ClinVar Miner

List of variants studied for epilepsy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 936
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172 0.00067
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) rs200007766 0.00007
NM_006922.4(SCN3A):c.5583G>C (p.Leu1861Phe) rs146618194 0.00006
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln) rs532357677 0.00005
NM_005918.4(MDH2):c.686G>A (p.Arg229Gln) rs373614243 0.00005
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg) rs796053201 0.00003
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_001040142.2(SCN2A):c.451C>T (p.Pro151Ser) rs200109956 0.00002
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys) rs1272022379 0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) rs1336849921 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001365999.1(SZT2):c.5333T>G (p.Phe1778Cys) rs771463216 0.00002
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val) rs772936641 0.00002
NM_024818.6(UBA5):c.460G>A (p.Val154Met) rs761169562 0.00002
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375 0.00001
NM_001032221.6(STXBP1):c.1360-7C>T rs895077278 0.00001
NM_001037.5(SCN1B):c.448+124G>A rs367608185 0.00001
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys) rs775923587 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val) rs764647930 0.00001
NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser) rs1697366709 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=) rs1357221237 0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs) rs779219028 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001182.5(ALDH7A1):c.491T>C (p.Ile164Thr) rs747873042 0.00001
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) rs1413596219 0.00001
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser) rs752424355 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp) rs780763318 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001271.4(CHD2):c.2507G>A (p.Arg836His) rs1429832116 0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly) rs927604763 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys) rs1234934110 0.00001
NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met) rs773129616 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001690.4(ATP6V1A):c.1031T>C (p.Val344Ala) rs1433760084 0.00001
NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile) rs1555883811 0.00001
NM_004519.4(KCNQ3):c.1582C>T (p.Arg528Cys) rs1393085163 0.00001
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln) rs1194485302 0.00001
NM_005045.4(RELN):c.1653T>A (p.Asn551Lys) rs1417611613 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NM_006922.4(SCN3A):c.2552G>A (p.Arg851Gln) rs897312933 0.00001
NM_007254.4(PNKP):c.151G>C (p.Val51Leu) rs753839317 0.00001
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138 0.00001
NM_015267.4(CUX2):c.1795C>A (p.Arg599Ser) rs200707164 0.00001
NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) rs147832660 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu) rs763585049 0.00001
NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln) rs777414554 0.00001
NM_022786.3(ARV1):c.363_364del (p.Ser122fs) rs769858809 0.00001
NM_024818.6(UBA5):c.684G>A (p.Ala228=) rs1313071575 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_130811.4(SNAP25):c.404G>A (p.Arg135His) rs1315869651 0.00001
NM_130811.4(SNAP25):c.92G>A (p.Arg31His) rs1341058084 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
GRCh37/hg19 14q12(chr14:27450705-31529481)x3
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1
GRCh37/hg19 Xp22.31(chrX:6624655-7894210)x1
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TW):m.5513G>A
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000702.4(ATP1A2):c.1021T>C (p.Cys341Arg)
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)
NM_000744.7(CHRNA4):c.479C>G (p.Ser160Cys) rs201421555
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000807.4(GABRA2):c.438del (p.Arg147fs) rs1727826275
NM_000807.4(GABRA2):c.763A>T (p.Ile255Phe)
NM_000808.4(GABRA3):c.830A>G (p.Tyr277Cys)
NM_000808.4(GABRA3):c.931+5G>A
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) rs2110051822
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly) rs2140199581
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.730G>A (p.Gly244Arg)
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.845C>G (p.Thr282Ser)
NM_000814.6(GABRB3):c.880C>T (p.Arg294Trp)
NM_000814.6(GABRB3):c.8del (p.Gly3fs) rs1891196700
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000833.3:c.(?_-310-1)_(414+1_415-1)del
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1648T>C (p.Phe550Leu)
NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=) rs1369104116
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val) rs2136629212
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe) rs2147452753
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr) rs1970995171
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp) rs2147455922
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val) rs2147475435
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu) rs1971341588
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp) rs2147478270
NM_001001521.2(UGP2):c.-15+1G>A
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs) rs1057518154
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg) rs886039435
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del) rs2132444621
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs) rs1554778657
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) rs1842044505
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs) rs2131536257
NM_001032221.6(STXBP1):c.16C>T (p.Leu6Phe)
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val) rs1840974440
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) rs1841026473
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser) rs1841136116
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)
NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro) rs2131481623
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001037.5(SCN1B):c.254G>T (p.Arg85Leu)
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.2690A>G (p.Tyr897Cys) rs1480245320
NM_001040142.2(SCN2A):c.1403C>A (p.Ser468Tyr) rs1697690842
NM_001040142.2(SCN2A):c.1450del (p.Ser484fs) rs2105259671
NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn) rs1574591292
NM_001040142.2(SCN2A):c.1728C>A (p.Ser576Arg) rs1382196994
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val) rs1559376694
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
NM_001040142.2(SCN2A):c.3736dup (p.Asp1246fs) rs1700953301
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) rs1701138696
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg)
NM_001040142.2(SCN2A):c.4252G>A (p.Val1418Ile) rs1701232747
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys) rs1701579531
NM_001040142.2(SCN2A):c.452del (p.Pro151fs) rs1697224468
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
NM_001040142.2(SCN2A):c.4606A>G (p.Ser1536Gly) rs1701898006
NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs) rs1288771812
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.393G>A (p.Arg131=)
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.547+1G>C rs1899864955
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.630-1G>A rs1899235603
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.768-2del rs1899110688
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter) rs2141920098
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala) rs1933636414
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) rs2065907185
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001110792.2(MECP2):c.63-5800_1271del
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys) rs1848764853
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) rs1443427135
NM_001127222.2(CACNA1A):c.1025C>G (p.Pro342Arg)
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.1668+519_1842del
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser) rs1982996175
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys) rs2057768031
NM_001127222.2(CACNA1A):c.3437del (p.Val1146fs)
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) rs2057333004
NM_001127222.2(CACNA1A):c.3881A>T (p.Lys1294Met)
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4078delinsAT (p.Pro1360fs)
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe) rs2055823924
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser) rs1568424111
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs) rs2144501233
NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu) rs1235870142
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu) rs1581221893
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn) rs2113354062
NM_001127644.2(GABRA1):c.328G>T (p.Val110Phe)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130438.3(SPTAN1):c.1462-2A>G
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter) rs1852298912
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs) rs1852530020
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe) rs1852827656
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg) rs150793549
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn) rs1856146384
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter) rs1856640613
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp) rs1232614751
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp) rs2130975930
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del) rs2131985621
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del) rs2132088836
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln) rs1850091477
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter) rs1555455521
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter) rs2141482042
NM_001134407.3(GRIN2A):c.1123-1G>T rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln) rs2141369514
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs) rs2141346061
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His) rs2042668320
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>C rs2141344569
NM_001134407.3(GRIN2A):c.154C>T (p.Arg52Ter)
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys) rs747838255
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs) rs2141342590
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs) rs2141342580
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val) rs1085307961
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter) rs2141342254
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr) rs1057523843
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro) rs1057523843
NM_001134407.3(GRIN2A):c.1651+1del rs2141341804
NM_001134407.3(GRIN2A):c.1655C>A (p.Pro552Gln) rs397518450
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter) rs1057521810
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs) rs2141325598
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs) rs886039604
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) rs2050235998
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) rs2141313067
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter) rs775819322
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln) rs2141312803
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly) rs1555492763
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser) rs796052545
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val) rs2141312286
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile) rs2141312277
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2007+1G>A rs2141312109
NM_001134407.3(GRIN2A):c.2007+2dup rs2141312103
NM_001134407.3(GRIN2A):c.2008-1G>T rs2141295189
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala) rs796052547
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala) rs2141294973
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp) rs2042303226
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val) rs2141294795
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs) rs2141294703
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly) rs1903135567
NM_001134407.3(GRIN2A):c.2251G>T (p.Gly751Trp)
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs) rs2141230698
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs) rs2141230279
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg) rs1903126465
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp) rs1555488084
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs) rs2141230262
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter) rs1555483728
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter) rs1198247451
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs) rs2141151209
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg) rs1064795647
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met) rs752241086
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val) rs796052551
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3365G>A (p.Gly1122Asp) rs760885908
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter) rs1555455776
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser) rs2141632382
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter) rs1555455726
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs) rs796052560
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg) rs2141631426
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs) rs2142390867
NM_001161352.2(KCNMA1):c.152C>T (p.Ser51Phe) rs2093884478
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) rs200668674
NM_001161352.2(KCNMA1):c.2993A>G (p.Asn998Ser) rs2052158751
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala) rs121917923
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs) rs2105867534
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser) rs2105862220
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) rs2105851922
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs) rs2105850165
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val) rs1696653174
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys) rs2105805621
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro) rs1696400496
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.3430-1552_3481del
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro) rs1692861040
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr) rs1553531134
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) rs2105571418
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.4284+4A>C rs1691026372
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr) rs796053010
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr) rs2105486716
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4338+5G>C rs796053011
NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)
NM_001165963.4(SCN1A):c.4417T>C (p.Phe1473Leu) rs1690331351
NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn) rs2105462657
NM_001165963.4(SCN1A):c.4581+18A>G rs1689981394
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp) rs1689679432
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) rs1698960532
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) rs1689339718
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5080T>C (p.Tyr1694His)
NM_001165963.4(SCN1A):c.5161A>C (p.Thr1721Pro)
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer) rs1689241423
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro) rs2105425720
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs) rs2105425501
NM_001165963.4(SCN1A):c.5653C>G (p.Leu1885Val) rs1689164800
NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) rs1689157351
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.603-3C>G
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) rs1698747852
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) rs796052961
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) rs1559238215
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986del (p.Gly329fs) rs1698186316
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) rs1928373723
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp) rs1928233323
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu) rs1928230109
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys) rs914370738
NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) rs2147542293
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) rs1924620442
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
NM_001199107.2(TBC1D24):c.1115C>A (p.Ser372Tyr)
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met) rs1666159827
NM_001205293.3(CACNA1E):c.5816G>T (p.Ser1939Ile) rs1661203470
NM_001205293.3(CACNA1E):c.6818G>A (p.Arg2273Gln) rs866037100
NM_001205293.3(CACNA1E):c.802T>C (p.Cys268Arg)
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs) rs2148801432
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val) rs1250427988
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
NM_001242896.3(DEPDC5):c.363+6A>G rs933571182
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.414-3C>G
NM_001242896.3(DEPDC5):c.4204-2A>G
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_001242896.3:c.(146+1_147-1)_(279+1_280-1)dup
NM_001271.4(CHD2):c.1663_1664insC (p.Trp555fs)
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del) rs2141811654
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys) rs2053619310
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala) rs1228076921
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val) rs2053935304
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala) rs2053978897
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr) rs2141861661
NM_001271.4(CHD2):c.3696_3886-11del
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val) rs1308763946
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys) rs2141761439
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001278512.2(AP3B2):c.2261+2T>C rs1555464774
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001326342.2(CELF2):c.883del (p.Ala295fs)
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) rs1942779292
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2857T>C (p.Cys953Arg)
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2901+1G>C rs1942832440
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr) rs1942878547
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg) rs1942882733
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn) rs1942883632
NM_001330260.2(SCN8A):c.3312_3372+4dup
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter) rs1555228329
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser) rs796053215
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr) rs996870199
NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu) rs1198058104
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln) rs1938732126
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=) rs1556347185
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) rs868956996
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer) rs2050407403
NM_001365999.1(SZT2):c.1858C>G (p.Leu620Val)
NM_001365999.1(SZT2):c.185G>C (p.Ser62Thr) rs2153929670
NM_001365999.1(SZT2):c.3424A>C (p.Thr1142Pro)
NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp) rs906119040
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter) rs200178393
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg) rs1645575152
NM_001371727.1(GABRB2):c.547T>C (p.Tyr183His) rs1754005209
NM_001371727.1(GABRB2):c.658A>G (p.Lys220Glu) rs1754001197
NM_001371727.1(GABRB2):c.857C>T (p.Thr286Ile) rs1753824585
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile) rs1554093884
NM_001371727.1(GABRB2):c.956C>T (p.Ala319Val)
NM_001385012.1(NBEA):c.4662+1G>C rs2070957033
NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)
NM_001394067.2(RAPGEF2):c.4958-8A>G rs1732314095
NM_001690.4(ATP6V1A):c.548G>C (p.Gly183Ala)
NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro) rs2108033397
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.1145G>C (p.Arg382Pro)
NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys) rs2145944822
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg) rs771058274
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser) rs1569180012
NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu) rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1191+1G>A rs2124930966
NM_003042.4(SLC6A1):c.1307T>A (p.Leu436His) rs2124932154
NM_003042.4(SLC6A1):c.1544G>T (p.Ser515Ile)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.182C>T (p.Ala61Val) rs2124905520
NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)
NM_003042.4(SLC6A1):c.362del (p.Met121fs)
NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser) rs769934894
NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg) rs1697440696
NM_003042.4(SLC6A1):c.866C>T (p.Ala289Val) rs1697597168
NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4(SLC6A1):c.953G>T (p.Arg318Met)
NM_003042.4:c.-153_(1078+1_1079-1)del
NM_003315.4(DNAJC7):c.1109C>T (p.Ala370Val) rs782147359
NM_003705.5(SLC25A12):c.225del (p.Glu76fs) rs1685036155
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.2257C>T (p.Pro753Ser)
NM_004408.4(DNM1):c.2266C>A (p.Pro756Thr)
NM_004408.4(DNM1):c.320G>A (p.Arg107Lys)
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) rs1826712021
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.977C>T (p.Thr326Met) rs1326172406
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) rs1569017123
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.2130del (p.Cys710fs)
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)
NM_005045.4(RELN):c.1172T>C (p.Ile391Thr)
NM_005045.4(RELN):c.9453del (p.Trp3152fs)
NM_005097.4(LGI1):c.1532T>A (p.Phe511Tyr)
NM_005097.4(LGI1):c.187del (p.Arg63fs)
NM_005097.4(LGI1):c.253G>A (p.Gly85Arg) rs2133976199
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) rs2059583625
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
NM_005097.4(LGI1):c.790G>C (p.Glu264Gln)
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.1141del (p.Ala381fs) rs2138662009
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.1256C>T (p.Pro419Leu) rs1555321437
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) rs786205000
NM_005249.5(FOXG1):c.156_160del (p.His52fs) rs1881779084
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs) rs2138660395
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.385del (p.Glu129fs) rs2138660748
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) rs1057520663
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter) rs797045583
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.506dup (p.Lys170fs) rs1452295073
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del) rs2138661060
NM_005249.5(FOXG1):c.515dup (p.Glu173fs) rs2138661058
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter) rs2138661070
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter) rs1555321301
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln) rs796052461
NM_005249.5(FOXG1):c.552dup (p.Ser185fs) rs786205004
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp) rs2138661139
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe) rs1555321308
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) rs2138661171
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter) rs796052463
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) rs1881802605
NM_005249.5(FOXG1):c.592_594del (p.Pro198del) rs2138661203
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)
NM_005249.5(FOXG1):c.611_618del (p.Leu204fs) rs2138661224
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter) rs796052464
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp) rs587783640
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter) rs2138661742
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005249.5(FOXG1):c.974dup (p.Leu325fs) rs2138661811
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_006160.4(NEUROD2):c.400A>G (p.Met134Val)
NM_006178.4(NSF):c.1078G>T (p.Gly360Cys)
NM_006178.4(NSF):c.1600A>G (p.Thr534Ala)
NM_006180.6(NTRK2):c.1634-3C>G
NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs) rs2146604738
NM_006306.4(SMC1A):c.2076del (p.Lys692fs) rs2146599361
NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.115-2A>G rs2124450950
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val) rs2124450819
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) rs1643480923
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) rs773339124
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.839T>A (p.Leu280Gln)
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.586-3C>A rs775206926
NM_006545.5(NPRL2):c.683T>C (p.Leu228Pro) rs1559856358
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs) rs2109364484
NM_006586.5(CNPY3):c.548del (p.Asn183fs)
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006759.4(UGP2):c.1419_1419+14del
NM_006772.3(SYNGAP1):c.1058T>C (p.Leu353Pro)
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer) rs1760904978
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter) rs2151170014
NM_006772.3(SYNGAP1):c.1403T>C (p.Met468Thr) rs763770519
NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp) rs2151180654
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) rs1761049027
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs) rs2151190684
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>C rs1554122402
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.3920C>A (p.Pro1307Gln) rs1175644186
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala) rs1777305165
NM_006772.3(SYNGAP1):c.718G>A (p.Asp240Asn)
NM_006922.4(SCN3A):c.1032-7C>T rs1688994875
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro) rs2105776898
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe) rs2105772689
NM_006922.4(SCN3A):c.2727A>T (p.Lys909Asn)
NM_006922.4(SCN3A):c.3092T>A (p.Phe1031Tyr) rs1687091780
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) rs755159935
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile) rs2105636234
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs) rs2105635851
NM_006922.4(SCN3A):c.481T>C (p.Phe161Leu) rs1401610497
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln) rs1199412903
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser) rs2105621618
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys) rs2105621335
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006950.3(SYN1):c.838-2A>G rs2147913419
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.311T>C (p.Leu104Pro) rs1159790949
NM_012479.4(YWHAG):c.124C>T (p.Arg42Ter) rs2115589147
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.532A>G (p.Asn178Asp)
NM_013436.5(NCKAP1):c.3348_3351del (p.Ala1115_Tyr1116insTer) rs2105795104
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser) rs2138716131
NM_014334.4(FRRS1L):c.431del (p.Val144fs) rs1831271059
NM_014777.4(URB2):c.1949del (p.Gly650fs) rs1665832767
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter) rs760437173
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs) rs1703269824
NM_014795.4(ZEB2):c.2825G>T (p.Gly942Val) rs1703257942
NM_014795.4(ZEB2):c.2973del (p.Lys992fs) rs1703231315
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter) rs1703133912
NM_014795.4(ZEB2):c.66del (p.Asn24fs) rs2149935119
NM_014795.4(ZEB2):c.71del (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln) rs730881174
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys) rs1779473213
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015178.3(RHOBTB2):c.2034C>G (p.Tyr678Ter)
NM_015213.4(DENND5A):c.1411C>T (p.Arg471Trp)
NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)
NM_015267.4(CUX2):c.4417G>A (p.Glu1473Lys)
NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His) rs1803830368
NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter) rs775696083
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg) rs2083042603
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
NM_018129.4(PNPO):c.184T>C (p.Phe62Leu) rs1598197051
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys) rs1483600034
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_020361.5(CPA6):c.619C>T (p.Gln207Ter) rs35993949
NM_020771.4(HACE1):c.402+5G>A rs1316982922
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.2323C>G (p.Pro775Ala) rs751320619
NM_020822.3(KCNT1):c.2390G>T (p.Gly797Val)
NM_020822.3(KCNT1):c.2464C>T (p.Arg822Trp) rs746067661
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2915T>A (p.Ile972Asn)
NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu) rs2143272241
NM_020988.3(GNAO1):c.303+3A>G
NM_020988.3(GNAO1):c.510del (p.Thr171fs)
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg) rs546569747
NM_021072.4(HCN1):c.1012-3C>T rs1739694635
NM_021072.4(HCN1):c.1171G>T (p.Gly391Cys)
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) rs1739691061
NM_021072.4(HCN1):c.1283G>A (p.Arg428His) rs1265198753
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) rs1746946512
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) rs1745671912
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_022080.3(NAPB):c.173G>A (p.Trp58Ter) rs1984959750
NM_022786.3(ARV1):c.292_294+1del rs1679141808
NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser) rs1468591163
NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val) rs1680764764
NM_031844.3(HNRNPU):c.1230+1G>C rs2102987091
NM_031844.3(HNRNPU):c.1614+2T>A
NM_031844.3(HNRNPU):c.1767G>C (p.Gln589His)
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
NM_052874.5(STX1B):c.205+5G>A rs2056625628
NM_052874.5(STX1B):c.345dup (p.Lys116fs)
NM_052874.5(STX1B):c.354+1G>C
NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter) rs2143661528
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_130811.4(SNAP25):c.114+2T>G rs2123019421
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu) rs2123063802
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg) rs2123063830
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser) rs2123063984
NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg) rs2123120184
NM_130811.4(SNAP25):c.176G>C (p.Arg59Pro) rs2064035728
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro) rs2064035939
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr) rs2123120544
NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr) rs1600775326
NM_130811.4(SNAP25):c.464del (p.Gly155fs) rs2123158973
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr) rs2123159234
NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly) rs2123159261
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter) rs2123159470
NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro) rs2123159524
NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr) rs2123205099
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly) rs2123205311
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val) rs2123205311
NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter) rs2123205373
NM_130811.4(SNAP25):c.72+1G>A rs2123003858
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1522G>A (p.Val508Met) rs2048670414
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) rs2147324296
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) rs1900077598
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr) rs1900112848
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn) rs1900143158
NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser) rs377345733
NM_152268.4(PARS2):c.340G>A (p.Gly114Ser) rs778638516
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) rs1938359399
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg) rs2081071796
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val) rs2080905274
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs) rs796052657
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.1756C>T (p.Gln586Ter)
NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe) rs796052617
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser) rs1057516093
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp) rs2081189736
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.776A>G (p.Asp259Gly) rs1057518489
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser) rs796052633
NM_172107.4(KCNQ2):c.816+2T>A rs2081186625
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe) rs2145712758
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro) rs1572547466
NM_198503.5(KCNT2):c.862G>T (p.Gly288Ter)
NM_198903.2:c.-61_889+60del
NM_198904.4(GABRG2):c.108-1G>T
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys) rs749946230
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063
NM_198904.4(GABRG2):c.416G>A (p.Ser139Asn) rs2113325887
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_199180.4(KIRREL2):c.1275del (p.Ala426fs) rs1335997487
Single allele

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