ClinVar Miner

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

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5657
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HGVS dbSNP
NC_000001.10:g.(?_33241563)_(46663513_?)dup
NC_000001.11:g.(?_32775971)_(32797853_?)dup
NC_000001.11:g.(?_32810581)_(32811067_?)del
NC_000001.11:g.(?_32810591)_(32811057_?)del
NC_000001.11:g.11980166G>A
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000003.12:g.(?_128795358)_(128813432_?)dup
NC_000003.12:g.(?_179401203)_(179426210_?)dup
NC_000005.10:g.149063099G>A
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000006.12:g.(?_109825078)_(109825275_?)del
NC_000006.12:g.109691284C>A
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000007.14:g.30594727A>T
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_000008.11:g.(?_133236171)_(133298304_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NC_000008.11:g.133297281T>G
NC_000008.11:g.24956763G>C
NC_000008.11:g.24956773G>C
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NC_000011.10:g.(?_10028442)_(10193997_?)del
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.10:g.(?_9807990)_(9858406_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000012.12:g.(?_32633539)_(32640543_?)dup
NC_000012.12:g.109833410C>A
NC_000012.12:g.119178791C>G
NC_000012.12:g.119178894A>T
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_101925141)_(101964947_?)del
NC_000014.9:g.(?_102026564)_(102050573_?)dup
NC_000014.9:g.(?_104701356)_(104703963_?)del
NC_000014.9:g.101964570C>T
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000019.10:g.(?_10718233)_(10759821_?)dup
NC_000019.10:g.(?_10718233)_(10786716_?)dup
NC_000019.10:g.(?_10819960)_(10823919_?)dup
NC_000019.10:g.(?_10819970)_(10823909_?)dup
NC_000019.10:g.(?_10819970)_(10831057_?)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)_(24557301_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)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.*22C>T
NM_000166.6(GJB1):c.*277A>G
NM_000166.6(GJB1):c.*402G>A
NM_000166.6(GJB1):c.*443G>A
NM_000166.6(GJB1):c.*50G>C
NM_000166.6(GJB1):c.-102G>A
NM_000166.6(GJB1):c.-128G>A rs1057515983
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.463C>A (p.Leu155Met) rs1057515984
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) rs771022595
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) 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)
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.1430G>C (p.Ser477Thr)
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.2042C>T (p.Ala681Val)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000304.3(PMP22):c.-223C>T rs549380262
NM_000304.4(PMP22):c.*1049C>G rs750733887
NM_000304.4(PMP22):c.*174G>A
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*544C>T
NM_000304.4(PMP22):c.*596G>T
NM_000304.4(PMP22):c.*63A>C
NM_000304.4(PMP22):c.*818T>C
NM_000304.4(PMP22):c.*83del
NM_000304.4(PMP22):c.*894C>T
NM_000304.4(PMP22):c.*907C>A
NM_000304.4(PMP22):c.*911C>T
NM_000304.4(PMP22):c.*961C>G
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>A
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.266C>A (p.Thr89Asn)
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.317C>A (p.Ala106Asp)
NM_000304.4(PMP22):c.318del (p.Gly107fs)
NM_000304.4(PMP22):c.319+16T>G
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) rs759808649
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
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.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
NM_000304.4(PMP22):c.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.476G>C (p.Arg159Pro) rs773478255
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.74T>G (p.Val25Gly)
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.84G>T (p.Trp28Cys)
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
NM_000399.5(EGR2):c.*145T>A rs886047091
NM_000399.5(EGR2):c.*150A>G
NM_000399.5(EGR2):c.*230G>T
NM_000399.5(EGR2):c.*456G>A rs886047090
NM_000399.5(EGR2):c.*618T>C
NM_000399.5(EGR2):c.*646C>T rs555024997
NM_000399.5(EGR2):c.*655G>A rs886047089
NM_000399.5(EGR2):c.*79C>A
NM_000399.5(EGR2):c.*919G>C rs886047087
NM_000399.5(EGR2):c.-299G>A
NM_000399.5(EGR2):c.-64A>C
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.1198_1199TG[1] (p.Cys400_Asp401delinsTer)
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.1360T>G (p.Cys454Gly) rs886047092
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093
NM_000399.5(EGR2):c.941A>C (p.His314Pro)
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*102C>T
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*341A>G
NM_000530.8(MPZ):c.*369C>T
NM_000530.8(MPZ):c.*435T>G
NM_000530.8(MPZ):c.*522C>A
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*752G>A
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*903G>A
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.184A>G (p.Ile62Val)
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>A (p.Arg67His) rs201720099
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) rs1017715903
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.444A>T (p.Glu148Asp)
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.550C>G (p.Leu184Val)
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
NM_000530.8(MPZ):c.551del (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.*106T>C rs886054144
NM_001005360.2(DNM2):c.*166G>A rs886054145
NM_001005360.2(DNM2):c.*391C>T rs886054147
NM_001005360.2(DNM2):c.*550G>A rs886054148
NM_001005360.2(DNM2):c.*711T>C rs886054149
NM_001005360.2(DNM2):c.*79G>A rs550692861
NM_001005360.2(DNM2):c.*82C>T rs569502521
NM_001005360.2(DNM2):c.*88C>G rs886054143
NM_001005360.2(DNM2):c.-122G>A rs886054139
NM_001005360.2(DNM2):c.-153G>T rs886054138
NM_001005360.2(DNM2):c.-19G>T rs753599004
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.1354T>G (p.Leu452Val) rs770599060
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) rs766613900
NM_001005360.2(DNM2):c.1423-9C>G rs371006369
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
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.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.162-9C>A rs200736669
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 rs942932745
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
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.1782-7C>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.1903G>A (p.Glu635Lys) rs761198315
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.2105C>T (p.Ser702Leu) rs745382488
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) rs754691182
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.2418G>A (p.Ala806=) rs200968756
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.2560G>T (p.Ala854Ser) rs886054141
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val) rs776073354
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) rs200408053
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met) rs753176358
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) rs748887276
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
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) rs754507545
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys) rs138128705
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.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_001005361.3(DNM2):c.*185A>C
NM_001005361.3(DNM2):c.*214C>T
NM_001005361.3(DNM2):c.*373G>A
NM_001005361.3(DNM2):c.*379C>T
NM_001005361.3(DNM2):c.*716C>T
NM_001005361.3(DNM2):c.*751T>A
NM_001005361.3(DNM2):c.-116C>T
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
NM_001005361.3(DNM2):c.1196+626G>A
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
NM_001005361.3(DNM2):c.1782-6C>T
NM_001005361.3(DNM2):c.1782-7C>G
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
NM_001005361.3(DNM2):c.2291+5G>A
NM_001005361.3(DNM2):c.2292-7C>G
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
NM_001005361.3(DNM2):c.2543+5G>C
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
NM_001005361.3(DNM2):c.849+7C>T
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
NM_001005373.3(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001007245.2(IFRD1):c.514A>G (p.Ile172Val)
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs)
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_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys)
NM_001113491.2(SEPTIN9):c.1476+2T>G
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val)
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg)
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu)
NM_001113491.2(SEPTIN9):c.19+4829C>A
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp)
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly)
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser)
NM_001113491.2(SEPTIN9):c.722-6324del
NM_001113491.2(SEPTIN9):c.722-6334T>C
NM_001113491.2(SEPTIN9):c.722-6589G>C
NM_001113491.2(SEPTIN9):c.722-6624T>C
NM_001113491.2(SEPTIN9):c.722-7T>C
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr)
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) rs587781247
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
NM_001127660.1(MFN2):c.*1797_*1799GTT[1] rs140537612
NM_001127660.1(MFN2):c.-214C>G
NM_001127660.1(MFN2):c.-237G>A
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del) rs766213721
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs)
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met)
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg)
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del)
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
NM_001136473.1(LITAF):c.*1007G>A rs535657236
NM_001136473.1(LITAF):c.*1074A>G rs886051649
NM_001136473.1(LITAF):c.*107C>T
NM_001136473.1(LITAF):c.*116G>A
NM_001136473.1(LITAF):c.*1179A>C
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*1295A>G rs886051648
NM_001136473.1(LITAF):c.*1342A>C
NM_001136473.1(LITAF):c.*1489A>C
NM_001136473.1(LITAF):c.*149C>A
NM_001136473.1(LITAF):c.*1511G>A
NM_001136473.1(LITAF):c.*1524C>A
NM_001136473.1(LITAF):c.*1547A>G
NM_001136473.1(LITAF):c.*1561T>G
NM_001136473.1(LITAF):c.*158G>A
NM_001136473.1(LITAF):c.*1682C>A rs886051647
NM_001136473.1(LITAF):c.*17-3C>T rs774213197
NM_001136473.1(LITAF):c.*17-48C>A
NM_001136473.1(LITAF):c.*173C>T
NM_001136473.1(LITAF):c.*2004A>G
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*25C>T rs201512884
NM_001136473.1(LITAF):c.*318G>A rs886051652
NM_001136473.1(LITAF):c.*359C>A
NM_001136473.1(LITAF):c.*419A>T rs886051651
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 rs144232569
NM_001136473.1(LITAF):c.*51G>A
NM_001136473.1(LITAF):c.*57G>A rs754821950
NM_001136473.1(LITAF):c.*57G>C
NM_001136473.1(LITAF):c.*625A>G
NM_001136473.1(LITAF):c.*63C>T
NM_001136473.1(LITAF):c.*688A>C
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>T
NM_001136473.1(LITAF):c.*723G>A rs367546754
NM_001136473.1(LITAF):c.*848A>G rs886051650
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.-6+513G>C
NM_001136473.1(LITAF):c.-6+539G>A rs545189325
NM_001136473.1(LITAF):c.-6+618C>G
NM_001136473.1(LITAF):c.-6+657C>A rs374282727
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr) rs759905004
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.135G>A (p.Thr45=) rs758166691
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136473.1(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) rs746577483
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) rs11544251
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.368G>A (p.Cys123Tyr)
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly)
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.86T>G (p.Val29Gly)
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.474C>T (p.Arg158=)
NM_001142386.3(PDK3):c.486C>T (p.Arg162=)
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=)
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu)
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys)
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.1213A>G (p.Met405Val)
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)
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.1229T>G (p.Val410Gly)
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=) rs777612473
NM_001303256.3(MORC2):c.1369+8_1369+9del
NM_001303256.3(MORC2):c.1370-3C>T rs770913783
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp) rs897870181
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.1541C>G (p.Ser514Cys)
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
NM_001303256.3(MORC2):c.158-4A>T
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
NM_001303256.3(MORC2):c.1605-3C>T rs111618347
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser) rs756912389
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr) rs770774096
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys) rs548292999
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=) rs778753246
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys) rs200774292
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) rs748092969
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
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) rs763542037
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly) rs778099643
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln) rs563612262
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val) rs560948457
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys) rs201032497
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.2176C>G (p.Pro726Ala)
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu) rs760522350
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
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.2267A>C (p.Lys756Thr)
NM_001303256.3(MORC2):c.227-5T>C
NM_001303256.3(MORC2):c.227-8C>G
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn) rs762809030
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+1G>A
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
NM_001303256.3(MORC2):c.2522+3A>G
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
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) rs1042426757
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.2880C>G (p.Asn960Lys)
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787
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.2974_2979del (p.Glu992_Lys993del)
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.458G>A (p.Arg153Gln)
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
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) rs893153652
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
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.743A>G (p.Tyr248Cys)
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
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.917C>T (p.Ala306Val)
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
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.1569_1571AGA[3] (p.Glu526del) rs1264651352
NM_001304480.1(FGD4):c.193A>T (p.Ile65Leu) rs886049253
NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) rs1565921326
NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs) rs751035912
NM_001304480.1(FGD4):c.301C>A (p.Pro101Thr) rs199744649
NM_001304481.1(FGD4):c.8del (p.Gly3fs) rs1357153004
NM_001316772.1(GARS1):c.-221C>T rs886062271
NM_001316772.1(GARS1):c.-226C>T
NM_001316772.1(GARS1):c.-231T>G
NM_001316772.1(GARS1):c.-242C>T rs886062270
NM_001316772.1(GARS1):c.-247C>A
NM_001316772.1(GARS1):c.-328T>G
NM_001316772.1(GARS1):c.-342G>C
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) rs145734191
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)
NM_001349253.2(SCN11A):c.4057-1G>A
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) rs1553630322
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001362931.2(GDAP1):c.694+3856A>G
NM_001362931.2(GDAP1):c.694+3989C>T
NM_001362931.2(GDAP1):c.694+4016T>C
NM_001362931.2(GDAP1):c.694+4037T>C rs886063119
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_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)
NM_001365951.3(KIF1B):c.2115+6205C>G
NM_001365951.3(KIF1B):c.2115+6385G>A
NM_001365951.3(KIF1B):c.2115+6425T>C
NM_001365951.3(KIF1B):c.2115+6548G>A
NM_001365951.3(KIF1B):c.2115+7103A>G
NM_001365951.3(KIF1B):c.2115+7159A>G
NM_001365951.3(KIF1B):c.2115+7161C>A
NM_001365951.3(KIF1B):c.2115+7308A>C
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)
NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser)
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr)
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile)
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs)
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro)
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn)
NM_001371279.1(REEP1):c.304-2A>G rs387907242
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) rs587781248
NM_001376.4(DYNC1H1):c.-137C>T rs886050367
NM_001376.5(DYNC1H1):c.*108G>A rs886050378
NM_001376.5(DYNC1H1):c.*194C>G
NM_001376.5(DYNC1H1):c.*194C>T rs566606862
NM_001376.5(DYNC1H1):c.*70T>C
NM_001376.5(DYNC1H1):c.-90C>T
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn) rs766521055
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.10575T>C (p.Arg3525=) rs763119040
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.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln) rs760957660
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
NM_001376.5(DYNC1H1):c.11055+6G>A
NM_001376.5(DYNC1H1):c.11056-10A>G
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser)
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro)
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro)
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met) rs867293260
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
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.12422C>T (p.Ala4141Val)
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile) rs202107738
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg) rs776972173
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly)
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly)
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
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.13152G>A (p.Ala4384=) rs536121075
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.13166A>G (p.His4389Arg)
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
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) rs749297332
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln) rs376608392
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.13474A>C (p.Ile4492Leu)
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.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13516-10C>A
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile)
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
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.13719C>T (p.Asn4573=) rs886050377
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys) rs765362140
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
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.13801_13802delinsGC (p.Lys4601Ala)
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.13863C>A (p.Thr4621=)
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
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.13912C>T (p.Arg4638Trp)
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.1461+5G>T
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=) rs747710142
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.1560T>C (p.Ile520=) rs761916499
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met) rs780247153
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
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) rs775473086
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln) rs758895614
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
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) rs1002689170
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
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.22G>A (p.Gly8Ser)
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
NM_001376.5(DYNC1H1):c.2719-15T>C
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.2922A>C (p.Pro974=)
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile)
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.3107C>T (p.Ser1036Leu)
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu) rs775900761
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
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.366T>C (p.Thr122=) rs527943422
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
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.3845T>C (p.Ile1282Thr)
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg)
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
NM_001376.5(DYNC1H1):c.3961-3C>T
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg) rs763711252
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) rs776226690
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
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.4627C>T (p.Arg1543Trp)
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys) rs925942859
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5049+15G>A
NM_001376.5(DYNC1H1):c.5050-3C>T
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182
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=) rs369232191
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
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.5282A>G (p.Asn1761Ser)
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.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
NM_001376.5(DYNC1H1):c.5433_5433+27dup
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His) rs768520247
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
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.6023T>G (p.Val2008Gly)
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
NM_001376.5(DYNC1H1):c.6222-4C>T
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
NM_001376.5(DYNC1H1):c.6405+4_6405+44del
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6539A>C (p.Glu2180Ala)
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile)
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu) rs377242217
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
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.7190G>A (p.Arg2397Gln) rs751820545
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro) rs912429154
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
NM_001376.5(DYNC1H1):c.7242+5G>A rs770870431
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
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.7431C>T (p.Pro2477=)
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
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.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7543G>A (p.Gly2515Ser)
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met)
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
NM_001376.5(DYNC1H1):c.7849-7T>G
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8177+12C>T
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
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.8257C>T (p.Arg2753Cys)
NM_001376.5(DYNC1H1):c.8343+5G>A
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val) rs774677904
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812
NM_001376.5(DYNC1H1):c.8930G>A (p.Arg2977Gln)
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val) rs1187943520
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser) rs769817685
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=) rs1566996726
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296
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.9210G>A (p.Pro3070=) rs201817995
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) rs1043956265
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg)
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile) rs747831868
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg) rs1053560376
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys) rs756550022
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>T
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro)
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr) rs903873576
NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp)
NM_001376.5(DYNC1H1):c.9883+3A>G
NM_001376.5(DYNC1H1):c.9944C>G (p.Ala3315Gly)
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.*116C>T
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.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
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.210G>A (p.Ala70=)
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
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.251G>A (p.Gly84Glu)
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.281G>A (p.Arg94His)
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>G (p.Asn102Ser)
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.365-13C>T
NM_001540.5(HSPB1):c.365-67C>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) rs766728475
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.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
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.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
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.609dup (p.Ala204fs)
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
NM_001605.2(AARS1):c.*169C>G rs554221793
NM_001605.2(AARS1):c.*324G>A rs141837805
NM_001605.2(AARS1):c.-108T>C rs779683414
NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) rs140135726
NM_001605.2(AARS1):c.1108A>G (p.Met370Val) rs199976742
NM_001605.2(AARS1):c.1120A>G (p.Ile374Val) rs142128800
NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234
NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp)
NM_001605.2(AARS1):c.1493-7T>C rs376087556
NM_001605.2(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.2(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.2(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser) rs371595630
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
NM_001605.2(AARS1):c.1846C>T (p.Arg616Cys) rs372221218
NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg) rs142233951
NM_001605.2(AARS1):c.2109G>C (p.Val703=) rs777499923
NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu) rs754391789
NM_001605.2(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) rs142850278
NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) rs150873930
NM_001605.2(AARS1):c.2222C>T (p.Thr741Met) rs148383122
NM_001605.2(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.2378G>C (p.Arg793Thr) rs886052253
NM_001605.2(AARS1):c.2401-11A>G rs377576408
NM_001605.2(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS1):c.2596G>A (p.Ala866Thr) rs374478964
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) rs746822330
NM_001605.2(AARS1):c.304G>C (p.Gly102Arg)
NM_001605.2(AARS1):c.333+3A>C rs747431164
NM_001605.2(AARS1):c.342A>C (p.Ala114=)
NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) rs370622071
NM_001605.2(AARS1):c.480-8T>G rs751472610
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) rs199997425
NM_001605.2(AARS1):c.518A>G (p.Asp173Gly) rs765398055
NM_001605.2(AARS1):c.618G>T (p.Gln206His)
NM_001605.2(AARS1):c.63C>T (p.Asn21=) rs773045737
NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) rs1374950172
NM_001605.2(AARS1):c.806C>G (p.Ala269Gly) rs769239545
NM_001605.2(AARS1):c.91A>G (p.Thr31Ala) rs886052256
NM_001605.2(AARS1):c.958C>T (p.Arg320Cys) rs138490305
NM_001605.2(AARS1):c.962+15C>T rs779150762
NM_001605.3(AARS1):c.*131G>A
NM_001605.3(AARS1):c.*32T>C
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
NM_001605.3(AARS1):c.1138G>T (p.Val380Leu)
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro)
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
NM_001605.3(AARS1):c.72G>A (p.Thr24=)
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys)
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala)
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly)
NM_002047.3(GARS):c.-197G>C rs886062269
NM_002047.3(GARS):c.-237A>C rs540431164
NM_002047.4(GARS1):c.*145C>A
NM_002047.4(GARS1):c.-36C>T rs531483802
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
NM_002047.4(GARS1):c.1194+3A>C
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu)
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala)
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
NM_002047.4(GARS1):c.1809+10_1809+12del
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr)
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.882-4A>G rs778219649
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.1018G>A (p.Glu340Lys) rs750580259
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
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) rs770912338
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362
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.1236-6G>A rs201538340
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) rs1021399630
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.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
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.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.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del)
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
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) rs143766075
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
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) rs1057518943
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) rs377743886
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210
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.2133C>G (p.Ser711Arg) rs879254320
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) rs754559345
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)
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.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.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.2753G>A (p.Arg918His) rs368584364
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) rs200897747
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
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) rs767244307
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880
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) rs771853806
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) rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797
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) rs892885630
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) rs747287368
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs)
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=)
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
NM_002180.3(IGHMBP2):c.1235+1076G>A
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.1586_1587GT[3] (p.Pro531fs)
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro)
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2773del (p.His925fs)
NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro)
NM_002180.3(IGHMBP2):c.2785-3C>G
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met)
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
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.2344C>T (p.Gln782Ter)
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) rs543320028
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.1069A>G (p.Thr357Ala)
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.2255C>T (p.Thr752Met)
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)
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.*369G>A rs879511403
NM_003680.3(YARS1):c.*399G>A rs890588915
NM_003680.3(YARS1):c.*539A>G rs550239801
NM_003680.3(YARS1):c.*599A>C rs542816112
NM_003680.3(YARS1):c.*724T>C rs950577466
NM_003680.3(YARS1):c.-110G>A rs748353138
NM_003680.3(YARS1):c.-157G>A
NM_003680.3(YARS1):c.-167T>A rs1057515514
NM_003680.3(YARS1):c.-260G>A
NM_003680.3(YARS1):c.-269C>T rs772899682
NM_003680.3(YARS1):c.-333C>T rs1057515442
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly) rs763921769
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) rs376054085
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) rs749411607
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.1227C>A (p.Phe409Leu)
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.1418A>G (p.Glu473Gly)
NM_003680.3(YARS1):c.1435G>A (p.Glu479Lys)
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr)
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr) rs778099655
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser) rs778099655
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.1570G>C (p.Gly524Arg)
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu)
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr) rs774466323
NM_003680.3(YARS1):c.177T>G (p.Ile59Met)
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr)
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn) rs776582429
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.294G>C (p.Glu98Asp)
NM_003680.3(YARS1):c.298G>A (p.Val100Met) rs766704849
NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
NM_003680.3(YARS1):c.391C>T (p.Leu131=) rs759430430
NM_003680.3(YARS1):c.40A>T (p.Ile14Phe)
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) rs1553127237
NM_003680.3(YARS1):c.424C>A (p.Gln142Lys)
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr) rs769290451
NM_003680.3(YARS1):c.466G>T (p.Val156Leu)
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr)
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg) rs1473184666
NM_003680.3(YARS1):c.511-14G>A rs1057515513
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp)
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr)
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg) rs750198437
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.685-11A>G rs751943571
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.819C>T (p.Ser273=)
NM_003680.3(YARS1):c.821-3T>C
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
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.*1029A>G rs776759455
NM_004637.5(RAB7A):c.*1142G>A rs747470481
NM_004637.5(RAB7A):c.*1161C>T rs886057952
NM_004637.5(RAB7A):c.*1301A>G rs182528613
NM_004637.5(RAB7A):c.*165A>T rs886057942
NM_004637.5(RAB7A):c.*181G>A rs3206306
NM_004637.5(RAB7A):c.*183A>G rs774054837
NM_004637.5(RAB7A):c.*473G>C rs886057945
NM_004637.5(RAB7A):c.*700C>T rs886057946
NM_004637.5(RAB7A):c.*702T>G rs886057947
NM_004637.5(RAB7A):c.*85A>G rs549333234
NM_004637.5(RAB7A):c.*922A>G rs886057949
NM_004637.5(RAB7A):c.*929A>T rs886057950
NM_004637.5(RAB7A):c.*997T>G rs3755593
NM_004637.5(RAB7A):c.-154G>A rs886057939
NM_004637.5(RAB7A):c.-18A>G rs886057941
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
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) rs147480945
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004637.6(RAB7A):c.*1079C>T
NM_004637.6(RAB7A):c.*1219C>T
NM_004637.6(RAB7A):c.*1343C>T
NM_004637.6(RAB7A):c.*1344G>A
NM_004637.6(RAB7A):c.*274G>A
NM_004637.6(RAB7A):c.*317A>G
NM_004637.6(RAB7A):c.*402T>A
NM_004637.6(RAB7A):c.*819C>A
NM_004637.6(RAB7A):c.*831A>G
NM_004637.6(RAB7A):c.*908A>C
NM_004637.6(RAB7A):c.*956G>A
NM_004637.6(RAB7A):c.*974A>G
NM_004637.6(RAB7A):c.*989C>G
NM_004637.6(RAB7A):c.-146G>C
NM_004637.6(RAB7A):c.-61G>A
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
NM_004637.6(RAB7A):c.181-3C>T
NM_004637.6(RAB7A):c.331del (p.Ser111fs)
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
NM_004637.6(RAB7A):c.54-15T>C
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) rs121909093
NM_004945.3(DNM2):c.1663_1665del (p.Lys555del)
NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del)
NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) rs121909088
NM_004945.3(DNM2):c.1697T>A (p.Leu566His) rs121909094
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del)
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del)
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
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) rs780028144
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.1535A>G (p.Asp512Gly)
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
NM_004990.4(MARS1):c.1754-1G>C
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659
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.2138G>A (p.Arg713Gln)
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141
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) rs758051760
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259
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.2678C>T (p.Ala893Val)
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
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.652A>G (p.Asn218Asp)
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
NM_005340.7(HINT1):c.117T>A (p.Leu39=)
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)
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=) rs778878755
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) rs755979803
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
NM_005340.7(HINT1):c.292G>A (p.Val98Met)
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.59G>A (p.Gly20Glu)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005548.2(KARS1):c.440_441dup (p.Arg148fs)
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
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.1133C>T (p.Pro378Leu)
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)
NM_006070.6(TFG):c.1154G>A (p.Arg385His)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)
NM_006070.6(TFG):c.237G>T (p.Gln79His)
NM_006070.6(TFG):c.268G>A (p.Val90Ile)
NM_006070.6(TFG):c.286C>T (p.Pro96Ser)
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) rs775608477
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)
NM_006070.6(TFG):c.458C>T (p.Ser153Phe)
NM_006070.6(TFG):c.464A>G (p.Lys155Arg)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg)
NM_006070.6(TFG):c.482T>C (p.Met161Thr)
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.484G>A (p.Ala162Thr)
NM_006070.6(TFG):c.544A>C (p.Met182Leu)
NM_006070.6(TFG):c.545T>C (p.Met182Thr)
NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
NM_006070.6(TFG):c.664G>A (p.Val222Ile)
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090
NM_006070.6(TFG):c.716T>C (p.Ile239Thr) rs146004809
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) rs751393611
NM_006070.6(TFG):c.898C>A (p.Pro300Thr)
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) rs763523148
NM_006096.3(NDRG1):c.*1195G>T rs561506934
NM_006096.3(NDRG1):c.*1296C>T rs886062711
NM_006096.3(NDRG1):c.*1340G>A rs12668
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.*2C>T rs200367524
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.-8G>A rs200465804
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.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.1101C>T (p.Ser367=) rs201959970
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.1155C>T (p.Ala385=) rs774605205
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) rs769720211
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser) rs780329667
NM_006096.3(NDRG1):c.205C>T (p.His69Tyr) rs373590447
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.307G>T (p.Ala103Ser) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
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.431A>G (p.Tyr144Cys) rs139220402
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro) rs781381539
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg)
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu) rs779194865
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.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.789G>A (p.Ser263=) rs61755062
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.944-13C>T rs753312340
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu) rs904186690
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.973C>T (p.Arg325Trp) rs141078746
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006096.4(NDRG1):c.*1179G>C
NM_006096.4(NDRG1):c.*1299C>T
NM_006096.4(NDRG1):c.*1300G>C
NM_006096.4(NDRG1):c.*1339C>T
NM_006096.4(NDRG1):c.*1361C>A
NM_006096.4(NDRG1):c.*1621C>T
NM_006096.4(NDRG1):c.*228G>A
NM_006096.4(NDRG1):c.*308C>T
NM_006096.4(NDRG1):c.*31T>G
NM_006096.4(NDRG1):c.*392G>A
NM_006096.4(NDRG1):c.*403G>A
NM_006096.4(NDRG1):c.*48C>A
NM_006096.4(NDRG1):c.*525G>A
NM_006096.4(NDRG1):c.*791C>T
NM_006096.4(NDRG1):c.*854G>A
NM_006096.4(NDRG1):c.*91G>A
NM_006096.4(NDRG1):c.-99A>G
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
NM_006158.4(NEFL):c.*1342A>G rs886062830
NM_006158.4(NEFL):c.*1349T>G rs886062828
NM_006158.4(NEFL):c.*1482C>T rs886062827
NM_006158.4(NEFL):c.*171C>G rs886062834
NM_006158.4(NEFL):c.*1744T>C rs886062825
NM_006158.4(NEFL):c.*51A>G rs538082598
NM_006158.4(NEFL):c.*577T>C rs886062832
NM_006158.4(NEFL):c.*856T>C rs886062831
NM_006158.4(NEFL):c.-68T>A rs886062836
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 rs779620367
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.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.141G>A (p.Val47=) rs886062835
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) rs886043551
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) rs587777888
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn)
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys) rs121913663
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln)
NM_006158.4(NEFL):c.45G>A (p.Lys15=) rs62636518
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly) rs752771636
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) rs779821785
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) rs753319598
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) rs772092001
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) rs373569840
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.794A>G (p.Tyr265Cys) rs587777880
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_006158.5(NEFL):c.*1101G>A
NM_006158.5(NEFL):c.*1153T>G
NM_006158.5(NEFL):c.*1383C>T
NM_006158.5(NEFL):c.*1464A>G
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
NM_006158.5(NEFL):c.1169+3G>A
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter)
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
NM_006158.5(NEFL):c.1413del (p.Ser472fs)
NM_006158.5(NEFL):c.1414del (p.Ser472fs)
NM_006158.5(NEFL):c.1489+6A>T
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe)
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
NM_006329.3(FBLN5):c.*121C>T
NM_006329.3(FBLN5):c.*363C>T rs536827304
NM_006329.3(FBLN5):c.*419G>C
NM_006329.3(FBLN5):c.*426C>T
NM_006329.3(FBLN5):c.*458T>C rs886050887
NM_006329.3(FBLN5):c.*648G>A rs182435130
NM_006329.3(FBLN5):c.*653G>A rs886050886
NM_006329.3(FBLN5):c.*775A>C rs886050885
NM_006329.3(FBLN5):c.*77T>A
NM_006329.3(FBLN5):c.*98G>A rs568348723
NM_006329.3(FBLN5):c.-139C>T rs554315938
NM_006329.3(FBLN5):c.-382C>G rs886050890
NM_006329.3(FBLN5):c.-389C>A rs886050891
NM_006329.3(FBLN5):c.-413C>T rs886050892
NM_006329.3(FBLN5):c.-428G>C rs886050893
NM_006329.3(FBLN5):c.-77C>G
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.1063G>C (p.Val355Leu)
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987
NM_006329.3(FBLN5):c.1191G>A (p.Thr397=) rs148660796
NM_006329.3(FBLN5):c.124+8C>A
NM_006329.3(FBLN5):c.1241G>A (p.Arg414Gln)
NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.273G>A (p.Pro91=)
NM_006329.3(FBLN5):c.336A>G (p.Ile112Met)
NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.3(FBLN5):c.573A>G (p.Thr191=)
NM_006329.3(FBLN5):c.676G>A (p.Gly226Ser) rs747288805
NM_006329.3(FBLN5):c.726C>G (p.Gly242=)
NM_006329.3(FBLN5):c.862+12C>T rs202088447
NM_006329.3(FBLN5):c.901C>A (p.Leu301Met)
NM_006329.3(FBLN5):c.989+9C>T rs557362799
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.398G>A (p.Cys133Tyr) rs119482081
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_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)
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_007289.4(MME):c.2072C>T (p.Ala691Val)
NM_014365.2(HSPB8):c.*504T>C rs886049027
NM_014365.2(HSPB8):c.*648A>G rs770364674
NM_014365.2(HSPB8):c.*67T>G rs886049026
NM_014365.2(HSPB8):c.*803T>C rs886049029
NM_014365.2(HSPB8):c.-172G>C rs886049025
NM_014365.2(HSPB8):c.-201G>T rs764259720
NM_014365.2(HSPB8):c.-314T>C rs754447057
NM_014365.2(HSPB8):c.-480C>G rs886049024
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg) rs146900850
NM_014365.2(HSPB8):c.164G>A (p.Arg55His) rs752911264
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) rs104894351
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr)
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.432-10T>A rs368810689
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) rs1000728639
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys) rs760688825
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg) rs551013013
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln) rs747381453
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014365.3(HSPB8):c.*123G>A
NM_014365.3(HSPB8):c.*330A>T
NM_014365.3(HSPB8):c.*788C>T
NM_014365.3(HSPB8):c.*860T>C
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
NM_014365.3(HSPB8):c.174C>A (p.Ser58=)
NM_014365.3(HSPB8):c.25T>C (p.Ser9Pro)
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)
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.1812C>A (p.Tyr604Ter)
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.401C>T (p.Ala134Val)
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) rs192324110
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) rs755232396
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) rs535554973
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.1405G>A (p.Gly469Arg) rs201742496
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.1584-8T>A rs199522051
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) rs772937400
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.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln) rs192447225
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) rs540674198
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.2097-10C>G rs142482745
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.2223G>T (p.Thr741=) rs181012139
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.2639T>A (p.Ile880Asn) rs746915624
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.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys) rs145466148
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.446+9G>A rs190287033
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) rs543462663
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) rs138376077
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_014845.6(FIG4):c.1073C>G (p.Ala358Gly)
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
NM_014845.6(FIG4):c.1181_1183TTG[1] (p.Val395del)
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
NM_014845.6(FIG4):c.1889+9C>T
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
NM_014845.6(FIG4):c.2096+3A>G
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
NM_014845.6(FIG4):c.2376+2T>C
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
NM_014845.6(FIG4):c.2546+5G>C
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
NM_014845.6(FIG4):c.2661dup (p.Gln888fs)
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
NM_014845.6(FIG4):c.447-3dup
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly)
NM_014845.6(FIG4):c.645C>T (p.Ser215=)
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
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