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