ClinVar Miner

List of variants in gene CACNA1S

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 578
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HGVS dbSNP
NC_000001.11:g.201069467G>A
NC_000001.11:g.201073349_201073351del
NC_000001.11:g.201074175del
NC_000001.11:g.201074718_201074719del
NC_000001.11:g.201093879C>T
NC_000001.11:g.201094164dup
NC_000001.11:g.201110107C>T
NC_000001.11:g.201112156del
NC_000001.11:g.201112570T>C
NC_000001.11:g.201112649C>G
NC_000001.11:g.201112815C>G
NC_000001.11:g.201112815C>T
NM_000069.2(CACNA1S):c.-110C>T rs529955487
NM_000069.2(CACNA1S):c.-140C>T rs547864807
NM_000069.2(CACNA1S):c.-147C>T rs886045805
NM_000069.2(CACNA1S):c.-206C>T rs886045806
NM_000069.2(CACNA1S):c.-213G>A rs536755317
NM_000069.2(CACNA1S):c.-231A>G rs4506487
NM_000069.2(CACNA1S):c.-476G>A rs2281845
NM_000069.2(CACNA1S):c.2854-17_2854-14dup rs747117832
NM_000069.2(CACNA1S):c.695-6delC rs748832613
NM_000069.3(CACNA1S):c.*104T>C rs186777514
NM_000069.3(CACNA1S):c.*109G>T rs886045793
NM_000069.3(CACNA1S):c.*163G>A rs200126670
NM_000069.3(CACNA1S):c.*183C>T rs886045792
NM_000069.3(CACNA1S):c.*260T>A rs886045791
NM_000069.3(CACNA1S):c.*310A>T rs190783634
NM_000069.3(CACNA1S):c.*87G>A rs577214090
NM_000069.3(CACNA1S):c.-4A>G rs200408018
NM_000069.3(CACNA1S):c.-60A>G rs145803564
NM_000069.3(CACNA1S):c.-68T>C rs140748567
NM_000069.3(CACNA1S):c.-83C>T rs116071603
NM_000069.3(CACNA1S):c.1004+205A>G
NM_000069.3(CACNA1S):c.1005-154C>T
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp)
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081
NM_000069.3(CACNA1S):c.1106G>A (p.Trp369Ter) rs1558076931
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479
NM_000069.3(CACNA1S):c.1149A>G (p.Glu383=)
NM_000069.3(CACNA1S):c.1151-38C>A
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)
NM_000069.3(CACNA1S):c.1193T>A (p.Leu398Gln) rs879255337
NM_000069.3(CACNA1S):c.1233-111G>A
NM_000069.3(CACNA1S):c.1233-190C>T
NM_000069.3(CACNA1S):c.1233-293C>T
NM_000069.3(CACNA1S):c.1233-40C>T
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) rs1558075630
NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val)
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met)
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=) rs767568799
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886
NM_000069.3(CACNA1S):c.1393+18G>T rs199625342
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512
NM_000069.3(CACNA1S):c.1393+91A>G
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.3(CACNA1S):c.1408G>T (p.Val470Leu) rs867624444
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) rs1384040104
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874
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.1502G>T (p.Cys501Phe) rs767628675
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) rs762294904
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714
NM_000069.3(CACNA1S):c.152+14C>T rs201285556
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.152+299T>C
NM_000069.3(CACNA1S):c.152+56G>A
NM_000069.3(CACNA1S):c.153-166G>A
NM_000069.3(CACNA1S):c.153-193G>T
NM_000069.3(CACNA1S):c.153-321G>A
NM_000069.3(CACNA1S):c.153-61A>T
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766
NM_000069.3(CACNA1S):c.1558A>C (p.Thr520Pro) rs1182197306
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly) rs80338778
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)
NM_000069.3(CACNA1S):c.159C>T (p.Phe53=) rs199720439
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501
NM_000069.3(CACNA1S):c.1619+299C>A
NM_000069.3(CACNA1S):c.1620-124A>C
NM_000069.3(CACNA1S):c.1620-133T>C
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884
NM_000069.3(CACNA1S):c.1664C>G (p.Ser555Cys) rs1558071888
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) rs763794604
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe)
NM_000069.3(CACNA1S):c.1725C>T (p.Leu575=) rs886045800
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=)
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) rs762032797
NM_000069.3(CACNA1S):c.1792_1794del (p.Asp598del)
NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) rs1558071742
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1827+3A>G rs1057522801
NM_000069.3(CACNA1S):c.1827+6C>T
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094
NM_000069.3(CACNA1S):c.187G>T (p.Ala63Ser) rs886045804
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser)
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669
NM_000069.3(CACNA1S):c.1948+19G>A rs886038222
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829
NM_000069.3(CACNA1S):c.1948+279G>A
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115
NM_000069.3(CACNA1S):c.196G>A (p.Val66Met) rs886045803
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783
NM_000069.3(CACNA1S):c.200C>T (p.Ala67Val) rs1553254116
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133
NM_000069.3(CACNA1S):c.2063+253C>T
NM_000069.3(CACNA1S):c.2063+333G>A
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.2064-213C>T
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.3(CACNA1S):c.2086_2088GAG[1] (p.Glu697del)
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=) rs774160640
NM_000069.3(CACNA1S):c.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) rs1473781692
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) rs1057524027
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757
NM_000069.3(CACNA1S):c.2157+1G>A
NM_000069.3(CACNA1S):c.2157+59C>T
NM_000069.3(CACNA1S):c.2187C>T (p.Val729=) rs770255183
NM_000069.3(CACNA1S):c.2207A>T (p.Tyr736Phe)
NM_000069.3(CACNA1S):c.2227+15G>A rs192276596
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu)
NM_000069.3(CACNA1S):c.2259G>A (p.Pro753=) rs200971359
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) rs1427158400
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687
NM_000069.3(CACNA1S):c.2327C>A (p.Ala776Asp) rs1428214499
NM_000069.3(CACNA1S):c.2331C>T (p.Ser777=) rs749013125
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2361-269A>C
NM_000069.3(CACNA1S):c.2361-3C>T
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518
NM_000069.3(CACNA1S):c.2395A>T (p.Thr799Ser)
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536
NM_000069.3(CACNA1S):c.2419C>T (p.Leu807Phe) rs773958053
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524
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.2467C>T (p.Arg823Trp) rs199758244
NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) rs1558067487
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.3(CACNA1S):c.2490+5C>T
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
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.252C>T (p.Leu84=) rs112868209
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)
NM_000069.3(CACNA1S):c.2550+303A>G
NM_000069.3(CACNA1S):c.2551-192A>G
NM_000069.3(CACNA1S):c.2551-286C>G
NM_000069.3(CACNA1S):c.2551-76C>T
NM_000069.3(CACNA1S):c.2556G>A (p.Thr852=) rs1160627876
NM_000069.3(CACNA1S):c.2561A>C (p.Tyr854Ser) rs886045799
NM_000069.3(CACNA1S):c.2562C>T (p.Tyr854=) rs373510147
NM_000069.3(CACNA1S):c.258+199_258+200dup
NM_000069.3(CACNA1S):c.258+204C>T
NM_000069.3(CACNA1S):c.258+271T>C
NM_000069.3(CACNA1S):c.258+57G>A rs1325310
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794
NM_000069.3(CACNA1S):c.259-43C>T
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His) rs545411173
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883
NM_000069.3(CACNA1S):c.2658-163C>A
NM_000069.3(CACNA1S):c.2658-44T>A
NM_000069.3(CACNA1S):c.2658-9G>A rs367580345
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2692G>A (p.Val898Met) rs551951002
NM_000069.3(CACNA1S):c.2694G>T (p.Val898=) rs1553250516
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.2746-123del
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2748C>G (p.His916Gln) rs2297902
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
NM_000069.3(CACNA1S):c.2752G>T (p.Val918Leu) rs1558065059
NM_000069.3(CACNA1S):c.2753T>C (p.Val918Ala) rs1558065055
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.3(CACNA1S):c.2755C>T (p.Gln919Ter) rs1558065045
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899
NM_000069.3(CACNA1S):c.2767G>C (p.Val923Leu) rs571902899
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795
NM_000069.3(CACNA1S):c.2854-2A>C
NM_000069.3(CACNA1S):c.2854-89C>G
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=) rs138328785
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480
NM_000069.3(CACNA1S):c.2907-16G>A
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2921T>A (p.Val974Glu)
NM_000069.3(CACNA1S):c.2952G>A (p.Glu984=) rs1553250091
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525
NM_000069.3(CACNA1S):c.2960A>G (p.His987Arg) rs201174511
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501
NM_000069.3(CACNA1S):c.3054-72C>T
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)
NM_000069.3(CACNA1S):c.3111C>A (p.Asn1037Lys) rs143836984
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845
NM_000069.3(CACNA1S):c.3144C>T (p.Tyr1048=) rs1468895414
NM_000069.3(CACNA1S):c.3157G>A (p.Ala1053Thr) rs1558062351
NM_000069.3(CACNA1S):c.315C>T (p.Ile105=) rs756365041
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.3189C>T (p.Phe1063=) rs150020550
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
NM_000069.3(CACNA1S):c.3245A>G (p.Asp1082Gly) rs1558062219
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000069.3(CACNA1S):c.3257G>T (p.Arg1086Leu) rs1800559
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser)
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys)
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548
NM_000069.3(CACNA1S):c.3337T>C (p.Tyr1113His) rs1553249924
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196
NM_000069.3(CACNA1S):c.3414+67A>G rs28986463
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359
NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys) rs1043042231
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys)
NM_000069.3(CACNA1S):c.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3494T>A (p.Met1165Lys) rs1558061202
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911
NM_000069.3(CACNA1S):c.3525+1G>A
NM_000069.3(CACNA1S):c.3525+7del rs759199210
NM_000069.3(CACNA1S):c.3526-197A>G
NM_000069.3(CACNA1S):c.3526-232C>T
NM_000069.3(CACNA1S):c.3526-2A>G rs797045031
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
NM_000069.3(CACNA1S):c.3569T>A (p.Val1190Asp)
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100
NM_000069.3(CACNA1S):c.3609+11G>A
NM_000069.3(CACNA1S):c.3609+1G>C rs754831666
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387
NM_000069.3(CACNA1S):c.3610-167A>C
NM_000069.3(CACNA1S):c.3610-291C>G
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102
NM_000069.3(CACNA1S):c.3662A>T (p.Asn1221Ile) rs760995210
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile) rs202240111
NM_000069.3(CACNA1S):c.3667-319G>C
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)
NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro) rs774416016
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956
NM_000069.3(CACNA1S):c.373C>T (p.Leu125=) rs1464376202
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg)
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly)
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser)
NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=) rs990173222
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.3(CACNA1S):c.3829C>T (p.Leu1277Phe) rs1558057794
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3862-251T>A
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034
NM_000069.3(CACNA1S):c.3906G>T (p.Arg1302=)
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906
NM_000069.3(CACNA1S):c.3953+66G>C
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.3954-303A>C
NM_000069.3(CACNA1S):c.3954-89C>T
NM_000069.3(CACNA1S):c.3954G>C (p.Arg1318Ser) rs1558056548
NM_000069.3(CACNA1S):c.3970G>A (p.Ala1324Thr) rs886045797
NM_000069.3(CACNA1S):c.398+149A>G
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser)
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433
NM_000069.3(CACNA1S):c.399-145T>A
NM_000069.3(CACNA1S):c.399-14C>T rs116534514
NM_000069.3(CACNA1S):c.399-3T>C rs886045802
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn)
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546
NM_000069.3(CACNA1S):c.4081T>C (p.Phe1361Leu) rs1558056421
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C rs1558056376
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269
NM_000069.3(CACNA1S):c.4114-5T>A rs1421023094
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259
NM_000069.3(CACNA1S):c.4194C>T (p.His1398=) rs368919048
NM_000069.3(CACNA1S):c.4241+183G>A
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.3(CACNA1S):c.4339-14G>A
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4350C>G (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035
NM_000069.3(CACNA1S):c.4385C>A (p.Thr1462Asn)
NM_000069.3(CACNA1S):c.4419G>C (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=) rs200538716
NM_000069.3(CACNA1S):c.4441+22dup
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr)
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His) rs764330337
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr)
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly) rs761768992
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
NM_000069.3(CACNA1S):c.4669-150C>T
NM_000069.3(CACNA1S):c.4679G>T (p.Arg1560Leu)
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=) rs752911523
NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr)
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)
NM_000069.3(CACNA1S):c.4795C>T (p.Arg1599Trp) rs763695518
NM_000069.3(CACNA1S):c.4797+120A>G
NM_000069.3(CACNA1S):c.4798-278G>A
NM_000069.3(CACNA1S):c.4798-2A>G
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219
NM_000069.3(CACNA1S):c.4862T>C (p.Val1621Ala) rs1064796136
NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.3(CACNA1S):c.4962C>G (p.Asn1654Lys) rs370339547
NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=) rs370339547
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)
NM_000069.3(CACNA1S):c.4995C>T (p.Asn1665=) rs183440052
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln)
NM_000069.3(CACNA1S):c.5048+162G>A
NM_000069.3(CACNA1S):c.5048+8C>T
NM_000069.3(CACNA1S):c.5049-145A>G
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517
NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs) rs1558049955
NM_000069.3(CACNA1S):c.5079G>A (p.Glu1693=) rs776228804
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681
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)
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)
NM_000069.3(CACNA1S):c.5134+8C>T rs114243233
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700
NM_000069.3(CACNA1S):c.5135-56A>G
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223
NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr)
NM_000069.3(CACNA1S):c.5199A>G (p.Arg1733=) rs1490186766
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612
NM_000069.3(CACNA1S):c.5227-54T>C
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=) rs374660431
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) rs571114435
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921
NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys) rs1558048332
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635
NM_000069.3(CACNA1S):c.5356C>T (p.Leu1786=) rs371876697
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986
NM_000069.3(CACNA1S):c.5388C>T (p.Gly1796=) rs1553247345
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.5417T>C (p.Phe1806Ser) rs1553247334
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5489C>G (p.Thr1830Arg) rs1553247295
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
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.5592C>T (p.Ser1864=) rs751405561
NM_000069.3(CACNA1S):c.5612C>T (p.Pro1871Leu) rs1553247246
NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg) rs1558047318
NM_000069.3(CACNA1S):c.564del (p.Ile189fs) rs1553252746
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.3(CACNA1S):c.610C>G (p.Leu204Val)
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919
NM_000069.3(CACNA1S):c.639C>T (p.Ile213=) rs1229722414
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)
NM_000069.3(CACNA1S):c.688G>A (p.Gly230Ser) rs754860600
NM_000069.3(CACNA1S):c.694+243G>A
NM_000069.3(CACNA1S):c.695-101A>G
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476
NM_000069.3(CACNA1S):c.707C>A (p.Thr236Lys) rs767790285
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830
NM_000069.3(CACNA1S):c.732del (p.Cys245fs)
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.3(CACNA1S):c.744_745insTCCT (p.Gly249fs) rs1060499846
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His)
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801
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.789C>A (p.Gly263=) rs368173398
NM_000069.3(CACNA1S):c.791_812dup (p.Ile272fs) rs1558079148
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe)
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121
NM_000069.3(CACNA1S):c.900+14C>T rs377170574
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=) rs760398733
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667

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