ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6810
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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 rs1602348508
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>A (p.Met34Lys) rs1060500998
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.103G>A (p.Val35Met) rs1602348735
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro) rs1602348737
NM_000166.6(GJB1):c.109G>A (p.Val37Met) rs1057518946
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.110del (p.Val37fs) rs1602348754
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.113T>C (p.Val38Ala) rs863224612
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs) rs1602348767
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro) rs1602348769
NM_000166.6(GJB1):c.115del (p.Ala39fs) rs1602348763
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly) rs786204095
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.116del (p.Ala39fs) rs1602348779
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) rs1602348782
NM_000166.6(GJB1):c.119C>T (p.Ala40Val) rs1602348786
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys) rs1602348548
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs) rs1602348794
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys) rs1602348796
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys) rs1602348801
NM_000166.6(GJB1):c.127G>A (p.Val43Met) rs1602348804
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu) rs1555937063
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) rs879253935
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly) rs1602348820
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser) rs1602348552
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly) rs1602348828
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup) rs1602348833
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr) rs1602348838
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.155del (p.Ile52fs) rs1602348856
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser) rs1602348863
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr) rs1602348864
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser) rs1602348864
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg) rs104894824
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe) rs1602348872
NM_000166.6(GJB1):c.171G>C (p.Gln57His) rs1602348875
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys) rs1555937077
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe) rs1555937082
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg) rs1602348895
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.187G>T (p.Val63Phe) rs116840818
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr) rs1602348897
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser) rs1602348897
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe) rs1602348897
NM_000166.6(GJB1):c.193T>C (p.Tyr65His) rs1602348902
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) rs1602348907
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn) rs1602348911
NM_000166.6(GJB1):c.196_198del (p.Asp66del) rs1602348913
NM_000166.6(GJB1):c.1A>T (p.Met1Leu) rs1602348517
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) rs1602348917
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) rs878853697
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe) rs1602348930
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys) rs1602348554
NM_000166.6(GJB1):c.210dup (p.Ile71fs) rs1602348918
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser) rs1602348932
NM_000166.6(GJB1):c.217del (p.His73fs) rs1602348937
NM_000166.6(GJB1):c.220G>A (p.Val74Met) rs772377652
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro) rs863224972
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg) rs1602348960
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro) rs1602348557
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser) rs199570177
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe) rs1602348971
NM_000166.6(GJB1):c.234C>T (p.Ser78=) rs1602348974
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) rs1602348981
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) rs1602348981
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile) rs1602348559
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) rs876661143
NM_000166.6(GJB1):c.244A>G (p.Ile82Val) rs1602348995
NM_000166.6(GJB1):c.246C>G (p.Ile82Met) rs1602348999
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro) rs1602349004
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg) rs1602349004
NM_000166.6(GJB1):c.248_257del (p.Leu83fs) rs1602349000
NM_000166.6(GJB1):c.250G>A (p.Val84Ile) rs1602349007
NM_000166.6(GJB1):c.251T>G (p.Val84Gly) rs1602349008
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe) rs104894823
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala) rs1602349014
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser) rs1602349014
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn) rs1602349017
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) rs1602349017
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser) rs587777877
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) rs1602349021
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.268C>G (p.Leu90Val) rs1299325261
NM_000166.6(GJB1):c.269T>A (p.Leu90His) rs1602349045
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp) rs1569214971
NM_000166.6(GJB1):c.271G>C (p.Val91Leu) rs756928158
NM_000166.6(GJB1):c.272T>G (p.Val91Gly) rs1602349050
NM_000166.6(GJB1):c.273_274del (p.Ala92fs) rs1602349061
NM_000166.6(GJB1):c.275_276del (p.Ala92fs) rs1602349065
NM_000166.6(GJB1):c.277A>G (p.Met93Val) rs1602349066
NM_000166.6(GJB1):c.277_278del (p.Met93fs) rs1602349068
NM_000166.6(GJB1):c.278T>A (p.Met93Lys) rs1602349077
NM_000166.6(GJB1):c.278T>G (p.Met93Arg) rs1602349077
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe) rs1602348563
NM_000166.6(GJB1):c.280C>G (p.His94Asp) rs1602349087
NM_000166.6(GJB1):c.280C>T (p.His94Tyr) rs1602349087
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.282C>G (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) rs1602349112
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) rs1602349121
NM_000166.6(GJB1):c.298C>T (p.His100Tyr) rs1602349131
NM_000166.6(GJB1):c.2T>G (p.Met1Arg) rs1602348519
NM_000166.6(GJB1):c.300C>G (p.His100Gln) rs1602349137
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.308dup (p.Lys104fs) rs1602349159
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr) rs1602349166
NM_000166.6(GJB1):c.313del (p.Met105fs) rs1602349163
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly) rs1602348569
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro) rs1602349183
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) rs1555937145
NM_000166.6(GJB1):c.332_349del (p.His111_His116del) rs1602349197
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs) rs1602349208
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter) rs1602349226
NM_000166.6(GJB1):c.358_360del (p.Val120del) rs1602349233
NM_000166.6(GJB1):c.359T>A (p.Val120Glu) rs1049663989
NM_000166.6(GJB1):c.371del (p.Lys124fs) rs1602349248
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.374T>A (p.Val125Asp) rs1602349254
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe) rs1602349257
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser) rs1602349258
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro) rs1602349268
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter) rs1602349272
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter) rs1602349272
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu) rs1602349272
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) rs1602349283
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter) rs1602349293
NM_000166.6(GJB1):c.397del (p.Trp133fs) rs1602349299
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) rs1602349302
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys) rs1602349302
NM_000166.6(GJB1):c.3G>T (p.Met1Ile) rs1602348524
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys) rs1602349309
NM_000166.6(GJB1):c.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) rs1602349322
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.419T>A (p.Val140Glu) rs923460745
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser) rs1569214995
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) rs1555937180
NM_000166.6(GJB1):c.424del (p.Arg142fs) rs1602349328
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro) rs1602349336
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del) rs1602349339
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) rs1602348598
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys) rs1602349346
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met) rs1602349347
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala) rs1602349349
NM_000166.6(GJB1):c.439del (p.Ala147fs) rs1602349352
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.43del (p.Arg15fs) rs1602348594
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp) rs1602349361
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile) rs1602349369
NM_000166.6(GJB1):c.445T>G (p.Phe149Val) rs1602349369
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu) rs1602348605
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn) rs1602349378
NM_000166.6(GJB1):c.451T>C (p.Tyr151His) rs1602349378
NM_000166.6(GJB1):c.454del (p.Val152fs) rs1602349383
NM_000166.6(GJB1):c.455T>A (p.Val152Asp) rs1602349388
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser) rs1602349399
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys) rs1602349399
NM_000166.6(GJB1):c.459_460del (p.Phe153fs) rs1602349393
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe) rs1602349418
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys) rs1602349427
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala) rs1602349430
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser) rs1602349430
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg) rs1602349439
NM_000166.6(GJB1):c.474del (p.Gly159fs) rs1602349441
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp) rs1602349446
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) rs1602349451
NM_000166.6(GJB1):c.47A>C (p.His16Pro) rs1602348610
NM_000166.6(GJB1):c.47A>T (p.His16Leu) rs1602348610
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro) rs1602349453
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp) rs1602349454
NM_000166.6(GJB1):c.484dup (p.Met162fs) rs1602349460
NM_000166.6(GJB1):c.48T>G (p.His16Gln) rs1270518681
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly) rs139643362
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro) rs1602349468
NM_000166.6(GJB1):c.498_502del (p.Lys167fs) rs1602349473
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu) rs1602349482
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg) rs1057518780
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr) rs1602349495
NM_000166.6(GJB1):c.508G>A (p.Val170Ile) rs748095370
NM_000166.6(GJB1):c.508G>T (p.Val170Phe) rs748095370
NM_000166.6(GJB1):c.509T>A (p.Val170Asp) rs1602349512
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr) rs1555937009
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) rs104894811
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg) rs1555937218
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg) rs1602349527
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) rs1602349535
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu) rs1602349540
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp) rs1602349545
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser) rs1602349555
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.530T>A (p.Val177Glu) rs1602349572
NM_000166.6(GJB1):c.530T>C (p.Val177Ala) rs1602349572
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr) rs1555937223
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) rs1555937224
NM_000166.6(GJB1):c.533A>T (p.Asp178Val) rs1555937224
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter) rs1602349585
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg) rs1602349591
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly) rs1602349591
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser) rs1602349610
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.541G>C (p.Val181Leu) rs879253909
NM_000166.6(GJB1):c.542T>C (p.Val181Ala) rs876661252
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr) rs1602349628
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys) rs1602349631
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe) rs1602349631
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser) rs863224471
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro) rs1555937233
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg) rs1602349646
NM_000166.6(GJB1):c.553_555del (p.Thr185del) rs1602349648
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs) rs1602349655
NM_000166.6(GJB1):c.557A>T (p.Glu186Val) rs1602349656
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala) rs1555937248
NM_000166.6(GJB1):c.571dup (p.Thr191fs) rs1602349676
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer) rs1602349684
NM_000166.6(GJB1):c.574G>T (p.Val192Phe) rs771579861
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys) rs1602349696
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu) rs1602349697
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala) rs1555937259
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe) rs1602349716
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg) rs772529850
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn) rs1569215025
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser) rs1569215025
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg) rs1602349726
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly) rs1602349726
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr) rs1602349730
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe) rs1602349730
NM_000166.6(GJB1):c.606del (p.Ile203fs) rs1602349746
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn) rs1602349749
NM_000166.6(GJB1):c.610C>G (p.Leu204Val) rs1064795540
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe) rs1064795540
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile) rs104894822
NM_000166.6(GJB1):c.617dup (p.Ala207fs) rs1602349763
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser) rs1602348633
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly) rs1602349768
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del) rs1602349772
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp) rs1602348640
NM_000166.6(GJB1):c.62G>T (p.Gly21Val) rs1602348640
NM_000166.6(GJB1):c.62del (p.Gly21fs) rs1602348638
NM_000166.6(GJB1):c.631T>C (p.Tyr211His) rs1602349785
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe) rs1602349796
NM_000166.6(GJB1):c.634del (p.Leu212fs) rs1602349791
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn) rs1602349801
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn) rs1602349807
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly) rs1555937020
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter) rs1602349821
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys) rs144381053
NM_000166.6(GJB1):c.656G>A (p.Arg219His) rs199834862
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro) rs1060501002
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726
NM_000166.6(GJB1):c.68T>C (p.Val23Ala) rs1602348650
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys) rs1602348530
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg) rs1602348654
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) rs200774406
NM_000166.6(GJB1):c.713G>A (p.Arg238His) rs776206757
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile) rs1602349901
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro) rs1602348665
NM_000166.6(GJB1):c.761dup (p.Gln255fs) rs1602349920
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer) rs1602349948
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu) rs1602349951
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter) rs587777876
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77del (p.Ser26fs) rs1602348679
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu) rs763991026
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer) rs1602349984
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) rs1602348537
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly) rs1602348537
NM_000166.6(GJB1):c.80T>C (p.Val27Ala) rs1602348686
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly) rs1602350047
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) rs866253945
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter) rs748676943
NM_000166.6(GJB1):c.84del (p.Phe29fs) rs1602348695
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu) rs1602348703
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) rs104894817
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly) rs1602348720
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn) rs1602348722
NM_000183.3(HADHB):c.210-1G>C rs200777054
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036
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.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
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.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
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 rs1222938795
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) rs1597632998
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.11del (p.Leu4fs) rs1597635843
NM_000304.4(PMP22):c.130_131del (p.Thr44fs) rs1597632943
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs) rs1597632913
NM_000304.4(PMP22):c.174_178+7del rs1597632803
NM_000304.4(PMP22):c.178+1G>C rs1597632815
NM_000304.4(PMP22):c.179-13C>G
NM_000304.4(PMP22):c.179-1G>A rs1597608220
NM_000304.4(PMP22):c.179-1G>C rs1597608220
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) rs1597608203
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.193G>T (p.Val65Phe) rs1597608152
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.206T>G (p.Met69Arg) rs104894620
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro) rs940401899
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) rs1597608086
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) rs104894621
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile) rs1597608049
NM_000304.4(PMP22):c.227del (p.Ser76fs) rs1597608057
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) rs863225027
NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1])
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro) rs1597607967
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg) rs1597607967
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) rs778693173
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) rs1555565234
NM_000304.4(PMP22):c.289del (p.Tyr97fs) rs1597607713
NM_000304.4(PMP22):c.297del (p.Gly100fs) rs1597607665
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu) rs1597607638
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.312del (p.Ala106fs) rs1597607585
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg) rs1597607558
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) rs1597607537
NM_000304.4(PMP22):c.318del (p.Gly107fs) rs1597607532
NM_000304.4(PMP22):c.319+16T>G rs751416357
NM_000304.4(PMP22):c.319+1G>A rs1597607514
NM_000304.4(PMP22):c.320-1G>C rs1597597908
NM_000304.4(PMP22):c.320G>T (p.Gly107Val) rs1597597900
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg) rs1597597876
NM_000304.4(PMP22):c.332T>C (p.Met111Thr) rs759808649
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg) rs1597597821
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs) rs1597597781
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.364_365del (p.Pro122fs) rs1597597725
NM_000304.4(PMP22):c.367del (p.Glu123fs) rs1597597710
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter) rs1597597683
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) rs1597597534
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg) rs1597597445
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs) rs1597597443
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) rs879253954
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly) rs28936682
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) rs749165928
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg) rs1597635677
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro) rs1597635666
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
NM_000304.4(PMP22):c.75_78+2del rs1597635535
NM_000304.4(PMP22):c.78+1G>T rs1426969421
NM_000304.4(PMP22):c.78+5G>A rs1174594975
NM_000304.4(PMP22):c.79-2A>G rs1597633171
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) rs1442525908
NM_000304.4(PMP22):c.88G>A (p.Val30Met) rs377335295
NM_000371.3(TTR):c.280G>C (p.Asp94His) rs730881164
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.368G>A (p.Arg123His) rs148538950
NM_000371.3(TTR):c.370C>T (p.Arg124Cys) rs745834030
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095
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) rs1589080632
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) rs1589080611
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) rs1589080524
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1147G>C (p.Asp383His) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer) rs1589080408
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) rs932803146
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)
NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup) rs746688326
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.938A>G (p.His313Arg)
NM_000399.5(EGR2):c.941A>C (p.His314Pro) rs768808272
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 rs1571822935
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596
NM_000530.8(MPZ):c.103G>C (p.Asp35His)
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) rs864622732
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.123_125del (p.Val42del) rs1571820248
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
NM_000530.8(MPZ):c.128G>T (p.Gly43Val) rs1571820237
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) rs121913598
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.136G>A (p.Val46Met) rs1571820190
NM_000530.8(MPZ):c.142C>G (p.Leu48Val) rs1180998665
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) rs1571820161
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) rs1571820161
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) rs1571820143
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
NM_000530.8(MPZ):c.149_151del (p.Cys50del) rs1553259792
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) rs1571820129
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) rs1553259785
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) rs1571820092
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.172G>T (p.Val58Phe) rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp) rs1571820049
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.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) rs1571819975
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) rs1571819964
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) rs201720099
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) rs1571819911
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) rs1571819890
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) rs1571819875
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) rs573007540
NM_000530.8(MPZ):c.223del (p.Asp75fs) rs1571819824
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.235-1G>C rs1571819375
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.242A>T (p.His81Leu) rs121913594
NM_000530.8(MPZ):c.243C>G (p.His81Gln) rs1571819354
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) rs1553259707
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) rs1571819301
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) rs1060503418
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290_293del (p.Glu97fs) rs1571819196
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) rs121913590
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) rs1553259683
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) rs1558154149
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) rs1571819127
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) rs1571819084
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) rs1060503420
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) rs1571819047
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) rs1468741050
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) rs1553259663
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) rs1553259662
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.342A>G (p.Ile114Met) rs1571818994
NM_000530.8(MPZ):c.346A>C (p.Asn116His) rs267607242
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) rs1571818972
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) rs1571818948
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) rs121913608
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp) rs1553259656
NM_000530.8(MPZ):c.368G>T (p.Gly123Val) rs1553259656
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) rs1571818858
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) rs1571818905
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del) rs1571818880
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) rs267607243
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) rs1571818845
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) rs772611598
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) rs1571818826
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) rs1571818819
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) rs1553259649
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) rs1571818800
NM_000530.8(MPZ):c.396_397del (p.Pro133fs) rs1571818797
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) rs1553259648
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) rs1571818775
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) rs1571818770
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.405A>G (p.Ile135Met) rs1571818752
NM_000530.8(MPZ):c.407T>A (p.Val136Glu) rs1571818744
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) rs863225025
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) rs863225025
NM_000530.8(MPZ):c.411C>T (p.Gly137=) rs1558153994
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) rs1571818712
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) rs1571818702
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) rs863224449
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) rs1456458087
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) rs750724650
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) rs1571818648
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.436G>T (p.Val146Phe) rs1571818627
NM_000530.8(MPZ):c.437T>G (p.Val146Gly) rs1571818614
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
NM_000530.8(MPZ):c.449-1G>A rs1571818339
NM_000530.8(MPZ):c.449-1G>C rs1571818339
NM_000530.8(MPZ):c.449-1G>T rs1571818339
NM_000530.8(MPZ):c.449-9C>T rs750530042
NM_000530.8(MPZ):c.45T>G (p.Ala15=) rs1571822805
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) rs1571818312
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.522_525del (p.Leu175fs) rs1571818114
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) rs140671661
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.550C>G (p.Leu184Val) rs1571818032
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) rs1571818007
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
NM_000530.8(MPZ):c.551del (p.Leu184fs) rs1571818021
NM_000530.8(MPZ):c.553del (p.Arg185fs) rs1571818002
NM_000530.8(MPZ):c.554del (p.Arg185fs) rs1571817993
NM_000530.8(MPZ):c.560_566del (p.Gln187fs) rs1571817945
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
NM_000530.8(MPZ):c.570del (p.Gln191fs) rs1571817919
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) rs761291277
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) rs932826788
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) rs1571817547
NM_000530.8(MPZ):c.626_630del (p.Ala209fs) rs1571817499
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.645+2dup rs1571817455
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr) rs1571817201
NM_000530.8(MPZ):c.661_662dup (p.Met222fs) rs1571817197
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) rs1571817154
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) rs1571817154
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) rs1571817094
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) rs1571816993
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) rs1571816977
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) rs771372609
NM_000902.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_000902.4(MME):c.1904G>A (p.Gly635Asp) rs151302020
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) rs767838513
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) rs1280243348
NM_001005360.2(DNM2):c.1335+1G>A rs1431565635
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln) rs140043676
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly) rs745748213
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) rs368752035
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.1645T>A (p.Ser549Thr) rs144763522
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) rs1269225724
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) rs773598203
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu) rs1274228418
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) rs587778236
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) rs752080566
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) rs374041367
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 rs200408852
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=) rs779394836
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys) rs374864354
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His) rs780738840
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) rs1285468865
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=) rs751961437
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
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
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.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=) rs144472798
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg) rs1340636700
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp) rs200408053
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser) rs1014814501
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn) rs370086632
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln) rs200002469
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) rs542515194
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys) rs767908123
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile) rs111845811
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) rs749672066
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) rs752195631
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val) rs145607989
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) rs781546006
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) rs587778235
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.1040C>T (p.Ser347Leu)
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
NM_001005361.3(DNM2):c.1196+626G>A
NM_001005361.3(DNM2):c.1196+640G>A
NM_001005361.3(DNM2):c.1196+707G>C
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.1438G>A (p.Asp480Asn)
NM_001005361.3(DNM2):c.1493+5G>A
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
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 rs963604980
NM_001005361.3(DNM2):c.1782-7C>G
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
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.2173A>G (p.Met725Val)
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) rs202136528
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
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.2311C>A (p.Pro771Thr)
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
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.2544-3C>T
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
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=) rs927749691
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
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) rs117398902
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
NM_001007792.1(NTRK1):c.1072G>A (p.Glu358Lys) rs1008878777
NM_001007792.1(NTRK1):c.1366G>A (p.Glu456Lys) rs144901788
NM_001007792.1(NTRK1):c.1443_1444insACATCGGG (p.Glu482fs) rs1571699222
NM_001007792.1(NTRK1):c.1447G>C (p.Gly483Arg) rs1571699241
NM_001007792.1(NTRK1):c.1456G>A (p.Gly486Arg) rs1571699266
NM_001007792.1(NTRK1):c.1582C>T (p.Leu528Phe) rs1571699773
NM_001007792.1(NTRK1):c.1625T>G (p.Val542Gly) rs1571699872
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028
NM_001007792.1(NTRK1):c.1646del (p.Leu549fs) rs1571699945
NM_001007792.1(NTRK1):c.1696C>T (p.Arg566Ter) rs763758904
NM_001007792.1(NTRK1):c.1759G>T (p.Gly587Cys) rs778746462
NM_001007792.1(NTRK1):c.1787_1788insA (p.Ser596fs) rs1571702751
NM_001007792.1(NTRK1):c.1838G>T (p.Arg613Leu) rs786205449
NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys) rs764992664
NM_001007792.1(NTRK1):c.2181C>G (p.Cys727Trp) rs1570912410
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu) rs756981419
NM_001007792.1(NTRK1):c.2200C>T (p.Gln734Ter) rs764816792
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs) rs1570912482
NM_001007792.1(NTRK1):c.2236C>T (p.Gln746Ter) rs1570912515
NM_001007792.1(NTRK1):c.406G>T (p.Gly136Ter) rs1571689630
NM_001007792.1(NTRK1):c.453del (p.Leu153fs) rs1485714154
NM_001007792.1(NTRK1):c.548T>C (p.Leu183Pro) rs747711259
NM_001007792.1(NTRK1):c.632dup (p.Gly212fs) rs1571693477
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs) rs1571695851
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys) rs121964869
NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.2(RETREG1):c.873+2T>C rs137852738
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001097642.3(GJB1):c.-16-475C>G
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) rs750807119
NM_001113491.2(SEPTIN9):c.1476+2T>G rs918808795
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) rs1598472570
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) rs1598484143
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) rs753322947
NM_001113491.2(SEPTIN9):c.19+4829C>A rs1598462622
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) rs760234906
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) rs1598317173
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) rs1598317232
NM_001113491.2(SEPTIN9):c.722-6324del rs1598433427
NM_001113491.2(SEPTIN9):c.722-6334T>C rs752934838
NM_001113491.2(SEPTIN9):c.722-6589G>C rs202206729
NM_001113491.2(SEPTIN9):c.722-6624T>C rs746223748
NM_001113491.2(SEPTIN9):c.722-7T>C rs770521896
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) rs536822441
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) rs587781247
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT rs1598444764
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.1306_1308GAG[1] (p.Glu437del) rs766213721
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg) rs1569829573
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs) rs763007983
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) rs146955132
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg) rs1599366542
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del) rs1599366474
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) rs1599366076
NM_001136473.1(LITAF):c.*1007G>A rs535657236
NM_001136473.1(LITAF):c.*1074A>G rs886051649
NM_001136473.1(LITAF):c.*107C>T rs774123275
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*1179A>C
NM_001136473.1(LITAF):c.*117C>T rs748017885
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 rs571908546
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 rs752383184
NM_001136473.1(LITAF):c.*173C>T rs768639690
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 rs797044848
NM_001136473.1(LITAF):c.*48T>C
NM_001136473.1(LITAF):c.*49G>A rs144232569
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>A rs754821950
NM_001136473.1(LITAF):c.*57G>C rs754821950
NM_001136473.1(LITAF):c.*625A>G
NM_001136473.1(LITAF):c.*63C>T rs1174214039
NM_001136473.1(LITAF):c.*688A>C
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>A rs121908615
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.124G>T (p.Gly42Trp)
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.157G>A (p.Gly53Arg)
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.199C>T (p.Pro67Ser)
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.220+4C>T
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala) rs756539992
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) rs1597329501
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) rs539627278
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
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) rs373445989
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
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) rs1597329148
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.55G>A (p.Ala19Thr)
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) rs201352515
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.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.474C>T (p.Arg158=) rs756879455
NM_001142386.3(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_001142386.3(PDK3):c.486C>T (p.Arg162=) rs1479754596
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=) rs144345856
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu) rs1569227273
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp) rs373919106
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val) rs1602487890
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys) rs750686775
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs) rs1602486072
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser) rs762901266
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) rs1602485728
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) rs1555938741
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) rs766871664
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=) rs777612473
NM_001303256.3(MORC2):c.1369+5T>A
NM_001303256.3(MORC2):c.1369+8_1369+9del rs1602485471
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) rs367704663
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys) rs1602485184
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.1532A>G (p.Gln511Arg)
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) rs749364295
NM_001303256.3(MORC2):c.158-4A>T rs763187520
NM_001303256.3(MORC2):c.158-5T>G
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln) rs750003469
NM_001303256.3(MORC2):c.1605-3C>T rs111618347
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu) rs1338480863
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser) rs756912389
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val) rs760345377
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.176G>A (p.Arg59Gln)
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) rs1602482166
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
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) rs1602481898
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly) rs200703581
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.1976G>A (p.Arg659Gln)
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.2038A>G (p.Thr680Ala)
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln) rs201772330
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) rs1602481313
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) rs142840638
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala) rs746418433
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 rs773796930
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) rs754626172
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp) rs751495570
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu) rs551185965
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
NM_001303256.3(MORC2):c.2380+1G>A rs113045177
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T rs1309634022
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
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) rs1602477856
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) rs372199572
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr) rs372297066
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His) rs202243108
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 rs368417146
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly) rs768569356
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
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.2941C>T (p.Arg981Cys)
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met) rs745339848
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
NM_001303256.3(MORC2):c.3030+6C>G rs1388656367
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
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) rs1602496057
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu) rs1602491814
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
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) rs750265510
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val) rs375266158
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) rs1355363942
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) rs1064796495
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.828G>A (p.Met276Ile)
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
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) rs369654856
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_001304481.1(FGD4):c.112A>T (p.Ile38Leu) rs886049253
NM_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del) rs1264651352
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs) rs1565921326
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs) rs751035912
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr) 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) rs150269814
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp) rs146174311
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) rs145734191
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro) rs1373209779
NM_001349253.2(SCN11A):c.4057-1G>A rs1575205608
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) rs1553630322
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) rs201107889
NM_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) rs1595430425
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs) rs1555378419
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs) rs1595415679
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) rs200328637
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
NM_001365951.3(KIF1B):c.2115+6205C>G rs771399291
NM_001365951.3(KIF1B):c.2115+6385G>A rs1569773823
NM_001365951.3(KIF1B):c.2115+6425T>C rs778186347
NM_001365951.3(KIF1B):c.2115+6548G>A rs781257253
NM_001365951.3(KIF1B):c.2115+7103A>G rs756513840
NM_001365951.3(KIF1B):c.2115+7159A>G rs1569777868
NM_001365951.3(KIF1B):c.2115+7161C>A rs766794209
NM_001365951.3(KIF1B):c.2115+7308A>C rs772349989
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His) rs145494902
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
NM_001365951.3(KIF1B):c.3259+3A>C
NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser) rs1569614217
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr) rs766990936
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile) rs1569897794
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys) rs754226097
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs) rs377576958
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro) rs1569935737
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
NM_001365951.3(KIF1B):c.959-16T>A
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) rs1574077431
NM_001371279.1(REEP1):c.304-2A>G rs387907242
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) rs587781248
NM_001376.4(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) rs1458996905
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
NM_001376.5(DYNC1H1):c.10213A>G (p.Met3405Val)
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn) rs766521055
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys) rs1407151844
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met) rs372041146
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.10613A>G (p.Gln3538Arg)
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695
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) rs148203153
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) rs774439464
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.1085C>T (p.Thr362Ile)
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) rs761427653
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 rs1595629239
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054
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) rs1595629587
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro) rs1595629612
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)
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) rs745812006
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
NM_001376.5(DYNC1H1):c.11776G>C (p.Gly3926Arg) rs879254035
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met) rs867293260
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser) rs1006593304
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg) rs1595630600
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys) rs767837334
NM_001376.5(DYNC1H1):c.11866-4A>T
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn) rs770525695
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 rs1595630836
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys) rs370026529
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=) rs1446298826
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg) rs1451197374
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe) rs1595631704
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser) rs768853660
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=) rs573819401
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg) rs1060499574
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
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.12589G>A (p.Ala4197Thr) rs879254018
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg) rs776972173
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup rs769593920
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys) rs1595633349
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly) rs770105370
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly) rs1298640455
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
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=) rs767564445
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
NM_001376.5(DYNC1H1):c.13006+4G>A rs1595633618
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.13076A>G (p.Glu4359Gly)
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) rs1206639344
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) rs770395590
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn) rs749297332
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
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) rs140033479
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln) rs376608392
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
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+3G>A
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13516-10C>A rs1595637656
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile) rs1595637702
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) rs192742245
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.13718A>G (p.Asn4573Ser) rs571005578
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.13730T>C (p.Leu4577Pro)
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr) rs544608488
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
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.13784A>G (p.Gln4595Arg)
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) rs753454594
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.13803G>C (p.Lys4601Asn)
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.13882A>G (p.Thr4628Ala)
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) rs200224597
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>A
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) rs1595600778
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.170A>G (p.Glu57Gly)
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
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) rs1383117534
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.2002G>A (p.Val668Ile)
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) rs1595601098
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.2294T>C (p.Val765Ala)
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184
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) rs371431746
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln) rs768932305
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
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=) rs1595601645
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser) rs749973847
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.2768C>T (p.Thr923Met)
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs) rs1595602265
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile) rs140141126
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.3015+3A>G rs1057522534
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
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.3100G>A (p.Glu1034Lys)
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.3287C>T (p.Ala1096Val)
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met) rs587780331
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
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.3742C>T (p.Arg1248Trp)
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg) rs1479995920
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.4089G>A (p.Leu1363=)
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln)
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.4264G>A (p.Val1422Ile)
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.4759C>G (p.Leu1587Val)
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>A (p.His1653Gln)
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys) rs925942859
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser) rs758191823
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5049+15G>A
NM_001376.5(DYNC1H1):c.5049+5A>G
NM_001376.5(DYNC1H1):c.5050-3C>T rs372462176
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) rs1595597551
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) rs1441272851
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.5317G>A (p.Gly1773Arg)
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln) rs1346194464
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 rs1382359405
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His) rs768520247
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys)
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) rs1595613980
NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala)
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=) rs138702876
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
NM_001376.5(DYNC1H1):c.6222-4C>T rs1382280530
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) rs1595614266
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.66G>C (p.Gln22His)
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile) rs1595615102
NM_001376.5(DYNC1H1):c.6743A>G (p.Glu2248Gly)
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.6997C>T (p.Leu2333Phe) rs1131691358
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
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.7161G>A (p.Leu2387=)
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp) rs1595616794
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.7318G>A (p.Ala2440Thr)
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile) rs1595617173
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys) rs1595590120
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) rs780160519
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln) rs1292509595
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) rs1567012503
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met) rs368463825
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His) rs756288729
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) rs1595617746
NM_001376.5(DYNC1H1):c.7849-7T>G
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile)
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) rs201272954
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
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.8216C>T (p.Pro2739Leu)
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr) rs773460120
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
NM_001376.5(DYNC1H1):c.8343+5G>A rs369653555
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp) rs762494017
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His) rs1595597922
NM_001376.5(DYNC1H1):c.8507+3A>G
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val) rs774677904
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
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=) rs752518392
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.5(DYNC1H1):c.9264G>A (p.Arg3088=)
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) rs1595623556
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.9456G>C (p.Gln3152His)
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) rs199966256
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) rs756906168
NM_001376.5(DYNC1H1):c.9883+3A>G
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu)
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.-15G>A rs756260929
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg) rs1554614432
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) rs1393404971
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
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=) rs749963653
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>A (p.Arg79Gln)
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
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.250G>T (p.Gly84Trp)
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005
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.340A>C (p.Lys114Gln)
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
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 rs767168094
NM_001540.5(HSPB1):c.365-67C>T rs1583965825
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
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.379C>A (p.Arg127=)
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) rs1583966042
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
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) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) rs1554614650
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
NM_001540.5(HSPB1):c.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) rs1240900244
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala) rs1032400275
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp) rs772767500
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del) rs1276065076
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) rs367857772
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
NM_001550.3(IFRD1):c.514A>G (p.Ile172Val) rs150651401
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) rs377163632
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) rs1597435885
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) rs1597446183
NM_001605.2(AARS1):c.333+3A>C rs747431164
NM_001605.2(AARS1):c.342A>C (p.Ala114=) rs190680402
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) rs139785247
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) rs762241422
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) rs1597440700
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) rs551899273
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro) rs767533880
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.3(AARS1):c.259G>A rs763757370
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) rs1597442205
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) rs1571845049
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly) rs1571845049
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) rs1584017371
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala) rs1584043561
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
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 rs747338292
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=) rs773889809
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346
NM_002047.4(GARS1):c.2044C>A (p.His682Asn) rs1437642803
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
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.301C>T (p.Arg101Cys) rs746056671
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) rs1584017035
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) rs758037738
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu) rs1554337168
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) rs1554337369
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) rs1301948344
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
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) rs1554337979
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) rs1594431740
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082
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) rs374845226
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) rs749343954
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
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) rs1594451196
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678
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) rs755120725
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394
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) rs373828321
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.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429
NM_002180.2(IGHMBP2):c.1632+4C>T rs775832239
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del) rs775542203
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914
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.1754A>G (p.Lys585Arg) rs146450269
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) rs776775995
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359
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) rs1594455594
NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610
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=) rs372382180
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
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=) rs773046519
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) rs1594456265
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.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly) rs1594415592
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) rs371546836
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) rs1300949116
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722
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) rs772387164
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477
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) rs1594458556
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.2818G>A (p.Ala940Thr) rs757839224
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
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.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs) rs1392401882
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) rs1034569953
NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
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) rs1594422735
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376
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) rs768803582
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.925A>G (p.Lys309Glu) rs200079527
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) rs1594431701
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) rs1161757831
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
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 rs762272501
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
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.1448A>T (p.Glu483Val)
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs) rs1594451999
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
NM_002180.3(IGHMBP2):c.1586_1587GT[3] (p.Pro531fs) rs1594453023
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
NM_002180.3(IGHMBP2):c.1756+5G>A
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
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.225G>A (p.Ala75=)
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
NM_002180.3(IGHMBP2):c.2612-3C>T
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) rs1594458354
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2773del (p.His925fs) rs1594458566
NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro) rs1594458574
NM_002180.3(IGHMBP2):c.2785-3C>G
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
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.2975G>T (p.Gly992Val)
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
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.919A>C (p.Asn307His)
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
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.986A>T (p.Glu329Val)
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
NM_002506.2(NGF):c.560G>A (p.Ser187Asn) rs1571069395
NM_002506.2(NGF):c.680C>A (p.Thr227Lys) rs1326012011
NM_002506.2(NGF):c.681_682del (p.Ala228fs) rs1571069258
NM_002529.3(NTRK1):c.1633-1G>T rs1571699664
NM_002529.3(NTRK1):c.354_359+3del rs1571685736
NM_002529.3(NTRK1):c.359+5G>T rs1571685765
NM_002529.3(NTRK1):c.429-1G>C rs748672380
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) rs746439204
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) rs199783239
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) rs370463792
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
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.1014C>G (p.Ser338Arg)
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) rs762473756
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.112del (p.Ile38fs)
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) rs1179946635
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) rs1569778143
NM_003680.3(YARS1):c.1281dup (p.Pro428fs)
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1349G>A (p.Arg450His)
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro) rs147005844
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer) rs777156625
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) rs1569696187
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.166A>G (p.Met56Val)
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) rs367649729
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) rs771657997
NM_003680.3(YARS1):c.209C>T (p.Thr70Ile)
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.232G>A (p.Ala78Thr)
NM_003680.3(YARS1):c.260G>A (p.Trp87Ter) rs776952611
NM_003680.3(YARS1):c.277C>T (p.Arg93Ter)
NM_003680.3(YARS1):c.294G>C (p.Glu98Asp)
NM_003680.3(YARS1):c.298G>A (p.Val100Met) rs766704849
NM_003680.3(YARS1):c.322A>G (p.Ile108Val)
NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
NM_003680.3(YARS1):c.362C>G (p.Thr121Ser)
NM_003680.3(YARS1):c.380+4A>G
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.425A>G (p.Gln142Arg)
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) rs1279417718
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) rs1191925938
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr) rs766166915
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.619C>T (p.Arg207Trp)
NM_003680.3(YARS1):c.631A>T (p.Met211Leu)
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.763G>A (p.Val255Met)
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
NM_003680.3(YARS1):c.799G>C (p.Val267Leu)
NM_003680.3(YARS1):c.819C>T (p.Ser273=)
NM_003680.3(YARS1):c.821-3T>C rs757673905
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_003680.3(YARS1):c.877G>A (p.Val293Met)
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn) rs779432834
NM_003680.3(YARS1):c.899C>T (p.Ala300Val)
NM_003680.3(YARS1):c.937G>A (p.Val313Ile)
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151
NM_003680.3:c.1373C>T
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His) rs1553465143
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe) rs765819985
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.1597G>A (p.Glu533Lys) rs1057517852
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
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) rs121909080
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.331A>G (p.Ser111Gly)
NM_004637.6(RAB7A):c.331del (p.Ser111fs) rs1576303712
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)
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.589C>T (p.Arg197Trp)
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) rs121909093
NM_004945.3(DNM2):c.1652_1659+1del rs1568314339
NM_004945.3(DNM2):c.1663_1665del (p.Lys555del) rs1599620398
NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del) rs1599620408
NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) rs121909088
NM_004945.3(DNM2):c.1697T>A (p.Leu566His) rs121909094
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del) rs1324559612
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del) rs1599643472
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) rs751129809
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) rs767132960
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) rs780028144
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723
NM_004990.4(MARS1):c.1368+3A>T
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
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 rs1594833474
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220
NM_004990.4(MARS1):c.1967+3A>G
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) rs1594835469
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
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) rs770756933
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile) rs1594836361
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.2556+1G>A
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn) rs1594838677
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val) rs1027516483
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
NM_004990.4(MARS1):c.415-5C>G
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.659del (p.Pro220fs)
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.734A>G (p.Glu245Gly) rs778753999
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.853A>T (p.Ile285Phe) rs776026574
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.97del (p.Thr32_Val33insTer)
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln)
NM_005340.7(HINT1):c.117T>A (p.Leu39=)
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)
NM_005340.7(HINT1):c.137C>A (p.Pro46His)
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe) rs1580684630
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)
NM_005340.7(HINT1):c.217-3C>T rs1351028496
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755
NM_005340.7(HINT1):c.242G>T (p.Gly81Val) rs1580682534
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.245A>T (p.Lys82Met)
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800
NM_005340.7(HINT1):c.292G>A (p.Val98Met)
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.329_330dup (p.Val111fs) rs1561535921
NM_005340.7(HINT1):c.331G>A (p.Val111Ile)
NM_005340.7(HINT1):c.341A>G (p.His114Arg) rs1580682427
NM_005340.7(HINT1):c.365A>T (p.His122Leu) rs780156681
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) rs1580682390
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)
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_005391.5(PDK3):c.1077+4C>T
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile)
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
NM_005548.2(KARS1):c.440_441dup (p.Arg148fs) rs1597170012
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) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436
NM_006070.6(TFG):c.1087T>G (p.Phe363Val)
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) rs1576390105
NM_006070.6(TFG):c.1172G>T (p.Gly391Val)
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro)
NM_006070.6(TFG):c.196A>G (p.Ile66Val)
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.256C>G (p.Leu86Val)
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) rs1576366321
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.409G>C (p.Glu137Gln)
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552
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) rs766899074
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) rs199724547
NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
NM_006070.6(TFG):c.608G>A (p.Arg203His)
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) rs1576379554
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
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.870A>G (p.Gly290=)
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) rs1210008384
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.976G>T (p.Ala326Ser)
NM_006070.6(TFG):c.97T>C (p.Tyr33His)
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) rs775650624
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp) rs1209851405
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
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) rs767058269
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=) rs750369546
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714
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) rs140634799
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp) rs769720211
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln) rs151322132
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