 commonName G673X CFMDB_1306 protEffect G723V CFMDB_1306 commonName G723V CFMDB_1461 protEffect G745X(Gly745X) CFMDB_1461 commonName G745X(Gly745X) CFMDB_55 protEffect G85E CFMDB_55 commonName G85E CFMDB_56 protEffect G85V CFMDB_56 commonName G85V CFMDB_62 protEffect G91R CFMDB_62 commonName G91R CFMDB_734 protEffect G970D CFMDB_734 commonName G970D CFMDB_409 protEffect G970R CFMDB_409 commonName G970R CFMDB_1619 protEffect G970S CFMDB_1619 commonName G970S CFMDB_439 protEffect H1054D CFMDB_439 commonName H1054D CFMDB_1523 protEffect H1054 L CFMDB_1523 commonName H1054 L CFMDB_1577 protEffect H1054R CFMDB_1577 commonName H1054R CFMDB_1474 protEffect H1079P CFMDB_1474 commonName H1079P CFMDB_460 protEffect H1085R CFMDB_460 commonName H1085R CFMDB_1491 protEffect H1375P CFMDB_1491 commonName H1375P CFMDB_1217 protEffect H139L CFMDB_1217 commonName H139L CFMDB_98 protEffect H139R CFMDB_98 commonName H139R CFMDB_651 protEffect H146R CFMDB_651 commonName H146R CFMDB_137 protEffect H199Q CFMDB_137 commonName H199Q CFMDB_1296 protEffect H199R CFMDB_1296 commonName H199R CFMDB_136 protEffect H199Y CFMDB_136 commonName H199Y CFMDB_966 protEffect H484R CFMDB_966 commonName H484R CFMDB_723 protEffect H484Y CFMDB_723 commonName H484Y CFMDB_1536 protEffect H609L CFMDB_1536 commonName H609L CFMDB_754 protEffect H609R CFMDB_754 commonName H609R CFMDB_323 protEffect H620P CFMDB_323 commonName H620P CFMDB_668 protEffect H620Q CFMDB_668 commonName H620Q CFMDB_402 protEffect H939D CFMDB_402 commonName H939D CFMDB_707 protEffect H939R CFMDB_707 commonName H939R CFMDB_1489 protEffect H949L CFMDB_1489 commonName H949L CFMDB_405 protEffect H949R CFMDB_405 commonName H949R CFMDB_404 protEffect H949Y CFMDB_404 commonName H949Y CFMDB_426 protEffect I1005R CFMDB_426 commonName I1005R CFMDB_1567 protEffect I1027T CFMDB_1567 commonName I1027T CFMDB_1397 protEffect I1051V CFMDB_1397 commonName I1051V CFMDB_1108 protEffect I105N CFMDB_1108 commonName I105N CFMDB_481 protEffect I1139V CFMDB_481 commonName I1139V CFMDB_1231 protEffect I119V CFMDB_1231 commonName I119V CFMDB_728 protEffect I1230T CFMDB_728 commonName I1230T CFMDB_628 protEffect I1234L CFMDB_628 commonName I1234L CFMDB_512 protEffect I1234V CFMDB_512 commonName I1234V CFMDB_882 protEffect I125T CFMDB_882 commonName I125T CFMDB_536 protEffect I1269N CFMDB_536 commonName I1269N CFMDB_739 protEffect I132M CFMDB_739 commonName I132M CFMDB_1160 protEffect I1366T CFMDB_1160 commonName I1366T CFMDB_1479 protEffect I1398S CFMDB_1479 commonName I1398S CFMDB_601 protEffect I148N CFMDB_601 commonName I148N CFMDB_105 protEffect I148T CFMDB_105 commonName I148T CFMDB_121 protEffect I175V CFMDB_121 commonName I175V CFMDB_652 protEffect I177T CFMDB_652 commonName I177T CFMDB_1438 protEffect I203M CFMDB_1438 commonName I203M CFMDB_1506 protEffect I285F CFMDB_1506 commonName I285F CFMDB_183 protEffect I336K CFMDB_183 commonName I336K CFMDB_1302 protEffect I340N CFMDB_1302 commonName I340N CFMDB_995 protEffect I444S CFMDB_995 commonName I444S CFMDB_1638 protEffect I444T CFMDB_1638 commonName I444T CFMDB_1326 protEffect I497V CFMDB_1326 commonName I497V CFMDB_1223 protEffect I502N CFMDB_1223 commonName I502N CFMDB_726 protEffect I502T CFMDB_726 commonName I502T CFMDB_851 protEffect I506L CFMDB_851 commonName I506L CFMDB_243 protEffect I506S CFMDB_243 commonName I506S CFMDB_244 protEffect I506T CFMDB_244 commonName I506T CFMDB_1021 protEffect I506V (1648A/G) CFMDB_1021 commonName I506V (1648A/G) CFMDB_257 protEffect I539T CFMDB_257 commonName I539T CFMDB_275 protEffect I556V CFMDB_275 commonName I556V CFMDB_1578 protEffect I586V CFMDB_1578 commonName I586V CFMDB_666 protEffect I601F CFMDB_666 commonName I601F CFMDB_321 protEffect I618T CFMDB_321 commonName I618T CFMDB_1425 protEffect I752S CFMDB_1425 commonName I752S CFMDB_866 protEffect I807M CFMDB_866 commonName I807M CFMDB_1579 protEffect I807V CFMDB_1579 commonName I807V CFMDB_1541 protEffect I840T CFMDB_1541 commonName I840T CFMDB_1197 protEffect I918M CFMDB_1197 commonName I918M CFMDB_414 protEffect I980K CFMDB_414 commonName I980K CFMDB_1625 protEffect I980M CFMDB_1625 commonName I980M CFMDB_1100 protEffect I991V CFMDB_1100 commonName I991V CFMDB_442 protEffect K1060T CFMDB_442 commonName K1060T CFMDB_1359 protEffect K1080R CFMDB_1359 commonName K1080R CFMDB_1416 protEffect K114X CFMDB_1416 commonName K114X CFMDB_496 protEffect K1177R CFMDB_496 commonName K1177R CFMDB_1216 protEffect K1177X CFMDB_1216 commonName K1177X CFMDB_1427 protEffect K1302R CFMDB_1427 commonName K1302R CFMDB_634 protEffect K1351E CFMDB_634 commonName K1351E CFMDB_12 protEffect K14X CFMDB_12 commonName K14X CFMDB_798 protEffect K162E CFMDB_798 commonName K162E CFMDB_119 protEffect K166Q CFMDB_119 commonName K166Q CFMDB_1373 protEffect K464N CFMDB_1373 commonName K464N CFMDB_1497 protEffect K536X CFMDB_1497 commonName K536X CFMDB_1618 protEffect K598X CFMDB_1618 commonName K598X CFMDB_1355 protEffect K64E CFMDB_1355 commonName K64E CFMDB_1102 protEffect K683R CFMDB_1102 commonName K683R CFMDB_1609 protEffect K688X CFMDB_1609 commonName K688X CFMDB_810 protEffect K68E CFMDB_810 commonName K68E CFMDB_47 protEffect K68N CFMDB_47 commonName K68N CFMDB_345 protEffect K710X CFMDB_345 commonName K710X CFMDB_346 protEffect K716X CFMDB_346 commonName K716X CFMDB_368 protEffect K830X CFMDB_368 commonName K830X CFMDB_616 protEffect K946X CFMDB_616 commonName K946X CFMDB_1352 protEffect L101S CFMDB_1352 commonName L101S CFMDB_593 protEffect L101X CFMDB_593 commonName L101X CFMDB_1254 protEffect L102P CFMDB_1254 commonName L102P CFMDB_1485 protEffect L102R CFMDB_1485 commonName L102R CFMDB_777 protEffect L1059L (3309A/G) CFMDB_777 commonName L1059L (3309A/G) CFMDB_441 protEffect L1059X CFMDB_441 commonName L1059X CFMDB_801 protEffect L1065F CFMDB_801 commonName L1065F CFMDB_446 protEffect L1065P CFMDB_446 commonName L1065P CFMDB_447 protEffect L1065R CFMDB_447 commonName L1065R CFMDB_459 protEffect L1077P CFMDB_459 commonName L1077P CFMDB_594 protEffect L1093P CFMDB_594 commonName L1093P CFMDB_1110 protEffect L1096R CFMDB_1110 commonName L1096R CFMDB_1640 protEffect L1156F CFMDB_1640 commonName L1156F CFMDB_812 protEffect L1227S CFMDB_812 commonName L1227S CFMDB_529 protEffect L1254X CFMDB_529 commonName L1254X CFMDB_1327 protEffect L1260R CFMDB_1327 commonName L1260R CFMDB_95 protEffect L127X CFMDB_95 commonName L127X CFMDB_1377 protEffect L1324P CFMDB_1377 commonName L1324P CFMDB_1580 protEffect L1335F CFMDB_1580 commonName L1335F CFMDB_807 protEffect L1335P CFMDB_807 commonName L1335P CFMDB_1201 protEffect L1339F CFMDB_1201 commonName L1339F CFMDB_611 protEffect L137H CFMDB_611 commonName L137H CFMDB_649 protEffect L137P CFMDB_649 commonName L137P CFMDB_732 protEffect L137R CFMDB_732 commonName L137R CFMDB_685 protEffect L1388Q CFMDB_685 commonName L1388Q CFMDB_1622 protEffect L1388V CFMDB_1622 commonName L1388V CFMDB_1547 protEffect L1414S CFMDB_1547 commonName L1414S CFMDB_1473 protEffect L145H CFMDB_1473 commonName L145H CFMDB_1542 protEffect L1480P CFMDB_1542 commonName L1480P CFMDB_1271 protEffect L159S CFMDB_1271 commonName L159S CFMDB_1132 protEffect L159X CFMDB_1132 commonName L159X CFMDB_1442 protEffect L15P CFMDB_1442 commonName L15P CFMDB_118 protEffect L165S CFMDB_118 commonName L165S CFMDB_1466 protEffect L183I CFMDB_1466 commonName L183I CFMDB_725 protEffect L206F CFMDB_725 commonName L206F CFMDB_139 protEffect L206W CFMDB_139 commonName L206W CFMDB_1347 protEffect L210P CFMDB_1347 commonName L210P CFMDB_585 protEffect L218X CFMDB_585 commonName L218X CFMDB_143 protEffect L227R CFMDB_143 commonName L227R CFMDB_1402 protEffect L24F CFMDB_1402 commonName L24F CFMDB_1299 protEffect L293M CFMDB_1299 commonName L293M CFMDB_175 protEffect L320F CFMDB_175 commonName L320F CFMDB_174 protEffect L320V CFMDB_174 commonName L320V CFMDB_1228 protEffect L320X CFMDB_1228 commonName L320X CFMDB_177 protEffect L327R CFMDB_177 commonName L327R CFMDB_189 protEffect L346P CFMDB_189 commonName L346P CFMDB_1125 protEffect L365P CFMDB_1125 commonName L365P CFMDB_206 protEffect L375F CFMDB_206 commonName L375F CFMDB_1147 protEffect L383L (1281G/A) CFMDB_1147 commonName L383L (1281G/A) CFMDB_710 protEffect L383S CFMDB_710 commonName L383S CFMDB_1375 protEffect L548Q CFMDB_1375 commonName L548Q CFMDB_276 protEffect L558S CFMDB_276 commonName L558S CFMDB_627 protEffect L568F CFMDB_627 commonName L568F CFMDB_293 protEffect L568X CFMDB_293 commonName L568X CFMDB_298 protEffect L571S CFMDB_298 commonName L571S CFMDB_1643 protEffect L594P CFMDB_1643 commonName L594P CFMDB_319 protEffect L610S CFMDB_319 commonName L610S CFMDB_322 protEffect L619S CFMDB_322 commonName L619S CFMDB_1465 protEffect L61P CFMDB_1465 commonName L61P CFMDB_1520 protEffect L633I CFMDB_1520 commonName L633I CFMDB_326 protEffect L633P CFMDB_326 commonName L633P CFMDB_962 protEffect L636P CFMDB_962 commonName L636P CFMDB_347 protEffect L719X CFMDB_347 commonName L719X CFMDB_350 protEffect L732X CFMDB_350 commonName L732X CFMDB_1152 protEffect L829L (2619A/G) CFMDB_1152 commonName L829L (2619A/G) CFMDB_705 protEffect L867X CFMDB_705 commonName L867X CFMDB_59 protEffect L88S CFMDB_59 commonName L88S CFMDB_60 protEffect L88X(T- >A) CFMDB_60 commonName L88X(T- >A) CFMDB_61 protEffect L88X(T- >G) CFMDB_61 commonName L88X(T- >G) CFMDB_1133 protEffect L90S CFMDB_1133 commonName L90S CFMDB_401 protEffect L927P CFMDB_401 commonName L927P CFMDB_809 protEffect L967S CFMDB_809 commonName L967S CFMDB_672 protEffect L973F CFMDB_672 commonName L973F CFMDB_1445 protEffect L973H CFMDB_1445 commonName L973H CFMDB_1141 protEffect L973P CFMDB_1141 commonName L973P CFMDB_776 protEffect L997F CFMDB_776 commonName L997F CFMDB_584 protEffect M1028I CFMDB_584 commonName M1028I CFMDB_1169 protEffect M1028R CFMDB_1169 commonName M1028R CFMDB_471 protEffect M1101K CFMDB_471 commonName M1101K CFMDB_472 protEffect M1101R CFMDB_472 commonName M1101R CFMDB_1315 protEffect M1105R CFMDB_1315 commonName M1105R CFMDB_480 protEffect M1137R CFMDB_480 commonName M1137R CFMDB_1549 protEffect M1137T CFMDB_1549 commonName M1137T CFMDB_479 protEffect M1137V CFMDB_479 commonName M1137V CFMDB_898 protEffect M1140K CFMDB_898 commonName M1140K CFMDB_508 protEffect M1210I CFMDB_508 commonName M1210I CFMDB_1399 protEffect M1210K CFMDB_1399 commonName M1210K CFMDB_1378 protEffect M1407T CFMDB_1378 commonName M1407T CFMDB_1524 protEffect M152L CFMDB_1524 commonName M152L CFMDB_979 protEffect M152R CFMDB_979 commonName M152R CFMDB_108 protEffect M152V CFMDB_108 commonName M152V CFMDB_7 protEffect M1I(ATA) CFMDB_7 commonName M1I(ATA) CFMDB_8 protEffect M1I(ATT) CFMDB_8 commonName M1I(ATT) CFMDB_6 protEffect M1K CFMDB_6 commonName M1K CFMDB_1186 protEffect M1T CFMDB_1186 commonName M1T CFMDB_5 protEffect M1V CFMDB_5 commonName M1V CFMDB_1013 protEffect M243L CFMDB_1013 commonName M243L CFMDB_148 protEffect M244K CFMDB_148 commonName M244K CFMDB_156 protEffect M265R CFMDB_156 commonName M265R CFMDB_1272 protEffect M281T CFMDB_1272 commonName M281T CFMDB_194 protEffect M348K CFMDB_194 commonName M348K CFMDB_1545 protEffect M348T CFMDB_1545 commonName M348T CFMDB_1467 protEffect M348V CFMDB_1467 commonName M348V CFMDB_1137 protEffect M394R CFMDB_1137 commonName M394R CFMDB_1349 protEffect M469V CFMDB_1349 commonName M469V CFMDB_1019 protEffect M470V CFMDB_1019 commonName M470V CFMDB_1486 protEffect M498I CFMDB_1486 commonName M498I CFMDB_1632 protEffect M595I CFMDB_1632 commonName M595I CFMDB_1493 protEffect M595T CFMDB_1493 commonName M595T CFMDB_1548 protEffect M82V CFMDB_1548 commonName M82V CFMDB_406 protEffect M952I CFMDB_406 commonName M952I CFMDB_1058 protEffect M952T CFMDB_1058 commonName M952T CFMDB_1131 protEffect M961I CFMDB_1131 commonName M961I CFMDB_855 protEffect N1088D CFMDB_855 commonName N1088D CFMDB_1630 protEffect N113I CFMDB_1630 commonName N113I CFMDB_1126 protEffect N1148K CFMDB_1126 commonName N1148K CFMDB_1374 protEffect N1148S CFMDB_1374 commonName N1148S CFMDB_1288 protEffect N1195T CFMDB_1288 commonName N1195T CFMDB_551 protEffect N1303H CFMDB_551 commonName N1303H CFMDB_553 protEffect N1303I CFMDB_553 commonName N1303I CFMDB_554 protEffect N1303K CFMDB_554 commonName N1303K CFMDB_700 protEffect N1432K CFMDB_700 commonName N1432K CFMDB_878 protEffect N186K CFMDB_878 commonName N186K CFMDB_987 protEffect N187K CFMDB_987 commonName N187K CFMDB_1482 protEffect N189K CFMDB_1482 commonName N189K CFMDB_1525 protEffect N189S CFMDB_1525 commonName N189S CFMDB_591 protEffect N287Y CFMDB_591 commonName N287Y CFMDB_1538 protEffect N416S CFMDB_1538 commonName N416S CFMDB_217 protEffect N418S CFMDB_217 commonName N418S CFMDB_45 protEffect N66S CFMDB_45 commonName N66S CFMDB_1195 protEffect N782K CFMDB_1195 commonName N782K CFMDB_1155 protEffect N900T CFMDB_1155 commonName N900T CFMDB_1372 protEffect P1013H CFMDB_1372 commonName P1013H CFMDB_583 protEffect P1013L CFMDB_583 commonName P1013L CFMDB_1263 protEffect P1021A CFMDB_1263 commonName P1021A CFMDB_736 protEffect P1021S CFMDB_736 commonName P1021S CFMDB_963 protEffect P1072L CFMDB_963 commonName P1072L CFMDB_696 protEffect P111A CFMDB_696 commonName P111A CFMDB_85 protEffect P111L CFMDB_85 commonName P111L CFMDB_790 protEffect P1290P (4002A/G) CFMDB_790 commonName P1290P (4002A/G) CFMDB_1513 protEffect P1290S CFMDB_1513 commonName P1290S CFMDB_1584 protEffect P1290T CFMDB_1584 commonName P1290T CFMDB_792 protEffect P1306P (4050C/T) CFMDB_792 commonName P1306P (4050C/T) CFMDB_1507 protEffect P1372 L CFMDB_1507 commonName P1372 L CFMDB_1353 protEffect P1372T CFMDB_1353 commonName P1372T CFMDB_802 protEffect P140L CFMDB_802 commonName P140L CFMDB_99 protEffect P140S CFMDB_99 commonName P140S CFMDB_1297 protEffect P205R CFMDB_1297 commonName P205R CFMDB_138 protEffect P205S CFMDB_138 commonName P205S CFMDB_1535 protEffect P355S CFMDB_1535 commonName P355S CFMDB_1501 protEffect P439S CFMDB_1501 commonName P439S CFMDB_661 protEffect P499A CFMDB_661 commonName P499A CFMDB_300 protEffect P574H CFMDB_300 commonName P574H CFMDB_1492 protEffect P574S CFMDB_1492 commonName P574S CFMDB_11 protEffect P5L CFMDB_11 commonName P5L CFMDB_46 protEffect P67L CFMDB_46 commonName P67L CFMDB_1103 protEffect P750L CFMDB_1103 commonName P750L CFMDB_1253 protEffect P841R CFMDB_1253 commonName P841R CFMDB_75 protEffect P99L CFMDB_75 commonName P99L CFMDB_1409 protEffect Q1035X CFMDB_1409 commonName Q1035X CFMDB_1142 protEffect Q1042X CFMDB_1142 commonName Q1042X CFMDB_1120 protEffect Q1071H CFMDB_1120 commonName Q1071H CFMDB_456 protEffect Q1071P CFMDB_456 commonName Q1071P CFMDB_1357 protEffect Q1071X CFMDB_1357 commonName Q1071X CFMDB_470 protEffect Q1100P CFMDB_470 commonName Q1100P CFMDB_484 protEffect Q1144X CFMDB_484 commonName Q1144X CFMDB_785 protEffect Q1186Q (3690A/G) CFMDB_785 commonName Q1186Q (3690A/G) CFMDB_602 protEffect Q1186X CFMDB_602 commonName Q1186X CFMDB_515 protEffect Q1238R CFMDB_515 commonName Q1238R CFMDB_514 protEffect Q1238X CFMDB_514 commonName Q1238X CFMDB_1623 protEffect Q1268R CFMDB_1623 commonName Q1268R CFMDB_680 protEffect Q1281X CFMDB_680 commonName Q1281X CFMDB_544 protEffect Q1291H CFMDB_544 commonName Q1291H CFMDB_543 protEffect Q1291R CFMDB_543 commonName Q1291R CFMDB_1098 protEffect Q1291X CFMDB_1098 commonName Q1291X CFMDB_1600 protEffect Q1309H CFMDB_1600 commonName Q1309H CFMDB_683 protEffect Q1313K CFMDB_683 commonName Q1313K CFMDB_557 protEffect Q1313X CFMDB_557 commonName Q1313X CFMDB_1586 protEffect Q1352E CFMDB_1586 commonName Q1352E CFMDB_564 protEffect Q1352H(G- >C) CFMDB_564 commonName Q1352H(G- >C) CFMDB_1446 protEffect Q1352H(G- >T) CFMDB_1446 commonName Q1352H(G- >T) CFMDB_959 protEffect Q1382X CFMDB_959 commonName Q1382X CFMDB_574 protEffect Q1411X CFMDB_574 commonName Q1411X CFMDB_575 protEffect Q1412X CFMDB_575 commonName Q1412X CFMDB_1543 protEffect Q1463H CFMDB_1543 commonName Q1463H CFMDB_1034 protEffect Q1476X CFMDB_1034 commonName Q1476X CFMDB_1424 protEffect Q151K CFMDB_1424 commonName Q151K CFMDB_107 protEffect Q151X CFMDB_107 commonName Q151X CFMDB_1079 protEffect Q179K CFMDB_1079 commonName Q179K CFMDB_140 protEffect Q207X CFMDB_140 commonName Q207X CFMDB_894 protEffect Q220R CFMDB_894 commonName Q220R CFMDB_141 protEffect Q220X CFMDB_141 commonName Q220X CFMDB_145 protEffect Q237E CFMDB_145 commonName Q237E CFMDB_160 protEffect Q290X CFMDB_160 commonName Q290X CFMDB_9 protEffect Q2X (together with R3W) CFMDB_9 commonName Q2X (together with R3W) CFMDB_22 protEffect Q30X CFMDB_22 commonName Q30X CFMDB_865 protEffect Q353H CFMDB_865 commonName Q353H CFMDB_1099 protEffect Q353X CFMDB_1099 commonName Q353X CFMDB_197 protEffect Q359K/T360K CFMDB_197 commonName Q359K/T360K CFMDB_1146 protEffect Q359R CFMDB_1146 commonName Q359R CFMDB_1261 protEffect Q378R CFMDB_1261 commonName Q378R CFMDB_26 protEffect Q39X CFMDB_26 commonName Q39X CFMDB_216 protEffect Q414X CFMDB_216 commonName Q414X CFMDB_841 protEffect Q452P CFMDB_841 commonName Q452P CFMDB_1256 protEffect Q493P CFMDB_1256 commonName Q493P CFMDB_239 protEffect Q493R CFMDB_239 commonName Q493R CFMDB_237 protEffect Q493X CFMDB_237 commonName Q493X CFMDB_251 protEffect Q525X CFMDB_251 commonName Q525X CFMDB_596 protEffect Q552K CFMDB_596 commonName Q552K CFMDB_271 protEffect Q552X CFMDB_271 commonName Q552X CFMDB_637 protEffect Q634X CFMDB_637 commonName Q634X CFMDB_1044 protEffect Q637X CFMDB_1044 commonName Q637X CFMDB_341 protEffect Q685X CFMDB_341 commonName Q685X CFMDB_1339 protEffect Q689X CFMDB_1339 commonName Q689X CFMDB_1048 protEffect Q720X CFMDB_1048 commonName Q720X CFMDB_745 protEffect Q781X CFMDB_745 commonName Q781X CFMDB_973 protEffect Q890R CFMDB_973 commonName Q890R CFMDB_391 protEffect Q890X CFMDB_391 commonName Q890X CFMDB_1214 protEffect Q98P CFMDB_1214 commonName Q98P CFMDB_74 protEffect Q98R CFMDB_74 commonName Q98R CFMDB_73 protEffect Q98X CFMDB_73 commonName Q98X CFMDB_1540 protEffect R1048G CFMDB_1540 commonName R1048G CFMDB_448 protEffect R1066C CFMDB_448 commonName R1066C CFMDB_450 protEffect R1066H CFMDB_450 commonName R1066H CFMDB_451 protEffect R1066L CFMDB_451 commonName R1066L CFMDB_449 protEffect R1066S CFMDB_449 commonName R1066S CFMDB_589 protEffect R1070P CFMDB_589 commonName R1070P CFMDB_455 protEffect R1070Q CFMDB_455 commonName R1070Q CFMDB_454 protEffect R1070W CFMDB_454 commonName R1070W CFMDB_1435 protEffect R1102X CFMDB_1435 commonName R1102X CFMDB_678 protEffect R1128X CFMDB_678 commonName R1128X CFMDB_491 protEffect R1158X CFMDB_491 commonName R1158X CFMDB_493 protEffect R1162X CFMDB_493 commonName R1162X CFMDB_88 protEffect R117C CFMDB_88 commonName R117C CFMDB_1464 protEffect R117G CFMDB_1464 commonName R117G CFMDB_89 protEffect R117H CFMDB_89 commonName R117H CFMDB_91 protEffect R117L CFMDB_91 commonName R117L CFMDB_90 protEffect R117P CFMDB_90 commonName R117P CFMDB_540 protEffect R1283K CFMDB_540 commonName R1283K CFMDB_541 protEffect R1283M CFMDB_541 commonName R1283M CFMDB_1159 protEffect R1358S CFMDB_1159 commonName R1358S CFMDB_814 protEffect R1422W CFMDB_814 commonName R1422W CFMDB_1406 protEffect R1438W CFMDB_1406 commonName R1438W CFMDB_1014 protEffect R1453W CFMDB_1014 commonName R1453W CFMDB_120 protEffect R170C CFMDB_120 commonName R170C CFMDB_868 protEffect R170G CFMDB_868 commonName R170G CFMDB_1183 protEffect R170H CFMDB_1183 commonName R170H CFMDB_820 protEffect R248T CFMDB_820 commonName R248T CFMDB_154 protEffect R258G CFMDB_154 commonName R258G CFMDB_163 protEffect R297Q CFMDB_163 commonName R297Q CFMDB_749 protEffect R297W CFMDB_749 commonName R297W CFMDB_860 protEffect R31C CFMDB_860 commonName R31C CFMDB_23 protEffect R31L CFMDB_23 commonName R31L CFMDB_632 protEffect R334L CFMDB_632 commonName R334L CFMDB_181 protEffect R334Q CFMDB_181 commonName R334Q CFMDB_180 protEffect R334W CFMDB_180 commonName R334W CFMDB_190 protEffect R347C CFMDB_190 commonName R347C CFMDB_191 protEffect R347H CFMDB_191 commonName R347H CFMDB_192 protEffect R347L CFMDB_192 commonName R347L CFMDB_193 protEffect R347P CFMDB_193 commonName R347P CFMDB_1346 protEffect R352G CFMDB_1346 commonName R352G CFMDB_196 protEffect R352Q CFMDB_196 commonName R352Q CFMDB_605 protEffect R352W CFMDB_605 commonName R352W CFMDB_1268 protEffect R516G CFMDB_1268 commonName R516G CFMDB_272 protEffect R553G CFMDB_272 commonName R553G CFMDB_274 protEffect R553Q CFMDB_274 commonName R553Q CFMDB_273 protEffect R553X CFMDB_273 commonName R553X CFMDB_991 protEffect R555G CFMDB_991 commonName R555G CFMDB_1494 protEffect R55K CFMDB_1494 commonName R55K CFMDB_1274 protEffect R560G CFMDB_1274 commonName R560G CFMDB_279 protEffect R560K CFMDB_279 commonName R560K CFMDB_285 protEffect R560S CFMDB_285 commonName R560S CFMDB_280 protEffect R560T CFMDB_280 commonName R560T CFMDB_753 protEffect R600G CFMDB_753 commonName R600G CFMDB_764 protEffect R668C CFMDB_764 commonName R668C CFMDB_1285 protEffect R709Q CFMDB_1285 commonName R709Q CFMDB_344 protEffect R709X CFMDB_344 commonName R709X CFMDB_1222 protEffect R735K CFMDB_1222 commonName R735K CFMDB_1082 protEffect R74Q CFMDB_1082 commonName R74Q CFMDB_49 protEffect R74W CFMDB_49 commonName R74W CFMDB_1307 protEffect R751P CFMDB_1307 commonName R751P CFMDB_51 protEffect R75L CFMDB_51 commonName R75L CFMDB_1004 protEffect R75Q CFMDB_1004 commonName R75Q CFMDB_50 protEffect R75X CFMDB_50 commonName R75X CFMDB_353 protEffect R764X CFMDB_353 commonName R764X CFMDB_355 protEffect R766M CFMDB_355 commonName R766M CFMDB_356 protEffect R785X CFMDB_356 commonName R785X CFMDB_358 protEffect R792G CFMDB_358 commonName R792G CFMDB_357 protEffect R792X CFMDB_357 commonName R792X CFMDB_1221 protEffect R810G CFMDB_1221 commonName R810G CFMDB_670 protEffect R851L CFMDB_670 commonName R851L CFMDB_374 protEffect R851X CFMDB_374 commonName R851X CFMDB_1340 protEffect R933G CFMDB_1340 commonName R933G CFMDB_619 protEffect R933S CFMDB_619 commonName R933S CFMDB_80 protEffect S108F CFMDB_80 commonName S108F CFMDB_872 protEffect S10R CFMDB_872 commonName S10R CFMDB_993 protEffect S1118C CFMDB_993 commonName S1118C CFMDB_897 protEffect S1118F CFMDB_897 commonName S1118F CFMDB_1158 protEffect S1159F CFMDB_1158 commonName S1159F CFMDB_492 protEffect S1159P CFMDB_492 commonName S1159P CFMDB_1317 protEffect S1161R CFMDB_1317 commonName S1161R CFMDB_502 protEffect S1196X CFMDB_502 commonName S1196X CFMDB_623 protEffect S1206X CFMDB_623 commonName S1206X CFMDB_1440 protEffect S1206X(C>A) CFMDB_1440 commonName S1206X(C>A) CFMDB_513 protEffect S1235R CFMDB_513 commonName S1235R CFMDB_528 protEffect S1251N CFMDB_528 commonName S1251N CFMDB_698 protEffect S1255L CFMDB_698 commonName S1255L CFMDB_530 protEffect S1255P CFMDB_530 commonName S1255P CFMDB_531 protEffect S1255X CFMDB_531 commonName S1255X CFMDB_1323 protEffect S1311R CFMDB_1323 commonName S1311R CFMDB_640 protEffect S13F CFMDB_640 commonName S13F CFMDB_1276 protEffect S1426F CFMDB_1276 commonName S1426F CFMDB_1161 protEffect S1426P CFMDB_1161 commonName S1426P CFMDB_579 protEffect S1455X CFMDB_579 commonName S1455X CFMDB_1644 protEffect S158N CFMDB_1644 commonName S158N CFMDB_1188 protEffect S158R CFMDB_1188 commonName S158R CFMDB_1613 protEffect S158T CFMDB_1613 commonName S158T CFMDB_1512 protEffect S18G CFMDB_1512 commonName S18G CFMDB_832 protEffect S307N CFMDB_832 commonName S307N CFMDB_1483 protEffect S313X CFMDB_1483 commonName S313X CFMDB_1405 protEffect S321P CFMDB_1405 commonName S321P CFMDB_1477 protEffect S341P CFMDB_1477 commonName S341P CFMDB_202 protEffect S364P CFMDB_202 commonName S364P CFMDB_27 protEffect S42F CFMDB_27 commonName S42F CFMDB_1546 protEffect S431G CFMDB_1546 commonName S431G CFMDB_813 protEffect S434X CFMDB_813 commonName S434X CFMDB_228 protEffect S466L CFMDB_228 commonName S466L CFMDB_230 protEffect S466X(TAA) CFMDB_230 commonName S466X(TAA) CFMDB_229 protEffect S466X(TAG) CFMDB_229 commonName S466X(TAG) CFMDB_1047 protEffect S485C CFMDB_1047 commonName S485C CFMDB_235 protEffect S489X CFMDB_235 commonName S489X CFMDB_236 protEffect S492F CFMDB_236 commonName S492F CFMDB_10 protEffect S4X CFMDB_10 commonName S4X CFMDB_874 protEffect S50P CFMDB_874 commonName S50P CFMDB_31 protEffect S50Y CFMDB_31 commonName S50Y CFMDB_1226 protEffect S519G CFMDB_1226 commonName S519G CFMDB_263 protEffect S549I CFMDB_263 commonName S549I CFMDB_262 protEffect S549N CFMDB_262 commonName S549N CFMDB_261 protEffect S549R(A- >C) CFMDB_261 commonName S549R(A- >C) CFMDB_264 protEffect S549R(T- >G) CFMDB_264 commonName S549R(T- >G) CFMDB_1499 protEffect S573C CFMDB_1499 commonName S573C CFMDB_1059 protEffect S589I CFMDB_1059 commonName S589I CFMDB_665 protEffect S589N CFMDB_665 commonName S589N CFMDB_1544 protEffect S660T CFMDB_1544 commonName S660T CFMDB_1526 protEffect S686Y CFMDB_1526 commonName S686Y CFMDB_1305 protEffect S712C CFMDB_1305 commonName S712C CFMDB_1391 protEffect S737F CFMDB_1391 commonName S737F CFMDB_1393 protEffect S737F CFMDB_1393 commonName S737F CFMDB_757 protEffect S776X CFMDB_757 commonName S776X CFMDB_1265 protEffect S813P CFMDB_1265 commonName S813P CFMDB_1154 protEffect S895T CFMDB_1154 commonName S895T CFMDB_1227 protEffect S902R CFMDB_1227 commonName S902R CFMDB_1293 protEffect S911R CFMDB_1293 commonName S911R CFMDB_392 protEffect S912L CFMDB_392 commonName S912L CFMDB_393 protEffect S912X CFMDB_393 commonName S912X CFMDB_403 protEffect S945L CFMDB_403 commonName S945L CFMDB_743 protEffect S977F CFMDB_743 commonName S977F CFMDB_413 protEffect S977P CFMDB_413 commonName S977P CFMDB_977 protEffect T1053I CFMDB_977 commonName T1053I CFMDB_676 protEffect T1057A CFMDB_676 commonName T1057A CFMDB_1354 protEffect T1086A CFMDB_1354 commonName T1086A CFMDB_461 protEffect T1086I CFMDB_461 commonName T1086I CFMDB_1170 protEffect T1142I CFMDB_1170 commonName T1142I CFMDB_525 protEffect T1246I CFMDB_525 commonName T1246I CFMDB_609 protEffect T1252P CFMDB_609 commonName T1252P CFMDB_1582 protEffect T1263A CFMDB_1582 commonName T1263A CFMDB_1404 protEffect T1263I CFMDB_1404 commonName T1263I CFMDB_682 protEffect T1299I CFMDB_682 commonName T1299I CFMDB_1496 protEffect T338A CFMDB_1496 commonName T338A CFMDB_184 protEffect T338I CFMDB_184 commonName T338I CFMDB_864 protEffect T351S CFMDB_864 commonName T351S CFMDB_704 protEffect T360R CFMDB_704 commonName T360R CFMDB_658 protEffect T388M CFMDB_658 commonName T388M CFMDB_208 protEffect T388X CFMDB_208 commonName T388X CFMDB_982 protEffect T501A CFMDB_982 commonName T501A CFMDB_306 protEffect T582I CFMDB_306 commonName T582I CFMDB_307 protEffect T582R CFMDB_307 commonName T582R CFMDB_1292 protEffect T582S CFMDB_1292 commonName T582S CFMDB_1151 protEffect T599T (1929T/A) CFMDB_1151 commonName T599T (1929T/A) CFMDB_1192 protEffect T604I CFMDB_1192 commonName T604I CFMDB_1502 protEffect T604S CFMDB_1502 commonName T604S CFMDB_333 protEffect T665S CFMDB_333 commonName T665S CFMDB_1049 protEffect T760M CFMDB_1049 commonName T760M CFMDB_1581 protEffect T788I CFMDB_1581 commonName T788I CFMDB_1168 protEffect T896I CFMDB_1168 commonName T896I CFMDB_706 protEffect T908N CFMDB_706 commonName T908N CFMDB_763 protEffect V1008D CFMDB_763 commonName V1008D CFMDB_1598 protEffect V1020E CFMDB_1598 commonName V1020E CFMDB_1515 protEffect V1108L CFMDB_1515 commonName V1108L CFMDB_834 protEffect V1147I CFMDB_834 commonName V1147I CFMDB_679 protEffect V1153E CFMDB_679 commonName V1153E CFMDB_501 protEffect V1190D CFMDB_501 commonName V1190D CFMDB_509 protEffect V1212I CFMDB_509 commonName V1212I CFMDB_1054 protEffect V1240G CFMDB_1054 commonName V1240G CFMDB_744 protEffect V1293I CFMDB_744 commonName V1293I CFMDB_903 protEffect V1318A CFMDB_903 commonName V1318A CFMDB_571 protEffect V1397E CFMDB_571 commonName V1397E CFMDB_1136 protEffect V201M CFMDB_1136 commonName V201M CFMDB_144 protEffect V232D CFMDB_144 commonName V232D CFMDB_173 protEffect V317A CFMDB_173 commonName V317A CFMDB_176 protEffect V322A CFMDB_176 commonName V322A CFMDB_870 protEffect V322M (1096(G/A)) CFMDB_870 commonName V322M (1096(G/A)) CFMDB_659 protEffect V392A CFMDB_659 commonName V392A CFMDB_816 protEffect V392G CFMDB_816 commonName V392G CFMDB_1184 protEffect V456A CFMDB_1184 commonName V456A CFMDB_223 protEffect V456F CFMDB_223 commonName V456F CFMDB_248 protEffect V520F CFMDB_248 commonName V520F CFMDB_249 protEffect V520I CFMDB_249 commonName V520I CFMDB_287 protEffect V562I CFMDB_287 commonName V562I CFMDB_288 protEffect V562L CFMDB_288 commonName V562L CFMDB_852 protEffect V603F CFMDB_852 commonName V603F CFMDB_610 protEffect V754M CFMDB_610 commonName V754M CFMDB_954 protEffect V855I CFMDB_954 commonName V855I CFMDB_1198 protEffect V920L CFMDB_1198 commonName V920L CFMDB_398 protEffect V920M CFMDB_398 commonName V920M CFMDB_1360 protEffect V922L CFMDB_1360 commonName V922L CFMDB_620 protEffect V938G CFMDB_620 commonName V938G CFMDB_1443 protEffect V938L CFMDB_1443 commonName V938L CFMDB_445 protEffect W1063X CFMDB_445 commonName W1063X CFMDB_462 protEffect W1089X CFMDB_462 commonName W1089X CFMDB_1641 protEffect W1098L CFMDB_1641 commonName W1098L CFMDB_467 protEffect W1098R CFMDB_467 commonName W1098R CFMDB_468 protEffect W1098X(TAG) CFMDB_468 commonName W1098X(TAG) CFMDB_638 protEffect W1098X(TGA) CFMDB_638 commonName W1098X(TGA) CFMDB_1117 protEffect W1145X CFMDB_1117 commonName W1145X CFMDB_506 protEffect W1204X(3743G- >A) CFMDB_506 commonName W1204X(3743G- >A) CFMDB_1511 protEffect W1204X(3744G- >A) CFMDB_1511 commonName W1204X(3744G- >A) CFMDB_989 protEffect W1274X CFMDB_989 commonName W1274X CFMDB_708 protEffect W1282C CFMDB_708 commonName W1282C CFMDB_597 protEffect W1282G CFMDB_597 commonName W1282G CFMDB_538 protEffect W1282R CFMDB_538 commonName W1282R CFMDB_539 protEffect W1282X CFMDB_539 commonName W1282X CFMDB_556 protEffect W1310X CFMDB_556 commonName W1310X CFMDB_558 protEffect W1316X CFMDB_558 commonName W1316X CFMDB_18 protEffect W19C CFMDB_18 commonName W19C CFMDB_702 protEffect W19X CFMDB_702 commonName W19X CFMDB_1277 protEffect W202X CFMDB_1277 commonName W202X CFMDB_997 protEffect W216X CFMDB_997 commonName W216X CFMDB_1418 protEffect W277R CFMDB_1418 commonName W277R CFMDB_1408 protEffect W356S CFMDB_1408 commonName W356S CFMDB_803 protEffect W356X CFMDB_803 commonName W356X CFMDB_1042 protEffect W361R(T- >A) VAR_017356 commonName VAR_017356 CFMDB_1042 commonName W361R(T- >A) CFMDB_199 protEffect W361R(T- >C) CFMDB_199 commonName W361R(T- >C) CFMDB_718 protEffect W401X(TAG) CFMDB_718 commonName W401X(TAG) CFMDB_211 protEffect W401X(TGA) CFMDB_211 commonName W401X(TGA) CFMDB_241 protEffect W496X CFMDB_241 commonName W496X CFMDB_40 protEffect W57G CFMDB_40 commonName W57G CFMDB_731 protEffect W57R CFMDB_731 commonName W57R CFMDB_41 protEffect W57X(TAG) CFMDB_41 commonName W57X(TAG) CFMDB_1143 protEffect W57X(TGA) CFMDB_1143 commonName W57X(TGA) CFMDB_1066 protEffect W679X CFMDB_1066 commonName W679X CFMDB_53 protEffect W79R CFMDB_53 commonName W79R CFMDB_54 protEffect W79X CFMDB_54 commonName W79X CFMDB_372 protEffect W846X1 CFMDB_372 commonName W846X1 CFMDB_373 protEffect W846X (2670TGG>TGA) CFMDB_373 commonName W846X (2670TGG>TGA) CFMDB_385 protEffect W882X CFMDB_385 commonName W882X CFMDB_829 protEffect Y1014C CFMDB_829 commonName Y1014C CFMDB_721 protEffect Y1032C CFMDB_721 commonName Y1032C CFMDB_1400 protEffect Y1032N CFMDB_1400 commonName Y1032N CFMDB_1294 protEffect Y1073C CFMDB_1294 commonName Y1073C CFMDB_1488 protEffect Y1092C CFMDB_1488 commonName Y1092C CFMDB_747 protEffect Y1092H CFMDB_747 commonName Y1092H CFMDB_463 protEffect Y1092X(C- >A) CFMDB_463 commonName Y1092X(C- >A) CFMDB_464 protEffect Y1092X(C- >G) CFMDB_464 commonName Y1092X(C- >G) CFMDB_82 protEffect Y109C CFMDB_82 commonName Y109C CFMDB_891 protEffect Y109N CFMDB_891 commonName Y109N CFMDB_1342 protEffect Y109X CFMDB_1342 commonName Y109X CFMDB_500 protEffect Y1182X CFMDB_500 commonName Y1182X CFMDB_1624 protEffect Y122C CFMDB_1624 commonName Y122C CFMDB_1495 protEffect Y122H CFMDB_1495 commonName Y122H CFMDB_93 protEffect Y122X CFMDB_93 commonName Y122X CFMDB_1279 protEffect Y1307C CFMDB_1279 commonName Y1307C CFMDB_992 protEffect Y1307X CFMDB_992 commonName Y1307X CFMDB_1573 protEffect Y1381H CFMDB_1573 commonName Y1381H CFMDB_1275 protEffect Y1381X CFMDB_1275 commonName Y1381X CFMDB_996 protEffect Y161D CFMDB_996 commonName Y161D CFMDB_1178 protEffect Y161N CFMDB_1178 commonName Y161N CFMDB_1063 protEffect Y161S CFMDB_1063 commonName Y161S CFMDB_149 protEffect Y247X CFMDB_149 commonName Y247X CFMDB_164 protEffect Y301C CFMDB_164 commonName Y301C CFMDB_165 protEffect Y304X CFMDB_165 commonName Y304X CFMDB_1258 protEffect Y515H CFMDB_1258 commonName Y515H CFMDB_760 protEffect Y517C CFMDB_760 commonName Y517C CFMDB_291 protEffect Y563C CFMDB_291 commonName Y563C CFMDB_289 protEffect Y563D CFMDB_289 commonName Y563D CFMDB_290 protEffect Y563N CFMDB_290 commonName Y563N CFMDB_296 protEffect Y569C CFMDB_296 commonName Y569C CFMDB_294 protEffect Y569D CFMDB_294 commonName Y569D CFMDB_295 protEffect Y569H CFMDB_295 commonName Y569H CFMDB_297 protEffect Y569X CFMDB_297 commonName Y569X CFMDB_302 protEffect Y577F CFMDB_302 commonName Y577F CFMDB_755 protEffect Y577Y (1863C/T) CFMDB_755 commonName Y577Y (1863C/T) CFMDB_1057 protEffect Y849X CFMDB_1057 commonName Y849X CFMDB_1583 protEffect Y84H CFMDB_1583 commonName Y84H CFMDB_1092 protEffect Y89C CFMDB_1092 commonName Y89C CFMDB_395 protEffect Y913C CFMDB_395 commonName Y913C CFMDB_1500 protEffect Y913X CFMDB_1500 commonName Y913X CFMDB_396 protEffect Y917C CFMDB_396 commonName Y917C CFMDB_615 protEffect Y917D CFMDB_615 commonName Y917D CFMDB_397 protEffect Y919C CFMDB_397 commonName Y919C VAR_017941 comment in dbSNP:rs220111 VAR_022964 phenoCommon Leber congenital amaurosis type 8 (LCA8) [MIM:604210] VAR_022965 commonName VAR_022965 VAR_022965 disease phenotype-associated VAR_006603 comment in HEMB VAR_025284 commonName VAR_025284 ADAbase_D0001:g.29885G>A protEffect R142Q ADAbase_D0001:g.29885G>A mutType missense ADAbase_D0001:g.1135C>T protEffect Q3X ADAbase_D0001:g.1135C>T mutType nonsense ADAbase_D0001:g.28910G>A protEffect G74D ADAbase_D0001:g.28910G>A mutType missense ADAbase_D0001:g.28910G>T protEffect G74V ADAbase_D0001:g.28910G>T mutType missense ADAbase_D0001:g.32891C>T protEffect P274L ADAbase_D0001:g.32891C>T mutType missense ADAbase_D0001:g.28937C>A protEffect A83D ADAbase_D0001:g.28937C>A mutType missense ADAbase_D0001:g.28979A>G protEffect Y97C ADAbase_D0001:g.28979A>G mutType missense ADAbase_D0001:g.2430_5678del mutType no ADAbase_D0001:g.32461G>A protEffect A215T ADAbase_D0001:g.32461G>A mutType missense ADAbase_D0001:g.29003delA protEffect H105X132 ADAbase_D0001:g.29003delA mutType frameshift ADAbase_D0001:g.29827delG protEffect D123X132 ADAbase_D0001:g.29827delG mutType frameshift ADAbase_D0001:g.29879G>A protEffect G140E ADAbase_D0001:g.29879G>A mutType missense ADAbase_D0001:g.29884C>T protEffect R142X ADAbase_D0001:g.29884C>T mutType nonsense ADAbase_D0001:g.29927G>A protEffect R156H ADAbase_D0001:g.29927G>A mutType missense ADAbase_D0001:g.32497G>A protEffect E203_E226del ADAbase_D0001:g.32497G>A mutType loss ADAbase_D0001:g.32592C>T protEffect T233I ADAbase_D0001:g.32592C>T mutType missense ADAbase_D0001:g.28906A>G protEffect G74_E121del ADAbase_D0001:g.28906A>G mutType loss ADAbase_D0001:g.32874T>A protEffect G360X406 ADAbase_D0001:g.32874T>A mutType frameshift ADAbase_D0001:g.32874_32885delinsA mutType no AICDAbase_D0002:g.6292_6310del protEffect N7X26 AICDAbase_D0002:g.6292_6310del mutType frameshift AICDAbase_D0002:g.6302T>C protEffect F11L AICDAbase_D0002:g.6302T>C mutType missense AICDAbase_D0002:g.7876_7877insT protEffect Y76X117 AICDAbase_D0002:g.7876_7877insT mutType frameshift AICDAbase_D0002:g.6341C>T protEffect R24W AICDAbase_D0002:g.6341C>T mutType missense AICDAbase_D0002:g.6398T>C protEffect S43P AICDAbase_D0002:g.6398T>C mutType missense AICDAbase_D0002:g.7816C>T protEffect H56Y AICDAbase_D0002:g.7816C>T mutType missense AICDAbase_D0002:g.7826_7834delTGCTCTTCC protEffect 59_62delinsF AICDAbase_D0002:g.7826_7834delTGCTCTTCC mutType inframe AICDAbase_D0002:g.7853G>A protEffect W68X AICDAbase_D0002:g.7853G>A mutType nonsense AICDAbase_D0002:g.7885_7893delACCTGGTTC protEffect T79_F81del AICDAbase_D0002:g.7885_7893delACCTGGTTC mutType inframe AICDAbase_D0002:g.7888T>C protEffect W80R AICDAbase_D0002:g.7888T>C mutType missense AICDAbase_D0002:g.7902G>A protEffect W84X AICDAbase_D0002:g.7902G>A mutType nonsense AICDAbase_D0002:g.7909T>C protEffect C87R AICDAbase_D0002:g.7909T>C mutType missense AICDAbase_D0002:g.7943T>G protEffect L98R AICDAbase_D0002:g.7943T>G mutType missense AICDAbase_D0002:g.7967T>C protEffect L106P AICDAbase_D0002:g.7967T>C mutType missense AICDAbase_D0002:g.7984C>T protEffect R112C AICDAbase_D0002:g.7984C>T mutType missense AICDAbase_D0002:g.8956delC protEffect P182X209 AICDAbase_D0002:g.8956delC mutType frameshift AICDAbase_D0002:g.7985G>A protEffect R112H AICDAbase_D0002:g.7985G>A mutType missense AICDAbase_D0002:g.8057T>A protEffect I136K AICDAbase_D0002:g.8057T>A mutType missense AICDAbase_D0002:g.8065A>G protEffect M139V AICDAbase_D0002:g.8065A>G mutType missense AICDAbase_D0002:g.8384C>A protEffect C147X AICDAbase_D0002:g.8384C>A mutType nonsense AICDAbase_D0002:g.8395T>C protEffect F151S AICDAbase_D0002:g.8395T>C mutType missense AICDAbase_D0002:g.8465A>C protEffect R174S AICDAbase_D0002:g.8465A>C mutType missense AICDAbase_D0002:g.8980C>T protEffect R190X AICDAbase_D0002:g.8980C>T mutType nonsense AICDAbase_D0002:g.6428G>T protEffect N53X67 AICDAbase_D0002:g.6428G>T mutType insertion AICDAbase_D0002:g.8954A>G protEffect 181_181delins32 AICDAbase_D0002:g.8954A>G mutType inframe AICDAbase_D0002:g.8487G>C protEffect D143X146 AICDAbase_D0002:g.8487G>C mutType frameshift AIREbase_D0003:g.4707A>T protEffect M1L AIREbase_D0003:g.4707A>T mutType initiation AIREbase_D0003:g.8473C>T protEffect R257X AIREbase_D0003:g.8473C>T mutType nonsense AIREbase_D0003:g.4749C>T protEffect R15C AIREbase_D0003:g.4749C>T mutType missense AIREbase_D0003:g.4750G>T protEffect R15L AIREbase_D0003:g.4750G>T mutType missense AIREbase_D0003:g.9882_9894del protEffect 323_327delins51 AIREbase_D0003:g.9882_9894del mutType frameshift AIREbase_D0003:g.4749_4750ins protEffect R15X19 AIREbase_D0003:g.4749_4750ins mutType frameshift AIREbase_D0003:g.4753C>T protEffect T16M AIREbase_D0003:g.4753C>T mutType missense AIREbase_D0003:g.5356T>A protEffect W78R AIREbase_D0003:g.5356T>A mutType missense AIREbase_D0003:g.4770_4775delGTGGAC protEffect V22_D23del AIREbase_D0003:g.4770_4775delGTGGAC mutType inframe AIREbase_D0003:g.4789T>C protEffect L28P AIREbase_D0003:g.4789T>C mutType missense AIREbase_D0003:g.11846delC protEffect L417X479 AIREbase_D0003:g.11846delC mutType frameshift AIREbase_D0003:g.4792T>C protEffect L29P AIREbase_D0003:g.4792T>C mutType missense AIREbase_D0003:g.5315_5350del protEffect 64_76delinsY AIREbase_D0003:g.5315_5350del mutType inframe AIREbase_D0003:g.5332_5333insCAGG protEffect D70X217 AIREbase_D0003:g.5332_5333insCAGG mutType frameshift AIREbase_D0003:g.5354T>C protEffect F77S AIREbase_D0003:g.5354T>C mutType missense AIREbase_D0003:g.5356T>C protEffect W78R AIREbase_D0003:g.5356T>C mutType missense AIREbase_D0003:g.11078C>T protEffect Q358X AIREbase_D0003:g.11078C>T mutType nonsense AIREbase_D0003:g.8459C>T protEffect P252L AIREbase_D0003:g.8459C>T mutType missense AIREbase_D0003:g.5371A>G protEffect K83E AIREbase_D0003:g.5371A>G mutType missense AIREbase_D0003:g.5393A>G protEffect Y90C AIREbase_D0003:g.5393A>G mutType missense AIREbase_D0003:g.5402T>G protEffect L93R AIREbase_D0003:g.5402T>G mutType missense AIREbase_D0003:g.5785C>T protEffect R139X AIREbase_D0003:g.5785C>T mutType nonsense AIREbase_D0003:g.6270C>T protEffect Q173X AIREbase_D0003:g.6270C>T mutType nonsense AIREbase_D0003:g.7046delG protEffect G180X377 AIREbase_D0003:g.7046delG mutType frameshift AIREbase_D0003:g.7113C>T protEffect R203X AIREbase_D0003:g.7113C>T mutType nonsense AIREbase_D0003:g.8386G>T protEffect G228W AIREbase_D0003:g.8386G>T mutType missense AIREbase_D0003:g.16426A>T protEffect 546_546delins61 AIREbase_D0003:g.16426A>T mutType terminator AIREbase_D0003:g.11839_11840insA protEffect H415X423 AIREbase_D0003:g.11839_11840insA mutType frameshift AIREbase_D0003:g.9892C>T protEffect P326L AIREbase_D0003:g.9892C>T mutType missense AIREbase_D0003:g.8350_8352delCTC protEffect G218X284 AIREbase_D0003:g.8350_8352delCTC mutType insertion AIREbase_D0003:g.9846delT protEffect C311X377 AIREbase_D0003:g.9846delT mutType frameshift AIREbase_D0003:g.9816G>A protEffect V301M AIREbase_D0003:g.9816G>A mutType missense AIREbase_D0003:g.9823G>C protEffect R303P AIREbase_D0003:g.9823G>C mutType missense AIREbase_D0003:g.11861delC protEffect P422X479 AIREbase_D0003:g.11861delC mutType frameshift AIREbase_D0003:g.12506delinsAC protEffect A432X503 AIREbase_D0003:g.12506delinsAC mutType frameshift AIREbase_D0003:g.9884_9885insCCTG protEffect S324X372 AIREbase_D0003:g.9884_9885insCCTG mutType frameshift AIREbase_D0003:g.11074_11075dupCCCGG protEffect P357X379 AIREbase_D0003:g.11074_11075dupCCCGG mutType frameshift AIREbase_D0003:g.15091delG protEffect A505X520 AIREbase_D0003:g.15091delG mutType frameshift AIREbase_D0003:g.11700_11701insC protEffect P368X371 AIREbase_D0003:g.11700_11701insC mutType frameshift AIREbase_D0003:g.12504_12505insAC protEffect A432X480 AIREbase_D0003:g.12504_12505insAC mutType frameshift AIREbase_D0003:g.12554delinsTT protEffect H448X503 AIREbase_D0003:g.12554delinsTT mutType frameshift AIREbase_D0003:g.16404C>T protEffect P539L AIREbase_D0003:g.16404C>T mutType missense AP3B1base_D0103:g.114127A>T protEffect R302X AP3B1base_D0103:g.114127A>T mutType nonsense AP3B1base_D0103:g.119856_119857delinsTATCAATATC protEffect Q355X360 AP3B1base_D0103:g.119856_119857delinsTATCAATATC mutType frameshift AP3B1base_D0103:g.166503dupA protEffect I597X608 AP3B1base_D0103:g.166503dupA mutType frameshift AP3B1base_AP3B1_DNA:g.166453T>G protEffect L580R AP3B1base_AP3B1_DNA:g.166453T>G mutType missense AP3B1base_AP3B1_DNA:g.154404C>T protEffect R509X AP3B1base_AP3B1_DNA:g.154404C>T mutType nonsense AP3B1base_AP3B1_DNA:g.179444G>T protEffect E659X AP3B1base_AP3B1_DNA:g.179444G>T mutType nonsense AP3B1base_AP3B1_DNA:g.139420T>C protEffect 491_492insVSINXEMFAEFYS AP3B1base_AP3B1_DNA:g.139420T>C mutType inframe AP3B1base_AP3B1_DNA:g.154498dupG protEffect G540X565 AP3B1base_AP3B1_DNA:g.154498dupG mutType frameshift AP3B1base_D0103:g.147279_155450del mutType inframe BIRC4base_D0120:g.26757delC protEffect L98X129 BIRC4base_D0120:g.26757delC mutType frameshift BIRC4base_D0120:g.26817G>T protEffect E118X BIRC4base_D0120:g.26817G>T mutType nonsense BLMbase_D0004:g.33139delA protEffect N92X128 BLMbase_D0004:g.33139delA mutType frameshift BLMbase_D0004:g.33175C>A protEffect S104X BLMbase_D0004:g.33175C>A mutType nonsense BLMbase_D0004:g.77907G>C protEffect C1055S BLMbase_D0004:g.77907G>C mutType missense BLMbase_D0004:g.33421_33423delCAA protEffect 186_187delinsX BLMbase_D0004:g.33421_33423delCAA mutType inframe BLMbase_D0004:g.44513dupA protEffect N515X516 BLMbase_D0004:g.44513dupA mutType frameshift BLMbase_D0004:g.33445dupT protEffect F194X195 BLMbase_D0004:g.33445dupT mutType frameshift BLMbase_D0004:g.33636_33637delCT protEffect L258X264 BLMbase_D0004:g.33636_33637delCT mutType frameshift BLMbase_D0004:g.35397A>T protEffect K272X BLMbase_D0004:g.35397A>T mutType nonsense BLMbase_D0004:g.38438_38442delAAAGA protEffect K331X334 BLMbase_D0004:g.38438_38442delAAAGA mutType frameshift BLMbase_D0004:g.77771delG protEffect D1010X1033 BLMbase_D0004:g.77771delG mutType frameshift BLMbase_D0004:g.44611C>T protEffect Q548X BLMbase_D0004:g.44611C>T mutType nonsense BLMbase_D0004:g.44670G>A protEffect W567X BLMbase_D0004:g.44670G>A mutType nonsense BLMbase_D0004:g.43745A>T protEffect R364X BLMbase_D0004:g.43745A>T mutType nonsense BLMbase_D0004:g.46612C>T protEffect Q645X BLMbase_D0004:g.46612C>T mutType nonsense BLMbase_D0004:g.44253G>A protEffect W428X BLMbase_D0004:g.44253G>A mutType nonsense BLMbase_D0004:g.44315delC protEffect S449X450 BLMbase_D0004:g.44315delC mutType frameshift BLMbase_D0004:g.44597T>A protEffect L543X BLMbase_D0004:g.44597T>A mutType nonsense BLMbase_D0004:g.44753C>A protEffect S595X BLMbase_D0004:g.44753C>A mutType nonsense BLMbase_D0004:g.50562_50563insAAAT protEffect L751X775 BLMbase_D0004:g.50562_50563insAAAT mutType frameshift BLMbase_D0004:g.68579C>T protEffect Q909X BLMbase_D0004:g.68579C>T mutType nonsense BLMbase_D0004:g.81798dupA protEffect R1075X1079 BLMbase_D0004:g.81798dupA mutType frameshift BLMbase_D0004:g.48915C>T protEffect Q700X BLMbase_D0004:g.48915C>T mutType nonsense BLMbase_D0004:g.74344delC protEffect Q975X998 BLMbase_D0004:g.74344delC mutType frameshift BLMbase_D0004:g.81836delT protEffect 1087_1087delins11 BLMbase_D0004:g.81836delT mutType frameshift BLMbase_D0004:g.68549C>T protEffect R899X BLMbase_D0004:g.68549C>T mutType nonsense BLMbase_D0004:g.46647dupG protEffect K657X661 BLMbase_D0004:g.46647dupG mutType frameshift VAR_023870 comment in MFS BLMbase_D0004:g.46694A>G protEffect Q672R BLMbase_D0004:g.46694A>G mutType missense BLMbase_D0004:g.77934A>T protEffect D1064V BLMbase_D0004:g.77934A>T mutType missense BLMbase_D0004:g.87233_87234delTT protEffect L1159X1164 BLMbase_D0004:g.87233_87234delTT mutType frameshift BLMbase_D0004:g.50519_50524delinsTAGATTC protEffect Y736X740 BLMbase_D0004:g.50519_50524delinsTAGATTC mutType frameshift BLMbase_D0004:g.77902delT protEffect D1053X1077 BLMbase_D0004:g.77902delT mutType frameshift BLMbase_D0004:g.68526G>A protEffect G891E BLMbase_D0004:g.68526G>A mutType missense BLMbase_D0004:g.53034dupT protEffect W803X806 BLMbase_D0004:g.53034dupT mutType frameshift BLMbase_D0004:g.87268T>A protEffect Y1170X BLMbase_D0004:g.87268T>A mutType nonsense BLMbase_D0004:g.53133_53134delAG protEffect R836X853 BLMbase_D0004:g.53133_53134delAG mutType frameshift BLMbase_D0004:g.77940G>A protEffect C1066Y BLMbase_D0004:g.77940G>A mutType missense BLMbase_D0004:g.53115dupA protEffect T830X834 BLMbase_D0004:g.53115dupA mutType frameshift BLMbase_D0004:g.87885delA protEffect K1227X1278 BLMbase_D0004:g.87885delA mutType frameshift BLMbase_D0004:g.66505G>A protEffect W881X BLMbase_D0004:g.66505G>A mutType nonsense BLMbase_D0004:g.87173C>T protEffect R1139X BLMbase_D0004:g.87173C>T mutType nonsense BLMbase_D0004:g.68556G>A protEffect C901Y BLMbase_D0004:g.68556G>A mutType missense BLMbase_D0004:g.74276G>T protEffect G952V BLMbase_D0004:g.74276G>T mutType missense BLMbase_D0004:g.74308C>T protEffect H963Y BLMbase_D0004:g.74308C>T mutType missense BLMbase_D0004:g.77861C>T protEffect Q1040X BLMbase_D0004:g.77861C>T mutType nonsense BLMbase_D0004:g.81830_81831insT protEffect R1086X BLMbase_D0004:g.81830_81831insT mutType nonsense BLMbase_D0004:g.81853C>G protEffect S1093X BLMbase_D0004:g.81853C>G mutType nonsense BLMbase_D0004:g.87791delG protEffect S1196X1198 BLMbase_D0004:g.87791delG mutType frameshift BLMbase_D0004:g.87931dupA protEffect T1243X1256 BLMbase_D0004:g.87931dupA mutType frameshift BLMbase_D0004:g.92828C>T protEffect Q1283X BLMbase_D0004:g.92828C>T mutType nonsense BTKbase_U78027.1:g.46199G>T protEffect M1I BTKbase_U78027.1:g.46199G>T mutType initiation BTKbase_U78027.1:g.46198T>C protEffect M1T BTKbase_U78027.1:g.46198T>C mutType initiation_codon BTKbase_U78027.1:g.46197A>G protEffect M1V BTKbase_U78027.1:g.46197A>G mutType initiation_codon BTKbase_U78027.1:g.46211_46223del protEffect I5X7 BTKbase_U78027.1:g.46211_46223del mutType frameshift BTKbase_U78027.1:g.46208dupG protEffect I5X41 BTKbase_U78027.1:g.46208dupG mutType frameshift BTKbase_U78027.1:g.46210_46235del protEffect L6X32 BTKbase_U78027.1:g.46210_46235del mutType frameshift BTKbase_U78027.1:g.46228T>C protEffect L11P BTKbase_U78027.1:g.46228T>C mutType missense BTKbase_U78027.1:g.46226dupT protEffect 11_11delins31 BTKbase_U78027.1:g.46226dupT mutType frameshift BTKbase_U78027.1:g.46231A>G protEffect K12R BTKbase_U78027.1:g.46231A>G mutType missense BTKbase_U78027.1:g.46233C>T protEffect R13X BTKbase_U78027.1:g.46233C>T mutType nonsense BTKbase_U78027.1:g.46237C>T protEffect S14F BTKbase_U78027.1:g.46237C>T mutType missense BTKbase_U78027.1:g.46237_46239delCCC protEffect 14_15delinsX BTKbase_U78027.1:g.46237_46239delCCC mutType inframe BTKbase_U78027.1:g.46239C>T protEffect Q15X BTKbase_U78027.1:g.46239C>T mutType nonsense BTKbase_U78027.1:g.46245A>G protEffect K17E BTKbase_U78027.1:g.46245A>G mutType missense BTKbase_U78027.1:g.46251A>G protEffect K19E BTKbase_U78027.1:g.46251A>G mutType missense BTKbase_U78027.1:g.46251A>T protEffect K19X BTKbase_U78027.1:g.46251A>T mutType nonsense BTKbase_U78027.1:g.46258C>A protEffect S21X BTKbase_U78027.1:g.46258C>A mutType nonsense BTKbase_U78027.1:g.46259delA protEffect S21X23 BTKbase_U78027.1:g.46259delA mutType frameshift BTKbase_U78027.1:g.46270T>C protEffect F25S BTKbase_U78027.1:g.46270T>C mutType missense VAR_013817 comment in MLS BTKbase_U78027.1:g.46276A>G protEffect K27R BTKbase_U78027.1:g.46276A>G mutType missense BTKbase_U78027.1:g.46910C>T protEffect P69S BTKbase_U78027.1:g.46910C>T mutType missense BTKbase_U78027.1:g.60726A>G protEffect K199E BTKbase_U78027.1:g.60726A>G mutType missense BTKbase_U78027.1:g.60733C>T protEffect P201L BTKbase_U78027.1:g.60733C>T mutType missense BTKbase_U78027.1:g.60788T>C protEffect V219V BTKbase_U78027.1:g.60788T>C mutType silent BTKbase_U78027.1:g.46278C>T protEffect R28C BTKbase_U78027.1:g.46278C>T mutType missense BTKbase_U78027.1:g.46280C>T protEffect R28C BTKbase_U78027.1:g.46280C>T mutType missense BTKbase_U78027.1:g.46279G>A protEffect R28H BTKbase_U78027.1:g.46279G>A mutType missense BTKbase_U78027.1:g.46279G>T protEffect R28L BTKbase_U78027.1:g.46279G>T mutType missense BTKbase_U78027.1:g.46279G>C protEffect R28P BTKbase_U78027.1:g.46279G>C mutType missense BTKbase_U78027.1:g.46278C>A protEffect R28S BTKbase_U78027.1:g.46278C>A mutType missense BTKbase_U78027.1:g.46288T>C protEffect L31P BTKbase_U78027.1:g.46288T>C mutType missense BTKbase_U78027.1:g.46291T>C protEffect L32S BTKbase_U78027.1:g.46291T>C mutType missense BTKbase_U78027.1:g.46291T>G protEffect L32W BTKbase_U78027.1:g.46291T>G mutType missense BTKbase_U78027.1:g.46294C>T protEffect T33I BTKbase_U78027.1:g.46294C>T mutType missense BTKbase_U78027.1:g.46293A>C protEffect T33P BTKbase_U78027.1:g.46293A>C mutType missense BTKbase_U78027.1:g.46305_46306delCT protEffect S38X40 BTKbase_U78027.1:g.46305_46306delCT mutType frameshift BTKbase_U78027.1:g.46312A>G protEffect Y39C BTKbase_U78027.1:g.46312A>G mutType missense BTKbase_U78027.1:g.46312A>C protEffect Y39S BTKbase_U78027.1:g.46312A>C mutType missense BTKbase_U78027.1:g.46313C>A protEffect Y39X BTKbase_U78027.1:g.46313C>A mutType nonsense BTKbase_U78027.1:g.46315A>G protEffect Y40C BTKbase_U78027.1:g.46315A>G mutType missense BTKbase_U78027.1:g.46314T>A protEffect Y40N BTKbase_U78027.1:g.46314T>A mutType missense BTKbase_U78027.1:g.46315_46337del protEffect 40_47delinsX BTKbase_U78027.1:g.46315_46337del mutType nonsense BTKbase_U78027.1:g.46322_46323insA protEffect D43X45 BTKbase_U78027.1:g.46322_46323insA mutType frameshift BTKbase_U78027.1:g.46335delG protEffect G47X56 BTKbase_U78027.1:g.46335delG mutType frameshift BTKbase_U78027.1:g.46337delG protEffect G47X56 BTKbase_U78027.1:g.46337delG mutType frameshift BTKbase_U78027.1:g.46847_46852delAGAAGA protEffect R48_R49del BTKbase_U78027.1:g.46847_46852delAGAAGA mutType inframe BTKbase_U78027.1:g.46847_46851delAGAAG protEffect R48X50 BTKbase_U78027.1:g.46847_46851delAGAAG mutType frameshift BTKbase_U78027.1:g.46847_46848delAG protEffect R48X51 BTKbase_U78027.1:g.46847_46848delAG mutType frameshift BTKbase_U78027.1:g.46861delG protEffect K52X56 BTKbase_U78027.1:g.46861delG mutType frameshift BTKbase_U78027.1:g.46858dupT protEffect K52X BTKbase_U78027.1:g.46858dupT mutType nonsense BTKbase_U78027.1:g.46864delG protEffect K53X56 BTKbase_U78027.1:g.46864delG mutType frameshift BTKbase_U78027.1:g.60746G>T protEffect E205D BTKbase_U78027.1:g.60746G>T mutType missense BTKbase_U78027.1:g.46865delG protEffect G54X56 BTKbase_U78027.1:g.46865delG mutType frameshift BTKbase_U78027.1:g.46872T>C protEffect I56T BTKbase_U78027.1:g.46872T>C mutType missense BTKbase_U78027.1:g.46876_46877delTG protEffect D57X58 BTKbase_U78027.1:g.46876_46877delTG mutType frameshift BTKbase_U78027.1:g.46879dupT protEffect E59X BTKbase_U78027.1:g.46879dupT mutType nonsense BTKbase_U78027.1:g.46881_46883delAGA protEffect 59_60delinsE BTKbase_U78027.1:g.46881_46883delAGA mutType inframe_deletion BTKbase_U78027.1:g.46883_46885delAAG protEffect K60del BTKbase_U78027.1:g.46883_46885delAAG mutType inframe BTKbase_U78027.1:g.46887T>A protEffect I61N BTKbase_U78027.1:g.46887T>A mutType missense BTKbase_U78027.1:g.46887T>C protEffect I61T BTKbase_U78027.1:g.46887T>C mutType missense BTKbase_U78027.1:g.46889delA protEffect T62X120 BTKbase_U78027.1:g.46889delA mutType frameshift BTKbase_U78027.1:g.46896T>A protEffect V64D BTKbase_U78027.1:g.46896T>A mutType missense BTKbase_U78027.1:g.46895G>T protEffect V64F BTKbase_U78027.1:g.46895G>T mutType missense BTKbase_U78027.1:g.46903_46904delAG protEffect V67X69 BTKbase_U78027.1:g.46903_46904delAG mutType frameshift BTKbase_U78027.1:g.46920delA protEffect N72X120 BTKbase_U78027.1:g.46920delA mutType frameshift BTKbase_U78027.1:g.46919_46920delinsT protEffect N72X120 BTKbase_U78027.1:g.46919_46920delinsT mutType frameshift BTKbase_U78027.1:g.46920dupA protEffect N72X84 BTKbase_U78027.1:g.46920dupA mutType frameshift BTKbase_U78027.1:g.46931_46934delGAAA protEffect E76X119 BTKbase_U78027.1:g.46931_46934delGAAA mutType frameshift BTKbase_U78027.1:g.46937C>T protEffect Q78X BTKbase_U78027.1:g.46937C>T mutType nonsense BTKbase_U78027.1:g.49781_49785delAGAAG protEffect R81X82 BTKbase_U78027.1:g.49781_49785delAGAAG mutType frameshift BTKbase_U78027.1:g.49809delA protEffect 90_90delins31 BTKbase_U78027.1:g.49809delA mutType frameshift BTKbase_U78027.1:g.49809_49810dupAAATGGA protEffect E90X98 BTKbase_U78027.1:g.49809_49810dupAAATGGA mutType frameshift BTKbase_U78027.1:g.49811C>T protEffect Q91X BTKbase_U78027.1:g.49811C>T mutType nonsense BTKbase_U78027.1:g.49832T>G protEffect F98V BTKbase_U78027.1:g.49832T>G mutType missense BTKbase_U78027.1:g.49848A>G protEffect Q103R BTKbase_U78027.1:g.49848A>G mutType missense BTKbase_U78027.1:g.51403_51404delGT protEffect V104X106 BTKbase_U78027.1:g.51403_51404delGT mutType frameshift BTKbase_U78027.1:g.51404delT protEffect V104X120 BTKbase_U78027.1:g.51404delT mutType frameshift BTKbase_U78027.1:g.51406delG protEffect V105X120 BTKbase_U78027.1:g.51406delG mutType frameshift BTKbase_U78027.1:g.51412delG mutType frameshift BTKbase_U78027.1:g.51425T>G protEffect L111R BTKbase_U78027.1:g.51425T>G mutType missense BTKbase_U78027.1:g.51427T>C protEffect Y112H BTKbase_U78027.1:g.51427T>C mutType missense BTKbase_U78027.1:g.51429C>A protEffect Y112X BTKbase_U78027.1:g.51429C>A mutType nonsense BTKbase_U78027.1:g.51429C>G protEffect Y112X BTKbase_U78027.1:g.51429C>G mutType nonsense BTKbase_U78027.1:g.51431T>A protEffect V113D BTKbase_U78027.1:g.51431T>A mutType missense BTKbase_U78027.1:g.51434_51436delTCT protEffect 114_115delinsS BTKbase_U78027.1:g.51434_51436delTCT mutType inframe_deletion BTKbase_U78027.1:g.51434_51435delinsGA protEffect F114X BTKbase_U78027.1:g.51434_51435delinsGA mutType nonsense BTKbase_U78027.1:g.51433_51440delTTCTCCCC protEffect F114X115 BTKbase_U78027.1:g.51433_51440delTTCTCCCC mutType frameshift BTKbase_U78027.1:g.51437C>T protEffect S115F BTKbase_U78027.1:g.51437C>T mutType missense BTKbase_U78027.1:g.51442A>C protEffect T117P BTKbase_U78027.1:g.51442A>C mutType missense BTKbase_U78027.1:g.51465G>T protEffect W124C BTKbase_U78027.1:g.51465G>T mutType missense BTKbase_U78027.1:g.51464G>A protEffect W124X BTKbase_U78027.1:g.51464G>A mutType nonsense BTKbase_U78027.1:g.51465G>A protEffect W124X BTKbase_U78027.1:g.51465G>A mutType nonsense BTKbase_U78027.1:g.51466_51467ins47 mutType frameshift BTKbase_U78027.1:g.51474G>C protEffect Q127H BTKbase_U78027.1:g.51474G>C mutType missense BTKbase_U78027.1:g.51481delA mutType frameshift BTKbase_U78027.1:g.51478delA protEffect K129X131 BTKbase_U78027.1:g.51478delA mutType frameshift BTKbase_U78027.1:g.60894C>T protEffect R255X BTKbase_U78027.1:g.60894C>T mutType nonsense BTKbase_U78027.1:g.58791delC protEffect R133X175 BTKbase_U78027.1:g.58791delC mutType frameshift BTKbase_U78027.1:g.58796C>A protEffect Y134X BTKbase_U78027.1:g.58796C>A mutType nonsense BTKbase_U78027.1:g.58796delC protEffect Y134X BTKbase_U78027.1:g.58796delC mutType frameshift BTKbase_U78027.1:g.58807_58808dupACAGTGATCT protEffect L138X140 BTKbase_U78027.1:g.58807_58808dupACAGTGATCT mutType frameshift BTKbase_U78027.1:g.58820T>A protEffect Y142X BTKbase_U78027.1:g.58820T>A mutType nonsense BTKbase_U78027.1:g.58820T>G protEffect Y142X BTKbase_U78027.1:g.58820T>G mutType nonsense BTKbase_U78027.1:g.58825delC protEffect P144X175 BTKbase_U78027.1:g.58825delC mutType frameshift BTKbase_U78027.1:g.58829C>A protEffect C145X BTKbase_U78027.1:g.58829C>A mutType nonsense BTKbase_U78027.1:g.58835G>A protEffect W147X BTKbase_U78027.1:g.58835G>A mutType nonsense BTKbase_U78027.1:g.58836_58839delATCG protEffect W147X173 BTKbase_U78027.1:g.58836_58839delATCG mutType frameshift BTKbase_U78027.1:g.58844dupG protEffect Q151X193 BTKbase_U78027.1:g.58844dupG mutType frameshift BTKbase_U78027.1:g.58854T>G protEffect C154G BTKbase_U78027.1:g.58854T>G mutType missense BTKbase_U78027.1:g.58855G>C protEffect C154S BTKbase_U78027.1:g.58855G>C mutType missense BTKbase_U78027.1:g.58855G>A protEffect C154Y BTKbase_U78027.1:g.58855G>A mutType missense BTKbase_U78027.1:g.58857T>G protEffect C155G BTKbase_U78027.1:g.58857T>G mutType missense BTKbase_U78027.1:g.58857T>C protEffect C155R BTKbase_U78027.1:g.58857T>C mutType missense BTKbase_U78027.1:g.58858G>A protEffect C155Y BTKbase_U78027.1:g.58858G>A mutType missense BTKbase_U78027.1:g.58864dupA protEffect Q157X193 BTKbase_U78027.1:g.58864dupA mutType frameshift BTKbase_U78027.1:g.58866_58869delACAG protEffect T158X174 BTKbase_U78027.1:g.58866_58869delACAG mutType frameshift BTKbase_U78027.1:g.58871_58872insT protEffect K160X BTKbase_U78027.1:g.58871_58872insT mutType nonsense BTKbase_U78027.1:g.58876dupA protEffect N161X193 BTKbase_U78027.1:g.58876dupA mutType frameshift BTKbase_U78027.1:g.58888G>A protEffect C165Y BTKbase_U78027.1:g.58888G>A mutType missense BTKbase_U78027.1:g.58890C>T protEffect Q166X BTKbase_U78027.1:g.58890C>T mutType nonsense BTKbase_U78027.1:g.58904_58905insG protEffect R171X193 BTKbase_U78027.1:g.58904_58905insG mutType frameshift BTKbase_U78027.1:g.58906_58910delGGAAT protEffect N172X191 BTKbase_U78027.1:g.58906_58910delGGAAT mutType frameshift BTKbase_U78027.1:g.58907dupG protEffect N172X193 BTKbase_U78027.1:g.58907dupG mutType frameshift BTKbase_U78027.1:g.59238dupT protEffect L175X193 BTKbase_U78027.1:g.59238dupT mutType frameshift BTKbase_U78027.1:g.59260delG protEffect R182X198 BTKbase_U78027.1:g.59260delG mutType frameshift BTKbase_U78027.1:g.59264A>C mutType missense BTKbase_U78027.1:g.59271_59272delinsC protEffect T184P BTKbase_U78027.1:g.59271_59272delinsC mutType frameshift BTKbase_U78027.1:g.59266delA protEffect T184X198 BTKbase_U78027.1:g.59266delA mutType frameshift BTKbase_U78027.1:g.59271_59272delinsT protEffect K186X198 BTKbase_U78027.1:g.59271_59272delinsT mutType frameshift BTKbase_U78027.1:g.59271dupA protEffect K186X193 BTKbase_U78027.1:g.59271dupA mutType frameshift BTKbase_U78027.1:g.59275_59278delTCTT protEffect P187X197 BTKbase_U78027.1:g.59275_59278delTCTT mutType frameshift BTKbase_U78027.1:g.59279delC protEffect P189X198 BTKbase_U78027.1:g.59279delC mutType frameshift BTKbase_U78027.1:g.59291G>T protEffect E193X BTKbase_U78027.1:g.59291G>T mutType nonsense BTKbase_U78027.1:g.59300C>T protEffect Q196X BTKbase_U78027.1:g.59300C>T mutType nonsense BTKbase_U78027.1:g.60719_60720dupCTACATAG protEffect I197X201 BTKbase_U78027.1:g.60719_60720dupCTACATAG mutType frameshift BTKbase_U78027.1:g.60739delC protEffect P203X216 BTKbase_U78027.1:g.60739delC mutType frameshift BTKbase_U78027.1:g.60739_60741delinsTGGTG protEffect P203X217 BTKbase_U78027.1:g.60739_60741delinsTGGTG mutType frameshift BTKbase_U78027.1:g.60743_60744delTG protEffect 204_205delins11 BTKbase_U78027.1:g.60743_60744delTG mutType frameshift BTKbase_U78027.1:g.60773_60776delTGAG protEffect S214X215 BTKbase_U78027.1:g.60773_60776delTGAG mutType frameshift BTKbase_U78027.1:g.60751delC protEffect A207X216 BTKbase_U78027.1:g.60751delC mutType frameshift BTKbase_U78027.1:g.60772delG protEffect S214X216 BTKbase_U78027.1:g.60772delG mutType frameshift BTKbase_U78027.1:g.60773_60774delTG protEffect S214X223 BTKbase_U78027.1:g.60773_60774delTG mutType frameshift BTKbase_U78027.1:g.60772_60907del protEffect S214X231 BTKbase_U78027.1:g.60772_60907del mutType frameshift VAR_008221 comment in XLRS1 BTKbase_U78027.1:g.60783delA protEffect K218X228 BTKbase_U78027.1:g.60783delA mutType frameshift BTKbase_U78027.1:g.60784delA protEffect 218_218delins11 BTKbase_U78027.1:g.60784delA mutType frameshift BTKbase_U78027.1:g.60786delG protEffect V219X228 BTKbase_U78027.1:g.60786delG mutType frameshift BTKbase_U78027.1:g.60787_60792delinsCC protEffect V219X227 BTKbase_U78027.1:g.60787_60792delinsCC mutType frameshift BTKbase_U78027.1:g.60800T>G protEffect Y223X BTKbase_U78027.1:g.60800T>G mutType nonsense BTKbase_U78027.1:g.60802delA protEffect D224X228 BTKbase_U78027.1:g.60802delA mutType frameshift BTKbase_U78027.1:g.60813delinsGT protEffect M228X232 BTKbase_U78027.1:g.60813delinsGT mutType frameshift BTKbase_U78027.1:g.60831C>T protEffect Q234X BTKbase_U78027.1:g.60831C>T mutType nonsense BTKbase_U78027.1:g.60841_60844delAGGG protEffect K237X275 BTKbase_U78027.1:g.60841_60844delAGGG mutType frameshift BTKbase_U78027.1:g.60845delT protEffect G238X276 BTKbase_U78027.1:g.60845delT mutType frameshift BTKbase_U78027.1:g.60846delG protEffect D239X276 BTKbase_U78027.1:g.60846delG mutType frameshift BTKbase_U78027.1:g.60849G>T protEffect E240X BTKbase_U78027.1:g.60849G>T mutType nonsense BTKbase_U78027.1:g.60857dupT protEffect I243X257 BTKbase_U78027.1:g.60857dupT mutType frameshift BTKbase_U78027.1:g.60861delT protEffect L244X276 BTKbase_U78027.1:g.60861delT mutType frameshift BTKbase_U78027.1:g.60862T>A protEffect L244X BTKbase_U78027.1:g.60862T>A mutType nonsense BTKbase_U78027.1:g.60870delA protEffect S247X276 BTKbase_U78027.1:g.60870delA mutType frameshift BTKbase_U78027.1:g.60871delG protEffect S247X276 BTKbase_U78027.1:g.60871delG mutType frameshift BTKbase_U78027.1:g.60877T>A protEffect L249X BTKbase_U78027.1:g.60877T>A mutType nonsense BTKbase_U78027.1:g.60884G>A protEffect W251X BTKbase_U78027.1:g.60884G>A mutType nonsense BTKbase_U78027.1:g.60886G>A protEffect W252X BTKbase_U78027.1:g.60886G>A mutType nonsense BTKbase_U78027.1:g.60887G>A protEffect W252X BTKbase_U78027.1:g.60887G>A mutType nonsense BTKbase_U78027.1:g.61326C>T protEffect Q260X BTKbase_U78027.1:g.61326C>T mutType nonsense BTKbase_U78027.1:g.61329delinsTTA protEffect E261X277 BTKbase_U78027.1:g.61329delinsTTA mutType frameshift BTKbase_U78027.1:g.61351delA protEffect Y268X276 BTKbase_U78027.1:g.61351delA mutType frameshift BTKbase_U78027.1:g.61357delC protEffect T270X276 BTKbase_U78027.1:g.61357delC mutType frameshift BTKbase_U78027.1:g.61377G>T protEffect E277X BTKbase_U78027.1:g.61377G>T mutType nonsense BTKbase_U78027.1:g.61386G>T protEffect E280X BTKbase_U78027.1:g.61386G>T mutType nonsense BTKbase_U78027.1:g.61386_61389delGAGT protEffect E280X285 BTKbase_U78027.1:g.61386_61389delGAGT mutType frameshift BTKbase_U78027.1:g.62131G>A protEffect W281X BTKbase_U78027.1:g.62131G>A mutType nonsense BTKbase_U78027.1:g.62142delA protEffect H285X286 BTKbase_U78027.1:g.62142delA mutType frameshift BTKbase_U78027.1:g.62144_62145delAT protEffect M286X291 BTKbase_U78027.1:g.62144_62145delAT mutType frameshift BTKbase_U78027.1:g.62151G>A protEffect R288Q BTKbase_U78027.1:g.62151G>A mutType missense BTKbase_U78027.1:g.62150C>T protEffect R288W BTKbase_U78027.1:g.62150C>T mutType missense BTKbase_U78027.1:g.62150_62153delCGGA protEffect R288X294 BTKbase_U78027.1:g.62150_62153delCGGA mutType frameshift BTKbase_U78027.1:g.62165C>T protEffect Q293X BTKbase_U78027.1:g.62165C>T mutType nonsense BTKbase_U78027.1:g.62172T>C protEffect L295P BTKbase_U78027.1:g.62172T>C mutType missense BTKbase_U78027.1:g.62173delA protEffect L295X330 BTKbase_U78027.1:g.62173delA mutType frameshift BTKbase_U78027.1:g.62177C>T protEffect Q297X BTKbase_U78027.1:g.62177C>T mutType nonsense BTKbase_U78027.1:g.62779_62858del protEffect G299X321 BTKbase_U78027.1:g.62779_62858del mutType frameshift BTKbase_U78027.1:g.62785_62787delGAA protEffect E301del BTKbase_U78027.1:g.62785_62787delGAA mutType inframe BTKbase_U78027.1:g.62789G>A protEffect G302E BTKbase_U78027.1:g.62789G>A mutType missense BTKbase_U78027.1:g.62788G>A protEffect G302R BTKbase_U78027.1:g.62788G>A mutType missense BTKbase_U78027.1:g.62787_62789delAGG protEffect G302del BTKbase_U78027.1:g.62787_62789delAGG mutType inframe_deletion BTKbase_U78027.1:g.62790_62792delAGG protEffect 302_303delinsG BTKbase_U78027.1:g.62790_62792delAGG mutType inframe BTKbase_U78027.1:g.62803A>G protEffect R307G BTKbase_U78027.1:g.62803A>G mutType missense BTKbase_U78027.1:g.62804G>A protEffect R307K BTKbase_U78027.1:g.62804G>A mutType missense BTKbase_U78027.1:g.62805A>G protEffect R307R BTKbase_U78027.1:g.62805A>G mutType missense BTKbase_U78027.1:g.62804G>C protEffect R307T BTKbase_U78027.1:g.62804G>C mutType missense BTKbase_U78027.1:g.62808C>G protEffect D308E BTKbase_U78027.1:g.62808C>G mutType missense BTKbase_U78027.1:g.62806_62807delGA protEffect D308X321 BTKbase_U78027.1:g.62806_62807delGA mutType frameshift BTKbase_U78027.1:g.62821delG protEffect G313X330 BTKbase_U78027.1:g.62821delG mutType frameshift BTKbase_U78027.1:g.62826A>G protEffect G313X318 BTKbase_U78027.1:g.62826A>G mutType loss BTKbase_U78027.1:g.62826delA protEffect K314X330 BTKbase_U78027.1:g.62826delA mutType frameshift BTKbase_U78027.1:g.62829T>G protEffect Y315X BTKbase_U78027.1:g.62829T>G mutType nonsense BTKbase_U78027.1:g.62831_62832delCA protEffect T316X321 BTKbase_U78027.1:g.62831_62832delCA mutType frameshift BTKbase_U78027.1:g.62837C>T protEffect S318F BTKbase_U78027.1:g.62837C>T mutType missense BTKbase_U78027.1:g.62836T>C protEffect S318P BTKbase_U78027.1:g.62836T>C mutType missense BTKbase_U78027.1:g.62840T>C protEffect V319A BTKbase_U78027.1:g.62840T>C mutType missense BTKbase_U78027.1:g.62841_62842delGT protEffect V319X321 BTKbase_U78027.1:g.62841_62842delGT mutType frameshift BTKbase_U78027.1:g.63038_63165del protEffect 325_368delins31 BTKbase_U78027.1:g.63038_63165del mutType frameshift BTKbase_U78027.1:g.63039delG protEffect D326X330 BTKbase_U78027.1:g.63039delG mutType frameshift BTKbase_U78027.1:g.63040_63052del protEffect D326X398 BTKbase_U78027.1:g.63040_63052del mutType frameshift BTKbase_U78027.1:g.63045C>T protEffect Q328X BTKbase_U78027.1:g.63045C>T mutType nonsense BTKbase_U78027.1:g.63064A>C protEffect Y334S BTKbase_U78027.1:g.63064A>C mutType missense BTKbase_U78027.1:g.63072T>G protEffect C337G BTKbase_U78027.1:g.63072T>G mutType missense BTKbase_U78027.1:g.63074T>A protEffect C337X BTKbase_U78027.1:g.63074T>A mutType nonsense BTKbase_U78027.1:g.63080_63081dupCACA protEffect P340X349 BTKbase_U78027.1:g.63080_63081dupCACA mutType frameshift BTKbase_U78027.1:g.63090C>T protEffect Q343X BTKbase_U78027.1:g.63090C>T mutType nonsense BTKbase_U78027.1:g.63100T>C protEffect L346P BTKbase_U78027.1:g.63100T>C mutType missense BTKbase_U78027.1:g.63100T>G protEffect L346R BTKbase_U78027.1:g.63100T>G mutType missense BTKbase_U78027.1:g.63105G>T protEffect E348X BTKbase_U78027.1:g.63105G>T mutType nonsense BTKbase_U78027.1:g.63107dupG protEffect K349X357 BTKbase_U78027.1:g.63107dupG mutType frameshift BTKbase_U78027.1:g.63135C>T protEffect L358F BTKbase_U78027.1:g.63135C>T mutType missense BTKbase_U78027.1:g.63142delA protEffect N360X402 BTKbase_U78027.1:g.63142delA mutType frameshift BTKbase_U78027.1:g.63145A>G protEffect Y361C BTKbase_U78027.1:g.63145A>G mutType missense BTKbase_U78027.1:g.63144T>G protEffect Y361D BTKbase_U78027.1:g.63144T>G mutType missense BTKbase_U78027.1:g.63146C>A protEffect Y361X BTKbase_U78027.1:g.63146C>A mutType nonsense BTKbase_U78027.1:g.63144_63146delTAC protEffect Y361del BTKbase_U78027.1:g.63144_63146delTAC mutType inframe BTKbase_U78027.1:g.63149T>G protEffect H362Q BTKbase_U78027.1:g.63149T>G mutType missense BTKbase_U78027.1:g.63148A>G protEffect H362R BTKbase_U78027.1:g.63148A>G mutType missense BTKbase_U78027.1:g.63151dupA protEffect Q363X398 BTKbase_U78027.1:g.63151dupA mutType frameshift BTKbase_U78027.1:g.63153C>G protEffect H364D BTKbase_U78027.1:g.63153C>G mutType missense BTKbase_U78027.1:g.63154A>C protEffect H364P BTKbase_U78027.1:g.63154A>C mutType missense BTKbase_U78027.1:g.63156A>T protEffect N365Y BTKbase_U78027.1:g.63156A>T mutType missense BTKbase_U78027.1:g.63165G>T protEffect G368X BTKbase_U78027.1:g.63165G>T mutType nonsense BTKbase_U78027.1:g.63892_63904del protEffect 368_372delins31 BTKbase_U78027.1:g.63892_63904del mutType frameshift BTKbase_U78027.1:g.63894C>T protEffect L369F BTKbase_U78027.1:g.63894C>T mutType missense BTKbase_U78027.1:g.63895_63896delTC protEffect L369X397 BTKbase_U78027.1:g.63895_63896delTC mutType frameshift BTKbase_U78027.1:g.63899A>G protEffect I370M BTKbase_U78027.1:g.63899A>G mutType missense BTKbase_U78027.1:g.63900T>C protEffect S371P BTKbase_U78027.1:g.63900T>C mutType missense BTKbase_U78027.1:g.63903A>G protEffect R372G BTKbase_U78027.1:g.63903A>G mutType missense BTKbase_U78027.1:g.63911A>C protEffect K374N BTKbase_U78027.1:g.63911A>C mutType missense BTKbase_U78027.1:g.63914T>G protEffect Y375X BTKbase_U78027.1:g.63914T>G mutType nonsense BTKbase_U78027.1:g.63920_63921dup protEffect S378X403 BTKbase_U78027.1:g.63920_63921dup mutType frameshift BTKbase_U78027.1:g.63924C>T protEffect Q379X BTKbase_U78027.1:g.63924C>T mutType nonsense BTKbase_U78027.1:g.63927C>T protEffect Q380X BTKbase_U78027.1:g.63927C>T mutType nonsense BTKbase_U78027.1:g.63934_63936delinsTT protEffect 382_382delins21 BTKbase_U78027.1:g.63934_63936delinsTT mutType frameshift BTKbase_U78027.1:g.63942delC protEffect P385X402 BTKbase_U78027.1:g.63942delC mutType frameshift BTKbase_U78027.1:g.63945_63949delTCCAC protEffect 386_387delins11 BTKbase_U78027.1:g.63945_63949delTCCAC mutType frameshift BTKbase_U78027.1:g.63955dupG protEffect G389X398 BTKbase_U78027.1:g.63955dupG mutType frameshift BTKbase_U78027.1:g.63962A>G protEffect G391G BTKbase_U78027.1:g.63962A>G mutType silent BTKbase_U78027.1:g.63965C>A protEffect Y392X BTKbase_U78027.1:g.63965C>A mutType nonsense BTKbase_U78027.1:g.63964dupA protEffect Y392X BTKbase_U78027.1:g.63964dupA mutType nonsense BTKbase_U78027.1:g.64526G>A protEffect W395X BTKbase_U78027.1:g.64526G>A mutType nonsense BTKbase_U78027.1:g.64541delA protEffect K400X402 BTKbase_U78027.1:g.64541delA mutType frameshift BTKbase_U78027.1:g.64545_64548delCCTG protEffect D401X404 BTKbase_U78027.1:g.64545_64548delCCTG mutType frameshift BTKbase_U78027.1:g.64547T>C protEffect L402P BTKbase_U78027.1:g.64547T>C mutType missense BTKbase_U78027.1:g.64552_64554delTTC protEffect F404del BTKbase_U78027.1:g.64552_64554delTTC mutType inframe_deletion BTKbase_U78027.1:g.64565T>C protEffect L408P BTKbase_U78027.1:g.64565T>C mutType missense BTKbase_U78027.1:g.64568_64569insA protEffect 409_409delins31 BTKbase_U78027.1:g.64568_64569insA mutType frameshift BTKbase_U78027.1:g.64569dupG protEffect T410X439 BTKbase_U78027.1:g.64569dupG mutType frameshift BTKbase_U78027.1:g.64582G>A protEffect G414R BTKbase_U78027.1:g.64582G>A mutType missense BTKbase_U78027.1:g.64594T>C protEffect Y418H BTKbase_U78027.1:g.64594T>C mutType missense BTKbase_U78027.1:g.64597G>A protEffect G419R BTKbase_U78027.1:g.64597G>A mutType missense BTKbase_U78027.1:g.64605G>A protEffect W421X BTKbase_U78027.1:g.64605G>A mutType nonsense BTKbase_U78027.1:g.64617C>A protEffect Y425X BTKbase_U78027.1:g.64617C>A mutType nonsense BTKbase_U78027.1:g.64628T>A protEffect I429N BTKbase_U78027.1:g.64628T>A mutType missense BTKbase_U78027.1:g.64630A>G protEffect K430E BTKbase_U78027.1:g.64630A>G mutType missense BTKbase_U78027.1:g.64631A>G protEffect K430R BTKbase_U78027.1:g.64631A>G mutType missense BTKbase_U78027.1:g.64663G>T protEffect E441X BTKbase_U78027.1:g.64663G>T mutType nonsense BTKbase_U78027.1:g.64677A>C protEffect E445D BTKbase_U78027.1:g.64677A>C mutType missense BTKbase_U78027.1:g.65212T>C protEffect L452P BTKbase_U78027.1:g.65212T>C mutType missense BTKbase_U78027.1:g.65213_65214delTT protEffect L452X454 BTKbase_U78027.1:g.65213_65214delTT mutType frameshift BTKbase_U78027.1:g.65218A>G protEffect H454R BTKbase_U78027.1:g.65218A>G mutType missense BTKbase_U78027.1:g.65232C>T protEffect Q459X BTKbase_U78027.1:g.65232C>T mutType nonsense BTKbase_U78027.1:g.65236T>A protEffect L460X BTKbase_U78027.1:g.65236T>A mutType nonsense BTKbase_U78027.1:g.65240_65241delTG protEffect 461_462delinsX BTKbase_U78027.1:g.65240_65241delTG mutType nonsense BTKbase_U78027.1:g.65242G>A protEffect G462D BTKbase_U78027.1:g.65242G>A mutType missense BTKbase_U78027.1:g.65242G>T protEffect G462V BTKbase_U78027.1:g.65242G>T mutType missense BTKbase_U78027.1:g.65249C>A protEffect C464X BTKbase_U78027.1:g.65249C>A mutType nonsense BTKbase_U78027.1:g.65253A>T protEffect K466X BTKbase_U78027.1:g.65253A>T mutType nonsense BTKbase_U78027.1:g.65275_65277delTCA protEffect 473_474delinsT BTKbase_U78027.1:g.65275_65277delTCA mutType inframe BTKbase_U78027.1:g.65283T>G protEffect Y476D BTKbase_U78027.1:g.65283T>G mutType missense BTKbase_U78027.1:g.65285delC protEffect Y476X BTKbase_U78027.1:g.65285delC mutType frameshift BTKbase_U78027.1:g.65287T>G protEffect M477R BTKbase_U78027.1:g.65287T>G mutType missense BTKbase_U78027.1:g.65312C>A protEffect Y485X BTKbase_U78027.1:g.65312C>A mutType nonsense BTKbase_U78027.1:g.65314T>C protEffect L486P BTKbase_U78027.1:g.65314T>C mutType missense BTKbase_U78027.1:g.65324_65327delGCGC protEffect M489X498 BTKbase_U78027.1:g.65324_65327delGCGC mutType frameshift BTKbase_U78027.1:g.65323_65326delTGCG protEffect M489X498 BTKbase_U78027.1:g.65323_65326delTGCG mutType frameshift BTKbase_U78027.1:g.65333delC protEffect F493X499 BTKbase_U78027.1:g.65333delC mutType frameshift BTKbase_U78027.1:g.65346C>T protEffect Q497X BTKbase_U78027.1:g.65346C>T mutType nonsense BTKbase_U78027.1:g.65355G>T protEffect E500X BTKbase_U78027.1:g.65355G>T mutType nonsense BTKbase_U78027.1:g.65359T>C protEffect M501T BTKbase_U78027.1:g.65359T>C mutType missense BTKbase_U78027.1:g.65363C>A protEffect C502X BTKbase_U78027.1:g.65363C>A mutType nonsense BTKbase_U78027.1:g.65362G>T protEffect C502F BTKbase_U78027.1:g.65362G>T mutType missense BTKbase_U78027.1:g.65363C>G protEffect C502W BTKbase_U78027.1:g.65363C>G mutType missense BTKbase_U78027.1:g.65368A>T protEffect D504V BTKbase_U78027.1:g.65368A>T mutType missense BTKbase_U78027.1:g.65368delA protEffect D504X529 BTKbase_U78027.1:g.65368delA mutType frameshift BTKbase_U78027.1:g.65374G>T protEffect C506F BTKbase_U78027.1:g.65374G>T mutType missense BTKbase_U78027.1:g.65373T>C protEffect C506R BTKbase_U78027.1:g.65373T>C mutType missense BTKbase_U78027.1:g.65374G>A protEffect C506Y BTKbase_U78027.1:g.65374G>A mutType missense BTKbase_U78027.1:g.65380C>A protEffect A508D BTKbase_U78027.1:g.65380C>A mutType missense BTKbase_U78027.1:g.65384G>A protEffect M509I BTKbase_U78027.1:g.65384G>A mutType missense BTKbase_U78027.1:g.65384G>T protEffect M509I BTKbase_U78027.1:g.65384G>T mutType missense BTKbase_U78027.1:g.65383T>C protEffect M509T BTKbase_U78027.1:g.65383T>C mutType missense BTKbase_U78027.1:g.65382A>G protEffect M509V BTKbase_U78027.1:g.65382A>G mutType missense BTKbase_U78027.1:g.65382dupA protEffect M509X536 BTKbase_U78027.1:g.65382dupA mutType frameshift BTKbase_U78027.1:g.65388T>A protEffect Y511N BTKbase_U78027.1:g.65388T>A mutType missense BTKbase_U78027.1:g.65390C>A protEffect Y511X BTKbase_U78027.1:g.65390C>A mutType nonsense BTKbase_U78027.1:g.65388_65389dupGAAT protEffect Y511X BTKbase_U78027.1:g.65388_65389dupGAAT mutType nonsense BTKbase_U78027.1:g.65392T>C protEffect L512P BTKbase_U78027.1:g.65392T>C mutType missense BTKbase_U78027.1:g.65392T>A protEffect L512Q BTKbase_U78027.1:g.65392T>A mutType missense BTKbase_U78027.1:g.65410T>G protEffect L518R BTKbase_U78027.1:g.65410T>G mutType missense BTKbase_U78027.1:g.65415C>G protEffect R520G BTKbase_U78027.1:g.65415C>G mutType missense BTKbase_U78027.1:g.65416G>A protEffect R520Q BTKbase_U78027.1:g.65416G>A mutType missense BTKbase_U78027.1:g.65415C>T protEffect R520X BTKbase_U78027.1:g.65415C>T mutType nonsense BTKbase_U78027.1:g.65419A>G protEffect D521G BTKbase_U78027.1:g.65419A>G mutType missense BTKbase_U78027.1:g.65418G>C protEffect D521H BTKbase_U78027.1:g.65418G>C mutType missense BTKbase_U78027.1:g.65418G>A protEffect D521N BTKbase_U78027.1:g.65418G>A mutType missense BTKbase_U78027.1:g.66781_66845del protEffect A523X527 BTKbase_U78027.1:g.66781_66845del mutType frameshift BTKbase_U78027.1:g.66780_66781dupACTACAG protEffect A523X538 BTKbase_U78027.1:g.66780_66781dupACTACAG mutType frameshift BTKbase_U78027.1:g.66782C>A protEffect A523E BTKbase_U78027.1:g.66782C>A mutType missense BTKbase_U78027.1:g.66787C>G protEffect R525G BTKbase_U78027.1:g.66787C>G mutType missense BTKbase_U78027.1:g.66788G>C protEffect R525P BTKbase_U78027.1:g.66788G>C mutType missense BTKbase_U78027.1:g.66788G>A protEffect R525Q BTKbase_U78027.1:g.66788G>A mutType missense BTKbase_U78027.1:g.66787C>T protEffect R525X BTKbase_U78027.1:g.66787C>T mutType nonsense BTKbase_U78027.1:g.66792C>G protEffect N526K BTKbase_U78027.1:g.66792C>G mutType missense BTKbase_U78027.1:g.66793T>A protEffect C527S BTKbase_U78027.1:g.66793T>A mutType missense BTKbase_U78027.1:g.66794G>T protEffect C527F BTKbase_U78027.1:g.66794G>T mutType missense BTKbase_U78027.1:g.66795_66798delTTTG protEffect C527X528 BTKbase_U78027.1:g.66795_66798delTTTG mutType frameshift BTKbase_U78027.1:g.66793_66794delTG protEffect C527X535 BTKbase_U78027.1:g.66793_66794delTG mutType frameshift BTKbase_U78027.1:g.66802delA protEffect N530X555 BTKbase_U78027.1:g.66802delA mutType frameshift BTKbase_U78027.1:g.66811delG protEffect G533X555 BTKbase_U78027.1:g.66811delG mutType frameshift BTKbase_U78027.1:g.66817G>T protEffect V535F BTKbase_U78027.1:g.66817G>T mutType missense BTKbase_U78027.1:g.66824T>A protEffect V537E BTKbase_U78027.1:g.66824T>A mutType missense BTKbase_U78027.1:g.66826T>C protEffect S538P BTKbase_U78027.1:g.66826T>C mutType missense BTKbase_U78027.1:g.66828delT protEffect S538X555 BTKbase_U78027.1:g.66828delT mutType frameshift BTKbase_U78027.1:g.66833T>C protEffect F540S BTKbase_U78027.1:g.66833T>C mutType missense BTKbase_U78027.1:g.66832_66841del protEffect F540X552 BTKbase_U78027.1:g.66832_66841del mutType frameshift BTKbase_U78027.1:g.66836G>A protEffect G541D BTKbase_U78027.1:g.66836G>A mutType missense BTKbase_U78027.1:g.66839T>C protEffect L542P BTKbase_U78027.1:g.66839T>C mutType missense BTKbase_U78027.1:g.66845G>A protEffect R544K BTKbase_U78027.1:g.66845G>A mutType missense BTKbase_U78027.1:g.66844A>G protEffect R544G BTKbase_U78027.1:g.66844A>G mutType missense BTKbase_U78027.1:g.67487G>T protEffect R544S BTKbase_U78027.1:g.67487G>T mutType missense BTKbase_U78027.1:g.67492T>C protEffect V546A BTKbase_U78027.1:g.67492T>C mutType missense BTKbase_U78027.1:g.67495_67496dupATGTCCT protEffect L547X551 BTKbase_U78027.1:g.67495_67496dupATGTCCT mutType frameshift BTKbase_U78027.1:g.67516C>G protEffect S554X BTKbase_U78027.1:g.67516C>G mutType nonsense BTKbase_U78027.1:g.67523_67544del protEffect G556X562 BTKbase_U78027.1:g.67523_67544del mutType frameshift BTKbase_U78027.1:g.67527A>T protEffect K558X BTKbase_U78027.1:g.67527A>T mutType nonsense BTKbase_U78027.1:g.67531T>C protEffect F559S BTKbase_U78027.1:g.67531T>C mutType missense BTKbase_U78027.1:g.67537_67538delinsA protEffect V561X569 BTKbase_U78027.1:g.67537_67538delinsA mutType frameshift BTKbase_U78027.1:g.67540G>C protEffect R562P BTKbase_U78027.1:g.67540G>C mutType missense BTKbase_U78027.1:g.67539C>T protEffect R562W BTKbase_U78027.1:g.67539C>T mutType missense BTKbase_U78027.1:g.67539_67540delinsT protEffect R562X569 BTKbase_U78027.1:g.67539_67540delinsT mutType frameshift BTKbase_U78027.1:g.67543G>T protEffect W563L BTKbase_U78027.1:g.67543G>T mutType missense BTKbase_U78027.1:g.67543G>A protEffect W563X BTKbase_U78027.1:g.67543G>A mutType nonsense BTKbase_U78027.1:g.67549C>T protEffect P565L BTKbase_U78027.1:g.67549C>T mutType missense BTKbase_U78027.1:g.67548C>A protEffect P565T BTKbase_U78027.1:g.67548C>A mutType missense BTKbase_U78027.1:g.67551C>T protEffect P566S BTKbase_U78027.1:g.67551C>T mutType missense BTKbase_U78027.1:g.67553delG protEffect P566X569 BTKbase_U78027.1:g.67553delG mutType frameshift BTKbase_U78027.1:g.67556A>C protEffect E567D BTKbase_U78027.1:g.67556A>C mutType missense BTKbase_U78027.1:g.67554G>A protEffect E567K BTKbase_U78027.1:g.67554G>A mutType missense BTKbase_U78027.1:g.67554delG protEffect E567X569 BTKbase_U78027.1:g.67554delG mutType frameshift BTKbase_U78027.1:g.67561T>C protEffect L569P BTKbase_U78027.1:g.67561T>C mutType missense BTKbase_U78027.1:g.67566_67570delTATAG protEffect Y571X577 BTKbase_U78027.1:g.67566_67570delTATAG mutType frameshift BTKbase_U78027.1:g.67566delT protEffect Y571X586 BTKbase_U78027.1:g.67566delT mutType frameshift BTKbase_U78027.1:g.67568_67569insTA protEffect S572X BTKbase_U78027.1:g.67568_67569insTA mutType frameshift BTKbase_U78027.1:g.67570_67571insTA protEffect S572X587 BTKbase_U78027.1:g.67570_67571insTA mutType frameshift BTKbase_U78027.1:g.67579G>T protEffect S575I BTKbase_U78027.1:g.67579G>T mutType missense BTKbase_U78027.1:g.67580C>A protEffect S575R BTKbase_U78027.1:g.67580C>A mutType missense BTKbase_U78027.1:g.67588C>A protEffect S578Y BTKbase_U78027.1:g.67588C>A mutType missense BTKbase_U78027.1:g.67591A>T protEffect D579V BTKbase_U78027.1:g.67591A>T mutType missense BTKbase_U78027.1:g.67596T>C protEffect W581R BTKbase_U78027.1:g.67596T>C mutType missense BTKbase_U78027.1:g.67597G>C protEffect W581S BTKbase_U78027.1:g.67597G>C mutType missense BTKbase_U78027.1:g.67598G>A protEffect W581X BTKbase_U78027.1:g.67598G>A mutType nonsense BTKbase_U78027.1:g.67600C>T protEffect A582V BTKbase_U78027.1:g.67600C>T mutType missense BTKbase_U78027.1:g.67600delC protEffect A582X586 BTKbase_U78027.1:g.67600delC mutType frameshift BTKbase_U78027.1:g.67603T>C protEffect F583S BTKbase_U78027.1:g.67603T>C mutType missense BTKbase_U78027.1:g.67604delT protEffect F583X586 BTKbase_U78027.1:g.67604delT mutType frameshift BTKbase_U78027.1:g.67605G>A protEffect G584R BTKbase_U78027.1:g.67605G>A mutType missense BTKbase_U78027.1:g.67605G>T protEffect G584W BTKbase_U78027.1:g.67605G>T mutType missense BTKbase_U78027.1:g.68127G>T protEffect V585F BTKbase_U78027.1:g.68127G>T mutType missense BTKbase_U78027.1:g.67605delG protEffect V585X586 BTKbase_U78027.1:g.67605delG mutType frameshift BTKbase_U78027.1:g.68133A>C protEffect M587L BTKbase_U78027.1:g.68133A>C mutType missense BTKbase_U78027.1:g.68134T>C protEffect M587T BTKbase_U78027.1:g.68134T>C mutType missense BTKbase_U78027.1:g.68138G>T protEffect W588C BTKbase_U78027.1:g.68138G>T mutType missense BTKbase_U78027.1:g.68137G>A protEffect W588X BTKbase_U78027.1:g.68137G>A mutType nonsense BTKbase_U78027.1:g.68141A>T protEffect E589D BTKbase_U78027.1:g.68141A>T mutType missense BTKbase_U78027.1:g.68140A>G protEffect E589G BTKbase_U78027.1:g.68140A>G mutType missense BTKbase_U78027.1:g.68139G>A protEffect E589K BTKbase_U78027.1:g.68139G>A mutType missense BTKbase_U78027.1:g.68142A>T protEffect I590F BTKbase_U78027.1:g.68142A>T mutType missense BTKbase_U78027.1:g.68142delA protEffect I590X648 BTKbase_U78027.1:g.68142delA mutType frameshift BTKbase_U78027.1:g.68146A>C protEffect Y591S BTKbase_U78027.1:g.68146A>C mutType missense BTKbase_U78027.1:g.68147C>A protEffect Y591X BTKbase_U78027.1:g.68147C>A mutType nonsense BTKbase_U78027.1:g.68148T>C protEffect S592P BTKbase_U78027.1:g.68148T>C mutType missense BTKbase_U78027.1:g.68149C>A protEffect S592Y BTKbase_U78027.1:g.68149C>A mutType missense BTKbase_U78027.1:g.68155G>A protEffect G594E BTKbase_U78027.1:g.68155G>A mutType missense BTKbase_U78027.1:g.68154G>A protEffect G594R BTKbase_U78027.1:g.68154G>A mutType missense BTKbase_U78027.1:g.68154G>C protEffect G594R BTKbase_U78027.1:g.68154G>C mutType missense BTKbase_U78027.1:g.68163C>A protEffect P597T BTKbase_U78027.1:g.68163C>A mutType missense BTKbase_U78027.1:g.68167A>G protEffect Y598C BTKbase_U78027.1:g.68167A>G mutType missense BTKbase_U78027.1:g.68166T>G protEffect Y598D BTKbase_U78027.1:g.68166T>G mutType missense BTKbase_U78027.1:g.68167A>C protEffect Y598S BTKbase_U78027.1:g.68167A>C mutType missense BTKbase_U78027.1:g.68172A>T protEffect R600X BTKbase_U78027.1:g.68172A>T mutType nonsense BTKbase_U78027.1:g.68184_68185delAG protEffect S604X BTKbase_U78027.1:g.68184_68185delAG mutType nonsense BTKbase_U78027.1:g.68186_68187insGACAGT protEffect 604_605insDS BTKbase_U78027.1:g.68186_68187insGACAGT mutType inframe BTKbase_U78027.1:g.68190A>C protEffect T606P BTKbase_U78027.1:g.68190A>C mutType missense BTKbase_U78027.1:g.68194C>A protEffect A607D BTKbase_U78027.1:g.68194C>A mutType missense BTKbase_U78027.1:g.68209A>C protEffect Q612P BTKbase_U78027.1:g.68209A>C mutType missense BTKbase_U78027.1:g.68208C>T protEffect Q612X BTKbase_U78027.1:g.68208C>T mutType nonsense BTKbase_U78027.1:g.68208delC protEffect Q612X648 BTKbase_U78027.1:g.68208delC mutType frameshift BTKbase_U78027.1:g.68212G>C protEffect G613A BTKbase_U78027.1:g.68212G>C mutType missense BTKbase_U78027.1:g.68212G>A protEffect G613D BTKbase_U78027.1:g.68212G>A mutType missense BTKbase_U78027.1:g.68218G>C protEffect R615P BTKbase_U78027.1:g.68218G>C mutType missense BTKbase_U78027.1:g.68220C>T protEffect L616F BTKbase_U78027.1:g.68220C>T mutType missense BTKbase_U78027.1:g.68220C>A protEffect L616I BTKbase_U78027.1:g.68220C>A mutType missense BTKbase_U78027.1:g.68222_68224delCTA protEffect 616_617delinsL BTKbase_U78027.1:g.68222_68224delCTA mutType inframe BTKbase_U78027.1:g.68229C>G protEffect P619A BTKbase_U78027.1:g.68229C>G mutType missense BTKbase_U78027.1:g.68230C>T protEffect P619L BTKbase_U78027.1:g.68230C>T mutType missense BTKbase_U78027.1:g.68229C>T protEffect P619S BTKbase_U78027.1:g.68229C>T mutType missense BTKbase_U78027.1:g.68229C>A protEffect P619T BTKbase_U78027.1:g.68229C>A mutType missense BTKbase_U78027.1:g.68237delG protEffect L621X648 BTKbase_U78027.1:g.68237delG mutType frameshift BTKbase_U78027.1:g.68238G>C protEffect A622P BTKbase_U78027.1:g.68238G>C mutType missense BTKbase_U78027.1:g.68242C>T protEffect S623L BTKbase_U78027.1:g.68242C>T mutType missense BTKbase_U78027.1:g.68247A>T protEffect K625X BTKbase_U78027.1:g.68247A>T mutType nonsense BTKbase_U78027.1:g.68251T>G protEffect V626G BTKbase_U78027.1:g.68251T>G mutType missense BTKbase_U78027.1:g.68253_68257delins protEffect Y627X651 BTKbase_U78027.1:g.68253_68257delins mutType frameshift BTKbase_U78027.1:g.68255_68256insCA protEffect T628X649 BTKbase_U78027.1:g.68255_68256insCA mutType frameshift BTKbase_U78027.1:g.68263T>C protEffect M630T BTKbase_U78027.1:g.68263T>C mutType missense BTKbase_U78027.1:g.68261_68262dup protEffect M630X657 BTKbase_U78027.1:g.68261_68262dup mutType frameshift BTKbase_U78027.1:g.68263T>A protEffect M630K BTKbase_U78027.1:g.68263T>A mutType missense BTKbase_U78027.1:g.68266_68267delAC protEffect Y631X BTKbase_U78027.1:g.68266_68267delAC mutType frameshift BTKbase_U78027.1:g.68265delT protEffect Y631X648 BTKbase_U78027.1:g.68265delT mutType frameshift BTKbase_U78027.1:g.68268delA protEffect S632X648 BTKbase_U78027.1:g.68268delA mutType frameshift BTKbase_U78027.1:g.68272G>A protEffect C633Y BTKbase_U78027.1:g.68272G>A mutType missense BTKbase_U78027.1:g.68272delG protEffect C633X648 BTKbase_U78027.1:g.68272delG mutType frameshift BTKbase_U78027.1:g.68275G>C protEffect W634S BTKbase_U78027.1:g.68275G>C mutType missense BTKbase_U78027.1:g.68276G>A protEffect W634X BTKbase_U78027.1:g.68276G>A mutType nonsense BTKbase_U78027.1:g.68278delA protEffect H635X648 BTKbase_U78027.1:g.68278delA mutType frameshift BTKbase_U78027.1:g.68280G>T protEffect E636X BTKbase_U78027.1:g.68280G>T mutType nonsense BTKbase_U78027.1:g.68279_68280insTTTTAG protEffect 635_636insFX BTKbase_U78027.1:g.68279_68280insTTTTAG mutType inframe BTKbase_U78027.1:g.71523delA protEffect K637X648 BTKbase_U78027.1:g.71523delA mutType frameshift BTKbase_U78027.1:g.71520_71521dupTTTTAG protEffect 636_637insFX BTKbase_U78027.1:g.71520_71521dupTTTTAG mutType inframe BTKbase_U78027.1:g.71524_71526delGCA protEffect A638del BTKbase_U78027.1:g.71524_71526delGCA mutType inframe BTKbase_U78027.1:g.71533C>T protEffect R641C BTKbase_U78027.1:g.71533C>T mutType missense BTKbase_U78027.1:g.71534G>A protEffect R641H BTKbase_U78027.1:g.71534G>A mutType missense BTKbase_U78027.1:g.71537_71544delCCACTTTC protEffect P642X654 BTKbase_U78027.1:g.71537_71544delCCACTTTC mutType frameshift BTKbase_U78027.1:g.71540C>T protEffect T643I BTKbase_U78027.1:g.71540C>T mutType missense BTKbase_U78027.1:g.71541delT protEffect T643X648 BTKbase_U78027.1:g.71541delT mutType frameshift BTKbase_U78027.1:g.71544C>A protEffect F644L BTKbase_U78027.1:g.71544C>A mutType missense BTKbase_U78027.1:g.71543T>C protEffect F644S BTKbase_U78027.1:g.71543T>C mutType missense BTKbase_U78027.1:g.71552T>G protEffect L647R BTKbase_U78027.1:g.71552T>G mutType missense BTKbase_U78027.1:g.71555T>C protEffect L648P BTKbase_U78027.1:g.71555T>C mutType missense BTKbase_U78027.1:g.71564delT protEffect I651X652 BTKbase_U78027.1:g.71564delT mutType frameshift BTKbase_U78027.1:g.71567T>C protEffect L652P BTKbase_U78027.1:g.71567T>C mutType missense BTKbase_U78027.1:g.46174dupG mutType upstream BTKbase_U78027.1:g.46338G>A protEffect R48X76 BTKbase_U78027.1:g.46338G>A mutType gain BTKbase_U78027.1:g.46946G>C protEffect R81X119 BTKbase_U78027.1:g.46946G>C mutType insertion BTKbase_U78027.1:g.46937_46951del protEffect Q78X114 BTKbase_U78027.1:g.46937_46951del mutType cryptic BTKbase_U78027.1:g.51401A>T protEffect V103X119 BTKbase_U78027.1:g.51401A>T mutType gain BTKbase_U78027.1:g.51401A>C mutType insertion BTKbase_U78027.1:g.51401A>G protEffect 103_104insSVFSSTQ BTKbase_U78027.1:g.51401A>G mutType inframe BTKbase_U78027.1:g.51485G>A protEffect 104_131delinsX BTKbase_U78027.1:g.51485G>A mutType loss BTKbase_U78027.1:g.58784A>C protEffect V131_S174del BTKbase_U78027.1:g.58784A>C mutType loss BTKbase_U78027.1:g.51485G>T protEffect 104_131delinsX BTKbase_U78027.1:g.51485G>T mutType deletion BTKbase_U78027.1:g.58785G>A protEffect V131_S174del BTKbase_U78027.1:g.58785G>A mutType loss BTKbase_U78027.1:g.60908G>T mutType loss BTKbase_U78027.1:g.61324G>A protEffect Q260_E280del BTKbase_U78027.1:g.61324G>A mutType loss BTKbase_U78027.1:g.61392G>A protEffect Q260_E280del BTKbase_U78027.1:g.61392G>A mutType loss BTKbase_U78027.1:g.61388G>A protEffect Q260_E280del BTKbase_U78027.1:g.61388G>A mutType loss BTKbase_U78027.1:g.62183G>A protEffect W281_T324del BTKbase_U78027.1:g.62183G>A mutType loss BTKbase_U78027.1:g.62859delG mutType loss BTKbase_U78027.1:g.62862A>T protEffect K300X321 BTKbase_U78027.1:g.62862A>T mutType loss BTKbase_U78027.1:g.62861G>T protEffect K300X321 BTKbase_U78027.1:g.62861G>T mutType loss BTKbase_U78027.1:g.63890A>T protEffect L369X398 BTKbase_U78027.1:g.63890A>T mutType loss BTKbase_U78027.1:g.64518A>T protEffect 384_384delins91 BTKbase_U78027.1:g.64518A>T mutType loss BTKbase_U78027.1:g.63968delT protEffect G393X409 BTKbase_U78027.1:g.63968delT mutType gain BTKbase_U78027.1:g.64692G>T protEffect G393X426 BTKbase_U78027.1:g.64692G>T mutType loss BTKbase_U78027.1:g.64697T>G protEffect M450X451 BTKbase_U78027.1:g.64697T>G mutType gain BTKbase_U78027.1:g.66769_66772delTTTG protEffect A523X527 BTKbase_U78027.1:g.66769_66772delTTTG mutType loss BTKbase_U78027.1:g.66779A>C protEffect A523X527 BTKbase_U78027.1:g.66779A>C mutType deletion BTKbase_U78027.1:g.66846G>C protEffect R544X545 BTKbase_U78027.1:g.66846G>C mutType gain BTKbase_U78027.1:g.67610G>A protEffect E599_T628del BTKbase_U78027.1:g.67610G>A mutType loss BTKbase_U78027.1:g.68283G>A protEffect V626_E636del BTKbase_U78027.1:g.68283G>A mutType inframe C1QAbase_D0007:g.2687C>T protEffect Q208X C1QAbase_D0007:g.2687C>T mutType nonsense C1QAbase_C1QA_DNA:g.2687C>T protEffect Q208X C1QAbase_C1QA_DNA:g.2687C>T mutType nonsense C1QBbase_D0111:g.7335G>A protEffect G42D C1QBbase_D0111:g.7335G>A mutType missense C1QBbase_D0111:g.8907C>T protEffect R177X C1QBbase_D0111:g.8907C>T mutType nonsense C1QCbase_D0008:g.1491G>A protEffect G34R C1QCbase_D0008:g.1491G>A mutType missense C1QCbase_D0008:g.4618C>T protEffect R69X C1QCbase_D0008:g.4618C>T mutType nonsense C1QCbase_D0008:g.4626delC protEffect P71X137 C1QCbase_D0008:g.4626delC mutType frameshift C1Sbase_D0009:g.7961_7964delTTTG protEffect F378X409 C1Sbase_D0009:g.7961_7964delTTTG mutType frameshift C1Sbase_D0009:g.10626G>T protEffect E597X C1Sbase_D0009:g.10626G>T mutType nonsense C1Sbase_D0009:g.10404C>T protEffect R523X C1Sbase_D0009:g.10404C>T mutType nonsense C2base_D0094:g.2151G>A protEffect C131Y C2base_D0094:g.2151G>A mutType missense C2base_D0094:g.9059G>C protEffect E318D C2base_D0094:g.9059G>C mutType missense C2base_D0094:g.7326_7353del protEffect V281X282 C2base_D0094:g.7326_7353del mutType frameshift C2base_D0094:g.16300G>A protEffect G464R C2base_D0094:g.16300G>A mutType missense C3base_D0106:g.10970G>A protEffect D549N C3base_D0106:g.10970G>A mutType missense C3base_D0106:g.10981G>A protEffect W552X C3base_D0106:g.10981G>A mutType nonsense C3base_D0106:g.19119_19179del protEffect S765X771 C3base_D0106:g.19119_19179del mutType frameshift C3base_D0106:g.23958C>T protEffect R848X C3base_D0106:g.23958C>T mutType nonsense C3base_D0106:g.28580C>G protEffect Y1081X C3base_D0106:g.28580C>G mutType nonsense C3base_D0106:g.9143G>T protEffect G335X341 C3base_D0106:g.9143G>T mutType deletion C3base_D0106:g.43362A>G mutType inframe C5base_D0107:g.1067C>T protEffect Q19X C5base_D0107:g.1067C>T mutType nonsense C5base_D0107:g.27854A>G protEffect G334X337 C5base_D0107:g.27854A>G mutType frameshift C5base_D0107:g.88510C>T protEffect R1476X C5base_D0107:g.88510C>T mutType nonsense C6base_D0108:g.18158delC protEffect P79X122 C6base_D0108:g.18158delC mutType frameshift C6base_D0108:g.40140delG protEffect Q274X319 C6base_D0108:g.40140delG mutType frameshift C6base_D0108:g.45142delC protEffect Q380X386 C6base_D0108:g.45142delC mutType frameshift C6base_D0108:g.62884delG protEffect D627X630 C6base_D0108:g.62884delG mutType frameshift C7base_D0109:g.17686_17696del protEffect T211X215 C7base_D0109:g.17686_17696del mutType frameshift C7base_D0109:g.44904_44905delAG protEffect 642_642delins11 C7base_D0109:g.44904_44905delAG mutType frameshift C7base_D0109:g.30614G>A protEffect C475Y C7base_D0109:g.30614G>A mutType missense C7base_D0109:g.17670G>A protEffect W205X C7base_D0109:g.17670G>A mutType nonsense C7base_D0109:g.27844G>C protEffect G379R C7base_D0109:g.27844G>C mutType missense C7base_D0109:g.17714G>A protEffect R220Q C7base_D0109:g.17714G>A mutType missense C7base_D0109:g.30504delA protEffect K438X441 C7base_D0109:g.30504delA mutType frameshift C7base_D0109:g.30648T>A protEffect C486X C7base_D0109:g.30648T>A mutType nonsense C7base_D0109:g.31938C>A protEffect R521S C7base_D0109:g.31938C>A mutType missense C7base_D0109:g.44937G>T protEffect E653X C7base_D0109:g.44937G>T mutType nonsense C7base_D0109:g.45024G>C protEffect E682Q C7base_D0109:g.45024G>C mutType missense C7base_D0109:g.45040G>A protEffect R687H C7base_D0109:g.45040G>A mutType missense C7base_D0109:g.49275_49276delGT protEffect V714X715 C7base_D0109:g.49275_49276delGT mutType frameshift C7base_D0109:g.51345T>A protEffect C750X C7base_D0109:g.51345T>A mutType nonsense C7base_D0109:g.51445delG protEffect A784X808 C7base_D0109:g.51445delG mutType frameshift C8Bbase_D0010:g.10088C>T protEffect Q91X C8Bbase_D0010:g.10088C>T mutType nonsense C8Bbase_D0010:g.26012C>T protEffect R428X C8Bbase_D0010:g.26012C>T mutType nonsense C8Bbase_D0010:g.10153delC protEffect T112X134 C8Bbase_D0010:g.10153delC mutType frameshift C8Bbase_D0010:g.14868delC protEffect P202X206 C8Bbase_D0010:g.14868delC mutType frameshift C8Bbase_D0010:g.10178C>T protEffect R121X C8Bbase_D0010:g.10178C>T mutType nonsense C8Bbase_D0010:g.17378C>T protEffect R274X C8Bbase_D0010:g.17378C>T mutType nonsense C9base_D0110:g.23357C>A protEffect C54X C9base_D0110:g.23357C>A mutType nonsense C9base_D0110:g.24307C>T protEffect R154X C9base_D0110:g.24307C>T mutType nonsense C9base_D0110:g.24193C>T protEffect R116X C9base_D0110:g.24193C>T mutType nonsense C9base_D0110:g.24202T>G protEffect C119G C9base_D0110:g.24202T>G mutType missense C9base_D0110:g.58679C>G protEffect S427X C9base_D0110:g.58679C>G mutType nonsense CASP10base_D0012:g.25946C>T protEffect L242F CASP10base_D0012:g.25946C>T mutType missense CASP10base_D0012:g.27207G>A protEffect V367I CASP10base_D0012:g.27207G>A mutType missense CASP8base_D0013:g.19791C>T protEffect R248W CASP8base_D0013:g.19791C>T mutType missense CD19base_D0112:g.5221dupA protEffect K324X328 CD19base_D0112:g.5221dupA mutType frameshift CD19base_D0112:g.6679_6680delGA protEffect E462X465 CD19base_D0112:g.6679_6680delGA mutType frameshift CD247base_D0115:g.80235C>T protEffect Q70X CD247base_D0115:g.80235C>T mutType nonsense CD247base_D0115:g.86554_86555insC protEffect D139X273 CD247base_D0115:g.86554_86555insC mutType frameshift CD3Dbase_D0014:g.2604C>T protEffect R68X CD3Dbase_D0014:g.2604C>T mutType nonsense CD3Dbase_D0014:g.3149C>A protEffect C93X CD3Dbase_D0014:g.3149C>A mutType nonsense CD3Dbase_D0014:g.3143A>G protEffect 92_136delinsT CD3Dbase_D0014:g.3143A>G mutType inframe CD3Ebase_HSCD3E05:g.87G>A protEffect W57X CD3Ebase_HSCD3E05:g.87G>A mutType nonsense CD3Ebase_HSCD3E06:g.173T>C mutType loss CD3Gbase_HSTCR3G1:g.1380A>G protEffect M1V CD3Gbase_HSTCR3G1:g.1380A>G mutType initiation_codon CD3Gbase_HSTCR3G3:g.27G>C protEffect G27X29 CD3Gbase_HSTCR3G3:g.27G>C mutType loss CD3Gbase_HSTCR3G3:g.153A>T protEffect K69X CD3Gbase_HSTCR3G3:g.153A>T mutType nonsense CD40Lbase_D0015:g.1086C>T protEffect R11X CD40Lbase_D0015:g.1086C>T mutType nonsense CD40Lbase_D0015:g.1127_1128ins protEffect M25X84 CD40Lbase_D0015:g.1127_1128ins mutType frameshift CD40Lbase_D0015:g.1133T>G protEffect Y26X CD40Lbase_D0015:g.1133T>G mutType nonsense CD40Lbase_D0015:g.1162T>G protEffect M36R CD40Lbase_D0015:g.1162T>G mutType missense CD40Lbase_D0015:g.1167G>C protEffect G38R CD40Lbase_D0015:g.1167G>C mutType missense CD40Lbase_D0015:g.1171C>A protEffect S39X CD40Lbase_D0015:g.1171C>A mutType nonsense CD40Lbase_D0015:g.1197A>T protEffect R48X CD40Lbase_D0015:g.1197A>T mutType nonsense CD40Lbase_D0015:g.1211G>A protEffect K52K CD40Lbase_D0015:g.1211G>A mutType missense CD40Lbase_D0015:g.1209A>T protEffect K52X CD40Lbase_D0015:g.1209A>T mutType nonsense CD40Lbase_D0015:g.3073_3076delATAG protEffect I53X65 CD40Lbase_D0015:g.3073_3076delATAG mutType frameshift CD40Lbase_D0015:g.3074_3077delTAGA protEffect I53X65 CD40Lbase_D0015:g.3074_3077delTAGA mutType frameshift CD40Lbase_D0015:g.3082G>T protEffect E56X CD40Lbase_D0015:g.3082G>T mutType nonsense CD40Lbase_D0015:g.3124C>T protEffect Q70X CD40Lbase_D0015:g.3124C>T mutType nonsense CD40Lbase_D0015:g.3124_3125delCA protEffect Q70X84 CD40Lbase_D0015:g.3124_3125delCA mutType frameshift CD40Lbase_D0015:g.3126_3127insT protEffect R71X VAR_025284 disease not phenotype-associated CD40Lbase_D0015:g.3126_3127insT mutType frameshift CD40Lbase_D0015:g.3132C>A protEffect C72X CD40Lbase_D0015:g.3132C>A mutType nonsense CD40Lbase_D0015:g.3142G>T protEffect E76X CD40Lbase_D0015:g.3142G>T mutType nonsense CD40Lbase_D0015:g.3158_3159insT protEffect L81X85 CD40Lbase_D0015:g.3158_3159insT mutType frameshift CD40Lbase_D0015:g.3158dupT protEffect L81X85 CD40Lbase_D0015:g.3158dupT mutType frameshift CD40Lbase_D0015:g.3202A>T protEffect K96X CD40Lbase_D0015:g.3202A>T mutType nonsense CD40Lbase_D0015:g.7185delA protEffect I98X100 CD40Lbase_D0015:g.7185delA mutType frameshift CD40Lbase_D0015:g.7193dupA protEffect N101X112 CD40Lbase_D0015:g.7193dupA mutType frameshift CD40Lbase_D0015:g.7210_7216delAAAGAAA protEffect K107X125 CD40Lbase_D0015:g.7210_7216delAAAGAAA mutType frameshift CD40Lbase_D0015:g.7213G>T protEffect E108X CD40Lbase_D0015:g.7213G>T mutType nonsense CD40Lbase_D0015:g.7214delA protEffect E108X127 CD40Lbase_D0015:g.7214delA mutType frameshift CD40Lbase_D0015:g.7225G>T protEffect E112X CD40Lbase_D0015:g.7225G>T mutType nonsense CD40Lbase_D0015:g.7237G>C protEffect G116R CD40Lbase_D0015:g.7237G>C mutType missense CD40Lbase_D0015:g.7237G>A protEffect D97X108 CD40Lbase_D0015:g.7237G>A mutType frameshift CD40Lbase_D0015:g.9184C>A protEffect A123E CD40Lbase_D0015:g.9184C>A mutType missense CD40Lbase_D0015:g.9183delG protEffect A123X127 CD40Lbase_D0015:g.9183delG mutType frameshift CD40Lbase_D0015:g.9190A>G protEffect H125R CD40Lbase_D0015:g.9190A>G mutType missense CD40Lbase_D0015:g.9193T>C protEffect V126A CD40Lbase_D0015:g.9193T>C mutType missense CD40Lbase_D0015:g.9193T>A protEffect V126D CD40Lbase_D0015:g.9193T>A mutType missense CD40Lbase_D0015:g.9192_9193insA protEffect V126X129 CD40Lbase_D0015:g.9192_9193insA mutType frameshift CD40Lbase_D0015:g.9200T>A protEffect S128R CD40Lbase_D0015:g.9200T>A mutType missense CD40Lbase_D0015:g.9202A>G protEffect E129G CD40Lbase_D0015:g.9202A>G mutType missense CD40Lbase_D0015:g.9197_9198insA protEffect S128X129 CD40Lbase_D0015:g.9197_9198insA mutType frameshift CD40Lbase_D0015:g.9197_9198insG protEffect S128X129 CD40Lbase_D0015:g.9197_9198insG mutType frameshift CD40Lbase_D0015:g.9211_9212insA protEffect S132X133 CD40Lbase_D0015:g.9211_9212insA mutType frameshift CD40Lbase_D0015:g.11845_11846ins12 protEffect 136_137ins4aa CD40Lbase_D0015:g.11845_11846ins12 mutType inframe CD40Lbase_D0015:g.11845_11846ins9 protEffect 136_137ins3aa CD40Lbase_D0015:g.11845_11846ins9 mutType inframe CD40Lbase_D0015:g.11851C>T protEffect Q139X CD40Lbase_D0015:g.11851C>T mutType nonsense CD40Lbase_D0015:g.11856G>T protEffect W140C CD40Lbase_D0015:g.11856G>T mutType missense CD40Lbase_D0015:g.11854T>G protEffect W140G CD40Lbase_D0015:g.11854T>G mutType missense CD40Lbase_D0015:g.11854T>C protEffect W140R CD40Lbase_D0015:g.11854T>C mutType missense CD40Lbase_D0015:g.11855G>A protEffect W140X CD40Lbase_D0015:g.11855G>A mutType nonsense CD40Lbase_D0015:g.11860_11865delGAAAAA protEffect E142_K143del CD40Lbase_D0015:g.11860_11865delGAAAAA mutType inframe CD40Lbase_D0015:g.11864A>C protEffect K143T CD40Lbase_D0015:g.11864A>C mutType missense CD40Lbase_D0015:g.11867G>A protEffect G144E CD40Lbase_D0015:g.11867G>A mutType missense CD40Lbase_D0015:g.11865_11866insA protEffect 144_144delins21 CD40Lbase_D0015:g.11865_11866insA mutType frameshift CD40Lbase_D0015:g.11871C>A protEffect Y145X CD40Lbase_D0015:g.11871C>A mutType nonsense CD40Lbase_D0015:g.11869_11871delTAC protEffect Y145del CD40Lbase_D0015:g.11869_11871delTAC mutType inframe CD40Lbase_D0015:g.11876C>A protEffect T147N CD40Lbase_D0015:g.11876C>A mutType missense CD40Lbase_D0015:g.11880_11884delGAGCA protEffect M148X162 CD40Lbase_D0015:g.11880_11884delGAGCA mutType frameshift CD40Lbase_D0015:g.11900T>C protEffect L155P CD40Lbase_D0015:g.11900T>C mutType missense CD40Lbase_D0015:g.11908delG protEffect G158X161 CD40Lbase_D0015:g.11908delG mutType frameshift CD40Lbase_D0015:g.11931delA protEffect R165X190 CD40Lbase_D0015:g.11931delA mutType frameshift CD40Lbase_D0015:g.11932C>T protEffect Q166X CD40Lbase_D0015:g.11932C>T mutType nonsense CD40Lbase_D0015:g.11935G>T protEffect G167X CD40Lbase_D0015:g.11935G>T mutType nonsense CD40Lbase_D0015:g.11941T>G protEffect Y169D CD40Lbase_D0015:g.11941T>G mutType missense CD40Lbase_D0015:g.11941T>A protEffect Y169N CD40Lbase_D0015:g.11941T>A mutType missense CD40Lbase_D0015:g.11945A>G protEffect Y170C CD40Lbase_D0015:g.11945A>G mutType missense CD40Lbase_D0015:g.11944_11952delTATATCTAT protEffect Y170_Y172del CD40Lbase_D0015:g.11944_11952delTATATCTAT mutType inframe CD40Lbase_D0015:g.11947_11949delATC protEffect I171del CD40Lbase_D0015:g.11947_11949delATC mutType inframe CD40Lbase_D0015:g.11947_11948delAT protEffect I171X199 CD40Lbase_D0015:g.11947_11948delAT mutType frameshift CD40Lbase_D0015:g.11954C>A protEffect A173D CD40Lbase_D0015:g.11954C>A mutType missense CD40Lbase_D0015:g.11957A>G protEffect Q174R CD40Lbase_D0015:g.11957A>G mutType missense CD40Lbase_D0015:g.11956C>T protEffect Q174X CD40Lbase_D0015:g.11956C>T mutType nonsense CD40Lbase_D0015:g.11957_11958delAA protEffect Q174X199 CD40Lbase_D0015:g.11957_11958delAA mutType frameshift CD40Lbase_D0015:g.11963C>T protEffect T176I CD40Lbase_D0015:g.11963C>T mutType missense CD40Lbase_D0015:g.11975delA protEffect 180_180delins11 CD40Lbase_D0015:g.11975delA mutType frameshift CD40Lbase_D0015:g.11982_11983insATA protEffect 182_183insI CD40Lbase_D0015:g.11982_11983insATA mutType inframe CD40Lbase_D0015:g.11987C>A protEffect S184X CD40Lbase_D0015:g.11987C>A mutType nonsense CD40Lbase_D0015:g.11992C>T protEffect Q186X CD40Lbase_D0015:g.11992C>T mutType nonsense CD40Lbase_D0015:g.11995delG protEffect A187X190 CD40Lbase_D0015:g.11995delG mutType frameshift CD40Lbase_D0015:g.12013_12014insCT protEffect L193X196 CD40Lbase_D0015:g.12013_12014insCT mutType frameshift CD40Lbase_D0015:g.12013_12014insCAGCC protEffect L193X197 CD40Lbase_D0015:g.12013_12014insCAGCC mutType frameshift CD40Lbase_D0015:g.12020T>C protEffect L195P CD40Lbase_D0015:g.12020T>C mutType missense CD40Lbase_D0015:g.12025delT protEffect S197X241 CD40Lbase_D0015:g.12025delT mutType frameshift CD40Lbase_D0015:g.12034A>T protEffect R200X CD40Lbase_D0015:g.12034A>T mutType nonsense CD40Lbase_D0015:g.12040G>T protEffect E202X CD40Lbase_D0015:g.12040G>T mutType nonsense CD40Lbase_D0015:g.12040_12041insA protEffect E202X230 CD40Lbase_D0015:g.12040_12041insA mutType frameshift CD40Lbase_D0015:g.12044G>T protEffect R203I CD40Lbase_D0015:g.12044G>T mutType missense CD40Lbase_D0015:g.12059C>A protEffect A208D CD40Lbase_D0015:g.12059C>A mutType missense CD40Lbase_D0015:g.12072_12073delCA protEffect H212X229 CD40Lbase_D0015:g.12072_12073delCA mutType frameshift CD40Lbase_D0015:g.12090C>A protEffect C218X CD40Lbase_D0015:g.12090C>A mutType nonsense CD40Lbase_D0015:g.12087_12088insT protEffect C218X230 CD40Lbase_D0015:g.12087_12088insT mutType frameshift CD40Lbase_D0015:g.12094C>T protEffect Q220X CD40Lbase_D0015:g.12094C>T mutType nonsense CD40Lbase_D0015:g.12097C>T protEffect Q221X CD40Lbase_D0015:g.12097C>T mutType nonsense CD40Lbase_D0015:g.12101C>T protEffect S222F CD40Lbase_D0015:g.12101C>T mutType missense CD40Lbase_D0015:g.12106C>T protEffect H224Y CD40Lbase_D0015:g.12106C>T mutType missense CD40Lbase_D0015:g.12113G>C protEffect G226A CD40Lbase_D0015:g.12113G>C mutType missense CD40Lbase_D0015:g.12116G>T protEffect G227V CD40Lbase_D0015:g.12116G>T mutType missense CD40Lbase_D0015:g.12115_12117delGGA protEffect G227del CD40Lbase_D0015:g.12115_12117delGGA mutType inframe CD40Lbase_D0015:g.12119_12120insATT protEffect V228X263 CD40Lbase_D0015:g.12119_12120insATT mutType frameshift CD40Lbase_D0015:g.12128T>C protEffect L231S CD40Lbase_D0015:g.12128T>C mutType missense CD40Lbase_D0015:g.12130C>T protEffect Q232X CD40Lbase_D0015:g.12130C>T mutType nonsense CD40Lbase_D0015:g.12139G>C protEffect A235P CD40Lbase_D0015:g.12139G>C mutType missense CD40Lbase_D0015:g.12143C>A protEffect S236X CD40Lbase_D0015:g.12143C>A mutType nonsense CD40Lbase_D0015:g.12146T>A protEffect V237E CD40Lbase_D0015:g.12146T>A mutType missense CD40Lbase_D0015:g.12145_12146insC protEffect V237X243 CD40Lbase_D0015:g.12145_12146insC mutType frameshift CD40Lbase_D0015:g.12162_12163delTG protEffect T242X284 CD40Lbase_D0015:g.12162_12163delTG mutType frameshift CD40Lbase_D0015:g.12197C>T protEffect T254M CD40Lbase_D0015:g.12197C>T mutType missense CD40Lbase_D0015:g.12206G>A protEffect G257D CD40Lbase_D0015:g.12206G>A mutType missense CD40Lbase_D0015:g.12205G>A protEffect G257S CD40Lbase_D0015:g.12205G>A mutType missense CD40Lbase_D0015:g.12209T>C protEffect L258S CD40Lbase_D0015:g.12209T>C mutType missense CD40Lbase_D0015:g.12212delT protEffect L259X312 CD40Lbase_D0015:g.12212delT mutType frameshift CD40Lbase_D0015:g.865A>C mutType upstream CD40Lbase_D0015:g.1212G>T protEffect M25X26 CD40Lbase_D0015:g.1212G>T mutType frameshift CD40Lbase_D0015:g.1212G>A protEffect M25X26 CD40Lbase_D0015:g.1212G>A mutType frameshift CD40Lbase_D0015:g.3068_3076delAATAGATAG protEffect I53X65 CD40Lbase_D0015:g.3068_3076delAATAGATAG mutType frameshift CD40Lbase_D0015:g.3069_3076delATAGATAG protEffect I53X65 CD40Lbase_D0015:g.3069_3076delATAGATAG mutType frameshift CD40Lbase_D0015:g.3205G>A protEffect I53_K96del CD40Lbase_D0015:g.3205G>A mutType inframe CD40Lbase_D0015:g.3206T>A protEffect I53_K96del CD40Lbase_D0015:g.3206T>A mutType inframe CD40Lbase_D0015:g.7242G>A protEffect D97X108 CD40Lbase_D0015:g.7242G>A mutType frameshift CD40Lbase_D0015:g.9162G>A protEffect 116_137delinsV CD40Lbase_D0015:g.9162G>A mutType inframe CD40Lbase_D0015:g.7238G>A protEffect D97X108 CD40Lbase_D0015:g.7238G>A mutType frameshift CD40Lbase_D0015:g.9162G>C mutType inframe CD40Lbase_D0015:g.8248A>T protEffect G116X127 CD40Lbase_D0015:g.8248A>T mutType frameshift CD40Lbase_D0015:g.11845delG protEffect V137X139 CD40Lbase_D0015:g.11845delG mutType frameshift CD40Lbase_D0015:g.9226G>C protEffect 116_137delinsV CD40Lbase_D0015:g.9226G>C mutType inframe CD40Lbase_D0015:g.9227T>C protEffect 116_137delinsV CD40Lbase_D0015:g.9227T>C mutType inframe CD55base_D0104:g.2023G>A protEffect W87X CD55base_D0104:g.2023G>A mutType nonsense CD55base_D0104:g.5132C>T protEffect R170X CD55base_D0104:g.5132C>T mutType nonsense CD55base_D0104:g.6250C>T protEffect S199L CD55base_D0104:g.6250C>T mutType missense CD55base_D0104:g.2025C>A protEffect W87X88 CD55base_D0104:g.2025C>A mutType deletion CD59base_D0016:g.20063delC protEffect A41X79 CD59base_D0016:g.20063delC mutType frameshift CD79Abase_D0017:g.2924A>G protEffect Q127X141 CD79Abase_D0017:g.2924A>G mutType frameshift CD79Bbase_D0126:g.2550G>A protEffect G138S CD79Bbase_D0126:g.2550G>A mutType missense CD8Abase_D0018:g.1044G>A protEffect G111S CD8Abase_D0018:g.1044G>A mutType missense CD8Abase_M27161.1:g.1044G>A protEffect G111S CD8Abase_M27161.1:g.1044G>A mutType missense CEBPEbase_D0019:g.2063_2067delTGACC protEffect P83X202 CEBPEbase_D0019:g.2063_2067delTGACC mutType frameshift CEBPEbase_D0019:g.2323dupA protEffect K170X204 CEBPEbase_D0019:g.2323dupA mutType frameshift CEBPEbase_D0019:g.3225T>C protEffect V218A CEBPEbase_D0019:g.3225T>C mutType missense CFDbase_D0027:g.317660C>A protEffect S42X CFDbase_D0027:g.317660C>A mutType nonsense CFDbase_D0027:g.320088T>G protEffect V213G CFDbase_D0027:g.320088T>G mutType missense CFDbase_D0027:g.320090T>C protEffect C214R CFDbase_D0027:g.320090T>C mutType missense CFHbase_D0040:g.51581A>G protEffect R78G CFHbase_D0040:g.51581A>G mutType missense CFIbase_D0040:g.56741C>T protEffect R474X CFIbase_D0040:g.56741C>T mutType nonsense CFIbase_D0040:g.42449G>A protEffect 220_258delinsA CFIbase_D0040:g.42449G>A mutType inframe CFIbase_D0040:g.56574A>T protEffect H418L CFIbase_D0040:g.56574A>T mutType missense CFPbase_D0066:g.3781C>T protEffect R79X CFPbase_D0066:g.3781C>T mutType nonsense CFPbase_D0066:g.3844C>T protEffect R100W CFPbase_D0066:g.3844C>T mutType missense CFPbase_D0066:g.4487C>T protEffect R161X CFPbase_D0066:g.4487C>T mutType nonsense CFPbase_D0066:g.4565C>T protEffect Q187X CFPbase_D0066:g.4565C>T mutType nonsense CFPbase_D0066:g.4761C>G protEffect S206X CFPbase_D0066:g.4761C>G mutType nonsense CFPbase_D0066:g.4814_4815delTG protEffect C224X227 CFPbase_D0066:g.4814_4815delTG mutType frameshift CFPbase_D0066:g.5121_5128delGCCTTGGG protEffect G261X353 CFPbase_D0066:g.5121_5128delGCCTTGGG mutType frameshift CFPbase_D0066:g.5231G>T protEffect G298V CFPbase_D0066:g.5231G>T mutType missense CFPbase_D0066:g.5552T>G protEffect W321G CFPbase_D0066:g.5552T>G mutType missense CFPbase_D0066:g.5553G>C protEffect W321S CFPbase_D0066:g.5553G>C mutType missense CFPbase_D0066:g.5619A>G protEffect Q343R CFPbase_D0066:g.5619A>G mutType missense CFPbase_D0066:g.5627C>T protEffect R346C CFPbase_D0066:g.5627C>T mutType missense CIITAbase_D0058:g.31469G>T protEffect E381X CIITAbase_D0058:g.31469G>T mutType nonsense CIITAbase_D0058:g.47354G>A protEffect 1078_1106delinsE CIITAbase_D0058:g.47354G>A mutType inframe CIITAbase_D0058:g.31734T>C protEffect L469P CIITAbase_D0058:g.31734T>C mutType missense CIITAbase_D0058:g.32391G>A protEffect W688X CIITAbase_D0058:g.32391G>A mutType nonsense CIITAbase_D0058:g.35092T>C protEffect F962S CIITAbase_D0058:g.35092T>C mutType missense CIITAbase_D0058:g.43309_43311delCAT protEffect 1026_1027delinsN CIITAbase_D0058:g.43309_43311delCAT mutType inframe CIITAbase_D0058:g.47109_47120del protEffect 1050_1078delinsS CIITAbase_D0058:g.47109_47120del mutType inframe CTSCbase_D0022:g.1170C>A protEffect C24X CTSCbase_D0022:g.1170C>A mutType nonsense CTSCbase_D0022:g.26313G>A protEffect G139R CTSCbase_D0022:g.26313G>A mutType missense CTSCbase_D0022:g.1188C>A protEffect C30X CTSCbase_D0022:g.1188C>A mutType nonsense CTSCbase_D0022:g.1194T>G protEffect Y32X CTSCbase_D0022:g.1194T>G mutType nonsense CTSCbase_D0022:g.26278A>C protEffect H127P CTSCbase_D0022:g.26278A>C mutType missense CTSCbase_D0022:g.42564G>C protEffect R272P CTSCbase_D0022:g.42564G>C mutType missense CTSCbase_D0022:g.1211_1214delCCTG protEffect T38X63 CTSCbase_D0022:g.1211_1214delCCTG mutType frameshift CTSCbase_D0022:g.42600G>A protEffect S284N CTSCbase_D0022:g.42600G>A mutType missense CTSCbase_D0022:g.1214G>C protEffect W39S CTSCbase_D0022:g.1214G>C mutType missense CTSCbase_D0022:g.1243C>T protEffect Q49X CTSCbase_D0022:g.1243C>T mutType nonsense CTSCbase_D0022:g.3715_3738del protEffect Y67_A74del CTSCbase_D0022:g.3715_3738del mutType inframe CTSCbase_D0022:g.3721C>T protEffect Q69X CTSCbase_D0022:g.3721C>T mutType nonsense CTSCbase_D0022:g.38241G>A protEffect A253X282 CTSCbase_D0022:g.38241G>A mutType splicing CTSCbase_D0022:g.44529G>C protEffect G386R CTSCbase_D0022:g.44529G>C mutType missense CTSCbase_D0022:g.44514delC protEffect L381X393 CTSCbase_D0022:g.44514delC mutType frameshift CTSCbase_D0022:g.38190G>T protEffect D236Y CTSCbase_D0022:g.38190G>T mutType missense CTSCbase_D0022:g.42527T>C protEffect S260P CTSCbase_D0022:g.42527T>C mutType missense CTSCbase_D0022:g.26342_26343insATGT protEffect V149X158 CTSCbase_D0022:g.26342_26343insATGT mutType frameshift CTSCbase_D0022:g.29522G>A protEffect W185X CTSCbase_D0022:g.29522G>A mutType nonsense CTSCbase_D0022:g.29533_29539delCATACAT protEffect 189_191delins11 CTSCbase_D0022:g.29533_29539delCATACAT mutType frameshift CTSCbase_D0022:g.29554T>C protEffect L196P CTSCbase_D0022:g.29554T>C mutType missense CTSCbase_D0022:g.29589dupC protEffect H208X223 CTSCbase_D0022:g.29589dupC mutType frameshift CTSCbase_D0022:g.29595C>T protEffect R210X CTSCbase_D0022:g.29595C>T mutType nonsense CTSCbase_D0022:g.29596_29597delGA protEffect R210X222 CTSCbase_D0022:g.29596_29597delGA mutType frameshift CTSCbase_D0022:g.38188G>A protEffect W235X CTSCbase_D0022:g.38188G>A mutType nonsense CTSCbase_D0022:g.42621G>A protEffect C291Y CTSCbase_D0022:g.42621G>A mutType missense CTSCbase_D0022:g.38229G>T protEffect V249F CTSCbase_D0022:g.38229G>T mutType missense CTSCbase_D0022:g.38232C>T protEffect R250X CTSCbase_D0022:g.38232C>T mutType nonsense CTSCbase_D0022:g.38239A>T protEffect Q252L CTSCbase_D0022:g.38239A>T mutType missense CTSCbase_D0022:g.42564G>A protEffect R272H CTSCbase_D0022:g.42564G>A mutType missense CTSCbase_D0022:g.44608A>G protEffect Y412C CTSCbase_D0022:g.44608A>G mutType missense CTSCbase_D0022:g.42606A>G protEffect Q286R CTSCbase_D0022:g.42606A>G mutType missense CTSCbase_D0022:g.42605C>T protEffect Q286X CTSCbase_D0022:g.42605C>T mutType nonsense CTSCbase_D0022:g.42629T>C protEffect Y294H CTSCbase_D0022:g.42629T>C mutType missense CTSCbase_D0022:g.44271G>A protEffect G300S CTSCbase_D0022:g.44271G>A mutType missense CTSCbase_D0022:g.44713A>G protEffect E447G CTSCbase_D0022:g.44713A>G mutType missense CTSCbase_D0022:g.44274G>A protEffect G301S CTSCbase_D0022:g.44274G>A mutType missense CTSCbase_D0022:g.44275G>T protEffect G301V CTSCbase_D0022:g.44275G>T mutType missense CTSCbase_D0022:g.44283T>A protEffect Y304N CTSCbase_D0022:g.44283T>A mutType missense CTSCbase_D0022:g.44285C>A protEffect Y304X CTSCbase_D0022:g.44285C>A mutType nonsense CTSCbase_D0022:g.44308A>G protEffect Q312R CTSCbase_D0022:g.44308A>G mutType missense CTSCbase_D0022:g.44320T>G protEffect L316R CTSCbase_D0022:g.44320T>G mutType missense CTSCbase_D0022:g.44641G>C protEffect W423S CTSCbase_D0022:g.44641G>C mutType missense CTSCbase_D0022:g.44329A>G protEffect E319G CTSCbase_D0022:g.44329A>G mutType missense CTSCbase_D0022:g.44357_44363delTTCTCCA protEffect D328X331 CTSCbase_D0022:g.44357_44363delTTCTCCA mutType frameshift CTSCbase_D0022:g.44388C>T protEffect R339C CTSCbase_D0022:g.44388C>T mutType missense CTSCbase_D0022:g.44401_44402delCT protEffect S343X CTSCbase_D0022:g.44401_44402delCT mutType nonsense CTSCbase_D0022:g.44413A>G protEffect Y347C CTSCbase_D0022:g.44413A>G mutType missense CTSCbase_D0022:g.44420delA protEffect 349_349delins11 CTSCbase_D0022:g.44420delA mutType frameshift CTSCbase_D0022:g.44429delT protEffect Y352X CTSCbase_D0022:g.44429delT mutType nonsense CTSCbase_D0022:g.44660G>C protEffect W429C CTSCbase_D0022:g.44660G>C mutType missense CTSCbase_D0022:g.44586C>A protEffect H405N CTSCbase_D0022:g.44586C>A mutType missense CTSCbase_D0022:g.44587A>G protEffect H405R CTSCbase_D0022:g.44587A>G mutType missense CTSCbase_D0022:g.44586_44588delCAT protEffect H405del CTSCbase_D0022:g.44586_44588delCAT mutType inframe CTSCbase_D0022:g.44659G>A protEffect W429X CTSCbase_D0022:g.44659G>A mutType nonsense CXCR4base_D0023:g.4169C>T protEffect R334X CXCR4base_D0023:g.4169C>T mutType nonsense CXCR4base_D0023:g.4175G>T protEffect G336X CXCR4base_D0023:g.4175G>T mutType nonsense CXCR4base_D0023:g.4182C>G protEffect S338X CXCR4base_D0023:g.4182C>G mutType nonsense CXCR4base_D0023:g.4185_4186delCT protEffect S339X342 CXCR4base_D0023:g.4185_4186delCT mutType frameshift CXCR4base_D0023:g.4196G>T protEffect E343X CXCR4base_D0023:g.4196G>T mutType nonsense CYBAbase_D0024:g.1035C>T protEffect Q3X CYBAbase_D0024:g.1035C>T mutType nonsense CYBAbase_D0024:g.3943G>T protEffect G25V CYBAbase_D0024:g.3943G>T mutType missense CYBAbase_D0024:g.1054G>A protEffect W9X CYBAbase_D0024:g.1054G>A mutType nonsense CYBAbase_D0024:g.1055G>A protEffect W9X CYBAbase_D0024:g.1055G>A mutType nonsense CYBAbase_D0024:g.3939G>A protEffect G24R CYBAbase_D0024:g.3939G>A mutType missense CYBAbase_D0024:g.8472C>T protEffect A124V CYBAbase_D0024:g.8472C>T mutType missense CYBAbase_D0024:g.3976G>A protEffect W36X CYBAbase_D0024:g.3976G>A mutType nonsense CYBAbase_D0024:g.4893T>C protEffect L52P CYBAbase_D0024:g.4893T>C mutType missense CYBAbase_D0024:g.4896A>T protEffect E53V CYBAbase_D0024:g.4896A>T mutType missense CYBAbase_D0024:g.4909_4910insG protEffect K58X212 CYBAbase_D0024:g.4909_4910insG mutType frameshift CYBAbase_D0024:g.4904_4905insC protEffect R56X212 CYBAbase_D0024:g.4904_4905insC mutType frameshift CYBAbase_D0024:g.5268C>T protEffect R90W CYBAbase_D0024:g.5268C>T mutType missense CYBAbase_D0024:g.5246delC protEffect P82X190 CYBAbase_D0024:g.5246delC mutType frameshift CYBAbase_D0024:g.5269G>A protEffect R90Q CYBAbase_D0024:g.5269G>A mutType missense CYBAbase_D0024:g.5281A>G protEffect H94R CYBAbase_D0024:g.5281A>G mutType missense CYBAbase_D0024:g.5852_5858delGTGCCCG protEffect V99X188 CYBAbase_D0024:g.5852_5858delGTGCCCG mutType frameshift CYBAbase_D0024:g.5911C>A protEffect S118R CYBAbase_D0024:g.5911C>A mutType missense CYBAbase_D0024:g.8568C>A protEffect P156Q CYBAbase_D0024:g.8568C>A mutType missense CYBAbase_D0024:g.8573_8585del protEffect R158X186 CYBAbase_D0024:g.8573_8585del mutType frameshift CYBAbase_D0024:g.5830_5865del protEffect L96X243 CYBAbase_D0024:g.5830_5865del mutType indel CYBBbase_D0025:g.1016T>A protEffect M1K CYBBbase_D0025:g.1016T>A mutType missense CYBBbase_D0025:g.1016T>G protEffect M1R CYBBbase_D0025:g.1016T>G mutType missense CYBBbase_D0025:g.1015A>G protEffect M1V CYBBbase_D0025:g.1015A>G mutType missense CYBBbase_D0025:g.1020_1021insG protEffect N3X8 CYBBbase_D0025:g.1020_1021insG mutType frameshift CYBBbase_D0025:g.1026G>A protEffect W4X CYBBbase_D0025:g.1026G>A mutType nonsense CYBBbase_D0025:g.1025G>A protEffect W4X CYBBbase_D0025:g.1025G>A mutType nonsense CYBBbase_D0025:g.1028_1041del protEffect A5X29 CYBBbase_D0025:g.1028_1041del mutType frameshift CYBBbase_D0025:g.1037_1038insAGGG protEffect E8X35 CYBBbase_D0025:g.1037_1038insAGGG mutType frameshift CYBBbase_D0025:g.1041dupG protEffect L10X34 CYBBbase_D0025:g.1041dupG mutType frameshift CYBBbase_D0025:g.1054delG protEffect V14X21 CYBBbase_D0025:g.1054delG mutType frameshift CYBBbase_D0025:g.3026delT protEffect L16X21 CYBBbase_D0025:g.3026delT mutType frameshift CYBBbase_D0025:g.3028delG protEffect V17X21 CYBBbase_D0025:g.3028delG mutType frameshift CYBBbase_D0025:g.3033G>C protEffect W18C CYBBbase_D0025:g.3033G>C mutType missense CYBBbase_D0025:g.3032G>A protEffect W18X CYBBbase_D0025:g.3032G>A mutType nonsense CYBBbase_D0025:g.3031T>A protEffect W18R CYBBbase_D0025:g.3031T>A mutType missense CYBBbase_D0025:g.3031T>T protEffect W18W CYBBbase_D0025:g.3031T>T mutType missense CYBBbase_D0025:g.3031_3032insT protEffect W18X34 CYBBbase_D0025:g.3031_3032insT mutType frameshift CYBBbase_D0025:g.3037G>C protEffect G20R CYBBbase_D0025:g.3037G>C mutType missense CYBBbase_D0025:g.3045_3046insAACG protEffect V23X35 CYBBbase_D0025:g.3045_3046insAACG mutType frameshift CYBBbase_D0025:g.3059_3062delTCTG protEffect V27X59 CYBBbase_D0025:g.3059_3062delTCTG mutType frameshift CYBBbase_D0025:g.3063G>A protEffect W28X CYBBbase_D0025:g.3063G>A mutType nonsense CYBBbase_D0025:g.3062G>A protEffect W28X CYBBbase_D0025:g.3062G>A mutType nonsense CYBBbase_D0025:g.3078T>A protEffect Y33X CYBBbase_D0025:g.3078T>A mutType nonsense CYBBbase_D0025:g.3100T>G protEffect Y41D CYBBbase_D0025:g.3100T>G mutType missense CYBBbase_D0025:g.3100delT protEffect Y41X60 CYBBbase_D0025:g.3100delT mutType frameshift CYBBbase_D0025:g.3100_3101insT protEffect Y41X102 CYBBbase_D0025:g.3100_3101insT mutType frameshift CYBBbase_D0025:g.3106A>T protEffect R43X CYBBbase_D0025:g.3106A>T mutType nonsense CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT protEffect 48_53delinsPAXIS CYBBbase_D0025:g.4427_4444delinsCCTGCCTGAATTTCT mutType inframe CYBBbase_D0025:g.4443C>A protEffect A53D CYBBbase_D0025:g.4443C>A mutType missense CYBBbase_D0025:g.4442_4443insC protEffect A53X102 CYBBbase_D0025:g.4442_4443insC mutType frameshift CYBBbase_D0025:g.4445A>G protEffect R54G CYBBbase_D0025:g.4445A>G mutType missense CYBBbase_D0025:g.4446G>T protEffect R54M CYBBbase_D0025:g.4446G>T mutType missense CYBBbase_D0025:g.4447G>C protEffect R54S CYBBbase_D0025:g.4447G>C mutType missense CYBBbase_D0025:g.4449C>A protEffect A55D CYBBbase_D0025:g.4449C>A mutType missense CYBBbase_D0025:g.4452C>T protEffect P56L CYBBbase_D0025:g.4452C>T mutType missense CYBBbase_D0025:g.4455C>A protEffect A57E CYBBbase_D0025:g.4455C>A mutType missense CYBBbase_D0025:g.4461G>T protEffect C59F CYBBbase_D0025:g.4461G>T mutType missense CYBBbase_D0025:g.4460T>C protEffect C59R CYBBbase_D0025:g.4460T>C mutType missense CYBBbase_D0025:g.4462C>G protEffect C59W CYBBbase_D0025:g.4462C>G mutType missense CYBBbase_D0025:g.4461G>A protEffect C59Y CYBBbase_D0025:g.4461G>A mutType missense CYBBbase_D0025:g.4467_4472delATTTCA protEffect 61_63delinsN CYBBbase_D0025:g.4467_4472delATTTCA mutType inframe CYBBbase_D0025:g.4474C>G protEffect N63K CYBBbase_D0025:g.4474C>G mutType missense CYBBbase_D0025:g.4475T>C protEffect C64R CYBBbase_D0025:g.4475T>C mutType missense CYBBbase_D0025:g.4477C>A protEffect C64X CYBBbase_D0025:g.4477C>A mutType nonsense CYBBbase_D0025:g.4480_4481insG protEffect L66X102 CYBBbase_D0025:g.4480_4481insG mutType frameshift CYBBbase_D0025:g.4502C>T protEffect R73X CYBBbase_D0025:g.4502C>T mutType nonsense CYBBbase_D0025:g.4527delG protEffect G81X107 CYBBbase_D0025:g.4527delG mutType frameshift CYBBbase_D0025:g.4537G>A protEffect S48_A84del CYBBbase_D0025:g.4537G>A mutType inframe CYBBbase_CYBB_DNA:g.4537G>A mutType silent CYBBbase_D0025:g.4536delC protEffect A84X107 CYBBbase_D0025:g.4536delC mutType frameshift CYBBbase_D0025:g.12910C>A protEffect C85X CYBBbase_D0025:g.12910C>A mutType nonsense CYBBbase_D0025:g.12950delA protEffect T99X107 CYBBbase_D0025:g.12950delA mutType frameshift CYBBbase_D0025:g.12957A>G protEffect H101R CYBBbase_D0025:g.12957A>G mutType missense CYBBbase_D0025:g.12956C>T protEffect H101Y CYBBbase_D0025:g.12956C>T mutType missense CYBBbase_D0025:g.12973G>A protEffect W106X CYBBbase_D0025:g.12973G>A mutType nonsense CYBBbase_D0025:g.12975T>G protEffect M107R CYBBbase_D0025:g.12975T>G mutType missense CYBBbase_D0025:g.12976_12977insG protEffect I108X122 CYBBbase_D0025:g.12976_12977insG mutType frameshift CYBBbase_D0025:g.12981_12982delCA protEffect A109X121 CYBBbase_D0025:g.12981_12982delCA mutType frameshift CYBBbase_D0025:g.14605C>A protEffect H115Q CYBBbase_D0025:g.14605C>A mutType missense CYBBbase_D0025:g.14603C>T protEffect H115Y CYBBbase_D0025:g.14603C>T mutType missense CYBBbase_D0025:g.14614delA protEffect A118X127 CYBBbase_D0025:g.14614delA mutType frameshift CYBBbase_D0025:g.14616A>G protEffect H119R CYBBbase_D0025:g.14616A>G mutType missense CYBBbase_D0025:g.14616_14617insA protEffect H119X122 CYBBbase_D0025:g.14616_14617insA mutType frameshift CYBBbase_D0025:g.14619T>C protEffect L120P CYBBbase_D0025:g.14619T>C mutType missense CYBBbase_D0025:g.14635G>T protEffect W125C CYBBbase_D0025:g.14635G>T mutType missense CYBBbase_D0025:g.14635G>A protEffect W125X CYBBbase_D0025:g.14635G>A mutType nonsense CYBBbase_D0025:g.14648C>T protEffect R130X CYBBbase_D0025:g.14648C>T mutType nonsense CYBBbase_D0025:g.14648_14649insT protEffect R130X133 CYBBbase_D0025:g.14648_14649insT mutType frameshift CYBBbase_D0025:g.14655delA protEffect N132X139 CYBBbase_D0025:g.14655delA mutType frameshift CYBBbase_D0025:g.14682T>C protEffect L141P CYBBbase_D0025:g.14682T>C mutType missense CYBBbase_D0025:g.14684T>C protEffect S142P CYBBbase_D0025:g.14684T>C mutType missense CYBBbase_D0025:g.14702C>T protEffect Q148X CYBBbase_D0025:g.14702C>T mutType nonsense CYBBbase_D0025:g.14706_14707insA protEffect N149X150 CYBBbase_D0025:g.14706_14707insA mutType frameshift CYBBbase_D0025:g.14716T>A protEffect Y152X CYBBbase_D0025:g.14716T>A mutType nonsense CYBBbase_D0025:g.14715_14716delAT protEffect Y152X163 CYBBbase_D0025:g.14715_14716delAT mutType frameshift CYBBbase_D0025:g.14726G>A protEffect A156T CYBBbase_D0025:g.14726G>A mutType missense CYBBbase_D0025:g.14729C>T protEffect R157X CYBBbase_D0025:g.14729C>T mutType nonsense CYBBbase_D0025:g.14732_14735delAAGA protEffect K158X159 CYBBbase_D0025:g.14732_14735delAAGA mutType frameshift CYBBbase_D0025:g.14739_14740insT protEffect I160X164 CYBBbase_D0025:g.14739_14740insT mutType frameshift CYBBbase_D0025:g.14743G>T protEffect K161N CYBBbase_D0025:g.14743G>T mutType missense CYBBbase_D0025:g.14742A>G protEffect K161R CYBBbase_D0025:g.14742A>G mutType missense CYBBbase_D0025:g.16917delC protEffect L173X188 CYBBbase_D0025:g.16917delC mutType frameshift CYBBbase_D0025:g.16935G>A protEffect G179R CYBBbase_D0025:g.16935G>A mutType missense CYBBbase_D0025:g.16955C>A protEffect C185X CYBBbase_D0025:g.16955C>A mutType nonsense CYBBbase_D0025:g.16954delG protEffect C185X188 CYBBbase_D0025:g.16954delG mutType frameshift CYBBbase_D0025:g.16960_16961insCCTCAT protEffect 187_187delinsILI CYBBbase_D0025:g.16960_16961insCCTCAT mutType inframe CYBBbase_D0025:g.16960_16961dupCCTCAT protEffect 187_187delinsILI CYBBbase_D0025:g.16960_16961dupCCTCAT mutType inframe CYBBbase_D0025:g.16965_16968delATTA protEffect I189X212 CYBBbase_D0025:g.16965_16968delATTA mutType frameshift CYBBbase_D0025:g.16978C>T protEffect S193F CYBBbase_D0025:g.16978C>T mutType missense CYBBbase_D0025:g.16995delA protEffect R199X213 CYBBbase_D0025:g.16995delA mutType frameshift CYBBbase_D0025:g.17003delC protEffect Y201X213 CYBBbase_D0025:g.17003delC mutType frameshift CYBBbase_D0025:g.17007G>T protEffect E203X CYBBbase_D0025:g.17007G>T mutType nonsense CYBBbase_D0025:g.17013T>A protEffect F205I CYBBbase_D0025:g.17013T>A mutType missense CYBBbase_D0025:g.17021C>A protEffect Y207X CYBBbase_D0025:g.17021C>A mutType nonsense CYBBbase_D0025:g.17027T>A protEffect H209Q CYBBbase_D0025:g.17027T>A mutType missense CYBBbase_D0025:g.17026A>G protEffect H209R CYBBbase_D0025:g.17026A>G mutType missense CYBBbase_D0025:g.17025C>T protEffect H209Y CYBBbase_D0025:g.17025C>T mutType missense CYBBbase_D0025:g.17025_17026delCA protEffect H209X224 CYBBbase_D0025:g.17025_17026delCA mutType frameshift CYBBbase_D0025:g.17031_17032dupCATC protEffect L211X226 CYBBbase_D0025:g.17031_17032dupCATC mutType frameshift CYBBbase_D0025:g.17046_17048delTTC protEffect F216del CYBBbase_D0025:g.17046_17048delTTC mutType inframe CYBBbase_D0025:g.17064C>A protEffect H222N CYBBbase_D0025:g.17064C>A mutType missense CYBBbase_D0025:g.17065A>G protEffect H222R CYBBbase_D0025:g.17065A>G mutType missense CYBBbase_D0025:g.17064C>T protEffect H222Y CYBBbase_D0025:g.17064C>T mutType missense CYBBbase_D0025:g.17067G>T protEffect G223X CYBBbase_D0025:g.17067G>T mutType nonsense CYBBbase_D0025:g.17071C>G protEffect A224G CYBBbase_D0025:g.17071C>G mutType missense CYBBbase_D0025:g.19889C>T protEffect R226X CYBBbase_D0025:g.19889C>T mutType nonsense CYBBbase_D0025:g.19904C>T protEffect Q231X CYBBbase_D0025:g.19904C>T mutType nonsense CYBBbase_D0025:g.19913G>T protEffect E234X CYBBbase_D0025:g.19913G>T mutType nonsense CYBBbase_D0025:g.19916_19917delAG protEffect S235X239 CYBBbase_D0025:g.19916_19917delAG mutType frameshift CYBBbase_D0025:g.19920_19921insTT protEffect L236X242 CYBBbase_D0025:g.19920_19921insTT mutType frameshift CYBBbase_D0025:g.19929_19933delATAAT protEffect H239X243 CYBBbase_D0025:g.19929_19933delATAAT mutType frameshift CYBBbase_D0025:g.19943T>G protEffect C244G CYBBbase_D0025:g.19943T>G mutType missense CYBBbase_D0025:g.19943T>C protEffect C244R CYBBbase_D0025:g.19943T>C mutType missense CYBBbase_D0025:g.19944G>C protEffect C244S CYBBbase_D0025:g.19944G>C mutType missense CYBBbase_D0025:g.19944G>A protEffect C244Y CYBBbase_D0025:g.19944G>A mutType missense CYBBbase_D0025:g.19949C>T protEffect Q246X CYBBbase_D0025:g.19949C>T mutType nonsense CYBBbase_D0025:g.19955_19956insA protEffect I248X283 CYBBbase_D0025:g.19955_19956insA mutType frameshift CYBBbase_D0025:g.19955dupA protEffect I248X283 CYBBbase_D0025:g.19955dupA mutType frameshift CYBBbase_D0025:g.19965G>A protEffect W251X CYBBbase_D0025:g.19965G>A mutType nonsense CYBBbase_D0025:g.19968delG protEffect G252X254 CYBBbase_D0025:g.19968delG mutType frameshift CYBBbase_D0025:g.19973_19974insA protEffect I254X283 CYBBbase_D0025:g.19973_19974insA mutType frameshift CYBBbase_D0025:g.19984C>A protEffect C257X CYBBbase_D0025:g.19984C>A mutType nonsense CYBBbase_D0025:g.19994C>T protEffect Q261X CYBBbase_D0025:g.19994C>T mutType nonsense CYBBbase_D0025:g.19994_19995delCA protEffect Q261X282 CYBBbase_D0025:g.19994_19995delCA mutType frameshift CYBBbase_D0025:g.20001delC protEffect A263X268 CYBBbase_D0025:g.20001delC mutType frameshift CYBBbase_D0025:g.20010delC protEffect P266X268 CYBBbase_D0025:g.20010delC mutType frameshift CYBBbase_D0025:g.22200G>A protEffect W272X CYBBbase_D0025:g.22200G>A mutType nonsense CYBBbase_D0025:g.22199G>A protEffect W272X CYBBbase_D0025:g.22199G>A mutType nonsense CYBBbase_D0025:g.22228_22258del protEffect 282_292delins21 CYBBbase_D0025:g.22228_22258del mutType frameshift CYBBbase_D0025:g.22251G>A protEffect W289X CYBBbase_D0025:g.22251G>A mutType nonsense CYBBbase_D0025:g.22252C>T protEffect R290X CYBBbase_D0025:g.22252C>T mutType nonsense CYBBbase_D0025:g.22254_22262delATCTCAACA protEffect 290_293delinsR CYBBbase_D0025:g.22254_22262delATCTCAACA mutType inframe CYBBbase_D0025:g.22281G>T protEffect K299N CYBBbase_D0025:g.22281G>T mutType missense CYBBbase_D0025:g.24823C>A protEffect H303N CYBBbase_D0025:g.24823C>A mutType missense CYBBbase_D0025:g.24827C>G protEffect P304R CYBBbase_D0025:g.24827C>G mutType missense CYBBbase_D0025:g.24831delC protEffect F305X312 CYBBbase_D0025:g.24831delC mutType frameshift CYBBbase_D0025:g.24832A>T protEffect K306X CYBBbase_D0025:g.24832A>T mutType nonsense CYBBbase_D0025:g.24835A>C protEffect T307P CYBBbase_D0025:g.24835A>C mutType missense CYBBbase_D0025:g.24835delA protEffect T307X312 CYBBbase_D0025:g.24835delA mutType frameshift CYBBbase_D0025:g.24841G>A protEffect E309K CYBBbase_D0025:g.24841G>A mutType missense CYBBbase_D0025:g.24851T>G protEffect M312R CYBBbase_D0025:g.24851T>G mutType missense CYBBbase_D0025:g.24859_24861delAAG protEffect K315del CYBBbase_D0025:g.24859_24861delAAG mutType inframe CYBBbase_D0025:g.24864delG protEffect G316X342 CYBBbase_D0025:g.24864delG mutType frameshift CYBBbase_D0025:g.24874G>T protEffect E320X CYBBbase_D0025:g.24874G>T mutType nonsense CYBBbase_D0025:g.24876delA protEffect E320X342 CYBBbase_D0025:g.24876delA mutType frameshift CYBBbase_D0025:g.24881G>A protEffect G322E CYBBbase_D0025:g.24881G>A mutType missense CYBBbase_D0025:g.24881delG protEffect 322_322delins21 CYBBbase_D0025:g.24881delG mutType frameshift CYBBbase_D0025:g.24883C>T protEffect Q323X CYBBbase_D0025:g.24883C>T mutType nonsense CYBBbase_D0025:g.24889A>T protEffect I325F CYBBbase_D0025:g.24889A>T mutType missense CYBBbase_D0025:g.24895delG protEffect V327X342 CYBBbase_D0025:g.24895delG mutType frameshift CYBBbase_D0025:g.24909delG protEffect K331X342 CYBBbase_D0025:g.24909delG mutType frameshift CYBBbase_D0025:g.24913T>C protEffect S333P CYBBbase_D0025:g.24913T>C mutType missense CYBBbase_D0025:g.24922G>T protEffect E336X CYBBbase_D0025:g.24922G>T mutType nonsense CYBBbase_D0025:g.24926G>A protEffect W337X CYBBbase_D0025:g.24926G>A mutType nonsense CYBBbase_CYBB_DNA:g.24926G>A protEffect W337X CYBBbase_CYBB_DNA:g.24926G>A mutType nonsense CYBBbase_D0025:g.24928C>A protEffect H338N CYBBbase_D0025:g.24928C>A mutType missense CYBBbase_D0025:g.24928C>T protEffect H338Y CYBBbase_D0025:g.24928C>T mutType missense CYBBbase_D0025:g.24932C>A protEffect P339H CYBBbase_D0025:g.24932C>A mutType missense CYBBbase_D0025:g.24932delC protEffect P339X342 CYBBbase_D0025:g.24932delC mutType frameshift CYBBbase_D0025:g.24932_24933insC protEffect P339X347 CYBBbase_D0025:g.24932_24933insC mutType frameshift CYBBbase_D0025:g.24938C>T protEffect T341I CYBBbase_D0025:g.24938C>T mutType missense CYBBbase_D0025:g.24938C>A protEffect T341K CYBBbase_D0025:g.24938C>A mutType missense CYBBbase_D0025:g.24941T>A protEffect L342Q CYBBbase_D0025:g.24941T>A mutType missense CYBBbase_D0025:g.24943A>C protEffect T343P CYBBbase_D0025:g.24943A>C mutType missense CYBBbase_D0025:g.24947C>T protEffect S344F CYBBbase_D0025:g.24947C>T mutType missense CYBBbase_D0025:g.24948delC protEffect S344X385 CYBBbase_D0025:g.24948delC mutType frameshift CYBBbase_D0025:g.24954delT protEffect P346X385 CYBBbase_D0025:g.24954delT mutType frameshift CYBBbase_D0025:g.24977A>G protEffect H354R CYBBbase_D0025:g.24977A>G mutType missense CYBBbase_D0025:g.24978_24987del protEffect H354X382 CYBBbase_D0025:g.24978_24987del mutType frameshift CYBBbase_D0025:g.24983G>C protEffect R356P CYBBbase_D0025:g.24983G>C mutType missense CYBBbase_D0025:g.24991G>A protEffect G359R CYBBbase_D0025:g.24991G>A mutType missense CYBBbase_D0025:g.24992G>T protEffect G359V CYBBbase_D0025:g.24992G>T mutType missense CYBBbase_D0025:g.24999G>A protEffect W361X CYBBbase_D0025:g.24999G>A mutType nonsense CYBBbase_D0025:g.25010T>C protEffect L365P CYBBbase_D0025:g.25010T>C mutType missense CYBBbase_D0025:g.25021T>C protEffect C369R CYBBbase_D0025:g.25021T>C mutType missense CYBBbase_D0025:g.25045C>T protEffect Q377X CYBBbase_D0025:g.25045C>T mutType nonsense CYBBbase_D0025:g.25055G>A protEffect W380X CYBBbase_D0025:g.25055G>A mutType nonsense CYBBbase_D0025:g.25063_25066delCCTA protEffect P383X384 CYBBbase_D0025:g.25063_25066delCCTA mutType frameshift CYBBbase_D0025:g.25957G>C protEffect G389A CYBBbase_D0025:g.25957G>C mutType missense CYBBbase_D0025:g.25956G>A protEffect G389R CYBBbase_D0025:g.25956G>A mutType missense CYBBbase_D0025:g.25960C>T protEffect P390L CYBBbase_D0025:g.25960C>T mutType missense CYBBbase_D0025:g.25981_25982delAT protEffect D397X401 CYBBbase_D0025:g.25981_25982delAT mutType frameshift CYBBbase_D0025:g.26005T>G protEffect M405R CYBBbase_D0025:g.26005T>G mutType missense CYBBbase_D0025:g.26014G>A protEffect G408E CYBBbase_D0025:g.26014G>A mutType missense CYBBbase_D0025:g.26013G>A protEffect G408R CYBBbase_D0025:g.26013G>A mutType missense CYBBbase_D0025:g.26028_26029insG protEffect V413X430 CYBBbase_D0025:g.26028_26029insG mutType frameshift CYBBbase_D0025:g.26035C>A protEffect P415H CYBBbase_D0025:g.26035C>A mutType missense CYBBbase_D0025:g.26035C>T protEffect P415L CYBBbase_D0025:g.26035C>T mutType missense CYBBbase_D0025:g.26035C>G protEffect P415R CYBBbase_D0025:g.26035C>G mutType missense CYBBbase_D0025:g.26046dupA protEffect I419X430 CYBBbase_D0025:g.26046dupA mutType frameshift CYBBbase_D0025:g.26050T>C protEffect L420P CYBBbase_D0025:g.26050T>C mutType missense CYBBbase_D0025:g.26055T>C protEffect S422P CYBBbase_D0025:g.26055T>C mutType missense CYBBbase_D0025:g.26063delG protEffect 424_424delins11 CYBBbase_D0025:g.26063delG mutType frameshift CYBBbase_D0025:g.26066C>G protEffect Y425X CYBBbase_D0025:g.26066C>G mutType nonsense CYBBbase_D0025:g.26075C>A protEffect C428X CYBBbase_D0025:g.26075C>A mutType nonsense CYBBbase_D0025:g.26100A>T protEffect K437X CYBBbase_D0025:g.26100A>T mutType nonsense CYBBbase_D0025:g.26104delA protEffect K438X501 CYBBbase_D0025:g.26104delA mutType frameshift CYBBbase_D0025:g.27324delA protEffect I439X501 CYBBbase_D0025:g.27324delA mutType frameshift CYBBbase_D0025:g.27329C>A protEffect Y440X CYBBbase_D0025:g.27329C>A mutType nonsense CYBBbase_D0025:g.27335C>G protEffect Y442X CYBBbase_D0025:g.27335C>G mutType nonsense CYBBbase_D0025:g.27338G>A protEffect W443X CYBBbase_D0025:g.27338G>A mutType nonsense CYBBbase_D0025:g.27342T>C protEffect C445R CYBBbase_D0025:g.27342T>C mutType missense CYBBbase_D0025:g.27344C>A protEffect C445X CYBBbase_D0025:g.27344C>A mutType nonsense CYBBbase_D0025:g.27357_27361delGCCTT protEffect 450_451delinsX CYBBbase_D0025:g.27357_27361delGCCTT mutType frameshift CYBBbase_D0025:g.27359delC protEffect A450X501 CYBBbase_D0025:g.27359delC mutType frameshift CYBBbase_D0025:g.27363G>T protEffect E452X CYBBbase_D0025:g.27363G>T mutType nonsense CYBBbase_D0025:g.27366T>C protEffect W453R CYBBbase_D0025:g.27366T>C mutType missense CYBBbase_D0025:g.27367G>A protEffect W453X CYBBbase_D0025:g.27367G>A mutType nonsense CYBBbase_D0025:g.27368G>A protEffect W453X CYBBbase_D0025:g.27368G>A mutType nonsense CYBBbase_D0025:g.27393G>T protEffect E462X CYBBbase_D0025:g.27393G>T mutType nonsense CYBBbase_D0025:g.27405C>T protEffect Q466X CYBBbase_D0025:g.27405C>T mutType nonsense CYBBbase_D0025:g.27424delG protEffect G472X501 CYBBbase_D0025:g.27424delG mutType frameshift CYBBbase_D0025:g.27437C>A protEffect Y476X CYBBbase_D0025:g.27437C>A mutType nonsense CYBBbase_D0025:g.27458G>A protEffect W483X CYBBbase_D0025:g.27458G>A mutType nonsense CYBBbase_D0025:g.27456_27468del protEffect W483X497 CYBBbase_D0025:g.27456_27468del mutType frameshift CYBBbase_D0025:g.27464delG protEffect E485X501 CYBBbase_D0025:g.27464delG mutType frameshift CYBBbase_D0025:g.27464_27465insT protEffect 486_486delins11 CYBBbase_D0025:g.27464_27465insT mutType frameshift CYBBbase_D0025:g.30506delC protEffect A488X501 CYBBbase_D0025:g.30506delC mutType frameshift CYBBbase_D0025:g.30539delA protEffect K499X501 CYBBbase_D0025:g.30539delA mutType frameshift CYBBbase_D0025:g.30541A>G protEffect D500G CYBBbase_D0025:g.30541A>G mutType missense CYBBbase_D0025:g.30540G>A protEffect D500N CYBBbase_D0025:g.30540G>A mutType missense CYBBbase_D0025:g.30540G>T protEffect D500Y CYBBbase_D0025:g.30540G>T mutType missense CYBBbase_D0025:g.30556T>C protEffect L505P CYBBbase_D0025:g.30556T>C mutType missense CYBBbase_D0025:g.30556T>G protEffect L505R CYBBbase_D0025:g.30556T>G mutType missense CYBBbase_D0025:g.30561C>T protEffect Q507X CYBBbase_D0025:g.30561C>T mutType nonsense CYBBbase_D0025:g.30564_30565delAA protEffect K508X517 CYBBbase_D0025:g.30564_30565delAA mutType frameshift CYBBbase_D0025:g.30565delA protEffect K508X532 CYBBbase_D0025:g.30565delA mutType frameshift CYBBbase_D0025:g.30570_30571delTT protEffect L510X517 CYBBbase_D0025:g.30570_30571delTT mutType frameshift CYBBbase_D0025:g.30574_30580delinsTTCA protEffect 511_513delinsFQ CYBBbase_D0025:g.30574_30580delinsTTCA mutType inframe CYBBbase_D0025:g.30590G>T protEffect W516C CYBBbase_D0025:g.30590G>T mutType missense CYBBbase_D0025:g.30588T>C protEffect W516R CYBBbase_D0025:g.30588T>C mutType missense CYBBbase_D0025:g.30590G>A protEffect W516X CYBBbase_D0025:g.30590G>A mutType nonsense VAR_025286 commonName VAR_025286 CYBBbase_D0025:g.30589G>A protEffect W516X CYBBbase_D0025:g.30589G>A mutType nonsense CYBBbase_D0025:g.30597G>T protEffect E519X CYBBbase_D0025:g.30597G>T mutType nonsense CYBBbase_D0025:g.30603A>T protEffect K521X CYBBbase_D0025:g.30603A>T mutType nonsense CYBBbase_D0025:g.30607delC protEffect 522_522delins11 CYBBbase_D0025:g.30607delC mutType frameshift CYBBbase_D0025:g.30620delA protEffect Q526X532 CYBBbase_D0025:g.30620delA mutType frameshift CYBBbase_D0025:g.31742T>A protEffect V534D CYBBbase_D0025:g.31742T>A mutType missense CYBBbase_D0025:g.31741_31755del protEffect V534_G538del CYBBbase_D0025:g.31741_31755del mutType inframe CYBBbase_D0025:g.31748_31749insT protEffect L536X540 CYBBbase_D0025:g.31748_31749insT mutType frameshift CYBBbase_D0025:g.31750T>C protEffect C537R CYBBbase_D0025:g.31750T>C mutType missense CYBBbase_D0025:g.31759delG protEffect E540X546 CYBBbase_D0025:g.31759delG mutType frameshift CYBBbase_D0025:g.31766T>C protEffect L542S CYBBbase_D0025:g.31766T>C mutType missense CYBBbase_D0025:g.31766_31767insCCTT protEffect L542X545 CYBBbase_D0025:g.31766_31767insCCTT mutType frameshift CYBBbase_D0025:g.31778T>C protEffect L546P CYBBbase_D0025:g.31778T>C mutType missense CYBBbase_D0025:g.31786C>T protEffect Q549X CYBBbase_D0025:g.31786C>T mutType nonsense CYBBbase_D0025:g.31803_31804insT protEffect E555X CYBBbase_D0025:g.31803_31804insT mutType frameshift CYBBbase_D0025:g.31803dupT protEffect E555X CYBBbase_D0025:g.31803dupT mutType nonsense CYBBbase_D0025:g.31820delG protEffect G560X576 CYBBbase_D0025:g.31820delG mutType frameshift CYBBbase_D0025:g.31823_31853del protEffect V561X566 CYBBbase_D0025:g.31823_31853del mutType frameshift CYBBbase_D0025:g.31843G>A protEffect E568K CYBBbase_D0025:g.31843G>A mutType missense CYBBbase_D0025:g.946A>C mutType upstream CYBBbase_D0025:g.948T>C mutType upstream CYBBbase_D0025:g.950C>T mutType upstream CYBBbase_D0025:g.951C>T mutType upstream CYBBbase_D0025:g.18731A>G protEffect E225X226 CYBBbase_D0025:g.18731A>G mutType cryptic CYBBbase_D0025:g.30627_30637del protEffect 524_529delins11 CYBBbase_D0025:g.30627_30637del mutType deletion DCLRE1Cbase_D0026:g.49482C>T protEffect R74X DCLRE1Cbase_D0026:g.49482C>T mutType nonsense DCLRE1Cbase_D0026:g.66577G>A protEffect A254_E317del DCLRE1Cbase_D0026:g.66577G>A mutType deletion DCLRE1Cbase_D0026:g.67750G>C protEffect R299X304 DCLRE1Cbase_D0026:g.67750G>C mutType frameshift DCLRE1Cbase_D0026:g.58045G>T protEffect G111V DCLRE1Cbase_D0026:g.58045G>T mutType missense DCLRE1Cbase_D0026:g.59069G>A protEffect G128E DCLRE1Cbase_D0026:g.59069G>A mutType missense DCLRE1Cbase_D0026:g.61738delG protEffect K253X277 DCLRE1Cbase_D0026:g.61738delG mutType frameshift DCLRE1Cbase_D0026:g.85395_85411del protEffect R423X440 DCLRE1Cbase_D0026:g.85395_85411del mutType frameshift DCLRE1Cbase_D0026:g.85451_85457delTTGTAGA protEffect F442X454 DCLRE1Cbase_D0026:g.85451_85457delTTGTAGA mutType frameshift DCLRE1Cbase_D0026:g.58055G>T protEffect K96X102 DCLRE1Cbase_D0026:g.58055G>T mutType deletion DKC1base_D0028:g.3715T>C protEffect I38T DKC1base_D0028:g.3715T>C mutType missense DKC1base_D0028:g.3748C>T protEffect T49M DKC1base_D0028:g.3748C>T mutType missense DKC1base_D0028:g.4556A>G protEffect S121G DKC1base_D0028:g.4556A>G mutType missense DKC1base_D0028:g.11395C>T protEffect A353V DKC1base_D0028:g.11395C>T mutType missense DNMT3Bbase_D0096:g.40317C>T protEffect Q30X DNMT3Bbase_D0096:g.40317C>T mutType nonsense DNMT3Bbase_D0096:g.67766G>A protEffect R840Q DNMT3Bbase_D0096:g.67766G>A mutType missense DNMT3Bbase_D0096:g.67577G>A mutType deletion DNMT3Bbase_D0096:g.41276C>T protEffect V699G DNMT3Bbase_D0096:g.41276C>T mutType missense DNMT3Bbase_D0096:g.61283T>G mutType missense DNMT3Bbase_D0096:g.47313C>T protEffect Q204X DNMT3Bbase_D0096:g.47313C>T mutType nonsense DNMT3Bbase_D0096:g.60116T>C protEffect V606A DNMT3Bbase_D0096:g.60116T>C mutType missense DNMT3Bbase_D0096:g.48913T>C protEffect S270P DNMT3Bbase_D0096:g.48913T>C mutType missense DNMT3Bbase_D0096:g.60106G>A protEffect A603T DNMT3Bbase_D0096:g.60106G>A mutType missense DNMT3Bbase_D0096:g.67657G>A mutType insertion DNMT3Bbase_D0096:g.62322T>G protEffect V726G DNMT3Bbase_D0096:g.62322T>G mutType missense DNMT3Bbase_D0096:g.65308G>C protEffect A766P DNMT3Bbase_D0096:g.65308G>C mutType missense DNMT3Bbase_D0096:g.67688A>G protEffect H814R DNMT3Bbase_D0096:g.67688A>G mutType missense DNMT3Bbase_D0096:g.67699G>A protEffect V818M DNMT3Bbase_D0096:g.67699G>A mutType missense DNMT3Bbase_D0096:g.67697A>G protEffect D817G DNMT3Bbase_D0096:g.67697A>G mutType missense ELA2base_D0029:g.1287A>G protEffect M1V ELA2base_D0029:g.1287A>G mutType missense ELA2base_D0029:g.1843C>T protEffect P42L ELA2base_D0029:g.1843C>T mutType missense ELA2base_D0029:g.1847C>A protEffect F43L ELA2base_D0029:g.1847C>A mutType missense ELA2base_D0029:g.1855C>T protEffect S46F ELA2base_D0029:g.1855C>T mutType missense ELA2base_D0029:g.1858T>C protEffect L47P ELA2base_D0029:g.1858T>C mutType missense ELA2base_D0029:g.1876A>T protEffect H53L ELA2base_D0029:g.1876A>T mutType missense ELA2base_D0029:g.1882G>A protEffect C55Y ELA2base_D0029:g.1882G>A mutType missense ELA2base_D0029:g.1887G>A protEffect A57T ELA2base_D0029:g.1887G>A mutType missense ELA2base_D0029:g.1897T>C protEffect I60T ELA2base_D0029:g.1897T>C mutType missense ELA2base_D0029:g.1900C>T protEffect A61V ELA2base_D0029:g.1900C>T mutType missense ELA2base_D0029:g.1929T>C protEffect C71R ELA2base_D0029:g.1929T>C mutType missense ELA2base_D0029:g.1929T>A protEffect C71S ELA2base_D0029:g.1929T>A mutType missense ELA2base_D0029:g.2190G>C protEffect R81P ELA2base_D0029:g.2190G>C mutType missense ELA2base_D0029:g.2192G>A protEffect V82M ELA2base_D0029:g.2192G>A mutType missense ELA2base_D0029:g.2199T>C protEffect L84P ELA2base_D0029:g.2199T>C mutType missense ELA2base_D0029:g.2202G>A protEffect G85E ELA2base_D0029:g.2202G>A mutType missense ELA2base_D0029:g.2249G>A protEffect V101M ELA2base_D0029:g.2249G>A mutType missense ELA2base_D0029:g.2310T>C protEffect L121P ELA2base_D0029:g.2310T>C mutType missense ELA2base_D0029:g.4495C>T protEffect S126L ELA2base_D0029:g.4495C>T mutType missense ELA2base_D0029:g.4497G>C protEffect A127P ELA2base_D0029:g.4497G>C mutType missense ELA2base_D0029:g.4534C>T protEffect P139L ELA2base_D0029:g.4534C>T mutType missense ELA2base_D0029:g.4569T>A protEffect C151S ELA2base_D0029:g.4569T>A mutType missense ELA2base_D0029:g.4570G>A protEffect C151Y ELA2base_D0029:g.4570G>A mutType missense ELA2base_D0029:g.4573T>C protEffect L152P ELA2base_D0029:g.4573T>C mutType missense ELA2base_D0029:g.4638_4661del protEffect V174_C181del ELA2base_D0029:g.4638_4661del mutType inframe ELA2base_D0029:g.4898C>G protEffect P205R ELA2base_D0029:g.4898C>G mutType missense ELA2base_D0029:g.4902G>T protEffect L206F ELA2base_D0029:g.4902G>T mutType missense ELA2base_D0029:g.4913G>T protEffect G210V ELA2base_D0029:g.4913G>T mutType missense ELA2base_D0029:g.4924G>A protEffect G214R ELA2base_D0029:g.4924G>A mutType missense ELA2base_D0029:g.4939G>A protEffect V219I ELA2base_D0029:g.4939G>A mutType missense ELA2base_D0029:g.4943G>A protEffect R220Q ELA2base_D0029:g.4943G>A mutType missense ELA2base_D0029:g.4945G>T protEffect G221X ELA2base_D0029:g.4945G>T mutType nonsense ELA2base_D0029:g.4953C>A protEffect C223X ELA2base_D0029:g.4953C>A mutType nonsense ELA2base_D0029:g.4958C>A protEffect S225X ELA2base_D0029:g.4958C>A mutType nonsense ELA2base_D0029:g.4968C>A protEffect Y228X ELA2base_D0029:g.4968C>A mutType nonsense ELA2base_D0029:g.4972delG protEffect D230X239 ELA2base_D0029:g.4972delG mutType frameshift ELA2base_D0029:g.4981G>C protEffect A233P ELA2base_D0029:g.4981G>C mutType missense ELA2base_D0029:g.5054C>T protEffect P257L ELA2base_D0029:g.5054C>T mutType missense ELA2base_D0029:g.5069C>T protEffect P262L ELA2base_D0029:g.5069C>T mutType missense ELA2base_D0029:g.1246C>A mutType upstream ELA2base_D0029:g.1063C>A mutType upstream ELA2base_D0029:g.4477C>A protEffect 122_123insPQ ELA2base_D0029:g.4477C>A mutType inframe ELA2base_D0029:g.4716G>A protEffect V190_F199del ELA2base_D0029:g.4716G>A mutType inframe ELA2base_D0029:g.4718A>T protEffect V190_F199del ELA2base_D0029:g.4718A>T mutType inframe ELA2base_D0029:g.4720G>A protEffect V190_F199del ELA2base_D0029:g.4720G>A mutType inframe ELA2base_D0029:g.4676C>A protEffect V190_F199del ELA2base_D0029:g.4676C>A mutType inframe FASLGbase_D0090:g.83392_83475del protEffect M158_E185del FASLGbase_D0090:g.83392_83475del mutType inframe FASLGbase_D0090:g.83660C>A protEffect A247E FASLGbase_D0090:g.83660C>A mutType missense FCGR1Abase_D0032:g.2493C>T protEffect R92X FCGR1Abase_D0032:g.2493C>T mutType nonsense FCGR3Abase_D0033:g.2217T>A protEffect L66H FCGR3Abase_D0033:g.2217T>A mutType missense FOXN1base_D0034:g.56561C>T protEffect R255X FOXN1base_D0034:g.56561C>T mutType nonsense FOXP3base_D0035:g.75629delT protEffect L76X128 FOXP3base_D0035:g.75629delT mutType frameshift FOXP3base_D0035:g.77880_77882delAAG protEffect K250del FOXP3base_D0035:g.77880_77882delAAG mutType inframe FOXP3base_D0035:g.80247G>A protEffect R347H FOXP3base_D0035:g.80247G>A mutType missense FOXP3base_D0035:g.81654A>G protEffect I363V FOXP3base_D0035:g.81654A>G mutType missense FOXP3base_D0035:g.81897G>A protEffect A384T FOXP3base_D0035:g.81897G>A mutType missense FOXP3base_D0035:g.81936C>T protEffect R397W FOXP3base_D0035:g.81936C>T mutType missense FOXP3base_D0035:g.82040_82041delCT protEffect P431X457 FOXP3base_D0035:g.82040_82041delCT mutType frameshift GFI1base_D0037:g.11730A>G protEffect N382S GFI1base_D0037:g.11730A>G mutType missense GFI1base_D0037:g.11793A>G protEffect K403R GFI1base_D0037:g.11793A>G mutType missense HAX1base_D0121:g.1902_1903insA protEffect W44X HAX1base_D0121:g.1902_1903insA mutType nonsense HAX1base_D0121:g.2028C>T protEffect R86X HAX1base_D0121:g.2028C>T mutType nonsense HAX1base_D0121:g.3655C>T protEffect Q190X HAX1base_D0121:g.3655C>T mutType nonsense ICOSbase_D0039:g.171583_173397del protEffect G20X29 ICOSbase_D0039:g.171583_173397del mutType deletion IFNGR1base_D0041:g.32897delC protEffect P8X14 IFNGR1base_D0041:g.32897delC mutType frameshift IFNGR1base_D0041:g.45144dupT protEffect T36X38 IFNGR1base_D0041:g.45144dupT mutType frameshift IFNGR1base_D0041:g.45145_45146insT protEffect T36X38 IFNGR1base_D0041:g.45145_45146insT mutType frameshift IFNGR1base_D0041:g.45236A>G protEffect Y66C IFNGR1base_D0041:g.45236A>G mutType missense IFNGR1base_D0041:g.45207delC protEffect V56X61 IFNGR1base_D0041:g.45207delC mutType frameshift IFNGR1base_D0041:g.45947G>A protEffect C85Y IFNGR1base_D0041:g.45947G>A mutType missense IFNGR1base_D0041:g.47847delT protEffect Y175X176 IFNGR1base_D0041:g.47847delT mutType frameshift IFNGR1base_D0041:g.45146_45147dupTTAC protEffect T36X39 IFNGR1base_D0041:g.45146_45147dupTTAC mutType frameshift IFNGR1base_D0041:g.45240G>T protEffect V29X104 IFNGR1base_D0041:g.45240G>T mutType frameshift IFNGR1base_D0041:g.45170delC protEffect P44X61 IFNGR1base_D0041:g.45170delC mutType frameshift IFNGR1base_D0041:g.45221T>A protEffect V61E IFNGR1base_D0041:g.45221T>A mutType missense IFNGR1base_D0041:g.48623_48625delAAG protEffect 218_219delinsG IFNGR1base_D0041:g.48623_48625delAAG mutType inframe IFNGR1base_D0041:g.45227T>G protEffect V63G IFNGR1base_D0041:g.45227T>G mutType missense IFNGR1base_D0041:g.45923G>A protEffect C77Y IFNGR1base_D0041:g.45923G>A mutType missense VAR_002322 commonName VAR_002322 IFNGR1base_D0041:g.45953T>C protEffect I87T IFNGR1base_D0041:g.45953T>C mutType missense IFNGR1base_D0041:g.45988_45999del protEffect W99_V102del IFNGR1base_D0041:g.45988_45999del mutType inframe IFNGR1base_D0041:g.46040C>A protEffect S116X IFNGR1base_D0041:g.46040C>A mutType nonsense IFNGR1base_D0041:g.46067G>T protEffect G67X73 IFNGR1base_D0041:g.46067G>T mutType frameshift IFNGR1base_D0041:g.48531_48534delACTC protEffect I187X201 IFNGR1base_D0041:g.48531_48534delACTC mutType frameshift IFNGR1base_D0041:g.51234_51237delTCTA protEffect F258X275 IFNGR1base_D0041:g.51234_51237delTCTA mutType frameshift IFNGR1base_D0041:g.51271_51274delAAGA protEffect K271X275 IFNGR1base_D0041:g.51271_51274delAAGA mutType frameshift IFNGR1base_D0041:g.51278_51281delTTAA protEffect I273X275 IFNGR1base_D0041:g.51278_51281delTTAA mutType frameshift IFNGR1base_D0041:g.51278delT protEffect I273X276 IFNGR1base_D0041:g.51278delT mutType frameshift IFNGR1base_D0041:g.51277dupA protEffect I273X274 IFNGR1base_D0041:g.51277dupA mutType frameshift IFNGR1base_D0041:g.51292G>T protEffect E278X IFNGR1base_D0041:g.51292G>T mutType nonsense IFNGR1base_D0041:g.45892A>G protEffect 67_101delinsG IFNGR1base_D0041:g.45892A>G mutType inframe IFNGR2base_D0042:g.19657_19658delAG protEffect E93X94 IFNGR2base_D0042:g.19657_19658delAG mutType frameshift IFNGR2base_D0042:g.19719C>T protEffect R114C IFNGR2base_D0042:g.19719C>T mutType missense IFNGR2base_D0042:g.25080C>A protEffect T168N IFNGR2base_D0042:g.25080C>A mutType missense IFNGR2base_D0042:g.30384_30410del protEffect 221_230delinsS IFNGR2base_D0042:g.30384_30410del mutType inframe IFNGR2base_D0042:g.30889delG protEffect G264X271 IFNGR2base_D0042:g.30889delG mutType frameshift IGHG2base_D0043:g.1795dupG protEffect G416X417 IGHG2base_D0043:g.1795dupG mutType frameshift IGHG2base_D0043:g.513A>G protEffect V185X217 IGHG2base_D0043:g.513A>G mutType frameshift IGHMbase_X57331.1:g.1255G>A protEffect W412X IGHMbase_X57331.1:g.1255G>A mutType nonsense IGHMbase_X57331.1:g.738_739delAA protEffect K322X405 IGHMbase_X57331.1:g.738_739delAA mutType frameshift IGHMbase_X57331.1:g.1893T>G protEffect C566G IGHMbase_X57331.1:g.1893T>G mutType missense IGHMbase_X57331.1:g.1956G>A protEffect E587K IGHMbase_X57331.1:g.1956G>A mutType missense IGLL1base_D0045:g.258C>T protEffect Q22X IGLL1base_D0045:g.258C>T mutType nonsense IGLL1base_D0045:g.6904C>T protEffect P142L IGLL1base_D0045:g.6904C>T mutType missense IKBKGbase_D0046:g.9842_9843insC protEffect M38X49 IKBKGbase_D0046:g.9842_9843insC mutType frameshift IKBKGbase_D0046:g.13951T>C protEffect L80P IKBKGbase_D0046:g.13951T>C mutType missense IKBKGbase_D0046:g.16325T>G protEffect L153R IKBKGbase_D0046:g.16325T>G mutType missense IKBKGbase_D0046:g.16384C>G protEffect R173G IKBKGbase_D0046:g.16384C>G mutType missense IKBKGbase_D0046:g.18148G>C protEffect R175P IKBKGbase_D0046:g.18148G>C mutType missense IKBKGbase_D0046:g.19432T>C protEffect L227P IKBKGbase_D0046:g.19432T>C mutType missense IKBKGbase_D0046:g.20567_20568insA protEffect Q265X283 IKBKGbase_D0046:g.20567_20568insA mutType frameshift IKBKGbase_D0046:g.20586_20603del protEffect E271_A276del IKBKGbase_D0046:g.20586_20603del mutType inframe IKBKGbase_D0046:g.20638C>G protEffect A288G IKBKGbase_D0046:g.20638C>G mutType missense IKBKGbase_D0046:g.21326A>C protEffect E315A IKBKGbase_D0046:g.21326A>C mutType missense IKBKGbase_D0046:g.21338G>A protEffect R319Q IKBKGbase_D0046:g.21338G>A mutType missense IKBKGbase_D0046:g.22104_22105insC protEffect E390X394 IKBKGbase_D0046:g.22104_22105insC mutType frameshift IKBKGbase_D0046:g.22108G>T protEffect E391X IKBKGbase_D0046:g.22108G>T mutType nonsense IKBKGbase_D0046:g.22144C>T protEffect Q403X IKBKGbase_D0046:g.22144C>T mutType nonsense IKBKGbase_D0046:g.22154A>T protEffect D406V IKBKGbase_D0046:g.22154A>T mutType missense IKBKGbase_D0046:g.22154_22155insA protEffect D406X419 VAR_025286 disease not phenotype-associated IKBKGbase_D0046:g.22154_22155insA mutType frameshift IKBKGbase_D0046:g.22187G>T protEffect C417F IKBKGbase_D0046:g.22187G>T mutType missense IKBKGbase_D0046:g.22186T>C protEffect C417R IKBKGbase_D0046:g.22186T>C mutType missense IKBKGbase_D0046:g.22187G>A protEffect C417Y IKBKGbase_D0046:g.22187G>A mutType missense IKBKGbase_D0046:g.22196A>G protEffect X420X447 IKBKGbase_D0046:g.22196A>G mutType terminator IKBKGbase_D0046:g.19525G>A protEffect Q134_R256del IKBKGbase_D0046:g.19525G>A mutType inframe IKBKGbase_D0046:g.21694G>A protEffect I353X430 IKBKGbase_D0046:g.21694G>A mutType deletion IL12Bbase_D0047:g.9794_9801delTTCGCTCC protEffect H99X112 IL12Bbase_D0047:g.9794_9801delTTCGCTCC mutType frameshift IL12Bbase_D0047:g.9817dupA protEffect K107X115 IL12Bbase_D0047:g.9817dupA mutType frameshift IL12RB1base_D0048:g.4426C>T protEffect Q32X IL12RB1base_D0048:g.4426C>T mutType nonsense IL12RB1base_D0048:g.25615_25616delinsTT protEffect V541X542 IL12RB1base_D0048:g.5729T>C protEffect L77P IL12RB1base_D0048:g.5729T>C mutType missense IL12RB1base_D0048:g.10335A>C protEffect Q171P IL12RB1base_D0048:g.10335A>C mutType missense IL12RB1base_D0048:g.15762_15763delinsG protEffect A336X345 IL12RB1base_D0048:g.15762_15763delinsG mutType frameshift IL12RB1base_D0048:g.10341G>C protEffect R173P IL12RB1base_D0048:g.10341G>C mutType missense IL12RB1base_D0048:g.12031T>C protEffect C198R IL12RB1base_D0048:g.12031T>C mutType missense IL12RB1base_D0048:g.12071G>C protEffect R211P IL12RB1base_D0048:g.12071G>C mutType missense IL12RB1base_D0048:g.12076C>T protEffect R213W IL12RB1base_D0048:g.12076C>T mutType missense IL12RB1base_D0048:g.15668A>T protEffect K305X IL12RB1base_D0048:g.15668A>T mutType nonsense IL12RB1base_D0048:g.15717C>A protEffect S321X IL12RB1base_D0048:g.15717C>A mutType nonsense IL12RB1base_D0048:g.18253A>G protEffect Y367C IL12RB1base_D0048:g.18253A>G mutType missense IL12RB1base_D0048:g.18279C>T protEffect Q376X IL12RB1base_D0048:g.18279C>T mutType nonsense IL12RB1base_D0048:g.26724_26725dupCA protEffect P584X620 IL12RB1base_D0048:g.26724_26725dupCA mutType frameshift IL12RB1base_D0048:g.11559A>G protEffect G184X192 IL12RB1base_D0048:g.11559A>G mutType deletion IL12RB1base_D0048:g.11568_11574delinsAGATATCA protEffect 137_194delinsE IL12RB1base_D0048:g.11568_11574delinsAGATATCA mutType inframe IL12RB1base_D0048:g.10290_10306del protEffect V137X144 IL12RB1base_D0048:g.10290_10306del mutType deletion IL12RB1base_D0048:g.14372G>C protEffect E234X266 IL12RB1base_D0048:g.14372G>C mutType frameshift IL12RB1base_D0048:g.14372G>A protEffect E234X266 IL12RB1base_D0048:g.14372G>A mutType deletion IL12RB1base_D0048:g.12502_24667del protEffect 234_540delinsE IL12RB1base_D0048:g.12502_24667del mutType inframe IL2RAbase_D0049:g.37297_37300delGCAG protEffect A21X46 IL2RAbase_D0049:g.37297_37300delGCAG mutType frameshift IL2RAbase_D0049:g.39016C>T protEffect Q101X IL2RAbase_D0049:g.39016C>T mutType nonsense IL2RAbase_D0049:g.43863dupA protEffect E231X269 IL2RAbase_D0049:g.43863dupA mutType frameshift IL7Rbase_D0050:g.11505T>A protEffect T125T IL7Rbase_D0050:g.11505T>A mutType missense IL7Rbase_D0050:g.15116C>T protEffect P132S IL7Rbase_D0050:g.15116C>T mutType missense IL7Rbase_D0050:g.17604C>T protEffect R206X IL7Rbase_D0050:g.17604C>T mutType nonsense IL7Rbase_D0050:g.17639G>A protEffect W217X IL7Rbase_D0050:g.17639G>A mutType nonsense IRAK4base_D0051:g.11171dupA protEffect P42X45 IRAK4base_D0051:g.11171dupA mutType frameshift IRAK4base_D0051:g.15882delA protEffect 175_175delins31 IRAK4base_D0051:g.15882delA mutType frameshift IRAK4base_D0051:g.15978_15979delAC protEffect N207X219 IRAK4base_D0051:g.15978_15979delAC mutType frameshift IRAK4base_D0051:g.21175C>T protEffect Q293X IRAK4base_D0051:g.21175C>T mutType nonsense IRAK4base_D0051:g.20671delT protEffect L274X287 IRAK4base_D0051:g.20671delT mutType frameshift IRAK4base_D0051:g.29351G>T protEffect E402X IRAK4base_D0051:g.29351G>T mutType nonsense ITGB2base_D0052:g.11109T>A protEffect M1K ITGB2base_D0052:g.11109T>A mutType missense ITGB2base_D0052:g.33187delT protEffect D690X714 ITGB2base_D0052:g.33187delT mutType frameshift ITGB2base_D0052:g.11525_11526delTC protEffect S22X57 ITGB2base_D0052:g.11525_11526delTC mutType frameshift ITGB2base_D0052:g.21401C>A protEffect 247_248insPSSQ ITGB2base_D0052:g.21401C>A mutType inframe ITGB2base_D0052:g.32493C>T protEffect R586W ITGB2base_D0052:g.32493C>T mutType missense ITGB2base_D0052:g.11578_11587del protEffect G40X46 ITGB2base_D0052:g.11578_11587del mutType frameshift ITGB2base_D0052:g.14846C>T protEffect Q67X ITGB2base_D0052:g.14846C>T mutType nonsense ITGB2base_D0052:g.18408G>A protEffect D128N ITGB2base_D0052:g.18408G>A mutType missense ITGB2base_D0052:g.18438T>C protEffect S138P ITGB2base_D0052:g.18438T>C mutType missense ITGB2base_D0052:g.21490G>A protEffect G273R ITGB2base_D0052:g.21490G>A mutType missense ITGB2base_D0052:g.18472T>C protEffect L149P ITGB2base_D0052:g.18472T>C mutType missense ITGB2base_D0052:g.20162G>A protEffect G169R ITGB2base_D0052:g.20162G>A mutType missense ITGB2base_D0052:g.20190C>T protEffect P178L ITGB2base_D0052:g.20190C>T mutType missense ITGB2base_D0052:g.20244A>C protEffect K196T ITGB2base_D0052:g.20244A>C mutType missense ITGB2base_D0052:g.32514C>T protEffect R593C ITGB2base_D0052:g.32514C>T mutType missense ITGB2base_D0052:g.20271_20272insA protEffect R205X264 ITGB2base_D0052:g.20271_20272insA mutType frameshift ITGB2base_D0052:g.20348G>C protEffect D231H ITGB2base_D0052:g.20348G>C mutType missense ITGB2base_D0052:g.21523G>A protEffect G284S ITGB2base_D0052:g.21523G>A mutType missense ITGB2base_D0052:g.21427T>C protEffect W252R ITGB2base_D0052:g.21427T>C mutType missense ITGB2base_D0052:g.21482C>T protEffect A270V ITGB2base_D0052:g.21482C>T mutType missense ITGB2base_D0052:g.32505T>C protEffect C590R ITGB2base_D0052:g.32505T>C mutType missense ITGB2base_D0052:g.31752delG protEffect K499X528 ITGB2base_D0052:g.31752delG mutType frameshift ITGB2base_D0052:g.26857G>C protEffect A341P ITGB2base_D0052:g.26857G>C mutType missense ITGB2base_D0052:g.31857C>A protEffect C534X ITGB2base_D0052:g.31857C>A mutType nonsense ITGB2base_D0052:g.26888A>G protEffect N351S ITGB2base_D0052:g.26888A>G mutType missense ITGB2base_D0052:g.29924_29925delGA protEffect E419X445 ITGB2base_D0052:g.29924_29925delGA mutType frameshift ITGB2base_D0052:g.33037delG protEffect G640X657 ITGB2base_D0052:g.33037delG mutType frameshift ITGB2base_D0052:g.31877_31912del protEffect 541_553delinsW ITGB2base_D0052:g.31877_31912del mutType inframe ITGB2base_D0052:g.35107G>T protEffect E734X ITGB2base_D0052:g.35107G>T mutType nonsense ITGB2base_D0052:g.20145T>G protEffect G167X214 ITGB2base_D0052:g.20145T>G mutType deletion ITGB2base_D0052:g.21571G>A protEffect D300X334 ITGB2base_D0052:g.21571G>A mutType insertion ITGB2base_D0052:g.26922G>C protEffect K332_N361del ITGB2base_D0052:g.26922G>C mutType inframe ITGB2base_D0052:g.18318_18486del protEffect 110_167delinsG ITGB2base_D0052:g.18318_18486del mutType inframe JAK3base_D0095:g.5057A>G protEffect M1V JAK3base_D0095:g.5057A>G mutType missense JAK3base_D0095:g.5164delG protEffect 36_36delins111 JAK3base_D0095:g.5164delG mutType frameshift JAK3base_D0095:g.5227_5229delTGC protEffect 57_58delinsA JAK3base_D0095:g.5227_5229delTGC mutType inframe JAK3base_D0095:g.6388C>A protEffect D169E JAK3base_D0095:g.6388C>A mutType missense JAK3base_D0095:g.5228G>C protEffect A58P JAK3base_D0095:g.5228G>C mutType missense JAK3base_D0095:g.18947delC protEffect C1024X1037 JAK3base_D0095:g.18947delC mutType frameshift JAK3base_D0095:g.5688A>G protEffect Y100C JAK3base_D0095:g.5688A>G mutType missense JAK3base_D0095:g.6333C>G protEffect P151R JAK3base_D0095:g.6333C>G mutType missense JAK3base_D0095:g.9168dupG protEffect G393X409 JAK3base_D0095:g.9168dupG mutType frameshift JAK3base_D0095:g.11536C>A protEffect C565X JAK3base_D0095:g.11536C>A mutType nonsense JAK3base_D0095:g.9889C>T protEffect R445X JAK3base_D0095:g.9889C>T mutType nonsense JAK3base_D0095:g.14828T>C protEffect C759R JAK3base_D0095:g.14828T>C mutType missense JAK3base_D0095:g.11084A>G protEffect E481G JAK3base_D0095:g.11084A>G mutType missense JAK3base_D0095:g.11084_11542del protEffect E481_S596del JAK3base_D0095:g.11084_11542del mutType inframe JAK3base_D0095:g.11210G>A protEffect W523X JAK3base_D0095:g.11210G>A mutType nonsense JAK3base_D0095:g.12303C>T protEffect R582W JAK3base_D0095:g.12303C>T mutType missense JAK3base_D0095:g.12324G>A protEffect G589S JAK3base_D0095:g.12324G>A mutType missense JAK3base_D0095:g.12326C>T protEffect V590_S596del JAK3base_D0095:g.12326C>T mutType inframe JAK3base_D0095:g.14295C>T protEffect R651W JAK3base_D0095:g.14295C>T mutType missense JAK3base_D0095:g.14503G>A protEffect E694K JAK3base_D0095:g.14503G>A mutType missense JAK3base_D0095:g.14488C>T protEffect P689S JAK3base_D0095:g.14488C>T mutType missense JAK3base_D0095:g.14543A>C protEffect D707A JAK3base_D0095:g.14543A>C mutType missense JAK3base_D0095:g.18135T>G protEffect L956R JAK3base_D0095:g.18135T>G mutType missense JAK3base_D0095:g.14587G>A protEffect V722I JAK3base_D0095:g.14587G>A mutType missense JAK3base_D0095:g.14849C>T protEffect Q766X JAK3base_D0095:g.14849C>T mutType nonsense JAK3base_D0095:g.14864C>T protEffect R771X JAK3base_D0095:g.14864C>T mutType nonsense JAK3base_D0095:g.17724T>C protEffect L910S JAK3base_D0095:g.17724T>C mutType missense JAK3base_D0095:g.18944C>A protEffect Y1023X JAK3base_D0095:g.18944C>A mutType nonsense JAK3base_D0095:g.18229C>T protEffect G987X1031 JAK3base_D0095:g.18229C>T mutType deletion JAK3base_D0095:g.11082A>G protEffect E481X517 JAK3base_D0095:g.11082A>G mutType frameshift JAK3base_D0095:g.14515G>T protEffect E698X JAK3base_D0095:g.14515G>T mutType nonsense JAK3base_D0095:g.14905T>C protEffect 734_784delins61 JAK3base_D0095:g.14905T>C mutType frameshift LIG1base_D0053:g.38293G>A protEffect E566K LIG1base_D0053:g.38293G>A mutType missense LIG1base_D0053:g.50060C>T protEffect R771W LIG1base_D0053:g.50060C>T mutType missense LIG4base_AF479264.1:g.4044C>T protEffect A3V LIG4base_AF479264.1:g.4044C>T mutType missense LIG4base_AF479264.1:g.4062C>T protEffect T9I LIG4base_AF479264.1:g.4062C>T mutType missense LIG4base_AF479264.1:g.4869G>A protEffect R278H LIG4base_AF479264.1:g.4869G>A mutType missense LIG4base_AF479264.1:g.4875A>G protEffect Q280R LIG4base_AF479264.1:g.4875A>G mutType missense LIG4base_AF479264.1:g.5307_5311delAAAGA protEffect K424X443 LIG4base_AF479264.1:g.5307_5311delAAAGA mutType frameshift LIG4base_AF479264.1:g.4881A>T protEffect H282L LIG4base_AF479264.1:g.4881A>T mutType missense LIG4base_AF479264.1:g.5333_5335delCAA protEffect Q433del LIG4base_AF479264.1:g.5333_5335delCAA mutType inframe LIG4base_AF479264.1:g.5442G>A protEffect G469E LIG4base_AF479264.1:g.5442G>A mutType missense LIG4base_AF479264.1:g.6476C>T protEffect R814X LIG4base_AF479264.1:g.6476C>T mutType nonsense LIG4base_AF479264.1:g.5774C>T protEffect R580X LIG4base_AF479264.1:g.5774C>T mutType nonsense LRRC8Abase_D0055:g.2347_12872del protEffect I720X755 LRRC8Abase_D0055:g.2347_12872del mutType insertion LYSTbase_D0020:g.37626_37627insG protEffect A40X63 LYSTbase_D0020:g.37626_37627insG mutType frameshift LYSTbase_D0020:g.37656C>T protEffect R50X LYSTbase_D0020:g.37656C>T mutType nonsense LYSTbase_D0020:g.58575delG protEffect E489X566 LYSTbase_D0020:g.58575delG mutType frameshift LYSTbase_D0020:g.58648C>T protEffect R514X LYSTbase_D0020:g.58648C>T mutType nonsense LYSTbase_D0020:g.155837delT protEffect F3298X3304 LYSTbase_D0020:g.155837delT mutType frameshift LYSTbase_D0020:g.59010_59011insA protEffect A635X638 LYSTbase_D0020:g.59010_59011insA mutType frameshift LYSTbase_D0020:g.61244delA protEffect K818X823 LYSTbase_D0020:g.61244delA mutType frameshift LYSTbase_D0020:g.61410delT protEffect F874X898 LYSTbase_D0020:g.61410delT mutType frameshift LYSTbase_D0020:g.61863_61864delAA protEffect N1025X1030 LYSTbase_D0020:g.61863_61864delAA mutType frameshift LYSTbase_D0020:g.61875C>T protEffect Q1029X LYSTbase_D0020:g.61875C>T mutType nonsense LYSTbase_D0020:g.62100C>T protEffect R1104X LYSTbase_D0020:g.62100C>T mutType nonsense LYSTbase_D0020:g.63300_63301insA protEffect H1145X1153 LYSTbase_D0020:g.63300_63301insA mutType frameshift LYSTbase_D0020:g.74359C>G protEffect S1351X LYSTbase_D0020:g.74359C>G mutType nonsense LYSTbase_D0020:g.75958delT protEffect L1425X1426 LYSTbase_D0020:g.75958delT mutType frameshift LYSTbase_D0020:g.133336G>A protEffect E2810K LYSTbase_D0020:g.133336G>A mutType missense LYSTbase_D0020:g.86908T>A protEffect Y1687X LYSTbase_D0020:g.86908T>A mutType nonsense LYSTbase_D0020:g.76045C>A protEffect A1454D LYSTbase_D0020:g.76045C>A mutType missense LYSTbase_D0020:g.79225G>A protEffect R1563H LYSTbase_D0020:g.79225G>A mutType missense LYSTbase_D0020:g.90720delA protEffect R1773X1785 LYSTbase_D0020:g.90720delA mutType frameshift LYSTbase_D0020:g.143810_143811ins10 mutType frameshift LYSTbase_D0020:g.101722T>A protEffect V1999D LYSTbase_D0020:g.101722T>A mutType missense LYSTbase_D0020:g.101804C>A protEffect Y2026X LYSTbase_D0020:g.101804C>A mutType nonsense LYSTbase_D0020:g.112279_112285delCTATTAG protEffect L2354X2369 LYSTbase_D0020:g.112279_112285delCTATTAG mutType frameshift LYSTbase_D0020:g.115849delT protEffect Y2519X2528 LYSTbase_D0020:g.115849delT mutType frameshift LYSTbase_D0020:g.134067G>A protEffect W2861X LYSTbase_D0020:g.134067G>A mutType nonsense LYSTbase_D0020:g.151177delA protEffect Y3197X3258 LYSTbase_D0020:g.151177delA mutType frameshift LYSTbase_D0020:g.170674delA protEffect K3465X3467 LYSTbase_D0020:g.170674delA mutType frameshift MAPBPIPbase_D0123:g.4581C>A mutType downstream MASP2base_D0056:g.1630A>G protEffect D120G MASP2base_D0056:g.1630A>G mutType missense MLPHbase_D0059:g.7243C>T protEffect R35W MLPHbase_D0059:g.7243C>T mutType missense MPObase_D0060:g.3520delA protEffect T109X113 MPObase_D0060:g.3520delA mutType frameshift MPObase_D0060:g.3899A>G protEffect Y173C MPObase_D0060:g.3899A>G mutType missense MPObase_D0060:g.4311T>C protEffect M251T MPObase_D0060:g.4311T>C mutType missense MPObase_D0060:g.9953_9966del protEffect P518X539 MPObase_D0060:g.9953_9966del mutType frameshift MPObase_D0060:g.10600C>T protEffect R569W MPObase_D0060:g.10600C>T mutType missense MPObase_D0060:g.5414C>T protEffect A332V MPObase_D0060:g.5414C>T mutType missense MPObase_D0060:g.10610T>G protEffect L572W MPObase_D0060:g.10610T>G mutType missense MPObase_D0060:g.5531A>G protEffect D371G MPObase_D0060:g.5531A>G mutType missense MPObase_D0060:g.9896C>T protEffect R499C MPObase_D0060:g.9896C>T mutType missense MPObase_D0060:g.9902G>A protEffect G501S MPObase_D0060:g.9902G>A mutType missense MPObase_D0060:g.12564A>C protEffect R677X750 MPObase_D0060:g.12564A>C mutType frameshift MPObase_D0060:g.11675T>C protEffect W643R MPObase_D0060:g.11675T>C mutType missense MRE11Abase_D0061:g.15119A>G protEffect N117S MRE11Abase_D0061:g.15119A>G mutType missense MRE11Abase_D0061:g.47557C>T protEffect R572X MRE11Abase_D0061:g.47557C>T mutType nonsense MRE11Abase_D0061:g.18527G>C protEffect W210C MRE11Abase_D0061:g.18527G>C mutType missense MRE11Abase_D0061:g.35379C>A protEffect T481K MRE11Abase_D0061:g.35379C>A mutType missense MRE11Abase_D0061:g.57639C>T protEffect R633X MRE11Abase_D0061:g.57639C>T mutType nonsense MYO5Abase_D0062:g.153616C>T protEffect R778X MYO5Abase_D0062:g.153616C>T mutType nonsense MYO5Abase_D0062:g.178684C>T protEffect R1246C MYO5Abase_D0062:g.178684C>T mutType missense NCF1base_D0099:g.9966delG protEffect 168_168delins31 NCF1base_D0099:g.9966delG mutType frameshift NCF1base_D0099:g.4249_4250delGT protEffect V25X51 NCF1base_D0099:g.4249_4250delGT mutType frameshift NCF1base_D0099:g.6278C>T protEffect Q91X NCF1base_D0099:g.6278C>T mutType nonsense NCF1base_D0099:g.6360T>A protEffect F118Y NCF1base_D0099:g.6360T>A mutType missense NCF1base_D0099:g.12263G>A protEffect G262S NCF1base_D0099:g.12263G>A mutType missense NCF1base_D0099:g.4299G>A protEffect R42Q NCF1base_D0099:g.4299G>A mutType missense NCF1base_D0099:g.6360_6361delinsAA protEffect F118X NCF1base_D0099:g.6360_6361delinsAA mutType nonsense NCF1base_D0099:g.6340T>A protEffect C111X NCF1base_D0099:g.6340T>A mutType nonsense NCF1base_D0099:g.10506G>A protEffect W193X NCF1base_D0099:g.10506G>A mutType nonsense NCF1base_D0099:g.5779_8636del protEffect K52X99 NCF1base_D0099:g.5779_8636del mutType deletion NCF1base_D0099:g.10610G>C protEffect 192_228delinsG NCF1base_D0099:g.10610G>C mutType inframe NCF1base_D0099:g.14972delG protEffect V271X375 NCF1base_D0099:g.14972delG mutType frameshift NCF1base_D0099:g.10038G>A protEffect G192S NCF1base_D0099:g.10038G>A mutType missense NCF1base_D0099:g.4328G>A mutType splicing NCF2base_HSNCFII01:g.989_997delAAGAAGGAC protEffect K19_D21del NCF2base_HSNCFII01:g.989_997delAAGAAGGAC mutType inframe NCF2base_HSNCFII01:g.1104_1106delAGA protEffect 57_58delinsE NCF2base_HSNCFII01:g.1104_1106delAGA mutType inframe NCF2base_HSCFII02:g.163G>A protEffect G78E NCF2base_HSCFII02:g.163G>A mutType missense NCF2base_HSNCFII03:g.175C>T protEffect R102X NCF2base_HSNCFII03:g.175C>T mutType nonsense NCF2base_HSNCFII04:g.93_94insAG protEffect K133X145 NCF2base_HSNCFII04:g.93_94insAG mutType frameshift NCF2base_HSNCFII11:g.338_342delCTAAG protEffect T390X399 NCF2base_HSNCFII11:g.338_342delCTAAG mutType frameshift NCF2base_HSNCFII11:g.479C>T protEffect R395W NCF2base_HSNCFII11:g.479C>T mutType missense NCF2base_HSNCFII03:g.238G>A mutType deletion NHEJ1base_D0113:g.13476dupT protEffect L4X47 NHEJ1base_D0113:g.13476dupT mutType frameshift NHEJ1base_D0113:g.13634C>G protEffect R57G NHEJ1base_D0113:g.13634C>G mutType missense NHEJ1base_D0113:g.14333T>C protEffect C123R NHEJ1base_D0113:g.14333T>C mutType missense NHEJ1base_D0113:g.13642delG protEffect K59X61 NHEJ1base_D0113:g.13642delG mutType frameshift NHEJ1base_D0113:g.25092C>T protEffect R178X NHEJ1base_D0113:g.25092C>T mutType nonsense NPbase_NP_DNA:g.2961C>T protEffect R24X NPbase_NP_DNA:g.2961C>T mutType nonsense NPbase_NP_DNA:g.3063C>T protEffect R58X NPbase_NP_DNA:g.3063C>T mutType nonsense NPbase_NP_DNA:g.5171G>A protEffect V61X90 NPbase_NP_DNA:g.5171G>A mutType deletion NPbase_NP_DNA:g.7095C>G protEffect H257D NPbase_NP_DNA:g.7095C>G mutType missense NPbase_NP_DNA:g.3072G>T protEffect G4X32 NPbase_NP_DNA:g.3072G>T mutType deletion NPbase_NP_DNA:g.7027G>C protEffect R234P NPbase_NP_DNA:g.7027G>C mutType missense NPbase_NP_DNA:g.5150G>A protEffect E89K NPbase_NP_DNA:g.5150G>A mutType missense NPbase_NP_DNA:g.5715G>C protEffect A174P NPbase_NP_DNA:g.5715G>C mutType missense NPbase_NP_DNA:g.5431G>A protEffect A117T NPbase_NP_DNA:g.5431G>A mutType missense NPbase_NP_DNA:g.5465A>G protEffect D128G NPbase_NP_DNA:g.5465A>G mutType missense NPbase_NP_DNA:g.5467_5469delATC protEffect I129del NPbase_NP_DNA:g.5467_5469delATC mutType inframe NPbase_NP_DNA:g.5662G>C protEffect G156A NPbase_NP_DNA:g.5662G>C mutType missense NPbase_NP_DNA:g.5764G>T protEffect G190V NPbase_NP_DNA:g.5764G>T mutType missense NPbase_NP_DNA:g.5770A>G protEffect Y192C NPbase_NP_DNA:g.5770A>G mutType missense NPbase_NP_DNA:g.7056delA protEffect K244X261 NPbase_NP_DNA:g.7056delA mutType frameshift NPbase_NP_DNA:g.5350G>A protEffect V96X130 NPbase_NP_DNA:g.5350G>A mutType insertion NRASbase_D0125:g.40791G>A protEffect G13D NRASbase_D0125:g.40791G>A mutType missense PRF1base_D0067:g.3276G>A protEffect M1I PRF1base_D0067:g.3276G>A mutType missense PRF1base_D0067:g.3481G>T protEffect D70Y PRF1base_D0067:g.3481G>T mutType missense PRF1base_D0067:g.3458_3468del protEffect D62X73 PRF1base_D0067:g.3458_3468del mutType frameshift PRF1base_D0067:g.3274A>G protEffect M1V PRF1base_D0067:g.3274A>G mutType missense PRF1base_D0067:g.5404G>A protEffect G317R PRF1base_D0067:g.5404G>A mutType missense PRF1base_D0067:g.3323delT protEffect L17X50 PRF1base_D0067:g.3323delT mutType frameshift PRF1base_D0067:g.5897A>C protEffect Q481P PRF1base_D0067:g.5897A>C mutType missense PRF1base_D0067:g.3490T>C protEffect C73R PRF1base_D0067:g.3490T>C mutType missense PRF1base_D0067:g.3407G>A protEffect G45E PRF1base_D0067:g.3407G>A mutType missense PRF1base_D0067:g.5113G>A protEffect G220S PRF1base_D0067:g.5113G>A mutType missense PRF1base_D0067:g.3385G>A protEffect V38M PRF1base_D0067:g.3385G>A mutType missense PRF1base_D0067:g.3545C>T protEffect A91V PRF1base_D0067:g.3545C>T mutType missense PRF1base_D0067:g.3389C>A protEffect P39H PRF1base_D0067:g.3389C>A mutType missense PRF1base_D0067:g.3718G>A protEffect G149S PRF1base_D0067:g.3718G>A mutType missense PRF1base_D0067:g.3406G>A protEffect G45R PRF1base_D0067:g.3406G>A mutType missense PRF1base_D0067:g.3433C>T protEffect R54C PRF1base_D0067:g.3433C>T mutType missense PRF1base_D0067:g.3421G>A protEffect V50M PRF1base_D0067:g.3421G>A mutType missense PRF1base_D0067:g.5112C>A protEffect Y219X PRF1base_D0067:g.5112C>A mutType nonsense PRF1base_D0067:g.3463C>T protEffect Q64X PRF1base_D0067:g.3463C>T mutType nonsense PRF1base_D0067:g.3480delC protEffect P69X106 PRF1base_D0067:g.3480delC mutType frameshift PRF1base_D0067:g.5577G>A protEffect W374X PRF1base_D0067:g.5577G>A mutType nonsense PRF1base_D0067:g.5545_5546delCT protEffect L364X456 PRF1base_D0067:g.5545_5546delCT mutType frameshift PRF1base_D0067:g.5683C>T protEffect R410W PRF1base_D0067:g.5683C>T mutType missense PRF1base_D0067:g.3538C>A protEffect P89T PRF1base_D0067:g.3538C>A mutType missense PRF1base_D0067:g.5150G>A protEffect R232H PRF1base_D0067:g.5150G>A mutType missense PRF1base_D0067:g.5717T>G protEffect F421C PRF1base_D0067:g.5717T>G mutType missense PRF1base_D0067:g.3556T>C protEffect W95R PRF1base_D0067:g.3556T>C mutType missense PRF1base_D0067:g.5350C>T protEffect R299C PRF1base_D0067:g.5350C>T mutType missense PRF1base_D0067:g.5536A>T protEffect R361W PRF1base_D0067:g.5536A>T mutType missense PRF1base_D0067:g.5241_5256del protEffect A262X283 PRF1base_D0067:g.5241_5256del mutType frameshift PRF1base_D0067:g.3722C>A protEffect S150X PRF1base_D0067:g.3722C>A mutType nonsense PRF1base_D0067:g.5128C>T protEffect R225W PRF1base_D0067:g.5128C>T mutType missense PRF1base_D0067:g.3742T>G protEffect F157V PRF1base_D0067:g.3742T>G mutType missense PRF1base_D0067:g.6083_6084insT protEffect L543X585 PRF1base_D0067:g.6083_6084insT mutType frameshift PRF1base_D0067:g.5003T>G protEffect V183G PRF1base_D0067:g.5003T>G mutType missense PRF1base_D0067:g.5291G>A protEffect C279Y PRF1base_D0067:g.5291G>A mutType missense PRF1base_D0067:g.5032T>C protEffect F193L PRF1base_D0067:g.5032T>C mutType missense PRF1base_D0067:g.5684G>C protEffect R410P PRF1base_D0067:g.5684G>C mutType missense PRF1base_D0067:g.5056C>A protEffect P201T PRF1base_D0067:g.5056C>A mutType missense PRF1base_D0067:g.5308_5310delAAG protEffect K285del PRF1base_D0067:g.5308_5310delAAG mutType inframe PRF1base_D0067:g.5117C>T protEffect T221I PRF1base_D0067:g.5117C>T mutType missense PRF1base_D0067:g.5121C>A protEffect H222Q PRF1base_D0067:g.5121C>A mutType missense PRF1base_D0067:g.6091delC protEffect P546X612 PRF1base_D0067:g.6091delC mutType frameshift PRF1base_D0067:g.5120A>G protEffect H222R PRF1base_D0067:g.5120A>G mutType missense PRF1base_D0067:g.5126T>A protEffect I224N PRF1base_D0067:g.5126T>A mutType missense PRF1base_D0067:g.5741G>A protEffect G429E PRF1base_D0067:g.5741G>A mutType missense PRF1base_D0067:g.5149C>T protEffect R232C PRF1base_D0067:g.5149C>T mutType missense PRF1base_D0067:g.5636_5637insT protEffect Q394X457 PRF1base_D0067:g.5636_5637insT mutType frameshift PRF1base_D0067:g.5645_5646insTG protEffect C397X420 PRF1base_D0067:g.5645_5646insTG mutType frameshift PRF1base_D0067:g.5173C>G protEffect R240G PRF1base_D0067:g.5173C>G mutType missense PRF1base_D0067:g.5210A>G protEffect N252S PRF1base_D0067:g.5210A>G mutType missense PRF1base_D0067:g.5236G>A protEffect E261K PRF1base_D0067:g.5236G>A mutType missense PRF1base_D0067:g.5306_5317del protEffect 284_288delinsM PRF1base_D0067:g.5306_5317del mutType inframe PRF1base_D0067:g.5369G>A protEffect G305D PRF1base_D0067:g.5369G>A mutType missense PRF1base_D0067:g.5521C>T protEffect R356W PRF1base_D0067:g.5521C>T mutType missense PRF1base_D0067:g.5489C>T protEffect P345L PRF1base_D0067:g.5489C>T mutType missense PRF1base_D0067:g.5538delG protEffect R361X364 PRF1base_D0067:g.5538delG mutType frameshift PRF1base_D0067:g.5946T>A protEffect C497X PRF1base_D0067:g.5946T>A mutType nonsense PRF1base_D0067:g.5701C>T protEffect Q416X PRF1base_D0067:g.5701C>T mutType nonsense PRF1base_D0067:g.5759C>T protEffect T435M PRF1base_D0067:g.5759C>T mutType missense PRF1base_D0067:g.5804C>T protEffect T450M PRF1base_D0067:g.5804C>T mutType missense PRF1base_D0067:g.5831C>T protEffect P459L PRF1base_D0067:g.5831C>T mutType missense PRF1base_D0067:g.6031delT protEffect L526X612 PRF1base_D0067:g.6031delT mutType frameshift PTPRCbase_D0068:g.71646_71651delATGAGT protEffect 361_363delinsH PTPRCbase_D0068:g.71646_71651delATGAGT mutType inframe PTPRCbase_D0068:g.78746G>A protEffect 482_482delins17 PTPRCbase_D0068:g.78746G>A mutType inframe RAB27Abase_D0069:g.36819delG protEffect R50X84 RAB27Abase_D0069:g.36819delG mutType frameshift RAB27Abase_D0069:g.41182T>G protEffect W73G RAB27Abase_D0069:g.41182T>G mutType missense RAB27Abase_D0069:g.47595C>T protEffect Q116X RAB27Abase_D0069:g.47595C>T mutType nonsense RAB27Abase_D0069:g.47601C>T protEffect Q118X RAB27Abase_D0069:g.47601C>T mutType nonsense RAB27Abase_D0069:g.47638T>C protEffect L130P RAB27Abase_D0069:g.47638T>C mutType missense RAB27Abase_D0069:g.47649_47650delAA protEffect K134X135 RAB27Abase_D0069:g.47649_47650delAA mutType frameshift RAB27Abase_D0069:g.47703G>C protEffect A152P RAB27Abase_D0069:g.47703G>C mutType missense RAB27Abase_D0069:g.65942_65946delAAGCC protEffect I170X173 RAB27Abase_D0069:g.65942_65946delAAGCC mutType frameshift RAB27Abase_D0069:g.65982C>T protEffect R184X RAB27Abase_D0069:g.65982C>T mutType nonsense RAB27Abase_D0069:g.41207A>G protEffect V52X54 RAB27Abase_D0069:g.41207A>G mutType deletion RAC2base_D0070:g.12413G>A protEffect D57N RAC2base_D0070:g.12413G>A mutType missense RAG1base_HSRAG1:g.368_369delAA protEffect K86X118 RAG1base_HSRAG1:g.368_369delAA mutType frameshift RAG1base_HSRAG1:g.1398A>G protEffect D429G RAG1base_HSRAG1:g.1398A>G mutType missense RAG1base_HSRAG1:g.1982C>T protEffect R624C RAG1base_HSRAG1:g.1982C>T mutType missense RAG1base_HSRAG1:g.2038_2039ins protEffect V643X651 RAG1base_HSRAG1:g.2038_2039ins mutType frameshift RAG1base_HSRAG1:g.2276G>A protEffect E722K RAG1base_HSRAG1:g.2276G>A mutType missense RAG1base_RAG1_DNA:g.6548_6549delAA protEffect K86X118 RAG1base_RAG1_DNA:g.6548_6549delAA mutType frameshift RAG1base_RAG1_DNA:g.7291T>A protEffect Y333X RAG1base_RAG1_DNA:g.7291T>A mutType nonsense RAG1base_HSRAG1:g.631delT protEffect T173X200 RAG1base_HSRAG1:g.631delT mutType frameshift RAG1base_RAG1_DNA:g.6811delT protEffect T173X200 RAG1base_RAG1_DNA:g.6811delT mutType frameshift RAG1base_HSRAG1:g.887delA protEffect S259X263 RAG1base_HSRAG1:g.887delA mutType frameshift RAG1base_HSRAG1:g.1095G>A protEffect C328Y RAG1base_HSRAG1:g.1095G>A mutType missense RAG1base_HSRAG1:g.1173delT protEffect L354X356 RAG1base_HSRAG1:g.1173delT mutType frameshift RAG1base_HSRAG1:g.2727T>A protEffect F872X RAG1base_HSRAG1:g.2727T>A mutType nonsense RAG1base_HSRAG1:g.1258delA protEffect 382_382delins21 RAG1base_HSRAG1:g.1258delA mutType frameshift RAG1base_HSRAG1:g.1298C>T protEffect R396C RAG1base_HSRAG1:g.1298C>T mutType missense RAG1base_HSRAG1:g.2766T>G protEffect L885R RAG1base_HSRAG1:g.2766T>G mutType missense RAG1base_HSRAG1:g.2847A>G protEffect Y912C RAG1base_HSRAG1:g.2847A>G mutType missense RAG1base_HSRAG1:g.1299G>A protEffect R396H RAG1base_HSRAG1:g.1299G>A mutType missense RAG1base_HSRAG1:g.1723_1735del protEffect I537X566 RAG1base_HSRAG1:g.1723_1735del mutType frameshift RAG1base_HSRAG1:g.1299G>T protEffect R396L RAG1base_HSRAG1:g.1299G>T mutType missense RAG1base_HSRAG1:g.3036G>A protEffect R975Q RAG1base_HSRAG1:g.3036G>A mutType missense RAG1base_RAG1_DNA:g.7503G>A protEffect R404Q RAG1base_RAG1_DNA:g.7503G>A mutType missense RAG1base_RAG1_DNA:g.7502C>T protEffect R404W RAG1base_RAG1_DNA:g.7502C>T mutType missense RAG1base_RAG1_DNA:g.8915delT protEffect S875X882 RAG1base_RAG1_DNA:g.8915delT mutType frameshift RAG1base_HSRAG1:g.1341G>A protEffect R410Q RAG1base_HSRAG1:g.1341G>A mutType missense RAG1base_HSRAG1:g.2633C>T protEffect R841W RAG1base_HSRAG1:g.2633C>T mutType missense RAG1base_HSRAG1:g.1409G>A protEffect V433M RAG1base_HSRAG1:g.1409G>A mutType missense RAG1base_HSRAG1:g.1443C>T protEffect A444V RAG1base_HSRAG1:g.1443C>T mutType missense RAG1base_HSRAG1:g.1415A>G protEffect M435V RAG1base_HSRAG1:g.1415A>G mutType missense RAG1base_HSRAG1:g.1789G>T protEffect R559S RAG1base_HSRAG1:g.1789G>T mutType missense RAG1base_HSRAG1:g.1521_1522delGC protEffect C470X509 RAG1base_HSRAG1:g.1521_1522delGC mutType frameshift RAG1base_HSRAG1:g.1533G>A protEffect R474H RAG1base_HSRAG1:g.1533G>A mutType missense RAG1base_HSRAG1:g.2370A>T protEffect H753L RAG1base_HSRAG1:g.2370A>T mutType missense RAG1base_RAG1_DNA:g.7713G>A protEffect R474H RAG1base_RAG1_DNA:g.7713G>A mutType missense RAG1base_RAG1_DNA:g.8481G>T protEffect C730F RAG1base_RAG1_DNA:g.8481G>T mutType missense RAG1base_HSRAG1:g.1631C>T protEffect R507W RAG1base_HSRAG1:g.1631C>T mutType missense RAG1base_HSRAG1:g.1793C>T protEffect R561C RAG1base_HSRAG1:g.1793C>T mutType missense RAG1base_HSRAG1:g.1678G>T protEffect W522C RAG1base_HSRAG1:g.1678G>T mutType missense RAG1base_RAG1_DNA:g.7969G>T protEffect R559S RAG1base_RAG1_DNA:g.7969G>T mutType missense RAG1base_RAG1_DNA:g.8981C>T protEffect R897X RAG1base_RAG1_DNA:g.8981C>T mutType nonsense RAG1base_HSRAG1:g.1794G>A protEffect R561H RAG1base_HSRAG1:g.1794G>A mutType missense RAG1base_HSRAG1:g.2322G>A protEffect R737H RAG1base_HSRAG1:g.2322G>A mutType missense RAG1base_RAG1_DNA:g.7974G>A protEffect R561H RAG1base_RAG1_DNA:g.7974G>A mutType missense RAG1base_HSRAG1:g.1879C>G protEffect Y589X RAG1base_HSRAG1:g.1879C>G mutType nonsense RAG1base_HSRAG1:g.1983G>A protEffect R624H RAG1base_HSRAG1:g.1983G>A mutType missense RAG1base_HSRAG1:g.2801C>T protEffect R897X RAG1base_HSRAG1:g.2801C>T mutType nonsense RAG1base_RAG1_DNA:g.8163G>A protEffect R624H RAG1base_RAG1_DNA:g.8163G>A mutType missense RAG1base_RAG1_DNA:g.9266A>G protEffect K992E RAG1base_RAG1_DNA:g.9266A>G mutType missense RAG1base_HSRAG1:g.2118A>G protEffect E669G RAG1base_HSRAG1:g.2118A>G mutType missense RAG1base_HSRAG1:g.2812C>A protEffect C900X RAG1base_HSRAG1:g.2812C>A mutType nonsense RAG1base_HSRAG1:g.2182_2189delAATGCTTG protEffect L690X708 RAG1base_HSRAG1:g.2182_2189delAATGCTTG mutType frameshift RAG1base_HSRAG1:g.2432G>T protEffect E774X RAG1base_HSRAG1:g.2432G>T mutType nonsense RAG1base_RAG1_DNA:g.8486C>T protEffect L732F RAG1base_RAG1_DNA:g.8486C>T mutType missense RAG1base_HSRAG1:g.2676A>T protEffect N855I RAG1base_HSRAG1:g.2676A>T mutType missense RAG1base_HSRAG1:g.2926T>G protEffect Y938X RAG1base_HSRAG1:g.2926T>G mutType nonsense RAG1base_HSRAG1:g.2988G>A protEffect W959X RAG1base_HSRAG1:g.2988G>A mutType nonsense RAG1base_RAG1_DNA:g.9210G>A protEffect R973H RAG1base_RAG1_DNA:g.9210G>A mutType missense RAG2base_RAG2_DNA:g.5114C>T protEffect Q16X RAG2base_RAG2_DNA:g.5114C>T mutType nonsense RAG2base_HSRAG2X:g.1305G>T protEffect G35V RAG2base_HSRAG2X:g.1305G>T mutType missense RAG2base_RAG2_DNA:g.5172G>T protEffect G35V RAG2base_RAG2_DNA:g.5172G>T mutType missense RAG2base_HSRAG2X:g.1316A>G protEffect R39G RAG2base_HSRAG2X:g.1316A>G mutType missense RAG2base_HSRAG2X:g.1887G>A protEffect R229Q RAG2base_HSRAG2X:g.1887G>A mutType missense RAG2base_RAG2_DNA:g.5183A>G protEffect R39G RAG2base_RAG2_DNA:g.5183A>G mutType missense RAG2base_RAG2_DNA:g.5754G>A protEffect R229Q RAG2base_RAG2_DNA:g.5754G>A mutType missense RAG2base_HSRAG2X:g.1324C>G protEffect C41W RAG2base_HSRAG2X:g.1324C>G mutType missense RAG2base_HSRAG2X:g.2055T>G protEffect M285R RAG2base_HSRAG2X:g.2055T>G mutType missense RAG2base_HSRAG2X:g.1484G>A protEffect G95R RAG2base_HSRAG2X:g.1484G>A mutType missense RAG2base_HSRAG2X:g.2558T>A protEffect W453R RAG2base_HSRAG2X:g.2558T>A mutType missense RAG2base_RAG2_DNA:g.5351G>A protEffect G95R RAG2base_RAG2_DNA:g.5351G>A mutType missense RAG2base_RAG2_DNA:g.5753C>T protEffect R229W RAG2base_RAG2_DNA:g.5753C>T mutType missense RAG2base_HSRAG2X:g.1664_1665insTGTTC protEffect L155X177 RAG2base_HSRAG2X:g.1664_1665insTGTTC mutType frameshift RAG2base_HSRAG2X:g.1643C>T protEffect R148X RAG2base_HSRAG2X:g.1643C>T mutType nonsense RAG2base_HSRAG2X:g.1818T>G protEffect F206C RAG2base_HSRAG2X:g.1818T>G mutType missense RAG2base_RAG2_DNA:g.5712C>T protEffect T215I RAG2base_RAG2_DNA:g.5712C>T mutType missense RAG2base_HSRAG2X:g.1886C>T protEffect R229W RAG2base_HSRAG2X:g.1886C>T mutType missense RAG2base_RAG2_DNA:g.5780delG protEffect V238X247 RAG2base_RAG2_DNA:g.5780delG mutType frameshift RAG2base_HSRAG2X:g.2018_2020delATT protEffect I273del RAG2base_HSRAG2X:g.2018_2020delATT mutType inframe RAG2base_HSRAG2X:g.2122G>A mutType nonsense RAG2base_RAG2_DNA:g.6425T>A protEffect W453R RAG2base_RAG2_DNA:g.6425T>A mutType missense RAG2base_HSRAG2X:g.2622A>G protEffect N474S RAG2base_HSRAG2X:g.2622A>G mutType missense RAG2base_HSRAG2X:g.2634G>A protEffect C478Y RAG2base_HSRAG2X:g.2634G>A mutType missense RAG2base_RAG2_DNA:g.6510A>C protEffect H481P RAG2base_RAG2_DNA:g.6510A>C mutType missense RFX5base_D0073:g.32168G>A protEffect R149Q RFX5base_D0073:g.32168G>A mutType missense RFX5base_D0073:g.33455C>T protEffect R294X RFX5base_D0073:g.33455C>T mutType nonsense RFX5base_D0073:g.33536C>T protEffect Q321X RFX5base_D0073:g.33536C>T mutType nonsense RFX5base_D0073:g.30412G>A protEffect G36X43 RFX5base_D0073:g.30412G>A mutType frameshift RFX5base_D0073:g.31423G>A protEffect Q51X83 RFX5base_D0073:g.31423G>A mutType frameshift RFX5base_D0073:g.31764G>A protEffect S78X85 RFX5base_D0073:g.31764G>A mutType frameshift RFXANKbase_D0074:g.5932G>T protEffect E102X RFXANKbase_D0074:g.5932G>T mutType nonsense RFXANKbase_D0074:g.6280delT protEffect L128X203 RFXANKbase_D0074:g.6280delT mutType frameshift RFXANKbase_D0074:g.6820G>T protEffect G147_W188del RFXANKbase_D0074:g.6820G>T mutType inframe RFXANKbase_D0074:g.6851C>T protEffect R157X RFXANKbase_D0074:g.6851C>T mutType nonsense RFXANKbase_D0074:g.7390T>C protEffect L195P RFXANKbase_D0074:g.7390T>C mutType missense RFXANKbase_D0074:g.5761G>C protEffect 63_91delinsA RFXANKbase_D0074:g.5761G>C mutType inframe RFXANKbase_D0074:g.6210_6235del protEffect S91X124 RFXANKbase_D0074:g.6210_6235del mutType deletion RFXANKbase_D0074:g.6313_6370del protEffect S91X124 RFXANKbase_D0074:g.6313_6370del mutType deletion RFXAPbase_D0075:g.52509_52510insGCGGGGC protEffect P12X74 RFXAPbase_D0075:g.52509_52510insGCGGGGC mutType frameshift RFXAPbase_D0075:g.52638C>T protEffect Q55X RFXAPbase_D0075:g.52638C>T mutType nonsense RFXAPbase_D0075:g.52843delG protEffect S123X137 RFXAPbase_D0075:g.52843delG mutType frameshift SBDSbase_D0076:g.1240G>A protEffect R19Q SBDSbase_D0076:g.1240G>A mutType missense SBDSbase_D0076:g.2392T>C protEffect C84X87 SBDSbase_D0076:g.2392T>C mutType deletion SBDSbase_D0076:g.1277C>G protEffect C31W SBDSbase_D0076:g.1277C>G mutType missense SBDSbase_D0076:g.1279A>G protEffect Y32C SBDSbase_D0076:g.1279A>G mutType missense SBDSbase_D0076:g.1281A>G protEffect K33E SBDSbase_D0076:g.1281A>G mutType missense SBDSbase_D0076:g.1285A>T protEffect N34I SBDSbase_D0076:g.1285A>T mutType missense SBDSbase_D0076:g.1284dupA protEffect N34X49 SBDSbase_D0076:g.1284dupA mutType frameshift SBDSbase_D0076:g.1291delT protEffect V36X58 SBDSbase_D0076:g.1291delT mutType frameshift SBDSbase_D0076:g.1303delG protEffect R40X58 SBDSbase_D0076:g.1303delG mutType frameshift SBDSbase_D0076:g.1307delC protEffect S41X58 SBDSbase_D0076:g.1307delC mutType frameshift SBDSbase_D0076:g.2263A>G protEffect E44G SBDSbase_D0076:g.2263A>G mutType missense SBDSbase_D0076:g.2315_2316delinsCT protEffect S61X62 SBDSbase_D0076:g.2315_2316delinsCT mutType nonsense SBDSbase_D0076:g.3280A>C protEffect K118N SBDSbase_D0076:g.3280A>C mutType missense SBDSbase_D0076:g.2344T>C protEffect L71P SBDSbase_D0076:g.2344T>C mutType missense SBDSbase_D0076:g.2382T>C protEffect C84R SBDSbase_D0076:g.2382T>C mutType missense SBDSbase_D0076:g.3186T>C protEffect I87T SBDSbase_D0076:g.3186T>C mutType missense SBDSbase_D0076:g.3205_3210delTCAAGT protEffect 93_95delinsV SBDSbase_D0076:g.3205_3210delTCAAGT mutType inframe SBDSbase_D0076:g.3218_3221delAAAG protEffect K98X119 SBDSbase_D0076:g.3218_3221delAAAG mutType frameshift SBDSbase_D0076:g.3223_3226delAAGA protEffect 99_100delins21 SBDSbase_D0076:g.3223_3226delAAGA mutType frameshift SBDSbase_D0076:g.3233_3234delCA protEffect Q103X108 SBDSbase_D0076:g.3233_3234delCA mutType frameshift SBDSbase_D0076:g.3288A>C protEffect N121T SBDSbase_D0076:g.3288A>C mutType missense SBDSbase_D0076:g.5364C>T protEffect R175W SBDSbase_D0076:g.5364C>T mutType missense SBDSbase_D0076:g.3354C>T protEffect S143L SBDSbase_D0076:g.3354C>T mutType missense SBDSbase_D0076:g.3369A>G protEffect K148R SBDSbase_D0076:g.3369A>G mutType missense SBDSbase_D0076:g.3384A>G protEffect Q153R SBDSbase_D0076:g.3384A>G mutType missense SBDSbase_D0076:g.5346C>T protEffect R169C SBDSbase_D0076:g.5346C>T mutType missense SBDSbase_D0076:g.5347G>T protEffect R169L SBDSbase_D0076:g.5347G>T mutType missense SBDSbase_D0076:g.8130C>T protEffect R218X SBDSbase_D0076:g.8130C>T mutType nonsense SERPING1base_D0077:g.1778_1779dupGGCCTCCA protEffect R4X8 SERPING1base_D0077:g.1778_1779dupGGCCTCCA mutType frameshift SERPING1base_D0077:g.3391C>G protEffect S22X SERPING1base_D0077:g.3391C>G mutType nonsense SERPING1base_D0077:g.3420C>T protEffect Q32X SERPING1base_D0077:g.3420C>T mutType nonsense SERPING1base_D0077:g.3432_3433delAG protEffect 36_36delins21 SERPING1base_D0077:g.3432_3433delAG mutType frameshift SERPING1base_D0077:g.3446_3447delAG protEffect R40X56 SERPING1base_D0077:g.3446_3447delAG mutType frameshift SERPING1base_D0077:g.3446delA protEffect R40X78 SERPING1base_D0077:g.3446delA mutType frameshift SERPING1base_D0077:g.3486delC protEffect L54X78 SERPING1base_D0077:g.3486delC mutType frameshift SERPING1base_D0077:g.3490delT protEffect F55X78 SERPING1base_D0077:g.3490delT mutType frameshift SERPING1base_D0077:g.3513delT protEffect S63X78 SERPING1base_D0077:g.3513delT mutType frameshift SERPING1base_D0077:g.3535C>G protEffect S70X SERPING1base_D0077:g.3535C>G mutType nonsense SERPING1base_D0077:g.3596delC protEffect P90X147 SERPING1base_D0077:g.3596delC mutType frameshift SERPING1base_D0077:g.3617_3621delACCCA protEffect Q97X130 SERPING1base_D0077:g.3617_3621delACCCA mutType frameshift SERPING1base_D0077:g.3640_3643delCAAC protEffect P105X146 SERPING1base_D0077:g.3640_3643delCAAC mutType frameshift SERPING1base_D0077:g.3649dupA protEffect Q108X132 SERPING1base_D0077:g.3649dupA mutType frameshift SERPING1base_D0077:g.3672C>T protEffect Q116X SERPING1base_D0077:g.3672C>T mutType nonsense SERPING1base_D0077:g.3715G>A protEffect C130Y SERPING1base_D0077:g.3715G>A mutType missense SERPING1base_D0077:g.3716_3717delCT protEffect C130X131 SERPING1base_D0077:g.3716_3717delCT mutType frameshift SERPING1base_D0077:g.3756delG protEffect D144X147 SERPING1base_D0077:g.3756delG mutType frameshift SERPING1base_D0077:g.3761_3802del protEffect 145_159delinsA SERPING1base_D0077:g.3761_3802del mutType inframe SERPING1base_D0077:g.3788C>G protEffect Y154X SERPING1base_D0077:g.3788C>G mutType nonsense SERPING1base_D0077:g.3832T>C protEffect F169S SERPING1base_D0077:g.3832T>C mutType missense SERPING1base_D0077:g.3834T>C protEffect S170P SERPING1base_D0077:g.3834T>C mutType missense SERPING1base_D0077:g.3838C>T protEffect P171L SERPING1base_D0077:g.3838C>T mutType missense SERPING1base_D0077:g.5533G>A protEffect G184E SERPING1base_D0077:g.5533G>A mutType missense SERPING1base_D0077:g.3876G>A protEffect G184R SERPING1base_D0077:g.3876G>A mutType missense SERPING1base_D0077:g.3876G>C protEffect G184R SERPING1base_D0077:g.3876G>C mutType missense SERPING1base_D0077:g.5553delA protEffect T191X210 SERPING1base_D0077:g.5553delA mutType frameshift SERPING1base_D0077:g.5553dupA protEffect T191X256 SERPING1base_D0077:g.5553dupA mutType frameshift SERPING1base_D0077:g.5560T>C protEffect L193P SERPING1base_D0077:g.5560T>C mutType missense SERPING1base_D0077:g.5577T>A protEffect Y199N SERPING1base_D0077:g.5577T>A mutType missense SERPING1base_D0077:g.5582delC protEffect 200_200delins11 SERPING1base_D0077:g.5582delC mutType frameshift SERPING1base_D0077:g.5596G>A protEffect C205Y SERPING1base_D0077:g.5596G>A mutType missense SERPING1base_D0077:g.5604delC protEffect Q208X210 SERPING1base_D0077:g.5604delC mutType frameshift SERPING1base_D0077:g.5610delC protEffect L210X SERPING1base_D0077:g.5610delC mutType nonsense SERPING1base_D0077:g.5642dupA protEffect V221X256 SERPING1base_D0077:g.5642dupA mutType frameshift SERPING1base_D0077:g.5649C>T protEffect Q223X SERPING1base_D0077:g.5649C>T mutType nonsense SERPING1base_D0077:g.5653T>G protEffect I224S SERPING1base_D0077:g.5653T>G mutType missense SERPING1base_D0077:g.9684_9685delinsAA protEffect V288E SERPING1base_D0077:g.9684_9685delinsAA mutType missense SERPING1base_D0077:g.9528T>C protEffect F236S SERPING1base_D0077:g.9528T>C mutType missense SERPING1base_D0077:g.9552_9553delinsT protEffect Y244X251 SERPING1base_D0077:g.9552_9553delinsT mutType frameshift SERPING1base_D0077:g.9564C>G protEffect P248R SERPING1base_D0077:g.9564C>G mutType missense SERPING1base_D0077:g.9565delC protEffect P248X251 SERPING1base_D0077:g.9565delC mutType frameshift SERPING1base_D0077:g.9572delC protEffect L251X SERPING1base_D0077:g.9572delC mutType nonsense SERPING1base_D0077:g.1142C>G mutType upstream SERPING1base_D0077:g.9637_9639delCAA protEffect 272_273delinsK SERPING1base_D0077:g.9637_9639delCAA mutType inframe SERPING1base_D0077:g.9599G>T protEffect E260X SERPING1base_D0077:g.9599G>T mutType nonsense SERPING1base_D0077:g.9616G>A protEffect W265X SERPING1base_D0077:g.9616G>A mutType nonsense SERPING1base_D0077:g.9630_9631dupAACAC protEffect 270_270delins11 SERPING1base_D0077:g.9630_9631dupAACAC mutType frameshift SERPING1base_D0077:g.9638_9640delAAG protEffect K273del SERPING1base_D0077:g.9638_9640delAAG mutType inframe SERPING1base_D0077:g.9639_9641delAGA protEffect 273_274delinsI SERPING1base_D0077:g.9639_9641delAGA mutType inframe SERPING1base_D0077:g.9641A>G protEffect I274V SERPING1base_D0077:g.9641A>G mutType missense SERPING1base_D0077:g.9675_9676delCC protEffect T285X303 SERPING1base_D0077:g.9675_9676delCC mutType frameshift SERPING1base_D0077:g.9699T>C protEffect I293T SERPING1base_D0077:g.9699T>C mutType missense SERPING1base_D0077:g.9699_9702delTCTA protEffect I293X294 SERPING1base_D0077:g.9699_9702delTCTA mutType frameshift SERPING1base_D0077:g.9705T>G protEffect L295R SERPING1base_D0077:g.9705T>G mutType missense SERPING1base_D0077:g.9919_9921delACA protEffect T302del SERPING1base_D0077:g.9919_9921delACA mutType inframe SERPING1base_D0077:g.9923T>G protEffect F303C SERPING1base_D0077:g.9923T>G mutType missense SERPING1base_D0077:g.9989T>C protEffect M325T SERPING1base_D0077:g.9989T>C mutType missense SERPING1base_D0077:g.9996_9997delCA protEffect S327X336 SERPING1base_D0077:g.9996_9997delCA mutType frameshift SERPING1base_D0077:g.10005C>G protEffect Y330X SERPING1base_D0077:g.10005C>G mutType nonsense SERPING1base_D0077:g.15213_15432del protEffect V344X357 SERPING1base_D0077:g.15213_15432del mutType deletion SERPING1base_D0077:g.15216G>A protEffect G345R SERPING1base_D0077:g.15216G>A mutType missense SERPING1base_D0077:g.15219C>T protEffect Q346X SERPING1base_D0077:g.15219C>T mutType nonsense SERPING1base_D0077:g.15252delA protEffect I357X363 SERPING1base_D0077:g.15252delA mutType frameshift SERPING1base_D0077:g.15264C>T protEffect Q361X SERPING1base_D0077:g.15264C>T mutType nonsense SERPING1base_D0077:g.15289delA protEffect D369X396 SERPING1base_D0077:g.15289delA mutType frameshift SERPING1base_D0077:g.15297C>T protEffect Q372X SERPING1base_D0077:g.15297C>T mutType nonsense SERPING1base_D0077:g.15319T>C protEffect F379S SERPING1base_D0077:g.15319T>C mutType missense SERPING1base_D0077:g.15363A>C protEffect T394P SERPING1base_D0077:g.15363A>C mutType missense SERPING1base_D0077:g.15379C>T protEffect P399L SERPING1base_D0077:g.15379C>T mutType missense SERPING1base_D0077:g.15379C>G protEffect P399R SERPING1base_D0077:g.15379C>G mutType missense SERPING1base_D0077:g.15386dupC protEffect K402X424 SERPING1base_D0077:g.15386dupC mutType frameshift SERPING1base_D0077:g.15406A>T protEffect D408V SERPING1base_D0077:g.15406A>T mutType missense SERPING1base_D0077:g.15409T>C protEffect M409T SERPING1base_D0077:g.15409T>C mutType missense SERPING1base_D0077:g.15410delG protEffect M409X430 SERPING1base_D0077:g.15410delG mutType frameshift SERPING1base_D0077:g.15415C>A protEffect S411X SERPING1base_D0077:g.15415C>A mutType nonsense SERPING1base_D0077:g.17838delT protEffect S422X430 SERPING1base_D0077:g.17838delT mutType frameshift SERPING1base_D0077:g.17842dupA protEffect Y423X SERPING1base_D0077:g.17842dupA mutType nonsense SERPING1base_D0077:g.17858_17859delTG protEffect 428_429delins40 SERPING1base_D0077:g.17858_17859delTG mutType frameshift SERPING1base_D0077:g.17880delC protEffect L436X449 SERPING1base_D0077:g.17880delC mutType frameshift SERPING1base_D0077:g.17890delC protEffect 439_439delins11 SERPING1base_D0077:g.17890delC mutType frameshift SERPING1base_D0077:g.17889delT protEffect 439_439delins11 SERPING1base_D0077:g.17889delT mutType frameshift SERPING1base_D0077:g.17902A>G protEffect H443R SERPING1base_D0077:g.17902A>G mutType missense SERPING1base_D0077:g.17917_17919delinsT protEffect E448X471 SERPING1base_D0077:g.17917_17919delinsT mutType frameshift SERPING1base_D0077:g.17925_17926delGA protEffect 451_451delins21 SERPING1base_D0077:g.17925_17926delGA mutType frameshift SERPING1base_D0077:g.17924dupA protEffect E451X472 SERPING1base_D0077:g.17924dupA mutType frameshift SERPING1base_D0077:g.17931_17932insTGT protEffect 453_453delinsVW SERPING1base_D0077:g.17931_17932insTGT mutType inframe SERPING1base_D0077:g.17935T>A protEffect V454E SERPING1base_D0077:g.17935T>A mutType missense SERPING1base_D0077:g.17934_17967del protEffect V454X535 SERPING1base_D0077:g.17934_17967del mutType frameshift SERPING1base_D0077:g.17941C>A protEffect A456E SERPING1base_D0077:g.17941C>A mutType missense SERPING1base_D0077:g.17946G>A protEffect A458T SERPING1base_D0077:g.17946G>A mutType missense SERPING1base_D0077:g.17952T>C protEffect S460P SERPING1base_D0077:g.17952T>C mutType missense SERPING1base_D0077:g.17956_17957dup protEffect A461X555 SERPING1base_D0077:g.17956_17957dup mutType frameshift SERPING1base_D0077:g.17959T>G protEffect I462S SERPING1base_D0077:g.17959T>G mutType missense SERPING1base_D0077:g.17957dupC protEffect 462_462delins11 SERPING1base_D0077:g.17957dupC mutType frameshift SERPING1base_D0077:g.17970C>T protEffect R466C SERPING1base_D0077:g.17970C>T mutType missense SERPING1base_D0077:g.17971G>A protEffect R466H SERPING1base_D0077:g.17971G>A mutType missense SERPING1base_D0077:g.17971G>T protEffect R466L SERPING1base_D0077:g.17971G>T mutType missense SERPING1base_D0077:g.17971G>C protEffect R466P SERPING1base_D0077:g.17971G>C mutType missense SERPING1base_D0077:g.17970C>A protEffect R466S SERPING1base_D0077:g.17970C>A mutType missense SERPING1base_D0077:g.17973A>C protEffect T467P SERPING1base_D0077:g.17973A>C mutType missense SERPING1base_D0077:g.17972_17973dup protEffect T467X553 SERPING1base_D0077:g.17972_17973dup mutType frameshift SERPING1base_D0077:g.17992T>A protEffect V473E SERPING1base_D0077:g.17992T>A mutType missense SERPING1base_D0077:g.17992T>G protEffect V473G SERPING1base_D0077:g.17992T>G mutType missense SERPING1base_D0077:g.17991G>A protEffect V473M SERPING1base_D0077:g.17991G>A mutType missense SERPING1base_D0077:g.17994C>G protEffect Q474E SERPING1base_D0077:g.17994C>G mutType missense SERPING1base_D0077:g.18016T>G protEffect L481R SERPING1base_D0077:g.18016T>G mutType missense SERPING1base_D0077:g.18004T>C protEffect F477S SERPING1base_D0077:g.18004T>C mutType missense SERPING1base_D0077:g.18009T>C protEffect F479L SERPING1base_D0077:g.18009T>C mutType missense SERPING1base_D0077:g.18016T>C protEffect L481P SERPING1base_D0077:g.18016T>C mutType missense SERPING1base_D0077:g.18020G>A protEffect W482X SERPING1base_D0077:g.18020G>A mutType nonsense SERPING1base_D0077:g.18024C>T protEffect Q484X SERPING1base_D0077:g.18024C>T mutType nonsense SERPING1base_D0077:g.18040C>G protEffect P489R SERPING1base_D0077:g.18040C>G mutType missense SERPING1base_D0077:g.18043T>A protEffect V490D SERPING1base_D0077:g.18043T>A mutType missense SERPING1base_D0077:g.18049T>A protEffect M492K SERPING1base_D0077:g.18049T>A mutType missense SERPING1base_D0077:g.18052G>A protEffect G493E SERPING1base_D0077:g.18052G>A mutType missense SERPING1base_D0077:g.18051G>A protEffect G493R SERPING1base_D0077:g.18051G>A mutType missense SERPING1base_D0077:g.18054C>T protEffect R494X SERPING1base_D0077:g.18054C>T mutType nonsense SERPING1base_D0077:g.18067C>G protEffect P498R SERPING1base_D0077:g.18067C>G mutType missense SERPING1base_D0077:g.18066C>T protEffect P498S SERPING1base_D0077:g.18066C>T mutType missense SERPING1base_D0077:g.18075T>A protEffect X501X586 SERPING1base_D0077:g.18075T>A mutType terminator SERPING1base_D0077:g.5531delA protEffect 184_229delinsD SERPING1base_D0077:g.5531delA mutType inframe SERPING1base_D0077:g.9504C>G protEffect 229_297delinsA SERPING1base_D0077:g.9504C>G mutType inframe SERPING1base_D0077:g.9712T>C protEffect 229_297delinsA SERPING1base_D0077:g.9712T>C mutType inframe SERPING1base_D0077:g.9703C>G protEffect 229_297delinsA SERPING1base_D0077:g.9703C>G mutType inframe SERPING1base_D0077:g.1080C>T mutType upstream SERPING1base_D0077:g.15434delT protEffect V344X357 SERPING1base_D0077:g.15434delT mutType deletion SERPING1base_D0077:g.4375_7263del protEffect 184_229delinsD SERPING1base_D0077:g.4375_7263del mutType inframe SH2D1Abase_D0078:g.39340A>G protEffect Y7C SH2D1Abase_D0078:g.39340A>G mutType missense SH2D1Abase_D0078:g.39342C>G protEffect H8D SH2D1Abase_D0078:g.39342C>G mutType missense SH2D1Abase_D0078:g.39343A>C protEffect H8P SH2D1Abase_D0078:g.39343A>C mutType missense SH2D1Abase_D0078:g.39367G>A protEffect G16D SH2D1Abase_D0078:g.39367G>A mutType missense SH2D1Abase_D0078:g.39399G>A protEffect G27S SH2D1Abase_D0078:g.39399G>A mutType missense SH2D1Abase_D0078:g.39404C>G protEffect S28R SH2D1Abase_D0078:g.39404C>G mutType missense SH2D1Abase_D0078:g.39412T>C protEffect L31P SH2D1Abase_D0078:g.39412T>C mutType missense SH2D1Abase_D0078:g.39415G>C protEffect R32T SH2D1Abase_D0078:g.39415G>C mutType missense SH2D1Abase_D0078:g.39417G>T protEffect D33Y SH2D1Abase_D0078:g.39417G>T mutType missense SH2D1Abase_D0078:g.39420A>G protEffect S34G SH2D1Abase_D0078:g.39420A>G mutType missense SH2D1Abase_D0078:g.39422C>A protEffect S34R SH2D1Abase_D0078:g.39422C>A mutType missense SH2D1Abase_D0078:g.39446C>G protEffect C42W SH2D1Abase_D0078:g.39446C>G mutType missense SH2D1Abase_D0078:g.58439_58502del protEffect L46X59 SH2D1Abase_D0078:g.58439_58502del mutType frameshift SH2D1Abase_D0078:g.58441_58487del protEffect Y47X51 SH2D1Abase_D0078:g.58441_58487del mutType frameshift SH2D1Abase_D0078:g.58447G>T protEffect G49V SH2D1Abase_D0078:g.58447G>T mutType missense SH2D1Abase_D0078:g.58447dupG protEffect G49X67 SH2D1Abase_D0078:g.58447dupG mutType frameshift SH2D1Abase_D0078:g.58459C>G protEffect T53R SH2D1Abase_D0078:g.58459C>G mutType missense SH2D1Abase_D0078:g.58462A>G protEffect Y54C SH2D1Abase_D0078:g.58462A>G mutType missense SH2D1Abase_D0078:g.58465G>T protEffect R55L SH2D1Abase_D0078:g.58465G>T mutType missense SH2D1Abase_D0078:g.58464C>T protEffect R55X SH2D1Abase_D0078:g.58464C>T mutType nonsense SH2D1Abase_D0078:g.58473C>T protEffect Q58X SH2D1Abase_D0078:g.58473C>T mutType nonsense SH2D1Abase_D0078:g.58492G>A protEffect W64X SH2D1Abase_D0078:g.58492G>A mutType nonsense SH2D1Abase_D0078:g.58502G>T protEffect E67D SH2D1Abase_D0078:g.58502G>T mutType missense SH2D1Abase_D0078:g.62855C>T protEffect T68I SH2D1Abase_D0078:g.62855C>T mutType missense SH2D1Abase_D0078:g.62880T>A protEffect Y76X SH2D1Abase_D0078:g.62880T>A mutType nonsense SH2D1Abase_D0078:g.62891_62894delTAAA protEffect I80X94 SH2D1Abase_D0078:g.62891_62894delTAAA mutType frameshift SH2D1Abase_D0078:g.62897dupA protEffect N82X103 SH2D1Abase_D0078:g.62897dupA mutType frameshift SH2D1Abase_D0078:g.62901_62908delCATTTCAG protEffect L83X100 SH2D1Abase_D0078:g.62901_62908delCATTTCAG mutType frameshift SH2D1Abase_D0078:g.62903T>C protEffect I84T SH2D1Abase_D0078:g.62903T>C mutType missense SH2D1Abase_D0078:g.62912T>C mutType missense SH2D1Abase_D0078:g.62937delA protEffect V95X117 SH2D1Abase_D0078:g.62937delA mutType frameshift SH2D1Abase_D0078:g.62948A>C protEffect Q99P SH2D1Abase_D0078:g.62948A>C mutType missense SH2D1Abase_D0078:g.62952T>A protEffect Y100X SH2D1Abase_D0078:g.62952T>A mutType nonsense SH2D1Abase_D0078:g.62954C>T protEffect P101L SH2D1Abase_D0078:g.62954C>T mutType missense SH2D1Abase_D0078:g.62957T>G protEffect V102G SH2D1Abase_D0078:g.62957T>G mutType missense SH2D1Abase_D0078:g.64067T>A protEffect X129X141 SH2D1Abase_D0078:g.64067T>A mutType terminator SH2D1Abase_D0078:g.58436C>G protEffect Y47X59 SH2D1Abase_D0078:g.58436C>G mutType loss SH2D1Abase_D0078:g.62853delG mutType frameshift SLC35C1base_D0036:g.1434C>T protEffect R147C SLC35C1base_D0036:g.1434C>T mutType missense SLC35C1base_D0036:g.6022delG protEffect W196X230 SLC35C1base_D0036:g.6022delG mutType frameshift SLC35C1base_D0036:g.6357C>G protEffect T308R SLC35C1base_D0036:g.6357C>G mutType missense SMARCAL1base_D0079:g.1049C>T protEffect R17X SMARCAL1base_D0079:g.1049C>T mutType nonsense SMARCAL1base_D0079:g.1100C>T protEffect Q34X SMARCAL1base_D0079:g.1100C>T mutType nonsense SMARCAL1base_D0079:g.2577T>C protEffect F279S SMARCAL1base_D0079:g.2577T>C mutType missense SMARCAL1base_D0079:g.64512G>T protEffect E848X SMARCAL1base_D0079:g.64512G>T mutType nonsense SMARCAL1base_D0079:g.9968A>C protEffect H379P SMARCAL1base_D0079:g.9968A>C mutType missense SMARCAL1base_D0079:g.6687C>T protEffect Q319X SMARCAL1base_D0079:g.6687C>T mutType nonsense SMARCAL1base_D0079:g.9964G>T protEffect E378X SMARCAL1base_D0079:g.9964G>T mutType nonsense SMARCAL1base_D0079:g.19081G>C protEffect A468P SMARCAL1base_D0079:g.19081G>C mutType missense SMARCAL1base_D0079:g.50936C>T protEffect T705I SMARCAL1base_D0079:g.50936C>T mutType missense SMARCAL1base_D0079:g.21791T>A protEffect I548N SMARCAL1base_D0079:g.21791T>A mutType missense SMARCAL1base_D0079:g.37223C>T protEffect R645C SMARCAL1base_D0079:g.37223C>T mutType missense SMARCAL1base_D0079:g.24752C>T protEffect R561C SMARCAL1base_D0079:g.24752C>T mutType missense SMARCAL1base_D0079:g.61641C>A protEffect S774X SMARCAL1base_D0079:g.61641C>A mutType nonsense SMARCAL1base_D0079:g.33339C>T protEffect S579L SMARCAL1base_D0079:g.33339C>T mutType missense SMARCAL1base_D0079:g.33359C>T protEffect R586W SMARCAL1base_D0079:g.33359C>T mutType missense SMARCAL1base_D0079:g.63436G>A protEffect R820H SMARCAL1base_D0079:g.63436G>A mutType missense SMARCAL1base_D0079:g.37164C>G protEffect S625X SMARCAL1base_D0079:g.37164C>G mutType nonsense SMARCAL1base_D0079:g.37229A>C protEffect K647Q SMARCAL1base_D0079:g.37229A>C mutType missense SMARCAL1base_D0079:g.37230A>C protEffect K647T SMARCAL1base_D0079:g.37230A>C mutType missense SMARCAL1base_D0079:g.61611G>A protEffect R764Q SMARCAL1base_D0079:g.61611G>A mutType missense SP110base_D0116:g.4051delC protEffect Q14X38 SP110base_D0116:g.4051delC mutType frameshift SP110base_D0116:g.8567delC protEffect P214X228 SP110base_D0116:g.8567delC mutType frameshift SPINK5base_D0080:g.7333C>T protEffect Q46X SPINK5base_D0080:g.7333C>T mutType nonsense SPINK5base_D0080:g.9132dupG protEffect A80X98 SPINK5base_D0080:g.9132dupG mutType frameshift SPINK5base_D0080:g.7350delT protEffect F51X57 SPINK5base_D0080:g.7350delT mutType frameshift SPINK5base_D0080:g.28167C>T protEffect R217X SPINK5base_D0080:g.28167C>T mutType nonsense SPINK5base_D0080:g.23385G>T protEffect G103X SPINK5base_D0080:g.23385G>T mutType nonsense SPINK5base_D0080:g.23455_23456delAT protEffect Y126X SPINK5base_D0080:g.23455_23456delAT mutType nonsense SPINK5base_D0080:g.57019C>T protEffect R790X SPINK5base_D0080:g.57019C>T mutType nonsense SPINK5base_D0080:g.23469_23470insCGTG protEffect A131X136 SPINK5base_D0080:g.23469_23470insCGTG mutType frameshift SPINK5base_D0080:g.23470_23471dupGTGC protEffect A131X136 SPINK5base_D0080:g.23470_23471dupGTGC mutType frameshift SPINK5base_D0080:g.23477_23478delTG protEffect C133X134 SPINK5base_D0080:g.23477_23478delTG mutType frameshift SPINK5base_D0080:g.26556_26557delGT protEffect C194X198 SPINK5base_D0080:g.26556_26557delGT mutType frameshift SPINK5base_D0080:g.28146C>T protEffect R210X SPINK5base_D0080:g.28146C>T mutType nonsense SPINK5base_D0080:g.31334delC protEffect Q231X232 SPINK5base_D0080:g.31334delC mutType frameshift SPINK5base_D0080:g.28170C>T protEffect R218X SPINK5base_D0080:g.28170C>T mutType nonsense SPINK5base_D0080:g.31358dupT protEffect C239X244 SPINK5base_D0080:g.31358dupT mutType frameshift SPINK5base_D0080:g.31363_31364insT protEffect R241X244 SPINK5base_D0080:g.31363_31364insT mutType frameshift SPINK5base_D0080:g.36215_36216dupGAAAA protEffect 346_346delins31 SPINK5base_D0080:g.36215_36216dupGAAAA mutType frameshift SPINK5base_D0080:g.37428C>T protEffect R371X SPINK5base_D0080:g.37428C>T mutType nonsense SPINK5base_D0080:g.36265_36266delAT protEffect S362X368 SPINK5base_D0080:g.36265_36266delAT mutType frameshift SPINK5base_D0080:g.53351_53352delAG protEffect R681X708 SPINK5base_D0080:g.53351_53352delAG mutType frameshift SPINK5base_D0080:g.55417C>T protEffect Q713X SPINK5base_D0080:g.55417C>T mutType nonsense SPINK5base_D0080:g.55961A>T protEffect K754X SPINK5base_D0080:g.55961A>T mutType nonsense SPINK5base_D0080:g.55964dupA protEffect N755X756 SPINK5base_D0080:g.55964dupA mutType frameshift SPINK5base_D0080:g.57277delA protEffect 823_823delins101 SPINK5base_D0080:g.57277delA mutType frameshift SPINK5base_D0080:g.37467_37468delGA protEffect E384X403 SPINK5base_D0080:g.37467_37468delGA mutType frameshift SPINK5base_D0080:g.55959dupG protEffect R753X756 SPINK5base_D0080:g.55959dupG mutType frameshift SPINK5base_D0080:g.55965dupA protEffect N755X756 SPINK5base_D0080:g.55965dupA mutType frameshift SPINK5base_D0080:g.57277dupA protEffect K823X827 SPINK5base_D0080:g.57277dupA mutType frameshift SPINK5base_D0080:g.60829delA protEffect K860X923 SPINK5base_D0080:g.60829delA mutType frameshift SPINK5base_D0080:g.56014G>A protEffect 747_771delins11 SPINK5base_D0080:g.56014G>A mutType deletion STAT1base_D0081:g.23382G>C protEffect E320Q STAT1base_D0081:g.23382G>C mutType missense STAT1base_D0081:g.30990G>T protEffect Q463H STAT1base_D0081:g.30990G>T mutType missense STAT1base_D0081:g.35720_35721delAG protEffect E587X604 STAT1base_D0081:g.35720_35721delAG mutType frameshift STAT1base_D0081:g.35759T>C protEffect L600P STAT1base_D0081:g.35759T>C mutType missense STAT1base_D0081:g.38859T>C protEffect L706S STAT1base_D0081:g.38859T>C mutType missense STAT3base_D0128:g.57366G>T protEffect R382L STAT3base_D0128:g.57366G>T mutType missense STAT3base_D0128:g.57366G>A protEffect R382Q STAT3base_D0128:g.57366G>A mutType missense STAT3base_D0128:g.57365C>T protEffect R382W STAT3base_D0128:g.57365C>T mutType missense STAT3base_D0128:g.57371T>C protEffect F384L STAT3base_D0128:g.57371T>C mutType missense STAT3base_D0128:g.57372T>C protEffect F384S STAT3base_D0128:g.57372T>C mutType missense STAT3base_D0128:g.57387C>T protEffect T389I STAT3base_D0128:g.57387C>T mutType missense STAT3base_D0128:g.57585G>A protEffect R423Q STAT3base_D0128:g.57585G>A mutType missense STAT3base_D0128:g.60836C>T protEffect H437Y STAT3base_D0128:g.60836C>T mutType missense STAT3base_D0128:g.61968_61970delGTG protEffect V463del STAT3base_D0128:g.61968_61970delGTG mutType inframe STAT3base_D0128:g.61974T>G protEffect S465A STAT3base_D0128:g.61974T>G mutType missense STAT3base_D0128:g.63948G>A protEffect S611N STAT3base_D0128:g.63948G>A mutType missense STAT3base_D0128:g.63977T>G protEffect F621V STAT3base_D0128:g.63977T>G mutType missense STAT3base_D0128:g.63981C>T protEffect T622I STAT3base_D0128:g.63981C>T mutType missense STAT3base_D0128:g.64534G>T protEffect V637L STAT3base_D0128:g.64534G>T mutType missense STAT3base_D0128:g.64534G>A protEffect V637M STAT3base_D0128:g.64534G>A mutType missense STAT3base_D0128:g.64540C>G protEffect P639A STAT3base_D0128:g.64540C>G mutType missense STAT3base_D0128:g.64555_64557delCAG protEffect Q644del STAT3base_D0128:g.64555_64557delCAG mutType inframe STAT3base_D0128:g.64564A>G protEffect N647D STAT3base_D0128:g.64564A>G mutType missense STAT3base_D0128:g.64579G>A protEffect E652K STAT3base_D0128:g.64579G>A mutType missense STAT3base_D0128:g.64595A>G protEffect Y657C STAT3base_D0128:g.64595A>G mutType missense STAT5Bbase_D0082:g.53986C>T protEffect R152X STAT5Bbase_D0082:g.53986C>T mutType nonsense STAT5Bbase_D0082:g.59246dupC protEffect Q368X376 STAT5Bbase_D0082:g.59246dupC mutType frameshift STAT5Bbase_D0082:g.60021dupG protEffect N398X413 STAT5Bbase_D0082:g.60021dupG mutType frameshift STAT5Bbase_D0082:g.67275G>C protEffect A630P STAT5Bbase_D0082:g.67275G>C mutType missense STX11base_D0083:g.37465_37472delinsTGG protEffect 123_126delins61 STX11base_D0083:g.37465_37472delinsTGG mutType frameshift STX11base_D0083:g.37898C>T protEffect Q268X STX11base_D0083:g.37898C>T mutType nonsense TAP1base_D0084:g.26198delC protEffect D213X228 TAP1base_D0084:g.26198delC mutType frameshift TAP1base_D0084:g.28224C>T protEffect R378X TAP1base_D0084:g.28224C>T mutType nonsense TAP1base_D0084:g.30006C>T protEffect Q522X TAP1base_D0084:g.30006C>T mutType nonsense TAP2base_D0085:g.42937C>T protEffect R220X TAP2base_D0085:g.42937C>T mutType nonsense TAP2base_D0085:g.45870delA protEffect R327X379 TAP2base_D0085:g.45870delA mutType frameshift TAZbase_TAZ_DNA:g.1312_1313insG protEffect H4X133 TAZbase_TAZ_DNA:g.1312_1313insG mutType frameshift TAZbase_TAZ_DNA:g.1356_1357delCC protEffect T18X132 TAZbase_TAZ_DNA:g.1356_1357delCC mutType frameshift TAZbase_TAZ_DNA:g.1559delC protEffect H41X42 TAZbase_TAZ_DNA:g.1559delC mutType frameshift TAZbase_TAZ_DNA:g.1576_1588del protEffect R47X78 TAZbase_TAZ_DNA:g.1576_1588del mutType frameshift TAZbase_TAZ_DNA:g.1589C>G protEffect Y51X TAZbase_TAZ_DNA:g.1589C>G mutType nonsense TAZbase_TAZ_DNA:g.1607delA protEffect R57X82 TAZbase_TAZ_DNA:g.1607delA mutType frameshift TAZbase_TAZ_DNA:g.1643C>G protEffect H69Q TAZbase_TAZ_DNA:g.1643C>G mutType missense TAZbase_TAZ_DNA:g.2708C>T protEffect R94C TAZbase_TAZ_DNA:g.2708C>T mutType missense TAZbase_TAZ_DNA:g.2708C>A protEffect R94S TAZbase_TAZ_DNA:g.2708C>A mutType missense TAZbase_TAZ_DNA:g.9073T>A protEffect F178I TAZbase_TAZ_DNA:g.9073T>A mutType missense TAZbase_TAZ_DNA:g.9076delC protEffect P179X183 TAZbase_TAZ_DNA:g.9076delC mutType frameshift TAZbase_TAZ_DNA:g.9170T>G protEffect V183G TAZbase_TAZ_DNA:g.9170T>G mutType missense TAZbase_TAZ_DNA:g.9184G>T protEffect E188X TAZbase_TAZ_DNA:g.9184G>T mutType nonsense TAZbase_TAZ_DNA:g.9202dupT protEffect W194X202 TAZbase_TAZ_DNA:g.9202dupT mutType frameshift TAZbase_TAZ_DNA:g.9497G>A protEffect G197E TAZbase_TAZ_DNA:g.9497G>A mutType missense TAZbase_TAZ_DNA:g.9496G>A protEffect G197R TAZbase_TAZ_DNA:g.9496G>A mutType missense TAZbase_TAZ_DNA:g.9533T>A protEffect I209N TAZbase_TAZ_DNA:g.9533T>A mutType missense TAZbase_TAZ_DNA:g.9536T>G protEffect L210R TAZbase_TAZ_DNA:g.9536T>G mutType missense TAZbase_TAZ_DNA:g.9542T>C protEffect L212P TAZbase_TAZ_DNA:g.9542T>C mutType missense TAZbase_TAZ_DNA:g.9708delC protEffect 228_228delins11 TAZbase_TAZ_DNA:g.9708delC mutType frameshift TAZbase_TAZ_DNA:g.9721C>T protEffect Q233X TAZbase_TAZ_DNA:g.9721C>T mutType nonsense TAZbase_TAZ_DNA:g.10120dupA protEffect I235X310 TAZbase_TAZ_DNA:g.10120dupA mutType frameshift TAZbase_TAZ_DNA:g.10135G>A protEffect G240R TAZbase_TAZ_DNA:g.10135G>A mutType missense TAZbase_TAZ_DNA:g.2822G>A protEffect W95X96 TAZbase_TAZ_DNA:g.2822G>A mutType insertion TAZbase_TAZ_DNA:g.9670G>C mutType deletion TCIRG1base_AF033033.2:g.2418A>T protEffect V26_D39del TCIRG1base_AF033033.2:g.2418A>T mutType inframe TCIRG1base_AF033033.2:g.4391C>A protEffect N168X175 TCIRG1base_AF033033.2:g.4391C>A mutType frameshift TCIRG1base_AF033033.2:g.4637G>A protEffect G211_W224del TCIRG1base_AF033033.2:g.4637G>A mutType inframe TCIRG1base_AF033033.2:g.4654C>T protEffect Q230X TCIRG1base_AF033033.2:g.4654C>T mutType nonsense TCIRG1base_AF033033.2:g.11647_11650delGGAG protEffect M791X819 TCIRG1base_AF033033.2:g.11647_11650delGGAG mutType frameshift TCIRG1base_AF033033.2:g.6078C>T protEffect Q372X TCIRG1base_AF033033.2:g.6078C>T mutType nonsense TCIRG1base_AF033033.2:g.8759C>A protEffect C248X TCIRG1base_AF033033.2:g.8759C>A mutType nonsense TCIRG1base_AF033033.2:g.5272delC protEffect Q308X311 TCIRG1base_AF033033.2:g.5272delC mutType frameshift TCIRG1base_AF033033.2:g.5320_5321insG protEffect C324X489 TCIRG1base_AF033033.2:g.5320_5321insG mutType frameshift TCIRG1base_AF033033.2:g.5988G>T protEffect E342X TCIRG1base_AF033033.2:g.5988G>T mutType nonsense TCIRG1base_AF033033.2:g.8463_8464insA protEffect Y391X489 TCIRG1base_AF033033.2:g.8463_8464insA mutType frameshift TCIRG1base_AF033033.2:g.8590C>T protEffect Q433X TCIRG1base_AF033033.2:g.8590C>T mutType nonsense TCIRG1base_AF033033.2:g.8749_8751delACA protEffect 461_462delinsY TCIRG1base_AF033033.2:g.8749_8751delACA mutType inframe TCIRG1base_AF033033.2:g.8805_8806delGC protEffect A480X488 TCIRG1base_AF033033.2:g.8805_8806delGC mutType frameshift TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC protEffect 776_779delinsI TCIRG1base_AF033033.2:g.11602_11610delCTTTGCCGC mutType inframe TCIRG1base_AF033033.2:g.10220G>A protEffect W596X TCIRG1base_AF033033.2:g.10220G>A mutType nonsense TCIRG1base_AF033033.2:g.10809C>T protEffect R670X TCIRG1base_AF033033.2:g.10809C>T mutType nonsense TCIRG1base_AF033033.2:g.11086_11160del protEffect 705_730delinsD TCIRG1base_AF033033.2:g.11086_11160del mutType inframe TCIRG1base_AF033033.2:g.11598C>G protEffect P775R TCIRG1base_AF033033.2:g.11598C>G mutType missense TCIRG1base_AF033033.2:g.11765G>A protEffect W805X TCIRG1base_AF033033.2:g.11765G>A mutType nonsense TCN2base_D0088:g.60260delC protEffect L58X85 TCN2base_D0088:g.60260delC mutType frameshift TCN2base_D0088:g.62284delA protEffect S129X206 TCN2base_D0088:g.62284delA mutType frameshift TCN2base_D0088:g.72253T>G protEffect Y370X TCN2base_D0088:g.72253T>G mutType nonsense TCN2base_D0088:g.65056_65059delTCTG protEffect C309X358 TCN2base_D0088:g.65056_65059delTCTG mutType frameshift TCN2base_D0088:g.62326T>G protEffect E117_G143del TCN2base_D0088:g.62326T>G mutType inframe TLR3base_D0124:g.14440T>C protEffect F303S TLR3base_D0124:g.14440T>C mutType missense TLR3base_D0124:g.15192C>T protEffect P554S TLR3base_D0124:g.15192C>T mutType missense TMC6base_D0030:g.7532C>T protEffect R94X TMC6base_D0030:g.7532C>T mutType nonsense TMC6base_D0030:g.8737C>A protEffect Y248X TMC6base_D0030:g.8737C>A mutType nonsense TMC6base_D0030:g.9253_9254dupCATGT protEffect Y306X317 TMC6base_D0030:g.9253_9254dupCATGT mutType frameshift TMC6base_D0030:g.9305delT protEffect L323X349 TMC6base_D0030:g.9305delT mutType frameshift TMC6base_D0030:g.14026G>T protEffect E576X TMC6base_D0030:g.14026G>T mutType nonsense TMC8base_D0031:g.2133G>A protEffect W63X TMC8base_D0031:g.2133G>A mutType nonsense TMC8base_D0031:g.3648_3670del protEffect G187X258 TMC8base_D0031:g.3648_3670del mutType frameshift TMC8base_D0031:g.3655C>T protEffect R190X TMC8base_D0031:g.3655C>T mutType nonsense TMC8base_D0031:g.4152delT protEffect F252X283 TMC8base_D0031:g.4152delT mutType frameshift TMC8base_D0031:g.5179G>T protEffect E362X TMC8base_D0031:g.5179G>T mutType nonsense TNFRSF13Bbase_D0105:g.24109_24110insA protEffect S68X80 TNFRSF13Bbase_D0105:g.24109_24110insA mutType frameshift TNFRSF13Bbase_D0105:g.24216T>C protEffect C104R TNFRSF13Bbase_D0105:g.24216T>C mutType missense TNFRSF13Bbase_D0105:g.24110dupA protEffect L69X80 TNFRSF13Bbase_D0105:g.24110dupA mutType frameshift TNFRSF13Bbase_D0105:g.24337C>A protEffect S144X TNFRSF13Bbase_D0105:g.24337C>A mutType nonsense TNFRSF13Bbase_D0105:g.32674C>A protEffect A181E TNFRSF13Bbase_D0105:g.32674C>A mutType missense TNFRSF13Bbase_D0105:g.32713_32714delinsAA protEffect S194X TNFRSF13Bbase_D0105:g.32713_32714delinsAA mutType nonsense TNFRSF13Bbase_D0105:g.32737G>A protEffect R202H TNFRSF13Bbase_D0105:g.32737G>A mutType missense TYK2base_D0118:g.11027_11030delGCTT protEffect 70_71delins21 TYK2base_D0118:g.11027_11030delGCTT mutType frameshift UNC13Dbase_D0091:g.2475_2476delAC protEffect A59X70 UNC13Dbase_D0091:g.2475_2476delAC mutType frameshift UNC13Dbase_D0091:g.11622_11625delGGAG protEffect R782X793 UNC13Dbase_D0091:g.11622_11625delGGAG mutType frameshift UNC13Dbase_D0091:g.2512delC protEffect P72X75 UNC13Dbase_D0091:g.2512delC mutType frameshift UNC13Dbase_D0091:g.4900delT protEffect T209X248 UNC13Dbase_D0091:g.4900delT mutType frameshift UNC13Dbase_D0091:g.4913C>T protEffect R214X UNC13Dbase_D0091:g.4913C>T mutType nonsense UNC13Dbase_D0091:g.9864G>C protEffect N515X530 UNC13Dbase_D0091:g.9864G>C mutType frameshift UNC13Dbase_D0091:g.5104C>T protEffect R256X UNC13Dbase_D0091:g.5104C>T mutType nonsense UNC13Dbase_D0091:g.5401C>T protEffect R256X UNC13Dbase_D0091:g.5401C>T mutType nonsense UNC13Dbase_D0091:g.5452C>T protEffect R273X UNC13Dbase_D0091:g.5452C>T mutType nonsense UNC13Dbase_D0091:g.15103T>C protEffect L891P UNC13Dbase_D0091:g.15103T>C mutType missense UNC13Dbase_D0091:g.9056T>C protEffect L403P UNC13Dbase_D0091:g.9056T>C mutType missense UNC13Dbase_D0091:g.10214dupT protEffect F585X616 UNC13Dbase_D0091:g.10214dupT mutType frameshift UNC13Dbase_D0091:g.10283_10294del protEffect V608_A611del UNC13Dbase_D0091:g.10283_10294del mutType inframe UNC13Dbase_D0091:g.11622delG protEffect R782X794 UNC13Dbase_D0091:g.11622delG mutType frameshift UNC13Dbase_D0091:g.16911T>G protEffect L1044R UNC13Dbase_D0091:g.16911T>G mutType missense UNC13Dbase_D0091:g.17673C>T protEffect R1065X UNC13Dbase_D0091:g.17673C>T mutType nonsense UNC13Dbase_D0091:g.2794G>A protEffect K108X122 UNC13Dbase_D0091:g.2794G>A mutType frameshift UNC13Dbase_D0091:g.5388G>C protEffect D252X340 UNC13Dbase_D0091:g.5388G>C mutType frameshift UNC93B1base_D0122:g.6765G>A protEffect L230X417 UNC93B1base_D0122:g.6765G>A mutType loss UNC93B1base_D0122:g.8466_8469delCTTT protEffect P345X447 UNC93B1base_D0122:g.8466_8469delCTTT mutType frameshift UNGbase_D0092:g.2632delC protEffect P131X143 UNGbase_D0092:g.2632delC mutType frameshift UNGbase_D0092:g.6265_6266delTA protEffect I190X226 UNGbase_D0092:g.6265_6266delTA mutType frameshift UNGbase_D0092:g.2667_2668delAT protEffect I143X159 UNGbase_D0092:g.2667_2668delAT mutType frameshift UNGbase_D0092:g.6953T>C protEffect F251S UNGbase_D0092:g.6953T>C mutType missense WASbase_AF196970.2:g.32147G>T protEffect E67X WASbase_AF196970.2:g.32147G>T mutType nonsense WASbase_AF196970.2:g.32177G>C protEffect D77H WASbase_AF196970.2:g.32177G>C mutType missense WASbase_AF196970.2:g.33401delC protEffect P110X126 WASbase_AF196970.2:g.33401delC mutType frameshift WASbase_AF196970.2:g.36677delC protEffect 384_384delins61 WASbase_AF196970.2:g.36677delC mutType frameshift ZAP70base_D0057:g.11708C>A protEffect P80Q ZAP70base_D0057:g.11708C>A mutType missense ZAP70base_D0057:g.25518A>T protEffect M572L ZAP70base_D0057:g.25518A>T mutType missense ZAP70base_D0057:g.25009C>T protEffect R465C ZAP70base_D0057:g.25009C>T mutType missense ZAP70base_D0057:g.25217_25229del protEffect K504X539 ZAP70base_D0057:g.25217_25229del mutType frameshift ZAP70base_D0057:g.25227C>T protEffect A507V ZAP70base_D0057:g.25227C>T mutType missense ZAP70base_D0057:g.25261C>A protEffect S518R ZAP70base_D0057:g.25261C>A mutType missense ZAP70base_D0057:g.25417G>A protEffect 541_542insLEQ ZAP70base_D0057:g.25417G>A mutType inframe IPNMDB_397 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_397 commonName c.8C>T IPNMDB_397 alias Thr3Ile IPNMDB_398 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_398 commonName c.1166T>C IPNMDB_398 alias Leu389Ser IPNMDB_399 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_399 commonName c.6407G>A IPNMDB_399 alias Arg2136His IPNMDB_380 phenoCommon dHMN / Silver syndrome (SPG17) IPNMDB_380 commonName c.263A>G IPNMDB_380 alias Asn88Ser IPNMDB_381 phenoCommon dHMN / Silver syndrome (SPG17) IPNMDB_381 commonName c.269C>T IPNMDB_381 alias Ser90Leu IPNMDB_360 phenoCommon congentital cataracts facial dysmorphism neuropathy syndrome IPNMDB_360 commonName c.863+389C>T IPNMDB_360 alias Leu287fs IPNMDB_643 phenoCommon dHMN with vocal fold paralysis IPNMDB_643 commonName c.175G>A IPNMDB_643 alias Gly59Ser IPNMDB_885 phenoCommon centronuclear myopathy + PNS (CMT2) + CNS abnormalies IPNMDB_885 commonName c.1102G>C IPNMDB_885 alias Glu368Gln IPNMDB_886 phenoCommon CMT2 IPNMDB_886 commonName c.1597G>T IPNMDB_886 alias Gly533Cys IPNMDB_729 phenoCommon CMT1/2 IPNMDB_729 commonName c.1652_1659+1delATGAGGAGg VAR_035829 commonName VAR_035829 IPNMDB_729 alias Asp551_Glu553del; Asp551fs IPNMDB_730 phenoCommon CMT1/2 IPNMDB_730 commonName c.1672_1674delAAG IPNMDB_730 alias Lys558del IPNMDB_731 phenoCommon CMT1/2 IPNMDB_731 commonName c.1672A>G IPNMDB_731 alias Lys558Glu IPNMDB_887 phenoCommon CMT2 IPNMDB_887 commonName c.1697T>A IPNMDB_887 alias Leu566His IPNMDB_281 phenoCommon CH IPNMDB_281 commonName c.[803T>A]+[803T>A] IPNMDB_281 alias [Ile268Asn]+[Ile268Asn] IPNMDB_334 phenoCommon CMT1-severe IPNMDB_334 commonName c.1064A>T IPNMDB_334 alias Asp355Val IPNMDB_282 phenoCommon DSS (plus cranial nerve involvement)/CMT1 IPNMDB_282 commonName c.1075C>T IPNMDB_282 alias Arg359Trp IPNMDB_815 phenoCommon CMT1 + progressive scoliosis IPNMDB_815 commonName c.1076G>A IPNMDB_815 alias Arg359Gln IPNMDB_286 phenoCommon - (polymorphism) IPNMDB_286 commonName c.1086A>C IPNMDB_286 alias Arg362Arg IPNMDB_487 phenoCommon CMT1 IPNMDB_487 commonName c.1141C>T IPNMDB_487 alias Arg381Cys IPNMDB_335 phenoCommon CMT1 (+ cranial nerve involvement) IPNMDB_335 commonName c.1142G>A IPNMDB_335 alias Arg381His IPNMDB_283 phenoCommon CH IPNMDB_283 commonName c.[1146T>G;1147G>T] IPNMDB_283 alias [Ser382Arg; Asp383Tyr] IPNMDB_36 phenoCommon DSS IPNMDB_36 commonName c.1147G>T IPNMDB_36 alias Asp383Tyr IPNMDB_284 phenoCommon CMT1 IPNMDB_284 commonName c.1225C>T IPNMDB_284 alias Arg409Trp IPNMDB_923 phenoCommon DSS IPNMDB_923 commonName c.1234G>A IPNMDB_923 alias Glu412Lys IPNMDB_379 phenoCommon unspecified CMT IPNMDB_379 commonName c.1352G>T IPNMDB_379 alias Gly451Val IPNMDB_926 phenoCommon CMT4H IPNMDB_926 commonName c.[670C>T]+[670C>T] IPNMDB_926 alias [Arg224X]+[Arg224X] IPNMDB_930 phenoCommon CMT4H IPNMDB_930 commonName c.[893T>C]+[893T>C] IPNMDB_930 alias [Met298Thr]+[Met298Thr] IPNMDB_927 phenoCommon CMT4H IPNMDB_927 commonName c.[893T>G]+[893T>G] IPNMDB_927 alias [Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs] IPNMDB_928 phenoCommon CMT4H IPNMDB_928 commonName c.[1628_1629delAG]+[1628_1629delAG] IPNMDB_928 alias [Glu543fs]+[Glu543fs] IPNMDB_929 phenoCommon CMT4H IPNMDB_929 commonName c.[1756G>T]+[1756G>T] IPNMDB_929 alias [Gly586X]+[Gly586X] IPNMDB_932 phenoCommon CMT4J IPNMDB_932 commonName c.[122T>C]+[294delT] IPNMDB_932 alias [Ile41Thr]+[Phe98fs] IPNMDB_934 phenoCommon CMT4J IPNMDB_934 commonName c.[122T>C]+[759delG] IPNMDB_934 alias [Ile41Thr]+[Gly253fs] IPNMDB_935 phenoCommon CMT4J IPNMDB_935 commonName c.[122T>C]+[1043_1050delATCAGGCA] IPNMDB_935 alias [Ile41Thr]+[Asp348fs] IPNMDB_474 phenoCommon GAN IPNMDB_474 commonName c.[18_19insA]+[18_19insA] IPNMDB_474 alias [Val7fs]+[Val7fs] IPNMDB_679 phenoCommon GAN IPNMDB_679 commonName c.[20_57del38]+[896A>C] IPNMDB_679 alias [Val7fs]+[Tyr299Cys] IPNMDB_472 phenoCommon GAN IPNMDB_472 commonName c.[43C>A]+[43C>A] IPNMDB_472 alias [Arg15Ser]+[Arg15Ser] IPNMDB_678 phenoCommon GAN IPNMDB_678 commonName c.[145G>A]+[944C>T] IPNMDB_678 alias [Ala49Thr]+[Pro315Leu] IPNMDB_909 phenoCommon GAN IPNMDB_909 commonName c.[151G>C]+[151G>C] IPNMDB_909 alias [Ala51Pro]+[Ala51Pro] IPNMDB_480 phenoCommon GAN IPNMDB_480 commonName c.[154A>G]+[1179T>A] IPNMDB_480 alias [Ser52Gly]+[Cys393X] IPNMDB_903 phenoCommon GAN IPNMDB_903 commonName c.[168-1G>A]+[168-1G>A] IPNMDB_903 alias [Arg56fs]+[Arg56fs] IPNMDB_911 phenoCommon GAN IPNMDB_911 commonName c.[213T>A]+[213T>A] IPNMDB_911 alias [Tyr71X]+[Tyr71X] IPNMDB_481 phenoCommon GAN (mut. in 2nd allele unknown) IPNMDB_481 commonName c.[236C>T]+[?] IPNMDB_481 alias [Ser79Leu]+[?] IPNMDB_476 phenoCommon GAN (mut. in 2nd allele unknown) IPNMDB_476 commonName c.[244G>T]+[?] IPNMDB_476 alias [Val82Phe]+[?] IPNMDB_652 phenoCommon GAN IPNMDB_652 commonName c.[256A>T]+[340_357delCTGACGGACCTTAAAACC] IPNMDB_652 alias [Ile86Phe]+[Leul114_Thr119del] IPNMDB_902 phenoCommon GAN IPNMDB_902 commonName c.[266A>G]+[1102G>A] IPNMDB_902 alias [Tyr89Cys]+[Gly368Arg] IPNMDB_482 phenoCommon GAN IPNMDB_482 commonName c.[413G>A]+[413G>A] IPNMDB_482 alias [Arg138His]+[Arg138His] IPNMDB_906 phenoCommon GAN IPNMDB_906 commonName c.[583G>T]+[633+1G>T] IPNMDB_906 alias [Val195Phe]+[5'-splice site mutation] IPNMDB_569 phenoCommon GAN IPNMDB_569 commonName c.[601C>T]+[1268T>C] IPNMDB_569 alias [Arg201X]+[Ile423Thr] IPNMDB_649 phenoCommon GAN IPNMDB_649 commonName c.[724C>T]+[724C>T] IPNMDB_649 alias [Arg242X]+[Arg242X] IPNMDB_483 phenoCommon GAN IPNMDB_483 commonName c.806G>A IPNMDB_483 alias Arg269Gln IPNMDB_836 phenoCommon GAN IPNMDB_836 commonName c.[877C>T]+[877C>T] IPNMDB_836 alias [Arg293X]+[Arg293X] IPNMDB_479 phenoCommon GAN IPNMDB_479 commonName c.[877C>T]+[1709G>A] IPNMDB_479 alias [Arg293X]+[Cys570Tyr] IPNMDB_908 phenoCommon GAN IPNMDB_908 commonName c.[944C>T]+[1553_1554delTT] IPNMDB_908 alias [Pro315Leu]+[Phe518fs] IPNMDB_677 phenoCommon GAN IPNMDB_677 commonName c.[1086+1G>C]+[1529T>G] IPNMDB_677 alias [5'-splice site]+[Leu510X] IPNMDB_484 phenoCommon - (polymorphism) IPNMDB_484 commonName c.1086+71C>T IPNMDB_648 phenoCommon GAN IPNMDB_648 commonName c.[1102G>A]+[1102G>A] IPNMDB_648 alias [Gly368Arg]+[Gly368Arg] IPNMDB_477 phenoCommon GAN IPNMDB_477 commonName c.[1203G>A]+[1456G>A] IPNMDB_477 alias [Trp401X]+[Glu486Lys] IPNMDB_485 phenoCommon - (polymorphism) IPNMDB_485 commonName c.1293T>C IPNMDB_485 alias Tyr431Tyr IPNMDB_904 phenoCommon GAN IPNMDB_904 commonName c.[1420G>C]+[1429C>T] IPNMDB_904 alias [Gly474Arg]+[Arg477X] IPNMDB_650 phenoCommon GAN IPNMDB_650 commonName c.[1429C>T]+[1429C>T] IPNMDB_650 alias [Arg477X]+[Arg477X] IPNMDB_475 phenoCommon GAN IPNMDB_475 commonName c.[1447C>T]+[1447C>T] IPNMDB_475 alias [Gln483X]+[Gln483X] IPNMDB_473 phenoCommon GAN IPNMDB_473 commonName c.[1456G>A]+[1456G>A] IPNMDB_473 alias [Glu486Lys]+[Glu486Lys] IPNMDB_837 phenoCommon GAN IPNMDB_837 commonName c.[1502+1G>T]+[1502+1G>T] IPNMDB_837 alias 5'-splice site mutation IPNMDB_910 phenoCommon GAN IPNMDB_910 commonName c.[1505G>A]+[1505G>A] IPNMDB_910 alias [Trp502X]+[Trp502X] IPNMDB_478 phenoCommon GAN IPNMDB_478 commonName c.[1633C>T]+[1633C>T] IPNMDB_478 alias [Arg545Cys]+[Arg545Cys] IPNMDB_905 phenoCommon GAN IPNMDB_905 commonName c.[1634G>A]+[1634G>A] IPNMDB_905 alias [Arg545His]+[Arg545His] IPNMDB_676 phenoCommon GAN IPNMDB_676 commonName c.[1684C>G]+[1684C>G] IPNMDB_676 alias [Pro562Ala]+[Pro562Ala] IPNMDB_920 phenoCommon dHMN V + ptosis IPNMDB_920 commonName c.170C>T IPNMDB_920 alias Ala57Val IPNMDB_655 phenoCommon CMT2 / dHMN V IPNMDB_655 commonName c.212A>G IPNMDB_655 alias Glu71Gly IPNMDB_656 phenoCommon dHMN V IPNMDB_656 commonName c.385C>T IPNMDB_656 alias Leu129Pro IPNMDB_657 phenoCommon CMT2 IPNMDB_657 commonName c.718G>C IPNMDB_657 alias Gly240Arg IPNMDB_829 phenoCommon dHMN V IPNMDB_829 commonName c.838A>T IPNMDB_829 alias Ile280Phe IPNMDB_825 phenoCommon dHMN V IPNMDB_825 commonName c.1253A>G IPNMDB_825 alias His418Arg IPNMDB_826 phenoCommon CMT2 / dHMN IPNMDB_826 commonName c.1498G>A IPNMDB_826 alias Asp500Asn IPNMDB_658 phenoCommon dHMN V IPNMDB_658 commonName c.1576G>C IPNMDB_658 alias Gly526Arg IPNMDB_828 phenoCommon CMT2 IPNMDB_828 commonName c.1742C>T IPNMDB_828 alias Ser581Leu IPNMDB_564 phenoCommon CMT4A IPNMDB_564 commonName c.[92G>A]+[92G>A] IPNMDB_564 alias [Trp31X]+[Trp31X] IPNMDB_752 phenoCommon CMT2 IPNMDB_752 commonName c.[311-1G>A]+[389C>G] IPNMDB_752 alias [3'-splice site mutation]+[Ser130Cys] IPNMDB_671 phenoCommon CMT2 IPNMDB_671 commonName c.[341_344delAAAG]+[487C>T] IPNMDB_671 alias [Glu114fs]+[Gln163X] IPNMDB_367 phenoCommon CMT4A IPNMDB_367 commonName c.[341_344delAAAG]+[715C>T] IPNMDB_367 alias [Glu114fs]+[Leu239Phe] IPNMDB_812 phenoCommon CMT2 IPNMDB_812 commonName c.[347T>C]+[347T>C] IPNMDB_812 alias [Met116Thr]+[Met116Thr] IPNMDB_732 phenoCommon CMT4A (+pyramidal features) IPNMDB_732 commonName c.[347T>G]+[347T>G] IPNMDB_732 alias [Met116Arg]+[Met116Arg] IPNMDB_611 phenoCommon CMT4A IPNMDB_611 commonName c.[349_350insT]+[349_350insT] IPNMDB_611 alias [Tyr117fs]+[Tyr117fs] IPNMDB_672 phenoCommon CMT2 IPNMDB_672 commonName c.358C>T IPNMDB_672 alias Arg120Trp IPNMDB_368 phenoCommon CMT4A IPNMDB_368 commonName c.[358C>T]+[811G>A] IPNMDB_368 alias [Arg120Trp]+[Gly271Arg] IPNMDB_642 phenoCommon DSS + vocal cord paresis + facial weakness IPNMDB_642 commonName c.[359G>A]+[359G>A] IPNMDB_642 alias [Arg120Gln]+[Arg120Gln] IPNMDB_874 phenoCommon CMT4A IPNMDB_874 commonName c.[439delA]+[439delA] IPNMDB_874 alias [Thr147fs]+[Thr147fs] IPNMDB_734 phenoCommon CMT4A IPNMDB_734 commonName c.[445G>T]+[445G>T] IPNMDB_734 alias [Asp149Tyr]+[Asp149Tyr] IPNMDB_900 phenoCommon CMT2 + hoarseness IPNMDB_900 commonName c.[458C>T]+[458C>T] IPNMDB_900 alias [Pro153Leu]+[Pro153Leu] IPNMDB_673 phenoCommon CMT2 IPNMDB_673 commonName c.469A>C IPNMDB_673 alias Thr157Pro IPNMDB_566 phenoCommon CMT4A IPNMDB_566 commonName c.[482G>A]+[482G>A] IPNMDB_566 alias [Arg161His]+[Arg161His] IPNMDB_366 phenoCommon CMT4A IPNMDB_366 commonName c.[485-2A>G]+[485-2A>G] IPNMDB_366 alias [Ser162fsX166]+[Ser162fsX166] IPNMDB_561 phenoCommon CMT2 / DSS (+ vocal cord paresis + facial weakness) IPNMDB_561 commonName c.[487C>T]+[487C>T] IPNMDB_561 alias [Gln163X]+[Gln163X] IPNMDB_562 phenoCommon CMT2 with vocal cord paresis IPNMDB_562 commonName c.[487C>T]+[581C>G] IPNMDB_562 alias [Gln163X]+[Ser194X] IPNMDB_612 phenoCommon - (polymorphism) IPNMDB_612 commonName c.507T>G IPNMDB_612 alias Ser169Ser IPNMDB_875 phenoCommon CMT4A IPNMDB_875 commonName c.[571C>T]+[715C>T] IPNMDB_875 alias [Arg191X]+[Leu239Phe] IPNMDB_613 phenoCommon CMT4A IPNMDB_613 commonName c.[579+1G>A]+[579+1G>A] IPNMDB_613 alias [5'-splice site]+[5'-splice site] IPNMDB_674 phenoCommon CMT2 + vocal cord and diaphragm paralysis IPNMDB_674 commonName c.[558delT]+[558delT] IPNMDB_674 alias [Ile186fs]+[Ile186fs] IPNMDB_565 phenoCommon CMT4A IPNMDB_565 commonName c.[581C>G]+[581C>G] IPNMDB_565 alias [Ser194X]+[Ser194X] IPNMDB_361 phenoCommon CMT2 (+vocal cord and diaphragm paresis) IPNMDB_361 commonName c.[581C>G]+[929G>A] IPNMDB_361 alias [Ser194X]+[Arg310Gln] IPNMDB_365 phenoCommon CMT4A IPNMDB_365 commonName c.[668T>A]+[668T>A] IPNMDB_365 alias [Leu223X]+[Leu223X] IPNMDB_813 phenoCommon CMT4A IPNMDB_813 commonName c.[715C>T]+[715C>T] IPNMDB_813 alias [Leu239Phe]+[Leu239Phe] IPNMDB_609 phenoCommon CMT4A IPNMDB_609 commonName c.[786delG]+[786delG] IPNMDB_609 alias [Gly262fs]+[Gly262fs] IPNMDB_610 phenoCommon CMT4A IPNMDB_610 commonName c.[844C>T]+[844C>T] IPNMDB_610 alias [Arg282Cys]+[Arg282Cys] IPNMDB_104 phenoCommon CMT1X IPNMDB_104 commonName c.7T>C IPNMDB_104 alias Trp3Arg IPNMDB_288 commonName c.8G>A IPNMDB_288 alias Trp3X IPNMDB_105 phenoCommon CMT1X IPNMDB_105 commonName c.8G>C IPNMDB_105 alias Trp3Ser IPNMDB_466 phenoCommon CMT1X IPNMDB_466 commonName c.9G>A IPNMDB_466 alias Trp3X IPNMDB_616 phenoCommon CMT1X IPNMDB_616 commonName c.20_22delACA IPNMDB_616 alias Tyr7_Thr8delinsSer IPNMDB_106 phenoCommon CMT1X IPNMDB_106 commonName c.20A>G IPNMDB_106 alias Tyr7Cys IPNMDB_107 phenoCommon CMT1X IPNMDB_107 commonName c.22A>C IPNMDB_107 alias Thr8Pro IPNMDB_289 phenoCommon CMT1X IPNMDB_289 commonName c.26T>G IPNMDB_289 alias Leu9Trp IPNMDB_681 phenoCommon CMT1X IPNMDB_681 commonName c.27G>T IPNMDB_681 alias Leu9Phe IPNMDB_628 phenoCommon - (polymorphism) IPNMDB_628 commonName c.30C>T IPNMDB_628 alias Leu10Leu IPNMDB_108 phenoCommon CMT1X IPNMDB_108 commonName c.31A>G IPNMDB_108 alias Ser11Gly IPNMDB_109 phenoCommon CMT1X IPNMDB_109 commonName c.34G>A IPNMDB_109 alias Gly12Ser IPNMDB_290 phenoCommon - (polymorphism) IPNMDB_290 commonName c.36C>T IPNMDB_290 alias Gly12Gly IPNMDB_111 phenoCommon CMT1X IPNMDB_111 commonName c.37G>A IPNMDB_111 alias Val13Met IPNMDB_110 phenoCommon CMT1X IPNMDB_110 commonName c.37G>T IPNMDB_110 alias Val13Leu IPNMDB_378 phenoCommon unspecified CMT IPNMDB_378 commonName c.43delC IPNMDB_378 alias Arg15fs IPNMDB_114 phenoCommon CMT1X IPNMDB_114 commonName c.43C>T IPNMDB_114 alias Arg15Trp IPNMDB_113 phenoCommon CMT1X IPNMDB_113 commonName c.44G>A IPNMDB_113 alias Arg15Gln IPNMDB_115 phenoCommon CMT1X IPNMDB_115 commonName c.47A>C IPNMDB_115 alias His16Pro IPNMDB_345 phenoCommon CMT1 IPNMDB_345 commonName c.[59T>A;61G>A] IPNMDB_345 alias [Ile20Asn;Gly21Ser] IPNMDB_116 phenoCommon CMT1X IPNMDB_116 commonName c.59T>G IPNMDB_116 alias Ile20Ser IPNMDB_117 phenoCommon CMT1X IPNMDB_117 commonName c.62G>A IPNMDB_117 alias Gly21Asp IPNMDB_119 phenoCommon CMT1X IPNMDB_119 commonName c.64C>G IPNMDB_119 alias Arg22Gly IPNMDB_121 phenoCommon CMT1X IPNMDB_121 commonName c.64C>T IPNMDB_121 alias Arg22X IPNMDB_118 phenoCommon CMT1X IPNMDB_118 commonName c.65G>A IPNMDB_118 alias Arg22Gln IPNMDB_122 phenoCommon CMT1X IPNMDB_122 commonName c.[65G>A;187G>A] IPNMDB_122 alias [Arg22Gln;Val63Ile] IPNMDB_120 phenoCommon CMT1X IPNMDB_120 commonName c.65G>C IPNMDB_120 alias Arg22Pro IPNMDB_349 phenoCommon CMT1/2 IPNMDB_349 commonName c.68T>A IPNMDB_349 alias Val23Glu IPNMDB_123 phenoCommon CMT1X IPNMDB_123 commonName c.68T>C IPNMDB_123 alias Val23Ala IPNMDB_584 phenoCommon CMT1X + CNS involvement IPNMDB_584 commonName c.72G>T IPNMDB_584 alias Trp24Cys IPNMDB_124 phenoCommon CMT1X IPNMDB_124 commonName c.73C>T IPNMDB_124 alias Leu25Phe IPNMDB_532 phenoCommon CMT1 IPNMDB_532 commonName c.74T>C IPNMDB_532 alias Leu25Pro IPNMDB_126 phenoCommon CMT1X IPNMDB_126 commonName c.77C>A IPNMDB_126 alias Ser26X IPNMDB_491 phenoCommon CMT1X IPNMDB_491 commonName c.77C>G IPNMDB_491 alias Ser26Trp IPNMDB_125 phenoCommon CMT1X IPNMDB_125 commonName c.77C>T IPNMDB_125 alias Ser26Leu IPNMDB_127 phenoCommon CMT1X IPNMDB_127 commonName c.83T>A IPNMDB_127 alias Ile28Asn IPNMDB_128 phenoCommon CMT1X IPNMDB_128 commonName c.83T>C IPNMDB_128 alias Ile28Thr IPNMDB_130 phenoCommon CMT1X IPNMDB_130 commonName c.85T>C IPNMDB_130 alias Phe29Leu IPNMDB_292 commonName c.88A>T IPNMDB_292 alias Ile30Phe IPNMDB_131 phenoCommon CMT1X IPNMDB_131 commonName c.89T>A IPNMDB_131 alias Ile30Asn IPNMDB_293 phenoCommon CMT1X IPNMDB_293 commonName c.89T>C IPNMDB_293 alias Ile30Thr IPNMDB_291 commonName c.90C>G IPNMDB_291 alias Ile30Met IPNMDB_129 phenoCommon CMT1X IPNMDB_129 commonName c.94_95insTCTTCA IPNMDB_129 alias Phe31_Arg32insIlePhe IPNMDB_133 phenoCommon CMT1X IPNMDB_133 commonName c.100A>G IPNMDB_133 alias Met34Val IPNMDB_344 phenoCommon CMT1/2 IPNMDB_344 commonName c.101T>A IPNMDB_344 alias Met34Lys IPNMDB_132 phenoCommon CMT1X IPNMDB_132 commonName c.101T>C IPNMDB_132 alias Met34Thr IPNMDB_294 commonName c.102G>A IPNMDB_294 alias Met34Ile IPNMDB_134 phenoCommon CMT1X IPNMDB_134 commonName c.103G>A IPNMDB_134 alias Val35Met IPNMDB_135 phenoCommon CMT1X IPNMDB_135 commonName c.109G>A IPNMDB_135 alias Val37Met IPNMDB_136 phenoCommon CMT1X IPNMDB_136 commonName c.112G>A IPNMDB_136 alias Val38Met IPNMDB_742 phenoCommon CMT1X + hearing loss IPNMDB_742 commonName c.113T>C IPNMDB_742 alias Val38Ala IPNMDB_738 phenoCommon CMT1X IPNMDB_738 commonName c.114_115insC IPNMDB_738 alias Ala39fs IPNMDB_137 phenoCommon CMT1X IPNMDB_137 commonName c.115G>C IPNMDB_137 alias Ala39Pro IPNMDB_925 phenoCommon CMT IPNMDB_925 commonName c.115delG IPNMDB_925 alias Ala39fs IPNMDB_138 phenoCommon CMT1X (+ CNS involvement) IPNMDB_138 commonName c.116C>T IPNMDB_138 alias Ala39Val IPNMDB_739 phenoCommon CMT1X IPNMDB_739 commonName c.118G>A IPNMDB_739 alias Ala40Thr IPNMDB_139 phenoCommon CMT1X IPNMDB_139 commonName c.119C>T IPNMDB_139 alias Ala40Val IPNMDB_140 phenoCommon CMT1X IPNMDB_140 commonName c.121G>A IPNMDB_140 alias Glu41Lys IPNMDB_833 phenoCommon CMT1X + CNS involvement IPNMDB_833 commonName c.123G>C IPNMDB_833 alias Glu41Asp IPNMDB_141 phenoCommon CMT1X IPNMDB_141 commonName c.124delA IPNMDB_141 alias Ser42fs IPNMDB_142 phenoCommon CMT1X IPNMDB_142 commonName c.127G>A IPNMDB_142 alias Val43Met IPNMDB_295 commonName c.131G>A IPNMDB_295 alias Trp44X IPNMDB_143 phenoCommon CMT1X IPNMDB_143 commonName c.131G>T IPNMDB_143 alias Trp44Leu IPNMDB_438 phenoCommon CMT1X IPNMDB_438 commonName c.132G>A IPNMDB_438 alias Trp44X IPNMDB_917 phenoCommon CMT1 IPNMDB_917 commonName c.137A>G IPNMDB_917 alias Asp46Gly IPNMDB_880 phenoCommon CMT1 IPNMDB_880 commonName c.140A>G IPNMDB_880 alias Glu47Gly IPNMDB_577 phenoCommon CMT1X IPNMDB_577 commonName c.145T>C IPNMDB_577 alias Ser49Pro IPNMDB_144 phenoCommon CMT2 IPNMDB_144 commonName c.146C>A IPNMDB_144 alias Ser49Tyr IPNMDB_145 phenoCommon CMT1X IPNMDB_145 commonName c.148T>C IPNMDB_145 alias Ser50Pro IPNMDB_296 commonName c.153C>A IPNMDB_296 alias Phe51Leu IPNMDB_146 phenoCommon CMT1X IPNMDB_146 commonName c.158G>C IPNMDB_146 alias Cys53Ser IPNMDB_685 phenoCommon CMT IPNMDB_685 commonName c.163A>G IPNMDB_685 alias Thr55Ala IPNMDB_579 phenoCommon CMT1X + CNS involvement IPNMDB_579 commonName c.164C>G IPNMDB_579 alias Thr55Arg IPNMDB_147 phenoCommon CMT1X IPNMDB_147 commonName c.164C>T IPNMDB_147 alias Thr55Ile IPNMDB_148 phenoCommon CMT1X IPNMDB_148 commonName c.166C>T IPNMDB_148 alias Leu56Phe IPNMDB_149 phenoCommon CMT1X IPNMDB_149 commonName c.171G>C IPNMDB_149 alias Gln57His IPNMDB_150 phenoCommon CMT1X IPNMDB_150 commonName c.173C>G IPNMDB_150 alias Pro58Arg IPNMDB_297 phenoCommon CMT1X IPNMDB_297 commonName c.175G>C IPNMDB_297 alias Gly59Arg IPNMDB_151 phenoCommon CMT1X IPNMDB_151 commonName c.175G>T IPNMDB_151 alias Gly59Cys IPNMDB_299 commonName c.178T>A IPNMDB_299 alias Cys60Ser IPNMDB_298 commonName c.178T>C IPNMDB_298 alias Cys60Arg IPNMDB_152 phenoCommon CMT1X IPNMDB_152 commonName c.179G>T IPNMDB_152 alias Cys60Phe IPNMDB_572 phenoCommon CMT1X (+ CNS involvement) IPNMDB_572 commonName c.184_185insCACTCCAGCCTGGCTGCAACA IPNMDB_572 alias Asn61_Ser62insTyrLeuGlnProGlyCysAsn IPNMDB_153 phenoCommon CMT1X (+ deafness) IPNMDB_153 commonName c.187G>A IPNMDB_153 alias Val63Ile IPNMDB_154 phenoCommon CMT1X IPNMDB_154 commonName c.191G>C IPNMDB_154 alias Cys64Ser IPNMDB_492 phenoCommon CMT1X IPNMDB_492 commonName c.191G>T IPNMDB_492 alias Cys64Phe IPNMDB_465 phenoCommon CMT1X IPNMDB_465 commonName c.193T>C IPNMDB_465 alias Tyr65His IPNMDB_155 phenoCommon CMT1X IPNMDB_155 commonName c.194A>G IPNMDB_155 alias Tyr65Cys IPNMDB_156 phenoCommon CMT1X IPNMDB_156 commonName c.196_198delGAC IPNMDB_156 alias Asp66del IPNMDB_300 phenoCommon CMT2 IPNMDB_300 commonName c.205T>C IPNMDB_300 alias Phe69Leu IPNMDB_301 phenoCommon CMT1X IPNMDB_301 commonName c.208C>G IPNMDB_301 alias Pro70Ala IPNMDB_302 commonName c.208C>T IPNMDB_302 alias Pro70Ser IPNMDB_157 phenoCommon CMT1X IPNMDB_157 commonName c.210_211insC IPNMDB_157 alias Ile71fs IPNMDB_303 commonName c.215C>T IPNMDB_303 alias Ser72Phe IPNMDB_158 phenoCommon CMT1X IPNMDB_158 commonName c.217delC IPNMDB_158 alias His73fs IPNMDB_161 phenoCommon CMT1X / CMT2 (+CNS involvement) IPNMDB_161 commonName c.223C>T IPNMDB_161 alias Arg75Trp IPNMDB_159 phenoCommon CMT1X IPNMDB_159 commonName c.224G>A IPNMDB_159 alias Arg75Gln IPNMDB_160 phenoCommon CMT1X IPNMDB_160 commonName c.224G>C IPNMDB_160 alias Arg75Pro IPNMDB_162 phenoCommon CMT1X IPNMDB_162 commonName c.230G>C IPNMDB_162 alias Trp77Ser IPNMDB_304 commonName c.230G>T IPNMDB_304 alias Trp77Leu IPNMDB_163 phenoCommon CMT1X IPNMDB_163 commonName c.231G>A IPNMDB_163 alias Trp77X IPNMDB_279 phenoCommon - (polymorphism) IPNMDB_279 commonName c.235C>T IPNMDB_279 alias Leu79Leu IPNMDB_165 phenoCommon CMT1X IPNMDB_165 commonName c.238C>T IPNMDB_165 alias Gln80X IPNMDB_164 phenoCommon CMT1X IPNMDB_164 commonName c.239A>G IPNMDB_164 alias Gln80Arg IPNMDB_166 phenoCommon CMT1X IPNMDB_166 commonName c.241C>T IPNMDB_166 alias Leu81Phe IPNMDB_305 commonName c.242T>A IPNMDB_305 alias Leu81His IPNMDB_167 phenoCommon CMT1X IPNMDB_167 commonName c.248T>C IPNMDB_167 alias Leu83Pro IPNMDB_467 phenoCommon CMT1/2 IPNMDB_467 commonName c.248T>G IPNMDB_467 alias Leu83Arg IPNMDB_168 phenoCommon CMT1X IPNMDB_168 commonName c.250G>A IPNMDB_168 alias Val84Ile IPNMDB_169 phenoCommon CMT1X IPNMDB_169 commonName c.254C>G IPNMDB_169 alias Ser85Cys IPNMDB_170 phenoCommon CMT1X IPNMDB_170 commonName c.254C>T IPNMDB_170 alias Ser85Phe IPNMDB_171 phenoCommon CMT1X IPNMDB_171 commonName c.256A>G IPNMDB_171 alias Thr86Ala IPNMDB_173 phenoCommon CMT1X IPNMDB_173 commonName c.256A>T IPNMDB_173 alias Thr86Ser IPNMDB_172 phenoCommon CMT1X IPNMDB_172 commonName c.257C>A IPNMDB_172 alias Thr86Asn IPNMDB_174 phenoCommon CMT1X IPNMDB_174 commonName c.259C>G IPNMDB_174 alias Pro87Ala IPNMDB_176 phenoCommon CMT1X IPNMDB_176 commonName c.259C>T IPNMDB_176 alias Pro87Ser IPNMDB_175 phenoCommon CMT1X IPNMDB_175 commonName c.260C>T IPNMDB_175 alias Pro87Leu IPNMDB_306 commonName c.265C>G IPNMDB_306 alias Leu89Val IPNMDB_177 phenoCommon CMT1X IPNMDB_177 commonName c.266T>C IPNMDB_177 alias Leu89Pro IPNMDB_346 phenoCommon CMT1/2 IPNMDB_346 commonName c.268C>G IPNMDB_346 alias Leu90Val IPNMDB_178 phenoCommon CMT1X IPNMDB_178 commonName c.269T>A IPNMDB_178 alias Leu90His IPNMDB_308 phenoCommon CMT1X IPNMDB_308 commonName c.271G>A IPNMDB_308 alias Val91Met IPNMDB_307 commonName c.272T>C IPNMDB_307 alias Val91Ala IPNMDB_179 phenoCommon CMT1X IPNMDB_179 commonName c.273_274delGG IPNMDB_179 alias Val91fs IPNMDB_180 phenoCommon CMT1X IPNMDB_180 commonName c.275_276delCC IPNMDB_180 alias Ala92fs IPNMDB_181 phenoCommon CMT1X IPNMDB_181 commonName c.277A>G IPNMDB_181 alias Met93Val IPNMDB_688 phenoCommon CMT1/2 IPNMDB_688 commonName c.280C>G IPNMDB_688 alias His94Asp IPNMDB_183 phenoCommon CMT1X IPNMDB_183 commonName c.280C>T IPNMDB_183 alias His94Tyr IPNMDB_182 phenoCommon CMT1X IPNMDB_182 commonName c.282C>A IPNMDB_182 alias His94Gln IPNMDB_350 phenoCommon CMT1 IPNMDB_350 commonName c.282C>G IPNMDB_350 alias His94Gln IPNMDB_184 phenoCommon CMT1X IPNMDB_184 commonName c.283G>A IPNMDB_184 alias Val95Met IPNMDB_309 commonName c.287C>T IPNMDB_309 alias Ala96Val IPNMDB_185 phenoCommon CMT1X IPNMDB_185 commonName c.298C>T IPNMDB_185 alias His100Tyr IPNMDB_187 phenoCommon CMT1X IPNMDB_187 commonName c.304G>T IPNMDB_187 alias Glu102X IPNMDB_186 phenoCommon CMT1X IPNMDB_186 commonName c.305A>G IPNMDB_186 alias Glu102Gly IPNMDB_556 phenoCommon CMT1 + white matter lesions IPNMDB_556 commonName c.304_306delGAG IPNMDB_556 alias Glu102del IPNMDB_188 phenoCommon CMT1X IPNMDB_188 commonName c.307A>G IPNMDB_188 alias Lys103Glu IPNMDB_189 phenoCommon CMT1X IPNMDB_189 commonName c.311A>C IPNMDB_189 alias Lys104Thr IPNMDB_190 phenoCommon CMT1X IPNMDB_190 commonName c.313delA IPNMDB_190 alias Met105fs IPNMDB_310 phenoCommon - (polymorphism) IPNMDB_310 commonName c.318A>G IPNMDB_310 alias Leu106Leu IPNMDB_191 phenoCommon CMT1X IPNMDB_191 commonName c.319C>T IPNMDB_191 alias Arg107Trp IPNMDB_568 phenoCommon CMT2 IPNMDB_568 commonName c.323T>C IPNMDB_568 alias Leu108Pro IPNMDB_580 phenoCommon CMT1X + CNS involvement IPNMDB_580 commonName c.324_325insT IPNMDB_580 alias Glu109X IPNMDB_408 phenoCommon CMT1X IPNMDB_408 commonName c.329G>A IPNMDB_408 alias Gly110Asp IPNMDB_192 phenoCommon CMT1X IPNMDB_192 commonName c.332_349delATGGGGACCCCCTACACC IPNMDB_192 alias His111_His116del IPNMDB_422 phenoCommon CMT1X IPNMDB_422 commonName c.338_345delACCCCCTA insTGGC IPNMDB_422 alias Asp113fs IPNMDB_629 phenoCommon CMT1 IPNMDB_629 commonName c.358_360delGTG IPNMDB_629 alias Val120del IPNMDB_193 phenoCommon CMT1X (+ CNS involvement) IPNMDB_193 commonName c.359T>A IPNMDB_193 alias Val120Glu IPNMDB_195 phenoCommon CMT1X IPNMDB_195 commonName c.371delA IPNMDB_195 alias Lys124fs IPNMDB_194 phenoCommon CMT1X IPNMDB_194 commonName c.372G>C IPNMDB_194 alias Lys124Asn IPNMDB_581 phenoCommon CMT1X IPNMDB_581 commonName c.374T>A IPNMDB_581 alias Val125Asp IPNMDB_682 phenoCommon CMT IPNMDB_682 commonName c.380T>G IPNMDB_682 alias Ile127Ser IPNMDB_311 phenoCommon CMT1X IPNMDB_311 commonName c.381C>G IPNMDB_311 alias Ile127Met IPNMDB_196 phenoCommon CMT1X IPNMDB_196 commonName c.382T>C IPNMDB_196 alias Ser128Pro IPNMDB_441 phenoCommon CMT1 IPNMDB_441 commonName c.383C>G IPNMDB_441 alias Ser128X IPNMDB_689 phenoCommon CMT1/2 IPNMDB_689 commonName c.389C>T IPNMDB_689 alias Thr130Ile IPNMDB_313 phenoCommon CMT1X (+CNS involvement) IPNMDB_313 commonName c.392T>C IPNMDB_313 alias Leu131Pro IPNMDB_312 phenoCommon - (polymorphism) IPNMDB_312 commonName c.393G>A IPNMDB_312 alias Leu131Leu IPNMDB_198 phenoCommon CMT1X IPNMDB_198 commonName c.394_395delTG IPNMDB_198 alias Trp132fs IPNMDB_494 phenoCommon CMT1X IPNMDB_494 commonName c.396G>A IPNMDB_494 alias Trp132X IPNMDB_199 phenoCommon CMT1X IPNMDB_199 commonName c.397T>C IPNMDB_199 alias Trp133Arg IPNMDB_201 phenoCommon CMT1X IPNMDB_201 commonName c.399G>A IPNMDB_201 alias Trp133X IPNMDB_200 phenoCommon CMT1X IPNMDB_200 commonName c.399G>T IPNMDB_200 alias Trp133Cys IPNMDB_314 commonName c.401C>A IPNMDB_314 alias Thr134Asn IPNMDB_202 phenoCommon CMT1X IPNMDB_202 commonName c.404A>G IPNMDB_202 alias Tyr135Cys IPNMDB_725 phenoCommon DSS IPNMDB_725 commonName GJB1:c.[407T>C]+EGR2:c.[1075C>T] IPNMDB_725 alias GJB1:[Val136Ala]+EGR2:[Arg359Trp] IPNMDB_725 comment digenic IPNMDB_203 phenoCommon CMT1X IPNMDB_203 commonName c.410delT IPNMDB_203 alias Ile137fs IPNMDB_315 commonName c.412A>G IPNMDB_315 alias Ser138Gly IPNMDB_617 phenoCommon CMT1X / CMT2 IPNMDB_617 commonName c.413G>A IPNMDB_617 alias Ser138Asn IPNMDB_204 phenoCommon CMT1X IPNMDB_204 commonName c.415G>A IPNMDB_204 alias Val139Met IPNMDB_856 phenoCommon CMT1X IPNMDB_856 commonName c.419T>A IPNMDB_856 alias Val 140Glu IPNMDB_205 phenoCommon CMT1X IPNMDB_205 commonName c.423C>G IPNMDB_205 alias Phe141Leu IPNMDB_206 phenoCommon CMT1X (+ CNS involvement) IPNMDB_206 commonName c.424C>T IPNMDB_206 alias Arg142Trp IPNMDB_207 phenoCommon CMT1X (+ deafness) IPNMDB_207 commonName c.425G>A IPNMDB_207 alias Arg142Gln IPNMDB_857 phenoCommon CMT1X IPNMDB_857 commonName c.428T>C IPNMDB_857 alias Leu143Pro IPNMDB_208 phenoCommon CMT1X IPNMDB_208 commonName c.432_434delGTT IPNMDB_208 alias Leu144del IPNMDB_630 phenoCommon CMT1 IPNMDB_630 commonName c.436G>A IPNMDB_630 alias Glu146Lys IPNMDB_209 phenoCommon CMT1X IPNMDB_209 commonName c.439delG IPNMDB_209 alias Ala147fs IPNMDB_631 phenoCommon CMT1 IPNMDB_631 commonName c.440C>A IPNMDB_631 alias Ala147Asp IPNMDB_316 phenoCommon - (polymorphism) IPNMDB_316 commonName c.441C>T IPNMDB_316 alias Ala147Ala IPNMDB_210 phenoCommon CMT1X IPNMDB_210 commonName c.445T>A IPNMDB_210 alias Phe149Ile IPNMDB_211 phenoCommon CMT1X IPNMDB_211 commonName c.445T>G IPNMDB_211 alias Phe149Val IPNMDB_915 phenoCommon CMT1 IPNMDB_915 commonName c.451T>C IPNMDB_915 alias Tyr151His IPNMDB_351 phenoCommon CMT1/2 IPNMDB_351 commonName c.452A>C IPNMDB_351 alias Tyr151Ser IPNMDB_409 phenoCommon CMT1X IPNMDB_409 commonName c.455T>A IPNMDB_409 alias Val152Asp IPNMDB_582 phenoCommon CMT1X IPNMDB_582 commonName c.458T>C IPNMDB_582 alias Phe153Ser IPNMDB_881 phenoCommon CMT1 IPNMDB_881 commonName c.459_460delTT IPNMDB_881 alias Phe153fs IPNMDB_212 phenoCommon CMT1X IPNMDB_212 commonName c.462T>A IPNMDB_212 alias Tyr154X IPNMDB_858 phenoCommon CMT1X IPNMDB_858 commonName c.466_475delCTCTACCCTG IPNMDB_858 alias Leu156fs IPNMDB_214 phenoCommon CMT1X IPNMDB_214 commonName c.466C>T IPNMDB_214 alias Leu156Phe IPNMDB_213 phenoCommon CMT1X IPNMDB_213 commonName c.467T>G IPNMDB_213 alias Leu156Arg IPNMDB_215 phenoCommon CMT1X IPNMDB_215 commonName c.470A>G IPNMDB_215 alias Tyr157Cys IPNMDB_216 phenoCommon CMT1X IPNMDB_216 commonName c.472C>G IPNMDB_216 alias Pro158Ala IPNMDB_218 phenoCommon CMT1X IPNMDB_218 commonName c.472C>T IPNMDB_218 alias Pro158Ser IPNMDB_217 phenoCommon CMT1X IPNMDB_217 commonName c.473C>G IPNMDB_217 alias Pro158Arg IPNMDB_317 commonName c.473C>T IPNMDB_317 alias Pro158Leu IPNMDB_318 phenoCommon CMT1X IPNMDB_318 commonName c.474delT IPNMDB_318 alias Pro158fs IPNMDB_219 phenoCommon CMT1X IPNMDB_219 commonName c.475G>A IPNMDB_219 alias Gly159Ser IPNMDB_558 phenoCommon unspecified CMT IPNMDB_558 commonName c.476G>A IPNMDB_558 alias Gly159Asp IPNMDB_220 phenoCommon CMT1X IPNMDB_220 commonName c.478T>C IPNMDB_220 alias Tyr160His IPNMDB_221 phenoCommon CMT1X IPNMDB_221 commonName c.481G>C IPNMDB_221 alias Ala161Pro IPNMDB_319 phenoCommon - (polymorphism) IPNMDB_319 commonName c.483C>T IPNMDB_319 alias Ala161Ala IPNMDB_223 phenoCommon CMT1X (+ transient CNS involvement) IPNMDB_223 commonName c.490C>T IPNMDB_223 alias Arg164Trp IPNMDB_222 phenoCommon CMT1X (+ CNS involvement), CMT2 IPNMDB_222 commonName c.491G>A IPNMDB_222 alias Arg164Gln IPNMDB_410 phenoCommon CMT1X IPNMDB_410 commonName c.499A>G IPNMDB_410 alias Lys167Glu IPNMDB_726 phenoCommon CMT1 IPNMDB_726 commonName c.502T>C IPNMDB_726 alias Cys168Arg IPNMDB_320 phenoCommon CMT1X + transient CNS involvement IPNMDB_320 commonName c.503G>A IPNMDB_320 alias Cys168Tyr IPNMDB_321 commonName c.504C>A IPNMDB_321 alias Cys168X IPNMDB_322 phenoCommon - (polymorphism) IPNMDB_322 commonName c.507C>T IPNMDB_322 alias Asp169Asp IPNMDB_618 phenoCommon CMT1X / CMT2 IPNMDB_618 commonName c.514C>G IPNMDB_618 alias Pro172Ala IPNMDB_225 phenoCommon CMT1X IPNMDB_225 commonName c.514C>T IPNMDB_225 alias Pro172Ser IPNMDB_323 phenoCommon CMT1X IPNMDB_323 commonName c.515C>G IPNMDB_323 alias Pro172Arg IPNMDB_224 phenoCommon CMT1X IPNMDB_224 commonName c.515C>T IPNMDB_224 alias Pro172Leu IPNMDB_226 phenoCommon CMT1X IPNMDB_226 commonName c.517T>C IPNMDB_226 alias Cys173Arg IPNMDB_468 commonName c.518G>A IPNMDB_468 alias Cys173Tyr IPNMDB_227 phenoCommon CMT1X IPNMDB_227 commonName c.523A>G IPNMDB_227 alias Asn175Asp IPNMDB_228 phenoCommon CMT1X IPNMDB_228 commonName c.524_525insA IPNMDB_228 alias Asn175fs IPNMDB_469 phenoCommon CMT1X IPNMDB_469 commonName c.526A>C IPNMDB_469 alias Thr176Pro IPNMDB_229 phenoCommon CMT1X IPNMDB_229 commonName c.530T>A IPNMDB_229 alias Val177Glu IPNMDB_230 phenoCommon CMT1X IPNMDB_230 commonName c.530T>C IPNMDB_230 alias Val177Ala IPNMDB_231 phenoCommon CMT1X IPNMDB_231 commonName c.532G>T IPNMDB_231 alias Asp178Tyr IPNMDB_232 phenoCommon CMT1X IPNMDB_232 commonName c.535T>C IPNMDB_232 alias Cys179Arg IPNMDB_882 phenoCommon unspecified CMT IPNMDB_882 commonName c.536G>A IPNMDB_882 alias Cys179Tyr IPNMDB_916 phenoCommon CMT1 IPNMDB_916 commonName c.538T>C IPNMDB_916 alias Phe180Leu IPNMDB_324 phenoCommon CMT1X IPNMDB_324 commonName c.539T>C IPNMDB_324 alias Phe180Ser IPNMDB_233 phenoCommon CMT1X IPNMDB_233 commonName c.540C>G IPNMDB_233 alias Phe180Leu IPNMDB_234 phenoCommon CMT1X IPNMDB_234 commonName c.541G>A IPNMDB_234 alias Val181Met IPNMDB_740 phenoCommon CMT1X IPNMDB_740 commonName c.542T>C IPNMDB_740 alias Val181Ala IPNMDB_235 phenoCommon CMT1X IPNMDB_235 commonName c.544T>A IPNMDB_235 alias Ser182Thr IPNMDB_238 phenoCommon CMT1X IPNMDB_238 commonName c.547C>A IPNMDB_238 alias Arg183Ser IPNMDB_236 phenoCommon CMT1X IPNMDB_236 commonName c.547C>T IPNMDB_236 alias Arg183Cys IPNMDB_237 phenoCommon CMT1X IPNMDB_237 commonName c.548G>A IPNMDB_237 alias Arg183His IPNMDB_239 phenoCommon CMT1X IPNMDB_239 commonName c.551C>G IPNMDB_239 alias Pro184Arg IPNMDB_352 phenoCommon CMT1/2 IPNMDB_352 commonName c.551C>T IPNMDB_352 alias Pro184Leu IPNMDB_240 phenoCommon CMT1X IPNMDB_240 commonName c.553_555delACC IPNMDB_240 alias Thr185del IPNMDB_241 phenoCommon CMT1X (+ deafness) IPNMDB_241 commonName c.556G>A IPNMDB_241 alias Glu186Lys IPNMDB_242 phenoCommon CMT1X IPNMDB_242 commonName c.556G>T IPNMDB_242 alias Glu186X IPNMDB_243 phenoCommon CMT1X IPNMDB_243 commonName c.556_557insG IPNMDB_243 alias Glu186fs IPNMDB_244 phenoCommon CMT1X IPNMDB_244 commonName c.559A>G IPNMDB_244 alias Lys187Glu IPNMDB_845 phenoCommon CMT1X IPNMDB_845 commonName c.561_569insAACCGTCTT IPNMDB_845 alias Val189_Phe190insLeuThrVal IPNMDB_325 phenoCommon CMT1X IPNMDB_325 commonName c.562A>G IPNMDB_325 alias Thr188Ala IPNMDB_246 phenoCommon CMT1X IPNMDB_246 commonName c.565G>A IPNMDB_246 alias Val189Ile IPNMDB_245 phenoCommon CMT1X IPNMDB_245 commonName c.566T>G IPNMDB_245 alias Val189Gly IPNMDB_486 phenoCommon CMT1X IPNMDB_486 commonName c.571A>G IPNMDB_486 alias Thr191Ala IPNMDB_834 phenoCommon CMT1X IPNMDB_834 commonName c.571_579dupACCGTCTTC IPNMDB_834 alias Thr191_Phe193dup IPNMDB_741 phenoCommon CMT1X IPNMDB_741 commonName c.572_580delCCGTCTTCA IPNMDB_741 alias Thr191_Phe193del IPNMDB_326 phenoCommon CMT1X IPNMDB_326 commonName c.574G>T IPNMDB_326 alias Val192Phe IPNMDB_249 phenoCommon CMT1X IPNMDB_249 commonName c.578T>G IPNMDB_249 alias Phe193Cys IPNMDB_347 phenoCommon CMT1 IPNMDB_347 commonName c.579C>G IPNMDB_347 alias Phe193Leu IPNMDB_250 phenoCommon CMT1X IPNMDB_250 commonName c.580A>G IPNMDB_250 alias Met194Val IPNMDB_251 phenoCommon CMT1X IPNMDB_251 commonName c.593C>T IPNMDB_251 alias Ser198Phe IPNMDB_727 phenoCommon - (polymorphism) IPNMDB_727 commonName c.594T>A IPNMDB_727 alias Ser198Ser IPNMDB_252 phenoCommon CMT1X IPNMDB_252 commonName c.595G>C IPNMDB_252 alias Gly199Arg IPNMDB_253 phenoCommon CMT1X IPNMDB_253 commonName c.601T>C IPNMDB_253 alias Cys201Arg IPNMDB_686 phenoCommon CMT1/2 IPNMDB_686 commonName c.602G>A IPNMDB_686 alias Cys201Tyr IPNMDB_883 phenoCommon CMT1 IPNMDB_883 commonName c.602G>T IPNMDB_883 alias Cys201Phe IPNMDB_254 phenoCommon CMT1X IPNMDB_254 commonName c.608T>A IPNMDB_254 alias Ile203Asn IPNMDB_255 phenoCommon CMT1X IPNMDB_255 commonName c.610C>G IPNMDB_255 alias Leu204Val IPNMDB_256 phenoCommon CMT1X IPNMDB_256 commonName c.610C>T IPNMDB_256 alias Leu204Phe IPNMDB_257 phenoCommon CMT1X (+ CNS involvement) IPNMDB_257 commonName c.614A>G IPNMDB_257 alias Asn205Ser IPNMDB_327 phenoCommon CMT2 + deafness IPNMDB_327 commonName c.614A>T IPNMDB_327 alias Asn205Ile IPNMDB_328 phenoCommon CMT1X IPNMDB_328 commonName c.617_618insT IPNMDB_328 alias Val206fs IPNMDB_258 phenoCommon CMT1X IPNMDB_258 commonName c.622G>A IPNMDB_258 alias Glu208Lys IPNMDB_533 phenoCommon CMT1X IPNMDB_533 commonName c.623A>G IPNMDB_533 alias Glu208Gly IPNMDB_632 phenoCommon CMT1 IPNMDB_632 commonName c.628_630delGTG IPNMDB_632 alias Val210del IPNMDB_507 phenoCommon CMT1 IPNMDB_507 commonName c.631T>C IPNMDB_507 alias Tyr211His IPNMDB_259 phenoCommon CMT1X IPNMDB_259 commonName c.633C>A IPNMDB_259 alias Tyr211X IPNMDB_884 phenoCommon CMT1 IPNMDB_884 commonName c.633delC IPNMDB_884 alias Leu212fs IPNMDB_680 phenoCommon CMT IPNMDB_680 commonName c.634C>T IPNMDB_680 alias Leu212Phe IPNMDB_260 phenoCommon CMT1X IPNMDB_260 commonName c.637_640delATCAinsC IPNMDB_260 alias Ile213_Ile214delinsLeu IPNMDB_329 commonName c.637A>G IPNMDB_329 alias Ile213Val IPNMDB_879 phenoCommon CMT1/2 IPNMDB_879 commonName c.641T>A IPNMDB_879 alias Ile214Asn IPNMDB_261 phenoCommon CMT1X IPNMDB_261 commonName c.643C>T IPNMDB_261 alias Arg215Trp IPNMDB_262 phenoCommon CMT1X IPNMDB_262 commonName c.651T>A IPNMDB_262 alias Cys217X IPNMDB_263 phenoCommon CMT1X IPNMDB_263 commonName c.655C>T IPNMDB_263 alias Arg219Cys IPNMDB_264 phenoCommon CMT1X IPNMDB_264 commonName c.656G>A IPNMDB_264 alias Arg219His IPNMDB_265 phenoCommon CMT1X IPNMDB_265 commonName c.658C>G IPNMDB_265 alias Arg220Gly IPNMDB_266 phenoCommon CMT1X IPNMDB_266 commonName c.658C>T IPNMDB_266 alias Arg220X IPNMDB_267 phenoCommon CMT1X IPNMDB_267 commonName c.688C>T IPNMDB_267 alias Arg230Cys IPNMDB_268 phenoCommon CMT1X IPNMDB_268 commonName c.689G>T IPNMDB_268 alias Arg230Leu IPNMDB_269 phenoCommon CMT1X (severe) IPNMDB_269 commonName c.704T>G IPNMDB_269 alias Phe235Cys IPNMDB_270 phenoCommon CMT1X IPNMDB_270 commonName c.713G>A IPNMDB_270 alias Arg238His IPNMDB_330 phenoCommon CMT1X IPNMDB_330 commonName c.715C>A IPNMDB_330 alias Leu239Ile IPNMDB_271 phenoCommon CMT1X IPNMDB_271 commonName c.761_762insA IPNMDB_271 alias Glu254fs IPNMDB_633 phenoCommon CMT2 IPNMDB_633 commonName c.790C>T IPNMDB_633 alias Arg264Cys IPNMDB_272 phenoCommon CMT1X IPNMDB_272 commonName c.793_821del29 IPNMDB_272 alias Arg265fs IPNMDB_423 phenoCommon CMT1X IPNMDB_423 commonName c.838T>G IPNMDB_423 alias Cys280Gly IPNMDB_275 phenoCommon CMT1X IPNMDB_275 commonName c.841_845delTCGGC IPNMDB_275 alias Ser281fs IPNMDB_274 phenoCommon CMT1X IPNMDB_274 commonName c.842C>A IPNMDB_274 alias Ser281X IPNMDB_864 phenoCommon HSAN II IPNMDB_864 commonName c.[217C>T]+[1134_1135insT] IPNMDB_864 alias [Gln73X]+[Asp379fs] IPNMDB_807 phenoCommon HSN II IPNMDB_807 commonName c.[254delC]+[1089_1090insT] IPNMDB_807 alias [Pro85fs]+[Gln364fs] IPNMDB_808 phenoCommon HSN II IPNMDB_808 commonName c.[550C>T]+[550C>T] IPNMDB_808 alias [Gln184X]+[Gln184X] IPNMDB_392 phenoCommon HSN II IPNMDB_392 commonName c.[594delA]+[594delA] IPNMDB_392 alias [Glu198fs]+[Glu198fs] IPNMDB_747 phenoCommon HSN II IPNMDB_747 commonName c.[868C>T]+[868C>T] IPNMDB_747 alias [Arg290X]+[Arg290X] IPNMDB_393 phenoCommon HSN II IPNMDB_393 commonName c.[918_919insA]+[918_919insA] IPNMDB_393 alias [Ser307fs]+[Ser307fs] IPNMDB_395 phenoCommon HSN II IPNMDB_395 commonName c.[918_919insA]+[943C>T] IPNMDB_395 alias [Ser307fs]+[Gln315X] IPNMDB_394 phenoCommon HSN II IPNMDB_394 commonName c.[943C>T]+[943C>T] IPNMDB_394 alias [Gln315X]+[Gln315X] IPNMDB_746 phenoCommon HSN II IPNMDB_746 commonName c.[947delC]+[947delC] IPNMDB_746 alias [Pro316fs]+[Pro316fs] IPNMDB_809 phenoCommon HSN II IPNMDB_809 commonName c.[1064_1065delTC]+[1064_1065delTC] IPNMDB_809 alias [Ile355fs]+[Ile355fs] IPNMDB_810 phenoCommon HSN II IPNMDB_810 commonName c.[1134_1135insT]+[1134_1135insT] IPNMDB_810 alias [Asp379fs]+[Asp379fs] IPNMDB_400 phenoCommon dHMN CMT2 IPNMDB_400 commonName c.379C>T IPNMDB_400 alias Arg127Trp IPNMDB_401 phenoCommon CMT2 / dHMN IPNMDB_401 commonName c.404C>T IPNMDB_401 alias Ser135Phe IPNMDB_402 phenoCommon CMT2 IPNMDB_402 commonName c.406C>T IPNMDB_402 alias Arg136Trp IPNMDB_403 phenoCommon dHMN IPNMDB_403 commonName c.452C>T IPNMDB_403 alias Thr151Ile IPNMDB_847 phenoCommon dHMN IPNMDB_847 commonName c.544C>T IPNMDB_847 alias Pro182Ser IPNMDB_404 phenoCommon dHMN IPNMDB_404 commonName c.545C>T IPNMDB_404 alias Pro182Leu IPNMDB_405 phenoCommon dHMN II IPNMDB_405 commonName c.421A>G IPNMDB_405 alias Lys141Glu IPNMDB_406 phenoCommon dHMN II IPNMDB_406 commonName c.423G>C IPNMDB_406 alias Lys141Asn IPNMDB_745 phenoCommon CMT2 IPNMDB_745 commonName c.423G>T IPNMDB_745 alias Lys141Asn IPNMDB_889 phenoCommon dHMN VI or SMARD1 IPNMDB_889 commonName c.[50T>C]+[1488C>A] IPNMDB_889 alias [Leu17Pro]+[Cys496X] IPNMDB_755 phenoCommon dHMN VI or SMARD1 IPNMDB_755 commonName c.[114delA]+[114delA] IPNMDB_755 alias [Lys38fs]+[Lys38fs] IPNMDB_924 phenoCommon dHMN VI or SMARD1 IPNMDB_924 commonName c.[120delC]+[1060G>A] IPNMDB_924 alias [Leu40fs]+[Gly354Ser] IPNMDB_768 phenoCommon dHMN VI or SMARD1 IPNMDB_768 commonName c.[121delC]+[388C>T] IPNMDB_768 alias [Gln41fs]+[Arg130X] IPNMDB_546 phenoCommon dHMN VI or SMARD1 IPNMDB_546 commonName c.[121C>T]+[675delT] IPNMDB_546 alias [Gln41X]+[Val225fs] IPNMDB_554 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_554 commonName c.[127C>T]+[1488C>A] IPNMDB_554 alias [Arg43X]+[Cys496X] IPNMDB_764 phenoCommon dHMN VI or SMARD1 IPNMDB_764 commonName c.[138T>A]+[1648_1649insG] IPNMDB_764 alias [Cys46X]+[Gln551fs] IPNMDB_896 phenoCommon dHMN VI or SMARD1 IPNMDB_896 commonName c.[163C>T]+[1969C>T] IPNMDB_896 alias [Gln55X]+[Gln657X] IPNMDB_550 phenoCommon - (polymorphism) IPNMDB_550 commonName c.180C>T IPNMDB_550 alias Tyr60Tyr IPNMDB_888 phenoCommon dHMN VI or SMARD1 IPNMDB_888 commonName c.[388C>T]+[388C>T] IPNMDB_888 alias [Arg130X]+[Arg130X] IPNMDB_758 phenoCommon dHMN VI or SMARD1 IPNMDB_758 commonName c.[388C>T]+[1144G>A] IPNMDB_758 alias [Arg130X]+[Glu382Lys] IPNMDB_898 phenoCommon dHMN VI or SMARD1 IPNMDB_898 commonName c.[388C>T]+[1743A>C] IPNMDB_898 alias [Arg130X]+[Arg581Ser] IPNMDB_765 phenoCommon dHMN VI or SMARD1 IPNMDB_765 commonName c.[439C>T]+[1488C>A] IPNMDB_765 alias [Arg147X]+[Cys496X] IPNMDB_757 phenoCommon dHMN VI or SMARD1 IPNMDB_757 commonName c.[575T>C]+[1277T>C] IPNMDB_757 alias [Leu192Pro]+[Leu426Pro] IPNMDB_662 phenoCommon dHMN VI or SMARD1 IPNMDB_662 commonName c.[587A>G]+[1909C>T] IPNMDB_662 alias Gln196Arg + Arg603Cys IPNMDB_895 phenoCommon dHMN VI or SMARD1 IPNMDB_895 commonName c.[616C>T]+[1877delT] IPNMDB_895 alias [Gln206X]+[Leu626fs] IPNMDB_544 phenoCommon dHMN VI or SMARD1 IPNMDB_544 commonName c.[638A>G]+[638A>G] IPNMDB_544 alias [His213Arg]+[His213Arg] IPNMDB_661 phenoCommon dHMN VI or SMARD1 IPNMDB_661 commonName c.[647C>T]+[1807C>T] VAR_024450 commonName VAR_024450 IPNMDB_661 alias Pro216Leu + Arg603Cys IPNMDB_890 phenoCommon dHMN VI or SMARD1 IPNMDB_890 commonName c.[661delA]+[1415T>C] IPNMDB_890 alias [Thr221fs]+[Leu472Pro] IPNMDB_431 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_431 commonName c.[661delA]+[?] IPNMDB_431 alias [Thr221fs] + [?] IPNMDB_774 phenoCommon dHMN VI or SMARD1 IPNMDB_774 commonName c.[661A>G]+[1813C>T] IPNMDB_774 alias [Thr221Ala]+[Arg605X] IPNMDB_767 phenoCommon dHMN VI or SMARD1 IPNMDB_767 commonName c.[707T>G]+[721T>C] IPNMDB_767 alias [Leu236X]+[Cys241Arg] IPNMDB_548 phenoCommon dHMN VI or SMARD1 IPNMDB_548 commonName c.[707T>G]+[707T>G] IPNMDB_548 alias [Leu236X]+[Leu236X] IPNMDB_665 phenoCommon dHMN VI or SMARD1 IPNMDB_665 commonName c.[752T>C]+[1730T>C] IPNMDB_665 alias Leu251Pro + Leu577Pro IPNMDB_897 phenoCommon dHMN VI or SMARD1 IPNMDB_897 commonName c.[904C>T]+[1156T>C] IPNMDB_897 alias [Gln302X]+[Trp386Arg] IPNMDB_624 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_624 commonName c.[958C>T]+[1488C>A] IPNMDB_624 alias [Arg320X]+[Cys496X] IPNMDB_660 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_660 commonName c.[958C>T]+[1082T>C] IPNMDB_660 alias [Arg320X]+[Leu361Pro] IPNMDB_756 phenoCommon dHMN VI or SMARD1 IPNMDB_756 commonName c.[983_987delAAGAA]+[983_987delAAGAA] IPNMDB_756 alias [Lys328fs]+[Lys328fs] IPNMDB_769 phenoCommon dHMN VI or SMARD1 IPNMDB_769 commonName c.[1000G>A]+[1000G>A] IPNMDB_769 alias [Glu334Lys]+[Glu334Lys] IPNMDB_893 phenoCommon dHMN VI or SMARD1 IPNMDB_893 commonName c.[1060+1G>T]+[1082T>C] IPNMDB_893 alias [5'-splice site mutation]+[Leu361Pro] IPNMDB_425 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_425 commonName c.[1082T>C]+[1488C>A] IPNMDB_425 alias [Leu361Pro]+[Cys496X] IPNMDB_761 phenoCommon dHMN VI or SMARD1 IPNMDB_761 commonName c.[1082T>C]+[1730T>C] IPNMDB_761 alias [Leu361Pro]+[Leu577Pro] IPNMDB_770 phenoCommon dHMN VI or SMARD1 IPNMDB_770 commonName c.[1091T>C]+[2436delT] IPNMDB_770 alias [Leu364Pro]+[Pro812fs] IPNMDB_753 phenoCommon dHMN VI or SMARD1 IPNMDB_753 commonName c.[1107C>G]+[256+?_1061-?del] IPNMDB_753 alias [Phe369Leu]+[Gly86_Thr353del] IPNMDB_891 phenoCommon dHMN VI or SMARD1 IPNMDB_891 commonName c.[1156T>C]+[1813C>T] IPNMDB_891 alias [Trp386Arg]+[Arg605X] IPNMDB_894 phenoCommon dHMN VI or SMARD1 IPNMDB_894 commonName c.[1218delC]+[1708C>T] IPNMDB_894 alias [Thr407fs]+[Arg570X] IPNMDB_892 phenoCommon dHMN VI or SMARD1 IPNMDB_892 commonName c.[1235+3A>G]+[1334A>C] IPNMDB_892 alias [Ala355fs]+[His445Pro] IPNMDB_547 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_547 commonName c.[1463delT]+[1463delT] IPNMDB_547 alias [Leu488fs]+[Leu488fs] IPNMDB_754 phenoCommon dHMN VI or SMARD1 IPNMDB_754 commonName c.[1488C>A]+[1488C>A] IPNMDB_754 alias [Cys496X]+[Cys496X] IPNMDB_763 phenoCommon dHMN VI or SMARD1 IPNMDB_763 commonName c.[1488C>A]+[1748A>T] IPNMDB_763 alias [Cys496X]+[Asn583Ile] IPNMDB_762 phenoCommon dHMN VI or SMARD1 IPNMDB_762 commonName c.[1488C>A]+[1808G>A] IPNMDB_762 alias [Cys496X]+[Arg603His] IPNMDB_664 phenoCommon dHMN VI or SMARD1 IPNMDB_664 commonName c.[1488C>A]+[?] IPNMDB_664 alias [Cys496X]+[?] IPNMDB_543 phenoCommon dHMN VI or SMARD1 IPNMDB_543 commonName c.[1540G>A]+[1540G>A] IPNMDB_543 alias [Glu514Lys]+[Glu514Lys] IPNMDB_771 phenoCommon dHMN VI or SMARD1 IPNMDB_771 commonName c.[1693G>A]+[1730T>C] IPNMDB_771 alias [Asp565Asn]+[Leu577Pro] IPNMDB_759 phenoCommon dHMN VI or SMARD1 IPNMDB_759 commonName c.[1714_1716delAAG]+[2922T>G] IPNMDB_759 alias [Lys572del]+[Asp974Glu] IPNMDB_545 phenoCommon dHMN VI or SMARD1 IPNMDB_545 commonName c.[1738G>A]+[1738G>A] IPNMDB_545 alias [Val580Ile]+[Val580Ile] IPNMDB_877 phenoCommon dHMN VI or SMARD1 IPNMDB_877 commonName c.[1738G>A]+[2356delG] IPNMDB_877 alias [V580I]+[A786fs] IPNMDB_772 phenoCommon dHMN VI or SMARD1 IPNMDB_772 commonName c.[1756G>T]+[1909C>T] IPNMDB_772 alias [Gly586Cys]+[Arg637Cys] IPNMDB_760 phenoCommon dHMN VI or SMARD1 IPNMDB_760 commonName c.[2362C>T]+[?] IPNMDB_760 alias [Arg788X]+[?] IPNMDB_549 phenoCommon dHMN VI or SMARD1 IPNMDB_549 commonName c.[2611+1G>T]+[2611+1G>T] IPNMDB_549 alias [5'-splice site]+[5'-splice site] IPNMDB_744 phenoCommon dHMN VI or SMARD1/polymorphism IPNMDB_744 commonName c.[2636C>A]+[2636C>A] IPNMDB_744 alias [Thr879Lys]+[Thr879Lys] IPNMDB_552 phenoCommon - (polymorphism) IPNMDB_552 commonName c.2636C>A IPNMDB_552 alias Thr879Lys IPNMDB_553 phenoCommon - (polymorphism) IPNMDB_553 commonName c.2784+54G>A IPNMDB_514 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_514 commonName c.[2087G>C]+[2204+6T>C] IPNMDB_514 alias [Arg696Pro]+[5'-splice site (skipping ex20)] IPNMDB_513 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_513 commonName c.[2204+6T>C]+[2204+6T>C] IPNMDB_513 alias [5'-splice site]+[5'-splice site] IPNMDB_363 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_363 commonName c.[2204+6T>C]+[2741C>T] IPNMDB_363 alias [5'-splice-site]+[Pro914Leu] IPNMDB_705 phenoCommon CMT2 / polymorphism IPNMDB_705 commonName c.146C>T IPNMDB_705 alias Thr49Met IPNMDB_712 phenoCommon - (polymorphism) IPNMDB_712 commonName c.220+38T>C IPNMDB_407 phenoCommon - (polymorphism) IPNMDB_407 commonName c.222T>C IPNMDB_407 alias Ile74Ile IPNMDB_713 phenoCommon - (polymorphism) IPNMDB_713 commonName c.274A>G IPNMDB_713 alias Ile92Val IPNMDB_707 phenoCommon - (polymorphism) IPNMDB_707 commonName c.330C>T IPNMDB_707 alias Asn110Asn IPNMDB_859 phenoCommon CMT1 IPNMDB_859 commonName c.332C>G IPNMDB_859 alias Ala111Gly IPNMDB_640 phenoCommon CMT1 IPNMDB_640 commonName c.334G>A IPNMDB_640 alias Gly112Ser IPNMDB_639 phenoCommon CMT1 IPNMDB_639 commonName c.344C>A IPNMDB_639 alias Thr115Asn IPNMDB_641 phenoCommon CMT1 IPNMDB_641 commonName c.346T>G IPNMDB_641 alias Trp116Gly IPNMDB_704 phenoCommon CMT1 IPNMDB_704 commonName c.364C>G IPNMDB_704 alias Leu122Val IPNMDB_714 phenoCommon - (polymorphism) IPNMDB_714 commonName c.378-29C>T IPNMDB_861 phenoCommon CMT1 IPNMDB_861 commonName c.403C>A IPNMDB_861 alias Pro135Thr IPNMDB_860 phenoCommon CMT1 IPNMDB_860 commonName c.403C>T IPNMDB_860 alias Pro135Ser IPNMDB_708 phenoCommon - (polymorphism) IPNMDB_708 commonName c.477G>A IPNMDB_708 alias Lys159Lys IPNMDB_709 phenoCommon - (polymorphism) IPNMDB_709 commonName c.539C>G IPNMDB_709 alias 3'UTR IPNMDB_710 phenoCommon - (polymorphism) IPNMDB_710 commonName c.585C>T IPNMDB_710 alias 3'UTR IPNMDB_711 phenoCommon - (polymorphism) IPNMDB_711 commonName c.629C>T IPNMDB_711 alias 3'UTR IPNMDB_706 phenoCommon CMT1 IPNMDB_706 commonName c.671T>C IPNMDB_706 alias 3'UTR IPNMDB_690 phenoCommon CMT2 + muscular dystrophy+ cardiac disease + leuconichia IPNMDB_690 commonName c.99G>T IPNMDB_690 alias Glu33Asp IPNMDB_567 phenoCommon CMT2 IPNMDB_567 commonName c.[892C>T]+[892C>T] IPNMDB_567 alias [Arg298Cys]+[Arg298Cys] IPNMDB_876 phenoCommon CMT2 IPNMDB_876 commonName c.134A>G IPNMDB_876 alias Gln45Arg IPNMDB_387 phenoCommon CMT2 + tremor, fatigue IPNMDB_387 commonName c.205G>T IPNMDB_387 alias Val69Phe IPNMDB_383 phenoCommon CMT2 IPNMDB_383 commonName c.227T>C IPNMDB_383 alias Leu76Pro IPNMDB_784 phenoCommon CMT2 IPNMDB_784 commonName c.275T>C IPNMDB_784 alias Leu92Pro IPNMDB_391 phenoCommon CMT2 (+ optic atrophy + migraine) IPNMDB_391 commonName c.280C>T IPNMDB_391 alias Arg94Trp IPNMDB_386 phenoCommon CMT2 + tremor IPNMDB_386 commonName c.281G>A IPNMDB_386 alias Arg94Gln IPNMDB_785 phenoCommon CMT2 IPNMDB_785 commonName c.299C>G IPNMDB_785 alias Ala100Gly IPNMDB_390 phenoCommon CMT2 + ataxia, scoliosis IPNMDB_390 commonName c.314C>T IPNMDB_390 alias Thr105Met IPNMDB_786 phenoCommon CMT2 IPNMDB_786 commonName c.368C>T IPNMDB_786 alias Pro123Leu IPNMDB_817 phenoCommon CMT2 IPNMDB_817 commonName c.380G>A IPNMDB_817 alias Gly127Asp IPNMDB_839 phenoCommon CMT2 IPNMDB_839 commonName c.380G>T IPNMDB_839 alias Gly127Val IPNMDB_844 phenoCommon CMT2 + pyramidal signs IPNMDB_844 commonName c.493C>G IPNMDB_844 alias His165Asp IPNMDB_788 phenoCommon CMT2 IPNMDB_788 commonName c.493C>T IPNMDB_788 alias His165Tyr IPNMDB_787 phenoCommon CMT2 IPNMDB_787 commonName c.494A>G IPNMDB_787 alias His165Arg IPNMDB_797 phenoCommon CMT2 + optic atrophy IPNMDB_797 commonName c.617C>T IPNMDB_797 alias Thr206Ile IPNMDB_822 phenoCommon CMT2 IPNMDB_822 commonName c.638T>C IPNMDB_822 alias Ile213Thr IPNMDB_715 phenoCommon CMT1 IPNMDB_715 commonName c.669T>A IPNMDB_715 alias Phe223Leu IPNMDB_716 phenoCommon CMT2 IPNMDB_716 commonName c.707C>T IPNMDB_716 alias Thr236Met IPNMDB_717 phenoCommon CMT2 IPNMDB_717 commonName c.730G>A IPNMDB_717 alias Val244Met IPNMDB_789 phenoCommon CMT2 IPNMDB_789 commonName c.[748C>T]+[1198C>T] IPNMDB_789 alias Arg250Trp+Arg400X IPNMDB_790 phenoCommon CMT2 IPNMDB_790 commonName c.749G>A IPNMDB_790 alias Arg250Gln IPNMDB_385 phenoCommon CMT2 + tremor IPNMDB_385 commonName c.751C>G IPNMDB_385 alias Pro251Ala IPNMDB_818 phenoCommon CMT2 IPNMDB_818 commonName c.787T>C IPNMDB_818 alias Ser263Pro IPNMDB_821 phenoCommon CMT2 IPNMDB_821 commonName c.818T>G IPNMDB_821 alias Val273Gly IPNMDB_389 phenoCommon CMT2 IPNMDB_389 commonName c.821G>A IPNMDB_389 alias Arg274Gln IPNMDB_798 phenoCommon CMT2 + optic atrophy IPNMDB_798 commonName c.827A>G IPNMDB_798 alias Gln276Arg IPNMDB_791 phenoCommon CMT2 IPNMDB_791 commonName c.830A>G IPNMDB_791 alias His277Arg IPNMDB_384 phenoCommon CMT2 IPNMDB_384 commonName c.839G>A IPNMDB_384 alias Arg280His IPNMDB_718 phenoCommon CMT2 IPNMDB_718 commonName c.851T>A IPNMDB_718 alias Phe284Tyr IPNMDB_824 phenoCommon - (polymorphism) IPNMDB_824 commonName c.892G>A IPNMDB_824 alias Gly298Arg IPNMDB_823 phenoCommon - (polymorphism) IPNMDB_823 commonName c.957C>T IPNMDB_823 alias Gly319Gly IPNMDB_840 phenoCommon CMT2 IPNMDB_840 commonName c.1040A>T IPNMDB_840 alias Glu347Val IPNMDB_846 phenoCommon CMT2 IPNMDB_846 commonName c.1048T>C IPNMDB_846 alias Ser350Pro IPNMDB_719 phenoCommon CMT2 IPNMDB_719 commonName c.1071G>C IPNMDB_719 alias Lys357Asn IPNMDB_799 phenoCommon CMT2 + optic atrophy IPNMDB_799 commonName c.1081C>T IPNMDB_799 alias His361Tyr IPNMDB_819 phenoCommon CMT2 IPNMDB_819 commonName c.1085C>T IPNMDB_819 alias Thr362Met IPNMDB_800 phenoCommon CMT2 + optic atrophy IPNMDB_800 commonName c.1090C>T IPNMDB_800 alias Arg364Trp IPNMDB_820 phenoCommon CMT2 IPNMDB_820 commonName c.1127T>C IPNMDB_820 alias Met376Thr IPNMDB_792 phenoCommon CMT2 IPNMDB_792 commonName c.1128G>A IPNMDB_792 alias Met376Ile IPNMDB_793 phenoCommon CMT2 IPNMDB_793 commonName c.1134_1142delCCTGCACAT IPNMDB_793 alias Leu379_Met381del IPNMDB_919 phenoCommon CMT2 IPNMDB_919 commonName c.1148C>T IPNMDB_919 alias Ala383Val IPNMDB_794 phenoCommon CMT2 IPNMDB_794 commonName c.[1157A>C;1158G>T] IPNMDB_794 alias Gln386Pro IPNMDB_388 phenoCommon CMT2 + optic atrophy IPNMDB_388 commonName c.1252C>T IPNMDB_388 alias Arg418X IPNMDB_720 phenoCommon CMT2 IPNMDB_720 commonName c.1271A>G IPNMDB_720 alias Glu424Gly IPNMDB_841 phenoCommon CMT2 / - (polymorphism) IPNMDB_841 commonName c.1403G>A IPNMDB_841 alias Arg468His IPNMDB_842 phenoCommon CMT2 / - (polymorphism) IPNMDB_842 commonName c.2113G>A IPNMDB_842 alias Val705Ile IPNMDB_795 phenoCommon CMT2 IPNMDB_795 commonName c.2129T>C IPNMDB_795 alias Leu710Pro IPNMDB_382 phenoCommon CMT2 IPNMDB_382 commonName c.2219G>C IPNMDB_382 alias Trp740Ser IPNMDB_796 phenoCommon CMT2 IPNMDB_796 commonName c.2251C>T IPNMDB_796 alias Gln751X IPNMDB_843 phenoCommon CMT2 IPNMDB_843 commonName c.2258_2259insT IPNMDB_843 alias Leu753fs IPNMDB_573 phenoCommon - (polymorphism) IPNMDB_573 commonName c.24C>T IPNMDB_573 alias Ser8Ser IPNMDB_849 phenoCommon CMT2 IPNMDB_849 commonName c.59C>T IPNMDB_849 alias Ser20Phe IPNMDB_340 phenoCommon CMT1 IPNMDB_340 commonName c.88_90delATCinsGGGGTTTACACC IPNMDB_340 alias Ile30delinsGlyValTyrThr IPNMDB_851 phenoCommon DSS IPNMDB_851 commonName c.89T>C IPNMDB_851 alias Ile30Thr IPNMDB_39 phenoCommon CMT1 IPNMDB_39 commonName c.90C>G IPNMDB_39 alias Ile30Met IPNMDB_40 phenoCommon CMT1-severe IPNMDB_40 commonName c.94G>T IPNMDB_40 alias Val32Phe IPNMDB_41 phenoCommon CMT1 IPNMDB_41 commonName c.101C>T IPNMDB_41 alias Thr34Ile IPNMDB_353 phenoCommon CMT1/2 IPNMDB_353 commonName c.103G>T IPNMDB_353 alias Asp35Tyr IPNMDB_831 phenoCommon CMT2 + pain IPNMDB_831 commonName c.106A>T IPNMDB_831 alias Arg36Trp IPNMDB_666 phenoCommon CMT1/2 (+ hearing loss + restless legs) IPNMDB_666 commonName c.116A>C IPNMDB_666 alias His39Pro IPNMDB_376 phenoCommon DSS IPNMDB_376 commonName c.[123_125delTGT]+[661G>A] IPNMDB_376 alias [Val42del]+[Ala221Thr] IPNMDB_42 phenoCommon CMT2 IPNMDB_42 commonName c.131C>T IPNMDB_42 alias Ser44Phe IPNMDB_429 phenoCommon - (polymorphism) IPNMDB_429 commonName c.134G>A IPNMDB_429 alias Arg45Gln IPNMDB_832 phenoCommon CMT1 IPNMDB_832 commonName c.143T>C IPNMDB_832 alias Leu48Pro IPNMDB_667 phenoCommon CMT1 IPNMDB_667 commonName c.149_175del27 IPNMDB_667 alias Cys50_Val58del IPNMDB_489 phenoCommon CMT1 IPNMDB_489 commonName c.152C>T IPNMDB_489 alias Ser51Phe IPNMDB_339 phenoCommon CMT1 IPNMDB_339 commonName c.160T>C IPNMDB_339 alias Ser54Pro IPNMDB_43 phenoCommon CMT1-severe IPNMDB_43 commonName c.161C>G IPNMDB_43 alias Ser54Cys IPNMDB_412 phenoCommon CMT2 IPNMDB_412 commonName c.166G>A IPNMDB_412 alias Glu56Lys IPNMDB_44 phenoCommon CMT1 IPNMDB_44 commonName c.172G>T IPNMDB_44 alias Val58Phe IPNMDB_670 phenoCommon CMT1 IPNMDB_670 commonName c.173T>A IPNMDB_670 alias Val58Asp IPNMDB_415 phenoCommon CMT2 IPNMDB_415 commonName c.178G>C IPNMDB_415 alias Asp60His IPNMDB_506 phenoCommon CMT1/2 IPNMDB_506 commonName c.181G>A IPNMDB_506 alias Asp61Asn IPNMDB_332 phenoCommon CMT2 IPNMDB_332 commonName c.182A>G IPNMDB_332 alias Asp61Gly IPNMDB_45 phenoCommon CMT1 with focally folded myelin IPNMDB_45 commonName c.184A>T IPNMDB_45 alias Ile62Phe IPNMDB_416 phenoCommon CMT2 IPNMDB_416 commonName c.186C>G IPNMDB_416 alias Ile62Met IPNMDB_46 phenoCommon DSS IPNMDB_46 commonName c.188C>G IPNMDB_46 alias Ser63Cys IPNMDB_47 phenoCommon CMT1 IPNMDB_47 commonName c.188C>T IPNMDB_47 alias Ser63Phe IPNMDB_48 phenoCommon CMT1 IPNMDB_48 commonName c.188_190delCCT IPNMDB_48 alias Ser63del IPNMDB_49 phenoCommon CMT1 (htz) / DSS (hmz) IPNMDB_49 commonName c.190_192delTTC IPNMDB_49 alias Phe64del IPNMDB_411 phenoCommon CMT1with focally folded myelin IPNMDB_411 commonName c.193A>G IPNMDB_411 alias Thr65Ala IPNMDB_683 phenoCommon CMT1 IPNMDB_683 commonName c.194C>A IPNMDB_683 alias Thr65Asn IPNMDB_626 phenoCommon CMT1 IPNMDB_626 commonName c.194C>T IPNMDB_626 alias Thr65Ile IPNMDB_777 phenoCommon CMT1 IPNMDB_777 commonName c.200G>C IPNMDB_777 alias Arg67Pro IPNMDB_50 phenoCommon CMT1-severe IPNMDB_50 commonName c.203A>G IPNMDB_50 alias Tyr68Cys IPNMDB_912 phenoCommon CMT2 IPNMDB_912 commonName c.208C>T IPNMDB_912 alias Pro70Ser IPNMDB_51 phenoCommon CMT1 IPNMDB_51 commonName c.223delG IPNMDB_51 alias Asp75fs IPNMDB_470 phenoCommon CMT2 IPNMDB_470 commonName c.224A>T IPNMDB_470 alias Asp75Val IPNMDB_333 phenoCommon CMT2 / polymorphism IPNMDB_333 commonName c.227C>T IPNMDB_333 alias Ala76Val IPNMDB_370 phenoCommon CMT1 IPNMDB_370 commonName c.233C>G IPNMDB_370 alias Ser78Trp IPNMDB_52 phenoCommon CMT1-severe (focally folded myelin) IPNMDB_52 commonName c.233C>T IPNMDB_52 alias Ser78Leu IPNMDB_505 phenoCommon CMT1 IPNMDB_505 commonName c.211G>T IPNMDB_505 alias Glu71X IPNMDB_338 phenoCommon CMT1 IPNMDB_338 commonName c.[241C>T;337G>T] IPNMDB_338 alias [His81Tyr;Val113Phe] IPNMDB_53 phenoCommon CMT1-severe (+ trigeminal nerve thickening) IPNMDB_53 commonName c.242A>G IPNMDB_53 alias His81Arg IPNMDB_850 phenoCommon CMT2 IPNMDB_850 commonName c.244T>C IPNMDB_850 alias Tyr82His IPNMDB_54 phenoCommon CMT1 / DSS IPNMDB_54 commonName c.245A>G IPNMDB_54 alias Tyr82Cys IPNMDB_55 phenoCommon DSS IPNMDB_55 commonName c.258_265delACCCTACAinsCCTCT IPNMDB_55 alias Gln86_Ile89delinsHisLeuPhe IPNMDB_371 phenoCommon CMT2 IPNMDB_371 commonName c.266T>A+274G>A+486C>G IPNMDB_371 alias Ile89Asn+Val92Met+Ile162Met IPNMDB_56 phenoCommon CMT1 IPNMDB_56 commonName c.270C>A IPNMDB_56 alias Asp90Glu IPNMDB_97 phenoCommon - (polymorphism) IPNMDB_97 commonName c.276G>A IPNMDB_97 alias Val92Val IPNMDB_57 phenoCommon CMT1 IPNMDB_57 commonName c.278G>A IPNMDB_57 alias Gly93Glu IPNMDB_58 phenoCommon CMT1 IPNMDB_58 commonName c.286A>G IPNMDB_58 alias Lys96Glu IPNMDB_542 phenoCommon CMT2 and deafness and pupillary abnormalities IPNMDB_542 commonName c.290A>T IPNMDB_542 alias Glu97Val IPNMDB_61 phenoCommon CMT1 IPNMDB_61 commonName c.292C>A IPNMDB_61 alias Arg98Ser IPNMDB_59 phenoCommon CMT1-severe / DSS IPNMDB_59 commonName c.292C>T IPNMDB_59 alias Arg98Cys IPNMDB_60 phenoCommon CMT1 IPNMDB_60 commonName c.293G>A IPNMDB_60 alias Arg98His IPNMDB_62 phenoCommon CMT1 IPNMDB_62 commonName c.293G>C IPNMDB_62 alias Arg98Pro IPNMDB_63 phenoCommon CMT1 / CIDP IPNMDB_63 commonName c.296T>C IPNMDB_63 alias Ile99Thr IPNMDB_64 phenoCommon CMT1 IPNMDB_64 commonName c.303G>C IPNMDB_64 alias Trp101Cys IPNMDB_65 phenoCommon CMT1 (htz) / DSS (hmz) IPNMDB_65 commonName c.306delA IPNMDB_65 alias Val102fs IPNMDB_578 phenoCommon CMT1 IPNMDB_578 commonName c.308G>A IPNMDB_578 alias Gly103Glu IPNMDB_901 phenoCommon CMT2 + hearing impairment IPNMDB_901 commonName c.313C>A IPNMDB_901 alias Pro105Thr IPNMDB_421 phenoCommon CMT1 IPNMDB_421 commonName c.325G>A IPNMDB_421 alias Asp109Asn IPNMDB_414 phenoCommon CMT2 IPNMDB_414 commonName c.327T>A IPNMDB_414 alias Asp109Glu IPNMDB_560 phenoCommon DSS IPNMDB_560 commonName c.329G>A IPNMDB_560 alias Gly110Asp IPNMDB_66 phenoCommon CMT1-severe IPNMDB_66 commonName c.335T>C IPNMDB_66 alias Ile112Thr IPNMDB_627 phenoCommon - (polymorphism) IPNMDB_627 commonName c.337G>A IPNMDB_627 alias Val113Ile IPNMDB_67 phenoCommon DSS IPNMDB_67 commonName c.[341T>C;346A>C;382G>A] IPNMDB_67 alias [Ile114Thr;Asn116His;Asp128Asn] IPNMDB_722 phenoCommon CMT2 IPNMDB_722 commonName c.352G>A IPNMDB_722 alias Asp118Asn IPNMDB_68 phenoCommon DSS IPNMDB_68 commonName c.355_356insTCTACT IPNMDB_68 alias Asp118_Tyr119insPheTyr IPNMDB_331 phenoCommon CMT2 IPNMDB_331 commonName c.356A>G IPNMDB_331 alias Tyr119Cys IPNMDB_69 phenoCommon CMT1 IPNMDB_69 commonName c.365A>G IPNMDB_69 alias Asn122Ser IPNMDB_372 phenoCommon DSS IPNMDB_372 commonName c.367G>T IPNMDB_372 alias Gly123Cys IPNMDB_776 phenoCommon CMT1 IPNMDB_776 commonName c.367G>A IPNMDB_776 alias Gly123Ser IPNMDB_413 phenoCommon CH IPNMDB_413 commonName c.371C>A IPNMDB_413 alias Thr124Lys IPNMDB_70 phenoCommon CMT1/2 (+ pupillary abnormalities + deafness + chronic cough) IPNMDB_70 commonName c.371C>T IPNMDB_70 alias Thr124Met IPNMDB_71 phenoCommon DSS IPNMDB_71 commonName c.372_377delGTTCAC IPNMDB_71 alias Phe125_Thr126del IPNMDB_72 phenoCommon DSS IPNMDB_72 commonName c.380G>A IPNMDB_72 alias Cys127Tyr IPNMDB_418 phenoCommon CMT1 IPNMDB_418 commonName c.382G>A IPNMDB_418 alias Asp128Asn IPNMDB_73 phenoCommon CMT1 IPNMDB_73 commonName c.384C>G IPNMDB_73 alias Asp128Glu IPNMDB_74 phenoCommon CMT1 / DSS IPNMDB_74 commonName c.389A>G IPNMDB_74 alias Lys130Arg IPNMDB_424 phenoCommon CMT1 (Roussy-Lévy syndrome) (+ focally folded myelin sheaths) IPNMDB_424 commonName c.393C>A IPNMDB_424 alias Asn131Lys IPNMDB_75 phenoCommon CMT1 IPNMDB_75 commonName c.395C>T IPNMDB_75 alias Pro132Leu IPNMDB_77 phenoCommon CMT1 IPNMDB_77 commonName c.400G>A IPNMDB_77 alias Asp134Asn IPNMDB_341 phenoCommon CMT1 IPNMDB_341 commonName c.401A>G IPNMDB_341 alias Asp134Gly IPNMDB_76 phenoCommon CMT1 IPNMDB_76 commonName c.402C>A IPNMDB_76 alias Asp134Glu IPNMDB_78 phenoCommon CMT1 IPNMDB_78 commonName c.403A>C IPNMDB_78 alias Ile135Leu IPNMDB_79 phenoCommon CMT1 / DSS IPNMDB_79 commonName c.404T>C IPNMDB_79 alias Ile135Thr IPNMDB_373 phenoCommon DSS IPNMDB_373 commonName c.407T>A IPNMDB_373 alias Val136Glu IPNMDB_80 phenoCommon CMT1 IPNMDB_80 commonName c.409G>A IPNMDB_80 alias Gly137Ser IPNMDB_342 phenoCommon CMT1 IPNMDB_342 commonName c.414G>C IPNMDB_342 alias Lys138Asn IPNMDB_343 phenoCommon CMT1 IPNMDB_343 commonName c.416C>A IPNMDB_343 alias Thr139Asn IPNMDB_575 phenoCommon CMT1 IPNMDB_575 commonName c.418T>A IPNMDB_575 alias Ser140Thr IPNMDB_490 phenoCommon CMT2 IPNMDB_490 commonName c.421C>T IPNMDB_490 alias Gln141X IPNMDB_81 phenoCommon CMT1 IPNMDB_81 commonName c.428C>T IPNMDB_81 alias Thr143Met IPNMDB_362 phenoCommon CMT1/2 (+ deafness) (+pupillary abnormalities in hmz) IPNMDB_362 commonName c.434A>C IPNMDB_362 alias Tyr145Ser IPNMDB_439 phenoCommon CMT1 IPNMDB_439 commonName c.436G>T IPNMDB_439 alias Val146Phe IPNMDB_82 phenoCommon CMT1 IPNMDB_82 commonName c.449-1G>C IPNMDB_82 alias 3'-splice site IPNMDB_723 phenoCommon CMT1 IPNMDB_723 commonName c.449-1G>T IPNMDB_723 alias 3' splice site IPNMDB_83 phenoCommon CMT1 IPNMDB_83 commonName c.462C>A IPNMDB_83 alias Tyr154X IPNMDB_84 phenoCommon CMT1 IPNMDB_84 commonName c.487G>A IPNMDB_84 alias Gly163Arg IPNMDB_86 phenoCommon DSS IPNMDB_86 commonName c.[496delC;499G>C] IPNMDB_86 alias Leu166fs IPNMDB_85 phenoCommon CMT1 / DSS / CH IPNMDB_85 commonName c.499G>A IPNMDB_85 alias Gly167Arg IPNMDB_426 phenoCommon DSS IPNMDB_426 commonName c.506delT IPNMDB_426 alias Val169fs IPNMDB_88 phenoCommon DSS IPNMDB_88 commonName c.522_525delGCTT IPNMDB_88 alias Leu174fs IPNMDB_89 phenoCommon CMT1 IPNMDB_89 commonName c.543C>G IPNMDB_89 alias Tyr181X IPNMDB_922 phenoCommon CH IPNMDB_922 commonName c.549_550insG IPNMDB_922 alias Leu184fs IPNMDB_369 phenoCommon CH + cranial nerve dysfunction + respiratory failure + hypertrophic cardiomyopathy IPNMDB_369 commonName c.550_552delCTAinsG IPNMDB_369 alias Leu184fs IPNMDB_90 phenoCommon CMT1 IPNMDB_90 commonName c.554delG IPNMDB_90 alias Arg185fs IPNMDB_87 phenoCommon DSS IPNMDB_87 commonName c.563_564insAGGC IPNMDB_87 alias Ala188fs IPNMDB_699 phenoCommon CMT1 IPNMDB_699 commonName c.570delG IPNMDB_699 alias Leu190fs IPNMDB_848 phenoCommon CMT1 IPNMDB_848 commonName c.584+2T>G IPNMDB_848 alias 5'-splice site IPNMDB_98 phenoCommon - (polymorphism) IPNMDB_98 commonName c.600G>A IPNMDB_98 alias Gly200Gly IPNMDB_91 phenoCommon CMT1 IPNMDB_91 commonName c.614_615insGGGAAATTGCACAAGCC IPNMDB_91 alias Pro205fs IPNMDB_430 phenoCommon CMT1 IPNMDB_430 commonName c.616G>T IPNMDB_430 alias Gly206X IPNMDB_557 phenoCommon -(polymorphism IPNMDB_557 commonName c.637G>C IPNMDB_557 alias Gly213Arg IPNMDB_92 phenoCommon CH IPNMDB_92 commonName c.643C>T IPNMDB_92 alias Gln215X IPNMDB_684 phenoCommon CMT1 IPNMDB_684 commonName c.645+1G>T IPNMDB_684 alias 5'-splice site IPNMDB_93 phenoCommon DSS IPNMDB_93 commonName c.662_663insGC IPNMDB_93 alias Ala221fs IPNMDB_94 phenoCommon CMT1 IPNMDB_94 commonName c.676_677insCA IPNMDB_94 alias Ser226fs IPNMDB_99 phenoCommon - (polymorphism) IPNMDB_99 commonName c.684C>T IPNMDB_99 alias Ser228Ser IPNMDB_95 phenoCommon CMT1-severe IPNMDB_95 commonName c.699_702delTGAG IPNMDB_95 alias Ser233fs IPNMDB_576 phenoCommon CMT1/CMT2 IPNMDB_576 commonName c.706_708delAAG IPNMDB_576 alias Lys236del IPNMDB_724 phenoCommon CMT2 IPNMDB_724 commonName c.706A>G IPNMDB_724 alias Lys236Glu IPNMDB_100 phenoCommon - (polymorphism) IPNMDB_100 commonName c.731G>T IPNMDB_100 alias Arg244Leu IPNMDB_493 phenoCommon - (polymorphism) IPNMDB_493 commonName c.8C>A IPNMDB_493 alias Thr3Lys IPNMDB_498 commonName c.[298G>A]+[?] IPNMDB_498 alias [Ala100Thr]+[?] IPNMDB_502 phenoCommon CMT4B IPNMDB_502 commonName c.[308G>A]+[308G>A] IPNMDB_502 alias [Gly103Glu]+[Gly103Glu] IPNMDB_503 phenoCommon CMT4B IPNMDB_503 commonName c.[324delG]+[324delG] IPNMDB_503 alias [Thr108fs]+[Thr108fs] IPNMDB_735 phenoCommon CMT4B IPNMDB_735 commonName c.681_682ins446 IPNMDB_735 alias Thr228fs IPNMDB_433 phenoCommon CMT4B IPNMDB_433 commonName c.[826G>T;1480_1593del]+[826G>T;1480_1593del] IPNMDB_433 alias [Glu276X;Phe494_Glu531del]+[Glu276X;Phe494_Glu531del] IPNMDB_736 phenoCommon CMT4B IPNMDB_736 commonName c.[841_844delATCA]+[?] IPNMDB_736 alias [Ile281fs]+[?] IPNMDB_634 phenoCommon CMT4B IPNMDB_634 commonName c.[847C>T]+[847C>T] IPNMDB_634 alias [Arg283Trp]+[Arg283Trp] IPNMDB_495 phenoCommon - (polymorphism) IPNMDB_495 commonName c.1131T>C IPNMDB_495 alias Thr377Thr IPNMDB_496 phenoCommon - (polymorphism) IPNMDB_496 commonName c.1233G>A IPNMDB_496 alias Thr411Thr IPNMDB_501 phenoCommon - (polymorphism) IPNMDB_501 commonName c.1233G>T IPNMDB_501 alias Thr411Thr IPNMDB_432 phenoCommon CMT4B IPNMDB_432 commonName c.[1276C>T]+[1276C>T] IPNMDB_432 alias [Gln426X]+[Gln426X] IPNMDB_434 phenoCommon CMT4B IPNMDB_434 commonName c.[1444C>T]+[1444C>T] IPNMDB_434 alias [Gln482X]+[Arg477X] IPNMDB_497 phenoCommon - (polymorphism) IPNMDB_497 commonName c.1504G>C IPNMDB_497 alias Glu502Gln IPNMDB_499 phenoCommon CH IPNMDB_499 commonName c.[1634A>G]+[?] IPNMDB_499 alias [Asn545Ser]+[?] IPNMDB_435 phenoCommon CMT4B IPNMDB_435 commonName c.[1736delATTACATAAGinsCC]+[1736delATTACATAAGinsCC] IPNMDB_435 alias [Tyr579fs]+[Tyr579fs] IPNMDB_779 phenoCommon CMT4B IPNMDB_779 commonName c.1749G>A IPNMDB_779 alias Trp583X IPNMDB_500 phenoCommon CH IPNMDB_500 commonName c.[1805C>G]+[?] IPNMDB_500 alias [Ala602Gly]+[?] IPNMDB_436 phenoCommon HMSN-L IPNMDB_436 commonName c.[442C>T]+[442C>T] IPNMDB_436 alias [Arg148X]+[Arg148X] IPNMDB_33 phenoCommon HMSN-L IPNMDB_33 commonName c.[538-1G>A]+[538-1G>A] IPNMDB_33 alias [3'-splice site]+[3'-splice site] IPNMDB_594 phenoCommon unspecified CMT IPNMDB_594 commonName c.[19G>A]+[23C>G] IPNMDB_594 alias [Glu7Lys]+[Pro8Arg] IPNMDB_520 phenoCommon CMT2 IPNMDB_520 commonName c.[22C>A;23C>G] IPNMDB_520 alias Pro8Arg IPNMDB_597 phenoCommon CMT1 IPNMDB_597 commonName c.23C>A IPNMDB_597 alias Pro8Gln IPNMDB_595 phenoCommon CMT1 or CMT1/2 IPNMDB_595 commonName c.23C>G IPNMDB_595 alias Pro8Arg IPNMDB_596 phenoCommon CMT1 IPNMDB_596 commonName c.23C>T IPNMDB_596 alias Pro8Leu IPNMDB_863 phenoCommon CMT1 IPNMDB_863 commonName c.48_60dupGCGCTACGTGGAG IPNMDB_863 alias Thr21fs IPNMDB_586 phenoCommon CMT1 IPNMDB_586 commonName c.64C>A IPNMDB_586 alias Pro22Thr IPNMDB_583 phenoCommon CMT1/2 IPNMDB_583 commonName c.64C>T IPNMDB_583 alias Pro22Ser IPNMDB_602 phenoCommon - (polymorphism) IPNMDB_602 commonName c.192G>A IPNMDB_602 alias Leu64Leu IPNMDB_591 phenoCommon - (polymorphism) IPNMDB_591 commonName c.227T>C IPNMDB_591 alias Val76Ala IPNMDB_598 phenoCommon CMT1 IPNMDB_598 commonName c.268G>A IPNMDB_598 alias Glu90Lys IPNMDB_592 phenoCommon - (polymorphism) IPNMDB_592 commonName c.279G>A IPNMDB_592 alias Gln93Gln IPNMDB_913 phenoCommon CMT1/2 IPNMDB_913 commonName c.281T>C IPNMDB_913 alias Leu94Pro IPNMDB_588 phenoCommon CMT1 IPNMDB_588 commonName c.293A>G IPNMDB_588 alias Asn98Ser IPNMDB_603 phenoCommon - (polymorphism) IPNMDB_603 commonName c.423G>A IPNMDB_603 alias Gln141Gln IPNMDB_589 phenoCommon unspecified CMT IPNMDB_589 commonName c.446C>T IPNMDB_589 alias Ala149Val IPNMDB_816 phenoCommon - (polymorphism) IPNMDB_816 commonName c.639C>G IPNMDB_816 alias Ile213Met IPNMDB_604 phenoCommon - (polymorphism) IPNMDB_604 commonName c.667C>T IPNMDB_604 alias Leu223Leu IPNMDB_605 phenoCommon - (polymorphism) IPNMDB_605 commonName c.720C>T IPNMDB_605 alias Tyr240Tyr IPNMDB_437 phenoCommon CMT2 IPNMDB_437 commonName c.995A>C IPNMDB_437 alias Gln332Pro IPNMDB_728 phenoCommon CMT2 IPNMDB_728 commonName c.998T>C IPNMDB_728 alias Leu333Pro IPNMDB_417 phenoCommon CMT1 / CMT2 IPNMDB_417 commonName c.1186G>A IPNMDB_417 alias Glu396Lys IPNMDB_606 phenoCommon - (polymorphism) IPNMDB_606 commonName c.1212C>T IPNMDB_606 alias Ser404Ser IPNMDB_607 phenoCommon - (polymorphism) IPNMDB_607 commonName c.1402G>A IPNMDB_607 alias Asp468Asn IPNMDB_608 phenoCommon - (polymorphism) IPNMDB_608 commonName c.1458C>T IPNMDB_608 alias Ala486Ala IPNMDB_593 phenoCommon - (polymorphism) IPNMDB_593 commonName c.1492G>A IPNMDB_593 alias Ala498Thr IPNMDB_748 phenoCommon -(polymorphism) IPNMDB_748 commonName c.1573_1574insG IPNMDB_748 alias Glu525fs IPNMDB_600 phenoCommon CMT1 / polymorphism IPNMDB_600 commonName c.1579_1581delGAG IPNMDB_600 alias Glu527del IPNMDB_396 phenoCommon HSAN V IPNMDB_396 commonName c.[661C>T]+[661C>T] IPNMDB_396 alias [Arg221Trp]+[Arg221Trp] IPNMDB_442 phenoCommon CIPA or HSN IV (H406Y + G613V are polymorphisms) IPNMDB_442 commonName c.[25C>T;1810C>T;1838 G>T]+[25C>T; 1810C>T; 1838 G>T] IPNMDB_442 alias [Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val] IPNMDB_449 phenoCommon CIPA or HSN IV IPNMDB_449 commonName c.[200delA]+[200delA] IPNMDB_449 alias [Asn67fs]+[Asn67fs] IPNMDB_443 phenoCommon CIPA or HSN IV (R85S is a polymorphism) IPNMDB_443 commonName c.[253C>A; 429-1G>C]+[253C>A; 429-1G>C] IPNMDB_443 alias [Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site] IPNMDB_454 phenoCommon CIPA or HSN IV IPNMDB_454 commonName c.278T>C IPNMDB_454 alias Leu93Pro IPNMDB_806 phenoCommon CIPA or HSN IV IPNMDB_806 commonName c.[359+5G>T]+[359+5G>T] IPNMDB_806 alias 5'-splice site (skipping exon 3 and skipping exons 2+3) IPNMDB_455 phenoCommon CIPA or HSN IV IPNMDB_455 commonName c.[391_392delTC]+[391_392delTC] IPNMDB_455 alias [Ser131fs]+[Ser131fs] IPNMDB_456 phenoCommon CIPA or HSN IV IPNMDB_456 commonName c.490G>T IPNMDB_456 alias Glu164X IPNMDB_691 phenoCommon CIPA or HSN IV IPNMDB_691 commonName c.[526C>T]+[526C>T] IPNMDB_691 alias [Gln176X]+[Gln176X] IPNMDB_805 phenoCommon CIPA or HSN IV IPNMDB_805 commonName c.[543delG]+[543delG] IPNMDB_805 alias Gly181fs IPNMDB_541 phenoCommon CIPA or HSN IV (H604Y + G613V are polymorphisms) IPNMDB_541 commonName c.[574+1G>A]+[1810C>T;1838G>T;1843G>T;1849G>T] IPNMDB_541 alias [5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu] IPNMDB_453 phenoCommon CIPA or HSN IV IPNMDB_453 commonName c.[638T>C]+[924_930delGCCGGCA] IPNMDB_453 alias [Leu213Pro]+[Gln308fs] IPNMDB_700 phenoCommon CIPA or HSN IV + tooth loss and palmar hyperkeratosis IPNMDB_700 commonName c.[638T>C]+[1556delG] IPNMDB_700 alias [Leu213Pro]+[Gly519fs IPNMDB_697 phenoCommon HS(A)N IPNMDB_697 commonName c.[717+1G>C]+[2144T>C] IPNMDB_697 alias [5'-splice site]+[Val715Ala] IPNMDB_451 phenoCommon CIPA or HSN IV IPNMDB_451 commonName c.[850+1G>A]+[850+1G>A] IPNMDB_451 alias [5'-splice site]+[5'-splice site] IPNMDB_457 phenoCommon CIPA or HSN IV IPNMDB_457 commonName c.851-33T>A IPNMDB_535 phenoCommon HSAN V IPNMDB_535 commonName c.[1076A>G]+[1076A>G] IPNMDB_535 alias [Tyr359Cys]+[Tyr359Cys] IPNMDB_458 phenoCommon CIPA or HSN IV IPNMDB_458 commonName c.1077C>A IPNMDB_458 alias Tyr359X IPNMDB_695 phenoCommon CIPA or HSN IV IPNMDB_695 commonName c.[1196-1G>A]+[1196-1G>A] IPNMDB_695 alias [3'-splice site]+[3'-splice site] IPNMDB_693 phenoCommon CIPA or HSN IV IPNMDB_693 commonName c.[1522_1523delCG]+[1522_1523delCG] IPNMDB_693 alias [Arg508fs]+[Arg508fs] IPNMDB_692 phenoCommon CIPA or HSN IV IPNMDB_692 commonName c.[1531_1532insGGACATCG]+[1531_1532insGGACATCG] IPNMDB_692 alias [Val511fs]+[Val511fs] IPNMDB_835 phenoCommon CIPA or HSN IV IPNMDB_835 commonName c.[1555G>C]+[2303C>T] IPNMDB_835 alias [Gly519Arg]+[Pro768Leu] IPNMDB_459 phenoCommon CIPA or HSN IV IPNMDB_459 commonName c.1564G>A IPNMDB_459 alias Gly522Arg IPNMDB_444 phenoCommon CIPA or HSN IV IPNMDB_444 commonName c.[1660delC]+[1660delC] IPNMDB_444 alias [Arg554fs]+[Arg554fs] IPNMDB_445 phenoCommon CIPA or HSN IV IPNMDB_445 commonName c.[1729G>C]+[1729G>C] IPNMDB_445 alias [Gly577Arg]+[Gly577Arg] IPNMDB_460 phenoCommon CIPA or HSN IV IPNMDB_460 commonName c.1754delT IPNMDB_460 alias Leu585fs IPNMDB_461 phenoCommon CIPA or HSN IV IPNMDB_461 commonName c.1804C>T IPNMDB_461 alias Arg602X IPNMDB_538 phenoCommon - (polymorphism) IPNMDB_538 commonName c.[1838G>T]+[1838G>T] IPNMDB_538 alias [Gly613Val]+[Gly613Val] IPNMDB_1 phenoCommon CIPA or HSN IV IPNMDB_1 commonName c.[1860_1861insT]+[1860_1861insT] IPNMDB_1 alias [Pro621fs]+[Pro621fs] IPNMDB_804 phenoCommon CIPA or HSN IV IPNMDB_804 commonName c.[1877_1878insA]+[1877_1878insA] IPNMDB_804 alias Gln626fs IPNMDB_536 phenoCommon - (polymorphism) IPNMDB_536 commonName c.1887C>T IPNMDB_536 alias Ala629Ala IPNMDB_450 phenoCommon CIPA or HSN IV IPNMDB_450 commonName c.[1945C>T]+[1945C>T] IPNMDB_450 alias [Arg649Trp]+[Arg649Trp] IPNMDB_462 phenoCommon CIPA or HSN IV IPNMDB_462 commonName c.1960C>T IPNMDB_462 alias Arg654Cys IPNMDB_463 phenoCommon CIPA or HSN IV IPNMDB_463 commonName c.2002G>T IPNMDB_463 alias Asp674Tyr IPNMDB_446 phenoCommon CIPA or HSN IV IPNMDB_446 commonName c.[2046+3A>C]+[2046+3A>C] IPNMDB_446 alias [5'-splice site]+[5'-splice site] IPNMDB_540 phenoCommon - (polymorphism) IPNMDB_540 commonName c.[2052A>G]+[2052A>G] IPNMDB_540 alias [Gly684Gly]+[Gly684Gly] IPNMDB_539 phenoCommon CIPA or HSN IV IPNMDB_539 commonName c.[2084C>T]+[2084C>T] IPNMDB_539 alias [Pro695Leu]+[Pro695Leu] IPNMDB_452 phenoCommon CIPA or HSN IV IPNMDB_452 commonName c.[2140G>A]+[2140G>A] IPNMDB_452 alias [Gly714Ser]+[Gly714Ser] IPNMDB_694 phenoCommon CIPA or HSN IV IPNMDB_694 commonName c.[2271C>G]+[2281C>T] IPNMDB_694 alias [Tyr757X]+[Arg761Trp] IPNMDB_696 phenoCommon CIPA or HSN IV IPNMDB_696 commonName c.[2281C>T]+[2281C>T] IPNMDB_696 alias [Arg761Trp]+[Arg761Trp] IPNMDB_464 phenoCommon CIPA or HSN IV IPNMDB_464 commonName c.2327_2328insT IPNMDB_464 alias Asp776fs IPNMDB_447 phenoCommon CIPA or HSN IV IPNMDB_447 commonName c.[2339G>C]+[2339G>C] IPNMDB_447 alias [Arg780Pro]+[Arg780Pro] IPNMDB_931 phenoCommon Autosomal recessive lower motor neuron disease with childhood onset IPNMDB_931 commonName c.[1940T>C]+[1940T>C] IPNMDB_931 alias [Phe647Ser]+[Phe647Ser] IPNMDB_614 phenoCommon - (polymorphism) IPNMDB_614 commonName c.-141C>G IPNMDB_619 phenoCommon - (polymorphism) IPNMDB_619 commonName c.-134G>A IPNMDB_620 phenoCommon - (polymorphism) IPNMDB_620 commonName c.-40G>A IPNMDB_914 phenoCommon HNPP IPNMDB_914 commonName c.11delT IPNMDB_914 alias Leu4fs IPNMDB_2 phenoCommon HNPP IPNMDB_2 commonName c.19_20delAG IPNMDB_2 alias Leu7fs IPNMDB_3 phenoCommon DSS IPNMDB_3 commonName c.36C>A IPNMDB_3 alias His12Gln IPNMDB_4 phenoCommon CMT1 IPNMDB_4 commonName c.47T>C IPNMDB_4 alias Leu16Pro IPNMDB_5 phenoCommon DSS IPNMDB_5 commonName c.56T>C IPNMDB_5 alias Leu19Pro IPNMDB_751 phenoCommon CMT1 / HNPP IPNMDB_751 commonName c.65C>T IPNMDB_751 alias Ser22Phe IPNMDB_743 phenoCommon CMT1 + deafness IPNMDB_743 commonName c.68C>G IPNMDB_743 alias Thr23Arg IPNMDB_348 phenoCommon CMT1 IPNMDB_348 commonName c.73_78delGTCAGC IPNMDB_348 alias Val25_Ser26del IPNMDB_6 phenoCommon HNPP IPNMDB_6 commonName c.78+1G>T IPNMDB_6 alias 5'-splice site IPNMDB_374 phenoCommon CMT1 + deafness IPNMDB_374 commonName c.82T>C IPNMDB_374 alias Trp28Arg IPNMDB_34 phenoCommon - (polymorphism) IPNMDB_34 commonName c.87C>T IPNMDB_34 alias Ile29Ile IPNMDB_7 phenoCommon HNPP IPNMDB_7 commonName c.88G>A IPNMDB_7 alias Val30Met IPNMDB_337 phenoCommon CMT1 IPNMDB_337 commonName c.110A>T IPNMDB_337 alias Asp37Val IPNMDB_853 phenoCommon HNPP IPNMDB_853 commonName c.178+1G>C IPNMDB_853 alias 5'-splice site IPNMDB_504 phenoCommon HNPP IPNMDB_504 commonName c.179-1G>C IPNMDB_504 alias 3'-splice site IPNMDB_555 phenoCommon CMT1 IPNMDB_555 commonName c.179-2A>G IPNMDB_555 alias 3'-splice site IPNMDB_8 phenoCommon HNPP IPNMDB_8 commonName c.183G>A IPNMDB_8 alias Trp61X IPNMDB_615 phenoCommon CMT1 + hearing impairment IPNMDB_615 commonName c.193G>T IPNMDB_615 alias Val65Phe IPNMDB_364 phenoCommon HNPP IPNMDB_364 commonName c.199G>A IPNMDB_364 alias Ala67Thr IPNMDB_9 phenoCommon CMT1 + deafness IPNMDB_9 commonName c.199G>C IPNMDB_9 alias Ala67Pro IPNMDB_10 phenoCommon DSS IPNMDB_10 commonName c.206T>A IPNMDB_10 alias Met69Lys IPNMDB_375 phenoCommon CMT1 / DSS (+vestibular loss + hearing loss) IPNMDB_375 commonName c.212T>C IPNMDB_375 alias Leu71Pro IPNMDB_13 phenoCommon DSS IPNMDB_13 commonName c.214T>C IPNMDB_13 alias Ser72Pro IPNMDB_12 phenoCommon DSS IPNMDB_12 commonName c.215C>G IPNMDB_12 alias Ser72Trp IPNMDB_11 phenoCommon CMT1 / DSS (+ deafness) / CH IPNMDB_11 commonName c.215C>T IPNMDB_11 alias Ser72Leu IPNMDB_14 phenoCommon DSS (+ deafness) IPNMDB_14 commonName c.227G>T IPNMDB_14 alias Ser76Ile IPNMDB_16 phenoCommon DSS IPNMDB_16 commonName c.235T>C IPNMDB_16 alias Ser79Pro IPNMDB_15 phenoCommon CMT1 IPNMDB_15 commonName c.236C>G IPNMDB_15 alias Ser79Cys IPNMDB_17 phenoCommon DSS IPNMDB_17 commonName c.238_239delCT IPNMDB_17 alias Leu80fs IPNMDB_18 phenoCommon DSS IPNMDB_18 commonName c.239T>C IPNMDB_18 alias Leu80Pro IPNMDB_19 phenoCommon DSS (with multiple cranial involvement) IPNMDB_19 commonName c.251_253delTCT IPNMDB_19 alias Phe84del IPNMDB_621 phenoCommon CMT1 IPNMDB_621 commonName c.256C>T IPNMDB_621 alias Gln86X IPNMDB_20 phenoCommon CMT1 IPNMDB_20 commonName c.277G>C IPNMDB_20 alias Gly93Arg IPNMDB_22 phenoCommon CMT1 / DSS IPNMDB_22 commonName c.281delG IPNMDB_22 alias Gly94fs IPNMDB_21 phenoCommon HNPP IPNMDB_21 commonName c.281_282insG IPNMDB_21 alias Gly94fs IPNMDB_23 phenoCommon DSS IPNMDB_23 commonName c.298G>A IPNMDB_23 alias Gly100Arg IPNMDB_24 phenoCommon DSS IPNMDB_24 commonName c.299G>A IPNMDB_24 alias Gly100Glu IPNMDB_622 phenoCommon CMT1 IPNMDB_622 commonName c.312delT IPNMDB_622 alias Ile104fs IPNMDB_25 phenoCommon CMT1 IPNMDB_25 commonName c.314T>G IPNMDB_25 alias Leu105Arg IPNMDB_721 phenoCommon CMT1 IPNMDB_721 commonName c.318delT IPNMDB_721 alias Ala106fs IPNMDB_26 phenoCommon CMT1 IPNMDB_26 commonName c.319+1G>A IPNMDB_26 alias 5'-splice site IPNMDB_27 phenoCommon CMT1 IPNMDB_27 commonName c.320G>T IPNMDB_27 alias Gly107Val IPNMDB_336 phenoCommon CH IPNMDB_336 commonName c.325T>C IPNMDB_336 alias Cys109Arg IPNMDB_703 phenoCommon CMT1 IPNMDB_703 commonName c.327C>A IPNMDB_703 alias Cys109X IPNMDB_35 phenoCommon - (polymorphism) IPNMDB_35 commonName c.327C>T IPNMDB_35 alias Cys109Cys IPNMDB_635 phenoCommon CMT1 + deafness IPNMDB_635 commonName c.343_354delGCCATCTACACG IPNMDB_635 alias Ala115_Thr118del IPNMDB_28 phenoCommon CMT1 (hemizygous) / polymorphism (heterozygous) IPNMDB_28 commonName c.353C>T IPNMDB_28 alias Thr118Met IPNMDB_854 phenoCommon CMT2 IPNMDB_854 commonName c.[353C>T]+[353C>T] IPNMDB_854 alias [Thr118Met]+[Thr118Met] IPNMDB_508 phenoCommon HNPP IPNMDB_508 commonName c.364_365delCC IPNMDB_508 alias Pro122fs IPNMDB_419 phenoCommon HNPP IPNMDB_419 commonName c.372G>A IPNMDB_419 alias Trp124X IPNMDB_37 phenoCommon - (polymorphism) IPNMDB_37 commonName c.409A>G IPNMDB_37 alias Ile137Val IPNMDB_778 phenoCommon HNPP IPNMDB_778 commonName c.433_434insC IPNMDB_778 alias Leu145fs IPNMDB_420 phenoCommon HNPP IPNMDB_420 commonName c.434delT IPNMDB_420 alias Leu145fs IPNMDB_29 phenoCommon CMT1 IPNMDB_29 commonName c.440T>G IPNMDB_29 alias Leu147Arg IPNMDB_428 phenoCommon DSS IPNMDB_428 commonName c.447C>A IPNMDB_428 alias Ser149Arg IPNMDB_31 phenoCommon DSS IPNMDB_31 commonName c.448G>T IPNMDB_31 alias Gly150Cys IPNMDB_30 phenoCommon DSS IPNMDB_30 commonName c.449G>A IPNMDB_30 alias Gly150Asp IPNMDB_623 phenoCommon - (polymorphism) IPNMDB_623 commonName c.468G>A IPNMDB_623 alias Leu156Leu IPNMDB_32 phenoCommon DSS IPNMDB_32 commonName c.[469C>T]+[469C>T] IPNMDB_32 alias [Arg157Trp]+[Arg157Trp] IPNMDB_625 phenoCommon - (polymorphism) IPNMDB_625 commonName c.499T>A IPNMDB_937 phenoCommon CMTX5 IPNMDB_937 commonName c.129A>C IPNMDB_937 alias Glu43Asp IPNMDB_936 phenoCommon CMTX5 IPNMDB_936 commonName c.344T>C IPNMDB_936 alias Met115Thr IPNMDB_878 phenoCommon CMT1 IPNMDB_878 commonName c.[176T>C]+[2145T>A] IPNMDB_878 alias [Leu59Pro]+[Cys715X] IPNMDB_571 phenoCommon DSS IPNMDB_571 commonName c.[247delC]+[247delC] IPNMDB_571 alias [Arg82fs]+[Arg82fs] IPNMDB_529 phenoCommon - (polymorphism) IPNMDB_529 commonName c.306C>T IPNMDB_529 alias Thr102Thr IPNMDB_855 phenoCommon CMT1 IPNMDB_855 commonName c.[385_394dupATCCAGAGTC]+[3208C>T] IPNMDB_855 alias [Leu132fs]+[Arg1070X] IPNMDB_515 phenoCommon CMT4F IPNMDB_515 commonName c.[586C>T]+[586C>T] IPNMDB_515 alias [Arg196X]+[Arg196X] IPNMDB_517 phenoCommon DSS IPNMDB_517 commonName c.[1102C>T]+[2289delT] IPNMDB_517 alias [Arg368X]+[Val763fs] IPNMDB_811 phenoCommon CMT4F IPNMDB_811 commonName c.[1194_1197delTTCC]+[1194_1197delTTCC] IPNMDB_811 alias Ser399fs IPNMDB_522 phenoCommon - (polymorphism) IPNMDB_522 commonName c.1216G>A IPNMDB_522 alias Ala406Thr IPNMDB_524 phenoCommon - (polymorphism) IPNMDB_524 commonName c.1483G>C IPNMDB_524 alias Glu495Gln IPNMDB_530 phenoCommon - (polymorphism) IPNMDB_530 commonName c.1491C>G IPNMDB_530 alias Pro497Pro IPNMDB_570 phenoCommon CMT1 IPNMDB_570 commonName c.[2145T>A]+[2145T>A] IPNMDB_570 alias [Cys715X]+[Cys715X] IPNMDB_528 phenoCommon - (polymorphism) IPNMDB_528 commonName c.2645T>G IPNMDB_528 alias Val882Ala IPNMDB_531 phenoCommon - (polymorphism) IPNMDB_531 commonName c.2655T>C IPNMDB_531 alias Pro885Pro IPNMDB_527 phenoCommon - (polymorphism) IPNMDB_527 commonName c.2763A>G IPNMDB_527 alias Ile921Met IPNMDB_518 phenoCommon DSS IPNMDB_518 commonName c.[2787delC]+[2787delC] IPNMDB_518 alias [Ser929fs]+[Ser929fs] IPNMDB_516 phenoCommon DSS IPNMDB_516 commonName c.[2787delC]+[2857C>T] IPNMDB_516 alias [Ser929fs]+[Arg953X] IPNMDB_701 phenoCommon CMT1 IPNMDB_701 commonName c.[3208C>T]+[3208C>T] IPNMDB_701 alias [Arg1070X]+[Arg1070X] IPNMDB_526 phenoCommon - (polymorphism) IPNMDB_526 commonName c.3248C>G IPNMDB_526 alias Pro1083Arg IPNMDB_525 phenoCommon - (polymorphism) IPNMDB_525 commonName c.3394G>A IPNMDB_525 alias Gly1132Arg IPNMDB_521 phenoCommon - (polymorphism) IPNMDB_521 commonName c.3775G>A IPNMDB_521 alias Glu1259Lys IPNMDB_523 phenoCommon - (polymorphism) IPNMDB_523 commonName c.4075_4077delGAG IPNMDB_523 alias Glu1359del IPNMDB_636 phenoCommon CMT2B IPNMDB_636 commonName c.385C>T IPNMDB_636 alias Leu129Phe IPNMDB_852 phenoCommon CMT2B IPNMDB_852 commonName c.471G>C IPNMDB_852 alias Lys157Asn IPNMDB_733 phenoCommon CMT2B IPNMDB_733 commonName c.482A>C IPNMDB_733 alias Asn161Thr IPNMDB_637 phenoCommon CMT2B IPNMDB_637 commonName c.484G>A IPNMDB_637 alias Val162Met IPNMDB_698 phenoCommon CMT4B2 and juvenile onset glaucoma IPNMDB_698 commonName c.[1459C>T]+[1459C>T] IPNMDB_698 alias [Arg487X]+[Arg487X] IPNMDB_653 phenoCommon CMT4B2 and early onset glaucoma IPNMDB_653 commonName c.[2875C>T]+[2875C>T] IPNMDB_653 alias [Gln956X]+[Gln956X] IPNMDB_654 phenoCommon CMT4B2 and early onset glaucoma IPNMDB_654 commonName c.[3586C>T]+[3586C>T] IPNMDB_654 alias [Arg1196X]+[Arg1196X] IPNMDB_749 phenoCommon CMT4B2 IPNMDB_749 commonName c.[4443+1G>C]+[4443+1G>C] IPNMDB_749 alias [5'-splice site]+[5'-splice site] IPNMDB_782 phenoCommon HNA IPNMDB_782 commonName c.262C>T IPNMDB_782 alias Arg88Trp IPNMDB_783 phenoCommon HNA + dysmorphic features IPNMDB_783 commonName c.278C>T IPNMDB_783 alias Ser93Phe IPNMDB_96 phenoCommon CMT4 IPNMDB_96 commonName c.[26delG]+[26delG] IPNMDB_96 alias [Arg9fs]+[Arg9fs] IPNMDB_866 phenoCommon CMT4 IPNMDB_866 commonName c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG] IPNMDB_866 alias [Ala73fs]+[Glu731fs] IPNMDB_101 phenoCommon CMT4 IPNMDB_101 commonName c.[530-2A>G]+[530-2A>G] IPNMDB_101 alias [5'-splice site]+[5'-splice site] IPNMDB_867 phenoCommon CMT4 IPNMDB_867 commonName c.[920G>A]+[3326G>C] IPNMDB_867 alias [Trp307X]+[Arg1109Pro] IPNMDB_868 phenoCommon CMT4 IPNMDB_868 commonName c.[1171-1G>A]+[1171-1G>A] IPNMDB_868 alias [3'-splice site]+[3'-splice site] IPNMDB_278 phenoCommon CMT4 IPNMDB_278 commonName c.[1586G>A]+[1586G>A] IPNMDB_278 alias [Arg529Gln]+[Arg529Gln] IPNMDB_280 phenoCommon CMT4 IPNMDB_280 commonName c.[1747_1748delAG]+[1747_1748delAG] IPNMDB_280 alias [Arg583fs]+[Arg583fs] IPNMDB_285 phenoCommon CMT4 IPNMDB_285 commonName c.[1969G>A]+[1969G>A] IPNMDB_285 alias [Glu657Lys]+[Glu657Lys] IPNMDB_869 phenoCommon CMT4 IPNMDB_869 commonName c.[1972C>T]+[1972C>T] IPNMDB_869 alias [Arg658Cys]+[Arg658Cys] IPNMDB_355 phenoCommon CMT4 IPNMDB_355 commonName c.[1972C>T]+[2860C>T] IPNMDB_355 alias [Arg658Cys]+[Arg954X] IPNMDB_872 phenoCommon CMT4 IPNMDB_872 commonName c.[1982T>C]+[2680C>T] IPNMDB_872 alias [Leu662Pro]+[Arg954X] IPNMDB_356 phenoCommon CMT4 IPNMDB_356 commonName c.[2491_2492delAG]+[2491_2492delAG] IPNMDB_356 alias [Ser831fs]+[Ser831fs] IPNMDB_871 phenoCommon CMT4 IPNMDB_871 commonName c.[2642A>T]+[2860C>T] IPNMDB_871 alias [Asn881Ser]+[Arg954X] IPNMDB_870 phenoCommon CMT4 IPNMDB_870 commonName c.[2710C>T]+[2710C>T] IPNMDB_870 alias [Arg904X]+[Arg904X] IPNMDB_357 phenoCommon CMT4 IPNMDB_357 commonName c.[2829T>G]+[2860C>T] IPNMDB_357 alias [Tyr943X]+[Arg954X] IPNMDB_865 phenoCommon CMT4 IPNMDB_865 commonName c.[2860C>T]+[2860C>T] IPNMDB_865 alias [Arg954X]+[Arg954X] IPNMDB_358 phenoCommon CMT4 IPNMDB_358 commonName c.[2860C>T]+[3601C>T] IPNMDB_358 alias [Arg954X]+[Gln1201X] IPNMDB_830 phenoCommon CMT4 IPNMDB_830 commonName c.[3325C>T]+[3325C>T] IPNMDB_830 alias [Arg1109X]+[Arg1109X] IPNMDB_359 phenoCommon CMT4 IPNMDB_359 commonName c.[3341delC]+[3341delC] IPNMDB_359 alias [Pro1114fs]+[Pro1114fs] IPNMDB_647 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_647 commonName c.[2023C>T]+[2023C>T] IPNMDB_647 alias [Arg675X]+[Arg675X] IPNMDB_644 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_644 commonName c.[2436delG]+[2436delG] IPNMDB_644 alias [Thr813fs]+[Thr813fs] IPNMDB_645 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_645 commonName c.[2436delG]+[1584_1585delCTinsG] IPNMDB_645 alias [Thr813fs]+[Phe529fs] IPNMDB_921 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_921 commonName c.[2995_3004delCAGATGCTCC]+[2995_3004delCAGATGCTCC] IPNMDB_921 alias [Gln999fs]+[Gln999fs] IPNMDB_646 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_646 commonName c.[3031C>T]+[3031C>T] IPNMDB_646 alias [Arg1011X]+[Arg1011X] IPNMDB_659 phenoCommon CH + Waardenburg-Hirschsprung IPNMDB_659 commonName c.748C>T IPNMDB_659 alias Gln250X IPNMDB_534 phenoCommon Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness IPNMDB_534 commonName c.795delG IPNMDB_534 alias Glu265fs IPNMDB_519 phenoCommon CMT1 (+ Pelizaeus-Merzbacher disease & Waardenburg-Hirschsprung) IPNMDB_519 commonName c.1400_1411delAAAGGGGGCCCT IPNMDB_519 alias X467del IPNMDB_509 phenoCommon HSN I IPNMDB_509 commonName c.398G>A IPNMDB_509 alias Cys133Tyr IPNMDB_510 phenoCommon HSN I IPNMDB_510 commonName c.399T>G IPNMDB_510 alias Cys133Trp IPNMDB_511 phenoCommon HSN I IPNMDB_511 commonName c.431T>A IPNMDB_511 alias Val144Asp IPNMDB_838 phenoCommon - (polymorphism) IPNMDB_838 commonName c.452G>T IPNMDB_838 alias Arg151Leu IPNMDB_675 phenoCommon HSN I IPNMDB_675 commonName c.1160G>C IPNMDB_675 alias Gly387Ala IPNMDB_801 phenoCommon CMT1/2 IPNMDB_801 commonName c.121G>A IPNMDB_801 alias Gly41Arg IPNMDB_803 phenoCommon CMT1/2 IPNMDB_803 commonName c.458_469delTAAAGCAGGTGG IPNMDB_803 alias Val153_Val156del IPNMDB_802 phenoCommon CMT1/2 IPNMDB_802 commonName c.586G>A IPNMDB_802 alias Glu196Lys KinMutBase_TGFBR2_DNA:g.85628G>C protEffect R537P KinMutBase_TGFBR2_DNA:g.85628G>C mutType missense KinMutBase_TGFBR2_DNA:g.85594G>C protEffect E526Q KinMutBase_TGFBR2_DNA:g.85594G>C mutType missense KinMutBase_TGFBR2_DNA:g.68345A>G protEffect T458A KinMutBase_TGFBR2_DNA:g.68345A>G mutType missense KinMutBase_TGFBR2_DNA:g.66250C>T protEffect T315M KinMutBase_TGFBR2_DNA:g.66250C>T mutType missense KinMutBase_TGFBR2_DNA:g.66520A>G protEffect D405G KinMutBase_TGFBR2_DNA:g.66520A>G mutType missense KinMutBase_RPS6KA3_DNA:g.79710T>G protEffect S227A KinMutBase_RPS6KA3_DNA:g.79710T>G mutType missense KinMutBase_RPS6KA3_DNA:g.58326G>T protEffect G75V KinMutBase_RPS6KA3_DNA:g.58326G>T mutType missense KinMutBase_RPS6KA3_DNA:g.105964G>A protEffect W645X KinMutBase_RPS6KA3_DNA:g.105964G>A mutType nonsense KinMutBase_RPS6KA3_DNA:g.63530G>T protEffect V82F KinMutBase_RPS6KA3_DNA:g.63530G>T mutType missense KinMutBase_RPS6KA3_DNA:g.102642C>T protEffect R558X KinMutBase_RPS6KA3_DNA:g.102642C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.99982C>T protEffect R514X KinMutBase_RPS6KA3_DNA:g.99982C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.90616C>T protEffect R305X KinMutBase_RPS6KA3_DNA:g.90616C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.81309C>T protEffect R273X KinMutBase_RPS6KA3_DNA:g.81309C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.72496C>T protEffect R112X KinMutBase_RPS6KA3_DNA:g.72496C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.72490C>T protEffect R110X KinMutBase_RPS6KA3_DNA:g.72490C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.63582delT protEffect M99X102 KinMutBase_RPS6KA3_DNA:g.63582delT mutType frameshift KinMutBase_RPS6KA3_DNA:g.63548delA protEffect I88X99 KinMutBase_RPS6KA3_DNA:g.63548delA mutType frameshift KinMutBase_RPS6KA3_DNA:g.72543T>G protEffect H127Q KinMutBase_RPS6KA3_DNA:g.72543T>G mutType missense KinMutBase_RPS6KA3_DNA:g.94826G>A protEffect G431D KinMutBase_RPS6KA3_DNA:g.94826G>A mutType missense KinMutBase_RPS6KA3_DNA:g.73418G>T protEffect D154Y KinMutBase_RPS6KA3_DNA:g.73418G>T mutType missense KinMutBase_RPS6KA3_DNA:g.79705C>T protEffect A225V KinMutBase_RPS6KA3_DNA:g.79705C>T mutType missense KinMutBase_RET_DNA:g.43492A>G protEffect Y806C KinMutBase_RET_DNA:g.43492A>G mutType missense KinMutBase_RET_DNA:g.42397A>T protEffect Y791F KinMutBase_RET_DNA:g.42397A>T mutType missense KinMutBase_RET_DNA:g.44081T>G protEffect S891A KinMutBase_RET_DNA:g.44081T>G mutType missense KinMutBase_RET_DNA:g.42321C>T protEffect P766S KinMutBase_RET_DNA:g.42321C>T mutType missense KinMutBase_RET_DNA:g.42395G>T protEffect L790F KinMutBase_RET_DNA:g.42395G>T mutType missense KinMutBase_RET_DNA:g.42395G>C protEffect L790F KinMutBase_RET_DNA:g.42395G>C mutType missense KinMutBase_RET_DNA:g.45908C>T protEffect A919V KinMutBase_RET_DNA:g.45908C>T mutType missense KinMutBase_RET_DNA:g.47631G>A protEffect W942X KinMutBase_RET_DNA:g.47631G>A mutType nonsense KinMutBase_RET_DNA:g.43485G>A protEffect V804M KinMutBase_RET_DNA:g.43485G>A mutType missense KinMutBase_RET_DNA:g.43485G>T protEffect V804L KinMutBase_RET_DNA:g.43485G>T mutType missense KinMutBase_RET_DNA:g.45917C>A protEffect S922Y KinMutBase_RET_DNA:g.45917C>A mutType missense KinMutBase_RET_DNA:g.42318T>C protEffect S765P KinMutBase_RET_DNA:g.42318T>C mutType missense KinMutBase_RET_DNA:g.47720A>G protEffect R972G KinMutBase_RET_DNA:g.47720A>G mutType missense KinMutBase_RET_DNA:g.44100G>A protEffect R897Q KinMutBase_RET_DNA:g.44100G>A mutType missense KinMutBase_RET_DNA:g.47724C>T protEffect P973L KinMutBase_RET_DNA:g.47724C>T mutType missense KinMutBase_RET_DNA:g.45905T>C protEffect M918T KinMutBase_RET_DNA:g.45905T>C mutType missense KinMutBase_RET_DNA:g.45913G>T protEffect E921X KinMutBase_RET_DNA:g.45913G>T mutType nonsense KinMutBase_RET_DNA:g.42329G>C protEffect E768D KinMutBase_RET_DNA:g.42329G>C mutType missense KinMutBase_RET_DNA:g.40668G>C protEffect E762Q KinMutBase_RET_DNA:g.40668G>C mutType missense KinMutBase_STK11_DNA:g.15407delC protEffect P281X286 KinMutBase_STK11_DNA:g.15407delC mutType frameshift KinMutBase_STK11_DNA:g.15407C>T protEffect P281L KinMutBase_STK11_DNA:g.15407C>T mutType missense KinMutBase_STK11_DNA:g.15304delA protEffect N247X286 KinMutBase_STK11_DNA:g.15304delA mutType frameshift KinMutBase_STK11_DNA:g.15300delC protEffect L245X286 KinMutBase_STK11_DNA:g.15300delC mutType frameshift KinMutBase_STK11_DNA:g.13454delC protEffect 140_140delins21 KinMutBase_STK11_DNA:g.13454delC mutType frameshift KinMutBase_STK11_DNA:g.14714G>A protEffect G215D KinMutBase_STK11_DNA:g.14714G>A mutType missense KinMutBase_STK11_DNA:g.14506G>A protEffect G171S KinMutBase_STK11_DNA:g.14506G>A mutType missense KinMutBase_STK11_DNA:g.14590G>A protEffect E199K KinMutBase_STK11_DNA:g.14590G>A mutType missense KinMutBase_STK11_DNA:g.14692G>A protEffect D208N KinMutBase_STK11_DNA:g.14692G>A mutType missense KinMutBase_STK11_DNA:g.1180C>G protEffect Y60X KinMutBase_STK11_DNA:g.1180C>G mutType nonsense KinMutBase_STK11_DNA:g.15324C>A protEffect Y253X KinMutBase_STK11_DNA:g.15324C>A mutType nonsense KinMutBase_STK11_DNA:g.14786delG protEffect W239X286 KinMutBase_STK11_DNA:g.14786delG mutType frameshift KinMutBase_STK11_DNA:g.14503C>T protEffect Q170X KinMutBase_STK11_DNA:g.14503C>T mutType nonsense KinMutBase_STK11_DNA:g.15408delG protEffect P281X286 KinMutBase_STK11_DNA:g.15408delG mutType frameshift KinMutBase_STK11_DNA:g.1200T>C protEffect L67P KinMutBase_STK11_DNA:g.1200T>C mutType missense KinMutBase_STK11_DNA:g.1250A>T protEffect K84X KinMutBase_STK11_DNA:g.1250A>T mutType nonsense KinMutBase_STK11_DNA:g.16081delT protEffect I303X335 KinMutBase_STK11_DNA:g.16081delT mutType frameshift KinMutBase_STK11_DNA:g.14483G>A protEffect G163D KinMutBase_STK11_DNA:g.14483G>A mutType missense KinMutBase_STK11_DNA:g.1208G>T protEffect E70X KinMutBase_STK11_DNA:g.1208G>T mutType nonsense KinMutBase_STK11_DNA:g.1169G>T protEffect E57X KinMutBase_STK11_DNA:g.1169G>T mutType nonsense KinMutBase_STK11_DNA:g.14575G>T protEffect D194Y KinMutBase_STK11_DNA:g.14575G>T mutType missense KinMutBase_TEK_DNA:g.49939C>T protEffect R849W KinMutBase_TEK_DNA:g.49939C>T mutType missense KinMutBase_PAK3_DNA:g.74385C>T protEffect R419X KinMutBase_PAK3_DNA:g.74385C>T mutType nonsense KinMutBase_NTRK1_DNA:g.19327C>T protEffect R643W KinMutBase_NTRK1_DNA:g.19327C>T mutType missense KinMutBase_NTRK1_DNA:g.16493delC protEffect R548X651 KinMutBase_NTRK1_DNA:g.16493delC mutType frameshift KinMutBase_NTRK1_DNA:g.16592A>G protEffect M581V KinMutBase_NTRK1_DNA:g.16592A>G mutType missense KinMutBase_NTRK1_DNA:g.19192C>T protEffect H598Y KinMutBase_NTRK1_DNA:g.19192C>T mutType missense KinMutBase_NTRK1_DNA:g.20158G>A protEffect G708S KinMutBase_NTRK1_DNA:g.20158G>A mutType missense KinMutBase_NTRK1_DNA:g.19220G>T protEffect G607V KinMutBase_NTRK1_DNA:g.19220G>T mutType missense KinMutBase_NTRK1_DNA:g.16562G>C protEffect G571R KinMutBase_NTRK1_DNA:g.16562G>C mutType missense KinMutBase_MET_DNA:g.111955T>C protEffect Y1230H KinMutBase_MET_DNA:g.111955T>C mutType missense KinMutBase_MET_DNA:g.111956A>G protEffect Y1230C KinMutBase_MET_DNA:g.111956A>G mutType missense KinMutBase_MET_DNA:g.111925G>A protEffect V1220I KinMutBase_MET_DNA:g.111925G>A mutType missense KinMutBase_MET_DNA:g.110623G>T protEffect V1188L KinMutBase_MET_DNA:g.110623G>T mutType missense KinMutBase_MET_DNA:g.112016T>C protEffect M1250T KinMutBase_MET_DNA:g.112016T>C mutType missense KinMutBase_MET_DNA:g.107423T>C protEffect M1131T KinMutBase_MET_DNA:g.107423T>C mutType missense KinMutBase_MET_DNA:g.110644C>G protEffect L1195V KinMutBase_MET_DNA:g.110644C>G mutType missense KinMutBase_MET_DNA:g.111949G>A protEffect D1228N KinMutBase_MET_DNA:g.111949G>A mutType missense KinMutBase_MET_DNA:g.111949G>C protEffect D1228H KinMutBase_MET_DNA:g.111949G>C mutType missense KinMutBase_KIT_DNA:g.71041delA protEffect K642X644 KinMutBase_KIT_DNA:g.71041delA mutType frameshift KinMutBase_KIT_DNA:g.71065A>C protEffect H650P KinMutBase_KIT_DNA:g.71065A>C mutType missense KinMutBase_KIT_DNA:g.71006delT protEffect H630X631 KinMutBase_KIT_DNA:g.71006delT mutType frameshift KinMutBase_KIT_DNA:g.71006T>A protEffect H630Q KinMutBase_KIT_DNA:g.71006T>A mutType missense KinMutBase_KIT_DNA:g.71106G>A protEffect G664R KinMutBase_KIT_DNA:g.71106G>A mutType missense KinMutBase_KIT_DNA:g.79580A>C protEffect E861A KinMutBase_KIT_DNA:g.79580A>C mutType missense KinMutBase_KIT_DNA:g.76152A>G protEffect D820G KinMutBase_KIT_DNA:g.76152A>G mutType missense KinMutBase_KIT_DNA:g.76140A>T protEffect D816V KinMutBase_KIT_DNA:g.76140A>T mutType missense KinMutBase_KIT_DNA:g.70894G>A protEffect A621T KinMutBase_KIT_DNA:g.70894G>A mutType missense KinMutBase_ACVRL1_DNA:g.4745G>A protEffect R411Q KinMutBase_ACVRL1_DNA:g.4745G>A mutType missense KinMutBase_ACVRL1_DNA:g.4633C>T protEffect R374W KinMutBase_ACVRL1_DNA:g.4633C>T mutType missense KinMutBase_ACVRL1_DNA:g.7534C>A protEffect P424T KinMutBase_ACVRL1_DNA:g.7534C>A mutType missense KinMutBase_ACVRL1_DNA:g.4640T>G protEffect M376R KinMutBase_ACVRL1_DNA:g.4640T>G mutType missense KinMutBase_INSR_DNA:g.175329G>C protEffect W1227S KinMutBase_INSR_DNA:g.175329G>C mutType missense KinMutBase_INSR_DNA:g.174272G>T protEffect W1220L KinMutBase_INSR_DNA:g.174272G>T mutType missense KinMutBase_INSR_DNA:g.174215G>A protEffect R1201Q KinMutBase_INSR_DNA:g.174215G>A mutType missense KinMutBase_INSR_DNA:g.174185G>A protEffect R1191Q KinMutBase_INSR_DNA:g.174185G>A mutType missense KinMutBase_INSR_DNA:g.172222G>A protEffect R1158Q KinMutBase_INSR_DNA:g.172222G>A mutType missense KinMutBase_INSR_DNA:g.174227C>T protEffect P1205L KinMutBase_INSR_DNA:g.174227C>T mutType missense KinMutBase_INSR_DNA:g.174153G>A protEffect M1180I KinMutBase_INSR_DNA:g.174153G>A mutType missense KinMutBase_INSR_DNA:g.172157delG protEffect M1136X1150 KinMutBase_INSR_DNA:g.172157delG mutType frameshift KinMutBase_INSR_DNA:g.171927A>G protEffect K1095E KinMutBase_INSR_DNA:g.171927A>G mutType missense KinMutBase_INSR_DNA:g.174231G>C protEffect E1206D KinMutBase_INSR_DNA:g.174231G>C mutType missense KinMutBase_INSR_DNA:g.172234C>A protEffect A1162E KinMutBase_INSR_DNA:g.172234C>A mutType missense KinMutBase_INSR_DNA:g.172230G>A protEffect A1161T KinMutBase_INSR_DNA:g.172230G>A mutType missense KinMutBase_INSR_DNA:g.169575C>A protEffect A1075D KinMutBase_INSR_DNA:g.169575C>A mutType missense KinMutBase_FGFR3_DNA:g.12748A>C protEffect N540T KinMutBase_FGFR3_DNA:g.12748A>C mutType missense KinMutBase_FGFR3_DNA:g.12749C>G protEffect N540K KinMutBase_FGFR3_DNA:g.12749C>G mutType missense KinMutBase_FGFR3_DNA:g.12749C>A protEffect N540K KinMutBase_FGFR3_DNA:g.12749C>A mutType missense KinMutBase_FGFR3_DNA:g.13268A>T protEffect K650M KinMutBase_FGFR3_DNA:g.13268A>T mutType missense KinMutBase_FGFR3_DNA:g.13267A>G protEffect K650E KinMutBase_FGFR3_DNA:g.13267A>G mutType missense KinMutBase_FGFR3_DNA:g.12741A>G protEffect I538V KinMutBase_FGFR3_DNA:g.12741A>G mutType missense KinMutBase_CDK4_DNA:g.1072G>A protEffect R24H KinMutBase_CDK4_DNA:g.1072G>A mutType missense KinMutBase_CDK4_DNA:g.1071C>T protEffect R24C KinMutBase_CDK4_DNA:g.1071C>T mutType missense KinMutBase_CDK4_DNA:g.1123A>G protEffect N41S KinMutBase_CDK4_DNA:g.1123A>G mutType missense KinMutBase_ZAP70_DNA:g.14792C>A protEffect S518R KinMutBase_ZAP70_DNA:g.14792C>A mutType missense KinMutBase_ZAP70_DNA:g.14959A>A protEffect K542K KinMutBase_ZAP70_DNA:g.14959A>A mutType missense KinMutBase_ZAP70_DNA:g.14758C>T protEffect A507V KinMutBase_ZAP70_DNA:g.14758C>T mutType missense KinMutBase_ZAP70_DNA:g.15049A>T protEffect M572L KinMutBase_ZAP70_DNA:g.15049A>T mutType missense KinMutBase_ZAP70_DNA:g.14748delA protEffect K504X543 KinMutBase_ZAP70_DNA:g.14748delA mutType frameshift KinMutBase_ZAP70_DNA:g.14948G>A protEffect 541_542insLEQ KinMutBase_ZAP70_DNA:g.14948G>A mutType inframe KinMutBase_ZAP70_DNA:g.14540C>T protEffect R465C KinMutBase_ZAP70_DNA:g.14540C>T mutType missense KinMutBase_U78027.1:g.68190A>C protEffect T606P KinMutBase_U78027.1:g.68190A>C mutType missense KinMutBase_U78027.1:g.64518A>T protEffect 384_384delins91 KinMutBase_U78027.1:g.64518A>T mutType loss KinMutBase_U78027.1:g.66839T>C protEffect L542P KinMutBase_U78027.1:g.66839T>C mutType missense KinMutBase_U78027.1:g.71555T>C protEffect L648P KinMutBase_U78027.1:g.71555T>C mutType missense KinMutBase_U78027.1:g.65416G>A protEffect R520Q KinMutBase_U78027.1:g.65416G>A mutType missense KinMutBase_U78027.1:g.67537T>A protEffect V561D KinMutBase_U78027.1:g.67537T>A mutType missense KinMutBase_U78027.1:g.65232C>T protEffect Q459X KinMutBase_U78027.1:g.65232C>T mutType nonsense KinMutBase_U78027.1:g.68280G>T protEffect E636X KinMutBase_U78027.1:g.68280G>T mutType nonsense KinMutBase_U78027.1:g.67527A>T protEffect K558X KinMutBase_U78027.1:g.67527A>T mutType nonsense KinMutBase_U78027.1:g.66788G>A protEffect R525Q KinMutBase_U78027.1:g.66788G>A mutType missense KinMutBase_U78027.1:g.65390C>A protEffect Y511X KinMutBase_U78027.1:g.65390C>A mutType nonsense KinMutBase_U78027.1:g.65382A>G protEffect M509V KinMutBase_U78027.1:g.65382A>G mutType missense KinMutBase_U78027.1:g.67605G>T protEffect G584W KinMutBase_U78027.1:g.67605G>T mutType missense KinMutBase_U78027.1:g.65242G>A protEffect G462D KinMutBase_U78027.1:g.65242G>A mutType missense KinMutBase_U78027.1:g.65236T>A protEffect L460X KinMutBase_U78027.1:g.65236T>A mutType nonsense KinMutBase_U78027.1:g.68166T>G protEffect Y598D KinMutBase_U78027.1:g.68166T>G mutType missense KinMutBase_U78027.1:g.68184delA protEffect S604X648 KinMutBase_U78027.1:g.68184delA mutType frameshift KinMutBase_U78027.1:g.68155G>A protEffect G594E KinMutBase_U78027.1:g.68155G>A mutType missense KinMutBase_U78027.1:g.65363C>G protEffect C502W KinMutBase_U78027.1:g.65363C>G mutType missense KinMutBase_U78027.1:g.67570_67571insT protEffect S572X579 KinMutBase_U78027.1:g.67570_67571insT mutType frameshift KinMutBase_U78027.1:g.63920dupG protEffect 378_378delins21 KinMutBase_U78027.1:g.63920dupG mutType frameshift KinMutBase_U78027.1:g.67600C>T protEffect A582V KinMutBase_U78027.1:g.67600C>T mutType missense KinMutBase_U78027.1:g.68229C>A protEffect P619T KinMutBase_U78027.1:g.68229C>A mutType missense KinMutBase_U78027.1:g.68242C>T protEffect S623L KinMutBase_U78027.1:g.68242C>T mutType missense KinMutBase_U78027.1:g.65374G>A protEffect C506Y KinMutBase_U78027.1:g.65374G>A mutType missense KinMutBase_U78027.1:g.64617C>A protEffect Y425X KinMutBase_U78027.1:g.64617C>A mutType nonsense KinMutBase_U78027.1:g.66793T>A protEffect C527S KinMutBase_U78027.1:g.66793T>A mutType missense KinMutBase_U78027.1:g.66795delT protEffect C527X529 KinMutBase_U78027.1:g.66795delT mutType frameshift KinMutBase_U78027.1:g.65283T>G protEffect Y476D KinMutBase_U78027.1:g.65283T>G mutType missense KinMutBase_U78027.1:g.65253A>T protEffect K466X KinMutBase_U78027.1:g.65253A>T mutType nonsense KinMutBase_U78027.1:g.65213delT protEffect L452X483 KinMutBase_U78027.1:g.65213delT mutType frameshift KinMutBase_U78027.1:g.64605G>A protEffect W421X KinMutBase_U78027.1:g.64605G>A mutType nonsense KinMutBase_U78027.1:g.68212G>A protEffect G613D KinMutBase_U78027.1:g.68212G>A mutType missense KinMutBase_U78027.1:g.65218A>G protEffect H454R KinMutBase_U78027.1:g.65218A>G mutType missense KinMutBase_U78027.1:g.66769_66772delTTTG protEffect A523X527 KinMutBase_U78027.1:g.66769_66772delTTTG mutType loss KinMutBase_U78027.1:g.65388_65389insG protEffect Y511X KinMutBase_U78027.1:g.65388_65389insG mutType nonsense KinMutBase_U78027.1:g.67566delT protEffect Y571X586 KinMutBase_U78027.1:g.67566delT mutType frameshift KinMutBase_U78027.1:g.67554G>A protEffect E567K KinMutBase_U78027.1:g.67554G>A mutType missense KinMutBase_U78027.1:g.68220C>T protEffect L616F KinMutBase_U78027.1:g.68220C>T mutType missense KinMutBase_U78027.1:g.67539C>T protEffect R562W KinMutBase_U78027.1:g.67539C>T mutType missense KinMutBase_U78027.1:g.66781delG protEffect A523X529 KinMutBase_U78027.1:g.66781delG mutType frameshift KinMutBase_U78027.1:g.68261_68262insT protEffect M630X636 KinMutBase_U78027.1:g.68261_68262insT mutType frameshift KinMutBase_U78027.1:g.65242G>T protEffect G462V KinMutBase_U78027.1:g.65242G>T mutType missense KinMutBase_U78027.1:g.68194C>A protEffect A607D KinMutBase_U78027.1:g.68194C>A mutType missense KinMutBase_U78027.1:g.65392T>C protEffect L512P KinMutBase_U78027.1:g.65392T>C mutType missense KinMutBase_U78027.1:g.66787C>T protEffect R525X KinMutBase_U78027.1:g.66787C>T mutType nonsense KinMutBase_U78027.1:g.67600delC protEffect A582X586 KinMutBase_U78027.1:g.67600delC mutType frameshift KinMutBase_U78027.1:g.63962A>G protEffect G391G KinMutBase_U78027.1:g.63962A>G mutType missense KinMutBase_U78027.1:g.65373T>C protEffect C506R KinMutBase_U78027.1:g.65373T>C mutType missense KinMutBase_U78027.1:g.65368A>T protEffect D504V KinMutBase_U78027.1:g.65368A>T mutType missense KinMutBase_U78027.1:g.71534G>A protEffect R641H KinMutBase_U78027.1:g.71534G>A mutType missense KinMutBase_U78027.1:g.68258C>T protEffect T628T KinMutBase_U78027.1:g.68258C>T mutType missense KinMutBase_U78027.1:g.68266delA protEffect Y631X648 KinMutBase_U78027.1:g.68266delA mutType frameshift KinMutBase_U78027.1:g.68275G>C protEffect W634S KinMutBase_U78027.1:g.68275G>C mutType missense KinMutBase_U78027.1:g.68140A>G protEffect E589G KinMutBase_U78027.1:g.68140A>G mutType missense KinMutBase_U78027.1:g.67603T>C protEffect F583S KinMutBase_U78027.1:g.67603T>C mutType missense KinMutBase_U78027.1:g.65212T>C protEffect L452P KinMutBase_U78027.1:g.65212T>C mutType missense KinMutBase_U78027.1:g.63968delT protEffect G393X409 KinMutBase_U78027.1:g.63968delT mutType gain KinMutBase_U78027.1:g.68167A>G protEffect Y598C KinMutBase_U78027.1:g.68167A>G mutType missense KinMutBase_U78027.1:g.64569dupG protEffect T410X439 KinMutBase_U78027.1:g.64569dupG mutType frameshift KinMutBase_U78027.1:g.66794G>T protEffect C527F KinMutBase_U78027.1:g.66794G>T mutType missense KinMutBase_U78027.1:g.64663G>T protEffect E441X KinMutBase_U78027.1:g.64663G>T mutType nonsense KinMutBase_U78027.1:g.66802delA protEffect N530X555 KinMutBase_U78027.1:g.66802delA mutType frameshift KinMutBase_U78027.1:g.67598G>A protEffect W581X KinMutBase_U78027.1:g.67598G>A mutType nonsense KinMutBase_U78027.1:g.65374G>T protEffect C506F KinMutBase_U78027.1:g.65374G>T mutType missense KinMutBase_U78027.1:g.67548C>A protEffect P565T KinMutBase_U78027.1:g.67548C>A mutType missense KinMutBase_U78027.1:g.64630A>G protEffect K430E KinMutBase_U78027.1:g.64630A>G mutType missense KinMutBase_U78027.1:g.68137G>A protEffect W588X KinMutBase_U78027.1:g.68137G>A mutType nonsense KinMutBase_U78027.1:g.65384G>A protEffect M509I KinMutBase_U78027.1:g.65384G>A mutType missense KinMutBase_U78027.1:g.66846G>C protEffect R544X545 KinMutBase_U78027.1:g.66846G>C mutType gain KinMutBase_U78027.1:g.68154G>C protEffect G594R KinMutBase_U78027.1:g.68154G>C mutType missense KinMutBase_U78027.1:g.71520_71521insT protEffect K637X KinMutBase_U78027.1:g.71520_71521insT mutType nonsense KinMutBase_U78027.1:g.71544C>A protEffect F644L KinMutBase_U78027.1:g.71544C>A mutType missense KinMutBase_U78027.1:g.65415C>T protEffect R520X KinMutBase_U78027.1:g.65415C>T mutType nonsense KinMutBase_U78027.1:g.67531T>C protEffect F559S KinMutBase_U78027.1:g.67531T>C mutType missense KinMutBase_U78027.1:g.68229C>T protEffect P619S KinMutBase_U78027.1:g.68229C>T mutType missense KinMutBase_U78027.1:g.67487G>T protEffect R544S KinMutBase_U78027.1:g.67487G>T mutType missense KinMutBase_U78027.1:g.66792C>G protEffect N526K KinMutBase_U78027.1:g.66792C>G mutType missense KinMutBase_U78027.1:g.71552T>G protEffect L647R KinMutBase_U78027.1:g.71552T>G mutType missense KinMutBase_U78027.1:g.63965C>A protEffect Y392X KinMutBase_U78027.1:g.63965C>A mutType nonsense KinMutBase_U78027.1:g.71537delC protEffect P642X648 KinMutBase_U78027.1:g.71537delC mutType frameshift KinMutBase_U78027.1:g.67516C>G protEffect S554X KinMutBase_U78027.1:g.67516C>G mutType nonsense KinMutBase_U78027.1:g.68263T>A protEffect M630K KinMutBase_U78027.1:g.68263T>A mutType missense KinMutBase_U78027.1:g.68208delC protEffect Q612X648 KinMutBase_U78027.1:g.68208delC mutType frameshift KinMutBase_U78027.1:g.68268delA protEffect S632X648 KinMutBase_U78027.1:g.68268delA mutType frameshift KinMutBase_U78027.1:g.64630delA protEffect K430X431 KinMutBase_U78027.1:g.64630delA mutType frameshift KinMutBase_U78027.1:g.67540G>C protEffect R562P KinMutBase_U78027.1:g.67540G>C mutType missense KinMutBase_U78027.1:g.68134T>C protEffect M587T KinMutBase_U78027.1:g.68134T>C mutType missense KinMutBase_U78027.1:g.66793delT protEffect C527X529 KinMutBase_U78027.1:g.66793delT mutType frameshift KinMutBase_U78027.1:g.68238G>C protEffect A622P KinMutBase_U78027.1:g.68238G>C mutType missense KinMutBase_U78027.1:g.68186_68187insG protEffect E605X608 KinMutBase_U78027.1:g.68186_68187insG mutType frameshift KinMutBase_U78027.1:g.63964dupA protEffect Y392X KinMutBase_U78027.1:g.63964dupA mutType nonsense KinMutBase_U78027.1:g.68172A>T protEffect R600X KinMutBase_U78027.1:g.68172A>T mutType nonsense KinMutBase_U78027.1:g.66779A>C protEffect A523X527 KinMutBase_U78027.1:g.66779A>C mutType deletion KinMutBase_U78027.1:g.66844A>G protEffect R544G KinMutBase_U78027.1:g.66844A>G mutType missense KinMutBase_U78027.1:g.68272G>A protEffect C633Y KinMutBase_U78027.1:g.68272G>A mutType missense KinMutBase_U78027.1:g.67543G>T protEffect W563L KinMutBase_U78027.1:g.67543G>T mutType missense KinMutBase_U78027.1:g.65418G>A protEffect D521N KinMutBase_U78027.1:g.65418G>A mutType missense KinMutBase_U78027.1:g.68255_68256insC protEffect T628X636 KinMutBase_U78027.1:g.68255_68256insC mutType frameshift KinMutBase_U78027.1:g.63945delT protEffect S386X402 KinMutBase_U78027.1:g.63945delT mutType frameshift KinMutBase_U78027.1:g.68163C>A protEffect P597T KinMutBase_U78027.1:g.68163C>A mutType missense KinMutBase_U78027.1:g.67543G>A protEffect W563X KinMutBase_U78027.1:g.67543G>A mutType nonsense KinMutBase_U78027.1:g.66782C>A protEffect A523E KinMutBase_U78027.1:g.66782C>A mutType missense KinMutBase_U78027.1:g.63920_63921ins6 protEffect S378X397 KinMutBase_U78027.1:g.63920_63921ins6 mutType frameshift KinMutBase_U78027.1:g.68223_68224insC protEffect Y617X636 KinMutBase_U78027.1:g.68223_68224insC mutType frameshift KinMutBase_U78027.1:g.66828delT protEffect S538X555 KinMutBase_U78027.1:g.66828delT mutType frameshift KinMutBase_U78027.1:g.65285delC protEffect Y476X KinMutBase_U78027.1:g.65285delC mutType nonsense KinMutBase_U78027.1:g.65382dupA protEffect M509X536 KinMutBase_U78027.1:g.65382dupA mutType frameshift KinMutBase_U78027.1:g.71564delT protEffect I651X652 KinMutBase_U78027.1:g.71564delT mutType frameshift KinMutBase_U78027.1:g.65419A>G protEffect D521G KinMutBase_U78027.1:g.65419A>G mutType missense KinMutBase_U78027.1:g.64565T>C protEffect L408P KinMutBase_U78027.1:g.64565T>C mutType missense KinMutBase_U78027.1:g.71567T>C protEffect L652P KinMutBase_U78027.1:g.71567T>C mutType missense KinMutBase_U78027.1:g.68208C>T protEffect Q612X KinMutBase_U78027.1:g.68208C>T mutType nonsense KinMutBase_U78027.1:g.66845G>A protEffect R544K KinMutBase_U78027.1:g.66845G>A mutType missense KinMutBase_U78027.1:g.71533C>T protEffect R641C KinMutBase_U78027.1:g.71533C>T mutType missense KinMutBase_U78027.1:g.68276G>A protEffect W634X KinMutBase_U78027.1:g.68276G>A mutType nonsense KinMutBase_U78027.1:g.65383T>C protEffect M509T KinMutBase_U78027.1:g.65383T>C mutType missense KinMutBase_U78027.1:g.65324delG protEffect 489_489delins11 KinMutBase_U78027.1:g.65324delG mutType frameshift KinMutBase_U78027.1:g.63955dupG protEffect G389X398 KinMutBase_U78027.1:g.63955dupG mutType frameshift KinMutBase_U78027.1:g.65287T>G protEffect M477R KinMutBase_U78027.1:g.65287T>G mutType missense KinMutBase_U78027.1:g.65346C>T protEffect Q497X KinMutBase_U78027.1:g.65346C>T mutType nonsense KinMutBase_U78027.1:g.67568dupT protEffect S572X KinMutBase_U78027.1:g.67568dupT mutType nonsense KinMutBase_U78027.1:g.68251T>G protEffect V626G KinMutBase_U78027.1:g.68251T>G mutType missense KinMutBase_U78027.1:g.67553delG protEffect P566X569 KinMutBase_U78027.1:g.67553delG mutType frameshift KinMutBase_U78027.1:g.68265delT protEffect Y631X648 KinMutBase_U78027.1:g.68265delT mutType frameshift KinMutBase_U78027.1:g.64677A>C protEffect E445D KinMutBase_U78027.1:g.64677A>C mutType missense KinMutBase_U78027.1:g.71543T>C protEffect F644S KinMutBase_U78027.1:g.71543T>C mutType missense KinMutBase_U78027.1:g.63934A>T protEffect K382M KinMutBase_U78027.1:g.63934A>T mutType missense KinMutBase_U78027.1:g.64697T>G protEffect M450X451 KinMutBase_U78027.1:g.64697T>G mutType gain KinMutBase_U78027.1:g.65359T>C protEffect M501T KinMutBase_U78027.1:g.65359T>C mutType missense KinMutBase_U78027.1:g.67610G>A protEffect E599_T628del KinMutBase_U78027.1:g.67610G>A mutType loss KinMutBase_U78027.1:g.66780_66781insA protEffect A523X536 KinMutBase_U78027.1:g.66780_66781insA mutType frameshift KinMutBase_U78027.1:g.64582G>A protEffect G414R KinMutBase_U78027.1:g.64582G>A mutType missense KinMutBase_U78027.1:g.68147C>A protEffect Y591X KinMutBase_U78027.1:g.68147C>A mutType nonsense KinMutBase_U78027.1:g.66787C>G protEffect R525G KinMutBase_U78027.1:g.66787C>G mutType missense KinMutBase_U78027.1:g.67523delC protEffect G556X569 KinMutBase_U78027.1:g.67523delC mutType frameshift KinMutBase_U78027.1:g.65415C>G protEffect R520G KinMutBase_U78027.1:g.65415C>G mutType missense KinMutBase_U78027.1:g.67549C>T protEffect P565L KinMutBase_U78027.1:g.67549C>T mutType missense KinMutBase_U78027.1:g.65410T>G protEffect L518R KinMutBase_U78027.1:g.65410T>G mutType missense KinMutBase_U78027.1:g.68263T>C protEffect M630T KinMutBase_U78027.1:g.68263T>C mutType missense KinMutBase_U78027.1:g.67580C>A protEffect S575R KinMutBase_U78027.1:g.67580C>A mutType missense KinMutBase_U78027.1:g.65333delC protEffect R492X499 KinMutBase_U78027.1:g.65333delC mutType frameshift KinMutBase_U78027.1:g.68279dupT protEffect E636X KinMutBase_U78027.1:g.68279dupT mutType nonsense KinMutBase_U78027.1:g.64545delC protEffect D401X402 KinMutBase_U78027.1:g.64545delC mutType frameshift KinMutBase_U78027.1:g.68220delC protEffect L616X648 KinMutBase_U78027.1:g.68220delC mutType frameshift KinMutBase_U78027.1:g.67596T>C protEffect W581R KinMutBase_U78027.1:g.67596T>C mutType missense KinMutBase_U78027.1:g.67551C>T protEffect P566S KinMutBase_U78027.1:g.67551C>T mutType missense KinMutBase_U78027.1:g.66826T>C protEffect S538P KinMutBase_U78027.1:g.66826T>C mutType missense KinMutBase_U78027.1:g.68253T>C protEffect Y627H KinMutBase_U78027.1:g.68253T>C mutType missense KinMutBase_U78027.1:g.64628T>A protEffect I429N KinMutBase_U78027.1:g.64628T>A mutType missense KinMutBase_U78027.1:g.65323delT protEffect 489_489delins11 KinMutBase_U78027.1:g.65323delT mutType frameshift KinMutBase_U78027.1:g.66824T>A protEffect V537E KinMutBase_U78027.1:g.66824T>A mutType missense KinMutBase_U78027.1:g.66788G>C protEffect R525P KinMutBase_U78027.1:g.66788G>C mutType missense KinMutBase_U78027.1:g.68209A>C protEffect Q612P KinMutBase_U78027.1:g.68209A>C mutType missense KinMutBase_U78027.1:g.63924C>T protEffect Q379X KinMutBase_U78027.1:g.63924C>T mutType nonsense KinMutBase_U78027.1:g.66811delG protEffect G533X555 KinMutBase_U78027.1:g.66811delG mutType frameshift KinMutBase_U78027.1:g.66836G>A protEffect G541D KinMutBase_U78027.1:g.66836G>A mutType missense KinMutBase_U78027.1:g.68278delA protEffect H635X648 KinMutBase_U78027.1:g.68278delA mutType frameshift KinMutBase_U78027.1:g.65362G>T protEffect C502F KinMutBase_U78027.1:g.65362G>T mutType missense KinMutBase_U78027.1:g.65314T>C protEffect L486P KinMutBase_U78027.1:g.65314T>C mutType missense KinMutBase_U78027.1:g.68142delA protEffect I590X648 KinMutBase_U78027.1:g.68142delA mutType frameshift KinMutBase_U78027.1:g.68148T>C protEffect S592P KinMutBase_U78027.1:g.68148T>C mutType missense KinMutBase_U78027.1:g.68149C>A protEffect S592Y KinMutBase_U78027.1:g.68149C>A mutType missense KinMutBase_U78027.1:g.65312C>A protEffect Y485X KinMutBase_U78027.1:g.65312C>A mutType nonsense KinMutBase_U78027.1:g.68237delG protEffect L621X648 KinMutBase_U78027.1:g.68237delG mutType frameshift KinMutBase_U78027.1:g.68141A>T protEffect E589D KinMutBase_U78027.1:g.68141A>T mutType missense KinMutBase_U78027.1:g.64631A>G protEffect K430R KinMutBase_U78027.1:g.64631A>G mutType missense KinMutBase_U78027.1:g.68154G>A protEffect G594R KinMutBase_U78027.1:g.68154G>A mutType missense KinMutBase_U78027.1:g.68202_68203insC protEffect I610X636 KinMutBase_U78027.1:g.68202_68203insC mutType frameshift KinMutBase_U78027.1:g.67605delG protEffect G584X586 KinMutBase_U78027.1:g.67605delG mutType frameshift KinMutBase_U78027.1:g.68229C>G protEffect P619A KinMutBase_U78027.1:g.68229C>G mutType missense KinMutBase_U78027.1:g.68133A>C protEffect M587L KinMutBase_U78027.1:g.68133A>C mutType missense KinMutBase_U78027.1:g.65363C>A protEffect C502X KinMutBase_U78027.1:g.65363C>A mutType nonsense KinMutBase_U78027.1:g.67561T>C protEffect L569P KinMutBase_U78027.1:g.67561T>C mutType missense KinMutBase_U78027.1:g.64594T>C protEffect Y418H KinMutBase_U78027.1:g.64594T>C mutType missense KinMutBase_U78027.1:g.64692G>T protEffect G393X426 KinMutBase_U78027.1:g.64692G>T mutType loss KinMutBase_U78027.1:g.65418G>C protEffect D521H KinMutBase_U78027.1:g.65418G>C mutType missense KinMutBase_MERTK_DNA:g.110731C>T protEffect R651X KinMutBase_MERTK_DNA:g.110731C>T mutType nonsense KinMutBase_MERTK_DNA:g.112322delA protEffect T690X701 KinMutBase_MERTK_DNA:g.112322delA mutType frameshift KinMutBase_KIT_DNA:g.76079A>G protEffect R796G KinMutBase_KIT_DNA:g.76079A>G mutType missense KinMutBase_KIT_DNA:g.79537A>C protEffect T847P KinMutBase_KIT_DNA:g.79537A>C mutType missense KinMutBase_KIT_DNA:g.76139G>C protEffect D816H KinMutBase_KIT_DNA:g.76139G>C mutType missense KinMutBase_KIT_DNA:g.71040delA protEffect K642X644 KinMutBase_KIT_DNA:g.71040delA mutType frameshift KinMutBase_KIT_DNA:g.76064A>G protEffect R791G KinMutBase_KIT_DNA:g.76064A>G mutType missense KinMutBase_KIT_DNA:g.76128G>T protEffect G812V KinMutBase_KIT_DNA:g.76128G>T mutType missense KinMutBase_KIT_DNA:g.76139G>T protEffect D816Y KinMutBase_KIT_DNA:g.76139G>T mutType missense KinMutBase_KIT_DNA:g.79787delA protEffect E893X902 KinMutBase_KIT_DNA:g.79787delA mutType frameshift KinMutBase_FGFR3_DNA:g.12748A>G protEffect N540S KinMutBase_FGFR3_DNA:g.12748A>G mutType missense KinMutBase_FGFR3_DNA:g.13269G>T protEffect K650N KinMutBase_FGFR3_DNA:g.13269G>T mutType missense KinMutBase_FGFR3_DNA:g.13269G>C protEffect K650N KinMutBase_FGFR3_DNA:g.13269G>C mutType missense KinMutBase_FGFR3_DNA:g.13267A>C protEffect K650Q KinMutBase_FGFR3_DNA:g.13267A>C mutType missense KinMutBase_ROR2_DNA:g.226829G>A protEffect W720X KinMutBase_ROR2_DNA:g.226829G>A mutType nonsense KinMutBase_ROR2_DNA:g.226529T>A protEffect N620K KinMutBase_ROR2_DNA:g.226529T>A mutType missense KinMutBase_ROR2_DNA:g.226173C>T protEffect Q502X KinMutBase_ROR2_DNA:g.226173C>T mutType nonsense KinMutBase_CHEK2_DNA:g.49841delC protEffect T367X381 KinMutBase_CHEK2_DNA:g.49841delC mutType frameshift KinMutBase_CHEK2_DNA:g.51639delT protEffect R474X481 KinMutBase_CHEK2_DNA:g.51639delT mutType frameshift KinMutBase_FLT4_DNA:g.30803G>A protEffect G857R KinMutBase_FLT4_DNA:g.30803G>A mutType missense KinMutBase_FLT4_DNA:g.34082G>C protEffect R1041P KinMutBase_FLT4_DNA:g.34082G>C mutType missense KinMutBase_FLT4_DNA:g.34091T>C protEffect L1044P KinMutBase_FLT4_DNA:g.34091T>C mutType missense KinMutBase_FLT4_DNA:g.37445C>T protEffect P1114L KinMutBase_FLT4_DNA:g.37445C>T mutType missense KinMutBase_FLT4_DNA:g.34064A>G protEffect H1035R KinMutBase_FLT4_DNA:g.34064A>G mutType missense KinMutBase_STK11_DNA:g.13439G>C protEffect G135R KinMutBase_STK11_DNA:g.13439G>C mutType missense KinMutBase_STK11_DNA:g.14576A>T protEffect D194V KinMutBase_STK11_DNA:g.14576A>T mutType missense KinMutBase_STK11_DNA:g.12534delC protEffect H107X128 KinMutBase_STK11_DNA:g.12534delC mutType frameshift KinMutBase_STK11_DNA:g.12536A>G protEffect K108R KinMutBase_STK11_DNA:g.12536A>G mutType missense KinMutBase_STK11_DNA:g.15332A>C protEffect E256A KinMutBase_STK11_DNA:g.15332A>C mutType missense KinMutBase_STK11_DNA:g.14764T>C protEffect S232P KinMutBase_STK11_DNA:g.14764T>C mutType missense KinMutBase_STK11_DNA:g.16063G>A protEffect R297K KinMutBase_STK11_DNA:g.16063G>A mutType missense KinMutBase_STK11_DNA:g.14575G>A protEffect D194N KinMutBase_STK11_DNA:g.14575G>A mutType missense KinMutBase_STK11_DNA:g.1157dupG protEffect D53X162 KinMutBase_STK11_DNA:g.1157dupG mutType frameshift KinMutBase_ACVRL1_DNA:g.3976G>T protEffect S333I KinMutBase_ACVRL1_DNA:g.3976G>T mutType missense KinMutBase_ACVRL1_DNA:g.3902C>A protEffect C308X KinMutBase_ACVRL1_DNA:g.3902C>A mutType nonsense KinMutBase_ACVRL1_DNA:g.3842dupT protEffect L289X391 KinMutBase_ACVRL1_DNA:g.3842dupT mutType frameshift KinMutBase_JAK3_DNA:g.14105G>A protEffect V722I KinMutBase_JAK3_DNA:g.14105G>A mutType missense KinMutBase_JAK3_DNA:g.11054C>A protEffect C565X KinMutBase_JAK3_DNA:g.11054C>A mutType nonsense KinMutBase_JAK3_DNA:g.14346T>C protEffect C759R KinMutBase_JAK3_DNA:g.14346T>C mutType missense KinMutBase_JAK3_DNA:g.11843G>T protEffect G589V KinMutBase_JAK3_DNA:g.11843G>T mutType missense KinMutBase_JAK3_DNA:g.11821C>T protEffect R582W KinMutBase_JAK3_DNA:g.11821C>T mutType missense KinMutBase_JAK3_DNA:g.18465delC protEffect C1024X1037 KinMutBase_JAK3_DNA:g.18465delC mutType frameshift KinMutBase_JAK3_DNA:g.17242T>C protEffect L910S KinMutBase_JAK3_DNA:g.17242T>C mutType missense KinMutBase_JAK3_DNA:g.18462C>A protEffect Y1023X KinMutBase_JAK3_DNA:g.18462C>A mutType nonsense KinMutBase_RPS6KA3_DNA:g.58324A>C protEffect L74F KinMutBase_RPS6KA3_DNA:g.58324A>C mutType missense KinMutBase_RPS6KA3_DNA:g.58340G>A protEffect G80R KinMutBase_RPS6KA3_DNA:g.58340G>A mutType missense KinMutBase_RPS6KA3_DNA:g.72502C>T protEffect R114W KinMutBase_RPS6KA3_DNA:g.72502C>T mutType missense KinMutBase_RPS6KA3_DNA:g.72518G>C protEffect R119P KinMutBase_RPS6KA3_DNA:g.72518G>C mutType missense KinMutBase_RPS6KA3_DNA:g.74119T>A protEffect I189K KinMutBase_RPS6KA3_DNA:g.74119T>A mutType missense KinMutBase_RPS6KA3_DNA:g.74130G>A protEffect D193N KinMutBase_RPS6KA3_DNA:g.74130G>A mutType missense KinMutBase_RPS6KA3_DNA:g.79723C>T protEffect T231I KinMutBase_RPS6KA3_DNA:g.79723C>T mutType missense KinMutBase_RPS6KA3_DNA:g.58307G>T protEffect E69X KinMutBase_RPS6KA3_DNA:g.58307G>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.81297C>T protEffect Q269X KinMutBase_RPS6KA3_DNA:g.81297C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.79758C>T protEffect R243X KinMutBase_RPS6KA3_DNA:g.79758C>T mutType nonsense KinMutBase_RPS6KA3_DNA:g.90635T>A protEffect L311X KinMutBase_RPS6KA3_DNA:g.90635T>A mutType nonsense KinMutBase_RPS6KA3_DNA:g.94887G>C protEffect K451N KinMutBase_RPS6KA3_DNA:g.94887G>C mutType missense KinMutBase_RPS6KA3_DNA:g.98188T>G protEffect L467R KinMutBase_RPS6KA3_DNA:g.98188T>G mutType missense KinMutBase_RPS6KA3_DNA:g.98211A>G protEffect N475D KinMutBase_RPS6KA3_DNA:g.98211A>G mutType missense KinMutBase_RPS6KA3_DNA:g.99917T>G protEffect V492G KinMutBase_RPS6KA3_DNA:g.99917T>G mutType missense KinMutBase_RPS6KA3_DNA:g.99929T>G protEffect M496R KinMutBase_RPS6KA3_DNA:g.99929T>G mutType missense KinMutBase_RPS6KA3_DNA:g.102580A>T protEffect H537L KinMutBase_RPS6KA3_DNA:g.102580A>T mutType missense KinMutBase_RPS6KA3_DNA:g.102602C>A protEffect N544K KinMutBase_RPS6KA3_DNA:g.102602C>A mutType missense KinMutBase_RPS6KA3_DNA:g.102729C>T protEffect P587S KinMutBase_RPS6KA3_DNA:g.102729C>T mutType missense KinMutBase_RPS6KA3_DNA:g.105888A>G protEffect N620D KinMutBase_RPS6KA3_DNA:g.105888A>G mutType missense KinMutBase_RPS6KA3_DNA:g.102669C>T protEffect Q567X KinMutBase_RPS6KA3_DNA:g.102669C>T mutType nonsense KinMutBase_TEK_DNA:g.55887A>C protEffect Y897S KinMutBase_TEK_DNA:g.55887A>C mutType missense KinMutBase_NTRK1_DNA:g.16208G>A protEffect G516R KinMutBase_NTRK1_DNA:g.16208G>A mutType missense KinMutBase_NTRK1_DNA:g.16637C>T protEffect R596X KinMutBase_NTRK1_DNA:g.16637C>T mutType nonsense KinMutBase_NTRK1_DNA:g.19342C>T protEffect R648C KinMutBase_NTRK1_DNA:g.19342C>T mutType missense KinMutBase_NTRK1_DNA:g.19402G>T protEffect D668Y KinMutBase_NTRK1_DNA:g.19402G>T mutType missense KinMutBase_NTRK1_DNA:g.21645dupT protEffect 771_771delins90 KinMutBase_NTRK1_DNA:g.21645dupT mutType frameshift KinMutBase_NTRK1_DNA:g.21656G>C protEffect R774P KinMutBase_NTRK1_DNA:g.21656G>C mutType missense KinMutBase_NTRK1_DNA:g.20102C>T protEffect P689L KinMutBase_NTRK1_DNA:g.20102C>T mutType missense KinMutBase_NTRK1_DNA:g.19242_19243insT protEffect P615X626 KinMutBase_NTRK1_DNA:g.19242_19243insT mutType frameshift KinMutBase_AY186092.1:g.21175C>T protEffect Q293X KinMutBase_AY186092.1:g.21175C>T mutType nonsense KinMutBase_AY186092.1:g.20671delT protEffect L274X287 KinMutBase_AY186092.1:g.20671delT mutType frameshift KinMutBase_AY186092.1:g.15978delA protEffect N207X212 KinMutBase_AY186092.1:g.15978delA mutType frameshift KinMutBase_RET_DNA:g.42326T>G protEffect S767R KinMutBase_RET_DNA:g.42326T>G mutType missense KinMutBase_RET_DNA:g.44028G>A protEffect R873Q KinMutBase_RET_DNA:g.44028G>A mutType missense KinMutBase_RET_DNA:g.44087T>C protEffect F893L KinMutBase_RET_DNA:g.44087T>C mutType missense KinMutBase_RET_DNA:g.44129A>G protEffect K907E KinMutBase_RET_DNA:g.44129A>G mutType missense KinMutBase_RET_DNA:g.47745T>C protEffect M980T KinMutBase_RET_DNA:g.47745T>C mutType missense KinMutBase_RET_DNA:g.45913G>A protEffect E921K KinMutBase_RET_DNA:g.45913G>A mutType missense KinMutBase_RET_DNA:g.40584G>A protEffect E734K KinMutBase_RET_DNA:g.40584G>A mutType missense KinMutBase_RET_DNA:g.47632G>C protEffect W942C KinMutBase_RET_DNA:g.47632G>C mutType missense KinMutBase_RET_DNA:g.47711C>T protEffect R969W KinMutBase_RET_DNA:g.47711C>T mutType missense KinMutBase_RET_DNA:g.44062G>C protEffect E884D KinMutBase_RET_DNA:g.44062G>C mutType missense KinMutBase_RET_DNA:g.42336G>A protEffect D771N KinMutBase_RET_DNA:g.42336G>A mutType missense KinMutBase_RET_DNA:g.43513G>A protEffect R813Q KinMutBase_RET_DNA:g.43513G>A mutType missense KinMutBase_RET_DNA:g.45917C>T protEffect S922F KinMutBase_RET_DNA:g.45917C>T mutType missense KinMutBase_STK11_DNA:g.17075G>T protEffect W308C KinMutBase_STK11_DNA:g.17075G>T mutType missense KinMutBase_STK11_DNA:g.14521G>A protEffect D176N KinMutBase_STK11_DNA:g.14521G>A mutType missense KinMutBase_STK11_DNA:g.14569dupA protEffect I192X265 KinMutBase_STK11_DNA:g.14569dupA mutType frameshift KinMutBase_STK11_DNA:g.16076delG protEffect R301X335 KinMutBase_STK11_DNA:g.16076delG mutType frameshift KinMutBase_STK11_DNA:g.1158delA protEffect 53_53delins11 KinMutBase_STK11_DNA:g.1158delA mutType frameshift KinMutBase_STK11_DNA:g.14465T>C protEffect F157S KinMutBase_STK11_DNA:g.14465T>C mutType missense KinMutBase_STK11_DNA:g.13490C>T protEffect Q152X KinMutBase_STK11_DNA:g.13490C>T mutType nonsense KinMutBase_STK11_DNA:g.14536A>T protEffect N181Y KinMutBase_STK11_DNA:g.14536A>T mutType missense KinMutBase_STK11_DNA:g.17074G>A protEffect W308X KinMutBase_STK11_DNA:g.17074G>A mutType nonsense KinMutBase_STK11_DNA:g.14728C>T protEffect Q220X KinMutBase_STK11_DNA:g.14728C>T mutType nonsense KinMutBase_MET_DNA:g.111970T>G protEffect Y1235D KinMutBase_MET_DNA:g.111970T>G mutType missense KinMutBase_MET_DNA:g.107549C>T protEffect T1173I KinMutBase_MET_DNA:g.107549C>T mutType missense KinMutBase_MET_DNA:g.112017G>A protEffect M1250I KinMutBase_MET_DNA:g.112017G>A mutType missense KinMutBase_MET_DNA:g.111998A>G protEffect K1244R KinMutBase_MET_DNA:g.111998A>G mutType missense KinMutBase_MET_DNA:g.106006A>G protEffect H1094R KinMutBase_MET_DNA:g.106006A>G mutType missense KinMutBase_MET_DNA:g.106005C>T protEffect H1094Y KinMutBase_MET_DNA:g.106005C>T mutType missense KinMutBase_MET_DNA:g.106041C>G protEffect H1106D KinMutBase_MET_DNA:g.106041C>G mutType missense KinMutBase_MET_DNA:g.105999G>A protEffect V1092I KinMutBase_MET_DNA:g.105999G>A mutType missense KinMutBase_KIT_DNA:g.79513G>A protEffect E839K KinMutBase_KIT_DNA:g.79513G>A mutType missense KinMutBase_RET_DNA:g.44057G>T protEffect A883S KinMutBase_RET_DNA:g.44057G>T mutType missense KinMutBase_RHOK_DNA:g.1001C>T protEffect T298M KinMutBase_RHOK_DNA:g.1001C>T mutType missense KinMutBase_RHOK_DNA:g.1097A>G protEffect N330S KinMutBase_RHOK_DNA:g.1097A>G mutType missense KinMutBase_RHOK_DNA:g.1421G>A protEffect R438H KinMutBase_RHOK_DNA:g.1421G>A mutType missense KinMutBase_CHEK2_DNA:g.33724G>T protEffect E239X KinMutBase_CHEK2_DNA:g.33724G>T mutType nonsense KinMutBase_CHEK2_DNA:g.33724G>A protEffect E239K KinMutBase_CHEK2_DNA:g.33724G>A mutType missense KinMutBase_CHEK2_DNA:g.33760A>T protEffect I251F KinMutBase_CHEK2_DNA:g.33760A>T mutType missense KinMutBase_CHEK2_DNA:g.45817G>A protEffect R318H KinMutBase_CHEK2_DNA:g.45817G>A mutType missense KinMutBase_CHEK2_DNA:g.45831A>C protEffect T323P KinMutBase_CHEK2_DNA:g.45831A>C mutType missense KinMutBase_CHEK2_DNA:g.45844A>G protEffect Y327C KinMutBase_CHEK2_DNA:g.45844A>G mutType missense KinMutBase_CHEK2_DNA:g.51644C>A protEffect T476K KinMutBase_CHEK2_DNA:g.51644C>A mutType missense KinMutBase_FGFR1_DNA:g.55008T>A protEffect W666R KinMutBase_FGFR1_DNA:g.55008T>A mutType missense KinMutBase_KIT_DNA:g.76159T>A protEffect N822K KinMutBase_KIT_DNA:g.76159T>A mutType missense KinMutBase_KIT_DNA:g.76160T>G protEffect Y823D KinMutBase_KIT_DNA:g.76160T>G mutType missense KinMutBase_KIT_DNA:g.76161A>G protEffect Y823C KinMutBase_KIT_DNA:g.76161A>G mutType missense KinMutBase_KIT_DNA:g.76095C>T protEffect T801I KinMutBase_KIT_DNA:g.76095C>T mutType missense KinMutBase_KIT_DNA:g.71040A>C protEffect K642Q KinMutBase_KIT_DNA:g.71040A>C mutType missense KinMutBase_KIT_DNA:g.76151G>T protEffect D820Y KinMutBase_KIT_DNA:g.76151G>T mutType missense KinMutBase_KIT_DNA:g.71040A>G protEffect K642E KinMutBase_KIT_DNA:g.71040A>G mutType missense KinMutBase_KIT_DNA:g.76157A>C protEffect N822H KinMutBase_KIT_DNA:g.76157A>C mutType missense KinMutBase_KIT_DNA:g.74314delA protEffect S715X724 KinMutBase_KIT_DNA:g.74314delA mutType frameshift KinMutBase_KIT_DNA:g.72437delA protEffect Y703X724 KinMutBase_KIT_DNA:g.72437delA mutType frameshift KinMutBase_KIT_DNA:g.76137G>A protEffect R815K KinMutBase_KIT_DNA:g.76137G>A mutType missense KinMutBase_FGFR3_DNA:g.13268A>C protEffect K650T KinMutBase_FGFR3_DNA:g.13268A>C mutType missense KinMutBase_FGFR2_DNA:g.100882A>C protEffect N549H KinMutBase_FGFR2_DNA:g.100882A>C mutType missense KinMutBase_FGFR2_DNA:g.102703A>G protEffect E565G KinMutBase_FGFR2_DNA:g.102703A>G mutType missense KinMutBase_FGFR2_DNA:g.111349A>G protEffect K641R KinMutBase_FGFR2_DNA:g.111349A>G mutType missense KinMutBase_FGFR2_DNA:g.111404G>T protEffect K659N KinMutBase_FGFR2_DNA:g.111404G>T mutType missense KinMutBase_FGFR2_DNA:g.111981G>A protEffect G663E KinMutBase_FGFR2_DNA:g.111981G>A mutType missense KinMutBase_FGFR2_DNA:g.112025A>G protEffect R678G KinMutBase_FGFR2_DNA:g.112025A>G mutType missense KinMutBase_INSR_DNA:g.169455G>T protEffect G1035V KinMutBase_INSR_DNA:g.169455G>T mutType missense KinMutBase_INSR_DNA:g.169515C>T protEffect A1055V KinMutBase_INSR_DNA:g.169515C>T mutType missense KinMutBase_INSR_DNA:g.171999C>T protEffect R1119W KinMutBase_INSR_DNA:g.171999C>T mutType missense KinMutBase_INSR_DNA:g.172177T>C protEffect I1143T KinMutBase_INSR_DNA:g.172177T>C mutType missense KinMutBase_INSR_DNA:g.172221C>T protEffect R1158W KinMutBase_INSR_DNA:g.172221C>T mutType missense KinMutBase_INSR_DNA:g.174214C>T protEffect R1201W KinMutBase_INSR_DNA:g.174214C>T mutType missense KinMutBase_INSR_DNA:g.174229G>A protEffect E1206K KinMutBase_INSR_DNA:g.174229G>A mutType missense KinMutBase_RET_DNA:g.43606G>T protEffect R844L KinMutBase_RET_DNA:g.43606G>T mutType missense KinMutBase_RET_DNA:g.48824C>T protEffect R982C KinMutBase_RET_DNA:g.48824C>T mutType missense KinMutBase_RHOK_DNA:g.1247T>A protEffect V380D KinMutBase_RHOK_DNA:g.1247T>A mutType missense KinMutBase_U29700:g.7064delC protEffect L444X480 KinMutBase_U29700:g.7064delC mutType frameshift KinMutBase_U29700:g.2790T>G protEffect H282Q KinMutBase_U29700:g.2790T>G mutType missense KinMutBase_U29700:g.6844A>G protEffect D426G KinMutBase_U29700:g.6844A>G mutType missense KinMutBase_U29700:g.7107T>C protEffect V458A KinMutBase_U29700:g.7107T>C mutType missense KinMutBase_U29700:g.8101G>C protEffect D491H KinMutBase_U29700:g.8101G>C mutType missense KinMutBase_U29700:g.8140C>T protEffect R504C KinMutBase_U29700:g.8140C>T mutType missense KinMutBase_U29700:g.6784G>A protEffect R406Q KinMutBase_U29700:g.6784G>A mutType missense KinMutBase_BMPR2_DNA:g.142357C>T protEffect R211X KinMutBase_BMPR2_DNA:g.142357C>T mutType nonsense KinMutBase_BMPR2_DNA:g.142415delA protEffect K230X251 KinMutBase_BMPR2_DNA:g.142415delA mutType frameshift KinMutBase_BMPR2_DNA:g.142453G>T protEffect E243X KinMutBase_BMPR2_DNA:g.142453G>T mutType nonsense KinMutBase_BMPR2_DNA:g.154346C>T protEffect R332X KinMutBase_BMPR2_DNA:g.154346C>T mutType nonsense KinMutBase_BMPR2_DNA:g.154428delC protEffect T359X374 KinMutBase_BMPR2_DNA:g.154428delC mutType frameshift KinMutBase_BMPR2_DNA:g.156173delT protEffect C397X401 KinMutBase_BMPR2_DNA:g.156173delT mutType frameshift KinMutBase_BMPR2_DNA:g.156240T>C protEffect C420R KinMutBase_BMPR2_DNA:g.156240T>C mutType missense KinMutBase_BMPR2_DNA:g.176299C>T protEffect R491W KinMutBase_BMPR2_DNA:g.176299C>T mutType missense KinMutBase_BMPR2_DNA:g.154451delG protEffect G367X374 KinMutBase_BMPR2_DNA:g.154451delG mutType frameshift KinMutBase_BMPR2_DNA:g.176300G>A protEffect R491Q KinMutBase_BMPR2_DNA:g.176300G>A mutType missense KinMutBase_BMPR2_DNA:g.142416A>T protEffect K230N KinMutBase_BMPR2_DNA:g.142416A>T mutType missense KinMutBase_BMPR2_DNA:g.176282A>G protEffect D485G KinMutBase_BMPR2_DNA:g.176282A>G mutType missense KinMutBase_BMPR2_DNA:g.154392G>A protEffect C347Y KinMutBase_BMPR2_DNA:g.154392G>A mutType missense KinMutBase_BMPR2_DNA:g.142512dupT protEffect G263X265 KinMutBase_BMPR2_DNA:g.142512dupT mutType frameshift KinMutBase_BMPR2_DNA:g.156230delA protEffect I416X418 KinMutBase_BMPR2_DNA:g.156230delA mutType frameshift KinMutBase_BMPR2_DNA:g.156228_156229insG protEffect I416X447 KinMutBase_BMPR2_DNA:g.156228_156229insG mutType frameshift KinMutBase_BMPR2_DNA:g.176275T>C protEffect C483R KinMutBase_BMPR2_DNA:g.176275T>C mutType missense KinMutBase_BMPR1A_DNA:g.161628C>T protEffect R273X KinMutBase_BMPR1A_DNA:g.161628C>T mutType nonsense KinMutBase_BMPR1A_DNA:g.163737C>T protEffect R361X KinMutBase_BMPR1A_DNA:g.163737C>T mutType nonsense KinMutBase_BMPR1A_DNA:g.163669C>A protEffect A338D KinMutBase_BMPR1A_DNA:g.163669C>A mutType missense KinMutBase_BMPR1A_DNA:g.163783G>A protEffect C376Y KinMutBase_BMPR1A_DNA:g.163783G>A mutType missense KinMutBase_BMPR1A_DNA:g.161526C>T protEffect Q239X KinMutBase_BMPR1A_DNA:g.161526C>T mutType nonsense KinMutBase_BMPR1A_DNA:g.161623G>A protEffect W271X KinMutBase_BMPR1A_DNA:g.161623G>A mutType nonsense KinMutBase_BMPR1A_DNA:g.163617delC protEffect L321X KinMutBase_BMPR1A_DNA:g.163617delC mutType nonsense KinMutBase_BMPR1A_DNA:g.161595delG protEffect 262_262delins21 KinMutBase_BMPR1A_DNA:g.161595delG mutType frameshift KinMutBase_BMPR1A_DNA:g.161637delG protEffect E276X282 KinMutBase_BMPR1A_DNA:g.161637delG mutType frameshift KinMutBase_RET_DNA:g.42329G>T protEffect E768D KinMutBase_RET_DNA:g.42329G>T mutType missense KinMutBase_RET_DNA:g.43485G>C protEffect V804L KinMutBase_RET_DNA:g.43485G>C mutType missense KinMutBase_RET_DNA:g.42410C>A protEffect S795R KinMutBase_RET_DNA:g.42410C>A mutType missense KinMutBase_RET_DNA:g.45916T>C protEffect S922P KinMutBase_RET_DNA:g.45916T>C mutType missense KinMutBase_RET_DNA:g.45941C>T protEffect T930M KinMutBase_RET_DNA:g.45941C>T mutType missense KinMutBase_RET_DNA:g.43620G>A protEffect G849S KinMutBase_RET_DNA:g.43620G>A mutType missense KinMutBase_RET_DNA:g.44027C>T protEffect R873W KinMutBase_RET_DNA:g.44027C>T mutType missense KinMutBase_RET_DNA:g.43597C>T protEffect P841L KinMutBase_RET_DNA:g.43597C>T mutType missense KinMutBase_STK11_DNA:g.14525T>A protEffect I177N KinMutBase_STK11_DNA:g.14525T>A mutType missense KinMutBase_STK11_DNA:g.16083C>T protEffect R304W KinMutBase_STK11_DNA:g.16083C>T mutType missense KinMutBase_STK11_DNA:g.14474T>C protEffect L160P KinMutBase_STK11_DNA:g.14474T>C mutType missense KinMutBase_STK11_DNA:g.14761T>C protEffect F231L KinMutBase_STK11_DNA:g.14761T>C mutType missense KinMutBase_STK11_DNA:g.1196G>A protEffect V66M KinMutBase_STK11_DNA:g.1196G>A mutType missense KinMutBase_TGFBR2_DNA:g.66055T>C protEffect V250A KinMutBase_TGFBR2_DNA:g.66055T>C mutType missense KinMutBase_TGFBR2_DNA:g.68316A>G protEffect Y448C KinMutBase_TGFBR2_DNA:g.68316A>G mutType missense KinMutBase_TGFBR2_DNA:g.82572A>G protEffect K488E KinMutBase_TGFBR2_DNA:g.82572A>G mutType missense KinMutBase_TGFBR2_DNA:g.66425G>T protEffect M373I KinMutBase_TGFBR2_DNA:g.66425G>T mutType missense KinMutBase_TGFBR2_DNA:g.66508C>T protEffect S401F KinMutBase_TGFBR2_DNA:g.66508C>T mutType missense KinMutBase_PAK3_DNA:g.72299C>A protEffect A365E KinMutBase_PAK3_DNA:g.72299C>A mutType missense KinMutBase_FLT3_DNA:g.53109G>T protEffect D835Y KinMutBase_FLT3_DNA:g.53109G>T mutType missense KinMutBase_FLT3_DNA:g.53110A>T protEffect D835V KinMutBase_FLT3_DNA:g.53110A>T mutType missense KinMutBase_FLT3_DNA:g.53109G>C protEffect D835H KinMutBase_FLT3_DNA:g.53109G>C mutType missense KinMutBase_FLT3_DNA:g.53111T>A protEffect D835E KinMutBase_FLT3_DNA:g.53111T>A mutType missense KinMutBase_FLT3_DNA:g.53109G>A protEffect D835N VAR_019290 commonName VAR_019290 KinMutBase_FLT3_DNA:g.53109G>A mutType missense KinMutBase_FLT3_DNA:g.53112A>T protEffect I836F KinMutBase_FLT3_DNA:g.53112A>T mutType missense KinMutBase_FLT3_DNA:g.53110A>C protEffect D835A KinMutBase_FLT3_DNA:g.53110A>C mutType missense KinMutBase_FLT3_DNA:g.53111T>G protEffect D835E KinMutBase_FLT3_DNA:g.53111T>G mutType missense KinMutBase_FLT3_DNA:g.53109delG protEffect D835X837 KinMutBase_FLT3_DNA:g.53109delG mutType frameshift KinMutBase_FLT3_DNA:g.43422C>T protEffect A680V KinMutBase_FLT3_DNA:g.43422C>T mutType missense KinMutBase_FLT3_DNA:g.53110A>G protEffect D835G KinMutBase_FLT3_DNA:g.53110A>G mutType missense KinMutBase_FLT3_DNA:g.53112delA protEffect I836X837 KinMutBase_FLT3_DNA:g.53112delA mutType frameshift KinMutBase_FLT3_DNA:g.53113T>C protEffect I836T KinMutBase_FLT3_DNA:g.53113T>C mutType missense KinMutBase_FLT3_DNA:g.53113_53114insG protEffect I836X839 KinMutBase_FLT3_DNA:g.53113_53114insG mutType frameshift KinMutBase_FLT3_DNA:g.53126_53127insG protEffect N841X862 KinMutBase_FLT3_DNA:g.53126_53127insG mutType frameshift KinMutBase_BMPR1A_DNA:g.167795T>C protEffect M470T KinMutBase_BMPR1A_DNA:g.167795T>C mutType missense KinMutBase_AJ222657:g.8429G>A protEffect R660Q KinMutBase_AJ222657:g.8429G>A mutType missense KinMutBase_AJ222657:g.6858T>C protEffect F565S KinMutBase_AJ222657:g.6858T>C mutType missense KinMutBase_AJ222657:g.8156delG protEffect R602X636 KinMutBase_AJ222657:g.8156delG mutType frameshift KinMutBase_AJ222657:g.5311C>T protEffect R540C KinMutBase_AJ222657:g.5311C>T mutType missense KinMutBase_AJ222657:g.9184A>G protEffect Y746C KinMutBase_AJ222657:g.9184A>G mutType missense KinMutBase_AJ222657:g.8428C>T protEffect R660X KinMutBase_AJ222657:g.8428C>T mutType nonsense KinMutBase_AJ222657:g.9875C>T protEffect R768W KinMutBase_AJ222657:g.9875C>T mutType missense KinMutBase_AJ222657:g.9890A>C protEffect M773L KinMutBase_AJ222657:g.9890A>C mutType missense KinMutBase_AJ222657:g.10656C>T protEffect R838C KinMutBase_AJ222657:g.10656C>T mutType missense KinMutBase_AJ222657:g.10657G>A protEffect R838H KinMutBase_AJ222657:g.10657G>A mutType missense KinMutBase_AJ222657:g.10656C>A protEffect R838S KinMutBase_AJ222657:g.10656C>A mutType missense KinMutBase_AJ222657:g.10655G>C protEffect E837D KinMutBase_AJ222657:g.10655G>C mutType missense KinMutBase_PHKG2_DNA:g.8867G>A protEffect D215N KinMutBase_PHKG2_DNA:g.8867G>A mutType missense KinMutBase_PHKG2_DNA:g.9287G>A protEffect W300X KinMutBase_PHKG2_DNA:g.9287G>A mutType nonsense KinMutBase_PHKG2_DNA:g.3875delA protEffect 89_89delins21 KinMutBase_PHKG2_DNA:g.3875delA mutType frameshift KinMutBase_PHKG2_DNA:g.6069G>A protEffect E157K KinMutBase_PHKG2_DNA:g.6069G>A mutType missense KinMutBase_PHKG2_DNA:g.4153delC protEffect L93X109 KinMutBase_PHKG2_DNA:g.4153delC mutType frameshift KinMutBase_PHKG2_DNA:g.3739C>T protEffect R44X KinMutBase_PHKG2_DNA:g.3739C>T mutType nonsense KinMutBase_PHKG2_DNA:g.6033C>T protEffect H145Y KinMutBase_PHKG2_DNA:g.6033C>T mutType missense KinMutBase_PHKG2_DNA:g.8995T>G protEffect L226R KinMutBase_PHKG2_DNA:g.8995T>G mutType missense KinMutBase_INSR_DNA:g.169430C>T protEffect R1027X KinMutBase_INSR_DNA:g.169430C>T mutType nonsense KinMutBase_JAK3_DNA:g.14140delG protEffect K733X755 KinMutBase_JAK3_DNA:g.14140delG mutType frameshift KinMutBase_RET_DNA:g.44121C>G protEffect S904C KinMutBase_RET_DNA:g.44121C>G mutType missense KinMutBase_STK11_DNA:g.1198delG protEffect V66X95 KinMutBase_STK11_DNA:g.1198delG mutType frameshift KinMutBase_STK11_DNA:g.15396delC protEffect D277X286 KinMutBase_STK11_DNA:g.15396delC mutType frameshift KinMutBase_STK11_DNA:g.1197dupT protEffect V66X162 KinMutBase_STK11_DNA:g.1197dupT mutType frameshift KinMutBase_STK11_DNA:g.14720delC protEffect P217X286 KinMutBase_STK11_DNA:g.14720delC mutType frameshift KinMutBase_STK11_DNA:g.14787G>C protEffect W239C KinMutBase_STK11_DNA:g.14787G>C mutType missense KinMutBase_ACVRL1_DNA:g.4706T>A protEffect I398N VAR_031001 comment in KAL2 KinMutBase_ACVRL1_DNA:g.4706T>A mutType missense KinMutBase_RPS6KA3_DNA:g.73365delC protEffect A136X163 KinMutBase_RPS6KA3_DNA:g.73365delC mutType frameshift KinMutBase_RPS6KA3_DNA:g.73409delA protEffect R151X163 KinMutBase_RPS6KA3_DNA:g.73409delA mutType frameshift KinMutBase_RPS6KA3_DNA:g.81295T>C protEffect F268S KinMutBase_RPS6KA3_DNA:g.81295T>C mutType missense KinMutBase_FLT4_DNA:g.31635C>T protEffect P954S KinMutBase_FLT4_DNA:g.31635C>T mutType missense KinMutBase_PHKG2_DNA:g.8790G>A protEffect G189E KinMutBase_PHKG2_DNA:g.8790G>A mutType missense KinMutBase_PHKG2_DNA:g.4193T>A protEffect V106E KinMutBase_PHKG2_DNA:g.4193T>A mutType missense KinMutBase_LTK_DNA:g.10479G>A protEffect E763K KinMutBase_LTK_DNA:g.10479G>A mutType missense HbVar.1 protEffect HBA2 or HBA1 2(NA1) Val>Gly HbVar.1 commonName Hb Antananarivo HbVar.1 ethnic Madagascar HbVar.1 phenoCommon Hemoglobin variant HbVar.2 protEffect HBA2 or HBA1 3(NA2) Leu>Arg HbVar.2 commonName Hb Chongqing HbVar.2 ethnic Chinese HbVar.2 phenoCommon Hemoglobin variant HbVar.3 protEffect HBA2 or HBA1 6(A3) Ala>Asp HbVar.3 commonName Hb J-Toronto HbVar.3 ethnic English HbVar.3 phenoCommon Hemoglobin variant HbVar.4 protEffect HBA2 or HBA1 6(A3) Ala>Pro HbVar.4 commonName Hb Karachi HbVar.4 ethnic Pakistani HbVar.4 phenoCommon Hemoglobin variant HbVar.5 protEffect HBA2 or HBA1 7(A4) Asp>Ala HbVar.5 commonName Hb Sawara HbVar.5 ethnic Japanese HbVar.5 phenoCommon Hemoglobin variant HbVar.6 protEffect HBA2 or HBA1 7(A4) Asp>Asn HbVar.6 commonName Hb Dunn HbVar.6 ethnic Black HbVar.6 ethnic Indian HbVar.6 ethnic Moroccan HbVar.6 phenoCommon Hemoglobin variant HbVar.7 protEffect HBA2 or HBA1 7(A4) Asp>Val HbVar.7 commonName Hb Ferndown HbVar.7 ethnic English HbVar.7 phenoCommon Hemoglobin variant HbVar.8 protEffect HBA2 or HBA1 7(A4) Asp>Tyr HbVar.8 commonName Hb Woodville HbVar.8 ethnic Vietnamese HbVar.8 phenoCommon Hemoglobin variant HbVar.9 protEffect HBA2 or HBA1 7(A4) Asp>Gly HbVar.9 commonName Hb Swan River HbVar.9 ethnic Yugoslavian HbVar.9 ethnic Caucasian HbVar.9 ethnic Japanese HbVar.9 phenoCommon Hemoglobin variant HbVar.10 protEffect HBA2 or HBA1 8(A5) Lys>Asn HbVar.10 commonName Hb Tatras HbVar.10 ethnic Czech HbVar.10 phenoCommon Hemoglobin variant HbVar.11 protEffect HBA2 or HBA1 8(A5) Lys>Glu HbVar.11 commonName Hb Kurosaki HbVar.11 ethnic Japanese HbVar.11 phenoCommon Hemoglobin variant HbVar.12 protEffect HBA2 or HBA1 12(A9) Lys>Glu HbVar.12 commonName Hb Anantharaj HbVar.12 phenoCommon Hemoglobin variant HbVar.13 protEffect HBA2 or HBA1 12(A9) Lys>Gln HbVar.13 commonName Hb J-Wenchang-Wuming HbVar.13 ethnic Chinese HbVar.13 phenoCommon Hemoglobin variant HbVar.14 protEffect HBA2 or HBA1 12(A9) Lys>Asn HbVar.14 commonName Hb Albany-Suma HbVar.14 ethnic Black HbVar.14 phenoCommon Hemoglobin variant HbVar.15 protEffect HBA2 or HBA1 13(A10) Ala>Asp HbVar.15 commonName Hb J-Paris-I HbVar.15 alias Hb J-Aljezur HbVar.15 ethnic Spanish HbVar.15 ethnic Portuguese HbVar.15 ethnic Iranian HbVar.15 ethnic Yugoslavian HbVar.15 ethnic Punjabi HbVar.15 phenoCommon Hemoglobin variant HbVar.16 protEffect HBA2 or HBA1 15(A12) Trp>Arg HbVar.16 commonName Hb Evanston HbVar.16 alias Codon 14 (T->A); TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)] alpha-Thal-1 HbVar.16 ethnic Black HbVar.16 phenoCommon Thalassemia HbVar.17 protEffect HBA1 16(A13) Gly>Asp HbVar.17 commonName Hb I-Interlaken HbVar.17 alias Hb J-Oxford HbVar.17 alias Hb N-Cosenza HbVar.17 ethnic English HbVar.17 ethnic Italian HbVar.17 phenoCommon Hemoglobin variant HbVar.18 protEffect HBA2 or HBA1 16(A13) Gly>Arg HbVar.18 commonName Hb Ottawa HbVar.18 alias Hb Siam HbVar.18 ethnic Canadian HbVar.18 ethnic Chinese HbVar.18 ethnic Polish HbVar.18 phenoCommon Hemoglobin variant HbVar.19 protEffect HBA2 17(A14) Lys>Glu HbVar.19 commonName Hb I HbVar.19 alias Hb I-Philadelphia HbVar.19 alias Hb I-Texas HbVar.19 alias Hb I-Burlington HbVar.19 alias Hb I-Skamania HbVar.19 ethnic Australian HbVar.19 ethnic Black HbVar.19 ethnic Caucasian HbVar.19 ethnic Indian HbVar.19 ethnic Japanese HbVar.19 phenoCommon Hemoglobin variant HbVar.20 protEffect HBA2 or HBA1 17(A14) Lys>Asn HbVar.20 commonName Hb Beijing HbVar.20 ethnic Chinese HbVar.20 phenoCommon Hemoglobin variant HbVar.21 protEffect HBA2 or HBA1 17(A14) Lys>Met HbVar.21 commonName Hb Harbin HbVar.21 ethnic Chinese HbVar.21 phenoCommon Hemoglobin variant HbVar.22 protEffect HBA2 or HBA1 19(A16) Gly>Arg HbVar.22 commonName Hb Handsworth HbVar.22 ethnic Indian HbVar.22 ethnic Chinese HbVar.22 ethnic Saudi Arabian HbVar.22 phenoCommon Hemoglobin variant HbVar.23 protEffect HBA2 or HBA1 19(A16) Gly>Asp HbVar.23 commonName Hb Al-Ain Abu Dhabi HbVar.23 ethnic United Arab Emirates HbVar.23 phenoCommon Hemoglobin variant HbVar.24 protEffect HBA2 or HBA1 20(AB1) Ala>Asp HbVar.24 commonName Hb J-Kurosh HbVar.24 ethnic Iranian HbVar.24 phenoCommon Hemoglobin variant HbVar.25 protEffect HBA2 or HBA1 20(AB1) Ala>Glu HbVar.25 commonName Hb J-Tashikuergan HbVar.25 ethnic Tajike HbVar.25 ethnic Afghan HbVar.25 phenoCommon Hemoglobin variant HbVar.26 protEffect HBA2 or HBA1 21(B1) His>Tyr HbVar.26 commonName Hb Necker Enfants-Malades HbVar.26 ethnic French West Indies HbVar.26 phenoCommon Hemoglobin variant HbVar.27 protEffect HBA2 21(B1) His>Gln HbVar.27 commonName Hb Le Lamentin HbVar.27 ethnic English HbVar.27 ethnic French West Indies HbVar.27 ethnic Japanese HbVar.27 ethnic Spanish HbVar.27 phenoCommon Hemoglobin variant HbVar.28 protEffect HBA2 or HBA1 21(B1) His>Arg HbVar.28 commonName Hb Hobart HbVar.28 ethnic English HbVar.28 phenoCommon Hemoglobin variant HbVar.29 protEffect HBA2 or HBA1 22(B2) Ala>Asp HbVar.29 commonName Hb J-Nyanza HbVar.29 ethnic Western Kenyan HbVar.29 phenoCommon Hemoglobin variant HbVar.30 protEffect HBA2 or HBA1 22(B2) Ala>Pro HbVar.30 commonName Hb Fontainebleau HbVar.30 ethnic Italian HbVar.30 phenoCommon Hemoglobin variant HbVar.31 protEffect HBA2 or HBA1 23(B3) Gly>Asp HbVar.31 commonName Hb J-Medellin HbVar.31 ethnic Colombian HbVar.31 phenoCommon Hemoglobin variant HbVar.32 protEffect HBA2 or HBA1 24(B4) Glu>Gln HbVar.32 commonName Hb Memphis HbVar.32 ethnic Black HbVar.32 phenoCommon Hemoglobin variant HbVar.33 protEffect HBA2 or HBA1 24(B4) Glu>Lys HbVar.33 commonName Hb Chad HbVar.33 alias Hb E-Keelung HbVar.33 ethnic Black HbVar.33 ethnic Chinese HbVar.33 ethnic Japanese HbVar.33 phen