ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy by Genome-Nilou Lab

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1838
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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_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_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_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_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_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_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_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_000702.4(ATP1A2):c.748+84T>A rs7548116 0.58333
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_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_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_004204.5(PIGQ):c.639C>T (p.Cys213=) rs4984669 0.45828
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
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_004204.5(PIGQ):c.1532-110C>T rs4262946 0.37630
NM_000810.4(GABRA5):c.878-27T>A rs140683 0.36914
NM_015267.4(CUX2):c.3918T>C (p.Asp1306=) rs3803167 0.35918
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_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_006651.4(CPLX1):c.32-5A>G rs2306251 0.29356
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_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_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_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_001271.4(CHD2):c.4692+43A>G rs2119010 0.18154
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_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_006180.6(NTRK2):c.1937+13G>A rs2289656 0.15606
NM_001205293.3(CACNA1E):c.1639-19G>A rs4651113 0.15248
NM_000702.4(ATP1A2):c.495+96G>A rs17846707 0.15041
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_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_001037333.3(CYFIP2):c.2079+9T>C rs2289850 0.11382
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_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_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_015192.4(PLCB1):c.1009+26C>G rs2273189 0.07044
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
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_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_001367561.1(DOCK7):c.4283-4A>G rs17123688 0.03743
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
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_001365999.1(SZT2):c.5385T>G (p.Ser1795=) rs12129487 0.03117
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=) rs34741608 0.02935
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser) rs41304253 0.02916
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_020822.3(KCNT1):c.1036-15G>A rs112341167 0.02567
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_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_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_001367561.1(DOCK7):c.6255G>A (p.Pro2085=) rs35747851 0.01994
NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=) rs72671125 0.01988
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539 0.01980
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_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_001205293.3(CACNA1E):c.4605+12A>C rs9662282 0.01546
NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) rs114759137 0.01542
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_000702.4(ATP1A2):c.*703G>A rs57902482 0.01488
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_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
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_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=) rs34942364 0.01214
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His) rs147797700 0.01015
NM_001205293.3(CACNA1E):c.373-14C>T rs4083900 0.00970
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) rs116691849 0.00907
NM_020822.3(KCNT1):c.2729+9A>G rs12005420 0.00858
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_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg) rs72883814 0.00798
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_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001205293.3(CACNA1E):c.4606-7T>C rs74444271 0.00757
NM_001365999.1(SZT2):c.5025-17A>G rs149950330 0.00719
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_001365999.1(SZT2):c.7211-13C>G rs116454519 0.00705
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
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_000702.4(ATP1A2):c.*72G>A rs2070701 0.00654
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_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met) rs74127835 0.00634
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993 0.00598
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) rs72649573 0.00591
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001367561.1(DOCK7):c.1392A>G (p.Pro464=) rs116172511 0.00571
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_001205293.3(CACNA1E):c.3263-16C>T rs74127837 0.00543
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=) rs140788949 0.00511
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00509
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_001205293.3(CACNA1E):c.6008G>A (p.Arg2003His) rs189129701 0.00461
NM_001365999.1(SZT2):c.1262-14C>T rs150704592 0.00461
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
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_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) rs149831634 0.00427
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501 0.00419
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00414
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_001205293.3(CACNA1E):c.4329+14G>A rs138957815 0.00394
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_001205293.3(CACNA1E):c.3989+16G>A rs77439656 0.00383
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543 0.00379
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln) rs202202209 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
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_001205293.3(CACNA1E):c.2298-16C>T rs189050461 0.00345
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys) rs74695054 0.00344
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=) rs111619313 0.00330
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_001205293.3(CACNA1E):c.6399+3G>A rs377238885 0.00297
NM_001365999.1(SZT2):c.8499+8A>C rs182225944 0.00297
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443 0.00290
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231 0.00279
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
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_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=) rs115093623 0.00255
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
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_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=) rs200603172 0.00235
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_001205293.3(CACNA1E):c.5853T>C (p.Cys1951=) rs374978888 0.00220
NM_001205293.3(CACNA1E):c.5679+10A>C rs77123326 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 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_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln) rs190363418 0.00207
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
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_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 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_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
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_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 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_001367561.1(DOCK7):c.2700C>T (p.Ser900=) rs35648144 0.00154
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
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_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001367561.1(DOCK7):c.125A>G (p.Asn42Ser) rs143701798 0.00133
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=) rs3856089 0.00131
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) rs147008168 0.00125
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met) rs59558623 0.00125
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=) rs375338599 0.00118
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_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln) rs201406071 0.00113
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
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_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=) rs183065185 0.00105
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949 0.00103
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
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_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_001365999.1(SZT2):c.7975-10C>T rs181831231 0.00100
NM_001365999.1(SZT2):c.3570C>T (p.Val1190=) rs147644619 0.00098
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00098
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887 0.00096
NM_020822.3(KCNT1):c.2350-8G>A rs371678685 0.00096
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_000702.4(ATP1A2):c.2284+18G>T rs369835706 0.00092
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001205293.3(CACNA1E):c.1171+13G>A rs367834352 0.00088
NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=) rs140309222 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_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_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=) rs115927746 0.00085
NM_000702.4(ATP1A2):c.2709+11C>T rs115441094 0.00083
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=) rs142535471 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_000702.4(ATP1A2):c.2563+4C>T rs3747626 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_001365999.1(SZT2):c.9555C>T (p.His3185=) rs150150240 0.00079
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_000702.4(ATP1A2):c.178-21C>T rs199660548 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_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=) rs375018770 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001367561.1(DOCK7):c.2605G>A (p.Gly869Ser) rs201823761 0.00069
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=) rs182225778 0.00068
NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu) rs191359537 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_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_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001365999.1(SZT2):c.9732G>A (p.Pro3244=) rs200250871 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_001365999.1(SZT2):c.1488G>A (p.Thr496=) rs370045267 0.00064
NM_001365999.1(SZT2):c.7641C>T (p.His2547=) rs144699351 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
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_001365999.1(SZT2):c.9887G>T (p.Gly3296Val) rs368272173 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001365999.1(SZT2):c.2038-3C>T rs578153834 0.00060
NM_020822.3(KCNT1):c.1770-16C>T rs192658955 0.00059
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp) rs199930602 0.00058
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_001365999.1(SZT2):c.9201C>T (p.His3067=) rs114396679 0.00056
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_001365999.1(SZT2):c.1791C>T (p.His597=) rs151110718 0.00055
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968 0.00055
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) rs150966402 0.00054
NM_001205293.3(CACNA1E):c.1315+12C>G rs373180436 0.00053
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 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_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00048
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val) rs200469194 0.00047
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713 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_001365999.1(SZT2):c.9828C>T (p.Asp3276=) rs12756587 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_001099922.3(ALG13):c.1006-14G>A rs760527824 0.00045
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00045
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00045
NM_020822.3(KCNT1):c.3502+12C>T rs367727105 0.00043
NM_020822.3(KCNT1):c.760-19G>A rs375929015 0.00043
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001205293.3(CACNA1E):c.3263-13G>A rs368969096 0.00040
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 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_001365999.1(SZT2):c.5937C>T (p.His1979=) rs149717460 0.00038
NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln) rs200443293 0.00038
NM_001365999.1(SZT2):c.6582A>G (p.Thr2194=) rs145802078 0.00038
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_001367561.1(DOCK7):c.4368G>A (p.Glu1456=) rs149367921 0.00036
NM_001205293.3(CACNA1E):c.5898+10T>C rs375791346 0.00035
NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu) rs149778841 0.00035
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 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_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607 0.00033
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys) rs200113695 0.00033
NM_001365999.1(SZT2):c.2774A>T (p.Lys925Met) rs146937951 0.00033
NM_001365999.1(SZT2):c.4210C>T (p.Arg1404Cys) rs150269825 0.00033
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086 0.00033
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) rs373047934 0.00031
NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser) rs144139818 0.00031
NM_001365999.1(SZT2):c.2499C>T (p.Phe833=) rs777334279 0.00030
NM_020822.3(KCNT1):c.2008+7C>T rs372707698 0.00030
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
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_001367561.1(DOCK7):c.1265T>C (p.Val422Ala) rs199708701 0.00029
NM_001367561.1(DOCK7):c.6018G>A (p.Glu2006=) rs143414077 0.00029
NM_020822.3(KCNT1):c.334+10G>A rs185209587 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001205293.3(CACNA1E):c.5710C>A (p.Pro1904Thr) rs149629433 0.00028
NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) rs144068763 0.00028
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001365999.1(SZT2):c.1335A>T (p.Ala445=) rs377411973 0.00027
NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) rs146032445 0.00027
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010 0.00027
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001367561.1(DOCK7):c.2908A>G (p.Ser970Gly) rs199681303 0.00026
NM_020822.3(KCNT1):c.759+13G>A rs375237065 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 0.00025
NM_001205293.3(CACNA1E):c.617-16C>T rs113730525 0.00025
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) rs144176855 0.00025
NM_001367561.1(DOCK7):c.156C>T (p.Thr52=) rs147045113 0.00025
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399 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_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile) rs368636412 0.00024
NM_001205293.3(CACNA1E):c.6483C>T (p.Pro2161=) rs370456526 0.00024
NM_001365999.1(SZT2):c.1296G>A (p.Leu432=) rs769656441 0.00024
NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys) rs199830565 0.00024
NM_001365999.1(SZT2):c.9172G>A (p.Val3058Met) rs143959495 0.00024
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510 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_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001365999.1(SZT2):c.8148A>G (p.Glu2716=) rs199826167 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_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529 0.00022
NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) rs149741610 0.00022
NM_001365999.1(SZT2):c.6956C>T (p.Pro2319Leu) rs150979208 0.00022
NM_001367561.1(DOCK7):c.2113-18A>G rs201000785 0.00022
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113 0.00021
NM_001205293.3(CACNA1E):c.3540G>A (p.Ser1180=) rs376599965 0.00021
NM_001205293.3(CACNA1E):c.5267+20G>A rs375721145 0.00021
NM_001365999.1(SZT2):c.1458T>C (p.Arg486=) rs376484331 0.00021
NM_001365999.1(SZT2):c.368A>G (p.His123Arg) rs147519875 0.00021
NM_001365999.1(SZT2):c.528T>C (p.Pro176=) rs780340130 0.00021
NM_001367561.1(DOCK7):c.2932C>T (p.Arg978Cys) rs750049987 0.00021
NM_001367561.1(DOCK7):c.4653T>C (p.Ala1551=) rs150922364 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_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144 0.00021
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met) rs371974841 0.00020
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058 0.00020
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_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu) rs566701744 0.00019
NM_001365999.1(SZT2):c.3368G>A (p.Arg1123His) rs138477355 0.00019
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) rs138303356 0.00019
NM_001365999.1(SZT2):c.8775G>C (p.Gln2925His) rs762236975 0.00019
NM_001367561.1(DOCK7):c.1585C>T (p.Leu529Phe) rs142744313 0.00019
NM_001367561.1(DOCK7):c.160G>A (p.Ala54Thr) rs150216310 0.00019
NM_001367561.1(DOCK7):c.3781+4C>G rs372305581 0.00019
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln) rs138914992 0.00019
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=) rs202231787 0.00019
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00019
NM_020822.3(KCNT1):c.3027+18C>T rs369541323 0.00019
NM_020822.3(KCNT1):c.3178-16G>T rs55906268 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001365999.1(SZT2):c.9452A>G (p.Tyr3151Cys) rs143392721 0.00018
NM_001367561.1(DOCK7):c.1292G>C (p.Gly431Ala) rs201785444 0.00018
NM_001367561.1(DOCK7):c.3641A>G (p.Asn1214Ser) rs372600148 0.00018
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_001365999.1(SZT2):c.5813T>C (p.Ile1938Thr) rs139028174 0.00017
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001365999.1(SZT2):c.2788C>T (p.Leu930=) rs148208657 0.00016
NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=) rs373992628 0.00016
NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=) rs532810601 0.00016
NM_001367561.1(DOCK7):c.2578C>A (p.Pro860Thr) rs150032045 0.00016
NM_001367561.1(DOCK7):c.3717C>G (p.Ala1239=) rs375372678 0.00016
NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=) rs373928701 0.00016
NM_001367561.1(DOCK7):c.4844T>A (p.Phe1615Tyr) rs148491210 0.00016
NM_001367561.1(DOCK7):c.5208A>T (p.Val1736=) rs144604663 0.00016
NM_020822.3(KCNT1):c.2008+19G>A rs369119562 0.00016
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145 0.00016
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448 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_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr) rs202118773 0.00015
NM_001365999.1(SZT2):c.9795G>C (p.Leu3265=) rs569613488 0.00015
NM_020822.3(KCNT1):c.2350-10C>T rs367855961 0.00015
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.1113G>A (p.Arg371=) rs1364900476 0.00014
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr) rs560469774 0.00014
NM_001365999.1(SZT2):c.1613G>C (p.Gly538Ala) rs764307422 0.00014
NM_001365999.1(SZT2):c.2034C>T (p.His678=) rs201529142 0.00014
NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=) rs146416049 0.00014
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768 0.00014
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782 0.00014
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_001365999.1(SZT2):c.2228A>G (p.His743Arg) rs545593466 0.00013
NM_001365999.1(SZT2):c.3502G>T (p.Asp1168Tyr) rs887336448 0.00013
NM_001365999.1(SZT2):c.653C>T (p.Ser218Leu) rs376862612 0.00013
NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His) rs144218947 0.00013
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=) rs372935996 0.00013
NM_001365999.1(SZT2):c.9260A>G (p.His3087Arg) rs758905735 0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00013
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.4527C>A (p.Asp1509Glu) rs139113273 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_001365999.1(SZT2):c.3443G>A (p.Arg1148His) rs142611359 0.00012
NM_001365999.1(SZT2):c.7671C>T (p.Ile2557=) rs201311847 0.00012
NM_001365999.1(SZT2):c.9630C>T (p.Arg3210=) rs773985024 0.00012
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019 0.00012
NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) rs372491855 0.00012
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=) rs142534422 0.00012
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322 0.00012
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100 0.00012
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_001205293.3(CACNA1E):c.3731+13G>A rs372306099 0.00011
NM_001365999.1(SZT2):c.3838G>A (p.Ala1280Thr) rs141075866 0.00011
NM_001365999.1(SZT2):c.4211G>A (p.Arg1404His) rs149353601 0.00011
NM_001365999.1(SZT2):c.5161C>T (p.His1721Tyr) rs376678520 0.00011
NM_001365999.1(SZT2):c.5910G>C (p.Leu1970=) rs151260299 0.00011
NM_001365999.1(SZT2):c.6306C>G (p.Ser2102=) rs1009175468 0.00011
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp) rs773708821 0.00011
NM_001367561.1(DOCK7):c.2020A>G (p.Met674Val) rs115733789 0.00011
NM_001367561.1(DOCK7):c.4056A>G (p.Ser1352=) rs144949335 0.00011
NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala) rs777656293 0.00011
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215 0.00011
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 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_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr) rs142822925 0.00010
NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=) rs762242384 0.00010
NM_001365999.1(SZT2):c.1881C>T (p.Phe627=) rs749921213 0.00010
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994 0.00010
NM_001367561.1(DOCK7):c.2882G>A (p.Arg961His) rs376417713 0.00010
NM_001367561.1(DOCK7):c.4415A>G (p.Asp1472Gly) rs770382237 0.00010
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738 0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) rs748950933 0.00010
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 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.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met) rs754362594 0.00009
NM_001205293.3(CACNA1E):c.6625G>A (p.Glu2209Lys) rs201030442 0.00009
NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln) rs749565023 0.00009
NM_001365999.1(SZT2):c.2014A>T (p.Thr672Ser) rs190973132 0.00009
NM_001365999.1(SZT2):c.2138G>T (p.Gly713Val) rs766656735 0.00009
NM_001365999.1(SZT2):c.2915C>T (p.Pro972Leu) rs139474741 0.00009
NM_001365999.1(SZT2):c.3251C>T (p.Pro1084Leu) rs373408367 0.00009
NM_001365999.1(SZT2):c.5142C>T (p.Ile1714=) rs756050426 0.00009
NM_001365999.1(SZT2):c.5380C>T (p.Pro1794Ser) rs375216274 0.00009
NM_001365999.1(SZT2):c.5528G>A (p.Gly1843Glu) rs183034572 0.00009
NM_001365999.1(SZT2):c.6628-3C>T rs375885010 0.00009
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln) rs374546223 0.00009
NM_001365999.1(SZT2):c.8295C>T (p.Asp2765=) rs181686875 0.00009
NM_001365999.1(SZT2):c.8725C>T (p.Leu2909=) rs111662559 0.00009
NM_001367561.1(DOCK7):c.2371C>A (p.Leu791Ile) rs146210506 0.00009
NM_001367561.1(DOCK7):c.4073G>A (p.Arg1358Gln) rs150781290 0.00009
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850 0.00009
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 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_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
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_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.3099G>T (p.Glu1033Asp) rs374682395 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_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser) rs1284163110 0.00008
NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg) rs148719824 0.00008
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met) rs547399351 0.00008
NM_001205293.3(CACNA1E):c.3327G>A (p.Glu1109=) rs376421930 0.00008
NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln) rs754653742 0.00008
NM_001365999.1(SZT2):c.1312C>T (p.Arg438Cys) rs373013502 0.00008
NM_001365999.1(SZT2):c.5183A>G (p.His1728Arg) rs751797305 0.00008
NM_001365999.1(SZT2):c.6351C>T (p.Leu2117=) rs370166503 0.00008
NM_001365999.1(SZT2):c.7069T>C (p.Leu2357=) rs771086530 0.00008
NM_001365999.1(SZT2):c.8044G>A (p.Val2682Met) rs749819665 0.00008
NM_001367561.1(DOCK7):c.2612G>A (p.Gly871Glu) rs142531051 0.00008
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306 0.00008
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299 0.00008
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448 0.00008
NM_020822.3(KCNT1):c.2730-15G>A rs539244041 0.00008
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00008
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=) rs371632359 0.00008
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150 0.00008
NM_020822.3(KCNT1):c.434+10G>A rs187872786 0.00008
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00008
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 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.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys) rs376475241 0.00007
NM_001365999.1(SZT2):c.2256-10C>T rs747740233 0.00007
NM_001365999.1(SZT2):c.3489G>A (p.Lys1163=) rs149793909 0.00007
NM_001365999.1(SZT2):c.5516G>A (p.Arg1839His) rs760427137 0.00007
NM_001365999.1(SZT2):c.5680C>T (p.Arg1894Trp) rs761963698 0.00007
NM_001365999.1(SZT2):c.9049A>G (p.Met3017Val) rs143624137 0.00007
NM_001365999.1(SZT2):c.9287-8T>C rs183871754 0.00007
NM_001367561.1(DOCK7):c.842T>A (p.Ile281Asn) rs202034067 0.00007
NM_020822.3(KCNT1):c.1036-12T>G rs113079797 0.00007
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992 0.00007
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266 0.00007
NM_020822.3(KCNT1):c.1769+8C>T rs371287985 0.00007
NM_020822.3(KCNT1):c.1770-15G>A rs746828967 0.00007
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys) rs370800291 0.00007
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.335-16G>A rs151217665 0.00007
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404 0.00007
NM_020822.3(KCNT1):c.435-12G>C rs367739886 0.00007
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509 0.00007
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys) rs568539413 0.00007
NM_020822.3(KCNT1):c.854+9C>T rs370686981 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
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_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001205293.3(CACNA1E):c.2421G>A (p.Pro807=) rs368794137 0.00006
NM_001205293.3(CACNA1E):c.2765G>A (p.Arg922Gln) rs199820931 0.00006
NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val) rs570189573 0.00006
NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr) rs756661624 0.00006
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His) rs372520364 0.00006
NM_001205293.3(CACNA1E):c.639C>T (p.Ser213=) rs375614479 0.00006
NM_001365999.1(SZT2):c.1191C>T (p.Ala397=) rs772072313 0.00006
NM_001365999.1(SZT2):c.2409G>A (p.Pro803=) rs180810470 0.00006
NM_001365999.1(SZT2):c.3306C>T (p.Ser1102=) rs370803181 0.00006
NM_001365999.1(SZT2):c.390C>T (p.Gly130=) rs187131803 0.00006
NM_001365999.1(SZT2):c.4189G>A (p.Glu1397Lys) rs781566610 0.00006
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr) rs147201727 0.00006
NM_001365999.1(SZT2):c.4814G>T (p.Gly1605Val) rs748780265 0.00006
NM_001365999.1(SZT2):c.5551C>T (p.Arg1851Trp) rs148100527 0.00006
NM_001365999.1(SZT2):c.5642C>T (p.Pro1881Leu) rs377454933 0.00006
NM_001365999.1(SZT2):c.6536G>A (p.Arg2179Gln) rs185955600 0.00006
NM_001365999.1(SZT2):c.6738C>T (p.Leu2246=) rs374441368 0.00006
NM_001365999.1(SZT2):c.7479G>A (p.Ala2493=) rs751309639 0.00006
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His) rs374896394 0.00006
NM_001365999.1(SZT2):c.7802G>A (p.Arg2601His) rs757425191 0.00006
NM_001365999.1(SZT2):c.7900C>G (p.Pro2634Ala) rs763289414 0.00006
NM_001365999.1(SZT2):c.8216C>T (p.Pro2739Leu) rs774032264 0.00006
NM_001365999.1(SZT2):c.83G>A (p.Arg28Gln) rs199859472 0.00006
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) rs201027552 0.00006
NM_001365999.1(SZT2):c.8817C>T (p.Pro2939=) rs777808688 0.00006
NM_001365999.1(SZT2):c.9938C>T (p.Ala3313Val) rs201695619 0.00006
NM_001367561.1(DOCK7):c.145G>A (p.Val49Met) rs374725632 0.00006
NM_001367561.1(DOCK7):c.2035C>T (p.Arg679Trp) rs759877282 0.00006
NM_001367561.1(DOCK7):c.2500G>A (p.Gly834Arg) rs147710829 0.00006
NM_001367561.1(DOCK7):c.4867A>G (p.Ile1623Val) rs200800312 0.00006
NM_001367561.1(DOCK7):c.6157A>G (p.Lys2053Glu) rs374052758 0.00006
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His) rs757667036 0.00006
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1200+15C>T rs138631641 0.00006
NM_020822.3(KCNT1):c.1326C>A (p.Leu442=) rs200910140 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) rs537431085 0.00006
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469 0.00006
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151 0.00006
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353 0.00006
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 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_001205293.3(CACNA1E):c.3270C>T (p.Asn1090=) rs768466014 0.00005
NM_001365999.1(SZT2):c.1742G>A (p.Arg581His) rs747998865 0.00005
NM_001365999.1(SZT2):c.1797G>A (p.Pro599=) rs748420169 0.00005
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln) rs149633993 0.00005
NM_001365999.1(SZT2):c.3823C>G (p.Pro1275Ala) rs200612162 0.00005
NM_001365999.1(SZT2):c.4082G>C (p.Gly1361Ala) rs368917857 0.00005
NM_001365999.1(SZT2):c.4246T>G (p.Ser1416Ala) rs760664038 0.00005
NM_001365999.1(SZT2):c.4280C>T (p.Ala1427Val) rs1489168291 0.00005
NM_001365999.1(SZT2):c.4414C>T (p.Arg1472Trp) rs775105626 0.00005
NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln) rs532357677 0.00005
NM_001365999.1(SZT2):c.5282G>A (p.Arg1761His) rs377397872 0.00005
NM_001365999.1(SZT2):c.6541C>T (p.Leu2181=) rs145034016 0.00005
NM_001365999.1(SZT2):c.7019C>T (p.Pro2340Leu) rs199939601 0.00005
NM_001367561.1(DOCK7):c.3250G>A (p.Val1084Ile) rs758986234 0.00005
NM_001367561.1(DOCK7):c.3646G>A (p.Val1216Ile) rs755704781 0.00005
NM_001367561.1(DOCK7):c.5098G>C (p.Glu1700Gln) rs780985900 0.00005
NM_020822.3(KCNT1):c.1402-5G>A rs573411729 0.00005
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 0.00005
NM_020822.3(KCNT1):c.2008+20C>T rs371649094 0.00005
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239 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_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
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_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597 0.00004
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701 0.00004
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=) rs369610414 0.00004
NM_001365999.1(SZT2):c.1027C>T (p.Arg343Trp) rs767336909 0.00004
NM_001365999.1(SZT2):c.1395C>T (p.Gly465=) rs373535733 0.00004
NM_001365999.1(SZT2):c.2095A>T (p.Ser699Cys) rs561464206 0.00004
NM_001365999.1(SZT2):c.245T>C (p.Val82Ala) rs1274088465 0.00004
NM_001365999.1(SZT2):c.2500G>A (p.Ala834Thr) rs753359197 0.00004
NM_001365999.1(SZT2):c.2528T>C (p.Met843Thr) rs747523743 0.00004
NM_001365999.1(SZT2):c.2569G>A (p.Ala857Thr) rs772010145 0.00004
NM_001365999.1(SZT2):c.2792C>T (p.Thr931Met) rs755130899 0.00004
NM_001365999.1(SZT2):c.3257A>G (p.Glu1086Gly) rs373741370 0.00004
NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala) rs137956992 0.00004
NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys) rs760099699 0.00004
NM_001365999.1(SZT2):c.3950G>A (p.Ser1317Asn) rs998845607 0.00004
NM_001365999.1(SZT2):c.4356C>T (p.Ser1452=) rs200813502 0.00004
NM_001365999.1(SZT2):c.4540C>T (p.Arg1514Trp) rs771790051 0.00004
NM_001365999.1(SZT2):c.4599C>T (p.Asp1533=) rs200228680 0.00004
NM_001365999.1(SZT2):c.4716C>T (p.Ser1572=) rs147043685 0.00004
NM_001365999.1(SZT2):c.4717G>A (p.Val1573Met) rs556736033 0.00004
NM_001365999.1(SZT2):c.4720C>T (p.Arg1574Trp) rs79351309 0.00004
NM_001365999.1(SZT2):c.5281C>T (p.Arg1761Cys) rs765040883 0.00004
NM_001365999.1(SZT2):c.5668C>T (p.Pro1890Ser) rs772875195 0.00004
NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln) rs201099906 0.00004
NM_001365999.1(SZT2):c.6059C>T (p.Ala2020Val) rs143602595 0.00004
NM_001365999.1(SZT2):c.6532G>A (p.Val2178Met) rs143685264 0.00004
NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp) rs930525688 0.00004
NM_001365999.1(SZT2):c.6812G>C (p.Gly2271Ala) rs367873208 0.00004
NM_001365999.1(SZT2):c.6936G>A (p.Ala2312=) rs192791002 0.00004
NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) rs201622088 0.00004
NM_001365999.1(SZT2):c.7253G>A (p.Gly2418Asp) rs370433500 0.00004
NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys) rs139028803 0.00004
NM_001365999.1(SZT2):c.7651C>T (p.Arg2551Trp) rs749179825 0.00004
NM_001365999.1(SZT2):c.7657C>T (p.Leu2553Phe) rs1028753286 0.00004
NM_001365999.1(SZT2):c.7743-4A>G rs368440874 0.00004
NM_001365999.1(SZT2):c.7864A>G (p.Thr2622Ala) rs761294812 0.00004
NM_001365999.1(SZT2):c.8201G>A (p.Arg2734Gln) rs370164213 0.00004
NM_001365999.1(SZT2):c.8258G>A (p.Gly2753Asp) rs752993966 0.00004
NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met) rs1174812322 0.00004
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) rs149672814 0.00004
NM_001365999.1(SZT2):c.835C>T (p.Leu279=) rs373897662 0.00004
NM_001365999.1(SZT2):c.8840G>A (p.Arg2947Gln) rs147484328 0.00004
NM_001365999.1(SZT2):c.8848G>A (p.Ala2950Thr) rs149514994 0.00004
NM_001365999.1(SZT2):c.8941T>A (p.Tyr2981Asn) rs201615506 0.00004
NM_001365999.1(SZT2):c.8947C>T (p.Leu2983=) rs752431707 0.00004
NM_001365999.1(SZT2):c.9360T>C (p.Ser3120=) rs367855839 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val) rs371736872 0.00004
NM_001365999.1(SZT2):c.9880C>T (p.Arg3294Trp) rs199787819 0.00004
NM_001367561.1(DOCK7):c.1111A>G (p.Thr371Ala) rs746086295 0.00004
NM_001367561.1(DOCK7):c.2630C>G (p.Ala877Gly) rs139050582 0.00004
NM_001367561.1(DOCK7):c.5693C>G (p.Pro1898Arg) rs747709595 0.00004
NM_001367561.1(DOCK7):c.6407G>A (p.Arg2136His) rs201452223 0.00004
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341 0.00004
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466 0.00004
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800 0.00004
NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) rs368876173 0.00004
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985 0.00004
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681 0.00004
NM_020822.3(KCNT1):c.2008+18C>T rs370292952 0.00004
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475 0.00004
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066 0.00004
NM_020822.3(KCNT1):c.2841+10C>T rs765179799 0.00004
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=) rs369519989 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279 0.00004
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121 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_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) rs764711084 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 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_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761 0.00003
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160 0.00003
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=) rs749768274 0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 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.6959+6C>T rs542848685 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001205293.3(CACNA1E):c.4102G>A (p.Val1368Ile) rs574530214 0.00003
NM_001205293.3(CACNA1E):c.5258G>A (p.Arg1753Gln) rs371470806 0.00003
NM_001205293.3(CACNA1E):c.5524A>G (p.Ile1842Val) rs761790010 0.00003
NM_001205293.3(CACNA1E):c.5787-17T>C rs747757024 0.00003
NM_001205293.3(CACNA1E):c.6864C>T (p.Arg2288=) rs768838447 0.00003
NM_001365999.1(SZT2):c.10239C>T (p.Tyr3413=) rs757144339 0.00003
NM_001365999.1(SZT2):c.1107A>G (p.Leu369=) rs533632273 0.00003
NM_001365999.1(SZT2):c.1373G>A (p.Arg458Gln) rs547358307 0.00003
NM_001365999.1(SZT2):c.1396G>A (p.Gly466Ser) rs749086217 0.00003
NM_001365999.1(SZT2):c.1584C>T (p.Ser528=) rs373399099 0.00003
NM_001365999.1(SZT2):c.2074C>T (p.Arg692Cys) rs1249245614 0.00003
NM_001365999.1(SZT2):c.2169A>T (p.Ser723=) rs1327247768 0.00003
NM_001365999.1(SZT2):c.2824C>T (p.Arg942Trp) rs773789668 0.00003
NM_001365999.1(SZT2):c.2875C>T (p.Leu959=) rs1570647334 0.00003
NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) rs201767217 0.00003
NM_001365999.1(SZT2):c.3657C>T (p.Tyr1219=) rs111604978 0.00003
NM_001365999.1(SZT2):c.3690G>A (p.Ala1230=) rs1041324146 0.00003
NM_001365999.1(SZT2):c.3755A>C (p.Gln1252Pro) rs750743832 0.00003
NM_001365999.1(SZT2):c.4113C>G (p.Ser1371Arg) rs1001442150 0.00003
NM_001365999.1(SZT2):c.4166+4A>G rs184298720 0.00003
NM_001365999.1(SZT2):c.4225C>T (p.Pro1409Ser) rs377512674 0.00003
NM_001365999.1(SZT2):c.429C>T (p.Ile143=) rs1209373381 0.00003
NM_001365999.1(SZT2):c.4419C>T (p.Asp1473=) rs377200944 0.00003
NM_001365999.1(SZT2):c.4710G>A (p.Thr1570=) rs375889333 0.00003
NM_001365999.1(SZT2):c.4805C>G (p.Pro1602Arg) rs568068900 0.00003
NM_001365999.1(SZT2):c.5052G>A (p.Thr1684=) rs776237704 0.00003
NM_001365999.1(SZT2):c.5114T>C (p.Met1705Thr) rs898358728 0.00003
NM_001365999.1(SZT2):c.5330G>A (p.Gly1777Asp) rs370796220 0.00003
NM_001365999.1(SZT2):c.5426A>T (p.Glu1809Val) rs368450227 0.00003
NM_001365999.1(SZT2):c.5816G>A (p.Arg1939Gln) rs779576338 0.00003
NM_001365999.1(SZT2):c.5825G>A (p.Gly1942Glu) rs749617609 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001365999.1(SZT2):c.5876T>C (p.Val1959Ala) rs141053867 0.00003
NM_001365999.1(SZT2):c.6060G>A (p.Ala2020=) rs141635115 0.00003
NM_001365999.1(SZT2):c.6065G>A (p.Arg2022His) rs751985872 0.00003
NM_001365999.1(SZT2):c.7193C>G (p.Thr2398Arg) rs761399327 0.00003
NM_001365999.1(SZT2):c.7317G>A (p.Ala2439=) rs372293082 0.00003
NM_001365999.1(SZT2):c.7322G>A (p.Arg2441Gln) rs200753719 0.00003
NM_001365999.1(SZT2):c.7478C>T (p.Ala2493Val) rs779826702 0.00003
NM_001365999.1(SZT2):c.74G>A (p.Arg25Gln) rs760528024 0.00003
NM_001365999.1(SZT2):c.7687G>A (p.Ala2563Thr) rs201491437 0.00003
NM_001365999.1(SZT2):c.7816C>T (p.Arg2606Trp) rs754730352 0.00003
NM_001365999.1(SZT2):c.7873+5G>A rs374303767 0.00003
NM_001365999.1(SZT2):c.8006A>G (p.Asp2669Gly) rs201418010 0.00003
NM_001365999.1(SZT2):c.8428C>T (p.Arg2810Cys) rs769123289 0.00003
NM_001365999.1(SZT2):c.8930C>T (p.Pro2977Leu) rs761830930 0.00003
NM_001365999.1(SZT2):c.952A>G (p.Met318Val) rs972539312 0.00003
NM_001365999.1(SZT2):c.9632G>A (p.Arg3211His) rs374492072 0.00003
NM_001365999.1(SZT2):c.9781C>T (p.Arg3261Trp) rs757417546 0.00003
NM_001365999.1(SZT2):c.992C>T (p.Pro331Leu) rs368059626 0.00003
NM_001367561.1(DOCK7):c.2250C>T (p.His750=) rs201252647 0.00003
NM_001367561.1(DOCK7):c.3152C>T (p.Thr1051Met) rs757960377 0.00003
NM_001367561.1(DOCK7):c.3211A>G (p.Asn1071Asp) rs371894094 0.00003
NM_001367561.1(DOCK7):c.5102G>A (p.Arg1701Gln) rs191312236 0.00003
NM_001367561.1(DOCK7):c.72C>T (p.Ser24=) rs369563931 0.00003
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792 0.00003
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285 0.00003
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376 0.00003
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872 0.00003
NM_020822.3(KCNT1):c.2841+18G>A rs763792397 0.00003
NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=) rs576099213 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 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_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=) rs777441722 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 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.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 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_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001205293.3(CACNA1E):c.246C>G (p.Ala82=) rs945252835 0.00002
NM_001205293.3(CACNA1E):c.3696C>T (p.Gly1232=) rs755064825 0.00002
NM_001205293.3(CACNA1E):c.6228C>T (p.His2076=) rs376436823 0.00002
NM_001205293.3(CACNA1E):c.6516C>T (p.Tyr2172=) rs756099099 0.00002
NM_001205293.3(CACNA1E):c.6611A>G (p.Asn2204Ser) rs923912118 0.00002
NM_001365999.1(SZT2):c.1000G>T (p.Gly334Cys) rs918688605 0.00002
NM_001365999.1(SZT2):c.10288C>T (p.Arg3430Cys) rs750291489 0.00002
NM_001365999.1(SZT2):c.1055G>A (p.Arg352His) rs371878968 0.00002
NM_001365999.1(SZT2):c.1102C>T (p.Arg368Cys) rs753741740 0.00002
NM_001365999.1(SZT2):c.1994G>A (p.Arg665His) rs754481570 0.00002
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055 0.00002
NM_001365999.1(SZT2):c.2545A>G (p.Ile849Val) rs749314293 0.00002
NM_001365999.1(SZT2):c.2579A>C (p.Glu860Ala) rs1375272994 0.00002
NM_001365999.1(SZT2):c.2775G>A (p.Lys925=) rs1055395161 0.00002
NM_001365999.1(SZT2):c.3230T>C (p.Leu1077Pro) rs200084982 0.00002
NM_001365999.1(SZT2):c.3243T>C (p.His1081=) rs200981894 0.00002
NM_001365999.1(SZT2):c.3743C>T (p.Ala1248Val) rs752303066 0.00002
NM_001365999.1(SZT2):c.379C>T (p.Arg127Cys) rs150074610 0.00002
NM_001365999.1(SZT2):c.3809A>G (p.Gln1270Arg) rs771793753 0.00002
NM_001365999.1(SZT2):c.3810G>A (p.Gln1270=) rs1323463488 0.00002
NM_001365999.1(SZT2):c.3851C>T (p.Pro1284Leu) rs1228879995 0.00002
NM_001365999.1(SZT2):c.3978G>A (p.Ala1326=) rs768548993 0.00002
NM_001365999.1(SZT2):c.4080T>C (p.Pro1360=) rs775980814 0.00002
NM_001365999.1(SZT2):c.4309-3C>T rs376401769 0.00002
NM_001365999.1(SZT2):c.4921A>G (p.Thr1641Ala) rs528738374 0.00002
NM_001365999.1(SZT2):c.4993G>A (p.Gly1665Arg) rs892465059 0.00002
NM_001365999.1(SZT2):c.5284C>T (p.Arg1762Cys) rs141456660 0.00002
NM_001365999.1(SZT2):c.5391G>A (p.Ala1797=) rs752230870 0.00002
NM_001365999.1(SZT2):c.559T>C (p.Tyr187His) rs970588679 0.00002
NM_001365999.1(SZT2):c.5764C>T (p.Arg1922Trp) rs765644938 0.00002
NM_001365999.1(SZT2):c.5803C>T (p.Arg1935Trp) rs745371792 0.00002
NM_001365999.1(SZT2):c.5832G>A (p.Pro1944=) rs759851058 0.00002
NM_001365999.1(SZT2):c.6420G>A (p.Met2140Ile) rs747463004 0.00002
NM_001365999.1(SZT2):c.6500G>A (p.Gly2167Glu) rs146540759 0.00002
NM_001365999.1(SZT2):c.6666G>C (p.Leu2222=) rs142775911 0.00002
NM_001365999.1(SZT2):c.7013G>A (p.Arg2338His) rs777078813 0.00002
NM_001365999.1(SZT2):c.7230G>A (p.Ser2410=) rs754459485 0.00002
NM_001365999.1(SZT2):c.7264A>G (p.Thr2422Ala) rs748133903 0.00002
NM_001365999.1(SZT2):c.7267T>C (p.Phe2423Leu) rs755853594 0.00002
NM_001365999.1(SZT2):c.7817G>A (p.Arg2606Gln) rs780973584 0.00002
NM_001365999.1(SZT2):c.7957G>C (p.Glu2653Gln) rs757185806 0.00002
NM_001365999.1(SZT2):c.8104C>T (p.Leu2702Phe) rs768665895 0.00002
NM_001365999.1(SZT2):c.8213C>T (p.Pro2738Leu) rs1401968790 0.00002
NM_001365999.1(SZT2):c.8459C>T (p.Thr2820Ile) rs776178283 0.00002
NM_001365999.1(SZT2):c.8500-6C>A rs376269256 0.00002
NM_001365999.1(SZT2):c.8630G>A (p.Arg2877His) rs923505488 0.00002
NM_001365999.1(SZT2):c.8818G>A (p.Ala2940Thr) rs199778444 0.00002
NM_001365999.1(SZT2):c.8822G>A (p.Arg2941His) rs202113628 0.00002
NM_001365999.1(SZT2):c.9185A>G (p.His3062Arg) rs745917157 0.00002
NM_001365999.1(SZT2):c.9227G>A (p.Arg3076Gln) rs201132575 0.00002
NM_001365999.1(SZT2):c.9638G>A (p.Arg3213Gln) rs763529490 0.00002
NM_001365999.1(SZT2):c.9727G>A (p.Gly3243Arg) rs770750697 0.00002
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg) rs758380489 0.00002
NM_001367561.1(DOCK7):c.2188A>G (p.Ile730Val) rs747262593 0.00002
NM_001367561.1(DOCK7):c.3680C>T (p.Pro1227Leu) rs369056481 0.00002
NM_001367561.1(DOCK7):c.3746T>C (p.Ile1249Thr) rs745532701 0.00002
NM_001367561.1(DOCK7):c.38+6T>C rs1029588198 0.00002
NM_001367561.1(DOCK7):c.3844G>A (p.Gly1282Arg) rs759878677 0.00002
NM_001367561.1(DOCK7):c.4490C>T (p.Thr1497Met) rs200226943 0.00002
NM_001367561.1(DOCK7):c.800T>C (p.Val267Ala) rs749548343 0.00002
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 0.00002
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607 0.00002
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) rs376892911 0.00002
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=) rs1208098376 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val) rs536588045 0.00002
NM_020822.3(KCNT1):c.2008+9G>T rs375088109 0.00002
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485 0.00002
NM_020822.3(KCNT1):c.2349+20C>T rs375666062 0.00002
NM_020822.3(KCNT1):c.2350-13C>T rs374333732 0.00002
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279 0.00002
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=) rs776550763 0.00002
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His) rs776239808 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103 0.00002
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071 0.00002
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=) rs781111074 0.00002
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_020822.3(KCNT1):c.762T>C (p.Asn254=) rs1481356544 0.00002
NM_020822.3(KCNT1):c.879G>A (p.Glu293=) rs557092185 0.00002
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=) rs747685419 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_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
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_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=) rs570171059 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 0.00001
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser) rs773328719 0.00001
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631 0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter) rs1484841139 0.00001
NM_001205293.3(CACNA1E):c.1256G>A (p.Arg419Gln) rs866035995 0.00001
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu) rs377297262 0.00001
NM_001205293.3(CACNA1E):c.1843G>A (p.Val615Ile) rs746915512 0.00001
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu) rs1219232478 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001205293.3(CACNA1E):c.2755C>T (p.Arg919Trp) rs769941881 0.00001
NM_001205293.3(CACNA1E):c.3214G>A (p.Val1072Ile) rs553844010 0.00001
NM_001205293.3(CACNA1E):c.3253G>A (p.Val1085Met) rs768308084 0.00001
NM_001205293.3(CACNA1E):c.3838G>A (p.Asp1280Asn) rs1169304498 0.00001
NM_001205293.3(CACNA1E):c.4433C>T (p.Pro1478Leu) rs760888096 0.00001
NM_001205293.3(CACNA1E):c.6296G>A (p.Arg2099His) rs1558404790 0.00001
NM_001205293.3(CACNA1E):c.6865G>A (p.Gly2289Arg) rs750533768 0.00001
NM_001365999.1(SZT2):c.10030C>T (p.Arg3344Cys) rs751947230 0.00001
NM_001365999.1(SZT2):c.1007T>G (p.Leu336Arg) rs766418139 0.00001
NM_001365999.1(SZT2):c.10155+5G>C rs755843150 0.00001
NM_001365999.1(SZT2):c.1039C>T (p.Leu347Phe) rs377503040 0.00001
NM_001365999.1(SZT2):c.1261+4A>G rs1300743804 0.00001
NM_001365999.1(SZT2):c.1302A>G (p.Lys434=) rs1420992888 0.00001
NM_001365999.1(SZT2):c.1765G>T (p.Asp589Tyr) rs1169459726 0.00001
NM_001365999.1(SZT2):c.17C>G (p.Pro6Arg) rs759762015 0.00001
NM_001365999.1(SZT2):c.2206C>T (p.Arg736Trp) rs890611597 0.00001
NM_001365999.1(SZT2):c.2220G>A (p.Val740=) rs576623885 0.00001
NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) rs754599484 0.00001
NM_001365999.1(SZT2):c.2427G>A (p.Ala809=) rs761742264 0.00001
NM_001365999.1(SZT2):c.2468C>T (p.Thr823Ile) rs766349361 0.00001
NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln) rs752495437 0.00001
NM_001365999.1(SZT2):c.2533C>G (p.Leu845Val) rs181729793 0.00001
NM_001365999.1(SZT2):c.253A>T (p.Thr85Ser) rs763499985 0.00001
NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) rs768015377 0.00001
NM_001365999.1(SZT2):c.2646-3T>C rs779987144 0.00001
NM_001365999.1(SZT2):c.2759G>A (p.Gly920Asp) rs764539994 0.00001
NM_001365999.1(SZT2):c.2825G>A (p.Arg942Gln) rs766765965 0.00001
NM_001365999.1(SZT2):c.284G>A (p.Arg95Gln) rs975533309 0.00001
NM_001365999.1(SZT2):c.2950A>G (p.Thr984Ala) rs1057524780 0.00001
NM_001365999.1(SZT2):c.3235G>T (p.Gly1079Trp) rs376134899 0.00001
NM_001365999.1(SZT2):c.3550A>C (p.Lys1184Gln) rs778560456 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.3700C>T (p.Arg1234Trp) rs776754646 0.00001
NM_001365999.1(SZT2):c.3802C>T (p.Arg1268Trp) rs1031667752 0.00001
NM_001365999.1(SZT2):c.3854G>A (p.Arg1285Gln) rs370863026 0.00001
NM_001365999.1(SZT2):c.3905G>A (p.Arg1302Gln) rs761404509 0.00001
NM_001365999.1(SZT2):c.4262G>T (p.Cys1421Phe) rs1203698640 0.00001
NM_001365999.1(SZT2):c.4434A>T (p.Lys1478Asn) rs1653716206 0.00001
NM_001365999.1(SZT2):c.4438A>G (p.Ser1480Gly) rs142245402 0.00001
NM_001365999.1(SZT2):c.4691C>T (p.Pro1564Leu) rs1329340929 0.00001
NM_001365999.1(SZT2):c.479T>C (p.Ile160Thr) rs776845092 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.5092C>T (p.Arg1698Cys) rs765555116 0.00001
NM_001365999.1(SZT2):c.527C>G (p.Pro176Arg) rs758767291 0.00001
NM_001365999.1(SZT2):c.5285G>A (p.Arg1762His) rs779573906 0.00001
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=) rs797046032 0.00001
NM_001365999.1(SZT2):c.5552G>A (p.Arg1851Gln) rs778064948 0.00001
NM_001365999.1(SZT2):c.5720C>T (p.Ser1907Leu) rs773776840 0.00001
NM_001365999.1(SZT2):c.5804G>A (p.Arg1935Gln) rs771676834 0.00001
NM_001365999.1(SZT2):c.5831C>T (p.Pro1944Leu) rs754585816 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.6084A>C (p.Thr2028=) rs1366420391 0.00001
NM_001365999.1(SZT2):c.616G>A (p.Asp206Asn) rs764100978 0.00001
NM_001365999.1(SZT2):c.629A>G (p.Gln210Arg) rs1557531808 0.00001
NM_001365999.1(SZT2):c.6316C>T (p.Arg2106Trp) rs769396036 0.00001
NM_001365999.1(SZT2):c.6322T>C (p.Trp2108Arg) rs1374531104 0.00001
NM_001365999.1(SZT2):c.6574G>A (p.Val2192Ile) rs373419730 0.00001
NM_001365999.1(SZT2):c.6592G>C (p.Val2198Leu) rs746050802 0.00001
NM_001365999.1(SZT2):c.671G>A (p.Arg224Gln) rs541591330 0.00001
NM_001365999.1(SZT2):c.6816C>T (p.Gly2272=) rs150870098 0.00001
NM_001365999.1(SZT2):c.6877+5G>A rs780792275 0.00001
NM_001365999.1(SZT2):c.6916G>C (p.Gly2306Arg) rs200675254 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.7033A>G (p.Ser2345Gly) rs182184747 0.00001
NM_001365999.1(SZT2):c.7036T>C (p.Ser2346Pro) rs749374596 0.00001
NM_001365999.1(SZT2):c.7185A>G (p.Ser2395=) rs1654894278 0.00001
NM_001365999.1(SZT2):c.7238C>G (p.Thr2413Ser) rs762235124 0.00001
NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val) rs755029775 0.00001
NM_001365999.1(SZT2):c.7373C>G (p.Ser2458Cys) rs371109647 0.00001
NM_001365999.1(SZT2):c.7389T>C (p.Asp2463=) rs778123763 0.00001
NM_001365999.1(SZT2):c.7681T>C (p.Phe2561Leu) rs148506515 0.00001
NM_001365999.1(SZT2):c.7718G>C (p.Ser2573Thr) rs755325371 0.00001
NM_001365999.1(SZT2):c.7759A>C (p.Ile2587Leu) rs567627025 0.00001
NM_001365999.1(SZT2):c.7785A>G (p.Gln2595=) rs139803823 0.00001
NM_001365999.1(SZT2):c.780C>T (p.Ile260=) rs375794037 0.00001
NM_001365999.1(SZT2):c.7896C>T (p.Phe2632=) rs773642457 0.00001
NM_001365999.1(SZT2):c.8013G>A (p.Gly2671=) rs765145256 0.00001
NM_001365999.1(SZT2):c.8125T>C (p.Leu2709=) rs761871479 0.00001
NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met) rs773129616 0.00001
NM_001365999.1(SZT2):c.8141G>A (p.Arg2714Gln) rs192016258 0.00001
NM_001365999.1(SZT2):c.8151+11C>T rs78750047 0.00001
NM_001365999.1(SZT2):c.8197A>G (p.Ile2733Val) rs748208436 0.00001
NM_001365999.1(SZT2):c.8225G>A (p.Arg2742His) rs763615703 0.00001
NM_001365999.1(SZT2):c.8254C>T (p.Arg2752Cys) rs1010639779 0.00001
NM_001365999.1(SZT2):c.8280C>T (p.Asp2760=) rs1186640842 0.00001
NM_001365999.1(SZT2):c.8413C>T (p.Arg2805Cys) rs768283714 0.00001
NM_001365999.1(SZT2):c.8430C>T (p.Arg2810=) rs377123278 0.00001
NM_001365999.1(SZT2):c.8471G>A (p.Arg2824His) rs769083980 0.00001
NM_001365999.1(SZT2):c.8479C>T (p.Pro2827Ser) rs762098815 0.00001
NM_001365999.1(SZT2):c.8606C>T (p.Ser2869Phe) rs372395617 0.00001
NM_001365999.1(SZT2):c.8635C>T (p.Arg2879Cys) rs769509671 0.00001
NM_001365999.1(SZT2):c.8669C>T (p.Pro2890Leu) rs757574042 0.00001
NM_001365999.1(SZT2):c.8703G>A (p.Pro2901=) rs1328299251 0.00001
NM_001365999.1(SZT2):c.8797C>G (p.Pro2933Ala) rs758835465 0.00001
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629 0.00001
NM_001365999.1(SZT2):c.898T>C (p.Tyr300His) rs754738706 0.00001
NM_001365999.1(SZT2):c.900T>C (p.Tyr300=) rs748111311 0.00001
NM_001365999.1(SZT2):c.9110G>A (p.Arg3037Gln) rs199743574 0.00001
NM_001365999.1(SZT2):c.9160G>A (p.Val3054Met) rs565123375 0.00001
NM_001365999.1(SZT2):c.9196C>T (p.Arg3066Trp) rs768514895 0.00001
NM_001365999.1(SZT2):c.9253G>A (p.Gly3085Arg) rs764648221 0.00001
NM_001365999.1(SZT2):c.9302C>T (p.Pro3101Leu) rs1361316609 0.00001
NM_001365999.1(SZT2):c.9330A>G (p.Leu3110=) rs749144612 0.00001
NM_001365999.1(SZT2):c.9473G>A (p.Arg3158Gln) rs200187525 0.00001
NM_001365999.1(SZT2):c.9486C>T (p.Asp3162=) rs749826900 0.00001
NM_001365999.1(SZT2):c.9573C>G (p.Phe3191Leu) rs752229528 0.00001
NM_001365999.1(SZT2):c.9731C>T (p.Pro3244Leu) rs774448705 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001365999.1(SZT2):c.9800G>A (p.Arg3267Gln) rs558634467 0.00001
NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter) rs1302034044 0.00001
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys) rs764177776 0.00001
NM_001365999.1(SZT2):c.9947T>C (p.Ile3316Thr) rs375728143 0.00001
NM_001367561.1(DOCK7):c.1182T>C (p.Tyr394=) rs768933704 0.00001
NM_001367561.1(DOCK7):c.1277C>T (p.Thr426Ile) rs757984937 0.00001
NM_001367561.1(DOCK7):c.1293G>T (p.Gly431=) rs777222905 0.00001
NM_001367561.1(DOCK7):c.1531A>G (p.Ile511Val) rs764347103 0.00001
NM_001367561.1(DOCK7):c.1800G>A (p.Pro600=) rs201404610 0.00001
NM_001367561.1(DOCK7):c.1884T>G (p.Phe628Leu) rs1188863501 0.00001
NM_001367561.1(DOCK7):c.2203C>G (p.Pro735Ala) rs773479192 0.00001
NM_001367561.1(DOCK7):c.2279G>A (p.Arg760Gln) rs775510896 0.00001
NM_001367561.1(DOCK7):c.230G>A (p.Arg77Gln) rs376620846 0.00001
NM_001367561.1(DOCK7):c.2360G>A (p.Arg787Gln) rs748112814 0.00001
NM_001367561.1(DOCK7):c.258T>C (p.Asp86=) rs767000347 0.00001
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln) rs570514826 0.00001
NM_001367561.1(DOCK7):c.3098G>A (p.Arg1033Lys) rs1413099334 0.00001
NM_001367561.1(DOCK7):c.3246G>T (p.Leu1082Phe) rs758712631 0.00001
NM_001367561.1(DOCK7):c.3503A>G (p.Gln1168Arg) rs201976376 0.00001
NM_001367561.1(DOCK7):c.3508A>G (p.Ile1170Val) rs770962486 0.00001
NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys) rs202054691 0.00001
NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr) rs765024443 0.00001
NM_001367561.1(DOCK7):c.3761C>T (p.Pro1254Leu) rs1427395524 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367561.1(DOCK7):c.5359A>G (p.Met1787Val) rs775189099 0.00001
NM_001367561.1(DOCK7):c.535C>T (p.Arg179Cys) rs767517486 0.00001
NM_001367561.1(DOCK7):c.5479A>G (p.Lys1827Glu) rs781240642 0.00001
NM_001367561.1(DOCK7):c.569G>A (p.Ser190Asn) rs747518912 0.00001
NM_001367561.1(DOCK7):c.5796C>T (p.Phe1932=) rs771762947 0.00001
NM_001367561.1(DOCK7):c.5810A>G (p.Asn1937Ser) rs764578433 0.00001
NM_001367561.1(DOCK7):c.5906C>T (p.Thr1969Met) rs1645952347 0.00001
NM_001367561.1(DOCK7):c.6112T>G (p.Leu2038Val) rs749566422 0.00001
NM_001367561.1(DOCK7):c.613G>A (p.Ala205Thr) rs748514116 0.00001
NM_001367561.1(DOCK7):c.691C>G (p.Arg231Gly) rs1254316274 0.00001
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381 0.00001
NM_020822.3(KCNT1):c.1337+17G>A rs780243563 0.00001
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501 0.00001
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 0.00001
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154 0.00001
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573 0.00001
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270 0.00001
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=) rs368777569 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009 0.00001
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689 0.00001
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 0.00001
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=) rs559452456 0.00001
NM_020822.3(KCNT1):c.2523-13G>A rs770824523 0.00001
NM_020822.3(KCNT1):c.2589G>A (p.Val863=) rs558135119 0.00001
NM_020822.3(KCNT1):c.2595-15C>T rs1190489711 0.00001
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=) rs369904278 0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) rs1249219901 0.00001
NM_020822.3(KCNT1):c.2729+15C>T rs200624821 0.00001
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220 0.00001
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012 0.00001
NM_020822.3(KCNT1):c.3027+19G>A rs778490327 0.00001
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066 0.00001
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746 0.00001
NM_020822.3(KCNT1):c.3177+16G>A rs749539780 0.00001
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=) rs747248633 0.00001
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383 0.00001
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His) rs1055618053 0.00001
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873 0.00001
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367 0.00001
NM_020822.3(KCNT1):c.3503-15C>T rs373596158 0.00001
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val) rs1834554393 0.00001
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396 0.00001
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758 0.00001
NM_020822.3(KCNT1):c.3618C>T (p.His1206=) rs577378740 0.00001
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020822.3(KCNT1):c.434+19C>T rs772750955 0.00001
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802 0.00001
NM_020822.3(KCNT1):c.861C>T (p.Cys287=) rs750884338 0.00001
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191 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_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) rs1555542943 0.00001
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00001
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) rs146116408 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
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_001037333.3(CYFIP2):c.283dup (p.Gln95fs) rs5872508
NM_001042646.3(TRAK1):c.*42CTC[1] rs3836498
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
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.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
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.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3156-4G>A rs549061995
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly) rs772780483
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
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.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.6763-6C>A rs543227930
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
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.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala)
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro)
NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe) rs766926616
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln) rs535592986
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2294A>G (p.His765Arg) rs2102541491
NM_001205293.3(CACNA1E):c.2317CAC[1] (p.His774del)
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.3015C>G (p.Pro1005=) rs373175706
NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln) rs377580656
NM_001205293.3(CACNA1E):c.3097G>A (p.Ala1033Thr)
NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)
NM_001205293.3(CACNA1E):c.3505G>A (p.Ala1169Thr)
NM_001205293.3(CACNA1E):c.3512C>T (p.Ala1171Val) rs968528269
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys) rs759093976
NM_001205293.3(CACNA1E):c.364C>T (p.Arg122Ter) rs2102618557
NM_001205293.3(CACNA1E):c.3719+1G>A
NM_001205293.3(CACNA1E):c.4101C>T (p.Thr1367=) rs147656925
NM_001205293.3(CACNA1E):c.4184A>G (p.Asn1395Ser) rs2102689310
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=) rs2102718155
NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu)
NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser)
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.549C>T (p.His183=) rs750697056
NM_001205293.3(CACNA1E):c.5795G>A (p.Arg1932Gln)
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=) rs35611740
NM_001205293.3(CACNA1E):c.5990G>T (p.Arg1997Met) rs544113218
NM_001205293.3(CACNA1E):c.6230G>A (p.Arg2077His) rs759720068
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln) rs758936777
NM_001205293.3(CACNA1E):c.6272A>G (p.His2091Arg) rs1553361072
NM_001205293.3(CACNA1E):c.6341C>T (p.Pro2114Leu) rs759886074
NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)
NM_001205293.3(CACNA1E):c.6574G>C (p.Gly2192Arg) rs2102911119
NM_001205293.3(CACNA1E):c.6922G>C (p.Glu2308Gln)
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001365999.1(SZT2):c.10002C>T (p.Tyr3334=)
NM_001365999.1(SZT2):c.10216C>A (p.Pro3406Thr)
NM_001365999.1(SZT2):c.10262A>G (p.Asn3421Ser) rs1458905925
NM_001365999.1(SZT2):c.1057A>G (p.Ser353Gly)
NM_001365999.1(SZT2):c.1091-1G>A rs1652173183
NM_001365999.1(SZT2):c.1103G>A (p.Arg368His) rs757178219
NM_001365999.1(SZT2):c.1213G>C (p.Val405Leu) rs758088517
NM_001365999.1(SZT2):c.1240C>G (p.Arg414Gly)
NM_001365999.1(SZT2):c.1241G>T (p.Arg414Leu) rs757989403
NM_001365999.1(SZT2):c.1475G>A (p.Arg492His) rs755403943
NM_001365999.1(SZT2):c.1488G>T (p.Thr496=) rs370045267
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001365999.1(SZT2):c.154-37G>C rs710249
NM_001365999.1(SZT2):c.1770-11C>T rs756655876
NM_001365999.1(SZT2):c.2192A>C (p.Gln731Pro) rs1400348138
NM_001365999.1(SZT2):c.2208G>T (p.Arg736=) rs904037938
NM_001365999.1(SZT2):c.2356C>T (p.Leu786=) rs878855007
NM_001365999.1(SZT2):c.2412A>C (p.Ser804=) rs2153932904
NM_001365999.1(SZT2):c.2471+8A>T rs754795755
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2550+5G>T rs41270349
NM_001365999.1(SZT2):c.2585A>G (p.Lys862Arg) rs530645704
NM_001365999.1(SZT2):c.2747G>A (p.Arg916Gln) rs572909512
NM_001365999.1(SZT2):c.2786A>G (p.Asp929Gly) rs1206709674
NM_001365999.1(SZT2):c.2807C>G (p.Pro936Arg) rs756184903
NM_001365999.1(SZT2):c.2916G>T (p.Pro972=) rs758017419
NM_001365999.1(SZT2):c.3019A>T (p.Met1007Leu) rs2153933173
NM_001365999.1(SZT2):c.3345C>T (p.Ile1115=) rs775988619
NM_001365999.1(SZT2):c.3374A>G (p.Tyr1125Cys) rs372604291
NM_001365999.1(SZT2):c.3530A>G (p.Asp1177Gly) rs1653287379
NM_001365999.1(SZT2):c.3581G>A (p.Ser1194Asn) rs774726886
NM_001365999.1(SZT2):c.3689C>T (p.Ala1230Val) rs553638915
NM_001365999.1(SZT2):c.3755A>G (p.Gln1252Arg)
NM_001365999.1(SZT2):c.400C>T (p.Arg134Trp) rs1409830966
NM_001365999.1(SZT2):c.4021C>G (p.Pro1341Ala)
NM_001365999.1(SZT2):c.4324A>C (p.Ile1442Leu)
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter) rs766090540
NM_001365999.1(SZT2):c.4525C>T (p.Leu1509=) rs1557566670
NM_001365999.1(SZT2):c.4571C>A (p.Ala1524Asp)
NM_001365999.1(SZT2):c.4607C>G (p.Thr1536Ser)
NM_001365999.1(SZT2):c.4642G>T (p.Gly1548Trp) rs201357769
NM_001365999.1(SZT2):c.475A>T (p.Ile159Phe)
NM_001365999.1(SZT2):c.4834C>T (p.Leu1612Phe)
NM_001365999.1(SZT2):c.4844C>T (p.Thr1615Ile)
NM_001365999.1(SZT2):c.4915C>A (p.Arg1639=) rs753322092
NM_001365999.1(SZT2):c.4995G>T (p.Gly1665=) rs1653847013
NM_001365999.1(SZT2):c.5009C>G (p.Pro1670Arg) rs768416733
NM_001365999.1(SZT2):c.5075C>A (p.Thr1692Asn) rs149831634
NM_001365999.1(SZT2):c.5088+2T>C rs552956642
NM_001365999.1(SZT2):c.5197C>T (p.Arg1733Cys) rs752755119
NM_001365999.1(SZT2):c.5331CTT[2] (p.Phe1780del) rs759444473
NM_001365999.1(SZT2):c.5379G>A (p.Glu1793=) rs765099450
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.5651C>T (p.Thr1884Ile) rs1570679912
NM_001365999.1(SZT2):c.5666C>G (p.Ala1889Gly) rs772792017
NM_001365999.1(SZT2):c.5701C>T (p.Pro1901Ser) rs2153934290
NM_001365999.1(SZT2):c.5766G>C (p.Arg1922=) rs760518748
NM_001365999.1(SZT2):c.5779C>T (p.Arg1927Cys) rs370833658
NM_001365999.1(SZT2):c.5812A>G (p.Ile1938Val)
NM_001365999.1(SZT2):c.5815C>T (p.Arg1939Trp) rs1391888607
NM_001365999.1(SZT2):c.5905-13C>G rs200996082
NM_001365999.1(SZT2):c.6039T>C (p.Tyr2013=) rs1192938717
NM_001365999.1(SZT2):c.603G>A (p.Leu201=) rs1557531678
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001365999.1(SZT2):c.6283T>G (p.Tyr2095Asp) rs1178606747
NM_001365999.1(SZT2):c.6284A>G (p.Tyr2095Cys) rs947784174
NM_001365999.1(SZT2):c.6289C>T (p.Arg2097Trp) rs1557582244
NM_001365999.1(SZT2):c.6290+6T>G rs1570696130
NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu) rs766552506
NM_001365999.1(SZT2):c.6410C>T (p.Pro2137Leu)
NM_001365999.1(SZT2):c.6508+16G>T rs2782648
NM_001365999.1(SZT2):c.6646A>C (p.Ser2216Arg) rs1344772091
NM_001365999.1(SZT2):c.670C>G (p.Arg224Gly) rs930525688
NM_001365999.1(SZT2):c.6737T>C (p.Leu2246Pro) rs1654766541
NM_001365999.1(SZT2):c.675G>A (p.Lys225=) rs564963914
NM_001365999.1(SZT2):c.7037C>G (p.Ser2346Cys) rs771174830
NM_001365999.1(SZT2):c.7067G>T (p.Arg2356Leu) rs749570750
NM_001365999.1(SZT2):c.7087G>A (p.Gly2363Arg) rs1557587748
NM_001365999.1(SZT2):c.7136G>A (p.Arg2379His) rs1204610877
NM_001365999.1(SZT2):c.720G>A (p.Met240Ile) rs1651682058
NM_001365999.1(SZT2):c.7213A>G (p.Ser2405Gly)
NM_001365999.1(SZT2):c.7230G>T (p.Ser2410=) rs754459485
NM_001365999.1(SZT2):c.7395T>G (p.Ile2465Met) rs78858677
NM_001365999.1(SZT2):c.7446G>A (p.Glu2482=) rs979339741
NM_001365999.1(SZT2):c.7516C>T (p.Arg2506Trp) rs200935344
NM_001365999.1(SZT2):c.7652G>A (p.Arg2551Gln)
NM_001365999.1(SZT2):c.7724G>A (p.Arg2575His) rs147818016
NM_001365999.1(SZT2):c.7724G>T (p.Arg2575Leu) rs147818016
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) rs2153935815
NM_001365999.1(SZT2):c.7765G>A (p.Gly2589Ser) rs780094265
NM_001365999.1(SZT2):c.7812T>A (p.Ala2604=) rs551577660
NM_001365999.1(SZT2):c.7874-16C>G rs72883828
NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp) rs906119040
NM_001365999.1(SZT2):c.8027G>A (p.Arg2676Gln) rs758138686
NM_001365999.1(SZT2):c.8179A>G (p.Met2727Val) rs755144394
NM_001365999.1(SZT2):c.847C>T (p.Arg283Cys) rs1557534581
NM_001365999.1(SZT2):c.8593C>T (p.Pro2865Ser) rs146439294
NM_001365999.1(SZT2):c.8594C>G (p.Pro2865Arg) rs374031590
NM_001365999.1(SZT2):c.8594C>T (p.Pro2865Leu) rs374031590
NM_001365999.1(SZT2):c.8678G>A (p.Cys2893Tyr) rs1655337972
NM_001365999.1(SZT2):c.8711G>A (p.Arg2904His) rs769574689
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.8930C>A (p.Pro2977Gln) rs761830930
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
NM_001365999.1(SZT2):c.9131C>T (p.Ser3044Leu)
NM_001365999.1(SZT2):c.9339C>T (p.Tyr3113=)
NM_001365999.1(SZT2):c.9359C>A (p.Ser3120Tyr) rs2153936812
NM_001365999.1(SZT2):c.9409_9411del (p.Asn3137del) rs1655841167
NM_001365999.1(SZT2):c.9460T>C (p.Ser3154Pro) rs1271549438
NM_001365999.1(SZT2):c.9523C>G (p.Pro3175Ala) rs772312797
NM_001365999.1(SZT2):c.9577G>C (p.Val3193Leu) rs779432358
NM_001365999.1(SZT2):c.9665C>T (p.Pro3222Leu) rs531733494
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp) rs538720577
NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=) rs867941005
NM_001365999.1(SZT2):c.9881G>A (p.Arg3294Gln)
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) rs534948696
NM_001365999.1(SZT2):c.9887G>A (p.Gly3296Glu) rs368272173
NM_001365999.1(SZT2):c.9934C>T (p.His3312Tyr)
NM_001367561.1(DOCK7):c.1254T>A (p.Asp418Glu) rs1022211823
NM_001367561.1(DOCK7):c.1283-14del rs541344421
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.1610G>A (p.Ser537Asn) rs1327760633
NM_001367561.1(DOCK7):c.1683-15199A>G rs77871363
NM_001367561.1(DOCK7):c.171A>C (p.Pro57=)
NM_001367561.1(DOCK7):c.1872-9del rs199915737
NM_001367561.1(DOCK7):c.1872-9dup rs199915737
NM_001367561.1(DOCK7):c.1985C>T (p.Pro662Leu) rs1417203749
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp) rs747830413
NM_001367561.1(DOCK7):c.2654G>T (p.Arg885Ile) rs1645953907
NM_001367561.1(DOCK7):c.2747G>T (p.Arg916Leu) rs781276473
NM_001367561.1(DOCK7):c.280C>T (p.Arg94Trp) rs1657688175
NM_001367561.1(DOCK7):c.3065A>T (p.His1022Leu)
NM_001367561.1(DOCK7):c.3326C>T (p.Pro1109Leu) rs537709953
NM_001367561.1(DOCK7):c.3486T>G (p.Ser1162=)
NM_001367561.1(DOCK7):c.3676G>A (p.Asp1226Asn) rs1645108056
NM_001367561.1(DOCK7):c.3695C>G (p.Pro1232Arg) rs760813445
NM_001367561.1(DOCK7):c.3852_3854del (p.Met1284del) rs751833296
NM_001367561.1(DOCK7):c.390A>G (p.Lys130=) rs550800563
NM_001367561.1(DOCK7):c.4003G>A (p.Val1335Ile) rs761527184
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001367561.1(DOCK7):c.4394T>C (p.Ile1465Thr) rs1280481112
NM_001367561.1(DOCK7):c.5172G>A (p.Met1724Ile) rs772608037
NM_001367561.1(DOCK7):c.5302T>C (p.Tyr1768His) rs1357890326
NM_001367561.1(DOCK7):c.5368A>T (p.Met1790Leu) rs1646380754
NM_001367561.1(DOCK7):c.541A>G (p.Met181Val) rs61743961
NM_001367561.1(DOCK7):c.5731A>G (p.Ile1911Val) rs1645957860
NM_001367561.1(DOCK7):c.5829C>T (p.Tyr1943=)
NM_001367561.1(DOCK7):c.6381-6dup rs773882812
NM_001367561.1(DOCK7):c.691C>T (p.Arg231Cys) rs1254316274
NM_001367561.1(DOCK7):c.868G>A (p.Val290Ile) rs1329011971
NM_001367561.1(DOCK7):c.964A>G (p.Ile322Val) rs2149634956
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001378457.1(DMXL2):c.7520+35del rs10706765
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_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101
NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs) rs398122988
NM_014495.4(ANGPTL3):c.496-17_496-14del rs558543283
NM_014495.4(ANGPTL3):c.995G>A (p.Arg332Gln)
NM_016373.4(WWOX):c.1057-14T>C rs66481974
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.535G>A (p.Ala179Thr) rs11545029
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_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val) rs988871689
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1511-12C>A rs549024643
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1620-10_1620-5dup rs754045989
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
NM_020822.3(KCNT1):c.1769+6G>A rs927454585
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2172C>G (p.Pro724=) rs1354699667
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.2349+7C>T rs190849453
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
NM_020822.3(KCNT1):c.254+18_254+19dup rs141291153
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr) rs1318262895
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
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[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.3027+18_3027+22del rs778352896
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
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.3178-26GCCCT[6] rs757968008
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val) rs1834060931
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala) rs549276113
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.534G>C (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.600+11G>A rs375220600
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.711C>T (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) rs1831785244
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_173354.5(SIK1):c.748+17C>T rs75559179
NM_177550.5(SLC13A5):c.-5G>A rs201070767
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) rs1064796654
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.1001A>G (p.Asp334Gly) rs2146090425

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