ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Invitae

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 929
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.283-2A>T rs147005619 0.00006
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001367561.1(DOCK7):c.4380-1G>T rs774949595 0.00002
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val) rs759121197 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) rs767045134 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg) rs1248613652 0.00001
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738 0.00001
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) rs922514173 0.00001
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr) rs1689707865 0.00001
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn) rs528239871 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly) rs762927460 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NM_001367561.1(DOCK7):c.819-1G>A rs763358033 0.00001
NM_006030.4(CACNA2D2):c.2234+1G>A rs749539763 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) rs775807509 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) rs746055240 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
NM_203446.3(SYNJ1):c.1201-2A>G rs1569086116 0.00001
NC_000001.10:g.(?_245025750)_(245027576_?)del
NC_000001.10:g.(?_44257753)_(44365419_?)dup
NC_000001.10:g.(?_44360035)_(44482805_?)del
NC_000002.11:g.(?_166210682)_(166211201_?)del
NC_000002.11:g.(?_166237239)_(166239066_?)del
NC_000002.11:g.(?_166847976)_(166851014_?)del
NC_000002.12:g.(?_165342276)_(165389844_?)del
NC_000009.12:g.(?_127672031)_(127676773_?)del
NC_000009.12:g.(?_127678411)_(127690877_?)del
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.9:g.(?_78148926)_(78166880_?)del
NC_000016.9:g.(?_78458747)_(78466669_?)dup
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NC_000020.10:g.(?_62050952)_(62078210_?)del
NC_000020.10:g.(?_62062673)_(62065276_?)dup
NC_000020.10:g.(?_62069958)_(62070093_?)del
NC_000020.10:g.(?_62069958)_(62078210_?)dup
NC_000020.11:g.(?_63406624)_(63407395_?)del
NC_000021.8:g.(?_34029319)_(34031816_?)del
NC_000023.10:g.(?_18582577)_(18627710_?)dup
NC_000023.10:g.(?_18582577)_(18631415_?)dup
NC_000023.10:g.(?_62875364)_(62944601_?)del
NC_000023.10:g.(?_99596881)_(99597093_?)dup
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val) rs1591605514
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp) rs1841611651
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly) rs886041337
NM_001032221.6(STXBP1):c.1110+1G>A
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1250-2A>G
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
NM_001032221.6(STXBP1):c.1360-2A>C rs1057522982
NM_001032221.6(STXBP1):c.1360-2A>T rs1057522982
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser) rs1841869298
NM_001032221.6(STXBP1):c.1461+1G>A
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg) rs2131535795
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg) rs1842044505
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu) rs796053374
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg) rs1554776228
NM_001032221.6(STXBP1):c.218_246+22del rs2132460935
NM_001032221.6(STXBP1):c.325+2T>A rs1840976417
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg) rs2131454649
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro) rs1060501724
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal) rs2131481685
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met) rs1840653229
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu) rs1840653547
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu) rs1697569337
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu) rs2105255430
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1672-2A>G
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val) rs1698670041
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu) rs1574636716
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val) rs1699475919
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer) rs2105318837
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del) rs2105319200
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu) rs2105319230
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp) rs1553583544
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly) rs1700069881
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys) rs2105336842
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del) rs1700070748
NM_001040142.2(SCN2A):c.3520+1G>T
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro) rs1700783234
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg) rs2105365343
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro) rs1701139863
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
NM_001040142.2(SCN2A):c.3973-2A>G rs1701219319
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly) rs1553593578
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn) rs1483179196
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr) rs2105373101
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val) rs1308555812
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4255-6T>A rs1701381827
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr) rs1085307898
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu) rs2105385669
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val) rs2105385694
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val) rs2105385817
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
NM_001040142.2(SCN2A):c.4552-2A>G
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala) rs1702003246
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys) rs1702003567
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys) rs1553463772
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr) rs2105403619
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn) rs1702039582
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val) rs2105243497
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln) rs1559352517
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser) rs2105244912
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile) rs2105245017
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala) rs1553567561
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) rs2144767386
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.5529-1215C>T rs2144616690
NM_001127222.2(CACNA1A):c.5529-1270A>G
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
NM_001130438.3(SPTAN1):c.1086-2A>C rs2131028639
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
NM_001130438.3(SPTAN1):c.1572+1G>T
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val) rs2131193011
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
NM_001130438.3(SPTAN1):c.3520-2A>G
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys) rs2131744077
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val) rs2131965427
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg) rs1851359623
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
NM_001130438.3(SPTAN1):c.6959+1G>T
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7161-2_7174del rs2132105386
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) rs1553548096
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) rs121918753
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser) rs2105867993
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr) rs1698007004
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala) rs1697999557
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro) rs1697998959
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys) rs1697998080
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) rs794726725
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del) rs2105862483
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn) rs398123581
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val) rs1697904829
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr) rs1684680680
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe) rs1697647054
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1663-3_1663-2del
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly) rs1697479557
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) rs1553560740
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile) rs2105827770
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val) rs1697134047
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn) rs1696888691
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
NM_001165963.4(SCN1A):c.2590-3_2601del
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
NM_001165963.4(SCN1A):c.264+1G>A
NM_001165963.4(SCN1A):c.264+1G>C rs1553560677
NM_001165963.4(SCN1A):c.264+3G>C rs746440689
NM_001165963.4(SCN1A):c.265-3C>G rs1553553614
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly) rs121918788
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) rs2105806431
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln) rs121918786
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser) rs2105806212
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile) rs1553541172
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly) rs1696618804
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp) rs922757507
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe) rs1553540503
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe) rs897883046
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys) rs1559195296
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) rs2105918428
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT rs2105611998
NM_001165963.4(SCN1A):c.3551-2A>T rs2105612020
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser) rs1559149128
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) rs1692873873
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly) rs1692866593
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val) rs2105609833
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe) rs2105609699
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) rs750364705
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.383+5C>G rs1060502185
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala) rs1692543303
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val) rs121918801
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr) rs121918803
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe) rs1691082638
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) rs121918805
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro) rs2105509598
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val) rs865867764
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) rs1553552378
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) rs1699149959
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser) rs1559127505
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val) rs373547836
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val) rs2105487145
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg) rs121917945
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) rs1573984593
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu) rs1690331819
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu) rs2105462778
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4563_4581+39del rs1559114202
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys) rs2105449347
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys) rs796053024
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly) rs1573964264
NM_001165963.4(SCN1A):c.471_473+6del
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro) rs2105447944
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) rs1698961617
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu) rs1689381070
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu) rs2105435603
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg) rs1689350809
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser) rs1064794766
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) rs796053031
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val) rs375651364
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro) rs2105433264
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp) rs2105432780
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr) rs1689298888
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys) rs1689298277
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser) rs1689294239
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys) rs2105432013
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr) rs1689278461
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg) rs1238612161
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His) rs796053035
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) rs796053035
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr) rs528239871
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro) rs2105429381
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del) rs2105428012
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu) rs1689211960
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly) rs1689142827
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly) rs1689136140
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val) rs1553551312
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) rs1574271827
NM_001165963.4(SCN1A):c.695-2A>G rs2105890879
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu) rs2105890375
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) rs1553549834
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro) rs1698602170
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg) rs2105888708
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp) rs779184118
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) rs2105874284
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr) rs1928365978
NM_001184880.2(PCDH19):c.2616+1G>A rs1602632270
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly) rs2147542320
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala) rs2147542056
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly) rs2147541358
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) rs1928438552
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp) rs2147540748
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) rs587784300
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) rs1459520904
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser) rs2147540049
NM_001191061.2(SLC25A22):c.202+1G>A rs1287249801
NM_001191061.2(SLC25A22):c.568_587+6del rs2133700632
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1503-2A>G
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2876+1G>T
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4137+2T>C
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-3C>A rs2141785016
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln) rs2147132235
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly) rs1924899673
NM_001323289.2(CDKL5):c.146-2A>C rs2147139522
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp) rs2147139669
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp) rs1925423909
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
NM_001323289.2(CDKL5):c.404-2_412del rs2147143992
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met) rs1310022305
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys) rs1925492808
NM_001323289.2(CDKL5):c.464-1G>C rs786204986
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr) rs1064794734
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.554+2T>C
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser) rs267608418
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly) rs1925697823
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg) rs2147148092
NM_001323289.2(CDKL5):c.64+2T>G
NM_001323289.2(CDKL5):c.825+1G>C
NM_001323289.2(CDKL5):c.826-1G>A rs587783149
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly) rs1926078505
NM_001323289.2(CDKL5):c.99+1G>C rs267608421
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val) rs2138742488
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr) rs1941714399
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu) rs1941714576
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His) rs2138748186
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala) rs2138748239
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.276+1G>A
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe) rs774522197
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly) rs1592149906
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val) rs2138868851
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp) rs1430513260
NM_001330260.2(SCN8A):c.3942+1G>T rs2138892902
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu) rs1555228668
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn) rs1938178701
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn) rs1938702028
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val) rs1938703803
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser) rs879255709
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val) rs1938712937
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu) rs1938721157
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg) rs2138944020
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val) rs2138944124
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile) rs1941650264
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr) rs1941650760
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys) rs2138735794
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
NM_001330260.2(SCN8A):c.929-2A>G
NM_001367561.1(DOCK7):c.1519+1G>A
NM_001367561.1(DOCK7):c.2200-2A>G
NM_001367561.1(DOCK7):c.2431+1G>A
NM_001367561.1(DOCK7):c.2432-2A>C rs760580647
NM_001367561.1(DOCK7):c.2596+1G>C
NM_001367561.1(DOCK7):c.2767-1G>A rs1645656856
NM_001367561.1(DOCK7):c.2949+2T>C
NM_001367561.1(DOCK7):c.3187-31_3274del rs2149393215
NM_001367561.1(DOCK7):c.5493+1G>T
NM_001367561.1(DOCK7):c.5724+1G>A rs2149260122
NM_001367561.1(DOCK7):c.5725-2A>G
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly) rs2145946848
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr) rs1602212285
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp) rs2131543392
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile) rs2101396443
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser) rs1557731896
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) rs1570752696
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser) rs2101398595
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile) rs1555321311
NM_005249.5(FOXG1):c.578C>A (p.Ala193Asp) rs2138661170
NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly)
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu) rs786205007
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_006030.4(CACNA2D2):c.1340-2A>G rs2106654236
NM_006030.4(CACNA2D2):c.1389+2T>C rs1575601202
NM_006030.4(CACNA2D2):c.1390-1G>C rs2106652662
NM_006030.4(CACNA2D2):c.1774-2A>G rs2106640384
NM_006030.4(CACNA2D2):c.1845+1G>T rs1704944478
NM_006030.4(CACNA2D2):c.2045+1G>A rs2109421369
NM_006030.4(CACNA2D2):c.206_206+34del rs2107204955
NM_006030.4(CACNA2D2):c.2234+1G>T
NM_006030.4(CACNA2D2):c.2402-2A>C rs1378156947
NM_006030.4(CACNA2D2):c.2637+1G>C
NM_006030.4(CACNA2D2):c.466-1G>C rs2106702374
NM_006030.4(CACNA2D2):c.784+1G>C rs1705277912
NM_006030.4(CACNA2D2):c.784+2T>G
NM_006030.4(CACNA2D2):c.842+1G>A rs1705258881
NM_006279.5(ST3GAL3):c.118+1G>A rs2154091891
NM_006279.5(ST3GAL3):c.167-2A>G
NM_006279.5(ST3GAL3):c.167-2A>T
NM_006279.5(ST3GAL3):c.210-1G>C
NM_006279.5(ST3GAL3):c.558-19_562del
NM_006279.5(ST3GAL3):c.891+1G>T rs2082857900
NM_006279.5(ST3GAL3):c.891+2T>G
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.865+1G>T
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014334.4(FRRS1L):c.239-2A>G rs1831307625
NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)
NM_014334.4(FRRS1L):c.463-2A>G rs1564229228
NM_015192.4(PLCB1):c.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.862+1G>A
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.605+1_605+2delinsAA rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.791+1G>T rs1164465811
NM_020708.5(SLC12A5):c.1337-2A>G
NM_020708.5(SLC12A5):c.147+1G>A
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.2012+1G>T rs2145497450
NM_020708.5(SLC12A5):c.3110+1G>A
NM_020708.5(SLC12A5):c.53-2A>C
NM_020708.5(SLC12A5):c.53-2A>G rs2084483775
NM_020708.5(SLC12A5):c.854+1G>A
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile) rs1057518066
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) rs1831666357
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys) rs587777264
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del) rs2143705016
NM_020988.3(GNAO1):c.119-2_119-1del
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu) rs886041766
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) rs869312939
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) rs2143272260
NM_020988.3(GNAO1):c.464+2T>C rs2143647375
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln) rs2037724743
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys) rs2036182701
NM_020988.3(GNAO1):c.593+1G>A
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn) rs758779535
NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)
NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro) rs2112040690
NM_021072.4(HCN1):c.881C>T (p.Ala294Val)
NM_021072.4(HCN1):c.908G>T (p.Gly303Val)
NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)
NM_031844.3(HNRNPU):c.1117+1G>C rs1558188078
NM_031844.3(HNRNPU):c.143_691+113del
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del) rs1680716624
NM_031844.3(HNRNPU):c.1743+1G>A rs2102985855
NM_031844.3(HNRNPU):c.2168-1del rs2102985115
NM_031844.3(HNRNPU):c.669_691+32del
NM_031844.3(HNRNPU):c.803+2T>C rs112081356
NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe)
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser) rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) rs1556049714
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr) rs2147318633
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys) rs1164997707
NM_152743.4(BRAT1):c.1016-1G>C
NM_152743.4(BRAT1):c.1135-1G>T
NM_152743.4(BRAT1):c.1322-2A>G rs2128390167
NM_152743.4(BRAT1):c.1371_1395+16del rs1224820591
NM_152743.4(BRAT1):c.1395+2T>A rs1779105755
NM_152743.4(BRAT1):c.1499-1G>T rs1778987915
NM_152743.4(BRAT1):c.1598-1G>A
NM_152743.4(BRAT1):c.1710del (p.Gln571fs) rs756489141
NM_152743.4(BRAT1):c.283-1G>A
NM_152743.4(BRAT1):c.283-2A>G
NM_152743.4(BRAT1):c.804-1G>T
NM_152743.4(BRAT1):c.924-1G>A
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1023+2T>C
NM_172107.4(KCNQ2):c.1024-2A>C rs1057516104
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu) rs2080907267
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg) rs2145680143
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1301+2T>G
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
NM_172107.4(KCNQ2):c.1302-1G>A
NM_172107.4(KCNQ2):c.1302-1G>T
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val) rs2145547478
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser) rs2080210194
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro) rs1057517919
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp) rs796052654
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu) rs1057516123
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173
NM_172107.4(KCNQ2):c.1764-1G>A
NM_172107.4(KCNQ2):c.1887+2del
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.296+2T>C
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del) rs1064795435
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His) rs2081442073
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.387+2T>C rs2145789008
NM_172107.4(KCNQ2):c.388-1G>A rs6089914
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala) rs2145779552
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
NM_172107.4(KCNQ2):c.514+1G>A rs2145778708
NM_172107.4(KCNQ2):c.514+2T>C
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp) rs2145775614
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro) rs796052621
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val) rs2145774563
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met) rs2081358317
NM_172107.4(KCNQ2):c.690+1G>A rs2145774426
NM_172107.4(KCNQ2):c.690+2_690+19del
NM_172107.4(KCNQ2):c.691-1G>A rs2145736858
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys) rs796052631
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys) rs2081187047
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp) rs118192209
NM_172107.4(KCNQ2):c.816+2T>G
NM_172107.4(KCNQ2):c.817-1G>A rs2145719805
NM_172107.4(KCNQ2):c.817-2A>G
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn) rs1600755607
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe) rs780872303
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met) rs1272165811
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu) rs1600755429
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser) rs2081099858
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys) rs1057516100
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu) rs864321707
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile) rs2145712541
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr) rs2145712459
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)
NM_177550.5(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) rs2150964787
NM_177550.5(SLC13A5):c.1438-2A>G
NM_177550.5(SLC13A5):c.232-2A>G rs1973878360
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.839+1G>A rs1973697345
NM_177550.5(SLC13A5):c.840-2A>G
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.3247+2T>G
NM_203446.3(SYNJ1):c.3430+1G>A rs2145769010
NM_203446.3(SYNJ1):c.3478+1G>A rs1085307987
NM_203446.3(SYNJ1):c.3589-1G>A
NM_203446.3(SYNJ1):c.789+1G>A rs2042124608

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