ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 587
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269 0.00027
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=) rs374324793 0.00017
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.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
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.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492 0.00010
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His) rs748711395 0.00009
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp) rs780390034 0.00009
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 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.542G>C (p.Ser181Thr) rs1046958622 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr) rs763794604 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 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.3906G>T (p.Arg1302=) rs375189627 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.4668+6C>T rs752849401 0.00004
NM_000069.3(CACNA1S):c.5049-6T>C rs372192645 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121 0.00004
NM_000069.3(CACNA1S):c.1384C>T (p.Arg462Cys) rs747376751 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser) rs764602257 0.00003
NM_000069.3(CACNA1S):c.3677A>G (p.Glu1226Gly) rs150164738 0.00003
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624 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.5526G>A (p.Met1842Ile) rs374294701 0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
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.1996G>A (p.Glu666Lys) rs377082783 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 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.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala) rs1251857483 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 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.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp) rs746407476 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.862T>G (p.Cys288Gly) rs201585867 0.00002
NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr) rs1019448884 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.1132G>A (p.Val378Ile) rs577240103 0.00001
NM_000069.3(CACNA1S):c.1151-3C>T rs1661980696 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 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.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) rs376841055 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.1957C>T (p.Leu653Phe) rs757750396 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.209T>C (p.Val70Ala) rs747599178 0.00001
NM_000069.3(CACNA1S):c.2104G>T (p.Ala702Ser) rs1473781692 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 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.2275C>T (p.Arg759Cys) rs777247285 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.239A>G (p.Asn80Ser) rs752667224 0.00001
NM_000069.3(CACNA1S):c.2674G>A (p.Val892Met) rs146823170 0.00001
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) rs1013152799 0.00001
NM_000069.3(CACNA1S):c.2763G>T (p.Met921Ile) rs965862537 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.2921T>A (p.Val974Glu) rs974247677 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 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.3173A>G (p.Asn1058Ser) rs777876303 0.00001
NM_000069.3(CACNA1S):c.3195T>G (p.Ile1065Met) rs767698922 0.00001
NM_000069.3(CACNA1S):c.323A>G (p.Tyr108Cys) rs768322856 0.00001
NM_000069.3(CACNA1S):c.3398T>C (p.Ile1133Thr) rs1558061864 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 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.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.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp) rs769524894 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.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3953+4C>T rs763936268 0.00001
NM_000069.3(CACNA1S):c.3992C>T (p.Ala1331Val) rs1207041561 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.4145A>G (p.Asp1382Gly) rs1007920084 0.00001
NM_000069.3(CACNA1S):c.4165C>T (p.Arg1389Trp) rs376052781 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.4348G>A (p.Gly1450Ser) rs753557812 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.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.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.4717A>T (p.Thr1573Ser) rs147007610 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.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.503G>A (p.Arg168Gln) rs777920946 0.00001
NM_000069.3(CACNA1S):c.5135-3C>T rs1311822511 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635 0.00001
NM_000069.3(CACNA1S):c.5370+6C>A rs769074038 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.5557T>C (p.Ser1853Pro) rs1660060487 0.00001
NM_000069.3(CACNA1S):c.5614A>G (p.Arg1872Gly) rs143345409 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.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000069.3(CACNA1S):c.868A>G (p.Thr290Ala) rs749324671 0.00001
NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe) rs980556708 0.00001
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459 0.00001
NM_000069.3(CACNA1S):c.947C>G (p.Thr316Ser) rs1339416724 0.00001
NC_000001.10:g.(?_201008959)_(201013604_?)dup
NC_000001.10:g.(?_201013436)_(201013604_?)del
NM_000069.3(CACNA1S):c.100C>G (p.Leu34Val)
NM_000069.3(CACNA1S):c.1021C>G (p.Arg341Gly)
NM_000069.3(CACNA1S):c.1021C>T (p.Arg341Trp)
NM_000069.3(CACNA1S):c.103A>C (p.Thr35Pro)
NM_000069.3(CACNA1S):c.103A>G (p.Thr35Ala) rs1663150760
NM_000069.3(CACNA1S):c.1084G>A (p.Asp362Asn)
NM_000069.3(CACNA1S):c.1087C>T (p.Leu363Phe)
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.1119C>T (p.Gly373=)
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+3T>C rs770379814
NM_000069.3(CACNA1S):c.1150+6G>T
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.1218A>T (p.Lys406Asn)
NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)
NM_000069.3(CACNA1S):c.1235G>A (p.Arg412Gln)
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.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1278T>A (p.His426Gln)
NM_000069.3(CACNA1S):c.1282A>G (p.Ile428Val) rs756504992
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.1356G>T (p.Glu452Asp)
NM_000069.3(CACNA1S):c.136A>C (p.Ser46Arg)
NM_000069.3(CACNA1S):c.1403A>G (p.Asn468Ser)
NM_000069.3(CACNA1S):c.1406G>T (p.Arg469Leu)
NM_000069.3(CACNA1S):c.1413G>C (p.Leu471=)
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.1453G>A (p.Gly485Arg)
NM_000069.3(CACNA1S):c.1459G>A (p.Gly487Ser)
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) rs1411108885
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) 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.1508T>C (p.Val503Ala) rs763510310
NM_000069.3(CACNA1S):c.150G>C (p.Trp50Cys)
NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly)
NM_000069.3(CACNA1S):c.153-8G>A rs1663050022
NM_000069.3(CACNA1S):c.153G>A (p.Lys51=)
NM_000069.3(CACNA1S):c.1547C>G (p.Ser516Trp) 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.1564C>G (p.Leu522Val) rs4915476
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.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.1624T>A (p.Trp542Arg) rs2102142703
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.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.169A>G (p.Ile57Val) rs1663048287
NM_000069.3(CACNA1S):c.1721C>T (p.Ala574Val) rs1004513123
NM_000069.3(CACNA1S):c.1724T>C (p.Leu575Pro)
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.1768A>G (p.Thr590Ala) rs1661646302
NM_000069.3(CACNA1S):c.1781G>A (p.Arg594His) 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.1813A>T (p.Ile605Phe) rs550246898
NM_000069.3(CACNA1S):c.1828-16_1828-4del rs1661585121
NM_000069.3(CACNA1S):c.1828-3C>A
NM_000069.3(CACNA1S):c.1829T>C (p.Val610Ala)
NM_000069.3(CACNA1S):c.1842A>C (p.Glu614Asp)
NM_000069.3(CACNA1S):c.1846T>C (p.Trp616Arg)
NM_000069.3(CACNA1S):c.1898C>G (p.Pro633Arg)
NM_000069.3(CACNA1S):c.1905G>A (p.Met635Ile) rs754126882
NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met) rs1294275087
NM_000069.3(CACNA1S):c.1936G>T (p.Val646Phe)
NM_000069.3(CACNA1S):c.1939T>C (p.Cys647Arg) rs1160159381
NM_000069.3(CACNA1S):c.197T>C (p.Val66Ala) rs1663046954
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.1984G>A (p.Asp662Asn)
NM_000069.3(CACNA1S):c.1989C>A (p.Asn663Lys)
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.2047C>A (p.Arg683Ser) rs35708442
NM_000069.3(CACNA1S):c.2057T>C (p.Met686Thr) rs1661536110
NM_000069.3(CACNA1S):c.2063+4A>C
NM_000069.3(CACNA1S):c.2063+4A>T
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.206C>A (p.Ala69Asp) rs12406479
NM_000069.3(CACNA1S):c.206C>T (p.Ala69Val) rs12406479
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.2103G>A (p.Met701Ile) rs1553251197
NM_000069.3(CACNA1S):c.2105C>T (p.Ala702Val) rs1661497048
NM_000069.3(CACNA1S):c.2157+3G>A rs2102136981
NM_000069.3(CACNA1S):c.2161A>C (p.Lys721Gln)
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
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.2222T>C (p.Phe741Ser)
NM_000069.3(CACNA1S):c.2227+3G>A
NM_000069.3(CACNA1S):c.2264G>T (p.Ser755Ile)
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.2321C>T (p.Pro774Leu)
NM_000069.3(CACNA1S):c.2342T>G (p.Ile781Ser) rs780079690
NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met)
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.2447T>C (p.Leu816Pro)
NM_000069.3(CACNA1S):c.2464A>T (p.Ile822Phe)
NM_000069.3(CACNA1S):c.2473G>A (p.Asp825Asn)
NM_000069.3(CACNA1S):c.2476T>A (p.Ser826Thr) rs1558067487
NM_000069.3(CACNA1S):c.2503T>G (p.Phe835Val)
NM_000069.3(CACNA1S):c.2507A>G (p.Asp836Gly) rs1558067263
NM_000069.3(CACNA1S):c.2519C>T (p.Thr840Ile) rs2102130615
NM_000069.3(CACNA1S):c.251T>A (p.Leu84His)
NM_000069.3(CACNA1S):c.2542G>A (p.Val848Ile) rs1661358358
NM_000069.3(CACNA1S):c.258+4A>G rs2102190508
NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser)
NM_000069.3(CACNA1S):c.2582G>A (p.Gly861Asp)
NM_000069.3(CACNA1S):c.2612T>C (p.Leu871Pro) rs2102126857
NM_000069.3(CACNA1S):c.2629G>A (p.Ala877Thr)
NM_000069.3(CACNA1S):c.2658-7C>A rs1164819470
NM_000069.3(CACNA1S):c.2668A>G (p.Ile890Val)
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.2698A>G (p.Arg900Gly) rs1661234855
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+5G>A
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.2821A>C (p.Met941Leu)
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.2864T>C (p.Phe955Ser) rs1661089298
NM_000069.3(CACNA1S):c.2888T>C (p.Met963Thr) rs895181258
NM_000069.3(CACNA1S):c.2906+5A>G
NM_000069.3(CACNA1S):c.2907-3C>T
NM_000069.3(CACNA1S):c.2907-7G>C
NM_000069.3(CACNA1S):c.2915A>G (p.Tyr972Cys)
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.2968T>G (p.Trp990Gly) rs1661068374
NM_000069.3(CACNA1S):c.296T>A (p.Ile99Asn) rs374127575
NM_000069.3(CACNA1S):c.2977A>G (p.Ser993Gly) rs2102575798
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.3040G>C (p.Glu1014Gln) rs776712220
NM_000069.3(CACNA1S):c.304G>T (p.Ala102Ser)
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.3107A>G (p.Asn1036Ser)
NM_000069.3(CACNA1S):c.3113G>T (p.Arg1038Leu) rs774884290
NM_000069.3(CACNA1S):c.3123G>A (p.Met1041Ile)
NM_000069.3(CACNA1S):c.3140T>A (p.Ile1047Asn)
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.3167T>C (p.Met1056Thr)
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.3220A>G (p.Thr1074Ala)
NM_000069.3(CACNA1S):c.3221C>T (p.Thr1074Ile)
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+20G>A
NM_000069.3(CACNA1S):c.3255G>T (p.Gln1085His)
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3262T>C (p.Cys1088Arg) rs1661020544
NM_000069.3(CACNA1S):c.3272A>G (p.Tyr1091Cys) rs1661020089
NM_000069.3(CACNA1S):c.327CTT[1] (p.Phe110del) rs2102167501
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
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.3386T>C (p.Met1129Thr)
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+2dup rs1661012107
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.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.3(CACNA1S):c.3462T>A (p.Asn1154Lys)
NM_000069.3(CACNA1S):c.3467C>A (p.Ala1156Asp)
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.3520G>A (p.Ala1174Thr)
NM_000069.3(CACNA1S):c.3533T>A (p.Phe1178Tyr)
NM_000069.3(CACNA1S):c.355C>T (p.Arg119Cys)
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.3607G>A (p.Asp1203Asn)
NM_000069.3(CACNA1S):c.3623C>T (p.Ser1208Phe)
NM_000069.3(CACNA1S):c.3631G>A (p.Gly1211Arg)
NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu)
NM_000069.3(CACNA1S):c.3667-4G>T rs762497596
NM_000069.3(CACNA1S):c.3669C>G (p.Asp1223Glu) rs2102562430
NM_000069.3(CACNA1S):c.3674A>G (p.Asp1225Gly) rs1660734688
NM_000069.3(CACNA1S):c.3676G>A (p.Glu1226Lys)
NM_000069.3(CACNA1S):c.3700T>A (p.Phe1234Ile) rs1660733125
NM_000069.3(CACNA1S):c.3707G>A (p.Arg1236His)
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.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3763A>G (p.Thr1255Ala) rs1660729628
NM_000069.3(CACNA1S):c.3766C>T (p.Leu1256Phe)
NM_000069.3(CACNA1S):c.3772T>C (p.Trp1258Arg) rs1660729396
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+4C>T
NM_000069.3(CACNA1S):c.3796-3del
NM_000069.3(CACNA1S):c.3796G>A (p.Ala1266Thr) rs2102561728
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.3832T>G (p.Phe1278Val)
NM_000069.3(CACNA1S):c.3854G>A (p.Gly1285Asp)
NM_000069.3(CACNA1S):c.3857T>C (p.Met1286Thr)
NM_000069.3(CACNA1S):c.3861+5G>A
NM_000069.3(CACNA1S):c.3864G>A (p.Met1288Ile)
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser)
NM_000069.3(CACNA1S):c.3934G>A (p.Ala1312Thr) rs2102560671
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3953+5G>T
NM_000069.3(CACNA1S):c.3954G>A (p.Arg1318=)
NM_000069.3(CACNA1S):c.3962C>A (p.Thr1321Lys)
NM_000069.3(CACNA1S):c.398+6A>G rs1187491805
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4039G>C (p.Gly1347Arg) rs2102558476
NM_000069.3(CACNA1S):c.4043A>T (p.Glu1348Val)
NM_000069.3(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.3(CACNA1S):c.4052C>T (p.Thr1351Ile)
NM_000069.3(CACNA1S):c.4060A>C (p.Thr1354Pro)
NM_000069.3(CACNA1S):c.4079A>G (p.Tyr1360Cys)
NM_000069.3(CACNA1S):c.4094A>G (p.Tyr1365Cys)
NM_000069.3(CACNA1S):c.4109T>A (p.Phe1370Tyr)
NM_000069.3(CACNA1S):c.4113+5G>C
NM_000069.3(CACNA1S):c.4114G>T (p.Val1372Phe) rs1660614160
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.4171T>A (p.Trp1391Arg) rs200062688
NM_000069.3(CACNA1S):c.4177A>G (p.Ile1393Val) rs2102557535
NM_000069.3(CACNA1S):c.4219G>T (p.Ala1407Ser)
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4250T>C (p.Ile1417Thr) rs372383822
NM_000069.3(CACNA1S):c.4263C>A (p.Asp1421Glu)
NM_000069.3(CACNA1S):c.4280G>A (p.Arg1427Lys)
NM_000069.3(CACNA1S):c.4295C>T (p.Pro1432Leu) rs1660566248
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.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.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.4353G>A (p.Met1451Ile) rs773780364
NM_000069.3(CACNA1S):c.437A>G (p.Gln146Arg)
NM_000069.3(CACNA1S):c.4405G>T (p.Ala1469Ser)
NM_000069.3(CACNA1S):c.4415G>T (p.Arg1472Leu)
NM_000069.3(CACNA1S):c.4418C>T (p.Thr1473Met)
NM_000069.3(CACNA1S):c.4420G>A (p.Ala1474Thr)
NM_000069.3(CACNA1S):c.4442G>A (p.Gly1481Asp)
NM_000069.3(CACNA1S):c.4456G>A (p.Ala1486Thr)
NM_000069.3(CACNA1S):c.4460A>G (p.Asn1487Ser)
NM_000069.3(CACNA1S):c.4461C>A (p.Asn1487Lys) rs149668892
NM_000069.3(CACNA1S):c.4472G>A (p.Arg1491Lys) rs2102553652
NM_000069.3(CACNA1S):c.4517T>G (p.Leu1506Trp)
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.4618C>G (p.Gln1540Glu) rs1351956022
NM_000069.3(CACNA1S):c.461G>A (p.Ser154Asn) rs1662254411
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.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.466G>A (p.Gly156Arg)
NM_000069.3(CACNA1S):c.4672G>A (p.Gly1558Arg)
NM_000069.3(CACNA1S):c.470C>G (p.Ala157Gly) rs1662254049
NM_000069.3(CACNA1S):c.4714C>T (p.Arg1572Cys)
NM_000069.3(CACNA1S):c.4731C>A (p.Asp1577Glu) rs202120583
NM_000069.3(CACNA1S):c.4775C>G (p.Ala1592Gly)
NM_000069.3(CACNA1S):c.4778T>C (p.Met1593Thr) rs781500916
NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met) rs144059385
NM_000069.3(CACNA1S):c.4832_4849dup (p.Asn1616_Ser1617insPheLeuGluArgThrAsn)
NM_000069.3(CACNA1S):c.4835T>C (p.Leu1612Pro)
NM_000069.3(CACNA1S):c.4847A>G (p.Asn1616Ser)
NM_000069.3(CACNA1S):c.4885C>G (p.Gln1629Glu)
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.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.494G>A (p.Arg165Lys) rs2102164633
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)
NM_000069.3(CACNA1S):c.4957A>G (p.Thr1653Ala) rs1660353768
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.497C>T (p.Ala166Val)
NM_000069.3(CACNA1S):c.5020_5034dup (p.Ser1678_His1679insAsnHisSerAsnSer)
NM_000069.3(CACNA1S):c.5045C>T (p.Ser1682Phe)
NM_000069.3(CACNA1S):c.5049-6T>A
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
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.5125A>G (p.Arg1709Gly) rs1660201407
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.517C>T (p.Leu173Phe)
NM_000069.3(CACNA1S):c.5209_5226+3dup rs1660129870
NM_000069.3(CACNA1S):c.5215G>T (p.Ala1739Ser)
NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu)
NM_000069.3(CACNA1S):c.5222G>T (p.Cys1741Phe)
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.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.5290GAG[1] (p.Glu1765del)
NM_000069.3(CACNA1S):c.5293_5294delinsAG (p.Glu1765Arg)
NM_000069.3(CACNA1S):c.5300C>G (p.Pro1767Arg)
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.5335T>G (p.Cys1779Gly) rs370520150
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.535G>T (p.Val179Leu)
NM_000069.3(CACNA1S):c.5370+5G>A rs762200667
NM_000069.3(CACNA1S):c.5371-3C>T
NM_000069.3(CACNA1S):c.5380C>T (p.Arg1794Ter)
NM_000069.3(CACNA1S):c.541+3G>A rs1662249692
NM_000069.3(CACNA1S):c.5448T>A (p.Asp1816Glu)
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5473G>A (p.Val1825Met)
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) rs373693197
NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)
NM_000069.3(CACNA1S):c.5531G>A (p.Ser1844Asn) rs145195149
NM_000069.3(CACNA1S):c.5534C>T (p.Ser1845Phe) rs2102535354
NM_000069.3(CACNA1S):c.5543G>A (p.Cys1848Tyr)
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.579G>T (p.Met193Ile)
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.610C>G (p.Leu204Val) rs753823016
NM_000069.3(CACNA1S):c.618G>A (p.Met206Ile)
NM_000069.3(CACNA1S):c.632C>T (p.Ala211Val) rs763260505
NM_000069.3(CACNA1S):c.663G>C (p.Lys221Asn) rs1662237951
NM_000069.3(CACNA1S):c.671A>G (p.Lys224Arg)
NM_000069.3(CACNA1S):c.685A>G (p.Ile229Val) rs1662236680
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.756_758dup (p.Arg253_Cys254insArg)
NM_000069.3(CACNA1S):c.770A>G (p.Asn257Ser)
NM_000069.3(CACNA1S):c.774C>T (p.Gly258=) rs2102160480
NM_000069.3(CACNA1S):c.787G>A (p.Gly263Ser)
NM_000069.3(CACNA1S):c.818C>T (p.Thr273Ile) rs2102160364
NM_000069.3(CACNA1S):c.82C>A (p.Pro28Thr) rs1297380219
NM_000069.3(CACNA1S):c.836G>A (p.Gly279Asp) rs868243518
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.871A>G (p.Met291Val)
NM_000069.3(CACNA1S):c.877G>A (p.Gly293Arg)
NM_000069.3(CACNA1S):c.884C>A (p.Thr295Asn) rs2102160120
NM_000069.3(CACNA1S):c.911C>G (p.Ala304Gly)
NM_000069.3(CACNA1S):c.916G>A (p.Gly306Arg)
NM_000069.3(CACNA1S):c.916G>T (p.Gly306Trp) rs1484525295
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309
NM_000069.3(CACNA1S):c.983T>C (p.Leu328Pro)

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