ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Inherited Neuropathy Consortium

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1090
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HGVS dbSNP
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000166.6(GJB1):c.-16-3C>G rs1602348508
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>A (p.Met34Lys) rs1060500998
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.103G>A (p.Val35Met) rs1602348735
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro) rs1602348737
NM_000166.6(GJB1):c.109G>A (p.Val37Met) rs1057518946
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110del (p.Val37fs) rs1602348754
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.113T>C (p.Val38Ala) rs863224612
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs) rs1602348767
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro) rs1602348769
NM_000166.6(GJB1):c.115del (p.Ala39fs) rs1602348763
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly) rs786204095
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.116del (p.Ala39fs) rs1602348779
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) rs1602348782
NM_000166.6(GJB1):c.119C>T (p.Ala40Val) rs1602348786
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys) rs1602348548
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs) rs1602348794
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys) rs1602348796
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys) rs1602348801
NM_000166.6(GJB1):c.127G>A (p.Val43Met) rs1602348804
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu) rs1555937063
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) rs879253935
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly) rs1602348820
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser) rs1602348552
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly) rs1602348828
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup) rs1602348833
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr) rs1602348838
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.155del (p.Ile52fs) rs1602348856
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser) rs1602348863
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr) rs1602348864
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser) rs1602348864
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg) rs104894824
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe) rs1602348872
NM_000166.6(GJB1):c.171G>C (p.Gln57His) rs1602348875
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys) rs1555937077
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe) rs1555937082
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg) rs1602348895
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.187G>T (p.Val63Phe) rs116840818
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr) rs1602348897
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser) rs1602348897
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe) rs1602348897
NM_000166.6(GJB1):c.193T>C (p.Tyr65His) rs1602348902
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) rs1602348907
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn) rs1602348911
NM_000166.6(GJB1):c.196_198del (p.Asp66del) rs1602348913
NM_000166.6(GJB1):c.1A>T (p.Met1Leu) rs1602348517
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) rs1602348917
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) rs878853697
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe) rs1602348930
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys) rs1602348554
NM_000166.6(GJB1):c.210dup (p.Ile71fs) rs1602348918
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser) rs1602348932
NM_000166.6(GJB1):c.217del (p.His73fs) rs1602348937
NM_000166.6(GJB1):c.220G>A (p.Val74Met) rs772377652
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro) rs863224972
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg) rs1602348960
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro) rs1602348557
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser) rs199570177
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe) rs1602348971
NM_000166.6(GJB1):c.234C>T (p.Ser78=) rs1602348974
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) rs1602348981
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) rs1602348981
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile) rs1602348559
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) rs876661143
NM_000166.6(GJB1):c.244A>G (p.Ile82Val) rs1602348995
NM_000166.6(GJB1):c.246C>G (p.Ile82Met) rs1602348999
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro) rs1602349004
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg) rs1602349004
NM_000166.6(GJB1):c.248_257del (p.Leu83fs) rs1602349000
NM_000166.6(GJB1):c.250G>A (p.Val84Ile) rs1602349007
NM_000166.6(GJB1):c.251T>G (p.Val84Gly) rs1602349008
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe) rs104894823
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala) rs1602349014
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser) rs1602349014
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn) rs1602349017
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) rs1602349017
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser) rs587777877
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) rs1602349021
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.268C>G (p.Leu90Val) rs1299325261
NM_000166.6(GJB1):c.269T>A (p.Leu90His) rs1602349045
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp) rs1569214971
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.272T>G (p.Val91Gly) rs1602349050
NM_000166.6(GJB1):c.273_274del (p.Ala92fs) rs1602349061
NM_000166.6(GJB1):c.275_276del (p.Ala92fs) rs1602349065
NM_000166.6(GJB1):c.277A>G (p.Met93Val) rs1602349066
NM_000166.6(GJB1):c.277_278del (p.Met93fs) rs1602349068
NM_000166.6(GJB1):c.278T>A (p.Met93Lys) rs1602349077
NM_000166.6(GJB1):c.278T>G (p.Met93Arg) rs1602349077
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe) rs1602348563
NM_000166.6(GJB1):c.280C>G (p.His94Asp) rs1602349087
NM_000166.6(GJB1):c.280C>T (p.His94Tyr) rs1602349087
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.282C>G (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) rs1602349112
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) rs1602349121
NM_000166.6(GJB1):c.298C>T (p.His100Tyr) rs1602349131
NM_000166.6(GJB1):c.2T>G (p.Met1Arg) rs1602348519
NM_000166.6(GJB1):c.300C>G (p.His100Gln) rs1602349137
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.308dup (p.Lys104fs) rs1602349159
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr) rs1602349166
NM_000166.6(GJB1):c.313del (p.Met105fs) rs1602349163
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly) rs1602348569
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro) rs1602349183
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) rs1555937145
NM_000166.6(GJB1):c.332_349del (p.His111_His116del) rs1602349197
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs) rs1602349208
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter) rs1602349226
NM_000166.6(GJB1):c.358_360del (p.Val120del) rs1602349233
NM_000166.6(GJB1):c.359T>A (p.Val120Glu) rs1049663989
NM_000166.6(GJB1):c.371del (p.Lys124fs) rs1602349248
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.374T>A (p.Val125Asp) rs1602349254
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe) rs1602349257
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser) rs1602349258
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro) rs1602349268
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter) rs1602349272
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter) rs1602349272
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu) rs1602349272
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) rs1602349283
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter) rs1602349293
NM_000166.6(GJB1):c.397del (p.Trp133fs) rs1602349299
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) rs1602349302
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys) rs1602349302
NM_000166.6(GJB1):c.3G>T (p.Met1Ile) rs1602348524
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys) rs1602349309
NM_000166.6(GJB1):c.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) rs1602349322
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.419T>A (p.Val140Glu) rs923460745
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser) rs1569214995
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.424del (p.Arg142fs) rs1602349328
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro) rs1602349336
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del) rs1602349339
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) rs1602348598
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys) rs1602349346
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met) rs1602349347
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala) rs1602349349
NM_000166.6(GJB1):c.439del (p.Ala147fs) rs1602349352
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.43del (p.Arg15fs) rs1602348594
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp) rs1602349361
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile) rs1602349369
NM_000166.6(GJB1):c.445T>G (p.Phe149Val) rs1602349369
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu) rs1602348605
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn) rs1602349378
NM_000166.6(GJB1):c.451T>C (p.Tyr151His) rs1602349378
NM_000166.6(GJB1):c.454del (p.Val152fs) rs1602349383
NM_000166.6(GJB1):c.455T>A (p.Val152Asp) rs1602349388
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser) rs1602349399
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys) rs1602349399
NM_000166.6(GJB1):c.459_460del (p.Phe153fs) rs1602349393
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe) rs1602349418
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys) rs1602349427
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala) rs1602349430
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser) rs1602349430
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg) rs1602349439
NM_000166.6(GJB1):c.474del (p.Gly159fs) rs1602349441
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp) rs1602349446
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) rs1602349451
NM_000166.6(GJB1):c.47A>C (p.His16Pro) rs1602348610
NM_000166.6(GJB1):c.47A>T (p.His16Leu) rs1602348610
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro) rs1602349453
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp) rs1602349454
NM_000166.6(GJB1):c.484dup (p.Met162fs) rs1602349460
NM_000166.6(GJB1):c.48T>G (p.His16Gln) rs1270518681
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly) rs139643362
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro) rs1602349468
NM_000166.6(GJB1):c.498_502del (p.Lys167fs) rs1602349473
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu) rs1602349482
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg) rs1057518780
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr) rs1602349495
NM_000166.6(GJB1):c.508G>A (p.Val170Ile) rs748095370
NM_000166.6(GJB1):c.508G>T (p.Val170Phe) rs748095370
NM_000166.6(GJB1):c.509T>A (p.Val170Asp) rs1602349512
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr) rs1555937009
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) rs104894811
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg) rs1555937218
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg) rs1602349527
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) rs1602349535
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu) rs1602349540
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp) rs1602349545
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser) rs1602349555
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.530T>A (p.Val177Glu) rs1602349572
NM_000166.6(GJB1):c.530T>C (p.Val177Ala) rs1602349572
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr) rs1555937223
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.533A>T (p.Asp178Val) rs1555937224
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter) rs1602349585
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg) rs1602349591
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly) rs1602349591
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser) rs1602349610
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.541G>C (p.Val181Leu) rs879253909
NM_000166.6(GJB1):c.542T>C (p.Val181Ala) rs876661252
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr) rs1602349628
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys) rs1602349631
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe) rs1602349631
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser) rs863224471
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro) rs1555937233
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg) rs1602349646
NM_000166.6(GJB1):c.553_555del (p.Thr185del) rs1602349648
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs) rs1602349655
NM_000166.6(GJB1):c.557A>T (p.Glu186Val) rs1602349656
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala) rs1555937248
NM_000166.6(GJB1):c.571dup (p.Thr191fs) rs1602349676
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer) rs1602349684
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) rs771579861
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys) rs1602349696
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu) rs1602349697
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala) rs1555937259
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe) rs1602349716
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg) rs772529850
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn) rs1569215025
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser) rs1569215025
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg) rs1602349726
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly) rs1602349726
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr) rs1602349730
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe) rs1602349730
NM_000166.6(GJB1):c.606del (p.Ile203fs) rs1602349746
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn) rs1602349749
NM_000166.6(GJB1):c.610C>G (p.Leu204Val) rs1064795540
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe) rs1064795540
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile) rs104894822
NM_000166.6(GJB1):c.617dup (p.Ala207fs) rs1602349763
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser) rs1602348633
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly) rs1602349768
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del) rs1602349772
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp) rs1602348640
NM_000166.6(GJB1):c.62G>T (p.Gly21Val) rs1602348640
NM_000166.6(GJB1):c.62del (p.Gly21fs) rs1602348638
NM_000166.6(GJB1):c.631T>C (p.Tyr211His) rs1602349785
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe) rs1602349796
NM_000166.6(GJB1):c.634del (p.Leu212fs) rs1602349791
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn) rs1602349801
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn) rs1602349807
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly) rs1555937020
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter) rs1602349821
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys) rs144381053
NM_000166.6(GJB1):c.656G>A (p.Arg219His) rs199834862
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro) rs1060501002
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726
NM_000166.6(GJB1):c.68T>C (p.Val23Ala) rs1602348650
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys) rs1602348530
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg) rs1602348654
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) rs200774406
NM_000166.6(GJB1):c.713G>A (p.Arg238His) rs776206757
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile) rs1602349901
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro) rs1602348665
NM_000166.6(GJB1):c.761dup (p.Gln255fs) rs1602349920
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer) rs1602349948
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu) rs1602349951
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter) rs587777876
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77del (p.Ser26fs) rs1602348679
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu) rs763991026
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer) rs1602349984
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) rs1602348537
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly) rs1602348537
NM_000166.6(GJB1):c.80T>C (p.Val27Ala) rs1602348686
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly) rs1602350047
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) rs866253945
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter) rs748676943
NM_000166.6(GJB1):c.84del (p.Phe29fs) rs1602348695
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu) rs1602348703
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) rs104894817
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly) rs1602348720
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn) rs1602348722
NM_000183.3(HADHB):c.210-1G>C rs200777054
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter) rs1597632998
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.11del (p.Leu4fs) rs1597635843
NM_000304.4(PMP22):c.130_131del (p.Thr44fs) rs1597632943
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs) rs1597632913
NM_000304.4(PMP22):c.174_178+7del rs1597632803
NM_000304.4(PMP22):c.178+1G>C rs1597632815
NM_000304.4(PMP22):c.179-1G>A rs1597608220
NM_000304.4(PMP22):c.179-1G>C rs1597608220
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) rs1597608203
NM_000304.4(PMP22):c.193G>T (p.Val65Phe) rs1597608152
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.206T>G (p.Met69Arg) rs104894620
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro) rs940401899
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile) rs1597608049
NM_000304.4(PMP22):c.227del (p.Ser76fs) rs1597608057
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro) rs1597607967
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg) rs1597607967
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) rs778693173
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs) rs1597607713
NM_000304.4(PMP22):c.297del (p.Gly100fs) rs1597607665
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu) rs1597607638
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.312del (p.Ala106fs) rs1597607585
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg) rs1597607558
NM_000304.4(PMP22):c.318del (p.Gly107fs) rs1597607532
NM_000304.4(PMP22):c.319+1G>A rs1597607514
NM_000304.4(PMP22):c.320-1G>C rs1597597908
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg) rs1597597876
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg) rs1597597821
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs) rs1597597781
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.364_365del (p.Pro122fs) rs1597597725
NM_000304.4(PMP22):c.367del (p.Glu123fs) rs1597597710
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter) rs1597597683
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) rs1597597534
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg) rs1597597445
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs) rs1597597443
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly) rs28936682
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg) rs1597635677
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro) rs1597635666
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.75_78+2del rs1597635535
NM_000304.4(PMP22):c.78+1G>T rs1426969421
NM_000304.4(PMP22):c.78+5G>A rs1174594975
NM_000304.4(PMP22):c.79-2A>G rs1597633171
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) rs1442525908
NM_000304.4(PMP22):c.88G>A (p.Val30Met) rs377335295
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly) rs1589080632
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) rs1589080611
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1147G>C (p.Asp383His) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) rs749558026
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000530.8(MPZ):c.-10_-6dup rs1571822935
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.123_125del (p.Val42del) rs1571820248
NM_000530.8(MPZ):c.128G>T (p.Gly43Val) rs1571820237
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) rs121913598
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) rs1571820161
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) rs1571820161
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) rs1571820143
NM_000530.8(MPZ):c.149_151del (p.Cys50del) rs1553259792
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) rs1571820129
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) rs1553259785
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.190_192del (p.Phe64del) rs1571819975
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) rs1571819964
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) rs201720099
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) rs1571819911
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) rs1571819890
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) rs1571819875
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) rs573007540
NM_000530.8(MPZ):c.223del (p.Asp75fs) rs1571819824
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.235-1G>C rs1571819375
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.243C>G (p.His81Gln) rs1571819354
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) rs1553259707
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) rs1571819301
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) rs1060503418
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290_293del (p.Glu97fs) rs1571819196
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) rs121913590
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) rs1558154149
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) rs1571819127
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) rs1571819047
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) rs1468741050
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.346A>C (p.Asn116His) rs267607242
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) rs1571818972
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) rs1571818948
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) rs121913608
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.368G>T (p.Gly123Val) rs1553259656
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) rs1571818858
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) rs1571818905
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) rs1571818880
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) rs1571818845
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) rs772611598
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) rs1571818826
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) rs1571818819
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) rs1553259649
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) rs1571818800
NM_000530.8(MPZ):c.396_397del (p.Pro133fs) rs1571818797
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) rs1553259648
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) rs1571818775
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) rs1571818770
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.405A>G (p.Ile135Met) rs1571818752
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) rs863225025
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) rs863225025
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) rs1571818712
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) rs1571818702
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) rs1456458087
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) rs750724650
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) rs1571818648
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.436G>T (p.Val146Phe) rs1571818627
NM_000530.8(MPZ):c.437T>G (p.Val146Gly) rs1571818614
NM_000530.8(MPZ):c.449-1G>A rs1571818339
NM_000530.8(MPZ):c.449-1G>C rs1571818339
NM_000530.8(MPZ):c.449-1G>T rs1571818339
NM_000530.8(MPZ):c.449-9C>T rs750530042
NM_000530.8(MPZ):c.45T>G (p.Ala15=) rs1571822805
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) rs1571818312
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) rs1571818114
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) rs140671661
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) rs1571818007
NM_000530.8(MPZ):c.553del (p.Arg185fs) rs1571818002
NM_000530.8(MPZ):c.554del (p.Arg185fs) rs1571817993
NM_000530.8(MPZ):c.560_566del (p.Gln187fs) rs1571817945
NM_000530.8(MPZ):c.570del (p.Gln191fs) rs1571817919
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) rs761291277
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) rs932826788
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) rs1571817547
NM_000530.8(MPZ):c.626_630del (p.Ala209fs) rs1571817499
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup rs1571817455
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) rs1571817201
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) rs1571817197
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) rs1571817154
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) rs1571817154
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) rs1571817094
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) rs1571816993
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) rs1571816977
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001007792.1(NTRK1):c.1072G>A (p.Glu358Lys) rs1008878777
NM_001007792.1(NTRK1):c.1366G>A (p.Glu456Lys) rs144901788
NM_001007792.1(NTRK1):c.1443_1444insACATCGGG (p.Glu482fs) rs1571699222
NM_001007792.1(NTRK1):c.1447G>C (p.Gly483Arg) rs1571699241
NM_001007792.1(NTRK1):c.1456G>A (p.Gly486Arg) rs1571699266
NM_001007792.1(NTRK1):c.1582C>T (p.Leu528Phe) rs1571699773
NM_001007792.1(NTRK1):c.1625T>G (p.Val542Gly) rs1571699872
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028
NM_001007792.1(NTRK1):c.1646del (p.Leu549fs) rs1571699945
NM_001007792.1(NTRK1):c.1696C>T (p.Arg566Ter) rs763758904
NM_001007792.1(NTRK1):c.1759G>T (p.Gly587Cys) rs778746462
NM_001007792.1(NTRK1):c.1787_1788insA (p.Ser596fs) rs1571702751
NM_001007792.1(NTRK1):c.1838G>T (p.Arg613Leu) rs786205449
NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys) rs764992664
NM_001007792.1(NTRK1):c.2181C>G (p.Cys727Trp) rs1570912410
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu) rs756981419
NM_001007792.1(NTRK1):c.2200C>T (p.Gln734Ter) rs764816792
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs) rs1570912482
NM_001007792.1(NTRK1):c.2236C>T (p.Gln746Ter) rs1570912515
NM_001007792.1(NTRK1):c.406G>T (p.Gly136Ter) rs1571689630
NM_001007792.1(NTRK1):c.453del (p.Leu153fs) rs1485714154
NM_001007792.1(NTRK1):c.548T>C (p.Leu183Pro) rs747711259
NM_001007792.1(NTRK1):c.632dup (p.Gly212fs) rs1571693477
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs) rs1571695851
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys) rs121964869
NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.2(RETREG1):c.873+2T>C rs137852738
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg) rs1569829573
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs) rs763007983
NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met) rs146955132
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg) rs1599366542
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del) rs1599366474
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) rs1599366076
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs) rs1565921326
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs) rs751035912
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) rs150269814
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp) rs146174311
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) rs145734191
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro) rs1373209779
NM_001349253.2(SCN11A):c.4057-1G>A rs1575205608
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) rs1553630322
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp) rs1595430425
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs) rs1595415679
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) rs200328637
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) rs1574077431
NM_001371279.1(REEP1):c.304-2A>G rs387907242
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) rs587781248
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg) rs1554614432
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) rs1393404971
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.365-13C>T rs767168094
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) rs1554614650
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) rs1240900244
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala) rs1032400275
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp) rs772767500
NM_001550.3(IFRD1):c.514A>G (p.Ile172Val) rs150651401
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met) rs1597435885
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala) rs1571845049
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly) rs1571845049
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu) rs1554337168
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) rs1554337369
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) rs1554337979
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly) rs1594415592
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr) rs1594458556
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs) rs1392401882
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs) rs1594431701
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs) rs1594451999
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002506.2(NGF):c.560G>A (p.Ser187Asn) rs1571069395
NM_002506.2(NGF):c.680C>A (p.Thr227Lys) rs1326012011
NM_002506.2(NGF):c.681_682del (p.Ala228fs) rs1571069258
NM_002529.3(NTRK1):c.1633-1G>T rs1571699664
NM_002529.3(NTRK1):c.354_359+3del rs1571685736
NM_002529.3(NTRK1):c.359+5G>T rs1571685765
NM_002529.3(NTRK1):c.429-1G>C rs748672380
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His) rs1553465143
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe) rs765819985
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile) rs121909080
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) rs121909093
NM_004945.3(DNM2):c.1652_1659+1del rs1568314339
NM_004945.3(DNM2):c.1663_1665del (p.Lys555del) rs1599620398
NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del) rs1599620408
NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) rs121909088
NM_004945.3(DNM2):c.1697T>A (p.Leu566His) rs121909094
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe) rs1580684630
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.341A>G (p.His114Arg) rs1580682427
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) rs1580682390
NM_005548.2(KARS1):c.440_441dup (p.Arg148fs) rs1597170012
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) rs57848467
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg) rs1587953587
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) rs201211989
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_006736.6(DNAJB2):c.352+1G>A rs756614404
NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter) rs1601878982
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr) rs1565929090
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His) rs767902219
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) rs1583695317
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs) rs1583695328
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter) rs776090013
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.5(FIG4):c.877-2A>C rs143956557
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014874.3(MFN2):c.1040A>T (p.Glu347Val) rs1569853875
NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro) rs1569853900
NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala) rs1569853967
NM_014874.3(MFN2):c.1081C>T (p.His361Tyr) rs1569854012
NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro) rs879254011
NM_014874.3(MFN2):c.1126A>C (p.Met376Leu) rs863224967
NM_014874.3(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.3(MFN2):c.1127T>G (p.Met376Arg) rs1569854342
NM_014874.3(MFN2):c.1128G>A (p.Met376Ile) rs1553144059
NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro) rs1569854381
NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del) rs1569854405
NM_014874.3(MFN2):c.1144G>C (p.Ala382Pro) rs1553144066
NM_014874.3(MFN2):c.1150C>T (p.Arg384Trp) rs777353788
NM_014874.3(MFN2):c.1157_1158inv (p.Gln386Pro)
NM_014874.3(MFN2):c.1168T>C (p.Cys390Arg) rs1569859647
NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe) rs1569859660
NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro) rs138072432
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly) rs1557530247
NM_014874.3(MFN2):c.134A>G (p.Gln45Arg) rs1569802992
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr) rs1320374657
NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly) rs1569862824
NM_014874.3(MFN2):c.1537A>G (p.Ile513Val) rs755657087
NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro) rs373809750
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser) rs376925978
NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs) rs1569868729
NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr) rs755299545
NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe) rs1569870801
NM_014874.3(MFN2):c.1921T>C (p.Tyr641His) rs1569870930
NM_014874.3(MFN2):c.193G>T (p.Glu65Ter) rs1415276772
NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu) rs1569871448
NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser) rs1569871530
NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro) rs1569871653
NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro) rs1569882675
NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro) rs375937289
NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.3(MFN2):c.2140A>G (p.Ile714Val) rs779574187
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.3(MFN2):c.2200C>G (p.Leu734Val) rs900143738
NM_014874.3(MFN2):c.2213C>T (p.Ala738Val) rs1569889919
NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg) rs1557539004
NM_014874.3(MFN2):c.221A>G (p.Gln74Arg) rs1569815882
NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys) rs1060501925
NM_014874.3(MFN2):c.2222T>G (p.Leu741Trp) rs1553146559
NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg) rs1569890121
NM_014874.3(MFN2):c.2230G>A (p.Glu744Lys) rs1064794571
NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met) rs1569890153
NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro) rs1553146569
NM_014874.3(MFN2):c.2240T>C (p.Met747Thr) rs879254059
NM_014874.3(MFN2):c.2249A>C (p.His750Pro) rs1569890311
NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.3(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.3(MFN2):c.250A>G (p.Lys84Glu) rs1569816088
NM_014874.3(MFN2):c.275T>C (p.Leu92Pro) rs1569816285
NM_014874.3(MFN2):c.275T>G (p.Leu92Arg) rs1569816285
NM_014874.3(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.3(MFN2):c.281G>C (p.Arg94Pro) rs28940291
NM_014874.3(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.3(MFN2):c.299C>G (p.Ala100Gly) rs1553141707
NM_014874.3(MFN2):c.311+1G>T rs1569816606
NM_014874.3(MFN2):c.311G>A (p.Arg104Gln) rs863224068
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.313A>G (p.Thr105Ala) rs1553142428
NM_014874.3(MFN2):c.314C>G (p.Thr105Arg) rs863224069
NM_014874.3(MFN2):c.368C>T (p.Pro123Leu) rs1569829761
NM_014874.3(MFN2):c.377T>G (p.Ile126Ser) rs1334228742
NM_014874.3(MFN2):c.380G>A (p.Gly127Asp) rs1569829855
NM_014874.3(MFN2):c.380G>T (p.Gly127Val) rs1569829855
NM_014874.3(MFN2):c.383A>G (p.His128Arg) rs1569829894
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr) rs1569830013
NM_014874.3(MFN2):c.408= (p.Val136=)
NM_014874.3(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.3(MFN2):c.475-1G>C rs1569834500
NM_014874.3(MFN2):c.475-1G>T rs1569834500
NM_014874.3(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.3(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.3(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_014874.3(MFN2):c.494A>T (p.His165Leu) rs863224970
NM_014874.3(MFN2):c.496G>A (p.Ala166Thr) rs1569834732
NM_014874.3(MFN2):c.500T>C (p.Leu167Pro) rs1569834760
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.605G>C (p.Gly202Ala) rs1569842143
NM_014874.3(MFN2):c.609T>G (p.Ile203Met) rs1569842208
NM_014874.3(MFN2):c.612T>A (p.Asp204Glu) rs1569842258
NM_014874.3(MFN2):c.61A>G (p.Met21Val) rs1569802518
NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.3(MFN2):c.640G>A (p.Asp214Asn) rs1569842382
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.669T>A (p.Phe223Leu) rs1440006845
NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del) rs1569842627
NM_014874.3(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.3(MFN2):c.694A>G (p.Thr232Ala) rs1553143165
NM_014874.3(MFN2):c.695C>A (p.Thr232Asn) rs1569842764
NM_014874.3(MFN2):c.697C>G (p.Leu233Val) rs1569842803
NM_014874.3(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.3(MFN2):c.718T>A (p.Phe240Ile) rs1557525005
NM_014874.3(MFN2):c.742C>G (p.Leu248Val) rs1569843694
NM_014874.3(MFN2):c.748C>T (p.Arg250Trp) rs373107074
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.752C>G (p.Pro251Arg) rs1557525153
NM_014874.3(MFN2):c.752C>T (p.Pro251Leu) rs1557525153
NM_014874.3(MFN2):c.756C>A (p.Asn252Lys) rs137960129
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.776G>A (p.Arg259His) rs755065651
NM_014874.3(MFN2):c.776G>T (p.Arg259Leu) rs755065651
NM_014874.3(MFN2):c.787T>C (p.Ser263Pro) rs1283917064
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.821G>A (p.Arg274Gln) rs768407445
NM_014874.3(MFN2):c.828G>C (p.Gln276His) rs1569851570
NM_014874.3(MFN2):c.829C>T (p.His277Tyr) rs1569851586
NM_014874.3(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr) rs1569851731
NM_014874.3(MFN2):c.864G>C (p.Glu288Asp) rs1569851796
NM_014874.3(MFN2):c.922G>T (p.Glu308Ter) rs1553143852
NM_014874.3(MFN2):c.986_988del (p.Glu329del) rs1569853108
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488
NM_014874.4(MFN2):c.306dup (p.Gly103fs) rs777012596
NM_014874.4(MFN2):c.30dup (p.Ile11fs) rs1569802246
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) rs267607044
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015548.5(DST):c.2435C>T (p.Ala812Val) rs150656535
NM_015915.5(ATL1):c.976del (p.Val326fs) rs1595619553
NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro) rs1590978277
NM_016156.5(MTMR2):c.1593+1G>A rs1590970875
NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter) rs1590968942
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.5(MTMR2):c.358-2A>T rs1590997186
NM_016156.5(MTMR2):c.841_844del (p.Ile281fs) rs1590983942
NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp) rs1590983932
NM_016156.6(MTMR2):c.1534del (p.Leu512fs) rs1590970977
NM_016156.6(MTMR2):c.1593+1G>A
NM_016156.6(MTMR2):c.324del (p.Asn109fs) rs1590997478
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.100dup (p.Ser34fs) rs1586794271
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) rs1586794273
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) rs1586807668
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn) rs1586794314
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) rs1586795201
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) rs1586795216
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) rs1586795332
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) rs1586795452
NM_018972.4(GDAP1):c.310+3A>G rs1586795495
NM_018972.4(GDAP1):c.311-1G>A rs1370011538
NM_018972.4(GDAP1):c.332C>A (p.Pro111His) rs1586802999
NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs) rs1586803018
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) rs104894078
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) rs1174933176
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) rs1440200660
NM_018972.4(GDAP1):c.385G>C (p.Asp129His) rs1279013936
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) rs147295250
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) rs1586803273
NM_018972.4(GDAP1):c.439del (p.Thr147fs) rs1586803279
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) rs1443963090
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.485-2A>G rs1586804734
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) rs1586806206
NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) rs1586806206
NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) rs1586806217
NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) rs769449440
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) rs1378955867
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) rs1586807209
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) rs1472098057
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) rs1586807387
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837
NM_018972.4(GDAP1):c.864dup (p.Phe289fs) rs1586807423
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) rs1586807449
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018979.4(WNK1):c.1065_1066del (p.Phe356fs) rs1591884457
NM_018979.4(WNK1):c.1089_1090insT (p.Val364fs) rs1591884532
NM_018979.4(WNK1):c.1137dup (p.Ala380fs) rs1591884667
NM_018979.4(WNK1):c.640del (p.Met214fs) rs1591543044
NM_018979.4(WNK1):c.918_919insA (p.Gly307fs) rs1591818480
NM_019000.4(RETREG1):c.403del (p.Ser135fs) rs886037748
NM_020956.2(PRX):c.*1080_*1111del rs1599655871
NM_020956.2(PRX):c.*1120_*1128dup rs1170437868
NM_020956.2(PRX):c.*1129A>T rs1599655829
NM_020956.2(PRX):c.*1132T>G rs1599655820
NM_020956.2(PRX):c.*1295C>T rs144183238
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*1399_*1402del rs1599655206
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1844C>T rs1254691308
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2240C>T rs1469912467
NM_020956.2(PRX):c.*2249G>T rs761277865
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2756_*2757TC[1] rs1599652748
NM_020956.2(PRX):c.*2949A>T rs899773763
NM_020956.2(PRX):c.*3114G>A rs764162630
NM_020956.2(PRX):c.*3977_*3978delinsA rs1599650427
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*590_*599dup rs1599656972
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*794G>T rs753857146
NM_020956.2(PRX):c.*978_*979dup rs1599656136
NM_020956.2(PRX):c.116_117del (p.Lys39fs) rs1599662861
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.145G>T (p.Glu49Ter) rs1024162447
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile) rs1592820343
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser) rs387906904
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685
NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) rs1558872865
NM_022041.3(GAN):c.1312G>A (p.Val438Ile) rs1246053880
NM_022041.3(GAN):c.305T>C (p.Ile102Thr) rs1597401492
NM_022489.4(INF2):c.*10C>T rs142710295
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.170T>G (p.Leu57Arg) rs1595163736
NM_022489.4(INF2):c.203T>C (p.Phe68Ser) rs1595163801
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del) rs1595163808
NM_022489.4(INF2):c.206T>C (p.Leu69Pro) rs1595163820
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.230T>G (p.Leu77Arg) rs1595163851
NM_022489.4(INF2):c.314T>G (p.Val105Gly) rs1555373363
NM_022489.4(INF2):c.317G>C (p.Arg106Pro) rs1595164070
NM_022489.4(INF2):c.323T>A (p.Val108Asp) rs1595164081
NM_022489.4(INF2):c.341G>A (p.Gly114Asp) rs1595164091
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.494T>C (p.Leu165Pro) rs1595165937
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1285G>T (p.Glu429Ter) rs111995807
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro) rs1580900642
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer) rs1580900438
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp) rs1580899932
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2674C>T (p.Gln892Ter) rs757797985
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.2873-14T>A rs1580899613
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter) rs774698284
NM_024577.3(SH3TC2):c.3233_3234delAG rs1580889962
NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter) rs1580889866
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717
NM_024577.3(SH3TC2):c.3676-1G>A rs1306229414
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.530-1G>A rs1580910061
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile) rs368872316
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs) rs1580900732
NM_024577.4(SH3TC2):c.253del (p.Asp85fs) rs1580914356
NM_024577.4(SH3TC2):c.3305del (p.His1102fs) rs1580889892
NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1537C>T (p.Gln513Ter) rs1480710758
NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser) rs1590131053
NM_030962.3(SBF2):c.4443+1G>C rs1564872328
NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter) rs1384571991
NM_030962.3(SBF2):c.862-2A>G rs1590716243
NM_032667.6(BSCL2):c.269C>G (p.Ser90Trp) rs137852973
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.2046+1G>T rs1588143215
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_139241.3(FGD4):c.1132+1G>A rs1592388367
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter) rs1592488602
NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs) rs1592489096
NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs) rs1592489165
NM_139241.3(FGD4):c.514dup (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.837-1G>A rs1592368399
NM_139241.3(FGD4):c.837-2A>G rs1592368395
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_153321.3(PMP22):c.433dup (p.Leu145fs) rs1567698872
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_170707.4(LMNA):c.1698+13C>T rs80338938
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) rs140455668
NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn) rs777900936
NM_170707.4(LMNA):c.864_867del (p.His289fs) rs60168366
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243

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