ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4019
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HGVS dbSNP
NC_000001.10:g.(?_33241563)_(46663513_?)dup
NC_000001.10:g.(?_33276192)_(33276658_?)del
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000009.11:g.(?_130265053)_(130265780_?)del
NC_000011.9:g.(?_10049989)_(10215544_?)del
NC_000011.9:g.(?_68675593)_(68676119_?)del
NC_000012.11:g.(?_32751411)_(32751540_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000014.8:g.(?_102391478)_(102431284_?)del
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105167693)_(105170300_?)del
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000019.9:g.(?_10828899)_(10870507_?)dup
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000023.10:g.(?_24483553)_(24483698_?)del
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_24512839)_(24557301_?)del
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
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.235C>T (p.Leu79=) rs144717157
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.244A>G (p.Ile82Val)
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.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.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.670C>T (p.Arg224Cys) rs1426533412
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
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.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.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.80T>C (p.Val27Ala)
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.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_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
NM_000304.3(PMP22):c.-223C>T rs549380262
NM_000304.4(PMP22):c.*1049C>G rs750733887
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*985C>T rs886052610
NM_000304.4(PMP22):c.-34-5C>T rs375105159
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.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.185T>G (p.Leu62Arg) rs756046682
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.212T>C (p.Leu71Pro)
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
NM_000304.4(PMP22):c.227del (p.Ser76fs)
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
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)
NM_000304.4(PMP22):c.297del (p.Gly100fs)
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
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.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
NM_000304.4(PMP22):c.367del (p.Glu123fs)
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
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.433dup (p.Leu145fs)
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
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)
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.75_78+2del
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.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
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_000399.5(EGR2):c.380C>T (p.Pro127Leu)
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-10_-6dup
NM_000530.8(MPZ):c.-49C>A rs750777955
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.123_125del (p.Val42del)
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
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.133C>T (p.Arg45Trp) rs200151353
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.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
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.199C>T (p.Arg67Cys)
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
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.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.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
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>A (p.Gly123Asp) rs1553259656
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.372_377del (p.Phe125_Thr126del)
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
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.407T>A (p.Val136Glu)
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
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.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.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.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
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.570del (p.Gln191fs)
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.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
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.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>C (p.Ile30Thr) rs281865121
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_000902.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_000902.4(MME):c.1904G>A (p.Gly635Asp) rs151302020
NM_000902.4(MME):c.769C>A (p.Arg257Ser) rs145687755
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.1010G>T (p.Gly337Val)
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) rs879253980
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)
NM_001005360.2(DNM2):c.1335+1G>A
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1664_1671+1del rs1568314339
NM_001005360.2(DNM2):c.1671+3G>C
NM_001005360.2(DNM2):c.1675_1677del (p.Lys559del)
NM_001005360.2(DNM2):c.1681_1683AAG[1] (p.Lys562del)
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.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T rs1568318838
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005360.2(DNM2):c.2100_2102CTC[1] (p.Ser702del)
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005360.2(DNM2):c.2291+4C>T
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005360.2(DNM2):c.2544_2546delCAG rs1568325729
NM_001005360.2(DNM2):c.2573_2575CCA[1] (p.Thr859del)
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
NM_001005360.2(DNM2):c.384C>T (p.His128=)
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)
NM_001005360.2(DNM2):c.699C>T (p.Gly233=) rs751844947
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu) rs377159042
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
NM_001005360.2(DNM2):c.819C>T (p.Gly273=) rs1464745378
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys) rs760254039
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser) rs890297188
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005360.2(DNM2):c.992+4T>C rs1225723240
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_001126131.1(POLG):c.[1491G>C(;)2243G>C]
NM_001130089.1(KARS1):c.1262G>A (p.Arg421Gln) rs149772470
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_001135242.2(NDRG1):c.64-20dup rs756038946
NM_001136473.1(LITAF):c.*107C>T
NM_001136473.1(LITAF):c.*118G>A rs864622744
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.*43C>T
NM_001136473.1(LITAF):c.*49G>A
NM_001136473.1(LITAF):c.*51G>A
NM_001136473.1(LITAF):c.*57G>A
NM_001136473.1(LITAF):c.*63C>T
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.17-3C>T
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
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_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) rs1555938741
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=) rs754338828
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3]) rs1555938722
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
NM_001303256.3(MORC2):c.1370-3C>T
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr) rs1569192031
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=) rs1345120667
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
NM_001303256.3(MORC2):c.1605-3C>T
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln) rs768807060
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) rs780648306
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe) rs1569188333
NM_001303256.3(MORC2):c.2747+6T>C
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
NM_001303256.3(MORC2):c.3030+6C>G
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) rs748216749
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys) rs371713427
NM_001303256.3(MORC2):c.713G>A (p.Arg238His) rs367766290
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu) rs368260550
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg) rs1555939986
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) rs987083509
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu) rs772766261
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu) rs199973357
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376
NM_001303256.3(MORC2):c.988-10A>G rs370880177
NM_001304480.1(FGD4):c.193A>T (p.Ile65Leu) rs886049253
NM_001304480.1(FGD4):c.301C>A (p.Pro101Thr) rs199744649
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
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.1970del (p.Val657fs) rs1555378419
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.10070A>G (p.Glu3357Gly)
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp) rs1315999225
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe) rs1567019533
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn) rs768668529
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
NM_001376.5(DYNC1H1):c.11055+6G>A
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=) rs750305144
NM_001376.5(DYNC1H1):c.11941+2T>A
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=) rs1446298826
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg) rs1060499574
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
NM_001376.5(DYNC1H1):c.12514-3C>T rs761866611
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.13006+4G>A
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu) rs747829220
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr) rs768797999
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr) rs1567025279
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile) rs1555412618
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn) rs1243385324
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr) rs1567026040
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=) rs1555412704
NM_001376.5(DYNC1H1):c.13516-10C>A
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del) rs1013209915
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val) rs1566991081
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn) rs750353606
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=) rs1057522046
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu) rs775528195
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
NM_001376.5(DYNC1H1):c.345-3T>G rs1060502203
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met) rs749548033
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu) rs1131691955
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr) rs1567006255
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile) rs367614843
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr) rs1567006359
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5050-3C>T
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met) rs780345145
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr) rs144147463
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
NM_001376.5(DYNC1H1):c.5433_5433+27dup
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val) rs1566996430
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His) rs1028991666
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
NM_001376.5(DYNC1H1):c.7242+5G>A
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
NM_001376.5(DYNC1H1):c.8343+5G>A
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) rs1566996726
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys) rs1567017804
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>A
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
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.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
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.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
NM_001540.5(HSPB1):c.365-13C>T
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
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.428C>A (p.Thr143Lys)
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) rs142850278
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.618G>T (p.Gln206His)
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.1186G>A (p.Val396Ile) rs1060502836
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.2042C>T (p.Pro681Leu) rs879254346
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920
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_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys) rs1554106881
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro)
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)
NM_002180.2(IGHMBP2):c.1463del (p.Leu488fs)
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)
NM_002180.2(IGHMBP2):c.1632+4C>T rs775832239
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1756+4C>T rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg)
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp)
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.2(IGHMBP2):c.2456C>T (p.Pro819Leu)
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His) rs761191746
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His)
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His)
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser)
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.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_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002977.3(SCN9A):c.3993delinsTT (p.Leu1331fs) rs606231279
NM_002977.3(SCN9A):c.4596G>A (p.Met1532Ile)
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
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.1012A>G (p.Ser338Gly)
NM_003680.3(YARS1):c.1042+3A>C rs772446297
NM_003680.3(YARS1):c.1048A>G (p.Met350Val) rs1553122785
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr) rs1490757097
NM_003680.3(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp)
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln)
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr)
NM_003680.3(YARS1):c.1180G>A (p.Val394Met) rs863224717
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp)
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu)
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro)
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer)
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser)
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.3(YARS1):c.1531A>G (p.Met511Val)
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) rs371220818
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr)
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr)
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn)
NM_003680.3(YARS1):c.205-2A>G rs538137948
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg)
NM_003680.3(YARS1):c.211A>G (p.Ile71Val) rs145768628
NM_003680.3(YARS1):c.221C>T (p.Ala74Val) rs1429267110
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) rs1553127237
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr)
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr)
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg) rs1473184666
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp)
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr)
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg)
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) rs1553123310
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala) rs1553123307
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) rs1009349245
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
NM_003680.3(YARS1):c.821-3T>C
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn)
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_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
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_004637.5(RAB7A):c.551A>G (p.Asn184Ser) rs752824265
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val)
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1754-1G>C
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.217-3C>T
NM_005340.7(HINT1):c.237T>A (p.Ile79=)
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.1126G>A (p.Ala376Thr)
NM_005391.4(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_005391.4(PDK3):c.320+6T>C rs748960946
NM_005391.4(PDK3):c.474C>T (p.Arg158=)
NM_005391.4(PDK3):c.486C>T (p.Arg162=)
NM_005391.4(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_005391.4(PDK3):c.582G>A (p.Ala194=)
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.4(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_005391.4(PDK3):c.811A>G (p.Lys271Glu)
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln)
NM_006070.6(TFG):c.237G>T (p.Gln79His)
NM_006070.6(TFG):c.290T>A (p.Leu97His)
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900
NM_006070.6(TFG):c.310T>C (p.Tyr104His)
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266
NM_006070.6(TFG):c.458C>T (p.Ser153Phe)
NM_006070.6(TFG):c.482T>C (p.Met161Thr)
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.545T>C (p.Met182Thr)
NM_006070.6(TFG):c.68G>A (p.Arg23Gln)
NM_006070.6(TFG):c.716T>C (p.Ile239Thr)
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.743A>G (p.Gln248Arg)
NM_006070.6(TFG):c.754G>A (p.Gly252Ser)
NM_006070.6(TFG):c.792G>T (p.Gln264His)
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965
NM_006070.6(TFG):c.882A>C (p.Gln294His)
NM_006070.6(TFG):c.898C>T (p.Pro300Ser)
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)
NM_006096.3(NDRG1):c.*1195G>T rs561506934
NM_006096.3(NDRG1):c.*1294T>C rs144034977
NM_006096.3(NDRG1):c.*1296C>T rs886062711
NM_006096.3(NDRG1):c.*1340G>A rs12668
NM_006096.3(NDRG1):c.*1473G>A rs187466317
NM_006096.3(NDRG1):c.*1706G>A rs781277187
NM_006096.3(NDRG1):c.*184G>A rs778104868
NM_006096.3(NDRG1):c.*201A>T rs886062715
NM_006096.3(NDRG1):c.*306C>T rs886062714
NM_006096.3(NDRG1):c.*402C>T rs551081194
NM_006096.3(NDRG1):c.*618T>G rs886062713
NM_006096.3(NDRG1):c.*677C>T rs886062712
NM_006096.3(NDRG1):c.-123T>G rs886062718
NM_006096.3(NDRG1):c.-128C>T rs886062719
NM_006096.3(NDRG1):c.-157C>T rs545130040
NM_006096.3(NDRG1):c.-173G>A rs886062720
NM_006096.3(NDRG1):c.-19+14C>G rs886062716
NM_006096.3(NDRG1):c.-64G>A rs886062717
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His) rs1392179290
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) rs144714216
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) rs1554747479
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln)
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp)
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) rs181121989
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu)
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=)
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr)
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg)
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp)
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser) rs780329667
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly)
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr)
NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) rs200593999
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=)
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro)
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg)
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu)
NM_006096.3(NDRG1):c.571G>A (p.Val191Met)
NM_006096.3(NDRG1):c.582C>G (p.His194Gln)
NM_006096.3(NDRG1):c.595-6A>G rs1554749794
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) rs138839833
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys)
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) rs143549909
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) rs772268356
NM_006096.3(NDRG1):c.704G>A (p.Arg235His) rs748331213
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala)
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.855+14_855+15del rs780070007
NM_006096.3(NDRG1):c.891+5G>A rs150968034
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) rs753836263
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) rs368061370
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu)
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr)
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met)
NM_006158.4(NEFL):c.1044+5G>C
NM_006158.4(NEFL):c.1044G>A (p.Gln348=)
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val) rs1563251398
NM_006158.4(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1185C>T (p.Gly395=) rs751512030
NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln)
NM_006158.4(NEFL):c.1213G>A (p.Val405Met)
NM_006158.4(NEFL):c.1261C>A (p.Arg421=) rs191346286
NM_006158.4(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys)
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile)
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) rs1554497354
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) rs1045761358
NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys)
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys)
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg)
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) rs57848467
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) rs755889503
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser)
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.4(NEFL):c.270G>C (p.Glu90Asp) rs767370918
NM_006158.4(NEFL):c.289C>A (p.Leu97Ile)
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn)
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys)
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln)
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly)
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn)
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys)
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.598G>C (p.Asp200His)
NM_006158.4(NEFL):c.608C>T (p.Ala203Val)
NM_006158.4(NEFL):c.637A>G (p.Ile213Val)
NM_006158.4(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.4(NEFL):c.677T>C (p.Val226Ala)
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly)
NM_006158.4(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.4(NEFL):c.716A>G (p.Gln239Arg) rs1170226456
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu)
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.4(NEFL):c.808G>T (p.Ala270Ser)
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.4(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987
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_006640.4(SEPTIN9):c.812G>A (p.Arg271His) rs587781247
NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter)
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
NM_014365.2(HSPB8):c.164G>A (p.Arg55His)
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val)
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys)
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu)
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln)
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr)
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe)
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr)
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala)
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys)
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg)
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr)
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln)
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) rs1467438651
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) rs1437730951
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) rs143290224
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) rs147531758
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) rs1563343679
NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His)
NM_014845.5(FIG4):c.*150_*151del rs886060986
NM_014845.5(FIG4):c.-112G>A rs757848529
NM_014845.5(FIG4):c.-124A>G rs544958043
NM_014845.5(FIG4):c.-132A>G rs548471516
NM_014845.5(FIG4):c.-134C>G rs560811735
NM_014845.5(FIG4):c.-138T>C rs550585093
NM_014845.5(FIG4):c.-84A>G rs764845399
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His)
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs)
NM_014845.5(FIG4):c.1187C>G (p.Ala396Gly)
NM_014845.5(FIG4):c.1187C>T (p.Ala396Val)
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys)
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer) rs1554303811
NM_014845.5(FIG4):c.1271+5A>G
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly)
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly)
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp)
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.155T>C (p.Ile52Thr)
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter)
NM_014845.5(FIG4):c.1750+3A>G
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu)
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys)
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.1986dup (p.Lys663fs)
NM_014845.5(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln)
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys)
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys)
NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser)
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2181-10C>A
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.243A>G (p.Lys81=) rs200257799
NM_014845.5(FIG4):c.2459+5G>A
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-11A>G rs745613994
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2547-4A>G rs886060985
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.2661dup (p.Gln888fs)
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys)
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys)
NM_014845.5(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.512_514del (p.Leu171del)
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe)
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu)
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs)
NM_014845.5(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr)
NM_014845.5(FIG4):c.877-2A>C
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
NM_014874.3(MFN2):c.*1068C>T rs886045229
NM_014874.3(MFN2):c.*1153C>T rs542684406
NM_014874.3(MFN2):c.*121A>G rs886045222
NM_014874.3(MFN2):c.*1276G>A rs766342161
NM_014874.3(MFN2):c.*1295G>A rs763783578
NM_014874.3(MFN2):c.*1392A>G rs886045230
NM_014874.3(MFN2):c.*1539G>A rs557643473
NM_014874.3(MFN2):c.*1640del rs35943162
NM_014874.3(MFN2):c.*1640dup rs35943162
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*1794_*1796del rs540280019
NM_014874.3(MFN2):c.*1800_*1802delGTT rs140537612
NM_014874.3(MFN2):c.*256G>A rs557772799
NM_014874.3(MFN2):c.*297T>A rs886045224
NM_014874.3(MFN2):c.*36G>A rs377468070
NM_014874.3(MFN2):c.*413C>T rs558887681
NM_014874.3(MFN2):c.*57C>T rs886045221
NM_014874.3(MFN2):c.*610del rs747291228
NM_014874.3(MFN2):c.*864T>C rs886045226
NM_014874.3(MFN2):c.*870C>T rs886045227
NM_014874.3(MFN2):c.*935G>T rs886045228
NM_014874.3(MFN2):c.*946C>A rs765105334
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-328T>A rs886045217
NM_014874.3(MFN2):c.-344C>T rs886045216
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.107_109AGA[2] (p.Lys38del) rs1478175861
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.1143_1145GGC[1] (p.Ala383del) rs1553144065
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.1269G>A (p.Thr423=) rs145994616
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+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.153G>T (p.Gln51His) rs886045219
NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro)
NM_014874.3(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser)
NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs)
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
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.1950G>A (p.Leu650=) rs772030424
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.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.2145C>T (p.Ala715=) rs571011689
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.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.322G>A (p.Gly108Arg)
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.477_478TG[1] (p.Val160fs)
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.851T>A (p.Phe284Tyr)
NM_014874.3(MFN2):c.864G>C (p.Glu288Asp)
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
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.1567A>G (p.Ile523Val) rs374848403
NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) rs41274468
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser)
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met)
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=) rs779795369
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp)
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys)
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu)
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln)
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu) rs147859999
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser)
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His)
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His)
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=)
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) rs1305793582
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln)
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val)
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) rs114415780
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser)
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val) rs1561013892
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met) rs759524701
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu) rs1554002777
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val)
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile)
NM_015271.5(TRIM2):c.210C>T (p.Cys70=)
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser)
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=)
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) rs745985238
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val)
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val)
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn)
NM_015271.5(TRIM2):c.497G>A (p.Arg166Gln) rs146252965
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala) rs1553992552
NM_015271.5(TRIM2):c.520G>A (p.Ala174Thr)
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe)
NM_015271.5(TRIM2):c.550G>A (p.Val184Met)
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg)
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) rs759938444
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn)
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr) rs1560963959
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) rs138228404
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn)
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu)
NM_015560.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_015560.2(OPA1):c.344C>T (p.Ala115Val) rs200983556
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_015915.4(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_015915.4(ATL1):c.976del (p.Val326fs)
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1343_*1344del rs886048765
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*1888del rs775823662
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*2357T>C rs886048762
NM_016156.5(MTMR2):c.*347_*348delCT rs762396029
NM_016156.5(MTMR2):c.*53G>A rs587779387
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
NM_016156.5(MTMR2):c.1101G>C (p.Lys367Asn)
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser)
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr)
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly)
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln)
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro)
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met)
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg)
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr)
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val) rs886048771
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444
NM_016156.5(MTMR2):c.1534del (p.Leu512fs)
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.5(MTMR2):c.1593+1G>A
NM_016156.5(MTMR2):c.1594-9T>G
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) rs781368440
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter)
NM_016156.5(MTMR2):c.1770+4T>C rs1565342479
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) rs778532655
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp)
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu)
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.1878_1879AG[6] (p.Ala629fs) rs751292488
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657
NM_016156.5(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly)
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met)
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile)
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu)
NM_016156.5(MTMR2):c.324del (p.Asn109fs)
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys)
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr)
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.358-2A>T
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe)
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.5(MTMR2):c.570+11T>C rs182582445
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys)
NM_016156.5(MTMR2):c.655-8A>G rs768562214
NM_016156.5(MTMR2):c.753_755TGA[1] (p.Asp252del) rs878855016
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys)
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg)
NM_016156.5(MTMR2):c.841_844del (p.Ile281fs)
NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp)
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr)
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) rs756509201
NM_018972.2(GDAP1):c.347T>C rs281865060
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.100dup (p.Ser34fs)
NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys)
NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg)
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)
NM_018972.4(GDAP1):c.118-3C>G
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs)
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)
NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu)
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
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.338A>G (p.Lys113Arg) rs1290008555
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.359G>A (p.Arg120Gln)
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu)
NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys)
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.385G>C (p.Asp129His)
NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys)
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe)
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
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.523G>C (p.Ala175Pro)
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys)
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile)
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
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.671A>C (p.Gln224Pro)
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.680A>G (p.Asn227Ser)
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser)
NM_018972.4(GDAP1):c.740C>T (p.Ala247Val)
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
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.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
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.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys)
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
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.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys)
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala)
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) rs1323153568
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe)
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
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_020631.5(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619
NM_020631.5(PLEKHG5):c.1081-3C>T rs772519809
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1112A>C (p.Glu371Ala)
NM_020631.5(PLEKHG5):c.112_114GAG[8] (p.Glu42_Glu43dup) rs760139855
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met)
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln)
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe)
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr)
NM_020631.5(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030
NM_020631.5(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118
NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys)
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys)
NM_020631.5(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.5(PLEKHG5):c.1414T>G (p.Cys472Gly)
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg)
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1510G>A (p.Glu504Lys)
NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745
NM_020631.5(PLEKHG5):c.1519G>A (p.Ala507Thr)
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933
NM_020631.5(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.5(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227
NM_020631.5(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
NM_020631.5(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu)
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.5(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331
NM_020631.5(PLEKHG5):c.2042A>G (p.Asn681Ser)
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala)
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2156_2157insAGA (p.Glu723dup) rs1553173388
NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532
NM_020631.5(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436
NM_020631.5(PLEKHG5):c.2215C>T (p.Arg739Trp)
NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.5(PLEKHG5):c.2244G>C (p.Gln748His)
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val)
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu)
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=)
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys)
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His)
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr)
NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.5(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606
NM_020631.5(PLEKHG5):c.2524C>T (p.Arg842Trp)
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193
NM_020631.5(PLEKHG5):c.2575C>T (p.Arg859Cys)
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys)
NM_020631.5(PLEKHG5):c.2664G>T (p.Gly888=)
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala)
NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016
NM_020631.5(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556
NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
NM_020631.5(PLEKHG5):c.2789G>T (p.Arg930Leu)
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser)
NM_020631.5(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651
NM_020631.5(PLEKHG5):c.2864A>G (p.Lys955Arg)
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.286_288AAG[2] (p.Lys98del) rs781153386
NM_020631.5(PLEKHG5):c.2886G>A (p.Ser962=)
NM_020631.5(PLEKHG5):c.2932G>C (p.Ala978Pro)
NM_020631.5(PLEKHG5):c.2933C>T (p.Ala978Val)
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys)
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met)
NM_020631.5(PLEKHG5):c.3011+6T>C
NM_020631.5(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu)
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser)
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg)
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His)
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys)
NM_020631.5(PLEKHG5):c.495G>C (p.Lys165Asn)
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His)
NM_020631.5(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624
NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.5(PLEKHG5):c.586A>G (p.Ile196Val)
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln)
NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735
NM_020631.5(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633
NM_020631.5(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578
NM_020631.5(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203
NM_020631.5(PLEKHG5):c.745C>T (p.Arg249Cys)
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro)
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe)
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro)
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr)
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser)
NM_020631.5(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302
NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu)
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103
NM_020631.5(PLEKHG5):c.89G>A (p.Arg30His)
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887
NM_020631.5(PLEKHG5):c.931A>C (p.Asn311His) rs146020517
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312
NM_020631.5(PLEKHG5):c.995G>A (p.Arg332Gln)
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln)
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1080_*1111del
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1871_*1948del
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*3126_*3146del
NM_020956.2(PRX):c.*3304del
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3977_*3978delinsA
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*4743A>G rs886054435
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.-114T>G rs367716653
NM_020956.2(PRX):c.-143G>A rs559995627
NM_020956.2(PRX):c.-160C>T rs763423646
NM_020956.2(PRX):c.-198-14C>T rs886054442
NM_020956.2(PRX):c.-199+7G>C rs541213273
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.-236G>A rs552436076
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.13A>G (p.Ser5Gly)
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.176T>C (p.Leu59Pro)
NM_020956.2(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_020956.2(PRX):c.237C>T (p.Asp79=) rs376174896
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg)
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.296C>T (p.Thr99Ile)
NM_020956.2(PRX):c.335T>C (p.Val112Ala)
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_020956.2(PRX):c.62T>C (p.Val21Ala) rs1167676481
NM_020956.2(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_020956.2(PRX):c.80C>A (p.Thr27Asn) rs1291881750
NM_021625.4(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.4(TRPV4):c.1039G>T (p.Asp347Tyr)
NM_021625.4(TRPV4):c.1076_1093del (p.Asp359_Ala364del)
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.114T>A (p.Asn38Lys) rs878853090
NM_021625.4(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.4(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253
NM_021625.4(TRPV4):c.1277C>T (p.Thr426Met)
NM_021625.4(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155
NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1392C>T (p.Arg464=)
NM_021625.4(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.4(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr)
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr)
NM_021625.4(TRPV4):c.1491+5G>A
NM_021625.4(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811
NM_021625.4(TRPV4):c.1505A>T (p.Tyr502Phe)
NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met)
NM_021625.4(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138
NM_021625.4(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829
NM_021625.4(TRPV4):c.153G>A (p.Pro51=) rs577306678
NM_021625.4(TRPV4):c.1543G>T (p.Val515Phe)
NM_021625.4(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=)
NM_021625.4(TRPV4):c.159T>A (p.Asp53Glu) rs765021989
NM_021625.4(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.4(TRPV4):c.1658+5G>A rs756714651
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.1706C>G (p.Ala569Gly)
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met)
NM_021625.4(TRPV4):c.1825-8G>A rs1565864062
NM_021625.4(TRPV4):c.183C>T (p.Gly61=)
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.4(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys)
NM_021625.4(TRPV4):c.1989C>G (p.Ser663Arg)
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys)
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2077G>A (p.Val693Met)
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile)
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633
NM_021625.4(TRPV4):c.2211G>C (p.Trp737Cys)
NM_021625.4(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.4(TRPV4):c.2290G>T (p.Val764Leu)
NM_021625.4(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168
NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu)
NM_021625.4(TRPV4):c.2440G>T (p.Val814Leu) rs202075458
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His)
NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875
NM_021625.4(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.4(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.4(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.4(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.4(TRPV4):c.2499C>A (p.Asn833Lys)
NM_021625.4(TRPV4):c.2521G>A (p.Val841Met)
NM_021625.4(TRPV4):c.2560G>C (p.Asp854His)
NM_021625.4(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.4(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.4(TRPV4):c.25C>T (p.Arg9Cys) rs758741868
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.26G>A (p.Arg9His) rs776163103
NM_021625.4(TRPV4):c.281C>T (p.Ser94Leu) rs201927283
NM_021625.4(TRPV4):c.331G>A (p.Gly111Ser) rs768721947
NM_021625.4(TRPV4):c.345C>G (p.His115Gln)
NM_021625.4(TRPV4):c.34C>T (p.Pro12Ser)
NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.472G>A (p.Val158Met) rs746905653
NM_021625.4(TRPV4):c.479G>A (p.Arg160Gln) rs139300843
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly)
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.556C>T (p.Arg186Ter)
NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) rs775317084
NM_021625.4(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.4(TRPV4):c.616C>T (p.Arg206Cys) rs200497189
NM_021625.4(TRPV4):c.646A>G (p.Ile216Val) rs1318320106
NM_021625.4(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.655C>T (p.Arg219Cys) rs754023659
NM_021625.4(TRPV4):c.656G>A (p.Arg219His) rs767331924
NM_021625.4(TRPV4):c.661G>A (p.Gly221Ser)
NM_021625.4(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu)
NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser)
NM_021625.4(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.4(TRPV4):c.709C>T (p.Arg237Ter) rs746368269
NM_021625.4(TRPV4):c.711A>G (p.Arg237=) rs927188562
NM_021625.4(TRPV4):c.712+5G>A rs372251308
NM_021625.4(TRPV4):c.737T>C (p.Ile246Thr)
NM_021625.4(TRPV4):c.746G>A (p.Arg249His)
NM_021625.4(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.4(TRPV4):c.820C>T (p.Gln274Ter)
NM_021625.4(TRPV4):c.827A>C (p.Lys276Thr)
NM_021625.4(TRPV4):c.834G>T (p.Glu278Asp)
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.877G>A (p.Ala293Thr)
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr)
NM_021625.4(TRPV4):c.915G>A (p.Thr305=) rs1565870990
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)
NM_021625.4(TRPV4):c.940A>G (p.Met314Val) rs151101009
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) rs377518118
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021629.4(GNB4):c.107A>T (p.Asn36Ile)
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) rs1163990709
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.429A>G (p.Thr143=)
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)
NM_021629.4(GNB4):c.574T>G (p.Leu192Val)
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr)
NM_021629.4(GNB4):c.598G>A (p.Val200Ile)
NM_021629.4(GNB4):c.700-3T>C
NM_021629.4(GNB4):c.714A>G (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu)
NM_021629.4(GNB4):c.783_785ATT[1] (p.Leu263del) rs771274313
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) rs752762550
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.4(GNB4):c.853T>G (p.Leu285Val) rs554623238
NM_021629.4(GNB4):c.86C>T (p.Thr29Met)
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn) rs1167931862
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala)
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys)
NM_021629.4(GNB4):c.911G>A (p.Arg304His)
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro) rs1168008697
NM_021629.4(GNB4):c.939_940del (p.Asn313fs) rs1560208074
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.1067C>T (p.Ala356Val)
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala)
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser)
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
NM_022489.4(INF2):c.1336dup (p.Leu446fs)
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp)
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala)
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.4(INF2):c.1587dup (p.Val530fs)
NM_022489.4(INF2):c.1593G>A (p.Ala531=)
NM_022489.4(INF2):c.1625T>C (p.Val542Ala)
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
NM_022489.4(INF2):c.170T>G (p.Leu57Arg)
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.4(INF2):c.1771G>C (p.Asp591His) rs369421697
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
NM_022489.4(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.4(INF2):c.1888-8T>G
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)
NM_022489.4(INF2):c.1950-3C>A
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys) rs368576387
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp)
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp) rs1378876029
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr)
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
NM_022489.4(INF2):c.203T>C (p.Phe68Ser)
NM_022489.4(INF2):c.2052+3A>G rs1382855956
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly)
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020
NM_022489.4(INF2):c.2188G>A (p.Val730Met) rs373199310
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.221T>G (p.Leu74Arg) rs1566777566
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg)
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys) rs569586169
NM_022489.4(INF2):c.2255G>A (p.Arg752His)
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
NM_022489.4(INF2):c.230T>G (p.Leu77Arg)
NM_022489.4(INF2):c.2418+3G>A
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.4(INF2):c.2510G>A (p.Arg837His)
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
NM_022489.4(INF2):c.2574G>A (p.Val858=)
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala)
NM_022489.4(INF2):c.2603G>A (p.Arg868His)
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) rs1314746427
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys) rs748529803
NM_022489.4(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp)
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) rs777498088
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.4(INF2):c.2726C>T (p.Thr909Met)
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs) rs1566785235
NM_022489.4(INF2):c.2801C>T (p.Ala934Val)
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys)
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly)
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile) rs377414980
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val) rs368372551
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
NM_022489.4(INF2):c.3083G>A (p.Arg1028His) rs1368908308
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp)
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys)
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043
NM_022489.4(INF2):c.314T>G (p.Val105Gly)
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
NM_022489.4(INF2):c.317G>C (p.Arg106Pro)
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala)
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.4(INF2):c.3224G>A (p.Arg1075His) rs370169829
NM_022489.4(INF2):c.323T>A (p.Val108Asp)
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn)
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln)
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile)
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro)
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) rs759925463
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
NM_022489.4(INF2):c.3476G>A (p.Arg1159His) rs200591522
NM_022489.4(INF2):c.3519_3524CGAGGA[1] (p.1171_1172DE[2])
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val)
NM_022489.4(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu)
NM_022489.4(INF2):c.3606G>A (p.Ser1202=) rs756383109
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp)
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300
NM_022489.4(INF2):c.3648G>A (p.Lys1216=)
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro)
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser) rs201091360
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs) rs763988639
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu)
NM_022489.4(INF2):c.3734_3735TG[3] (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.409G>A (p.Val137Met)
NM_022489.4(INF2):c.410T>G (p.Val137Gly) rs760611306
NM_022489.4(INF2):c.427G>A (p.Val143Met)
NM_022489.4(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)
NM_022489.4(INF2):c.507+6C>T
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.4(INF2):c.583G>A (p.Val195Ile)
NM_022489.4(INF2):c.598G>A (p.Val200Met)
NM_022489.4(INF2):c.610G>A (p.Val204Ile)
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
NM_022489.4(INF2):c.634C>T (p.Arg212Cys)
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
NM_022489.4(INF2):c.792C>T (p.Gly264=)
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
NM_022489.4(INF2):c.850T>C (p.Cys284Arg)
NM_022489.4(INF2):c.916C>T (p.Arg306Cys)
NM_022489.4(INF2):c.949A>G (p.Ser317Gly)
NM_022489.4(INF2):c.967G>A (p.Val323Met) rs761806103
NM_024577.3(SH3TC2):c.*10006A>T rs201998002
NM_024577.3(SH3TC2):c.*10010A>T rs886060145
NM_024577.3(SH3TC2):c.*10018A>T rs866934630
NM_024577.3(SH3TC2):c.*10022A>T rs56245745
NM_024577.3(SH3TC2):c.*10051_*10054ACCA[13] rs57301725
NM_024577.3(SH3TC2):c.*10051_*10054ACCA[14] rs57301725
NM_024577.3(SH3TC2):c.*10051_*10054ACCA[16] rs57301725
NM_024577.3(SH3TC2):c.*10052C>T rs113802539
NM_024577.3(SH3TC2):c.*10060C>A rs886060143
NM_024577.3(SH3TC2):c.*1006C>T rs886060185
NM_024577.3(SH3TC2):c.*10079A>G rs886060142
NM_024577.3(SH3TC2):c.*10083A>G rs886060141
NM_024577.3(SH3TC2):c.*10099A>T