ClinVar Miner

List of variants studied for muscular channelopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5422
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251 0.44456
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39778
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852 0.37404
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714 0.24503
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527 0.24484
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169 0.24315
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476 0.23047
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170 0.22856
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905 0.19414
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.1845+12C>G rs776175702 0.15279
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149 0.11390
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674 0.09605
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625 0.08709
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034 0.03828
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623 0.02892
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669 0.02707
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512 0.02512
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942 0.01893
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368 0.01791
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922 0.01785
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312 0.01651
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724 0.01059
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538 0.01045
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054 0.00927
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_000083.3(CLCN1):c.1797-9C>T rs41276057 0.00913
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697 0.00848
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_000083.3(CLCN1):c.302-4C>T rs113839156 0.00780
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117 0.00658
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664 0.00657
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724 0.00615
NM_000069.3(CACNA1S):c.399-14C>T rs116534514 0.00590
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172 0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736 0.00506
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718 0.00479
NM_000334.4(SCN4A):c.404T>C (p.Met135Thr) rs115304957 0.00467
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324 0.00448
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198 0.00313
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510 0.00253
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000069.3(CACNA1S):c.5134+8C>T rs114243233 0.00238
NM_000069.3(CACNA1S):c.2227+15G>A rs192276596 0.00236
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000334.4(SCN4A):c.612-18C>A rs377510393 0.00232
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00208
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115 0.00187
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00155
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro) rs147352060 0.00141
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00132
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00098
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000083.3(CLCN1):c.1990C>T (p.His664Tyr) rs201218706 0.00097
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794 0.00089
NM_000069.3(CACNA1S):c.2259G>A (p.Pro753=) rs200971359 0.00088
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240 0.00087
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_000334.4(SCN4A):c.3774+8G>A rs374806849 0.00064
NM_000069.3(CACNA1S):c.2430G>C (p.Leu810=) rs146230812 0.00062
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser) rs376505442 0.00062
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00060
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met) rs113462659 0.00058
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784 0.00056
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00054
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465 0.00053
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met) rs150954040 0.00049
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042 0.00049
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000083.3(CLCN1):c.853+17C>A rs201114390 0.00044
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_000334.4(SCN4A):c.5424G>A (p.Met1808Ile) rs201375413 0.00042
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=) rs148132102 0.00038
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser) rs143075418 0.00034
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile) rs143202536 0.00032
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669 0.00031
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269 0.00027
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) rs141618437 0.00027
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000334.4(SCN4A):c.1623C>G (p.His541Gln) rs538390338 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000334.4(SCN4A):c.1242+15A>C rs750532418 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=) rs375621334 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_000083.3(CLCN1):c.563-9C>T rs201404573 0.00025
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys) rs147392278 0.00024
NM_000083.3(CLCN1):c.1583-20G>A rs371387287 0.00024
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111 0.00023
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601 0.00022
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972 0.00022
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341 0.00021
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078 0.00021
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000069.3(CACNA1S):c.3256-12T>A rs374335683 0.00019
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00019
NM_000083.3(CLCN1):c.1583-12G>A rs374736253 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.2028G>A (p.Glu676=) rs543195467 0.00019
NM_000083.3(CLCN1):c.2172+3G>A rs758964825 0.00019
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000334.4(SCN4A):c.3285C>T (p.Asn1095=) rs371401377 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) rs774160640 0.00017
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=) rs374324793 0.00017
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) rs576536458 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000069.3(CACNA1S):c.2490+5C>T rs369813191 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750 0.00015
NM_000069.3(CACNA1S):c.2853+16C>T rs374793204 0.00015
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) rs563423438 0.00015
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000334.4(SCN4A):c.5472G>A (p.Gly1824=) rs576801452 0.00015
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000334.4(SCN4A):c.552C>T (p.Asp184=) rs370730079 0.00014
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=) rs587781006 0.00014
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000069.3(CACNA1S):c.2658-9G>A rs367580345 0.00013
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480 0.00013
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530 0.00012
NM_000069.3(CACNA1S):c.2418G>A (p.Leu806=) rs182634146 0.00012
NM_000069.3(CACNA1S):c.2906+10G>T rs748231032 0.00012
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=) rs183440052 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322 0.00011
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys) rs756612471 0.00011
NM_000069.3(CACNA1S):c.1818C>T (p.Ser606=) rs34025878 0.00011
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg) rs201174511 0.00011
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077 0.00011
NM_000069.3(CACNA1S):c.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala) rs199691275 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 0.00011
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000083.3(CLCN1):c.1402-18C>T rs371600067 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.3774+20A>G rs377552760 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=) rs551369705 0.00011
NM_000891.3(KCNJ2):c.168T>C (p.Val56=) rs370111593 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala) rs202217590 0.00010
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 0.00010
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00010
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00010
NM_000083.3(CLCN1):c.2596-9G>T rs200308662 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg) rs376833596 0.00010
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) rs201909993 0.00010
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.3126C>A (p.Ala1042=) rs748848750 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111 0.00009
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034 0.00009
NM_000069.3(CACNA1S):c.888C>T (p.Asp296=) rs775610804 0.00009
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660 0.00009
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193 0.00009
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890 0.00009
NM_000083.3(CLCN1):c.2403+4A>C rs372826693 0.00009
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) rs147581794 0.00009
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) rs145412643 0.00009
NM_000083.3(CLCN1):c.434-14A>G rs200263856 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=) rs140274795 0.00009
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=) rs768120590 0.00009
NM_000069.3(CACNA1S):c.2145C>T (p.Pro715=) rs532432558 0.00008
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4194C>T (p.His1398=) rs368919048 0.00008
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=) rs370339547 0.00008
NM_000083.3(CLCN1):c.24G>A (p.Gln8=) rs150304865 0.00008
NM_000083.3(CLCN1):c.2544C>T (p.Leu848=) rs140111476 0.00008
NM_000083.3(CLCN1):c.434-4G>A rs368048336 0.00008
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) rs143506735 0.00008
NM_000083.3(CLCN1):c.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000083.3(CLCN1):c.987C>T (p.Ile329=) rs140664749 0.00008
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.3084C>A (p.Val1028=) rs377273244 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) rs572977674 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212 0.00007
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752 0.00007
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys) rs745571736 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987 0.00007
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000083.3(CLCN1):c.180+11C>T rs540424567 0.00007
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_000083.3(CLCN1):c.2875A>G (p.Ser959Gly) rs779694767 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2295C>A (p.Thr765=) rs370434474 0.00007
NM_000334.4(SCN4A):c.238C>T (p.Leu80=) rs768080216 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.483-8C>T rs566047339 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) rs66476803 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116 0.00007
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886 0.00006
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664 0.00006
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367 0.00006
NM_000069.3(CACNA1S):c.1740C>T (p.Leu580=) rs749654014 0.00006
NM_000069.3(CACNA1S):c.1815C>T (p.Ile605=) rs757733492 0.00006
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) rs377461013 0.00006
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=) rs61734612 0.00006
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln) rs553619980 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.2550+17G>A rs186271965 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.3843C>T (p.Tyr1281=) rs371582901 0.00006
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00006
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.5048+9G>A rs375072747 0.00006
NM_000069.3(CACNA1S):c.516C>T (p.Pro172=) rs779274568 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His) rs766838790 0.00006
NM_000069.3(CACNA1S):c.834C>T (p.Phe278=) rs148625301 0.00006
NM_000069.3(CACNA1S):c.900+16C>T rs372464425 0.00006
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000083.3(CLCN1):c.2509-14C>G rs761510529 0.00006
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe) rs769053787 0.00006
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508 0.00006
NM_000083.3(CLCN1):c.345G>A (p.Gly115=) rs755112173 0.00006
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068 0.00006
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) rs772027125 0.00006
NM_000083.3(CLCN1):c.957G>A (p.Leu319=) rs746212684 0.00006
NM_000334.4(SCN4A):c.1173C>T (p.Thr391=) rs376062556 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155 0.00006
NM_000334.4(SCN4A):c.2054C>T (p.Thr685Met) rs140022722 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.2610G>A (p.Ala870=) rs375918619 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.2920G>A (p.Glu974Lys) rs751751228 0.00006
NM_000334.4(SCN4A):c.3018C>T (p.Tyr1006=) rs755880799 0.00006
NM_000334.4(SCN4A):c.3027C>T (p.Ile1009=) rs750690287 0.00006
NM_000334.4(SCN4A):c.3221A>T (p.Tyr1074Phe) rs753318973 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4680G>A (p.Pro1560=) rs370207597 0.00006
NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=) rs562551941 0.00006
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys) rs369430918 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5128C>T (p.Pro1710Ser) rs762735966 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5436C>A (p.Pro1812=) rs377620682 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000334.4(SCN4A):c.787G>A (p.Val263Ile) rs775418104 0.00006
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=) rs748924113 0.00006
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=) rs141965142 0.00006
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=) rs146400205 0.00005
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.3(CACNA1S):c.1619+16G>A rs148454228 0.00005
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 0.00005
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094 0.00005
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) rs139860737 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=) rs138328785 0.00005
NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp) rs527520015 0.00005
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.3982A>G (p.Ile1328Val) rs777426409 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.542G>C (p.Ser181Thr) rs1046958622 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) rs760398733 0.00005
NM_000083.3(CLCN1):c.1263C>T (p.Arg421=) rs745472087 0.00005
NM_000083.3(CLCN1):c.1311G>A (p.Ala437=) rs766616816 0.00005
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) rs769811983 0.00005
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu) rs149188892 0.00005
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546 0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264 0.00005
NM_000083.3(CLCN1):c.853+7G>A rs111386182 0.00005
NM_000334.4(SCN4A):c.1461C>T (p.Ala487=) rs541858248 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile) rs766975288 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) rs376432808 0.00005
NM_000334.4(SCN4A):c.2729A>T (p.Asp910Val) rs565408498 0.00005
NM_000334.4(SCN4A):c.3093C>G (p.Asn1031Lys) rs779124566 0.00005
NM_000334.4(SCN4A):c.3516G>A (p.Leu1172=) rs200061238 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.459G>A (p.Pro153=) rs201227173 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000334.4(SCN4A):c.4881C>T (p.Phe1627=) rs771914246 0.00005
NM_000334.4(SCN4A):c.5085C>T (p.Asp1695=) rs755769915 0.00005
NM_000334.4(SCN4A):c.5292C>T (p.Asp1764=) rs773576176 0.00005
NM_000334.4(SCN4A):c.5343C>T (p.Gly1781=) rs745441690 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val) rs753757610 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.1393+13G>A rs368898958 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.152+9C>T rs202183450 0.00004
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604 0.00004
NM_000069.3(CACNA1S):c.1719C>T (p.Phe573=) rs759501199 0.00004
NM_000069.3(CACNA1S):c.1827+17C>T rs373219605 0.00004
NM_000069.3(CACNA1S):c.1948+11G>A rs199852936 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe) rs756870237 0.00004
NM_000069.3(CACNA1S):c.2217C>T (p.Ala739=) rs200379217 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val) rs372668776 0.00004
NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly) rs1174225838 0.00004
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.2874C>T (p.Thr958=) rs200427762 0.00004
NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys) rs143722841 0.00004
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys) rs781178565 0.00004
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000069.3(CACNA1S):c.3696C>T (p.Ser1232=) rs570706043 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.3906G>T (p.Arg1302=) rs375189627 0.00004
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn) rs372383822 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) rs200538716 0.00004
NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=) rs149668892 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val) rs369332959 0.00004
NM_000069.3(CACNA1S):c.4668+6C>T rs752849401 0.00004
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys) rs368421264 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.471C>T (p.Ala157=) rs768664157 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00004
NM_000069.3(CACNA1S):c.5049-6T>C rs372192645 0.00004
NM_000069.3(CACNA1S):c.5325T>C (p.Asn1775=) rs762606454 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.565A>G (p.Ile189Val) rs749551758 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln) rs758594181 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121 0.00004
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787 0.00004
NM_000069.3(CACNA1S):c.901-16C>A rs753250644 0.00004
NM_000083.3(CLCN1):c.1085G>C (p.Gly362Ala) rs758597490 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln) rs754440141 0.00004
NM_000083.3(CLCN1):c.1371C>T (p.Val457=) rs368928958 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) rs367696668 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) rs908274887 0.00004
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00004
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser) rs780173260 0.00004
NM_000083.3(CLCN1):c.2265G>A (p.Pro755=) rs761474906 0.00004
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) rs774199742 0.00004
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val) rs145280046 0.00004
NM_000083.3(CLCN1):c.616T>C (p.Tyr206His) rs963470037 0.00004
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) rs757481015 0.00004
NM_000083.3(CLCN1):c.780A>G (p.Pro260=) rs1339281633 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.1135G>A (p.Gly379Arg) rs201429528 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1221T>C (p.Tyr407=) rs1450986503 0.00004
NM_000334.4(SCN4A):c.1353C>T (p.Ala451=) rs779308374 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2112G>A (p.Thr704=) rs374119331 0.00004
NM_000334.4(SCN4A):c.2235T>C (p.His745=) rs777157991 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.2377-5C>T rs560170181 0.00004
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.2452G>A (p.Glu818Lys) rs541785064 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.2853+8G>A rs377221069 0.00004
NM_000334.4(SCN4A):c.2886G>A (p.Ser962=) rs779571330 0.00004
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys) rs369128679 0.00004
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00004
NM_000334.4(SCN4A):c.3442-18G>T rs377676692 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3721-20C>T rs758053088 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val) rs777298727 0.00004
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=) rs769542012 0.00004
NM_000334.4(SCN4A):c.4034T>C (p.Met1345Thr) rs543985308 0.00004
NM_000334.4(SCN4A):c.4288+6C>T rs148187651 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5145C>T (p.Tyr1715=) rs768902509 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.5233C>T (p.Arg1745Cys) rs749841448 0.00004
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His) rs373278632 0.00004
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.611+9G>A rs541455106 0.00004
NM_000334.4(SCN4A):c.614A>G (p.Tyr205Cys) rs1021505320 0.00004
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met) rs201661188 0.00004
NM_000334.4(SCN4A):c.738G>A (p.Ser246=) rs753221621 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn) rs376680315 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=) rs150855087 0.00004
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met) rs144022753 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val) rs150326473 0.00004
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=) rs183993685 0.00004
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=) rs771056622 0.00004
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1384C>T (p.Arg462Cys) rs747376751 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1393+18G>T rs199625342 0.00003
NM_000069.3(CACNA1S):c.1393+8G>A rs372197177 0.00003
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn) rs372497364 0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val) rs776996468 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000069.3(CACNA1S):c.2228-9T>C rs1030557258 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518 0.00003
NM_000069.3(CACNA1S):c.2415C>T (p.Ile805=) rs267598294 0.00003
NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=) rs373510147 0.00003
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg) rs146903750 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=) rs759359831 0.00003
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys) rs770099347 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3039C>T (p.Phe1013=) rs139235699 0.00003
NM_000069.3(CACNA1S):c.3084G>A (p.Ala1028=) rs764100695 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845 0.00003
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser) rs764602257 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.3677A>G (p.Glu1226Gly) rs150164738 0.00003
NM_000069.3(CACNA1S):c.3796-20C>T rs543850144 0.00003
NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=) rs990173222 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met) rs780785403 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=) rs752911523 0.00003
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945 0.00003
NM_000069.3(CACNA1S):c.5004C>T (p.Val1668=) rs140268231 0.00003
NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile) rs374294701 0.00003
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928 0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu) rs374763528 0.00003
NM_000069.3(CACNA1S):c.695-8G>A rs779849127 0.00003
NM_000069.3(CACNA1S):c.699C>T (p.Ile233=) rs756008578 0.00003
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln) rs776311349 0.00003
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp) rs577022740 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511 0.00003
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn) rs1031445351 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212 0.00003
NM_000083.3(CLCN1):c.1467G>A (p.Val489=) rs773153574 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=) rs778647317 0.00003
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) rs371701131 0.00003
NM_000083.3(CLCN1):c.180+10T>C rs758693006 0.00003
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.2097C>T (p.Gly699=) rs778181599 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg) rs752494680 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683 0.00003
NM_000083.3(CLCN1):c.33T>C (p.Gly11=) rs780696139 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) rs760323048 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000334.4(SCN4A):c.1425C>G (p.Phe475Leu) rs371725584 0.00003
NM_000334.4(SCN4A):c.1539G>A (p.Ser513=) rs758833537 0.00003
NM_000334.4(SCN4A):c.1593C>T (p.Ser531=) rs139988178 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.2149G>A (p.Val717Met) rs770283788 0.00003
NM_000334.4(SCN4A):c.2163G>A (p.Leu721=) rs371312493 0.00003
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile) rs747401713 0.00003
NM_000334.4(SCN4A):c.237C>T (p.Pro79=) rs374261960 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.2574C>T (p.Leu858=) rs184107335 0.00003
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg) rs867372759 0.00003
NM_000334.4(SCN4A):c.3176G>A (p.Arg1059Gln) rs749433088 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.3721-14C>G rs761700338 0.00003
NM_000334.4(SCN4A):c.4010G>A (p.Arg1337Gln) rs779953580 0.00003
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=) rs755256694 0.00003
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met) rs572380012 0.00003
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile) rs369929462 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4288+7G>C rs773803283 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) rs774453167 0.00003
NM_000334.4(SCN4A):c.4540G>A (p.Asp1514Asn) rs374278037 0.00003
NM_000334.4(SCN4A):c.4545T>C (p.Asp1515=) rs924795809 0.00003
NM_000334.4(SCN4A):c.4704C>T (p.Cys1568=) rs548305586 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000334.4(SCN4A):c.855G>A (p.Pro285=) rs763725074 0.00003
NM_000334.4(SCN4A):c.878C>T (p.Thr293Met) rs747481717 0.00003
NM_000334.4(SCN4A):c.879G>A (p.Thr293=) rs780568994 0.00003
NM_000334.4(SCN4A):c.964G>A (p.Asp322Asn) rs777516201 0.00003
NM_000334.4(SCN4A):c.96G>A (p.Ala32=) rs575515777 0.00003
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met) rs759070406 0.00003
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=) rs1279223538 0.00003
NM_000891.3(KCNJ2):c.1227C>T (p.His409=) rs933444870 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=) rs192172778 0.00003
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His) rs140090605 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=) rs573888708 0.00003
NM_000069.3(CACNA1S):c.1044A>G (p.Gly348=) rs376276490 0.00002
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp) rs751247956 0.00002
NM_000069.3(CACNA1S):c.1113G>A (p.Thr371=) rs202245647 0.00002
NM_000069.3(CACNA1S):c.1120G>A (p.Glu374Lys) rs758280510 0.00002
NM_000069.3(CACNA1S):c.114C>A (p.Asn38Lys) rs756619964 0.00002
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.120G>A (p.Leu40=) rs1420406971 0.00002
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1398T>C (p.Ile466=) rs750207191 0.00002
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) rs553739117 0.00002
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) rs1384040104 0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu) rs748021245 0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val) rs185777948 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000069.3(CACNA1S):c.1954C>T (p.Leu652=) rs781471427 0.00002
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783 0.00002
NM_000069.3(CACNA1S):c.2166C>T (p.Ile722=) rs369317595 0.00002
NM_000069.3(CACNA1S):c.2235C>T (p.Asp745=) rs754971473 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 0.00002
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687 0.00002
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536 0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173 0.00002
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.303C>T (p.Ala101=) rs774035496 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe) rs774511818 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.3666+18G>A rs367683228 0.00002
NM_000069.3(CACNA1S):c.3729G>A (p.Leu1243=) rs370688176 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.3796-10C>T rs199678161 0.00002
NM_000069.3(CACNA1S):c.3888T>C (p.Asp1296=) rs769128110 0.00002
NM_000069.3(CACNA1S):c.4008G>A (p.Lys1336=) rs374426148 0.00002
NM_000069.3(CACNA1S):c.4023G>A (p.Glu1341=) rs753756026 0.00002
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483 0.00002
NM_000069.3(CACNA1S):c.4242-5C>T rs749316339 0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) rs1224786667 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.4502C>A (p.Thr1501Asn) rs928580339 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497 0.00002
NM_000069.3(CACNA1S):c.5135-14C>T rs762466711 0.00002
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700 0.00002
NM_000069.3(CACNA1S):c.5217C>T (p.Ala1739=) rs772010734 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) rs374660431 0.00002
NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp) rs746407476 0.00002
NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr) rs777333498 0.00002
NM_000069.3(CACNA1S):c.556C>T (p.Leu186=) rs774618678 0.00002
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.735C>T (p.Cys245=) rs768251314 0.00002
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp) rs555596737 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile) rs763637720 0.00002
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly) rs201585867 0.00002
NM_000069.3(CACNA1S):c.90C>G (p.Ala30=) rs779221524 0.00002
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1416C>T (p.Ile472=) rs372034290 0.00002
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1767C>T (p.Tyr589=) rs746535507 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) rs1424799320 0.00002
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818 0.00002
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) rs760693424 0.00002
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2022C>G (p.Ala674=) rs762947178 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 0.00002
NM_000083.3(CLCN1):c.2338C>T (p.Arg780Cys) rs138062220 0.00002
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser) rs117661165 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.2509-16T>G rs774042985 0.00002
NM_000083.3(CLCN1):c.2595+8C>T rs760261738 0.00002
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr) rs764347321 0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543 0.00002
NM_000083.3(CLCN1):c.392T>C (p.Val131Ala) rs769391461 0.00002
NM_000083.3(CLCN1):c.434-5C>T rs1290037207 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.655C>T (p.Leu219=) rs1427322271 0.00002
NM_000083.3(CLCN1):c.720C>T (p.Ser240=) rs764402957 0.00002
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000083.3(CLCN1):c.830dup (p.Cys277fs) rs140026363 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000083.3(CLCN1):c.99C>T (p.Tyr33=) rs138922145 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1036+20C>T rs755836242 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1293C>T (p.Ile431=) rs753010557 0.00002
NM_000334.4(SCN4A):c.1332C>T (p.Ala444=) rs761874460 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.1387G>C (p.Glu463Gln) rs766046044 0.00002
NM_000334.4(SCN4A):c.150C>T (p.Pro50=) rs374359880 0.00002
NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln) rs376523210 0.00002
NM_000334.4(SCN4A):c.1800C>T (p.Tyr600=) rs778746718 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.1983C>T (p.Asn661=) rs370216331 0.00002
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val) rs1395381249 0.00002
NM_000334.4(SCN4A):c.2146G>A (p.Val716Met) rs773527089 0.00002
NM_000334.4(SCN4A):c.2198T>C (p.Ile733Thr) rs753865616 0.00002
NM_000334.4(SCN4A):c.2207A>G (p.Asp736Gly) rs1397719163 0.00002
NM_000334.4(SCN4A):c.2262C>T (p.Val754=) rs372634288 0.00002
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser) rs369547459 0.00002
NM_000334.4(SCN4A):c.2356A>G (p.Met786Val) rs778729831 0.00002
NM_000334.4(SCN4A):c.2420C>T (p.Ala807Val) rs749013806 0.00002
NM_000334.4(SCN4A):c.2439G>A (p.Ser813=) rs137890985 0.00002
NM_000334.4(SCN4A):c.2449G>A (p.Gly817Ser) rs746797094 0.00002
NM_000334.4(SCN4A):c.2469G>A (p.Gln823=) rs1020010363 0.00002
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg) rs1028907866 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.2747A>G (p.Asn916Ser) rs767053007 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2784C>T (p.Ser928=) rs775693710 0.00002
NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp) rs371920760 0.00002
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330 0.00002
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu) rs201367621 0.00002
NM_000334.4(SCN4A):c.2885C>T (p.Ser962Leu) rs746676885 0.00002
NM_000334.4(SCN4A):c.2989+7G>A rs558907834 0.00002
NM_000334.4(SCN4A):c.2990-8C>T rs369430465 0.00002
NM_000334.4(SCN4A):c.2994C>T (p.Cys998=) rs185803223 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3039T>C (p.Arg1013=) rs1319435457 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3272T>C (p.Val1091Ala) rs1470875535 0.00002
NM_000334.4(SCN4A):c.3318+17T>C rs766325793 0.00002
NM_000334.4(SCN4A):c.3318+6T>C rs981437343 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp) rs778176181 0.00002
NM_000334.4(SCN4A):c.3402G>T (p.Leu1134=) rs769404443 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.3525C>T (p.Ser1175=) rs750868036 0.00002
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 0.00002
NM_000334.4(SCN4A):c.3681C>T (p.Tyr1227=) rs368851367 0.00002
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577 0.00002
NM_000334.4(SCN4A):c.3876C>T (p.Gly1292=) rs1461420199 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108 0.00002
NM_000334.4(SCN4A):c.4236C>A (p.Phe1412Leu) rs747252041 0.00002
NM_000334.4(SCN4A):c.4264G>A (p.Val1422Met) rs567183255 0.00002
NM_000334.4(SCN4A):c.4359G>A (p.Ala1453=) rs757915411 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4419C>T (p.Phe1473=) rs374319193 0.00002
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) rs753725579 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4805A>G (p.Asn1602Ser) rs756174308 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.4878G>A (p.Lys1626=) rs374337084 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5020A>G (p.Ile1674Val) rs752187063 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.5234G>A (p.Arg1745His) rs376526108 0.00002
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu) rs750560473 0.00002
NM_000334.4(SCN4A):c.53G>A (p.Arg18His) rs557359808 0.00002
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys) rs933258893 0.00002
NM_000334.4(SCN4A):c.703+9G>A rs374667853 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000334.4(SCN4A):c.897G>A (p.Thr299=) rs553636410 0.00002
NM_000334.4(SCN4A):c.969G>A (p.Thr323=) rs1429424012 0.00002
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=) rs372264881 0.00002
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr) rs774424161 0.00002
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr) rs786205813 0.00002
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=) rs776798798 0.00002
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=) rs775567368 0.00002
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=) rs142750807 0.00002
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=) rs751279819 0.00002
NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr) rs1019448884 0.00001
NM_000069.3(CACNA1S):c.1004+20C>A rs751411574 0.00001
NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala) rs752737494 0.00001
NM_000069.3(CACNA1S):c.1045A>T (p.Thr349Ser) rs752737494 0.00001
NM_000069.3(CACNA1S):c.106C>T (p.Leu36=) rs987261263 0.00001
NM_000069.3(CACNA1S):c.1132G>A (p.Val378Ile) rs577240103 0.00001
NM_000069.3(CACNA1S):c.1146A>G (p.Arg382=) rs1280543232 0.00001
NM_000069.3(CACNA1S):c.1150+14G>A rs776256379 0.00001
NM_000069.3(CACNA1S):c.1151-3C>T rs1661980696 0.00001
NM_000069.3(CACNA1S):c.1156C>T (p.Leu386=) rs575134797 0.00001
NM_000069.3(CACNA1S):c.1194G>A (p.Leu398=) rs200689828 0.00001
NM_000069.3(CACNA1S):c.1233-15T>C rs376591072 0.00001
NM_000069.3(CACNA1S):c.1233-1G>A rs760082356 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) rs1303215579 0.00001
NM_000069.3(CACNA1S):c.1254C>T (p.Asn418=) rs769532451 0.00001
NM_000069.3(CACNA1S):c.1323C>T (p.Ile441=) rs1236795297 0.00001
NM_000069.3(CACNA1S):c.1356G>A (p.Glu452=) rs760677210 0.00001
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=) rs767568799 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1461C>A (p.Gly487=) rs748760411 0.00001
NM_000069.3(CACNA1S):c.1497C>T (p.Phe499=) rs1309387978 0.00001
NM_000069.3(CACNA1S):c.1502G>T (p.Cys501Phe) rs767628675 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1518C>T (p.Ser506=) rs780958897 0.00001
NM_000069.3(CACNA1S):c.1526T>C (p.Leu509Pro) rs369852385 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1558A>C (p.Thr520Pro) rs1182197306 0.00001
NM_000069.3(CACNA1S):c.1576G>A (p.Val526Met) rs557195329 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=) rs774899299 0.00001
NM_000069.3(CACNA1S):c.1656G>A (p.Leu552=) rs755365324 0.00001
NM_000069.3(CACNA1S):c.1677C>T (p.Ile559=) rs372013296 0.00001
NM_000069.3(CACNA1S):c.1690C>T (p.Leu564=) rs964085624 0.00001
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) rs376841055 0.00001
NM_000069.3(CACNA1S):c.1791T>C (p.Phe597=) rs200887343 0.00001
NM_000069.3(CACNA1S):c.1793A>T (p.Asp598Val) rs749475822 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1828-3C>T rs1445072481 0.00001
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692 0.00001
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser) rs766576671 0.00001
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) rs1347247620 0.00001
NM_000069.3(CACNA1S):c.1948+19G>A rs886038222 0.00001
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) rs757750396 0.00001
NM_000069.3(CACNA1S):c.1959C>G (p.Leu653=) rs1414491241 0.00001
NM_000069.3(CACNA1S):c.1A>G (p.Met1Val) rs201803122 0.00001
NM_000069.3(CACNA1S):c.2000C>T (p.Ala667Val) rs753183910 0.00001
NM_000069.3(CACNA1S):c.201C>T (p.Ala67=) rs1383561230 0.00001
NM_000069.3(CACNA1S):c.2064-20C>T rs373176654 0.00001
NM_000069.3(CACNA1S):c.209T>C (p.Val70Ala) rs747599178 0.00001
NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) rs1473781692 0.00001
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) rs1057524027 0.00001
NM_000069.3(CACNA1S):c.2158-14G>A rs780867598 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 0.00001
NM_000069.3(CACNA1S):c.2187C>T (p.Val729=) rs770255183 0.00001
NM_000069.3(CACNA1S):c.2229G>A (p.Gly743=) rs368154721 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu) rs779684649 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys) rs777247285 0.00001
NM_000069.3(CACNA1S):c.2280C>T (p.Pro760=) rs996079936 0.00001
NM_000069.3(CACNA1S):c.2281C>T (p.Leu761=) rs746563591 0.00001
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) rs1427158400 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2385C>T (p.Ile795=) rs200730765 0.00001
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser) rs752667224 0.00001
NM_000069.3(CACNA1S):c.2442T>C (p.Ala814=) rs1198118590 0.00001
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg) rs1356510559 0.00001
NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=) rs1160627876 0.00001
NM_000069.3(CACNA1S):c.2571C>T (p.Phe857=) rs764738319 0.00001
NM_000069.3(CACNA1S):c.258+7T>C rs1243109044 0.00001
NM_000069.3(CACNA1S):c.2631C>T (p.Ala877=) rs747402764 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2658-5C>T rs1476160747 0.00001
NM_000069.3(CACNA1S):c.2674G>A (p.Val892Met) rs146823170 0.00001
NM_000069.3(CACNA1S):c.2688G>A (p.Leu896=) rs945772592 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) rs1013152799 0.00001
NM_000069.3(CACNA1S):c.2745+11G>T rs756261167 0.00001
NM_000069.3(CACNA1S):c.2746-8G>C rs1572039133 0.00001
NM_000069.3(CACNA1S):c.2763G>T (p.Met921Ile) rs965862537 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.276C>T (p.Phe92=) rs774994749 0.00001
NM_000069.3(CACNA1S):c.2770G>T (p.Ala924Ser) rs1442305463 0.00001
NM_000069.3(CACNA1S):c.2791A>G (p.Ile931Val) rs778518002 0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) rs569324688 0.00001
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) rs550479246 0.00001
NM_000069.3(CACNA1S):c.2854-4G>A rs1421864888 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2862C>T (p.Phe954=) rs1402878092 0.00001
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu) rs200300308 0.00001
NM_000069.3(CACNA1S):c.288C>T (p.Val96=) rs548832647 0.00001
NM_000069.3(CACNA1S):c.2895G>A (p.Glu965=) rs1310231316 0.00001
NM_000069.3(CACNA1S):c.2907-16G>A rs756591873 0.00001
NM_000069.3(CACNA1S):c.2910C>T (p.Gly970=) rs1572035925 0.00001
NM_000069.3(CACNA1S):c.2921T>A (p.Val974Glu) rs974247677 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) rs374912997 0.00001
NM_000069.3(CACNA1S):c.294G>A (p.Ser98=) rs201012916 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 0.00001
NM_000069.3(CACNA1S):c.3036C>T (p.Thr1012=) rs1661064920 0.00001
NM_000069.3(CACNA1S):c.3054-19C>A rs768208345 0.00001
NM_000069.3(CACNA1S):c.3054-6C>T rs1414012957 0.00001
NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=) rs141956714 0.00001
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser) rs757112281 0.00001
NM_000069.3(CACNA1S):c.3096T>A (p.Gly1032=) rs1661044517 0.00001
NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) rs143836984 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.315C>T (p.Ile105=) rs756365041 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.3173A>G (p.Asn1058Ser) rs777876303 0.00001
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550 0.00001
NM_000069.3(CACNA1S):c.3195T>G (p.Ile1065Met) rs767698922 0.00001
NM_000069.3(CACNA1S):c.321C>T (p.Ala107=) rs772876806 0.00001
NM_000069.3(CACNA1S):c.3237T>C (p.Cys1079=) rs1398878764 0.00001
NM_000069.3(CACNA1S):c.323A>G (p.Tyr108Cys) rs768322856 0.00001
NM_000069.3(CACNA1S):c.3256-9G>A rs1294455750 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.3390C>G (p.Leu1130=) rs140294191 0.00001
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864 0.00001
NM_000069.3(CACNA1S):c.3405C>T (p.Leu1135=) rs777887405 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3414+10C>T rs373169793 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu) rs756712640 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.3463G>A (p.Val1155Met) rs1362149806 0.00001
NM_000069.3(CACNA1S):c.3525+19G>A rs768948072 0.00001
NM_000069.3(CACNA1S):c.3526-3C>T rs753852308 0.00001
NM_000069.3(CACNA1S):c.3532T>G (p.Phe1178Val) rs768999591 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3579C>T (p.Ser1193=) rs746543020 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3609+12G>A rs753525579 0.00001
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.3627C>T (p.Ser1209=) rs200852196 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg) rs776908038 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000069.3(CACNA1S):c.3666+14G>T rs768205078 0.00001
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596 0.00001
NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp) rs769524894 0.00001
NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=) rs1246570435 0.00001
NM_000069.3(CACNA1S):c.3706C>T (p.Arg1236Cys) rs1311389470 0.00001
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956 0.00001
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys) rs750637537 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3786G>A (p.Lys1262=) rs1660728565 0.00001
NM_000069.3(CACNA1S):c.3795+10G>A rs1361377771 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile) rs760441649 0.00001
NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=) rs1024486307 0.00001
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=) rs748525277 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.3953+18C>T rs749628635 0.00001
NM_000069.3(CACNA1S):c.3953+4C>T rs763936268 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000069.3(CACNA1S):c.3992C>T (p.Ala1331Val) rs1207041561 0.00001
NM_000069.3(CACNA1S):c.4017C>T (p.Asp1339=) rs754778841 0.00001
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546 0.00001
NM_000069.3(CACNA1S):c.408C>T (p.Thr136=) rs758816304 0.00001
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084 0.00001
NM_000069.3(CACNA1S):c.4165C>T (p.Arg1389Trp) rs376052781 0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796 0.00001
NM_000069.3(CACNA1S):c.4255C>T (p.His1419Tyr) rs1346780583 0.00001
NM_000069.3(CACNA1S):c.4263C>T (p.Asp1421=) rs368436684 0.00001
NM_000069.3(CACNA1S):c.4317C>T (p.Cys1439=) rs764987846 0.00001
NM_000069.3(CACNA1S):c.4339-15C>T rs771362060 0.00001
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met) rs542998031 0.00001
NM_000069.3(CACNA1S):c.4348G>A (p.Gly1450Ser) rs753557812 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.4385C>A (p.Thr1462Asn) rs1175915781 0.00001
NM_000069.3(CACNA1S):c.4411G>T (p.Val1471Phe) rs1304704158 0.00001
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) rs74642988 0.00001
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4519G>C (p.Asp1507His) rs772376048 0.00001
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337 0.00001
NM_000069.3(CACNA1S):c.4593G>A (p.Glu1531=) rs1221360815 0.00001
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser) rs772750589 0.00001
NM_000069.3(CACNA1S):c.4600C>T (p.Arg1534Trp) rs914458618 0.00001
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln) rs891244994 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4704C>T (p.Pro1568=) rs1451944290 0.00001
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser) rs147007610 0.00001
NM_000069.3(CACNA1S):c.4770G>A (p.Glu1590=) rs756402603 0.00001
NM_000069.3(CACNA1S):c.4775C>T (p.Ala1592Val) rs1037769687 0.00001
NM_000069.3(CACNA1S):c.4789A>G (p.Ile1597Val) rs1660397861 0.00001
NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) rs763695518 0.00001
NM_000069.3(CACNA1S):c.4797+16G>A rs765124358 0.00001
NM_000069.3(CACNA1S):c.4798-12C>T rs764751568 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln) rs777920946 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5058T>C (p.Tyr1686=) rs1463916776 0.00001
NM_000069.3(CACNA1S):c.5135-3C>T rs1311822511 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.5206G>A (p.Ala1736Thr) rs776273589 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000069.3(CACNA1S):c.5256G>A (p.Glu1752=) rs1167317929 0.00001
NM_000069.3(CACNA1S):c.5307C>T (p.Ser1769=) rs767120843 0.00001
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.5340A>G (p.Ser1780=) rs1430395487 0.00001
NM_000069.3(CACNA1S):c.534G>A (p.Gly178=) rs767013417 0.00001
NM_000069.3(CACNA1S):c.5361G>A (p.Leu1787=) rs1364103316 0.00001
NM_000069.3(CACNA1S):c.5370+13C>T rs1275656462 0.00001
NM_000069.3(CACNA1S):c.5370+6C>A rs769074038 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.542-17C>T rs759542761 0.00001
NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr) rs1170882286 0.00001
NM_000069.3(CACNA1S):c.5482A>G (p.Met1828Val) rs1183190556 0.00001
NM_000069.3(CACNA1S):c.5532C>G (p.Ser1844Arg) rs370647481 0.00001
NM_000069.3(CACNA1S):c.5556G>A (p.Gly1852=) rs746057386 0.00001
NM_000069.3(CACNA1S):c.5557T>C (p.Ser1853Pro) rs1660060487 0.00001
NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe) rs1356229958 0.00001
NM_000069.3(CACNA1S):c.5583C>T (p.His1861=) rs764110964 0.00001
NM_000069.3(CACNA1S):c.5613A>G (p.Pro1871=) rs540156963 0.00001
NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly) rs143345409 0.00001
NM_000069.3(CACNA1S):c.564C>T (p.Ser188=) rs769008033 0.00001
NM_000069.3(CACNA1S):c.586C>A (p.Leu196Ile) rs1402361054 0.00001
NM_000069.3(CACNA1S):c.625A>G (p.Ile209Val) rs566565917 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000069.3(CACNA1S):c.681C>T (p.Tyr227=) rs371991382 0.00001
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr) rs778551098 0.00001
NM_000069.3(CACNA1S):c.695-1G>A rs1213421499 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.704C>T (p.Ala235Val) rs1209511803 0.00001
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met) rs766892095 0.00001
NM_000069.3(CACNA1S):c.729G>A (p.Ser243=) rs148593959 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.747C>T (p.Gly249=) rs778890024 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn) rs757755172 0.00001
NM_000069.3(CACNA1S):c.868A>G (p.Thr290Ala) rs749324671 0.00001
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979 0.00001
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe) rs980556708 0.00001
NM_000069.3(CACNA1S):c.900+15del rs556582751 0.00001
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459 0.00001
NM_000069.3(CACNA1S):c.901-19A>G rs778141559 0.00001
NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser) rs765889961 0.00001
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724 0.00001
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) rs1682810737 0.00001
NM_000083.3(CLCN1):c.1062C>T (p.Ile354=) rs1014782276 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1065-5C>T rs369660130 0.00001
NM_000083.3(CLCN1):c.1102C>A (p.Leu368Met) rs1198219818 0.00001
NM_000083.3(CLCN1):c.1107T>C (p.His369=) rs955748180 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg) rs376144544 0.00001
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) rs547603982 0.00001
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro) rs1279658001 0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) rs1360333956 0.00001
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) rs1288398919 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 0.00001
NM_000083.3(CLCN1):c.1308C>T (p.His436=) rs772518279 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244 0.00001
NM_000083.3(CLCN1):c.1401+13A>T rs376582730 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1414A>G (p.Ile472Val) rs767231116 0.00001
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) rs781587827 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1448G>A (p.Gly483Asp) rs1336878695 0.00001
NM_000083.3(CLCN1):c.1459G>A (p.Val487Met) rs749370790 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1471+9T>C rs904183230 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000083.3(CLCN1):c.1533G>A (p.Leu511=) rs373731688 0.00001
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) rs1319653705 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.165C>T (p.Asn55=) rs753251995 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1674C>A (p.Pro558=) rs761240483 0.00001
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala) rs1161052414 0.00001
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) rs376321837 0.00001
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala) rs773422802 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.1931-5C>T rs1192488651 0.00001
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) rs754350357 0.00001
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1977C>A (p.Ala659=) rs904572417 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu) rs769312894 0.00001
NM_000083.3(CLCN1):c.2148C>T (p.Asp716=) rs773044948 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192 0.00001
NM_000083.3(CLCN1):c.2243T>G (p.Leu748Arg) rs768009397 0.00001
NM_000083.3(CLCN1):c.2247T>G (p.Pro749=) rs762200215 0.00001
NM_000083.3(CLCN1):c.2253C>G (p.His751Gln) rs767926364 0.00001
NM_000083.3(CLCN1):c.2274A>G (p.Pro758=) rs753967995 0.00001
NM_000083.3(CLCN1):c.2284+13C>T rs781213675 0.00001
NM_000083.3(CLCN1):c.2284+19G>A rs769666294 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2285-12C>G rs767588787 0.00001
NM_000083.3(CLCN1):c.2339G>A (p.Arg780His) rs529481237 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2390T>C (p.Met797Thr) rs368445765 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 0.00001
NM_000083.3(CLCN1):c.244A>G (p.Thr82Ala) rs772100356 0.00001
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2577C>T (p.Gly859=) rs530181794 0.00001
NM_000083.3(CLCN1):c.2616G>A (p.Gly872=) rs1007992593 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) rs1473430259 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525 0.00001
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) rs139117651 0.00001
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn) rs1803424950 0.00001
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) rs1586483209 0.00001
NM_000083.3(CLCN1):c.302-12A>T rs1802404579 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.411C>T (p.Tyr137=) rs773806167 0.00001
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349 0.00001
NM_000083.3(CLCN1):c.433+13T>C rs765455785 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.453G>A (p.Ala151=) rs147642088 0.00001
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) rs769092535 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) rs555680428 0.00001
NM_000083.3(CLCN1):c.531C>T (p.Leu177=) rs375897422 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.551C>T (p.Pro184Leu) rs1397098562 0.00001
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg) rs1802432204 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr) rs756669568 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 0.00001
NM_000083.3(CLCN1):c.632C>T (p.Ala211Val) rs761511512 0.00001
NM_000083.3(CLCN1):c.662C>T (p.Ala221Val) rs748415883 0.00001
NM_000083.3(CLCN1):c.697-16G>A rs781286294 0.00001
NM_000083.3(CLCN1):c.697-9C>A rs201207110 0.00001
NM_000083.3(CLCN1):c.69G>A (p.Gln23=) rs760729130 0.00001
NM_000083.3(CLCN1):c.719G>A (p.Ser240Asn) rs758767069 0.00001
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.789del (p.Ser264fs) rs770081373 0.00001
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) rs1475869303 0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) rs921162119 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.854-2A>G rs1802699135 0.00001
NM_000083.3(CLCN1):c.861A>G (p.Leu287=) rs771454498 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala) rs756977743 0.00001
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000083.3(CLCN1):c.975T>C (p.Asp325=) rs1243380901 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1172C>A (p.Thr391Asn) rs1321029357 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.1243-5C>A rs374257387 0.00001
NM_000334.4(SCN4A):c.1249C>T (p.Arg417Ter) rs943370469 0.00001
NM_000334.4(SCN4A):c.1275C>A (p.Ile425=) rs1392358857 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.1478G>A (p.Gly493Asp) rs760478847 0.00001
NM_000334.4(SCN4A):c.147G>C (p.Glu49Asp) rs781147290 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.1527C>T (p.Ser509=) rs577453030 0.00001
NM_000334.4(SCN4A):c.1559C>T (p.Pro520Leu) rs753391449 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.1596C>T (p.Asp532=) rs911873120 0.00001
NM_000334.4(SCN4A):c.1597G>A (p.Ala533Thr) rs776005101 0.00001
NM_000334.4(SCN4A):c.1598C>T (p.Ala533Val) rs1249706169 0.00001
NM_000334.4(SCN4A):c.1606+8C>A rs575279008 0.00001
NM_000334.4(SCN4A):c.1607-9C>G rs1388937963 0.00001
NM_000334.4(SCN4A):c.1629G>T (p.Lys543Asn) rs1197528149 0.00001
NM_000334.4(SCN4A):c.1647C>T (p.Tyr549=) rs368996214 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1845+4G>A rs1909240035 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.1895T>C (p.Met632Thr) rs1307476014 0.00001
NM_000334.4(SCN4A):c.1905C>T (p.Tyr635=) rs774304336 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.1975C>T (p.Leu659=) rs764575691 0.00001
NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys) rs897448432 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2010C>T (p.Ser670=) rs763017199 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.2045C>G (p.Ser682Trp) rs751368967 0.00001
NM_000334.4(SCN4A):c.2055G>A (p.Thr685=) rs766227475 0.00001
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743 0.00001
NM_000334.4(SCN4A):c.2097G>A (p.Ala699=) rs765222494 0.00001
NM_000334.4(SCN4A):c.2099T>A (p.Leu700Gln) rs1909105453 0.00001
NM_000334.4(SCN4A):c.2145C>T (p.Ala715=) rs1909103840 0.00001
NM_000334.4(SCN4A):c.216G>A (p.Pro72=) rs768591136 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2208C>T (p.Asp736=) rs751675273 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2223C>T (p.Arg741=) rs1041781133 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.2267G>A (p.Arg756His) rs1343607212 0.00001
NM_000334.4(SCN4A):c.2274G>C (p.Leu758=) rs368537002 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.2290G>A (p.Glu764Lys) rs1403270355 0.00001
NM_000334.4(SCN4A):c.2320G>A (p.Gly774Ser) rs761212631 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2346C>A (p.Phe782Leu) rs745492332 0.00001
NM_000334.4(SCN4A):c.2362A>G (p.Ile788Val) rs748811517 0.00001
NM_000334.4(SCN4A):c.2364C>T (p.Ile788=) rs768158707 0.00001
NM_000334.4(SCN4A):c.2386C>T (p.Leu796=) rs750053946 0.00001
NM_000334.4(SCN4A):c.240G>A (p.Leu80=) rs760094343 0.00001
NM_000334.4(SCN4A):c.2586C>T (p.Asp862=) rs756161095 0.00001
NM_000334.4(SCN4A):c.2587G>A (p.Gly863Arg) rs752706137 0.00001
NM_000334.4(SCN4A):c.2609C>T (p.Ala870Val) rs764806517 0.00001
NM_000334.4(SCN4A):c.2625C>T (p.Pro875=) rs533858326 0.00001
NM_000334.4(SCN4A):c.2628G>A (p.Glu876=) rs368479778 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.2713T>A (p.Ser905Thr) rs779100982 0.00001
NM_000334.4(SCN4A):c.2715C>T (p.Ser905=) rs1597973581 0.00001
NM_000334.4(SCN4A):c.273+19T>G rs756421900 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2760G>A (p.Leu920=) rs762808534 0.00001
NM_000334.4(SCN4A):c.2779G>A (p.Ala927Thr) rs1439097461 0.00001
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val) rs757508857 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2826C>T (p.Asp942=) rs1183710096 0.00001
NM_000334.4(SCN4A):c.282C>T (p.Ile94=) rs563602704 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.291C>T (p.Asn97=) rs770919076 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2961G>T (p.Gly987=) rs1447182115 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3033G>C (p.Gln1011His) rs369874235 0.00001
NM_000334.4(SCN4A):c.3038G>A (p.Arg1013His) rs578232775 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3099C>T (p.Phe1033=) rs753862870 0.00001
NM_000334.4(SCN4A):c.3129C>T (p.Leu1043=) rs747471262 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3204C>T (p.Ala1068=) rs780229549 0.00001
NM_000334.4(SCN4A):c.3228C>T (p.Phe1076=) rs939978015 0.00001
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val) rs201152347 0.00001
NM_000334.4(SCN4A):c.3248A>G (p.Lys1083Arg) rs774069214 0.00001
NM_000334.4(SCN4A):c.3261C>T (p.Tyr1087=) rs534552884 0.00001
NM_000334.4(SCN4A):c.3318+14C>T rs199864927 0.00001
NM_000334.4(SCN4A):c.3336G>T (p.Leu1112Phe) rs764409572 0.00001
NM_000334.4(SCN4A):c.3358T>C (p.Ser1120Pro) rs1391865078 0.00001
NM_000334.4(SCN4A):c.337C>T (p.Leu113=) rs553234696 0.00001
NM_000334.4(SCN4A):c.3390A>G (p.Thr1130=) rs774845449 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3443T>C (p.Val1148Ala) rs1908692504 0.00001
NM_000334.4(SCN4A):c.3453C>T (p.Asn1151=) rs768187283 0.00001
NM_000334.4(SCN4A):c.345C>T (p.Ser115=) rs1909641231 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3618G>A (p.Lys1206=) rs757658622 0.00001
NM_000334.4(SCN4A):c.3639G>A (p.Met1213Ile) rs1267107348 0.00001
NM_000334.4(SCN4A):c.3642C>T (p.His1214=) rs577108088 0.00001
NM_000334.4(SCN4A):c.3678C>T (p.Asn1226=) rs1218404418 0.00001
NM_000334.4(SCN4A):c.3720+20C>A rs1187897404 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.3749T>C (p.Met1250Thr) rs1488191937 0.00001
NM_000334.4(SCN4A):c.3760G>A (p.Val1254Met) rs763136642 0.00001
NM_000334.4(SCN4A):c.3774+9G>A rs370756492 0.00001
NM_000334.4(SCN4A):c.3775-12T>C rs1191297022 0.00001
NM_000334.4(SCN4A):c.3775-5C>T rs777201502 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.3858C>T (p.Thr1286=) rs538933926 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln) rs1555601285 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.393-4C>A rs958817327 0.00001
NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile) rs1567817375 0.00001
NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=) rs747602881 0.00001
NM_000334.4(SCN4A):c.4009C>T (p.Arg1337Trp) rs779717594 0.00001
NM_000334.4(SCN4A):c.4017+8C>T rs201269475 0.00001
NM_000334.4(SCN4A):c.4053G>A (p.Thr1351=) rs376395544 0.00001
NM_000334.4(SCN4A):c.4066G>A (p.Asp1356Asn) rs772704244 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4106C>A (p.Thr1369Asn) rs748313755 0.00001
NM_000334.4(SCN4A):c.4168A>T (p.Met1390Leu) rs754311975 0.00001
NM_000334.4(SCN4A):c.4180A>G (p.Ile1394Val) rs981021623 0.00001
NM_000334.4(SCN4A):c.4200C>T (p.Cys1400=) rs760454638 0.00001
NM_000334.4(SCN4A):c.4208A>G (p.Lys1403Arg) rs1480233641 0.00001
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=) rs770836153 0.00001
NM_000334.4(SCN4A):c.4239C>T (p.Thr1413=) rs779956632 0.00001
NM_000334.4(SCN4A):c.4266G>A (p.Val1422=) rs1908587559 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4269C>T (p.Val1423=) rs757880810 0.00001
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960 0.00001
NM_000334.4(SCN4A):c.4288+15C>A rs1006841428 0.00001
NM_000334.4(SCN4A):c.4289-5C>T rs1396119458 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His) rs771340029 0.00001
NM_000334.4(SCN4A):c.4389C>T (p.Arg1463=) rs763124097 0.00001
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4398G>A (p.Lys1466=) rs1384075799 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.4497C>T (p.Phe1499=) rs572237501 0.00001
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile) rs1467904959 0.00001
NM_000334.4(SCN4A):c.4567G>A (p.Gly1523Ser) rs549771520 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4590C>T (p.Phe1530=) rs199824534 0.00001
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met) rs939785324 0.00001
NM_000334.4(SCN4A):c.4608C>T (p.Ala1536=) rs764476134 0.00001
NM_000334.4(SCN4A):c.4617C>T (p.Asp1539=) rs772431686 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4639A>C (p.Asn1547His) rs748718886 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4670T>C (p.Leu1557Pro) rs1237471647 0.00001
NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu) rs753838641 0.00001
NM_000334.4(SCN4A):c.4699G>A (p.Asp1567Asn) rs768071512 0.00001
NM_000334.4(SCN4A):c.4706G>T (p.Gly1569Val) rs373017435 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4742A>G (p.Tyr1581Cys) rs912147252 0.00001
NM_000334.4(SCN4A):c.4782C>T (p.Ile1594=) rs190975011 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4804A>C (p.Asn1602His) rs1189124411 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4827C>T (p.Ser1609=) rs376689238 0.00001
NM_000334.4(SCN4A):c.483-20G>A rs771069029 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn) rs1004398583 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.4890C>T (p.Asp1630=) rs781276397 0.00001
NM_000334.4(SCN4A):c.48C>T (p.Cys16=) rs765207978 0.00001
NM_000334.4(SCN4A):c.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=) rs375995481 0.00001
NM_000334.4(SCN4A):c.4971C>T (p.Asn1657=) rs1307196671 0.00001
NM_000334.4(SCN4A):c.4983C>T (p.Leu1661=) rs1908520604 0.00001
NM_000334.4(SCN4A):c.4995C>T (p.Asp1665=) rs750776495 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5023C>T (p.His1675Tyr) rs767464961 0.00001
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5216G>A (p.Arg1739His) rs1388841552 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5306A>C (p.Glu1769Ala) rs768251194 0.00001
NM_000334.4(SCN4A):c.5310G>T (p.Gly1770=) rs1349039203 0.00001
NM_000334.4(SCN4A):c.5346C>T (p.His1782=) rs1567815713 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.5352T>C (p.Asn1784=) rs374079457 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5376G>A (p.Pro1792=) rs765644422 0.00001
NM_000334.4(SCN4A):c.5389G>A (p.Glu1797Lys) rs1398520652 0.00001
NM_000334.4(SCN4A):c.5394A>G (p.Ala1798=) rs916993526 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr) rs963907287 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.54C>T (p.Arg18=) rs775998468 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.554A>C (p.Asp185Ala) rs1597987427 0.00001
NM_000334.4(SCN4A):c.584G>A (p.Trp195Ter) rs1331907655 0.00001
NM_000334.4(SCN4A):c.611+19A>G rs771766927 0.00001
NM_000334.4(SCN4A):c.612-17C>T rs1445520678 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln) rs865887222 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000334.4(SCN4A):c.674G>A (p.Arg225Gln) rs547866546 0.00001
NM_000334.4(SCN4A):c.67G>A (p.Glu23Lys) rs756692670 0.00001
NM_000334.4(SCN4A):c.703+18G>A rs561981114 0.00001
NM_000334.4(SCN4A):c.703+6G>A rs748828476 0.00001
NM_000334.4(SCN4A):c.704-10C>T rs1909520562 0.00001
NM_000334.4(SCN4A):c.707T>C (p.Leu236Pro) rs1909519703 0.00001
NM_000334.4(SCN4A):c.718G>A (p.Val240Met) rs746216167 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.786C>T (p.Ser262=) rs746749167 0.00001
NM_000334.4(SCN4A):c.810G>A (p.Gln270=) rs755446880 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.904G>A (p.Gly302Ser) rs756852107 0.00001
NM_000334.4(SCN4A):c.918G>A (p.Trp306Ter) rs759347899 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn) rs1476737505 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=) rs767166881 0.00001
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=) rs753839703 0.00001
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser) rs1279418065 0.00001
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr) rs752406680 0.00001
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=) rs763917912 0.00001
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln) rs745372216 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=) rs997406384 0.00001
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln) rs764311511 0.00001
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser) rs1484750176 0.00001
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=) rs1434901464 0.00001
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=) rs1053161336 0.00001
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) rs529080615 0.00001
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=) rs550697411 0.00001
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=) rs1166497262 0.00001
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=) rs556248547 0.00001
NM_000891.3(KCNJ2):c.279C>T (p.Val93=) rs767566718 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=) rs1402832714 0.00001
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met) rs151168735 0.00001
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=) rs745672560 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=) rs773185250 0.00001
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=) rs751862699 0.00001
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=) rs759879267 0.00001
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val) rs767934529 0.00001
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser) rs1236228202 0.00001
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=) rs142049682 0.00001
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met) rs140147979 0.00001
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr) rs771965504 0.00001
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=) rs773272852 0.00001
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup) rs2074383942 0.00001
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr) rs759793133 0.00001
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=) rs201850260 0.00001
NM_000891.3(KCNJ2):c.678T>C (p.His226=) rs559935671 0.00001
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=) rs1276042254 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=) rs886039094 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=) rs1217136489 0.00001
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val) rs774461588 0.00001
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=) rs2074384649 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu) rs758054840 0.00001
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr) rs895505794 0.00001
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=) rs1027878057 0.00001
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met) rs2074389817 0.00001
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=) rs1441547463 0.00001
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=) rs2074390355 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=) rs905657549 0.00001
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=) rs769513425 0.00001
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=) rs1598210962 0.00001
NC_000001.10:g.(?_200522516)_(208391267_?)dup
NC_000001.10:g.(?_201008959)_(201013604_?)dup
NC_000001.10:g.(?_201012389)_(201013604_?)del
NC_000001.10:g.(?_201013436)_(201013604_?)del
NC_000001.10:g.(?_201041873)_(201045757_?)del
NC_000001.10:g.(?_201063001)_(201066352_?)del
NC_000001.10:g.(?_201079272)_(201081467_?)del
NC_000001.11:g.201044429_201044459del
NC_000007.13:g.(?_143013209)_(143049107_?)del
NC_000007.13:g.(?_143013306)_(143013505_?)del
NC_000007.13:g.(?_143013306)_(143049058_?)dup
NC_000007.13:g.(?_143013350)_(143018251_?)del
NC_000007.13:g.(?_143013355)_(143018256_?)del
NC_000007.13:g.(?_143027845)_(143028765_?)del
NC_000007.13:g.(?_143029321)_(143029798_?)del
NC_000007.13:g.(?_143039002)_(143044062_?)del
NC_000007.13:g.(?_143042594)_(143044062_?)del
NC_000007.13:g.(?_143047445)_(143049058_?)del
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NC_000007.14:g.(?_143324401)_(143331662_?)del
NC_000007.14:g.(?_143345501)_(143350674_?)del
NC_000007.14:g.143323310del rs1423567292
NC_000017.10:g.(?_62006586)_(62050201_?)dup
NC_000017.10:g.(?_62018111)_(62987152_?)dup
NC_000017.10:g.(?_62024385)_(62034898_?)del
NC_000017.10:g.(?_62034502)_(62034898_?)del
NC_000017.10:g.(?_62048502)_(62050201_?)dup
NC_000017.10:g.(?_68166871)_(68171602_?)del
NC_000017.10:g.(?_68171181)_(68172464_?)del
NC_000017.10:g.(?_68171181)_(68172464_?)dup
NM_000069.3(CACNA1S):c.1005-12A>G
NM_000069.3(CACNA1S):c.1005-19C>G rs749844659
NM_000069.3(CACNA1S):c.1005-1G>A
NM_000069.3(CACNA1S):c.1005-5T>C
NM_000069.3(CACNA1S):c.100C>G (p.Leu34Val)
NM_000069.3(CACNA1S):c.100C>T (p.Leu34=)
NM_000069.3(CACNA1S):c.1021C>G (p.Arg341Gly)
NM_000069.3(CACNA1S):c.1021C>T (p.Arg341Trp)
NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln)
NM_000069.3(CACNA1S):c.1035G>A (p.Lys345=)
NM_000069.3(CACNA1S):c.1038C>A (p.Ser346=)
NM_000069.3(CACNA1S):c.103A>C (p.Thr35Pro)
NM_000069.3(CACNA1S):c.103A>G (p.Thr35Ala) rs1663150760
NM_000069.3(CACNA1S):c.1046C>G (p.Thr349Ser)
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1053G>A (p.Gln351=)
NM_000069.3(CACNA1S):c.1062G>A (p.Arg354=) rs2102154929
NM_000069.3(CACNA1S):c.1080T>C (p.Asp360=)
NM_000069.3(CACNA1S):c.1084G>A (p.Asp362Asn)
NM_000069.3(CACNA1S):c.1087C>T (p.Leu363Phe)
NM_000069.3(CACNA1S):c.1087del (p.Leu363fs) rs2102154885
NM_000069.3(CACNA1S):c.108G>A (p.Leu36=)
NM_000069.3(CACNA1S):c.108G>C (p.Leu36=) rs1572080659
NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp)
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) rs763965450
NM_000069.3(CACNA1S):c.1093G>A (p.Gly365Ser) rs1662009066
NM_000069.3(CACNA1S):c.1101G>A (p.Met367Ile) rs1438961156
NM_000069.3(CACNA1S):c.1106G>T (p.Trp369Leu) rs1558076931
NM_000069.3(CACNA1S):c.1110C>T (p.Ile370=)
NM_000069.3(CACNA1S):c.1119C>A (p.Gly373=) rs777414745
NM_000069.3(CACNA1S):c.1119C>T (p.Gly373=)
NM_000069.3(CACNA1S):c.111G>A (p.Glu37=)
NM_000069.3(CACNA1S):c.1122G>T (p.Glu374Asp)
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.112A>T (p.Asn38Tyr)
NM_000069.3(CACNA1S):c.1149A>G (p.Glu383=) rs544185379
NM_000069.3(CACNA1S):c.1150+15G>C
NM_000069.3(CACNA1S):c.1150+3T>C rs770379814
NM_000069.3(CACNA1S):c.1150+6G>T
NM_000069.3(CACNA1S):c.1150+9C>T rs2102154694
NM_000069.3(CACNA1S):c.1151-11C>T rs1466916514
NM_000069.3(CACNA1S):c.1151-13C>A rs200273802
NM_000069.3(CACNA1S):c.1151-13C>G
NM_000069.3(CACNA1S):c.1151-13C>T
NM_000069.3(CACNA1S):c.1158G>A (p.Leu386=)
NM_000069.3(CACNA1S):c.1160C>G (p.Ser387Cys)
NM_000069.3(CACNA1S):c.116C>T (p.Pro39Leu) rs1663146674
NM_000069.3(CACNA1S):c.1171G>A (p.Gly391Ser) rs1661979627
NM_000069.3(CACNA1S):c.1188G>C (p.Glu396Asp)
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
NM_000069.3(CACNA1S):c.1206A>G (p.Ala402=) rs1572056464
NM_000069.3(CACNA1S):c.1214A>G (p.Asn405Ser)
NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn)
NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)
NM_000069.3(CACNA1S):c.1232+11G>T
NM_000069.3(CACNA1S):c.1232+13C>T
NM_000069.3(CACNA1S):c.1232+18G>C
NM_000069.3(CACNA1S):c.1232+20C>T
NM_000069.3(CACNA1S):c.1233-18C>T
NM_000069.3(CACNA1S):c.1233-20T>G
NM_000069.3(CACNA1S):c.1233-4T>A rs756624763
NM_000069.3(CACNA1S):c.1233-5C>T
NM_000069.3(CACNA1S):c.1233-6C>T rs2102151894
NM_000069.3(CACNA1S):c.1235G>A (p.Arg412Gln)
NM_000069.3(CACNA1S):c.1239T>C (p.His413=) rs762629952
NM_000069.3(CACNA1S):c.1240T>C (p.Trp414Arg)
NM_000069.3(CACNA1S):c.1244G>C (p.Arg415Thr)
NM_000069.3(CACNA1S):c.1247A>G (p.Gln416Arg)
NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)
NM_000069.3(CACNA1S):c.1250G>C (p.Trp417Ser)
NM_000069.3(CACNA1S):c.1255C>T (p.Arg419Cys)
NM_000069.3(CACNA1S):c.1264C>T (p.Arg422Cys)
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)
NM_000069.3(CACNA1S):c.126G>A (p.Lys42=)
NM_000069.3(CACNA1S):c.1271del (p.Lys424fs)
NM_000069.3(CACNA1S):c.1274del (p.Cys425fs) rs2102151799
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1278T>A (p.His426Gln)
NM_000069.3(CACNA1S):c.1280A>G (p.Asp427Gly)
NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val) rs756504992
NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe)
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) rs750807406
NM_000069.3(CACNA1S):c.1285G>T (p.Val429Leu)
NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu)
NM_000069.3(CACNA1S):c.1298TCT[1] (p.Phe434del)
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=) rs1448450110
NM_000069.3(CACNA1S):c.1322T>C (p.Ile441Thr) rs749522764
NM_000069.3(CACNA1S):c.1330C>T (p.Leu444Phe) rs138735817
NM_000069.3(CACNA1S):c.1339C>G (p.Leu447Val)
NM_000069.3(CACNA1S):c.133A>G (p.Ile45Val)
NM_000069.3(CACNA1S):c.1347C>A (p.Ile449=) rs754689047
NM_000069.3(CACNA1S):c.1350C>T (p.Ala450=) rs1558075481
NM_000069.3(CACNA1S):c.1356G>T (p.Glu452Asp)
NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter)
NM_000069.3(CACNA1S):c.136A>C (p.Ser46Arg)
NM_000069.3(CACNA1S):c.136A>G (p.Ser46Gly)
NM_000069.3(CACNA1S):c.1371T>A (p.Pro457=) rs12742170
NM_000069.3(CACNA1S):c.1374C>A (p.Leu458=)
NM_000069.3(CACNA1S):c.1377G>A (p.Trp459Ter)
NM_000069.3(CACNA1S):c.1380G>C (p.Leu460=)
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1393+11A>G rs753604199
NM_000069.3(CACNA1S):c.1393+12C>T
NM_000069.3(CACNA1S):c.1393+9G>A
NM_000069.3(CACNA1S):c.1394-18G>A
NM_000069.3(CACNA1S):c.1394-4A>G
NM_000069.3(CACNA1S):c.1394-8C>A rs375250339
NM_000069.3(CACNA1S):c.1394-8C>T rs375250339
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1403A>G (p.Asn468Ser)
NM_000069.3(CACNA1S):c.1406G>T (p.Arg469Leu)
NM_000069.3(CACNA1S):c.1407G>T (p.Arg469=)
NM_000069.3(CACNA1S):c.140T>C (p.Ile47Thr) rs372497364
NM_000069.3(CACNA1S):c.1410G>A (p.Val470=) rs1661698305
NM_000069.3(CACNA1S):c.1410G>C (p.Val470=)
NM_000069.3(CACNA1S):c.1411C>T (p.Leu471=) rs146389514
NM_000069.3(CACNA1S):c.1413G>C (p.Leu471=)
NM_000069.3(CACNA1S):c.1416G>A (p.Leu472=)
NM_000069.3(CACNA1S):c.1419C>T (p.Ser473=)
NM_000069.3(CACNA1S):c.1422C>T (p.Leu474=) rs2102144398
NM_000069.3(CACNA1S):c.1430C>A (p.Thr477Asn)
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.1439T>A (p.Leu480Gln) rs2102144367
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
NM_000069.3(CACNA1S):c.1440G>A (p.Leu480=)
NM_000069.3(CACNA1S):c.1446G>A (p.Lys482=) rs1558072779
NM_000069.3(CACNA1S):c.1453G>A (p.Gly485Arg)
NM_000069.3(CACNA1S):c.1455G>T (p.Gly485=)
NM_000069.3(CACNA1S):c.1459G>A (p.Gly487Ser)
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) rs1411108885
NM_000069.3(CACNA1S):c.1481C>T (p.Ser494Phe)
NM_000069.3(CACNA1S):c.148T>C (p.Trp50Arg)
NM_000069.3(CACNA1S):c.1492C>A (p.Arg498Ser)
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1499A>G (p.Asp500Gly) rs1661693985
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.1500C>T (p.Asp500=)
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) rs762294904
NM_000069.3(CACNA1S):c.1508T>C (p.Val503Ala) rs763510310
NM_000069.3(CACNA1S):c.1509G>C (p.Val503=)
NM_000069.3(CACNA1S):c.150G>C (p.Trp50Cys)
NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly)
NM_000069.3(CACNA1S):c.152+14C>T rs201285556
NM_000069.3(CACNA1S):c.152+16C>T
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.152+7T>C
NM_000069.3(CACNA1S):c.153-18C>T
NM_000069.3(CACNA1S):c.153-20C>T
NM_000069.3(CACNA1S):c.153-8G>A rs1663050022
NM_000069.3(CACNA1S):c.1536G>T (p.Leu512=) rs1490665418
NM_000069.3(CACNA1S):c.153G>A (p.Lys51=)
NM_000069.3(CACNA1S):c.1542G>A (p.Val514=)
NM_000069.3(CACNA1S):c.1547C>G (p.Ser516Trp) rs140662085
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1550G>A (p.Gly517Asp) rs2102144073
NM_000069.3(CACNA1S):c.1551_1552inv (p.Ala518Thr)
NM_000069.3(CACNA1S):c.1562C>T (p.Pro521Leu) rs1253021609
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1564C>G (p.Leu522Val) rs4915476
NM_000069.3(CACNA1S):c.1567G>A (p.Gly523Ser)
NM_000069.3(CACNA1S):c.1575C>G (p.Ser525=) rs771788360
NM_000069.3(CACNA1S):c.1575C>T (p.Ser525=) rs771788360
NM_000069.3(CACNA1S):c.157T>C (p.Phe53Leu) rs754668127
NM_000069.3(CACNA1S):c.1585T>C (p.Cys529Arg)
NM_000069.3(CACNA1S):c.1586G>T (p.Cys529Phe) rs745998610
NM_000069.3(CACNA1S):c.1596C>T (p.Leu532=)
NM_000069.3(CACNA1S):c.159C>T (p.Phe53=) rs199720439
NM_000069.3(CACNA1S):c.1602G>A (p.Arg534=)
NM_000069.3(CACNA1S):c.1606T>C (p.Phe536Leu)
NM_000069.3(CACNA1S):c.1607T>C (p.Phe536Ser)
NM_000069.3(CACNA1S):c.160G>A (p.Glu54Lys)
NM_000069.3(CACNA1S):c.160G>C (p.Glu54Gln) rs1553254121
NM_000069.3(CACNA1S):c.1612A>C (p.Ile538Leu)
NM_000069.3(CACNA1S):c.1614C>T (p.Ile538=) rs2102143850
NM_000069.3(CACNA1S):c.1619+10G>T rs374195664
NM_000069.3(CACNA1S):c.1619+11G>A
NM_000069.3(CACNA1S):c.1619+12G>T
NM_000069.3(CACNA1S):c.1619+15C>A rs771698501
NM_000069.3(CACNA1S):c.1619+9C>G rs372942667
NM_000069.3(CACNA1S):c.1620-12C>A
NM_000069.3(CACNA1S):c.1620-12C>T
NM_000069.3(CACNA1S):c.1620-15C>T
NM_000069.3(CACNA1S):c.1620-17G>A
NM_000069.3(CACNA1S):c.1620-4T>G rs2102142727
NM_000069.3(CACNA1S):c.1623T>C (p.Tyr541=)
NM_000069.3(CACNA1S):c.1624T>A (p.Trp542Arg) rs2102142703
NM_000069.3(CACNA1S):c.1629G>A (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) rs569061608
NM_000069.3(CACNA1S):c.1642C>G (p.Leu548Val) rs940478189
NM_000069.3(CACNA1S):c.1642C>T (p.Leu548=) rs940478189
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.165G>C (p.Thr55=) rs150520884
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1684C>T (p.Leu562=)
NM_000069.3(CACNA1S):c.1698C>T (p.Leu566=)
NM_000069.3(CACNA1S):c.169A>G (p.Ile57Val) rs1663048287
NM_000069.3(CACNA1S):c.1704C>G (p.Leu568=)
NM_000069.3(CACNA1S):c.1710C>T (p.Ile570=)
NM_000069.3(CACNA1S):c.1713C>T (p.Val571=)
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1721C>T (p.Ala574Val) rs1004513123
NM_000069.3(CACNA1S):c.1724T>C (p.Leu575Pro)
NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)
NM_000069.3(CACNA1S):c.1731C>G (p.Gly577=)
NM_000069.3(CACNA1S):c.1732A>G (p.Met578Val)
NM_000069.3(CACNA1S):c.1742T>C (p.Phe581Ser)
NM_000069.3(CACNA1S):c.1744G>C (p.Gly582Arg) rs1365145775
NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)
NM_000069.3(CACNA1S):c.1745G>A (p.Gly582Glu)
NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=)
NM_000069.3(CACNA1S):c.1749G>C (p.Gly583=)
NM_000069.3(CACNA1S):c.1750A>C (p.Arg584=) rs2102142393
NM_000069.3(CACNA1S):c.1752G>A (p.Arg584=)
NM_000069.3(CACNA1S):c.1758C>A (p.Asp586Glu)
NM_000069.3(CACNA1S):c.1768A>G (p.Thr590Ala) rs1661646302
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=) rs138541733
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1779G>A (p.Arg593=)
NM_000069.3(CACNA1S):c.177C>T (p.Leu59=)
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) rs762032797
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1792_1794del (p.Asp598del) rs1572049360
NM_000069.3(CACNA1S):c.1793A>G (p.Asp598Gly) rs749475822
NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) rs1558071742
NM_000069.3(CACNA1S):c.180C>T (p.Thr60=)
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1813A>T (p.Ile605Phe) rs550246898
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)
NM_000069.3(CACNA1S):c.1827+10C>T
NM_000069.3(CACNA1S):c.1827+11C>T
NM_000069.3(CACNA1S):c.1827+16G>A
NM_000069.3(CACNA1S):c.1827+8C>T
NM_000069.3(CACNA1S):c.1828-14C>T
NM_000069.3(CACNA1S):c.1828-16_1828-4del rs1661585121
NM_000069.3(CACNA1S):c.1828-18T>C
NM_000069.3(CACNA1S):c.1828-3C>A
NM_000069.3(CACNA1S):c.1829T>C (p.Val610Ala)
NM_000069.3(CACNA1S):c.1830A>G (p.Val610=) rs1479771505
NM_000069.3(CACNA1S):c.1839G>A (p.Gly613=)
NM_000069.3(CACNA1S):c.183C>A (p.Ile61=)
NM_000069.3(CACNA1S):c.1840del (p.Glu614fs)
NM_000069.3(CACNA1S):c.1842A>C (p.Glu614Asp)
NM_000069.3(CACNA1S):c.1846T>C (p.Trp616Arg)
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1866T>C (p.Asn622=) rs1572048185
NM_000069.3(CACNA1S):c.1873A>G (p.Met625Val)
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1887G>T (p.Gly629=)
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
NM_000069.3(CACNA1S):c.1896C>T (p.Tyr632=)
NM_000069.3(CACNA1S):c.1898C>G (p.Pro633Arg)
NM_000069.3(CACNA1S):c.1902C>T (p.Gly634=)
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.1905G>A (p.Met635Ile) rs754126882
NM_000069.3(CACNA1S):c.1920C>T (p.Tyr640=)
NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met) rs1294275087
NM_000069.3(CACNA1S):c.1928T>C (p.Ile643Thr)
NM_000069.3(CACNA1S):c.1936G>T (p.Val646Phe)
NM_000069.3(CACNA1S):c.1939T>C (p.Cys647Arg) rs1160159381
NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=)
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.1948+15G>A
NM_000069.3(CACNA1S):c.1948+17A>T
NM_000069.3(CACNA1S):c.1948+2T>C
NM_000069.3(CACNA1S):c.1949-5C>T
NM_000069.3(CACNA1S):c.1949-6G>C
NM_000069.3(CACNA1S):c.1949-8C>T
NM_000069.3(CACNA1S):c.1949-8_1986del
NM_000069.3(CACNA1S):c.1951A>G (p.Ile651Val)
NM_000069.3(CACNA1S):c.1953C>A (p.Ile651=)
NM_000069.3(CACNA1S):c.1953C>T (p.Ile651=)
NM_000069.3(CACNA1S):c.1959C>T (p.Leu653=) rs1414491241
NM_000069.3(CACNA1S):c.197T>C (p.Val66Ala) rs1663046954
NM_000069.3(CACNA1S):c.1980C>T (p.Ala660=)
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1983G>A (p.Val661=)
NM_000069.3(CACNA1S):c.1984G>A (p.Asp662Asn)
NM_000069.3(CACNA1S):c.1989C>A (p.Asn663Lys)
NM_000069.3(CACNA1S):c.1995C>G (p.Ala665=)
NM_000069.3(CACNA1S):c.1998G>A (p.Glu666=)
NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) rs374950276
NM_000069.3(CACNA1S):c.2004G>C (p.Glu668Asp)
NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val) rs1553254116
NM_000069.3(CACNA1S):c.2022G>C (p.Gln674His) rs2102138491
NM_000069.3(CACNA1S):c.2028C>A (p.Ala676=) rs2102138464
NM_000069.3(CACNA1S):c.2034T>A (p.Ala678=)
NM_000069.3(CACNA1S):c.2046A>G (p.Lys682=) rs2102138419
NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser) rs35708442
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2057T>C (p.Met686Thr) rs1661536110
NM_000069.3(CACNA1S):c.2063+10del rs2102138348
NM_000069.3(CACNA1S):c.2063+12C>A
NM_000069.3(CACNA1S):c.2063+13T>C
NM_000069.3(CACNA1S):c.2063+19G>A rs1200890823
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.2063+20G>A
NM_000069.3(CACNA1S):c.2063+4A>C
NM_000069.3(CACNA1S):c.2063+4A>T
NM_000069.3(CACNA1S):c.2064-15G>A
NM_000069.3(CACNA1S):c.2064-26_2064-15del
NM_000069.3(CACNA1S):c.2064-5C>T
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)
NM_000069.3(CACNA1S):c.2067T>G (p.Gly689=) rs1250186184
NM_000069.3(CACNA1S):c.206C>A (p.Ala69Asp) rs12406479
NM_000069.3(CACNA1S):c.206C>T (p.Ala69Val) rs12406479
NM_000069.3(CACNA1S):c.2079G>A (p.Lys693=)
NM_000069.3(CACNA1S):c.2080T>C (p.Ser694Pro)
NM_000069.3(CACNA1S):c.2086GAG[1] (p.Glu697del) rs1225367412
NM_000069.3(CACNA1S):c.2089G>A (p.Glu697Lys) rs750141331
NM_000069.3(CACNA1S):c.2090A>T (p.Glu697Val) rs2102137126
NM_000069.3(CACNA1S):c.2100G>C (p.Thr700=) rs774160640
NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2105C>T (p.Ala702Val) rs1661497048
NM_000069.3(CACNA1S):c.2157+11C>T
NM_000069.3(CACNA1S):c.2157+20A>T
NM_000069.3(CACNA1S):c.2157+3G>A rs2102136981
NM_000069.3(CACNA1S):c.2158-16del
NM_000069.3(CACNA1S):c.2158-2A>G rs2102135936
NM_000069.3(CACNA1S):c.2158-7C>T
NM_000069.3(CACNA1S):c.2161A>C (p.Lys721Gln)
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
NM_000069.3(CACNA1S):c.216G>C (p.Leu72=) rs754538534
NM_000069.3(CACNA1S):c.2170G>A (p.Glu724Lys)
NM_000069.3(CACNA1S):c.2182A>G (p.Asn728Asp) rs1391820892
NM_000069.3(CACNA1S):c.2195T>A (p.Val732Glu) rs2102135884
NM_000069.3(CACNA1S):c.2201A>T (p.Asp734Val) rs1661470332
NM_000069.3(CACNA1S):c.2214A>C (p.Ser738=)
NM_000069.3(CACNA1S):c.2222T>C (p.Phe741Ser)
NM_000069.3(CACNA1S):c.2223C>T (p.Phe741=)
NM_000069.3(CACNA1S):c.2227+10C>T rs2102135793
NM_000069.3(CACNA1S):c.2227+11T>C
NM_000069.3(CACNA1S):c.2227+3G>A
NM_000069.3(CACNA1S):c.2228-10C>T
NM_000069.3(CACNA1S):c.2228-13del
NM_000069.3(CACNA1S):c.2228-14C>G
NM_000069.3(CACNA1S):c.2228-14C>T
NM_000069.3(CACNA1S):c.2228-16C>G
NM_000069.3(CACNA1S):c.2228-17TC[6]
NM_000069.3(CACNA1S):c.2228-18C>G
NM_000069.3(CACNA1S):c.2228-1G>A
NM_000069.3(CACNA1S):c.2228-4A>G rs1572043441
NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu)
NM_000069.3(CACNA1S):c.2259G>C (p.Pro753=) rs200971359
NM_000069.3(CACNA1S):c.2262G>A (p.Leu754=) rs1572043391
NM_000069.3(CACNA1S):c.2264G>T (p.Ser755Ile)
NM_000069.3(CACNA1S):c.2265C>T (p.Ser755=)
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473
NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His)
NM_000069.3(CACNA1S):c.2308G>A (p.Ala770Thr)
NM_000069.3(CACNA1S):c.230A>G (p.Asp77Gly)
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)
NM_000069.3(CACNA1S):c.2311G>T (p.Val771Leu)
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
NM_000069.3(CACNA1S):c.2321C>T (p.Pro774Leu)
NM_000069.3(CACNA1S):c.2324_2330del (p.Glu775fs) rs2102132473
NM_000069.3(CACNA1S):c.2325A>G (p.Glu775=) rs2102132493
NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=) rs749013125
NM_000069.3(CACNA1S):c.2342T>G (p.Ile781Ser) rs780079690
NM_000069.3(CACNA1S):c.2343C>G (p.Ile781Met)
NM_000069.3(CACNA1S):c.2349C>T (p.Ser783=) rs1572043239
NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)
NM_000069.3(CACNA1S):c.2350C>T (p.Pro784Ser)
NM_000069.3(CACNA1S):c.2355C>A (p.Thr785=)
NM_000069.3(CACNA1S):c.2360+10C>T
NM_000069.3(CACNA1S):c.2360+9C>T
NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met)
NM_000069.3(CACNA1S):c.2361-15_2361-12del
NM_000069.3(CACNA1S):c.2361-4C>T rs1187060651
NM_000069.3(CACNA1S):c.2361-5del
NM_000069.3(CACNA1S):c.2361-9C>T
NM_000069.3(CACNA1S):c.237C>G (p.Asn79Lys)
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)
NM_000069.3(CACNA1S):c.2395A>T (p.Thr799Ser) rs1572042622
NM_000069.3(CACNA1S):c.2398T>C (p.Trp800Arg)
NM_000069.3(CACNA1S):c.240C>G (p.Asn80Lys)
NM_000069.3(CACNA1S):c.2412C>T (p.Phe804=)
NM_000069.3(CACNA1S):c.2416C>T (p.Leu806=)
NM_000069.3(CACNA1S):c.2418G>C (p.Leu806=) rs182634146
NM_000069.3(CACNA1S):c.2419C>T (p.Leu807Phe) rs773958053
NM_000069.3(CACNA1S):c.2421C>T (p.Leu807=)
NM_000069.3(CACNA1S):c.2428C>T (p.Leu810=)
NM_000069.3(CACNA1S):c.2434A>G (p.Ser812Gly)
NM_000069.3(CACNA1S):c.2447T>C (p.Leu816Pro)
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2457A>G (p.Glu819=)
NM_000069.3(CACNA1S):c.2463C>T (p.Pro821=)
NM_000069.3(CACNA1S):c.2464A>T (p.Ile822Phe)
NM_000069.3(CACNA1S):c.2467C>A (p.Arg823=)
NM_000069.3(CACNA1S):c.2473G>A (p.Asp825Asn)
NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) rs1558067487
NM_000069.3(CACNA1S):c.2479A>G (p.Met827Val)
NM_000069.3(CACNA1S):c.2490+18C>G
NM_000069.3(CACNA1S):c.2491-12C>T
NM_000069.3(CACNA1S):c.2491-13G>A rs750836806
NM_000069.3(CACNA1S):c.2491-15C>T
NM_000069.3(CACNA1S):c.2491-17C>A
NM_000069.3(CACNA1S):c.2491-19G>A
NM_000069.3(CACNA1S):c.2491-19G>T
NM_000069.3(CACNA1S):c.2491-2A>G
NM_000069.3(CACNA1S):c.2491-5C>G
NM_000069.3(CACNA1S):c.2491-6C>T
NM_000069.3(CACNA1S):c.2503T>G (p.Phe835Val)
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) rs1558067263
NM_000069.3(CACNA1S):c.2511C>G (p.Ile837Met)
NM_000069.3(CACNA1S):c.2511C>T (p.Ile837=) rs764647345
NM_000069.3(CACNA1S):c.2519C>T (p.Thr840Ile) rs2102130615
NM_000069.3(CACNA1S):c.251T>A (p.Leu84His)
NM_000069.3(CACNA1S):c.2535G>C (p.Val845=)
NM_000069.3(CACNA1S):c.2542G>A (p.Val848Ile) rs1661358358
NM_000069.3(CACNA1S):c.254G>A (p.Gly85Asp)
NM_000069.3(CACNA1S):c.2550+11G>C
NM_000069.3(CACNA1S):c.2550+13T>C
NM_000069.3(CACNA1S):c.2550+15T>C
NM_000069.3(CACNA1S):c.2550+16G>A
NM_000069.3(CACNA1S):c.2550+7G>A
NM_000069.3(CACNA1S):c.2551-14C>T
NM_000069.3(CACNA1S):c.2559C>T (p.Thr853=)
NM_000069.3(CACNA1S):c.258+17C>T
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.258+4A>G rs2102190508
NM_000069.3(CACNA1S):c.258+6A>T
NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser)
NM_000069.3(CACNA1S):c.2582G>A (p.Gly861Asp)
NM_000069.3(CACNA1S):c.259-15C>T
NM_000069.3(CACNA1S):c.259-18C>G
NM_000069.3(CACNA1S):c.259-4A>C rs367999059
NM_000069.3(CACNA1S):c.259-6C>T
NM_000069.3(CACNA1S):c.2597A>G (p.Asn866Ser)
NM_000069.3(CACNA1S):c.2608del (p.Met870fs)
NM_000069.3(CACNA1S):c.2612T>C (p.Leu871Pro) rs2102126857
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2622G>T (p.Leu874=) rs1572040066
NM_000069.3(CACNA1S):c.2628G>A (p.Val876=) rs200898535
NM_000069.3(CACNA1S):c.2629G>A (p.Ala877Thr)
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)
NM_000069.3(CACNA1S):c.2646C>T (p.Ser882=)
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2652A>G (p.Gly884=)
NM_000069.3(CACNA1S):c.2657+10G>C
NM_000069.3(CACNA1S):c.2657+9C>A
NM_000069.3(CACNA1S):c.2658-14T>C
NM_000069.3(CACNA1S):c.2658-16C>T
NM_000069.3(CACNA1S):c.2658-7C>A rs1164819470
NM_000069.3(CACNA1S):c.2658-8C>T
NM_000069.3(CACNA1S):c.2658G>T (p.Glu886Asp)
NM_000069.3(CACNA1S):c.2668A>G (p.Ile890Val)
NM_000069.3(CACNA1S):c.2676G>A (p.Val892=)
NM_000069.3(CACNA1S):c.267G>A (p.Leu89=)
NM_000069.3(CACNA1S):c.2688GAGGGTGCT[1] (p.898VLR[1])
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2694G>T (p.Val898=) rs1553250516
NM_000069.3(CACNA1S):c.2695C>T (p.Leu899=) rs1336743984
NM_000069.3(CACNA1S):c.2698A>G (p.Arg900Gly) rs1661234855
NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) rs2102582533
NM_000069.3(CACNA1S):c.2708G>A (p.Arg903Gln) rs1452713683
NM_000069.3(CACNA1S):c.2708G>C (p.Arg903Pro) rs1452713683
NM_000069.3(CACNA1S):c.271T>C (p.Tyr91His)
NM_000069.3(CACNA1S):c.2737G>A (p.Gly913Arg)
NM_000069.3(CACNA1S):c.2740T>A (p.Leu914Met)
NM_000069.3(CACNA1S):c.2745+12C>T
NM_000069.3(CACNA1S):c.2745+15G>A
NM_000069.3(CACNA1S):c.2745+15G>C
NM_000069.3(CACNA1S):c.2745+16G>A
NM_000069.3(CACNA1S):c.2745+5G>A
NM_000069.3(CACNA1S):c.2745+9G>A rs1183235159
NM_000069.3(CACNA1S):c.2746-13C>A
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2746-17_2746-14dup rs2102582037
NM_000069.3(CACNA1S):c.2746-19T>C
NM_000069.3(CACNA1S):c.2746-4C>T rs750533608
NM_000069.3(CACNA1S):c.2746-8G>A rs1572039133
NM_000069.3(CACNA1S):c.2752G>A (p.Val918Met)
NM_000069.3(CACNA1S):c.2753T>C (p.Val918Ala) rs1558065055
NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr)
NM_000069.3(CACNA1S):c.2767G>C (p.Val923Leu) rs571902899
NM_000069.3(CACNA1S):c.2770G>A (p.Ala924Thr) rs1442305463
NM_000069.3(CACNA1S):c.2775C>T (p.Ile925=) rs2102581879
NM_000069.3(CACNA1S):c.2787G>A (p.Gly929=)
NM_000069.3(CACNA1S):c.2793C>T (p.Ile931=)
NM_000069.3(CACNA1S):c.2808C>T (p.Thr936=)
NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=)
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2814A>G (p.Leu938=)
NM_000069.3(CACNA1S):c.2821A>C (p.Met941Leu)
NM_000069.3(CACNA1S):c.2828C>T (p.Ala943Val)
NM_000069.3(CACNA1S):c.2829C>T (p.Ala943=)
NM_000069.3(CACNA1S):c.2831G>A (p.Cys944Tyr) rs1661217137
NM_000069.3(CACNA1S):c.2836G>C (p.Gly946Arg)
NM_000069.3(CACNA1S):c.2839G>C (p.Val947Leu) rs76460090
NM_000069.3(CACNA1S):c.2841C>A (p.Val947=)
NM_000069.3(CACNA1S):c.2847C>T (p.Leu949=)
NM_000069.3(CACNA1S):c.2850C>T (p.Phe950=)
NM_000069.3(CACNA1S):c.2853+17G>A
NM_000069.3(CACNA1S):c.2853+19G>A
NM_000069.3(CACNA1S):c.2853+1G>T
NM_000069.3(CACNA1S):c.2854-11_2854-10del rs780065077
NM_000069.3(CACNA1S):c.2854-20C>G
NM_000069.3(CACNA1S):c.2854-2A>C rs1572036396
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2854-33CCTC[7]
NM_000069.3(CACNA1S):c.2854-4G>T rs1421864888
NM_000069.3(CACNA1S):c.2864T>C (p.Phe955Ser) rs1661089298
NM_000069.3(CACNA1S):c.2875G>A (p.Asp959Asn)
NM_000069.3(CACNA1S):c.2888T>C (p.Met963Thr) rs895181258
NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=) rs1181877748
NM_000069.3(CACNA1S):c.2906+12A>G
NM_000069.3(CACNA1S):c.2906+17G>C
NM_000069.3(CACNA1S):c.2906+18C>A
NM_000069.3(CACNA1S):c.2906+5A>G
NM_000069.3(CACNA1S):c.2907-15dup
NM_000069.3(CACNA1S):c.2907-19C>G
NM_000069.3(CACNA1S):c.2907-3C>T
NM_000069.3(CACNA1S):c.2907-5C>T
NM_000069.3(CACNA1S):c.2907-7G>C
NM_000069.3(CACNA1S):c.2907-9C>T
NM_000069.3(CACNA1S):c.2915A>G (p.Tyr972Cys)
NM_000069.3(CACNA1S):c.2917T>C (p.Tyr973His)
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2921T>G (p.Val974Gly)
NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg) rs760596943
NM_000069.3(CACNA1S):c.2942T>C (p.Met981Thr) rs1661070471
NM_000069.3(CACNA1S):c.2945A>C (p.Gln982Pro)
NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=) rs1553250091
NM_000069.3(CACNA1S):c.2955G>A (p.Leu985=)
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)
NM_000069.3(CACNA1S):c.2965del (p.Glu989fs)
NM_000069.3(CACNA1S):c.2968T>G (p.Trp990Gly) rs1661068374
NM_000069.3(CACNA1S):c.296T>A (p.Ile99Asn) rs374127575
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) rs1572035834
NM_000069.3(CACNA1S):c.2977A>G (p.Ser993Gly) rs2102575798
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.297T>C (p.Ile99=) rs202132932
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)
NM_000069.3(CACNA1S):c.2987A>T (p.His996Leu)
NM_000069.3(CACNA1S):c.2988C>T (p.His996=)
NM_000069.3(CACNA1S):c.2991C>T (p.Phe997=)
NM_000069.3(CACNA1S):c.2996A>G (p.Asn999Ser)
NM_000069.3(CACNA1S):c.29G>A (p.Gly10Asp) rs1663157502
NM_000069.3(CACNA1S):c.3010A>T (p.Met1004Leu) rs2102575730
NM_000069.3(CACNA1S):c.3018_3021del (p.Leu1007fs)
NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) rs1661065356
NM_000069.3(CACNA1S):c.3027G>T (p.Thr1009=)
NM_000069.3(CACNA1S):c.3040G>A (p.Glu1014Lys)
NM_000069.3(CACNA1S):c.3040G>C (p.Glu1014Gln) rs776712220
NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)
NM_000069.3(CACNA1S):c.3044G>A (p.Gly1015Glu)
NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)
NM_000069.3(CACNA1S):c.304G>T (p.Ala102Ser)
NM_000069.3(CACNA1S):c.3051T>C (p.Pro1017=)
NM_000069.3(CACNA1S):c.3053+11G>A
NM_000069.3(CACNA1S):c.3054-16C>G
NM_000069.3(CACNA1S):c.3054-16C>T
NM_000069.3(CACNA1S):c.3054-3del
NM_000069.3(CACNA1S):c.3054-8del
NM_000069.3(CACNA1S):c.3054-9C>T
NM_000069.3(CACNA1S):c.3057G>A (p.Leu1019=)
NM_000069.3(CACNA1S):c.3057G>C (p.Leu1019=)
NM_000069.3(CACNA1S):c.3070A>G (p.Ile1024Val)
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) rs978624647
NM_000069.3(CACNA1S):c.3076_3090del (p.Ser1026_Asp1030del)
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val) rs751604155
NM_000069.3(CACNA1S):c.3107A>G (p.Asn1036Ser)
NM_000069.3(CACNA1S):c.3108C>T (p.Asn1036=) rs773482623
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
NM_000069.3(CACNA1S):c.3113G>T (p.Arg1038Leu) rs774884290
NM_000069.3(CACNA1S):c.3123G>A (p.Met1041Ile)
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) rs562504992
NM_000069.3(CACNA1S):c.3140T>A (p.Ile1047Asn)
NM_000069.3(CACNA1S):c.3140T>C (p.Ile1047Thr)
NM_000069.3(CACNA1S):c.3141C>T (p.Ile1047=)
NM_000069.3(CACNA1S):c.314T>G (p.Ile105Ser) rs780307562
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.3159C>T (p.Ala1053=)
NM_000069.3(CACNA1S):c.3167T>C (p.Met1056Thr)
NM_000069.3(CACNA1S):c.3177C>T (p.Ile1059=) rs1553249999
NM_000069.3(CACNA1S):c.3185G>A (p.Gly1062Asp) rs1553249998
NM_000069.3(CACNA1S):c.3204C>G (p.Phe1068Leu) rs1005780872
NM_000069.3(CACNA1S):c.320C>T (p.Ala107Val)
NM_000069.3(CACNA1S):c.3214G>A (p.Gly1072Arg)
NM_000069.3(CACNA1S):c.3215G>A (p.Gly1072Glu)
NM_000069.3(CACNA1S):c.3219G>A (p.Glu1073=)
NM_000069.3(CACNA1S):c.3220A>G (p.Thr1074Ala)
NM_000069.3(CACNA1S):c.3221C>T (p.Thr1074Ile)
NM_000069.3(CACNA1S):c.3225G>A (p.Glu1075=)
NM_000069.3(CACNA1S):c.3240G>T (p.Glu1080Asp)
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) rs1558062219
NM_000069.3(CACNA1S):c.3255+10C>T rs1572035084
NM_000069.3(CACNA1S):c.3255+17C>T
NM_000069.3(CACNA1S):c.3255+20G>A
NM_000069.3(CACNA1S):c.3255G>T (p.Gln1085His)
NM_000069.3(CACNA1S):c.3256-13G>A
NM_000069.3(CACNA1S):c.3256-13G>T
NM_000069.3(CACNA1S):c.3256-16G>A
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3262T>C (p.Cys1088Arg) rs1661020544
NM_000069.3(CACNA1S):c.3270G>A (p.Gln1090=)
NM_000069.3(CACNA1S):c.3270G>T (p.Gln1090His)
NM_000069.3(CACNA1S):c.3272A>G (p.Tyr1091Cys) rs1661020089
NM_000069.3(CACNA1S):c.3275C>T (p.Ala1092Val)
NM_000069.3(CACNA1S):c.3276C>G (p.Ala1092=)
NM_000069.3(CACNA1S):c.327CTT[1] (p.Phe110del) rs2102167501
NM_000069.3(CACNA1S):c.3285C>A (p.Ala1095=)
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
NM_000069.3(CACNA1S):c.3288C>A (p.Arg1096=)
NM_000069.3(CACNA1S):c.3294G>A (p.Leu1098=)
NM_000069.3(CACNA1S):c.3296G>A (p.Arg1099Lys)
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)
NM_000069.3(CACNA1S):c.3315C>A (p.Asn1105Lys)
NM_000069.3(CACNA1S):c.3323A>G (p.Gln1108Arg)
NM_000069.3(CACNA1S):c.3337T>C (p.Tyr1113His) rs1553249924
NM_000069.3(CACNA1S):c.3339C>A (p.Tyr1113Ter)
NM_000069.3(CACNA1S):c.3348C>T (p.Thr1116=) rs2102573526
NM_000069.3(CACNA1S):c.3357C>T (p.Tyr1119=)
NM_000069.3(CACNA1S):c.3369G>A (p.Leu1123=) rs535424694
NM_000069.3(CACNA1S):c.336C>T (p.Phe112=)
NM_000069.3(CACNA1S):c.3381C>T (p.Leu1127=)
NM_000069.3(CACNA1S):c.3386T>C (p.Met1129Thr)
NM_000069.3(CACNA1S):c.33G>A (p.Leu11=)
NM_000069.3(CACNA1S):c.3401G>C (p.Cys1134Ser) rs1661013466
NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp) rs375919164
NM_000069.3(CACNA1S):c.3410T>G (p.Met1137Arg)
NM_000069.3(CACNA1S):c.3414+17A>G
NM_000069.3(CACNA1S):c.3414+2dup rs1661012107
NM_000069.3(CACNA1S):c.3414+8C>T
NM_000069.3(CACNA1S):c.3415-1G>A rs780724976
NM_000069.3(CACNA1S):c.3423C>T (p.Asn1141=)
NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg) rs139373152
NM_000069.3(CACNA1S):c.3427T>C (p.Ser1143Pro)
NM_000069.3(CACNA1S):c.3437T>C (p.Met1146Thr) rs763707356
NM_000069.3(CACNA1S):c.343G>A (p.Asp115Asn) rs1341944901
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)
NM_000069.3(CACNA1S):c.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.3447C>T (p.Ile1149=) rs763544900
NM_000069.3(CACNA1S):c.3453C>T (p.Asp1151=) rs2102571362
NM_000069.3(CACNA1S):c.3456C>T (p.Ile1152=) rs2102571355
NM_000069.3(CACNA1S):c.3459C>T (p.Leu1153=)
NM_000069.3(CACNA1S):c.3462T>A (p.Asn1154Lys)
NM_000069.3(CACNA1S):c.3467C>A (p.Ala1156Asp)
NM_000069.3(CACNA1S):c.3468C>G (p.Ala1156=)
NM_000069.3(CACNA1S):c.3472_3473del (p.Thr1158fs)
NM_000069.3(CACNA1S):c.3483C>T (p.Phe1161=)
NM_000069.3(CACNA1S):c.3487C>A (p.Leu1163Met)
NM_000069.3(CACNA1S):c.3493A>T (p.Met1165Leu)
NM_000069.3(CACNA1S):c.3499C>T (p.Leu1167Phe)
NM_000069.3(CACNA1S):c.3505C>T (p.Leu1169Phe)
NM_000069.3(CACNA1S):c.3510G>A (p.Met1170Ile)
NM_000069.3(CACNA1S):c.3513C>T (p.Ala1171=)
NM_000069.3(CACNA1S):c.3520G>A (p.Ala1174Thr)
NM_000069.3(CACNA1S):c.3521C>T (p.Ala1174Val)
NM_000069.3(CACNA1S):c.3525+19G>C
NM_000069.3(CACNA1S):c.3525+19G>T
NM_000069.3(CACNA1S):c.3525+1G>A rs1572033599
NM_000069.3(CACNA1S):c.3526-13T>A rs1660927487
NM_000069.3(CACNA1S):c.3526-17A>G
NM_000069.3(CACNA1S):c.3526-2A>G rs797045031
NM_000069.3(CACNA1S):c.3526-5C>T
NM_000069.3(CACNA1S):c.3526-7T>G rs2102570172
NM_000069.3(CACNA1S):c.352C>T (p.Leu118=) rs2102167456
NM_000069.3(CACNA1S):c.3533T>A (p.Phe1178Tyr)
NM_000069.3(CACNA1S):c.3537A>G (p.Gly1179=) rs2102570132
NM_000069.3(CACNA1S):c.3540C>T (p.Asp1180=) rs2102570120
NM_000069.3(CACNA1S):c.3542C>T (p.Pro1181Leu)
NM_000069.3(CACNA1S):c.355C>T (p.Arg119Cys)
NM_000069.3(CACNA1S):c.3564G>A (p.Leu1188=) rs781739099
NM_000069.3(CACNA1S):c.3567del (p.Ile1189fs)
NM_000069.3(CACNA1S):c.3569T>A (p.Val1190Asp) rs1405148658
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) rs749588662
NM_000069.3(CACNA1S):c.3581T>C (p.Ile1194Thr)
NM_000069.3(CACNA1S):c.3582C>T (p.Ile1194=)
NM_000069.3(CACNA1S):c.3585T>C (p.Ile1195=) rs1572033019
NM_000069.3(CACNA1S):c.358A>G (p.Ser120Gly)
NM_000069.3(CACNA1S):c.3591C>T (p.Val1197=)
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
NM_000069.3(CACNA1S):c.3609+10A>G rs1660923412
NM_000069.3(CACNA1S):c.3609+19G>A
NM_000069.3(CACNA1S):c.3610-10T>C
NM_000069.3(CACNA1S):c.3610-12T>G
NM_000069.3(CACNA1S):c.3610-15C>G
NM_000069.3(CACNA1S):c.3610-5C>T rs2102563925
NM_000069.3(CACNA1S):c.3610-6C>G
NM_000069.3(CACNA1S):c.3623C>T (p.Ser1208Phe)
NM_000069.3(CACNA1S):c.3630G>A (p.Gly1210=) rs1572029683
NM_000069.3(CACNA1S):c.3630G>C (p.Gly1210=)
NM_000069.3(CACNA1S):c.3631G>A (p.Gly1211Arg)
NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu)
NM_000069.3(CACNA1S):c.3666+17C>A
NM_000069.3(CACNA1S):c.3666+17C>T
NM_000069.3(CACNA1S):c.3666+20G>C
NM_000069.3(CACNA1S):c.3667-12G>A rs2102562465
NM_000069.3(CACNA1S):c.3667-16G>C
NM_000069.3(CACNA1S):c.3667-4G>T rs762497596
NM_000069.3(CACNA1S):c.3667-6C>T rs1660735748
NM_000069.3(CACNA1S):c.3667-7C>G
NM_000069.3(CACNA1S):c.3669C>G (p.Asp1223Glu) rs2102562430
NM_000069.3(CACNA1S):c.3671C>G (p.Pro1224Arg)
NM_000069.3(CACNA1S):c.3672A>G (p.Pro1224=) rs2102562413
NM_000069.3(CACNA1S):c.3674A>G (p.Asp1225Gly) rs1660734688
NM_000069.3(CACNA1S):c.3676G>A (p.Glu1226Lys)
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro) rs774416016
NM_000069.3(CACNA1S):c.3697G>A (p.Ala1233Thr)
NM_000069.3(CACNA1S):c.3700T>A (p.Phe1234Ile) rs1660733125
NM_000069.3(CACNA1S):c.3707G>A (p.Arg1236His)
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3720C>G (p.Val1240=)
NM_000069.3(CACNA1S):c.3720C>T (p.Val1240=) rs1293933730
NM_000069.3(CACNA1S):c.3727C>T (p.Leu1243=)
NM_000069.3(CACNA1S):c.3732C>A (p.Ile1244=) rs2102562223
NM_000069.3(CACNA1S):c.3741G>A (p.Leu1247=)
NM_000069.3(CACNA1S):c.3747G>A (p.Arg1249=)
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met) rs1660730259
NM_000069.3(CACNA1S):c.3757G>C (p.Val1253Leu)
NM_000069.3(CACNA1S):c.3759G>T (p.Val1253=)
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter)
NM_000069.3(CACNA1S):c.3763A>G (p.Thr1255Ala) rs1660729628
NM_000069.3(CACNA1S):c.3766C>T (p.Leu1256Phe)
NM_000069.3(CACNA1S):c.3771G>A (p.Leu1257=) rs2102562124
NM_000069.3(CACNA1S):c.3772T>C (p.Trp1258Arg) rs1660729396
NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) rs1660729290
NM_000069.3(CACNA1S):c.3774G>C (p.Trp1258Cys) rs1660729185
NM_000069.3(CACNA1S):c.3776C>T (p.Thr1259Met) rs376326495
NM_000069.3(CACNA1S):c.3794A>G (p.Gln1265Arg)
NM_000069.3(CACNA1S):c.3795+15C>G
NM_000069.3(CACNA1S):c.3795+4C>T
NM_000069.3(CACNA1S):c.3795+9G>C rs2102562042
NM_000069.3(CACNA1S):c.3796-10C>G
NM_000069.3(CACNA1S):c.3796-18C>G
NM_000069.3(CACNA1S):c.3796-3del
NM_000069.3(CACNA1S):c.3796-9G>C
NM_000069.3(CACNA1S):c.3796G>A (p.Ala1266Thr) rs2102561728
NM_000069.3(CACNA1S):c.3801A>G (p.Leu1267=) rs1257331415
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser) rs921262693
NM_000069.3(CACNA1S):c.3806A>G (p.Tyr1269Cys)
NM_000069.3(CACNA1S):c.3808G>A (p.Val1270Met)
NM_000069.3(CACNA1S):c.3813T>C (p.Ala1271=)
NM_000069.3(CACNA1S):c.3831C>T (p.Leu1277=)
NM_000069.3(CACNA1S):c.3832T>G (p.Phe1278Val)
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.384C>A (p.Thr128=)
NM_000069.3(CACNA1S):c.3853G>A (p.Gly1285Ser)
NM_000069.3(CACNA1S):c.3854G>A (p.Gly1285Asp)
NM_000069.3(CACNA1S):c.3857T>C (p.Met1286Thr)
NM_000069.3(CACNA1S):c.3861+13C>G
NM_000069.3(CACNA1S):c.3861+13C>T
NM_000069.3(CACNA1S):c.3861+14G>A rs200654730
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3861+15G>A
NM_000069.3(CACNA1S):c.3861+5G>A
NM_000069.3(CACNA1S):c.3861+8G>A
NM_000069.3(CACNA1S):c.3862-13T>C
NM_000069.3(CACNA1S):c.3862-17C>A
NM_000069.3(CACNA1S):c.3862-17C>T
NM_000069.3(CACNA1S):c.3862-18G>A rs2102560860
NM_000069.3(CACNA1S):c.3864G>A (p.Met1288Ile)
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.3877G>A (p.Ala1293Thr)
NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=) rs1660694623
NM_000069.3(CACNA1S):c.389T>A (p.Val130Asp)
NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser)
NM_000069.3(CACNA1S):c.390C>T (p.Val130=)
NM_000069.3(CACNA1S):c.3933A>G (p.Gln1311=)
NM_000069.3(CACNA1S):c.3934G>A (p.Ala1312Thr) rs2102560671
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+11C>T
NM_000069.3(CACNA1S):c.3953+13C>T rs767630424
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+14G>T
NM_000069.3(CACNA1S):c.3953+19C>T
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3953+5G>T
NM_000069.3(CACNA1S):c.3953+7G>C
NM_000069.3(CACNA1S):c.3954-16C>T
NM_000069.3(CACNA1S):c.3954-18G>A
NM_000069.3(CACNA1S):c.3954G>A (p.Arg1318=)
NM_000069.3(CACNA1S):c.3962C>A (p.Thr1321Lys)
NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) rs886045797
NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.398+6A>G rs1187491805
NM_000069.3(CACNA1S):c.399-16C>G
NM_000069.3(CACNA1S):c.399-16C>T
NM_000069.3(CACNA1S):c.399-17C>T
NM_000069.3(CACNA1S):c.399-20C>A
NM_000069.3(CACNA1S):c.399-20C>G
NM_000069.3(CACNA1S):c.399-5_399-3del
NM_000069.3(CACNA1S):c.399-5del
NM_000069.3(CACNA1S):c.399-7A>G
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)
NM_000069.3(CACNA1S):c.4011G>A (p.Leu1337=) rs1185048911
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) rs563795648
NM_000069.3(CACNA1S):c.4026G>C (p.Ser1342=)
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4039G>C (p.Gly1347Arg) rs2102558476
NM_000069.3(CACNA1S):c.403T>C (p.Phe135Leu)
NM_000069.3(CACNA1S):c.4040G>T (p.Gly1347Val)
NM_000069.3(CACNA1S):c.4043A>T (p.Glu1348Val)
NM_000069.3(CACNA1S):c.4047G>A (p.Glu1349=) rs765572810
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4052C>T (p.Thr1351Ile)
NM_000069.3(CACNA1S):c.4059C>T (p.Gly1353=)
NM_000069.3(CACNA1S):c.4060A>C (p.Thr1354Pro)
NM_000069.3(CACNA1S):c.4063A>G (p.Asn1355Asp)
NM_000069.3(CACNA1S):c.4078T>C (p.Tyr1360His)
NM_000069.3(CACNA1S):c.4079A>G (p.Tyr1360Cys)
NM_000069.3(CACNA1S):c.4081T>A (p.Phe1361Ile)
NM_000069.3(CACNA1S):c.4086C>T (p.Ile1362=)
NM_000069.3(CACNA1S):c.4094A>G (p.Tyr1365Cys)
NM_000069.3(CACNA1S):c.4109T>A (p.Phe1370Tyr)
NM_000069.3(CACNA1S):c.4113+12A>G
NM_000069.3(CACNA1S):c.4113+19G>C rs2102558285
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4113+20C>T
NM_000069.3(CACNA1S):c.4113+5G>C
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.4114-10T>G
NM_000069.3(CACNA1S):c.4114-5T>A rs1421023094
NM_000069.3(CACNA1S):c.4114-7C>T
NM_000069.3(CACNA1S):c.4114G>T (p.Val1372Phe) rs1660614160
NM_000069.3(CACNA1S):c.4128T>C (p.Phe1376=) rs1572025819
NM_000069.3(CACNA1S):c.4132G>T (p.Ala1378Ser) rs1272205273
NM_000069.3(CACNA1S):c.4148A>G (p.Asn1383Ser)
NM_000069.3(CACNA1S):c.4154A>G (p.Asp1385Gly) rs1660612036
NM_000069.3(CACNA1S):c.4158C>T (p.Tyr1386=)
NM_000069.3(CACNA1S):c.4171T>A (p.Trp1391Arg) rs200062688
NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter)
NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter) rs761239255
NM_000069.3(CACNA1S):c.4176C>A (p.Ser1392=)
NM_000069.3(CACNA1S):c.4177A>G (p.Ile1393Val) rs2102557535
NM_000069.3(CACNA1S):c.4182G>A (p.Leu1394=)
NM_000069.3(CACNA1S):c.4182G>C (p.Leu1394=)
NM_000069.3(CACNA1S):c.4184del (p.Gly1395fs)
NM_000069.3(CACNA1S):c.4185C>T (p.Gly1395=)
NM_000069.3(CACNA1S):c.4189C>T (p.His1397Tyr) rs1184865188
NM_000069.3(CACNA1S):c.4191T>A (p.His1397Gln)
NM_000069.3(CACNA1S):c.4191T>C (p.His1397=)
NM_000069.3(CACNA1S):c.4197G>A (p.Leu1399=)
NM_000069.3(CACNA1S):c.4197G>T (p.Leu1399=) rs961175031
NM_000069.3(CACNA1S):c.4210del (p.Ala1404fs) rs2102557481
NM_000069.3(CACNA1S):c.4219G>T (p.Ala1407Ser)
NM_000069.3(CACNA1S):c.4236G>A (p.Glu1412=)
NM_000069.3(CACNA1S):c.4241+9A>T rs1558056014
NM_000069.3(CACNA1S):c.4242-10C>T
NM_000069.3(CACNA1S):c.4242-14G>C
NM_000069.3(CACNA1S):c.4242-14G>T
NM_000069.3(CACNA1S):c.4242-16G>C
NM_000069.3(CACNA1S):c.4242-19T>A
NM_000069.3(CACNA1S):c.4242-20G>A
NM_000069.3(CACNA1S):c.4242-4G>T
NM_000069.3(CACNA1S):c.4242-7C>T
NM_000069.3(CACNA1S):c.4242-8T>C
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4248A>G (p.Arg1416=) rs2102555712
NM_000069.3(CACNA1S):c.4250T>C (p.Ile1417Thr) rs372383822
NM_000069.3(CACNA1S):c.4263C>A (p.Asp1421Glu)
NM_000069.3(CACNA1S):c.4266G>A (p.Val1422=) rs2102555682
NM_000069.3(CACNA1S):c.4269G>C (p.Val1423=)
NM_000069.3(CACNA1S):c.4275G>A (p.Leu1425=) rs2102555664
NM_000069.3(CACNA1S):c.4276C>T (p.Leu1426=) rs1572024632
NM_000069.3(CACNA1S):c.4278G>C (p.Leu1426=)
NM_000069.3(CACNA1S):c.4280G>A (p.Arg1427Lys)
NM_000069.3(CACNA1S):c.4295C>T (p.Pro1432Leu) rs1660566248
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4308G>A (p.Gly1436=)
NM_000069.3(CACNA1S):c.4308G>T (p.Gly1436=) rs758009532
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.3(CACNA1S):c.430G>A (p.Val144Ile)
NM_000069.3(CACNA1S):c.4312T>C (p.Phe1438Leu)
NM_000069.3(CACNA1S):c.4316G>A (p.Cys1439Tyr)
NM_000069.3(CACNA1S):c.4322A>G (p.His1441Arg)
NM_000069.3(CACNA1S):c.4325G>A (p.Arg1442Gln)
NM_000069.3(CACNA1S):c.4331C>T (p.Ala1444Val)
NM_000069.3(CACNA1S):c.4338+1G>A
NM_000069.3(CACNA1S):c.4338+8G>C
NM_000069.3(CACNA1S):c.4339-10C>A
NM_000069.3(CACNA1S):c.4339C>A (p.Arg1447=)
NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)
NM_000069.3(CACNA1S):c.4349G>A (p.Gly1450Asp)
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4353G>A (p.Met1451Ile) rs773780364
NM_000069.3(CACNA1S):c.435C>T (p.Ile145=)
NM_000069.3(CACNA1S):c.4362C>A (p.Pro1454=)
NM_000069.3(CACNA1S):c.4362C>G (p.Pro1454=)
NM_000069.3(CACNA1S):c.4363del (p.Pro1454_Leu1455insTer)
NM_000069.3(CACNA1S):c.436del (p.Gln146fs) rs2102164740
NM_000069.3(CACNA1S):c.4371C>T (p.Ser1457=)
NM_000069.3(CACNA1S):c.437A>G (p.Gln146Arg)
NM_000069.3(CACNA1S):c.4405G>T (p.Ala1469Ser)
NM_000069.3(CACNA1S):c.4410G>A (p.Leu1470=)
NM_000069.3(CACNA1S):c.4410G>C (p.Leu1470=)
NM_000069.3(CACNA1S):c.4413C>T (p.Val1471=) rs2102554924
NM_000069.3(CACNA1S):c.4415G>T (p.Arg1472Leu)
NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=)
NM_000069.3(CACNA1S):c.4418C>T (p.Thr1473Met)
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4419G>C (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4420G>A (p.Ala1474Thr)
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.443A>T (p.His148Leu)
NM_000069.3(CACNA1S):c.4441+13del
NM_000069.3(CACNA1S):c.4441+15C>A
NM_000069.3(CACNA1S):c.4441+17A>G
NM_000069.3(CACNA1S):c.4441+9G>A rs1222596828
NM_000069.3(CACNA1S):c.4442-13T>G
NM_000069.3(CACNA1S):c.4442-2A>G rs2102553716
NM_000069.3(CACNA1S):c.4442-4C>A
NM_000069.3(CACNA1S):c.4442G>A (p.Gly1481Asp)
NM_000069.3(CACNA1S):c.4449T>C (p.Phe1483=) rs2102553704
NM_000069.3(CACNA1S):c.4452G>A (p.Glu1484=) rs2102553700
NM_000069.3(CACNA1S):c.4455G>A (p.Gln1485=)
NM_000069.3(CACNA1S):c.4456G>A (p.Ala1486Thr)
NM_000069.3(CACNA1S):c.4458C>T (p.Ala1486=) rs2102553688
NM_000069.3(CACNA1S):c.4460A>G (p.Asn1487Ser)
NM_000069.3(CACNA1S):c.4461C>A (p.Asn1487Lys) rs149668892
NM_000069.3(CACNA1S):c.4467G>A (p.Glu1489=) rs1293597531
NM_000069.3(CACNA1S):c.4472G>A (p.Arg1491Lys) rs2102553652
NM_000069.3(CACNA1S):c.4484AGA[1] (p.Lys1496del)
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)
NM_000069.3(CACNA1S):c.4506C>T (p.Ser1502=)
NM_000069.3(CACNA1S):c.4509G>A (p.Met1503Ile)
NM_000069.3(CACNA1S):c.4517T>G (p.Leu1506Trp)
NM_000069.3(CACNA1S):c.4523A>G (p.Gln1508Arg)
NM_000069.3(CACNA1S):c.4524G>C (p.Gln1508His)
NM_000069.3(CACNA1S):c.4543+18G>A
NM_000069.3(CACNA1S):c.4543+19G>A
NM_000069.3(CACNA1S):c.4543+2T>C rs1572023336
NM_000069.3(CACNA1S):c.4544-16G>A
NM_000069.3(CACNA1S):c.4545T>C (p.Asp1515=)
NM_000069.3(CACNA1S):c.4551G>A (p.Glu1517=)
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr) rs760097708
NM_000069.3(CACNA1S):c.458G>A (p.Ser153Asn)
NM_000069.3(CACNA1S):c.4596C>T (p.His1532=)
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr)
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) rs774256022
NM_000069.3(CACNA1S):c.4617C>T (p.Arg1539=) rs1572023003
NM_000069.3(CACNA1S):c.4618C>G (p.Gln1540Glu) rs1351956022
NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)
NM_000069.3(CACNA1S):c.461G>A (p.Ser154Asn) rs1662254411
NM_000069.3(CACNA1S):c.4620A>C (p.Gln1540His)
NM_000069.3(CACNA1S):c.4620A>G (p.Gln1540=) rs1300838444
NM_000069.3(CACNA1S):c.4621G>A (p.Glu1541Lys)
NM_000069.3(CACNA1S):c.462C>G (p.Ser154Arg)
NM_000069.3(CACNA1S):c.4633G>A (p.Gly1545Ser)
NM_000069.3(CACNA1S):c.4634G>T (p.Gly1545Val)
NM_000069.3(CACNA1S):c.4637A>G (p.Tyr1546Cys)
NM_000069.3(CACNA1S):c.4640G>A (p.Arg1547Gln)
NM_000069.3(CACNA1S):c.4641G>T (p.Arg1547=)
NM_000069.3(CACNA1S):c.4647G>C (p.Lys1549Asn)
NM_000069.3(CACNA1S):c.4650G>C (p.Lys1550Asn)
NM_000069.3(CACNA1S):c.4654A>G (p.Ile1552Val)
NM_000069.3(CACNA1S):c.4660C>A (p.Gln1554Lys) rs1660496585
NM_000069.3(CACNA1S):c.4668+14A>G
NM_000069.3(CACNA1S):c.4668+20del
NM_000069.3(CACNA1S):c.4668+9A>G
NM_000069.3(CACNA1S):c.4669-12C>T
NM_000069.3(CACNA1S):c.4669-20A>G
NM_000069.3(CACNA1S):c.4669-6C>T
NM_000069.3(CACNA1S):c.466G>A (p.Gly156Arg)
NM_000069.3(CACNA1S):c.4672G>A (p.Gly1558Arg)
NM_000069.3(CACNA1S):c.4674G>C (p.Gly1558=) rs2102549438
NM_000069.3(CACNA1S):c.4692A>G (p.Glu1564=)
NM_000069.3(CACNA1S):c.470C>G (p.Ala157Gly) rs1662254049
NM_000069.3(CACNA1S):c.4714C>T (p.Arg1572Cys)
NM_000069.3(CACNA1S):c.4718C>A (p.Thr1573Lys)
NM_000069.3(CACNA1S):c.4719G>A (p.Thr1573=)
NM_000069.3(CACNA1S):c.4731C>A (p.Asp1577Glu) rs202120583
NM_000069.3(CACNA1S):c.4737T>C (p.Ala1579=) rs2102549285
NM_000069.3(CACNA1S):c.4740T>A (p.Ala1580=)
NM_000069.3(CACNA1S):c.474C>T (p.Gly158=)
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp) rs749495704
NM_000069.3(CACNA1S):c.4767G>A (p.Val1589=) rs2102549218
NM_000069.3(CACNA1S):c.4775C>G (p.Ala1592Gly)
NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr) rs781500916
NM_000069.3(CACNA1S):c.4794C>G (p.Phe1598Leu)
NM_000069.3(CACNA1S):c.4797+10A>G
NM_000069.3(CACNA1S):c.4797+1G>A rs1323823133
NM_000069.3(CACNA1S):c.4798-12_4798-10del
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373
NM_000069.3(CACNA1S):c.4798-5C>G
NM_000069.3(CACNA1S):c.4798-5C>T rs375500585
NM_000069.3(CACNA1S):c.4798-7C>T rs753513483
NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu)
NM_000069.3(CACNA1S):c.4800G>A (p.Arg1600=)
NM_000069.3(CACNA1S):c.4803T>C (p.Thr1601=)
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.4810C>T (p.Leu1604=)
NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter)
NM_000069.3(CACNA1S):c.4827C>T (p.Asp1609=) rs746100808
NM_000069.3(CACNA1S):c.4832_4849dup (p.Asn1616_Ser1617insPheLeuGluArgThrAsn)
NM_000069.3(CACNA1S):c.4834del (p.Leu1612fs) rs2102547896
NM_000069.3(CACNA1S):c.4835T>C (p.Leu1612Pro)
NM_000069.3(CACNA1S):c.4836G>A (p.Leu1612=)
NM_000069.3(CACNA1S):c.4836G>C (p.Leu1612=)
NM_000069.3(CACNA1S):c.4847A>G (p.Asn1616Ser)
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)
NM_000069.3(CACNA1S):c.4857C>G (p.Pro1619=) rs2102547833
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) rs761214441
NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) rs1572019465
NM_000069.3(CACNA1S):c.4872T>C (p.Asn1624=) rs2102547760
NM_000069.3(CACNA1S):c.4881C>A (p.Pro1627=) rs919423482
NM_000069.3(CACNA1S):c.4885C>G (p.Gln1629Glu)
NM_000069.3(CACNA1S):c.4893T>G (p.Ala1631=) rs1572019425
NM_000069.3(CACNA1S):c.4908A>G (p.Glu1636=) rs1460660235
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515
NM_000069.3(CACNA1S):c.4915G>C (p.Glu1639Gln) rs758332515
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)
NM_000069.3(CACNA1S):c.493A>G (p.Arg165Gly)
NM_000069.3(CACNA1S):c.4940T>C (p.Phe1647Ser) rs2102547613
NM_000069.3(CACNA1S):c.4941C>A (p.Phe1647Leu)
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) rs772130841
NM_000069.3(CACNA1S):c.494G>A (p.Arg165Lys) rs2102164633
NM_000069.3(CACNA1S):c.4953A>G (p.Pro1651=)
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)
NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=) rs775497469
NM_000069.3(CACNA1S):c.4957A>G (p.Thr1653Ala) rs1660353768
NM_000069.3(CACNA1S):c.4962C>A (p.Asn1654Lys)
NM_000069.3(CACNA1S):c.4966C>T (p.Leu1656=)
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000069.3(CACNA1S):c.4972C>G (p.Arg1658Gly) rs147392278
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.4973G>T (p.Arg1658Leu)
NM_000069.3(CACNA1S):c.4977C>A (p.Ala1659=)
NM_000069.3(CACNA1S):c.4979A>G (p.Asn1660Ser)
NM_000069.3(CACNA1S):c.497C>T (p.Ala166Val)
NM_000069.3(CACNA1S):c.4998C>T (p.Ala1666=) rs929593930
NM_000069.3(CACNA1S):c.5000A>G (p.Asn1667Ser)
NM_000069.3(CACNA1S):c.5001T>C (p.Asn1667=)
NM_000069.3(CACNA1S):c.5004C>G (p.Val1668=)
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) rs199989324
NM_000069.3(CACNA1S):c.5010T>C (p.Tyr1670=)
NM_000069.3(CACNA1S):c.5012G>A (p.Gly1671Asp)
NM_000069.3(CACNA1S):c.5016C>A (p.Asn1672Lys)
NM_000069.3(CACNA1S):c.5016C>T (p.Asn1672=) rs1660347602
NM_000069.3(CACNA1S):c.5020_5034dup (p.Ser1678_His1679insAsnHisSerAsnSer)
NM_000069.3(CACNA1S):c.5025T>C (p.His1675=)
NM_000069.3(CACNA1S):c.5037T>C (p.His1679=)
NM_000069.3(CACNA1S):c.5042_5048+3del
NM_000069.3(CACNA1S):c.5045C>T (p.Ser1682Phe)
NM_000069.3(CACNA1S):c.5048+13A>G
NM_000069.3(CACNA1S):c.5048+18C>T
NM_000069.3(CACNA1S):c.5049-12C>G
NM_000069.3(CACNA1S):c.5049-17C>G
NM_000069.3(CACNA1S):c.5049-6T>A
NM_000069.3(CACNA1S):c.5049-7A>C
NM_000069.3(CACNA1S):c.5064G>A (p.Arg1688=)
NM_000069.3(CACNA1S):c.5065G>A (p.Glu1689Lys)
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
NM_000069.3(CACNA1S):c.5081C>G (p.Thr1694Arg)
NM_000069.3(CACNA1S):c.5082A>G (p.Thr1694=) rs2102541709
NM_000069.3(CACNA1S):c.5088G>A (p.Thr1696=)
NM_000069.3(CACNA1S):c.5091T>A (p.Pro1697=) rs1027512934
NM_000069.3(CACNA1S):c.5094T>C (p.Ala1698=) rs2102541589
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5102G>C (p.Gly1701Ala) rs2102541566
NM_000069.3(CACNA1S):c.5104C>A (p.Arg1702=)
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5118A>G (p.Gln1706=) rs2102541479
NM_000069.3(CACNA1S):c.5120C>T (p.Pro1707Leu)
NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly) rs1660201407
NM_000069.3(CACNA1S):c.5127G>C (p.Arg1709Ser)
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.5134+10T>G rs1572014824
NM_000069.3(CACNA1S):c.5134+14G>A
NM_000069.3(CACNA1S):c.5134+15T>C
NM_000069.3(CACNA1S):c.5134+7C>T
NM_000069.3(CACNA1S):c.5135-12T>G
NM_000069.3(CACNA1S):c.5135-17C>T
NM_000069.3(CACNA1S):c.5135-6A>G rs1572012951
NM_000069.3(CACNA1S):c.5139C>T (p.Pro1713=)
NM_000069.3(CACNA1S):c.5142C>A (p.His1714Gln) rs1558048972
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr) rs370041629
NM_000069.3(CACNA1S):c.514C>T (p.Pro172Ser)
NM_000069.3(CACNA1S):c.5169G>A (p.Lys1723=)
NM_000069.3(CACNA1S):c.516C>A (p.Pro172=)
NM_000069.3(CACNA1S):c.5178G>T (p.Leu1726=)
NM_000069.3(CACNA1S):c.517C>T (p.Leu173Phe)
NM_000069.3(CACNA1S):c.5197A>G (p.Arg1733Gly)
NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser)
NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=) rs1490186766
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)
NM_000069.3(CACNA1S):c.5209_5226+3dup rs1660129870
NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr)
NM_000069.3(CACNA1S):c.5215G>T (p.Ala1739Ser)
NM_000069.3(CACNA1S):c.5216C>G (p.Ala1739Gly)
NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu)
NM_000069.3(CACNA1S):c.5222G>T (p.Cys1741Phe)
NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)
NM_000069.3(CACNA1S):c.5226+1G>A
NM_000069.3(CACNA1S):c.5226+8T>C
NM_000069.3(CACNA1S):c.5227-11C>A
NM_000069.3(CACNA1S):c.5227-16T>C
NM_000069.3(CACNA1S):c.5227-2del rs1660108555
NM_000069.3(CACNA1S):c.5227-6G>A
NM_000069.3(CACNA1S):c.5227-8T>C
NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter) rs1434902604
NM_000069.3(CACNA1S):c.5229C>T (p.Cys1743=)
NM_000069.3(CACNA1S):c.5233A>C (p.Arg1745=)
NM_000069.3(CACNA1S):c.523C>A (p.Leu175Met)
NM_000069.3(CACNA1S):c.5248A>C (p.Met1750Leu) rs771065920
NM_000069.3(CACNA1S):c.5251C>T (p.Pro1751Ser)
NM_000069.3(CACNA1S):c.5253T>C (p.Pro1751=)
NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys)
NM_000069.3(CACNA1S):c.525G>T (p.Leu175=) rs1452693805
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn) rs777977731
NM_000069.3(CACNA1S):c.526G>C (p.Val176Leu) rs571114435
NM_000069.3(CACNA1S):c.5278G>T (p.Gly1760Trp)
NM_000069.3(CACNA1S):c.5279G>C (p.Gly1760Ala) rs554208789
NM_000069.3(CACNA1S):c.5280G>A (p.Gly1760=)
NM_000069.3(CACNA1S):c.5280G>T (p.Gly1760=)
NM_000069.3(CACNA1S):c.5290GAG[1] (p.Glu1765del)
NM_000069.3(CACNA1S):c.5292G>A (p.Glu1764=)
NM_000069.3(CACNA1S):c.5293_5294delinsAG (p.Glu1765Arg)
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5300C>G (p.Pro1767Arg)
NM_000069.3(CACNA1S):c.5301C>A (p.Pro1767=)
NM_000069.3(CACNA1S):c.5302C>T (p.His1768Tyr)
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys) rs1558048332
NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn)
NM_000069.3(CACNA1S):c.5322G>A (p.Glu1774=) rs377099101
NM_000069.3(CACNA1S):c.5335T>G (p.Cys1779Gly) rs370520150
NM_000069.3(CACNA1S):c.5337C>A (p.Cys1779Ter)
NM_000069.3(CACNA1S):c.5340A>C (p.Ser1780=)
NM_000069.3(CACNA1S):c.5341G>C (p.Ala1781Pro)
NM_000069.3(CACNA1S):c.5344C>G (p.Pro1782Ala)
NM_000069.3(CACNA1S):c.5345C>A (p.Pro1782Gln)
NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=) rs371876697
NM_000069.3(CACNA1S):c.535G>T (p.Val179Leu)
NM_000069.3(CACNA1S):c.5370+16G>C
NM_000069.3(CACNA1S):c.5370+5G>A rs762200667
NM_000069.3(CACNA1S):c.5371-14T>A
NM_000069.3(CACNA1S):c.5371-3C>T
NM_000069.3(CACNA1S):c.5380C>T (p.Arg1794Ter)
NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=) rs1553247345
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.5394C>G (p.Gly1798=)
NM_000069.3(CACNA1S):c.5399_5400inv (p.Leu1800Ser)
NM_000069.3(CACNA1S):c.5400G>A (p.Leu1800=)
NM_000069.3(CACNA1S):c.541+10A>G rs1235748457
NM_000069.3(CACNA1S):c.541+16C>A
NM_000069.3(CACNA1S):c.541+17C>T
NM_000069.3(CACNA1S):c.541+19G>A
NM_000069.3(CACNA1S):c.541+3G>A rs1662249692
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.5415C>T (p.Asn1805=) rs1572010898
NM_000069.3(CACNA1S):c.542-18C>G
NM_000069.3(CACNA1S):c.542-4G>A rs2102164152
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5421C>T (p.Ile1807=)
NM_000069.3(CACNA1S):c.5424G>A (p.Met1808Ile)
NM_000069.3(CACNA1S):c.5435A>T (p.Gln1812Leu)
NM_000069.3(CACNA1S):c.543C>T (p.Ser181=) rs1188781560
NM_000069.3(CACNA1S):c.5448T>A (p.Asp1816Glu)
NM_000069.3(CACNA1S):c.544C>T (p.Leu182=)
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5469G>A (p.Glu1823=)
NM_000069.3(CACNA1S):c.5473G>A (p.Val1825Met)
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) rs373693197
NM_000069.3(CACNA1S):c.5483T>C (p.Met1828Thr)
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5493G>A (p.Glu1831=)
NM_000069.3(CACNA1S):c.54G>A (p.Lys18=) rs369253685
NM_000069.3(CACNA1S):c.5506C>A (p.Arg1836=) rs926000507
NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln) rs368214163
NM_000069.3(CACNA1S):c.5510A>G (p.Glu1837Gly) rs200765341
NM_000069.3(CACNA1S):c.5514C>T (p.Ala1838=)
NM_000069.3(CACNA1S):c.5520G>A (p.Glu1840=) rs1042379
NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn) rs145195149
NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)
NM_000069.3(CACNA1S):c.5534C>T (p.Ser1845Phe) rs2102535354
NM_000069.3(CACNA1S):c.5543G>A (p.Cys1848Tyr)
NM_000069.3(CACNA1S):c.5550C>T (p.Asn1850=)
NM_000069.3(CACNA1S):c.5553C>T (p.Leu1851=)
NM_000069.3(CACNA1S):c.5558C>T (p.Ser1853Phe)
NM_000069.3(CACNA1S):c.5563C>T (p.Leu1855=)
NM_000069.3(CACNA1S):c.5565G>A (p.Leu1855=)
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=) rs756090938
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
NM_000069.3(CACNA1S):c.5583C>G (p.His1861Gln) rs764110964
NM_000069.3(CACNA1S):c.5587G>A (p.Gly1863Ser)
NM_000069.3(CACNA1S):c.5593del (p.Gln1865fs) rs139276856
NM_000069.3(CACNA1S):c.5595_5600del (p.Gln1865_Thr1867delinsHis)
NM_000069.3(CACNA1S):c.5606T>C (p.Ile1869Thr) rs1660054479
NM_000069.3(CACNA1S):c.5611C>T (p.Pro1871Ser)
NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu) rs1553247246
NM_000069.3(CACNA1S):c.5621G>T (p.Ter1874Leu) rs1453298040
NM_000069.3(CACNA1S):c.564del (p.Ile189fs) rs1553252746
NM_000069.3(CACNA1S):c.565A>T (p.Ile189Phe)
NM_000069.3(CACNA1S):c.574_575del (p.Ala192fs)
NM_000069.3(CACNA1S):c.579G>T (p.Met193Ile)
NM_000069.3(CACNA1S):c.57A>C (p.Pro19=)
NM_000069.3(CACNA1S):c.580C>T (p.Leu194Phe)
NM_000069.3(CACNA1S):c.582C>T (p.Leu194=) rs1333426227
NM_000069.3(CACNA1S):c.586C>T (p.Leu196Phe) rs1402361054
NM_000069.3(CACNA1S):c.58G>A (p.Val20Ile)
NM_000069.3(CACNA1S):c.599C>A (p.Ala200Asp)
NM_000069.3(CACNA1S):c.600C>T (p.Ala200=)
NM_000069.3(CACNA1S):c.606G>C (p.Leu202=)
NM_000069.3(CACNA1S):c.609C>G (p.Val203=)
NM_000069.3(CACNA1S):c.609C>T (p.Val203=) rs1477834243
NM_000069.3(CACNA1S):c.60T>A (p.Val20=) rs2102194007
NM_000069.3(CACNA1S):c.610C>G (p.Leu204Val) rs753823016
NM_000069.3(CACNA1S):c.612C>G (p.Leu204=)
NM_000069.3(CACNA1S):c.618G>A (p.Met206Ile)
NM_000069.3(CACNA1S):c.629dup (p.Tyr210Ter)
NM_000069.3(CACNA1S):c.630T>C (p.Tyr210=)
NM_000069.3(CACNA1S):c.632C>T (p.Ala211Val) rs763260505
NM_000069.3(CACNA1S):c.639C>T (p.Ile213=) rs1229722414
NM_000069.3(CACNA1S):c.63T>C (p.Pro21=)
NM_000069.3(CACNA1S):c.642G>C (p.Gly214=)
NM_000069.3(CACNA1S):c.646G>A (p.Glu216Lys)
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=) rs200633947
NM_000069.3(CACNA1S):c.663G>A (p.Lys221=)
NM_000069.3(CACNA1S):c.663G>C (p.Lys221Asn) rs1662237951
NM_000069.3(CACNA1S):c.671A>G (p.Lys224Arg)
NM_000069.3(CACNA1S):c.67A>G (p.Ile23Val)
NM_000069.3(CACNA1S):c.685A>G (p.Ile229Val) rs1662236680
NM_000069.3(CACNA1S):c.689G>A (p.Gly230Asp)
NM_000069.3(CACNA1S):c.694+10del rs2102163766
NM_000069.3(CACNA1S):c.694+8C>A
NM_000069.3(CACNA1S):c.695-11T>C
NM_000069.3(CACNA1S):c.695-12T>C
NM_000069.3(CACNA1S):c.695-13C>A rs1434711051
NM_000069.3(CACNA1S):c.695-14C>T rs1262968798
NM_000069.3(CACNA1S):c.695-6del rs748832613
NM_000069.3(CACNA1S):c.699C>A (p.Ile233=) rs756008578
NM_000069.3(CACNA1S):c.69T>C (p.Ile23=)
NM_000069.3(CACNA1S):c.705C>G (p.Ala235=)
NM_000069.3(CACNA1S):c.708G>A (p.Thr236=)
NM_000069.3(CACNA1S):c.718G>A (p.Glu240Lys)
NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu)
NM_000069.3(CACNA1S):c.730C>T (p.Pro244Ser) rs2102160639
NM_000069.3(CACNA1S):c.732del (p.Cys245fs) rs1558079311
NM_000069.3(CACNA1S):c.738C>G (p.Ala246=)
NM_000069.3(CACNA1S):c.744G>A (p.Thr248=)
NM_000069.3(CACNA1S):c.744G>C (p.Thr248=) rs373609219
NM_000069.3(CACNA1S):c.750A>C (p.Ser250=)
NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys)
NM_000069.3(CACNA1S):c.756C>T (p.Arg252=)
NM_000069.3(CACNA1S):c.756_758dup (p.Arg253_Cys254insArg)
NM_000069.3(CACNA1S):c.762C>T (p.Cys254=) rs1232779475
NM_000069.3(CACNA1S):c.765C>T (p.Thr255=)
NM_000069.3(CACNA1S):c.768C>T (p.Ile256=) rs2102160511
NM_000069.3(CACNA1S):c.770A>G (p.Asn257Ser)
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.774C>T (p.Gly258=) rs2102160480
NM_000069.3(CACNA1S):c.783C>T (p.Cys261=)
NM_000069.3(CACNA1S):c.786G>C (p.Arg262=)
NM_000069.3(CACNA1S):c.787G>A (p.Gly263Ser)
NM_000069.3(CACNA1S):c.789C>T (p.Gly263=) rs368173398
NM_000069.3(CACNA1S):c.78G>A (p.Arg26=) rs1663154229
NM_000069.3(CACNA1S):c.78del (p.Arg26fs) rs2102193989
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)
NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)
NM_000069.3(CACNA1S):c.818C>T (p.Thr273Ile) rs2102160364
NM_000069.3(CACNA1S):c.819C>T (p.Thr273=) rs2102160359
NM_000069.3(CACNA1S):c.81A>G (p.Pro27=)
NM_000069.3(CACNA1S):c.81A>T (p.Pro27=)
NM_000069.3(CACNA1S):c.825C>T (p.Phe275=)
NM_000069.3(CACNA1S):c.82C>A (p.Pro28Thr) rs1297380219
NM_000069.3(CACNA1S):c.831C>T (p.Asn277=) rs2102160322
NM_000069.3(CACNA1S):c.836G>A (p.Gly279Asp) rs868243518
NM_000069.3(CACNA1S):c.844A>G (p.Met282Val)
NM_000069.3(CACNA1S):c.853G>A (p.Val285Met)
NM_000069.3(CACNA1S):c.853G>C (p.Val285Leu)
NM_000069.3(CACNA1S):c.858_860dup (p.Tyr286_Gln287insHis) rs2102160234
NM_000069.3(CACNA1S):c.85C>G (p.Arg29Gly) rs577022740
NM_000069.3(CACNA1S):c.85del (p.Arg29fs) rs2102193959
NM_000069.3(CACNA1S):c.867T>C (p.Ile289=) rs1572059982
NM_000069.3(CACNA1S):c.871A>G (p.Met291Val)
NM_000069.3(CACNA1S):c.877G>A (p.Gly293Arg)
NM_000069.3(CACNA1S):c.879A>G (p.Gly293=)
NM_000069.3(CACNA1S):c.884C>A (p.Thr295Asn) rs2102160120
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) rs1572059904
NM_000069.3(CACNA1S):c.900+11G>A
NM_000069.3(CACNA1S):c.900+15G>A
NM_000069.3(CACNA1S):c.900+18C>A
NM_000069.3(CACNA1S):c.900+19C>T
NM_000069.3(CACNA1S):c.900+5G>A
NM_000069.3(CACNA1S):c.900+9G>T
NM_000069.3(CACNA1S):c.901-10T>C rs2102158289
NM_000069.3(CACNA1S):c.901-15T>C
NM_000069.3(CACNA1S):c.901-16C>T
NM_000069.3(CACNA1S):c.901-19A>C
NM_000069.3(CACNA1S):c.911C>G (p.Ala304Gly)
NM_000069.3(CACNA1S):c.912C>T (p.Ala304=)
NM_000069.3(CACNA1S):c.916G>A (p.Gly306Arg)
NM_000069.3(CACNA1S):c.916G>T (p.Gly306Trp) rs1484525295
NM_000069.3(CACNA1S):c.91T>C (p.Leu31=) rs2102193927
NM_000069.3(CACNA1S):c.930C>T (p.Pro310=) rs1662091024
NM_000069.3(CACNA1S):c.945C>A (p.Val315=)
NM_000069.3(CACNA1S):c.945C>T (p.Val315=)
NM_000069.3(CACNA1S):c.948C>T (p.Thr316=)
NM_000069.3(CACNA1S):c.951C>A (p.Leu317=) rs773209639
NM_000069.3(CACNA1S):c.955T>C (p.Leu319=)
NM_000069.3(CACNA1S):c.963A>G (p.Gly321=)
NM_000069.3(CACNA1S):c.975C>T (p.Ile325=) rs1572058858
NM_000069.3(CACNA1S):c.978C>T (p.Leu326=) rs2102158094
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309
NM_000069.3(CACNA1S):c.983T>C (p.Leu328Pro)
NM_000069.3(CACNA1S):c.988C>T (p.Leu330=)
NM_000069.3(CACNA1S):c.9A>T (p.Pro3=) rs765855755
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1004C>T (p.Thr335Ile)
NM_000083.3(CLCN1):c.1005C>A (p.Thr335=) rs1802715432
NM_000083.3(CLCN1):c.1006A>G (p.Asn336Asp) rs2116852905
NM_000083.3(CLCN1):c.1007A>G (p.Asn336Ser)
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1031A>G (p.Asp344Gly)
NM_000083.3(CLCN1):c.1032C>T (p.Asp344=) rs1802716501
NM_000083.3(CLCN1):c.1033C>T (p.Leu345=)
NM_000083.3(CLCN1):c.1038_1039del (p.Glu347fs)
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1046C>G (p.Pro349Arg)
NM_000083.3(CLCN1):c.105G>C (p.Leu35=)
NM_000083.3(CLCN1):c.1064+10G>T
NM_000083.3(CLCN1):c.1064+17G>C
NM_000083.3(CLCN1):c.1064+19T>C
NM_000083.3(CLCN1):c.1064+20C>G
NM_000083.3(CLCN1):c.1064+2T>C
NM_000083.3(CLCN1):c.1064+6del rs1482886131
NM_000083.3(CLCN1):c.1065-12T>C
NM_000083.3(CLCN1):c.1065-13dup rs2116853321
NM_000083.3(CLCN1):c.1065-15A>G
NM_000083.3(CLCN1):c.1065-17A>C
NM_000083.3(CLCN1):c.1065-7C>T
NM_000083.3(CLCN1):c.1079T>G (p.Leu360Arg)
NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)
NM_000083.3(CLCN1):c.1080C>T (p.Leu360=)
NM_000083.3(CLCN1):c.1081C>T (p.Leu361=)
NM_000083.3(CLCN1):c.1083G>C (p.Leu361=)
NM_000083.3(CLCN1):c.1086A>T (p.Gly362=)
NM_000083.3(CLCN1):c.108C>G (p.Pro36=)
NM_000083.3(CLCN1):c.108C>T (p.Pro36=) rs749833088
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1092A>G (p.Val364=)
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1111del (p.Gln371fs)
NM_000083.3(CLCN1):c.1114G>A (p.Val372Ile)
NM_000083.3(CLCN1):c.1116C>T (p.Val372=)
NM_000083.3(CLCN1):c.1128C>G (p.Val376=)
NM_000083.3(CLCN1):c.1130G>A (p.Arg377Gln)
NM_000083.3(CLCN1):c.1131A>G (p.Arg377=)
NM_000083.3(CLCN1):c.1134G>A (p.Lys378=)
NM_000083.3(CLCN1):c.1147A>G (p.Ser383Gly)
NM_000083.3(CLCN1):c.1149C>T (p.Ser383=)
NM_000083.3(CLCN1):c.1158T>G (p.Leu386=)
NM_000083.3(CLCN1):c.1166+10T>A
NM_000083.3(CLCN1):c.1166+10T>C
NM_000083.3(CLCN1):c.1166+15T>G
NM_000083.3(CLCN1):c.1166+17C>G
NM_000083.3(CLCN1):c.1166+19T>C
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1167-14dup
NM_000083.3(CLCN1):c.1167-15C>T
NM_000083.3(CLCN1):c.1167-16T>G
NM_000083.3(CLCN1):c.1167-9C>A rs770515905
NM_000083.3(CLCN1):c.1169G>A (p.Arg390His)
NM_000083.3(CLCN1):c.1169G>T (p.Arg390Leu)
NM_000083.3(CLCN1):c.1173G>A (p.Leu391=)
NM_000083.3(CLCN1):c.1176G>A (p.Leu392=) rs199898178
NM_000083.3(CLCN1):c.1176G>C (p.Leu392=)
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter)
NM_000083.3(CLCN1):c.1182T>C (p.Pro394=)
NM_000083.3(CLCN1):c.1185A>G (p.Gly395=)
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp) rs368958317
NM_000083.3(CLCN1):c.1192A>G (p.Thr398Ala)
NM_000083.3(CLCN1):c.1195T>C (p.Phe399Leu)
NM_000083.3(CLCN1):c.1206C>T (p.Ala402=)
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
NM_000083.3(CLCN1):c.120G>A (p.Gly40=)
NM_000083.3(CLCN1):c.1215C>T (p.Thr405=)
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu) rs1802752292
NM_000083.3(CLCN1):c.1227A>T (p.Gly409=)
NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)
NM_000083.3(CLCN1):c.1230G>A (p.Met410Ile)
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1233T>C (p.Gly411=)
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) rs2116854694
NM_000083.3(CLCN1):c.1243G>A (p.Ala415Thr) rs1023099235
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val)
NM_000083.3(CLCN1):c.1246G>A (p.Gly416Arg)
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1251+12G>T
NM_000083.3(CLCN1):c.1251+14G>A rs1027351084
NM_000083.3(CLCN1):c.1251+17G>A
NM_000083.3(CLCN1):c.1251+5G>A rs1802753836
NM_000083.3(CLCN1):c.1251+9T>C
NM_000083.3(CLCN1):c.1252-10C>T
NM_000083.3(CLCN1):c.1252-1G>T
NM_000083.3(CLCN1):c.1252-7C>T
NM_000083.3(CLCN1):c.1254G>T (p.Leu418Phe)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1263C>G (p.Arg421=)
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
NM_000083.3(CLCN1):c.1269dup (p.Ile424fs) rs2116855121
NM_000083.3(CLCN1):c.1276A>C (p.Thr426Pro) rs749846585
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)
NM_000083.3(CLCN1):c.1280del (p.Leu427fs)
NM_000083.3(CLCN1):c.1281del (p.Leu427fs) rs2116855161
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000083.3(CLCN1):c.1286A>G (p.Asp429Gly) rs1001314584
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) rs868831424
NM_000083.3(CLCN1):c.1290C>T (p.Asn430=)
NM_000083.3(CLCN1):c.1296A>G (p.Thr432=)
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) rs1486868849
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) rs1802763171
NM_000083.3(CLCN1):c.1310_1311del (p.Ala437fs)
NM_000083.3(CLCN1):c.1314T>G (p.Gly438=)
NM_000083.3(CLCN1):c.1327C>G (p.Leu443Val)
NM_000083.3(CLCN1):c.1329G>A (p.Leu443=)
NM_000083.3(CLCN1):c.132C>T (p.His44=) rs2116829588
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
NM_000083.3(CLCN1):c.1342G>C (p.Val448Leu)
NM_000083.3(CLCN1):c.1347del (p.Val448_Trp449insTer)
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321
NM_000083.3(CLCN1):c.1353C>A (p.His451Gln)
NM_000083.3(CLCN1):c.1353C>T (p.His451=)
NM_000083.3(CLCN1):c.1354C>T (p.Pro452Ser) rs1416813045
NM_000083.3(CLCN1):c.1357del (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1359G>A (p.Arg453=)
NM_000083.3(CLCN1):c.1359G>T (p.Arg453=)
NM_000083.3(CLCN1):c.135G>A (p.Arg45=)
NM_000083.3(CLCN1):c.1365C>T (p.Asn455=)
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1400A>G (p.Lys467Arg)
NM_000083.3(CLCN1):c.1401+11T>G
NM_000083.3(CLCN1):c.1401+19_1401+20insTG
NM_000083.3(CLCN1):c.1401+1G>A rs769861892
NM_000083.3(CLCN1):c.1401+20C>A
NM_000083.3(CLCN1):c.1401+20C>T
NM_000083.3(CLCN1):c.1401+7_1401+12dup
NM_000083.3(CLCN1):c.1401+9C>T
NM_000083.3(CLCN1):c.1401G>A (p.Lys467=) rs2116855428
NM_000083.3(CLCN1):c.1402-16C>T
NM_000083.3(CLCN1):c.1402-17G>A
NM_000083.3(CLCN1):c.1402-19A>G
NM_000083.3(CLCN1):c.1402-4C>A
NM_000083.3(CLCN1):c.1402-9_1402-8delinsTC rs2116864660
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter)
NM_000083.3(CLCN1):c.1409T>A (p.Met470Lys)
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
NM_000083.3(CLCN1):c.1417G>A (p.Val473Met)
NM_000083.3(CLCN1):c.1424C>T (p.Thr475Ile)
NM_000083.3(CLCN1):c.1426A>G (p.Thr476Ala)
NM_000083.3(CLCN1):c.1428T>C (p.Thr476=)
NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)
NM_000083.3(CLCN1):c.1434C>A (p.Pro478=)
NM_000083.3(CLCN1):c.1434C>T (p.Pro478=)
NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)
NM_000083.3(CLCN1):c.1436T>C (p.Ile479Thr) rs1803011827
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His) rs80356694
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1447G>A (p.Gly483Ser)
NM_000083.3(CLCN1):c.1449C>T (p.Gly483=) rs2116864808
NM_000083.3(CLCN1):c.144G>A (p.Lys48=) rs560922211
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
NM_000083.3(CLCN1):c.1461G>A (p.Val487=)
NM_000083.3(CLCN1):c.1471+11A>T
NM_000083.3(CLCN1):c.1471+13G>A
NM_000083.3(CLCN1):c.1471+14G>A
NM_000083.3(CLCN1):c.1471+15G>A
NM_000083.3(CLCN1):c.1471+15G>T
NM_000083.3(CLCN1):c.1471+17A>G
NM_000083.3(CLCN1):c.1471+1G>T
NM_000083.3(CLCN1):c.1471+20C>T
NM_000083.3(CLCN1):c.1471+2del rs2116864878
NM_000083.3(CLCN1):c.1471G>C (p.Gly491Arg)
NM_000083.3(CLCN1):c.1472-14T>C
NM_000083.3(CLCN1):c.1472-18C>T
NM_000083.3(CLCN1):c.1472-19C>T
NM_000083.3(CLCN1):c.1472-2A>G rs2116865174
NM_000083.3(CLCN1):c.1472-6C>T rs1380393304
NM_000083.3(CLCN1):c.1472-8C>A
NM_000083.3(CLCN1):c.1476T>C (p.Ala492=)
NM_000083.3(CLCN1):c.147T>C (p.Asp49=) rs1586479527
NM_000083.3(CLCN1):c.1482T>C (p.Phe494=) rs745690349
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) rs1586507943
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) rs121912807
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu) rs1803022284
NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)
NM_000083.3(CLCN1):c.1500A>G (p.Glu500=)
NM_000083.3(CLCN1):c.1506G>T (p.Met502Ile)
NM_000083.3(CLCN1):c.1509C>T (p.Ala503=)
NM_000083.3(CLCN1):c.1510A>G (p.Met504Val) rs1803022969
NM_000083.3(CLCN1):c.1515C>G (p.Leu505=)
NM_000083.3(CLCN1):c.1515C>T (p.Leu505=) rs1285977938
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) rs1271778777
NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)
NM_000083.3(CLCN1):c.1525G>A (p.Gly509Ser)
NM_000083.3(CLCN1):c.1530T>C (p.Ile510=)
NM_000083.3(CLCN1):c.1536T>C (p.Phe512=)
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn) rs756490905
NM_000083.3(CLCN1):c.1545C>T (p.Ile515=)
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala) rs1802292476
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)
NM_000083.3(CLCN1):c.1562_1563del (p.Pro521fs)
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1572T>C (p.Tyr524=)
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=) rs1332372122
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr) rs1319653705
NM_000083.3(CLCN1):c.1582+11T>G
NM_000083.3(CLCN1):c.1582+12T>A
NM_000083.3(CLCN1):c.1582+14C>A
NM_000083.3(CLCN1):c.1582+17C>T
NM_000083.3(CLCN1):c.1582+1G>A
NM_000083.3(CLCN1):c.1582+7A>T rs1586508119
NM_000083.3(CLCN1):c.1583-10G>A
NM_000083.3(CLCN1):c.1583-12G>C
NM_000083.3(CLCN1):c.1583-13T>A
NM_000083.3(CLCN1):c.1583-15C>A
NM_000083.3(CLCN1):c.1588G>A (p.Ala530Thr)
NM_000083.3(CLCN1):c.158G>A (p.Arg53His)
NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)
NM_000083.3(CLCN1):c.15G>T (p.Arg5=)
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val) rs752814433
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1641C>T (p.Phe547=)
NM_000083.3(CLCN1):c.1642G>T (p.Glu548Ter)
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) rs1563084597
NM_000083.3(CLCN1):c.1647A>G (p.Leu549=)
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)
NM_000083.3(CLCN1):c.1657A>T (p.Ile553Phe)
NM_000083.3(CLCN1):c.1662T>C (p.Ala554=)
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.168C>T (p.Val56=) rs2116829709
NM_000083.3(CLCN1):c.1691T>C (p.Ile564Thr)
NM_000083.3(CLCN1):c.1695G>A (p.Leu565=)
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1698C>T (p.Ala566=)
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys) rs779726850
NM_000083.3(CLCN1):c.1701C>T (p.Asn567=)
NM_000083.3(CLCN1):c.1707G>A (p.Val569=)
NM_000083.3(CLCN1):c.1707G>T (p.Val569=)
NM_000083.3(CLCN1):c.1717C>T (p.Leu573=)
NM_000083.3(CLCN1):c.1719G>T (p.Leu573=)
NM_000083.3(CLCN1):c.1722G>A (p.Gln574=)
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
NM_000083.3(CLCN1):c.1727C>T (p.Ser576Phe) rs143825889
NM_000083.3(CLCN1):c.1731C>G (p.Leu577=)
NM_000083.3(CLCN1):c.1734T>C (p.Tyr578=)
NM_000083.3(CLCN1):c.1740C>T (p.Ser580=)
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu) rs1803094547
NM_000083.3(CLCN1):c.1746C>A (p.Ile582=)
NM_000083.3(CLCN1):c.174C>G (p.Pro58=) rs1586479588
NM_000083.3(CLCN1):c.174del (p.Thr59fs)
NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)
NM_000083.3(CLCN1):c.1770G>A (p.Leu590=)
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
NM_000083.3(CLCN1):c.1779T>C (p.Leu593=)
NM_000083.3(CLCN1):c.177A>G (p.Thr59=) rs1586479596
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) rs1586510870
NM_000083.3(CLCN1):c.1788C>T (p.Asn596=)
NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs) rs2116373517
NM_000083.3(CLCN1):c.1796+15A>G
NM_000083.3(CLCN1):c.1796+16C>T
NM_000083.3(CLCN1):c.1796+17G>A
NM_000083.3(CLCN1):c.1796+1G>A
NM_000083.3(CLCN1):c.1796+7G>A
NM_000083.3(CLCN1):c.1796+7G>C
NM_000083.3(CLCN1):c.1796+8G>A
NM_000083.3(CLCN1):c.1796+8G>T
NM_000083.3(CLCN1):c.1797-14T>C
NM_000083.3(CLCN1):c.1797-18T>C
NM_000083.3(CLCN1):c.1797-19A>G
NM_000083.3(CLCN1):c.1797-20C>G
NM_000083.3(CLCN1):c.180+12T>C
NM_000083.3(CLCN1):c.180+18G>A
NM_000083.3(CLCN1):c.180+18G>C
NM_000083.3(CLCN1):c.180+1G>A
NM_000083.3(CLCN1):c.180+4A>G rs2116829759
NM_000083.3(CLCN1):c.180+8G>T
NM_000083.3(CLCN1):c.1800A>G (p.Lys600=)
NM_000083.3(CLCN1):c.1805C>A (p.Thr602Asn)
NM_000083.3(CLCN1):c.1806C>T (p.Thr602=) rs767752623
NM_000083.3(CLCN1):c.181-12C>G
NM_000083.3(CLCN1):c.181-14C>G
NM_000083.3(CLCN1):c.181-2A>G rs1802376231
NM_000083.3(CLCN1):c.1812T>C (p.Phe604=)
NM_000083.3(CLCN1):c.1818G>A (p.Glu606=) rs1803105117
NM_000083.3(CLCN1):c.181A>C (p.Ile61Leu)
NM_000083.3(CLCN1):c.1825A>C (p.Met609Leu)
NM_000083.3(CLCN1):c.1827G>T (p.Met609Ile)
NM_000083.3(CLCN1):c.1836T>C (p.Asp612=)
NM_000083.3(CLCN1):c.1839G>C (p.Val613=)
NM_000083.3(CLCN1):c.1849del (p.Ser617fs)
NM_000083.3(CLCN1):c.1868G>C (p.Gly623Ala)
NM_000083.3(CLCN1):c.1869G>A (p.Gly623=)
NM_000083.3(CLCN1):c.1870G>A (p.Glu624Lys)
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.1877G>A (p.Arg626Gln)
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.187G>A (p.Gly63Ser)
NM_000083.3(CLCN1):c.1881C>A (p.Thr627=)
NM_000083.3(CLCN1):c.1883T>C (p.Leu628Pro)
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.1887C>A (p.Leu629=)
NM_000083.3(CLCN1):c.1897A>G (p.Thr633Ala)
NM_000083.3(CLCN1):c.1898C>T (p.Thr633Ile)
NM_000083.3(CLCN1):c.189C>A (p.Gly63=) rs2116834513
NM_000083.3(CLCN1):c.18A>G (p.Ser6=)
NM_000083.3(CLCN1):c.1902C>G (p.Val634=)
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1909T>C (p.Leu637=)
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) rs1237554305
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) rs2116374801
NM_000083.3(CLCN1):c.1918del (p.Val640fs) rs1554438574
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1923C>T (p.Asp641=)
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.1930+15A>G
NM_000083.3(CLCN1):c.1930+16G>A
NM_000083.3(CLCN1):c.1930+7G>A
NM_000083.3(CLCN1):c.1930+8G>A
NM_000083.3(CLCN1):c.1931-16C>T
NM_000083.3(CLCN1):c.1931-1G>A
NM_000083.3(CLCN1):c.1931-1G>C rs2116383424
NM_000083.3(CLCN1):c.1931-20A>C
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>G (p.Met646Val)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.1937T>C (p.Met646Thr)
NM_000083.3(CLCN1):c.1938G>A (p.Met646Ile)
NM_000083.3(CLCN1):c.193C>G (p.His65Asp)
NM_000083.3(CLCN1):c.1942C>T (p.Leu648=)
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1960C>A (p.Arg654=)
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1962G>A (p.Arg654=)
NM_000083.3(CLCN1):c.1965G>A (p.Ser655=) rs1445646671
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
NM_000083.3(CLCN1):c.1980C>T (p.Leu660=)
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
NM_000083.3(CLCN1):c.198del (p.Glu67fs)
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter)
NM_000083.3(CLCN1):c.2005C>A (p.Arg669Ser) rs748537564
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2007C>G (p.Arg669=) rs2116383865
NM_000083.3(CLCN1):c.2007C>T (p.Arg669=)
NM_000083.3(CLCN1):c.200_215del (p.Glu67fs) rs2116834548
NM_000083.3(CLCN1):c.2013G>A (p.Leu671=)
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.2045del (p.Ser682fs) rs2116384132
NM_000083.3(CLCN1):c.2046G>C (p.Ser682=) rs1803216040
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.204A>G (p.Gln68=) rs1802376686
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2052G>A (p.Leu684=)
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2058C>T (p.Tyr686=)
NM_000083.3(CLCN1):c.2059G>C (p.Asp687His)
NM_000083.3(CLCN1):c.2061C>A (p.Asp687Glu)
NM_000083.3(CLCN1):c.2061C>T (p.Asp687=)
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) rs1563087092
NM_000083.3(CLCN1):c.207C>T (p.Phe69=)
NM_000083.3(CLCN1):c.2082G>A (p.Gly694=)
NM_000083.3(CLCN1):c.2082G>T (p.Gly694=)
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2091C>T (p.Leu697=)
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)
NM_000083.3(CLCN1):c.2094C>T (p.Pro698=) rs758874120
NM_000083.3(CLCN1):c.2097C>A (p.Gly699=)
NM_000083.3(CLCN1):c.2097C>G (p.Gly699=) rs778181599
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.209C>A (p.Ser70Ter)
NM_000083.3(CLCN1):c.2100G>T (p.Ala700=)
NM_000083.3(CLCN1):c.2106A>G (p.Pro702=)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)
NM_000083.3(CLCN1):c.2115C>G (p.Pro705=)
NM_000083.3(CLCN1):c.2124C>A (p.Phe708Leu)
NM_000083.3(CLCN1):c.2131G>C (p.Val711Leu) rs2116384678
NM_000083.3(CLCN1):c.2136TGAGGA[3] (p.713ED[4]) rs776429032
NM_000083.3(CLCN1):c.2148dup (p.Glu717fs) rs2116384782
NM_000083.3(CLCN1):c.2149G>A (p.Glu717Lys)
NM_000083.3(CLCN1):c.2149del (p.Glu717fs)
NM_000083.3(CLCN1):c.214A>G (p.Arg72Gly) rs1219415384
NM_000083.3(CLCN1):c.2155C>G (p.Leu719Val)
NM_000083.3(CLCN1):c.2160T>C (p.Ser720=)
NM_000083.3(CLCN1):c.2161G>A (p.Gly721Ser) rs1300665013
NM_000083.3(CLCN1):c.2166G>A (p.Lys722=)
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) rs1803225186
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000083.3(CLCN1):c.2172+1G>C
NM_000083.3(CLCN1):c.2172+6C>G
NM_000083.3(CLCN1):c.2172+8_2172+9insA
NM_000083.3(CLCN1):c.2172+9G>A
NM_000083.3(CLCN1):c.2173-14dup
NM_000083.3(CLCN1):c.2173-15T>A
NM_000083.3(CLCN1):c.2173-16T>C
NM_000083.3(CLCN1):c.2173-17C>T
NM_000083.3(CLCN1):c.2173-3C>G rs1169171168
NM_000083.3(CLCN1):c.2173-5T>G
NM_000083.3(CLCN1):c.2192T>G (p.Leu731Arg)
NM_000083.3(CLCN1):c.2193C>T (p.Leu731=)
NM_000083.3(CLCN1):c.219G>A (p.Glu73=)
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala) rs539404339
NM_000083.3(CLCN1):c.2203_2216del (p.Thr735fs)
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile) rs1803237753
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) rs1554434400
NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) rs1803238026
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
NM_000083.3(CLCN1):c.2238G>C (p.Gly746=)
NM_000083.3(CLCN1):c.2242C>T (p.Leu748=) rs1803240251
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val) rs1586483060
NM_000083.3(CLCN1):c.2250C>G (p.Gly750=)
NM_000083.3(CLCN1):c.2255A>G (p.Lys752Arg) rs2116386398
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2271_2272del (p.Pro758fs)
NM_000083.3(CLCN1):c.2279C>A (p.Pro760His)
NM_000083.3(CLCN1):c.2282C>A (p.Ala761Glu)
NM_000083.3(CLCN1):c.2284+12C>G rs1472307602
NM_000083.3(CLCN1):c.2284+12C>T
NM_000083.3(CLCN1):c.2284+15T>C
NM_000083.3(CLCN1):c.2284+17A>G
NM_000083.3(CLCN1):c.2284+1G>A
NM_000083.3(CLCN1):c.2284+6G>A
NM_000083.3(CLCN1):c.2284+7C>G
NM_000083.3(CLCN1):c.2285-10G>A
NM_000083.3(CLCN1):c.2285-13C>T
NM_000083.3(CLCN1):c.2285-15C>A rs758496771
NM_000083.3(CLCN1):c.2285-18A>G
NM_000083.3(CLCN1):c.2285-1G>C rs1222525763
NM_000083.3(CLCN1):c.2285-5C>G
NM_000083.3(CLCN1):c.2285-5C>T
NM_000083.3(CLCN1):c.2285-7C>T
NM_000083.3(CLCN1):c.2285-8C>T
NM_000083.3(CLCN1):c.228A>C (p.Ile76=)
NM_000083.3(CLCN1):c.2295C>T (p.Pro765=) rs370616385
NM_000083.3(CLCN1):c.2300T>G (p.Ile767Ser)
NM_000083.3(CLCN1):c.2304C>T (p.Phe768=)
NM_000083.3(CLCN1):c.2328G>T (p.Leu776=)
NM_000083.3(CLCN1):c.2329G>C (p.Gly777Arg) rs2116387531
NM_000083.3(CLCN1):c.2330G>T (p.Gly777Val) rs1803256620
NM_000083.3(CLCN1):c.2339G>T (p.Arg780Leu) rs529481237
NM_000083.3(CLCN1):c.2343del (p.Thr782fs)
NM_000083.3(CLCN1):c.235C>T (p.Pro79Ser)
NM_000083.3(CLCN1):c.2361C>T (p.Thr787=)
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter)
NM_000083.3(CLCN1):c.2364+13G>A
NM_000083.3(CLCN1):c.2364+13G>T
NM_000083.3(CLCN1):c.2364+20G>A
NM_000083.3(CLCN1):c.2364+7G>C
NM_000083.3(CLCN1):c.2364+8G>A
NM_000083.3(CLCN1):c.2365-12T>C
NM_000083.3(CLCN1):c.2365-14T>C
NM_000083.3(CLCN1):c.2365-1G>A
NM_000083.3(CLCN1):c.2365-20C>T
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu) rs1803265479
NM_000083.3(CLCN1):c.237C>T (p.Pro79=)
NM_000083.3(CLCN1):c.2388C>T (p.Asn796=) rs1586517500
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2403+14A>C
NM_000083.3(CLCN1):c.2403+1G>A
NM_000083.3(CLCN1):c.2403+3G>A
NM_000083.3(CLCN1):c.2403+4A>G
NM_000083.3(CLCN1):c.2404-14C>A
NM_000083.3(CLCN1):c.2404-7C>T rs2116396569
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2409G>A (p.Glu803=)
NM_000083.3(CLCN1):c.2418G>A (p.Glu806=)
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2431A>C (p.Ser811Arg) rs2116396688
NM_000083.3(CLCN1):c.2433C>T (p.Ser811=)
NM_000083.3(CLCN1):c.2437C>T (p.Pro813Ser)
NM_000083.3(CLCN1):c.2439T>C (p.Pro813=)
NM_000083.3(CLCN1):c.2442C>T (p.Val814=)
NM_000083.3(CLCN1):c.2448T>C (p.Phe816=)
NM_000083.3(CLCN1):c.2453C>A (p.Ser818Tyr)
NM_000083.3(CLCN1):c.245C>T (p.Thr82Ile) rs2116834657
NM_000083.3(CLCN1):c.2460T>C (p.Cys820=)
NM_000083.3(CLCN1):c.2461A>C (p.Ile821Leu)
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
NM_000083.3(CLCN1):c.2463T>C (p.Ile821=)
NM_000083.3(CLCN1):c.2464G>A (p.Asp822Asn)
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2467C>T (p.Gln823Ter)
NM_000083.3(CLCN1):c.2469G>A (p.Gln823=)
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr) rs1803362038
NM_000083.3(CLCN1):c.2479C>T (p.Gln827Ter)
NM_000083.3(CLCN1):c.2491C>G (p.Gln831Glu)
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile) rs755343536
NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)
NM_000083.3(CLCN1):c.2499C>G (p.Thr833=)
NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr) rs2116397081
NM_000083.3(CLCN1):c.2505C>G (p.His835Gln)
NM_000083.3(CLCN1):c.2508+11T>G rs1391949112
NM_000083.3(CLCN1):c.2508+12G>A
NM_000083.3(CLCN1):c.2508+12G>C
NM_000083.3(CLCN1):c.2508+1G>A
NM_000083.3(CLCN1):c.2508+20C>T
NM_000083.3(CLCN1):c.2508+5G>A rs1401007697
NM_000083.3(CLCN1):c.2508+7del
NM_000083.3(CLCN1):c.2509-19C>G
NM_000083.3(CLCN1):c.2509-2A>C
NM_000083.3(CLCN1):c.2509-9C>T
NM_000083.3(CLCN1):c.2517C>G (p.Thr839=)
NM_000083.3(CLCN1):c.2518C>A (p.Leu840Met)
NM_000083.3(CLCN1):c.2519T>G (p.Leu840Arg)
NM_000083.3(CLCN1):c.2524del (p.Ser842fs)
NM_000083.3(CLCN1):c.2526A>G (p.Ser842=)
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.2531T>C (p.Leu844Pro) rs2116397538
NM_000083.3(CLCN1):c.2532T>C (p.Leu844=)
NM_000083.3(CLCN1):c.2535C>T (p.Gly845=) rs1803368206
NM_000083.3(CLCN1):c.2538C>T (p.Leu846=)
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly) rs1193157349
NM_000083.3(CLCN1):c.2542C>G (p.Leu848Val)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2565G>A (p.Gly855=)
NM_000083.3(CLCN1):c.2565del (p.Lys856fs)
NM_000083.3(CLCN1):c.2571C>G (p.Leu857=)
NM_000083.3(CLCN1):c.2577C>A (p.Gly859=)
NM_000083.3(CLCN1):c.2577C>G (p.Gly859=)
NM_000083.3(CLCN1):c.2580C>A (p.Val860=)
NM_000083.3(CLCN1):c.2581del (p.Leu861fs) rs2116397821
NM_000083.3(CLCN1):c.2592G>A (p.Glu864=) rs2116397844
NM_000083.3(CLCN1):c.2595+10A>G
NM_000083.3(CLCN1):c.2595+14_2595+15del
NM_000083.3(CLCN1):c.2595+17C>A
NM_000083.3(CLCN1):c.2595+18C>T
NM_000083.3(CLCN1):c.2595+1G>A rs2116397860
NM_000083.3(CLCN1):c.2595+9G>A
NM_000083.3(CLCN1):c.2595G>A (p.Glu865=) rs2116397852
NM_000083.3(CLCN1):c.2596-11C>G rs2116400965
NM_000083.3(CLCN1):c.2596-16T>A
NM_000083.3(CLCN1):c.2596-4T>G rs2116401020
NM_000083.3(CLCN1):c.2596-7T>C rs2116401011
NM_000083.3(CLCN1):c.2596-8C>T
NM_000083.3(CLCN1):c.2596-9G>C rs200308662
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser)
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) rs745344072
NM_000083.3(CLCN1):c.2607C>T (p.Ala869=) rs2116401054
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr) rs1319094688
NM_000083.3(CLCN1):c.260C>T (p.Thr87Ile)
NM_000083.3(CLCN1):c.2610T>A (p.Ile870=)
NM_000083.3(CLCN1):c.2610T>C (p.Ile870=)
NM_000083.3(CLCN1):c.2612del (p.Glu871fs)
NM_000083.3(CLCN1):c.2617C>T (p.His873Tyr) rs2116401119
NM_000083.3(CLCN1):c.261C>A (p.Thr87=)
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
NM_000083.3(CLCN1):c.2622C>G (p.Thr874=)
NM_000083.3(CLCN1):c.2623A>G (p.Lys875Glu)
NM_000083.3(CLCN1):c.2625G>A (p.Lys875=) rs765869908
NM_000083.3(CLCN1):c.2636A>G (p.Gln879Arg)
NM_000083.3(CLCN1):c.2649C>T (p.Pro883=)
NM_000083.3(CLCN1):c.2652T>G (p.Leu884=) rs2116401321
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser) rs1803409136
NM_000083.3(CLCN1):c.2655dup (p.Ser886fs)
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
NM_000083.3(CLCN1):c.2662C>T (p.Arg888Trp)
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571
NM_000083.3(CLCN1):c.2670G>A (p.Thr890=)
NM_000083.3(CLCN1):c.2670G>T (p.Thr890=)
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter)
NM_000083.3(CLCN1):c.2680C>A (p.Arg894=) rs55960271
NM_000083.3(CLCN1):c.2683_2686del (p.Lys895fs)
NM_000083.3(CLCN1):c.2691C>T (p.Thr897=) rs777416660
NM_000083.3(CLCN1):c.2692G>A (p.Gly898Arg)
NM_000083.3(CLCN1):c.2695G>A (p.Ala899Thr)
NM_000083.3(CLCN1):c.26G>C (p.Arg9Pro)
NM_000083.3(CLCN1):c.2700T>A (p.Pro900=)
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro) rs1803412320
NM_000083.3(CLCN1):c.2730T>C (p.Pro910=)
NM_000083.3(CLCN1):c.273G>A (p.Lys91=)
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala) rs1803414359
NM_000083.3(CLCN1):c.2757A>G (p.Thr919=)
NM_000083.3(CLCN1):c.2765_2766del (p.Val922fs) rs1563091175
NM_000083.3(CLCN1):c.2772T>A (p.Ala924=)
NM_000083.3(CLCN1):c.2778C>A (p.Ser926=)
NM_000083.3(CLCN1):c.2778C>T (p.Ser926=)
NM_000083.3(CLCN1):c.277G>A (p.Glu93Lys)
NM_000083.3(CLCN1):c.2784_2785del (p.Glu928fs)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2796A>C (p.Pro932=)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2799T>G (p.Ser933=)
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro) rs1803417569
NM_000083.3(CLCN1):c.2804C>A (p.Ser935Tyr)
NM_000083.3(CLCN1):c.2805C>T (p.Ser935=) rs2116402077
NM_000083.3(CLCN1):c.2811G>T (p.Glu937Asp)
NM_000083.3(CLCN1):c.2812C>T (p.Pro938Ser)
NM_000083.3(CLCN1):c.2814C>T (p.Pro938=)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2821_2822del (p.Ser941fs)
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu) rs1226179201
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2835C>A (p.Gly945=)
NM_000083.3(CLCN1):c.2839G>A (p.Val947Ile)
NM_000083.3(CLCN1):c.2847C>A (p.Gly949=)
NM_000083.3(CLCN1):c.285C>T (p.His95=)
NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)
NM_000083.3(CLCN1):c.2862G>A (p.Leu954=)
NM_000083.3(CLCN1):c.2869G>A (p.Val957Met)
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2874G>A (p.Glu958=)
NM_000083.3(CLCN1):c.2880A>G (p.Pro960=)
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2889A>G (p.Glu963=)
NM_000083.3(CLCN1):c.288T>G (p.Tyr96Ter)
NM_000083.3(CLCN1):c.2892G>A (p.Glu964=)
NM_000083.3(CLCN1):c.2896C>G (p.Leu966Val) rs138115069
NM_000083.3(CLCN1):c.2896C>T (p.Leu966=)
NM_000083.3(CLCN1):c.2898G>A (p.Leu966=)
NM_000083.3(CLCN1):c.2901C>A (p.Ala967=)
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His) rs748630375
NM_000083.3(CLCN1):c.2904C>T (p.Asp968=)
NM_000083.3(CLCN1):c.2909T>A (p.Leu970Ter)
NM_000083.3(CLCN1):c.2926C>A (p.Arg976=)
NM_000083.3(CLCN1):c.2937C>A (p.Asp979Glu)
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
NM_000083.3(CLCN1):c.2941G>A (p.Glu981Lys) rs1586524391
NM_000083.3(CLCN1):c.2945A>C (p.Asp982Ala)
NM_000083.3(CLCN1):c.2947G>A (p.Glu983Lys)
NM_000083.3(CLCN1):c.2949G>A (p.Glu983=)
NM_000083.3(CLCN1):c.294A>C (p.Lys98Asn)
NM_000083.3(CLCN1):c.2955A>G (p.Glu985=)
NM_000083.3(CLCN1):c.2960T>A (p.Ile987Asn)
NM_000083.3(CLCN1):c.2961C>T (p.Ile987=)
NM_000083.3(CLCN1):c.2962C>G (p.Leu988Val)
NM_000083.3(CLCN1):c.2962del (p.Leu988fs) rs748329158
NM_000083.3(CLCN1):c.301+13G>A
NM_000083.3(CLCN1):c.301+14A>G
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.302-13C>T
NM_000083.3(CLCN1):c.302-17C>T
NM_000083.3(CLCN1):c.302-18T>C
NM_000083.3(CLCN1):c.302-1G>A rs529377088
NM_000083.3(CLCN1):c.302-20T>G
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.302-44_302-18del
NM_000083.3(CLCN1):c.302-5C>T
NM_000083.3(CLCN1):c.302-8C>T
NM_000083.3(CLCN1):c.302-9T>G
NM_000083.3(CLCN1):c.311A>G (p.His104Arg)
NM_000083.3(CLCN1):c.324G>A (p.Gln108=)
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.330G>A (p.Val110=)
NM_000083.3(CLCN1):c.338A>C (p.Lys113Thr)
NM_000083.3(CLCN1):c.342A>G (p.Leu114=)
NM_000083.3(CLCN1):c.343G>A (p.Gly115Arg) rs1802406028
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.354G>A (p.Gly118=)
NM_000083.3(CLCN1):c.355A>G (p.Ile119Val)
NM_000083.3(CLCN1):c.360del (p.Leu121fs) rs2116836321
NM_000083.3(CLCN1):c.364G>A (p.Val122Met)
NM_000083.3(CLCN1):c.365T>A (p.Val122Glu) rs2116836338
NM_000083.3(CLCN1):c.36del (p.Glu12fs)
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu) rs1802406774
NM_000083.3(CLCN1):c.375A>C (p.Gly125=) rs2116836367
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.379C>T (p.Leu127=)
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.392T>G (p.Val131Gly) rs769391461
NM_000083.3(CLCN1):c.393C>T (p.Val131=)
NM_000083.3(CLCN1):c.402C>T (p.Ser134=) rs748875679
NM_000083.3(CLCN1):c.404T>C (p.Met135Thr)
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala)
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His) rs748639603
NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter)
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.414C>G (p.Val138=)
NM_000083.3(CLCN1):c.414C>T (p.Val138=)
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.430C>G (p.Gln144Glu)
NM_000083.3(CLCN1):c.431A>C (p.Gln144Pro)
NM_000083.3(CLCN1):c.431A>G (p.Gln144Arg)
NM_000083.3(CLCN1):c.431dup (p.Ala145fs)
NM_000083.3(CLCN1):c.433+11C>A
NM_000083.3(CLCN1):c.433+12C>A
NM_000083.3(CLCN1):c.433+18C>T
NM_000083.3(CLCN1):c.433+1G>A
NM_000083.3(CLCN1):c.433+4G>C
NM_000083.3(CLCN1):c.433+4G>T
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) rs1475533366
NM_000083.3(CLCN1):c.434-10G>A rs566067406
NM_000083.3(CLCN1):c.434-12G>T
NM_000083.3(CLCN1):c.434-14A>C
NM_000083.3(CLCN1):c.434-17G>C
NM_000083.3(CLCN1):c.434-1G>A
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.434-4G>C
NM_000083.3(CLCN1):c.434-55_464del
NM_000083.3(CLCN1):c.434-6C>T
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)
NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)
NM_000083.3(CLCN1):c.441G>A (p.Lys147=)
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg) rs1409574232
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) rs2116837535
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
NM_000083.3(CLCN1):c.447C>T (p.Ser149=)
NM_000083.3(CLCN1):c.450C>A (p.Tyr150Ter)
NM_000083.3(CLCN1):c.468C>A (p.Ser156Arg)
NM_000083.3(CLCN1):c.469del (p.Leu157fs) rs1554434794
NM_000083.3(CLCN1):c.475del (p.Leu159fs) rs1802428440
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) rs1586485406
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.487G>A (p.Val163Ile) rs763587236
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
NM_000083.3(CLCN1):c.495C>A (p.Val165=)
NM_000083.3(CLCN1):c.497C>G (p.Thr166Ser) rs759966057
NM_000083.3(CLCN1):c.498C>T (p.Thr166=)
NM_000083.3(CLCN1):c.504A>G (p.Pro168=)
NM_000083.3(CLCN1):c.50_434-202del
NM_000083.3(CLCN1):c.511C>T (p.Leu171Phe)
NM_000083.3(CLCN1):c.513C>T (p.Leu171=)
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.518T>A (p.Leu173His)
NM_000083.3(CLCN1):c.518del (p.Leu173fs)
NM_000083.3(CLCN1):c.519C>T (p.Leu173=)
NM_000083.3(CLCN1):c.525C>T (p.Ser175=)
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val) rs766286036
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
NM_000083.3(CLCN1):c.542T>C (p.Leu181Pro) rs2116837812
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.546C>T (p.Ile182=)
NM_000083.3(CLCN1):c.549T>G (p.Ser183=)
NM_000083.3(CLCN1):c.555G>A (p.Gln185=)
NM_000083.3(CLCN1):c.562+15C>T
NM_000083.3(CLCN1):c.562+18G>T
NM_000083.3(CLCN1):c.562+19A>C
NM_000083.3(CLCN1):c.562+2T>G
NM_000083.3(CLCN1):c.562G>A (p.Gly188Ser)
NM_000083.3(CLCN1):c.563-17T>C
NM_000083.3(CLCN1):c.563-19A>G
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp) rs1554434857
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) rs746401512
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) rs2116838394
NM_000083.3(CLCN1):c.576C>T (p.Pro192=)
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
NM_000083.3(CLCN1):c.57C>T (p.Asp19=)
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.596G>A (p.Arg199His)
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
NM_000083.3(CLCN1):c.598G>A (p.Gly200Arg)
NM_000083.3(CLCN1):c.604G>T (p.Val202Phe)
NM_000083.3(CLCN1):c.606C>A (p.Val202=)
NM_000083.3(CLCN1):c.612G>A (p.Lys204=) rs775413124
NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter) rs1563074540
NM_000083.3(CLCN1):c.619C>T (p.Leu207Phe)
NM_000083.3(CLCN1):c.61del (p.Gln21fs)
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
NM_000083.3(CLCN1):c.626T>G (p.Met209Arg) rs1802444087
NM_000083.3(CLCN1):c.629A>G (p.Lys210Arg)
NM_000083.3(CLCN1):c.630A>G (p.Lys210=)
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.642C>G (p.Ala214=)
NM_000083.3(CLCN1):c.642del (p.Lys215fs)
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) rs2116838620
NM_000083.3(CLCN1):c.663G>C (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.677G>A (p.Gly226Asp)
NM_000083.3(CLCN1):c.678C>T (p.Gly226=)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.684C>G (p.Pro228=)
NM_000083.3(CLCN1):c.684C>T (p.Pro228=)
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.687G>A (p.Val229=)
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
NM_000083.3(CLCN1):c.696+14G>A
NM_000083.3(CLCN1):c.696+14G>T
NM_000083.3(CLCN1):c.696+16C>G
NM_000083.3(CLCN1):c.696+1G>A
NM_000083.3(CLCN1):c.696+20A>C
NM_000083.3(CLCN1):c.696+5G>A rs865899737
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.697-12C>T
NM_000083.3(CLCN1):c.697-13C>A
NM_000083.3(CLCN1):c.697-15C>A
NM_000083.3(CLCN1):c.697-15C>T
NM_000083.3(CLCN1):c.697-17C>T
NM_000083.3(CLCN1):c.697-19C>T
NM_000083.3(CLCN1):c.697-1G>A rs773025750
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.697-7C>T
NM_000083.3(CLCN1):c.697-9C>G
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.698G>T (p.Gly233Val)
NM_000083.3(CLCN1):c.69G>C (p.Gln23His) rs760729130
NM_000083.3(CLCN1):c.702C>T (p.Pro234=)
NM_000083.3(CLCN1):c.702del (p.Phe235fs)
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.710A>G (p.His237Arg) rs542648820
NM_000083.3(CLCN1):c.712A>G (p.Ile238Val) rs765718767
NM_000083.3(CLCN1):c.712A>T (p.Ile238Phe)
NM_000083.3(CLCN1):c.715G>C (p.Ala239Pro) rs1454438376
NM_000083.3(CLCN1):c.732T>A (p.Ala244=) rs1195242619
NM_000083.3(CLCN1):c.732T>C (p.Ala244=)
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr) rs1586487813
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.750G>T (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.751del (p.Ser251fs) rs1586487826
NM_000083.3(CLCN1):c.759C>G (p.Phe253Leu)
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.765G>A (p.Gly255=)
NM_000083.3(CLCN1):c.768A>G (p.Val256=)
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000083.3(CLCN1):c.771T>C (p.Tyr257=)
NM_000083.3(CLCN1):c.774+13C>G
NM_000083.3(CLCN1):c.775-10C>T
NM_000083.3(CLCN1):c.775-12C>T
NM_000083.3(CLCN1):c.775-14C>T
NM_000083.3(CLCN1):c.775-16G>C
NM_000083.3(CLCN1):c.775-16_775-13del
NM_000083.3(CLCN1):c.775-6T>C
NM_000083.3(CLCN1):c.775-7C>T
NM_000083.3(CLCN1):c.775-8C>T
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) rs2116842799
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter)
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.795T>C (p.Asp265=)
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.812G>C (p.Cys271Ser)
NM_000083.3(CLCN1):c.814_815delinsAA (p.Ala272Asn)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly) rs1563075892
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.81T>A (p.Phe27Leu)
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys) rs765181341
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly) rs757109632
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg) rs80190110
NM_000083.3(CLCN1):c.840G>A (p.Gly280=)
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala) rs1586489432
NM_000083.3(CLCN1):c.845C>G (p.Pro282Arg)
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) rs80356688
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.853+13C>A
NM_000083.3(CLCN1):c.853+13C>T
NM_000083.3(CLCN1):c.853+14C>A
NM_000083.3(CLCN1):c.853+14C>T
NM_000083.3(CLCN1):c.853+16C>G
NM_000083.3(CLCN1):c.853+17del
NM_000083.3(CLCN1):c.853+17dup
NM_000083.3(CLCN1):c.853+19C>A rs748877906
NM_000083.3(CLCN1):c.853+19C>T
NM_000083.3(CLCN1):c.853+23dup
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
NM_000083.3(CLCN1):c.854-16T>A
NM_000083.3(CLCN1):c.854-17C>T
NM_000083.3(CLCN1):c.854-18A>G
NM_000083.3(CLCN1):c.854-3C>A
NM_000083.3(CLCN1):c.854-4G>A
NM_000083.3(CLCN1):c.854-9C>G
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val)
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln) rs1266327660
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.870C>T (p.Ile290=)
NM_000083.3(CLCN1):c.871G>C (p.Glu291Gln)
NM_000083.3(CLCN1):c.873G>A (p.Glu291=)
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile) rs762943928
NM_000083.3(CLCN1):c.889T>G (p.Phe297Val) rs2116852202
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
NM_000083.3(CLCN1):c.894T>C (p.Ala298=)
NM_000083.3(CLCN1):c.897T>C (p.Val299=)
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.911G>A (p.Arg304Lys)
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) rs1802702027
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) rs1802702190
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.923C>T (p.Ala308Val) rs1406554534
NM_000083.3(CLCN1):c.930G>A (p.Thr310=)
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys) rs1586496817
NM_000083.3(CLCN1):c.936C>T (p.Ser312=)
NM_000083.3(CLCN1):c.944T>C (p.Val315Ala)
NM_000083.3(CLCN1):c.945G>T (p.Val315=)
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) rs1337473924
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro) rs80356702
NM_000083.3(CLCN1):c.952G>A (p.Val318Met)
NM_000083.3(CLCN1):c.954G>A (p.Val318=)
NM_000083.3(CLCN1):c.954G>T (p.Val318=)
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) rs780150093
NM_000083.3(CLCN1):c.963G>A (p.Val321=)
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter)
NM_000083.3(CLCN1):c.966G>C (p.Trp322Cys)
NM_000083.3(CLCN1):c.969C>T (p.Asn323=)
NM_000083.3(CLCN1):c.972G>C (p.Lys324Asn)
NM_000083.3(CLCN1):c.979+12G>T
NM_000083.3(CLCN1):c.979+20G>A
NM_000083.3(CLCN1):c.979+9G>A
NM_000083.3(CLCN1):c.980-10C>T
NM_000083.3(CLCN1):c.980-12T>C
NM_000083.3(CLCN1):c.980-15C>A
NM_000083.3(CLCN1):c.980-16C>T
NM_000083.3(CLCN1):c.980-17G>T
NM_000083.3(CLCN1):c.980-18G>C
NM_000083.3(CLCN1):c.980-20C>G
NM_000083.3(CLCN1):c.980-20C>T
NM_000083.3(CLCN1):c.980-2A>G
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.980-4A>G
NM_000083.3(CLCN1):c.980-5T>C
NM_000083.3(CLCN1):c.980-8T>C
NM_000083.3(CLCN1):c.980-9A>G
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) rs780421370
NM_000083.3(CLCN1):c.984C>G (p.Thr328=)
NM_000083.3(CLCN1):c.984C>T (p.Thr328=)
NM_000083.3(CLCN1):c.984_989del (p.Ile329_Thr330del)
NM_000083.3(CLCN1):c.989dup (p.Ala331fs) rs1383055795
NM_000083.3(CLCN1):c.990T>C (p.Thr330=)
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000083.3(CLCN1):c.991_992delinsCT (p.Ala331Leu) rs2116852875
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)
NM_000083.3(CLCN1):c.993T>C (p.Ala331=) rs2116852879
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter) rs138922145
NM_000083.3(CLCN1):c.9A>G (p.Gln3=)
NM_000334.4(SCN4A):c.1008T>C (p.Phe336=) rs2144809793
NM_000334.4(SCN4A):c.1015G>A (p.Asp339Asn) rs760680437
NM_000334.4(SCN4A):c.1018G>T (p.Ala340Ser) rs147936148
NM_000334.4(SCN4A):c.101AGG[2] (p.Glu36del)
NM_000334.4(SCN4A):c.1023C>T (p.Tyr341=) rs2144809750
NM_000334.4(SCN4A):c.1032T>C (p.Asp344=)
NM_000334.4(SCN4A):c.1036+11G>A
NM_000334.4(SCN4A):c.1036+12_1036+23del
NM_000334.4(SCN4A):c.1036+13A>G
NM_000334.4(SCN4A):c.1036+16G>A
NM_000334.4(SCN4A):c.1036+8T>C
NM_000334.4(SCN4A):c.1037-17G>A
NM_000334.4(SCN4A):c.1037-1G>A
NM_000334.4(SCN4A):c.1037-6C>T
NM_000334.4(SCN4A):c.1038G>C (p.Gly346=)
NM_000334.4(SCN4A):c.1049_1053del (p.Tyr349_Phe350insTer)
NM_000334.4(SCN4A):c.1065C>T (p.Asn355=)
NM_000334.4(SCN4A):c.1066G>A (p.Asp356Asn)
NM_000334.4(SCN4A):c.1070C>T (p.Ala357Val)
NM_000334.4(SCN4A):c.1080T>C (p.Cys360=) rs757081435
NM_000334.4(SCN4A):c.1088G>C (p.Ser363Thr)
NM_000334.4(SCN4A):c.1094A>G (p.Asp365Gly) rs2144807923
NM_000334.4(SCN4A):c.1100+10del
NM_000334.4(SCN4A):c.1100+15G>C rs533321924
NM_000334.4(SCN4A):c.1100+3G>A rs1288881000
NM_000334.4(SCN4A):c.1101-13G>C
NM_000334.4(SCN4A):c.1113G>A (p.Glu371=)
NM_000334.4(SCN4A):c.1114G>A (p.Gly372Ser)
NM_000334.4(SCN4A):c.111C>A (p.Ala37=)
NM_000334.4(SCN4A):c.1121A>G (p.Glu374Gly)
NM_000334.4(SCN4A):c.1125C>A (p.Cys375Ter)
NM_000334.4(SCN4A):c.1125C>T (p.Cys375=)
NM_000334.4(SCN4A):c.112C>A (p.Arg38=) rs776201356
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp)
NM_000334.4(SCN4A):c.1130A>G (p.Lys377Arg)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1134C>T (p.Thr378=) rs762198335
NM_000334.4(SCN4A):c.1137G>T (p.Gly379=)
NM_000334.4(SCN4A):c.1158C>T (p.Tyr386=) rs745394242
NM_000334.4(SCN4A):c.1170C>T (p.Asp390=)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1200C>T (p.Phe400=)
NM_000334.4(SCN4A):c.1207A>T (p.Met403Leu)
NM_000334.4(SCN4A):c.1213C>G (p.Gln405Glu)
NM_000334.4(SCN4A):c.1242+20G>A
NM_000334.4(SCN4A):c.1242+7_1242+18del rs1909434763
NM_000334.4(SCN4A):c.1243-10C>A
NM_000334.4(SCN4A):c.1243-17_1243-3del rs771943636
NM_000334.4(SCN4A):c.1243-17_1243-3dup rs771943636
NM_000334.4(SCN4A):c.1243-7C>T
NM_000334.4(SCN4A):c.1243-9C>T
NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)
NM_000334.4(SCN4A):c.1271T>C (p.Met424Thr) rs1597982747
NM_000334.4(SCN4A):c.1276TTC[1] (p.Phe427del)
NM_000334.4(SCN4A):c.1278C>T (p.Phe426=)
NM_000334.4(SCN4A):c.1282G>A (p.Val428Met) rs532921435
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1288A>T (p.Ile430Phe)
NM_000334.4(SCN4A):c.1291A>T (p.Ile431Phe) rs1555604164
NM_000334.4(SCN4A):c.1306T>C (p.Phe436Leu)
NM_000334.4(SCN4A):c.1312C>T (p.Leu438Phe)
NM_000334.4(SCN4A):c.1317C>G (p.Ile439Met) rs1597982684
NM_000334.4(SCN4A):c.131A>G (p.Gln44Arg) rs2143027631
NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys) rs864622785
NM_000334.4(SCN4A):c.1323G>C (p.Leu441=)
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)
NM_000334.4(SCN4A):c.1328T>C (p.Leu443Pro) rs1555604153
NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1338G>A (p.Val446=) rs796737034
NM_000334.4(SCN4A):c.1342A>G (p.Met448Val)
NM_000334.4(SCN4A):c.1343T>A (p.Met448Lys) rs768617159
NM_000334.4(SCN4A):c.1344G>A (p.Met448Ile)
NM_000334.4(SCN4A):c.1345G>A (p.Ala449Thr)
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
NM_000334.4(SCN4A):c.1364A>C (p.Glu455Ala)
NM_000334.4(SCN4A):c.1370C>A (p.Thr457Asn) rs1567826131
NM_000334.4(SCN4A):c.1376C>A (p.Ala459Asp)
NM_000334.4(SCN4A):c.1377C>A (p.Ala459=) rs781392555
NM_000334.4(SCN4A):c.137A>G (p.Glu46Gly) rs1909654912
NM_000334.4(SCN4A):c.1393GAG[2] (p.Glu467del)
NM_000334.4(SCN4A):c.1406A>G (p.Gln469Arg)
NM_000334.4(SCN4A):c.1414C>A (p.Leu472Ile)
NM_000334.4(SCN4A):c.1414C>T (p.Leu472Phe)
NM_000334.4(SCN4A):c.1425C>T (p.Phe475=)
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu)
NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu) rs1555604122
NM_000334.4(SCN4A):c.1452+19G>A
NM_000334.4(SCN4A):c.1453-8G>T rs1909349500
NM_000334.4(SCN4A):c.1485G>A (p.Glu495=)
NM_000334.4(SCN4A):c.1495del (p.Asp499fs)
NM_000334.4(SCN4A):c.1500A>G (p.Pro500=)
NM_000334.4(SCN4A):c.1506T>C (p.His502=)
NM_000334.4(SCN4A):c.1514A>G (p.Asp505Gly)
NM_000334.4(SCN4A):c.1517G>C (p.Cys506Ser)
NM_000334.4(SCN4A):c.1523G>C (p.Gly508Ala)
NM_000334.4(SCN4A):c.1536A>C (p.Thr512=)
NM_000334.4(SCN4A):c.1538C>T (p.Ser513Leu) rs1227159244
NM_000334.4(SCN4A):c.1539G>C (p.Ser513=) rs758833537
NM_000334.4(SCN4A):c.1539G>T (p.Ser513=) rs758833537
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1543G>T (p.Gly515Trp)
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1556C>T (p.Ala519Val) rs756661894
NM_000334.4(SCN4A):c.1558C>T (p.Pro520Ser) rs1909342706
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.1569_1570inv (p.Ser524Gly)
NM_000334.4(SCN4A):c.1570_1584del (p.Ser524_Ser528del)
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1588A>G (p.Ile530Val)
NM_000334.4(SCN4A):c.1590C>T (p.Ile530=)
NM_000334.4(SCN4A):c.1595A>G (p.Asp532Gly) rs1909340315
NM_000334.4(SCN4A):c.1606+10T>C rs924271388
NM_000334.4(SCN4A):c.1606+10_1606+94del rs1909334869
NM_000334.4(SCN4A):c.1606+15C>T
NM_000334.4(SCN4A):c.1606+16C>A
NM_000334.4(SCN4A):c.1606+16C>T
NM_000334.4(SCN4A):c.1606+17C>G
NM_000334.4(SCN4A):c.1606+1G>C
NM_000334.4(SCN4A):c.1606+20G>T rs73326363
NM_000334.4(SCN4A):c.1606+7G>T
NM_000334.4(SCN4A):c.1607-19G>A
NM_000334.4(SCN4A):c.1609C>A (p.Leu537Met)
NM_000334.4(SCN4A):c.1612G>C (p.Glu538Gln) rs1450925196
NM_000334.4(SCN4A):c.1635A>G (p.Pro545=)
NM_000334.4(SCN4A):c.163C>A (p.Arg55=) rs754070476
NM_000334.4(SCN4A):c.1641G>A (p.Trp547Ter)
NM_000334.4(SCN4A):c.1657C>G (p.His553Asp)
NM_000334.4(SCN4A):c.1659C>G (p.His553Gln)
NM_000334.4(SCN4A):c.1661A>C (p.Lys554Thr)
NM_000334.4(SCN4A):c.1683C>T (p.Cys561=)
NM_000334.4(SCN4A):c.1688C>A (p.Pro563Gln)
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu)
NM_000334.4(SCN4A):c.1693C>G (p.Leu565Val) rs1597980227
NM_000334.4(SCN4A):c.1693C>T (p.Leu565=)
NM_000334.4(SCN4A):c.1699T>C (p.Phe567Leu) rs1909247142
NM_000334.4(SCN4A):c.1701C>G (p.Phe567Leu) rs1909246959
NM_000334.4(SCN4A):c.1709T>A (p.Ile570Asn)
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.171C>A (p.Asp57Glu)
NM_000334.4(SCN4A):c.171C>T (p.Asp57=) rs1415923721
NM_000334.4(SCN4A):c.1721T>C (p.Ile574Thr)
NM_000334.4(SCN4A):c.1722C>T (p.Ile574=)
NM_000334.4(SCN4A):c.1723G>A (p.Val575Ile) rs1162227213
NM_000334.4(SCN4A):c.1726A>C (p.Met576Leu) rs949909845
NM_000334.4(SCN4A):c.1728G>A (p.Met576Ile)
NM_000334.4(SCN4A):c.1733C>T (p.Pro578Leu) rs1370498653
NM_000334.4(SCN4A):c.1734G>A (p.Pro578=) rs1216814077
NM_000334.4(SCN4A):c.1734G>C (p.Pro578=)
NM_000334.4(SCN4A):c.1757T>C (p.Ile586Thr)
NM_000334.4(SCN4A):c.1757T>G (p.Ile586Ser)
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met)
NM_000334.4(SCN4A):c.1759T>G (p.Cys587Gly)
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val) rs2144798704
NM_000334.4(SCN4A):c.1775C>T (p.Thr592Ile) rs2144798676
NM_000334.4(SCN4A):c.1781T>C (p.Phe594Ser) rs2144798663
NM_000334.4(SCN4A):c.1790T>C (p.Met597Thr) rs2144798645
NM_000334.4(SCN4A):c.1791G>A (p.Met597Ile) rs1909243373
NM_000334.4(SCN4A):c.17T>C (p.Leu6Pro)
NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter) rs778746718
NM_000334.4(SCN4A):c.1809G>A (p.Thr603=)
NM_000334.4(SCN4A):c.1811A>T (p.Glu604Val) rs1909242012
NM_000334.4(SCN4A):c.1814A>C (p.His605Pro)
NM_000334.4(SCN4A):c.1814A>G (p.His605Arg) rs2144798572
NM_000334.4(SCN4A):c.1824C>T (p.Asn608=)
NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu)
NM_000334.4(SCN4A):c.1832C>T (p.Thr611Ile) rs1597980105
NM_000334.4(SCN4A):c.1835T>C (p.Val612Ala)
NM_000334.4(SCN4A):c.1836G>A (p.Val612=)
NM_000334.4(SCN4A):c.183C>G (p.Gly61=) rs2143027485
NM_000334.4(SCN4A):c.1843C>A (p.Leu615Met) rs763346049
NM_000334.4(SCN4A):c.1843C>G (p.Leu615Val)
NM_000334.4(SCN4A):c.1845+11G>A
NM_000334.4(SCN4A):c.1845+14G>A
NM_000334.4(SCN4A):c.1845+16G>A
NM_000334.4(SCN4A):c.1845+17G>A
NM_000334.4(SCN4A):c.1845+18A>C rs775429476
NM_000334.4(SCN4A):c.1845+18A>G rs775429476
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.1845+7A>T
NM_000334.4(SCN4A):c.1846-19G>T
NM_000334.4(SCN4A):c.1846-6C>A rs190853310
NM_000334.4(SCN4A):c.1848C>A (p.Val616=)
NM_000334.4(SCN4A):c.1856G>A (p.Gly619Asp)
NM_000334.4(SCN4A):c.1862T>A (p.Phe621Tyr)
NM_000334.4(SCN4A):c.1868C>T (p.Ala623Val)
NM_000334.4(SCN4A):c.1873A>C (p.Met625Leu) rs2144795716
NM_000334.4(SCN4A):c.1876G>T (p.Val626Phe) rs774848873
NM_000334.4(SCN4A):c.1894A>G (p.Met632Val) rs2144795683
NM_000334.4(SCN4A):c.1897G>A (p.Asp633Asn)
NM_000334.4(SCN4A):c.1900C>G (p.Pro634Ala)
NM_000334.4(SCN4A):c.1903T>G (p.Tyr635Asp)
NM_000334.4(SCN4A):c.1905C>A (p.Tyr635Ter)
NM_000334.4(SCN4A):c.1906G>A (p.Glu636Lys)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp) rs778197344
NM_000334.4(SCN4A):c.1925G>A (p.Trp642Ter)
NM_000334.4(SCN4A):c.1929T>C (p.Asn643=) rs2144795628
NM_000334.4(SCN4A):c.1943T>C (p.Ile648Thr)
NM_000334.4(SCN4A):c.1945A>G (p.Ile649Val) rs1909172837
NM_000334.4(SCN4A):c.1947C>A (p.Ile649=) rs564134251
NM_000334.4(SCN4A):c.1974C>T (p.Gly658=) rs1597978666
NM_000334.4(SCN4A):c.1981A>G (p.Asn661Asp) rs1597978662
NM_000334.4(SCN4A):c.1983C>A (p.Asn661Lys)
NM_000334.4(SCN4A):c.1986A>C (p.Val662=)
NM_000334.4(SCN4A):c.1995G>A (p.Leu665=)
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2001G>A (p.Val667=)
NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=)
NM_000334.4(SCN4A):c.2010C>A (p.Ser670=)
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2016T>C (p.Arg672=) rs988857421
NM_000334.4(SCN4A):c.2019+10del rs1386474833
NM_000334.4(SCN4A):c.2019+13C>T rs772218988
NM_000334.4(SCN4A):c.2019+5A>G rs1555603359
NM_000334.4(SCN4A):c.2019+8A>G rs1597978601
NM_000334.4(SCN4A):c.2020-18G>A
NM_000334.4(SCN4A):c.2020-4G>T
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2026G>A (p.Val676Ile)
NM_000334.4(SCN4A):c.2053A>G (p.Thr685Ala) rs1909108173
NM_000334.4(SCN4A):c.2061C>T (p.Asn687=) rs1482355253
NM_000334.4(SCN4A):c.2067C>A (p.Leu689=)
NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met) rs1224997537
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr) rs80338956
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)
NM_000334.4(SCN4A):c.2092G>T (p.Gly698Trp) rs1909106013
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2098C>T (p.Leu700=)
NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg) rs1909105377
NM_000334.4(SCN4A):c.2107C>T (p.Leu703=)
NM_000334.4(SCN4A):c.2110A>T (p.Thr704Ser) rs1909105230
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2112G>C (p.Thr704=)
NM_000334.4(SCN4A):c.211C>A (p.Pro71Thr)
NM_000334.4(SCN4A):c.2122G>C (p.Ala708Pro) rs1909104833
NM_000334.4(SCN4A):c.2135T>A (p.Phe712Tyr)
NM_000334.4(SCN4A):c.2137A>G (p.Ile713Val)
NM_000334.4(SCN4A):c.213C>T (p.Pro71=) rs2143027400
NM_000334.4(SCN4A):c.2143G>A (p.Ala715Thr) rs749400108
NM_000334.4(SCN4A):c.2143G>C (p.Ala715Pro) rs749400108
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2155A>G (p.Met719Val)
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.215dup (p.Pro73fs) rs1909650741
NM_000334.4(SCN4A):c.2163G>C (p.Leu721=) rs371312493
NM_000334.4(SCN4A):c.2170A>G (p.Lys724Glu)
NM_000334.4(SCN4A):c.2174G>A (p.Ser725Asn)
NM_000334.4(SCN4A):c.2180A>G (p.Lys727Arg)
NM_000334.4(SCN4A):c.2182G>C (p.Glu728Gln)
NM_000334.4(SCN4A):c.2184G>A (p.Glu728=) rs779766143
NM_000334.4(SCN4A):c.2184G>C (p.Glu728Asp) rs779766143
NM_000334.4(SCN4A):c.2186G>T (p.Cys729Phe)
NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) rs749942058
NM_000334.4(SCN4A):c.2209T>C (p.Cys737Arg)
NM_000334.4(SCN4A):c.2212A>T (p.Asn738Tyr)
NM_000334.4(SCN4A):c.2219C>T (p.Pro740Leu)
NM_000334.4(SCN4A):c.2230A>G (p.Met744Val)
NM_000334.4(SCN4A):c.223G>T (p.Val75Phe) rs1909649961
NM_000334.4(SCN4A):c.2241C>G (p.Phe747Leu)
NM_000334.4(SCN4A):c.2241C>T (p.Phe747=) rs1188601087
NM_000334.4(SCN4A):c.2259C>T (p.Ile753=)
NM_000334.4(SCN4A):c.225C>T (p.Val75=)
NM_000334.4(SCN4A):c.2277C>T (p.Cys759=)
NM_000334.4(SCN4A):c.2278G>A (p.Gly760Arg) rs991008969
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=) rs1555603112
NM_000334.4(SCN4A):c.2295C>T (p.Thr765=)
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr)
NM_000334.4(SCN4A):c.2319C>T (p.Ala773=)
NM_000334.4(SCN4A):c.2335C>G (p.Leu779Val)
NM_000334.4(SCN4A):c.2359G>A (p.Val787Ile) rs532827016
NM_000334.4(SCN4A):c.2359G>T (p.Val787Phe) rs532827016
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr) rs376505442
NM_000334.4(SCN4A):c.2365G>A (p.Gly789Ser) rs1172083418
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala)
NM_000334.4(SCN4A):c.2375T>G (p.Val792Gly) rs1357236962
NM_000334.4(SCN4A):c.2376+14G>A
NM_000334.4(SCN4A):c.2377-12C>G
NM_000334.4(SCN4A):c.2377-17del rs761358378
NM_000334.4(SCN4A):c.2377G>C (p.Val793Leu)
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)
NM_000334.4(SCN4A):c.2379C>T (p.Val793=)
NM_000334.4(SCN4A):c.2384A>C (p.Asn795Thr)
NM_000334.4(SCN4A):c.2385C>T (p.Asn795=)
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2388G>T (p.Leu796=)
NM_000334.4(SCN4A):c.2391C>G (p.Phe797Leu) rs1253601722
NM_000334.4(SCN4A):c.2398CTG[2] (p.Leu802del)
NM_000334.4(SCN4A):c.2401C>T (p.Leu801=)
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.2415C>T (p.Phe805=)
NM_000334.4(SCN4A):c.2418C>T (p.Ser806=)
NM_000334.4(SCN4A):c.2426G>T (p.Ser809Ile) rs1463760993
NM_000334.4(SCN4A):c.2436C>T (p.Ala812=)
NM_000334.4(SCN4A):c.2438C>G (p.Ser813Trp) rs748067563
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2454G>C (p.Glu818Asp) rs1908924564
NM_000334.4(SCN4A):c.2460C>T (p.Asn820=)
NM_000334.4(SCN4A):c.2471T>C (p.Ile824Thr)
NM_000334.4(SCN4A):c.2473G>A (p.Ala825Thr)
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser)
NM_000334.4(SCN4A):c.2482C>T (p.Arg828Cys)
NM_000334.4(SCN4A):c.2486T>C (p.Ile829Thr)
NM_000334.4(SCN4A):c.2490G>A (p.Lys830=)
NM_000334.4(SCN4A):c.2513C>A (p.Ala838Asp)
NM_000334.4(SCN4A):c.2522T>C (p.Leu841Pro) rs1908921340
NM_000334.4(SCN4A):c.2523G>A (p.Leu841=)
NM_000334.4(SCN4A):c.2523G>C (p.Leu841=)
NM_000334.4(SCN4A):c.2552C>T (p.Pro851Leu) rs1908920258
NM_000334.4(SCN4A):c.2562C>G (p.Ile854Met) rs1288151722
NM_000334.4(SCN4A):c.2567_2568delinsCT (p.Leu856Pro)
NM_000334.4(SCN4A):c.2568C>T (p.Leu856=)
NM_000334.4(SCN4A):c.256TAC[1] (p.Tyr87del)
NM_000334.4(SCN4A):c.2571C>T (p.Ser857=)
NM_000334.4(SCN4A):c.2572C>A (p.Leu858Ile)
NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg)
NM_000334.4(SCN4A):c.2575G>C (p.Gly859Arg) rs749473147
NM_000334.4(SCN4A):c.2578G>A (p.Glu860Lys) rs1346024466
NM_000334.4(SCN4A):c.257A>G (p.Tyr86Cys)
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2593G>A (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2596G>A (p.Glu866Lys)
NM_000334.4(SCN4A):c.2599_2616del (p.864AGE[1])
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2608G>A (p.Ala870Thr) rs2144786989
NM_000334.4(SCN4A):c.2612G>T (p.Gly871Val)
NM_000334.4(SCN4A):c.2614dup (p.Glu872fs) rs1908916380
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala) rs201148948
NM_000334.4(SCN4A):c.2631T>A (p.Asp877Glu)
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2644C>A (p.Pro882Thr)
NM_000334.4(SCN4A):c.2645C>T (p.Pro882Leu)
NM_000334.4(SCN4A):c.2647C>T (p.Pro883Ser) rs1908913430
NM_000334.4(SCN4A):c.2656G>A (p.Asp886Asn)
NM_000334.4(SCN4A):c.2662AAG[1] (p.Lys889del) rs775415120
NM_000334.4(SCN4A):c.2664G>A (p.Lys888=)
NM_000334.4(SCN4A):c.2667G>A (p.Lys889=)
NM_000334.4(SCN4A):c.2675A>G (p.His892Arg) rs1597973637
NM_000334.4(SCN4A):c.2686C>T (p.His896Tyr)
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)
NM_000334.4(SCN4A):c.2690T>A (p.Met897Lys) rs370879135
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2692G>T (p.Gly898Cys) rs1908911247
NM_000334.4(SCN4A):c.2699C>G (p.Ala900Gly) rs2144786776
NM_000334.4(SCN4A):c.2700T>C (p.Ala900=) rs1193886090
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.2711del (p.Pro904fs)
NM_000334.4(SCN4A):c.2718C>T (p.Ser906=)
NM_000334.4(SCN4A):c.273+17G>A
NM_000334.4(SCN4A):c.273+17G>C rs375940672
NM_000334.4(SCN4A):c.273+17G>T
NM_000334.4(SCN4A):c.273+8C>A rs1167045006
NM_000334.4(SCN4A):c.2732A>G (p.His911Arg) rs1908907908
NM_000334.4(SCN4A):c.2739C>T (p.Asn913=)
NM_000334.4(SCN4A):c.274-17C>T
NM_000334.4(SCN4A):c.2769G>A (p.Gln923=)
NM_000334.4(SCN4A):c.2773C>T (p.Pro925Ser) rs1567820767
NM_000334.4(SCN4A):c.2774C>G (p.Pro925Arg)
NM_000334.4(SCN4A):c.2780C>T (p.Ala927Val)
NM_000334.4(SCN4A):c.2794G>T (p.Asp932Tyr)
NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala) rs1597973465
NM_000334.4(SCN4A):c.2801A>T (p.Glu934Val)
NM_000334.4(SCN4A):c.2805G>A (p.Met935Ile)
NM_000334.4(SCN4A):c.2811C>T (p.Thr937=)
NM_000334.4(SCN4A):c.2814G>A (p.Glu938=)
NM_000334.4(SCN4A):c.2823C>T (p.Thr941=)
NM_000334.4(SCN4A):c.2825A>G (p.Asp942Gly) rs1908902761
NM_000334.4(SCN4A):c.2829T>C (p.Thr943=) rs2144786514
NM_000334.4(SCN4A):c.2830_2831del (p.Phe944fs) rs2144786506
NM_000334.4(SCN4A):c.2832C>T (p.Phe944=) rs2144786504
NM_000334.4(SCN4A):c.2849G>C (p.Ser950Thr)
NM_000334.4(SCN4A):c.2853+10G>A rs771981248
NM_000334.4(SCN4A):c.2853+11G>T
NM_000334.4(SCN4A):c.2853+18C>G
NM_000334.4(SCN4A):c.2854-3C>T
NM_000334.4(SCN4A):c.2854-4G>A
NM_000334.4(SCN4A):c.2854-6C>T rs1311365592
NM_000334.4(SCN4A):c.2854-9C>T
NM_000334.4(SCN4A):c.2859G>A (p.Pro953=)
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2869C>T (p.Leu957Phe)
NM_000334.4(SCN4A):c.2889C>A (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.2889C>T (p.Ser963=) rs757881584
NM_000334.4(SCN4A):c.289A>G (p.Asn97Asp)
NM_000334.4(SCN4A):c.2900C>T (p.Thr967Ile) rs1908838389
NM_000334.4(SCN4A):c.2905G>A (p.Asp969Asn) rs2144784455
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.2914C>T (p.Pro972Ser)
NM_000334.4(SCN4A):c.2916C>T (p.Pro972=)
NM_000334.4(SCN4A):c.2919del (p.Glu974fs) rs1567819905
NM_000334.4(SCN4A):c.2930C>T (p.Pro977Leu)
NM_000334.4(SCN4A):c.2932G>C (p.Glu978Gln) rs1555601999
NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)
NM_000334.4(SCN4A):c.2944G>A (p.Glu982Lys)
NM_000334.4(SCN4A):c.2947G>A (p.Glu983Lys) rs1555601991
NM_000334.4(SCN4A):c.2952C>A (p.Asn984Lys)
NM_000334.4(SCN4A):c.2952C>T (p.Asn984=)
NM_000334.4(SCN4A):c.2953C>T (p.Pro985Ser) rs1322343855
NM_000334.4(SCN4A):c.2959G>A (p.Gly987Arg)
NM_000334.4(SCN4A):c.2961G>A (p.Gly987=) rs1447182115
NM_000334.4(SCN4A):c.2962G>A (p.Glu988Lys)
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr)
NM_000334.4(SCN4A):c.2973G>A (p.Glu991=)
NM_000334.4(SCN4A):c.2974G>A (p.Glu992Lys)
NM_000334.4(SCN4A):c.2989+15C>T
NM_000334.4(SCN4A):c.2989+18C>G rs2144784248
NM_000334.4(SCN4A):c.2989+8C>T
NM_000334.4(SCN4A):c.2989G>A (p.Ala997Thr)
NM_000334.4(SCN4A):c.2990-15C>T
NM_000334.4(SCN4A):c.2990-16C>G
NM_000334.4(SCN4A):c.2990-18C>T
NM_000334.4(SCN4A):c.2990-20G>T
NM_000334.4(SCN4A):c.2990-8C>G
NM_000334.4(SCN4A):c.2990-9C>A
NM_000334.4(SCN4A):c.2992T>C (p.Cys998Arg) rs1555601897
NM_000334.4(SCN4A):c.2996T>A (p.Val999Glu)
NM_000334.4(SCN4A):c.2998C>G (p.Gln1000Glu)
NM_000334.4(SCN4A):c.3006G>C (p.Trp1002Cys)
NM_000334.4(SCN4A):c.3010T>A (p.Cys1004Ser)
NM_000334.4(SCN4A):c.3030C>T (p.Ser1010=)
NM_000334.4(SCN4A):c.3035G>A (p.Gly1012Asp)
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3038G>T (p.Arg1013Leu)
NM_000334.4(SCN4A):c.3050G>C (p.Trp1017Ser)
NM_000334.4(SCN4A):c.3058C>T (p.Leu1020=)
NM_000334.4(SCN4A):c.305T>C (p.Ile102Thr)
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3064A>G (p.Arg1022Gly)
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954
NM_000334.4(SCN4A):c.3066G>A (p.Arg1022=)
NM_000334.4(SCN4A):c.3084C>T (p.Val1028=)
NM_000334.4(SCN4A):c.3089A>G (p.His1030Arg)
NM_000334.4(SCN4A):c.3095G>C (p.Trp1032Ser)
NM_000334.4(SCN4A):c.3100G>A (p.Glu1034Lys)
NM_000334.4(SCN4A):c.3109A>T (p.Ile1037Phe)
NM_000334.4(SCN4A):c.310C>T (p.Arg104Cys)
NM_000334.4(SCN4A):c.3118A>G (p.Met1040Val)
NM_000334.4(SCN4A):c.3123C>A (p.Ile1041=)
NM_000334.4(SCN4A):c.3144+11C>T
NM_000334.4(SCN4A):c.3144+3A>G
NM_000334.4(SCN4A):c.3145-10G>C
NM_000334.4(SCN4A):c.3145-14G>C
NM_000334.4(SCN4A):c.3145-16G>T
NM_000334.4(SCN4A):c.3145-3del
NM_000334.4(SCN4A):c.3145-7C>T
NM_000334.4(SCN4A):c.3147C>T (p.Ala1049=)
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser) rs1347004471
NM_000334.4(SCN4A):c.3150C>T (p.Phe1050=)
NM_000334.4(SCN4A):c.3151G>A (p.Glu1051Lys) rs1555601786
NM_000334.4(SCN4A):c.3157A>G (p.Ile1053Val)
NM_000334.4(SCN4A):c.3159C>G (p.Ile1053Met) rs1302161849
NM_000334.4(SCN4A):c.315C>A (p.Phe105Leu)
NM_000334.4(SCN4A):c.3160T>C (p.Tyr1054His)
NM_000334.4(SCN4A):c.3164T>A (p.Ile1055Asn)
NM_000334.4(SCN4A):c.3172C>T (p.Arg1058Trp)
NM_000334.4(SCN4A):c.3175C>T (p.Arg1059Ter)
NM_000334.4(SCN4A):c.3184C>T (p.Arg1062Cys)
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3188C>T (p.Thr1063Ile)
NM_000334.4(SCN4A):c.319G>A (p.Ala107Thr)
NM_000334.4(SCN4A):c.3218C>A (p.Thr1073Asn)
NM_000334.4(SCN4A):c.3225C>T (p.Ile1075=)
NM_000334.4(SCN4A):c.3229A>G (p.Ile1077Val)
NM_000334.4(SCN4A):c.3233T>C (p.Met1078Thr)
NM_000334.4(SCN4A):c.3240G>T (p.Met1080Ile)
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3263dup (p.Phe1089fs) rs2144782598
NM_000334.4(SCN4A):c.3271G>A (p.Val1091Met)
NM_000334.4(SCN4A):c.3293G>T (p.Cys1098Phe) rs1050182641
NM_000334.4(SCN4A):c.3300C>T (p.Leu1100=)
NM_000334.4(SCN4A):c.3301G>A (p.Asp1101Asn)
NM_000334.4(SCN4A):c.3303C>G (p.Asp1101Glu) rs1908777669
NM_000334.4(SCN4A):c.3309C>T (p.Leu1103=)
NM_000334.4(SCN4A):c.3312C>G (p.Ile1104Met) rs779189351
NM_000334.4(SCN4A):c.3312C>T (p.Ile1104=) rs779189351
NM_000334.4(SCN4A):c.3313G>A (p.Val1105Met) rs756884948
NM_000334.4(SCN4A):c.3313G>T (p.Val1105Leu)
NM_000334.4(SCN4A):c.3318+18G>A
NM_000334.4(SCN4A):c.3318+20C>T rs368263593
NM_000334.4(SCN4A):c.3318+7C>T
NM_000334.4(SCN4A):c.3318+9C>T
NM_000334.4(SCN4A):c.3319-12C>T rs766233648
NM_000334.4(SCN4A):c.3319-4G>A
NM_000334.4(SCN4A):c.3319-9C>A
NM_000334.4(SCN4A):c.3322T>A (p.Ser1108Thr)
NM_000334.4(SCN4A):c.3325A>C (p.Ile1109Leu)
NM_000334.4(SCN4A):c.3328A>G (p.Ile1110Val)
NM_000334.4(SCN4A):c.3340G>T (p.Ala1114Ser)
NM_000334.4(SCN4A):c.3357C>T (p.Tyr1119=) rs903219930
NM_000334.4(SCN4A):c.3359C>G (p.Ser1120Trp)
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu) rs1314399622
NM_000334.4(SCN4A):c.3368G>A (p.Gly1123Glu)
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg)
NM_000334.4(SCN4A):c.3386G>C (p.Arg1129Pro) rs527236149
NM_000334.4(SCN4A):c.3394C>A (p.Arg1132=) rs778176181
NM_000334.4(SCN4A):c.3394C>G (p.Arg1132Gly) rs778176181
NM_000334.4(SCN4A):c.3397del (p.Ala1133fs)
NM_000334.4(SCN4A):c.3402G>A (p.Leu1134=)
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3436A>G (p.Met1146Val)
NM_000334.4(SCN4A):c.3440G>C (p.Arg1147Thr) rs1908747679
NM_000334.4(SCN4A):c.3441+16G>A
NM_000334.4(SCN4A):c.3442-12C>G rs538428104
NM_000334.4(SCN4A):c.3442-12C>T rs538428104
NM_000334.4(SCN4A):c.3442-17G>C
NM_000334.4(SCN4A):c.3442-3C>T rs2144779639
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)
NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)
NM_000334.4(SCN4A):c.345C>A (p.Ser115Arg)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3472C>G (p.Pro1158Ala)
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) rs121908549
NM_000334.4(SCN4A):c.3491T>C (p.Leu1164Pro) rs1444949985
NM_000334.4(SCN4A):c.3506T>C (p.Ile1169Thr)
NM_000334.4(SCN4A):c.3510C>T (p.Phe1170=)
NM_000334.4(SCN4A):c.3532G>A (p.Gly1178Ser)
NM_000334.4(SCN4A):c.3535G>A (p.Val1179Ile)
NM_000334.4(SCN4A):c.3539A>G (p.Asn1180Ser) rs1908688683
NM_000334.4(SCN4A):c.3539A>T (p.Asn1180Ile) rs1908688683
NM_000334.4(SCN4A):c.3541C>T (p.Leu1181=)
NM_000334.4(SCN4A):c.3546T>C (p.Phe1182=)
NM_000334.4(SCN4A):c.3549C>T (p.Ala1183=)
NM_000334.4(SCN4A):c.3562T>C (p.Tyr1188His)
NM_000334.4(SCN4A):c.358G>A (p.Val120Ile)
NM_000334.4(SCN4A):c.3591G>A (p.Arg1197=)
NM_000334.4(SCN4A):c.3598A>G (p.Ile1200Val)
NM_000334.4(SCN4A):c.3603C>T (p.Ser1201=)
NM_000334.4(SCN4A):c.3604G>C (p.Glu1202Gln)
NM_000334.4(SCN4A):c.3607del (p.Val1203fs)
NM_000334.4(SCN4A):c.3609C>T (p.Val1203=)
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3624G>C (p.Glu1208Asp)
NM_000334.4(SCN4A):c.3628G>A (p.Glu1210Lys)
NM_000334.4(SCN4A):c.3630G>A (p.Glu1210=)
NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)
NM_000334.4(SCN4A):c.3638T>G (p.Met1213Arg)
NM_000334.4(SCN4A):c.3648C>A (p.Gly1216=)
NM_000334.4(SCN4A):c.3649C>A (p.Gln1217Lys)
NM_000334.4(SCN4A):c.3651G>A (p.Gln1217=)
NM_000334.4(SCN4A):c.3652G>T (p.Val1218Phe)
NM_000334.4(SCN4A):c.3656G>A (p.Arg1219His)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3685A>G (p.Asn1229Asp)
NM_000334.4(SCN4A):c.3686A>G (p.Asn1229Ser) rs900270228
NM_000334.4(SCN4A):c.3687C>T (p.Asn1229=)
NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=) rs2144779293
NM_000334.4(SCN4A):c.3720+19C>T
NM_000334.4(SCN4A):c.3720+20C>T
NM_000334.4(SCN4A):c.3720+6T>C
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3721-17C>A
NM_000334.4(SCN4A):c.3722C>G (p.Ala1241Gly)
NM_000334.4(SCN4A):c.373A>G (p.Ile125Val)
NM_000334.4(SCN4A):c.3740T>C (p.Met1247Thr)
NM_000334.4(SCN4A):c.3747C>T (p.Ile1249=)
NM_000334.4(SCN4A):c.3748A>G (p.Met1250Val)
NM_000334.4(SCN4A):c.3754G>A (p.Ala1252Thr)
NM_000334.4(SCN4A):c.3770G>A (p.Arg1257Gln)
NM_000334.4(SCN4A):c.3774+10G>A
NM_000334.4(SCN4A):c.3774+11G>A
NM_000334.4(SCN4A):c.3774+12T>G
NM_000334.4(SCN4A):c.3774+14G>A
NM_000334.4(SCN4A):c.3774+19G>A
NM_000334.4(SCN4A):c.3774+19G>C
NM_000334.4(SCN4A):c.3775-13G>A rs1423251716
NM_000334.4(SCN4A):c.3775-15C>A
NM_000334.4(SCN4A):c.377A>G (p.Lys126Arg) rs1909639891
NM_000334.4(SCN4A):c.3788C>T (p.Pro1263Leu) rs767272792
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.3795C>T (p.Tyr1265=)
NM_000334.4(SCN4A):c.3799G>A (p.Val1267Met)
NM_000334.4(SCN4A):c.379G>A (p.Val127Met)
NM_000334.4(SCN4A):c.3811A>G (p.Met1271Val) rs2144778458
NM_000334.4(SCN4A):c.3816C>T (p.Tyr1272=)
NM_000334.4(SCN4A):c.3829A>G (p.Ile1277Val) rs776750130
NM_000334.4(SCN4A):c.3831C>A (p.Ile1277=)
NM_000334.4(SCN4A):c.3831C>T (p.Ile1277=)
NM_000334.4(SCN4A):c.3853T>C (p.Phe1285Leu) rs373730802
NM_000334.4(SCN4A):c.3853T>G (p.Phe1285Val) rs373730802
NM_000334.4(SCN4A):c.3868T>C (p.Phe1290Leu)
NM_000334.4(SCN4A):c.3870C>T (p.Phe1290=)
NM_000334.4(SCN4A):c.3872T>C (p.Ile1291Thr)
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)
NM_000334.4(SCN4A):c.3888C>T (p.Asp1296=)
NM_000334.4(SCN4A):c.3890A>G (p.Asn1297Ser)
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.3896A>T (p.Asn1299Ile) rs2144778363
NM_000334.4(SCN4A):c.3897C>T (p.Asn1299=)
NM_000334.4(SCN4A):c.3898C>G (p.Gln1300Glu) rs1357732381
NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del) rs752135284
NM_000334.4(SCN4A):c.389A>T (p.His130Leu)
NM_000334.4(SCN4A):c.3904A>G (p.Lys1302Glu) rs1555601285
NM_000334.4(SCN4A):c.3906G>C (p.Lys1302Asn)
NM_000334.4(SCN4A):c.3908A>G (p.Lys1303Arg)
NM_000334.4(SCN4A):c.3910_3912del rs1326940129
NM_000334.4(SCN4A):c.3912+10A>C
NM_000334.4(SCN4A):c.3912+17C>A
NM_000334.4(SCN4A):c.3912+20C>T
NM_000334.4(SCN4A):c.3912+3G>A
NM_000334.4(SCN4A):c.3912+6_3912+15del
NM_000334.4(SCN4A):c.3913-14C>A
NM_000334.4(SCN4A):c.3913-8C>T
NM_000334.4(SCN4A):c.3913T>G (p.Leu1305Val)
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.392+10C>A
NM_000334.4(SCN4A):c.392+17G>A
NM_000334.4(SCN4A):c.3921G>T (p.Gly1307=) rs1908625994
NM_000334.4(SCN4A):c.3925G>C (p.Asp1309His)
NM_000334.4(SCN4A):c.3926A>G (p.Asp1309Gly)
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.392C>A (p.Ala131Glu)
NM_000334.4(SCN4A):c.393-20T>C
NM_000334.4(SCN4A):c.393-20T>G
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.393-6C>T
NM_000334.4(SCN4A):c.3930C>T (p.Ile1310=)
NM_000334.4(SCN4A):c.3937A>G (p.Thr1313Ala)
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.3955_3956delinsAT (p.Tyr1319Ile) rs1908624669
NM_000334.4(SCN4A):c.3957_3959del (p.Tyr1320del)
NM_000334.4(SCN4A):c.3958T>C (p.Tyr1320His)
NM_000334.4(SCN4A):c.395T>G (p.Leu132Arg)
NM_000334.4(SCN4A):c.3964G>A (p.Ala1322Thr)
NM_000334.4(SCN4A):c.3965C>T (p.Ala1322Val) rs1567817350
NM_000334.4(SCN4A):c.3967A>G (p.Met1323Val) rs1908623807
NM_000334.4(SCN4A):c.396G>A (p.Leu132=)
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg)
NM_000334.4(SCN4A):c.3987G>C (p.Lys1329Asn)
NM_000334.4(SCN4A):c.39C>A (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.39C>T (p.Gly13=) rs367551440
NM_000334.4(SCN4A):c.4017+10T>G
NM_000334.4(SCN4A):c.4017+13G>C
NM_000334.4(SCN4A):c.4017+16C>A
NM_000334.4(SCN4A):c.4017+20C>T rs537558051
NM_000334.4(SCN4A):c.4017+5A>G
NM_000334.4(SCN4A):c.4017+9C>T
NM_000334.4(SCN4A):c.4018-16C>G
NM_000334.4(SCN4A):c.4018-3C>T
NM_000334.4(SCN4A):c.4018-4G>T
NM_000334.4(SCN4A):c.4032C>A (p.Gly1344=) rs1908598072
NM_000334.4(SCN4A):c.4032C>T (p.Gly1344=)
NM_000334.4(SCN4A):c.4038G>C (p.Val1346=)
NM_000334.4(SCN4A):c.4044C>A (p.Asp1348Glu)
NM_000334.4(SCN4A):c.4045C>T (p.Leu1349Phe) rs994344058
NM_000334.4(SCN4A):c.4056G>A (p.Lys1352=)
NM_000334.4(SCN4A):c.4060G>A (p.Ala1354Thr) rs2144776414
NM_000334.4(SCN4A):c.4063T>G (p.Phe1355Val)
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4069A>G (p.Ile1357Val)
NM_000334.4(SCN4A):c.4075A>C (p.Ile1359Leu)
NM_000334.4(SCN4A):c.4077C>G (p.Ile1359Met) rs1908595411
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4086_4087delinsAT (p.Ile1363Phe) rs1598405727
NM_000334.4(SCN4A):c.4089C>T (p.Ile1363=)
NM_000334.4(SCN4A):c.4092C>T (p.Cys1364=)
NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys) rs1908594231
NM_000334.4(SCN4A):c.4099A>G (p.Met1367Val)
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr) rs1908593639
NM_000334.4(SCN4A):c.4117G>C (p.Glu1373Gln) rs1555601036
NM_000334.4(SCN4A):c.4125_4126inv (p.Asn1376Asp)
NM_000334.4(SCN4A):c.4127A>C (p.Asn1376Thr)
NM_000334.4(SCN4A):c.4128C>A (p.Asn1376Lys)
NM_000334.4(SCN4A):c.4128C>T (p.Asn1376=)
NM_000334.4(SCN4A):c.412A>C (p.Met138Leu) rs749604225
NM_000334.4(SCN4A):c.4144G>A (p.Val1382Met)
NM_000334.4(SCN4A):c.4146G>A (p.Val1382=)
NM_000334.4(SCN4A):c.4149C>T (p.Asp1383=)
NM_000334.4(SCN4A):c.4167C>A (p.Asn1389Lys) rs1908591302
NM_000334.4(SCN4A):c.4167C>T (p.Asn1389=) rs1908591302
NM_000334.4(SCN4A):c.4168A>G (p.Met1390Val) rs754311975
NM_000334.4(SCN4A):c.4171A>G (p.Ile1391Val)
NM_000334.4(SCN4A):c.4177A>G (p.Ile1393Val)
NM_000334.4(SCN4A):c.4183A>G (p.Ile1395Val) rs1908590330
NM_000334.4(SCN4A):c.418A>G (p.Thr140Ala)
NM_000334.4(SCN4A):c.4194G>A (p.Gly1398=)
NM_000334.4(SCN4A):c.4198T>A (p.Cys1400Ser) rs2144776208
NM_000334.4(SCN4A):c.4207A>C (p.Lys1403Gln)
NM_000334.4(SCN4A):c.4210A>G (p.Met1404Val)
NM_000334.4(SCN4A):c.4215C>A (p.Leu1405=)
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4223G>A (p.Arg1408His)
NM_000334.4(SCN4A):c.4229A>G (p.Tyr1410Cys) rs2144776160
NM_000334.4(SCN4A):c.4234T>C (p.Phe1412Leu)
NM_000334.4(SCN4A):c.4238C>T (p.Thr1413Ile)
NM_000334.4(SCN4A):c.4274T>C (p.Ile1425Thr)
NM_000334.4(SCN4A):c.4278G>A (p.Leu1426=)
NM_000334.4(SCN4A):c.4278G>T (p.Leu1426=) rs1427540247
NM_000334.4(SCN4A):c.4280C>T (p.Ser1427Phe) rs1908586568
NM_000334.4(SCN4A):c.4286T>C (p.Val1429Ala) rs1267823304
NM_000334.4(SCN4A):c.4288+12G>A
NM_000334.4(SCN4A):c.4288+14G>C
NM_000334.4(SCN4A):c.4288+16T>C
NM_000334.4(SCN4A):c.4288+3G>A
NM_000334.4(SCN4A):c.4288+7G>A rs773803283
NM_000334.4(SCN4A):c.4288+8G>A
NM_000334.4(SCN4A):c.4289-7C>G
NM_000334.4(SCN4A):c.4294G>C (p.Ala1432Pro) rs1383238269
NM_000334.4(SCN4A):c.4296C>T (p.Ala1432=) rs1189085197
NM_000334.4(SCN4A):c.4297C>T (p.Leu1433Phe)
NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro) rs1567816549
NM_000334.4(SCN4A):c.4301C>A (p.Ser1434Tyr) rs1908553663
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000334.4(SCN4A):c.4335G>A (p.Thr1445=)
NM_000334.4(SCN4A):c.4341C>T (p.Phe1447=) rs1908552142
NM_000334.4(SCN4A):c.4342C>G (p.Arg1448Gly) rs121908544
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4344T>A (p.Arg1448=)
NM_000334.4(SCN4A):c.4345G>A (p.Val1449Met) rs1908551755
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4354_4369del (p.Leu1452fs)
NM_000334.4(SCN4A):c.4356G>A (p.Leu1452=) rs754606856
NM_000334.4(SCN4A):c.435C>T (p.Cys145=)
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.4361G>A (p.Arg1454Gln) rs374074988
NM_000334.4(SCN4A):c.4362G>A (p.Arg1454=) rs371698958
NM_000334.4(SCN4A):c.4367G>T (p.Gly1456Val)
NM_000334.4(SCN4A):c.4369C>T (p.Arg1457Cys) rs1473372899
NM_000334.4(SCN4A):c.4371T>C (p.Arg1457=) rs2144774823
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4374C>T (p.Val1458=)
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4383G>A (p.Leu1461=)
NM_000334.4(SCN4A):c.4387C>T (p.Arg1463Cys)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu) rs771340029
NM_000334.4(SCN4A):c.4389C>A (p.Arg1463=) rs763124097
NM_000334.4(SCN4A):c.4390G>C (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4390G>T (p.Gly1464Trp)
NM_000334.4(SCN4A):c.4395C>T (p.Ala1465=) rs2144774757
NM_000334.4(SCN4A):c.4396A>G (p.Lys1466Glu)
NM_000334.4(SCN4A):c.4401C>T (p.Gly1467=)
NM_000334.4(SCN4A):c.4405C>T (p.Arg1469Trp)
NM_000334.4(SCN4A):c.4410G>T (p.Thr1470=)
NM_000334.4(SCN4A):c.4415T>C (p.Leu1472Pro) rs1057520169
NM_000334.4(SCN4A):c.4424T>C (p.Leu1475Pro)
NM_000334.4(SCN4A):c.4426A>C (p.Met1476Leu)
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr) rs1064795409
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile) rs121908559
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000334.4(SCN4A):c.4434G>C (p.Ser1478=) rs753725579
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp) rs763893717
NM_000334.4(SCN4A):c.4455C>T (p.Ile1485=)
NM_000334.4(SCN4A):c.4456G>A (p.Gly1486Ser)
NM_000334.4(SCN4A):c.4457G>T (p.Gly1486Val) rs1567816424
NM_000334.4(SCN4A):c.4458C>T (p.Gly1486=)
NM_000334.4(SCN4A):c.4459C>T (p.Leu1487Phe) rs1908545064
NM_000334.4(SCN4A):c.4464C>T (p.Leu1488=) rs377064207
NM_000334.4(SCN4A):c.4472del (p.Leu1491fs)
NM_000334.4(SCN4A):c.4474G>A (p.Val1492Ile)
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val) rs1280474636
NM_000334.4(SCN4A):c.447C>T (p.Thr149=)
NM_000334.4(SCN4A):c.4485C>G (p.Ile1495Met)
NM_000334.4(SCN4A):c.4488C>T (p.Tyr1496=)
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.448A>G (p.Met150Val)
NM_000334.4(SCN4A):c.4490C>A (p.Ser1497Tyr) rs2144774561
NM_000334.4(SCN4A):c.449T>A (p.Met150Lys) rs1009083383
NM_000334.4(SCN4A):c.449T>C (p.Met150Thr)
NM_000334.4(SCN4A):c.4500C>T (p.Gly1500=)
NM_000334.4(SCN4A):c.4507A>G (p.Asn1503Asp)
NM_000334.4(SCN4A):c.4518C>T (p.Tyr1506=)
NM_000334.4(SCN4A):c.4522A>G (p.Lys1508Glu) rs1555600752
NM_000334.4(SCN4A):c.4524G>A (p.Lys1508=)
NM_000334.4(SCN4A):c.4541A>C (p.Asp1514Ala)
NM_000334.4(SCN4A):c.4544A>G (p.Asp1515Gly)
NM_000334.4(SCN4A):c.4555T>A (p.Phe1519Ile)
NM_000334.4(SCN4A):c.4557C>A (p.Phe1519Leu) rs931435454
NM_000334.4(SCN4A):c.4557C>T (p.Phe1519=)
NM_000334.4(SCN4A):c.4558G>A (p.Glu1520Lys) rs898253712
NM_000334.4(SCN4A):c.4563C>G (p.Thr1521=)
NM_000334.4(SCN4A):c.4564T>G (p.Phe1522Val)
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp) rs1285419994
NM_000334.4(SCN4A):c.456C>T (p.Asp152=)
NM_000334.4(SCN4A):c.4585C>T (p.Leu1529=)
NM_000334.4(SCN4A):c.4591G>A (p.Glu1531Lys) rs1555600732
NM_000334.4(SCN4A):c.4601C>A (p.Thr1534Lys) rs939785324
NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4605G>C (p.Ser1535=) rs182438287
NM_000334.4(SCN4A):c.4610G>C (p.Gly1537Ala)
NM_000334.4(SCN4A):c.4615G>A (p.Asp1539Asn)
NM_000334.4(SCN4A):c.4615G>C (p.Asp1539His)
NM_000334.4(SCN4A):c.4618G>A (p.Gly1540Arg)
NM_000334.4(SCN4A):c.461C>T (p.Pro154Leu) rs2144814296
NM_000334.4(SCN4A):c.4642A>G (p.Ser1548Gly) rs1567816311
NM_000334.4(SCN4A):c.4645G>A (p.Gly1549Arg) rs748122664
NM_000334.4(SCN4A):c.4646G>A (p.Gly1549Glu)
NM_000334.4(SCN4A):c.4648C>A (p.Pro1550Thr)
NM_000334.4(SCN4A):c.4653A>T (p.Pro1551=)
NM_000334.4(SCN4A):c.4660G>T (p.Asp1554Tyr)
NM_000334.4(SCN4A):c.4678C>A (p.Pro1560Thr)
NM_000334.4(SCN4A):c.4692C>T (p.Val1564=)
NM_000334.4(SCN4A):c.4693A>G (p.Lys1565Glu) rs1432251380
NM_000334.4(SCN4A):c.4696G>A (p.Gly1566Ser) rs1908533993
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.4713C>G (p.Pro1571=)
NM_000334.4(SCN4A):c.4716C>T (p.Ser1572=) rs903281617
NM_000334.4(SCN4A):c.4717A>G (p.Ile1573Val)
NM_000334.4(SCN4A):c.4719C>A (p.Ile1573=) rs562551941
NM_000334.4(SCN4A):c.472A>G (p.Lys158Glu) rs1555604989
NM_000334.4(SCN4A):c.4730T>A (p.Phe1577Tyr)
NM_000334.4(SCN4A):c.4743T>C (p.Tyr1581=)
NM_000334.4(SCN4A):c.4744A>G (p.Ile1582Val)
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe)
NM_000334.4(SCN4A):c.4759_4761del (p.Leu1587del)
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.4781T>A (p.Ile1594Asn)
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser) rs761947899
NM_000334.4(SCN4A):c.479T>G (p.Val160Gly) rs2144814286
NM_000334.4(SCN4A):c.4815A>T (p.Thr1605=)
NM_000334.4(SCN4A):c.4819G>A (p.Glu1607Lys)
NM_000334.4(SCN4A):c.482+10C>T rs1597987667
NM_000334.4(SCN4A):c.482+3A>G
NM_000334.4(SCN4A):c.4823G>C (p.Ser1608Thr) rs1908528535
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4827C>G (p.Ser1609Arg)
NM_000334.4(SCN4A):c.483-16G>A rs1597987551
NM_000334.4(SCN4A):c.483-18C>T
NM_000334.4(SCN4A):c.483-2dup rs1909619860
NM_000334.4(SCN4A):c.483-3C>A rs759754258
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-3C>T rs759754258
NM_000334.4(SCN4A):c.483-3del rs753162147
NM_000334.4(SCN4A):c.483-3dup rs753162147
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.483-4C>T
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000334.4(SCN4A):c.483-6C>G
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.483-9C>T rs201552497
NM_000334.4(SCN4A):c.4831C>A (p.Pro1611Thr)
NM_000334.4(SCN4A):c.4833C>G (p.Pro1611=)
NM_000334.4(SCN4A):c.4836T>A (p.Leu1612=) rs1393932690
NM_000334.4(SCN4A):c.4837G>C (p.Gly1613Arg)
NM_000334.4(SCN4A):c.4844A>G (p.Asp1615Gly) rs2144773991
NM_000334.4(SCN4A):c.4868_4869inv (p.Thr1623Met)
NM_000334.4(SCN4A):c.4884C>A (p.Asp1628Glu)
NM_000334.4(SCN4A):c.4893C>T (p.Ala1631=)
NM_000334.4(SCN4A):c.4894A>T (p.Thr1632Ser)
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu) rs2144773878
NM_000334.4(SCN4A):c.4906G>A (p.Ala1636Thr)
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.4915C>T (p.Arg1639Cys) rs776231847
NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met) rs775486265
NM_000334.4(SCN4A):c.4938C>G (p.Thr1646=)
NM_000334.4(SCN4A):c.4945G>A (p.Glu1649Lys)
NM_000334.4(SCN4A):c.494C>T (p.Thr165Ile) rs1322561669
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.498G>A (p.Gly166=) rs2144813932
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.499A>T (p.Ile167Phe)
NM_000334.4(SCN4A):c.5008C>T (p.Pro1670Ser)
NM_000334.4(SCN4A):c.501del (p.Tyr168fs)
NM_000334.4(SCN4A):c.5024A>G (p.His1675Arg)
NM_000334.4(SCN4A):c.5025C>A (p.His1675Gln)
NM_000334.4(SCN4A):c.5027G>C (p.Cys1676Ser)
NM_000334.4(SCN4A):c.5036T>C (p.Ile1679Thr) rs2144773647
NM_000334.4(SCN4A):c.5048T>A (p.Leu1683Gln)
NM_000334.4(SCN4A):c.5051C>T (p.Thr1684Ile) rs541964442
NM_000334.4(SCN4A):c.5056G>A (p.Glu1686Lys)
NM_000334.4(SCN4A):c.5061C>T (p.Val1687=) rs1598404879
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.5075G>C (p.Gly1692Ala)
NM_000334.4(SCN4A):c.5102T>C (p.Met1701Thr) rs2144773551
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>T (p.Glu1702Val) rs1555600604
NM_000334.4(SCN4A):c.5106G>C (p.Glu1702Asp)
NM_000334.4(SCN4A):c.5110_5112del (p.Lys1704del) rs1598404848
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5115C>A (p.Phe1705Leu) rs1908515104
NM_000334.4(SCN4A):c.5120C>T (p.Ala1707Val)
NM_000334.4(SCN4A):c.5124C>T (p.Ala1708=) rs1555600600
NM_000334.4(SCN4A):c.5130C>T (p.Pro1710=)
NM_000334.4(SCN4A):c.5142C>T (p.Ser1714=) rs2144773471
NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)
NM_000334.4(SCN4A):c.514T>G (p.Ser172Ala)
NM_000334.4(SCN4A):c.5154C>G (p.Ile1718Met) rs2144773462
NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)
NM_000334.4(SCN4A):c.5160C>T (p.Thr1720=)
NM_000334.4(SCN4A):c.5162C>T (p.Thr1721Ile) rs1172419975
NM_000334.4(SCN4A):c.5169G>A (p.Lys1723=) rs1477243382
NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys) rs539487509
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
NM_000334.4(SCN4A):c.5178C>T (p.His1726=)
NM_000334.4(SCN4A):c.5179G>A (p.Glu1727Lys)
NM_000334.4(SCN4A):c.5185G>A (p.Val1729Met)
NM_000334.4(SCN4A):c.5192C>T (p.Ala1731Val)
NM_000334.4(SCN4A):c.5208G>A (p.Arg1736=)
NM_000334.4(SCN4A):c.5214C>T (p.Tyr1738=) rs760885982
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5219G>A (p.Arg1740Gln)
NM_000334.4(SCN4A):c.5220G>A (p.Arg1740=) rs767847345
NM_000334.4(SCN4A):c.5221C>A (p.His1741Asn)
NM_000334.4(SCN4A):c.5224C>T (p.Leu1742=)
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=) rs1908508905
NM_000334.4(SCN4A):c.522C>T (p.Ile174=)
NM_000334.4(SCN4A):c.5240T>C (p.Met1747Thr)
NM_000334.4(SCN4A):c.5243A>G (p.Lys1748Arg)
NM_000334.4(SCN4A):c.5248G>A (p.Ala1750Thr)
NM_000334.4(SCN4A):c.5254T>C (p.Tyr1752His)
NM_000334.4(SCN4A):c.5258T>C (p.Met1753Thr) rs1908507017
NM_000334.4(SCN4A):c.5262C>T (p.Tyr1754=)
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.5264G>T (p.Arg1755Leu)
NM_000334.4(SCN4A):c.5277C>G (p.Asp1759Glu) rs548333586
NM_000334.4(SCN4A):c.5282G>A (p.Ser1761Asn)
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5286G>C (p.Gly1762=) rs1249593659
NM_000334.4(SCN4A):c.5286G>T (p.Gly1762=)
NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn) rs2144773136
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly) rs1567815771
NM_000334.4(SCN4A):c.5294C>A (p.Ala1765Asp)
NM_000334.4(SCN4A):c.5298T>C (p.Pro1766=)
NM_000334.4(SCN4A):c.529C>T (p.Leu177=)
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5308G>A (p.Gly1770Arg)
NM_000334.4(SCN4A):c.5316T>C (p.Leu1772=) rs1908503239
NM_000334.4(SCN4A):c.5319C>T (p.Ala1773=) rs746696835
NM_000334.4(SCN4A):c.532G>A (p.Ala178Thr)
NM_000334.4(SCN4A):c.5334G>T (p.Lys1778Asn) rs779474162
NM_000334.4(SCN4A):c.5337G>A (p.Met1779Ile)
NM_000334.4(SCN4A):c.5340T>C (p.Tyr1780=) rs1038392410
NM_000334.4(SCN4A):c.5359A>C (p.Ser1787Arg) rs751841516
NM_000334.4(SCN4A):c.5359A>G (p.Ser1787Gly)
NM_000334.4(SCN4A):c.5361C>T (p.Ser1787=)
NM_000334.4(SCN4A):c.5363G>A (p.Ser1788Asn)
NM_000334.4(SCN4A):c.5377GAG[1] (p.Glu1794del) rs1908499632
NM_000334.4(SCN4A):c.5386G>A (p.Gly1796Ser) rs2144772958
NM_000334.4(SCN4A):c.5387G>A (p.Gly1796Asp)
NM_000334.4(SCN4A):c.5398G>A (p.Asp1800Asn)
NM_000334.4(SCN4A):c.5403C>A (p.Ala1801=)
NM_000334.4(SCN4A):c.5409C>T (p.Pro1803=)
NM_000334.4(SCN4A):c.5409dup (p.Thr1804fs)
NM_000334.4(SCN4A):c.5413A>G (p.Met1805Val)
NM_000334.4(SCN4A):c.5417G>A (p.Gly1806Glu) rs2144772881
NM_000334.4(SCN4A):c.5420_5425del6 rs781515976
NM_000334.4(SCN4A):c.5429T>C (p.Ile1810Thr)
NM_000334.4(SCN4A):c.5435C>A (p.Pro1812His)
NM_000334.4(SCN4A):c.5438C>A (p.Ser1813Ter) rs2144772835
NM_000334.4(SCN4A):c.5442C>T (p.Asp1814=) rs2144772830
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5451G>A (p.Trp1817Ter)
NM_000334.4(SCN4A):c.5453C>T (p.Pro1818Leu)
NM_000334.4(SCN4A):c.5458G>A (p.Ala1820Thr)
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5478T>A (p.Thr1826=) rs2227906
NM_000334.4(SCN4A):c.5479G>A (p.Val1827Met)
NM_000334.4(SCN4A):c.5482C>A (p.Arg1828Ser)
NM_000334.4(SCN4A):c.548T>G (p.Val183Gly)
NM_000334.4(SCN4A):c.5498A>T (p.Glu1833Val)
NM_000334.4(SCN4A):c.550G>A (p.Asp184Asn)
NM_000334.4(SCN4A):c.554A>T (p.Asp185Val)
NM_000334.4(SCN4A):c.555C>T (p.Asp185=)
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala) rs772628295
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.575C>G (p.Pro192Arg)
NM_000334.4(SCN4A):c.592T>C (p.Phe198Leu) rs1438145853
NM_000334.4(SCN4A):c.596G>T (p.Ser199Ile)
NM_000334.4(SCN4A):c.598G>A (p.Val200Ile) rs2144813782
NM_000334.4(SCN4A):c.5C>T (p.Ala2Val)
NM_000334.4(SCN4A):c.600C>A (p.Val200=)
NM_000334.4(SCN4A):c.604A>G (p.Met202Val)
NM_000334.4(SCN4A):c.605T>C (p.Met202Thr)
NM_000334.4(SCN4A):c.605T>G (p.Met202Arg)
NM_000334.4(SCN4A):c.606G>T (p.Met202Ile) rs769107760
NM_000334.4(SCN4A):c.611+11del
NM_000334.4(SCN4A):c.611+12C>T
NM_000334.4(SCN4A):c.611+15C>T
NM_000334.4(SCN4A):c.611+16_611+24del
NM_000334.4(SCN4A):c.611+1G>A
NM_000334.4(SCN4A):c.611+3_611+7delinsAACC
NM_000334.4(SCN4A):c.612-11C>T
NM_000334.4(SCN4A):c.612-15C>A
NM_000334.4(SCN4A):c.612-17del rs542836462
NM_000334.4(SCN4A):c.612-18C>G
NM_000334.4(SCN4A):c.612-18C>T
NM_000334.4(SCN4A):c.612-19C>A
NM_000334.4(SCN4A):c.612-19C>G rs550132900
NM_000334.4(SCN4A):c.612-20C>T
NM_000334.4(SCN4A):c.612-5C>A rs1289035327
NM_000334.4(SCN4A):c.612-8C>T rs1909599791
NM_000334.4(SCN4A):c.612-9C>G
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala) rs1567829142
NM_000334.4(SCN4A):c.628G>A (p.Val210Met) rs1389274007
NM_000334.4(SCN4A):c.633C>T (p.Asp211=)
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000334.4(SCN4A):c.64C>G (p.Arg22Gly)
NM_000334.4(SCN4A):c.652C>T (p.Leu218=)
NM_000334.4(SCN4A):c.65G>A (p.Arg22Gln) rs1413223155
NM_000334.4(SCN4A):c.678C>T (p.Ala226=)
NM_000334.4(SCN4A):c.685A>G (p.Thr229Ala) rs2144813124
NM_000334.4(SCN4A):c.688A>G (p.Ile230Val) rs2144813120
NM_000334.4(SCN4A):c.693G>A (p.Thr231=)
NM_000334.4(SCN4A):c.703+3A>T
NM_000334.4(SCN4A):c.703+8G>A
NM_000334.4(SCN4A):c.704-12C>G
NM_000334.4(SCN4A):c.704-6G>A
NM_000334.4(SCN4A):c.704-6G>C rs368225907
NM_000334.4(SCN4A):c.704-7C>T
NM_000334.4(SCN4A):c.706C>T (p.Leu236=) rs1253475807
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys) rs201661188
NM_000334.4(SCN4A):c.714G>A (p.Thr238=)
NM_000334.4(SCN4A):c.715A>G (p.Ile239Val) rs1909519361
NM_000334.4(SCN4A):c.717C>T (p.Ile239=) rs568242866
NM_000334.4(SCN4A):c.723G>A (p.Gly241=)
NM_000334.4(SCN4A):c.724G>T (p.Ala242Ser)
NM_000334.4(SCN4A):c.733C>A (p.Gln245Lys) rs2144810270
NM_000334.4(SCN4A):c.735G>T (p.Gln245His)
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000334.4(SCN4A):c.73C>T (p.Leu25=) rs1597988304
NM_000334.4(SCN4A):c.748C>A (p.Leu250Met)
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro) rs1057521065
NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg) rs1057521065
NM_000334.4(SCN4A):c.753G>A (p.Ser251=)
NM_000334.4(SCN4A):c.754G>A (p.Asp252Asn)
NM_000334.4(SCN4A):c.760A>G (p.Met254Val)
NM_000334.4(SCN4A):c.768C>G (p.Leu256=) rs1597985505
NM_000334.4(SCN4A):c.789C>T (p.Val263=)
NM_000334.4(SCN4A):c.792T>C (p.Phe264=)
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu) rs749502925
NM_000334.4(SCN4A):c.795G>A (p.Ala265=)
NM_000334.4(SCN4A):c.803G>C (p.Gly268Ala)
NM_000334.4(SCN4A):c.804A>G (p.Gly268=)
NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys) rs1597985462
NM_000334.4(SCN4A):c.811C>T (p.Leu271Phe)
NM_000334.4(SCN4A):c.830G>A (p.Arg277Lys)
NM_000334.4(SCN4A):c.834G>A (p.Gln278=)
NM_000334.4(SCN4A):c.840T>C (p.Cys280=) rs1555604611
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys)
NM_000334.4(SCN4A):c.854C>T (p.Pro285Leu)
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.87A>G (p.Glu29=) rs2143027796
NM_000334.4(SCN4A):c.883T>A (p.Tyr295Asn)
NM_000334.4(SCN4A):c.885C>T (p.Tyr295=)
NM_000334.4(SCN4A):c.886_903dup (p.Ser296_Tyr301dup) rs769414184
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
NM_000334.4(SCN4A):c.897_914del (p.298DTWYGN[1])
NM_000334.4(SCN4A):c.908A>G (p.Asn303Ser)
NM_000334.4(SCN4A):c.909T>A (p.Asn303Lys)
NM_000334.4(SCN4A):c.90G>T (p.Gln30His)
NM_000334.4(SCN4A):c.912_929del (p.298_303DTWYGN[1]) rs1597985318
NM_000334.4(SCN4A):c.915A>T (p.Thr305=)
NM_000334.4(SCN4A):c.916T>C (p.Trp306Arg)
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)
NM_000334.4(SCN4A):c.922G>A (p.Gly308Ser)
NM_000334.4(SCN4A):c.923_958del (p.Gly308_Tyr319del) rs776326538
NM_000334.4(SCN4A):c.92G>A (p.Arg31Gln)
NM_000334.4(SCN4A):c.938A>G (p.Tyr313Cys)
NM_000334.4(SCN4A):c.940G>A (p.Gly314Ser)
NM_000334.4(SCN4A):c.943A>C (p.Asn315His)
NM_000334.4(SCN4A):c.948C>T (p.Asp316=)
NM_000334.4(SCN4A):c.954G>T (p.Trp318Cys) rs779130822
NM_000334.4(SCN4A):c.956A>G (p.Tyr319Cys)
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000334.4(SCN4A):c.95C>T (p.Ala32Val)
NM_000334.4(SCN4A):c.975C>T (p.Asn325=)
NM_000334.4(SCN4A):c.985A>G (p.Ser329Gly)
NM_000334.4(SCN4A):c.992C>T (p.Ala331Val)
NM_000891.3(KCNJ2):c.-217+1029_422del
NM_000891.3(KCNJ2):c.1005C>T (p.His335=) rs2144377784
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg) rs772815957
NM_000891.3(KCNJ2):c.1025C>G (p.Ser342Cys)
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=) rs1476737505
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys) rs2144377812
NM_000891.3(KCNJ2):c.1044C>G (p.Tyr348Ter)
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=) rs2144377840
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=) rs1473243559
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe) rs1411366891
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe) rs368406938
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val) rs2074391294
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg) rs1060500054
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn) rs2144377919
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs) rs1567823248
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His) rs2144377937
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser) rs2144377959
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu) rs780233256
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys) rs2144377969
NM_000891.3(KCNJ2):c.1127A>G (p.Tyr376Cys)
NM_000891.3(KCNJ2):c.1141G>A (p.Ala381Thr)
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter) rs786205811
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn) rs1567823283
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn) rs1598211624
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr) rs1598211624
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro) rs766143485
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=) rs1279223538
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs) rs2074392185
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu) rs863224374
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=) rs863224374
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe) rs753757610
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys) rs910587867
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile) rs779960704
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000891.3(KCNJ2):c.1260C>A (p.Pro420=)
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=) rs1257779655
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp) rs1478741381
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu) rs199473390
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=) rs2144376459
NM_000891.3(KCNJ2):c.1274C>T (p.Ser425Leu)
NM_000891.3(KCNJ2):c.1276G>A (p.Glu426Lys)
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys) rs2144376473
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly) rs2074385043
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys) rs2074385043
NM_000891.3(KCNJ2):c.137G>A (p.Arg46His)
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter) rs1042485
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg) rs1598211051
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly) rs2144376507
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=) rs2144376552
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=) rs2144376313
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg) rs2144376559
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=) rs1007358932
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) rs375605948
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His) rs199473369
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
NM_000891.3(KCNJ2):c.215T>C (p.Ile72Thr)
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly) rs786205812
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His) rs199473372
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr) rs199473372
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys) rs2074385891
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His) rs2144376668
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
NM_000891.3(KCNJ2):c.256G>T (p.Val86Phe) rs786205814
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val) rs748958117
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr) rs2144376712
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=) rs1388829981
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro) rs2144376751
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del) rs2074386225
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val) rs1598211153
NM_000891.3(KCNJ2):c.29G>A (p.Ser10Asn)
NM_000891.3(KCNJ2):c.306G>C (p.Val102=) rs2144376790
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=) rs2074386434
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=) rs371331394
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=) rs900684102
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro) rs1567822991
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=) rs2144376829
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) rs2074386589
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys) rs2144376873
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys) rs2074386756
NM_000891.3(KCNJ2):c.378C>A (p.Val126=)
NM_000891.3(KCNJ2):c.381C>G (p.Asn127Lys)
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr) rs2074386902
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn) rs772055408
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile) rs1060500052
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=) rs2144376348
NM_000891.3(KCNJ2):c.42AGA[2] (p.Glu16del)
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala) rs199473377
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
NM_000891.3(KCNJ2):c.432C>G (p.Gly144=)
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys) rs2074387117
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser) rs199473654
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp) rs199473379
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
NM_000891.3(KCNJ2):c.460T>C (p.Cys154Arg)
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly) rs2144376982
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_000891.3(KCNJ2):c.46G>C (p.Glu16Gln)
NM_000891.3(KCNJ2):c.477C>T (p.Phe159=)
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met) rs2074387480
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=) rs1470684052
NM_000891.3(KCNJ2):c.496A>G (p.Ile166Val)
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu) rs140147979
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup) rs2144377032
NM_000891.3(KCNJ2):c.50A>G (p.Asp17Gly)
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn) rs104894584
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser) rs778699148
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu) rs761209037
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser) rs947488726
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
NM_000891.3(KCNJ2):c.556C>A (p.Pro186Thr)
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln) rs104894581
NM_000891.3(KCNJ2):c.55A>T (p.Met19Leu)
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr) rs199473381
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile) rs1598211282
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile) rs199473655
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His) rs1555603955
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
NM_000891.3(KCNJ2):c.591C>G (p.His197Gln)
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=) rs767844416
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
NM_000891.3(KCNJ2):c.624G>A (p.Leu208=)
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter) rs2144377213
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile) rs2074388429
NM_000891.3(KCNJ2):c.64G>A (p.Ala22Thr)
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu) rs199473384
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn) rs2074388522
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly) rs1555603969
NM_000891.3(KCNJ2):c.673G>A (p.Ala225Thr)
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter) rs1060500053
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln) rs1234083049
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=) rs758144475
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=) rs2074388781
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter) rs1555603974
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
NM_000891.3(KCNJ2):c.721del (p.Glu241fs) rs2074388917
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=) rs1057524125
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) rs199473385
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val) rs2074389312
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
NM_000891.3(KCNJ2):c.792G>A (p.Val264=) rs2144377441
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=) rs1381202025
NM_000891.3(KCNJ2):c.79G>A (p.Ala27Thr)
NM_000891.3(KCNJ2):c.810C>T (p.Val270=) rs1049263340
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=) rs2074389639
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=) rs2144377560
NM_000891.3(KCNJ2):c.867C>A (p.Asn289Lys)
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln) rs2144377579
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=) rs1027878057
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu) rs786205818
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val) rs786205818
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser) rs2144377666
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile) rs199473388
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg) rs1598211487
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
NM_000891.3(KCNJ2):c.97G>A (p.Gly33Arg) rs375727662
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg) rs375727662
NM_000891.3(KCNJ2):c.981G>T (p.Glu327Asp)
NM_000891.3(KCNJ2):c.985G>C (p.Val329Leu)
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=) rs2144377764

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