ClinVar Miner

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

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1094
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HGVS dbSNP
NC_000023.10:g.146993570GGC[(?_45)]
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570
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.768C>T (p.Asn256=)
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.901-5C>T rs782603062
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000052.7(ATP7A):c.-21-2239C>T rs62621209
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.2063G>A (p.Ser688Asn) rs1367140209
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.610+8G>A rs144616937
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000108.5(DLD):c.*1074C>G
NM_000108.5(DLD):c.*1300A>G
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*1688G>A rs8440
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*470G>T
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*487C>T rs4518
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.*855C>T rs116055514
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000166.6(GJB1):c.*117C>T rs41307256
NM_000166.6(GJB1):c.*163G>T rs139775308
NM_000166.6(GJB1):c.*309G>A
NM_000166.6(GJB1):c.*34C>A rs113014279
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.103+7C>T rs369735286
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487
NM_000240.3(MAOA):c.168+11_168+15del rs375984321
NM_000240.3(MAOA):c.515G>A (p.Arg172Gln) rs58524323
NM_000240.3(MAOA):c.816G>A (p.Ala272=) rs751223564
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1468-10C>T rs782174623
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1702A>G (p.Ile568Val) rs587783807
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000252.2(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) rs1408923946
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) rs755071897
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625
NM_000284.4(PDHA1):c.*1013C>A
NM_000284.4(PDHA1):c.*1059G>A
NM_000284.4(PDHA1):c.*110C>T
NM_000284.4(PDHA1):c.*1208A>C
NM_000284.4(PDHA1):c.*1345A>G
NM_000284.4(PDHA1):c.*1377G>A
NM_000284.4(PDHA1):c.*1394C>T
NM_000284.4(PDHA1):c.*1450C>T
NM_000284.4(PDHA1):c.*1563C>G
NM_000284.4(PDHA1):c.*1598G>C
NM_000284.4(PDHA1):c.*1682T>C
NM_000284.4(PDHA1):c.*1869G>C rs15943
NM_000284.4(PDHA1):c.*319G>T
NM_000284.4(PDHA1):c.*322G>A
NM_000284.4(PDHA1):c.*392G>A
NM_000284.4(PDHA1):c.*525C>G
NM_000284.4(PDHA1):c.*614G>T
NM_000284.4(PDHA1):c.*707G>A
NM_000284.4(PDHA1):c.*728C>T
NM_000284.4(PDHA1):c.*844A>G
NM_000284.4(PDHA1):c.*857A>G
NM_000284.4(PDHA1):c.*864G>A
NM_000284.4(PDHA1):c.-88G>A
NM_000284.4(PDHA1):c.-98C>T
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.291+12G>A
NM_000284.4(PDHA1):c.292-5C>T rs191666624
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.759+10C>G rs375488072
NM_000284.4(PDHA1):c.760-15C>A rs7058209
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213
NM_000284.4(PDHA1):c.831+15C>T rs190157093
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067
NM_000489.5(ATRX):c.1032C>T (p.Ser344=) rs143491422
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1047C>G (p.Pro349=) rs200288042
NM_000489.5(ATRX):c.1245C>T (p.Ser415=) rs141815992
NM_000489.5(ATRX):c.1257G>A (p.Ala419=) rs185550133
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1303A>G (p.Ile435Val) rs371580333
NM_000489.5(ATRX):c.1423C>G (p.His475Asp) rs146863015
NM_000489.5(ATRX):c.1446A>C (p.Glu482Asp) rs886044778
NM_000489.5(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.5(ATRX):c.1467C>T (p.Thr489=) rs199929884
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.189+7A>G rs781842591
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2118T>A (p.Ser706Arg) rs782598442
NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.5(ATRX):c.2224A>G (p.Ser742Gly) rs368980616
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2423G>A (p.Arg808Gln) rs782181535
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497
NM_000489.5(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.5(ATRX):c.2531C>A (p.Thr844Lys) rs139131007
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2648A>G (p.Gln883Arg) rs587778086
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2697G>A (p.Thr899=) rs137974888
NM_000489.5(ATRX):c.2701A>G (p.Ile901Val) rs587778087
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2923G>A (p.Asp975Asn) rs200709847
NM_000489.5(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.5(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3306G>A (p.Arg1102=) rs782279780
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3646A>G (p.Ile1216Val) rs782062542
NM_000489.5(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.3978A>G (p.Ser1326=) rs369658928
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4214+6A>G rs782562759
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4710T>C (p.Phe1570=) rs781829081
NM_000489.5(ATRX):c.5073A>G (p.Gln1691=) rs781845474
NM_000489.5(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.5(ATRX):c.5349A>G (p.Pro1783=) rs149960511
NM_000489.5(ATRX):c.5493C>T (p.His1831=) rs782508028
NM_000489.5(ATRX):c.5566+5A>C rs782212670
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5698-15dup rs781820607
NM_000489.5(ATRX):c.5698-7del rs781820607
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5957-9C>G rs375791318
NM_000489.5(ATRX):c.6024T>C (p.Asp2008=) rs782159753
NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.5(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.6873A>G (p.Ile2291Met) rs192057045
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.5(ATRX):c.7254C>T (p.Tyr2418=) rs782527659
NM_000489.5(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.299-8T>A rs73196229
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.718-14T>C rs55722856
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.867+35T>G rs62622415
NM_000925.4(PDHB):c.*243A>C rs1126722
NM_000925.4(PDHB):c.*296C>G rs7231
NM_000925.4(PDHB):c.*353T>C rs1126735
NM_000925.4(PDHB):c.*356A>G rs1126737
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.*99C>T rs7230
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.204+9A>C rs202068841
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_001001344.2(ATP2B3):c.1473A>G (p.Gly491=) rs3020949
NM_001001344.2(ATP2B3):c.2326+11C>T rs3020957
NM_001001344.2(ATP2B3):c.2592G>C (p.Val864=) rs2269415
NM_001001344.2(ATP2B3):c.2839+14G>T rs3020959
NM_001001344.2(ATP2B3):c.3052-5C>T rs189012896
NM_001001344.2(ATP2B3):c.790+17G>C rs2980013
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) rs139194076
NM_001008537.3(NEXMIF):c.2849A>T (p.Tyr950Phe) rs373566578
NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.374+8T>C rs142596708
NM_001015877.2(PHF6):c.729+4A>G rs188961105
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val) rs61729484
NM_001032382.2(PQBP1):c.*3C>T
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)
NM_001042537.1(SLC9A6):c.*8A>T rs200171451
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1236+80dup rs35492327
NM_001042537.1(SLC9A6):c.1239G>A (p.Leu413=) rs151178361
NM_001042537.1(SLC9A6):c.1616+10A>G rs185533973
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1616+6T>C rs781963949
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.630T>C (p.Ser210=) rs144316388
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110556.2(FLNA):c.1691+7C>A rs199565118
NM_001110556.2(FLNA):c.1692-10G>A rs199740539
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001110556.2(FLNA):c.4598+8G>C rs112379782
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268
NM_001110556.2(FLNA):c.5218-4G>A rs370196495
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745
NM_001110556.2(FLNA):c.6503-9A>G rs781919390
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814
NM_001110556.2(FLNA):c.7023+10C>T rs782777494
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001110556.2(FLNA):c.7553-10T>C rs782156724
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001110556.2(FLNA):c.7756+8A>G rs201663443
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001110556.2(FLNA):c.869-7C>T rs143311779
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239
NM_001110792.2(MECP2):c.1134_1136CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245
NM_001122606.1(LAMP2):c.*1723A>G rs142200759
NM_001122606.1(LAMP2):c.*1740A>G rs42885
NM_001122606.1(LAMP2):c.*1832C>T rs1045953
NM_001122606.1(LAMP2):c.*2199A>G rs2748
NM_001122606.1(LAMP2):c.*2209A>T rs113285013
NM_001122606.1(LAMP2):c.*409G>A rs5957380
NM_001122606.1(LAMP2):c.*410T>C rs41300908
NM_001122606.1(LAMP2):c.*848T>C rs185627568
NM_001122606.1(LAMP2):c.1094-1080C>T rs141881232
NM_001122606.1(LAMP2):c.1094-1108A>G rs73612906
NM_001122606.1(LAMP2):c.1094-1341C>G rs188897063
NM_001122606.1(LAMP2):c.1094-1383T>C rs5957381
NM_001122606.1(LAMP2):c.1094-1601T>C rs5957382
NM_001122606.1(LAMP2):c.1094-1626G>T rs2285548
NM_001122606.1(LAMP2):c.1094-173T>C rs150119198
NM_001122606.1(LAMP2):c.1094-2211A>G rs5957383
NM_001122606.1(LAMP2):c.1094-2220T>C rs750939378
NM_001122606.1(LAMP2):c.1094-237A>G rs10127182
NM_001122606.1(LAMP2):c.1094-2400A>C rs8160
NM_001122606.1(LAMP2):c.1094-2492C>T rs41300191
NM_001122606.1(LAMP2):c.1094-2664A>G rs745798436
NM_001122606.1(LAMP2):c.1094-2739T>C rs752231323
NM_001122606.1(LAMP2):c.1094-302A>G rs10127185
NM_001122606.1(LAMP2):c.1094-436A>G rs12395643
NM_001122606.1(LAMP2):c.1094-502T>C rs13441024
NM_001122606.1(LAMP2):c.1094-514T>C rs765214315
NM_001122606.1(LAMP2):c.1094-535G>A rs767123866
NM_001122606.1(LAMP2):c.1094-549A>G rs756504749
NM_001122606.1(LAMP2):c.1094-692C>G rs200014321
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=) rs531585800
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=) rs758579970
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) rs200732803
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) rs140693978
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) rs139011455
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala) rs143119333
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=) rs3810693
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=) rs190344757
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) rs202065982
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=) rs374359497
NM_001123385.2(BCOR):c.3378C>T (p.His1126=) rs137923016
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) rs769057299
NM_001123385.2(BCOR):c.3669G>A (p.Ser1223=) rs372032523
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) rs140897453
NM_001123385.2(BCOR):c.3847+7G>A rs142686469
NM_001123385.2(BCOR):c.3847+7G>C rs142686469
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) rs780412607
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=) rs370429826
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) rs760093247
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) rs142236686
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) rs780610123
NM_001123385.2(BCOR):c.4977-4G>T rs5963725
NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=) rs113588421
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=) rs375139386
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) rs143697110
NM_001123385.2(BCOR):c.711C>T (p.Val237=) rs727503827
NM_001123385.2(BCOR):c.946C>T (p.Pro316Ser) rs200052076
NM_001135024.1(PDHX):c.115+41C>T rs112032820
NM_001135024.1(PDHX):c.115+41_115+43del rs371074122
NM_001135024.1(PDHX):c.115+46G>C rs375130125
NM_001135024.1(PDHX):c.115+82C>A rs2956110
NM_001142386.3(PDK3):c.1077+8G>A rs370736936
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001166158.1(PDHX):c.-202A>G rs113073242
NM_001166158.1(PDHX):c.-272G>A rs2956111
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala) rs368703052
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn) rs145200841
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848
NM_001315536.1(PDHB):c.-26G>A rs201243189
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_001323289.2(CDKL5):c.464-9A>G rs374030184
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.*1248G>C rs9822
NM_001931.5(DLAT):c.*419A>G rs9371
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
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.693C>T (p.Thr231=) rs34680691
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_002024.6(FMR1):c.*746T>C rs183130936
NM_002291.3(LAMB1):c.5225-7C>T rs3213673
NM_002294.3(LAMP2):c.*1243A>G
NM_002294.3(LAMP2):c.*2518A>G
NM_002294.3(LAMP2):c.*2575G>C
NM_002294.3(LAMP2):c.*2746A>G rs3827478
NM_002294.3(LAMP2):c.*2794T>C
NM_002294.3(LAMP2):c.*3452T>C
NM_002294.3(LAMP2):c.*3459G>T
NM_002294.3(LAMP2):c.*3494A>G
NM_002294.3(LAMP2):c.*3583A>G
NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
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.741+11C>T rs149155417
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002488.4(NDUFA2):c.-136A>G rs778594
NM_002488.4(NDUFA2):c.-48A>G rs778593
NM_002495.4(NDUFS4):c.*46G>A rs567
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.336T>C (p.Val112=) rs80338674
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.*158C>T
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003159.2(CDKL5):c.2896G>A (p.Val966Ile) rs747799506
NM_003159.2(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) rs587783161
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) rs866859766
NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) rs150900695
NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) rs35693326
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003413.4(ZIC3):c.*1189A>G rs41300285
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.*26T>C
NM_003413.4(ZIC3):c.*41A>G rs12387258
NM_003413.4(ZIC3):c.*489A>G rs183286584
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820
NM_003477.3(PDHX):c.*123A>G rs59918794
NM_003477.3(PDHX):c.*173G>A rs75863418
NM_003477.3(PDHX):c.*200T>C rs16926653
NM_003477.3(PDHX):c.*27A>C rs74524673
NM_003477.3(PDHX):c.*486G>T rs9326
NM_003477.3(PDHX):c.*644C>A rs7808
NM_003477.3(PDHX):c.*890T>C rs1049333
NM_003477.3(PDHX):c.-23C>A rs201033364
NM_003477.3(PDHX):c.-4C>G rs3818401
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018
NM_003477.3(PDHX):c.241+3G>A rs78878052
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109
NM_003477.3(PDHX):c.641+4T>C rs2767035
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003588.3(CUL4B):c.2688G>A (p.Arg896=) rs143580749
NM_003588.3(CUL4B):c.901-10del rs762094686
NM_003611.2:c.441+65A>G
NM_003611.3(OFD1):c.-296G>T rs2285635
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.111+3A>G rs312262804
NM_003611.3(OFD1):c.1129+8T>A rs199572133
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416
NM_003611.3(OFD1):c.654+29G>A rs312262805
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.936-2A>G rs199902986
NM_003688.3(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_004085.4(TIMM8A):c.*503_*505dup rs4024308
NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) rs16989105
NM_004544.4(NDUFA10):c.*1189C>T rs66534347
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*1957G>A rs4854069
NM_004544.4(NDUFA10):c.*2309G>A rs1132778
NM_004544.4(NDUFA10):c.*2602C>T rs58261980
NM_004544.4(NDUFA10):c.*308C>T rs8369
NM_004544.4(NDUFA10):c.*3204C>T rs34277046
NM_004544.4(NDUFA10):c.*3450G>A rs7573892
NM_004544.4(NDUFA10):c.*396C>G
NM_004544.4(NDUFA10):c.*414G>A rs13424612
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.*631C>T rs10933622
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.-388G>T rs3813623
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494
NM_004553.4(NDUFS6):c.-12C>T rs145747389
NM_004553.5(NDUFS6):c.309+208T>C rs4147773
NM_004553.5(NDUFS6):c.310-15T>C rs10058270
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023
NM_004992.3(MECP2):c.377+28A>G rs185036026
NM_004992.3(MECP2):c.378-17del rs61753982
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_005006.7(NDUFS1):c.*336G>T rs1044120
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*733A>G rs6707707
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.154-11_154-9del rs568965659
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482
NM_005120.3(MED12):c.5400+6C>T rs192656109
NM_005120.3(MED12):c.5400+7G>A rs201254124
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.736-8A>C rs62609586
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser) rs762634382
NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln) rs727503933
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val) rs1057520147
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455
NM_005249.5(FOXG1):c.378C>T (p.Gly126=) rs572031458
NM_005249.5(FOXG1):c.418G>A (p.Val140Ile)
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005629.4(SLC6A8):c.-5A>G rs384573
NM_005629.4(SLC6A8):c.1016+10G>A rs371905179
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) rs144252036
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=)
NM_005629.4(SLC6A8):c.1141+6G>A rs373124777
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=) rs782477779
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) rs782066930
NM_005629.4(SLC6A8):c.1254+6C>T rs782764159
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=) rs782302903
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210
NM_005629.4(SLC6A8):c.1496-7G>A rs781814962
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=) rs201838389
NM_005629.4(SLC6A8):c.1597-5C>T rs376073223
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=) rs149677083
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu) rs201044530
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=) rs201044530
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505
NM_005629.4(SLC6A8):c.1767+8_1767+11dup rs1185206859
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) rs782808736
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=) rs375818489
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=) rs144904949
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser) rs199937648
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) rs202136567
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) rs143019641
NM_005629.4(SLC6A8):c.645-6C>T rs377181706
NM_005629.4(SLC6A8):c.777+4C>T rs201581661
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=) rs141219551
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.4(SLC6A8):c.819C>T (p.Val273=) rs143750068
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.912+9G>A rs782694291
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934
NM_005710.2(PQBP1):c.-87C>T rs150603792
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005710.2(PQBP1):c.264G>A (p.Ser88=) rs398124212
NM_005710.2(PQBP1):c.585C>T (p.Ser195=) rs149688357
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032
NM_006859.4(LIAS):c.393+10G>A rs372094616
NM_006859.4(LIAS):c.393+8C>A rs201574806
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562
NM_006950.3(SYN1):c.838-8T>G rs12394306
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605
NM_007103.4(NDUFV1):c.-66G>A rs73490568
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007325.5(GRIA3):c.268+16757dup rs778944548
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_013995.2(LAMP2):c.-33C>T rs368403767
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_013995.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_013995.2(LAMP2):c.504C>T (p.Tyr168=) rs150520869
NM_013995.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_013995.2(LAMP2):c.797G>A (p.Arg266His) rs200934351
NM_013995.2(LAMP2):c.929-5T>C rs375341409
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762
NM_014165.4(NDUFAF4):c.*301T>A rs1854268
NM_014165.4(NDUFAF4):c.*323A>T rs9487453
NM_014165.4(NDUFAF4):c.*332A>T rs10499008
NM_014165.4(NDUFAF4):c.*382T>A rs1971475
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242
NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn) rs200483534
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205
NM_014467.3(SRPX2):c.918T>C (p.Cys306=) rs34728871
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014751.5(MTSS1):c.1036-28C>T rs4870903
NM_014751.5(MTSS1):c.619-571G>A rs6470252
NM_015957.4(APIP):c.-53C>T rs2956113
NM_015957.4(APIP):c.-70T>C rs2956112
NM_015957.4(APIP):c.19C>T (p.Arg7Trp) rs2956114
NM_015957.4(APIP):c.57+77C>T rs16926448
NM_015957.4(APIP):c.57+78A>G rs2016814
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys) rs185917523
NM_016032.4(ZDHHC9):c.167+10G>A rs140526450
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=) rs77513704
NM_016032.4(ZDHHC9):c.626-10A>T rs188156112
NM_016032.4(ZDHHC9):c.674+9C>T rs376385410
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000
NM_017547.4(FOXRED1):c.*113G>A rs667627
NM_017547.4(FOXRED1):c.*129C>G rs594318
NM_017547.4(FOXRED1):c.-2T>C rs1786702
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.4(PDP1):c.*36T>C rs4735258
NM_018444.4(PDP1):c.*631G>C rs911
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896
NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG rs1600306218
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_025152.3(NUBPL):c.*122G>C rs4981131
NM_025152.3(NUBPL):c.*1685A>G rs1129622
NM_025152.3(NUBPL):c.*1694G>A rs1129623
NM_025152.3(NUBPL):c.*1874A>G rs10348
NM_025152.3(NUBPL):c.*1888G>A rs7148746
NM_025152.3(NUBPL):c.*273C>T rs76188062
NM_025152.3(NUBPL):c.*312G>A rs10162516
NM_025152.3(NUBPL):c.*444C>T rs10162515
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.*995T>C rs10136892
NM_031206.6(LAS1L):c.1788_1796TGATGAAGA[1] (p.596_598DDE[1]) rs766197666
NM_031206.7(LAS1L):c.1788_1790TGA[1] (p.Asp597del) rs750470319
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_080632.2(UPF3B):c.962T>C (p.Leu321Ser) rs775715153
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933
NM_133499.2(SYN1):c.1056-14_1056-8del rs377385507
NM_138270.4(ATRX):c.5854_5856TCT[2] (p.Ser1954del) rs782391479
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_175614.4(NDUFA11):c.-217A>G rs1056987
NM_175614.4(NDUFA11):c.-88C>A rs8108064
NM_198270.4(NHS):c.1697T>C (p.Met566Thr) rs187739639
NM_198270.4(NHS):c.2030G>A (p.Arg677Gln) rs140904281
NM_198270.4(NHS):c.207_209GCC[3] (p.Pro73del) rs10590816
NM_198270.4(NHS):c.2994A>G (p.Ala998=) rs751373846
NM_198270.4(NHS):c.3138T>C (p.Ser1046=) rs56908561
NM_198270.4(NHS):c.3141A>G (p.Leu1047=) rs56691712
NM_198270.4(NHS):c.3247C>T (p.His1083Tyr) rs201263814
NM_198270.4(NHS):c.3311C>T (p.Ser1104Leu) rs145005596
NM_198270.4(NHS):c.3988G>A (p.Asp1330Asn) rs148418212
NM_198270.4(NHS):c.4769G>C (p.Ser1590Thr) rs140651691
NM_198270.4(NHS):c.765C>G (p.Pro255=) rs143119491
NM_198270.4(NHS):c.828G>A (p.Glu276=) rs147497359
OFD1:c.653-6A>G

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