ClinVar Miner

List of variants in gene CACNA1C reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 728
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838 0.04572
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 0.00096
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=) rs376124689 0.00058
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) rs369673473 0.00048
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354 0.00029
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761 0.00026
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) rs200602896 0.00025
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830 0.00020
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=) rs368817423 0.00019
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=) rs144992959 0.00017
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=) rs146868811 0.00017
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=) rs200330326 0.00016
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322 0.00016
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=) rs373996684 0.00016
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.35A>T (p.Glu12Val) rs751212715 0.00014
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000719.7(CACNA1C):c.6006C>T (p.Gly2002=) rs373253192 0.00014
NM_000719.7(CACNA1C):c.3510G>A (p.Gln1170=) rs372745326 0.00012
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_000719.7(CACNA1C):c.212C>T (p.Ala71Val) rs755579963 0.00011
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00010
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=) rs202227691 0.00010
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=) rs762656408 0.00010
NM_000719.7(CACNA1C):c.4233-4C>T rs769538757 0.00010
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) rs372300407 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) rs770311259 0.00010
NM_000719.7(CACNA1C):c.1332C>T (p.Ala444=) rs202027411 0.00009
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814 0.00009
NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=) rs150692845 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.3988C>T (p.Leu1330=) rs1455874684 0.00009
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) rs367638447 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=) rs367783859 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.798C>T (p.Val266=) rs758394964 0.00009
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=) rs367860917 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=) rs370145265 0.00007
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773 0.00007
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195 0.00007
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=) rs199569953 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.5091+3G>A rs372915169 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000719.7(CACNA1C):c.570C>T (p.Tyr190=) rs372770722 0.00007
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln) rs190288386 0.00007
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642 0.00007
NM_000719.7(CACNA1C):c.6213A>T (p.Ile2071=) rs778147251 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=) rs377431864 0.00006
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=) rs748256548 0.00006
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=) rs752697651 0.00006
NM_000719.7(CACNA1C):c.4581A>G (p.Pro1527=) rs367773879 0.00006
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) rs113157354 0.00006
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala) rs756492434 0.00006
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val) rs745997744 0.00006
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys) rs952990263 0.00006
NM_000719.7(CACNA1C):c.5785-5C>T rs750451768 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321 0.00006
NM_000719.7(CACNA1C):c.859T>C (p.Leu287=) rs570043167 0.00006
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) rs200289321 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_000719.7(CACNA1C):c.2022A>G (p.Gly674=) rs765301620 0.00005
NM_000719.7(CACNA1C):c.3492C>T (p.Phe1164=) rs757106180 0.00005
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172 0.00005
NM_000719.7(CACNA1C):c.4920G>A (p.Val1640=) rs773063881 0.00005
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496 0.00005
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) rs369483452 0.00005
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699 0.00005
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=) rs376345869 0.00004
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=) rs377274770 0.00004
NM_000719.7(CACNA1C):c.1434C>T (p.Asn478=) rs765805414 0.00004
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=) rs893883530 0.00004
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) rs781180544 0.00004
NM_000719.7(CACNA1C):c.201C>T (p.Ser67=) rs766851793 0.00004
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) rs786205751 0.00004
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met) rs772235214 0.00004
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) rs199629800 0.00004
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala) rs754495060 0.00004
NM_000719.7(CACNA1C):c.3081G>A (p.Arg1027=) rs746010296 0.00004
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435 0.00004
NM_000719.7(CACNA1C):c.3330C>T (p.Thr1110=) rs375202118 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) rs587780882 0.00004
NM_000719.7(CACNA1C):c.4044G>A (p.Thr1348=) rs911952595 0.00004
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=) rs377173101 0.00004
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) rs587780878 0.00004
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=) rs546786746 0.00004
NM_000719.7(CACNA1C):c.4863G>A (p.Thr1621=) rs780301618 0.00004
NM_000719.7(CACNA1C):c.4899G>A (p.Lys1633=) rs368667721 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) rs780871697 0.00004
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=) rs370149297 0.00004
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=) rs368281620 0.00004
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr) rs767425352 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp) rs369421219 0.00004
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604 0.00004
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) rs552478740 0.00004
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) rs765885227 0.00004
NM_000719.7(CACNA1C):c.6324C>T (p.Ala2108=) rs757538773 0.00004
NM_000719.7(CACNA1C):c.687C>T (p.Ala229=) rs201664704 0.00004
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=) rs540934161 0.00004
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=) rs752809686 0.00004
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=) rs781074075 0.00003
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser) rs781306162 0.00003
NM_000719.7(CACNA1C):c.1782C>T (p.Phe594=) rs374976163 0.00003
NM_000719.7(CACNA1C):c.1797C>T (p.Gly599=) rs367614356 0.00003
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674 0.00003
NM_000719.7(CACNA1C):c.1863C>T (p.Cys621=) rs747010529 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.241C>A (p.Arg81=) rs745759667 0.00003
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) rs773015884 0.00003
NM_000719.7(CACNA1C):c.258T>C (p.Tyr86=) rs776280284 0.00003
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=) rs768096981 0.00003
NM_000719.7(CACNA1C):c.2961-5C>T rs781703710 0.00003
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676 0.00003
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met) rs374549078 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279 0.00003
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451 0.00003
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=) rs371640459 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5118C>T (p.His1706=) rs372547992 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5343C>T (p.Pro1781=) rs374858814 0.00003
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=) rs377680168 0.00003
NM_000719.7(CACNA1C):c.5387C>T (p.Pro1796Leu) rs199999203 0.00003
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769 0.00003
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln) rs201918158 0.00003
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395 0.00003
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) rs368046891 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.6030A>G (p.Arg2010=) rs372555640 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) rs758974396 0.00003
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val) rs745731628 0.00003
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg) rs970305864 0.00003
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) rs769703001 0.00003
NM_000719.7(CACNA1C):c.1053C>T (p.Phe351=) rs182805644 0.00002
NM_000719.7(CACNA1C):c.1125C>T (p.Ala375=) rs1131652 0.00002
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) rs1131653 0.00002
NM_000719.7(CACNA1C):c.123G>A (p.Glu41=) rs981806518 0.00002
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746 0.00002
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu) rs1157777158 0.00002
NM_000719.7(CACNA1C):c.1785C>T (p.Val595=) rs755436625 0.00002
NM_000719.7(CACNA1C):c.2382G>A (p.Pro794=) rs371978680 0.00002
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756 0.00002
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala) rs369884505 0.00002
NM_000719.7(CACNA1C):c.3072C>T (p.Val1024=) rs566310000 0.00002
NM_000719.7(CACNA1C):c.3237G>A (p.Gly1079=) rs534453109 0.00002
NM_000719.7(CACNA1C):c.3285G>A (p.Lys1095=) rs900491834 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000719.7(CACNA1C):c.3483C>T (p.Phe1161=) rs367790910 0.00002
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) rs776884902 0.00002
NM_000719.7(CACNA1C):c.3912C>T (p.Asn1304=) rs1221384071 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.4242C>T (p.Thr1414=) rs773062528 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583 0.00002
NM_000719.7(CACNA1C):c.4726+3A>G rs982682310 0.00002
NM_000719.7(CACNA1C):c.4956+5G>C rs758948589 0.00002
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) rs199586997 0.00002
NM_000719.7(CACNA1C):c.513G>A (p.Thr171=) rs769915094 0.00002
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=) rs371262001 0.00002
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603 0.00002
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=) rs864622139 0.00002
NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys) rs759468937 0.00002
NM_000719.7(CACNA1C):c.5283C>T (p.Thr1761=) rs747358417 0.00002
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser) rs921032597 0.00002
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214 0.00002
NM_000719.7(CACNA1C):c.54C>T (p.Ser18=) rs2083379050 0.00002
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro) rs566778414 0.00002
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) rs753954220 0.00002
NM_000719.7(CACNA1C):c.5688G>A (p.Arg1896=) rs757426840 0.00002
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala) rs1298514198 0.00002
NM_000719.7(CACNA1C):c.594A>G (p.Leu198=) rs778711543 0.00002
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057 0.00002
NM_000719.7(CACNA1C):c.6111G>A (p.Val2037=) rs758922114 0.00002
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=) rs774966357 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000719.7(CACNA1C):c.705G>A (p.Ala235=) rs775314673 0.00002
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) rs773211348 0.00002
NM_000719.7(CACNA1C):c.810C>T (p.His270=) rs780247399 0.00002
NM_000719.7(CACNA1C):c.813C>T (p.Ile271=) rs747169285 0.00002
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) rs377345545 0.00002
NM_000719.7(CACNA1C):c.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.1023C>T (p.His341=) rs375785714 0.00001
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170 0.00001
NM_000719.7(CACNA1C):c.1101C>T (p.Asp367=) rs746525111 0.00001
NM_000719.7(CACNA1C):c.1107G>A (p.Leu369=) rs1021674676 0.00001
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763 0.00001
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=) rs780409021 0.00001
NM_000719.7(CACNA1C):c.1227C>T (p.Ser409=) rs753412341 0.00001
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) rs751902029 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) rs1238581042 0.00001
NM_000719.7(CACNA1C):c.138G>A (p.Pro46=) rs774165120 0.00001
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys) rs770480382 0.00001
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) rs765581751 0.00001
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=) rs750843602 0.00001
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met) rs752677964 0.00001
NM_000719.7(CACNA1C):c.1452C>T (p.Ile484=) rs1432858631 0.00001
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970 0.00001
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys) rs370634418 0.00001
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) rs975289385 0.00001
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp) rs776805699 0.00001
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=) rs563315606 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000719.7(CACNA1C):c.1599G>A (p.Leu533=) rs376618291 0.00001
NM_000719.7(CACNA1C):c.1614G>A (p.Thr538=) rs747593586 0.00001
NM_000719.7(CACNA1C):c.162G>A (p.Ala54=) rs760297846 0.00001
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=) rs763760402 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.1704G>A (p.Thr568=) rs770625734 0.00001
NM_000719.7(CACNA1C):c.1716C>T (p.Leu572=) rs745728974 0.00001
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) rs776145143 0.00001
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) rs768034509 0.00001
NM_000719.7(CACNA1C):c.1806G>A (p.Glu602=) rs775181288 0.00001
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021 0.00001
NM_000719.7(CACNA1C):c.1893G>A (p.Thr631=) rs1252210096 0.00001
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr) rs1429541061 0.00001
NM_000719.7(CACNA1C):c.225A>C (p.Thr75=) rs756361032 0.00001
NM_000719.7(CACNA1C):c.2368T>C (p.Leu790=) rs1184185290 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu) rs771393283 0.00001
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr) rs749753740 0.00001
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln) rs779009338 0.00001
NM_000719.7(CACNA1C):c.2403G>A (p.Glu801=) rs1393294693 0.00001
NM_000719.7(CACNA1C):c.2427C>T (p.Ile809=) rs886038904 0.00001
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=) rs1257316721 0.00001
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214 0.00001
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser) rs1042919299 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_000719.7(CACNA1C):c.2547G>A (p.Glu849=) rs759093479 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.2619C>T (p.Pro873=) rs374481837 0.00001
NM_000719.7(CACNA1C):c.2700G>A (p.Thr900=) rs200717140 0.00001
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=) rs1156871556 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3060G>A (p.Gln1020=) rs115017320 0.00001
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=) rs375813950 0.00001
NM_000719.7(CACNA1C):c.3096C>T (p.Ile1032=) rs917266570 0.00001
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) rs1305965146 0.00001
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) rs786205779 0.00001
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) rs781440831 0.00001
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=) rs370662635 0.00001
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350 0.00001
NM_000719.7(CACNA1C):c.3303T>C (p.Val1101=) rs760313875 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.3363G>A (p.Leu1121=) rs778991232 0.00001
NM_000719.7(CACNA1C):c.3372C>T (p.Ser1124=) rs757869704 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=) rs1057522786 0.00001
NM_000719.7(CACNA1C):c.3498C>T (p.Ile1166=) rs201147949 0.00001
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu) rs890686445 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.3576C>T (p.Tyr1192=) rs376481211 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.3663C>T (p.Phe1221=) rs369646222 0.00001
NM_000719.7(CACNA1C):c.3717+4A>G rs1184709095 0.00001
NM_000719.7(CACNA1C):c.3718-3C>T rs1267424726 0.00001
NM_000719.7(CACNA1C):c.3723C>T (p.Tyr1241=) rs377686760 0.00001
NM_000719.7(CACNA1C):c.3762C>T (p.Leu1254=) rs781762504 0.00001
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met) rs760543068 0.00001
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_000719.7(CACNA1C):c.3978C>T (p.Thr1326=) rs1022346720 0.00001
NM_000719.7(CACNA1C):c.4078C>T (p.Leu1360=) rs752125137 0.00001
NM_000719.7(CACNA1C):c.4131C>T (p.Ile1377=) rs770774627 0.00001
NM_000719.7(CACNA1C):c.4141-4C>T rs745757052 0.00001
NM_000719.7(CACNA1C):c.4152A>G (p.Lys1384=) rs775331521 0.00001
NM_000719.7(CACNA1C):c.4215C>T (p.Ala1405=) rs768068080 0.00001
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=) rs756717724 0.00001
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) rs753892795 0.00001
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=) rs747654175 0.00001
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val) rs200206894 0.00001
NM_000719.7(CACNA1C):c.4440C>T (p.Asp1480=) rs1355078427 0.00001
NM_000719.7(CACNA1C):c.4704G>A (p.Thr1568=) rs377050884 0.00001
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=) rs1336965329 0.00001
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr) rs1356292633 0.00001
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) rs777210376 0.00001
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968 0.00001
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) rs1243482248 0.00001
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=) rs758486779 0.00001
NM_000719.7(CACNA1C):c.4890G>A (p.Lys1630=) rs781335488 0.00001
NM_000719.7(CACNA1C):c.4971A>G (p.Thr1657=) rs755018705 0.00001
NM_000719.7(CACNA1C):c.4983C>T (p.Ile1661=) rs756309007 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000719.7(CACNA1C):c.5109C>T (p.Phe1703=) rs767569416 0.00001
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273 0.00001
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val) rs751493277 0.00001
NM_000719.7(CACNA1C):c.5220T>G (p.Thr1740=) rs1319539049 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_000719.7(CACNA1C):c.5250C>T (p.Asp1750=) rs1231791018 0.00001
NM_000719.7(CACNA1C):c.5265G>A (p.Pro1755=) rs763694744 0.00001
NM_000719.7(CACNA1C):c.5319C>T (p.Thr1773=) rs897857982 0.00001
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) rs189719120 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His) rs756829999 0.00001
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) rs780210232 0.00001
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly) rs1350126839 0.00001
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=) rs113417515 0.00001
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) rs535350857 0.00001
NM_000719.7(CACNA1C):c.5610G>A (p.Thr1870=) rs754665233 0.00001
NM_000719.7(CACNA1C):c.5658T>C (p.Gly1886=) rs769766334 0.00001
NM_000719.7(CACNA1C):c.5733G>A (p.Gly1911=) rs769215743 0.00001
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg) rs748679771 0.00001
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) rs200666365 0.00001
NM_000719.7(CACNA1C):c.5841A>G (p.Ser1947=) rs1056550014 0.00001
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=) rs1291974001 0.00001
NM_000719.7(CACNA1C):c.5904C>T (p.Pro1968=) rs779915019 0.00001
NM_000719.7(CACNA1C):c.5905G>A (p.Val1969Ile) rs748408098 0.00001
NM_000719.7(CACNA1C):c.5922T>C (p.Leu1974=) rs775794989 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys) rs765320988 0.00001
NM_000719.7(CACNA1C):c.5976C>T (p.Cys1992=) rs369690952 0.00001
NM_000719.7(CACNA1C):c.5997C>G (p.Thr1999=) rs1291561787 0.00001
NM_000719.7(CACNA1C):c.6000C>T (p.Pro2000=) rs772160508 0.00001
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) rs886038918 0.00001
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=) rs762515457 0.00001
NM_000719.7(CACNA1C):c.6026G>A (p.Arg2009Gln) rs535291848 0.00001
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) rs780157730 0.00001
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) rs786205742 0.00001
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala) rs773185026 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) rs1464980383 0.00001
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759 0.00001
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn) rs957119379 0.00001
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) rs1216146146 0.00001
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=) rs768208850 0.00001
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His) rs2097781569 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=) rs868024886 0.00001
NM_000719.7(CACNA1C):c.714C>G (p.Ala238=) rs561293967 0.00001
NM_000719.7(CACNA1C):c.720C>T (p.Arg240=) rs527755968 0.00001
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=) rs773869181 0.00001
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136 0.00001
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) rs373687005 0.00001
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu) rs538921079 0.00001
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro) rs745856938 0.00001
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=) rs553958501 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_000719.7(CACNA1C):c.999G>A (p.Lys333=) rs770382212 0.00001
NM_000719.7(CACNA1C):c.-2C>T
NM_000719.7(CACNA1C):c.1044C>T (p.Asn348=) rs764411892
NM_000719.7(CACNA1C):c.1050C>T (p.Ala350=)
NM_000719.7(CACNA1C):c.108G>T (p.Ala36=)
NM_000719.7(CACNA1C):c.1113+3A>G
NM_000719.7(CACNA1C):c.1113+4C>G
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys)
NM_000719.7(CACNA1C):c.1233G>A (p.Glu411=)
NM_000719.7(CACNA1C):c.1236G>A (p.Arg412=)
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp)
NM_000719.7(CACNA1C):c.1275G>A (p.Arg425=) rs887707998
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu)
NM_000719.7(CACNA1C):c.1290A>G (p.Leu430=) rs886038927
NM_000719.7(CACNA1C):c.1296G>A (p.Glu432=)
NM_000719.7(CACNA1C):c.1350G>A (p.Glu450=)
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del)
NM_000719.7(CACNA1C):c.1374G>A (p.Glu458=)
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) rs794727961
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn)
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.1479G>A (p.Leu493=) rs1555775201
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg)
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.7(CACNA1C):c.150G>A (p.Leu50=) rs1383351740
NM_000719.7(CACNA1C):c.153G>T (p.Ser51=) rs563315606
NM_000719.7(CACNA1C):c.1540A>C (p.Arg514=)
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1560A>G (p.Ala520=)
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.1614G>T (p.Thr538=)
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala)
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val) rs775019372
NM_000719.7(CACNA1C):c.1635C>T (p.His545=) rs1171966123
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val)
NM_000719.7(CACNA1C):c.1740G>T (p.Leu580=)
NM_000719.7(CACNA1C):c.1746C>T (p.Ala582=)
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met)
NM_000719.7(CACNA1C):c.1824C>A (p.Thr608=) rs762503774
NM_000719.7(CACNA1C):c.1845C>T (p.Gly615=)
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met) rs775536781
NM_000719.7(CACNA1C):c.1890C>T (p.Ile630=)
NM_000719.7(CACNA1C):c.1895+3A>T
NM_000719.7(CACNA1C):c.190C>T (p.Leu64=)
NM_000719.7(CACNA1C):c.1929C>A (p.Ser643=)
NM_000719.7(CACNA1C):c.1962G>A (p.Leu654=)
NM_000719.7(CACNA1C):c.1965C>T (p.Leu655=) rs775843731
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val) rs1555825533
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg)
NM_000719.7(CACNA1C):c.204T>G (p.Ala68=)
NM_000719.7(CACNA1C):c.2175A>G (p.Pro725=)
NM_000719.7(CACNA1C):c.2225-5_2225-2del
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu)
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp)
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) rs786205770
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2339+5C>A rs554086967
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly)
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn)
NM_000719.7(CACNA1C):c.234C>T (p.Ser78=) rs1060504924
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=) rs374468402
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu)
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=) rs1440491763
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr)
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.2412T>A (p.Ile804=) rs1568589524
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser) rs1380611135
NM_000719.7(CACNA1C):c.2451C>G (p.Pro817=)
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala) rs1453935757
NM_000719.7(CACNA1C):c.2461-4C>G
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr)
NM_000719.7(CACNA1C):c.2481G>A (p.Gln827=) rs2153232494
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser)
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) rs1295351612
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala)
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala)
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser) rs754046062
NM_000719.7(CACNA1C):c.2721C>T (p.Leu907=)
NM_000719.7(CACNA1C):c.2794-5T>C rs1568666242
NM_000719.7(CACNA1C):c.2805T>C (p.Tyr935=)
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys) rs762624889
NM_000719.7(CACNA1C):c.2958C>T (p.Ile986=) rs886049203
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro)
NM_000719.7(CACNA1C):c.2970A>G (p.Ala990=)
NM_000719.7(CACNA1C):c.2979C>T (p.Val993=) rs1025481136
NM_000719.7(CACNA1C):c.2988C>T (p.Ile996=) rs886039065
NM_000719.7(CACNA1C):c.3105C>T (p.Val1035=)
NM_000719.7(CACNA1C):c.3165G>T (p.Leu1055=)
NM_000719.7(CACNA1C):c.3174T>C (p.Cys1058=)
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly)
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs) rs1555881808
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr)
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu) rs111606207
NM_000719.7(CACNA1C):c.324C>T (p.Thr108=)
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs)
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val)
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) rs745853358
NM_000719.7(CACNA1C):c.336C>T (p.Pro112=)
NM_000719.7(CACNA1C):c.340C>A (p.Arg114=) rs758229132
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) rs370798052
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) rs1601930985
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
NM_000719.7(CACNA1C):c.3489C>T (p.Gly1163=) rs1057522786
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.3522G>A (p.Glu1174=) rs779571274
NM_000719.7(CACNA1C):c.3524_3527del (p.Gln1175fs)
NM_000719.7(CACNA1C):c.3540T>C (p.Cys1180=)
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val)
NM_000719.7(CACNA1C):c.3589C>A (p.Arg1197=)
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met) rs747533547
NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=) rs1057521327
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys)
NM_000719.7(CACNA1C):c.3678C>T (p.Phe1226=) rs775309900
NM_000719.7(CACNA1C):c.3687C>T (p.Ile1229=)
NM_000719.7(CACNA1C):c.3705C>T (p.Cys1235=)
NM_000719.7(CACNA1C):c.3718-5T>C
NM_000719.7(CACNA1C):c.3736C>T (p.Leu1246=) rs763674076
NM_000719.7(CACNA1C):c.3750C>T (p.Ala1250=)
NM_000719.7(CACNA1C):c.3771C>T (p.Leu1257=)
NM_000719.7(CACNA1C):c.3789C>T (p.Thr1263=) rs765393806
NM_000719.7(CACNA1C):c.3801C>T (p.Ile1267=)
NM_000719.7(CACNA1C):c.3852T>C (p.Asn1284=) rs1603021612
NM_000719.7(CACNA1C):c.3861C>T (p.Asp1287=)
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser)
NM_000719.7(CACNA1C):c.3888T>C (p.Val1296=)
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) rs886038890
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val)
NM_000719.7(CACNA1C):c.3951A>G (p.Ala1317=) rs1444937156
NM_000719.7(CACNA1C):c.3981C>T (p.Phe1327=)
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) rs2153655235
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met)
NM_000719.7(CACNA1C):c.4068C>A (p.Ser1356=) rs765091519
NM_000719.7(CACNA1C):c.4101C>T (p.Ile1367=)
NM_000719.7(CACNA1C):c.4104G>A (p.Val1368=)
NM_000719.7(CACNA1C):c.4125G>A (p.Ala1375=)
NM_000719.7(CACNA1C):c.4191C>T (p.Asn1397=)
NM_000719.7(CACNA1C):c.420C>A (p.Ala140=)
NM_000719.7(CACNA1C):c.4218G>T (p.Val1406=)
NM_000719.7(CACNA1C):c.4290G>A (p.Lys1430=)
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn) rs1009822245
NM_000719.7(CACNA1C):c.4389T>C (p.Cys1463=) rs1060504918
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) rs886038809
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) rs1555997051
NM_000719.7(CACNA1C):c.4448C>A (p.Thr1483Lys)
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs)
NM_000719.7(CACNA1C):c.4476C>T (p.His1492=)
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp)
NM_000719.7(CACNA1C):c.4479C>T (p.His1493=)
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=) rs1297869395
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del)
NM_000719.7(CACNA1C):c.4563C>T (p.Leu1521=) rs1569144723
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val)
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
NM_000719.7(CACNA1C):c.4629G>A (p.Leu1543=)
NM_000719.7(CACNA1C):c.4629G>T (p.Leu1543=)
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs) rs2096394881
NM_000719.7(CACNA1C):c.4686G>A (p.Leu1562=)
NM_000719.7(CACNA1C):c.4731C>T (p.Asn1577=)
NM_000719.7(CACNA1C):c.4737A>G (p.Glu1579=)
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala) rs745938574
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
NM_000719.7(CACNA1C):c.483A>G (p.Arg161=)
NM_000719.7(CACNA1C):c.4842C>T (p.Thr1614=) rs779550437
NM_000719.7(CACNA1C):c.486G>A (p.Val162=) rs1555599597
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp)
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln)
NM_000719.7(CACNA1C):c.49+3A>G
NM_000719.7(CACNA1C):c.49+5G>A
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter)
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) rs786205773
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del) rs1569209887
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu)
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) rs373996684
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile)
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu)
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) rs2153803252
NM_000719.7(CACNA1C):c.5187C>T (p.His1729=)
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser)
NM_000719.7(CACNA1C):c.5202C>G (p.Gly1734=) rs769124319
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5232C>T (p.Ser1744=)
NM_000719.7(CACNA1C):c.5256C>T (p.Thr1752=)
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr) rs912150219
NM_000719.7(CACNA1C):c.5325G>A (p.Leu1775=) rs1049183237
NM_000719.7(CACNA1C):c.5346C>G (p.Ala1782=) rs369254461
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=) rs369254461
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys) rs781633980
NM_000719.7(CACNA1C):c.5403del (p.Ile1802fs)
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu)
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys)
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe)
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5436C>T (p.Ser1812=)
NM_000719.7(CACNA1C):c.5481T>C (p.Gly1827=)
NM_000719.7(CACNA1C):c.5499G>A (p.Gln1833=) rs886039095
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys) rs1060503442
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu)
NM_000719.7(CACNA1C):c.5520G>A (p.Lys1840=)
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe)
NM_000719.7(CACNA1C):c.5592C>T (p.Asp1864=) rs748240245
NM_000719.7(CACNA1C):c.5598T>C (p.Asn1866=) rs1202853506
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr)
NM_000719.7(CACNA1C):c.5657G>A (p.Gly1886Asp)
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser)
NM_000719.7(CACNA1C):c.567C>T (p.Ala189=) rs886049202
NM_000719.7(CACNA1C):c.5691C>T (p.Ala1897=)
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs)
NM_000719.7(CACNA1C):c.5712G>A (p.Leu1904=)
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg) rs374528680
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe)
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly)
NM_000719.7(CACNA1C):c.5808C>T (p.Ser1936=)
NM_000719.7(CACNA1C):c.5813TCC[1] (p.Leu1939del) rs758451142
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=)
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His)
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro)
NM_000719.7(CACNA1C):c.5853T>A (p.Pro1951=)
NM_000719.7(CACNA1C):c.5865A>C (p.Pro1955=) rs199621004
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) rs377173230
NM_000719.7(CACNA1C):c.5880C>T (p.Gly1960=)
NM_000719.7(CACNA1C):c.5898A>C (p.Pro1966=) rs886038778
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His) rs2153865329
NM_000719.7(CACNA1C):c.5914C>T (p.Leu1972=)
NM_000719.7(CACNA1C):c.5917C>A (p.Arg1973=) rs774402582
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp) rs774402582
NM_000719.7(CACNA1C):c.5928G>C (p.Gly1976=) rs763979736
NM_000719.7(CACNA1C):c.6025C>A (p.Arg2009=)
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6041T>C (p.Val2014Ala)
NM_000719.7(CACNA1C):c.6057C>T (p.Pro2019=) rs1556311718
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) rs1569288182
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu) rs377312264
NM_000719.7(CACNA1C):c.6081G>A (p.Arg2027=)
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His) rs767141738
NM_000719.7(CACNA1C):c.6087C>T (p.Phe2029=) rs779215492
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr)
NM_000719.7(CACNA1C):c.6117+3A>G
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile)
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile)
NM_000719.7(CACNA1C):c.6234C>A (p.Ala2078=)
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg) rs1060503444
NM_000719.7(CACNA1C):c.6252G>C (p.Gly2084=)
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys)
NM_000719.7(CACNA1C):c.6275G>A (p.Gly2092Asp) rs755430543
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) rs755430543
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser)
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln)
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser)
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp) rs199694744
NM_000719.7(CACNA1C):c.6345C>T (p.Gly2115=)
NM_000719.7(CACNA1C):c.6348T>C (p.Cys2116=) rs1556335598
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His)
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr) rs1470889027
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val)
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn) rs886049210
NM_000719.7(CACNA1C):c.6387G>A (p.Gln2129=)
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly) rs766262489
NM_000719.7(CACNA1C):c.6408C>T (p.Ser2136=)
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr)
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_000719.7(CACNA1C):c.758-4G>A
NM_000719.7(CACNA1C):c.798C>A (p.Val266=)
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del)
NM_000719.7(CACNA1C):c.819G>A (p.Leu273=)
NM_000719.7(CACNA1C):c.837C>T (p.Ile279=)
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser)
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser)
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln) rs2099740070
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744

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