ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1137
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HGVS dbSNP
NC_012920.1:m.9185T>C rs199476138
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
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110del (p.Val37fs)
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
NM_000166.6(GJB1):c.115del (p.Ala39fs)
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.116del (p.Ala39fs)
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.155del (p.Ile52fs)
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
NM_000166.6(GJB1):c.217del (p.His73fs)
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
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)
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
NM_000166.6(GJB1):c.313del (p.Met105fs)
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
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)
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
NM_000166.6(GJB1):c.358_360del (p.Val120del)
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
NM_000166.6(GJB1):c.371del (p.Lys124fs)
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
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)
NM_000166.6(GJB1):c.397del (p.Trp133fs)
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
NM_000166.6(GJB1):c.410del (p.Ile137fs)
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.424del (p.Arg142fs)
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del)
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
NM_000166.6(GJB1):c.439del (p.Ala147fs)
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.43del (p.Arg15fs)
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
NM_000166.6(GJB1):c.454del (p.Val152fs)
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
NM_000166.6(GJB1):c.474del (p.Gly159fs)
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
NM_000166.6(GJB1):c.484dup (p.Met162fs)
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
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)
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
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)
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
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)
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
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)
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer)
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) rs771579861
NM_000166.6(GJB1):c.576del (p.Phe193fs)
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
NM_000166.6(GJB1):c.606del (p.Ile203fs)
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del)
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
NM_000166.6(GJB1):c.62del (p.Gly21fs)
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
NM_000166.6(GJB1):c.634del (p.Leu212fs)
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
NM_000166.6(GJB1):c.656G>A (p.Arg219His)
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)
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) rs200774406
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
NM_000166.6(GJB1):c.772del (p.Ser258fs)
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77del (p.Ser26fs)
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
NM_000166.6(GJB1):c.800del (p.Pro267fs)
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
NM_000166.6(GJB1):c.822del (p.Glu275fs)
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
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)
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
NM_000166.6(GJB1):c.84del (p.Phe29fs)
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
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)
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)
NM_000183.3(HADHB):c.210-1G>C rs200777054
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.11del (p.Leu4fs)
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.174_178+7del
NM_000304.4(PMP22):c.178+1G>C
NM_000304.4(PMP22):c.179-1G>C
NM_000304.4(PMP22):c.179-2A>G
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
NM_000304.4(PMP22):c.227del (p.Ser76fs)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
NM_000304.4(PMP22):c.297del (p.Gly100fs)
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.312del (p.Ala106fs)
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
NM_000304.4(PMP22):c.318del (p.Gly107fs)
NM_000304.4(PMP22):c.319+1G>A
NM_000304.4(PMP22):c.320-1G>C
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
NM_000304.4(PMP22):c.367del (p.Glu123fs)
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.75_78+2del
NM_000304.4(PMP22):c.76del (p.Ser26fs)
NM_000304.4(PMP22):c.78+1G>T
NM_000304.4(PMP22):c.78+5G>A
NM_000304.4(PMP22):c.79-2A>G
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1147G>C (p.Asp383His)
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
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
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.128G>T (p.Gly43Val)
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.136G>A (p.Val46Met)
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
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.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
NM_000530.8(MPZ):c.223del (p.Asp75fs)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.235-1G>C
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)
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
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)
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
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)
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)
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.405A>G (p.Ile135Met)
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
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)
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
NM_000530.8(MPZ):c.449-1G>A
NM_000530.8(MPZ):c.449-1G>C
NM_000530.8(MPZ):c.449-1G>T
NM_000530.8(MPZ):c.449-9C>T
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
NM_000530.8(MPZ):c.486del (p.Ile162fs)
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.543C>G (p.Tyr181Ter)
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
NM_000530.8(MPZ):c.553del (p.Arg185fs)
NM_000530.8(MPZ):c.554del (p.Arg185fs)
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
NM_000530.8(MPZ):c.560del (p.Gln187fs)
NM_000530.8(MPZ):c.570del (p.Gln191fs)
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
NM_000530.8(MPZ):c.68-5_71del
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
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.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.1664_1671+1del rs1568314339
NM_001005360.2(DNM2):c.1675_1677del (p.Lys559del)
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001005361.2(DNM2):c.1681_1683AAG[1] (p.Lys562del)
NM_001007245.2(IFRD1):c.514A>G (p.Ile172Val)
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.826del (p.Ser276fs) rs886037748
NM_001034850.2(RETREG1):c.873+2T>C rs137852738
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_001039550.2(DNAJB2):c.229+1G>A rs730882139
NM_001039550.2(DNAJB2):c.352+1G>A rs756614404
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) rs587781247
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs)
NM_001130089.1(KARS1):c.524_525dup (p.Arg176fs)
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met)
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg)
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del)
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
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.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
NM_001164731.2(REEP1):c.223-2A>G rs387907242
NM_001164731.2(REEP1):c.25-18131T>A
NM_001164731.2(REEP1):c.524A>G (p.Ter175Trp) rs587781248
NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) rs1565921326
NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs) rs751035912
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp)
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)
NM_001349253.2(SCN11A):c.4057-1G>A
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)
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)
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_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
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
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
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)
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
NM_001540.5(HSPB1):c.505del (p.Met169fs)
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) rs199997425
NM_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala)
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly)
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1031+1G>A
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
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.1809+1G>A
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1463del (p.Leu488fs)
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
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)
NM_002506.2(NGF):c.560G>A (p.Ser187Asn)
NM_002506.2(NGF):c.680C>A (p.Thr227Lys)
NM_002506.2(NGF):c.681_682del (p.Ala228fs)
NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.3(NTRK1):c.1162G>A (p.Glu388Lys)
NM_002529.3(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788
NM_002529.3(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs)
NM_002529.3(NTRK1):c.1555G>C (p.Gly519Arg)
NM_002529.3(NTRK1):c.1564G>A (p.Gly522Arg)
NM_002529.3(NTRK1):c.1633-1G>T
NM_002529.3(NTRK1):c.1690C>T (p.Leu564Phe)
NM_002529.3(NTRK1):c.1733T>G (p.Val578Gly)
NM_002529.3(NTRK1):c.1754del (p.Leu585fs)
NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904
NM_002529.3(NTRK1):c.1867G>T (p.Gly623Cys)
NM_002529.3(NTRK1):c.1895_1896insA (p.Ser632fs)
NM_002529.3(NTRK1):c.1946G>T (p.Arg649Leu)
NM_002529.3(NTRK1):c.1960C>T (p.Arg654Cys)
NM_002529.3(NTRK1):c.2289C>G (p.Cys763Trp)
NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)
NM_002529.3(NTRK1):c.2308C>T (p.Gln770Ter)
NM_002529.3(NTRK1):c.2328dup (p.Val777fs)
NM_002529.3(NTRK1):c.2344C>T (p.Gln782Ter)
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser)
NM_002529.3(NTRK1):c.354_359+3del
NM_002529.3(NTRK1):c.359+5G>T
NM_002529.3(NTRK1):c.429-1G>C
NM_002529.3(NTRK1):c.496G>T (p.Gly166Ter)
NM_002529.3(NTRK1):c.543del (p.Leu183fs)
NM_002529.3(NTRK1):c.574+1G>A
NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) rs747711259
NM_002529.3(NTRK1):c.722dup (p.Gly242fs)
NM_002529.3(NTRK1):c.924_930del (p.Gln308fs)
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002977.3(SCN9A):c.3993delinsTT (p.Leu1331fs) rs606231279
NM_002977.3(SCN9A):c.4596G>A (p.Met1532Ile)
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_003912.1:c.1480_1593del
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His)
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe)
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
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)
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)
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_006400.4(DCTN2):c.337C>T (p.His113Tyr) rs863223327
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg)
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His)
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter)
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr)
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) rs147531758
NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His)
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs)
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer) rs1554303811
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter)
NM_014845.5(FIG4):c.1986dup (p.Lys663fs)
NM_014845.5(FIG4):c.2299dup (p.Glu767fs)
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)
NM_014845.5(FIG4):c.877-2A>C
NM_014874.3(MFN2):c.1040A>T (p.Glu347Val)
NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro)
NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala)
NM_014874.3(MFN2):c.1081C>T (p.His361Tyr)
NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro)
NM_014874.3(MFN2):c.1126A>C (p.Met376Leu)
NM_014874.3(MFN2):c.1127T>C (p.Met376Thr)
NM_014874.3(MFN2):c.1127T>G (p.Met376Arg)
NM_014874.3(MFN2):c.1128G>A (p.Met376Ile) rs1553144059
NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro)
NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del)
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)
NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe)
NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro)
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)
NM_014874.3(MFN2):c.1392+1G>A
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr)
NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly)
NM_014874.3(MFN2):c.1537A>G (p.Ile513Val) rs755657087
NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro)
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser)
NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs)
NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr)
NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe)
NM_014874.3(MFN2):c.1921T>C (p.Tyr641His)
NM_014874.3(MFN2):c.193G>T (p.Glu65Ter)
NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu)
NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser)
NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro)
NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter)
NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro)
NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro)
NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.3(MFN2):c.2140A>G (p.Ile714Val)
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)
NM_014874.3(MFN2):c.2213C>T (p.Ala738Val)
NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg)
NM_014874.3(MFN2):c.221A>G (p.Gln74Arg)
NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys)
NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg)
NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met)
NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro)
NM_014874.3(MFN2):c.2240T>C (p.Met747Thr)
NM_014874.3(MFN2):c.2249A>C (p.His750Pro)
NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) rs1557539119
NM_014874.3(MFN2):c.2258dup (p.Gln754fs)
NM_014874.3(MFN2):c.239G>T (p.Gly80Val)
NM_014874.3(MFN2):c.250A>G (p.Lys84Glu)
NM_014874.3(MFN2):c.275T>C (p.Leu92Pro)
NM_014874.3(MFN2):c.275T>G (p.Leu92Arg)
NM_014874.3(MFN2):c.280C>G (p.Arg94Gly)
NM_014874.3(MFN2):c.281G>C (p.Arg94Pro)
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.306dup (p.Gly103fs)
NM_014874.3(MFN2):c.30dup (p.Ile11fs)
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.311+1G>T
NM_014874.3(MFN2):c.311G>A (p.Arg104Gln)
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)
NM_014874.3(MFN2):c.368C>T (p.Pro123Leu)
NM_014874.3(MFN2):c.377T>G (p.Ile126Ser)
NM_014874.3(MFN2):c.380G>A (p.Gly127Asp)
NM_014874.3(MFN2):c.380G>T (p.Gly127Val)
NM_014874.3(MFN2):c.383A>G (p.His128Arg)
NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr)
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
NM_014874.3(MFN2):c.475-1G>T
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)
NM_014874.3(MFN2):c.496G>A (p.Ala166Thr)
NM_014874.3(MFN2):c.500T>C (p.Leu167Pro)
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.605G>C (p.Gly202Ala)
NM_014874.3(MFN2):c.609T>G (p.Ile203Met)
NM_014874.3(MFN2):c.612T>A (p.Asp204Glu)
NM_014874.3(MFN2):c.61A>G (p.Met21Val)
NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) rs1557524703
NM_014874.3(MFN2):c.640G>A (p.Asp214Asn)
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.669T>A (p.Phe223Leu)
NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del)
NM_014874.3(MFN2):c.692C>T (p.Ser231Phe)
NM_014874.3(MFN2):c.694A>G (p.Thr232Ala)
NM_014874.3(MFN2):c.695C>A (p.Thr232Asn)
NM_014874.3(MFN2):c.697C>G (p.Leu233Val)
NM_014874.3(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.3(MFN2):c.718T>A (p.Phe240Ile)
NM_014874.3(MFN2):c.742C>G (p.Leu248Val)
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
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)
NM_014874.3(MFN2):c.756C>A (p.Asn252Lys)
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.776G>A (p.Arg259His)
NM_014874.3(MFN2):c.776G>T (p.Arg259Leu)
NM_014874.3(MFN2):c.787T>C (p.Ser263Pro)
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.821G>A (p.Arg274Gln)
NM_014874.3(MFN2):c.828G>C (p.Gln276His)
NM_014874.3(MFN2):c.829C>T (p.His277Tyr)
NM_014874.3(MFN2):c.830A>G (p.His277Arg) rs1064794316
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr)
NM_014874.3(MFN2):c.864G>C (p.Glu288Asp)
NM_014874.3(MFN2):c.922G>T (p.Glu308Ter)
NM_014874.3(MFN2):c.986_988del (p.Glu329del)
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter) rs587781249
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_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_015915.4(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_015915.4(ATL1):c.976del (p.Val326fs)
NM_016156.5(MTMR2):c.*53G>A rs587779387
NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro)
NM_016156.5(MTMR2):c.1534del (p.Leu512fs)
NM_016156.5(MTMR2):c.1593+1G>A
NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter)
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu)
NM_016156.5(MTMR2):c.324del (p.Asn109fs)
NM_016156.5(MTMR2):c.358-2A>T
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.841_844del (p.Ile281fs)
NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp)
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.100dup (p.Ser34fs)
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys)
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg)
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs)
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu)
NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter)
NM_018972.4(GDAP1):c.310+3A>G
NM_018972.4(GDAP1):c.311-1G>A
NM_018972.4(GDAP1):c.332C>A (p.Pro111His)
NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs)
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly)
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln)
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys)
NM_018972.4(GDAP1):c.385G>C (p.Asp129His)
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys)
NM_018972.4(GDAP1):c.433_437del (p.Glu145fs)
NM_018972.4(GDAP1):c.439del (p.Thr147fs)
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.485-2A>G
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
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)
NM_018972.4(GDAP1):c.656T>G (p.Val219Gly)
NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys)
NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter)
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys)
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)
NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp)
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val)
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)
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys)
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
NM_018972.4(GDAP1):c.864dup (p.Phe289fs)
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys)
NM_018972.4(GDAP1):c.928del (p.Arg310fs)
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018979.4(WNK1):c.1065_1066del (p.Phe356fs)
NM_018979.4(WNK1):c.1089_1090insT (p.Val364fs)
NM_018979.4(WNK1):c.1137dup (p.Ala380fs)
NM_018979.4(WNK1):c.640del (p.Met214fs)
NM_018979.4(WNK1):c.918_919insA (p.Gly307fs)
NM_020956.2(PRX):c.*1080_*1111del
NM_020956.2(PRX):c.*1129A>T
NM_020956.2(PRX):c.*1132T>G
NM_020956.2(PRX):c.*1295C>T
NM_020956.2(PRX):c.*1378del
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1844C>T
NM_020956.2(PRX):c.*2069C>T
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2249G>T
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2626del
NM_020956.2(PRX):c.*2756_*2757TC[1]
NM_020956.2(PRX):c.*2949A>T
NM_020956.2(PRX):c.*3114G>A
NM_020956.2(PRX):c.*3304del
NM_020956.2(PRX):c.*3403del
NM_020956.2(PRX):c.*3977_*3978delinsA
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*794G>T
NM_020956.2(PRX):c.*847dup
NM_020956.2(PRX):c.*935del
NM_020956.2(PRX):c.*978_*979dup
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile)
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)
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr)
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) rs1558872865
NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) rs587779384
NM_022041.3(GAN):c.1312G>A (p.Val438Ile)
NM_022041.3(GAN):c.23C>G (p.Ser8Cys) rs587781251
NM_022041.3(GAN):c.305T>C (p.Ile102Thr)
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
NM_022489.4(INF2):c.170T>G (p.Leu57Arg)
NM_022489.4(INF2):c.203T>C (p.Phe68Ser)
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
NM_022489.4(INF2):c.230T>G (p.Leu77Arg)
NM_022489.4(INF2):c.314T>G (p.Val105Gly)
NM_022489.4(INF2):c.317G>C (p.Arg106Pro)
NM_022489.4(INF2):c.323T>A (p.Val108Asp)
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
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)
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)
NM_024577.3(SH3TC2):c.1915del (p.Ala639fs)
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro)
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer)
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.253del (p.Asp85fs)
NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp)
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)
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.2873-14T>A
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.2989del (p.Arg997fs)
NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter)
NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter)
NM_024577.3(SH3TC2):c.3233_3234delAG
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3305del (p.His1102fs)
NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter)
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp)
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.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3676-1G>A
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.530-1G>A
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile)
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.688del (p.Val230fs)
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter)
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1537C>T (p.Gln513Ter)
NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser)
NM_030962.3(SBF2):c.4443+1G>C
NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter)
NM_030962.3(SBF2):c.862-2A>G
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
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
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_139241.3(FGD4):c.1132+1G>A
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile)
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter)
NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs)
NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs)
NM_139241.3(FGD4):c.514dup (p.Ala172fs)
NM_139241.3(FGD4):c.837-1G>A
NM_139241.3(FGD4):c.837-2A>G
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1698+13C>T rs80338938
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) rs140455668
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814
NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn)
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.864_867del (p.His289fs) rs60168366
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821
NM_181882.2(PRX):c.915_923dup (p.305_307TLP[3])
Single allele

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