ClinVar Miner

List of variants reported as benign for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2616
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HGVS dbSNP gnomAD frequency
NM_015267.4(CUX2):c.4414G>C (p.Val1472Leu) rs6490073 1.00000
NM_014334.4(FRRS1L):c.-2G>C rs10979723 0.99999
NM_014334.4(FRRS1L):c.-3C>G rs10979724 0.99999
NM_000702.4(ATP1A2):c.13-22T>C rs2854246 0.99954
NM_015213.4(DENND5A):c.2858-37A>G rs10732517 0.99398
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_198503.5(KCNT2):c.3009T>C (p.Asp1003=) rs977157 0.98588
NM_001130438.3(SPTAN1):c.5085A>G (p.Leu1695=) rs1415568 0.98480
NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=) rs6032635 0.98449
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_015192.4(PLCB1):c.1889-43G>A rs993670 0.98398
NM_021927.3(GUF1):c.586-27T>A rs58659516 0.97959
NM_021927.3(GUF1):c.1715+8C>G rs12641137 0.97958
NM_021927.3(GUF1):c.586-28_586-27insA rs112232487 0.97958
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_015192.4(PLCB1):c.3279-35A>G rs2327090 0.97325
NM_001130438.3(SPTAN1):c.2163A>C (p.Ala721=) rs10760566 0.96940
NM_021927.3(GUF1):c.585+27C>T rs13117025 0.96436
NM_001367561.1(DOCK7):c.6212+19G>A rs1168007 0.96294
NM_000702.4(ATP1A2):c.495+65T>C rs2820582 0.96234
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
NM_139318.5(KCNH5):c.2577A>G (p.Arg859=) rs7161127 0.93044
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_016188.5(ACTL6B):c.*98T>A rs1052897 0.88580
NM_001330260.2(SCN8A):c.4796-38C>A rs303828 0.86075
NM_015178.3(RHOBTB2):c.296+16A>G rs2430811 0.85861
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_015178.3(RHOBTB2):c.864T>C (p.Ser288=) rs2466178 0.85310
NM_006651.4(CPLX1):c.*3G>C rs10794536 0.85261
NM_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
NM_001205293.3(CACNA1E):c.1225+78A>G rs12407563 0.84631
NM_000702.4(ATP1A2):c.1017+56G>A rs6695366 0.84545
NM_006759.4(UGP2):c.255+44G>A rs10183479 0.82824
NM_198904.4(GABRG2):c.631+1248A>G rs211035 0.82291
NM_015178.3(RHOBTB2):c.296+29G>T rs2466179 0.82262
NM_001040142.2(SCN2A):c.268-28A>G rs7593568 0.82099
NM_001040142.2(SCN2A):c.1671+49A>G rs1838846 0.82025
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_000836.4(GRIN2D):c.2697T>C (p.Ala899=) rs62130268 0.81706
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_000702.4(ATP1A2):c.1326+49dup rs5778151 0.81329
NM_001378457.1(DMXL2):c.-36A>C rs6493514 0.81214
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) rs1878583 0.81051
NM_000836.4(GRIN2D):c.3142T>C (p.Leu1048=) rs111420822 0.80040
NM_001330260.2(SCN8A):c.1135-48C>T rs2291265 0.78368
NM_005458.8(GABBR2):c.375T>G (p.Pro125=) rs2808536 0.77371
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_001330260.2(SCN8A):c.3490+20G>A rs303808 0.76481
NM_003705.5(SLC25A12):c.210-21A>G rs2056202 0.76440
NM_001271.4(CHD2):c.4414-45C>T rs12915582 0.75991
NM_001042646.3(TRAK1):c.1095A>G (p.Ser365=) rs9851455 0.75690
NM_001271.4(CHD2):c.2727+38T>G rs11074122 0.75511
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_000810.4(GABRA5):c.878-9C>A rs140684 0.74950
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74835
NM_002080.4(GOT2):c.1037T>G (p.Val346Gly) rs30842 0.74625
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.2947-41C>T rs7601520 0.73875
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_006180.6(NTRK2):c.212+40C>T rs1187326 0.72197
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_020822.3(KCNT1):c.1769+16A>G rs10776844 0.72033
NM_002080.4(GOT2):c.816C>T (p.Cys272=) rs1058192 0.71897
NM_002080.4(GOT2):c.228T>G (p.Val76=) rs14221 0.71031
NM_001042646.3(TRAK1):c.1744+77G>A rs9311309 0.70393
NM_001042646.3(TRAK1):c.364-26T>C rs4234445 0.69997
NM_002080.4(GOT2):c.213T>C (p.Asn71=) rs257636 0.69895
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64420
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001324418.2(ADAM22):c.242C>G (p.Pro81Arg) rs2279542 0.64390
NM_173728.4(ARHGEF15):c.2491T>C (p.Ser831Pro) rs3744647 0.64122
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_000810.4(GABRA5):c.606T>C (p.Val202=) rs140682 0.63947
NM_183381.3(RNF13):c.789C>T (p.His263=) rs6768054 0.63113
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_001271.4(CHD2):c.2728-53G>A rs2272461 0.62681
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.4795+1141G>A rs671255 0.62236
NM_014334.4(FRRS1L):c.710-21T>C rs10759329 0.62189
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_020988.3(GNAO1):c.464+22T>C rs2241952 0.59320
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_001205293.3(CACNA1E):c.1316-13T>C rs7540850 0.59094
NM_173728.4(ARHGEF15):c.1704+12A>G rs2270445 0.58634
NM_000702.4(ATP1A2):c.748+84T>A rs7548116 0.58333
NM_173728.4(ARHGEF15):c.830T>C (p.Leu277Pro) rs871841 0.58202
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_020822.3(KCNT1):c.600+59A>C rs59909130 0.57178
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_001040142.2(SCN2A):c.1672-16C>T rs1867864 0.56164
NM_001205293.3(CACNA1E):c.3731+56C>T rs704332 0.55277
NM_004171.4(SLC1A2):c.731-8T>C rs2273689 0.55092
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_021927.3(GUF1):c.173T>C (p.Leu58Pro) rs6447368 0.52633
NM_021927.3(GUF1):c.1872+23T>G rs6851576 0.52617
NM_001037333.3(CYFIP2):c.1110+41G>C rs393178 0.52045
NM_016373.4(WWOX):c.1056+191744T>G rs2548861 0.51877
NM_006922.4(SCN3A):c.2031A>T (p.Thr677=) rs1946892 0.51537
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=) rs10851500 0.50188
NM_001042646.3(TRAK1):c.1749C>T (p.Ser583=) rs2290134 0.49822
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
NM_001042646.3(TRAK1):c.2067-12T>C rs3733054 0.49622
NM_001042646.3(TRAK1):c.2067-41A>G rs3733053 0.49601
NM_004855.5(PIGB):c.523-33T>C rs28459661 0.49472
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro) rs12102203 0.49370
NM_004855.5(PIGB):c.896G>T (p.Trp299Leu) rs678892 0.48713
NM_000810.4(GABRA5):c.975C>T (p.Ala325=) rs140685 0.48041
NM_001165963.4(SCN1A):c.603-91G>A rs3812718 0.47979
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=) rs2278989 0.47808
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=) rs2278990 0.47740
NM_020822.3(KCNT1):c.434+25C>A rs10122976 0.47340
NM_001037333.3(CYFIP2):c.2585+9G>A rs3734028 0.47264
NM_001378457.1(DMXL2):c.8077-22C>T rs7165887 0.46698
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=) rs12592889 0.46637
NM_152743.4(BRAT1):c.128-10A>G rs2164688 0.46043
NM_152743.4(BRAT1):c.2388A>G (p.Glu796=) rs1043291 0.45840
NM_004204.5(PIGQ):c.639C>T (p.Cys213=) rs4984669 0.45828
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_152743.4(BRAT1):c.1932A>G (p.Arg644=) rs4719552 0.45541
NM_004204.5(PIGQ):c.943-77A>G rs3752568 0.45471
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_004204.5(PIGQ):c.1416+142T>G rs2071982 0.45406
NM_004204.5(PIGQ):c.1416+104C>T rs7192508 0.45399
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala) rs2071979 0.45338
NM_004204.5(PIGQ):c.-9-1501A>G rs12917944 0.44962
NM_004204.5(PIGQ):c.1532-133G>A rs916415 0.44955
NM_004204.5(PIGQ):c.1532-68G>C rs4984897 0.44949
NM_004204.5(PIGQ):c.1532-50T>A rs916416 0.44947
NM_004204.5(PIGQ):c.1532-23T>C rs4006748 0.44936
NM_004204.5(PIGQ):c.1532-15T>C rs62030874 0.44935
NM_004204.5(PIGQ):c.1532-17del rs67976359 0.44933
NM_004204.5(PIGQ):c.1336-94C>T rs7191939 0.44713
NM_004341.5(CAD):c.4773A>G (p.Ala1591=) rs1141313 0.44315
NM_001205293.3(CACNA1E):c.2298-97C>T rs2280865 0.43240
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_020988.3(GNAO1):c.513C>T (p.Thr171=) rs1065375 0.42205
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_024818.6(UBA5):c.1024+32T>C rs2305629 0.41651
NM_015213.4(DENND5A):c.2607-19T>C rs7123970 0.41264
NM_004113.6(FGF12):c.125-21C>T rs4571187 0.40463
NM_000702.4(ATP1A2):c.495+81T>A rs2854248 0.39961
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_015192.4(PLCB1):c.1679-29C>T rs1015170 0.38615
NM_139318.5(KCNH5):c.1570-18A>G rs12588427 0.38324
NM_004204.5(PIGQ):c.1532-110C>T rs4262946 0.37630
NM_000810.4(GABRA5):c.878-27T>A rs140683 0.36914
NM_173728.4(ARHGEF15):c.177C>T (p.Thr59=) rs3744651 0.36629
NM_015267.4(CUX2):c.3918T>C (p.Asp1306=) rs3803167 0.35918
NM_139318.5(KCNH5):c.549+17T>C rs1950975 0.35828
NM_001365999.1(SZT2):c.2037+48G>A rs2782645 0.35801
NM_001205293.3(CACNA1E):c.5863G>A (p.Ala1955Thr) rs704326 0.35753
NM_000817.3(GAD1):c.111T>C (p.His37=) rs769404 0.34892
NM_000814.6(GABRB3):c.1080+15A>G rs3751582 0.34839
NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) rs10889335 0.34717
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_033453.4(ITPA):c.138G>A (p.Gln46=) rs8362 0.34252
NM_173354.5(SIK1):c.625-39A>G rs2006112 0.32889
NM_022786.3(ARV1):c.175-11T>C rs10779804 0.32756
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_001037333.3(CYFIP2):c.1530A>G (p.Leu510=) rs1823035 0.32531
NM_001365999.1(SZT2):c.8626-3T>C rs2255632 0.32528
NM_173354.5(SIK1):c.749-45C>G rs657978 0.32441
NM_001205293.3(CACNA1E):c.4008T>C (p.His1336=) rs4652678 0.32295
NM_001365999.1(SZT2):c.6034+11A>C rs2039531 0.31639
NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) rs2782643 0.31563
NM_173354.5(SIK1):c.625-23T>C rs2006191 0.31560
NM_033453.4(ITPA):c.561G>A (p.Glu187=) rs9101 0.31247
NM_001365999.1(SZT2):c.7356A>G (p.Glu2452=) rs2027130 0.31124
NM_001042646.3(TRAK1):c.1815C>T (p.Pro605=) rs2290133 0.30516
NM_139318.5(KCNH5):c.2233G>A (p.Ala745Thr) rs4902176 0.30330
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_006651.4(CPLX1):c.32-5A>G rs2306251 0.29356
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg) rs2254562 0.29094
NM_031844.3(HNRNPU):c.261G>A (p.Glu87=) rs6675421 0.28876
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) rs12906163 0.28315
NM_203446.3(SYNJ1):c.3518-7G>T rs2833929 0.28042
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_020822.3(KCNT1):c.254+20T>C rs2385007 0.27844
NM_015213.4(DENND5A):c.670G>C (p.Glu224Gln) rs952374 0.27376
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_004171.4(SLC1A2):c.1221A>G (p.Val407=) rs1042113 0.26392
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.3423+24A>C rs2294598 0.24849
NM_001205293.3(CACNA1E):c.5073C>T (p.Asn1691=) rs199930 0.24827
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=) rs2272457 0.23362
NM_020822.3(KCNT1):c.1200+12T>G rs58604946 0.23256
NM_006922.4(SCN3A):c.695-46A>G rs9333576 0.22613
NM_006922.4(SCN3A):c.602+9C>T rs7579000 0.22520
NM_004855.5(PIGB):c.-16A>G rs28668016 0.22431
NM_006922.4(SCN3A):c.968-20G>T rs11887309 0.22426
NM_004171.4(SLC1A2):c.603G>A (p.Pro201=) rs752949 0.22188
NM_004171.4(SLC1A2):c.562-36T>C rs3895234 0.22153
NM_001042646.3(TRAK1):c.900+43G>A rs2290137 0.22083
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) rs16850131 0.21998
NM_006922.4(SCN3A):c.1381-34G>A rs58539679 0.21988
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21697
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21686
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21623
NM_001037333.3(CYFIP2):c.2817+12C>A rs2289851 0.21242
NM_172107.4(KCNQ2):c.388-26G>T rs6062939 0.21189
NM_001958.5(EEF1A2):c.772+31C>A rs12480745 0.21133
NM_004171.4(SLC1A2):c.311-37A>G rs10836370 0.20991
NM_001040142.2(SCN2A):c.4255-31A>G rs1864885 0.20300
NM_005458.8(GABBR2):c.2413-4G>C rs970388 0.19916
NM_004171.4(SLC1A2):c.157+31C>G rs2273687 0.19605
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001378457.1(DMXL2):c.1346-39A>G rs12904173 0.18855
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met) rs17524906 0.18836
NM_001378457.1(DMXL2):c.5051+23G>A rs17524750 0.18767
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_001271.4(CHD2):c.4692+43A>G rs2119010 0.18154
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_001271.4(CHD2):c.5154-74C>T rs12905033 0.17307
NM_001271.4(CHD2):c.5154-75C>T rs12905032 0.17303
NM_020822.3(KCNT1):c.2008+21G>A rs7869884 0.16982
NM_020708.5(SLC12A5):c.2280C>T (p.Ser760=) rs3746522 0.16926
NM_203446.3(SYNJ1):c.3588+14C>T rs11702774 0.16837
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser) rs7187227 0.16607
NM_001205293.3(CACNA1E):c.3447C>T (p.Ile1149=) rs34488539 0.16515
NM_005458.8(GABBR2):c.2005-22C>T rs2304390 0.16356
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) rs62174900 0.16330
NM_005458.8(GABBR2):c.2052C>T (p.Pro684=) rs2304389 0.16316
NM_001127222.2(CACNA1A):c.5401-14C>T rs16042 0.16269
NM_006180.6(NTRK2):c.1937+13G>A rs2289656 0.15606
NM_152743.4(BRAT1):c.699G>A (p.Thr233=) rs61753095 0.15251
NM_001205293.3(CACNA1E):c.1639-19G>A rs4651113 0.15248
NM_000702.4(ATP1A2):c.495+96G>A rs17846707 0.15041
NM_000834.5(GRIN2B):c.1125+20A>G rs11055581 0.14832
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_000702.4(ATP1A2):c.2943-47C>G rs17846717 0.13239
NM_000702.4(ATP1A2):c.2943-27G>C rs17846718 0.13234
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_001205293.3(CACNA1E):c.2577T>A (p.Asp859Glu) rs35737760 0.12668
NM_001205293.3(CACNA1E):c.1056-8G>A rs17743547 0.12468
NM_152743.4(BRAT1):c.430+20A>G rs34720091 0.12399
NM_152743.4(BRAT1):c.1931G>A (p.Arg644Gln) rs4719553 0.12363
NM_152743.4(BRAT1):c.1321+18G>A rs62442586 0.12338
NM_001324418.2(ADAM22):c.2596+35T>C rs2240467 0.12317
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_020708.5(SLC12A5):c.280-45C>T rs3746515 0.11932
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001037333.3(CYFIP2):c.2079+9T>C rs2289850 0.11382
NM_004408.4(DNM1):c.312G>A (p.Glu104=) rs2229917 0.11354
NM_006030.4(CACNA2D2):c.663C>A (p.Ile221=) rs56287038 0.11199
NM_001958.5(EEF1A2):c.480G>A (p.Pro160=) rs2274860 0.10978
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_000702.4(ATP1A2):c.2709+26G>A rs12083034 0.10249
NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=) rs17443123 0.10021
NM_173354.5(SIK1):c.1246-36T>C rs2838302 0.09992
NM_173354.5(SIK1):c.274-28G>A rs59151119 0.09888
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_173354.5(SIK1):c.337+35C>G rs57684950 0.09708
NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=) rs17344810 0.09686
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09454
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09334
NM_000702.4(ATP1A2):c.177+95T>C rs17846705 0.09326
NM_173354.5(SIK1):c.156+15T>C rs56796001 0.09264
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_000702.4(ATP1A2):c.382-85G>A rs41265763 0.09102
NM_203446.3(SYNJ1):c.1201-3A>T rs844988 0.08382
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=) rs35048348 0.08186
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_001330260.2(SCN8A):c.4281+13A>G rs9943809 0.08096
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_006030.4(CACNA2D2):c.3291+10G>C rs2239801 0.08041
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=) rs2230766 0.07370
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=) rs2297385 0.07323
NM_015192.4(PLCB1):c.1009+26C>G rs2273189 0.07044
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_139318.5(KCNH5):c.2577= (p.Arg859=) rs7161127 0.06956
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_020708.5(SLC12A5):c.357G>T (p.Arg119=) rs77659338 0.06862
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_001324418.2(ADAM22):c.1393-3T>C rs3761806 0.06707
NM_173354.5(SIK1):c.749-49G>A rs117253106 0.06248
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) rs28510483 0.05232
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) rs35596465 0.05170
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=) rs41282782 0.05088
NM_021072.4(HCN1):c.1783+7dup rs56154381 0.04936
NM_001958.5(EEF1A2):c.1029+12C>T rs45510898 0.04910
NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala) rs16985442 0.04777
NM_020708.5(SLC12A5):c.482-19T>C rs77623489 0.04769
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718 0.04438
NM_152743.4(BRAT1):c.1923G>A (p.Ala641=) rs2917726 0.04425
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566 0.04350
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=) rs1042796 0.04304
NM_152743.4(BRAT1):c.1988G>A (p.Gly663Asp) rs61627394 0.04216
NM_015192.4(PLCB1):c.-170C>A rs139962835 0.04003
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03987
NM_001165963.4(SCN1A):c.4002+1985C>T rs59010534 0.03965
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_000834.5(GRIN2B):c.1126-12A>G rs76777620 0.03782
NM_001367561.1(DOCK7):c.4283-4A>G rs17123688 0.03743
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_006030.4(CACNA2D2):c.3349G>A (p.Val1117Ile) rs72934809 0.03716
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974 0.03661
NM_152743.4(BRAT1):c.1798C>T (p.Leu600Phe) rs56727079 0.03653
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTT rs1555854850 0.03520
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=) rs3818681 0.03482
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_203446.3(SYNJ1):c.479+9A>G rs76502784 0.03297
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=) rs12129487 0.03117
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp) rs34422225 0.03093
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_020708.5(SLC12A5):c.2012+3T>A rs12481488 0.03011
NM_139318.5(KCNH5):c.2088G>A (p.Val696=) rs36004050 0.02985
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=) rs34741608 0.02935
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=) rs3848724 0.02859
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=) rs3746519 0.02856
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=) rs35804246 0.02850
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_001205293.3(CACNA1E):c.3263-15G>A rs11808627 0.02783
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_004975.4(KCNB1):c.198C>T (p.His66=) rs520282 0.02665
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02603
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_020822.3(KCNT1):c.1036-15G>A rs112341167 0.02567
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser) rs34467662 0.02504
NM_152743.4(BRAT1):c.2209C>T (p.Arg737Trp) rs60152725 0.02491
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_177550.5(SLC13A5):c.369-14C>T rs218677 0.02396
NM_001127222.2(CACNA1A):c.1781+18C>A rs16013 0.02392
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200 0.02390
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001205293.3(CACNA1E):c.3732-14C>T rs2293991 0.02361
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952 0.02352
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865 0.02288
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_031844.3(HNRNPU):c.2352+14A>T rs57080269 0.02263
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_173728.4(ARHGEF15):c.2323C>T (p.Arg775Trp) rs79993581 0.02200
NM_177550.5(SLC13A5):c.716+11G>C rs7215596 0.02122
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_152743.4(BRAT1):c.854G>A (p.Arg285Gln) rs77213198 0.02022
NM_001271.4(CHD2):c.3596-20G>A rs78359469 0.02014
NM_152743.4(BRAT1):c.924-14G>A rs113638677 0.02010
NM_001367561.1(DOCK7):c.6255G>A (p.Pro2085=) rs35747851 0.01994
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=) rs72671125 0.01988
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539 0.01980
NM_006030.4(CACNA2D2):c.224G>A (p.Arg75Gln) rs41291734 0.01961
NM_152743.4(BRAT1):c.1636G>T (p.Val546Leu) rs34656552 0.01960
NM_020988.3(GNAO1):c.593+18C>T rs12721463 0.01914
NM_001365999.1(SZT2):c.9441-12C>T rs115595942 0.01911
NM_001367561.1(DOCK7):c.1389A>C (p.Arg463=) rs35627175 0.01901
NM_001367561.1(DOCK7):c.3472-5A>G rs76660788 0.01882
NM_014495.4(ANGPTL3):c.1003T>C (p.Leu335=) rs12563308 0.01867
NM_031844.3(HNRNPU):c.803+11C>T rs74152197 0.01825
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_001271.4(CHD2):c.4413+15C>T rs74029217 0.01677
NM_015192.4(PLCB1):c.*1551A>G rs77690948 0.01631
NM_173354.5(SIK1):c.1554G>T (p.Ala518=) rs34487963 0.01593
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_020708.5(SLC12A5):c.2100= (p.Ala700=) rs6032635 0.01551
NM_001205293.3(CACNA1E):c.4605+12A>C rs9662282 0.01546
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser) rs2229006 0.01543
NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) rs114759137 0.01542
NM_173728.4(ARHGEF15):c.217C>T (p.Pro73Ser) rs9890841 0.01541
NM_001130438.3(SPTAN1):c.5085= (p.Leu1695=) rs1415568 0.01520
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_000702.4(ATP1A2):c.*703G>A rs57902482 0.01488
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_001365999.1(SZT2):c.2929+9G>A rs114863461 0.01479
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_020822.3(KCNT1):c.3502+16G>A rs112116686 0.01447
NM_173728.4(ARHGEF15):c.1827A>G (p.Glu609=) rs35204656 0.01440
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_152743.4(BRAT1):c.1206C>T (p.Asp402=) rs7807895 0.01413
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001032221.6(STXBP1):c.663+17C>T rs140247913 0.01395
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01369
NM_203446.3(SYNJ1):c.3915+5G>T rs61750220 0.01369
NM_006922.4(SCN3A):c.5584G>T (p.Gly1862Cys) rs41265137 0.01346
NM_173728.4(ARHGEF15):c.1278G>A (p.Val426=) rs8067778 0.01338
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_173728.4(ARHGEF15):c.1574+11C>T rs113936293 0.01284
NM_173728.4(ARHGEF15):c.570C>T (p.Thr190=) rs62637603 0.01279
NM_001271.4(CHD2):c.3413+16G>A rs114892796 0.01273
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser) rs112735799 0.01273
NM_001365999.1(SZT2):c.348C>A (p.Ile116=) rs41312024 0.01256
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=) rs34942364 0.01214
NM_015192.4(PLCB1):c.178-15G>A rs6055775 0.01196
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_020988.3(GNAO1):c.993C>T (p.Asn331=) rs116862304 0.01146
NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser) rs61740320 0.01143
NM_001330260.2(SCN8A):c.4795+11T>C rs143139673 0.01136
NM_006030.4(CACNA2D2):c.1773+20_1773+21del rs143466427 0.01126
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301 0.01123
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=) rs79522550 0.01094
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_006279.5(ST3GAL3):c.398-7T>C rs114112844 0.01051
NM_001165963.4(SCN1A):c.4002+2052A>G rs58140851 0.01036
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302 0.01031
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) rs145582574 0.01018
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His) rs147797700 0.01015
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_152743.4(BRAT1):c.924-13C>T rs73287544 0.00979
NM_006030.4(CACNA2D2):c.2863-15C>T rs149761786 0.00975
NM_001205293.3(CACNA1E):c.373-14C>T rs4083900 0.00970
NM_004408.4(DNM1):c.1905+17C>T rs115623280 0.00965
NM_004408.4(DNM1):c.1894-18G>T rs116335289 0.00963
NM_203446.3(SYNJ1):c.*329G>A rs61750217 0.00954
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00946
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_152743.4(BRAT1):c.1135-8C>A rs113613637 0.00936
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn) rs34280195 0.00926
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849 0.00907
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001271.4(CHD2):c.4138-15T>G rs115207100 0.00887
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355 0.00866
NM_020822.3(KCNT1):c.2729+9A>G rs12005420 0.00858
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001958.5(EEF1A2):c.1265-15C>T rs200634874 0.00820
NM_139318.5(KCNH5):c.1369+7A>G rs79489451 0.00818
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg) rs72883814 0.00798
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_006922.4(SCN3A):c.4432-14T>C rs73969177 0.00780
NM_001271.4(CHD2):c.693-20C>T rs141271290 0.00778
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586 0.00768
NM_001099922.3(ALG13):c.2401+12C>A rs150294098 0.00767
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00766
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001205293.3(CACNA1E):c.4606-7T>C rs74444271 0.00757
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_001365999.1(SZT2):c.5025-17A>G rs149950330 0.00719
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_001365999.1(SZT2):c.7211-13C>G rs116454519 0.00705
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00698
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911 0.00687
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737 0.00657
NM_000702.4(ATP1A2):c.*72G>A rs2070701 0.00654
NM_152743.4(BRAT1):c.993G>A (p.Thr331=) rs76646873 0.00653
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) rs181024112 0.00646
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_020988.3(GNAO1):c.161+8C>T rs145872570 0.00641
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584 0.00635
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=) rs142346283 0.00625
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_007254.4(PNKP):c.*15C>T rs1050332 0.00609
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_203446.3(SYNJ1):c.*611C>T rs76056543 0.00609
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00598
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_001367561.1(DOCK7):c.6381-19C>T rs146910328 0.00591
NM_001165963.4(SCN1A):c.2177-10C>T rs199507113 0.00579
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_001367561.1(DOCK7):c.1392A>G (p.Pro464=) rs116172511 0.00571
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_006030.4(CACNA2D2):c.405+20G>A rs3213520 0.00555
NM_003359.4(UGDH):c.421C>T (p.Arg141Cys) rs115137663 0.00554
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_152743.4(BRAT1):c.803+11C>T rs150359205 0.00551
NM_001205293.3(CACNA1E):c.3263-16C>T rs74127837 0.00543
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952 0.00536
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_021072.4(HCN1):c.1012-14A>G rs112775315 0.00521
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=) rs140788949 0.00511
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_173728.4(ARHGEF15):c.822C>T (p.Leu274=) rs115119785 0.00507
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn) rs2231752 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) rs77238446 0.00481
NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=) rs145772306 0.00478
NM_173728.4(ARHGEF15):c.2366C>A (p.Thr789Asn) rs76729434 0.00477
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_004408.4(DNM1):c.357T>C (p.Pro119=) rs77325628 0.00468
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_203446.3(SYNJ1):c.1119-8G>T rs138882423 0.00462
NM_001365999.1(SZT2):c.1262-14C>T rs150704592 0.00461
NM_173728.4(ARHGEF15):c.2034-19C>T rs117474192 0.00461
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_007254.4(PNKP):c.*21A>C rs201872477 0.00444
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333 0.00443
NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=) rs35981087 0.00442
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_152743.4(BRAT1):c.675C>T (p.Phe225=) rs139443843 0.00438
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001205293.3(CACNA1E):c.1956+19G>A rs111734002 0.00431
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501 0.00419
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124 0.00419
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00414
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=) rs61756694 0.00406
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_001205293.3(CACNA1E):c.4329+14G>A rs138957815 0.00394
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_020988.3(GNAO1):c.921A>G (p.Gln307=) rs148650019 0.00385
NM_001205293.3(CACNA1E):c.3989+16G>A rs77439656 0.00383
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543 0.00379
NM_015192.4(PLCB1):c.1679-17G>A rs139542242 0.00372
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_001040142.2(SCN2A):c.3675+19A>G rs142439830 0.00367
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001330723.2(SNX27):c.801+18T>A rs115780664 0.00365
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_001205293.3(CACNA1E):c.4089G>T (p.Leu1363=) rs199667506 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001205293.3(CACNA1E):c.2298-16C>T rs189050461 0.00345
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys) rs74695054 0.00344
NM_006030.4(CACNA2D2):c.3369C>T (p.Leu1123=) rs77176698 0.00339
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=) rs111619313 0.00330
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409 0.00329
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001271.4(CHD2):c.4138-6T>C rs182330071 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001958.5(EEF1A2):c.1030-8G>A rs112283537 0.00314
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001165963.4(SCN1A):c.4002+2422A>G rs185755900 0.00310
NM_152743.4(BRAT1):c.1689G>A (p.Ala563=) rs146276208 0.00310
NM_173728.4(ARHGEF15):c.2388G>T (p.Gly796=) rs145204305 0.00310
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_031844.3(HNRNPU):c.1743+8G>T rs75674611 0.00304
NM_006030.4(CACNA2D2):c.1833G>A (p.Lys611=) rs41305892 0.00301
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=) rs200259257 0.00299
NM_001205293.3(CACNA1E):c.6399+3G>A rs377238885 0.00297
NM_001367561.1(DOCK7):c.2859+12A>G rs201742189 0.00297
NM_020708.5(SLC12A5):c.1569+13G>A rs75931039 0.00297
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_173728.4(ARHGEF15):c.67C>T (p.Arg23Cys) rs137909519 0.00294
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443 0.00290
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) rs142111310 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060 0.00285
NM_006030.4(CACNA2D2):c.2863-19G>A rs201054236 0.00283
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767 0.00281
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231 0.00279
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954 0.00267
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126 0.00262
NM_139318.5(KCNH5):c.775C>T (p.Leu259=) rs142666361 0.00262
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu) rs142119277 0.00258
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=) rs115093623 0.00255
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00249
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) rs200810453 0.00249
NM_001165963.4(SCN1A):c.1377+10C>T rs56112036 0.00248
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00248
NM_031844.3(HNRNPU):c.1743+10A>C rs75053711 0.00248
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_004408.4(DNM1):c.1197-7C>T rs41306488 0.00247
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile) rs115683257 0.00245
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_203446.3(SYNJ1):c.*315G>A rs145347648 0.00241
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) rs149678923 0.00238
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149 0.00236
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=) rs200603172 0.00235
NM_173728.4(ARHGEF15):c.54G>A (p.Arg18=) rs138484229 0.00235
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_003159.3(CDKL5):c.2994C>T (p.Phe998=) rs150900695 0.00231
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile) rs113708828 0.00230
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_004408.4(DNM1):c.1906-17T>C rs191460911 0.00225
NM_001205293.3(CACNA1E):c.5853T>C (p.Cys1951=) rs374978888 0.00220
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_001958.5(EEF1A2):c.237G>A (p.Lys79=) rs61737389 0.00219
NM_001205293.3(CACNA1E):c.5679+10A>C rs77123326 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001165963.4(SCN1A):c.4002+2261A>C rs539758485 0.00217
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_015192.4(PLCB1):c.2930+20T>G rs45533233 0.00214
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_020988.3(GNAO1):c.654C>T (p.Asp218=) rs139322464 0.00208
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_006030.4(CACNA2D2):c.271G>A (p.Val91Ile) rs150190044 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_152743.4(BRAT1):c.1659C>T (p.Leu553=) rs61746940 0.00205
NM_173728.4(ARHGEF15):c.2494T>C (p.Ser832Pro) rs115597604 0.00205
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_173728.4(ARHGEF15):c.2504C>A (p.Thr835Asn) rs114610832 0.00203
NM_173728.4(ARHGEF15):c.960G>A (p.Gln320=) rs112237413 0.00203
NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=) rs372257864 0.00202
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln) rs138077616 0.00198
NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu) rs150832847 0.00197
NM_173728.4(ARHGEF15):c.1638G>A (p.Arg546=) rs115756996 0.00197
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_021072.4(HCN1):c.1783+4C>T rs188586020 0.00196
NM_001165963.4(SCN1A):c.3550+11G>T rs202142409 0.00194
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_004408.4(DNM1):c.386-14G>A rs141695422 0.00189
NM_173728.4(ARHGEF15):c.2270-15C>T rs79687084 0.00189
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_139318.5(KCNH5):c.2315A>G (p.Glu772Gly) rs79913182 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254 0.00188
NM_001130438.3(SPTAN1):c.5358-16C>T rs143969764 0.00187
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551 0.00186
NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=) rs151293924 0.00186
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00183
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_015192.4(PLCB1):c.2711-18C>T rs186797959 0.00181
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_173354.5(SIK1):c.1463-18G>A rs370691454 0.00179
NM_139318.5(KCNH5):c.819C>T (p.Pro273=) rs115017019 0.00177
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_001271.4(CHD2):c.4592+18G>A rs116022337 0.00174
NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=) rs140744209 0.00174
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180 0.00172
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996 0.00166
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys) rs149086653 0.00161
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928 0.00161
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001165963.4(SCN1A):c.4002+2088C>T rs138488822 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=) rs61753093 0.00159
NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=) rs200952541 0.00157
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=) rs35648144 0.00154
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_173728.4(ARHGEF15):c.618C>T (p.Cys206=) rs138521691 0.00154
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg) rs61760986 0.00153
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001271.4(CHD2):c.2353-10A>G rs190159225 0.00150
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798 0.00145
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_001205293.3(CACNA1E):c.4548C>T (p.Ala1516=) rs201602244 0.00139
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=) rs182071786 0.00138
NM_001205293.3(CACNA1E):c.954C>T (p.Thr318=) rs147221625 0.00138
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_152743.4(BRAT1):c.1770+13A>G rs368492447 0.00135
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=) rs3856089 0.00131
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_152743.4(BRAT1):c.1579C>T (p.Leu527=) rs151161353 0.00126
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) rs147008168 0.00125
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) rs371001336 0.00125
NM_001367561.1(DOCK7):c.2859+20T>C rs567794345 0.00124
NM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014 0.00123
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358 0.00121
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=) rs80034565 0.00121
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr) rs200534160 0.00121
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=) rs375338599 0.00118
NM_006030.4(CACNA2D2):c.615C>T (p.Tyr205=) rs138163756 0.00117
NM_001130438.3(SPTAN1):c.1807-11T>C rs139049596 0.00116
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=) rs183395195 0.00114
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_173728.4(ARHGEF15):c.1260+8C>G rs73975818 0.00113
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
NM_006279.5(ST3GAL3):c.745-20C>T rs374443638 0.00111
NM_001271.4(CHD2):c.2876+11G>A rs199828490 0.00110
NM_001323289.2(CDKL5):c.283-12T>C rs188879559 0.00110
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_001032221.6(STXBP1):c.902+15C>T rs199534789 0.00109
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_006030.4(CACNA2D2):c.1340-17C>T rs151272438 0.00109
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_001367561.1(DOCK7):c.4668G>A (p.Arg1556=) rs115353638 0.00107
NM_001032221.6(STXBP1):c.1359+15C>T rs374034782 0.00106
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=) rs183065185 0.00105
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340 0.00105
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=) rs141031272 0.00102
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_001271.4(CHD2):c.855G>A (p.Ala285=) rs138796857 0.00099
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_152743.4(BRAT1):c.282+9G>A rs192133446 0.00099
NM_001365999.1(SZT2):c.3570C>T (p.Val1190=) rs147644619 0.00098
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00098
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) rs142605642 0.00097
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887 0.00096
NM_020822.3(KCNT1):c.2350-8G>A rs371678685 0.00096
NM_139318.5(KCNH5):c.1620A>G (p.Leu540=) rs115435938 0.00096
NM_004408.4(DNM1):c.450C>G (p.Pro150=) rs143834670 0.00093
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_152743.4(BRAT1):c.1322-12C>T rs200963118 0.00093
NM_173728.4(ARHGEF15):c.2004C>T (p.Ser668=) rs142705439 0.00093
NM_000702.4(ATP1A2):c.2284+18G>T rs369835706 0.00092
NM_001032221.6(STXBP1):c.1702+11G>A rs201977618 0.00092
NM_172107.4(KCNQ2):c.1887+17G>A rs369457896 0.00091
NM_004408.4(DNM1):c.1782-9A>G rs201739236 0.00090
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00090
NM_173354.5(SIK1):c.939G>T (p.Gln313His) rs200357670 0.00090
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_020988.3(GNAO1):c.161+17T>C rs201413721 0.00089
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_001130438.3(SPTAN1):c.237+11T>G rs768283186 0.00088
NM_001205293.3(CACNA1E):c.1171+13G>A rs367834352 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001330260.2(SCN8A):c.4281+18G>A rs368432695 0.00087
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_020822.3(KCNT1):c.854+10G>A rs146470183 0.00087
NM_001205293.3(CACNA1E):c.4212A>G (p.Val1404=) rs61731221 0.00086
NM_001365999.1(SZT2):c.7512-3C>T rs117106532 0.00086
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) rs187106999 0.00086
NM_004408.4(DNM1):c.747C>T (p.Thr249=) rs141651183 0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=) rs115927746 0.00085
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094 0.00083
NM_001330723.2(SNX27):c.986-20G>C rs199670160 0.00083
NM_001367561.1(DOCK7):c.4119+18C>T rs368702983 0.00083
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=) rs142535471 0.00083
NM_014334.4(FRRS1L):c.79G>T (p.Ala27Ser) rs769158433 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_020822.3(KCNT1):c.2842-15C>T rs372262576 0.00083
NM_139318.5(KCNH5):c.351A>G (p.Glu117=) rs116027402 0.00083
NM_001127222.2(CACNA1A):c.5840-14G>A rs184658006 0.00082
NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met) rs146883958 0.00082
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
NM_000834.5(GRIN2B):c.1569C>T (p.Val523=) rs148573953 0.00081
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_006030.4(CACNA2D2):c.1701+11C>T rs199734682 0.00081
NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) rs140628824 0.00081
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_001205293.3(CACNA1E):c.3837C>T (p.Phe1279=) rs41315709 0.00079
NM_006279.5(ST3GAL3):c.822A>G (p.Pro274=) rs199852949 0.00079
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=) rs144094037 0.00078
NM_001127222.2(CACNA1A):c.5400+15A>C rs373246283 0.00078
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=) rs142019382 0.00078
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_006279.5(ST3GAL3):c.745-13G>A rs199593585 0.00078
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_173354.5(SIK1):c.624+15C>T rs139467241 0.00077
NM_000702.4(ATP1A2):c.178-21C>T rs199660548 0.00076
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_004408.4(DNM1):c.2540C>T (p.Ser847Leu) rs199498658 0.00076
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_016373.4(WWOX):c.410-4A>T rs183410581 0.00076
NM_020988.3(GNAO1):c.724-9C>T rs377145312 0.00076
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367 0.00076
NM_020822.3(KCNT1):c.1619+18C>T rs183348093 0.00074
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196 0.00073
NM_015192.4(PLCB1):c.246+12A>G rs200984500 0.00073
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=) rs375018770 0.00072
NM_173728.4(ARHGEF15):c.1260+4G>A rs199691980 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_173354.5(SIK1):c.1744+10G>A rs376512810 0.00071
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) rs77299791 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
NM_001130438.3(SPTAN1):c.930+17G>A rs117436936 0.00069
NM_000834.5(GRIN2B):c.1780+8C>T rs199986080 0.00068
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=) rs182225778 0.00068
NM_001271.4(CHD2):c.2577+19T>C rs193089255 0.00068
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_020822.3(KCNT1):c.601-13C>G rs202113794 0.00068
NM_203446.3(SYNJ1):c.*732C>T rs148676465 0.00068
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_152743.4(BRAT1):c.825C>T (p.Ser275=) rs141320181 0.00067
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652 0.00067
NM_001040142.2(SCN2A):c.386+17C>T rs201918346 0.00066
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001130438.3(SPTAN1):c.2778+20G>A rs201463905 0.00066
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_139318.5(KCNH5):c.2826G>C (p.Leu942=) rs150366779 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) rs371116746 0.00064
NM_001367561.1(DOCK7):c.2859+17dup rs559908969 0.00064
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_001040142.2(SCN2A):c.2389-18A>C rs376273827 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=) rs372607441 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_139318.5(KCNH5):c.2652G>A (p.Pro884=) rs143147156 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_177550.5(SLC13A5):c.232-11C>T rs112805825 0.00061
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_173354.5(SIK1):c.500-21_500-18del rs375258010 0.00060
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_007254.4(PNKP):c.816+20C>T rs372038893 0.00059
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_001127222.2(CACNA1A):c.6527-19T>C rs375949210 0.00058
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp) rs199930602 0.00058
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001367561.1(DOCK7):c.4713C>T (p.His1571=) rs149949352 0.00058
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_001130438.3(SPTAN1):c.786-17G>T rs367832791 0.00056
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_006030.4(CACNA2D2):c.2589+16C>T rs757551734 0.00054
NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=) rs538711126 0.00054
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=) rs373897282 0.00054
NM_173728.4(ARHGEF15):c.2337C>T (p.Ser779=) rs115332545 0.00054
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001205293.3(CACNA1E):c.1315+12C>G rs373180436 0.00053
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) rs141057479 0.00053
NM_014334.4(FRRS1L):c.133C>A (p.Arg45Ser) rs573029562 0.00052
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888 0.00052
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_173354.5(SIK1):c.966G>A (p.Thr322=) rs148266853 0.00051
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 0.00050
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_001330260.2(SCN8A):c.3321C>T (p.Asn1107=) rs374213514 0.00050
NM_020822.3(KCNT1):c.3028-14T>G rs539727852 0.00050
NM_001205293.3(CACNA1E):c.4287A>G (p.Gln1429=) rs534133872 0.00049
NM_001205293.3(CACNA1E):c.5008C>T (p.Leu1670=) rs143906181 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001958.5(EEF1A2):c.279C>T (p.Pro93=) rs142072676 0.00049
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) rs139561508 0.00049
NM_203446.3(SYNJ1):c.706-11T>C rs150213884 0.00049
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00048
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001127222.2(CACNA1A):c.3693-20C>T rs200082880 0.00048
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001330260.2(SCN8A):c.1998+15G>T rs375797844 0.00048
NM_001330260.2(SCN8A):c.4543G>A (p.Val1515Ile) rs184568764 0.00048
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001271.4(CHD2):c.2001-15C>G rs201137739 0.00047
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=) rs2274861 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=) rs147373250 0.00045
NM_001099922.3(ALG13):c.1006-14G>A rs760527824 0.00045
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) rs374511141 0.00045
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=) rs372388512 0.00045
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys) rs140932985 0.00045
NM_014334.4(FRRS1L):c.312G>A (p.Lys104=) rs138531590 0.00045
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399 0.00045
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
NM_173354.5(SIK1):c.1560C>T (p.Leu520=) rs146485356 0.00045
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=) rs41282784 0.00044
NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=) rs112932810 0.00043
NM_020822.3(KCNT1):c.3502+12C>T rs367727105 0.00043
NM_020822.3(KCNT1):c.760-19G>A rs375929015 0.00043
NM_139318.5(KCNH5):c.943-18T>G rs541748886 0.00043
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=) rs61741139 0.00042
NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315 0.00041
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00041
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001165963.4(SCN1A):c.4002+2383G>T rs191448880 0.00041
NM_001958.5(EEF1A2):c.772+13G>A rs376455856 0.00041
NM_139318.5(KCNH5):c.1970C>G (p.Ala657Gly) rs143775193 0.00041
NM_173354.5(SIK1):c.1462+11C>T rs373251983 0.00041
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001205293.3(CACNA1E):c.3263-13G>A rs368969096 0.00040
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718 0.00040
NM_006922.4(SCN3A):c.5407G>A (p.Asp1803Asn) rs3731762 0.00040
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_203446.3(SYNJ1):c.705+7A>G rs187016397 0.00040
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile) rs1290639452 0.00039
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser) rs144395162 0.00039
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_020822.3(KCNT1):c.-1C>A rs149383208 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132 0.00038
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001271.4(CHD2):c.3886-14C>T rs368361932 0.00038
NM_020988.3(GNAO1):c.1017C>A (p.Val339=) rs142102704 0.00038
NM_021072.4(HCN1):c.1710C>T (p.Asn570=) rs141455774 0.00038
NM_203446.3(SYNJ1):c.*186_*187insAATAC rs869265580 0.00037
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=) rs368042511 0.00036
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_004408.4(DNM1):c.1437C>T (p.Ile479=) rs141788807 0.00036
NM_004975.4(KCNB1):c.177G>A (p.Lys59=) rs117017889 0.00036
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp) rs199745325 0.00036
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_001130438.3(SPTAN1):c.1324-13C>G rs199839122 0.00035
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001205293.3(CACNA1E):c.5898+10T>C rs375791346 0.00035
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) rs56164833 0.00035
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) rs150905302 0.00034
NM_020822.3(KCNT1):c.2691G>A (p.Ala897=) rs142642528 0.00034
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_001040142.2(SCN2A):c.2149+8A>G rs199897920 0.00033
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607 0.00033
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_152743.4(BRAT1):c.127+15C>G rs543145292 0.00033
NM_001330260.2(SCN8A):c.707-15A>T rs149586118 0.00032
NM_001367561.1(DOCK7):c.519+17T>G rs745941706 0.00032
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000 0.00032
NM_021072.4(HCN1):c.2227C>G (p.Pro743Ala) rs560701504 0.00032
NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=) rs199621855 0.00032
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn) rs533216340 0.00032
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991 0.00031
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=) rs16036 0.00031
NM_001271.4(CHD2):c.3455+19T>C rs200427035 0.00031
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) rs373047934 0.00031
NM_020822.3(KCNT1):c.1338-3C>T rs369562243 0.00031
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_000834.5(GRIN2B):c.45G>A (p.Val15=) rs374735893 0.00030
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001191061.2(SLC25A22):c.294-13G>A rs201472482 0.00030
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_139318.5(KCNH5):c.1960A>G (p.Thr654Ala) rs199774231 0.00030
NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser) rs141844705 0.00029
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012 0.00029
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=) rs377234151 0.00029
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670 0.00029
NM_006279.5(ST3GAL3):c.753G>A (p.Ser251=) rs187276382 0.00029
NM_015509.4(NECAP1):c.69G>A (p.Pro23=) rs149738880 0.00029
NM_020822.3(KCNT1):c.334+10G>A rs185209587 0.00029
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) rs144068763 0.00028
NM_173728.4(ARHGEF15):c.1809G>C (p.Gly603=) rs116091376 0.00028
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001271.4(CHD2):c.2728-3C>T rs2272460 0.00027
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445 0.00027
NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=) rs145005918 0.00026
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=) rs138979360 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) rs35519605 0.00026
NM_173728.4(ARHGEF15):c.2239T>C (p.Cys747Arg) rs202083675 0.00026
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_006030.4(CACNA2D2):c.561A>G (p.Leu187=) rs587661537 0.00025
NM_173354.5(SIK1):c.546G>T (p.Thr182=) rs146068550 0.00025
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001205293.3(CACNA1E):c.3183C>G (p.Asp1061Glu) rs556267480 0.00024
NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=) rs371345680 0.00024
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) rs374429090 0.00024
NM_020822.3(KCNT1):c.3502+18G>A rs374991913 0.00024
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_001099922.3(ALG13):c.886-16C>A rs780688383 0.00023
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101 0.00023
NM_001330260.2(SCN8A):c.4969C>T (p.Leu1657=) rs374755275 0.00023
NM_020822.3(KCNT1):c.1620-16C>G rs369334561 0.00023
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494 0.00023
NM_021072.4(HCN1):c.1626C>T (p.Cys542=) rs150863293 0.00023
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys) rs935756107 0.00022
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585 0.00022
NM_173354.5(SIK1):c.1463-3C>T rs372615326 0.00022
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001099922.3(ALG13):c.2933-14A>G rs755886617 0.00021
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001205293.3(CACNA1E):c.5267+20G>A rs375721145 0.00021
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556 0.00021
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_020708.5(SLC12A5):c.2547+14G>A rs368044730 0.00021
NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) rs540422455 0.00021
NM_020822.3(KCNT1):c.1620-17C>T rs376069264 0.00021
NM_021072.4(HCN1):c.259C>T (p.Pro87Ser) rs370113959 0.00021
NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser) rs114447363 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_173728.4(ARHGEF15):c.708G>A (p.Arg236=) rs34046779 0.00021
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val) rs1451116623 0.00020
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_002641.4(PIGA):c.273C>T (p.Tyr91=) rs61730284 0.00020
NM_001127222.2(CACNA1A):c.4866+13T>C rs368876802 0.00019
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00019
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001367561.1(DOCK7):c.38+12G>C rs1052964502 0.00019
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=) rs202231787 0.00019
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808 0.00019
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) rs376640139 0.00019
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) rs141815718 0.00018
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=) rs773587323 0.00018
NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=) rs3746521 0.00018
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_203446.3(SYNJ1):c.-23+15G>A rs546859861 0.00018
NM_000834.5(GRIN2B):c.1780+9G>A rs201461091 0.00017
NM_000834.5(GRIN2B):c.2599-19C>A rs3751258 0.00017
NM_001040142.2(SCN2A):c.1035-7A>C rs558800241 0.00017
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330723.2(SNX27):c.1389+17G>A rs185748265 0.00017
NM_004975.4(KCNB1):c.568-18A>G rs190903326 0.00017
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_001032221.6(STXBP1):c.902+9C>A rs200737004 0.00016
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001130438.3(SPTAN1):c.4146+19_4146+20insA rs554731574 0.00016
NM_001130438.3(SPTAN1):c.4146+20G>C rs560213432 0.00016
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001199107.2(TBC1D24):c.1207-16C>G rs201618854 0.00016
NM_001271.4(CHD2):c.295-20G>A rs191859431 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_020822.3(KCNT1):c.2118G>A (p.Arg706=) rs766746716 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_152743.4(BRAT1):c.1701C>T (p.Thr567=) rs199766692 0.00016
NM_173354.5(SIK1):c.1278C>T (p.Ser426=) rs539889673 0.00016
NM_173728.4(ARHGEF15):c.930A>G (p.Gln310=) rs115530616 0.00016
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_203446.3(SYNJ1):c.3697+10C>G rs548819939 0.00016
NM_001040142.2(SCN2A):c.2149+19G>A rs188453890 0.00015
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr) rs202118773 0.00015
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=) rs775898692 0.00015
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr) rs560469774 0.00014
NM_001271.4(CHD2):c.1503-7T>C rs777008776 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001330260.2(SCN8A):c.2394G>A (p.Ala798=) rs201392695 0.00014
NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr) rs200840944 0.00014
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile) rs372263564 0.00014
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00014
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020988.3(GNAO1):c.304-10C>A rs754891603 0.00014
NM_152743.4(BRAT1):c.762C>T (p.Pro254=) rs143192367 0.00014
NM_001040142.2(SCN2A):c.3520+11C>T rs187452739 0.00013
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001271.4(CHD2):c.826+4T>C rs369930157 0.00013
NM_001323289.2(CDKL5):c.464-9A>G rs374030184 0.00013
NM_002641.4(PIGA):c.716-10A>G rs375371562 0.00013
NM_003159.3(CDKL5):c.2797+19A>G rs375809338 0.00013
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe) rs149561461 0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_001032221.6(STXBP1):c.1250-20C>T rs368217811 0.00012
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.413T>C (p.Met138Thr) rs767527240 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550 0.00012
NM_001330260.2(SCN8A):c.3373-9C>T rs770747359 0.00012
NM_001958.5(EEF1A2):c.672C>T (p.Ser224=) rs200051020 0.00012
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) rs761082551 0.00012
NM_006030.4(CACNA2D2):c.1260+11A>G rs771701603 0.00012
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855 0.00012
NM_139318.5(KCNH5):c.224A>G (p.Lys75Arg) rs557868420 0.00012
NM_173354.5(SIK1):c.243G>C (p.Leu81=) rs549478743 0.00012
NM_000834.5(GRIN2B):c.1328+17A>G rs201560542 0.00011
NM_000834.5(GRIN2B):c.190G>A (p.Val64Met) rs150070901 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892 0.00011
NM_001127222.2(CACNA1A):c.3883-15T>C rs767715097 0.00011
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) rs200625174 0.00011
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val) rs927310190 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.6576+12G>A rs144725581 0.00011
NM_001271.4(CHD2):c.4533C>T (p.Asp1511=) rs141821906 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001353921.2(ARHGEF9):c.946-16C>T rs781867369 0.00011
NM_001367561.1(DOCK7):c.3300+15G>A rs145276116 0.00011
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00011
NM_021072.4(HCN1):c.1041C>T (p.Tyr347=) rs140235085 0.00011
NM_021072.4(HCN1):c.1437G>A (p.Ala479=) rs372374391 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=) rs781056597 0.00011
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_173354.5(SIK1):c.1488G>A (p.Thr496=) rs753580147 0.00011
NM_173354.5(SIK1):c.30C>T (p.Asp10=) rs751254558 0.00011
NM_000834.5(GRIN2B):c.1781-3C>T rs201520798 0.00010
NM_000834.5(GRIN2B):c.771C>T (p.Ile257=) rs142203984 0.00010
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541 0.00010
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369 0.00010
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=) rs762242384 0.00010
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217 0.00010
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770 0.00010
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val) rs201361742 0.00010
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys) rs761613346 0.00010
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) rs201212125 0.00010
NM_014334.4(FRRS1L):c.323+7G>A rs757162007 0.00010
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=) rs141102170 0.00010
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg) rs897453553 0.00010
NM_020822.3(KCNT1):c.1337+16C>T rs369329858 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341 0.00010
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) rs752544370 0.00010
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) rs759724871 0.00010
NM_173728.4(ARHGEF15):c.711C>T (p.Val237=) rs537744294 0.00010
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=) rs540183181 0.00010
NM_001040142.2(SCN2A):c.5208T>G (p.Asp1736Glu) rs200016923 0.00009
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=) rs760208274 0.00009
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.4905+20G>A rs200959763 0.00009
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901 0.00009
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met) rs754362594 0.00009
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr) rs146429493 0.00009
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser) rs201960228 0.00009
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) rs76204496 0.00009
NM_020708.5(SLC12A5):c.1926C>T (p.Gly642=) rs748908890 0.00009
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2349+11C>T rs374140862 0.00009
NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) rs148001061 0.00009
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=) rs759754710 0.00008
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.237+10A>G rs746224717 0.00008
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala) rs756560952 0.00008
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=) rs150801649 0.00008
NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=) rs138877187 0.00008
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_002641.4(PIGA):c.1188G>A (p.Lys396=) rs754561270 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015509.4(NECAP1):c.492+19A>G rs150800929 0.00008
NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser) rs559674838 0.00008
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) rs371360176 0.00008
NM_152743.4(BRAT1):c.1598-20G>A rs141753173 0.00008
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=) rs115263361 0.00008
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=) rs199710029 0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) rs1038705410 0.00007
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283 0.00007
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289 0.00007
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr) rs375244907 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001191061.2(SLC25A22):c.743-16C>T rs200493024 0.00007
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849 0.00007
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154 0.00007
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=) rs770193102 0.00007
NM_001330260.2(SCN8A):c.855C>T (p.Pro285=) rs200784857 0.00007
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) rs782313473 0.00007
NM_002641.4(PIGA):c.384T>C (p.His128=) rs750216116 0.00007
NM_003159.3(CDKL5):c.2797+16C>T rs778757202 0.00007
NM_004408.4(DNM1):c.2541G>A (p.Ser847=) rs545142847 0.00007
NM_004974.4(KCNA2):c.1143T>C (p.Val381=) rs200847196 0.00007
NM_020822.3(KCNT1):c.335-16G>A rs151217665 0.00007
NM_020988.3(GNAO1):c.450C>T (p.Asn150=) rs185369495 0.00007
NM_020988.3(GNAO1):c.687C>T (p.Ser229=) rs546569747 0.00007
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NC_000023.11:g.18646008C>T rs201714912 0.00006
NM_000702.4(ATP1A2):c.1761T>C (p.Ser587=) rs199621678 0.00006
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289 0.00006
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339 0.00006
NM_000834.5(GRIN2B):c.270T>C (p.Ser90=) rs540429850 0.00006
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00006
NM_000834.5(GRIN2B):c.3797C>T (p.Pro1266Leu) rs201947553 0.00006
NM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys) rs531747728 0.00006
NM_000834.5(GRIN2B):c.4270C>T (p.Leu1424Phe) rs748128078 0.00006
NM_001032221.6(STXBP1):c.247-10C>G rs376599576 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001099922.3(ALG13):c.2369-19T>C rs376719251 0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys) rs368081042 0.00006
NM_001127222.2(CACNA1A):c.294-6C>T rs764502828 0.00006
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=) rs557205300 0.00006
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.6689+17G>A rs143675512 0.00006
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698 0.00006
NM_001271.4(CHD2):c.261C>G (p.Ala87=) rs367968143 0.00006
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr) rs746849506 0.00006
NM_001271.4(CHD2):c.551+13C>T rs137954528 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_001330260.2(SCN8A):c.3710A>G (p.Lys1237Arg) rs377197765 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.615-144C>T rs192982781 0.00006
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His) rs371217448 0.00006
NM_001958.5(EEF1A2):c.1030-10C>A rs571276508 0.00006
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=) rs199643016 0.00006
NM_001958.5(EEF1A2):c.1264+18G>A rs748993770 0.00006
NM_001958.5(EEF1A2):c.561C>T (p.Thr187=) rs376891760 0.00006
NM_001958.5(EEF1A2):c.726G>A (p.Thr242=) rs1005974432 0.00006
NM_003159.3(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192 0.00006
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) rs370974891 0.00006
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu) rs777053418 0.00006
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile) rs542708318 0.00006
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) rs373223027 0.00006
NM_006030.4(CACNA2D2):c.1674G>A (p.Val558=) rs201381985 0.00006
NM_006030.4(CACNA2D2):c.2401+13G>A rs762669835 0.00006
NM_007254.4(PNKP):c.1387-11G>A rs200785744 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly) rs764588235 0.00006
NM_020708.5(SLC12A5):c.1956G>A (p.Ala652=) rs190924143 0.00006
NM_020822.3(KCNT1):c.1200+15C>T rs138631641 0.00006
NM_020822.3(KCNT1):c.1201-6C>T rs543464639 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) rs373039242 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_152743.4(BRAT1):c.1740C>T (p.Pro580=) rs200084998 0.00006
NM_152743.4(BRAT1):c.2250C>T (p.Ala750=) rs543555790 0.00006
NM_172107.4(KCNQ2):c.297-10C>G rs763193303 0.00006
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) rs753288564 0.00006
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) rs567695572 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.924G>A (p.Ala308=) rs199738681 0.00006
NM_173728.4(ARHGEF15):c.2298G>A (p.Ser766=) rs116448253 0.00006
NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln) rs143955920 0.00005
NM_000834.5(GRIN2B):c.412-20T>C rs779719544 0.00005
NM_001032221.6(STXBP1):c.246+15A>G rs369881520 0.00005
NM_001032221.6(STXBP1):c.579G>A (p.Gly193=) rs771910659 0.00005
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) rs759719376 0.00005
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg) rs765500818 0.00005
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=) rs375739139 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) rs368183370 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912 0.00005
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001165963.4(SCN1A):c.69G>A (p.Ala23=) rs780729477 0.00005
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.283-14T>C rs776132140 0.00005
NM_001323289.2(CDKL5):c.64+19G>A rs776988929 0.00005
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286 0.00005
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728 0.00005
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482 0.00005
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) rs781930227 0.00005
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) rs369716500 0.00005
NM_001958.5(EEF1A2):c.675C>T (p.Gly225=) rs749250921 0.00005
NM_002641.4(PIGA):c.96C>G (p.Thr32=) rs750555194 0.00005
NM_004408.4(DNM1):c.1422+6C>T rs773817727 0.00005
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile) rs376490656 0.00005
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val) rs750157634 0.00005
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=) rs368736609 0.00005
NM_006030.4(CACNA2D2):c.1620C>T (p.Asn540=) rs200816734 0.00005
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375 0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.3502+17C>T rs767500906 0.00005
NM_020822.3(KCNT1):c.676-4A>G rs780921786 0.00005
NM_021072.4(HCN1):c.68C>T (p.Ala23Val) rs1060500096 0.00005
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00005
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_203446.3(SYNJ1):c.*690G>A rs559102258 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_000834.5(GRIN2B):c.2648T>C (p.Val883Ala) rs770464893 0.00004
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln) rs201966022 0.00004
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225 0.00004
NM_000834.5(GRIN2B):c.4041C>A (p.Ser1347Arg) rs769147604 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001099922.3(ALG13):c.1435+20A>G rs368555602 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=) rs764400701 0.00004
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719 0.00004
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=) rs183712771 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701 0.00004
NM_001130438.3(SPTAN1):c.4345-16C>T rs549736000 0.00004
NM_001130438.3(SPTAN1):c.5479-15G>A rs377449636 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr) rs766503699 0.00004
NM_001271.4(CHD2):c.1474C>T (p.Leu492=) rs139149362 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) rs782520132 0.00004
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) rs149672814 0.00004
NM_001367561.1(DOCK7):c.5724+18A>G rs377719435 0.00004
NM_001958.5(EEF1A2):c.351G>A (p.Ala117=) rs148602858 0.00004
NM_002641.4(PIGA):c.198G>A (p.Lys66=) rs762748091 0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu) rs202161781 0.00004
NM_002641.4(PIGA):c.981+8G>A rs778602062 0.00004
NM_004408.4(DNM1):c.1128+11C>G rs761415279 0.00004
NM_004974.4(KCNA2):c.972C>T (p.Ser324=) rs765820644 0.00004
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) rs201414449 0.00004
NM_004975.4(KCNB1):c.594C>T (p.Phe198=) rs375779334 0.00004
NM_006030.4(CACNA2D2):c.1392A>G (p.Glu464=) rs201985877 0.00004
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481 0.00004
NM_007254.4(PNKP):c.1126+9C>T rs3739202 0.00004
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile) rs756339242 0.00004
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) rs769406687 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=) rs377162900 0.00004
NM_020988.3(GNAO1):c.425A>G (p.Asn142Ser) rs758424351 0.00004
NM_021072.4(HCN1):c.84G>A (p.Thr28=) rs1377682866 0.00004
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) rs200962317 0.00004
NM_031844.3(HNRNPU):c.1952A>C (p.Glu651Ala) rs202115297 0.00004
NM_031844.3(HNRNPU):c.374A>C (p.Glu125Ala) rs199765762 0.00004
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_139318.5(KCNH5):c.2456G>T (p.Gly819Val) rs373106772 0.00004
NM_139318.5(KCNH5):c.501G>A (p.Thr167=) rs200714977 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=) rs1801385 0.00004
NM_172107.4(KCNQ2):c.2253G>A (p.Ser751=) rs552151799 0.00004
NM_172107.4(KCNQ2):c.816+10G>T rs201012161 0.00004
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=) rs534908601 0.00004
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.2116-14C>T rs748188822 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr) rs376328340 0.00003
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200 0.00003
NM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=) rs201732760 0.00003
NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys) rs773648473 0.00003
NM_001032221.6(STXBP1):c.1587C>T (p.Gly529=) rs573931063 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=) rs776892826 0.00003
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=) rs764270660 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=) rs749768274 0.00003
NM_001130438.3(SPTAN1):c.4491+6G>A rs748113883 0.00003
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) rs780622472 0.00003
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=) rs549528366 0.00003
NM_001130438.3(SPTAN1):c.6280-5T>A rs746651127 0.00003
NM_001130438.3(SPTAN1):c.6959+6C>T rs542848685 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val) rs138357595 0.00003
NM_001205293.3(CACNA1E):c.5787-17T>C rs747757024 0.00003
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=) rs774908145 0.00003
NM_001271.4(CHD2):c.3734+7A>G rs565514035 0.00003
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312 0.00003
NM_001323289.2(CDKL5):c.2497-17C>T rs780795025 0.00003
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=) rs764954859 0.00003
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_001330260.2(SCN8A):c.1897C>G (p.Leu633Val) rs751275472 0.00003
NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp) rs370141803 0.00003
NM_001330260.2(SCN8A):c.3645+14G>C rs202031360 0.00003
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile) rs771231471 0.00003
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) rs782187939 0.00003
NM_001365999.1(SZT2):c.1584C>T (p.Ser528=) rs373399099 0.00003
NM_001367561.1(DOCK7):c.2985T>A (p.Val995=) rs188467262 0.00003
NM_002641.4(PIGA):c.120C>T (p.Asp40=) rs200475470 0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val) rs142772459 0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His) rs758863767 0.00003
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) rs936778119 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_020822.3(KCNT1):c.1188C>T (p.His396=) rs544796091 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_021072.4(HCN1):c.261C>G (p.Pro87=) rs199612501 0.00003
NM_031844.3(HNRNPU):c.157A>G (p.Met53Val) rs770396451 0.00003
NM_031844.3(HNRNPU):c.1615-10T>C rs193281914 0.00003
NM_139318.5(KCNH5):c.1201C>T (p.Arg401Cys) rs753034623 0.00003
NM_139318.5(KCNH5):c.2215C>T (p.Arg739Cys) rs372185345 0.00003
NM_152743.4(BRAT1):c.1499-8C>T rs370879134 0.00003
NM_152743.4(BRAT1):c.2052A>G (p.Pro684=) rs775271322 0.00003
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr) rs753285222 0.00003
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala) rs377535420 0.00003
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met) rs761262141 0.00003
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser) rs751934560 0.00003
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) rs773124142 0.00003
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr) rs760602207 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.273+8G>T rs370279333 0.00003
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=) rs566533509 0.00003
NC_000023.11:g.18650483A>G rs765535216 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 0.00002
NM_000834.5(GRIN2B):c.2172-9C>G rs1555103671 0.00002
NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu) rs766946947 0.00002
NM_000834.5(GRIN2B):c.3499G>A (p.Val1167Ile) rs1042339 0.00002
NM_000834.5(GRIN2B):c.3514C>T (p.Pro1172Ser) rs757924519 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000834.5(GRIN2B):c.52G>A (p.Val18Ile) rs201094029 0.00002
NM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln) rs1196117849 0.00002
NM_001032221.6(STXBP1):c.1341C>T (p.Gly447=) rs367980635 0.00002
NM_001040142.2(SCN2A):c.1479G>A (p.Leu493=) rs182457234 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu) rs770150113 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001099922.3(ALG13):c.378C>T (p.Thr126=) rs777042118 0.00002
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706 0.00002
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys) rs370098098 0.00002
NM_001127222.2(CACNA1A):c.1556-17C>T rs755361841 0.00002
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=) rs371757002 0.00002
NM_001127222.2(CACNA1A):c.5731+14del rs762645821 0.00002
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=) rs777441722 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426 0.00002
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683 0.00002
NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn) rs550770894 0.00002
NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe) rs1396476288 0.00002
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) rs1260685558 0.00002
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=) rs369650500 0.00002
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296 0.00002
NM_001271.4(CHD2):c.1170A>G (p.Lys390=) rs1342167975 0.00002
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr) rs776393356 0.00002
NM_001271.4(CHD2):c.854C>T (p.Ala285Val) rs544867753 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser) rs1430214724 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.2056G>A (p.Asp686Asn) rs373073046 0.00002
NM_001330260.2(SCN8A):c.2118T>C (p.Asn706=) rs555404940 0.00002
NM_001330260.2(SCN8A):c.2902-9C>T rs773347806 0.00002
NM_001330723.2(SNX27):c.1578+118G>A rs143574605 0.00002
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) rs782666474 0.00002
NM_001958.5(EEF1A2):c.72G>A (p.Thr24=) rs746094472 0.00002
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr) rs768749706 0.00002
NM_002641.4(PIGA):c.1188+4T>C rs751261624 0.00002
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln) rs769061128 0.00002
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr) rs777795093 0.00002
NM_002641.4(PIGA):c.369G>A (p.Thr123=) rs766304305 0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) rs369608621 0.00002
NM_003159.3(CDKL5):c.2867G>A (p.Arg956His) rs376557374 0.00002
NM_004408.4(DNM1):c.1401C>T (p.Arg467=) rs527820256 0.00002
NM_004408.4(DNM1):c.1662G>A (p.Lys554=) rs371589347 0.00002
NM_004408.4(DNM1):c.1886G>A (p.Arg629His) rs778378392 0.00002
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn) rs754501788 0.00002
NM_004408.4(DNM1):c.261G>A (p.Lys87=) rs377178808 0.00002
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile) rs896349825 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met) rs775588653 0.00002
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met) rs774976039 0.00002
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln) rs151175979 0.00002
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr) rs758332295 0.00002
NM_014334.3(FRRS1L):c.1A>T (p.Met1Leu) rs527415212 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_020988.3(GNAO1):c.310G>A (p.Ala104Thr) rs375429245 0.00002
NM_031844.3(HNRNPU):c.2204A>G (p.Asn735Ser) rs1254900423 0.00002
NM_031844.3(HNRNPU):c.2424+16T>C rs537512846 0.00002
NM_031844.3(HNRNPU):c.692-14C>T rs201729220 0.00002
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) rs1308958274 0.00002
NM_139318.5(KCNH5):c.1436A>G (p.Asn479Ser) rs1887768573 0.00002
NM_139318.5(KCNH5):c.2557G>A (p.Val853Met) rs140331213 0.00002
NM_139318.5(KCNH5):c.766G>A (p.Val256Ile) rs756506083 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_152743.4(BRAT1):c.560C>G (p.Pro187Arg) rs551655837 0.00002
NM_173354.5(SIK1):c.1782G>A (p.Thr594=) rs548640382 0.00002
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val) rs1362078144 0.00002
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) rs769181075 0.00002
NM_173728.4(ARHGEF15):c.1873-5C>T rs752190951 0.00002
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000834.5(GRIN2B):c.1010+3G>A rs771246986 0.00001
NM_000834.5(GRIN2B):c.1125+9T>C rs764590430 0.00001
NM_000834.5(GRIN2B):c.1318A>G (p.Ile440Val) rs765062440 0.00001
NM_000834.5(GRIN2B):c.2325G>C (p.Gln775His) rs774981179 0.00001
NM_000834.5(GRIN2B):c.2700C>A (p.Arg900=) rs531269037 0.00001
NM_000834.5(GRIN2B):c.2938G>A (p.Val980Met) rs778202551 0.00001
NM_000834.5(GRIN2B):c.3049T>G (p.Ser1017Ala) rs1948601205 0.00001
NM_000834.5(GRIN2B):c.3148A>G (p.Ser1050Gly) rs1157190922 0.00001
NM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=) rs1227988479 0.00001
NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=) rs200884387 0.00001
NM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=) rs201983807 0.00001
NM_000834.5(GRIN2B):c.3685G>A (p.Val1229Met) rs1948582128 0.00001
NM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=) rs776247380 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000834.5(GRIN2B):c.4093A>C (p.Asn1365His) rs1330186615 0.00001
NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser) rs1043559346 0.00001
NM_000834.5(GRIN2B):c.4148C>T (p.Thr1383Met) rs775838374 0.00001
NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg) rs1349506481 0.00001
NM_000834.5(GRIN2B):c.4229C>T (p.Thr1410Met) rs779830552 0.00001
NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu) rs1314346300 0.00001
NM_000834.5(GRIN2B):c.425T>C (p.Met142Thr) rs1184168879 0.00001
NM_000834.5(GRIN2B):c.4265G>A (p.Arg1422Gln) rs75269586 0.00001
NM_000834.5(GRIN2B):c.4286C>T (p.Pro1429Leu) rs1261054497 0.00001
NM_000834.5(GRIN2B):c.4322G>A (p.Arg1441His) rs200903876 0.00001
NM_000834.5(GRIN2B):c.4355C>T (p.Ser1452Phe) rs756790727 0.00001
NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp) rs1384338205 0.00001
NM_000834.5(GRIN2B):c.619A>G (p.Met207Val) rs747790101 0.00001
NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val) rs201672517 0.00001
NM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr) rs1246772896 0.00001
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser) rs748965398 0.00001
NM_001032221.6(STXBP1):c.1543G>A (p.Val515Ile) rs781079163 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.1585G>A (p.Gly529Ser) rs763711145 0.00001
NM_001032221.6(STXBP1):c.36G>C (p.Glu12Asp) rs796053378 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001032221.6(STXBP1):c.824G>A (p.Arg275Gln) rs747288455 0.00001
NM_001032221.6(STXBP1):c.964-3C>T rs1841563646 0.00001
NM_001040142.2(SCN2A):c.2388+12T>C rs749226972 0.00001
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943 0.00001
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001099922.3(ALG13):c.2932+17A>G rs760993782 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) rs538079885 0.00001
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00001
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu) rs554455455 0.00001
NM_001127222.2(CACNA1A):c.3882+13T>C rs779233415 0.00001
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp) rs771030765 0.00001
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln) rs796930106 0.00001
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=) rs570171059 0.00001
NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys) rs759822213 0.00001
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391 0.00001
NM_001130438.3(SPTAN1):c.2354G>A (p.Arg785Gln) rs780875433 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 0.00001
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753 0.00001
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543 0.00001
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631 0.00001
NM_001130438.3(SPTAN1):c.504+5G>A rs377258326 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5544G>A (p.Gln1848=) rs572958583 0.00001
NM_001130438.3(SPTAN1):c.5712C>T (p.Gly1904=) rs150960451 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.7415G>A (p.Arg2472His) rs375016371 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001165963.4(SCN1A):c.1029-12C>T rs772513720 0.00001
NM_001165963.4(SCN1A):c.2044-20A>G rs777660738 0.00001
NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=) rs761878186 0.00001
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser) rs776752552 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.558T>C (p.Leu186=) rs539168834 0.00001
NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp) rs1457806589 0.00001
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001271.4(CHD2):c.1995G>A (p.Pro665=) rs747900073 0.00001
NM_001271.4(CHD2):c.4518G>A (p.Leu1506=) rs557766333 0.00001
NM_001271.4(CHD2):c.4724G>C (p.Gly1575Ala) rs746506782 0.00001
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294 0.00001
NM_001271.4(CHD2):c.849A>G (p.Val283=) rs1476764301 0.00001
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser) rs755167459 0.00001
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=) rs773921712 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247 0.00001
NM_001323289.2(CDKL5):c.463+8A>G rs769244237 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=) rs1170498240 0.00001
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=) rs371712630 0.00001
NM_001330260.2(SCN8A):c.3150T>G (p.Gly1050=) rs552307188 0.00001
NM_001330260.2(SCN8A):c.485+17T>C rs748436294 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.888C>G (p.Gly296=) rs565852557 0.00001
NM_001353921.2(ARHGEF9):c.1077+13C>G rs782189949 0.00001
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089 0.00001
NM_001353921.2(ARHGEF9):c.31-16C>T rs782420279 0.00001
NM_001353921.2(ARHGEF9):c.403-19G>A rs782062229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001365999.1(SZT2):c.7185A>G (p.Ser2395=) rs1654894278 0.00001
NM_001365999.1(SZT2):c.780C>T (p.Ile260=) rs375794037 0.00001
NM_001365999.1(SZT2):c.8151+11C>T rs78750047 0.00001
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln) rs570514826 0.00001
NM_001958.5(EEF1A2):c.1029+4G>C rs945481319 0.00001
NM_001958.5(EEF1A2):c.1339G>A (p.Gly447Ser) rs934642118 0.00001
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly) rs1174537633 0.00001
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala) rs768321389 0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=) rs777674120 0.00001
NM_003159.3(CDKL5):c.2980+20C>T rs181859624 0.00001
NM_003165.6(STXBP1):c.1765G>A (p.Glu589Lys) rs144054444 0.00001
NM_003165.6(STXBP1):c.1772C>G (p.Ser591Cys) rs1842136149 0.00001
NM_004408.4(DNM1):c.1196+4C>T rs1445161696 0.00001
NM_004408.4(DNM1):c.1298C>T (p.Ser433Leu) rs762000203 0.00001
NM_004408.4(DNM1):c.1330A>G (p.Lys444Glu) rs756764400 0.00001
NM_004408.4(DNM1):c.1423-8C>A rs555786484 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.1889T>C (p.Val630Ala) rs1295777740 0.00001
NM_004408.4(DNM1):c.1906-6T>C rs138961089 0.00001
NM_004408.4(DNM1):c.2318+10C>T rs755903943 0.00001
NM_004408.4(DNM1):c.2360C>T (p.Ala787Val) rs1363606775 0.00001
NM_004408.4(DNM1):c.2561G>A (p.Arg854His) rs781345149 0.00001
NM_004408.4(DNM1):c.474C>T (p.Asp158=) rs568247101 0.00001
NM_004408.4(DNM1):c.543G>A (p.Leu181=) rs759118746 0.00001
NM_004408.4(DNM1):c.748G>A (p.Ala250Thr) rs1422655933 0.00001
NM_004974.4(KCNA2):c.555G>A (p.Leu185=) rs553243804 0.00001
NM_004974.4(KCNA2):c.891G>T (p.Arg297=) rs538914802 0.00001
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) rs770677266 0.00001
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu) rs374024543 0.00001
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile) rs775433680 0.00001
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) rs1984201256 0.00001
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser) rs778296598 0.00001
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) rs748597382 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp) rs780469478 0.00001
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His) rs185422169 0.00001
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser) rs1314041160 0.00001
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_014334.4(FRRS1L):c.426T>C (p.Gly142=) rs199500767 0.00001
NM_014334.4(FRRS1L):c.710-4A>C rs372086662 0.00001
NM_015192.4(PLCB1):c.2414-14T>G rs755970261 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_016373.4(WWOX):c.538A>G (p.Met180Val) rs569297468 0.00001
NM_020822.3(KCNT1):c.1257C>G (p.Val419=) rs547714141 0.00001
NM_020988.3(GNAO1):c.274G>A (p.Gly92Ser) rs1309389793 0.00001
NM_020988.3(GNAO1):c.338G>A (p.Arg113Gln) rs956210011 0.00001
NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser) rs374115337 0.00001
NM_020988.3(GNAO1):c.399C>T (p.Gly133=) rs556058539 0.00001
NM_020988.3(GNAO1):c.464+18C>T rs568682649 0.00001
NM_021072.4(HCN1):c.2231C>T (p.Pro744Leu) rs1252725512 0.00001
NM_021072.4(HCN1):c.828A>G (p.Arg276=) rs1417499521 0.00001
NM_031844.3(HNRNPU):c.1405A>G (p.Ile469Val) rs370427995 0.00001
NM_031844.3(HNRNPU):c.1743+4C>T rs115917666 0.00001
NM_031844.3(HNRNPU):c.206G>C (p.Arg69Pro) rs754427497 0.00001
NM_031844.3(HNRNPU):c.2167+15A>C rs780932517 0.00001
NM_031844.3(HNRNPU):c.2168-6T>A rs1283465496 0.00001
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_139318.5(KCNH5):c.1202G>A (p.Arg401His) rs1461051682 0.00001
NM_139318.5(KCNH5):c.1513G>A (p.Val505Ile) rs1480621890 0.00001
NM_139318.5(KCNH5):c.15G>C (p.Lys5Asn) rs775719605 0.00001
NM_139318.5(KCNH5):c.1822+18A>C rs572126581 0.00001
NM_139318.5(KCNH5):c.1847T>A (p.Ile616Asn) rs753938626 0.00001
NM_139318.5(KCNH5):c.195C>T (p.Cys65=) rs552906500 0.00001
NM_139318.5(KCNH5):c.2152G>C (p.Glu718Gln) rs1308657380 0.00001
NM_139318.5(KCNH5):c.2242A>G (p.Thr748Ala) rs751206598 0.00001
NM_139318.5(KCNH5):c.2335C>T (p.Arg779Cys) rs200292403 0.00001
NM_139318.5(KCNH5):c.2447A>G (p.Asn816Ser) rs756083906 0.00001
NM_139318.5(KCNH5):c.2631G>A (p.Lys877=) rs759173309 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217 0.00001
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=) rs536366837 0.00001
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=) rs775450377 0.00001
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854 0.00001
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys) rs1374242563 0.00001
NM_177550.5(SLC13A5):c.717-16C>T rs558529852 0.00001
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=) rs574400482 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NC_000021.8:g.(?_44836602)_(44837674_?)dup
NC_000021.8:g.(?_44836622)_(44837654_?)dup
NC_000021.8:g.(?_44836622)_(44837664_?)dup
NC_000023.11:g.18650479G>T
NC_000023.11:g.18650611C>T
NC_000023.11:g.18650612C>G
NC_000023.11:g.18653413G>A
NM_000330.4(RS1):c.185-3110G>T
NM_000330.4(RS1):c.185-3260C>T rs866859766
NM_000702.4(ATP1A2):c.1104G>A (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=) rs547954866
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.1326+8del rs763762298
NM_000702.4(ATP1A2):c.1651+49C>T rs57074721
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1652-7C>G rs200102433
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2841-20dup rs397775888
NM_000702.4(ATP1A2):c.3034+61G>A rs55884181
NM_000702.4(ATP1A2):c.471T>C (p.Asp157=) rs553035942
NM_000702.4(ATP1A2):c.631-16A>G rs571618030
NM_000702.4(ATP1A2):c.660G>A (p.Ser220=) rs564452950
NM_000812.4(GABRB1):c.80+24_80+25del rs72416056
NM_000812.4(GABRB1):c.846A>G (p.Thr282=) rs6289
NM_000834.5(GRIN2B):c.1103A>C (p.Asn368Thr) rs1314805334
NM_000834.5(GRIN2B):c.1146G>C (p.Lys382Asn)
NM_000834.5(GRIN2B):c.1147T>A (p.Ser383Thr) rs199671864
NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=) rs202139349
NM_000834.5(GRIN2B):c.1655-12dup rs768388356
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe) rs1865821627
NM_000834.5(GRIN2B):c.189C>A (p.Ser63=) rs199707487
NM_000834.5(GRIN2B):c.2172-10del rs761900678
NM_000834.5(GRIN2B):c.2172-15dup rs761900678
NM_000834.5(GRIN2B):c.2202A>G (p.Ala734=) rs148185805
NM_000834.5(GRIN2B):c.2552T>C (p.Met851Thr)
NM_000834.5(GRIN2B):c.2665G>A (p.Ala889Thr) rs756224637
NM_000834.5(GRIN2B):c.2717A>G (p.Lys906Arg)
NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)
NM_000834.5(GRIN2B):c.274C>A (p.Arg92=) rs1436757161
NM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg) rs1865819544
NM_000834.5(GRIN2B):c.2810A>G (p.His937Arg) rs1168893427
NM_000834.5(GRIN2B):c.2960A>G (p.His987Arg) rs765183831
NM_000834.5(GRIN2B):c.2975A>G (p.His992Arg) rs1555102461
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000834.5(GRIN2B):c.3082C>T (p.Pro1028Ser)
NM_000834.5(GRIN2B):c.3127T>G (p.Ser1043Ala) rs1251332746
NM_000834.5(GRIN2B):c.3160G>A (p.Asp1054Asn)
NM_000834.5(GRIN2B):c.3340C>T (p.Pro1114Ser) rs2136404905
NM_000834.5(GRIN2B):c.3344G>A (p.Arg1115His) rs199514711
NM_000834.5(GRIN2B):c.3389G>T (p.Arg1130Leu) rs148625092
NM_000834.5(GRIN2B):c.3413G>T (p.Arg1138Leu) rs187979330
NM_000834.5(GRIN2B):c.3473G>T (p.Arg1158Leu) rs143955920
NM_000834.5(GRIN2B):c.3497C>G (p.Ser1166Cys)
NM_000834.5(GRIN2B):c.3543C>A (p.His1181Gln) rs866476716
NM_000834.5(GRIN2B):c.3550G>A (p.Gly1184Ser)
NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)
NM_000834.5(GRIN2B):c.3641T>C (p.Phe1214Ser)
NM_000834.5(GRIN2B):c.3673T>A (p.Tyr1225Asn) rs1591605873
NM_000834.5(GRIN2B):c.3703G>A (p.Gly1235Ser) rs886049099
NM_000834.5(GRIN2B):c.3722G>A (p.Arg1241Gln) rs2136403871
NM_000834.5(GRIN2B):c.3886A>C (p.Asn1296His) rs1555101871
NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu) rs765133670
NM_000834.5(GRIN2B):c.3943G>A (p.Ala1315Thr)
NM_000834.5(GRIN2B):c.3950T>C (p.Leu1317Pro) rs2136403363
NM_000834.5(GRIN2B):c.3964G>T (p.Val1322Leu)
NM_000834.5(GRIN2B):c.3991A>C (p.Met1331Leu) rs1338505023
NM_000834.5(GRIN2B):c.4021G>C (p.Glu1341Gln)
NM_000834.5(GRIN2B):c.4031C>T (p.Ala1344Val) rs759438353
NM_000834.5(GRIN2B):c.4075G>T (p.Ala1359Ser) rs2136403015
NM_000834.5(GRIN2B):c.4102G>T (p.Gly1368Cys)
NM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val)
NM_000834.5(GRIN2B):c.4162A>G (p.Ile1388Val)
NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg) rs779830552
NM_000834.5(GRIN2B):c.4289T>C (p.Val1430Ala)
NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe) rs1002108827
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000834.5(GRIN2B):c.4337T>A (p.Ile1446Asn)
NM_000834.5(GRIN2B):c.465C>A (p.Ser155=) rs115189840
NM_000834.5(GRIN2B):c.511A>G (p.Ile171Val)
NM_000834.5(GRIN2B):c.627G>A (p.Leu209=)
NM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr) rs79962661
NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu) rs200727145
NM_000834.5(GRIN2B):c.856G>C (p.Asp286His)
NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser) rs1863522709
NM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr) rs746004289
NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)
NM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr) rs931791422
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg) rs1555132930
NM_000944.5(PPP3CA):c.58+74_58+75delinsCG
NM_001032221.6(STXBP1):c.1029+7C>T rs2131497503
NM_001032221.6(STXBP1):c.1111-20A>G
NM_001032221.6(STXBP1):c.1202C>T (p.Thr401Ile) rs756159322
NM_001032221.6(STXBP1):c.1461+4A>G
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.243G>A (p.Glu81=)
NM_001032221.6(STXBP1):c.247-9del rs776049050
NM_001032221.6(STXBP1):c.247-9dup rs776049050
NM_001032221.6(STXBP1):c.25G>A (p.Val9Ile) rs1262952349
NM_001032221.6(STXBP1):c.302C>T (p.Ala101Val) rs776064372
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.464G>A (p.Ser155Asn) rs1841134073
NM_001032221.6(STXBP1):c.478C>A (p.His160Asn) rs1841134699
NM_001032221.6(STXBP1):c.502A>G (p.Ile168Val)
NM_001032221.6(STXBP1):c.681C>G (p.Arg227=) rs553892771
NM_001032221.6(STXBP1):c.794+23del rs112440418
NM_001032221.6(STXBP1):c.902+19C>A rs767072467
NM_001032221.6(STXBP1):c.942G>T (p.Lys314Asn)
NM_001037333.3(CYFIP2):c.283dup (p.Gln95fs) rs5872508
NM_001040142.2(SCN2A):c.2150-8del rs746100466
NM_001040142.2(SCN2A):c.2385C>T (p.Asn795=)
NM_001040142.2(SCN2A):c.3520+10del rs955426239
NM_001040142.2(SCN2A):c.3840G>C (p.Leu1280=)
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=) rs200941759
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001042646.3(TRAK1):c.*42CTC[1] rs3836498
NM_001042646.3(TRAK1):c.1963+101GGA[12] rs10634555
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
NM_001099922.3(ALG13):c.1250+8del rs2148114059
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
NM_001099922.3(ALG13):c.2248-14TC[2] rs746217514
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2457+16T>C
NM_001099922.3(ALG13):c.2457+17A>C
NM_001099922.3(ALG13):c.2752_2753insACC (p.Ser917_Leu918insHis)
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2795_2796insCCT (p.Pro932_Pro933insLeu)
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
NM_001099922.3(ALG13):c.383+2786C>T
NM_001099922.3(ALG13):c.383+8A>G
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
NM_001099922.3(ALG13):c.82-10C>T
NM_001099922.3(ALG13):c.834+14A>G
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys) rs2057768031
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val)
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=)
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=)
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) rs529584159
NM_001127222.2(CACNA1A):c.3693-19G>A
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.3989+13G>T rs373480312
NM_001127222.2(CACNA1A):c.3990-9C>T
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)
NM_001127222.2(CACNA1A):c.4950+15A>C rs755685706
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.5840-15TG[5] rs772598066
NM_001127222.2(CACNA1A):c.5940+14C>A rs374115419
NM_001127222.2(CACNA1A):c.6050+14del rs755362952
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.632-3dup rs2059191701
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001130438.3(SPTAN1):c.1086-17_1086-14del rs768027782
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1769A>G (p.Asn590Ser) rs1034518674
NM_001130438.3(SPTAN1):c.1957A>T (p.Met653Leu) rs191761343
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln) rs765075763
NM_001130438.3(SPTAN1):c.3156-4G>A rs549061995
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3220C>A (p.His1074Asn) rs1349491364
NM_001130438.3(SPTAN1):c.3283A>C (p.Met1095Leu) rs2131360708
NM_001130438.3(SPTAN1):c.3323A>G (p.Asn1108Ser)
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr) rs564155435
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4046+6G>A rs1589298035
NM_001130438.3(SPTAN1):c.4047-14G>T rs558154123
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.5044-10del
NM_001130438.3(SPTAN1):c.5083C>T (p.Leu1695=)
NM_001130438.3(SPTAN1):c.5149-3dup rs2131743536
NM_001130438.3(SPTAN1):c.5423G>A (p.Arg1808Lys) rs2131791086
NM_001130438.3(SPTAN1):c.6427T>G (p.Ser2143Ala) rs1356195027
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6577-13del
NM_001130438.3(SPTAN1):c.6577-13dup rs761170802
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.6763-11del rs1242521066
NM_001130438.3(SPTAN1):c.6763-6C>A rs543227930
NM_001130438.3(SPTAN1):c.6763-6del
NM_001130438.3(SPTAN1):c.7014-13C>T
NM_001130438.3(SPTAN1):c.7014-16C>A
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7160+6T>C rs1218914219
NM_001130438.3(SPTAN1):c.7161-9C>G rs187613754
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130438.3(SPTAN1):c.785+20T>C rs529962403
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.3(SPTAN1):c.930+9dup
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.1501A>C (p.Arg501=)
NM_001165963.4(SCN1A):c.1509A>G (p.Lys503=)
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.1554T>G (p.Asp518Glu)
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2044-6_2044-5dup
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.264+13dup
NM_001165963.4(SCN1A):c.2947-4del
NM_001165963.4(SCN1A):c.3524T>C (p.Leu1175Pro)
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.3706-12dup rs1692588027
NM_001165963.4(SCN1A):c.3880-11del
NM_001165963.4(SCN1A):c.4002+2650del
NM_001165963.4(SCN1A):c.4284+18del
NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.474-17del
NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=) rs554861427
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001191061.2(SLC25A22):c.20+18dup rs796053236
NM_001191061.2(SLC25A22):c.203-11del
NM_001191061.2(SLC25A22):c.742+19G>A rs373084007
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2] rs777798547
NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1]) rs763708603
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile) rs370910420
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.5140-12del rs752600141
NM_001205293.3(CACNA1E):c.5470+11_5470+15del rs3830692
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=) rs35611740
NM_001271.4(CHD2):c.1199-12del rs750508601
NM_001271.4(CHD2):c.1199-12dup
NM_001271.4(CHD2):c.2949G>A (p.Leu983=)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3595+18dup rs767906397
NM_001271.4(CHD2):c.4008+8C>A
NM_001271.4(CHD2):c.4279-6dup rs747909672
NM_001271.4(CHD2):c.4413+21del
NM_001271.4(CHD2):c.4593-3del rs1270315601
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr) rs761860129
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu) rs1478847821
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile) rs267608629
NM_001323289.2(CDKL5):c.145+4_145+5dup rs776844003
NM_001323289.2(CDKL5):c.145+5AT[10] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14] rs745969938
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
NM_001323289.2(CDKL5):c.2152+18A>G
NM_001323289.2(CDKL5):c.2153-18T>G
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2277-13T>C
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
NM_001323289.2(CDKL5):c.977+7A>G rs770011012
NM_001330260.2(SCN8A):c.1635+17dup rs756694666
NM_001330260.2(SCN8A):c.1636-16del rs754973942
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1960G>A (p.Gly654Ser) rs905574009
NM_001330260.2(SCN8A):c.1969T>G (p.Ser657Ala) rs1429377869
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.1999-5dup rs769940455
NM_001330260.2(SCN8A):c.2131+7G>T rs756286753
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2475C>A (p.Val825=) rs535061303
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2545-8_2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_001330260.2(SCN8A):c.3384C>A (p.Asp1128Glu) rs1444975127
NM_001330260.2(SCN8A):c.4419+15dup
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001330723.2(SNX27):c.1240-3del
NM_001330723.2(SNX27):c.1240-3dup rs61159507
NM_001330723.2(SNX27):c.1240-4_1240-3del rs61159507
NM_001330723.2(SNX27):c.1519-4dup rs540332829
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.801+19del rs2102681542
NM_001353921.2(ARHGEF9):c.1321+16G>T
NM_001353921.2(ARHGEF9):c.1322-10del
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) rs374753195
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
NM_001353921.2(ARHGEF9):c.30+10T>C
NM_001353921.2(ARHGEF9):c.583-13del
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) rs782497496
NM_001353921.2(ARHGEF9):c.816-12_816-11del rs781845457
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365999.1(SZT2):c.154-37G>C rs710249
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2550+5G>T rs41270349
NM_001365999.1(SZT2):c.5905-13C>G rs200996082
NM_001365999.1(SZT2):c.6508+16G>T rs2782648
NM_001365999.1(SZT2):c.675G>A (p.Lys225=) rs564963914
NM_001365999.1(SZT2):c.7812T>A (p.Ala2604=) rs551577660
NM_001365999.1(SZT2):c.7874-16C>G rs72883828
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) rs534948696
NM_001367561.1(DOCK7):c.1283-14del rs541344421
NM_001367561.1(DOCK7):c.1283-14dup rs541344421
NM_001367561.1(DOCK7):c.1520-17dup
NM_001367561.1(DOCK7):c.1683-15199A>G rs77871363
NM_001367561.1(DOCK7):c.1872-9del rs199915737
NM_001367561.1(DOCK7):c.1872-9dup rs199915737
NM_001367561.1(DOCK7):c.3046-4dup rs574290909
NM_001367561.1(DOCK7):c.321-4del
NM_001367561.1(DOCK7):c.3781+15_3781+56del rs533117910
NM_001367561.1(DOCK7):c.541A>G (p.Met181Val) rs61743961
NM_001367561.1(DOCK7):c.5962-7del rs2149258818
NM_001367561.1(DOCK7):c.6381-6dup rs773882812
NM_001367561.1(DOCK7):c.819-11dup
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001378457.1(DMXL2):c.7520+35del rs10706765
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001958.5(EEF1A2):c.1265-10del rs1170731512
NM_001958.5(EEF1A2):c.1265-15dup rs1170731512
NM_001958.5(EEF1A2):c.1265-3del
NM_001958.5(EEF1A2):c.1275C>A (p.Ala425=) rs1290491559
NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=) rs367803280
NM_001958.5(EEF1A2):c.150G>T (p.Gly50=) rs751627255
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
NM_002641.4(PIGA):c.849-20C>T
NM_003159.3(CDKL5):c.2714-10del
NM_004204.5(PIGQ):c.1224-63C>T rs59476302
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=) rs1045274
NM_004204.5(PIGQ):c.942+92A>C rs2071980
NM_004408.4(DNM1):c.1047T>G (p.Asp349Glu) rs1247861339
NM_004408.4(DNM1):c.1123G>A (p.Val375Ile) rs2131174031
NM_004408.4(DNM1):c.1128+4G>A rs768339660
NM_004408.4(DNM1):c.1129-9del rs2131174977
NM_004408.4(DNM1):c.1336-7T>A rs550764968
NM_004408.4(DNM1):c.1375A>G (p.Ile459Val) rs2131227049
NM_004408.4(DNM1):c.1427T>C (p.Met476Thr) rs2131251361
NM_004408.4(DNM1):c.1493+14del rs371426966
NM_004408.4(DNM1):c.2076+23del rs1237872802
NM_004408.4(DNM1):c.2156C>G (p.Ala719Gly) rs1432815882
NM_004408.4(DNM1):c.2467C>G (p.Pro823Ala) rs2131299716
NM_004408.4(DNM1):c.2467C>T (p.Pro823Ser) rs2131299716
NM_004408.4(DNM1):c.2582C>G (p.Pro861Arg) rs187315526
NM_004408.4(DNM1):c.6C>T (p.Gly2=) rs1833612492
NM_004408.4(DNM1):c.825C>G (p.Pro275=) rs1588357060
NM_004408.4(DNM1):c.84C>T (p.Asp28=)
NM_004408.4(DNM1):c.992+13C>T
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=) rs78349687
NM_004975.4(KCNB1):c.101G>A (p.Arg34His) rs2122803857
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val) rs1159101104
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly) rs947355756
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn)
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile) rs2229006
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp)
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val) rs771932289
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) rs754927664
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu) rs754927664
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val) rs1392516083
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His)
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu) rs144379782
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) rs754428005
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val) rs1451585001
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr) rs774577428
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) rs774577428
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn) rs1209493320
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met) rs140932985
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu) rs1249019020
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr) rs373423740
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg) rs2146811699
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro) rs1984172893
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser) rs1984172647
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg) rs1279418021
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) rs1984274983
NM_004975.4(KCNB1):c.78C>T (p.Ser26=) rs1194383095
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
NM_006030.4(CACNA2D2):c.1261-5C>A rs201656322
NM_006030.4(CACNA2D2):c.1261-5dup
NM_006030.4(CACNA2D2):c.1552-17del rs745581345
NM_006030.4(CACNA2D2):c.1552-17dup
NM_006030.4(CACNA2D2):c.1774-19A>T
NM_006030.4(CACNA2D2):c.1985-14del rs1260540618
NM_006030.4(CACNA2D2):c.1985-14dup
NM_006030.4(CACNA2D2):c.2402-14del rs2109407626
NM_006030.4(CACNA2D2):c.2590-15CT[2] rs773873222
NM_006030.4(CACNA2D2):c.465+11del
NM_006279.5(ST3GAL3):c.1038+8del rs797046013
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006759.4(UGP2):c.1089G>A (p.Leu363=)
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser) rs768382383
NM_007254.4(PNKP):c.1029+15C>G
NM_007254.4(PNKP):c.1030-12del rs1398388252
NM_007254.4(PNKP):c.1127-7dup rs757518270
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1387-48del rs770848795
NM_007254.4(PNKP):c.1387-48dup rs770848795
NM_007254.4(PNKP):c.1387-5del rs1238643725
NM_007254.4(PNKP):c.1387-5dup rs1238643725
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_014334.4(FRRS1L):c.-3_-2delinsGC rs1554736515
NM_015192.4(PLCB1):c.2043+22del rs761743488
NM_015192.4(PLCB1):c.2710+22del rs747461333
NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu) rs2051304754
NM_015267.4(CUX2):c.760G>A (p.Glu254Lys) rs1886461979
NM_015509.4(NECAP1):c.677-17del
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.107+9del rs2151651994
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.525C>G (p.Ala175=)
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_020708.5(SLC12A5):c.52+19del rs1462751577
NM_020708.5(SLC12A5):c.52+21_52+35del rs141158582
NM_020822.3(KCNT1):c.1511-12C>G rs549024643
NM_020822.3(KCNT1):c.1620-10_1620-5dup rs754045989
NM_020822.3(KCNT1):c.1830G>A (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2522+15dup
NM_020822.3(KCNT1):c.2523-5del
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.2944-52CTCC[6] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.3177+12del rs749581375
NM_020822.3(KCNT1):c.3178-26GCCCT[2] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[3] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[5] rs757968008
NM_020822.3(KCNT1):c.3420G>A (p.Leu1140=)
NM_020822.3(KCNT1):c.540+23del rs759524379
NM_020822.3(KCNT1):c.600+11G>A rs375220600
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.601-13del
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro) rs764163914
NM_020822.3(KCNT1):c.759+18del
NM_020822.3(KCNT1):c.759+18dup
NM_020988.3(GNAO1):c.117C>G (p.Leu39=) rs747565910
NM_020988.3(GNAO1):c.119-10G>A rs2143271948
NM_020988.3(GNAO1):c.275G>A (p.Gly92Asp)
NM_020988.3(GNAO1):c.343G>A (p.Glu115Lys) rs2143647007
NM_020988.3(GNAO1):c.496G>A (p.Ala166Thr) rs375960435
NM_020988.3(GNAO1):c.723+20dup
NM_021072.4(HCN1):c.1231-13C>T
NM_021072.4(HCN1):c.159C>A (p.His53Gln)
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del) rs56064803
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.252C>T (p.Ala84=) rs573050222
NM_021072.4(HCN1):c.2635C>A (p.Pro879Thr) rs761866949
NM_021072.4(HCN1):c.426-12del rs750563670
NM_021072.4(HCN1):c.426-12dup
NM_021072.4(HCN1):c.426-8_426-5del rs1394225411
NM_021072.4(HCN1):c.45C>T (p.Asp15=)
NM_021911.3(GABRB2):c.-152-8del rs56867928
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.3(HNRNPU):c.1017+8C>T rs1553283026
NM_031844.3(HNRNPU):c.1231-12dup
NM_031844.3(HNRNPU):c.1391A>G (p.Lys464Arg) rs1573331728
NM_031844.3(HNRNPU):c.1494+19_1494+21del
NM_031844.3(HNRNPU):c.1494+20_1494+21del
NM_031844.3(HNRNPU):c.1494+21del rs750413170
NM_031844.3(HNRNPU):c.1495-10_1495-6del rs759862936
NM_031844.3(HNRNPU):c.1743+5G>A
NM_031844.3(HNRNPU):c.1744-11dup rs770379796
NM_031844.3(HNRNPU):c.2168-3dup
NM_031844.3(HNRNPU):c.2237G>T (p.Ser746Ile) rs1051595756
NM_031844.3(HNRNPU):c.2296T>G (p.Ser766Ala) rs746732226
NM_031844.3(HNRNPU):c.2315A>G (p.Asn772Ser)
NM_031844.3(HNRNPU):c.359C>G (p.Pro120Arg) rs1455165658
NM_031844.3(HNRNPU):c.374_375delinsCC (p.Glu125Ala) rs1680928684
NM_031844.3(HNRNPU):c.441C>G (p.Asp147Glu) rs539279281
NM_031844.3(HNRNPU):c.451G>A (p.Gly151Ser)
NM_031844.3(HNRNPU):c.487C>T (p.Pro163Ser)
NM_031844.3(HNRNPU):c.506A>G (p.Gln169Arg) rs1680924291
NM_031844.3(HNRNPU):c.528G>C (p.Gln176His)
NM_031844.3(HNRNPU):c.542A>C (p.Lys181Thr)
NM_031844.3(HNRNPU):c.542A>G (p.Lys181Arg) rs747403316
NM_031844.3(HNRNPU):c.557A>T (p.Lys186Met)
NM_031844.3(HNRNPU):c.607G>C (p.Ala203Pro)
NM_031844.3(HNRNPU):c.687G>A (p.Ala229=)
NM_031844.3(HNRNPU):c.878-9T>C rs573967558
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139318.5(KCNH5):c.1362G>A (p.Met454Ile) rs2140130309
NM_139318.5(KCNH5):c.1680C>A (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1802A>G (p.Asp601Gly) rs2139999949
NM_139318.5(KCNH5):c.1823-5del rs1367114879
NM_139318.5(KCNH5):c.197+6T>G rs2139607542
NM_139318.5(KCNH5):c.198-10del rs36103415
NM_139318.5(KCNH5):c.198-17dup rs36103415
NM_139318.5(KCNH5):c.198-9dup rs752865520
NM_139318.5(KCNH5):c.2171C>T (p.Ser724Leu)
NM_139318.5(KCNH5):c.2242A>T (p.Thr748Ser) rs751206598
NM_139318.5(KCNH5):c.2252G>A (p.Ser751Asn) rs1163598482
NM_139318.5(KCNH5):c.2254G>A (p.Val752Met)
NM_139318.5(KCNH5):c.2335C>A (p.Arg779Ser) rs200292403
NM_139318.5(KCNH5):c.2365G>A (p.Gly789Ser) rs140205536
NM_139318.5(KCNH5):c.2371G>A (p.Asp791Asn)
NM_139318.5(KCNH5):c.2606C>T (p.Thr869Ile)
NM_139318.5(KCNH5):c.2621G>A (p.Arg874His)
NM_139318.5(KCNH5):c.2630A>G (p.Lys877Arg)
NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr) rs376837885
NM_139318.5(KCNH5):c.2830G>A (p.Glu944Lys) rs1259576590
NM_139318.5(KCNH5):c.2860A>G (p.Lys954Glu) rs1884461774
NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys) rs753525158
NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg) rs1271834396
NM_139318.5(KCNH5):c.356A>G (p.Glu119Gly) rs2139591249
NM_139318.5(KCNH5):c.474T>G (p.Asn158Lys) rs1890724757
NM_139318.5(KCNH5):c.6G>T (p.Pro2=) rs141970580
NM_139318.5(KCNH5):c.733A>T (p.Ile245Leu) rs754761406
NM_139318.5(KCNH5):c.74-17dup rs768346675
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile) rs760127525
NM_139318.5(KCNH5):c.894G>C (p.Leu298=) rs142927077
NM_139318.5(KCNH5):c.942+10dup rs769498088
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152743.4(BRAT1):c.1134+14G>A rs372235478
NM_152743.4(BRAT1):c.1233G>A (p.Val411=) rs556970046
NM_152743.4(BRAT1):c.1305G>T (p.Thr435=) rs145506790
NM_152743.4(BRAT1):c.166G>A (p.Val56Met) rs148548421
NM_152743.4(BRAT1):c.1931_1932delinsAG (p.Arg644Gln) rs71531463
NM_152743.4(BRAT1):c.2169T>A (p.Leu723=) rs150300694
NM_152743.4(BRAT1):c.283-10del rs759971408
NM_152743.4(BRAT1):c.566G>T (p.Gly189Val) rs531827528
NM_172107.4(KCNQ2):c.1149-20del rs2145637812
NM_172107.4(KCNQ2):c.1149-3del
NM_172107.4(KCNQ2):c.1302-11C>G rs371007020
NM_172107.4(KCNQ2):c.1302-11C>T rs371007020
NM_172107.4(KCNQ2):c.1302-19_1302-18insTGTCTGTT rs765336709
NM_172107.4(KCNQ2):c.1302-29TGTC[4] rs112006486
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1302-29TGTC[6] rs112006486
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1526-3del rs974502886
NM_172107.4(KCNQ2):c.1526-8dup rs974502886
NM_172107.4(KCNQ2):c.297-3del rs2145790004
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_173354.5(SIK1):c.1463-5del rs1252502732
NM_173354.5(SIK1):c.1463-5dup
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.5(SIK1):c.156+11dup
NM_173354.5(SIK1):c.156+18G>C rs201427751
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser) rs761551726
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) rs1243997625
NM_173354.5(SIK1):c.1976+15del rs2146468542
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met) rs1308366748
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg) rs1227514074
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.748+17C>T rs75559179
NM_173728.4(ARHGEF15):c.1944G>A (p.Arg648=) rs201714597
NM_173728.4(ARHGEF15):c.2519C>A (p.Pro840Gln) rs552154823
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177550.5(SLC13A5):c.1157-68GT[18] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[20] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[21] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[22] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[24] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[25] rs200900896
NM_177550.5(SLC13A5):c.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.1001A>G (p.Asp334Gly) rs2146090425
NM_203446.3(SYNJ1):c.125-6_125-5del rs769191151
NM_203446.3(SYNJ1):c.1510+13T>A rs75688000
NM_203446.3(SYNJ1):c.1510+16_1510+17del rs138729271
NM_203446.3(SYNJ1):c.1812-16del
NM_203446.3(SYNJ1):c.3247+11del
NM_203446.3(SYNJ1):c.3479-18del rs555916409
NM_203446.3(SYNJ1):c.3479-18dup
NM_203446.3(SYNJ1):c.3698-3del
NM_203446.3(SYNJ1):c.706-7del rs202044634
NM_203446.3(SYNJ1):c.706-7dup rs202044634
NM_203446.3(SYNJ1):c.949-9del rs776238595

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