ClinVar Miner

List of variants in gene CACNA1H reported as uncertain significance for Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV

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Gene type:
ClinVar version:
Total variants: 897
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346 0.00030
NM_021098.3(CACNA1H):c.2605G>A (p.Val869Ile) rs531253297 0.00029
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer) rs774660673 0.00025
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_021098.3(CACNA1H):c.6049-3C>T rs143900018 0.00022
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu) rs1045818263 0.00021
NM_021098.3(CACNA1H):c.3363+6G>A rs574199321 0.00019
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381 0.00019
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332 0.00018
NM_021098.3(CACNA1H):c.4777+5C>T rs370513262 0.00017
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn) rs200709671 0.00016
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His) rs370384766 0.00016
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met) rs370975488 0.00015
NM_021098.3(CACNA1H):c.1119+6C>T rs372159580 0.00014
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met) rs747265858 0.00011
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His) rs200627008 0.00010
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln) rs949170696 0.00009
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His) rs200791167 0.00008
NM_021098.3(CACNA1H):c.5040-3C>T rs769178587 0.00008
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr) rs374265107 0.00007
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val) rs754671059 0.00006
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp) rs373867411 0.00006
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln) rs149367557 0.00006
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys) rs60760436 0.00006
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205 0.00006
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp) rs771195242 0.00006
NM_021098.3(CACNA1H):c.1067A>G (p.Asn356Ser) rs1967723771 0.00005
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611 0.00005
NM_021098.3(CACNA1H):c.2992C>A (p.Leu998Ile) rs768438272 0.00005
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu) rs765181693 0.00005
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn) rs555853603 0.00005
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile) rs759669950 0.00005
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys) rs377103385 0.00005
NM_021098.3(CACNA1H):c.6446G>A (p.Arg2149Gln) rs762634881 0.00005
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs) rs759709148 0.00004
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) rs375165169 0.00004
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val) rs777617840 0.00004
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val) rs375023370 0.00004
NM_021098.3(CACNA1H):c.3154+3G>A rs374267602 0.00004
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=) rs747200195 0.00004
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln) rs764530568 0.00004
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=) rs771972820 0.00004
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val) rs777667628 0.00004
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln) rs781126604 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) rs1458781875 0.00004
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser) rs769175169 0.00004
NM_021098.3(CACNA1H):c.4963G>A (p.Val1655Ile) rs535413428 0.00004
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser) rs946594196 0.00004
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val) rs371121613 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg) rs372601783 0.00004
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp) rs866836108 0.00004
NM_021098.3(CACNA1H):c.881G>A (p.Arg294His) rs371605781 0.00004
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr) rs747121461 0.00003
NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met) rs773952204 0.00003
NM_021098.3(CACNA1H):c.2451+4C>T rs764605459 0.00003
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser) rs547294711 0.00003
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys) rs762653776 0.00003
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) rs748252386 0.00003
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) rs536557648 0.00003
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=) rs761572907 0.00003
NM_021098.3(CACNA1H):c.2851G>A (p.Val951Met) rs372479526 0.00003
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu) rs777795718 0.00003
NM_021098.3(CACNA1H):c.4038+5C>T rs368592629 0.00003
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu) rs775971172 0.00003
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val) rs774773999 0.00003
NM_021098.3(CACNA1H):c.4151C>T (p.Ala1384Val) rs772094785 0.00003
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp) rs772769994 0.00003
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu) rs1371741882 0.00003
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln) rs560884609 0.00003
NM_021098.3(CACNA1H):c.4729C>T (p.Arg1577Trp) rs748925694 0.00003
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys) rs771932368 0.00003
NM_021098.3(CACNA1H):c.5144G>A (p.Arg1715His) rs371577290 0.00003
NM_021098.3(CACNA1H):c.5294C>T (p.Ala1765Val) rs781759793 0.00003
NM_021098.3(CACNA1H):c.6149C>A (p.Thr2050Asn) rs949519905 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr) rs1231529131 0.00003
NM_021098.3(CACNA1H):c.1120-3C>T rs559931034 0.00002
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln) rs774313309 0.00002
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met) rs119454949 0.00002
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val) rs1482408749 0.00002
NM_021098.3(CACNA1H):c.2687G>A (p.Arg896His) rs1356449722 0.00002
NM_021098.3(CACNA1H):c.271A>G (p.Ser91Gly) rs1035103368 0.00002
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val) rs1471872554 0.00002
NM_021098.3(CACNA1H):c.2845G>A (p.Asp949Asn) rs751635916 0.00002
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala) rs776860363 0.00002
NM_021098.3(CACNA1H):c.2986G>A (p.Val996Met) rs769872866 0.00002
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val) rs775456399 0.00002
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser) rs368825972 0.00002
NM_021098.3(CACNA1H):c.3982C>T (p.Leu1328Phe) rs746834232 0.00002
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val) rs371030255 0.00002
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met) rs778002223 0.00002
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln) rs541249511 0.00002
NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val) rs371096587 0.00002
NM_021098.3(CACNA1H):c.5030T>C (p.Phe1677Ser) rs759088401 0.00002
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met) rs779872782 0.00002
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His) rs3889063 0.00002
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe) rs369220355 0.00002
NM_021098.3(CACNA1H):c.5795A>C (p.Tyr1932Ser) rs917012995 0.00002
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys) rs757422637 0.00001
NM_021098.3(CACNA1H):c.1177T>C (p.Phe393Leu) rs1383967941 0.00001
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val) rs751513581 0.00001
NM_021098.3(CACNA1H):c.1245G>A (p.Leu415=) rs1399878445 0.00001
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala) rs1555498163 0.00001
NM_021098.3(CACNA1H):c.1457G>T (p.Trp486Leu) rs1967973162 0.00001
NM_021098.3(CACNA1H):c.1747G>C (p.Glu583Gln) rs777448598 0.00001
NM_021098.3(CACNA1H):c.1808G>C (p.Arg603Thr) rs61747577 0.00001
NM_021098.3(CACNA1H):c.1859G>A (p.Gly620Glu) rs1428939766 0.00001
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser) rs750987846 0.00001
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg) rs566589497 0.00001
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn) rs1596270983 0.00001
NM_021098.3(CACNA1H):c.1955A>T (p.Asn652Ile) rs1030011973 0.00001
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val) rs747987613 0.00001
NM_021098.3(CACNA1H):c.2018C>G (p.Pro673Arg) rs1466381514 0.00001
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile) rs1567519932 0.00001
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met) rs1473122688 0.00001
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) rs183042575 0.00001
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=) rs777762276 0.00001
NM_021098.3(CACNA1H):c.2405C>T (p.Ala802Val) rs781441262 0.00001
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val) rs772602372 0.00001
NM_021098.3(CACNA1H):c.2475G>A (p.Leu825=) rs572841580 0.00001
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp) rs760796226 0.00001
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala) rs1051410307 0.00001
NM_021098.3(CACNA1H):c.2501G>A (p.Ser834Asn) rs1386150404 0.00001
NM_021098.3(CACNA1H):c.2557A>G (p.Ile853Val) rs906645609 0.00001
NM_021098.3(CACNA1H):c.2603+3G>A rs773966897 0.00001
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val) rs770827490 0.00001
NM_021098.3(CACNA1H):c.2651G>A (p.Arg884His) rs763861676 0.00001
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys) rs1446439397 0.00001
NM_021098.3(CACNA1H):c.2686C>T (p.Arg896Cys) rs1047092055 0.00001
NM_021098.3(CACNA1H):c.2698G>T (p.Ala900Ser) rs1336532564 0.00001
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 0.00001
NM_021098.3(CACNA1H):c.2741A>G (p.Asn914Ser) rs769647241 0.00001
NM_021098.3(CACNA1H):c.2817C>T (p.Cys939=) rs1336280254 0.00001
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr) rs1012165881 0.00001
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met) rs1489760070 0.00001
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys) rs1266233731 0.00001
NM_021098.3(CACNA1H):c.2947G>A (p.Gly983Ser) rs1968852331 0.00001
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met) rs376957651 0.00001
NM_021098.3(CACNA1H):c.3064-19T>A rs1322960336 0.00001
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys) rs970648879 0.00001
NM_021098.3(CACNA1H):c.3117G>A (p.Glu1039=) rs1044744061 0.00001
NM_021098.3(CACNA1H):c.3154+5G>A rs764360814 0.00001
NM_021098.3(CACNA1H):c.3170C>T (p.Ser1057Phe) rs1435560643 0.00001
NM_021098.3(CACNA1H):c.3205C>T (p.Arg1069Ter) rs780350191 0.00001
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val) rs1238128692 0.00001
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr) rs373102061 0.00001
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys) rs766406727 0.00001
NM_021098.3(CACNA1H):c.3744+1G>A rs770718464 0.00001
NM_021098.3(CACNA1H):c.3885G>A (p.Met1295Ile) rs1410255453 0.00001
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe) rs1969297546 0.00001
NM_021098.3(CACNA1H):c.3962G>C (p.Gly1321Ala) rs1043239667 0.00001
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn) rs1172795132 0.00001
NM_021098.3(CACNA1H):c.3967A>G (p.Thr1323Ala) rs1373335448 0.00001
NM_021098.3(CACNA1H):c.4038+4C>T rs1207045890 0.00001
NM_021098.3(CACNA1H):c.4038+6G>A rs112068805 0.00001
NM_021098.3(CACNA1H):c.4061C>T (p.Ser1354Phe) rs754994425 0.00001
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser) rs747715176 0.00001
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys) rs772929276 0.00001
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr) rs764727820 0.00001
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg) rs867556563 0.00001
NM_021098.3(CACNA1H):c.4106G>A (p.Gly1369Glu) rs372465607 0.00001
NM_021098.3(CACNA1H):c.4154C>T (p.Ser1385Leu) rs773333921 0.00001
NM_021098.3(CACNA1H):c.4155G>A (p.Ser1385=) rs535299188 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys) rs374596109 0.00001
NM_021098.3(CACNA1H):c.4223+5G>A rs776869097 0.00001
NM_021098.3(CACNA1H):c.4288A>T (p.Ile1430Phe) rs776156272 0.00001
NM_021098.3(CACNA1H):c.4303C>T (p.Leu1435Phe) rs762016050 0.00001
NM_021098.3(CACNA1H):c.4350+3G>A rs1969415717 0.00001
NM_021098.3(CACNA1H):c.4350+6T>C rs367545564 0.00001
NM_021098.3(CACNA1H):c.4376G>T (p.Cys1459Phe) rs1403664698 0.00001
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His) rs750626623 0.00001
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu) rs536269517 0.00001
NM_021098.3(CACNA1H):c.4495G>A (p.Val1499Met) rs758872935 0.00001
NM_021098.3(CACNA1H):c.4566+4C>T rs199968897 0.00001
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile) rs745495784 0.00001
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr) rs1195869438 0.00001
NM_021098.3(CACNA1H):c.4685G>A (p.Arg1562Gln) rs538666649 0.00001
NM_021098.3(CACNA1H):c.4688A>G (p.Gln1563Arg) rs748978718 0.00001
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) rs58725680 0.00001
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln) rs1343159534 0.00001
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys) rs777159526 0.00001
NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His) rs774569737 0.00001
NM_021098.3(CACNA1H):c.4760-2A>G rs1468821137 0.00001
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr) rs776165690 0.00001
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile) rs1015123563 0.00001
NM_021098.3(CACNA1H):c.4898C>G (p.Thr1633Ser) rs1381765830 0.00001
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr) rs577258290 0.00001
NM_021098.3(CACNA1H):c.4918A>G (p.Asn1640Asp) rs1217478571 0.00001
NM_021098.3(CACNA1H):c.4927A>G (p.Lys1643Glu) rs766396848 0.00001
NM_021098.3(CACNA1H):c.4929+5G>A rs1054400971 0.00001
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) rs745902196 0.00001
NM_021098.3(CACNA1H):c.4976T>A (p.Val1659Glu) rs751816236 0.00001
NM_021098.3(CACNA1H):c.5059G>A (p.Ala1687Thr) rs374276829 0.00001
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met) rs754276994 0.00001
NM_021098.3(CACNA1H):c.5090C>T (p.Thr1697Met) rs556827361 0.00001
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys) rs545768453 0.00001
NM_021098.3(CACNA1H):c.5153G>A (p.Arg1718His) rs375691821 0.00001
NM_021098.3(CACNA1H):c.5155G>A (p.Val1719Met) rs768128693 0.00001
NM_021098.3(CACNA1H):c.5170C>T (p.Arg1724Cys) rs771688999 0.00001
NM_021098.3(CACNA1H):c.5171G>A (p.Arg1724His) rs1025818671 0.00001
NM_021098.3(CACNA1H):c.5198C>T (p.Thr1733Met) rs764098313 0.00001
NM_021098.3(CACNA1H):c.5267T>C (p.Phe1756Ser) rs767973097 0.00001
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys) rs767277197 0.00001
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=) rs776172409 0.00001
NM_021098.3(CACNA1H):c.5446-10C>G rs1184041228 0.00001
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys) rs768988866 0.00001
NM_021098.3(CACNA1H):c.547A>C (p.Met183Leu) rs763029586 0.00001
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg) rs1970204449 0.00001
NM_021098.3(CACNA1H):c.5609C>T (p.Ala1870Val) rs773943668 0.00001
NM_021098.3(CACNA1H):c.5638A>G (p.Ile1880Val) rs369689966 0.00001
NM_021098.3(CACNA1H):c.56C>G (p.Pro19Arg) rs1196939283 0.00001
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr) rs1175867441 0.00001
NM_021098.3(CACNA1H):c.5885T>G (p.Leu1962Trp) rs772374857 0.00001
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu) rs1483742539 0.00001
NM_021098.3(CACNA1H):c.6064G>A (p.Asp2022Asn) rs372375376 0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) rs1199118621 0.00001
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg) rs541001877 0.00001
NM_021098.3(CACNA1H):c.6274G>A (p.Glu2092Lys) rs778743259 0.00001
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp) rs772416042 0.00001
NM_021098.3(CACNA1H):c.6422A>G (p.Gln2141Arg) rs772532983 0.00001
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala) rs1348390859 0.00001
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys) rs1456584884 0.00001
NM_021098.3(CACNA1H):c.6868C>G (p.Pro2290Ala) rs1970426309 0.00001
NM_021098.3(CACNA1H):c.6892G>C (p.Gly2298Arg) rs771028729 0.00001
NM_021098.3(CACNA1H):c.7043G>A (p.Gly2348Asp) rs1201268826 0.00001
NM_021098.3(CACNA1H):c.727A>G (p.Ile243Val) rs776274017 0.00001
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser) rs774687054 0.00001
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser) rs751311855 0.00001
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile) rs1240507435 0.00001
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) rs119454948 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.874T>A (p.Ser292Thr) rs1967689942 0.00001
NC_000016.10:g.(?_1194952)_(1221014_?)dup
NC_000016.10:g.(?_1214952)_(1221014_?)dup
NC_000016.9:g.(?_1203738)_(1204056_?)dup
NC_000016.9:g.(?_1203738)_(1260155_?)dup
NC_000016.9:g.(?_1244952)_(1246043_?)dup
NC_000016.9:g.(?_1244952)_(1256309_?)dup
NC_000016.9:g.(?_1244952)_(1270994_?)del
NC_000016.9:g.(?_1244962)_(1260981_?)dup
NC_000016.9:g.(?_1244962)_(1270994_?)del
NC_000016.9:g.(?_1248595)_(1270994_?)dup
NC_000016.9:g.(?_1248605)_(1270994_?)dup
NC_000016.9:g.(?_1251643)_(1255285_?)del
NC_000016.9:g.(?_1264952)_(1270994_?)dup
NM_021098.3(CACNA1H):c.1029C>G (p.Tyr343Ter) rs375894182
NM_021098.3(CACNA1H):c.1033A>G (p.Asn345Asp) rs2141243964
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys) rs1567508720
NM_021098.3(CACNA1H):c.1119+13A>T rs1967734739
NM_021098.3(CACNA1H):c.1120-3C>A
NM_021098.3(CACNA1H):c.113_114delinsTT (p.Arg38Leu)
NM_021098.3(CACNA1H):c.1175C>G (p.Ser392Ter)
NM_021098.3(CACNA1H):c.1175C>T (p.Ser392Leu)
NM_021098.3(CACNA1H):c.1181A>G (p.Tyr394Cys)
NM_021098.3(CACNA1H):c.1213-18C>A rs57432507
NM_021098.3(CACNA1H):c.1215G>A (p.Val405=)
NM_021098.3(CACNA1H):c.1235A>G (p.Asn412Ser) rs779840429
NM_021098.3(CACNA1H):c.1283G>A (p.Arg428Gln) rs1452763580
NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs) rs1596408210
NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val) rs1227599612
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe) rs983437887
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser) rs771750212
NM_021098.3(CACNA1H):c.1332C>G (p.Asp444Glu) rs746803902
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly) rs770949848
NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp) rs1371342942
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn) rs1041969243
NM_021098.3(CACNA1H):c.1386G>C (p.Lys462Asn) rs2141256263
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val) rs1967962877
NM_021098.3(CACNA1H):c.1401A>G (p.Ile467Met) rs2141256394
NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val) rs1555498163
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val) rs918496310
NM_021098.3(CACNA1H):c.1432C>T (p.Leu478Phe) rs911317802
NM_021098.3(CACNA1H):c.1447C>G (p.Gln483Glu)
NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser) rs1208126657
NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu)
NM_021098.3(CACNA1H):c.1511_1516del (p.Gln504_Arg505del) rs1967981000
NM_021098.3(CACNA1H):c.1520C>T (p.Ala507Val) rs2141257602
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn)
NM_021098.3(CACNA1H):c.1546C>A (p.His516Asn) rs1057519554
NM_021098.3(CACNA1H):c.1566_1574del (p.His526_His528del)
NM_021098.3(CACNA1H):c.1567CAC[5] (p.His528del)
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup) rs760736442
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr)
NM_021098.3(CACNA1H):c.1611C>T (p.Arg537=)
NM_021098.3(CACNA1H):c.161C>T (p.Pro54Leu)
NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs)
NM_021098.3(CACNA1H):c.1647G>T (p.Arg549Ser)
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val) rs1249878702
NM_021098.3(CACNA1H):c.1669C>A (p.Pro557Thr)
NM_021098.3(CACNA1H):c.1700C>T (p.Pro567Leu) rs2141259768
NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs) rs2141259958
NM_021098.3(CACNA1H):c.1721G>A (p.Ser574Asn) rs1968018663
NM_021098.3(CACNA1H):c.1726T>C (p.Tyr576His)
NM_021098.3(CACNA1H):c.1727A>G (p.Tyr576Cys)
NM_021098.3(CACNA1H):c.1733C>T (p.Ala578Val) rs1968020467
NM_021098.3(CACNA1H):c.1763G>C (p.Arg588Thr) rs1439734393
NM_021098.3(CACNA1H):c.1785_1787del (p.Ala596del) rs1968031277
NM_021098.3(CACNA1H):c.1785_1796del (p.Thr597_Ala600del) rs773399229
NM_021098.3(CACNA1H):c.1789_1794del (p.Thr597_Ala598del) rs1968032311
NM_021098.3(CACNA1H):c.1790C>T (p.Thr597Ile) rs890994381
NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val)
NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln)
NM_021098.3(CACNA1H):c.1804C>T (p.Leu602Phe)
NM_021098.3(CACNA1H):c.1809_1810delinsGG (p.Leu604Val)
NM_021098.3(CACNA1H):c.1820G>A (p.Gly607Glu) rs781017160
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)
NM_021098.3(CACNA1H):c.1837_1844del (p.Tyr613fs) rs2141261620
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
NM_021098.3(CACNA1H):c.1847_1862del (p.Ile616fs)
NM_021098.3(CACNA1H):c.1849C>G (p.Leu617Val) rs867292141
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro) rs1433856447
NM_021098.3(CACNA1H):c.1880G>A (p.Ser627Asn) rs1453581368
NM_021098.3(CACNA1H):c.1885A>G (p.Ser629Gly)
NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg)
NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg)
NM_021098.3(CACNA1H):c.1919C>A (p.Pro640Gln) rs61734410
NM_021098.3(CACNA1H):c.1928C>G (p.Thr643Ser) rs1968059158
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg) rs761227158
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln) rs771171443
NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr)
NM_021098.3(CACNA1H):c.1943C>A (p.Pro648Gln)
NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly)
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) rs753052647
NM_021098.3(CACNA1H):c.1980C>G (p.Ile660Met)
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met) rs140979551
NM_021098.3(CACNA1H):c.1990G>A (p.Val664Ile)
NM_021098.3(CACNA1H):c.1991T>G (p.Val664Gly)
NM_021098.3(CACNA1H):c.1991_1992delinsCT (p.Val664Ala) rs1968071552
NM_021098.3(CACNA1H):c.1994G>C (p.Gly665Ala)
NM_021098.3(CACNA1H):c.1997A>C (p.Glu666Ala)
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) rs1057520145
NM_021098.3(CACNA1H):c.2026_2027del (p.Leu676fs)
NM_021098.3(CACNA1H):c.2027T>G (p.Leu676Arg)
NM_021098.3(CACNA1H):c.2033G>C (p.Gly678Ala) rs2141277713
NM_021098.3(CACNA1H):c.2039G>T (p.Ser680Ile)
NM_021098.3(CACNA1H):c.2050C>T (p.Pro684Ser)
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro) rs2141277907
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp) rs1596418694
NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg)
NM_021098.3(CACNA1H):c.2090T>G (p.Leu697Arg) rs2141278256
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn) rs1596419043
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg) rs774748739
NM_021098.3(CACNA1H):c.2177G>A (p.Gly726Asp)
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser) rs1596271034
NM_021098.3(CACNA1H):c.2199C>A (p.Asp733Glu)
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu) rs1402942281
NM_021098.3(CACNA1H):c.2225C>A (p.Pro742His) rs377176081
NM_021098.3(CACNA1H):c.2247G>A (p.Thr749=) rs774505050
NM_021098.3(CACNA1H):c.2254C>G (p.Pro752Ala)
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2]) rs756747669
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4]) rs756747669
NM_021098.3(CACNA1H):c.2255C>A (p.Pro752Gln)
NM_021098.3(CACNA1H):c.2258G>C (p.Gly753Ala) rs767816214
NM_021098.3(CACNA1H):c.2285_2300dup (p.Ala768fs)
NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr)
NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser) rs1428706132
NM_021098.3(CACNA1H):c.2312A>G (p.Glu771Gly) rs2141280761
NM_021098.3(CACNA1H):c.2320T>C (p.Trp774Arg)
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu) rs1596421279
NM_021098.3(CACNA1H):c.2336G>C (p.Trp779Ser)
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys) rs1473122688
NM_021098.3(CACNA1H):c.2359C>A (p.Arg787Ser) rs747178657
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His)
NM_021098.3(CACNA1H):c.2362C>G (p.Arg788Gly) rs3751664
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del) rs1420201619
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn) rs1567521021
NM_021098.3(CACNA1H):c.2403G>A (p.Met801Ile) rs2141281744
NM_021098.3(CACNA1H):c.2404G>A (p.Ala802Thr) rs2141281763
NM_021098.3(CACNA1H):c.2410C>T (p.Leu804Phe)
NM_021098.3(CACNA1H):c.241T>C (p.Phe81Leu)
NM_021098.3(CACNA1H):c.2437G>C (p.Glu813Gln) rs1555513209
NM_021098.3(CACNA1H):c.2443C>T (p.His815Tyr)
NM_021098.3(CACNA1H):c.2451+3G>A rs1596422577
NM_021098.3(CACNA1H):c.2451+4C>G rs764605459
NM_021098.3(CACNA1H):c.2451+5G>A
NM_021098.3(CACNA1H):c.2452-3C>T rs372018213
NM_021098.3(CACNA1H):c.2452-5T>A rs1471116016
NM_021098.3(CACNA1H):c.2452-5T>G
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro) rs2141288117
NM_021098.3(CACNA1H):c.2463_2466del (p.Thr822fs)
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile) rs369356684
NM_021098.3(CACNA1H):c.2482A>G (p.Ser828Gly)
NM_021098.3(CACNA1H):c.2498C>T (p.Thr833Ile) rs1404959892
NM_021098.3(CACNA1H):c.2500A>G (p.Ser834Gly)
NM_021098.3(CACNA1H):c.250G>T (p.Gly84Cys)
NM_021098.3(CACNA1H):c.2510C>T (p.Ala837Val)
NM_021098.3(CACNA1H):c.2522T>A (p.Leu841Gln) rs1223248915
NM_021098.3(CACNA1H):c.2528A>G (p.Lys843Arg)
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg) rs1596428768
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr) rs1596428784
NM_021098.3(CACNA1H):c.2550G>A (p.Leu850=) rs2141289134
NM_021098.3(CACNA1H):c.2565C>G (p.Asn855Lys) rs2141289290
NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala)
NM_021098.3(CACNA1H):c.2566C>T (p.Pro856Ser) rs1968541498
NM_021098.3(CACNA1H):c.2603+5G>A rs1968547662
NM_021098.3(CACNA1H):c.2603+5G>T
NM_021098.3(CACNA1H):c.2604-3C>T rs1489658003
NM_021098.3(CACNA1H):c.260C>T (p.Thr87Met)
NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=)
NM_021098.3(CACNA1H):c.2616C>G (p.Ile872Met) rs375605628
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly) rs547376627
NM_021098.3(CACNA1H):c.263G>A (p.Arg88Gln) rs1375491341
NM_021098.3(CACNA1H):c.2654C>T (p.Thr885Ile)
NM_021098.3(CACNA1H):c.2660G>A (p.Arg887Gln)
NM_021098.3(CACNA1H):c.2666T>C (p.Leu889Pro)
NM_021098.3(CACNA1H):c.2677A>G (p.Lys893Glu) rs2141297110
NM_021098.3(CACNA1H):c.2708G>T (p.Arg903Leu)
NM_021098.3(CACNA1H):c.2725G>T (p.Val909Leu)
NM_021098.3(CACNA1H):c.272G>C (p.Ser91Thr)
NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile)
NM_021098.3(CACNA1H):c.2736G>T (p.Met912Ile)
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg) rs1043511168
NM_021098.3(CACNA1H):c.2740A>G (p.Asn914Asp)
NM_021098.3(CACNA1H):c.2770C>T (p.Leu924Phe)
NM_021098.3(CACNA1H):c.2776A>C (p.Ile926Leu)
NM_021098.3(CACNA1H):c.2789+6C>T
NM_021098.3(CACNA1H):c.2790-24_2790-2del rs767709133
NM_021098.3(CACNA1H):c.2802G>T (p.Met934Ile)
NM_021098.3(CACNA1H):c.2806C>T (p.Leu936Phe) rs1471872554
NM_021098.3(CACNA1H):c.2834C>T (p.Thr945Ile)
NM_021098.3(CACNA1H):c.2840C>T (p.Thr947Ile)
NM_021098.3(CACNA1H):c.2854C>T (p.Pro952Ser) rs1339365288
NM_021098.3(CACNA1H):c.2857G>A (p.Asp953Asn)
NM_021098.3(CACNA1H):c.2859C>G (p.Asp953Glu)
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn)
NM_021098.3(CACNA1H):c.2878C>G (p.Leu960Val) rs1299774056
NM_021098.3(CACNA1H):c.2886G>C (p.Trp962Cys)
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val) rs1968823371
NM_021098.3(CACNA1H):c.2893G>A (p.Val965Ile)
NM_021098.3(CACNA1H):c.2932G>A (p.Val978Met)
NM_021098.3(CACNA1H):c.2946C>G (p.Asn982Lys)
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val) rs766946572
NM_021098.3(CACNA1H):c.2960C>T (p.Thr987Ile) rs891172463
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val)
NM_021098.3(CACNA1H):c.2977C>G (p.Leu993Val) rs1265393669
NM_021098.3(CACNA1H):c.299+7T>A
NM_021098.3(CACNA1H):c.2992C>T (p.Leu998Phe) rs768438272
NM_021098.3(CACNA1H):c.300-3C>T rs1596380517
NM_021098.3(CACNA1H):c.3011A>G (p.Tyr1004Cys)
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe) rs1242224134
NM_021098.3(CACNA1H):c.3025C>G (p.Leu1009Val)
NM_021098.3(CACNA1H):c.3035C>G (p.Ala1012Gly)
NM_021098.3(CACNA1H):c.3037A>G (p.Ile1013Val) rs2141309026
NM_021098.3(CACNA1H):c.3044T>C (p.Val1015Ala)
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu) rs771994752
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val)
NM_021098.3(CACNA1H):c.3084C>G (p.Asp1028Glu) rs1345041119
NM_021098.3(CACNA1H):c.3114C>G (p.Phe1038Leu) rs374946880
NM_021098.3(CACNA1H):c.3125T>C (p.Phe1042Ser)
NM_021098.3(CACNA1H):c.312C>G (p.His104Gln)
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys) rs1555514736
NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp)
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del) rs1555514742
NM_021098.3(CACNA1H):c.3154+4C>A
NM_021098.3(CACNA1H):c.3154+4C>G
NM_021098.3(CACNA1H):c.3154+4C>T
NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser) rs1968957429
NM_021098.3(CACNA1H):c.3182C>A (p.Thr1061Asn) rs2141316062
NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln)
NM_021098.3(CACNA1H):c.3220C>T (p.Pro1074Ser)
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu) rs1288170321
NM_021098.3(CACNA1H):c.3229A>G (p.Ile1077Val) rs1368323486
NM_021098.3(CACNA1H):c.3238A>C (p.Thr1080Pro) rs776256025
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser) rs1049677203
NM_021098.3(CACNA1H):c.3260C>G (p.Thr1087Ser) rs772383239
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile) rs772383239
NM_021098.3(CACNA1H):c.3262C>A (p.Pro1088Thr)
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser)
NM_021098.3(CACNA1H):c.3272C>T (p.Ser1091Leu) rs1184994482
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met) rs1567531841
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr)
NM_021098.3(CACNA1H):c.3317G>A (p.Gly1106Asp)
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3338C>G (p.Pro1113Arg)
NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile)
NM_021098.3(CACNA1H):c.3359C>T (p.Pro1120Leu)
NM_021098.3(CACNA1H):c.3363+3A>G
NM_021098.3(CACNA1H):c.3364-5C>A rs768382135
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr) rs1317286644
NM_021098.3(CACNA1H):c.3387_3395del (p.Cys1129_Pro1131del) rs1255783381
NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val)
NM_021098.3(CACNA1H):c.3391C>G (p.Pro1131Ala) rs377297229
NM_021098.3(CACNA1H):c.3398G>A (p.Gly1133Asp)
NM_021098.3(CACNA1H):c.3409G>A (p.Ala1137Thr)
NM_021098.3(CACNA1H):c.3416G>A (p.Ser1139Asn) rs1205390921
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) rs746597383
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup) rs746597383
NM_021098.3(CACNA1H):c.3445G>T (p.Gly1149Cys) rs753696656
NM_021098.3(CACNA1H):c.344T>C (p.Val115Ala)
NM_021098.3(CACNA1H):c.3451G>T (p.Ala1151Ser)
NM_021098.3(CACNA1H):c.3467G>C (p.Arg1156Pro)
NM_021098.3(CACNA1H):c.3488G>A (p.Arg1163His)
NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser) rs753966852
NM_021098.3(CACNA1H):c.3517G>A (p.Gly1173Ser) rs1969122865
NM_021098.3(CACNA1H):c.3517G>C (p.Gly1173Arg) rs1969122865
NM_021098.3(CACNA1H):c.351G>A (p.Leu117=)
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly) rs1379085668
NM_021098.3(CACNA1H):c.3533A>G (p.Glu1178Gly) rs2141327353
NM_021098.3(CACNA1H):c.3542A>G (p.Asp1181Gly)
NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla)
NM_021098.3(CACNA1H):c.354C>T (p.Gly118=) rs1342020189
NM_021098.3(CACNA1H):c.3550G>A (p.Ala1184Thr)
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His) rs1233148543
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val) rs1461904626
NM_021098.3(CACNA1H):c.3577_3578delinsTA (p.Leu1193Ter)
NM_021098.3(CACNA1H):c.3578T>A (p.Leu1193Gln)
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr) rs1185269498
NM_021098.3(CACNA1H):c.3614G>T (p.Arg1205Leu) rs58594334
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe) rs1969139516
NM_021098.3(CACNA1H):c.3656G>T (p.Gly1219Val)
NM_021098.3(CACNA1H):c.3697G>C (p.Asp1233His) rs768716174
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg) rs1176658784
NM_021098.3(CACNA1H):c.3723G>C (p.Glu1241Asp) rs547739256
NM_021098.3(CACNA1H):c.3723G>T (p.Glu1241Asp) rs547739256
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del) rs780993667
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro) rs1969157452
NM_021098.3(CACNA1H):c.3745-5C>A rs1405799623
NM_021098.3(CACNA1H):c.3750C>G (p.Cys1250Trp) rs761298608
NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val)
NM_021098.3(CACNA1H):c.3770T>C (p.Val1257Ala) rs2141335147
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn) rs189425202
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys)
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val) rs1969249888
NM_021098.3(CACNA1H):c.3833C>G (p.Ser1278Cys)
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=) rs763465373
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp) rs763465373
NM_021098.3(CACNA1H):c.3845+3G>A rs1969252611
NM_021098.3(CACNA1H):c.3846-32_3846-12del
NM_021098.3(CACNA1H):c.3854T>A (p.Val1285Asp) rs1359854181
NM_021098.3(CACNA1H):c.3857C>T (p.Ser1286Phe) rs776740325
NM_021098.3(CACNA1H):c.3865A>T (p.Lys1289Ter)
NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro)
NM_021098.3(CACNA1H):c.3883A>G (p.Met1295Val)
NM_021098.3(CACNA1H):c.3889G>C (p.Asp1297His) rs2141338845
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)
NM_021098.3(CACNA1H):c.3904G>A (p.Val1302Ile) rs200904795
NM_021098.3(CACNA1H):c.3907T>C (p.Phe1303Leu) rs2141339082
NM_021098.3(CACNA1H):c.3916C>G (p.Leu1306Val)
NM_021098.3(CACNA1H):c.3916C>T (p.Leu1306Phe) rs751450496
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser) rs767633946
NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe)
NM_021098.3(CACNA1H):c.3950A>G (p.Asp1317Gly)
NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer)
NM_021098.3(CACNA1H):c.395G>A (p.Arg132His)
NM_021098.3(CACNA1H):c.3969+1G>A rs1303395495
NM_021098.3(CACNA1H):c.3970-8C>G
NM_021098.3(CACNA1H):c.3973C>T (p.Arg1325Trp) rs777616508
NM_021098.3(CACNA1H):c.3987C>A (p.Ser1329Arg) rs770769436
NM_021098.3(CACNA1H):c.3995A>G (p.Asn1332Ser) rs1969322876
NM_021098.3(CACNA1H):c.4002C>G (p.Ile1334Met)
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys) rs370725735
NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met) rs370725735
NM_021098.3(CACNA1H):c.4008G>A (p.Thr1336=) rs372696265
NM_021098.3(CACNA1H):c.4012A>G (p.Ile1338Val)
NM_021098.3(CACNA1H):c.4038+4C>A
NM_021098.3(CACNA1H):c.4038+6G>C rs112068805
NM_021098.3(CACNA1H):c.4039-20_4039-19delinsAA
NM_021098.3(CACNA1H):c.403A>T (p.Ile135Phe) rs1184282257
NM_021098.3(CACNA1H):c.4072G>C (p.Ala1358Pro)
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser) rs1270361787
NM_021098.3(CACNA1H):c.410A>G (p.Glu137Gly)
NM_021098.3(CACNA1H):c.4126C>G (p.Leu1376Val)
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met)
NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly) rs566220434
NM_021098.3(CACNA1H):c.4162G>A (p.Gly1388Ser)
NM_021098.3(CACNA1H):c.4196G>A (p.Arg1399His) rs1457901172
NM_021098.3(CACNA1H):c.4223+3G>A rs1241517773
NM_021098.3(CACNA1H):c.4223+6G>T rs1969373645
NM_021098.3(CACNA1H):c.4224-8C>G
NM_021098.3(CACNA1H):c.4235G>A (p.Arg1412Gln)
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp) rs759233103
NM_021098.3(CACNA1H):c.4246C>T (p.Leu1416Phe)
NM_021098.3(CACNA1H):c.424T>C (p.Phe142Leu) rs2141197660
NM_021098.3(CACNA1H):c.4278_4279inv (p.Leu1427Phe)
NM_021098.3(CACNA1H):c.4279C>T (p.Leu1427Phe)
NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro)
NM_021098.3(CACNA1H):c.4286C>A (p.Pro1429His)
NM_021098.3(CACNA1H):c.4288A>G (p.Ile1430Val)
NM_021098.3(CACNA1H):c.4310G>A (p.Cys1437Tyr) rs2141346266
NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter)
NM_021098.3(CACNA1H):c.4316C>G (p.Ala1439Gly)
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val) rs1379672193
NM_021098.3(CACNA1H):c.4318T>A (p.Phe1440Ile)
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) rs1567541260
NM_021098.3(CACNA1H):c.4321T>A (p.Phe1441Ile)
NM_021098.3(CACNA1H):c.4327A>C (p.Ile1443Leu) rs777667628
NM_021098.3(CACNA1H):c.4340T>C (p.Leu1447Ser)
NM_021098.3(CACNA1H):c.4345G>A (p.Val1449Met) rs965904368
NM_021098.3(CACNA1H):c.4350+1G>A
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
NM_021098.3(CACNA1H):c.4393A>G (p.Arg1465Gly)
NM_021098.3(CACNA1H):c.4406C>G (p.Thr1469Ser)
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg) rs1567542033
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser) rs181140276
NM_021098.3(CACNA1H):c.443C>G (p.Ala148Gly)
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val) rs750887213
NM_021098.3(CACNA1H):c.4447C>T (p.Arg1483Cys)
NM_021098.3(CACNA1H):c.4476+6C>T rs1969458295
NM_021098.3(CACNA1H):c.4505C>G (p.Ser1502Cys) rs1969476340
NM_021098.3(CACNA1H):c.4505C>T (p.Ser1502Phe)
NM_021098.3(CACNA1H):c.4510G>A (p.Asp1504Asn) rs1969476982
NM_021098.3(CACNA1H):c.4515A>G (p.Gly1505=)
NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)
NM_021098.3(CACNA1H):c.4542G>A (p.Leu1514=) rs1969479808
NM_021098.3(CACNA1H):c.4546G>A (p.Ala1516Thr)
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile) rs1966873640
NM_021098.3(CACNA1H):c.4559A>G (p.Asp1520Gly)
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del) rs775597863
NM_021098.3(CACNA1H):c.4566+5G>A
NM_021098.3(CACNA1H):c.4580A>G (p.His1527Arg) rs2141351607
NM_021098.3(CACNA1H):c.4585C>T (p.Pro1529Ser)
NM_021098.3(CACNA1H):c.4588T>C (p.Trp1530Arg) rs1969502459
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg) rs2141351732
NM_021098.3(CACNA1H):c.4634T>C (p.Phe1545Ser) rs2141352066
NM_021098.3(CACNA1H):c.465G>T (p.Met155Ile) rs1159226662
NM_021098.3(CACNA1H):c.4704G>C (p.Glu1568Asp) rs967037376
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val) rs558718048
NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln)
NM_021098.3(CACNA1H):c.4720GAG[1] (p.Glu1575del) rs1447090901
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys)
NM_021098.3(CACNA1H):c.4726A>C (p.Lys1576Gln)
NM_021098.3(CACNA1H):c.4733T>G (p.Leu1578Arg) rs1969518741
NM_021098.3(CACNA1H):c.4752G>T (p.Arg1584Ser)
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu) rs774569737
NM_021098.3(CACNA1H):c.4759+1G>A rs1406256818
NM_021098.3(CACNA1H):c.4759+4A>G rs1567543703
NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg)
NM_021098.3(CACNA1H):c.4760-1G>T rs1173893014
NM_021098.3(CACNA1H):c.4760G>A (p.Ser1587Asn)
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala) rs1555517834
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser) rs1596462609
NM_021098.3(CACNA1H):c.4769C>T (p.Pro1590Leu) rs1969579859
NM_021098.3(CACNA1H):c.4777+1G>T
NM_021098.3(CACNA1H):c.4777+5C>G rs370513262
NM_021098.3(CACNA1H):c.4777+6G>C
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr)
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu) rs761945003
NM_021098.3(CACNA1H):c.4819C>A (p.Arg1607Ser)
NM_021098.3(CACNA1H):c.4832A>C (p.His1611Pro)
NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter)
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu) rs119454947
NM_021098.3(CACNA1H):c.4851C>A (p.His1617Gln)
NM_021098.3(CACNA1H):c.4862T>C (p.Leu1621Pro) rs1969748016
NM_021098.3(CACNA1H):c.4883G>T (p.Cys1628Phe)
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala) rs1555518486
NM_021098.3(CACNA1H):c.48C>T (p.Gly16=) rs1450404169
NM_021098.3(CACNA1H):c.4904C>T (p.Ser1635Phe) rs58146518
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg) rs1596466547
NM_021098.3(CACNA1H):c.4927A>C (p.Lys1643Gln) rs766396848
NM_021098.3(CACNA1H):c.4929+4G>A rs1969758497
NM_021098.3(CACNA1H):c.4930-3C>A rs1969886500
NM_021098.3(CACNA1H):c.4930-3C>T rs1969886500
NM_021098.3(CACNA1H):c.4945C>T (p.Leu1649Phe) rs1969888724
NM_021098.3(CACNA1H):c.4958A>G (p.Asn1653Ser) rs2141374211
NM_021098.3(CACNA1H):c.4973T>C (p.Ile1658Thr)
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val) rs1317563201
NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val)
NM_021098.3(CACNA1H):c.5023C>T (p.Arg1675Trp) rs760740366
NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn)
NM_021098.3(CACNA1H):c.5068C>G (p.Leu1690Val) rs755567471
NM_021098.3(CACNA1H):c.5084G>C (p.Gly1695Ala) rs1969920469
NM_021098.3(CACNA1H):c.5098G>T (p.Glu1700Ter) rs1555519084
NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del) rs1596470148
NM_021098.3(CACNA1H):c.5151G>A (p.Met1717Ile)
NM_021098.3(CACNA1H):c.5164A>G (p.Ile1722Val)
NM_021098.3(CACNA1H):c.5173+5G>A rs1567550121
NM_021098.3(CACNA1H):c.5173+9C>G rs1018925405
NM_021098.3(CACNA1H):c.5174-6C>A
NM_021098.3(CACNA1H):c.5174-8G>A rs200481928
NM_021098.3(CACNA1H):c.5198C>G (p.Thr1733Arg)
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser) rs1567495146
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys) rs750143885
NM_021098.3(CACNA1H):c.5236C>G (p.Leu1746Val)
NM_021098.3(CACNA1H):c.5255T>C (p.Leu1752Pro) rs1970075682
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del) rs1567552660
NM_021098.3(CACNA1H):c.5291C>T (p.Ala1764Val) rs200775729
NM_021098.3(CACNA1H):c.5347G>A (p.Glu1783Lys) rs1354832663
NM_021098.3(CACNA1H):c.5364C>G (p.His1788Gln) rs769283823
NM_021098.3(CACNA1H):c.5372T>A (p.Phe1791Tyr)
NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly) rs773893318
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys) rs773893318
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu) rs537055062
NM_021098.3(CACNA1H):c.5410G>A (p.Val1804Met)
NM_021098.3(CACNA1H):c.5428T>C (p.Trp1810Arg) rs2141392324
NM_021098.3(CACNA1H):c.5445+4C>A rs147142971
NM_021098.3(CACNA1H):c.5445+4C>G rs147142971
NM_021098.3(CACNA1H):c.5445+5C>T rs963438880
NM_021098.3(CACNA1H):c.5446-9C>A rs1596475466
NM_021098.3(CACNA1H):c.5455C>T (p.Arg1819Cys)
NM_021098.3(CACNA1H):c.546-2A>G
NM_021098.3(CACNA1H):c.5465C>G (p.Ser1822Cys) rs1970194241
NM_021098.3(CACNA1H):c.5473G>A (p.Asp1825Asn) rs2141393648
NM_021098.3(CACNA1H):c.5476A>G (p.Lys1826Glu)
NM_021098.3(CACNA1H):c.547A>T (p.Met183Leu) rs763029586
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg) rs202070652
NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val)
NM_021098.3(CACNA1H):c.5494C>G (p.Leu1832Val) rs61732194
NM_021098.3(CACNA1H):c.5501C>T (p.Ala1834Val)
NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro)
NM_021098.3(CACNA1H):c.5530G>A (p.Val1844Met)
NM_021098.3(CACNA1H):c.5539_5556dup (p.Ala1847_Val1852dup) rs2141394048
NM_021098.3(CACNA1H):c.5548G>T (p.Val1850Leu) rs986566182
NM_021098.3(CACNA1H):c.5560G>T (p.Val1854Leu)
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
NM_021098.3(CACNA1H):c.5582A>G (p.Lys1861Arg) rs2141394365
NM_021098.3(CACNA1H):c.5596A>C (p.Ser1866Arg)
NM_021098.3(CACNA1H):c.562_564del (p.Leu188del)
NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)
NM_021098.3(CACNA1H):c.5653G>A (p.Ala1885Thr)
NM_021098.3(CACNA1H):c.5674C>A (p.Arg1892Ser) rs1292896960
NM_021098.3(CACNA1H):c.567C>G (p.Asp189Glu) rs1175587489
NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr) rs1324632906
NM_021098.3(CACNA1H):c.5691C>A (p.Asp1897Glu)
NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser)
NM_021098.3(CACNA1H):c.5710G>T (p.Glu1904Ter) rs1172357662
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu) rs1555520320
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile) rs931586782
NM_021098.3(CACNA1H):c.5773C>T (p.Leu1925Phe) rs1366597055
NM_021098.3(CACNA1H):c.5783C>T (p.Pro1928Leu)
NM_021098.3(CACNA1H):c.5786A>G (p.Asn1929Ser)
NM_021098.3(CACNA1H):c.5802C>A (p.Phe1934Leu) rs746487526
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys)
NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His)
NM_021098.3(CACNA1H):c.5822C>G (p.Ser1941Trp) rs1291910282
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser) rs1970223117
NM_021098.3(CACNA1H):c.5830C>T (p.His1944Tyr) rs1413245721
NM_021098.3(CACNA1H):c.583_584delinsGC (p.Leu195Ala)
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu)
NM_021098.3(CACNA1H):c.5855A>T (p.Glu1952Val) rs1970226967
NM_021098.3(CACNA1H):c.5869G>A (p.Gly1957Arg)
NM_021098.3(CACNA1H):c.5873C>T (p.Ala1958Val) rs780614055
NM_021098.3(CACNA1H):c.5887+5G>T
NM_021098.3(CACNA1H):c.5888-18G>T
NM_021098.3(CACNA1H):c.5888G>C (p.Gly1963Ala)
NM_021098.3(CACNA1H):c.5906A>G (p.His1969Arg) rs996694379
NM_021098.3(CACNA1H):c.5920G>A (p.Glu1974Lys) rs2141398956
NM_021098.3(CACNA1H):c.5927G>T (p.Cys1976Phe) rs550577430
NM_021098.3(CACNA1H):c.5934C>G (p.Ser1978=)
NM_021098.3(CACNA1H):c.5935C>G (p.Leu1979Val)
NM_021098.3(CACNA1H):c.5935C>T (p.Leu1979Phe)
NM_021098.3(CACNA1H):c.5958G>T (p.Ser1986=)
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser) rs1567556646
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg) rs753397534
NM_021098.3(CACNA1H):c.59C>G (p.Pro20Arg)
NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn)
NM_021098.3(CACNA1H):c.6001C>G (p.Arg2001Gly)
NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser)
NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del)
NM_021098.3(CACNA1H):c.6011C>A (p.Ala2004Asp)
NM_021098.3(CACNA1H):c.6013C>A (p.Arg2005Ser) rs72552056
NM_021098.3(CACNA1H):c.6014G>T (p.Arg2005Leu) rs368553931
NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val) rs1970273640
NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro)
NM_021098.3(CACNA1H):c.6048+2_6048+5del rs1172256364
NM_021098.3(CACNA1H):c.6049-7C>G rs1970353381
NM_021098.3(CACNA1H):c.6056T>C (p.Val2019Ala) rs2141405874
NM_021098.3(CACNA1H):c.6061A>G (p.Thr2021Ala)
NM_021098.3(CACNA1H):c.6067T>G (p.Ser2023Ala)
NM_021098.3(CACNA1H):c.6068C>A (p.Ser2023Tyr)
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly) rs748236037
NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn)
NM_021098.3(CACNA1H):c.6103C>G (p.Leu2035Val) rs746778552
NM_021098.3(CACNA1H):c.6107A>C (p.Asp2036Ala)
NM_021098.3(CACNA1H):c.6107A>G (p.Asp2036Gly)
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys) rs1555520783
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436
NM_021098.3(CACNA1H):c.6143C>G (p.Pro2048Arg)
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu) rs2141406634
NM_021098.3(CACNA1H):c.6145G>A (p.Val2049Met) rs756418923
NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe)
NM_021098.3(CACNA1H):c.617C>G (p.Pro206Arg) rs1005279922
NM_021098.3(CACNA1H):c.6185C>T (p.Pro2062Leu) rs2141407028
NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter)
NM_021098.3(CACNA1H):c.6200T>C (p.Val2067Ala) rs1970366026
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His) rs765706404
NM_021098.3(CACNA1H):c.6208C>G (p.Arg2070Gly) rs758461760
NM_021098.3(CACNA1H):c.6229_6230delinsTA (p.Arg2077Tyr)
NM_021098.3(CACNA1H):c.6233G>A (p.Cys2078Tyr)
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro) rs1555520840
NM_021098.3(CACNA1H):c.6257C>T (p.Pro2086Leu)
NM_021098.3(CACNA1H):c.6260G>A (p.Gly2087Asp)
NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs)
NM_021098.3(CACNA1H):c.6286C>A (p.Pro2096Thr) rs1179774948
NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser) rs1179774948
NM_021098.3(CACNA1H):c.6290C>T (p.Ala2097Val)
NM_021098.3(CACNA1H):c.6296AGG[1] (p.Glu2100del) rs1567559045
NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys)
NM_021098.3(CACNA1H):c.6301G>A (p.Val2101Ile) rs1970373796
NM_021098.3(CACNA1H):c.6344C>A (p.Ala2115Asp) rs183014006
NM_021098.3(CACNA1H):c.6358C>T (p.Pro2120Ser)
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu) rs772154386
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val) rs769490814
NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp) rs1970381464
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys)
NM_021098.3(CACNA1H):c.642T>C (p.Pro214=)
NM_021098.3(CACNA1H):c.643+3A>G
NM_021098.3(CACNA1H):c.6431T>C (p.Leu2144Pro) rs1970385250
NM_021098.3(CACNA1H):c.6433G>T (p.Asp2145Tyr) rs1319777512
NM_021098.3(CACNA1H):c.6435del (p.Asp2145fs)
NM_021098.3(CACNA1H):c.6440C>A (p.Pro2147Gln)
NM_021098.3(CACNA1H):c.6445C>G (p.Arg2149Gly)
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp) rs752621913
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys) rs761679939
NM_021098.3(CACNA1H):c.645C>T (p.Ser215=) rs1171444249
NM_021098.3(CACNA1H):c.6463C>T (p.Arg2155Trp)
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
NM_021098.3(CACNA1H):c.6526G>C (p.Glu2176Gln) rs768826048
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del) rs766893201
NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala)
NM_021098.3(CACNA1H):c.6569C>T (p.Pro2190Leu)
NM_021098.3(CACNA1H):c.6581_6583del (p.Val2194del) rs763914077
NM_021098.3(CACNA1H):c.6583G>A (p.Glu2195Lys) rs1555521047
NM_021098.3(CACNA1H):c.6587C>G (p.Pro2196Arg) rs1265575905
NM_021098.3(CACNA1H):c.6595G>A (p.Glu2199Lys) rs2141410625
NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg)
NM_021098.3(CACNA1H):c.6614G>A (p.Arg2205Gln)
NM_021098.3(CACNA1H):c.662C>T (p.Thr221Ile) rs1368252007
NM_021098.3(CACNA1H):c.6630_6639dup (p.Thr2214fs)
NM_021098.3(CACNA1H):c.6632G>A (p.Gly2211Asp)
NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs)
NM_021098.3(CACNA1H):c.6634G>A (p.Gly2212Ser)
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala) rs1596481482
NM_021098.3(CACNA1H):c.6665C>A (p.Ser2222Tyr)
NM_021098.3(CACNA1H):c.6678_6704dup (p.Pro2227_Thr2235dup) rs2141411243
NM_021098.3(CACNA1H):c.6717_6893del (p.Gly2241_Ala2299del)
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs)
NM_021098.3(CACNA1H):c.6727G>A (p.Asp2243Asn) rs764148791
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs) rs753624103
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser) rs375586314
NM_021098.3(CACNA1H):c.6766T>C (p.Cys2256Arg) rs2141412071
NM_021098.3(CACNA1H):c.6766T>G (p.Cys2256Gly)
NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr)
NM_021098.3(CACNA1H):c.6770G>C (p.Arg2257Pro)
NM_021098.3(CACNA1H):c.6776A>C (p.Glu2259Ala)
NM_021098.3(CACNA1H):c.6794G>A (p.Ser2265Asn)
NM_021098.3(CACNA1H):c.6813G>A (p.Leu2271=) rs2141412462
NM_021098.3(CACNA1H):c.6818T>A (p.Leu2273His) rs943817403
NM_021098.3(CACNA1H):c.6821G>T (p.Gly2274Val)
NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe)
NM_021098.3(CACNA1H):c.6838C>G (p.Pro2280Ala) rs760918600
NM_021098.3(CACNA1H):c.6862G>A (p.Val2288Met)
NM_021098.3(CACNA1H):c.6869C>T (p.Pro2290Leu) rs1970426412
NM_021098.3(CACNA1H):c.6881C>T (p.Ala2294Val) rs540026021
NM_021098.3(CACNA1H):c.6890C>T (p.Ser2297Leu)
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)
NM_021098.3(CACNA1H):c.6899T>C (p.Ile2300Thr) rs774338957
NM_021098.3(CACNA1H):c.6911A>G (p.Glu2304Gly) rs1970429885
NM_021098.3(CACNA1H):c.6912A>C (p.Glu2304Asp)
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu) rs2141413399
NM_021098.3(CACNA1H):c.692G>T (p.Gly231Val)
NM_021098.3(CACNA1H):c.6953dup (p.Glu2319fs) rs750261505
NM_021098.3(CACNA1H):c.6958_6959del (p.Lys2320fs)
NM_021098.3(CACNA1H):c.6959A>G (p.Lys2320Arg) rs2141413668
NM_021098.3(CACNA1H):c.6971T>G (p.Leu2324Arg) rs1596482455
NM_021098.3(CACNA1H):c.7000G>T (p.Glu2334Ter)
NM_021098.3(CACNA1H):c.7009G>T (p.Gly2337Trp)
NM_021098.3(CACNA1H):c.7015C>T (p.Pro2339Ser)
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile) rs1970440739
NM_021098.3(CACNA1H):c.7034C>T (p.Pro2345Leu) rs1194032246
NM_021098.3(CACNA1H):c.7037G>T (p.Gly2346Val)
NM_021098.3(CACNA1H):c.7047_*15dup (p.Ala2349_Ter(2354_?)(?))
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu) rs150601404
NM_021098.3(CACNA1H):c.718G>C (p.Val240Leu) rs369630836
NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del) rs748582978
NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val) rs2151603406
NM_021098.3(CACNA1H):c.752T>C (p.Leu251Pro)
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr)
NM_021098.3(CACNA1H):c.836A>G (p.Tyr279Cys) rs1364510020
NM_021098.3(CACNA1H):c.842C>G (p.Thr281Arg)
NM_021098.3(CACNA1H):c.875C>T (p.Ser292Phe)
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro) rs2141242222
NM_021098.3(CACNA1H):c.884G>T (p.Arg295Leu) rs749305814
NM_021098.3(CACNA1H):c.892G>A (p.Gly298Ser)
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=) rs2141242375
NM_021098.3(CACNA1H):c.895A>T (p.Met299Leu) rs1219214145
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg) rs1195218337
NM_021098.3(CACNA1H):c.908C>G (p.Ser303Trp) rs867008505
NM_021098.3(CACNA1H):c.925C>T (p.Arg309Cys)
NM_021098.3(CACNA1H):c.956G>C (p.Trp319Ser)
NM_021098.3(CACNA1H):c.965A>T (p.Tyr322Phe)
NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val)
NM_021098.3(CACNA1H):c.989T>C (p.Val330Ala)

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