| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 16-10032131-C-T | GRIN2A | c.692G>A | p.Cys231Tyr | Missense | 4/14 | - |
| 16-1254369-C-T | CACNA1H | c.2362C>T | p.Arg788Cys | Missense | 10/34 | - |
| 16-9923442-G-T | GRIN2A | c.1845C>A | p.Asn615Lys | Missense | 10/14 | - |
| 2-166012375-C-T | SCN3A | c.1070G>A | p.Arg357Gln | Missense | 10/28 | - |
| 20-47991056-G-T | KCNB1 | c.1041C>A | p.Ser347Arg | Missense | 2/2 | - |
| 9-138662820-G-C | KCNT1 | c.1887G>C | p.Lys629Asn | Missense | 18/31 | - |
| 9-138660702-G-A | KCNT1 | c.1429G>A | p.Ala477Thr | Missense | 15/31 | - |
| 16-9923333-A-C | GRIN2A | c.1954T>G | p.Phe652Val | Missense | 10/14 | - |
| 8-133187719-T-C | KCNQ3 | c.914A>G | p.Asp305Gly | Missense | 5/15 | - |
| 2-166153563-C-T | SCN2A | c.304C>T | p.Arg102* | Nonsense | 3/27 | - |
| 2-167136962-T-C | SCN9A | c.2215A>G | p.Ile739Val | Missense | 14/27 | - |
| 9-140056657-C-T | GRIN1 | c.1666C>T | p.Gln556* | Nonsense | 12/20 | - |
| 19-13428054-C-T | CACNA1A | c.1430G>A | p.Arg477His | Missense | 11/48 | - |
| 1-111146191-G-A | KCNA2 | c.1214C>T | p.Pro405Leu | Missense | 3/3 | - |
| 9-138650311-G-T | KCNT1 | c.811G>T | p.Val271Phe | Missense | 10/31 | - |
| 19-35524448-C-T | SCN1B | c.253C>T | p.Arg85Cys | Missense | 3/6 | - |
| 16-1255153-G-A | CACNA1H | c.2491G>A | p.Val831Met | Missense | 11/34 | - |
| 20-62076065-G-A | KCNQ2 | c.637C>T | p.Arg213Trp | Missense | 4/8 | - |
| 1-111146617-A-G | KCNA2 | c.788T>C | p.Ile263Thr | Missense | 3/3 | - |
| 20-62076635-C-T | KCNQ2 | c.470G>A | p.Trp157* | Nonsense | 3/8 | - |
| 9-138660693-C-T | KCNT1 | c.1420C>T | p.Arg474Cys | Missense | 15/31 | - |
| 9-138670627-G-A | KCNT1 | c.2688G>A | p.Met896Ile | Missense | 23/31 | - |
| 8-27327432-G-A | CHRNA2 | c.140C>T | p.Thr47Met | Missense | 3/7 | - |
| 1-154544222-T-C | CHRNB2 | c.923T>C | p.Val308Ala | Missense | 5/6 | - |
| 16-1251993-C-T | CACNA1H | c.1543C>T | p.His515Tyr | Missense | 9/34 | - |
| 15-27017906-C-T | GABRB3 | c.94G>A | p.Gly32Arg | Missense | 2/9 | - |
| 9-2718593-T-G | KCNV2 | c.854T>G | p.Met285Arg | Missense | 1/2 | - |
| 20-62078131-T-C | KCNQ2 | c.356A>G | p.Glu119Gly | Missense | 2/8 | - |
| 12-13761703-T-A | GRIN2B | c.1844A>T | p.Asn615Ile | Missense | 9/13 | - |
| 5-45695897-G-A | HCN1 | c.299C>T | p.Ser100Phe | Missense | 1/8 | - |
| 20-47990964-A-G | KCNB1 | c.1133T>C | p.Val378Ala | Missense | 2/2 | - |
| 15-26866594-T-C | GABRB3 | c.328A>G | p.Asn110Asp | Missense | 4/9 | - |
| 16-9857650-C-T | GRIN2A | c.3751G>A | p.Asp1251Asn | Missense | 14/14 | - |
| 20-62073835-G-T | KCNQ2 | c.740C>A | p.Ser247* | Nonsense | 5/8 | - |
| 20-62073835-G-C | KCNQ2 | c.740C>G | p.Ser247Trp | Missense | 5/8 | - |
| 16-9862854-T-C | GRIN2A | c.2449A>G | p.Met817Val | Missense | 13/14 | - |
| 20-62076082-C-T | KCNQ2 | c.620G>A | p.Arg207Gln | Missense | 4/8 | - |
| 20-62071009-C-T | KCNQ2 | c.869G>A | p.Gly290Asp | Missense | 6/8 | - |
| 16-10032272-A-C | GRIN2A | c.551T>G | p.Ile184Ser | Missense | 4/14 | - |
| 3-184076765-C-T | CLCN2 | c.218G>A | p.Arg73His | Missense | 2/24 | - |
| 9-140056636-A-C | GRIN1 | c.1645A>C | p.Ser549Arg | Missense | 12/20 | - |
| 3-184076576-G-T | CLCN2 | c.246C>A | p.Phe82Leu | Missense | 3/24 | - |
| 8-133186541-C-A | KCNQ3 | c.989G>T | p.Arg330Leu | Missense | 6/15 | - |
| 16-1256126-G-A | CACNA1H | c.2626G>A | p.Ala876Thr | Missense | 12/34 | - |
| 11-17793600-G-A | KCNC1 | c.959G>A | p.Arg320His | Missense | 2/2 | - |
| 8-133141790-G-A | KCNQ3 | c.2338C>T | p.Arg780Cys | Missense | 15/15 | - |
| 2-167142893-C-T | SCN9A | c.1555G>A | p.Glu519Lys | Missense | 11/27 | - |
| 5-161569244-C-T | GABRG2 | c.844C>T | p.Pro282Ser | Missense | 7/9 | - |
| 12-52200120-G-A | SCN8A | c.4850G>A | p.Arg1617Gln | Missense | 27/27 | - |
| 5-161580257-G-A | GABRG2 | c.1287G>A | p.Trp429* | Nonsense | 9/9 | - |
| 16-9892154-CAAGGC-C | GRIN2A | c.2334_2338delCTTGC | p.Leu779Serfs*5 | Frameshift | 12/14 | - |
| 16-9934516-GAAG-G | GRIN2A | c.1639_1641delTCT | p.Ser547delSer | InFrameDeletion | 8/14 | - |
| 15-26806245-G-A | GABRB3 | c.914C>T | p.Ala305Val | Missense | 8/9 | - |
| 9-140057118-A-C | GRIN1 | c.1940A>C | p.Tyr647Ser | Missense | 14/20 | - |
| 12-52200885-G-A | SCN8A | c.5615G>A | p.Arg1872Gln | Missense | 27/27 | - |
| 16-1261517-G-A | CACNA1H | c.4387G>A | p.Asp1463Asn | Missense | 23/34 | - |
| 16-1257314-G-A | CACNA1H | c.2947G>A | p.Gly983Ser | Missense | 14/34 | - |
| 1-154548333-C-G | CHRNB2 | c.1434C>G | p.Phe478Leu | Missense | 6/6 | - |
| 1-154548333-C-A | CHRNB2 | c.1434C>A | p.Phe478Leu | Missense | 6/6 | - |
| 19-35523464-G-A | SCN1B | c.73G>A | p.Asp25Asn | Missense | 2/6 | - |
| 5-161113333-C-T | GABRA6 | c.136C>T | p.Arg46Trp | Missense | 2/9 | - |
| 12-52200884-C-T | SCN8A | c.5614C>T | p.Arg1872Trp | Missense | 27/27 | - |
| 16-9934513-C-T | GRIN2A | c.1642G>A | p.Ala548Thr | Missense | 8/14 | - |
| 5-161524845-C-G | GABRG2 | c.529C>G | p.Arg177Gly | Missense | 4/9 | - |
| 20-62076080-T-C | KCNQ2 | c.622A>G | p.Met208Val | Missense | 4/8 | - |
| 20-47990849-G-T | KCNB1 | c.1248C>A | p.Phe416Leu | Missense | 2/2 | - |
| 1-154548331-T-C | CHRNB2 | c.1432T>C | p.Phe478Leu | Missense | 6/6 | - |
| 9-138651532-G-A | KCNT1 | c.862G>A | p.Gly288Ser | Missense | 11/31 | - |
| 16-9923279-C-T | GRIN2A | c.2007+1G>A | - | IntronicSNV | - | 10/13 |
| 9-138671246-C-T | KCNT1 | c.2771C>T | p.Pro924Leu | Missense | 24/31 | - |
| 15-26806254-T-C | GABRB3 | c.905A>G | p.Tyr302Cys | Missense | 8/9 | - |
| 16-1251945-G-A | CACNA1H | c.1495G>A | p.Gly499Ser | Missense | 9/34 | - |
| 20-62065223-G-C | KCNQ2 | c.1057C>G | p.Arg353Gly | Missense | 8/8 | - |
| 5-161531032-G-C | GABRG2 | c.769G>C | p.Gly257Arg | Missense | 6/9 | - |
| 5-45696056-C-A | HCN1 | c.140G>T | p.Gly47Val | Missense | 1/8 | - |
| 10-78850191-T-C | KCNMA1 | c.1301A>G | p.Asp434Gly | Missense | 10/27 | - |
| 2-167138296-T-C | SCN9A | c.1964A>G | p.Lys655Arg | Missense | 13/27 | - |
| 2-166019128-T-C | SCN3A | c.905A>G | p.Asn302Ser | Missense | 8/28 | - |
| 19-35524401-A-C | SCN1B | c.208-2A>C | - | IntronicSNV | - | 2/5 |
| 16-9858691-T-A | GRIN2A | c.2710A>T | p.Ile904Phe | Missense | 14/14 | - |
| 16-9916176-T-C | GRIN2A | c.2113A>G | p.Met705Val | Missense | 11/14 | - |
| 5-45396623-C-G | HCN1 | c.1201G>C | p.Asp401His | Missense | 4/8 | - |
| 9-138650285-G-A | KCNT1 | c.785G>A | p.Arg262Gln | Missense | 10/31 | - |
| 16-9984857-G-A | GRIN2A | c.1108C>T | p.Arg370Trp | Missense | 5/14 | - |
| 20-61981885-G-A | CHRNA4 | c.878C>T | p.Thr293Ile | Missense | 5/6 | - |
| 5-161522561-T-C | GABRG2 | c.320T>C | p.Ile107Thr | Missense | 3/9 | - |
| 5-161580138-C-T | GABRG2 | c.1168C>T | p.Gln390* | Nonsense | 9/9 | - |
| 5-161522557-G-A | GABRG2 | c.316G>A | p.Ala106Thr | Missense | 3/9 | - |
| 16-9923342-G-C | GRIN2A | c.1945C>G | p.Leu649Val | Missense | 10/14 | - |
| 16-10031940-C-T | GRIN2A | c.883G>A | p.Gly295Ser | Missense | 4/14 | - |
| 5-161531032-G-A | GABRG2 | c.769G>A | p.Gly257Arg | Missense | 6/9 | - |
| 16-9857574-G-C | GRIN2A | c.3827C>G | p.Ala1276Gly | Missense | 14/14 | - |
| 2-167099128-C-G | SCN9A | c.3478G>C | p.Glu1160Gln | Missense | 19/27 | - |
| 9-138667192-C-G | KCNT1 | c.2280C>G | p.Ile760Met | Missense | 20/31 | - |
| 8-133187704-C-A | KCNQ3 | c.929G>T | p.Gly310Val | Missense | 5/15 | - |
| 20-62076634-C-T | KCNQ2 | c.471G>A | p.Trp157* | Nonsense | 3/8 | - |
| 9-138670626-T-A | KCNT1 | c.2687T>A | p.Met896Lys | Missense | 23/31 | - |
| 20-47990976-G-A | KCNB1 | c.1121C>T | p.Thr374Ile | Missense | 2/2 | - |
| 19-48919333-C-G | GRIN2D | c.1656C>G | p.Phe552Leu | Missense | 7/13 | - |
| 19-48919333-C-A | GRIN2D | c.1656C>A | p.Phe552Leu | Missense | 7/13 | - |
| 20-47990896-C-T | KCNB1 | c.1201G>A | p.Gly401Arg | Missense | 2/2 | - |
| 9-140056638-C-G | GRIN1 | c.1647C>G | p.Ser549Arg | Missense | 12/20 | - |
| 16-1252303-C-T | CACNA1H | c.1853C>T | p.Pro618Leu | Missense | 9/34 | - |
| 5-160972234-A-G | GABRB2 | c.236T>C | p.Met79Thr | Missense | 4/10 | - |
| 2-166229841-G-A | SCN2A | c.3956G>A | p.Arg1319Gln | Missense | 21/27 | - |
| 12-52145307-C-T | SCN8A | c.2300C>T | p.Thr767Ile | Missense | 14/27 | - |
| 16-1260082-G-C | CACNA1H | c.3792G>C | p.Gln1264His | Missense | 18/34 | - |
| 9-140056638-C-A | GRIN1 | c.1647C>A | p.Ser549Arg | Missense | 12/20 | - |
| 12-14019004-C-G | GRIN2B | c.139G>C | p.Glu47Gln | Missense | 2/13 | - |
| 5-161520962-A-G | GABRG2 | c.236A>G | p.Asn79Ser | Missense | 2/9 | - |
| 16-10274033-G-C | GRIN2A | c.236C>G | p.Pro79Arg | Missense | 3/14 | - |
| 20-62076112-A-G | KCNQ2 | c.590T>C | p.Leu197Pro | Missense | 4/8 | - |
| 4-47408723-C-T | GABRB1 | c.860C>T | p.Thr287Ile | Missense | 8/9 | - |
| 15-26812796-A-T | GABRB3 | c.767T>A | p.Leu256Gln | Missense | 7/9 | - |
| 1-1959699-G-A | GABRD | c.659G>A | p.Arg220His | Missense | 6/9 | - |
| 2-166012385-T-G | SCN3A | c.1060A>C | p.Lys354Gln | Missense | 10/28 | - |
| 8-27320834-G-A | CHRNA2 | c.1126C>T | p.Arg376Trp | Missense | 6/7 | - |
| 20-62065204-G-T | KCNQ2 | c.1076C>A | p.Thr359Lys | Missense | 8/8 | - |
| 1-154541978-T-A | CHRNB2 | c.105T>A | p.His35Gln | Missense | 2/6 | - |
| 19-35524449-G-A | SCN1B | c.254G>A | p.Arg85His | Missense | 3/6 | - |
| 9-138675924-G-A | KCNT1 | c.2896G>A | p.Ala966Thr | Missense | 25/31 | - |
| 16-10031822-A-T | GRIN2A | c.1001T>A | p.Leu334* | Nonsense | 4/14 | - |
| 19-610364-G-A | HCN2 | c.1543G>A | p.Glu515Lys | Missense | 5/8 | - |
| 14-63417240-C-T | KCNH5 | c.980G>A | p.Arg327His | Missense | 7/11 | - |
| 20-62070004-G-A | KCNQ2 | c.997C>T | p.Arg333Trp | Missense | 7/8 | - |
| 20-62076062-G-A | KCNQ2 | c.640C>T | p.Arg214Trp | Missense | 4/8 | - |
| 8-133141666-T-C | KCNQ3 | c.2462A>G | p.Asn821Ser | Missense | 15/15 | - |
| 5-45462069-C-G | HCN1 | c.890G>C | p.Arg297Thr | Missense | 3/8 | - |
| 7-150649785-C-G | KCNH2 | c.1285G>C | p.Ala429Pro | Missense | 6/15 | - |
| 2-166231210-C-T | SCN2A | c.3988C>T | p.Leu1330Phe | Missense | 22/27 | - |
| 16-9943635-A-G | GRIN2A | c.1306T>C | p.Cys436Arg | Missense | 6/14 | - |
| 8-133187738-C-T | KCNQ3 | c.895G>A | p.Glu299Lys | Missense | 5/15 | - |
| 4-47405630-T-C | GABRB1 | c.737T>C | p.Phe246Ser | Missense | 7/9 | - |
| 5-161576158-C-T | GABRG2 | c.967C>T | p.Arg323Trp | Missense | 8/9 | - |
| 15-26828484-T-C | GABRB3 | c.539A>G | p.Glu180Gly | Missense | 5/9 | - |
| 7-120373051-G-A | KCND2 | c.1210G>A | p.Val404Met | Missense | 2/6 | - |
| 19-590322-C-T | HCN2 | c.377C>T | p.Ser126Leu | Missense | 1/8 | - |
| 8-27321124-A-T | CHRNA2 | c.836T>A | p.Ile279Asn | Missense | 6/7 | - |
| 20-62076115-G-A | KCNQ2 | c.587C>T | p.Ala196Val | Missense | 4/8 | - |
| 16-9916208-A-G | GRIN2A | c.2081T>C | p.Ile694Thr | Missense | 11/14 | - |
| 9-138671272-C-G | KCNT1 | c.2797C>G | p.Arg933Gly | Missense | 24/31 | - |
| 1-154544158-G-T | CHRNB2 | c.859G>T | p.Val287Leu | Missense | 5/6 | - |
| 19-35524568-C-T | SCN1B | c.373C>T | p.Arg125Cys | Missense | 3/6 | - |
| 20-62065229-G-C | KCNQ2 | c.1051C>G | p.Leu351Val | Missense | 8/8 | - |
| 20-62065229-G-A | KCNQ2 | c.1051C>T | p.Leu351Phe | Missense | 8/8 | - |
| 1-154544158-G-A | CHRNB2 | c.859G>A | p.Val287Met | Missense | 5/6 | - |
| 1-154544158-G-C | CHRNB2 | c.859G>C | p.Val287Leu | Missense | 5/6 | - |
| 9-138669220-T-C | KCNT1 | c.2386T>C | p.Tyr796His | Missense | 21/31 | - |
| 19-13368235-C-A | CACNA1A | c.4531G>T | p.Ala1511Ser | Missense | 28/48 | - |
| 19-13414398-C-T | CACNA1A | c.2137G>A | p.Ala713Thr | Missense | 17/48 | - |
| 16-1251888-G-A | CACNA1H | c.1438G>A | p.Ala480Thr | Missense | 9/34 | - |
| 16-1262129-AG-CC | CACNA1H | c.4750_4751delAGinsCC | p.Arg1584Pro | Missense | 25/34 | - |
| 16-10031954-G-A | GRIN2A | c.869C>T | p.Ala290Val | Missense | 4/14 | - |
| 9-138650269-C-G | KCNT1 | c.769C>G | p.His257Asp | Missense | 10/31 | - |
| 20-47991181-G-A | KCNB1 | c.916C>T | p.Arg306Cys | Missense | 2/2 | - |
| 16-10032095-G-A | GRIN2A | c.728C>T | p.Ala243Val | Missense | 4/14 | - |
| 15-26806246-C-T | GABRB3 | c.913G>A | p.Ala305Thr | Missense | 8/9 | - |
| 9-140058120-G-A | GRIN1 | c.2443G>A | p.Gly815Arg | Missense | 17/20 | - |
| 20-62070997-G-A | KCNQ2 | c.881C>T | p.Ala294Val | Missense | 6/8 | - |
| 20-62070997-G-C | KCNQ2 | c.881C>G | p.Ala294Gly | Missense | 6/8 | - |
| 19-48922979-G-A | GRIN2D | c.1999G>A | p.Val667Ile | Missense | 9/13 | - |
| 16-9934638-A-G | GRIN2A | c.1517T>C | p.Val506Ala | Missense | 8/14 | - |
| 16-1259176-G-A | CACNA1H | c.3508G>A | p.Glu1170Lys | Missense | 17/34 | - |
| 5-161520973-C-T | GABRG2 | c.247C>T | p.Pro83Ser | Missense | 2/9 | - |
| 7-150645949-G-A | KCNH2 | c.2587C>T | p.Arg863* | Nonsense | 10/15 | - |
| 1-111146536-A-C | KCNA2 | c.869T>G | p.Leu290Arg | Missense | 3/3 | - |
| 20-47991162-C-T | KCNB1 | c.935G>A | p.Arg312His | Missense | 2/2 | - |
| 16-9943820-T-C | GRIN2A | c.1123-2A>G | - | IntronicSNV | - | 5/13 |
| 16-9892176-T-C | GRIN2A | c.2314A>G | p.Lys772Glu | Missense | 12/14 | - |
| 5-45645301-G-A | HCN1 | c.835C>T | p.His279Tyr | Missense | 2/8 | - |
| 16-1268456-AGG-CAT | CACNA1H | c.5674_5676delAGGinsCAT | p.Arg1892His | Missense | 32/34 | - |
| 1-147380563-T-C | GJA8 | c.481T>C | p.Phe161Leu | Missense | 2/2 | - |
| 19-35524569-G-T | SCN1B | c.374G>T | p.Arg125Leu | Missense | 3/6 | - |
| 20-62076101-G-A | KCNQ2 | c.601C>T | p.Arg201Cys | Missense | 4/8 | - |
| 1-111146511-C-A | KCNA2 | c.894G>T | p.Leu298Phe | Missense | 3/3 | - |
| 19-610401-G-A | HCN2 | c.1580G>A | p.Arg527Gln | Missense | 5/8 | - |
| 19-35530571-A-T | SCN1B | c.623A>T | p.Lys208Ile | Missense | 5/6 | - |
| 8-133186511-C-A | KCNQ3 | c.1019G>T | p.Gly340Val | Missense | 6/15 | - |
| 9-140058246-G-A | GRIN1 | c.2479G>A | p.Gly827Arg | Missense | 18/20 | - |
| 9-138675877-G-A | KCNT1 | c.2849G>A | p.Arg950Gln | Missense | 25/31 | - |
| 1-147380947-A-C | GJA8 | c.865A>C | p.Thr289Pro | Missense | 2/2 | - |
| 1-147380947-A-G | GJA8 | c.865A>G | p.Thr289Ala | Missense | 2/2 | - |
| 20-62076083-G-A | KCNQ2 | c.619C>T | p.Arg207Trp | Missense | 4/8 | - |
| 5-161576218-T-C | GABRG2 | c.1027T>C | p.Phe343Leu | Missense | 8/9 | - |
| 8-133182674-G-A | KCNQ3 | c.1142C>T | p.Ala381Val | Missense | 8/15 | - |
| 9-140057101-G-A | GRIN1 | c.1923G>A | p.Met641Ile | Missense | 14/20 | - |
| 12-52162699-C-G | SCN8A | c.2952C>G | p.Asn984Lys | Missense | 17/27 | - |
| 16-1254271-G-A | CACNA1H | c.2264G>A | p.Gly755Asp | Missense | 10/34 | - |
| 12-13768544-ACA-AAG | GRIN2B | c.1381_1383delTGTinsAAG | p.Cys461Lys | Missense | 6/13 | - |
| 2-166166889-A-G | SCN2A | c.754A>G | p.Met252Val | Missense | 7/27 | - |
| 2-167163041-G-T | SCN9A | c.446C>A | p.Pro149Gln | Missense | 4/27 | - |
| 9-138650308-C-G | KCNT1 | c.808C>G | p.Gln270Glu | Missense | 10/31 | - |
| 20-62070962-C-T | KCNQ2 | c.916G>A | p.Ala306Thr | Missense | 6/8 | - |
| 5-161576279-G-A | GABRG2 | c.1088G>A | p.Arg363Gln | Missense | 8/9 | - |
| 2-167142979-C-T | SCN9A | c.1469G>A | p.Ser490Asn | Missense | 11/27 | - |
| 5-161520844-C-T | GABRG2 | c.118C>T | p.Gln40* | Nonsense | 2/9 | - |
| 19-35524511-A-T | SCN1B | c.316A>T | p.Ile106Phe | Missense | 3/6 | - |
| 9-138657034-G-A | KCNT1 | c.1193G>A | p.Arg398Gln | Missense | 12/31 | - |
| 8-133186542-G-A | KCNQ3 | c.988C>T | p.Arg330Cys | Missense | 6/15 | - |
| 16-1251816-T-A | CACNA1H | c.1366T>A | p.Cys456Ser | Missense | 9/34 | - |
| 12-52200572-A-G | SCN8A | c.5302A>G | p.Asn1768Asp | Missense | 27/27 | - |
| 3-50402595-A-G | CACNA2D2 | c.3119T>C | p.Leu1040Pro | Missense | 36/38 | - |
| 19-13566019-C-G | CACNA1A | c.301G>C | p.Glu101Gln | Missense | 2/48 | - |
| 1-1959698-C-T | GABRD | c.658C>T | p.Arg220Cys | Missense | 6/9 | - |
| 20-62076067-T-C | KCNQ2 | c.635A>G | p.Asp212Gly | Missense | 4/8 | - |
| 16-1252393-C-T | CACNA1H | c.1943C>T | p.Pro648Leu | Missense | 9/34 | - |
| 15-26812818-G-T | GABRB3 | c.745C>A | p.Gln249Lys | Missense | 7/9 | - |
| 9-138657552-G-A | KCNT1 | c.1283G>A | p.Arg428Gln | Missense | 13/31 | - |
| 20-62065195-T-C | KCNQ2 | c.1085A>G | p.Tyr362Cys | Missense | 8/8 | - |
| 2-167138208-T-C | SCN9A | c.2052A>G | p.Ile684Met | Missense | 13/27 | - |
| 16-1254357-G-A | CACNA1H | c.2350G>A | p.Gly784Ser | Missense | 10/34 | - |
| 20-62065250-A-T | KCNQ2 | c.1030T>A | p.Trp344Arg | Missense | 8/8 | - |
| 20-62065250-A-G | KCNQ2 | c.1030T>C | p.Trp344Arg | Missense | 8/8 | - |
| 20-62076674-C-T | KCNQ2 | c.431G>A | p.Arg144Gln | Missense | 3/8 | - |
| 20-62071027-T-C | KCNQ2 | c.851A>G | p.Tyr284Cys | Missense | 6/8 | - |
| 3-184075476-C-T | CLCN2 | c.704G>A | p.Arg235Gln | Missense | 7/24 | - |
| 20-62076100-C-T | KCNQ2 | c.602G>A | p.Arg201His | Missense | 4/8 | - |
| 16-1251924-C-T | CACNA1H | c.1474C>T | p.Pro492Ser | Missense | 9/34 | - |
| 15-26825603-T-A | GABRB3 | c.545A>T | p.Tyr182Phe | Missense | 6/9 | - |
| 12-52200885-G-T | SCN8A | c.5615G>T | p.Arg1872Leu | Missense | 27/27 | - |
| 2-167141016-T-A | SCN9A | c.1921A>T | p.Asn641Tyr | Missense | 12/27 | - |
| 2-166165261-C-T | SCN2A | c.562C>T | p.Arg188Trp | Missense | 5/27 | - |
| 8-133192493-G-A | KCNQ3 | c.688C>T | p.Arg230Cys | Missense | 4/15 | - |
| 20-62076089-T-C | KCNQ2 | c.613A>G | p.Ile205Val | Missense | 4/8 | - |
| 20-47990849-G-C | KCNB1 | c.1248C>G | p.Phe416Leu | Missense | 2/2 | - |
| 16-10274179-A-AA | GRIN2A | c.90dupT | p.Pro31Serfs*107 | Frameshift | 3/14 | - |
| 20-61981912-G-A | CHRNA4 | c.851C>T | p.Ser284Leu | Missense | 5/6 | - |
| 7-150649592-T-A | KCNH2 | c.1478A>T | p.Tyr493Phe | Missense | 6/15 | - |
| 15-26828514-A-C | GABRB3 | c.509T>G | p.Leu170Arg | Missense | 5/9 | - |
| 5-161528238-T-G | GABRG2 | c.549-3T>G | - | IntronicSNV | - | 4/8 |
| 16-9858604-C-T | GRIN2A | c.2797G>A | p.Asp933Asn | Missense | 14/14 | - |
| 9-140057128-C-G | GRIN1 | c.1950C>G | p.Asn650Lys | Missense | 14/20 | - |
| 12-13761694-AC-CA | GRIN2B | c.1852_1853delGTinsCA | p.Val618Gln | Missense | 9/13 | - |
| 3-184076853-C-G | CLCN2 | c.130G>C | p.Gly44Arg | Missense | 2/24 | - |
| 16-9916149-C-T | GRIN2A | c.2140G>A | p.Glu714Lys | Missense | 11/14 | - |
| 9-140058211-G-T | GRIN1 | c.2444G>T | p.Gly815Val | Missense | 18/20 | - |
| 20-47990962-C-T | KCNB1 | c.1135G>A | p.Gly379Arg | Missense | 2/2 | - |
| 19-35524558-C-G | SCN1B | c.363C>G | p.Cys121Trp | Missense | 3/6 | - |
| 19-35523474-C-T | SCN1B | c.83C>T | p.Thr28Ile | Missense | 2/6 | - |
| X-10182056-G-C | CLCN4 | c.1630G>C | p.Val544Leu | Missense | 9/11 | - |
| X-10182056-G-A | CLCN4 | c.1630G>A | p.Val544Ile | Missense | 9/11 | - |
| 1-154541978-T-G | CHRNB2 | c.105T>G | p.His35Gln | Missense | 2/6 | - |
| 20-47990851-A-G | KCNB1 | c.1246T>C | p.Phe416Leu | Missense | 2/2 | - |
| 5-161569311-G-A | GABRG2 | c.911G>A | p.Arg304Lys | Missense | 7/9 | - |
| 2-166243391-C-G | SCN2A | c.4687C>G | p.Leu1563Val | Missense | 26/27 | - |
| 3-184076853-C-T | CLCN2 | c.130G>A | p.Gly44Arg | Missense | 2/24 | - |
| X-10182090-C-T | CLCN4 | c.1664C>T | p.Ala555Val | Missense | 9/11 | - |
| 20-62070034-G-A | KCNQ2 | c.967C>T | p.Gln323* | Nonsense | 7/8 | - |
| 1-154544235-C-G | CHRNB2 | c.936C>G | p.Ile312Met | Missense | 5/6 | - |
| 20-62070003-C-T | KCNQ2 | c.998G>A | p.Arg333Gln | Missense | 7/8 | - |
| 5-161520971-G-A | GABRG2 | c.245G>A | p.Arg82Gln | Missense | 2/9 | - |
| 7-150671861-A-G | KCNH2 | c.245T>C | p.Ile82Thr | Missense | 2/15 | - |
| 20-62076064-C-T | KCNQ2 | c.638G>A | p.Arg213Gln | Missense | 4/8 | - |
| 8-133146616-G-T | KCNQ3 | c.1720C>A | p.Pro574Thr | Missense | 13/15 | - |
| 1-147380565-T-A | GJA8 | c.483T>A | p.Phe161Leu | Missense | 2/2 | - |
| 8-133146616-G-A | KCNQ3 | c.1720C>T | p.Pro574Ser | Missense | 13/15 | - |
| 15-26866564-C-T | GABRB3 | c.358G>A | p.Asp120Asn | Missense | 4/9 | - |
| 1-147380565-T-G | GJA8 | c.483T>G | p.Phe161Leu | Missense | 2/2 | - |
| 16-9928084-G-C | GRIN2A | c.1655C>G | p.Pro552Arg | Missense | 9/14 | - |
| 5-161576159-G-A | GABRG2 | c.968G>A | p.Arg323Gln | Missense | 8/9 | - |
| 20-62070967-GAAG-G | KCNQ2 | c.913_915delTTC | p.Phe305delPhe | InFrameDeletion | 6/8 | - |
| 16-1254238-G-A | CACNA1H | c.2231G>A | p.Arg744Gln | Missense | 10/34 | - |
| 20-62073763-C-A | KCNQ2 | c.812G>T | p.Gly271Val | Missense | 5/8 | - |
| 5-161524722-C-T | GABRG2 | c.406C>T | p.Arg136* | Nonsense | 4/9 | - |
| 12-13768083-C-T | GRIN2B | c.1619G>A | p.Arg540His | Missense | 7/13 | - |
| 1-1959075-A-C | GABRD | c.530A>C | p.Glu177Ala | Missense | 5/9 | - |
| 12-13828696-C-T | GRIN2B | c.1108G>A | p.Glu370Lys | Missense | 4/13 | - |
| 16-1260082-G-T | CACNA1H | c.3792G>T | p.Gln1264His | Missense | 18/34 | - |
| 5-161576174-A-T | GABRG2 | c.983A>T | p.Lys328Met | Missense | 8/9 | - |
| 8-133184894-C-T | KCNQ3 | c.1091G>A | p.Arg364His | Missense | 7/15 | - |
| 19-48908448-G-A | GRIN2D | c.923G>A | p.Arg308His | Missense | 3/13 | - |
| 9-138657494-C-T | KCNT1 | c.1225C>T | p.Pro409Ser | Missense | 13/31 | - |
| 3-184076576-G-C | CLCN2 | c.246C>G | p.Phe82Leu | Missense | 3/24 | - |
| 9-138671275-G-A | KCNT1 | c.2800G>A | p.Ala934Thr | Missense | 24/31 | - |
| 12-13724908-AGA-A | GRIN2B | c.2011-5_2011-4delTC | - | IntronicDeletion | - | 9/12 |
| 9-138660694-G-A | KCNT1 | c.1421G>A | p.Arg474His | Missense | 15/31 | - |
| 9-138657518-C-A | KCNT1 | c.1249C>A | p.Arg417Ser | Missense | 13/31 | - |
| 2-167137081-C-T | SCN9A | c.2096G>A | p.Cys699Tyr | Missense | 14/27 | - |
| 2-166166923-C-T | SCN2A | c.788C>T | p.Ala263Val | Missense | 7/27 | - |
| 16-9934843-C-T | GRIN2A | c.1447G>A | p.Gly483Arg | Missense | 7/14 | - |
| 5-161528287-A-G | GABRG2 | c.595A>G | p.Met199Val | Missense | 5/9 | - |
| 9-138661828-A-G | KCNT1 | c.1546A>G | p.Met516Val | Missense | 16/31 | - |
| 16-9916143-C-T | GRIN2A | c.2146G>A | p.Ala716Thr | Missense | 11/14 | - |
| 16-1250296-G-A | CACNA1H | c.844G>A | p.Glu282Lys | Missense | 7/34 | - |
| 16-1251817-G-C | CACNA1H | c.1367G>C | p.Cys456Ser | Missense | 9/34 | - |
| 16-10031815-C-T | GRIN2A | c.1007+1G>A | - | IntronicSNV | - | 4/13 |
| 16-10031815-C-A | GRIN2A | c.1007+1G>T | - | IntronicSNV | - | 4/13 |
| 16-9892299-C-T | GRIN2A | c.2191G>A | p.Asp731Asn | Missense | 12/14 | - |
| 5-45645322-A-G | HCN1 | c.814T>C | p.Ser272Pro | Missense | 2/8 | - |
| 5-161531034-T-G | GABRG2 | c.769+2T>G | - | IntronicSNV | - | 6/8 |
| 16-9862869-G-T | GRIN2A | c.2434C>A | p.Leu812Met | Missense | 13/14 | - |
| 8-27321071-T-A | CHRNA2 | c.889A>T | p.Ile297Phe | Missense | 6/7 | - |
| 8-133153438-T-C | KCNQ3 | c.1403A>G | p.Asn468Ser | Missense | 10/15 | - |
| 16-9934645-G-A | GRIN2A | c.1510C>T | p.Arg504Trp | Missense | 8/14 | - |
| 9-138662818-A-G | KCNT1 | c.1885A>G | p.Lys629Glu | Missense | 18/31 | - |
| 16-9862862-A-G | GRIN2A | c.2441T>C | p.Ile814Thr | Missense | 13/14 | - |
| 20-61981940-T-A | CHRNA4 | c.823A>T | p.Ile275Phe | Missense | 5/6 | - |
| 5-160758108-T-G | GABRB2 | c.859A>C | p.Thr287Pro | Missense | 9/10 | - |
| 16-9892290-C-G | GRIN2A | c.2200G>C | p.Val734Leu | Missense | 12/14 | - |
| 16-9892311-C-T | GRIN2A | c.2179G>A | p.Ala727Thr | Missense | 12/14 | - |
| 2-167168083-T-C | SCN9A | c.184A>G | p.Ile62Val | Missense | 2/27 | - |
| 20-62073782-C-G | KCNQ2 | c.793G>C | p.Ala265Pro | Missense | 5/8 | - |
| 20-62073807-CCCCCTTCTC-C | KCNQ2 | c.765_773delGGGGGAGAA | p.Lys255_glu257del | InFrameDeletion | 5/8 | - |
| 5-161580256-G-A | GABRG2 | c.1286G>A | p.Trp429* | Nonsense | 9/9 | - |
| 1-111146515-C-T | KCNA2 | c.890G>A | p.Arg297Gln | Missense | 3/3 | - |
| 9-140058297-C-T | GRIN1 | c.2530C>T | p.Arg844Cys | Missense | 18/20 | - |
| 9-138671257-C-T | KCNT1 | c.2782C>T | p.Arg928Cys | Missense | 24/31 | - |
| 16-9923280-C-A | GRIN2A | c.2007G>T | p.Lys669Asn | Missense | 10/14 | - |
| 20-47990956-C-G | KCNB1 | c.1141G>C | p.Gly381Arg | Missense | 2/2 | - |
| 20-47990956-C-T | KCNB1 | c.1141G>A | p.Gly381Arg | Missense | 2/2 | - |
| 20-62073802-T-C | KCNQ2 | c.773A>G | p.Asn258Ser | Missense | 5/8 | - |
| 16-1250392-C-T | CACNA1H | c.940C>T | p.Pro314Ser | Missense | 7/34 | - |
| 16-1254325-G-A | CACNA1H | c.2318G>A | p.Gly773Asp | Missense | 10/34 | - |
| 12-52183134-G-A | SCN8A | c.4351G>A | p.Gly1451Ser | Missense | 24/27 | - |
| 14-63269274-AT-TG | KCNH5 | c.1594_1595delATinsTG | p.Met532Trp | Missense | 9/11 | - |
| 2-167108345-C-A | SCN9A | c.3369G>T | p.Leu1123Phe | Missense | 18/27 | - |
| 16-9916194-G-A | GRIN2A | c.2095C>T | p.Pro699Ser | Missense | 11/14 | - |
| 16-1258033-G-A | CACNA1H | c.3175G>A | p.Ala1059Thr | Missense | 16/34 | - |
| 16-9934563-G-A | GRIN2A | c.1592C>T | p.Thr531Met | Missense | 8/14 | - |
| 20-62078122-G-A | KCNQ2 | c.365C>T | p.Ser122Leu | Missense | 2/8 | - |
| 16-9858474-T-C | GRIN2A | c.2927A>G | p.Asn976Ser | Missense | 14/14 | - |
| 20-62071057-G-A | KCNQ2 | c.821C>T | p.Thr274Met | Missense | 6/8 | - |
| 2-167160752-G-C | SCN9A | c.684C>G | p.Ile228Met | Missense | 6/27 | - |
| 16-1254250-C-T | CACNA1H | c.2243C>T | p.Ala748Val | Missense | 10/34 | - |
| 8-133186580-A-G | KCNQ3 | c.950T>C | p.Ile317Thr | Missense | 6/15 | - |
| 3-184076578-A-G | CLCN2 | c.244T>C | p.Phe82Leu | Missense | 3/24 | - |
| 1-154544200-C-G | CHRNB2 | c.901C>G | p.Leu301Val | Missense | 5/6 | - |
| 12-52082594-A-G | SCN8A | c.667A>G | p.Arg223Gly | Missense | 6/27 | - |
| 2-166166916-G-A | SCN2A | c.781G>A | p.Val261Met | Missense | 7/27 | - |
| 16-9934602-C-T | GRIN2A | c.1553G>A | p.Arg518His | Missense | 8/14 | - |
| 20-61981924-G-A | CHRNA4 | c.839C>T | p.Ser280Phe | Missense | 5/6 | - |