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: 586
Download table as spreadsheet
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.(?_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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.