ClinVar Miner

List of variants reported as likely benign for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1236
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HGVS dbSNP
NG_013224.2:g.(?_4960)_(103567_105489)dup
NM_000032.5(ALAS2):c.-34C>T rs780642606
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) rs782161850
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) rs782026057
NM_000033.4(ABCD1):c.1781-7C>T rs79915675
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) rs1557055415
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) rs782336092
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) rs41310272
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241
NM_000052.7(ATP7A):c.2172+7G>T rs782433802
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) rs140156037
NM_000054.6(AVPR2):c.428G>A (p.Arg143His)
NM_000054.6(AVPR2):c.485T>C (p.Val162Ala)
NM_000054.6(AVPR2):c.734G>C (p.Gly245Ala)
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) rs61733407
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) rs148581967
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.5(COL4A3):c.*1360T>A
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.-101-4A>G rs147186690
NM_000092.4(COL4A4):c.1833T>C (p.Gly611=) rs145806603
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4731G>A (p.Ala1577=) rs200639109
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.5(COL4A4):c.*2239T>C
NM_000092.5(COL4A4):c.*718G>C
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.119-4G>A rs376605135
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105
NM_000108.5(DLD):c.267+9G>A rs188936529
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464
NM_000108.5(DLD):c.583-3C>T rs186031819
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000108.5(DLD):c.876-6A>T rs199944006
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.243C>T (p.Asp81=) rs150757295
NM_000117.2(EMD):c.276C>T (p.Asp92=) rs782680849
NM_000117.2(EMD):c.444G>A (p.Lys148=) rs781889750
NM_000117.2(EMD):c.459C>T (p.Pro153=) rs782147479
NM_000117.2(EMD):c.466G>A (p.Gly156Ser) rs144594695
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000117.2(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152
NM_000117.3(EMD):c.306C>T (p.Thr102=) rs782579799
NM_000117.3(EMD):c.330T>A (p.Ser110=) rs782666989
NM_000117.3(EMD):c.330T>G (p.Ser110=) rs782666989
NM_000117.3(EMD):c.400-9C>T rs782061626
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874
NM_000117.3(EMD):c.762C>T (p.Phe254=) rs1603366051
NM_000132.3(F8):c.102C>T (p.Asp34=) rs1800283
NM_000132.3(F8):c.1064G>A (p.Arg355Gln)
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.2383A>G (p.Arg795Gly) rs2228152
NM_000132.3(F8):c.2535C>A (p.Asp845Glu) rs200316756
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.3885C>G (p.Asn1295Lys) rs201393905
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.6276G>A (p.Val2092=) rs199522131
NM_000132.3(F8):c.6429+8606G>C rs1603432445
NM_000132.3(F8):c.6957G>A (p.Pro2319=) rs200902529
NM_000132.3(F8):c.748A>G (p.Met250Val) rs781943293
NM_000132.4(F8):c.*1379A>G
NM_000132.4(F8):c.*30G>A
NM_000132.4(F8):c.*992A>G
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)
NM_000132.4(F8):c.2217G>A (p.Glu739=)
NM_000132.4(F8):c.3981G>A (p.Thr1327=)
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg)
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe)
NM_000136.3(FANCC):c.996+1056C>A
NM_000136.3(FANCC):c.996+1752A>G
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.*151T>C rs659460
NM_000156.6(GAMT):c.*276C>T rs266810
NM_000156.6(GAMT):c.*311C>G rs266811
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000202.8(IDS):c.1006+8T>C rs782781942
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038
NM_000202.8(IDS):c.507+6G>T rs370769925
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256
NM_000240.3(MAOA):c.1545G>T (p.Gly515=) rs1223537199
NM_000240.3(MAOA):c.702C>T (p.Leu234=) rs370853887
NM_000240.3(MAOA):c.74-6C>T rs1196492976
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.423G>A (p.Ala141=) rs377311110
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) rs1557414507
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) rs1603208507
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136
NM_000252.3(MTM1):c.64-9T>C rs189752798
NM_000252.3(MTM1):c.954G>C (p.Arg318=) rs1557414126
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) rs376280495
NM_000276.4(OCRL):c.441G>A (p.Gly147=) rs199624352
NM_000284.4(PDHA1):c.*1926G>C
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.57+6A>T rs375415868
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319
NM_000307.5(POU3F4):c.*105C>T rs777244703
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293
NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_000377.2(WAS):c.1255C>A (p.Leu419Met) rs1422863482
NM_000377.2(WAS):c.360+8A>G rs1557006508
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.897G>A (p.Gly299=) rs782793103
NM_000377.3(WAS):c.1197A>G (p.Pro399=) rs1602179584
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) rs781903491
NM_000377.3(WAS):c.141C>T (p.Ala47=) rs1602176588
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413
NM_000377.3(WAS):c.390C>T (p.Asp130=) rs782593697
NM_000444.6(PHEX):c.*48G>A rs765479131
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1483-7T>C
NM_000444.6(PHEX):c.2068C>A (p.His690Asn)
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016
NM_000444.6(PHEX):c.537T>A (p.Val179=) rs137961493
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys) rs150484080
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1606A>G (p.Met536Val) rs781865069
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.5(ATRX):c.243-4A>T rs782131289
NM_000489.5(ATRX):c.2457A>G (p.Ser819=) rs1051441832
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2880C>T (p.Gly960=) rs782796279
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.3030A>G (p.Glu1010=) rs781816426
NM_000489.5(ATRX):c.3042T>C (p.Asp1014=) rs140476563
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.5(ATRX):c.3462A>G (p.Ser1154=) rs782121260
NM_000489.5(ATRX):c.3537C>T (p.Val1179=) rs782800250
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.3663C>T (p.Ser1221=) rs1214349616
NM_000489.5(ATRX):c.3786T>C (p.Asp1262=) rs782113542
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4203G>A (p.Arg1401=) rs1399734659
NM_000489.5(ATRX):c.4329G>A (p.Glu1443=) rs782044671
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4368G>A (p.Glu1456=) rs1557117399
NM_000489.5(ATRX):c.4422A>C (p.Gly1474=) rs1603084380
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880
NM_000489.5(ATRX):c.4863G>A (p.Thr1621=) rs782108010
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5484T>C (p.Pro1828=) rs782803109
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.567C>T (p.His189=) rs1603233545
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6036G>A (p.Glu2012=) rs376679217
NM_000489.5(ATRX):c.6505-8T>C rs782548527
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.7044A>G (p.Gln2348=) rs375935735
NM_000489.5(ATRX):c.7201-4A>G rs782317502
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.820T>C (p.Leu274=) rs146012355
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.299-5T>C rs377576551
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.4(PDHB):c.*201T>C
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.150T>C (p.Asp50=) rs367846961
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804
NM_000925.4(PDHB):c.498T>C (p.Tyr166=) rs757249455
NM_000925.4(PDHB):c.501G>T (p.Gly167=) rs759053641
NM_000925.4(PDHB):c.564A>G (p.Lys188=) rs146996786
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599
NM_000925.4(PDHB):c.97-5G>A rs200429396
NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.3(NEXMIF):c.347A>G (p.Asn116Ser) rs147908044
NM_001008537.3(NEXMIF):c.637A>C (p.Arg213=) rs767229255
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-232G>A rs756766337
NM_001018113.3(FANCB):c.-70-246C>T rs5935816
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.3(FANCB):c.2166-176A>G rs6527026
NM_001018113.3(FANCB):c.2166-186T>C rs6527027
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.3(FANCB):c.951+129A>C rs2375729
NM_001039891.3(ZNF674):c.*1232C>T rs148701104
NM_001039891.3(ZNF674):c.*1722G>A rs142380680
NM_001039891.3(ZNF674):c.*769C>T rs139157714
NM_001039891.3(ZNF674):c.*866G>C rs183973467
NM_001039891.3(ZNF674):c.1693A>C (p.Lys565Gln) rs377222456
NM_001039891.3(ZNF674):c.601C>T (p.Arg201Ter) rs182004761
NM_001039891.3(ZNF674):c.707A>G (p.Lys236Arg) rs201621696
NM_001039891.3(ZNF674):c.74T>G (p.Leu25Arg) rs180994790
NM_001042537.1(SLC9A6):c.1237-8C>T rs1060504684
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) rs1556619315
NM_001042537.1(SLC9A6):c.141C>T (p.Gly47=) rs139299794
NM_001042537.1(SLC9A6):c.148G>T (p.Ala50Ser) rs367724979
NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_001042537.1(SLC9A6):c.1899A>T (p.Thr633=) rs782629258
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.369G>A (p.Pro123=) rs782600941
NM_001042537.1(SLC9A6):c.672C>T (p.Phe224=) rs1423014570
NM_001042537.1(SLC9A6):c.705G>A (p.Thr235=) rs782386487
NM_001077269.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153
NM_001077269.1(WIPF1):c.1116G>A (p.Pro372=) rs138920689
NM_001077269.1(WIPF1):c.1170C>T (p.Ser390=) rs1205840828
NM_001077269.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750
NM_001077269.1(WIPF1):c.1497T>A (p.Pro499=) rs749710168
NM_001077269.1(WIPF1):c.212G>A (p.Gly71Asp) rs145037448
NM_001077269.1(WIPF1):c.243C>T (p.Gly81=) rs146533814
NM_001077269.1(WIPF1):c.30G>A (p.Pro10=) rs745425874
NM_001077269.1(WIPF1):c.32C>T (p.Pro11Leu) rs148943760
NM_001077269.1(WIPF1):c.936T>G (p.Pro312=) rs1040586347
NM_001077269.1(WIPF1):c.975C>G (p.Ser325=) rs751419161
NM_001077269.1(WIPF1):c.978C>G (p.Ser326Arg) rs147080148
NM_001077269.1(WIPF1):c.987C>T (p.Asp329=) rs201234000
NM_001082486.2(ACD):c.100-6C>T rs1597774112
NM_001082486.2(ACD):c.242+8G>A rs1402954442
NM_001082486.2(ACD):c.330C>A (p.Gly110=) rs1214995325
NM_001082486.2(ACD):c.493+7T>C rs199626332
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549
NM_001082486.2(ACD):c.846C>T (p.Pro282=) rs199856965
NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) rs1057522072
NM_001110556.2(FLNA):c.108G>A (p.Ala36=) rs782572024
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001110556.2(FLNA):c.1170C>A (p.Gly390=) rs1603362865
NM_001110556.2(FLNA):c.1229-8C>T rs376190976
NM_001110556.2(FLNA):c.1260C>T (p.Ile420=) rs1351119633
NM_001110556.2(FLNA):c.141C>T (p.Asn47=) rs1603363922
NM_001110556.2(FLNA):c.1429+9G>A rs782226711
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) rs782376419
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) rs200673062
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001110556.2(FLNA):c.1932C>T (p.Ala644=) rs1221420896
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) rs782344845
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001110556.2(FLNA):c.2023-5G>A rs782694533
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001110556.2(FLNA):c.2280+9A>G rs1603362191
NM_001110556.2(FLNA):c.2309A>G (p.Asn770Ser) rs1557178374
NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001110556.2(FLNA):c.237G>T (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001110556.2(FLNA):c.2405-4G>A rs368187218
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) rs374672498
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943
NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001110556.2(FLNA):c.2838C>T (p.Gly946=) rs782612987
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=) rs782062750
NM_001110556.2(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=) rs782643175
NM_001110556.2(FLNA):c.3429C>A (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=) rs782300292
NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile) rs782495669
NM_001110556.2(FLNA):c.373+10G>A rs368292402
NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001110556.2(FLNA):c.3805+10C>T rs1603361041
NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=) rs367931067
NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=) rs782414490
NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=) rs1375431086
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4236C>T (p.Val1412=) rs782589572
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001110556.2(FLNA):c.441C>T (p.His147=) rs781951563
NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001110556.2(FLNA):c.4755+5G>A rs199803218
NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=) rs781789823
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=) rs781846478
NM_001110556.2(FLNA):c.4945+3G>A rs372673802
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) rs782555986
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=) rs782646183
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) rs782031542
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) rs1027131950
NM_001110556.2(FLNA):c.5313+4C>T rs377330443
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783
NM_001110556.2(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=) rs372028899
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.5861-9C>T rs782153045
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe) rs190712778
NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) rs782618234
NM_001110556.2(FLNA):c.5973G>A (p.Ser1991=) rs375252292
NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln) rs782401919
NM_001110556.2(FLNA):c.60C>T (p.Gly20=) rs1557180245
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) rs782365685
NM_001110556.2(FLNA):c.622+10C>T rs781889769
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe) rs782157246
NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=) rs781913265
NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=) rs782255283
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526
NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=) rs781992483
NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=) rs782053327
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001110556.2(FLNA):c.6657G>A (p.Gln2219=) rs1210861581
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) rs376461465
NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=) rs1557175875
NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=) rs782356784
NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=) rs374786760
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928
NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=) rs781843787
NM_001110556.2(FLNA):c.7152C>T (p.Asp2384=) rs1603358785
NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=) rs1557175472
NM_001110556.2(FLNA):c.720+8C>T rs371927910
NM_001110556.2(FLNA):c.7275T>C (p.His2425=) rs781857682
NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=) rs782750091
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg) rs199677057
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556
NM_001110556.2(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001110556.2(FLNA):c.957C>T (p.Tyr319=) rs373561030
NM_001110556.2(FLNA):c.988-10C>T rs1603362942
NM_001110556.2(FLNA):c.999C>T (p.Thr333=) rs1167180795
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572
NM_001110792.2(MECP2):c.1198_1203CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) rs782086416
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664
NM_001111125.3(IQSEC2):c.1000-9C>T rs1556864744
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=) rs1602383725
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=) rs782503727
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) rs1057522131
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=) rs1556880287
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=) rs782768601
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp) rs1569302404
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn)
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=) rs1556862965
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=) rs781978108
NM_001111125.3(IQSEC2):c.2750-9C>T rs1556861395
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=) rs371055459
NM_001111125.3(IQSEC2):c.2890-6G>A rs184248834
NM_001111125.3(IQSEC2):c.294C>T (p.His98=) rs1556880235
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=) rs1602259971
NM_001111125.3(IQSEC2):c.3501+7G>T rs1221336765
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
NM_001111125.3(IQSEC2):c.3546T>G (p.Pro1182=) rs1602258133
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=) rs1315062158
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=) rs1286507586
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) rs1057521625
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=) rs1460397663
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=) rs1556880172
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=) rs1602256870
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=) rs1216934275
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=) rs1556858970
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=) rs1556880086
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=) rs1411580863
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=) rs782062867
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759
NM_001122606.1(LAMP2):c.*192dup rs113549733
NM_001122606.1(LAMP2):c.*620_*622GTT[3] rs199705754
NM_001122606.1(LAMP2):c.1094-1005dup rs373005118
NM_001122606.1(LAMP2):c.1094-549AT[9] rs753399289
NM_001123385.2(BCOR):c.1287G>A (p.Lys429=) rs775664343
NM_001123385.2(BCOR):c.1391C>T (p.Thr464Met) rs749999323
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr) rs748813798
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=) rs963000229
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser) rs61744882
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=) rs1442932290
NM_001123385.2(BCOR):c.285A>G (p.Gly95=) rs143135906
NM_001123385.2(BCOR):c.2916C>T (p.Tyr972=) rs370067698
NM_001123385.2(BCOR):c.300A>G (p.Lys100=) rs775494265
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) rs775994643
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966
NM_001123385.2(BCOR):c.453A>G (p.Thr151=) rs1450768568
NM_001123385.2(BCOR):c.978G>A (p.Pro326=) rs751650335
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.3(PDK3):c.751-10A>G rs372774822
NM_001166158.1(PDHX):c.-208C>T rs555380381
NM_001167.3(XIAP):c.1100A>G (p.Asp367Gly) rs200273554
NM_001167.3(XIAP):c.688G>A (p.Val230Ile) rs144884904
NM_001167.3(XIAP):c.73G>C (p.Glu25Gln) rs781204574
NM_001167.3(XIAP):c.933G>A (p.Lys311=) rs749597959
NM_001167.3(XIAP):c.962C>G (p.Ala321Gly) rs182340753
NM_001167.3(XIAP):c.978G>A (p.Gly326=) rs376282989
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) rs754032170
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=) rs1040413042
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=) rs200756110
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=) rs772345040
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=) rs181719144
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=) rs767664406
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=) rs773244265
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) rs766347338
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=) rs369638371
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.2(PCDH19):c.894C>T (p.Val298=) rs1362026055
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=) rs1381662261
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG rs58566947
NM_001291867.2(NHS):c.2887C>T (p.Leu963=) rs757651281
NM_001291867.2(NHS):c.966G>A (p.Pro322=) rs745327335
NM_001323289.2(CDKL5):c.100-7C>T rs752279222
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala) rs1187227979
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=) rs760623086
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=) rs1602292116
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.554+10C>T rs755385076
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr)
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=) rs1348754333
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser)
NM_001330574.2(ZNF711):c.*1260G>A rs73234669
NM_001330574.2(ZNF711):c.*1411G>A rs779890560
NM_001330574.2(ZNF711):c.1464C>T (p.Val488=) rs140843429
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn)
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=) rs782387990
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=) rs782354481
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=) rs782097997
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu) rs369081815
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=) rs782580975
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) rs145815177
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=) rs782671712
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) rs138198839
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=) rs55818901
NM_001353921.2(ARHGEF9):c.402+7A>T rs373304318
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys)
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=) rs782187939
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) rs56182751
NM_001353921.2(ARHGEF9):c.583-11dup rs782366734
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=) rs782598343
NM_001353921.2(ARHGEF9):c.815+8A>G rs1464003224
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=) rs199625034
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532
NM_001378477.1(NYX):c.*152A>G
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) rs746523921
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052
NM_001399.5(EDA):c.804T>C (p.Gly268=) rs779193585
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403
NM_001931.4(DLAT):c.-156C>G rs115067052
NM_001931.4(DLAT):c.-157G>A rs587688778
NM_001931.4(DLAT):c.-598C>T rs78298568
NM_001931.4(DLAT):c.-637G>A rs114863504
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.*1109C>T rs75608010
NM_001931.5(DLAT):c.*873T>C rs73568056
NM_001931.5(DLAT):c.*96C>A rs534753
NM_001931.5(DLAT):c.1035A>G (p.Pro345=) rs140302942
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.5(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.5(DLAT):c.1476C>T (p.Pro492=) rs370501604
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr) rs140678772
NM_001931.5(DLAT):c.675C>T (p.Ala225=) rs782220140
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.5(DLAT):c.969A>C (p.Pro323=) rs587627931
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) rs201580891
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) rs376847375
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.1093+9C>T rs371259269
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) rs749338632
NM_002294.3(LAMP2):c.184-9T>G rs774218764
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.453T>C (p.Phe151=) rs200348335
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) rs371959861
NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.202-5del rs767110636
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_002496.4(NDUFS8):c.*40A>G rs61329983
NM_002496.4(NDUFS8):c.-45A>C rs4147776
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002764.3(PRPS1):c.-153del rs768856537
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792
NM_003159.2(CDKL5):c.2784G>A (p.Thr928=) rs369383134
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3059C>A (p.Thr1020Lys) rs757994307
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003179.2(SYP):c.*1128C>G rs782190288
NM_003179.2(SYP):c.*1131G>A rs781914486
NM_003179.2(SYP):c.*1239G>A rs181070015
NM_003179.2(SYP):c.*582G>A rs73634216
NM_003179.2(SYP):c.*727G>A rs377123834
NM_003179.2(SYP):c.*814A>G rs781882625
NM_003179.2(SYP):c.*969G>A rs782481686
NM_003179.2(SYP):c.312C>T (p.Ala104=) rs185819998
NM_003179.2(SYP):c.54G>A (p.Gln18=) rs781815856
NM_003179.2(SYP):c.687C>T (p.Ala229=) rs201427270
NM_003179.2(SYP):c.868G>T (p.Gly290Trp) rs376222680
NM_003179.2(SYP):c.877G>A (p.Gly293Ser) rs139475570
NM_003387.5(WIPF1):c.851_853CTC[5] (p.Pro287dup) rs556678311
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003477.3(PDHX):c.*114A>G rs76663700
NM_003477.3(PDHX):c.*904G>T
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) rs724160027
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.4(NDUFA10):c.*1217A>G
NM_004544.4(NDUFA10):c.*1382C>T
NM_004544.4(NDUFA10):c.*1878C>T
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.4(NDUFA10):c.*2202C>T
NM_004544.4(NDUFA10):c.*2495C>T rs78395168
NM_004544.4(NDUFA10):c.*2511C>T
NM_004544.4(NDUFA10):c.*3075T>G rs7588974
NM_004544.4(NDUFA10):c.*3349G>A rs77216981
NM_004544.4(NDUFA10):c.*3544C>T
NM_004544.4(NDUFA10):c.*407C>T rs74614612
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004586.3(RPS6KA3):c.1000-7C>T rs1555933444
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004606.5(TAF1):c.1188_1190TCT[1] (p.Leu398del) rs1602468194
NM_004606.5(TAF1):c.1765A>G (p.Ile589Val) rs1602485648
NM_004606.5(TAF1):c.2305A>G (p.Arg769Gly) rs1602500103
NM_004606.5(TAF1):c.5304G>C (p.Glu1768Asp) rs1602753978
NM_004606.5(TAF1):c.5599A>T (p.Ser1867Cys) rs753892104
NM_004606.5(TAF1):c.802C>T (p.Arg268Cys) rs1399230018
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004840.2(ARHGEF6):c.-232G>A rs183947764
NM_004840.3(ARHGEF6):c.*131_*134del rs775186031
NM_004840.3(ARHGEF6):c.*1531C>T rs181090402
NM_004840.3(ARHGEF6):c.*158A>G rs112837910
NM_004840.3(ARHGEF6):c.*176G>A rs745563328
NM_004840.3(ARHGEF6):c.*179C>T rs146018376
NM_004840.3(ARHGEF6):c.*1817dup rs751450350
NM_004840.3(ARHGEF6):c.*197_*199GTT[1] rs770569536
NM_004840.3(ARHGEF6):c.*2021A>G rs151143657
NM_004840.3(ARHGEF6):c.*2062T>C rs142057050
NM_004840.3(ARHGEF6):c.*2082T>G rs144027474
NM_004840.3(ARHGEF6):c.*2346C>T rs41312580
NM_004840.3(ARHGEF6):c.*2469C>T rs189644416
NM_004840.3(ARHGEF6):c.*38C>T rs747771125
NM_004840.3(ARHGEF6):c.*545C>T rs182548859
NM_004840.3(ARHGEF6):c.1190C>G (p.Thr397Ser) rs532348958
NM_004840.3(ARHGEF6):c.1446T>C (p.Ser482=) rs775489071
NM_004840.3(ARHGEF6):c.166-11T>C rs140322310
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300
NM_004840.3(ARHGEF6):c.685G>A (p.Val229Ile) rs75329154
NM_004992.3(MECP2):c.378-42A>G rs786205893
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_005006.7(NDUFS1):c.*158T>C rs3770989
NM_005006.7(NDUFS1):c.*256C>T rs10198830
NM_005006.7(NDUFS1):c.*399G>A rs77000728
NM_005006.7(NDUFS1):c.*53T>G
NM_005006.7(NDUFS1):c.*574T>G
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.7(NDUFS1):c.1393-7T>A
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.7(NDUFS1):c.551+14C>A rs10206644
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388
NM_005120.3(MED12):c.1269G>A (p.Glu423=) rs758467351
NM_005120.3(MED12):c.1323C>T (p.Phe441=) rs371928861
NM_005120.3(MED12):c.147T>A (p.Pro49=) rs774875020
NM_005120.3(MED12):c.1659C>T (p.Ile553=) rs763388314
NM_005120.3(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.3(MED12):c.2372-10C>T rs752691764
NM_005120.3(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.3(MED12):c.2698C>T (p.Leu900=) rs1470081405
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594
NM_005120.3(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.3(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.3(MED12):c.3918C>T (p.Asp1306=) rs372389957
NM_005120.3(MED12):c.3934T>C (p.Leu1312=) rs1406760316
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4194A>G (p.Ser1398=) rs1319823223
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801
NM_005120.3(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.6165_6173GCAACAGCA[3] (p.Gln2074_Gln2076dup) rs762261992
NM_005120.3(MED12):c.6177_6182ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6273G>A (p.Gln2091=) rs1556340048
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149
NM_005120.3(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.3(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.3(MED12):c.6303G>A (p.Gln2101=) rs1490399010
NM_005120.3(MED12):c.6321G>A (p.Gln2107=) rs778103349
NM_005120.3(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.3(MED12):c.6327G>A (p.Gln2109=) rs1333460909
NM_005120.3(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.3(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005120.3(MED12):c.966T>C (p.Ala322=) rs370616416
NM_005249.5(FOXG1):c.1122C>T (p.Tyr374=) rs777855975
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860
NM_005249.5(FOXG1):c.1200C>T (p.Tyr400=) rs138747073
NM_005249.5(FOXG1):c.1320C>G (p.Ser440=) rs1057524328
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.1399C>T (p.Leu467=) rs371279404
NM_005249.5(FOXG1):c.141_143CCA[8] (p.His57dup) rs587783630
NM_005249.5(FOXG1):c.159C>T (p.His53=) rs769410384
NM_005249.5(FOXG1):c.164_166ACC[4] (p.His57dup) rs772407998
NM_005249.5(FOXG1):c.183_206del (p.Ala62_Pro69del) rs587783632
NM_005249.5(FOXG1):c.189G>T (p.Pro63=) rs796052451
NM_005249.5(FOXG1):c.196C>G (p.Pro66Ala)
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944
NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del) rs1466028633
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup) rs587783634
NM_005249.5(FOXG1):c.219_221GCC[5] (p.Pro80del) rs786200975
NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.233_247del (p.Pro78_Pro82del) rs1466765630
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005249.5(FOXG1):c.246G>C (p.Pro82=) rs1555321242
NM_005249.5(FOXG1):c.281A>C (p.Asp94Ala) rs1206977063
NM_005249.5(FOXG1):c.287A>G (p.Asp96Gly)
NM_005249.5(FOXG1):c.323C>T (p.Pro108Leu) rs1594383213
NM_005249.5(FOXG1):c.324A>G (p.Pro108=) rs750512461
NM_005249.5(FOXG1):c.347T>C (p.Leu116Pro) rs1594383240
NM_005249.5(FOXG1):c.417C>T (p.Pro139=) rs1018810212
NM_005249.5(FOXG1):c.420C>A (p.Val140=) rs967306759
NM_005249.5(FOXG1):c.431_436AGAAGG[3] (p.144_145EK[3]) rs1594383335
NM_005249.5(FOXG1):c.432G>C (p.Glu144Asp) rs547825816
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637
NM_005249.5(FOXG1):c.459G>T (p.Gly153=) rs1057520968
NM_005249.5(FOXG1):c.477G>A (p.Ala159=) rs1057523583
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138
NM_005249.5(FOXG1):c.555C>T (p.Ser185=) rs778154529
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742
NM_005249.5(FOXG1):c.618C>T (p.Gly206=) rs930327703
NM_005249.5(FOXG1):c.798C>T (p.Ile266=) rs753051078
NM_005249.5(FOXG1):c.852G>A (p.Leu284=) rs537686463
NM_005249.5(FOXG1):c.887G>T (p.Gly296Val)
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393
NM_005629.4(SLC6A8):c.1146G>A (p.Pro382=) rs782627741
NM_005629.4(SLC6A8):c.1164C>A (p.Ala388=) rs1394306160
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=) rs782416756
NM_005629.4(SLC6A8):c.1242T>C (p.Gly414=) rs1458755240
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=) rs368950125
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) rs782667574
NM_005629.4(SLC6A8):c.1393-7C>T rs373525249
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=) rs781974297
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364
NM_005629.4(SLC6A8):c.1495+8A>G rs1057523669
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys) rs782488606
NM_005629.4(SLC6A8):c.1505G>A (p.Arg502His) rs1453689278
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=) rs151335200
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394
NM_005629.4(SLC6A8):c.1597-4G>A rs1312663828
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=) rs369726574
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=) rs369715906
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) rs2314070
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295
NM_005629.4(SLC6A8):c.1768-9C>G rs782234529
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=) rs782481058
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=) rs1803330
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=) rs782748657
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=) rs782128137
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val) rs1198790754
NM_005629.4(SLC6A8):c.333G>A (p.Ser111=) rs781916894
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=) rs1060504719
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=) rs782593568
NM_005629.4(SLC6A8):c.543C>T (p.Cys181=) rs1221310274
NM_005629.4(SLC6A8):c.644+8C>T rs782433720
NM_005629.4(SLC6A8):c.644+9G>A rs200353790
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.913-8T>C rs1557045039
NM_005629.4(SLC6A8):c.927G>A (p.Ala309=) rs781807737
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=) rs782197450
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=) rs371516458
NM_005629.4(SLC6A8):c.984C>G (p.Gly328=) rs1276576915
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=) rs775818303
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137
NM_006859.4(LIAS):c.168G>A (p.Arg56=) rs768182597
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) rs147516123
NM_006859.4(LIAS):c.393+7C>A rs372423537
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792
NM_006859.4(LIAS):c.737+9G>A rs750744754
NM_006859.4(LIAS):c.7C>T (p.Leu3=) rs1553933562
NM_006859.4(LIAS):c.807G>A (p.Gln269=) rs140846573
NM_006859.4(LIAS):c.81G>A (p.Pro27=) rs760501971
NM_006950.3(SYN1):c.1063C>T (p.Leu355=) rs191822319
NM_006950.3(SYN1):c.1065G>A (p.Leu355=) rs1410566216
NM_006950.3(SYN1):c.1122G>A (p.Ala374=) rs757867825
NM_006950.3(SYN1):c.1137C>T (p.Asp379=) rs762471804
NM_006950.3(SYN1):c.1159-7C>T rs767722750
NM_006950.3(SYN1):c.1263G>A (p.Gln421=) rs746903128
NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro) rs375440874
NM_006950.3(SYN1):c.1389A>C (p.Pro463=) rs1435656023
NM_006950.3(SYN1):c.1470_1472GCA[1] (p.Gln491del) rs775858141
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185
NM_006950.3(SYN1):c.1629T>C (p.Pro543=) rs1027134708
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_006950.3(SYN1):c.1701A>T (p.Thr567=) rs770195822
NM_006950.3(SYN1):c.1815C>T (p.Ser605=) rs1452773137
NM_006950.3(SYN1):c.1818G>A (p.Gln606=) rs967215240
NM_006950.3(SYN1):c.189G>T (p.Pro63=) rs371739376
NM_006950.3(SYN1):c.1944C>T (p.Ala648=) rs1556857414
NM_006950.3(SYN1):c.1968G>A (p.Pro656=) rs199844514
NM_006950.3(SYN1):c.249G>T (p.Ala83=) rs780753887
NM_006950.3(SYN1):c.303C>T (p.Gly101=) rs1603078601
NM_006950.3(SYN1):c.579A>G (p.Ala193=) rs1556860653
NM_006950.3(SYN1):c.756C>T (p.Tyr252=) rs1556860614
NM_006950.3(SYN1):c.789G>A (p.Thr263=) rs754541700
NM_006950.3(SYN1):c.939C>T (p.Asp313=) rs373928763
NM_007103.4(NDUFV1):c.*79C>T rs76839099
NM_007130.3(ZNF41):c.*416A>T rs140632042
NM_007130.3(ZNF41):c.*49T>C rs368268713
NM_007130.3(ZNF41):c.*957A>G rs186160175
NM_007130.3(ZNF41):c.*982A>C rs751899353
NM_007130.3(ZNF41):c.-224G>A rs189238889
NM_007130.3(ZNF41):c.-42G>A rs199983184
NM_007130.3(ZNF41):c.1275A>T (p.Ala425=) rs769418347
NM_007130.3(ZNF41):c.1398G>A (p.Pro466=) rs61739400
NM_007130.3(ZNF41):c.1578T>A (p.Ala526=) rs148848609
NM_007130.3(ZNF41):c.1700A>G (p.Lys567Arg) rs188241859
NM_007130.3(ZNF41):c.1997C>T (p.Ala666Val) rs144970008
NM_007130.3(ZNF41):c.2114G>A (p.Arg705His) rs144904486
NM_007130.3(ZNF41):c.2116C>T (p.Leu706Phe) rs201527995
NM_007130.3(ZNF41):c.2309G>C (p.Ser770Thr) rs201039022
NM_007130.3(ZNF41):c.2310T>C (p.Ser770=) rs148100650
NM_007130.3(ZNF41):c.332C>T (p.Pro111Leu) rs104894955
NM_007130.3(ZNF41):c.590A>G (p.Lys197Arg) rs148585367
NM_007130.3(ZNF41):c.627T>C (p.Ser209=) rs147511357
NM_007130.3(ZNF41):c.664A>G (p.Asn222Asp) rs745547425
NM_007130.3(ZNF41):c.73-7G>A rs3827423
NM_007130.3(ZNF41):c.743A>G (p.Tyr248Cys) rs140726688
NM_007130.3(ZNF41):c.746A>C (p.Glu249Ala) rs34445771
NM_007130.3(ZNF41):c.786G>A (p.Gln262=) rs2498490
NM_007130.3(ZNF41):c.945T>G (p.Asp315Glu) rs2498170
NM_007137.3(ZNF81):c.*1216G>C rs190335043
NM_007137.3(ZNF81):c.*1782C>T rs782284307
NM_007137.3(ZNF81):c.*2191C>T rs782062721
NM_007137.3(ZNF81):c.*2549A>G rs148356633
NM_007137.3(ZNF81):c.*2605G>A rs782376829
NM_007137.3(ZNF81):c.*2624A>G rs141557587
NM_007137.3(ZNF81):c.*284T>C rs187907741
NM_007137.3(ZNF81):c.*2988G>A rs782291969
NM_007137.3(ZNF81):c.*3879C>G rs782815002
NM_007137.3(ZNF81):c.*4003G>A rs192009953
NM_007137.3(ZNF81):c.*4053T>G rs5953122
NM_007137.3(ZNF81):c.*4100G>A rs782467926
NM_007137.3(ZNF81):c.*4304A>G rs7878660
NM_007137.3(ZNF81):c.*455G>A rs191380891
NM_007137.3(ZNF81):c.*456T>A rs183606613
NM_007137.3(ZNF81):c.*4848G>A rs781982171
NM_007137.3(ZNF81):c.*55C>G rs782807346
NM_007137.3(ZNF81):c.*630A>G rs782306405
NM_007137.3(ZNF81):c.*65A>G rs192847204
NM_007137.3(ZNF81):c.*699C>T rs782777974
NM_007137.3(ZNF81):c.*720A>G rs781983142
NM_007137.3(ZNF81):c.-146C>T rs116316712
NM_007137.3(ZNF81):c.147A>G (p.Val49=) rs782661971
NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val) rs182239885
NM_007137.3(ZNF81):c.1539C>A (p.Leu513=) rs186529018
NM_007137.3(ZNF81):c.1923C>T (p.Ser641=) rs375228884
NM_007137.3(ZNF81):c.229G>A (p.Glu77Lys) rs201504654
NM_007137.3(ZNF81):c.417A>G (p.Ile139Met) rs189835360
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) rs41312157
NM_007137.3(ZNF81):c.554C>T (p.Ser185Leu) rs186251256
NM_007137.3(ZNF81):c.8C>T (p.Ala3Val) rs183846665
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) rs144902457
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) rs189437004
NM_013995.2(LAMP2):c.1142T>C (p.Val381Ala) rs1301008847
NM_013995.2(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_013995.2(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_013995.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_013995.2(LAMP2):c.640C>A (p.Pro214Thr) rs776101722
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016
NM_014165.4(NDUFAF4):c.*1214G>A
NM_014165.4(NDUFAF4):c.*1299G>A
NM_014165.4(NDUFAF4):c.*350A>C rs41288598
NM_014165.4(NDUFAF4):c.*387C>T rs41288596
NM_014165.4(NDUFAF4):c.*639A>C
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=) rs375935170
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861
NM_014467.3(SRPX2):c.257G>A (p.Arg86His) rs776691028
NM_014467.3(SRPX2):c.355+8G>T rs772952088
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253
NM_014467.3(SRPX2):c.732T>C (p.Tyr244=) rs1556013511
NM_014467.3(SRPX2):c.809C>T (p.Pro270Leu) rs148735447
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014467.3(SRPX2):c.982G>A (p.Val328Ile) rs753573260
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105
NM_015957.4(APIP):c.-30T>C
NM_015957.4(APIP):c.57+91G>T
NM_016013.4(NDUFAF1):c.-379C>T rs146883891
NM_016013.4(NDUFAF1):c.-386A>T rs111326645
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001
NM_016032.4(ZDHHC9):c.1056C>T (p.Pro352=) rs1381138968
NM_016032.4(ZDHHC9):c.1064_1065insCCCACAGCC (p.Pro355_Gln357dup) rs1413822794
NM_016032.4(ZDHHC9):c.489G>A (p.Glu163=) rs1339214564
NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=) rs766780497
NM_016032.4(ZDHHC9):c.808G>A (p.Val270Ile)
NM_016032.4(ZDHHC9):c.858G>T (p.Val286=) rs1556004572
NM_016032.4(ZDHHC9):c.85G>A (p.Val29Ile)
NM_016032.4(ZDHHC9):c.873G>A (p.Leu291=) rs1556004565
NM_016032.4(ZDHHC9):c.876C>T (p.Pro292=) rs1556004557
NM_016032.4(ZDHHC9):c.900T>C (p.Gly300=) rs1556004503
NM_017547.4(FOXRED1):c.*190T>C rs77902129
NM_017547.4(FOXRED1):c.*93G>A
NM_017875.4(SLC25A38):c.*472G>T rs141567816
NM_017875.4(SLC25A38):c.*809C>T rs71325527
NM_017875.4(SLC25A38):c.-303A>C rs114422738
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902
NM_018444.4(PDP1):c.*1736G>C rs116788695
NM_018444.4(PDP1):c.*51G>T rs149521176
NM_020717.3(SHROOM4):c.2165G>A (p.Arg722His) rs3761506
NM_020717.3(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288
NM_021074.4(NDUFV2):c.*77C>G rs12454908
NM_021074.5(NDUFV2):c.580-12T>A rs114558512
NM_021120.4(DLG3):c.409-4G>T rs188475429
NM_021998.5(ZNF711):c.-214_-212GGC[9] rs758475553
NM_022567.2(NYX):c.*414C>T rs58930096
NM_022567.2(NYX):c.*736G>C rs141612904
NM_022567.2(NYX):c.1035G>A (p.Glu345=) rs143486101
NM_022567.2(NYX):c.1198G>A (p.Gly400Ser) rs189924262
NM_022567.2(NYX):c.1227C>T (p.Thr409=) rs187149252
NM_022567.2(NYX):c.1394G>T (p.Cys465Phe) rs374968384
NM_022567.2(NYX):c.843G>A (p.Glu281=) rs3810733
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024921.4(POF1B):c.*1173C>A rs7062790
NM_024921.4(POF1B):c.*1808A>G rs56307558
NM_025152.3(NUBPL):c.*1451C>T rs28533800
NM_025152.3(NUBPL):c.*26C>G
NM_025152.3(NUBPL):c.*537dup rs200626091
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436
NM_031206.4(LAS1L):c.1371C>T (p.Ser457=) rs761061736
NM_031206.4(LAS1L):c.159G>A (p.Gln53=) rs144560954
NM_031206.4(LAS1L):c.381A>G (p.Ser127=) rs992864125
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) rs1602910127
NM_033380.3(COL4A5):c.1855C>T (p.Pro619Ser) rs1569494314
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033380.3(COL4A5):c.4200A>G (p.Gly1400=) rs1603318167
NM_033380.3(COL4A5):c.4300C>A (p.Leu1434Met) rs1569508163
NM_033380.3(COL4A5):c.891+9T>G rs779787322
NM_080632.2(UPF3B):c.*40G>A rs199925511
NM_080632.2(UPF3B):c.*49C>T rs182885401
NM_080632.2(UPF3B):c.*725G>A rs146388339
NM_080632.2(UPF3B):c.-100G>A rs769093842
NM_080632.2(UPF3B):c.-13G>C rs185511642
NM_080632.2(UPF3B):c.-67T>G rs761175084
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706
NM_139058.3(ARX):c.1033C>A (p.Arg345=) rs1601948273
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656
NM_139058.3(ARX):c.1448+9C>A rs759009252
NM_139058.3(ARX):c.1488C>T (p.Thr496=) rs773666007
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509
NM_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296
NM_139058.3(ARX):c.264G>A (p.Leu88=) rs1556056513
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306_308GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308
NM_139058.3(ARX):c.351C>A (p.Ala117=) rs1313243538
NM_139058.3(ARX):c.372G>A (p.Glu124=) rs1006764242
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)
NM_139058.3(ARX):c.441A>C (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522
NM_139058.3(ARX):c.450C>A (p.Ala150=) rs1410039382
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628
NM_139058.3(ARX):c.602C>A (p.Pro201Gln) rs1484238484
NM_139058.3(ARX):c.611G>A (p.Arg204His) rs755745002
NM_139058.3(ARX):c.642C>A (p.Ala214=) rs997439358
NM_139058.3(ARX):c.663C>G (p.Thr221=) rs1006404746
NM_139058.3(ARX):c.678C>T (p.Asp226=) rs764730866
NM_139058.3(ARX):c.708T>C (p.Asp236=) rs763458576
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205
NM_139058.3(ARX):c.855G>A (p.Glu285=) rs139301257
NM_139058.3(ARX):c.921C>A (p.Gly307=) rs398124519
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_153252.5(BRWD3):c.*2744A>G rs148045997
NM_153252.5(BRWD3):c.*4194C>A rs189047883
NM_153252.5(BRWD3):c.*6025dup rs201004001
NM_153252.5(BRWD3):c.2325+5G>A rs186391561
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg) rs200751676
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_175614.4(NDUFA11):c.-234T>C rs115530541
NM_198270.4(NHS):c.2214T>C (p.Tyr738=) rs1323986389
NM_198270.4(NHS):c.2846C>T (p.Thr949Met) rs373464879
NM_198270.4(NHS):c.3030G>A (p.Thr1010=) rs1157246576
NM_198270.4(NHS):c.3723G>A (p.Thr1241=) rs150235442
NM_198270.4(NHS):c.408C>T (p.Leu136=) rs1555981412

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