ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1683
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HGVS dbSNP
NC_000004.12:g.(?_39458194)_(39527105_?)dup
NC_000004.12:g.(?_39459098)_(39477135_?)dup
NC_000014.9:g.(?_28767260)_(28768769_?)dup
NC_000014.9:g.31012250_32193706del1181457
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.109412385_109552503dup
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_18506935)_(18510854_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24465436)_(24539184_?)dup
NC_000023.11:g.(?_24494722)_(24539184_?)del
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_47572844)_(47619748_?)dup
NC_000023.11:g.(?_47604958)_(47619748_?)dup
NC_000023.11:g.(?_71129114)_(71130214_?)dup
NG_009896.1:g.5147G>A
NM_000033.3(ABCD1):c.*10C>T rs1057515814
NM_000033.3(ABCD1):c.*196C>G rs367591611
NM_000033.3(ABCD1):c.*208G>C rs193922092
NM_000033.3(ABCD1):c.*259A>G rs374092960
NM_000033.3(ABCD1):c.*412T>C rs1057515815
NM_000033.3(ABCD1):c.*481G>T rs199942817
NM_000033.3(ABCD1):c.*530G>A rs67211405
NM_000033.3(ABCD1):c.*555_*561delGAGAGGG rs1057515816
NM_000033.3(ABCD1):c.*795C>T rs1057515817
NM_000033.3(ABCD1):c.*870G>T rs72616452
NM_000033.3(ABCD1):c.*903G>A rs78155328
NM_000033.3(ABCD1):c.-10C>T rs782754717
NM_000033.3(ABCD1):c.-342G>A rs912340339
NM_000033.3(ABCD1):c.1181C>T (p.Ala394Val)
NM_000033.3(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.3(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.3(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.3(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.3(ABCD1):c.1523C>A (p.Pro508His)
NM_000033.3(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.3(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.3(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.3(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.3(ABCD1):c.1599G>T (p.Lys533Asn)
NM_000033.3(ABCD1):c.1644G>A (p.Met548Ile)
NM_000033.3(ABCD1):c.1746_1748delCGT (p.Val583del) rs1557054859
NM_000033.3(ABCD1):c.1747G>A (p.Val583Met)
NM_000033.3(ABCD1):c.1763T>A (p.Ile588Asn)
NM_000033.3(ABCD1):c.1780+4G>A rs193922095
NM_000033.3(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.3(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.3(ABCD1):c.2134C>T (p.Arg712Cys)
NM_000033.3(ABCD1):c.229_237delTGGCTCCTG (p.Trp77_Leu79del)
NM_000033.3(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.3(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.3(ABCD1):c.415_417delCTC (p.Leu139del) rs1557052351
NM_000033.3(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.3(ABCD1):c.433A>G (p.Thr145Ala)
NM_000033.3(ABCD1):c.452T>C (p.Ile151Thr)
NM_000033.3(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.3(ABCD1):c.50G>A (p.Arg17His)
NM_000033.3(ABCD1):c.582C>G (p.Asp194Glu)
NM_000033.3(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.3(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.3(ABCD1):c.773T>C (p.Leu258Pro)
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.3(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)
NM_000052.6(ATP7A):c.1159A>C (p.Thr387Pro)
NM_000052.6(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.6(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.6(ATP7A):c.1789G>A (p.Val597Met) rs781959472
NM_000052.6(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.6(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
NM_000052.6(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.6(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.6(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.6(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.6(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.6(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.6(ATP7A):c.2815G>A (p.Gly939Ser)
NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.6(ATP7A):c.3028_3030delACTinsGTG (p.Thr1010Val) rs1557236745
NM_000052.6(ATP7A):c.3037_3038delATinsGA (p.Met1013Glu) rs1557236747
NM_000052.6(ATP7A):c.317C>T (p.Thr106Ile)
NM_000052.6(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.6(ATP7A):c.3457A>G (p.Ser1153Gly)
NM_000052.6(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.6(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.6(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.6(ATP7A):c.3790A>G (p.Ile1264Val)
NM_000052.6(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.6(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.6(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.6(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.6(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.6(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.6(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.6(ATP7A):c.502G>A (p.Ala168Thr)
NM_000052.6(ATP7A):c.844A>G (p.Ile282Val)
NM_000052.6(ATP7A):c.92G>A (p.Gly31Glu)
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000108.3(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.3(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.4(DLD):c.*1088A>G rs886061912
NM_000108.4(DLD):c.*1092C>T rs546777301
NM_000108.4(DLD):c.*1307C>T rs568807016
NM_000108.4(DLD):c.*167T>C rs886061909
NM_000108.4(DLD):c.*1724C>G rs886061913
NM_000108.4(DLD):c.*1736T>C rs190655078
NM_000108.4(DLD):c.*1791_*1794delTTTA rs760145994
NM_000108.4(DLD):c.*1857A>C rs774099916
NM_000108.4(DLD):c.*1877A>G rs182010485
NM_000108.4(DLD):c.*225C>T rs553824101
NM_000108.4(DLD):c.*355A>G rs886061910
NM_000108.4(DLD):c.*470G>A rs111619940
NM_000108.4(DLD):c.*498T>G rs886061911
NM_000108.4(DLD):c.*648G>A rs57801571
NM_000108.4(DLD):c.-8G>T rs372155330
NM_000108.4(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.4(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.4(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.4(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.4(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.4(DLD):c.1463del (p.Pro488Argfs) rs1554400720
NM_000108.4(DLD):c.1465-7C>G rs886061908
NM_000108.4(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.4(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.267+15delT rs886061906
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.439-6G>C rs369208046
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.55C>G (p.Arg19Gly)
NM_000108.4(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.4(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.4(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.4(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000194.2(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.2(HPRT1):c.536T>C (p.Val179Ala)
NM_000202.7(IDS):c.1144G>C (p.Asp382His)
NM_000202.7(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.7(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000240.3(MAOA):c.402G>A (p.Met134Ile)
NM_000240.3(MAOA):c.890G>A (p.Arg297Gln)
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu)
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
NM_000252.2(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.2(MTM1):c.1667G>A (p.Arg556His)
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro)
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.481G>A (p.Val161Met)
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.65C>T (p.Thr22Met)
NM_000252.2(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000276.3(OCRL):c.1367A>C (p.Gln456Pro)
NM_000276.3(OCRL):c.1514G>A (p.Gly505Glu)
NM_000276.3(OCRL):c.1602G>A (p.Gly534=) rs773214157
NM_000276.3(OCRL):c.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.3(OCRL):c.40-5C>T rs201211377
NM_000284.3(PDHA1):c.265G>A (p.Gly89Ser)
NM_000284.3(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.3(PDHA1):c.759+26G>A rs1555934413
NM_000291.3(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.3(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000314.4(PTEN):c.-1154G>A rs786203674
NM_000314.4(PTEN):c.-1190G>A rs587779982
NM_000314.4(PTEN):c.-1246C>G rs1554889801
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.-821G>T rs587779993
NM_000314.4(PTEN):c.-834C>T rs587779994
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.6(PTEN):c.-665G>A rs553371022
NM_000314.6(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.6(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.6(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000425.4(L1CAM):c.1570C>T (p.Pro524Ser)
NM_000425.4(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518
NM_000425.4(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_000489.4(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.4(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.4(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.4(ATRX):c.2150C>T (p.Pro717Leu) rs372617572
NM_000489.4(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.4(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.4(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.4(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.4(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.4(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.4(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.4(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.4(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.4(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.4(ATRX):c.4347_4358delAGAAGAGGAGGA (p.Glu1461_Glu1464del) rs1557117424
NM_000489.4(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.4(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.4(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.4(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del)
NM_000489.5(ATRX):c.1509A>G (p.Gln503=)
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg)
NM_000489.5(ATRX):c.167T>A (p.Met56Lys)
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val)
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly)
NM_000489.5(ATRX):c.2247_2249del (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu)
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn)
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile)
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val)
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln)
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile)
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val)
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile)
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile)
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4359_4361del (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys)
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro)
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5974_5976delTCT (p.Ser1992del)
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile)
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr)
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu)
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys)
NM_000489.5(ATRX):c.829G>C (p.Val277Leu)
NM_000531.5(OTC):c.*105C>T rs1036076773
NM_000531.5(OTC):c.*276A>G rs1016109235
NM_000531.5(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.5(OTC):c.216+9C>T rs774764719
NM_000531.5(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.5(OTC):c.298+2dup rs1555972540
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.307C>T (p.Leu103Phe)
NM_000531.5(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.5(OTC):c.385C>T (p.Arg129Cys) rs140046498
NM_000531.5(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.5(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.5(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.5(OTC):c.817_819delGAG (p.Glu273del) rs72558452
NM_000531.5(OTC):c.867+1126A>G
NM_000533.4(PLP1):c.41C>A (p.Ala14Asp)
NM_000533.4(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_000533.4(PLP1):c.677C>G (p.Ser226Cys)
NM_000828.4(GRIA3):c.2116A>C (p.Met706Leu)
NM_000828.4(GRIA3):c.2447C>T (p.Thr816Ile)
NM_000828.4(GRIA3):c.527C>T (p.Ala176Val) rs764670975
NM_000925.3(PDHB):c.*199T>G rs886058777
NM_000925.3(PDHB):c.*360A>G rs886058776
NM_000925.3(PDHB):c.*366_*367insAA rs886058775
NM_000925.3(PDHB):c.-26G>A rs201243189
NM_000925.3(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.3(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.3(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.3(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.3(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.3(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.3(PDHB):c.701-3C>T rs377063331
NM_000925.3(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.3(PDHB):c.793-19_793-14delGATTAT rs759146810
NM_000925.3(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile)
NM_001008222.2(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679
NM_001008537.2(NEXMIF):c.1121G>A (p.Gly374Glu)
NM_001008537.2(NEXMIF):c.1154G>A (p.Gly385Asp) rs375109305
NM_001008537.2(NEXMIF):c.1256A>G (p.Glu419Gly) rs1018310077
NM_001008537.2(NEXMIF):c.1328G>A (p.Ser443Asn)
NM_001008537.2(NEXMIF):c.1349A>T (p.Tyr450Phe)
NM_001008537.2(NEXMIF):c.1370A>G (p.Lys457Arg)
NM_001008537.2(NEXMIF):c.16G>T (p.Asp6Tyr)
NM_001008537.2(NEXMIF):c.1757G>C (p.Gly586Ala)
NM_001008537.2(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.2(NEXMIF):c.1904G>C (p.Arg635Thr) rs766086192
NM_001008537.2(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047
NM_001008537.2(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608
NM_001008537.2(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126
NM_001008537.2(NEXMIF):c.2363T>C (p.Leu788Pro)
NM_001008537.2(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.2(NEXMIF):c.2504A>C (p.His835Pro) rs762983389
NM_001008537.2(NEXMIF):c.2508T>G (p.His836Gln)
NM_001008537.2(NEXMIF):c.2605T>C (p.Ser869Pro)
NM_001008537.2(NEXMIF):c.2986A>G (p.Met996Val)
NM_001008537.2(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.2(NEXMIF):c.3574T>C (p.Ser1192Pro)
NM_001008537.2(NEXMIF):c.3653A>G (p.Gln1218Arg)
NM_001008537.2(NEXMIF):c.3775G>A (p.Ala1259Thr)
NM_001008537.2(NEXMIF):c.3782G>C (p.Cys1261Ser) rs1339493509
NM_001008537.2(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.2(NEXMIF):c.4289A>C (p.Lys1430Thr)
NM_001008537.2(NEXMIF):c.563A>C (p.Asn188Thr) rs753449220
NM_001008537.2(NEXMIF):c.61A>G (p.Asn21Asp)
NM_001008537.2(NEXMIF):c.911G>T (p.Gly304Val)
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)
NM_001015877.1(PHF6):c.113delA (p.Lys38Argfs) rs1057519064
NM_001018113.2(FANCB):c.-230A>T rs1020271259
NM_001018113.2(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.2(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.2(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.2(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.2(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.2(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.2(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.2(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.2(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.2(FANCB):c.952-13C>T rs1057515807
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu) rs138133927
NM_001039590.2(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019
NM_001039591.2(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001081550.1(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.1(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.1(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.1(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.1(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)
NM_001105243.1(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001105243.1(PCDH19):c.2218C>T (p.Arg740Cys) rs376390125
NM_001105243.1(PCDH19):c.2601A>G (p.Gln867=) rs61742914
NM_001105243.1(PCDH19):c.2834C>A (p.Ala945Glu) rs371109150
NM_001105243.1(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001105243.1(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001110556.1(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.1(FLNA):c.2122C>T (p.Arg708Trp)
NM_001110556.1(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498
NM_001110556.1(FLNA):c.5075_5092dup (p.Asp1697_Val1698insAspGlySerGluValAsp)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
NM_001110792.1(MECP2):c.-27_-26delAG rs587783128
NM_001110792.1(MECP2):c.-27_-26delAGinsTT rs786205039
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.1(MECP2):c.1049C>G (p.Thr350Ser) rs786204313
NM_001110792.1(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.1(MECP2):c.1490_1493delTTAG (p.Val497Alafs) rs267608640
NM_001110792.1(MECP2):c.15_23dup (p.Ala8_Pro9insAlaAlaAla) rs398123566
NM_001110792.1(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.1(MECP2):c.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly) rs587783744
NM_001110792.1(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.1(MECP2):c.62+1G>A rs786205048
NM_001110792.1(MECP2):c.991G>A (p.Val331Met)
NM_001122606.1(LAMP2):c.-26_-15dupGCCGTCGCCGCC rs1556124241
NM_001123385.1(BCOR):c.1260_1261invTG (p.Gly421Ser)
NM_001123385.1(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001142386.2(PDK3):c.1126G>A (p.Ala376Thr)
NM_001142386.2(PDK3):c.160C>T (p.Pro54Ser)
NM_001142386.2(PDK3):c.320+6T>C rs748960946
NM_001142386.2(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.2(PDK3):c.597delT (p.Asp199Glufs)
NM_001142386.2(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001169124.1(AFF2):c.*4554C>G rs864321652
NM_001173455.1(PDHA1):c.448G>A (p.Gly150Arg) rs1057518695
NM_001184.3(ATR):c.3152G>A (p.Arg1051His)
NM_001184880.1(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.1(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.1(PCDH19):c.1142A>G (p.Asn381Ser)
NM_001184880.1(PCDH19):c.1148G>A (p.Arg383His)
NM_001184880.1(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.1(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.1(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.1(PCDH19):c.1292C>G (p.Pro431Arg)
NM_001184880.1(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.1(PCDH19):c.1342G>T (p.Asp448Tyr)
NM_001184880.1(PCDH19):c.1355A>G (p.His452Arg)
NM_001184880.1(PCDH19):c.1477G>A (p.Val493Met) rs773087045
NM_001184880.1(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.1(PCDH19):c.1853_1857delACCAGinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu)
NM_001184880.1(PCDH19):c.1854C>G (p.Asp618Glu)
NM_001184880.1(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.1(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.1(PCDH19):c.224A>G (p.Asn75Ser) rs796052790
NM_001184880.1(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.1(PCDH19):c.2308G>C (p.Gly770Arg)
NM_001184880.1(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.1(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.1(PCDH19):c.242T>G (p.Leu81Arg)
NM_001184880.1(PCDH19):c.2479C>G (p.Arg827Gly)
NM_001184880.1(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.1(PCDH19):c.2657G>A (p.Arg886Gln)
NM_001184880.1(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.1(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.1(PCDH19):c.3021C>G (p.Asp1007Glu)
NM_001184880.1(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.1(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.1(PCDH19):c.3299A>G (p.Asn1100Ser)
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.3341G>C (p.Arg1114Pro)
NM_001184880.1(PCDH19):c.3370G>C (p.Glu1124Gln)
NM_001184880.1(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.1(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.1(PCDH19):c.528G>T (p.Leu176=)
NM_001184880.1(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.1(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.1(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.1(PCDH19):c.58G>C (p.Ala20Pro)
NM_001184880.1(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.1(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.1(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.1(PCDH19):c.792T>G (p.Asp264Glu)
NM_001184880.1(PCDH19):c.827_829delCCT (p.Ser276del)
NM_001184880.1(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.1(PCDH19):c.919G>A (p.Glu307Lys)
NM_001184880.1(PCDH19):c.91G>A (p.Glu31Lys)
NM_001184898.1(PHF8):c.2207G>A (p.Arg736Gln) rs1263803925
NM_001278116.1(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991
NM_001356.4(DDX3X):c.58G>T (p.Asp20Tyr)
NM_001415.3(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001456.3(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001456.3(FLNA):c.125A>G (p.Lys42Arg)
NM_001456.3(FLNA):c.1309C>T (p.Arg437Trp)
NM_001456.3(FLNA):c.1319G>C (p.Ser440Thr)
NM_001456.3(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001456.3(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001456.3(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001456.3(FLNA):c.1438C>T (p.Pro480Ser)
NM_001456.3(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001456.3(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001456.3(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001456.3(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001456.3(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001456.3(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001456.3(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001456.3(FLNA):c.168C>G (p.His56Gln)
NM_001456.3(FLNA):c.1693C>T (p.Pro565Ser)
NM_001456.3(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001456.3(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001456.3(FLNA):c.1958A>G (p.Asp653Gly)
NM_001456.3(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001456.3(FLNA):c.196A>T (p.Asn66Tyr)
NM_001456.3(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001456.3(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001456.3(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001456.3(FLNA):c.2254_2268delGTCAGCATCCCCAACinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001456.3(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001456.3(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001456.3(FLNA):c.2410G>A (p.Val804Ile) rs374130804
NM_001456.3(FLNA):c.2483G>A (p.Arg828His)
NM_001456.3(FLNA):c.2483G>C (p.Arg828Pro) rs1347740802
NM_001456.3(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001456.3(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001456.3(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001456.3(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001456.3(FLNA):c.2791A>G (p.Asn931Asp) rs190437842
NM_001456.3(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001456.3(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001456.3(FLNA):c.2826+4G>A rs1037180469
NM_001456.3(FLNA):c.2831C>T (p.Pro944Leu)
NM_001456.3(FLNA):c.2839G>A (p.Val947Ile)
NM_001456.3(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001456.3(FLNA):c.2974A>G (p.Thr992Ala)
NM_001456.3(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001456.3(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269
NM_001456.3(FLNA):c.3260G>A (p.Arg1087His) rs369668866
NM_001456.3(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159
NM_001456.3(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001456.3(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080
NM_001456.3(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001456.3(FLNA):c.34G>T (p.Ala12Ser)
NM_001456.3(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395
NM_001456.3(FLNA):c.3602C>T (p.Ala1201Val)
NM_001456.3(FLNA):c.3611C>T (p.Pro1204Leu) rs376726422
NM_001456.3(FLNA):c.3647C>T (p.Thr1216Met)
NM_001456.3(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001456.3(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277
NM_001456.3(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001456.3(FLNA):c.3940G>A (p.Asp1314Asn)
NM_001456.3(FLNA):c.3979+5G>A
NM_001456.3(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001456.3(FLNA):c.4018G>A (p.Val1340Met)
NM_001456.3(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801
NM_001456.3(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001456.3(FLNA):c.410T>A (p.Ile137Asn)
NM_001456.3(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001456.3(FLNA):c.4424C>T (p.Thr1475Ile) rs1557177388
NM_001456.3(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001456.3(FLNA):c.4452G>C (p.Gln1484His)
NM_001456.3(FLNA):c.4475-4C>T rs199652065
NM_001456.3(FLNA):c.4499T>C (p.Val1500Ala)
NM_001456.3(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579
NM_001456.3(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001456.3(FLNA):c.4696G>A (p.Val1566Met)
NM_001456.3(FLNA):c.4721_4732delACGCCGGGGAGG (p.Asp1574_Glu1577del) rs1557177229
NM_001456.3(FLNA):c.4755+5G>A rs199803218
NM_001456.3(FLNA):c.4825G>A (p.Val1609Met)
NM_001456.3(FLNA):c.487G>A (p.Ala163Thr)
NM_001456.3(FLNA):c.5009C>T (p.Ala1670Val)
NM_001456.3(FLNA):c.5035A>G (p.Thr1679Ala)
NM_001456.3(FLNA):c.5074G>A (p.Val1692Met)
NM_001456.3(FLNA):c.5318A>G (p.Asn1773Ser) rs373089783
NM_001456.3(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001456.3(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001456.3(FLNA):c.5567A>G (p.Asn1856Ser) rs782095418
NM_001456.3(FLNA):c.5686G>A (p.Gly1896Ser) rs782549964
NM_001456.3(FLNA):c.569G>A (p.Arg190Gln) rs782447567
NM_001456.3(FLNA):c.5762C>T (p.Pro1921Leu)
NM_001456.3(FLNA):c.5887A>T (p.Ile1963Phe) rs190712778
NM_001456.3(FLNA):c.5927C>T (p.Thr1976Met) rs782639698
NM_001456.3(FLNA):c.5954G>C (p.Arg1985Pro)
NM_001456.3(FLNA):c.6023C>T (p.Thr2008Met) rs781946802
NM_001456.3(FLNA):c.6083C>T (p.Pro2028Leu) rs1557176131
NM_001456.3(FLNA):c.6193C>T (p.Arg2065Cys) rs782069230
NM_001456.3(FLNA):c.6196G>A (p.Asp2066Asn) rs371611462
NM_001456.3(FLNA):c.6244G>C (p.Val2082Leu) rs968230475
NM_001456.3(FLNA):c.6245T>C (p.Val2082Ala)
NM_001456.3(FLNA):c.6283A>G (p.Arg2095Gly) rs370277156
NM_001456.3(FLNA):c.6296G>C (p.Cys2099Ser) rs1557176052
NM_001456.3(FLNA):c.6352C>T (p.Pro2118Ser) rs782400832
NM_001456.3(FLNA):c.6370G>A (p.Val2124Met) rs201396725
NM_001456.3(FLNA):c.6391C>T (p.Arg2131Trp) rs782761341
NM_001456.3(FLNA):c.6541G>A (p.Glu2181Lys)
NM_001456.3(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001456.3(FLNA):c.6695A>G (p.Lys2232Arg) rs797045581
NM_001456.3(FLNA):c.6701G>A (p.Arg2234Gln) rs781984274
NM_001456.3(FLNA):c.6704C>G (p.Ala2235Gly) rs953454766
NM_001456.3(FLNA):c.6752T>C (p.Phe2251Ser)
NM_001456.3(FLNA):c.6839G>A (p.Arg2280His) rs782275601
NM_001456.3(FLNA):c.6851C>T (p.Ser2284Phe) rs1557175878
NM_001456.3(FLNA):c.6949G>A (p.Val2317Met) rs1557175818
NM_001456.3(FLNA):c.7019A>G (p.Asn2340Ser) rs1557175657
NM_001456.3(FLNA):c.7031C>T (p.Ser2344Phe) rs1557175646
NM_001456.3(FLNA):c.7035T>G (p.Phe2345Leu) rs864622713
NM_001456.3(FLNA):c.7133A>G (p.Asp2378Gly)
NM_001456.3(FLNA):c.7143T>G (p.Ala2381=) rs782541746
NM_001456.3(FLNA):c.7148G>A (p.Arg2383His) rs727503930
NM_001456.3(FLNA):c.714C>G (p.Ile238Met)
NM_001456.3(FLNA):c.7171G>A (p.Val2391Ile) rs878854463
NM_001456.3(FLNA):c.7181T>C (p.Ile2394Thr) rs202152952
NM_001456.3(FLNA):c.7186G>A (p.Val2396Ile)
NM_001456.3(FLNA):c.7235T>C (p.Val2412Ala) rs782289803
NM_001456.3(FLNA):c.7364C>T (p.Ser2455Leu)
NM_001456.3(FLNA):c.7365G>A (p.Ser2455=) rs373103712
NM_001456.3(FLNA):c.7370C>T (p.Thr2457Ile) rs878854464
NM_001456.3(FLNA):c.7439C>A (p.Thr2480Asn) rs909387820
NM_001456.3(FLNA):c.7520A>G (p.Lys2507Arg) rs782442409
NM_001456.3(FLNA):c.7531C>T (p.Pro2511Ser) rs782383611
NM_001456.3(FLNA):c.7604G>A (p.Cys2535Tyr) rs201762017
NM_001456.3(FLNA):c.7631C>T (p.Pro2544Leu) rs1334045176
NM_001456.3(FLNA):c.7636C>A (p.Pro2546Thr) rs1060500720
NM_001456.3(FLNA):c.7714G>A (p.Val2572Ile) rs377518545
NM_001456.3(FLNA):c.7755_7756insTTCGGGG (p.Val2586Phefs) rs1557175195
NM_001456.3(FLNA):c.7778G>A (p.Cys2593Tyr) rs1060500721
NM_001456.3(FLNA):c.7793_7796delTGAA (p.Val2598Glyfs) rs1557175175
NM_001456.3(FLNA):c.77C>T (p.Ala26Val)
NM_001456.3(FLNA):c.7876G>C (p.Asp2626His) rs782341270
NM_001456.3(FLNA):c.7895G>T (p.Ser2632Ile) rs1557175110
NM_001456.3(FLNA):c.7903C>T (p.Arg2635Cys) rs200836471
NM_001456.3(FLNA):c.7908_7910delTGT (p.Val2638del) rs1060500715
NM_001456.3(FLNA):c.826C>T (p.Arg276Trp)
NM_001456.3(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001456.3(FLNA):c.902G>T (p.Arg301Leu) rs371600068
NM_001456.3(FLNA):c.959T>G (p.Val320Gly)
NM_001931.4(DLAT):c.*1318A>G rs757760280
NM_001931.4(DLAT):c.*1375T>C rs144371275
NM_001931.4(DLAT):c.*1595G>A rs184244244
NM_001931.4(DLAT):c.*168G>A rs77304693
NM_001931.4(DLAT):c.*1704A>G rs886047698
NM_001931.4(DLAT):c.*220T>C rs886047695
NM_001931.4(DLAT):c.*243T>C rs189254124
NM_001931.4(DLAT):c.*246A>G rs886047696
NM_001931.4(DLAT):c.*622C>A rs139429714
NM_001931.4(DLAT):c.*920A>G rs116895022
NM_001931.4(DLAT):c.*981G>A rs886047697
NM_001931.4(DLAT):c.-137G>A rs886047692
NM_001931.4(DLAT):c.-203C>T rs781987834
NM_001931.4(DLAT):c.-212C>G rs587656558
NM_001931.4(DLAT):c.-222C>T rs587750751
NM_001931.4(DLAT):c.-338T>C rs587698124
NM_001931.4(DLAT):c.-383T>A rs886047691
NM_001931.4(DLAT):c.-471C>T rs886047690
NM_001931.4(DLAT):c.-500C>T rs886047689
NM_001931.4(DLAT):c.-572G>A rs183456915
NM_001931.4(DLAT):c.-590G>A rs587721916
NM_001931.4(DLAT):c.-647C>A rs190887558
NM_001931.4(DLAT):c.-90G>C rs587665696
NM_001931.4(DLAT):c.1142A>G (p.Asp381Gly) rs144235197
NM_001931.4(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.4(DLAT):c.1290+5G>A rs886047694
NM_001931.4(DLAT):c.1399-13C>T rs374698306
NM_001931.4(DLAT):c.1692G>A (p.Thr564=) rs185907405
NM_001931.4(DLAT):c.1735A>G (p.Ile579Val) rs371341957
NM_001931.4(DLAT):c.210G>C (p.Arg70=) rs782739576
NM_001931.4(DLAT):c.318C>A (p.Gly106=) rs201070254
NM_001931.4(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.4(DLAT):c.396dup (p.Ala133Serfs)
NM_001931.4(DLAT):c.402T>C (p.Thr134=) rs886047693
NM_001931.4(DLAT):c.412G>T (p.Glu138Ter)
NM_001931.4(DLAT):c.506+11C>T rs77846695
NM_001931.4(DLAT):c.506+12G>A rs372355218
NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.4(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.4(DLAT):c.606G>A (p.Ser202=) rs148153443
NM_001931.4(DLAT):c.828G>T (p.Leu276=) rs199835215
NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001931.4(DLAT):c.974C>T (p.Pro325Leu) rs782527135
NM_001931.4(DLAT):c.991C>G (p.Pro331Ala) rs78320677
NM_002025.3(AFF2):c.1830G>C (p.Leu610Phe) rs200450195
NM_002294.2(LAMP2):c.*1191A>T rs1004327482
NM_002294.2(LAMP2):c.*1356C>G rs188897063
NM_002294.2(LAMP2):c.*1632A>G rs755434692
NM_002294.2(LAMP2):c.*1672C>T rs1024440041
NM_002294.2(LAMP2):c.*2005C>G rs200014321
NM_002294.2(LAMP2):c.*2148A>G rs756504749
NM_002294.2(LAMP2):c.*2160_*2161dupAT rs753399289
NM_002294.2(LAMP2):c.*2183T>C rs765214315
NM_002294.2(LAMP2):c.*2524T>C rs150119198
NM_002294.2(LAMP2):c.*2538A>C rs1057515739
NM_002294.2(LAMP2):c.*2736T>A rs1057515738
NM_002294.2(LAMP2):c.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
NM_002294.2(LAMP2):c.*33A>G rs745798436
NM_002294.2(LAMP2):c.*3677C>A rs1057515737
NM_002294.2(LAMP2):c.*3687T>C rs185627568
NM_002294.2(LAMP2):c.*3689T>C rs975386272
NM_002294.2(LAMP2):c.*4763A>T rs761928368
NM_002294.2(LAMP2):c.*477T>C rs750939378
NM_002294.2(LAMP2):c.*4858A>G rs943561186
NM_002294.2(LAMP2):c.*4961A>G rs765371462
NM_002294.2(LAMP2):c.*4963delG rs754879365
NM_002294.2(LAMP2):c.*5172A>G rs778592348
NM_002294.2(LAMP2):c.*586A>G rs41312757
NM_002294.2(LAMP2):c.*653A>G rs1057515744
NM_002294.2(LAMP2):c.*692G>A rs1057515743
NM_002294.2(LAMP2):c.*721A>C rs887326511
NM_002294.2(LAMP2):c.*853G>A rs763861761
NM_002294.2(LAMP2):c.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-168dupC rs760941179
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_002294.2(LAMP2):c.1093+2544A>G rs777128122
NM_002294.2(LAMP2):c.1126C>A (p.Leu376Ile)
NM_002294.2(LAMP2):c.1140G>A (p.Ala380=) rs1029569080
NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.2(LAMP2):c.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_002294.2(LAMP2):c.263T>C (p.Ile88Thr)
NM_002294.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.443A>G (p.Asn148Ser)
NM_002294.2(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_002294.2(LAMP2):c.581C>A (p.Thr194Asn)
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_002294.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_002294.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_002294.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_002294.2(LAMP2):c.815T>G (p.Leu272Arg)
NM_002294.2(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.2(LAMP2):c.980G>T (p.Ser327Ile)
NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_002488.4(NDUFA2):c.-145T>A rs886060017
NM_002488.4(NDUFA2):c.-50G>A rs143857164
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.4(NDUFA2):c.-53A>G rs747127939
NM_002488.4(NDUFA2):c.-63G>A rs748460855
NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) rs200255683
NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416
NM_002495.3(NDUFS4):c.*79A>G rs886060699
NM_002495.3(NDUFS4):c.-22C>A rs144843461
NM_002495.3(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.3(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.3(NDUFS4):c.178-4G>C rs200384843
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT rs375549253
NM_002495.3(NDUFS4):c.355G>C (p.Asp119His)
NM_002495.3(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) rs1425486695
NM_002496.3(NDUFS8):c.*26T>G rs886048592
NM_002496.3(NDUFS8):c.*40A>G rs61329983
NM_002496.3(NDUFS8):c.*44C>T rs201815115
NM_002496.3(NDUFS8):c.-76C>T rs544094420
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.3(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259
NM_002496.3(NDUFS8):c.199+5G>A rs373522607
NM_002496.3(NDUFS8):c.200-14C>T rs373128833
NM_002496.3(NDUFS8):c.299C>T (p.Ala100Val) rs748754134
NM_002496.3(NDUFS8):c.459C>T (p.Cys153=) rs149201273
NM_002496.3(NDUFS8):c.501+12C>G rs372004236
NM_002496.3(NDUFS8):c.502-10C>T rs369961682
NM_002496.3(NDUFS8):c.502-13C>T rs199793417
NM_002496.3(NDUFS8):c.597C>T (p.Ile199=) rs1804688
NM_002496.3(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610
NM_002496.3(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258
NM_002547.2(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794
NM_002547.2(OPHN1):c.2159-4C>T rs587784233
NM_002547.2(OPHN1):c.215T>C (p.Ile72Thr) rs763066236
NM_002547.2(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961
NM_002547.2(OPHN1):c.702+11A>C rs375325266
NM_002764.3(PRPS1):c.*159G>A rs747334780
NM_002764.3(PRPS1):c.*166G>A rs371265973
NM_002764.3(PRPS1):c.*389G>C rs5962870
NM_002764.3(PRPS1):c.*538G>C rs1057515727
NM_002764.3(PRPS1):c.*538G>T rs1057515727
NM_002764.3(PRPS1):c.*762G>T rs768310830
NM_002764.3(PRPS1):c.*88C>T rs1057515726
NM_002764.3(PRPS1):c.*938dupA rs1057515728
NM_003159.2(CDKL5):c.-189C>T rs786204994
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.1116T>A (p.Ala372=)
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1198A>C (p.Asn400His)
NM_003159.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_003159.2(CDKL5):c.1286C>T (p.Pro429Leu)
NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_003159.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_003159.2(CDKL5):c.1891A>G (p.Ile631Val)
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_003159.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_003159.2(CDKL5):c.2502G>T (p.Gln834His)
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.2682_2683insGGAA (p.Pro895Glyfs)
NM_003159.2(CDKL5):c.26T>C (p.Val9Ala)
NM_003159.2(CDKL5):c.2714-47C>T rs786204995
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) rs369009993
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.2(CDKL5):c.283-13A>G rs587783404
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) rs866859766
NM_003159.2(CDKL5):c.409A>G (p.Lys137Glu)
NM_003159.2(CDKL5):c.679_691delCTAGGACCACTTCinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_003159.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_003159.2(CDKL5):c.818T>C (p.Leu273Pro)
NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_003159.2(CDKL5):c.934A>G (p.Lys312Glu)
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003159.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_003413.3(ZIC3):c.*1171_*1173delTTT rs1057515786
NM_003413.3(ZIC3):c.*1237A>T rs772508899
NM_003413.3(ZIC3):c.*1715A>G rs1057515787
NM_003413.3(ZIC3):c.*798_*802delTTTGT rs899320157
NM_003413.3(ZIC3):c.-479C>T rs1022475218
NM_003477.2(PDHX):c.*114A>G rs76663700
NM_003477.2(PDHX):c.*259G>T rs771515806
NM_003477.2(PDHX):c.*27A>C rs74524673
NM_003477.2(PDHX):c.*331G>C rs555691861
NM_003477.2(PDHX):c.*650G>A rs886048249
NM_003477.2(PDHX):c.*743G>A rs577162977
NM_003477.2(PDHX):c.*763G>A rs886048250
NM_003477.2(PDHX):c.-155G>A rs886048246
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.2(PDHX):c.-271G>T rs780153979
NM_003477.2(PDHX):c.-354C>T rs761199870
NM_003477.2(PDHX):c.-358G>A rs886048245
NM_003477.2(PDHX):c.-371G>A rs774565620
NM_003477.2(PDHX):c.-7C>T rs751680964
NM_003477.2(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003477.2(PDHX):c.1331G>A (p.Arg444Lys) rs34398018
NM_003477.2(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.2(PDHX):c.161-6T>C rs200438675
NM_003477.2(PDHX):c.317A>G (p.Asp106Gly) rs146456454
NM_003477.2(PDHX):c.403G>T (p.Gly135Ter)
NM_003477.2(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.2(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.2(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.2(PDHX):c.511G>A (p.Val171Ile) rs142256229
NM_003477.2(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_003477.2(PDHX):c.542+10T>C rs368960575
NM_003477.2(PDHX):c.577G>C (p.Glu193Gln) rs149337104
NM_003477.2(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.2(PDHX):c.589C>A (p.Leu197Met) rs139052284
NM_003477.2(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.2(PDHX):c.749C>T (p.Thr250Ile) rs146876119
NM_003477.2(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.2(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003588.3(CUL4B):c.1008_1010delTAT (p.Ile337del) rs1556214312
NM_003588.3(CUL4B):c.1160A>G (p.Gln387Arg) rs1556213268
NM_003588.3(CUL4B):c.117A>T (p.Arg39Ser) rs757541076
NM_003588.3(CUL4B):c.193A>G (p.Ser65Gly)
NM_003588.3(CUL4B):c.2577G>C (p.Lys859Asn) rs1556181426
NM_003588.3(CUL4B):c.348G>T (p.Gln116His) rs755306871
NM_003588.3(CUL4B):c.373C>G (p.Leu125Val) rs760294805
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs) rs749448671
NM_003611.2(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.2(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.2(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.2(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.2(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.2(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.2(OFD1):c.2177G>A (p.Arg726His)
NM_003611.2(OFD1):c.2197C>T (p.Arg733Cys)
NM_003611.2(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.2(OFD1):c.2482T>G (p.Phe828Val)
NM_003611.2(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.2(OFD1):c.2719A>G (p.Arg907Gly)
NM_003611.2(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.2(OFD1):c.324G>A (p.Met108Ile)
NM_003611.2(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.2(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003611.2(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003688.3(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_003688.3(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_003688.3(CASK):c.2427G>A (p.Ala809=) rs141158465
NM_003688.3(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_004187.3(KDM5C):c.2114G>A (p.Arg705His)
NM_004208.3(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.3(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) rs1057519032
NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser)
NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544
NM_004493.2(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_004493.2(HSD17B10):c.253G>A (p.Val85Met)
NM_004493.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.3(NDUFA10):c.*1011A>G rs575477219
NM_004544.3(NDUFA10):c.*105G>A rs886055825
NM_004544.3(NDUFA10):c.*1129G>A rs886055822
NM_004544.3(NDUFA10):c.*1212T>C rs886055821
NM_004544.3(NDUFA10):c.*1214C>T rs546735567
NM_004544.3(NDUFA10):c.*1262C>T rs759194775
NM_004544.3(NDUFA10):c.*1884G>C rs886055820
NM_004544.3(NDUFA10):c.*1894_*1914del21insGGG rs886055819
NM_004544.3(NDUFA10):c.*1915G>A rs144590599
NM_004544.3(NDUFA10):c.*2042A>C rs886055818
NM_004544.3(NDUFA10):c.*2111G>A rs752139055
NM_004544.3(NDUFA10):c.*2149C>T rs570872300
NM_004544.3(NDUFA10):c.*2192T>A rs886055817
NM_004544.3(NDUFA10):c.*2297T>G rs773090030
NM_004544.3(NDUFA10):c.*2397A>G rs886055816
NM_004544.3(NDUFA10):c.*2495C>T rs78395168
NM_004544.3(NDUFA10):c.*2649G>A rs886055815
NM_004544.3(NDUFA10):c.*2685C>A rs114807372
NM_004544.3(NDUFA10):c.*2997G>A rs886055814
NM_004544.3(NDUFA10):c.*3067C>T rs564992184
NM_004544.3(NDUFA10):c.*3075T>G rs7588974
NM_004544.3(NDUFA10):c.*3098A>T rs886055813
NM_004544.3(NDUFA10):c.*3113G>A rs886055812
NM_004544.3(NDUFA10):c.*3141C>T rs144864637
NM_004544.3(NDUFA10):c.*3205G>A rs886055811
NM_004544.3(NDUFA10):c.*3349G>A rs77216981
NM_004544.3(NDUFA10):c.*3408T>C rs886055810
NM_004544.3(NDUFA10):c.*3557G>A rs149933652
NM_004544.3(NDUFA10):c.*361A>G rs778261754
NM_004544.3(NDUFA10):c.*389C>T rs539829771
NM_004544.3(NDUFA10):c.*412A>G rs546052985
NM_004544.3(NDUFA10):c.*489A>G rs886055824
NM_004544.3(NDUFA10):c.*546G>A rs192485848
NM_004544.3(NDUFA10):c.*647C>T rs116254382
NM_004544.3(NDUFA10):c.*740C>T rs886055823
NM_004544.3(NDUFA10):c.*925C>G rs149563558
NM_004544.3(NDUFA10):c.-36C>T rs886055826
NM_004544.3(NDUFA10):c.-87A>C rs886055827
NM_004544.3(NDUFA10):c.-92C>T rs559797625
NM_004544.3(NDUFA10):c.-93G>T rs577432343
NM_004544.3(NDUFA10):c.1000-3C>G rs199648872
NM_004544.3(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.3(NDUFA10):c.548-9A>G rs147876332
NM_004544.3(NDUFA10):c.549T>C (p.Cys183=) rs149783296
NM_004544.3(NDUFA10):c.749+11C>T rs200760509
NM_004544.3(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820
NM_004550.4(NDUFS2):c.*102_*107dupGTGTGT rs10629771
NM_004550.4(NDUFS2):c.*106_*107delGT rs10629771
NM_004550.4(NDUFS2):c.*106_*107dupGT rs10629771
NM_004550.4(NDUFS2):c.*108A>T rs191955041
NM_004550.4(NDUFS2):c.*108_*109dupAT rs886045468
NM_004550.4(NDUFS2):c.*187G>A rs886045469
NM_004550.4(NDUFS2):c.*71_*76delGGCCTCinsTGCGTCTGTGTGTG rs886045465
NM_004550.4(NDUFS2):c.-156G>A rs886045457
NM_004550.4(NDUFS2):c.-159C>A rs886045456
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.-218G>A rs563669084
NM_004550.4(NDUFS2):c.-28C>T rs886045458
NM_004550.4(NDUFS2):c.-298C>G rs41270845
NM_004550.4(NDUFS2):c.-346G>A rs189165754
NM_004550.4(NDUFS2):c.-388G>A rs3813623
NM_004550.4(NDUFS2):c.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1212G>A (p.Lys404=) rs145959971
NM_004550.4(NDUFS2):c.1213-9delC rs750838845
NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) rs886045464
NM_004550.4(NDUFS2):c.1354+10C>A rs201275792
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) rs569128565
NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) rs754241926
NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) rs140324736
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dupCGGC rs776704187
NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_004550.4(NDUFS2):c.95+14C>T rs751472475
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_004550.4:c.495_496delTC
NM_004551.2(NDUFS3):c.-30C>T rs375483884
NM_004551.2(NDUFS3):c.-41T>C rs750965789
NM_004551.2(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.2(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_004551.2(NDUFS3):c.381+5G>T rs886048392
NM_004551.2(NDUFS3):c.381+6T>C rs377579231
NM_004551.2(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.2(NDUFS3):c.628-7C>T rs11039306
NM_004551.2(NDUFS3):c.657G>A (p.Val219=) rs377323760
NM_004551.2(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004551.2(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.2(NDUFS3):c.91T>C (p.Leu31=) rs770306617
NM_004553.4(NDUFS6):c.*15C>T rs200445799
NM_004553.4(NDUFS6):c.*27A>G rs370587409
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.4(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274
NM_004553.4(NDUFS6):c.198C>T (p.Asn66=) rs140887831
NM_004553.4(NDUFS6):c.24C>T (p.Cys8=) rs886060511
NM_004553.4(NDUFS6):c.27G>C (p.Arg9=) rs886060512
NM_004553.4(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_004586.2(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103
NM_004586.2(RPS6KA3):c.1603-5A>G
NM_004586.2(RPS6KA3):c.1877C>T (p.Pro626Leu) rs1555926370
NM_004586.2(RPS6KA3):c.295A>G (p.Met99Val)
NM_004586.2(RPS6KA3):c.707C>T (p.Ala236Val)
NM_004586.2(RPS6KA3):c.754T>C (p.Trp252Arg)
NM_004586.2(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.2(RPS6KA3):c.894_902delTTTACGAAT (p.Arg300_Leu302del) rs1555933769
NM_004606.4(TAF1):c.2831T>C (p.Ile944Thr)
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.*122delT rs267608342
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*92C>G rs62621672
NM_004992.3(MECP2):c.-143_-138delCGCCGC rs398123566
NM_004992.3(MECP2):c.-143_-138dup rs398123566
NM_004992.3(MECP2):c.-15C>T rs267608324
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg) rs267608560
NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly) rs61752361
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp) rs61752361
NM_004992.3(MECP2):c.1043_1173del131insTG (p.Glu348_Pro391delinsVal) rs1557135603
NM_004992.3(MECP2):c.1048_1095del48 (p.Ser350_Glu365del) rs267608562
NM_004992.3(MECP2):c.1061_1156del96 (p.Arg354_Pro385del) rs1557135746
NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg) rs267608563
NM_004992.3(MECP2):c.1093_1095delGAG (p.Glu365del) rs786205032
NM_004992.3(MECP2):c.1104_1106delCCA (p.His372del) rs61752381
NM_004992.3(MECP2):c.1117_1203del87 (p.Ser373_Ser401del) rs1557135279
NM_004992.3(MECP2):c.1123_1191del69 (p.Ser375_Glu397del) rs1557135441
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) rs201314910
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1148T>C (p.Leu383Pro) rs1060499622
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1151_1183del33 (p.Pro384_Ser395delinsArg) rs267608575
NM_004992.3(MECP2):c.1153_1188del36 (p.Pro385_Ser396del) rs786205033
NM_004992.3(MECP2):c.1155_1208del54 (p.Leu386_Pro403del) rs1557135259
NM_004992.3(MECP2):c.1156_1197del42 (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1156_1200del45 (p.Leu386_Thr400del) rs267608581
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1160_1180del21 (p.Pro387_Glu394delinsGln) rs267608594
NM_004992.3(MECP2):c.1160_1200del41insAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) rs267608343
NM_004992.3(MECP2):c.1161_1400del240 (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1162_1191del30 (p.Pro388_Glu397del) rs63749034
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_1216del54 (p.Pro388_Pro405del) rs1557135234
NM_004992.3(MECP2):c.1164_1172del9 (p.Pro389_Pro391del) rs267608604
NM_004992.3(MECP2):c.1164_1208del45 (p.Pro389_Pro403del) rs267608605
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn) rs267608616
NM_004992.3(MECP2):c.1233_1243del11 (p.Ser411Argfs) rs786205036
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1340C>T (p.Ala447Val) rs61753978
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.1403_1408del6 (p.Arg468_Pro469del) rs267608632
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys) rs267608642
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) rs267608440
NM_004992.3(MECP2):c.257C>G (p.Ser86Cys) rs61754445
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.277C>T (p.Pro93Ser) rs61754447
NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr) rs61754448
NM_004992.3(MECP2):c.28G>C (p.Glu10Gln) rs61754421
NM_004992.3(MECP2):c.291C>A (p.Asp97Glu) rs61754449
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.299T>G (p.Leu100Arg) rs61754451
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.308G>A (p.Gly103Asp) rs267608450
NM_004992.3(MECP2):c.310T>C (p.Trp104Arg) rs267608451
NM_004992.3(MECP2):c.316C>G (p.Arg106Gly) rs28934907
NM_004992.3(MECP2):c.317G>T (p.Arg106Leu) rs61754457
NM_004992.3(MECP2):c.323T>A (p.Leu108His) rs61754458
NM_004992.3(MECP2):c.331A>G (p.Arg111Gly) rs61754459
NM_004992.3(MECP2):c.341G>C (p.Gly114Ala) rs61755760
NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp) rs267608454
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.372G>C (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.372G>T (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.383A>C (p.Gln128Pro) rs61748383
NM_004992.3(MECP2):c.386G>T (p.Gly129Val) rs61748384
NM_004992.3(MECP2):c.392C>A (p.Ala131Asp) rs267608470
NM_004992.3(MECP2):c.397C>G (p.Arg133Gly) rs28934904
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.398G>T (p.Arg133Leu) rs61748389
NM_004992.3(MECP2):c.400T>C (p.Ser134Pro) rs267608471
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
NM_004992.3(MECP2):c.413T>C (p.Leu138Ser) rs267608475
NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys) rs61748395
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.463T>A (p.Phe155Ile) rs61748406
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) rs28934905
NM_004992.3(MECP2):c.467A>C (p.Asp156Ala) rs61748407
NM_004992.3(MECP2):c.467A>G (p.Asp156Gly) rs61748407
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.471C>G (p.Phe157Leu) rs267608484
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.481G>T (p.Gly161Trp) rs61748416
NM_004992.3(MECP2):c.482G>A (p.Gly161Glu) rs61748417
NM_004992.3(MECP2):c.482G>T (p.Gly161Val) rs61748417
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.629A>T (p.Lys210Ile) rs61749730
NM_004992.3(MECP2):c.635_655del21 (p.Val212_Lys219delinsGlu) rs267608509
NM_004992.3(MECP2):c.649C>T (p.Pro217Ser) rs786205894
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.836C>T (p.Ala279Val) rs61750249
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.871T>G (p.Ser291Ala) rs61751360
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.900_908del (p.Leu301_Ile303del) rs267608545
NM_004992.3(MECP2):c.904C>A (p.Pro302Thr) rs61751373
NM_004992.3(MECP2):c.904C>G (p.Pro302Ala) rs61751373
NM_004992.3(MECP2):c.904C>T (p.Pro302Ser) rs61751373
NM_004992.3(MECP2):c.905C>A (p.Pro302His) rs61749723
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.908T>G (p.Ile303Ser) rs267608549
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.910A>G (p.Lys304Glu) rs61751440
NM_004992.3(MECP2):c.913A>G (p.Lys305Glu) rs267608551
NM_004992.3(MECP2):c.914A>G (p.Lys305Arg) rs61751441
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.953A>C (p.Glu318Ala) rs61751448
NM_004992.3(MECP2):c.964C>G (p.Pro322Ala) rs61751449
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.982C>G (p.Leu328Val) rs267608556
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_005006.6(NDUFS1):c.*151T>C rs533179154
NM_005006.6(NDUFS1):c.*158T>C rs3770989
NM_005006.6(NDUFS1):c.*27C>T rs369746514
NM_005006.6(NDUFS1):c.*399G>A rs77000728
NM_005006.6(NDUFS1):c.*438C>T rs561980718
NM_005006.6(NDUFS1):c.*504G>A rs548641207
NM_005006.6(NDUFS1):c.*561T>C rs146538309
NM_005006.6(NDUFS1):c.*641A>G rs886055501
NM_005006.6(NDUFS1):c.*756A>T rs755460274
NM_005006.6(NDUFS1):c.*846dupT rs58253838
NM_005006.6(NDUFS1):c.*866A>C rs749790811
NM_005006.6(NDUFS1):c.*93dupA rs200446477
NM_005006.6(NDUFS1):c.*966A>G rs755776989
NM_005006.6(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915
NM_005006.6(NDUFS1):c.1249A>G (p.Arg417Gly)
NM_005006.6(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913
NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.6(NDUFS1):c.1393-7delT rs760292289
NM_005006.6(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316
NM_005006.6(NDUFS1):c.154-10_154-9delTT rs568965659
NM_005006.6(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964
NM_005006.6(NDUFS1):c.2129G>A (p.Cys710Tyr)
NM_005006.6(NDUFS1):c.262-15delT rs34184317
NM_005006.6(NDUFS1):c.262-15dupT rs34184317
NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502
NM_005006.6(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275
NM_005006.6(NDUFS1):c.421-7A>G rs192949406
NM_005006.6(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426
NM_005120.2(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.2(MED12):c.1039A>G (p.Ser347Gly) rs752300879
NM_005120.2(MED12):c.1264C>T (p.Arg422Trp) rs368913305
NM_005120.2(MED12):c.1619G>A (p.Arg540His)
NM_005120.2(MED12):c.1682C>T (p.Pro561Leu) rs766485358
NM_005120.2(MED12):c.1744+5G>A rs368353373
NM_005120.2(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.2(MED12):c.1963A>G (p.Ser655Gly)
NM_005120.2(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.2(MED12):c.2422+6T>G
NM_005120.2(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.2(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.2(MED12):c.3210-27C>T rs752463122
NM_005120.2(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.2(MED12):c.3691+4C>T rs373381746
NM_005120.2(MED12):c.3693G>T (p.Gly1231=)
NM_005120.2(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785
NM_005120.2(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168
NM_005120.2(MED12):c.4021C>T (p.Arg1341Trp) rs777250096
NM_005120.2(MED12):c.4028G>A (p.Arg1343His) rs201044355
NM_005120.2(MED12):c.4154C>T (p.Ala1385Val) rs771349148
NM_005120.2(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.2(MED12):c.4253+4G>A rs750162341
NM_005120.2(MED12):c.5192G>A (p.Arg1731Lys)
NM_005120.2(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.2(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.2(MED12):c.5585G>A (p.Arg1862His) rs773713291
NM_005120.2(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.2(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.2(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.2(MED12):c.6097A>G (p.Met2033Val) rs372606012
NM_005120.2(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.2(MED12):c.6177_6191del15 (p.Gln2072_Gln2076del) rs767827315
NM_005120.2(MED12):c.6195_6200delGCAGCA (p.Gln2075_Gln2076del)
NM_005120.2(MED12):c.6201_6224del24 (p.Gln2069_Gln2076del) rs773709991
NM_005120.2(MED12):c.6256_6258delCAG (p.Gln2086del) rs786200971
NM_005120.2(MED12):c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) rs786200971
NM_005120.2(MED12):c.6267+166G>A rs1247198443
NM_005120.2(MED12):c.628G>C (p.Ala210Pro)
NM_005120.2(MED12):c.6303_6308delGCAGCA (p.Gln2114_Gln2115del) rs766775649
NM_005120.2(MED12):c.6306_6308delGCA (p.Gln2115del)
NM_005120.2(MED12):c.6308_6309insGCA (p.Gln2115_His2116insGln) rs766775649
NM_005120.2(MED12):c.6308_6309insGCAGCA (p.Gln2115_His2116insGlnGln) rs766775649
NM_005120.2(MED12):c.6315_6320delACAGCA (p.Gln2114_Gln2115del) rs764789036
NM_005120.2(MED12):c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) rs727503869
NM_005120.2(MED12):c.6526C>T (p.Arg2176Cys) rs777818556
NM_005120.2:c.5020_5022del
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005249.4(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.4(FOXG1):c.1376C>G (p.Ser459Cys)
NM_005249.4(FOXG1):c.1397G>A (p.Gly466Glu)
NM_005249.4(FOXG1):c.153_161delCCACCACCA (p.His55_His57del) rs587783630
NM_005249.4(FOXG1):c.156_161delCCACCA (p.His56_His57del)
NM_005249.4(FOXG1):c.206C>A (p.Pro69Gln) rs727503933
NM_005249.4(FOXG1):c.209A>C (p.Gln70Pro) rs587783633
NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del) rs794726920
NM_005249.4(FOXG1):c.209_235del27 (p.Gln70_Pro78del) rs587783634
NM_005249.4(FOXG1):c.209_235dup27 (p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro) rs587783634
NM_005249.4(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.4(FOXG1):c.231_236dup (p.Pro80_Ala81insProPro) rs786200975
NM_005249.4(FOXG1):c.234_236dupGCC (p.Pro80_Ala81insPro) rs786200975
NM_005249.4(FOXG1):c.251C>G (p.Pro84Arg) rs866815665
NM_005249.4(FOXG1):c.256C>A (p.Gln86Lys) rs398124202
NM_005249.4(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245
NM_005249.4(FOXG1):c.275C>T (p.Ala92Val) rs1057520147
NM_005249.4(FOXG1):c.281A>C (p.Asp94Ala)
NM_005249.4(FOXG1):c.376G>A (p.Gly126Ser) rs796052455
NM_005249.4(FOXG1):c.432G>C (p.Glu144Asp) rs547825816
NM_005249.4(FOXG1):c.443G>A (p.Gly148Asp)
NM_005249.4(FOXG1):c.455G>C (p.Gly152Ala) rs796052460
NM_005249.4(FOXG1):c.456G>T (p.Gly152=) rs587783637
NM_005249.4(FOXG1):c.458G>T (p.Gly153Val) rs1555321286
NM_005249.4(FOXG1):c.463_465delGAG (p.Glu155del) rs1175471807
NM_005249.4(FOXG1):c.469_471delAAG (p.Lys157del) rs1424025007
NM_005249.4(FOXG1):c.554G>C (p.Ser185Thr)
NM_005249.4(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.4(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.4(FOXG1):c.655C>G (p.Arg219Gly) rs1555321323
NM_005249.4(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.4(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.4(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005391.4(PDK3):c.1087dup (p.Ser363Lysfs)
NM_005629.3(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.3(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.3(SLC6A8):c.1184T>C (p.Leu395Pro) rs1557045281
NM_005629.3(SLC6A8):c.1258G>A (p.Val420Ile)
NM_005629.3(SLC6A8):c.1302G>A (p.Pro434=)
NM_005629.3(SLC6A8):c.1768-8_1768-7delTC rs782682148
NM_005629.3(SLC6A8):c.1778A>G (p.His593Arg) rs782560726
NM_005629.3(SLC6A8):c.1790C>T (p.Pro597Leu) rs1060502811
NM_005629.3(SLC6A8):c.1794C>G (p.Ile598Met)
NM_005629.3(SLC6A8):c.1798G>A (p.Gly600Ser) rs1557045828
NM_005629.3(SLC6A8):c.1810T>A (p.Leu604Met)
NM_005629.3(SLC6A8):c.1888G>A (p.Val630Met)
NM_005629.3(SLC6A8):c.1901T>C (p.Val634Ala)
NM_005629.3(SLC6A8):c.26G>T (p.Gly9Val)
NM_005629.3(SLC6A8):c.283G>A (p.Val95Ile) rs782040427
NM_005629.3(SLC6A8):c.340C>A (p.Gln114Lys)
NM_005629.3(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775
NM_005629.3(SLC6A8):c.92C>T (p.Pro31Leu)
NM_005710.2(PQBP1):c.-214A>G rs1006576758
NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630
NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp)
NM_005765.2(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841
NM_005765.2(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.2(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_005765.2(ATP6AP2):c.596G>A (p.Arg199His) rs751433380
NM_005765.2(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.2(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.2(ATP6AP2):c.922A>C (p.Asn308His) rs756836341
NM_005765.2(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614
NM_006013.4(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006359.2(SLC9A6):c.1376G>A (p.Gly459Asp)
NM_006359.2(SLC9A6):c.1488C>T (p.Gly496=) rs782370742
NM_006359.2(SLC9A6):c.1843A>G (p.Ser615Gly) rs558960349
NM_006359.2(SLC9A6):c.269T>C (p.Leu90Pro) rs1556614843
NM_006359.2(SLC9A6):c.362A>G (p.His121Arg) rs1060502675
NM_006359.2(SLC9A6):c.485A>G (p.Tyr162Cys) rs1556616834
NM_006359.2(SLC9A6):c.619G>A (p.Val207Ile)
NM_006359.2(SLC9A6):c.8G>T (p.Arg3Leu)
NM_006359.2(SLC9A6):c.946G>A (p.Val316Met) rs1556618832
NM_006517.4(SLC16A2):c.-53A>C rs587784385
NM_006859.3(LIAS):c.1106_1110delCAAAA (p.Thr369Argfs)
NM_006859.3(LIAS):c.110A>T (p.Glu37Val) rs763606110
NM_006859.3(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.3(LIAS):c.122A>G (p.Asn41Ser) rs761295906
NM_006859.3(LIAS):c.140A>G (p.Asp47Gly)
NM_006859.3(LIAS):c.173C>T (p.Thr58Ile) rs141723499
NM_006859.3(LIAS):c.218G>C (p.Arg73Thr) rs1172950083
NM_006859.3(LIAS):c.244A>G (p.Thr82Ala)
NM_006859.3(LIAS):c.292C>T (p.Arg98Trp)
NM_006859.3(LIAS):c.29G>A (p.Arg10His) rs1370681479
NM_006859.3(LIAS):c.331T>A (p.Cys111Ser) rs747124026
NM_006859.3(LIAS):c.35T>A (p.Leu12Gln)
NM_006859.3(LIAS):c.37G>A (p.Gly13Arg)
NM_006859.3(LIAS):c.393+4G>A rs368453789
NM_006859.3(LIAS):c.403G>C (p.Asp135His)
NM_006859.3(LIAS):c.473G>C (p.Ser158Thr) rs751421705
NM_006859.3(LIAS):c.550+4A>G
NM_006859.3(LIAS):c.553_561delATGCCTGAT (p.Met185_Asp187del) rs776064587
NM_006859.3(LIAS):c.563G>C (p.Gly188Ala)
NM_006859.3(LIAS):c.592T>A (p.Ser198Thr) rs1553934367
NM_006859.3(LIAS):c.643G>A (p.Asp215Asn)
NM_006859.3(LIAS):c.650G>A (p.Arg217Gln)
NM_006859.3(LIAS):c.657T>A (p.Asp219Glu)
NM_006859.3(LIAS):c.683T>C (p.Leu228Pro) rs1553934545
NM_006859.3(LIAS):c.725C>T (p.Pro242Leu)
NM_006859.3(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006859.3(LIAS):c.751C>T (p.Pro251Ser)
NM_006859.3(LIAS):c.797A>G (p.Lys266Arg)
NM_006859.3(LIAS):c.80C>T (p.Pro27Leu)
NM_006859.3(LIAS):c.890G>A (p.Arg297His)
NM_006859.3(LIAS):c.944G>A (p.Arg315His) rs145535775
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) rs1556861783
NM_007075.3(WDR45):c.161_163delTGG (p.Val54del) rs864309661
NM_007103.3(NDUFV1):c.*14C>T rs886048590
NM_007103.3(NDUFV1):c.*79C>T rs76839099
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-34T>A rs886048586
NM_007103.3(NDUFV1):c.-45T>G rs373940385
NM_007103.3(NDUFV1):c.1017C>T (p.Phe339=) rs371426372
NM_007103.3(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660
NM_007103.3(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.3(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500
NM_007103.3(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800
NM_007103.3(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639
NM_007103.3(NDUFV1):c.1309-9C>T rs374581520
NM_007103.3(NDUFV1):c.1353G>T (p.Gln451His) rs768582587
NM_007103.3(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_007103.3(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.3(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.3(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.3(NDUFV1):c.326+12G>A rs184136353
NM_007103.3(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.3(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.3(NDUFV1):c.414G>T (p.Leu138=) rs148461900
NM_007103.3(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350
NM_007103.3(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121
NM_007103.3(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022
NM_007103.3(NDUFV1):c.606G>A (p.Gly202=) rs886048589
NM_007103.3(NDUFV1):c.72+15G>T rs187400726
NM_007103.3(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007103.3(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889
NM_007103.3(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.3(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_007103.3(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007325.4(GRIA3):c.2408G>A (p.Gly803Glu)
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu)
NM_014049.4(ACAD9):c.959-3C>G rs1553731751
NM_014165.3(NDUFAF4):c.*1008T>C rs886061827
NM_014165.3(NDUFAF4):c.*1053A>G rs74905648
NM_014165.3(NDUFAF4):c.*1062T>G rs76370016
NM_014165.3(NDUFAF4):c.*1121A>G rs886061826
NM_014165.3(NDUFAF4):c.*1154A>G rs886061825
NM_014165.3(NDUFAF4):c.*1203A>G rs190331411
NM_014165.3(NDUFAF4):c.*1362C>T rs545168471
NM_014165.3(NDUFAF4):c.*1363G>A rs184678986
NM_014165.3(NDUFAF4):c.*1375G>T rs138003168
NM_014165.3(NDUFAF4):c.*1447T>C rs116939090
NM_014165.3(NDUFAF4):c.*1481T>C rs772264922
NM_014165.3(NDUFAF4):c.*1487A>G rs748437516
NM_014165.3(NDUFAF4):c.*1642T>G rs150444958
NM_014165.3(NDUFAF4):c.*1671T>C rs182040819
NM_014165.3(NDUFAF4):c.*1727T>C rs886061824
NM_014165.3(NDUFAF4):c.*1748T>C rs886061823
NM_014165.3(NDUFAF4):c.*289C>G rs143895125
NM_014165.3(NDUFAF4):c.*294T>G rs555318888
NM_014165.3(NDUFAF4):c.*350A>C rs41288598
NM_014165.3(NDUFAF4):c.*387C>T rs41288596
NM_014165.3(NDUFAF4):c.*459A>G rs560563894
NM_014165.3(NDUFAF4):c.*612A>G rs886061828
NM_014165.3(NDUFAF4):c.*690G>A rs181915821
NM_014165.3(NDUFAF4):c.*986A>C rs192839240
NM_014165.3(NDUFAF4):c.-24C>G rs886061830
NM_014165.3(NDUFAF4):c.-32delG rs886061831
NM_014165.3(NDUFAF4):c.-33G>T rs886061832
NM_014165.3(NDUFAF4):c.-40C>T rs749427985
NM_014165.3(NDUFAF4):c.-49C>T rs372635399
NM_014165.3(NDUFAF4):c.184C>T (p.Leu62=) rs78567928
NM_014165.3(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.3(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378
NM_014324.5(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014467.2(SRPX2):c.1011A>G (p.Gln337=)
NM_014467.2(SRPX2):c.1028G>A (p.Arg343Gln) rs1060502322
NM_014467.2(SRPX2):c.1144G>A (p.Val382Met) rs148241932
NM_014467.2(SRPX2):c.1199A>G (p.Asn400Ser) rs141292909
NM_014467.2(SRPX2):c.1238G>A (p.Arg413His)
NM_014467.2(SRPX2):c.1289G>A (p.Arg430His) rs183378773
NM_014467.2(SRPX2):c.1313A>T (p.Glu438Val)
NM_014467.2(SRPX2):c.160C>A (p.Arg54=) rs772122754
NM_014467.2(SRPX2):c.161G>A (p.Arg54Gln) rs761225832
NM_014467.2(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844
NM_014467.2(SRPX2):c.17C>T (p.Thr6Ile) rs1556010625
NM_014467.2(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672
NM_014467.2(SRPX2):c.329G>A (p.Arg110His) rs1176341753
NM_014467.2(SRPX2):c.646G>A (p.Gly216Ser) rs758845090
NM_014467.2(SRPX2):c.742T>C (p.Tyr248His) rs1208754092
NM_014467.2(SRPX2):c.809C>T (p.Pro270Leu) rs148735447
NM_014467.2(SRPX2):c.920A>G (p.Gln307Arg) rs147757229
NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014467.2(SRPX2):c.981C>G (p.Asn327Lys) rs370033099
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu)
NM_015185.2(ARHGEF9):c.1039A>C (p.Met347Leu) rs782248986
NM_015185.2(ARHGEF9):c.1273A>G (p.Lys425Glu)
NM_015185.2(ARHGEF9):c.1381G>T (p.Ala461Ser)
NM_015185.2(ARHGEF9):c.1399T>C (p.Ser467Pro) rs1556301359
NM_015185.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
NM_015185.2(ARHGEF9):c.1459G>A (p.Ala487Thr) rs1556301016
NM_015185.2(ARHGEF9):c.1515G>A (p.Trp505Ter) rs1556300769
NM_015185.2(ARHGEF9):c.233A>T (p.Asp78Val)
NM_015185.2(ARHGEF9):c.421A>G (p.Ser141Gly)
NM_015185.2(ARHGEF9):c.430C>A (p.Gln144Lys)
NM_015185.2(ARHGEF9):c.557A>G (p.Glu186Gly) rs1556388997
NM_015185.2(ARHGEF9):c.561C>T (p.His187=) rs150129110
NM_015185.2(ARHGEF9):c.646C>T (p.Arg216Cys)
NM_015884.3(MBTPS2):c.529A>C (p.Ile177Leu) rs766760741
NM_016013.3(NDUFAF1):c.-137C>T rs369431865
NM_016013.3(NDUFAF1):c.-140C>T rs886051144
NM_016013.3(NDUFAF1):c.-180C>T rs886051145
NM_016013.3(NDUFAF1):c.-205G>C rs190265352
NM_016013.3(NDUFAF1):c.-293C>T rs760649120
NM_016013.3(NDUFAF1):c.-312T>G rs886051146
NM_016013.3(NDUFAF1):c.-352C>T rs532681188
NM_016013.3(NDUFAF1):c.-379C>T rs146883891
NM_016013.3(NDUFAF1):c.-6T>G rs180730324
NM_016013.3(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.3(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131
NM_016013.3(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.3(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.3(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.3(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.3(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.3(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe)
NM_016032.3(ZDHHC9):c.1001C>T (p.Ser334Leu)
NM_016032.3(ZDHHC9):c.1013C>T (p.Pro338Leu)
NM_016032.3(ZDHHC9):c.1064_1065insCCCACAGCC (p.Gln357_Glu358insProProGln) rs1413822794
NM_016032.3(ZDHHC9):c.332C>T (p.Ala111Val) rs1556006489
NM_016032.3(ZDHHC9):c.397A>C (p.Asn133His) rs1556006445
NM_016032.3(ZDHHC9):c.598G>A (p.Ala200Thr)
NM_016032.3(ZDHHC9):c.777C>T (p.Asp259=) rs751918374
NM_016032.3(ZDHHC9):c.881+3G>A rs775743190
NM_016032.3(ZDHHC9):c.929G>A (p.Arg310Gln)
NM_017547.3(FOXRED1):c.*159C>T rs570233921
NM_017547.3(FOXRED1):c.*190T>C rs77902129
NM_017547.3(FOXRED1):c.*392G>A rs886047983
NM_017547.3(FOXRED1):c.*432T>G rs185024577
NM_017547.3(FOXRED1):c.*85T>C rs372575072
NM_017547.3(FOXRED1):c.-163G>C rs552937899
NM_017547.3(FOXRED1):c.-31A>G rs368307265
NM_017547.3(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.3(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459
NM_017547.3(FOXRED1):c.1138C>G (p.His380Asp) rs751634994
NM_017547.3(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.3(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928
NM_017547.3(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700
NM_017547.3(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044
NM_017547.3(FOXRED1):c.192G>A (p.Ser64=) rs749675822
NM_017547.3(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112
NM_017547.3(FOXRED1):c.305C>T (p.Thr102Met) rs77785510
NM_017547.3(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069
NM_017547.3(FOXRED1):c.418-1G>T
NM_017547.3(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017547.3(FOXRED1):c.435C>T (p.Val145=) rs147235743
NM_017547.3(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.3(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046
NM_017547.3(FOXRED1):c.612_615dupAGTG (p.Ala206Serfs) rs398124308
NM_017547.3(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152
NM_017547.3(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680
NM_017547.3(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281
NM_017547.3(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.3(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548
NM_017547.3(FOXRED1):c.887C>T (p.Ala296Val) rs886047982
NM_017547.3(FOXRED1):c.921G>A (p.Gly307=) rs777315728
NM_017547.3(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712
NM_017547.3(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_017745.5(BCOR):c.-292-?_*863+?dup
NM_017745.5(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_017745.5(BCOR):c.1391C>T (p.Thr464Met)
NM_017745.5(BCOR):c.1780G>A (p.Val594Ile) rs764515953
NM_017745.5(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012
NM_017745.5(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_017745.5(BCOR):c.223A>T (p.Thr75Ser)
NM_017745.5(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_017745.5(BCOR):c.2560G>A (p.Ala854Thr)
NM_017745.5(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_017745.5(BCOR):c.3339C>T (p.Ser1113=) rs1226506629
NM_017745.5(BCOR):c.4217C>T (p.Pro1406Leu)
NM_017745.5(BCOR):c.479T>C (p.Val160Ala) rs1459702445
NM_017745.5(BCOR):c.5132A>C (p.His1711Pro) rs587778100
NM_017745.5(BCOR):c.520G>A (p.Asp174Asn)
NM_017745.5(BCOR):c.599C>T (p.Thr200Met)
NM_018444.3(PDP1):c.*1091A>C rs568829851
NM_018444.3(PDP1):c.*1113T>C rs537546709
NM_018444.3(PDP1):c.*1127T>C rs766520277
NM_018444.3(PDP1):c.*1324G>A rs774244422
NM_018444.3(PDP1):c.*1370A>G rs886063182
NM_018444.3(PDP1):c.*1409G>A rs757140568
NM_018444.3(PDP1):c.*1487A>T rs189435075
NM_018444.3(PDP1):c.*1564C>A rs111728711
NM_018444.3(PDP1):c.*1609A>G rs186669527
NM_018444.3(PDP1):c.*1612G>A rs886063183
NM_018444.3(PDP1):c.*1649_*1650insG rs886063184
NM_018444.3(PDP1):c.*1651T>G rs886063185
NM_018444.3(PDP1):c.*1661delT rs60316663
NM_018444.3(PDP1):c.*1664G>A rs558897089
NM_018444.3(PDP1):c.*1799G>C rs535028389
NM_018444.3(PDP1):c.*1807T>A rs77734416
NM_018444.3(PDP1):c.*1844A>C rs886063186
NM_018444.3(PDP1):c.*1957G>T rs886063187
NM_018444.3(PDP1):c.*1961G>C rs886063188
NM_018444.3(PDP1):c.*2133G>A rs886063189
NM_018444.3(PDP1):c.*2299A>G rs886063190
NM_018444.3(PDP1):c.*368C>G rs551728387
NM_018444.3(PDP1):c.*491T>G rs41272417
NM_018444.3(PDP1):c.*49C>A rs192535454
NM_018444.3(PDP1):c.*566T>C rs78884124
NM_018444.3(PDP1):c.*592A>G rs537935933
NM_018444.3(PDP1):c.*724delT rs886063179
NM_018444.3(PDP1):c.*743C>T rs886063180
NM_018444.3(PDP1):c.*886C>T rs547657737
NM_018444.3(PDP1):c.*901_*903delCTT rs756226872
NM_018444.3(PDP1):c.-142G>C rs764874879
NM_018444.3(PDP1):c.-67C>A rs372548037
NM_018444.3(PDP1):c.128G>C (p.Arg43Pro) rs201081450
NM_018444.3(PDP1):c.1431C>T (p.Asn477=) rs147477305
NM_018444.3(PDP1):c.1446C>T (p.Leu482=) rs137975172
NM_018444.3(PDP1):c.546C>T (p.Ser182=) rs202034256
NM_018444.3(PDP1):c.717C>G (p.Ala239=) rs150112501
NM_018444.3(PDP1):c.906C>T (p.Asp302=) rs138488258
NM_020435.4(GJC2):c.-20G>C
NM_020717.3(SHROOM4):c.1996G>A (p.Glu666Lys)
NM_020717.3(SHROOM4):c.2672G>T (p.Ser891Ile)
NM_020717.3(SHROOM4):c.3955G>A (p.Glu1319Lys)
NM_021074.4(NDUFV2):c.-30G>T rs139650842
NM_021074.4(NDUFV2):c.-39G>T rs748188888
NM_021074.4(NDUFV2):c.-83C>T rs540830035
NM_021074.4(NDUFV2):c.-94A>T rs552940397
NM_021074.4(NDUFV2):c.-98G>T rs886054123
NM_021074.4(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.4(NDUFV2):c.301-10A>G rs756241126
NM_021074.4(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.4(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.4(NDUFV2):c.546C>T (p.Asn182=) rs143576401
NM_021074.4(NDUFV2):c.580-12T>A rs114558512
NM_021074.5(NDUFV2):c.120+1G>C
NM_021074.5(NDUFV2):c.435dup (p.Asp146Terfs)
NM_024120.4(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138
NM_024120.4(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_024407.4(NDUFS7):c.*15_*20delCCGCCG rs3065757
NM_024407.4(NDUFS7):c.*18_*20delCCG rs3065757
NM_024407.4(NDUFS7):c.*8G>A rs756081375
NM_024407.4(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.4(NDUFS7):c.21T>C (p.Pro7=) rs201222388
NM_024407.4(NDUFS7):c.270C>T (p.Ala90=) rs375120743
NM_024407.4(NDUFS7):c.322G>A (p.Val108Met) rs368174338
NM_024407.4(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024407.4(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806
NM_025152.2(NUBPL):c.*1015C>A rs551958784
NM_025152.2(NUBPL):c.*1048G>A rs886050455
NM_025152.2(NUBPL):c.*1053G>A rs546991443
NM_025152.2(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.2(NUBPL):c.*1121_*1123delTCA rs886050458
NM_025152.2(NUBPL):c.*1121dupT rs886050457
NM_025152.2(NUBPL):c.*1122_*1124delCAA rs886050460
NM_025152.2(NUBPL):c.*1122dupC rs886050459
NM_025152.2(NUBPL):c.*1144_*1147delAAAA rs34847511
NM_025152.2(NUBPL):c.*1145_*1148delAAAG rs886050463
NM_025152.2(NUBPL):c.*1146_*1148delAAG rs886050464
NM_025152.2(NUBPL):c.*1147dupA rs34847511
NM_025152.2(NUBPL):c.*1148delG rs886050465
NM_025152.2(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.2(NUBPL):c.*1151G>A rs550119169
NM_025152.2(NUBPL):c.*1155dupG rs886050467
NM_025152.2(NUBPL):c.*1260T>C rs551289319
NM_025152.2(NUBPL):c.*135T>G rs377738028
NM_025152.2(NUBPL):c.*1609G>A rs142179743
NM_025152.2(NUBPL):c.*1619C>T rs886050468
NM_025152.2(NUBPL):c.*1773A>G rs886050469
NM_025152.2(NUBPL):c.*1776G>A rs886050470
NM_025152.2(NUBPL):c.*1840A>G rs886050471
NM_025152.2(NUBPL):c.*188T>C rs569141248
NM_025152.2(NUBPL):c.*2036A>C rs886050472
NM_025152.2(NUBPL):c.*355T>C rs886050452
NM_025152.2(NUBPL):c.*357C>G rs576520205
NM_025152.2(NUBPL):c.*527G>A rs560274677
NM_025152.2(NUBPL):c.*561G>A rs189555353
NM_025152.2(NUBPL):c.*638C>G rs886050454
NM_025152.2(NUBPL):c.*905A>C rs750277296
NM_025152.2(NUBPL):c.-13A>G rs754769393
NM_025152.2(NUBPL):c.-1C>T rs45468395
NM_025152.2(NUBPL):c.-25A>G rs749942385
NM_025152.2(NUBPL):c.-39G>A rs886050446
NM_025152.2(NUBPL):c.-7C>T rs201073307
NM_025152.2(NUBPL):c.109-11A>T rs886050448
NM_025152.2(NUBPL):c.162C>T (p.Ser54=) rs34570972
NM_025152.2(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.2(NUBPL):c.285C>T (p.Asn95=) rs373232503
NM_025152.2(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.2(NUBPL):c.349A>G (p.Met117Val)
NM_025152.2(NUBPL):c.369G>A (p.Pro123=) rs755482148
NM_025152.2(NUBPL):c.383G>A (p.Ser128Asn) rs143612760
NM_025152.2(NUBPL):c.384C>T (p.Ser128=) rs886050450
NM_025152.2(NUBPL):c.46C>T (p.Arg16Trp) rs886050447
NM_025152.2(NUBPL):c.488C>T (p.Ser163Leu) rs781341998
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.2(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.2(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.2(NUBPL):c.639C>T (p.Ile213=) rs35330765
NM_025152.2(NUBPL):c.677G>A (p.Arg226His) rs79498789
NM_025152.2(NUBPL):c.685C>T (p.His229Tyr) rs35867418
NM_025152.2(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.2(NUBPL):c.894T>A (p.Asp298Glu) rs770850110
NM_031206.4(LAS1L):c.1082C>G (p.Pro361Arg) rs867562406
NM_031206.4(LAS1L):c.1203G>T (p.Arg401Ser)
NM_031206.4(LAS1L):c.1472G>A (p.Gly491Asp) rs1556301877
NM_031206.4(LAS1L):c.1735G>A (p.Val579Ile) rs200862250
NM_031206.4(LAS1L):c.1892G>C (p.Gly631Ala) rs371394378
NM_031206.4(LAS1L):c.2050C>T (p.Arg684Trp) rs762602796
NM_031206.4(LAS1L):c.502G>A (p.Asp168Asn)
NM_031206.4(LAS1L):c.715G>T (p.Asp239Tyr)
NM_031206.4(LAS1L):c.937G>A (p.Gly313Ser)
NM_031206.4(LAS1L):c.940G>A (p.Val314Ile) rs137948118
NM_031407.4(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552
NM_031407.6(HUWE1):c.-24-2A>G
NM_031407.6(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
NM_031407.6(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met)
NM_032458.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885
NM_080632.2(UPF3B):c.1118G>A (p.Arg373His) rs146785878
NM_080632.2(UPF3B):c.1202G>A (p.Arg401Gln)
NM_133499.2(SYN1):c.1198G>A (p.Asp400Asn) rs772668988
NM_133499.2(SYN1):c.1310C>T (p.Pro437Leu) rs895517774
NM_133499.2(SYN1):c.1325T>C (p.Leu442Pro) rs375440874
NM_133499.2(SYN1):c.1363C>T (p.Pro455Ser)
NM_133499.2(SYN1):c.1369G>C (p.Ala457Pro) rs748323076
NM_133499.2(SYN1):c.1493C>T (p.Pro498Leu)
NM_133499.2(SYN1):c.1615G>A (p.Gly539Ser) rs794727076
NM_133499.2(SYN1):c.1667G>T (p.Arg556Leu)
NM_133499.2(SYN1):c.184T>G (p.Ser62Ala) rs1294224206
NM_133499.2(SYN1):c.1961G>A (p.Gly654Glu) rs749342768
NM_133499.2(SYN1):c.213G>A (p.Ser71=)
NM_133499.2(SYN1):c.350T>C (p.Leu117Pro) rs1556861785
NM_133499.2(SYN1):c.360C>A (p.Asp120Glu) rs372165835
NM_133499.2(SYN1):c.473A>G (p.Asn158Ser) rs765486966
NM_133499.2(SYN1):c.526C>T (p.Arg176Trp) rs769458536
NM_133499.2(SYN1):c.581G>A (p.Arg194His)
NM_133499.2(SYN1):c.883G>A (p.Val295Met) rs1085307749
NM_138923.3(TAF1):c.481C>G (p.Pro161Ala)
NM_139058.2(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139058.2(ARX):c.187G>A (p.Ala63Thr)
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-21_-20dupGC rs886060725
NM_174889.4(NDUFAF2):c.-63G>T rs886060724
NM_174889.4(NDUFAF2):c.-66G>C rs376045901
NM_174889.4(NDUFAF2):c.128-14C>G rs537327206
NM_174889.4(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726
NM_174889.4(NDUFAF2):c.196G>C (p.Asp66His) rs769579395
NM_174889.4(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045
NM_174889.4(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.4(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068
NM_175614.4(NDUFA11):c.*55G>C rs771648754
NM_175614.4(NDUFA11):c.*59C>G rs191571307
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
NM_175614.4(NDUFA11):c.-143C>G rs550697802
NM_175614.4(NDUFA11):c.-201_-200delCT rs759857076
NM_175614.4(NDUFA11):c.-210T>C rs886054650
NM_175614.4(NDUFA11):c.-234T>C rs115530541
NM_175614.4(NDUFA11):c.-300G>A rs563822139
NM_175614.4(NDUFA11):c.-31G>A rs886054648
NM_175614.4(NDUFA11):c.-51T>G rs886054649
NM_175614.4(NDUFA11):c.-83G>C rs562075121
NM_175614.4(NDUFA11):c.138G>A (p.Pro46=) rs138889960
NM_175614.4(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.4(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745
NM_178151.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_198270.3(NHS):c.152C>T (p.Ala51Val) rs727504039
NM_198270.3(NHS):c.176_177delGCinsAA (p.Arg59Gln) rs797045739
NM_198270.3(NHS):c.302_337dup (p.Ala112_Ala113insGluAlaAlaProAlaAlaGlyGluAlaSerSerAla) rs398124607
NM_198270.3(NHS):c.4090G>A (p.Ala1364Thr)
NM_198276.2(TMEM17):c.306C>A (p.Asn102Lys) rs201339749
NM_199069.1(NDUFAF3):c.*169G>C rs886058669
NM_199069.1(NDUFAF3):c.*194G>C rs78116829
NM_199069.1(NDUFAF3):c.-118G>A rs886058666
NM_199069.1(NDUFAF3):c.-126G>C rs75749590
NM_199069.1(NDUFAF3):c.-127G>C rs74601553
NM_199069.1(NDUFAF3):c.-241C>T rs573066357
NM_199069.1(NDUFAF3):c.-249C>T rs886058665
NM_199069.1(NDUFAF3):c.-363C>G rs760652685
NM_199069.1(NDUFAF3):c.-369C>T rs886058664
NM_199069.1(NDUFAF3):c.-370A>G rs886058663
NM_199069.1(NDUFAF3):c.-489T>C rs886058662
NM_199069.1(NDUFAF3):c.180_181insT (p.Asp61Terfs) rs752864722
NM_199069.1(NDUFAF3):c.312C>A (p.Leu104=) rs770941671
NM_199069.1(NDUFAF3):c.338-12A>C rs774901107
NM_199069.1(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179
NM_199069.1(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.1(NDUFAF3):c.438+9C>T rs374825937
NM_199069.1(NDUFAF3):c.550C>T (p.Gln184Ter)
NM_199069.1(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668
NM_203473.2(PORCN):c.838_839delACinsCCCCCAG (p.Thr280Profs) rs1556974808

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