ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Ambry Genetics

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1371 1621 0 447 623 1 16 1086

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 4 9 0 554 35
likely benign 0 0 21 0 109
benign 0 0 13 332 0
other 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1086
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) rs375624881
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000381.4(MID1):c.1698A>G (p.Glu566=) rs34554583
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563
NM_000744.6(CHRNA4):c.77-4G>A rs201123897
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000834.4(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
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.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
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.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) rs369179210
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001234.5(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_001234.5(CAV3):c.417C>T (p.Val139=) rs147250678
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942
NM_001267550.2(TTN):c.10114+5G>A rs115985443
NM_001267550.2(TTN):c.10115-4G>A rs367648529
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=) rs886039175
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993
NM_001267550.2(TTN):c.10303+2T>C rs371596417
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=) rs370105333
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=) rs267599069
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg) rs780073797
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=) rs755492644
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568
NM_001267550.2(TTN):c.44112C>T (p.His14704=) rs754693395
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=) rs368005198
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys) rs776190494
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=) rs373305832
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=) rs749248039
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) rs750472100
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368
NM_001267550.2(TTN):c.56850G>A (p.Val18950=) rs368068200
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=) rs374472044
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=) rs368969893
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=) rs371034493
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) rs371563258
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) rs369528150
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) rs372611171
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_001278074.1(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001318510.2(ACSL4):c.806+3A>G rs183171123
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
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.93A>G (p.Arg31=) rs140332992
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=) rs1553656447
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1890A>G (p.Gln630=) rs141791080
NM_001354689.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) rs147850435
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.139C>T (p.Leu47=) rs140721259
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) rs368473756
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002471.3(MYH6):c.210T>C (p.Thr70=) rs147397431
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753
NM_002693.2(POLG):c.1389G>A (p.Leu463=) rs150828914
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.4(STXBP1):c.1404C>A (p.Ile468=) rs777499631
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003238.5(TGFB2):c.1239C>T (p.Cys413=) rs141225367
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003673.3(TCAP):c.353C>T (p.Ala118Val) rs143233087
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
NM_004006.2(DMD):c.1095A>C (p.Gln365His) rs1800266
NM_004006.2(DMD):c.1513G>C (p.Val505Leu) rs140340626
NM_004006.2(DMD):c.1704+3G>A rs773123973
NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) rs150199251
NM_004006.2(DMD):c.1812C>T (p.Ala604=) rs140919039
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.3020C>T (p.Ser1007Leu) rs144732570
NM_004006.2(DMD):c.3951G>A (p.Glu1317=) rs199643655
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.468A>C (p.Val156=) rs886044031
NM_004006.2(DMD):c.6471T>A (p.Thr2157=) rs377080659
NM_004006.2(DMD):c.7243C>T (p.Arg2415Cys) rs139395045
NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) rs147694734
NM_004006.2(DMD):c.8076A>G (p.Gln2692=) rs144518527
NM_004006.2(DMD):c.8226A>G (p.Gln2742=) rs746514008
NM_004006.2(DMD):c.8571T>C (p.Thr2857=) rs72466570
NM_004006.2(DMD):c.8767G>T (p.Ala2923Ser) rs116283249
NM_004006.2(DMD):c.8974G>A (p.Val2992Met) rs201691420
NM_004006.2(DMD):c.9165G>A (p.Thr3055=) rs137905486
NM_004006.2(DMD):c.9804A>G (p.Gln3268=) rs12690372
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) rs151184308
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) rs61734179
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478
NM_004595.5(SMS):c.569C>T (p.Thr190Ile) rs201275730
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614
NM_004612.4(TGFBR1):c.-2C>T rs200224304
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=) rs143319002
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005249.5(FOXG1):c.*4C>T rs774917687
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) rs147404470
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.255A>T (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.3(HCN4):c.1978+3G>T rs113112855
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005751.4(AKAP9):c.10767G>A (p.Leu3589=) rs56198613
NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671
NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_006013.4(RPL10):c.291C>T (p.Ile97=) rs138325578
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481
NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=) rs563317319
NM_006359.3(SLC9A6):c.1143G>A (p.Leu381=) rs151178361
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.498C>T (p.Val166=) rs150971143
NM_006516.3(SLC2A1):c.679+4C>T rs139492241
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640
NM_007078.3(LDB3):c.896+6722G>A rs144445130
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln)
NM_014491.4(FOXP2):c.483A>G (p.Gln161=) rs62640396
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=) rs185223937
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016729.3(FOLR1):c.157T>C (p.Leu53=) rs143413500
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) rs111353525
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.1440C>T (p.Phe480=) rs141324814
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) rs150771329
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) rs115816749
NM_018328.4(MBD5):c.69G>A (p.Val23=) rs151204004
NM_018941.3(CLN8):c.11C>T (p.Ala4Val) rs147181589
NM_020433.4(JPH2):c.1380G>A (p.Ala460=) rs531877510
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808
NM_021072.4(HCN1):c.1619-3T>C rs376434225
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021120.4(DLG3):c.409-4G>T rs188475429
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1364T>C (p.Met455Thr) rs143585233
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) rs61756006
NM_022455.4(NSD1):c.3150C>T (p.Thr1050=) rs144257298
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.4(NSD1):c.5520A>G (p.Glu1840=) rs140815139
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032682.6(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.-1G>A rs74377241
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.4289-4C>G rs376670657
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_080632.2(UPF3B):c.1073G>A (p.Arg358His) rs181034787
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.687T>C (p.Asp229=) rs372150992
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931
NM_172056.2(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_172056.2(KCNH2):c.1528C>T (p.Leu510=) rs75648145
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172107.4(KCNQ2):c.*4G>A rs1801508
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236
NM_181332.3(NLGN4X):c.2223C>T (p.His741=) rs541646409
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=) rs75350246
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=) rs145911431
NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=) rs112113213
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466

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