ClinVar Miner

List of variants in gene CACNA1H reported as uncertain significance for Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV

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Gene type:
ClinVar version:
Total variants: 669
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His) rs201009269 0.00045
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351 0.00033
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val) rs755918582 0.00031
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val) rs538959856 0.00029
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911 0.00026
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647 0.00021
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381 0.00019
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys) rs375325893 0.00016
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.6244C>T (p.Arg2082Trp) rs771719773 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.2001T>A (p.His667Gln) rs1180154075 0.00014
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) rs777217625 0.00013
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys) rs376607278 0.00012
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg) rs369898856 0.00011
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys) rs56930579 0.00011
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met) rs747265858 0.00011
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser) rs370675810 0.00010
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His) rs200627008 0.00010
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His) rs374363044 0.00009
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn) rs932161061 0.00009
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser) rs373669637 0.00009
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu) rs775405041 0.00009
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.6143C>T (p.Pro2048Leu) rs535814707 0.00009
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His) rs200791167 0.00008
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser) rs556556052 0.00008
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser) rs780831084 0.00008
NM_021098.3(CACNA1H):c.5040-3C>T rs769178587 0.00008
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=) rs367929249 0.00008
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457 0.00007
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=) rs200522574 0.00007
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp) rs576035669 0.00007
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys) rs369185359 0.00007
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val) rs763675499 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg) rs776058661 0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro) rs377549389 0.00006
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys) rs753993842 0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583 0.00006
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val) rs754671059 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp) rs373867411 0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) rs375017750 0.00006
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile) rs374558503 0.00006
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205 0.00006
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531 0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452 0.00006
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp) rs771195242 0.00006
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys) rs367584657 0.00006
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys) rs577233623 0.00005
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His) rs994418105 0.00005
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611 0.00005
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu) rs765181693 0.00005
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg) rs752799249 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.6532G>A (p.Ala2178Thr) rs771909122 0.00005
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys) rs371658961 0.00004
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp) rs1459266876 0.00004
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys) rs756550215 0.00004
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) rs1325999341 0.00004
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys) rs1040565692 0.00004
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys) rs1367396955 0.00004
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs) rs759709148 0.00004
NM_021098.3(CACNA1H):c.2026C>A (p.Leu676Met) rs776134781 0.00004
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys) rs371324992 0.00004
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser) rs367610523 0.00004
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly) rs559573879 0.00004
NM_021098.3(CACNA1H):c.230C>T (p.Ala77Val) rs900768678 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.3082G>A (p.Asp1028Asn) rs745354512 0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) rs753159318 0.00004
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg) rs759262489 0.00004
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln) rs1002596641 0.00004
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln) rs758674093 0.00004
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp) rs372472186 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.4448G>A (p.Arg1483His) rs774455553 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.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.5950G>A (p.Ala1984Thr) rs761696834 0.00004
NM_021098.3(CACNA1H):c.5977G>A (p.Glu1993Lys) rs529327549 0.00004
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met) rs772154386 0.00004
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys) rs768826048 0.00004
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile) rs370867825 0.00004
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg) rs369329819 0.00004
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser) rs766354453 0.00004
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) rs759349379 0.00003
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser) rs747036748 0.00003
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg) rs761785619 0.00003
NM_021098.3(CACNA1H):c.2102C>T (p.Pro701Leu) rs772486214 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.2995A>G (p.Met999Val) rs774136809 0.00003
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met) rs371500703 0.00003
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg) rs748550409 0.00003
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln) rs751148760 0.00003
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln) rs775183925 0.00003
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326 0.00003
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala) rs774661170 0.00003
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile) rs150821225 0.00003
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys) rs753494538 0.00003
NM_021098.3(CACNA1H):c.4038+5C>T rs368592629 0.00003
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val) rs774773999 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.4823G>A (p.Arg1608His) rs199669141 0.00003
NM_021098.3(CACNA1H):c.5116G>A (p.Ala1706Thr) rs761499667 0.00003
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=) rs58835716 0.00003
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile) rs748947682 0.00003
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys) rs777952986 0.00003
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu) rs765757800 0.00003
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys) rs375586314 0.00003
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln) rs775972605 0.00003
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr) rs1231529131 0.00003
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp) rs767281564 0.00003
NM_021098.3(CACNA1H):c.1006G>A (p.Ala336Thr) rs754161411 0.00002
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile) rs748551891 0.00002
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu) rs1430474816 0.00002
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val) rs757893642 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val) rs1039258079 0.00002
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His) rs781343756 0.00002
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=) rs1348188346 0.00002
NM_021098.3(CACNA1H):c.2584G>A (p.Gly862Ser) rs747426357 0.00002
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val) rs1482408749 0.00002
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val) rs1471872554 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.3067G>A (p.Asp1023Asn) rs977157885 0.00002
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met) rs1437402680 0.00002
NM_021098.3(CACNA1H):c.322C>G (p.Leu108Val) rs746135723 0.00002
NM_021098.3(CACNA1H):c.3310C>T (p.Arg1104Trp) rs1198273560 0.00002
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His) rs369475886 0.00002
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr) rs375742212 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.3845+7C>T rs371494399 0.00002
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys) rs541678072 0.00002
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile) rs761199543 0.00002
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys) rs776740325 0.00002
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser) rs368825972 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.4795T>C (p.Tyr1599His) rs760412982 0.00002
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys) rs1315448028 0.00002
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met) rs779872782 0.00002
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe) rs369220355 0.00002
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile) rs766939282 0.00002
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg) rs563954985 0.00002
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=) rs372118811 0.00002
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His) rs752385455 0.00002
NM_021098.3(CACNA1H):c.6557A>T (p.Lys2186Met) rs370464756 0.00002
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) rs754398374 0.00002
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=) rs770681199 0.00002
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys) rs761083620 0.00002
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp) rs770202267 0.00002
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu) rs778943919 0.00002
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser) rs760918600 0.00002
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu) rs372848579 0.00002
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met) rs774565789 0.00002
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) rs377665479 0.00002
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val) rs751513581 0.00001
NM_021098.3(CACNA1H):c.1402T>C (p.Phe468Leu) rs1275378306 0.00001
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) rs746748953 0.00001
NM_021098.3(CACNA1H):c.1459C>T (p.Arg487Cys) rs907429190 0.00001
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) rs1230959391 0.00001
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr) rs902030420 0.00001
NM_021098.3(CACNA1H):c.1690C>T (p.Arg564Cys) rs1316230541 0.00001
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr) rs544916201 0.00001
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg) rs566589497 0.00001
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val) rs747987613 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624 0.00001
NM_021098.3(CACNA1H):c.2231G>A (p.Arg744Gln) rs373764821 0.00001
NM_021098.3(CACNA1H):c.2242G>A (p.Ala748Thr) rs746275171 0.00001
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln) rs757946905 0.00001
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu) rs540638287 0.00001
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met) rs1473122688 0.00001
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=) rs777762276 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val) rs772602372 0.00001
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp) rs760796226 0.00001
NM_021098.3(CACNA1H):c.2560C>T (p.Arg854Trp) rs200427760 0.00001
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val) rs770827490 0.00001
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys) rs1446439397 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 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.3043G>A (p.Val1015Met) rs376957651 0.00001
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=) rs575176246 0.00001
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys) rs970648879 0.00001
NM_021098.3(CACNA1H):c.3154+5G>A rs764360814 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.3314G>A (p.Arg1105His) rs764071122 0.00001
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg) rs1431381776 0.00001
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) rs772040768 0.00001
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=) rs1244188050 0.00001
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys) rs766406727 0.00001
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val) rs778186545 0.00001
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu) rs894257173 0.00001
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys) rs761063520 0.00001
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp) rs1399681066 0.00001
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln) rs201931839 0.00001
NM_021098.3(CACNA1H):c.3651C>T (p.Arg1217=) rs929083218 0.00001
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn) rs771215852 0.00001
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn) rs768716174 0.00001
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp) rs751642419 0.00001
NM_021098.3(CACNA1H):c.3962G>C (p.Gly1321Ala) rs1043239667 0.00001
NM_021098.3(CACNA1H):c.4038+4C>T rs1207045890 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.4350+6T>C rs367545564 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.4624G>A (p.Val1542Ile) rs745495784 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.478C>T (p.Leu160=) rs746919701 0.00001
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His) rs761945003 0.00001
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile) rs1015123563 0.00001
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr) rs577258290 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.493T>C (p.Cys165Arg) rs749032674 0.00001
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met) rs754276994 0.00001
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys) rs545768453 0.00001
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys) rs767277197 0.00001
NM_021098.3(CACNA1H):c.546-9C>T rs375982567 0.00001
NM_021098.3(CACNA1H):c.552G>A (p.Met184Ile) rs376566207 0.00001
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg) rs1970204449 0.00001
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val) rs139080716 0.00001
NM_021098.3(CACNA1H):c.5788G>A (p.Asp1930Asn) rs371573041 0.00001
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu) rs769441475 0.00001
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu) rs921830082 0.00001
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His) rs1312406661 0.00001
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu) rs1483742539 0.00001
NM_021098.3(CACNA1H):c.5957C>T (p.Ser1986Leu) rs1165393509 0.00001
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val) rs1387716276 0.00001
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu) rs1199118621 0.00001
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760 0.00001
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg) rs541001877 0.00001
NM_021098.3(CACNA1H):c.6238T>A (p.Ser2080Thr) rs761247671 0.00001
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr) rs570207081 0.00001
NM_021098.3(CACNA1H):c.6274G>A (p.Glu2092Lys) rs778743259 0.00001
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile) rs756344458 0.00001
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val) rs778892614 0.00001
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala) rs1025586071 0.00001
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln) rs776993441 0.00001
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu) rs779547523 0.00001
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile) rs745906833 0.00001
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val) rs776161185 0.00001
NM_021098.3(CACNA1H):c.6563G>A (p.Ser2188Asn) rs898257627 0.00001
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser) rs746807446 0.00001
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys) rs1456584884 0.00001
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr) rs1264293762 0.00001
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp) rs764354954 0.00001
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg) rs899655295 0.00001
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) rs554435610 0.00001
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile) rs750732485 0.00001
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu) rs766207096 0.00001
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg) rs753077813 0.00001
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln) rs1203994251 0.00001
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val) rs1418372954 0.00001
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu) rs990512900 0.00001
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser) rs751311855 0.00001
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) rs119454948 0.00001
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys) rs773167797 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln) rs749305814 0.00001
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=) rs57740463 0.00001
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys) rs758039020 0.00001
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp) rs747326278 0.00001
NM_021098.3(CACNA1H):c.1031A>C (p.Tyr344Ser)
NM_021098.3(CACNA1H):c.1041C>G (p.Cys347Trp)
NM_021098.3(CACNA1H):c.1042C>T (p.Arg348Cys)
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys) rs1567508720
NM_021098.3(CACNA1H):c.1108G>A (p.Ala370Thr)
NM_021098.3(CACNA1H):c.1157A>C (p.Tyr386Ser)
NM_021098.3(CACNA1H):c.1193A>G (p.Tyr398Cys)
NM_021098.3(CACNA1H):c.1213-10C>G rs373660548
NM_021098.3(CACNA1H):c.1231A>G (p.Ile411Val)
NM_021098.3(CACNA1H):c.124C>T (p.Arg42Trp)
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) rs370007023
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp) rs988908130
NM_021098.3(CACNA1H):c.1283G>A (p.Arg428Gln) rs1452763580
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
NM_021098.3(CACNA1H):c.1329C>A (p.Asn443Lys)
NM_021098.3(CACNA1H):c.1337C>T (p.Thr446Met)
NM_021098.3(CACNA1H):c.1343C>A (p.Ala448Asp)
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly) rs770949848
NM_021098.3(CACNA1H):c.1349_1366del (p.Phe450_Ser455del)
NM_021098.3(CACNA1H):c.135G>C (p.Glu45Asp)
NM_021098.3(CACNA1H):c.1395C>T (p.Gly465=)
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val) rs1967962877
NM_021098.3(CACNA1H):c.1406G>A (p.Arg469His)
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.1438G>A (p.Ala480Thr)
NM_021098.3(CACNA1H):c.1442G>A (p.Arg481His)
NM_021098.3(CACNA1H):c.1458G>C (p.Trp486Cys)
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala) rs935642453
NM_021098.3(CACNA1H):c.1474C>T (p.Pro492Ser)
NM_021098.3(CACNA1H):c.1490G>A (p.Gly497Asp)
NM_021098.3(CACNA1H):c.1516C>T (p.Arg506Trp) rs58593315
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn)
NM_021098.3(CACNA1H):c.1528C>T (p.His510Tyr)
NM_021098.3(CACNA1H):c.1541T>C (p.Val514Ala)
NM_021098.3(CACNA1H):c.1545C>G (p.His515Gln)
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup) rs760736442
NM_021098.3(CACNA1H):c.1576C>T (p.His526Tyr)
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr)
NM_021098.3(CACNA1H):c.1612A>G (p.Arg538Gly)
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val) rs1249878702
NM_021098.3(CACNA1H):c.1669C>T (p.Pro557Ser)
NM_021098.3(CACNA1H):c.1700C>A (p.Pro567His)
NM_021098.3(CACNA1H):c.1747G>A (p.Glu583Lys)
NM_021098.3(CACNA1H):c.1759G>C (p.Glu587Gln)
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) rs762960317
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile) rs773099504
NM_021098.3(CACNA1H):c.1852C>T (p.Pro618Ser)
NM_021098.3(CACNA1H):c.1878C>T (p.Gly626=)
NM_021098.3(CACNA1H):c.1897A>C (p.Lys633Gln)
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
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.1940G>A (p.Gly647Asp)
NM_021098.3(CACNA1H):c.1943C>T (p.Pro648Leu)
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg) rs778111473
NM_021098.3(CACNA1H):c.1961C>T (p.Pro654Leu)
NM_021098.3(CACNA1H):c.1982C>A (p.Pro661Gln)
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met) rs140979551
NM_021098.3(CACNA1H):c.2010C>T (p.Gly670=)
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) rs1057520145
NM_021098.3(CACNA1H):c.2038A>G (p.Ser680Gly)
NM_021098.3(CACNA1H):c.2065C>G (p.Pro689Ala)
NM_021098.3(CACNA1H):c.2065C>T (p.Pro689Ser)
NM_021098.3(CACNA1H):c.2066C>T (p.Pro689Leu)
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp) rs1596418694
NM_021098.3(CACNA1H):c.2077C>A (p.Leu693Met)
NM_021098.3(CACNA1H):c.2077C>G (p.Leu693Val)
NM_021098.3(CACNA1H):c.2092A>C (p.Lys698Gln)
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu) rs200422681
NM_021098.3(CACNA1H):c.2119C>G (p.Leu707Val)
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg) rs774748739
NM_021098.3(CACNA1H):c.2163C>A (p.Asp721Glu)
NM_021098.3(CACNA1H):c.2203C>G (p.Arg735Gly) rs191938566
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu) rs372759314
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu) rs1402942281
NM_021098.3(CACNA1H):c.2228C>G (p.Thr743Arg)
NM_021098.3(CACNA1H):c.2237C>T (p.Pro746Leu)
NM_021098.3(CACNA1H):c.2295G>C (p.Gln765His)
NM_021098.3(CACNA1H):c.2305C>T (p.Pro769Ser)
NM_021098.3(CACNA1H):c.2311G>A (p.Glu771Lys)
NM_021098.3(CACNA1H):c.2347A>G (p.Ser783Gly)
NM_021098.3(CACNA1H):c.234G>A (p.Thr78=)
NM_021098.3(CACNA1H):c.2350G>A (p.Gly784Ser)
NM_021098.3(CACNA1H):c.2359C>T (p.Arg787Cys)
NM_021098.3(CACNA1H):c.2359_2362delinsTGCT (p.Arg787_Arg788delinsCysCys)
NM_021098.3(CACNA1H):c.2365A>G (p.Ile789Val)
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del) rs1420201619
NM_021098.3(CACNA1H):c.2398A>G (p.Met800Val)
NM_021098.3(CACNA1H):c.2407A>G (p.Ile803Val)
NM_021098.3(CACNA1H):c.2428A>G (p.Met810Val)
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2473C>A (p.Leu825Met)
NM_021098.3(CACNA1H):c.2482A>G (p.Ser828Gly)
NM_021098.3(CACNA1H):c.2484C>G (p.Ser828Arg)
NM_021098.3(CACNA1H):c.2524C>A (p.Leu842Met)
NM_021098.3(CACNA1H):c.2527A>G (p.Lys843Glu)
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys) rs747426357
NM_021098.3(CACNA1H):c.2590A>G (p.Ile864Val)
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly) rs547376627
NM_021098.3(CACNA1H):c.2639T>G (p.Leu880Trp)
NM_021098.3(CACNA1H):c.2696C>T (p.Pro899Leu)
NM_021098.3(CACNA1H):c.2727G>A (p.Val909=)
NM_021098.3(CACNA1H):c.2759C>G (p.Thr920Arg)
NM_021098.3(CACNA1H):c.2767A>C (p.Met923Leu)
NM_021098.3(CACNA1H):c.2787C>A (p.Phe929Leu)
NM_021098.3(CACNA1H):c.2790-14G>A
NM_021098.3(CACNA1H):c.2827C>G (p.Leu943Val)
NM_021098.3(CACNA1H):c.2851G>T (p.Val951Leu)
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn)
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.294C>T (p.Cys98=)
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val) rs766946572
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val)
NM_021098.3(CACNA1H):c.298C>G (p.Pro100Ala)
NM_021098.3(CACNA1H):c.298C>T (p.Pro100Ser)
NM_021098.3(CACNA1H):c.299+12G>A
NM_021098.3(CACNA1H):c.3008A>G (p.Asn1003Ser)
NM_021098.3(CACNA1H):c.3016C>A (p.Leu1006Ile)
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe) rs1242224134
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu) rs771994752
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val)
NM_021098.3(CACNA1H):c.3088G>A (p.Asp1030Asn)
NM_021098.3(CACNA1H):c.3089A>C (p.Asp1030Ala)
NM_021098.3(CACNA1H):c.3092A>T (p.Glu1031Val)
NM_021098.3(CACNA1H):c.3126C>A (p.Phe1042Leu)
NM_021098.3(CACNA1H):c.3154+1G>A
NM_021098.3(CACNA1H):c.3155-7C>A
NM_021098.3(CACNA1H):c.3155-7C>G rs376008324
NM_021098.3(CACNA1H):c.3166T>G (p.Cys1056Gly)
NM_021098.3(CACNA1H):c.316A>C (p.Ser106Arg)
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met) rs369966669
NM_021098.3(CACNA1H):c.3178G>T (p.Val1060Leu)
NM_021098.3(CACNA1H):c.3179T>C (p.Val1060Ala)
NM_021098.3(CACNA1H):c.3209G>A (p.Gly1070Asp)
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) rs369474500
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) rs369474500
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu) rs1288170321
NM_021098.3(CACNA1H):c.3223C>T (p.Pro1075Ser)
NM_021098.3(CACNA1H):c.3224C>T (p.Pro1075Leu) rs772211003
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) rs1064793076
NM_021098.3(CACNA1H):c.325G>A (p.Val109Ile)
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser)
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr)
NM_021098.3(CACNA1H):c.3297C>A (p.Ser1099Arg)
NM_021098.3(CACNA1H):c.3322A>G (p.Ser1108Gly)
NM_021098.3(CACNA1H):c.3327C>G (p.Ser1109Arg)
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.334C>T (p.Leu112Phe)
NM_021098.3(CACNA1H):c.3363+15C>T
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr) rs1317286644
NM_021098.3(CACNA1H):c.3382C>T (p.Pro1128Ser)
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.343G>A (p.Val115Met) rs375342465
NM_021098.3(CACNA1H):c.3479G>A (p.Cys1160Tyr)
NM_021098.3(CACNA1H):c.347C>A (p.Thr116Asn)
NM_021098.3(CACNA1H):c.3482G>T (p.Gly1161Val)
NM_021098.3(CACNA1H):c.3512G>A (p.Gly1171Asp)
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly) rs1379085668
NM_021098.3(CACNA1H):c.3521G>A (p.Ser1174Asn)
NM_021098.3(CACNA1H):c.3550G>T (p.Ala1184Ser)
NM_021098.3(CACNA1H):c.3551C>T (p.Ala1184Val)
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.3614G>C (p.Arg1205Pro) rs58594334
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe) rs1969139516
NM_021098.3(CACNA1H):c.3638A>G (p.Lys1213Arg)
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3659A>C (p.Gln1220Pro)
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val) rs780672769
NM_021098.3(CACNA1H):c.3704A>G (p.His1235Arg)
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del) rs780993667
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.3777G>T (p.Glu1259Asp)
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys)
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val) rs1969249888
NM_021098.3(CACNA1H):c.3832T>C (p.Ser1278Pro)
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.3851G>A (p.Arg1284His) rs748613561
NM_021098.3(CACNA1H):c.3868G>A (p.Val1290Ile)
NM_021098.3(CACNA1H):c.3879C>A (p.His1293Gln)
NM_021098.3(CACNA1H):c.3882del (p.Met1295fs)
NM_021098.3(CACNA1H):c.3904G>C (p.Val1302Leu)
NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile) rs949144433
NM_021098.3(CACNA1H):c.3969C>G (p.Thr1323=)
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.4039-10C>T
NM_021098.3(CACNA1H):c.4079T>G (p.Leu1360Arg)
NM_021098.3(CACNA1H):c.409G>A (p.Glu137Lys)
NM_021098.3(CACNA1H):c.409G>C (p.Glu137Gln)
NM_021098.3(CACNA1H):c.411+8G>A
NM_021098.3(CACNA1H):c.411+9C>T
NM_021098.3(CACNA1H):c.4116G>A (p.Val1372=) rs2141343082
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met)
NM_021098.3(CACNA1H):c.4149G>A (p.Met1383Ile)
NM_021098.3(CACNA1H):c.4175T>G (p.Leu1392Arg)
NM_021098.3(CACNA1H):c.4223+20C>T
NM_021098.3(CACNA1H):c.4223+3G>A rs1241517773
NM_021098.3(CACNA1H):c.4268T>C (p.Leu1423Pro)
NM_021098.3(CACNA1H):c.427A>G (p.Ile143Val)
NM_021098.3(CACNA1H):c.4286C>T (p.Pro1429Leu)
NM_021098.3(CACNA1H):c.4316_4318delinsGCA (p.Ala1439_Phe1440delinsGlyIle)
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) rs1567541260
NM_021098.3(CACNA1H):c.4334G>C (p.Gly1445Ala)
NM_021098.3(CACNA1H):c.4351-16C>T
NM_021098.3(CACNA1H):c.4406C>T (p.Thr1469Ile)
NM_021098.3(CACNA1H):c.4436G>A (p.Arg1479His)
NM_021098.3(CACNA1H):c.445G>A (p.Val149Met)
NM_021098.3(CACNA1H):c.4474_4476+11dup
NM_021098.3(CACNA1H):c.4509G>C (p.Lys1503Asn)
NM_021098.3(CACNA1H):c.4532A>G (p.Tyr1511Cys)
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile) rs1966873640
NM_021098.3(CACNA1H):c.4566+5G>A
NM_021098.3(CACNA1H):c.4589G>A (p.Trp1530Ter)
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg) rs2141351732
NM_021098.3(CACNA1H):c.4700C>T (p.Ala1567Val)
NM_021098.3(CACNA1H):c.4708G>A (p.Ala1570Thr)
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val) rs558718048
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys)
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu) rs774569737
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
NM_021098.3(CACNA1H):c.4778-14C>A
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4811C>T (p.Ser1604Leu)
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His) rs377532485
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu) rs119454947
NM_021098.3(CACNA1H):c.4843A>T (p.Thr1615Ser)
NM_021098.3(CACNA1H):c.4850A>G (p.His1617Arg)
NM_021098.3(CACNA1H):c.4873_4875del (p.Phe1625del)
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg) rs1596466547
NM_021098.3(CACNA1H):c.4929+8C>A rs59027578
NM_021098.3(CACNA1H):c.493T>G (p.Cys165Gly)
NM_021098.3(CACNA1H):c.4945C>G (p.Leu1649Val)
NM_021098.3(CACNA1H):c.4975G>A (p.Val1659Met)
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val) rs1317563201
NM_021098.3(CACNA1H):c.5021G>A (p.Arg1674His) rs369914175
NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser) rs1966875937
NM_021098.3(CACNA1H):c.5034G>C (p.Lys1678Asn)
NM_021098.3(CACNA1H):c.5040-6dup
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) rs2141376108
NM_021098.3(CACNA1H):c.5108T>C (p.Met1703Thr)
NM_021098.3(CACNA1H):c.5150T>C (p.Met1717Thr)
NM_021098.3(CACNA1H):c.5173+9C>G rs1018925405
NM_021098.3(CACNA1H):c.5173G>A (p.Val1725Met)
NM_021098.3(CACNA1H):c.5173G>C (p.Val1725Leu)
NM_021098.3(CACNA1H):c.5174-13C>T
NM_021098.3(CACNA1H):c.5183T>C (p.Leu1728Pro)
NM_021098.3(CACNA1H):c.5192T>C (p.Met1731Thr)
NM_021098.3(CACNA1H):c.5193G>C (p.Met1731Ile)
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) rs370996432
NM_021098.3(CACNA1H):c.5320C>T (p.Leu1774=)
NM_021098.3(CACNA1H):c.5324-9_5324-6del
NM_021098.3(CACNA1H):c.5369C>T (p.Thr1790Ile) rs1970169663
NM_021098.3(CACNA1H):c.5419G>C (p.Gly1807Arg)
NM_021098.3(CACNA1H):c.5445+4C>G rs147142971
NM_021098.3(CACNA1H):c.5457C>T (p.Arg1819=) rs749678010
NM_021098.3(CACNA1H):c.546-14G>T rs779875096
NM_021098.3(CACNA1H):c.546-8G>C
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.5632G>A (p.Ala1878Thr)
NM_021098.3(CACNA1H):c.5654C>T (p.Ala1885Val)
NM_021098.3(CACNA1H):c.5671G>A (p.Ala1891Thr)
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
NM_021098.3(CACNA1H):c.5734C>T (p.Pro1912Ser)
NM_021098.3(CACNA1H):c.5756T>C (p.Val1919Ala)
NM_021098.3(CACNA1H):c.575A>G (p.Asn192Ser)
NM_021098.3(CACNA1H):c.5762T>C (p.Val1921Ala)
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile) rs931586782
NM_021098.3(CACNA1H):c.5779C>T (p.Leu1927=)
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys)
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser) rs1970223117
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His) rs376984823
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu) rs376984823
NM_021098.3(CACNA1H):c.5881C>T (p.Pro1961Ser)
NM_021098.3(CACNA1H):c.5883C>T (p.Pro1961=)
NM_021098.3(CACNA1H):c.5900C>G (p.Ser1967Cys)
NM_021098.3(CACNA1H):c.5989G>T (p.Ala1997Ser)
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) rs753241781
NM_021098.3(CACNA1H):c.6048+2_6048+5del rs1172256364
NM_021098.3(CACNA1H):c.6049-11C>A
NM_021098.3(CACNA1H):c.6049-8_6049-5del
NM_021098.3(CACNA1H):c.6053C>T (p.Ala2018Val)
NM_021098.3(CACNA1H):c.6068C>G (p.Ser2023Cys)
NM_021098.3(CACNA1H):c.6080A>G (p.Lys2027Arg)
NM_021098.3(CACNA1H):c.6117G>T (p.Glu2039Asp)
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436
NM_021098.3(CACNA1H):c.6134del (p.Pro2045fs)
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu) rs2141406634
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp) rs373707854
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His) rs765706404
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro) rs777897759
NM_021098.3(CACNA1H):c.6234C>G (p.Cys2078Trp)
NM_021098.3(CACNA1H):c.6235G>C (p.Val2079Leu)
NM_021098.3(CACNA1H):c.6245G>T (p.Arg2082Leu)
NM_021098.3(CACNA1H):c.6253G>A (p.Ala2085Thr)
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp) rs371550084
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) rs371550084
NM_021098.3(CACNA1H):c.632A>G (p.Asn211Ser)
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys) rs370434906
NM_021098.3(CACNA1H):c.635G>A (p.Arg212His)
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys)
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu) rs752385455
NM_021098.3(CACNA1H):c.6402G>T (p.Arg2134Ser)
NM_021098.3(CACNA1H):c.640C>A (p.Pro214Thr)
NM_021098.3(CACNA1H):c.644-6C>T
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.6487G>A (p.Gly2163Arg)
NM_021098.3(CACNA1H):c.6503C>T (p.Ala2168Val)
NM_021098.3(CACNA1H):c.6539G>A (p.Gly2180Asp)
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del) rs766893201
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.3(CACNA1H):c.6570dup (p.Cys2191fs)
NM_021098.3(CACNA1H):c.6670G>C (p.Glu2224Gln)
NM_021098.3(CACNA1H):c.6674C>T (p.Ala2225Val)
NM_021098.3(CACNA1H):c.6703A>G (p.Thr2235Ala)
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs)
NM_021098.3(CACNA1H):c.6727del (p.Asp2243fs)
NM_021098.3(CACNA1H):c.6749G>C (p.Arg2250Pro)
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_021098.3(CACNA1H):c.6913C>A (p.Pro2305Thr)
NM_021098.3(CACNA1H):c.6913C>T (p.Pro2305Ser)
NM_021098.3(CACNA1H):c.6914C>G (p.Pro2305Arg)
NM_021098.3(CACNA1H):c.691G>C (p.Gly231Arg)
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu) rs2141413399
NM_021098.3(CACNA1H):c.6949C>A (p.Pro2317Thr)
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) rs759417643
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr) rs757713867
NM_021098.3(CACNA1H):c.7024A>G (p.Thr2342Ala)
NM_021098.3(CACNA1H):c.7031C>T (p.Ala2344Val)
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu) rs150601404
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr)
NM_021098.3(CACNA1H):c.75G>T (p.Leu25Phe)
NM_021098.3(CACNA1H):c.769C>T (p.Arg257Trp)
NM_021098.3(CACNA1H):c.770G>T (p.Arg257Leu)
NM_021098.3(CACNA1H):c.800T>G (p.Val267Gly)
NM_021098.3(CACNA1H):c.804-11C>T
NM_021098.3(CACNA1H):c.804G>A (p.Arg268=)
NM_021098.3(CACNA1H):c.82G>A (p.Ala28Thr)
NM_021098.3(CACNA1H):c.841A>G (p.Thr281Ala)
NM_021098.3(CACNA1H):c.863C>T (p.Pro288Leu)
NM_021098.3(CACNA1H):c.875C>A (p.Ser292Tyr)
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=) rs2141242375
NM_021098.3(CACNA1H):c.896T>C (p.Met299Thr)
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg) rs1195218337
NM_021098.3(CACNA1H):c.89C>T (p.Pro30Leu)
NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg)
NM_021098.3(CACNA1H):c.941C>T (p.Pro314Leu)
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) rs752653043

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