ClinVar Miner

List of variants in gene CACNA1A reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
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.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala) rs544924244 0.00130
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) rs371116746 0.00064
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.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227 0.00029
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
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.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=) rs772557121 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00016
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786 0.00014
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 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
NC_000019.10:g.13599806G>A rs970127068 0.00011
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) rs200625174 0.00011
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=) rs554430594 0.00011
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=) rs754935637 0.00011
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) rs535077726 0.00009
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=) rs759641758 0.00009
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) rs751926317 0.00009
NM_001127222.2(CACNA1A):c.4591-5C>T rs199631921 0.00008
NM_001127222.2(CACNA1A):c.2172+9G>A rs368353124 0.00007
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=) rs371952826 0.00007
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=) rs761522418 0.00006
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=) rs771567638 0.00006
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) rs368347143 0.00006
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser) rs758924907 0.00006
NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=) rs1015330748 0.00006
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=) rs745876675 0.00005
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=) rs1447103387 0.00005
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.2105-8A>G rs763822129 0.00004
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=) rs368211900 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.6235G>A (p.Glu2079Lys) rs752513542 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.7306G>A (p.Ala2436Thr) rs754573556 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val) rs774203605 0.00003
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=) rs369129616 0.00003
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=) rs772768681 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=) rs372359926 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=) rs144137960 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.5940+4C>T rs749339070 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln) rs373229577 0.00003
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=) rs1336839525 0.00003
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) rs756780624 0.00003
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys) rs1189054127 0.00002
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=) rs916089734 0.00002
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=) rs760679421 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=) rs368203745 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00002
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala) rs576057388 0.00002
NM_001127222.2(CACNA1A):c.6417G>A (p.Ser2139=) rs1174598861 0.00002
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu) rs778551911 0.00002
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) rs886039322 0.00001
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) rs560241650 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=) rs774629539 0.00001
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) rs769887736 0.00001
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val) rs1335209785 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu) rs1487101039 0.00001
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) rs754979047 0.00001
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) rs1442995931 0.00001
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala) rs773766180 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp) rs772611976 0.00001
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3236C>A (p.Ala1079Asp) rs1064797232 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=) rs751700486 0.00001
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile) rs746222908 0.00001
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) rs1057518532 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His) rs777769751 0.00001
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=) rs201844207 0.00001
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=) rs751799133 0.00001
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=) rs753902560 0.00001
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) rs773461333 0.00001
NM_001127222.2(CACNA1A):c.5400+8T>C rs772508313 0.00001
NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala) rs1402384624 0.00001
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855 0.00001
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=) rs1282402038 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln) rs751044309 0.00001
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) rs757715357 0.00001
NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=) rs745440661 0.00001
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=) rs770448965 0.00001
GRCh37/hg19 19p13.2(chr19:13363805-13363915)x1
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1
NC_000019.10:g.13198071A>T
NC_000019.10:g.13599842C>A
NC_000019.10:g.13599844G>A
NC_000019.10:g.13599907C>T
NM_001127222.2(CACNA1A):c.1083-2A>G
NM_001127222.2(CACNA1A):c.1144C>T (p.Gln382Ter)
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1191A>C (p.Ser397=)
NM_001127222.2(CACNA1A):c.1198+8C>T
NM_001127222.2(CACNA1A):c.1255+5C>T
NM_001127222.2(CACNA1A):c.126C>G (p.Pro42=)
NM_001127222.2(CACNA1A):c.1346-6T>C rs1352231097
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg) rs1239292406
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His) rs1568528172
NM_001127222.2(CACNA1A):c.1507G>C (p.Val503Leu)
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs)
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1739T>A (p.Val580Glu) rs1064797233
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn) rs1600292598
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs) rs1568518113
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln) rs576099495
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn) rs771905201
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg) rs1568509826
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) rs2144958118
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=) rs201998077
NM_001127222.2(CACNA1A):c.2484G>C (p.Gln828His)
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala) rs2057734618
NM_001127222.2(CACNA1A):c.2575A>G (p.Arg859Gly)
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr) rs1283974516
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro) rs1057518589
NM_001127222.2(CACNA1A):c.2657G>A (p.Ser886Asn) rs2144955896
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)
NM_001127222.2(CACNA1A):c.2715C>T (p.Ala905=)
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
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>T (p.Glu992Ter) rs2057722066
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.3051G>C (p.Ala1017=)
NM_001127222.2(CACNA1A):c.3084G>A (p.Arg1028=)
NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=) rs2057413345
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg) rs753077104
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.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu) rs200333359
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter) rs201612257
NM_001127222.2(CACNA1A):c.346G>T (p.Ala116Ser)
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr) rs1256731049
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly) rs778036647
NM_001127222.2(CACNA1A):c.354G>C (p.Glu118Asp) rs2144947250
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
NM_001127222.2(CACNA1A):c.3644A>G (p.Lys1215Arg) rs1425955042
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3735dup (p.Glu1246Ter)
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.41_55dup (p.Gly14_Gly18dup) rs1057519100
NM_001127222.2(CACNA1A):c.422T>C (p.Ile141Thr) rs2144936441
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) rs1275025158
NM_001127222.2(CACNA1A):c.4473C>G (p.Val1491=)
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg) rs752888622
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=) rs1294804448
NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs) rs2144726274
NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs) rs2144726226
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs) rs2056443833
NM_001127222.2(CACNA1A):c.4872T>C (p.Tyr1624=)
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter) rs2056193902
NM_001127222.2(CACNA1A):c.4956C>T (p.Asn1652=)
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5295C>T (p.Leu1765=)
NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg) rs1600130730
NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro) rs1568443280
NM_001127222.2(CACNA1A):c.5400+2T>C rs1057519197
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro) rs1057521706
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs) rs1600127096
NM_001127222.2(CACNA1A):c.5529-1171G>A rs1555736262
NM_001127222.2(CACNA1A):c.5529-1215C>G
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr) rs923359230
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met) rs1015798325
NM_001127222.2(CACNA1A):c.5645T>C (p.Leu1882Pro)
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs) rs2144536044
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg)
NM_001127222.2(CACNA1A):c.6030G>T (p.Gln2010His)
NM_001127222.2(CACNA1A):c.6031C>T (p.Leu2011=)
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter) rs746848153
NM_001127222.2(CACNA1A):c.60C>T (p.Ala20=)
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala) rs759252101
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6327G>A (p.Gly2109=)
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6432G>A (p.Pro2144=)
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=) rs2054695798
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del) rs763941704
NM_001127222.2(CACNA1A):c.6604C>T (p.Pro2202Ser)
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr) rs1555730624
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) rs1600079735
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220=) rs771726163
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=)
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) rs758639263
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=) rs771429351
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.6841C>T (p.Arg2281Trp)
NM_001127222.2(CACNA1A):c.6885A>C (p.Pro2295=)
NM_001127222.2(CACNA1A):c.6894C>T (p.Ser2298=)
NM_001127222.2(CACNA1A):c.68T>C (p.Val23Ala)
NM_001127222.2(CACNA1A):c.6923G>A (p.Gly2308Asp)
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.6981G>A (p.Val2327=)
NM_001127222.2(CACNA1A):c.7097G>C (p.Arg2366Thr)
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001127222.2(CACNA1A):c.7151G>A (p.Arg2384Gln)
NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp) rs987861675
NM_001127222.2(CACNA1A):c.716T>C (p.Ile239Thr) rs1599292445
NM_001127222.2(CACNA1A):c.7190T>C (p.Val2397Ala)
NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=) rs774776009
NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=) rs1218506473
NM_001127222.2(CACNA1A):c.7219C>T (p.His2407Tyr)
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val) rs775829854
NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)
NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=)
NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7275C>T (p.Gly2425=)
NM_001127222.2(CACNA1A):c.72C>T (p.Val24=) rs773531250
NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys)
NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs) rs1214586505
NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448=) rs770109102
NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser) rs954720308
NM_001127222.2(CACNA1A):c.736G>A (p.Glu246Lys)
NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs) rs2144488778
NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu) rs1171910645
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) rs1199275549
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) rs1199275549
NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp)
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=)
NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497=) rs1368524598
NM_001127222.2(CACNA1A):c.784+3A>G
NM_001127222.2(CACNA1A):c.788A>G (p.Asp263Gly)
NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290
NM_001127222.2(CACNA1A):c.849T>C (p.Asn283=)
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val) rs1599276891

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