ClinVar Miner

List of variants in gene CACNA1A reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 434
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.08263
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03420
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02172
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.01946
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01726
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01323
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01192
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01021
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00722
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) rs181024112 0.00609
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00191
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00182
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00107
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00088
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00064
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_001127222.2(CACNA1A):c.6974_6976dup (p.Gln2325_Ala2326insGlu) rs772835259 0.00060
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381 0.00055
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) rs374511141 0.00045
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=) rs61741139 0.00042
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00037
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=) rs368042511 0.00036
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=) rs16036 0.00031
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227 0.00028
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=) rs745981005 0.00027
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys) rs573941336 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00021
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00019
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=) rs372275167 0.00017
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=) rs368016666 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=) rs772557121 0.00015
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00015
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=) rs374954726 0.00015
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00015
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) rs200625174 0.00011
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val) rs927310190 0.00011
NM_001127222.2(CACNA1A):c.4290G>A (p.Ala1430=) rs555959123 0.00010
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) rs535077726 0.00009
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) rs529584159 0.00009
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) rs373183625 0.00009
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266 0.00009
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=) rs779250946 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001127222.2(CACNA1A):c.4591-5C>T rs199631921 0.00008
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00008
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) rs17846944 0.00007
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu) rs754998423 0.00007
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp) rs367882437 0.00007
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) rs1038705410 0.00007
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) rs772988279 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=) rs372090886 0.00006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=) rs1188340576 0.00006
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=) rs370211834 0.00006
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00006
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) rs368347143 0.00006
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) rs574805525 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser) rs758924907 0.00006
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) rs538079885 0.00005
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro) rs762288499 0.00005
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00005
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) rs368183370 0.00005
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp) rs1262547488 0.00004
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val) rs539463134 0.00004
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser) rs763992341 0.00004
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=) rs781149861 0.00003
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His) rs763944721 0.00003
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=) rs755434242 0.00003
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu) rs752824390 0.00003
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=) rs768168157 0.00003
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu) rs776628272 0.00003
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val) rs370396470 0.00003
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00003
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu) rs554455455 0.00003
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln) rs369440853 0.00003
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=) rs377083200 0.00003
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) rs1187916307 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291 0.00003
NM_001127222.2(CACNA1A):c.5940+5G>A rs780060495 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00003
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn) rs761560224 0.00003
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=) rs974692135 0.00003
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) rs779044548 0.00003
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu) rs1336146310 0.00003
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=) rs2304094 0.00003
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val) rs1005732031 0.00003
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) rs185034915 0.00002
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=) rs764816582 0.00002
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=) rs759875039 0.00002
NM_001127222.2(CACNA1A):c.2524G>A (p.Glu842Lys) rs767534576 0.00002
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=) rs761929729 0.00002
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg) rs953766694 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu) rs182161386 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=) rs540390772 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) rs747673128 0.00002
NM_001127221.2(CACNA1A):c.5536C>T (p.Arg1846Trp) rs561575026 0.00001
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln) rs865831227 0.00001
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys) rs2058491162 0.00001
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg) rs1448345243 0.00001
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser) rs1426869372 0.00001
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val) rs774203605 0.00001
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=) rs866879440 0.00001
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=) rs371827685 0.00001
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=) rs765687431 0.00001
NM_001127222.2(CACNA1A):c.1696A>C (p.Ile566Leu) rs1568519066 0.00001
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) rs560241650 0.00001
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=) rs764413479 0.00001
NM_001127222.2(CACNA1A):c.2172+8C>T rs200277127 0.00001
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) rs200355966 0.00001
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr) rs376308062 0.00001
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=) rs996453280 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys) rs199850826 0.00001
NM_001127222.2(CACNA1A):c.2516G>A (p.Arg839Gln) rs773476849 0.00001
NM_001127222.2(CACNA1A):c.2645C>T (p.Pro882Leu) rs2057732172 0.00001
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly) rs2057731758 0.00001
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His) rs1290079536 0.00001
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn) rs923472334 0.00001
NM_001127222.2(CACNA1A):c.2877C>A (p.Arg959=) rs2512906185 0.00001
NM_001127222.2(CACNA1A):c.2891C>A (p.Pro964His) rs1161926847 0.00001
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp) rs1337869540 0.00001
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) rs1361244265 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.3004A>G (p.Arg1002Gly) rs1175036875 0.00001
NM_001127222.2(CACNA1A):c.308T>C (p.Met103Thr) rs2060984965 0.00001
NM_001127222.2(CACNA1A):c.3132G>A (p.Leu1044=) rs778727852 0.00001
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) rs200850308 0.00001
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu) rs752075131 0.00001
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser) rs753077104 0.00001
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr) rs371820430 0.00001
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser) rs1215692574 0.00001
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu) rs760744104 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727 0.00001
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg) rs746195332 0.00001
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser) rs374932564 0.00001
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=) rs1467183042 0.00001
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu) rs573365997 0.00001
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys) rs781738239 0.00001
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=) rs369635454 0.00001
NM_001127222.2(CACNA1A):c.3724C>T (p.Leu1242=) rs1275961783 0.00001
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=) rs913405402 0.00001
NM_001127222.2(CACNA1A):c.4389-5T>C rs896214992 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=) rs767743815 0.00001
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn) rs766254024 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) rs267605294 0.00001
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=) rs561301072 0.00001
NM_001127222.2(CACNA1A):c.5654C>G (p.Ala1885Gly) rs2055370745 0.00001
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476 0.00001
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser) rs1205866071 0.00001
NM_001127222.2(CACNA1A):c.5824G>A (p.Val1942Ile) rs1391437893 0.00001
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met) rs748279762 0.00001
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met) rs749251058 0.00001
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val) rs2054861568 0.00001
NM_001127222.2(CACNA1A):c.5978C>T (p.Pro1993Leu) rs866667085 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly) rs2054851950 0.00001
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu) rs774164327 0.00001
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) rs1174830824 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys) rs758498629 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln) rs751044309 0.00001
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00001
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys) rs1198604369 0.00001
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928 0.00001
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys) rs746582303 0.00001
NM_001127222.2(CACNA1A):c.6526+6C>T rs1366998583 0.00001
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) rs1335828021 0.00001
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser) rs768221184 0.00001
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg) rs936533797 0.00001
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu) rs1317740666 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001127221.2(CACNA1A):c.5537G>A (p.Arg1846Gln) rs770936656
NM_001127221.2(CACNA1A):c.5588_5589del (p.Leu1863fs) rs1431092862
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser) rs2513049302
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1267A>G (p.Thr423Ala) rs1555766588
NM_001127222.2(CACNA1A):c.1271C>A (p.Thr424Asn) rs1357654531
NM_001127222.2(CACNA1A):c.1346G>A (p.Gly449Asp)
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=) rs769457749
NM_001127222.2(CACNA1A):c.1490C>G (p.Ala497Gly) rs1568528100
NM_001127222.2(CACNA1A):c.155T>C (p.Met52Thr) rs2513709279
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter) rs1568523843
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe) rs1568519134
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile) rs2145004244
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter) rs1555758842
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs) rs1568518139
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2020T>C (p.Tyr674His) rs2512931560
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn) rs906669300
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser) rs749526415
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) rs886037945
NM_001127222.2(CACNA1A):c.2151_2156delinsAGATAGCCACCTGCAATGGCATGACTTTTCTTATGGGCGGGTTCATTTCTGA (p.Asn718_Ala719delinsAspSerHisLeuGlnTrpHisAspPheSerTyrGlyArgValHisPheTer)
NM_001127222.2(CACNA1A):c.2229G>C (p.Lys743Asn)
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys) rs1374890716
NM_001127222.2(CACNA1A):c.2385C>G (p.Asn795Lys) rs1016423592
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu) rs953797733
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp) rs755434242
NM_001127222.2(CACNA1A):c.2491C>G (p.Arg831Gly) rs1464680327
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2509A>C (p.Lys837Gln)
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro) rs754326939
NM_001127222.2(CACNA1A):c.2608G>T (p.Asp870Tyr) rs1273480766
NM_001127222.2(CACNA1A):c.2633A>T (p.Asp878Val) rs1568508904
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp) rs1408152396
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser) rs770618033
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg) rs1358948688
NM_001127222.2(CACNA1A):c.2715C>G (p.Ala905=) rs1208222207
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs) rs1555756091
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=) rs772941423
NM_001127222.2(CACNA1A):c.2806C>A (p.Gln936Lys) rs1318353774
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter) rs1318353774
NM_001127222.2(CACNA1A):c.2811G>C (p.Gly937=) rs1322679497
NM_001127222.2(CACNA1A):c.2846C>G (p.Thr949Arg) rs1241124662
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro) rs551380805
NM_001127222.2(CACNA1A):c.2894G>A (p.Gly965Glu) rs2512905986
NM_001127222.2(CACNA1A):c.2915A>G (p.Lys972Arg) rs2512905820
NM_001127222.2(CACNA1A):c.2916G>C (p.Lys972Asn)
NM_001127222.2(CACNA1A):c.2921A>G (p.Glu974Gly) rs2512905775
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln) rs2057722066
NM_001127222.2(CACNA1A):c.3002G>A (p.Arg1001His) rs1424294725
NM_001127222.2(CACNA1A):c.3026C>T (p.Ala1009Val) rs1480140651
NM_001127222.2(CACNA1A):c.3089+3A>C rs2512904242
NM_001127222.2(CACNA1A):c.3091_3094del rs2512858528
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs) rs1131691712
NM_001127222.2(CACNA1A):c.3108G>C (p.Gly1036=) rs774593050
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln) rs762820663
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val) rs755317765
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys) rs2512856985
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu) rs201647627
NM_001127222.2(CACNA1A):c.3390C>G (p.Asn1130Lys)
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3414G>C (p.Lys1138Asn) rs1600245661
NM_001127222.2(CACNA1A):c.3442A>T (p.Asn1148Tyr) rs2512856462
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg) rs374932564
NM_001127222.2(CACNA1A):c.3493C>G (p.His1165Asp)
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg) rs201789073
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val) rs556266465
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=) rs1568661972
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser) rs781026181
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His) rs374286965
NM_001127222.2(CACNA1A):c.371A>G (p.Asp124Gly) rs2513512080
NM_001127222.2(CACNA1A):c.3724C>G (p.Leu1242Val) rs1275961783
NM_001127222.2(CACNA1A):c.3726G>A (p.Leu1242=) rs1568491811
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3823-3C>T rs1057521929
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu) rs995835535
NM_001127222.2(CACNA1A):c.3872T>C (p.Met1291Thr)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4065del (p.Ile1356fs)
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) rs1275025158
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4579G>C (p.Glu1527Gln) rs1568468148
NM_001127222.2(CACNA1A):c.4591-5C>A rs199631921
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val) rs2512728885
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln) rs775048630
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr) rs2144735184
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) rs1568465560
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) rs781413708
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val) rs2513503660
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser) rs2512648964
NM_001127222.2(CACNA1A):c.506G>A (p.Trp169Ter)
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5134-2A>C rs2512644126
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=) rs940275222
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val) rs866087553
NM_001127222.2(CACNA1A):c.5626C>T (p.Arg1876Trp) rs2055372401
NM_001127222.2(CACNA1A):c.564G>A (p.Glu188=) rs955675148
NM_001127222.2(CACNA1A):c.5736_5737dup (p.Ala1913fs)
NM_001127222.2(CACNA1A):c.5875A>G (p.Met1959Val) rs1289572963
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs) rs2512543709
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys) rs1555732391
NM_001127222.2(CACNA1A):c.5941-2A>G rs1555731992
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg) rs1314467957
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) rs2059326410
NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys) rs1568423655
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg) rs1568581246
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp) rs200093958
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu) rs1317004203
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys) rs1255940553
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs) rs1555730902
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=) rs946116668
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=) rs1456597171
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=) rs371116746
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del) rs763941704
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg) rs763941704
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[11] (p.His2218_His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6641_6658del (p.His2214_His2219del) rs1453912866
NM_001127222.2(CACNA1A):c.6650A>G (p.His2217Arg) rs2054686938
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis) rs768950814
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.665C>T (p.Ala222Val) rs2513175677
NM_001127222.2(CACNA1A):c.6661_6662insACCCCC (p.Pro2220_Pro2221insHisPro) rs1241272699
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=) rs1447103387
NM_001127222.2(CACNA1A):c.6669C>G (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001127222.2(CACNA1A):c.6685G>T (p.Ala2229Ser) rs2054683125
NM_001127222.2(CACNA1A):c.7139C>T (p.Pro2380Leu)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7349G>A (p.Arg2450His) rs1327100600
NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu) rs2512505274
NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val) rs1239663368
NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His) rs779631503
NM_001127222.2(CACNA1A):c.748G>A (p.Gly250Arg) rs2513175416
NM_001127222.2(CACNA1A):c.752A>G (p.Lys251Arg) rs2513175376
NM_001127222.2(CACNA1A):c.803C>T (p.Ser268Phe)
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127222.2(CACNA1A):c.955G>C (p.Gly319Arg) rs2513151764

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