ClinVar Miner

List of variants in gene CACNA1A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 554
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HGVS dbSNP
NC_000019.10:g.13214647del
NC_000019.10:g.13228495_13228496del
NC_000019.10:g.13262728_13262729del
NC_000019.10:g.13275644del
NC_000019.10:g.13300318del
NC_000019.10:g.13330589_13330592del
NM_001127221.1(CACNA1A):c.*214C>T rs1057521445
NM_001127221.1(CACNA1A):c.*49G>A rs147221323
NM_001127221.1(CACNA1A):c.*577C>A rs16057
NM_001127221.1(CACNA1A):c.*643C>T rs16059
NM_001127221.1(CACNA1A):c.-11C>T rs1057522015
NM_001127221.1(CACNA1A):c.-27A>G rs761508895
NM_001127221.1(CACNA1A):c.-34G>T rs897702047
NM_001127221.1(CACNA1A):c.-42C>A rs1057518510
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127221.1(CACNA1A):c.1082+186C>A
NM_001127221.1(CACNA1A):c.1082+300C>T
NM_001127221.1(CACNA1A):c.1082+308T>C
NM_001127221.1(CACNA1A):c.1083-11T>C rs777235021
NM_001127221.1(CACNA1A):c.1083-266C>T
NM_001127221.1(CACNA1A):c.1083-4C>G rs201056216
NM_001127221.1(CACNA1A):c.1084G>T (p.Glu362Ter) rs1064796640
NM_001127221.1(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127221.1(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477
NM_001127221.1(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558
NM_001127221.1(CACNA1A):c.117C>T (p.Gly39=) rs374304094
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1191A>G (p.Ser397=) rs781149861
NM_001127221.1(CACNA1A):c.1198+168T>C
NM_001127221.1(CACNA1A):c.1198+16C>A rs375761179
NM_001127221.1(CACNA1A):c.1198+1G>A rs1057518513
NM_001127221.1(CACNA1A):c.1198+301G>C
NM_001127221.1(CACNA1A):c.1198+318G>A
NM_001127221.1(CACNA1A):c.1198+326T>A
NM_001127221.1(CACNA1A):c.1198+328A>T
NM_001127221.1(CACNA1A):c.1198+48G>A
NM_001127221.1(CACNA1A):c.1199-17G>C rs190836274
NM_001127221.1(CACNA1A):c.1199-194A>G
NM_001127221.1(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245
NM_001127221.1(CACNA1A):c.1215C>T (p.Ala405=) rs1346992540
NM_001127221.1(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531
NM_001127221.1(CACNA1A):c.1230C>T (p.Asp410=) rs751952553
NM_001127221.1(CACNA1A):c.1255+132T>C
NM_001127221.1(CACNA1A):c.1255+2dup rs1555767190
NM_001127221.1(CACNA1A):c.1256-191T>A
NM_001127221.1(CACNA1A):c.1256-191T>G
NM_001127221.1(CACNA1A):c.1256-221C>A
NM_001127221.1(CACNA1A):c.1256-237T>C
NM_001127221.1(CACNA1A):c.1260T>C (p.Ala420=) rs1555766602
NM_001127221.1(CACNA1A):c.1293A>G (p.Thr431=) rs1057522625
NM_001127221.1(CACNA1A):c.1308C>T (p.Pro436=) rs376451601
NM_001127221.1(CACNA1A):c.1348+72dupA
NM_001127221.1(CACNA1A):c.1348+76G>A
NM_001127221.1(CACNA1A):c.1348+7C>T rs192536793
NM_001127221.1(CACNA1A):c.1349-3C>T rs867600983
NM_001127221.1(CACNA1A):c.1359C>T (p.Phe453=) rs41276888
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter) rs886039668
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1371C>T (p.Ser457=) rs377458008
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1503G>A (p.Thr501=) rs373192672
NM_001127221.1(CACNA1A):c.1521T>C (p.Val507=) rs16009
NM_001127221.1(CACNA1A):c.1558+121C>T
NM_001127221.1(CACNA1A):c.1558+162G>A
NM_001127221.1(CACNA1A):c.1558+183A>C
NM_001127221.1(CACNA1A):c.1558+24C>T
NM_001127221.1(CACNA1A):c.1558+259G>A
NM_001127221.1(CACNA1A):c.1559-164G>A
NM_001127221.1(CACNA1A):c.1559-289A>T
NM_001127221.1(CACNA1A):c.1559-93T>A
NM_001127221.1(CACNA1A):c.1562A>G (p.Tyr521Cys) rs886039322
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.1589_1590del (p.Phe530fs) rs1555761603
NM_001127221.1(CACNA1A):c.1596C>T (p.Ser532=) rs372090886
NM_001127221.1(CACNA1A):c.1597G>A (p.Glu533Lys) rs1064794263
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) rs375628894
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1671+339C>T
NM_001127221.1(CACNA1A):c.1671+7G>A rs567507041
NM_001127221.1(CACNA1A):c.1672-17C>T rs755846938
NM_001127221.1(CACNA1A):c.1672-346G>A
NM_001127221.1(CACNA1A):c.1701C>T (p.Ile567=) rs190603219
NM_001127221.1(CACNA1A):c.1725A>G (p.Thr575=) rs1555759053
NM_001127221.1(CACNA1A):c.173_175del (p.Thr58del) rs1064795796
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.1784+18C>A rs16013
NM_001127221.1(CACNA1A):c.1784+7C>A rs202005119
NM_001127221.1(CACNA1A):c.1785-20C>T rs73513425
NM_001127221.1(CACNA1A):c.1785-5G>A rs1085307739
NM_001127221.1(CACNA1A):c.1785G>A (p.Lys595=) rs756972061
NM_001127221.1(CACNA1A):c.1892T>C (p.Leu631Ser) rs1057521564
NM_001127221.1(CACNA1A):c.1916+112G>A
NM_001127221.1(CACNA1A):c.1917-39G>A
NM_001127221.1(CACNA1A):c.1917-4G>A rs191026552
NM_001127221.1(CACNA1A):c.1968A>T (p.Ala656=)
NM_001127221.1(CACNA1A):c.1986T>C (p.Phe662=) rs368033271
NM_001127221.1(CACNA1A):c.1987C>T (p.Gln663Ter) rs1064795856
NM_001127221.1(CACNA1A):c.1990-16C>A rs1057523685
NM_001127221.1(CACNA1A):c.1992C>T (p.Ile664=) rs764413479
NM_001127221.1(CACNA1A):c.1993C>T (p.Leu665=) rs1246140836
NM_001127221.1(CACNA1A):c.2021T>C (p.Met674Thr) rs1064796036
NM_001127221.1(CACNA1A):c.2025C>T (p.Tyr675=) rs940460024
NM_001127221.1(CACNA1A):c.2028C>T (p.Asp676=) rs1170735669
NM_001127221.1(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_001127221.1(CACNA1A):c.2048G>T (p.Gly683Val) rs1057524618
NM_001127221.1(CACNA1A):c.2049C>T (p.Gly683=) rs535077726
NM_001127221.1(CACNA1A):c.2059G>A (p.Gly687Ser) rs1064795643
NM_001127221.1(CACNA1A):c.2065G>T (p.Val689Leu) rs762530372
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2108-15C>T rs190471428
NM_001127221.1(CACNA1A):c.2130G>T (p.Leu710Phe) rs886041654
NM_001127221.1(CACNA1A):c.2133C>G (p.Ala711=) rs16017
NM_001127221.1(CACNA1A):c.2136C>G (p.Ile712Met) rs764839814
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.2175+14G>A
NM_001127221.1(CACNA1A):c.2175+16G>A rs895983254
NM_001127221.1(CACNA1A):c.2175+4G>A
NM_001127221.1(CACNA1A):c.2175+9G>A rs368353124
NM_001127221.1(CACNA1A):c.2176-11G>A rs367573994
NM_001127221.1(CACNA1A):c.2176-12C>T rs16018
NM_001127221.1(CACNA1A):c.2176-271A>G
NM_001127221.1(CACNA1A):c.2176-284T>A
NM_001127221.1(CACNA1A):c.2176-62C>G
NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) rs16019
NM_001127221.1(CACNA1A):c.2261C>T (p.Ala754Val) rs200355966
NM_001127221.1(CACNA1A):c.2283-212C>T
NM_001127221.1(CACNA1A):c.2283-68C>A
NM_001127221.1(CACNA1A):c.2295G>C (p.Gln765His) rs747111223
NM_001127221.1(CACNA1A):c.2340T>C (p.Ser780=) rs1555756457
NM_001127221.1(CACNA1A):c.2359T>C (p.Leu787=) rs1555756445
NM_001127221.1(CACNA1A):c.2400G>A (p.Pro800=) rs996453280
NM_001127221.1(CACNA1A):c.2403C>T (p.Asp801=) rs376074188
NM_001127221.1(CACNA1A):c.2407C>A (p.Arg803Ser) rs760816963
NM_001127221.1(CACNA1A):c.2430G>T (p.Arg810=)
NM_001127221.1(CACNA1A):c.2438G>A (p.Arg813Gln) rs953797733
NM_001127221.1(CACNA1A):c.2486A>G (p.Gln829Arg) rs753196787
NM_001127221.1(CACNA1A):c.2490G>A (p.Glu830=) rs755434242
NM_001127221.1(CACNA1A):c.2524G>T (p.Ala842Ser) rs1057522204
NM_001127221.1(CACNA1A):c.2542C>T (p.Gln848Ter) rs1420078244
NM_001127221.1(CACNA1A):c.2609G>A (p.Arg870Gln) rs1057518589
NM_001127221.1(CACNA1A):c.2620G>C (p.Gly874Arg) rs750660386
NM_001127221.1(CACNA1A):c.2622C>T (p.Gly874=) rs761874927
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2624C>T (p.Ser875Leu) rs1057522802
NM_001127221.1(CACNA1A):c.2658A>G (p.Gly886=) rs1057524746
NM_001127221.1(CACNA1A):c.2679C>T (p.Ser893=) rs780515850
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2695G>A (p.Gly899Ser)
NM_001127221.1(CACNA1A):c.2721G>A (p.Arg907=) rs909344317
NM_001127221.1(CACNA1A):c.2732T>A (p.Leu911Gln) rs953766694
NM_001127221.1(CACNA1A):c.2732T>G (p.Leu911Arg) rs953766694
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2752G>A (p.Glu918Lys) rs368081042
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2757C>T (p.Gly919=) rs371757002
NM_001127221.1(CACNA1A):c.2760G>A (p.Glu920=) rs747307828
NM_001127221.1(CACNA1A):c.2768G>T (p.Arg923Leu) rs752824390
NM_001127221.1(CACNA1A):c.2790C>T (p.His930=) rs1555756078
NM_001127221.1(CACNA1A):c.2791C>T (p.Arg931Trp) rs367882437
NM_001127221.1(CACNA1A):c.27G>T (p.Pro9=) rs547576283
NM_001127221.1(CACNA1A):c.2802G>A (p.Val934=) rs761397410
NM_001127221.1(CACNA1A):c.2815G>C (p.Gly939Arg) rs771423362
NM_001127221.1(CACNA1A):c.2826G>A (p.Glu942=) rs374511141
NM_001127221.1(CACNA1A):c.2829C>T (p.Ser943=) rs181024112
NM_001127221.1(CACNA1A):c.2836G>C (p.Gly946Arg) rs527593196
NM_001127221.1(CACNA1A):c.2847C>G (p.Arg949=) rs559862641
NM_001127221.1(CACNA1A):c.2847_2856del (p.Ala952fs) rs1555755977
NM_001127221.1(CACNA1A):c.2856G>A (p.Ala952=) rs761522418
NM_001127221.1(CACNA1A):c.2860G>A (p.Gly954Arg) rs1057518292
NM_001127221.1(CACNA1A):c.2870G>A (p.Arg957Gln) rs551380805
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2882C>T (p.Ala961Val) rs762396014
NM_001127221.1(CACNA1A):c.2892G>A (p.Arg964=) rs1390620211
NM_001127221.1(CACNA1A):c.2898G>C (p.Gly966=) rs1057522107
NM_001127221.1(CACNA1A):c.2899G>A (p.Glu967Lys) rs747456771
NM_001127221.1(CACNA1A):c.2902G>T (p.Glu968Ter) rs1555755929
NM_001127221.1(CACNA1A):c.2906del (p.Gly969fs) rs1555755926
NM_001127221.1(CACNA1A):c.2910G>A (p.Pro970=) rs772557121
NM_001127221.1(CACNA1A):c.2927G>T (p.Arg976Leu) rs748418783
NM_001127221.1(CACNA1A):c.293+277A>G
NM_001127221.1(CACNA1A):c.293+53G>A
NM_001127221.1(CACNA1A):c.294-6C>T rs764502828
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.2961_2962dup (p.Arg988fs) rs1555755878
NM_001127221.1(CACNA1A):c.2963G>C (p.Arg988Pro) rs955869211
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[2] (p.991_992EG[2]) rs764399373
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[4] (p.991_992EG[4]) rs764399373
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.297C>T (p.Pro99=) rs370211834
NM_001127221.1(CACNA1A):c.2985_2990dup (p.Gly996_Pro997dup) rs995883431
NM_001127221.1(CACNA1A):c.29C>T (p.Ala10Val) rs952757731
NM_001127221.1(CACNA1A):c.3028G>A (p.Ala1010Thr) rs1555755834
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3042C>A (p.Tyr1014Ter) rs1568507151
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3046G>A (p.Gly1016Arg) rs190551509
NM_001127221.1(CACNA1A):c.3052G>C (p.Ala1018Pro) rs1131691393
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3082C>G (p.Arg1028Gly) rs1064794406
NM_001127221.1(CACNA1A):c.3093-165A>G
NM_001127221.1(CACNA1A):c.3093-324C>T
NM_001127221.1(CACNA1A):c.3106dup (p.Ser1036fs) rs1131691712
NM_001127221.1(CACNA1A):c.3120G>T (p.Val1040=) rs745981005
NM_001127221.1(CACNA1A):c.3122C>T (p.Ser1041Leu) rs776628272
NM_001127221.1(CACNA1A):c.3157C>T (p.Gln1053Ter) rs1568495944
NM_001127221.1(CACNA1A):c.3165G>A (p.Leu1055=) rs1057522586
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3173A>C (p.Gln1058Pro) rs1273138619
NM_001127221.1(CACNA1A):c.3229G>A (p.Ala1077Thr) rs554091859
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3264C>T (p.His1088=) rs776799566
NM_001127221.1(CACNA1A):c.3268G>T (p.Gly1090Cys) rs201311000
NM_001127221.1(CACNA1A):c.3291G>A (p.Lys1097=) rs1555752995
NM_001127221.1(CACNA1A):c.329C>T (p.Ala110Val) rs1085307798
NM_001127221.1(CACNA1A):c.3307G>A (p.Asp1103Asn) rs372823282
NM_001127221.1(CACNA1A):c.3311C>T (p.Pro1104Leu)
NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) rs374749004
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3358G>A (p.Ala1120Thr) rs199745070
NM_001127221.1(CACNA1A):c.3358G>C (p.Ala1120Pro) rs199745070
NM_001127221.1(CACNA1A):c.3375G>A (p.Thr1125=) rs770311284
NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) rs370541345
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3413C>G (p.Pro1138Arg) rs200333359
NM_001127221.1(CACNA1A):c.3416A>G (p.Lys1139Arg) rs746555911
NM_001127221.1(CACNA1A):c.3439G>A (p.Val1147Ile) rs376365775
NM_001127221.1(CACNA1A):c.3460C>G (p.Gln1154Glu) rs201612257
NM_001127221.1(CACNA1A):c.3492C>T (p.Pro1164=) rs771567638
NM_001127221.1(CACNA1A):c.3513C>A (p.Ile1171=) rs1431054685
NM_001127221.1(CACNA1A):c.3523T>G (p.Cys1175Gly) rs996509493
NM_001127221.1(CACNA1A):c.3532C>A (p.Pro1178Thr) rs1057522207
NM_001127221.1(CACNA1A):c.3533C>G (p.Pro1178Arg) rs201789073
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3534C>G (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3535dup (p.Leu1179fs) rs757953057
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3556+3G>T rs1057518586
NM_001127221.1(CACNA1A):c.3604_3606AAG[1] (p.Lys1203del) rs772989979
NM_001127221.1(CACNA1A):c.3609_3611GGA[3] (p.Glu1207del) rs750826355
NM_001127221.1(CACNA1A):c.3612G>A (p.Glu1204=) rs529584159
NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) rs201236364
NM_001127221.1(CACNA1A):c.3636A>C (p.Glu1212Asp) rs1555752275
NM_001127221.1(CACNA1A):c.3637G>T (p.Asp1213Tyr) rs201269793
NM_001127221.1(CACNA1A):c.3652A>G (p.Met1218Val) rs372017604
NM_001127221.1(CACNA1A):c.3659C>T (p.Pro1220Leu) rs573365997
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.3687G>A (p.Thr1229=) rs368048030
NM_001127221.1(CACNA1A):c.3695+156G>A
NM_001127221.1(CACNA1A):c.3695+20A>G rs934863410
NM_001127221.1(CACNA1A):c.3696-107G>A
NM_001127221.1(CACNA1A):c.3696-127T>C
NM_001127221.1(CACNA1A):c.3696-20C>T
NM_001127221.1(CACNA1A):c.3704G>A (p.Arg1235His) rs373183625
NM_001127221.1(CACNA1A):c.3730C>T (p.Arg1244Cys) rs1057524818
NM_001127221.1(CACNA1A):c.3753C>T (p.Leu1251=) rs1238454656
NM_001127221.1(CACNA1A):c.3767T>C (p.Met1256Thr) rs1085307644
NM_001127221.1(CACNA1A):c.3777C>T (p.Ile1259=) rs759641758
NM_001127221.1(CACNA1A):c.3786C>T (p.Ala1262=) rs1057523661
NM_001127221.1(CACNA1A):c.3806C>T (p.Pro1269Leu) rs1057522815
NM_001127221.1(CACNA1A):c.3809A>G (p.Asn1270Ser) rs997272721
NM_001127221.1(CACNA1A):c.3820_3822AAC[1] (p.Asn1275del) rs1085307864
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.3826-15T>A rs1389346234
NM_001127221.1(CACNA1A):c.3826-295G>T
NM_001127221.1(CACNA1A):c.3826-3C>T rs1057521929
NM_001127221.1(CACNA1A):c.3846C>T (p.Tyr1282=) rs774224202
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.3885+13T>C rs779233415
NM_001127221.1(CACNA1A):c.3886-15T>C rs767715097
NM_001127221.1(CACNA1A):c.3886-90G>A
NM_001127221.1(CACNA1A):c.399+3G>A rs1275496281
NM_001127221.1(CACNA1A):c.3992+11T>C rs762686149
NM_001127221.1(CACNA1A):c.3992+13G>A
NM_001127221.1(CACNA1A):c.3992+13G>T rs373480312
NM_001127221.1(CACNA1A):c.3992+16A>G rs149764550
NM_001127221.1(CACNA1A):c.3993-2A>G rs1057524483
NM_001127221.1(CACNA1A):c.400-123G>T
NM_001127221.1(CACNA1A):c.400-173C>T
NM_001127221.1(CACNA1A):c.4045C>T (p.Arg1349Trp) rs1064794858
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.4050G>T (p.Val1350=) rs1265632174
NM_001127221.1(CACNA1A):c.4055G>T (p.Arg1352Leu) rs1555745467
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4070T>G (p.Ile1357Ser) rs886041541
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4082C>A (p.Pro1361Gln) rs1064795800
NM_001127221.1(CACNA1A):c.4092+137T>A
NM_001127221.1(CACNA1A):c.4092+71T>C
NM_001127221.1(CACNA1A):c.4093-165G>A
NM_001127221.1(CACNA1A):c.4093-207T>G
NM_001127221.1(CACNA1A):c.4099T>A (p.Phe1367Ile) rs1057520749
NM_001127221.1(CACNA1A):c.409G>A (p.Glu137Lys) rs1057518116
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4177G>C (p.Val1393Leu) rs794727411
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4254-4G>A rs201785699
NM_001127221.1(CACNA1A):c.4284G>T (p.Glu1428Asp) rs768693060
NM_001127221.1(CACNA1A):c.4350G>C (p.Leu1450=) rs1419042501
NM_001127221.1(CACNA1A):c.4386G>A (p.Trp1462Ter) rs1057518069
NM_001127221.1(CACNA1A):c.4391+12G>A rs924927963
NM_001127221.1(CACNA1A):c.4391+19A>G rs1057524029
NM_001127221.1(CACNA1A):c.4391+221C>A
NM_001127221.1(CACNA1A):c.4413C>T (p.Asp1471=) rs374555263
NM_001127221.1(CACNA1A):c.4443C>T (p.Pro1481=)
NM_001127221.1(CACNA1A):c.4472A>G (p.Tyr1491Cys) rs1064795901
NM_001127221.1(CACNA1A):c.4482C>T (p.Tyr1494=) rs1057522060
NM_001127221.1(CACNA1A):c.4497_4499CTT[2] (p.Phe1502del) rs886041279
NM_001127221.1(CACNA1A):c.4504_4506del (p.Phe1502del) rs1131691374
NM_001127221.1(CACNA1A):c.4523C>A (p.Ala1508Asp) rs1064794629
NM_001127221.1(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549
NM_001127221.1(CACNA1A):c.4594-4G>A rs370348070
NM_001127221.1(CACNA1A):c.4594-9C>G rs16032
NM_001127221.1(CACNA1A):c.4628C>T (p.Pro1543Leu) rs773901223
NM_001127221.1(CACNA1A):c.4629G>A (p.Pro1543=) rs768317498
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4647G>A (p.Pro1549=) rs199854716
NM_001127221.1(CACNA1A):c.4665C>G (p.Phe1555Leu) rs182161386
NM_001127221.1(CACNA1A):c.4711A>T (p.Thr1571Ser) rs750368591
NM_001127221.1(CACNA1A):c.4713G>T (p.Thr1571=) rs761547761
NM_001127221.1(CACNA1A):c.4758+12A>C rs1057522757
NM_001127221.1(CACNA1A):c.4759-97G>A
NM_001127221.1(CACNA1A):c.4809C>T (p.Ile1603=) rs372240227
NM_001127221.1(CACNA1A):c.4839T>G (p.Cys1613Trp) rs781413708
NM_001127221.1(CACNA1A):c.4869+13T>C rs368876802
NM_001127221.1(CACNA1A):c.4870-301A>G
NM_001127221.1(CACNA1A):c.4870-71A>C
NM_001127221.1(CACNA1A):c.4870-8C>T rs1057522362
NM_001127221.1(CACNA1A):c.4899C>T (p.Phe1633=) rs374613316
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.4929C>T (p.Thr1643=) rs16036
NM_001127221.1(CACNA1A):c.4930G>A (p.Asp1644Asn) rs1064795531
NM_001127221.1(CACNA1A):c.4954-14C>T rs1019678447
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4990C>T (p.Arg1664Ter) rs1555738369
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5034C>A (p.Ile1678=) rs1555738339
NM_001127221.1(CACNA1A):c.5070+20G>A rs184517632
NM_001127221.1(CACNA1A):c.5115C>T (p.Ile1705=) rs1057521708
NM_001127221.1(CACNA1A):c.5134C>A (p.Gln1712Lys) rs1064795751
NM_001127221.1(CACNA1A):c.5136+10G>A rs369033909
NM_001127221.1(CACNA1A):c.5137-20G>A rs756590078
NM_001127221.1(CACNA1A):c.5158G>A (p.Asp1720Asn) rs368257155
NM_001127221.1(CACNA1A):c.5173G>A (p.Asp1725Asn) rs371595464
NM_001127221.1(CACNA1A):c.5203G>A (p.Glu1735Lys) rs1064795744
NM_001127221.1(CACNA1A):c.5208C>T (p.His1736=) rs1057523955
NM_001127221.1(CACNA1A):c.5252+165_5252+189del25
NM_001127221.1(CACNA1A):c.5252+209C>T
NM_001127221.1(CACNA1A):c.5252+78G>T
NM_001127221.1(CACNA1A):c.5253-55G>A
NM_001127221.1(CACNA1A):c.5262C>T (p.Thr1754=) rs376684786
NM_001127221.1(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127221.1(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127221.1(CACNA1A):c.5271T>C (p.Ala1757=) rs373678557
NM_001127221.1(CACNA1A):c.539+10G>A rs375079448
NM_001127221.1(CACNA1A):c.539+14G>A rs1057523199
NM_001127221.1(CACNA1A):c.539+152C>A
NM_001127221.1(CACNA1A):c.539+17A>G rs752280152
NM_001127221.1(CACNA1A):c.539+20C>T rs369959565
NM_001127221.1(CACNA1A):c.539+8G>A rs372925573
NM_001127221.1(CACNA1A):c.539+9C>T rs369146237
NM_001127221.1(CACNA1A):c.5396C>T (p.Ser1799Leu) rs1064794261
NM_001127221.1(CACNA1A):c.5397G>A (p.Ser1799=) rs201681631
NM_001127221.1(CACNA1A):c.5403+15A>C rs373246283
NM_001127221.1(CACNA1A):c.5403+18G>A rs16040
NM_001127221.1(CACNA1A):c.5403+7C>T rs1046598864
NM_001127221.1(CACNA1A):c.5404-10G>T rs370129945
NM_001127221.1(CACNA1A):c.5404-14C>T rs16042
NM_001127221.1(CACNA1A):c.5418T>C (p.Phe1806=) rs1057523399
NM_001127221.1(CACNA1A):c.5424C>T (p.Ala1808=) rs372359926
NM_001127221.1(CACNA1A):c.5454C>T (p.Thr1818=) rs188863534
NM_001127221.1(CACNA1A):c.546G>A (p.Leu182=) rs368347143
NM_001127221.1(CACNA1A):c.5471T>C (p.Leu1824Pro) rs1057521706
NM_001127221.1(CACNA1A):c.5474G>A (p.Gly1825Asp) rs1064795321
NM_001127221.1(CACNA1A):c.5482C>G (p.His1828Asp) rs1064795658
NM_001127221.1(CACNA1A):c.5491G>A (p.Glu1831Lys) rs746886324
NM_001127221.1(CACNA1A):c.549G>A (p.Ala183=) rs16004
NM_001127221.1(CACNA1A):c.5511C>T (p.Ala1837=) rs750338421
NM_001127221.1(CACNA1A):c.5520C>A (p.Asp1840Glu) rs372083869
NM_001127221.1(CACNA1A):c.5524G>A (p.Ala1842Thr) rs753229469
NM_001127221.1(CACNA1A):c.5531+16G>A rs775890060
NM_001127221.1(CACNA1A):c.5531+6A>G
NM_001127221.1(CACNA1A):c.5532-14T>C rs371000214
NM_001127221.1(CACNA1A):c.5532-64C>T
NM_001127221.1(CACNA1A):c.5584C>T (p.Pro1862Ser) rs1057518533
NM_001127221.1(CACNA1A):c.561G>A (p.Thr187=) rs777316026
NM_001127221.1(CACNA1A):c.5628+1547C>T
NM_001127221.1(CACNA1A):c.5629-56G>A
NM_001127221.1(CACNA1A):c.5652C>G (p.Pro1884=) rs61741139
NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) rs201836062
NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) rs17846921
NM_001127221.1(CACNA1A):c.5666A>G (p.Asn1889Ser) rs756378742
NM_001127221.1(CACNA1A):c.5673C>T (p.Val1891=) rs1044642598
NM_001127221.1(CACNA1A):c.5688C>T (p.Thr1896=) rs757291476
NM_001127221.1(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu) rs1064795173
NM_001127221.1(CACNA1A):c.5734+14A>G rs762304728
NM_001127221.1(CACNA1A):c.5734+14delA rs762645821
NM_001127221.1(CACNA1A):c.5734+159G>T
NM_001127221.1(CACNA1A):c.5734+19C>T rs1259224644
NM_001127221.1(CACNA1A):c.5734+20G>A rs774752183
NM_001127221.1(CACNA1A):c.5734+49C>T
NM_001127221.1(CACNA1A):c.5735-197G>A
NM_001127221.1(CACNA1A):c.5735-20T>C rs1425639727
NM_001127221.1(CACNA1A):c.5735-311G>A
NM_001127221.1(CACNA1A):c.5735-6T>C rs16043
NM_001127221.1(CACNA1A):c.5735-75A>G
NM_001127221.1(CACNA1A):c.5735-8C>T rs1057521521
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.5758G>A (p.Asp1920Asn) rs1064794441
NM_001127221.1(CACNA1A):c.5760C>T (p.Asp1920=) rs368042511
NM_001127221.1(CACNA1A):c.5771G>A (p.Arg1924Gln) rs771636070
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.5814G>A (p.Thr1938=)
NM_001127221.1(CACNA1A):c.5842+15C>T rs756095565
NM_001127221.1(CACNA1A):c.5842+1G>T rs951196653
NM_001127221.1(CACNA1A):c.5843-14G>A rs184658006
NM_001127221.1(CACNA1A):c.5843-16G>A rs771333825
NM_001127221.1(CACNA1A):c.5843-17C>T rs556502230
NM_001127221.1(CACNA1A):c.5843-82C>G
NM_001127221.1(CACNA1A):c.5847G>A (p.Thr1949=)
NM_001127221.1(CACNA1A):c.5871C>T (p.Tyr1957=) rs371972266
NM_001127221.1(CACNA1A):c.5883G>A (p.Met1961Ile) rs1085307557
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.5933G>A (p.Arg1978His) rs1057521547
NM_001127221.1(CACNA1A):c.5943+12G>A rs780841537
NM_001127221.1(CACNA1A):c.5943+15G>A rs370364972
NM_001127221.1(CACNA1A):c.5943+185G>A
NM_001127221.1(CACNA1A):c.5943+18C>G rs1057522421
NM_001127221.1(CACNA1A):c.5943+229C>T
NM_001127221.1(CACNA1A):c.5944-52C>T
NM_001127221.1(CACNA1A):c.5948G>A (p.Arg1983Gln) rs745775887
NM_001127221.1(CACNA1A):c.5989A>G (p.Thr1997Ala) rs141963371
NM_001127221.1(CACNA1A):c.5990C>T (p.Thr1997Met) rs778274864
NM_001127221.1(CACNA1A):c.5C>T (p.Ala2Val) rs927310190
NM_001127221.1(CACNA1A):c.6004C>T (p.Pro2002Ser) rs751947412
NM_001127221.1(CACNA1A):c.6018C>T (p.Ala2006=) rs369675855
NM_001127221.1(CACNA1A):c.6020T>G (p.Leu2007Arg) rs759624463
NM_001127221.1(CACNA1A):c.6058G>T (p.Ala2020Ser) rs1393616835
NM_001127221.1(CACNA1A):c.6064G>A (p.Glu2022Lys) rs202002033
NM_001127221.1(CACNA1A):c.6070G>A (p.Gly2024Ser) rs574805525
NM_001127221.1(CACNA1A):c.6072C>T (p.Gly2024=) rs773076084
NM_001127221.1(CACNA1A):c.6117del (p.Met2039fs) rs1064796199
NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met) rs563345694
NM_001127221.1(CACNA1A):c.6129G>A (p.Thr2043=) rs7249722
NM_001127221.1(CACNA1A):c.6158dup (p.Thr2054fs) rs1158454977
NM_001127221.1(CACNA1A):c.6163G>A (p.Asp2055Asn) rs761560224
NM_001127221.1(CACNA1A):c.6192+41G>A
NM_001127221.1(CACNA1A):c.6193-2A>C rs1064796709
NM_001127221.1(CACNA1A):c.6193-3C>A rs368480650
NM_001127221.1(CACNA1A):c.6193-4G>A rs769551839
NM_001127221.1(CACNA1A):c.6206G>A (p.Arg2069Gln) rs769040794
NM_001127221.1(CACNA1A):c.6220G>A (p.Asp2074Asn) rs1057524336
NM_001127221.1(CACNA1A):c.6237C>T (p.Ser2079=) rs758320697
NM_001127221.1(CACNA1A):c.6238G>A (p.Glu2080Lys) rs752513542
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.62C>T (p.Ala21Val) rs15999
NM_001127221.1(CACNA1A):c.6306+69A>C
NM_001127221.1(CACNA1A):c.631+14C>T
NM_001127221.1(CACNA1A):c.632-18C>A rs1057523722
NM_001127221.1(CACNA1A):c.632-7C>A rs1555774874
NM_001127221.1(CACNA1A):c.6320G>T (p.Arg2107Leu) rs373229577
NM_001127221.1(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866
NM_001127221.1(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127221.1(CACNA1A):c.6342+10G>C rs376238265
NM_001127221.1(CACNA1A):c.6342+11C>T rs190260468
NM_001127221.1(CACNA1A):c.6342+12G>A rs371246823
NM_001127221.1(CACNA1A):c.6342+309T>G
NM_001127221.1(CACNA1A):c.6342+9C>T rs369361580
NM_001127221.1(CACNA1A):c.6343-192G>A
NM_001127221.1(CACNA1A):c.6343-19G>A rs916904971
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6349T>G (p.Ser2117Ala) rs576057388
NM_001127221.1(CACNA1A):c.6375A>G (p.Ser2125=) rs760994682
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6400C>T (p.Arg2134Ter) rs1555730878
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001127221.1(CACNA1A):c.6411C>T (p.Asp2137=) rs779701046
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6469C>T (p.Arg2157Cys) rs554393704
NM_001127221.1(CACNA1A):c.6470G>A (p.Arg2157His) rs755749925
NM_001127221.1(CACNA1A):c.6471C>T (p.Arg2157=) rs745336852
NM_001127221.1(CACNA1A):c.6476G>A (p.Arg2159His) rs375859889
NM_001127221.1(CACNA1A):c.6486C>T (p.Arg2162=) rs745609731
NM_001127221.1(CACNA1A):c.6492dup (p.Glu2165Ter) rs1555730801
NM_001127221.1(CACNA1A):c.6497G>A (p.Arg2166His) rs727503832
NM_001127221.1(CACNA1A):c.6508C>T (p.Arg2170Cys) rs375354077
NM_001127221.1(CACNA1A):c.6529+11C>G rs767916527
NM_001127221.1(CACNA1A):c.6529+84G>A
NM_001127221.1(CACNA1A):c.6530-134C>T
NM_001127221.1(CACNA1A):c.6530-16C>T rs752985059
NM_001127221.1(CACNA1A):c.6530-19T>C rs375949210
NM_001127221.1(CACNA1A):c.6530G>T (p.Gly2177Val) rs763045560
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.6564C>T (p.Ser2188=) rs371116746
NM_001127221.1(CACNA1A):c.6576G>A (p.Pro2192=) rs554430594
NM_001127221.1(CACNA1A):c.6578C>T (p.Ser2193Leu) rs1325697290
NM_001127221.1(CACNA1A):c.6587G>A (p.Arg2196Gln) rs373192655
NM_001127221.1(CACNA1A):c.6590_6601del (p.Asp2197_Arg2200del) rs763941704
NM_001127221.1(CACNA1A):c.6598C>T (p.Arg2200Trp) rs1477386827
NM_001127221.1(CACNA1A):c.6604C>T (p.Arg2202Trp) rs1032588483
NM_001127221.1(CACNA1A):c.6611A>G (p.Lys2204Arg) rs1057521770
NM_001127221.1(CACNA1A):c.6613G>A (p.Asp2205Asn) rs747673128
NM_001127221.1(CACNA1A):c.6633C>G (p.His2211Gln) rs1006425986
NM_001127221.1(CACNA1A):c.6633_6635CCA[10] (p.His2220dup) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[11] (p.His2219_His2220dup) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[5] (p.His2217_His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[6] (p.His2218_His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6633_6635CCA[8] (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6649C>T (p.His2217Tyr) rs760470308
NM_001127221.1(CACNA1A):c.6650_6661del (p.His2217_His2220del) rs770368215
NM_001127221.1(CACNA1A):c.6653_6661del (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6656_6661del (p.His2219_His2220del) rs774721955
NM_001127221.1(CACNA1A):c.6659_6660delinsCC (p.His2220Pro) rs1085307607
NM_001127221.1(CACNA1A):c.6659_6661del (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6660delinsCCACCAC (p.His2219_His2220dup) rs1057518615
NM_001127221.1(CACNA1A):c.6662C>A (p.Pro2221His) rs16052
NM_001127221.1(CACNA1A):c.6665C>T (p.Pro2222Leu) rs778551911
NM_001127221.1(CACNA1A):c.6682C>T (p.Arg2228Cys) rs757715357
NM_001127221.1(CACNA1A):c.6683G>T (p.Arg2228Leu) rs1064793075
NM_001127221.1(CACNA1A):c.6697C>T (p.Arg2233Trp) rs751926317
NM_001127221.1(CACNA1A):c.6707A>G (p.His2236Arg) rs758639263
NM_001127221.1(CACNA1A):c.6734G>A (p.Arg2245His) rs1057521565
NM_001127221.1(CACNA1A):c.6763G>C (p.Glu2255Gln) rs779063280
NM_001127221.1(CACNA1A):c.6772G>A (p.Ala2258Thr) rs1057523197
NM_001127221.1(CACNA1A):c.6773C>G (p.Ala2258Gly) rs755099305
NM_001127221.1(CACNA1A):c.6777C>T (p.His2259=) rs766371895
NM_001127221.1(CACNA1A):c.6778C>A (p.Arg2260=) rs750267834
NM_001127221.1(CACNA1A):c.6778C>T (p.Arg2260Trp) rs750267834
NM_001127221.1(CACNA1A):c.6783+256G>C
NM_001127221.1(CACNA1A):c.6784-11G>A rs757167417
NM_001127221.1(CACNA1A):c.6784-17A>G rs1289629816
NM_001127221.1(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127221.1(CACNA1A):c.784+10C>T rs781363787
NM_001127221.1(CACNA1A):c.784+313C>T
NM_001127221.1(CACNA1A):c.785-120delT
NM_001127221.1(CACNA1A):c.785-93G>A
NM_001127221.1(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908
NM_001127221.1(CACNA1A):c.833C>T (p.Ala278Val) rs1064796561
NM_001127221.1(CACNA1A):c.864G>A (p.Gln288=) rs770448965
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127221.1(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127221.1(CACNA1A):c.903C>T (p.Phe301=) rs17846910
NM_001127221.1(CACNA1A):c.978+9T>C rs111366222
NM_001127221.1(CACNA1A):c.979-243A>G
NM_001127221.1(CACNA1A):c.990C>G (p.Ala330=) rs1555767932
NM_001127221.1(CACNA1A):c.992C>G (p.Ser331Ter) rs1555767930

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