Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53811314G>ACA353259468CACNA1Dc.6454G>A (p.Asp2152Asn)
n.1783G>A
n.3393G>A
n.1829G>A
c.6394G>A (p.Asp2132Asn)
c.6322G>A (p.Asp2108Asn)
c.2515G>A
c.6349G>A (p.Asp2117Asn)
n.1821G>A
c.6421G>A (p.Asp2141Asn)
c.5473G>A (p.Asp1825Asn)
c.6649G>A (p.Asp2217Asn)
c.6538G>A (p.Asp2180Asn)
c.6460G>A (p.Asp2154Asn)
c.6112G>A (p.Asp2038Asn)
c.5737G>A (p.Asp1913Asn)
c.6544G>A (p.Asp2182Asn)
c.6646G>A (p.Asp2216Asn)
c.6622G>A (p.Asp2208Asn)
c.6589G>A (p.Asp2197Asn)
c.6565G>A (p.Asp2189Asn)
c.6520G>A (p.Asp2174Asn)
3g.53811314G>CCA353259470CACNA1Dc.6454G>C (p.Asp2152His)
n.1783G>C
n.3393G>C
n.1829G>C
c.6394G>C (p.Asp2132His)
c.6322G>C (p.Asp2108His)
c.2515G>C
c.6349G>C (p.Asp2117His)
n.1821G>C
c.6421G>C (p.Asp2141His)
c.5473G>C (p.Asp1825His)
c.6649G>C (p.Asp2217His)
c.6538G>C (p.Asp2180His)
c.6460G>C (p.Asp2154His)
c.6112G>C (p.Asp2038His)
c.5737G>C (p.Asp1913His)
c.6544G>C (p.Asp2182His)
c.6646G>C (p.Asp2216His)
c.6622G>C (p.Asp2208His)
c.6589G>C (p.Asp2197His)
c.6565G>C (p.Asp2189His)
c.6520G>C (p.Asp2174His)
3g.53811314G>TCA353259472CACNA1Dc.6454G>T (p.Asp2152Tyr)
n.1783G>T
n.3393G>T
n.1829G>T
c.6394G>T (p.Asp2132Tyr)
c.6322G>T (p.Asp2108Tyr)
c.2515G>T
c.6349G>T (p.Asp2117Tyr)
n.1821G>T
c.6421G>T (p.Asp2141Tyr)
c.5473G>T (p.Asp1825Tyr)
c.6649G>T (p.Asp2217Tyr)
c.6538G>T (p.Asp2180Tyr)
c.6460G>T (p.Asp2154Tyr)
c.6112G>T (p.Asp2038Tyr)
c.5737G>T (p.Asp1913Tyr)
c.6544G>T (p.Asp2182Tyr)
c.6646G>T (p.Asp2216Tyr)
c.6622G>T (p.Asp2208Tyr)
c.6589G>T (p.Asp2197Tyr)
c.6565G>T (p.Asp2189Tyr)
c.6520G>T (p.Asp2174Tyr)
3g.53811315A=CA1365489036CACNA1Dc.6455A= (p.Asp2152=)
n.1784A=
n.3394A=
n.1830A=
c.6395A= (p.Asp2132=)
c.6323A= (p.Asp2108=)
c.2516A=
c.6350A= (p.Asp2117=)
n.1822A=
c.6422A= (p.Asp2141=)
c.5474A= (p.Asp1825=)
c.6650A= (p.Asp2217=)
c.6539A= (p.Asp2180=)
c.6461A= (p.Asp2154=)
c.6113A= (p.Asp2038=)
c.5738A= (p.Asp1913=)
c.6545A= (p.Asp2182=)
c.6647A= (p.Asp2216=)
c.6623A= (p.Asp2208=)
c.6590A= (p.Asp2197=)
c.6566A= (p.Asp2189=)
c.6521A= (p.Asp2174=)
3g.53811315A>CCA353259477CACNA1Dc.6455A>C (p.Asp2152Ala)
n.1784A>C
n.3394A>C
n.1830A>C
c.6395A>C (p.Asp2132Ala)
c.6323A>C (p.Asp2108Ala)
c.2516A>C
c.6350A>C (p.Asp2117Ala)
n.1822A>C
c.6422A>C (p.Asp2141Ala)
c.5474A>C (p.Asp1825Ala)
c.6650A>C (p.Asp2217Ala)
c.6539A>C (p.Asp2180Ala)
c.6461A>C (p.Asp2154Ala)
c.6113A>C (p.Asp2038Ala)
c.5738A>C (p.Asp1913Ala)
c.6545A>C (p.Asp2182Ala)
c.6647A>C (p.Asp2216Ala)
c.6623A>C (p.Asp2208Ala)
c.6590A>C (p.Asp2197Ala)
c.6566A>C (p.Asp2189Ala)
c.6521A>C (p.Asp2174Ala)
 dbSNP
3g.53811315A>GCA2455443CACNA1Dc.6455A>G (p.Asp2152Gly)
n.1784A>G
n.3394A>G
n.1830A>G
c.6395A>G (p.Asp2132Gly)
c.6323A>G (p.Asp2108Gly)
c.2516A>G
c.6350A>G (p.Asp2117Gly)
n.1822A>G
c.6422A>G (p.Asp2141Gly)
c.5474A>G (p.Asp1825Gly)
c.6650A>G (p.Asp2217Gly)
c.6539A>G (p.Asp2180Gly)
c.6461A>G (p.Asp2154Gly)
c.6113A>G (p.Asp2038Gly)
c.5738A>G (p.Asp1913Gly)
c.6545A>G (p.Asp2182Gly)
c.6647A>G (p.Asp2216Gly)
c.6623A>G (p.Asp2208Gly)
c.6590A>G (p.Asp2197Gly)
c.6566A>G (p.Asp2189Gly)
c.6521A>G (p.Asp2174Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811315A>TCA353259479CACNA1Dc.6455A>T (p.Asp2152Val)
n.1784A>T
n.3394A>T
n.1830A>T
c.6395A>T (p.Asp2132Val)
c.6323A>T (p.Asp2108Val)
c.2516A>T
c.6350A>T (p.Asp2117Val)
n.1822A>T
c.6422A>T (p.Asp2141Val)
c.5474A>T (p.Asp1825Val)
c.6650A>T (p.Asp2217Val)
c.6539A>T (p.Asp2180Val)
c.6461A>T (p.Asp2154Val)
c.6113A>T (p.Asp2038Val)
c.5738A>T (p.Asp1913Val)
c.6545A>T (p.Asp2182Val)
c.6647A>T (p.Asp2216Val)
c.6623A>T (p.Asp2208Val)
c.6590A>T (p.Asp2197Val)
c.6566A>T (p.Asp2189Val)
c.6521A>T (p.Asp2174Val)
3g.53811316C>ACA353259484CACNA1Dc.6456C>A (p.Asp2152Glu)
n.1785C>A
n.3395C>A
n.1831C>A
c.6396C>A (p.Asp2132Glu)
c.6324C>A (p.Asp2108Glu)
c.2517C>A
c.6351C>A (p.Asp2117Glu)
n.1823C>A
c.6423C>A (p.Asp2141Glu)
c.5475C>A (p.Asp1825Glu)
c.6651C>A (p.Asp2217Glu)
c.6540C>A (p.Asp2180Glu)
c.6462C>A (p.Asp2154Glu)
c.6114C>A (p.Asp2038Glu)
c.5739C>A (p.Asp1913Glu)
c.6546C>A (p.Asp2182Glu)
c.6648C>A (p.Asp2216Glu)
c.6624C>A (p.Asp2208Glu)
c.6591C>A (p.Asp2197Glu)
c.6567C>A (p.Asp2189Glu)
c.6522C>A (p.Asp2174Glu)
3g.53811316C=CA1365489037CACNA1Dc.6456C= (p.Asp2152=)
n.1785C=
n.3395C=
n.1831C=
c.6396C= (p.Asp2132=)
c.6324C= (p.Asp2108=)
c.2517C=
c.6351C= (p.Asp2117=)
n.1823C=
c.6423C= (p.Asp2141=)
c.5475C= (p.Asp1825=)
c.6651C= (p.Asp2217=)
c.6540C= (p.Asp2180=)
c.6462C= (p.Asp2154=)
c.6114C= (p.Asp2038=)
c.5739C= (p.Asp1913=)
c.6546C= (p.Asp2182=)
c.6648C= (p.Asp2216=)
c.6624C= (p.Asp2208=)
c.6591C= (p.Asp2197=)
c.6567C= (p.Asp2189=)
c.6522C= (p.Asp2174=)
3g.53811316C>GCA353259486CACNA1Dc.6456C>G (p.Asp2152Glu)
n.1785C>G
n.3395C>G
n.1831C>G
c.6396C>G (p.Asp2132Glu)
c.6324C>G (p.Asp2108Glu)
c.2517C>G
c.6351C>G (p.Asp2117Glu)
n.1823C>G
c.6423C>G (p.Asp2141Glu)
c.5475C>G (p.Asp1825Glu)
c.6651C>G (p.Asp2217Glu)
c.6540C>G (p.Asp2180Glu)
c.6462C>G (p.Asp2154Glu)
c.6114C>G (p.Asp2038Glu)
c.5739C>G (p.Asp1913Glu)
c.6546C>G (p.Asp2182Glu)
c.6648C>G (p.Asp2216Glu)
c.6624C>G (p.Asp2208Glu)
c.6591C>G (p.Asp2197Glu)
c.6567C>G (p.Asp2189Glu)
c.6522C>G (p.Asp2174Glu)
3g.53811316C>TCA433896108CACNA1Dc.6456C>T (p.Asp2152=)
n.1785C>T
n.3395C>T
n.1831C>T
c.6396C>T (p.Asp2132=)
c.6324C>T (p.Asp2108=)
c.2517C>T
c.6351C>T (p.Asp2117=)
n.1823C>T
c.6423C>T (p.Asp2141=)
c.5475C>T (p.Asp1825=)
c.6651C>T (p.Asp2217=)
c.6540C>T (p.Asp2180=)
c.6462C>T (p.Asp2154=)
c.6114C>T (p.Asp2038=)
c.5739C>T (p.Asp1913=)
c.6546C>T (p.Asp2182=)
c.6648C>T (p.Asp2216=)
c.6624C>T (p.Asp2208=)
c.6591C>T (p.Asp2197=)
c.6567C>T (p.Asp2189=)
c.6522C>T (p.Asp2174=)
 COSMIC COSMIC
3g.53811317T>ACA353259490CACNA1Dc.6457T>A (p.Phe2153Ile)
n.1786T>A
n.3396T>A
n.1832T>A
c.6397T>A (p.Phe2133Ile)
c.6325T>A (p.Phe2109Ile)
c.2518T>A
c.6352T>A (p.Phe2118Ile)
n.1824T>A
c.6424T>A (p.Phe2142Ile)
c.5476T>A (p.Phe1826Ile)
c.6652T>A (p.Phe2218Ile)
c.6541T>A (p.Phe2181Ile)
c.6463T>A (p.Phe2155Ile)
c.6115T>A (p.Phe2039Ile)
c.5740T>A (p.Phe1914Ile)
c.6547T>A (p.Phe2183Ile)
c.6649T>A (p.Phe2217Ile)
c.6625T>A (p.Phe2209Ile)
c.6592T>A (p.Phe2198Ile)
c.6568T>A (p.Phe2190Ile)
c.6523T>A (p.Phe2175Ile)
3g.53811317T>CCA353259492CACNA1Dc.6457T>C (p.Phe2153Leu)
n.1786T>C
n.3396T>C
n.1832T>C
c.6397T>C (p.Phe2133Leu)
c.6325T>C (p.Phe2109Leu)
c.2518T>C
c.6352T>C (p.Phe2118Leu)
n.1824T>C
c.6424T>C (p.Phe2142Leu)
c.5476T>C (p.Phe1826Leu)
c.6652T>C (p.Phe2218Leu)
c.6541T>C (p.Phe2181Leu)
c.6463T>C (p.Phe2155Leu)
c.6115T>C (p.Phe2039Leu)
c.5740T>C (p.Phe1914Leu)
c.6547T>C (p.Phe2183Leu)
c.6649T>C (p.Phe2217Leu)
c.6625T>C (p.Phe2209Leu)
c.6592T>C (p.Phe2198Leu)
c.6568T>C (p.Phe2190Leu)
c.6523T>C (p.Phe2175Leu)
3g.53811317T>GCA353259495CACNA1Dc.6457T>G (p.Phe2153Val)
n.1786T>G
n.3396T>G
n.1832T>G
c.6397T>G (p.Phe2133Val)
c.6325T>G (p.Phe2109Val)
c.2518T>G
c.6352T>G (p.Phe2118Val)
n.1824T>G
c.6424T>G (p.Phe2142Val)
c.5476T>G (p.Phe1826Val)
c.6652T>G (p.Phe2218Val)
c.6541T>G (p.Phe2181Val)
c.6463T>G (p.Phe2155Val)
c.6115T>G (p.Phe2039Val)
c.5740T>G (p.Phe1914Val)
c.6547T>G (p.Phe2183Val)
c.6649T>G (p.Phe2217Val)
c.6625T>G (p.Phe2209Val)
c.6592T>G (p.Phe2198Val)
c.6568T>G (p.Phe2190Val)
c.6523T>G (p.Phe2175Val)
3g.53811319dupCA74870233CACNA1Dc.6459dup (p.Gly2154TrpfsTer15)
n.1788dup
n.3398dup
n.1834dup
c.6399dup (p.Gly2134TrpfsTer15)
c.6327dup (p.Gly2110TrpfsTer15)
c.2520dup
c.6354dup (p.Gly2119TrpfsTer15)
n.1826dup
c.6426dup (p.Gly2143TrpfsTer15)
c.5478dup (p.Gly1827TrpfsTer15)
c.6654dup (p.Gly2219TrpfsTer15)
c.6543dup (p.Gly2182TrpfsTer15)
c.6465dup (p.Gly2156TrpfsTer15)
c.6117dup (p.Gly2040TrpfsTer15)
c.5742dup (p.Gly1915TrpfsTer15)
c.6549dup (p.Gly2184TrpfsTer15)
c.6651dup (p.Gly2218TrpfsTer15)
c.6627dup (p.Gly2210TrpfsTer15)
c.6594dup (p.Gly2199TrpfsTer15)
c.6570dup (p.Gly2191TrpfsTer15)
c.6525dup (p.Gly2176TrpfsTer15)
 dbSNP
3g.53811318T>ACA353259499CACNA1Dc.6458T>A (p.Phe2153Tyr)
n.1787T>A
n.3397T>A
n.1833T>A
c.6398T>A (p.Phe2133Tyr)
c.6326T>A (p.Phe2109Tyr)
c.2519T>A
c.6353T>A (p.Phe2118Tyr)
n.1825T>A
c.6425T>A (p.Phe2142Tyr)
c.5477T>A (p.Phe1826Tyr)
c.6653T>A (p.Phe2218Tyr)
c.6542T>A (p.Phe2181Tyr)
c.6464T>A (p.Phe2155Tyr)
c.6116T>A (p.Phe2039Tyr)
c.5741T>A (p.Phe1914Tyr)
c.6548T>A (p.Phe2183Tyr)
c.6650T>A (p.Phe2217Tyr)
c.6626T>A (p.Phe2209Tyr)
c.6593T>A (p.Phe2198Tyr)
c.6569T>A (p.Phe2190Tyr)
c.6524T>A (p.Phe2175Tyr)
3g.53811318T>CCA353259501CACNA1Dc.6458T>C (p.Phe2153Ser)
n.1787T>C
n.3397T>C
n.1833T>C
c.6398T>C (p.Phe2133Ser)
c.6326T>C (p.Phe2109Ser)
c.2519T>C
c.6353T>C (p.Phe2118Ser)
n.1825T>C
c.6425T>C (p.Phe2142Ser)
c.5477T>C (p.Phe1826Ser)
c.6653T>C (p.Phe2218Ser)
c.6542T>C (p.Phe2181Ser)
c.6464T>C (p.Phe2155Ser)
c.6116T>C (p.Phe2039Ser)
c.5741T>C (p.Phe1914Ser)
c.6548T>C (p.Phe2183Ser)
c.6650T>C (p.Phe2217Ser)
c.6626T>C (p.Phe2209Ser)
c.6593T>C (p.Phe2198Ser)
c.6569T>C (p.Phe2190Ser)
c.6524T>C (p.Phe2175Ser)
3g.53811318T>GCA353259497CACNA1Dc.6458T>G (p.Phe2153Cys)
n.1787T>G
n.3397T>G
n.1833T>G
c.6398T>G (p.Phe2133Cys)
c.6326T>G (p.Phe2109Cys)
c.2519T>G
c.6353T>G (p.Phe2118Cys)
n.1825T>G
c.6425T>G (p.Phe2142Cys)
c.5477T>G (p.Phe1826Cys)
c.6653T>G (p.Phe2218Cys)
c.6542T>G (p.Phe2181Cys)
c.6464T>G (p.Phe2155Cys)
c.6116T>G (p.Phe2039Cys)
c.5741T>G (p.Phe1914Cys)
c.6548T>G (p.Phe2183Cys)
c.6650T>G (p.Phe2217Cys)
c.6626T>G (p.Phe2209Cys)
c.6593T>G (p.Phe2198Cys)
c.6569T>G (p.Phe2190Cys)
c.6524T>G (p.Phe2175Cys)
3g.53811319T>ACA353259504CACNA1Dc.6459T>A (p.Phe2153Leu)
n.1788T>A
n.3398T>A
n.1834T>A
c.6399T>A (p.Phe2133Leu)
c.6327T>A (p.Phe2109Leu)
c.2520T>A
c.6354T>A (p.Phe2118Leu)
n.1826T>A
c.6426T>A (p.Phe2142Leu)
c.5478T>A (p.Phe1826Leu)
c.6654T>A (p.Phe2218Leu)
c.6543T>A (p.Phe2181Leu)
c.6465T>A (p.Phe2155Leu)
c.6117T>A (p.Phe2039Leu)
c.5742T>A (p.Phe1914Leu)
c.6549T>A (p.Phe2183Leu)
c.6651T>A (p.Phe2217Leu)
c.6627T>A (p.Phe2209Leu)
c.6594T>A (p.Phe2198Leu)
c.6570T>A (p.Phe2190Leu)
c.6525T>A (p.Phe2175Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.53811319T>CCA433896111CACNA1Dc.6459T>C (p.Phe2153=)
n.1788T>C
n.3398T>C
n.1834T>C
c.6399T>C (p.Phe2133=)
c.6327T>C (p.Phe2109=)
c.2520T>C
c.6354T>C (p.Phe2118=)
n.1826T>C
c.6426T>C (p.Phe2142=)
c.5478T>C (p.Phe1826=)
c.6654T>C (p.Phe2218=)
c.6543T>C (p.Phe2181=)
c.6465T>C (p.Phe2155=)
c.6117T>C (p.Phe2039=)
c.5742T>C (p.Phe1914=)
c.6549T>C (p.Phe2183=)
c.6651T>C (p.Phe2217=)
c.6627T>C (p.Phe2209=)
c.6594T>C (p.Phe2198=)
c.6570T>C (p.Phe2190=)
c.6525T>C (p.Phe2175=)
 gnomAD v4
3g.53811319T>GCA353259505CACNA1Dc.6459T>G (p.Phe2153Leu)
n.1788T>G
n.3398T>G
n.1834T>G
c.6399T>G (p.Phe2133Leu)
c.6327T>G (p.Phe2109Leu)
c.2520T>G
c.6354T>G (p.Phe2118Leu)
n.1826T>G
c.6426T>G (p.Phe2142Leu)
c.5478T>G (p.Phe1826Leu)
c.6654T>G (p.Phe2218Leu)
c.6543T>G (p.Phe2181Leu)
c.6465T>G (p.Phe2155Leu)
c.6117T>G (p.Phe2039Leu)
c.5742T>G (p.Phe1914Leu)
c.6549T>G (p.Phe2183Leu)
c.6651T>G (p.Phe2217Leu)
c.6627T>G (p.Phe2209Leu)
c.6594T>G (p.Phe2198Leu)
c.6570T>G (p.Phe2190Leu)
c.6525T>G (p.Phe2175Leu)
3g.53811319T=CA1365489038CACNA1Dc.6459T= (p.Phe2153=)
n.1788T=
n.3398T=
n.1834T=
c.6399T= (p.Phe2133=)
c.6327T= (p.Phe2109=)
c.2520T=
c.6354T= (p.Phe2118=)
n.1826T=
c.6426T= (p.Phe2142=)
c.5478T= (p.Phe1826=)
c.6654T= (p.Phe2218=)
c.6543T= (p.Phe2181=)
c.6465T= (p.Phe2155=)
c.6117T= (p.Phe2039=)
c.5742T= (p.Phe1914=)
c.6549T= (p.Phe2183=)
c.6651T= (p.Phe2217=)
c.6627T= (p.Phe2209=)
c.6594T= (p.Phe2198=)
c.6570T= (p.Phe2190=)
c.6525T= (p.Phe2175=)
3g.53811320G>ACA353259508CACNA1Dc.6460G>A (p.Gly2154Ser)
n.1789G>A
n.3399G>A
n.1835G>A
c.6400G>A (p.Gly2134Ser)
c.6328G>A (p.Gly2110Ser)
c.2521G>A
c.6355G>A (p.Gly2119Ser)
n.1827G>A
c.6427G>A (p.Gly2143Ser)
c.5479G>A (p.Gly1827Ser)
c.6655G>A (p.Gly2219Ser)
c.6544G>A (p.Gly2182Ser)
c.6466G>A (p.Gly2156Ser)
c.6118G>A (p.Gly2040Ser)
c.5743G>A (p.Gly1915Ser)
c.6550G>A (p.Gly2184Ser)
c.6652G>A (p.Gly2218Ser)
c.6628G>A (p.Gly2210Ser)
c.6595G>A (p.Gly2199Ser)
c.6571G>A (p.Gly2191Ser)
c.6526G>A (p.Gly2176Ser)
3g.53811320G>CCA353259510CACNA1Dc.6460G>C (p.Gly2154Arg)
n.1789G>C
n.3399G>C
n.1835G>C
c.6400G>C (p.Gly2134Arg)
c.6328G>C (p.Gly2110Arg)
c.2521G>C
c.6355G>C (p.Gly2119Arg)
n.1827G>C
c.6427G>C (p.Gly2143Arg)
c.5479G>C (p.Gly1827Arg)
c.6655G>C (p.Gly2219Arg)
c.6544G>C (p.Gly2182Arg)
c.6466G>C (p.Gly2156Arg)
c.6118G>C (p.Gly2040Arg)
c.5743G>C (p.Gly1915Arg)
c.6550G>C (p.Gly2184Arg)
c.6652G>C (p.Gly2218Arg)
c.6628G>C (p.Gly2210Arg)
c.6595G>C (p.Gly2199Arg)
c.6571G>C (p.Gly2191Arg)
c.6526G>C (p.Gly2176Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.53811320G=CA1365489039CACNA1Dc.6460G= (p.Gly2154=)
n.1789G=
n.3399G=
n.1835G=
c.6400G= (p.Gly2134=)
c.6328G= (p.Gly2110=)
c.2521G=
c.6355G= (p.Gly2119=)
n.1827G=
c.6427G= (p.Gly2143=)
c.5479G= (p.Gly1827=)
c.6655G= (p.Gly2219=)
c.6544G= (p.Gly2182=)
c.6466G= (p.Gly2156=)
c.6118G= (p.Gly2040=)
c.5743G= (p.Gly1915=)
c.6550G= (p.Gly2184=)
c.6652G= (p.Gly2218=)
c.6628G= (p.Gly2210=)
c.6595G= (p.Gly2199=)
c.6571G= (p.Gly2191=)
c.6526G= (p.Gly2176=)
3g.53811320G>TCA353259512CACNA1Dc.6460G>T (p.Gly2154Cys)
n.1789G>T
n.3399G>T
n.1835G>T
c.6400G>T (p.Gly2134Cys)
c.6328G>T (p.Gly2110Cys)
c.2521G>T
c.6355G>T (p.Gly2119Cys)
n.1827G>T
c.6427G>T (p.Gly2143Cys)
c.5479G>T (p.Gly1827Cys)
c.6655G>T (p.Gly2219Cys)
c.6544G>T (p.Gly2182Cys)
c.6466G>T (p.Gly2156Cys)
c.6118G>T (p.Gly2040Cys)
c.5743G>T (p.Gly1915Cys)
c.6550G>T (p.Gly2184Cys)
c.6652G>T (p.Gly2218Cys)
c.6628G>T (p.Gly2210Cys)
c.6595G>T (p.Gly2199Cys)
c.6571G>T (p.Gly2191Cys)
c.6526G>T (p.Gly2176Cys)
3g.53811321G>ACA353259516CACNA1Dc.6461G>A (p.Gly2154Asp)
n.1790G>A
n.3400G>A
n.1836G>A
c.6401G>A (p.Gly2134Asp)
c.6329G>A (p.Gly2110Asp)
c.2522G>A
c.6356G>A (p.Gly2119Asp)
n.1828G>A
c.6428G>A (p.Gly2143Asp)
c.5480G>A (p.Gly1827Asp)
c.6656G>A (p.Gly2219Asp)
c.6545G>A (p.Gly2182Asp)
c.6467G>A (p.Gly2156Asp)
c.6119G>A (p.Gly2040Asp)
c.5744G>A (p.Gly1915Asp)
c.6551G>A (p.Gly2184Asp)
c.6653G>A (p.Gly2218Asp)
c.6629G>A (p.Gly2210Asp)
c.6596G>A (p.Gly2199Asp)
c.6572G>A (p.Gly2191Asp)
c.6527G>A (p.Gly2176Asp)
3g.53811321G>CCA353259518CACNA1Dc.6461G>C (p.Gly2154Ala)
n.1790G>C
n.3400G>C
n.1836G>C
c.6401G>C (p.Gly2134Ala)
c.6329G>C (p.Gly2110Ala)
c.2522G>C
c.6356G>C (p.Gly2119Ala)
n.1828G>C
c.6428G>C (p.Gly2143Ala)
c.5480G>C (p.Gly1827Ala)
c.6656G>C (p.Gly2219Ala)
c.6545G>C (p.Gly2182Ala)
c.6467G>C (p.Gly2156Ala)
c.6119G>C (p.Gly2040Ala)
c.5744G>C (p.Gly1915Ala)
c.6551G>C (p.Gly2184Ala)
c.6653G>C (p.Gly2218Ala)
c.6629G>C (p.Gly2210Ala)
c.6596G>C (p.Gly2199Ala)
c.6572G>C (p.Gly2191Ala)
c.6527G>C (p.Gly2176Ala)
3g.53811321G>TCA353259520CACNA1Dc.6461G>T (p.Gly2154Val)
n.1790G>T
n.3400G>T
n.1836G>T
c.6401G>T (p.Gly2134Val)
c.6329G>T (p.Gly2110Val)
c.2522G>T
c.6356G>T (p.Gly2119Val)
n.1828G>T
c.6428G>T (p.Gly2143Val)
c.5480G>T (p.Gly1827Val)
c.6656G>T (p.Gly2219Val)
c.6545G>T (p.Gly2182Val)
c.6467G>T (p.Gly2156Val)
c.6119G>T (p.Gly2040Val)
c.5744G>T (p.Gly1915Val)
c.6551G>T (p.Gly2184Val)
c.6653G>T (p.Gly2218Val)
c.6629G>T (p.Gly2210Val)
c.6596G>T (p.Gly2199Val)
c.6572G>T (p.Gly2191Val)
c.6527G>T (p.Gly2176Val)
3g.53811322T>ACA433896114CACNA1Dc.6462T>A (p.Gly2154=)
n.1791T>A
n.3401T>A
n.1837T>A
c.6402T>A (p.Gly2134=)
c.6330T>A (p.Gly2110=)
c.2523T>A
c.6357T>A (p.Gly2119=)
n.1829T>A
c.6429T>A (p.Gly2143=)
c.5481T>A (p.Gly1827=)
c.6657T>A (p.Gly2219=)
c.6546T>A (p.Gly2182=)
c.6468T>A (p.Gly2156=)
c.6120T>A (p.Gly2040=)
c.5745T>A (p.Gly1915=)
c.6552T>A (p.Gly2184=)
c.6654T>A (p.Gly2218=)
c.6630T>A (p.Gly2210=)
c.6597T>A (p.Gly2199=)
c.6573T>A (p.Gly2191=)
c.6528T>A (p.Gly2176=)
3g.53811322T>CCA433896115CACNA1Dc.6462T>C (p.Gly2154=)
n.1791T>C
n.3401T>C
n.1837T>C
c.6402T>C (p.Gly2134=)
c.6330T>C (p.Gly2110=)
c.2523T>C
c.6357T>C (p.Gly2119=)
n.1829T>C
c.6429T>C (p.Gly2143=)
c.5481T>C (p.Gly1827=)
c.6657T>C (p.Gly2219=)
c.6546T>C (p.Gly2182=)
c.6468T>C (p.Gly2156=)
c.6120T>C (p.Gly2040=)
c.5745T>C (p.Gly1915=)
c.6552T>C (p.Gly2184=)
c.6654T>C (p.Gly2218=)
c.6630T>C (p.Gly2210=)
c.6597T>C (p.Gly2199=)
c.6573T>C (p.Gly2191=)
c.6528T>C (p.Gly2176=)
3g.53811322T>GCA433896116CACNA1Dc.6462T>G (p.Gly2154=)
n.1791T>G
n.3401T>G
n.1837T>G
c.6402T>G (p.Gly2134=)
c.6330T>G (p.Gly2110=)
c.2523T>G
c.6357T>G (p.Gly2119=)
n.1829T>G
c.6429T>G (p.Gly2143=)
c.5481T>G (p.Gly1827=)
c.6657T>G (p.Gly2219=)
c.6546T>G (p.Gly2182=)
c.6468T>G (p.Gly2156=)
c.6120T>G (p.Gly2040=)
c.5745T>G (p.Gly1915=)
c.6552T>G (p.Gly2184=)
c.6654T>G (p.Gly2218=)
c.6630T>G (p.Gly2210=)
c.6597T>G (p.Gly2199=)
c.6573T>G (p.Gly2191=)
c.6528T>G (p.Gly2176=)
3g.53811323C>ACA353259523CACNA1Dc.6463C>A (p.Pro2155Thr)
n.1792C>A
n.3402C>A
n.1838C>A
c.6403C>A (p.Pro2135Thr)
c.6331C>A (p.Pro2111Thr)
c.2524C>A
c.6358C>A (p.Pro2120Thr)
n.1830C>A
c.6430C>A (p.Pro2144Thr)
c.5482C>A (p.Pro1828Thr)
c.6658C>A (p.Pro2220Thr)
c.6547C>A (p.Pro2183Thr)
c.6469C>A (p.Pro2157Thr)
c.6121C>A (p.Pro2041Thr)
c.5746C>A (p.Pro1916Thr)
c.6553C>A (p.Pro2185Thr)
c.6655C>A (p.Pro2219Thr)
c.6631C>A (p.Pro2211Thr)
c.6598C>A (p.Pro2200Thr)
c.6574C>A (p.Pro2192Thr)
c.6529C>A (p.Pro2177Thr)
3g.53811323C>GCA353259525CACNA1Dc.6463C>G (p.Pro2155Ala)
n.1792C>G
n.3402C>G
n.1838C>G
c.6403C>G (p.Pro2135Ala)
c.6331C>G (p.Pro2111Ala)
c.2524C>G
c.6358C>G (p.Pro2120Ala)
n.1830C>G
c.6430C>G (p.Pro2144Ala)
c.5482C>G (p.Pro1828Ala)
c.6658C>G (p.Pro2220Ala)
c.6547C>G (p.Pro2183Ala)
c.6469C>G (p.Pro2157Ala)
c.6121C>G (p.Pro2041Ala)
c.5746C>G (p.Pro1916Ala)
c.6553C>G (p.Pro2185Ala)
c.6655C>G (p.Pro2219Ala)
c.6631C>G (p.Pro2211Ala)
c.6598C>G (p.Pro2200Ala)
c.6574C>G (p.Pro2192Ala)
c.6529C>G (p.Pro2177Ala)
3g.53811323C>TCA353259531CACNA1Dc.6463C>T (p.Pro2155Ser)
n.1792C>T
n.3402C>T
n.1838C>T
c.6403C>T (p.Pro2135Ser)
c.6331C>T (p.Pro2111Ser)
c.2524C>T
c.6358C>T (p.Pro2120Ser)
n.1830C>T
c.6430C>T (p.Pro2144Ser)
c.5482C>T (p.Pro1828Ser)
c.6658C>T (p.Pro2220Ser)
c.6547C>T (p.Pro2183Ser)
c.6469C>T (p.Pro2157Ser)
c.6121C>T (p.Pro2041Ser)
c.5746C>T (p.Pro1916Ser)
c.6553C>T (p.Pro2185Ser)
c.6655C>T (p.Pro2219Ser)
c.6631C>T (p.Pro2211Ser)
c.6598C>T (p.Pro2200Ser)
c.6574C>T (p.Pro2192Ser)
c.6529C>T (p.Pro2177Ser)
 gnomAD v4
3g.53811324C>ACA353259533CACNA1Dc.6464C>A (p.Pro2155His)
n.1793C>A
n.3403C>A
n.1839C>A
c.6404C>A (p.Pro2135His)
c.6332C>A (p.Pro2111His)
c.2525C>A
c.6359C>A (p.Pro2120His)
n.1831C>A
c.6431C>A (p.Pro2144His)
c.5483C>A (p.Pro1828His)
c.6659C>A (p.Pro2220His)
c.6548C>A (p.Pro2183His)
c.6470C>A (p.Pro2157His)
c.6122C>A (p.Pro2041His)
c.5747C>A (p.Pro1916His)
c.6554C>A (p.Pro2185His)
c.6656C>A (p.Pro2219His)
c.6632C>A (p.Pro2211His)
c.6599C>A (p.Pro2200His)
c.6575C>A (p.Pro2192His)
c.6530C>A (p.Pro2177His)
3g.53811324C>GCA353259536CACNA1Dc.6464C>G (p.Pro2155Arg)
n.1793C>G
n.3403C>G
n.1839C>G
c.6404C>G (p.Pro2135Arg)
c.6332C>G (p.Pro2111Arg)
c.2525C>G
c.6359C>G (p.Pro2120Arg)
n.1831C>G
c.6431C>G (p.Pro2144Arg)
c.5483C>G (p.Pro1828Arg)
c.6659C>G (p.Pro2220Arg)
c.6548C>G (p.Pro2183Arg)
c.6470C>G (p.Pro2157Arg)
c.6122C>G (p.Pro2041Arg)
c.5747C>G (p.Pro1916Arg)
c.6554C>G (p.Pro2185Arg)
c.6656C>G (p.Pro2219Arg)
c.6632C>G (p.Pro2211Arg)
c.6599C>G (p.Pro2200Arg)
c.6575C>G (p.Pro2192Arg)
c.6530C>G (p.Pro2177Arg)
3g.53811324C>TCA353259538CACNA1Dc.6464C>T (p.Pro2155Leu)
n.1793C>T
n.3403C>T
n.1839C>T
c.6404C>T (p.Pro2135Leu)
c.6332C>T (p.Pro2111Leu)
c.2525C>T
c.6359C>T (p.Pro2120Leu)
n.1831C>T
c.6431C>T (p.Pro2144Leu)
c.5483C>T (p.Pro1828Leu)
c.6659C>T (p.Pro2220Leu)
c.6548C>T (p.Pro2183Leu)
c.6470C>T (p.Pro2157Leu)
c.6122C>T (p.Pro2041Leu)
c.5747C>T (p.Pro1916Leu)
c.6554C>T (p.Pro2185Leu)
c.6656C>T (p.Pro2219Leu)
c.6632C>T (p.Pro2211Leu)
c.6599C>T (p.Pro2200Leu)
c.6575C>T (p.Pro2192Leu)
c.6530C>T (p.Pro2177Leu)
 gnomAD v4
3g.53811325T>ACA433896118CACNA1Dc.6465T>A (p.Pro2155=)
n.1794T>A
n.3404T>A
n.1840T>A
c.6405T>A (p.Pro2135=)
c.6333T>A (p.Pro2111=)
c.2526T>A
c.6360T>A (p.Pro2120=)
n.1832T>A
c.6432T>A (p.Pro2144=)
c.5484T>A (p.Pro1828=)
c.6660T>A (p.Pro2220=)
c.6549T>A (p.Pro2183=)
c.6471T>A (p.Pro2157=)
c.6123T>A (p.Pro2041=)
c.5748T>A (p.Pro1916=)
c.6555T>A (p.Pro2185=)
c.6657T>A (p.Pro2219=)
c.6633T>A (p.Pro2211=)
c.6600T>A (p.Pro2200=)
c.6576T>A (p.Pro2192=)
c.6531T>A (p.Pro2177=)
3g.53811325T>CCA433896119CACNA1Dc.6465T>C (p.Pro2155=)
n.1794T>C
n.3404T>C
n.1840T>C
c.6405T>C (p.Pro2135=)
c.6333T>C (p.Pro2111=)
c.2526T>C
c.6360T>C (p.Pro2120=)
n.1832T>C
c.6432T>C (p.Pro2144=)
c.5484T>C (p.Pro1828=)
c.6660T>C (p.Pro2220=)
c.6549T>C (p.Pro2183=)
c.6471T>C (p.Pro2157=)
c.6123T>C (p.Pro2041=)
c.5748T>C (p.Pro1916=)
c.6555T>C (p.Pro2185=)
c.6657T>C (p.Pro2219=)
c.6633T>C (p.Pro2211=)
c.6600T>C (p.Pro2200=)
c.6576T>C (p.Pro2192=)
c.6531T>C (p.Pro2177=)
 gnomAD v3 gnomAD v4
3g.53811325T>GCA433896120CACNA1Dc.6465T>G (p.Pro2155=)
n.1794T>G
n.3404T>G
n.1840T>G
c.6405T>G (p.Pro2135=)
c.6333T>G (p.Pro2111=)
c.2526T>G
c.6360T>G (p.Pro2120=)
n.1832T>G
c.6432T>G (p.Pro2144=)
c.5484T>G (p.Pro1828=)
c.6660T>G (p.Pro2220=)
c.6549T>G (p.Pro2183=)
c.6471T>G (p.Pro2157=)
c.6123T>G (p.Pro2041=)
c.5748T>G (p.Pro1916=)
c.6555T>G (p.Pro2185=)
c.6657T>G (p.Pro2219=)
c.6633T>G (p.Pro2211=)
c.6600T>G (p.Pro2200=)
c.6576T>G (p.Pro2192=)
c.6531T>G (p.Pro2177=)
3g.53811326G>ACA353259546CACNA1Dc.6466G>A (p.Gly2156Ser)
n.1795G>A
n.3405G>A
n.1841G>A
c.6406G>A (p.Gly2136Ser)
c.6334G>A (p.Gly2112Ser)
c.2527G>A
c.6361G>A (p.Gly2121Ser)
n.1833G>A
c.6433G>A (p.Gly2145Ser)
c.5485G>A (p.Gly1829Ser)
c.6661G>A (p.Gly2221Ser)
c.6550G>A (p.Gly2184Ser)
c.6472G>A (p.Gly2158Ser)
c.6124G>A (p.Gly2042Ser)
c.5749G>A (p.Gly1917Ser)
c.6556G>A (p.Gly2186Ser)
c.6658G>A (p.Gly2220Ser)
c.6634G>A (p.Gly2212Ser)
c.6601G>A (p.Gly2201Ser)
c.6577G>A (p.Gly2193Ser)
c.6532G>A (p.Gly2178Ser)
 dbSNP gnomAD v2 gnomAD v4
3g.53811326G>CCA353259541CACNA1Dc.6466G>C (p.Gly2156Arg)
n.1795G>C
n.3405G>C
n.1841G>C
c.6406G>C (p.Gly2136Arg)
c.6334G>C (p.Gly2112Arg)
c.2527G>C
c.6361G>C (p.Gly2121Arg)
n.1833G>C
c.6433G>C (p.Gly2145Arg)
c.5485G>C (p.Gly1829Arg)
c.6661G>C (p.Gly2221Arg)
c.6550G>C (p.Gly2184Arg)
c.6472G>C (p.Gly2158Arg)
c.6124G>C (p.Gly2042Arg)
c.5749G>C (p.Gly1917Arg)
c.6556G>C (p.Gly2186Arg)
c.6658G>C (p.Gly2220Arg)
c.6634G>C (p.Gly2212Arg)
c.6601G>C (p.Gly2201Arg)
c.6577G>C (p.Gly2193Arg)
c.6532G>C (p.Gly2178Arg)
3g.53811326G=CA1365489040CACNA1Dc.6466G= (p.Gly2156=)
n.1795G=
n.3405G=
n.1841G=
c.6406G= (p.Gly2136=)
c.6334G= (p.Gly2112=)
c.2527G=
c.6361G= (p.Gly2121=)
n.1833G=
c.6433G= (p.Gly2145=)
c.5485G= (p.Gly1829=)
c.6661G= (p.Gly2221=)
c.6550G= (p.Gly2184=)
c.6472G= (p.Gly2158=)
c.6124G= (p.Gly2042=)
c.5749G= (p.Gly1917=)
c.6556G= (p.Gly2186=)
c.6658G= (p.Gly2220=)
c.6634G= (p.Gly2212=)
c.6601G= (p.Gly2201=)
c.6577G= (p.Gly2193=)
c.6532G= (p.Gly2178=)
3g.53811326G>TCA353259544CACNA1Dc.6466G>T (p.Gly2156Cys)
n.1795G>T
n.3405G>T
n.1841G>T
c.6406G>T (p.Gly2136Cys)
c.6334G>T (p.Gly2112Cys)
c.2527G>T
c.6361G>T (p.Gly2121Cys)
n.1833G>T
c.6433G>T (p.Gly2145Cys)
c.5485G>T (p.Gly1829Cys)
c.6661G>T (p.Gly2221Cys)
c.6550G>T (p.Gly2184Cys)
c.6472G>T (p.Gly2158Cys)
c.6124G>T (p.Gly2042Cys)
c.5749G>T (p.Gly1917Cys)
c.6556G>T (p.Gly2186Cys)
c.6658G>T (p.Gly2220Cys)
c.6634G>T (p.Gly2212Cys)
c.6601G>T (p.Gly2201Cys)
c.6577G>T (p.Gly2193Cys)
c.6532G>T (p.Gly2178Cys)
3g.53811327G>ACA353259550CACNA1Dc.6467G>A (p.Gly2156Asp)
n.1796G>A
n.3406G>A
n.1842G>A
c.6407G>A (p.Gly2136Asp)
c.6335G>A (p.Gly2112Asp)
c.2528G>A
c.6362G>A (p.Gly2121Asp)
n.1834G>A
c.6434G>A (p.Gly2145Asp)
c.5486G>A (p.Gly1829Asp)
c.6662G>A (p.Gly2221Asp)
c.6551G>A (p.Gly2184Asp)
c.6473G>A (p.Gly2158Asp)
c.6125G>A (p.Gly2042Asp)
c.5750G>A (p.Gly1917Asp)
c.6557G>A (p.Gly2186Asp)
c.6659G>A (p.Gly2220Asp)
c.6635G>A (p.Gly2212Asp)
c.6602G>A (p.Gly2201Asp)
c.6578G>A (p.Gly2193Asp)
c.6533G>A (p.Gly2178Asp)
3g.53811327G>CCA353259552CACNA1Dc.6467G>C (p.Gly2156Ala)
n.1796G>C
n.3406G>C
n.1842G>C
c.6407G>C (p.Gly2136Ala)
c.6335G>C (p.Gly2112Ala)
c.2528G>C
c.6362G>C (p.Gly2121Ala)
n.1834G>C
c.6434G>C (p.Gly2145Ala)
c.5486G>C (p.Gly1829Ala)
c.6662G>C (p.Gly2221Ala)
c.6551G>C (p.Gly2184Ala)
c.6473G>C (p.Gly2158Ala)
c.6125G>C (p.Gly2042Ala)
c.5750G>C (p.Gly1917Ala)
c.6557G>C (p.Gly2186Ala)
c.6659G>C (p.Gly2220Ala)
c.6635G>C (p.Gly2212Ala)
c.6602G>C (p.Gly2201Ala)
c.6578G>C (p.Gly2193Ala)
c.6533G>C (p.Gly2178Ala)
3g.53811327G>TCA353259554CACNA1Dc.6467G>T (p.Gly2156Val)
n.1796G>T
n.3406G>T
n.1842G>T
c.6407G>T (p.Gly2136Val)
c.6335G>T (p.Gly2112Val)
c.2528G>T
c.6362G>T (p.Gly2121Val)
n.1834G>T
c.6434G>T (p.Gly2145Val)
c.5486G>T (p.Gly1829Val)
c.6662G>T (p.Gly2221Val)
c.6551G>T (p.Gly2184Val)
c.6473G>T (p.Gly2158Val)
c.6125G>T (p.Gly2042Val)
c.5750G>T (p.Gly1917Val)
c.6557G>T (p.Gly2186Val)
c.6659G>T (p.Gly2220Val)
c.6635G>T (p.Gly2212Val)
c.6602G>T (p.Gly2201Val)
c.6578G>T (p.Gly2193Val)
c.6533G>T (p.Gly2178Val)
3g.53811328C>ACA433896125CACNA1Dc.6468C>A (p.Gly2156=)
n.1797C>A
n.3407C>A
n.1843C>A
c.6408C>A (p.Gly2136=)
c.6336C>A (p.Gly2112=)
c.2529C>A
c.6363C>A (p.Gly2121=)
n.1835C>A
c.6435C>A (p.Gly2145=)
c.5487C>A (p.Gly1829=)
c.6663C>A (p.Gly2221=)
c.6552C>A (p.Gly2184=)
c.6474C>A (p.Gly2158=)
c.6126C>A (p.Gly2042=)
c.5751C>A (p.Gly1917=)
c.6558C>A (p.Gly2186=)
c.6660C>A (p.Gly2220=)
c.6636C>A (p.Gly2212=)
c.6603C>A (p.Gly2201=)
c.6579C>A (p.Gly2193=)
c.6534C>A (p.Gly2178=)
3g.53811328C>GCA433896127CACNA1Dc.6468C>G (p.Gly2156=)
n.1797C>G
n.3407C>G
n.1843C>G
c.6408C>G (p.Gly2136=)
c.6336C>G (p.Gly2112=)
c.2529C>G
c.6363C>G (p.Gly2121=)
n.1835C>G
c.6435C>G (p.Gly2145=)
c.5487C>G (p.Gly1829=)
c.6663C>G (p.Gly2221=)
c.6552C>G (p.Gly2184=)
c.6474C>G (p.Gly2158=)
c.6126C>G (p.Gly2042=)
c.5751C>G (p.Gly1917=)
c.6558C>G (p.Gly2186=)
c.6660C>G (p.Gly2220=)
c.6636C>G (p.Gly2212=)
c.6603C>G (p.Gly2201=)
c.6579C>G (p.Gly2193=)
c.6534C>G (p.Gly2178=)
3g.53811328C>TCA433896128CACNA1Dc.6468C>T (p.Gly2156=)
n.1797C>T
n.3407C>T
n.1843C>T
c.6408C>T (p.Gly2136=)
c.6336C>T (p.Gly2112=)
c.2529C>T
c.6363C>T (p.Gly2121=)
n.1835C>T
c.6435C>T (p.Gly2145=)
c.5487C>T (p.Gly1829=)
c.6663C>T (p.Gly2221=)
c.6552C>T (p.Gly2184=)
c.6474C>T (p.Gly2158=)
c.6126C>T (p.Gly2042=)
c.5751C>T (p.Gly1917=)
c.6558C>T (p.Gly2186=)
c.6660C>T (p.Gly2220=)
c.6636C>T (p.Gly2212=)
c.6603C>T (p.Gly2201=)
c.6579C>T (p.Gly2193=)
c.6534C>T (p.Gly2178=)
 gnomAD v4
3g.53811329T>ACA353259558CACNA1Dc.6469T>A (p.Tyr2157Asn)
n.1798T>A
n.3408T>A
n.1844T>A
c.6409T>A (p.Tyr2137Asn)
c.6337T>A (p.Tyr2113Asn)
c.2530T>A
c.6364T>A (p.Tyr2122Asn)
n.1836T>A
c.6436T>A (p.Tyr2146Asn)
c.5488T>A (p.Tyr1830Asn)
c.6664T>A (p.Tyr2222Asn)
c.6553T>A (p.Tyr2185Asn)
c.6475T>A (p.Tyr2159Asn)
c.6127T>A (p.Tyr2043Asn)
c.5752T>A (p.Tyr1918Asn)
c.6559T>A (p.Tyr2187Asn)
c.6661T>A (p.Tyr2221Asn)
c.6637T>A (p.Tyr2213Asn)
c.6604T>A (p.Tyr2202Asn)
c.6580T>A (p.Tyr2194Asn)
c.6535T>A (p.Tyr2179Asn)
3g.53811329T>CCA353259560CACNA1Dc.6469T>C (p.Tyr2157His)
n.1798T>C
n.3408T>C
n.1844T>C
c.6409T>C (p.Tyr2137His)
c.6337T>C (p.Tyr2113His)
c.2530T>C
c.6364T>C (p.Tyr2122His)
n.1836T>C
c.6436T>C (p.Tyr2146His)
c.5488T>C (p.Tyr1830His)
c.6664T>C (p.Tyr2222His)
c.6553T>C (p.Tyr2185His)
c.6475T>C (p.Tyr2159His)
c.6127T>C (p.Tyr2043His)
c.5752T>C (p.Tyr1918His)
c.6559T>C (p.Tyr2187His)
c.6661T>C (p.Tyr2221His)
c.6637T>C (p.Tyr2213His)
c.6604T>C (p.Tyr2202His)
c.6580T>C (p.Tyr2194His)
c.6535T>C (p.Tyr2179His)
3g.53811329T>GCA353259561CACNA1Dc.6469T>G (p.Tyr2157Asp)
n.1798T>G
n.3408T>G
n.1844T>G
c.6409T>G (p.Tyr2137Asp)
c.6337T>G (p.Tyr2113Asp)
c.2530T>G
c.6364T>G (p.Tyr2122Asp)
n.1836T>G
c.6436T>G (p.Tyr2146Asp)
c.5488T>G (p.Tyr1830Asp)
c.6664T>G (p.Tyr2222Asp)
c.6553T>G (p.Tyr2185Asp)
c.6475T>G (p.Tyr2159Asp)
c.6127T>G (p.Tyr2043Asp)
c.5752T>G (p.Tyr1918Asp)
c.6559T>G (p.Tyr2187Asp)
c.6661T>G (p.Tyr2221Asp)
c.6637T>G (p.Tyr2213Asp)
c.6604T>G (p.Tyr2202Asp)
c.6580T>G (p.Tyr2194Asp)
c.6535T>G (p.Tyr2179Asp)
3g.53811330A>CCA353259564CACNA1Dc.6470A>C (p.Tyr2157Ser)
n.1799A>C
n.3409A>C
n.1845A>C
c.6410A>C (p.Tyr2137Ser)
c.6338A>C (p.Tyr2113Ser)
c.2531A>C
c.6365A>C (p.Tyr2122Ser)
n.1837A>C
c.6437A>C (p.Tyr2146Ser)
c.5489A>C (p.Tyr1830Ser)
c.6665A>C (p.Tyr2222Ser)
c.6554A>C (p.Tyr2185Ser)
c.6476A>C (p.Tyr2159Ser)
c.6128A>C (p.Tyr2043Ser)
c.5753A>C (p.Tyr1918Ser)
c.6560A>C (p.Tyr2187Ser)
c.6662A>C (p.Tyr2221Ser)
c.6638A>C (p.Tyr2213Ser)
c.6605A>C (p.Tyr2202Ser)
c.6581A>C (p.Tyr2194Ser)
c.6536A>C (p.Tyr2179Ser)
3g.53811330A>GCA353259566CACNA1Dc.6470A>G (p.Tyr2157Cys)
n.1799A>G
n.3409A>G
n.1845A>G
c.6410A>G (p.Tyr2137Cys)
c.6338A>G (p.Tyr2113Cys)
c.2531A>G
c.6365A>G (p.Tyr2122Cys)
n.1837A>G
c.6437A>G (p.Tyr2146Cys)
c.5489A>G (p.Tyr1830Cys)
c.6665A>G (p.Tyr2222Cys)
c.6554A>G (p.Tyr2185Cys)
c.6476A>G (p.Tyr2159Cys)
c.6128A>G (p.Tyr2043Cys)
c.5753A>G (p.Tyr1918Cys)
c.6560A>G (p.Tyr2187Cys)
c.6662A>G (p.Tyr2221Cys)
c.6638A>G (p.Tyr2213Cys)
c.6605A>G (p.Tyr2202Cys)
c.6581A>G (p.Tyr2194Cys)
c.6536A>G (p.Tyr2179Cys)
 gnomAD v4
3g.53811330A>TCA353259568CACNA1Dc.6470A>T (p.Tyr2157Phe)
n.1799A>T
n.3409A>T
n.1845A>T
c.6410A>T (p.Tyr2137Phe)
c.6338A>T (p.Tyr2113Phe)
c.2531A>T
c.6365A>T (p.Tyr2122Phe)
n.1837A>T
c.6437A>T (p.Tyr2146Phe)
c.5489A>T (p.Tyr1830Phe)
c.6665A>T (p.Tyr2222Phe)
c.6554A>T (p.Tyr2185Phe)
c.6476A>T (p.Tyr2159Phe)
c.6128A>T (p.Tyr2043Phe)
c.5753A>T (p.Tyr1918Phe)
c.6560A>T (p.Tyr2187Phe)
c.6662A>T (p.Tyr2221Phe)
c.6638A>T (p.Tyr2213Phe)
c.6605A>T (p.Tyr2202Phe)
c.6581A>T (p.Tyr2194Phe)
c.6536A>T (p.Tyr2179Phe)
3g.53811331C>ACA353259571CACNA1Dc.6471C>A (p.Tyr2157Ter)
n.1800C>A
n.3410C>A
n.1846C>A
c.6411C>A (p.Tyr2137Ter)
c.6339C>A (p.Tyr2113Ter)
c.2532C>A
c.6366C>A (p.Tyr2122Ter)
n.1838C>A
c.6438C>A (p.Tyr2146Ter)
c.5490C>A (p.Tyr1830Ter)
c.6666C>A (p.Tyr2222Ter)
c.6555C>A (p.Tyr2185Ter)
c.6477C>A (p.Tyr2159Ter)
c.6129C>A (p.Tyr2043Ter)
c.5754C>A (p.Tyr1918Ter)
c.6561C>A (p.Tyr2187Ter)
c.6663C>A (p.Tyr2221Ter)
c.6639C>A (p.Tyr2213Ter)
c.6606C>A (p.Tyr2202Ter)
c.6582C>A (p.Tyr2194Ter)
c.6537C>A (p.Tyr2179Ter)
3g.53811331C>GCA353259573CACNA1Dc.6471C>G (p.Tyr2157Ter)
n.1800C>G
n.3410C>G
n.1846C>G
c.6411C>G (p.Tyr2137Ter)
c.6339C>G (p.Tyr2113Ter)
c.2532C>G
c.6366C>G (p.Tyr2122Ter)
n.1838C>G
c.6438C>G (p.Tyr2146Ter)
c.5490C>G (p.Tyr1830Ter)
c.6666C>G (p.Tyr2222Ter)
c.6555C>G (p.Tyr2185Ter)
c.6477C>G (p.Tyr2159Ter)
c.6129C>G (p.Tyr2043Ter)
c.5754C>G (p.Tyr1918Ter)
c.6561C>G (p.Tyr2187Ter)
c.6663C>G (p.Tyr2221Ter)
c.6639C>G (p.Tyr2213Ter)
c.6606C>G (p.Tyr2202Ter)
c.6582C>G (p.Tyr2194Ter)
c.6537C>G (p.Tyr2179Ter)
3g.53811331C>TCA433896134CACNA1Dc.6471C>T (p.Tyr2157=)
n.1800C>T
n.3410C>T
n.1846C>T
c.6411C>T (p.Tyr2137=)
c.6339C>T (p.Tyr2113=)
c.2532C>T
c.6366C>T (p.Tyr2122=)
n.1838C>T
c.6438C>T (p.Tyr2146=)
c.5490C>T (p.Tyr1830=)
c.6666C>T (p.Tyr2222=)
c.6555C>T (p.Tyr2185=)
c.6477C>T (p.Tyr2159=)
c.6129C>T (p.Tyr2043=)
c.5754C>T (p.Tyr1918=)
c.6561C>T (p.Tyr2187=)
c.6663C>T (p.Tyr2221=)
c.6639C>T (p.Tyr2213=)
c.6606C>T (p.Tyr2202=)
c.6582C>T (p.Tyr2194=)
c.6537C>T (p.Tyr2179=)
 gnomAD v4
3g.53811332A>CCA353259578CACNA1Dc.6472A>C (p.Ser2158Arg)
n.1801A>C
n.3411A>C
n.1847A>C
c.6412A>C (p.Ser2138Arg)
c.6340A>C (p.Ser2114Arg)
c.2533A>C
c.6367A>C (p.Ser2123Arg)
n.1839A>C
c.6439A>C (p.Ser2147Arg)
c.5491A>C (p.Ser1831Arg)
c.6667A>C (p.Ser2223Arg)
c.6556A>C (p.Ser2186Arg)
c.6478A>C (p.Ser2160Arg)
c.6130A>C (p.Ser2044Arg)
c.5755A>C (p.Ser1919Arg)
c.6562A>C (p.Ser2188Arg)
c.6664A>C (p.Ser2222Arg)
c.6640A>C (p.Ser2214Arg)
c.6607A>C (p.Ser2203Arg)
c.6583A>C (p.Ser2195Arg)
c.6538A>C (p.Ser2180Arg)
3g.53811332A>GCA353259580CACNA1Dc.6472A>G (p.Ser2158Gly)
n.1801A>G
n.3411A>G
n.1847A>G
c.6412A>G (p.Ser2138Gly)
c.6340A>G (p.Ser2114Gly)
c.2533A>G
c.6367A>G (p.Ser2123Gly)
n.1839A>G
c.6439A>G (p.Ser2147Gly)
c.5491A>G (p.Ser1831Gly)
c.6667A>G (p.Ser2223Gly)
c.6556A>G (p.Ser2186Gly)
c.6478A>G (p.Ser2160Gly)
c.6130A>G (p.Ser2044Gly)
c.5755A>G (p.Ser1919Gly)
c.6562A>G (p.Ser2188Gly)
c.6664A>G (p.Ser2222Gly)
c.6640A>G (p.Ser2214Gly)
c.6607A>G (p.Ser2203Gly)
c.6583A>G (p.Ser2195Gly)
c.6538A>G (p.Ser2180Gly)
3g.53811332A>TCA353259577CACNA1Dc.6472A>T (p.Ser2158Cys)
n.1801A>T
n.3411A>T
n.1847A>T
c.6412A>T (p.Ser2138Cys)
c.6340A>T (p.Ser2114Cys)
c.2533A>T
c.6367A>T (p.Ser2123Cys)
n.1839A>T
c.6439A>T (p.Ser2147Cys)
c.5491A>T (p.Ser1831Cys)
c.6667A>T (p.Ser2223Cys)
c.6556A>T (p.Ser2186Cys)
c.6478A>T (p.Ser2160Cys)
c.6130A>T (p.Ser2044Cys)
c.5755A>T (p.Ser1919Cys)
c.6562A>T (p.Ser2188Cys)
c.6664A>T (p.Ser2222Cys)
c.6640A>T (p.Ser2214Cys)
c.6607A>T (p.Ser2203Cys)
c.6583A>T (p.Ser2195Cys)
c.6538A>T (p.Ser2180Cys)
3g.53811333G>ACA353259583CACNA1Dc.6473G>A (p.Ser2158Asn)
n.1802G>A
n.3412G>A
n.1848G>A
c.6413G>A (p.Ser2138Asn)
c.6341G>A (p.Ser2114Asn)
c.2534G>A
c.6368G>A (p.Ser2123Asn)
n.1840G>A
c.6440G>A (p.Ser2147Asn)
c.5492G>A (p.Ser1831Asn)
c.6668G>A (p.Ser2223Asn)
c.6557G>A (p.Ser2186Asn)
c.6479G>A (p.Ser2160Asn)
c.6131G>A (p.Ser2044Asn)
c.5756G>A (p.Ser1919Asn)
c.6563G>A (p.Ser2188Asn)
c.6665G>A (p.Ser2222Asn)
c.6641G>A (p.Ser2214Asn)
c.6608G>A (p.Ser2203Asn)
c.6584G>A (p.Ser2195Asn)
c.6539G>A (p.Ser2180Asn)
3g.53811333G>CCA353259585CACNA1Dc.6473G>C (p.Ser2158Thr)
n.1802G>C
n.3412G>C
n.1848G>C
c.6413G>C (p.Ser2138Thr)
c.6341G>C (p.Ser2114Thr)
c.2534G>C
c.6368G>C (p.Ser2123Thr)
n.1840G>C
c.6440G>C (p.Ser2147Thr)
c.5492G>C (p.Ser1831Thr)
c.6668G>C (p.Ser2223Thr)
c.6557G>C (p.Ser2186Thr)
c.6479G>C (p.Ser2160Thr)
c.6131G>C (p.Ser2044Thr)
c.5756G>C (p.Ser1919Thr)
c.6563G>C (p.Ser2188Thr)
c.6665G>C (p.Ser2222Thr)
c.6641G>C (p.Ser2214Thr)
c.6608G>C (p.Ser2203Thr)
c.6584G>C (p.Ser2195Thr)
c.6539G>C (p.Ser2180Thr)
 dbSNP
3g.53811333G=CA1365489041CACNA1Dc.6473G= (p.Ser2158=)
n.1802G=
n.3412G=
n.1848G=
c.6413G= (p.Ser2138=)
c.6341G= (p.Ser2114=)
c.2534G=
c.6368G= (p.Ser2123=)
n.1840G=
c.6440G= (p.Ser2147=)
c.5492G= (p.Ser1831=)
c.6668G= (p.Ser2223=)
c.6557G= (p.Ser2186=)
c.6479G= (p.Ser2160=)
c.6131G= (p.Ser2044=)
c.5756G= (p.Ser1919=)
c.6563G= (p.Ser2188=)
c.6665G= (p.Ser2222=)
c.6641G= (p.Ser2214=)
c.6608G= (p.Ser2203=)
c.6584G= (p.Ser2195=)
c.6539G= (p.Ser2180=)
3g.53811333G>TCA353259588CACNA1Dc.6473G>T (p.Ser2158Ile)
n.1802G>T
n.3412G>T
n.1848G>T
c.6413G>T (p.Ser2138Ile)
c.6341G>T (p.Ser2114Ile)
c.2534G>T
c.6368G>T (p.Ser2123Ile)
n.1840G>T
c.6440G>T (p.Ser2147Ile)
c.5492G>T (p.Ser1831Ile)
c.6668G>T (p.Ser2223Ile)
c.6557G>T (p.Ser2186Ile)
c.6479G>T (p.Ser2160Ile)
c.6131G>T (p.Ser2044Ile)
c.5756G>T (p.Ser1919Ile)
c.6563G>T (p.Ser2188Ile)
c.6665G>T (p.Ser2222Ile)
c.6641G>T (p.Ser2214Ile)
c.6608G>T (p.Ser2203Ile)
c.6584G>T (p.Ser2195Ile)
c.6539G>T (p.Ser2180Ile)
3g.53811334C>ACA353259592CACNA1Dc.6474C>A (p.Ser2158Arg)
n.1803C>A
n.3413C>A
n.1849C>A
c.6414C>A (p.Ser2138Arg)
c.6342C>A (p.Ser2114Arg)
c.2535C>A
c.6369C>A (p.Ser2123Arg)
n.1841C>A
c.6441C>A (p.Ser2147Arg)
c.5493C>A (p.Ser1831Arg)
c.6669C>A (p.Ser2223Arg)
c.6558C>A (p.Ser2186Arg)
c.6480C>A (p.Ser2160Arg)
c.6132C>A (p.Ser2044Arg)
c.5757C>A (p.Ser1919Arg)
c.6564C>A (p.Ser2188Arg)
c.6666C>A (p.Ser2222Arg)
c.6642C>A (p.Ser2214Arg)
c.6609C>A (p.Ser2203Arg)
c.6585C>A (p.Ser2195Arg)
c.6540C>A (p.Ser2180Arg)
3g.53811334C=CA1365489042CACNA1Dc.6474C= (p.Ser2158=)
n.1803C=
n.3413C=
n.1849C=
c.6414C= (p.Ser2138=)
c.6342C= (p.Ser2114=)
c.2535C=
c.6369C= (p.Ser2123=)
n.1841C=
c.6441C= (p.Ser2147=)
c.5493C= (p.Ser1831=)
c.6669C= (p.Ser2223=)
c.6558C= (p.Ser2186=)
c.6480C= (p.Ser2160=)
c.6132C= (p.Ser2044=)
c.5757C= (p.Ser1919=)
c.6564C= (p.Ser2188=)
c.6666C= (p.Ser2222=)
c.6642C= (p.Ser2214=)
c.6609C= (p.Ser2203=)
c.6585C= (p.Ser2195=)
c.6540C= (p.Ser2180=)
3g.53811334C>GCA353259594CACNA1Dc.6474C>G (p.Ser2158Arg)
n.1803C>G
n.3413C>G
n.1849C>G
c.6414C>G (p.Ser2138Arg)
c.6342C>G (p.Ser2114Arg)
c.2535C>G
c.6369C>G (p.Ser2123Arg)
n.1841C>G
c.6441C>G (p.Ser2147Arg)
c.5493C>G (p.Ser1831Arg)
c.6669C>G (p.Ser2223Arg)
c.6558C>G (p.Ser2186Arg)
c.6480C>G (p.Ser2160Arg)
c.6132C>G (p.Ser2044Arg)
c.5757C>G (p.Ser1919Arg)
c.6564C>G (p.Ser2188Arg)
c.6666C>G (p.Ser2222Arg)
c.6642C>G (p.Ser2214Arg)
c.6609C>G (p.Ser2203Arg)
c.6585C>G (p.Ser2195Arg)
c.6540C>G (p.Ser2180Arg)
3g.53811334C>TCA2455444CACNA1Dc.6474C>T (p.Ser2158=)
n.1803C>T
n.3413C>T
n.1849C>T
c.6414C>T (p.Ser2138=)
c.6342C>T (p.Ser2114=)
c.2535C>T
c.6369C>T (p.Ser2123=)
n.1841C>T
c.6441C>T (p.Ser2147=)
c.5493C>T (p.Ser1831=)
c.6669C>T (p.Ser2223=)
c.6558C>T (p.Ser2186=)
c.6480C>T (p.Ser2160=)
c.6132C>T (p.Ser2044=)
c.5757C>T (p.Ser1919=)
c.6564C>T (p.Ser2188=)
c.6666C>T (p.Ser2222=)
c.6642C>T (p.Ser2214=)
c.6609C>T (p.Ser2203=)
c.6585C>T (p.Ser2195=)
c.6540C>T (p.Ser2180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811335G>ACA353259599CACNA1Dc.6475G>A (p.Asp2159Asn)
n.1804G>A
n.3414G>A
n.1850G>A
c.6415G>A (p.Asp2139Asn)
c.6343G>A (p.Asp2115Asn)
c.2536G>A
c.6370G>A (p.Asp2124Asn)
n.1842G>A
c.6442G>A (p.Asp2148Asn)
c.5494G>A (p.Asp1832Asn)
c.6670G>A (p.Asp2224Asn)
c.6559G>A (p.Asp2187Asn)
c.6481G>A (p.Asp2161Asn)
c.6133G>A (p.Asp2045Asn)
c.5758G>A (p.Asp1920Asn)
c.6565G>A (p.Asp2189Asn)
c.6667G>A (p.Asp2223Asn)
c.6643G>A (p.Asp2215Asn)
c.6610G>A (p.Asp2204Asn)
c.6586G>A (p.Asp2196Asn)
c.6541G>A (p.Asp2181Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53811335G>CCA353259601CACNA1Dc.6475G>C (p.Asp2159His)
n.1804G>C
n.3414G>C
n.1850G>C
c.6415G>C (p.Asp2139His)
c.6343G>C (p.Asp2115His)
c.2536G>C
c.6370G>C (p.Asp2124His)
n.1842G>C
c.6442G>C (p.Asp2148His)
c.5494G>C (p.Asp1832His)
c.6670G>C (p.Asp2224His)
c.6559G>C (p.Asp2187His)
c.6481G>C (p.Asp2161His)
c.6133G>C (p.Asp2045His)
c.5758G>C (p.Asp1920His)
c.6565G>C (p.Asp2189His)
c.6667G>C (p.Asp2223His)
c.6643G>C (p.Asp2215His)
c.6610G>C (p.Asp2204His)
c.6586G>C (p.Asp2196His)
c.6541G>C (p.Asp2181His)
3g.53811335G=CA1365489043CACNA1Dc.6475G= (p.Asp2159=)
n.1804G=
n.3414G=
n.1850G=
c.6415G= (p.Asp2139=)
c.6343G= (p.Asp2115=)
c.2536G=
c.6370G= (p.Asp2124=)
n.1842G=
c.6442G= (p.Asp2148=)
c.5494G= (p.Asp1832=)
c.6670G= (p.Asp2224=)
c.6559G= (p.Asp2187=)
c.6481G= (p.Asp2161=)
c.6133G= (p.Asp2045=)
c.5758G= (p.Asp1920=)
c.6565G= (p.Asp2189=)
c.6667G= (p.Asp2223=)
c.6643G= (p.Asp2215=)
c.6610G= (p.Asp2204=)
c.6586G= (p.Asp2196=)
c.6541G= (p.Asp2181=)
3g.53811335G>TCA353259604CACNA1Dc.6475G>T (p.Asp2159Tyr)
n.1804G>T
n.3414G>T
n.1850G>T
c.6415G>T (p.Asp2139Tyr)
c.6343G>T (p.Asp2115Tyr)
c.2536G>T
c.6370G>T (p.Asp2124Tyr)
n.1842G>T
c.6442G>T (p.Asp2148Tyr)
c.5494G>T (p.Asp1832Tyr)
c.6670G>T (p.Asp2224Tyr)
c.6559G>T (p.Asp2187Tyr)
c.6481G>T (p.Asp2161Tyr)
c.6133G>T (p.Asp2045Tyr)
c.5758G>T (p.Asp1920Tyr)
c.6565G>T (p.Asp2189Tyr)
c.6667G>T (p.Asp2223Tyr)
c.6643G>T (p.Asp2215Tyr)
c.6610G>T (p.Asp2204Tyr)
c.6586G>T (p.Asp2196Tyr)
c.6541G>T (p.Asp2181Tyr)
3g.53811336A>CCA353259607CACNA1Dc.6476A>C (p.Asp2159Ala)
n.1805A>C
n.3415A>C
n.1851A>C
c.6416A>C (p.Asp2139Ala)
c.6344A>C (p.Asp2115Ala)
c.2537A>C
c.6371A>C (p.Asp2124Ala)
n.1843A>C
c.6443A>C (p.Asp2148Ala)
c.5495A>C (p.Asp1832Ala)
c.6671A>C (p.Asp2224Ala)
c.6560A>C (p.Asp2187Ala)
c.6482A>C (p.Asp2161Ala)
c.6134A>C (p.Asp2045Ala)
c.5759A>C (p.Asp1920Ala)
c.6566A>C (p.Asp2189Ala)
c.6668A>C (p.Asp2223Ala)
c.6644A>C (p.Asp2215Ala)
c.6611A>C (p.Asp2204Ala)
c.6587A>C (p.Asp2196Ala)
c.6542A>C (p.Asp2181Ala)
3g.53811336A>GCA353259610CACNA1Dc.6476A>G (p.Asp2159Gly)
n.1805A>G
n.3415A>G
n.1851A>G
c.6416A>G (p.Asp2139Gly)
c.6344A>G (p.Asp2115Gly)
c.2537A>G
c.6371A>G (p.Asp2124Gly)
n.1843A>G
c.6443A>G (p.Asp2148Gly)
c.5495A>G (p.Asp1832Gly)
c.6671A>G (p.Asp2224Gly)
c.6560A>G (p.Asp2187Gly)
c.6482A>G (p.Asp2161Gly)
c.6134A>G (p.Asp2045Gly)
c.5759A>G (p.Asp1920Gly)
c.6566A>G (p.Asp2189Gly)
c.6668A>G (p.Asp2223Gly)
c.6644A>G (p.Asp2215Gly)
c.6611A>G (p.Asp2204Gly)
c.6587A>G (p.Asp2196Gly)
c.6542A>G (p.Asp2181Gly)
3g.53811336A>TCA353259612CACNA1Dc.6476A>T (p.Asp2159Val)
n.1805A>T
n.3415A>T
n.1851A>T
c.6416A>T (p.Asp2139Val)
c.6344A>T (p.Asp2115Val)
c.2537A>T
c.6371A>T (p.Asp2124Val)
n.1843A>T
c.6443A>T (p.Asp2148Val)
c.5495A>T (p.Asp1832Val)
c.6671A>T (p.Asp2224Val)
c.6560A>T (p.Asp2187Val)
c.6482A>T (p.Asp2161Val)
c.6134A>T (p.Asp2045Val)
c.5759A>T (p.Asp1920Val)
c.6566A>T (p.Asp2189Val)
c.6668A>T (p.Asp2223Val)
c.6644A>T (p.Asp2215Val)
c.6611A>T (p.Asp2204Val)
c.6587A>T (p.Asp2196Val)
c.6542A>T (p.Asp2181Val)
3g.53811337C>ACA353259617CACNA1Dc.6477C>A (p.Asp2159Glu)
n.1806C>A
n.3416C>A
n.1852C>A
c.6417C>A (p.Asp2139Glu)
c.6345C>A (p.Asp2115Glu)
c.2538C>A
c.6372C>A (p.Asp2124Glu)
n.1844C>A
c.6444C>A (p.Asp2148Glu)
c.5496C>A (p.Asp1832Glu)
c.6672C>A (p.Asp2224Glu)
c.6561C>A (p.Asp2187Glu)
c.6483C>A (p.Asp2161Glu)
c.6135C>A (p.Asp2045Glu)
c.5760C>A (p.Asp1920Glu)
c.6567C>A (p.Asp2189Glu)
c.6669C>A (p.Asp2223Glu)
c.6645C>A (p.Asp2215Glu)
c.6612C>A (p.Asp2204Glu)
c.6588C>A (p.Asp2196Glu)
c.6543C>A (p.Asp2181Glu)
3g.53811337C=CA1365489044CACNA1Dc.6477C= (p.Asp2159=)
n.1806C=
n.3416C=
n.1852C=
c.6417C= (p.Asp2139=)
c.6345C= (p.Asp2115=)
c.2538C=
c.6372C= (p.Asp2124=)
n.1844C=
c.6444C= (p.Asp2148=)
c.5496C= (p.Asp1832=)
c.6672C= (p.Asp2224=)
c.6561C= (p.Asp2187=)
c.6483C= (p.Asp2161=)
c.6135C= (p.Asp2045=)
c.5760C= (p.Asp1920=)
c.6567C= (p.Asp2189=)
c.6669C= (p.Asp2223=)
c.6645C= (p.Asp2215=)
c.6612C= (p.Asp2204=)
c.6588C= (p.Asp2196=)
c.6543C= (p.Asp2181=)
3g.53811337C>GCA353259620CACNA1Dc.6477C>G (p.Asp2159Glu)
n.1806C>G
n.3416C>G
n.1852C>G
c.6417C>G (p.Asp2139Glu)
c.6345C>G (p.Asp2115Glu)
c.2538C>G
c.6372C>G (p.Asp2124Glu)
n.1844C>G
c.6444C>G (p.Asp2148Glu)
c.5496C>G (p.Asp1832Glu)
c.6672C>G (p.Asp2224Glu)
c.6561C>G (p.Asp2187Glu)
c.6483C>G (p.Asp2161Glu)
c.6135C>G (p.Asp2045Glu)
c.5760C>G (p.Asp1920Glu)
c.6567C>G (p.Asp2189Glu)
c.6669C>G (p.Asp2223Glu)
c.6645C>G (p.Asp2215Glu)
c.6612C>G (p.Asp2204Glu)
c.6588C>G (p.Asp2196Glu)
c.6543C>G (p.Asp2181Glu)
3g.53811337C>TCA2455445CACNA1Dc.6477C>T (p.Asp2159=)
n.1806C>T
n.3416C>T
n.1852C>T
c.6417C>T (p.Asp2139=)
c.6345C>T (p.Asp2115=)
c.2538C>T
c.6372C>T (p.Asp2124=)
n.1844C>T
c.6444C>T (p.Asp2148=)
c.5496C>T (p.Asp1832=)
c.6672C>T (p.Asp2224=)
c.6561C>T (p.Asp2187=)
c.6483C>T (p.Asp2161=)
c.6135C>T (p.Asp2045=)
c.5760C>T (p.Asp1920=)
c.6567C>T (p.Asp2189=)
c.6669C>T (p.Asp2223=)
c.6645C>T (p.Asp2215=)
c.6612C>T (p.Asp2204=)
c.6588C>T (p.Asp2196=)
c.6543C>T (p.Asp2181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811338G>ACA353259623CACNA1Dc.6478G>A (p.Glu2160Lys)
n.1807G>A
n.3417G>A
n.1853G>A
c.6418G>A (p.Glu2140Lys)
c.6346G>A (p.Glu2116Lys)
c.2539G>A
c.6373G>A (p.Glu2125Lys)
n.1845G>A
c.6445G>A (p.Glu2149Lys)
c.5497G>A (p.Glu1833Lys)
c.6673G>A (p.Glu2225Lys)
c.6562G>A (p.Glu2188Lys)
c.6484G>A (p.Glu2162Lys)
c.6136G>A (p.Glu2046Lys)
c.5761G>A (p.Glu1921Lys)
c.6568G>A (p.Glu2190Lys)
c.6670G>A (p.Glu2224Lys)
c.6646G>A (p.Glu2216Lys)
c.6613G>A (p.Glu2205Lys)
c.6589G>A (p.Glu2197Lys)
c.6544G>A (p.Glu2182Lys)
 gnomAD v4
3g.53811338G>CCA353259625CACNA1Dc.6478G>C (p.Glu2160Gln)
n.1807G>C
n.3417G>C
n.1853G>C
c.6418G>C (p.Glu2140Gln)
c.6346G>C (p.Glu2116Gln)
c.2539G>C
c.6373G>C (p.Glu2125Gln)
n.1845G>C
c.6445G>C (p.Glu2149Gln)
c.5497G>C (p.Glu1833Gln)
c.6673G>C (p.Glu2225Gln)
c.6562G>C (p.Glu2188Gln)
c.6484G>C (p.Glu2162Gln)
c.6136G>C (p.Glu2046Gln)
c.5761G>C (p.Glu1921Gln)
c.6568G>C (p.Glu2190Gln)
c.6670G>C (p.Glu2224Gln)
c.6646G>C (p.Glu2216Gln)
c.6613G>C (p.Glu2205Gln)
c.6589G>C (p.Glu2197Gln)
c.6544G>C (p.Glu2182Gln)
3g.53811338G>TCA353259627CACNA1Dc.6478G>T (p.Glu2160Ter)
n.1807G>T
n.3417G>T
n.1853G>T
c.6418G>T (p.Glu2140Ter)
c.6346G>T (p.Glu2116Ter)
c.2539G>T
c.6373G>T (p.Glu2125Ter)
n.1845G>T
c.6445G>T (p.Glu2149Ter)
c.5497G>T (p.Glu1833Ter)
c.6673G>T (p.Glu2225Ter)
c.6562G>T (p.Glu2188Ter)
c.6484G>T (p.Glu2162Ter)
c.6136G>T (p.Glu2046Ter)
c.5761G>T (p.Glu1921Ter)
c.6568G>T (p.Glu2190Ter)
c.6670G>T (p.Glu2224Ter)
c.6646G>T (p.Glu2216Ter)
c.6613G>T (p.Glu2205Ter)
c.6589G>T (p.Glu2197Ter)
c.6544G>T (p.Glu2182Ter)
3g.53811339A>CCA353259630CACNA1Dc.6479A>C (p.Glu2160Ala)
n.1808A>C
n.3418A>C
n.1854A>C
c.6419A>C (p.Glu2140Ala)
c.6347A>C (p.Glu2116Ala)
c.2540A>C
c.6374A>C (p.Glu2125Ala)
n.1846A>C
c.6446A>C (p.Glu2149Ala)
c.5498A>C (p.Glu1833Ala)
c.6674A>C (p.Glu2225Ala)
c.6563A>C (p.Glu2188Ala)
c.6485A>C (p.Glu2162Ala)
c.6137A>C (p.Glu2046Ala)
c.5762A>C (p.Glu1921Ala)
c.6569A>C (p.Glu2190Ala)
c.6671A>C (p.Glu2224Ala)
c.6647A>C (p.Glu2216Ala)
c.6614A>C (p.Glu2205Ala)
c.6590A>C (p.Glu2197Ala)
c.6545A>C (p.Glu2182Ala)
3g.53811339A>GCA353259632CACNA1Dc.6479A>G (p.Glu2160Gly)
n.1808A>G
n.3418A>G
n.1854A>G
c.6419A>G (p.Glu2140Gly)
c.6347A>G (p.Glu2116Gly)
c.2540A>G
c.6374A>G (p.Glu2125Gly)
n.1846A>G
c.6446A>G (p.Glu2149Gly)
c.5498A>G (p.Glu1833Gly)
c.6674A>G (p.Glu2225Gly)
c.6563A>G (p.Glu2188Gly)
c.6485A>G (p.Glu2162Gly)
c.6137A>G (p.Glu2046Gly)
c.5762A>G (p.Glu1921Gly)
c.6569A>G (p.Glu2190Gly)
c.6671A>G (p.Glu2224Gly)
c.6647A>G (p.Glu2216Gly)
c.6614A>G (p.Glu2205Gly)
c.6590A>G (p.Glu2197Gly)
c.6545A>G (p.Glu2182Gly)
3g.53811339A>TCA353259634CACNA1Dc.6479A>T (p.Glu2160Val)
n.1808A>T
n.3418A>T
n.1854A>T
c.6419A>T (p.Glu2140Val)
c.6347A>T (p.Glu2116Val)
c.2540A>T
c.6374A>T (p.Glu2125Val)
n.1846A>T
c.6446A>T (p.Glu2149Val)
c.5498A>T (p.Glu1833Val)
c.6674A>T (p.Glu2225Val)
c.6563A>T (p.Glu2188Val)
c.6485A>T (p.Glu2162Val)
c.6137A>T (p.Glu2046Val)
c.5762A>T (p.Glu1921Val)
c.6569A>T (p.Glu2190Val)
c.6671A>T (p.Glu2224Val)
c.6647A>T (p.Glu2216Val)
c.6614A>T (p.Glu2205Val)
c.6590A>T (p.Glu2197Val)
c.6545A>T (p.Glu2182Val)
3g.53811340A>CCA353259637CACNA1Dc.6480A>C (p.Glu2160Asp)
n.1809A>C
n.3419A>C
n.1855A>C
c.6420A>C (p.Glu2140Asp)
c.6348A>C (p.Glu2116Asp)
c.2541A>C
c.6375A>C (p.Glu2125Asp)
n.1847A>C
c.6447A>C (p.Glu2149Asp)
c.5499A>C (p.Glu1833Asp)
c.6675A>C (p.Glu2225Asp)
c.6564A>C (p.Glu2188Asp)
c.6486A>C (p.Glu2162Asp)
c.6138A>C (p.Glu2046Asp)
c.5763A>C (p.Glu1921Asp)
c.6570A>C (p.Glu2190Asp)
c.6672A>C (p.Glu2224Asp)
c.6648A>C (p.Glu2216Asp)
c.6615A>C (p.Glu2205Asp)
c.6591A>C (p.Glu2197Asp)
c.6546A>C (p.Glu2182Asp)
3g.53811340A>GCA433895818CACNA1Dc.6480A>G (p.Glu2160=)
n.1809A>G
n.3419A>G
n.1855A>G
c.6420A>G (p.Glu2140=)
c.6348A>G (p.Glu2116=)
c.2541A>G
c.6375A>G (p.Glu2125=)
n.1847A>G
c.6447A>G (p.Glu2149=)
c.5499A>G (p.Glu1833=)
c.6675A>G (p.Glu2225=)
c.6564A>G (p.Glu2188=)
c.6486A>G (p.Glu2162=)
c.6138A>G (p.Glu2046=)
c.5763A>G (p.Glu1921=)
c.6570A>G (p.Glu2190=)
c.6672A>G (p.Glu2224=)
c.6648A>G (p.Glu2216=)
c.6615A>G (p.Glu2205=)
c.6591A>G (p.Glu2197=)
c.6546A>G (p.Glu2182=)
 ClinVar
3g.53811340A>TCA353259639CACNA1Dc.6480A>T (p.Glu2160Asp)
n.1809A>T
n.3419A>T
n.1855A>T
c.6420A>T (p.Glu2140Asp)
c.6348A>T (p.Glu2116Asp)
c.2541A>T
c.6375A>T (p.Glu2125Asp)
n.1847A>T
c.6447A>T (p.Glu2149Asp)
c.5499A>T (p.Glu1833Asp)
c.6675A>T (p.Glu2225Asp)
c.6564A>T (p.Glu2188Asp)
c.6486A>T (p.Glu2162Asp)
c.6138A>T (p.Glu2046Asp)
c.5763A>T (p.Glu1921Asp)
c.6570A>T (p.Glu2190Asp)
c.6672A>T (p.Glu2224Asp)
c.6648A>T (p.Glu2216Asp)
c.6615A>T (p.Glu2205Asp)
c.6591A>T (p.Glu2197Asp)
c.6546A>T (p.Glu2182Asp)
3g.53811341G>ACA353259642CACNA1Dc.6481G>A (p.Glu2161Lys)
n.1810G>A
n.3420G>A
n.1856G>A
c.6421G>A (p.Glu2141Lys)
c.6349G>A (p.Glu2117Lys)
c.2542G>A
c.6376G>A (p.Glu2126Lys)
n.1848G>A
c.6448G>A (p.Glu2150Lys)
c.5500G>A (p.Glu1834Lys)
c.6676G>A (p.Glu2226Lys)
c.6565G>A (p.Glu2189Lys)
c.6487G>A (p.Glu2163Lys)
c.6139G>A (p.Glu2047Lys)
c.5764G>A (p.Glu1922Lys)
c.6571G>A (p.Glu2191Lys)
c.6673G>A (p.Glu2225Lys)
c.6649G>A (p.Glu2217Lys)
c.6616G>A (p.Glu2206Lys)
c.6592G>A (p.Glu2198Lys)
c.6547G>A (p.Glu2183Lys)
3g.53811341G>CCA353259645CACNA1Dc.6481G>C (p.Glu2161Gln)
n.1810G>C
n.3420G>C
n.1856G>C
c.6421G>C (p.Glu2141Gln)
c.6349G>C (p.Glu2117Gln)
c.2542G>C
c.6376G>C (p.Glu2126Gln)
n.1848G>C
c.6448G>C (p.Glu2150Gln)
c.5500G>C (p.Glu1834Gln)
c.6676G>C (p.Glu2226Gln)
c.6565G>C (p.Glu2189Gln)
c.6487G>C (p.Glu2163Gln)
c.6139G>C (p.Glu2047Gln)
c.5764G>C (p.Glu1922Gln)
c.6571G>C (p.Glu2191Gln)
c.6673G>C (p.Glu2225Gln)
c.6649G>C (p.Glu2217Gln)
c.6616G>C (p.Glu2206Gln)
c.6592G>C (p.Glu2198Gln)
c.6547G>C (p.Glu2183Gln)
3g.53811341G>TCA353259647CACNA1Dc.6481G>T (p.Glu2161Ter)
n.1810G>T
n.3420G>T
n.1856G>T
c.6421G>T (p.Glu2141Ter)
c.6349G>T (p.Glu2117Ter)
c.2542G>T
c.6376G>T (p.Glu2126Ter)
n.1848G>T
c.6448G>T (p.Glu2150Ter)
c.5500G>T (p.Glu1834Ter)
c.6676G>T (p.Glu2226Ter)
c.6565G>T (p.Glu2189Ter)
c.6487G>T (p.Glu2163Ter)
c.6139G>T (p.Glu2047Ter)
c.5764G>T (p.Glu1922Ter)
c.6571G>T (p.Glu2191Ter)
c.6673G>T (p.Glu2225Ter)
c.6649G>T (p.Glu2217Ter)
c.6616G>T (p.Glu2206Ter)
c.6592G>T (p.Glu2198Ter)
c.6547G>T (p.Glu2183Ter)
3g.53811342A>CCA353259650CACNA1Dc.6482A>C (p.Glu2161Ala)
n.1811A>C
n.3421A>C
n.1857A>C
c.6422A>C (p.Glu2141Ala)
c.6350A>C (p.Glu2117Ala)
c.2543A>C
c.6377A>C (p.Glu2126Ala)
n.1849A>C
c.6449A>C (p.Glu2150Ala)
c.5501A>C (p.Glu1834Ala)
c.6677A>C (p.Glu2226Ala)
c.6566A>C (p.Glu2189Ala)
c.6488A>C (p.Glu2163Ala)
c.6140A>C (p.Glu2047Ala)
c.5765A>C (p.Glu1922Ala)
c.6572A>C (p.Glu2191Ala)
c.6674A>C (p.Glu2225Ala)
c.6650A>C (p.Glu2217Ala)
c.6617A>C (p.Glu2206Ala)
c.6593A>C (p.Glu2198Ala)
c.6548A>C (p.Glu2183Ala)
3g.53811342A>GCA353259652CACNA1Dc.6482A>G (p.Glu2161Gly)
n.1811A>G
n.3421A>G
n.1857A>G
c.6422A>G (p.Glu2141Gly)
c.6350A>G (p.Glu2117Gly)
c.2543A>G
c.6377A>G (p.Glu2126Gly)
n.1849A>G
c.6449A>G (p.Glu2150Gly)
c.5501A>G (p.Glu1834Gly)
c.6677A>G (p.Glu2226Gly)
c.6566A>G (p.Glu2189Gly)
c.6488A>G (p.Glu2163Gly)
c.6140A>G (p.Glu2047Gly)
c.5765A>G (p.Glu1922Gly)
c.6572A>G (p.Glu2191Gly)
c.6674A>G (p.Glu2225Gly)
c.6650A>G (p.Glu2217Gly)
c.6617A>G (p.Glu2206Gly)
c.6593A>G (p.Glu2198Gly)
c.6548A>G (p.Glu2183Gly)
3g.53811342A>TCA353259655CACNA1Dc.6482A>T (p.Glu2161Val)
n.1811A>T
n.3421A>T
n.1857A>T
c.6422A>T (p.Glu2141Val)
c.6350A>T (p.Glu2117Val)
c.2543A>T
c.6377A>T (p.Glu2126Val)
n.1849A>T
c.6449A>T (p.Glu2150Val)
c.5501A>T (p.Glu1834Val)
c.6677A>T (p.Glu2226Val)
c.6566A>T (p.Glu2189Val)
c.6488A>T (p.Glu2163Val)
c.6140A>T (p.Glu2047Val)
c.5765A>T (p.Glu1922Val)
c.6572A>T (p.Glu2191Val)
c.6674A>T (p.Glu2225Val)
c.6650A>T (p.Glu2217Val)
c.6617A>T (p.Glu2206Val)
c.6593A>T (p.Glu2198Val)
c.6548A>T (p.Glu2183Val)
3g.53811343G>ACA433895827CACNA1Dc.6483G>A (p.Glu2161=)
n.1812G>A
n.3422G>A
n.1858G>A
c.6423G>A (p.Glu2141=)
c.6351G>A (p.Glu2117=)
c.2544G>A
c.6378G>A (p.Glu2126=)
n.1850G>A
c.6450G>A (p.Glu2150=)
c.5502G>A (p.Glu1834=)
c.6678G>A (p.Glu2226=)
c.6567G>A (p.Glu2189=)
c.6489G>A (p.Glu2163=)
c.6141G>A (p.Glu2047=)
c.5766G>A (p.Glu1922=)
c.6573G>A (p.Glu2191=)
c.6675G>A (p.Glu2225=)
c.6651G>A (p.Glu2217=)
c.6618G>A (p.Glu2206=)
c.6594G>A (p.Glu2198=)
c.6549G>A (p.Glu2183=)
3g.53811343G>CCA353259657CACNA1Dc.6483G>C (p.Glu2161Asp)
n.1812G>C
n.3422G>C
n.1858G>C
c.6423G>C (p.Glu2141Asp)
c.6351G>C (p.Glu2117Asp)
c.2544G>C
c.6378G>C (p.Glu2126Asp)
n.1850G>C
c.6450G>C (p.Glu2150Asp)
c.5502G>C (p.Glu1834Asp)
c.6678G>C (p.Glu2226Asp)
c.6567G>C (p.Glu2189Asp)
c.6489G>C (p.Glu2163Asp)
c.6141G>C (p.Glu2047Asp)
c.5766G>C (p.Glu1922Asp)
c.6573G>C (p.Glu2191Asp)
c.6675G>C (p.Glu2225Asp)
c.6651G>C (p.Glu2217Asp)
c.6618G>C (p.Glu2206Asp)
c.6594G>C (p.Glu2198Asp)
c.6549G>C (p.Glu2183Asp)
3g.53811343G=CA1365489045CACNA1Dc.6483G= (p.Glu2161=)
n.1812G=
n.3422G=
n.1858G=
c.6423G= (p.Glu2141=)
c.6351G= (p.Glu2117=)
c.2544G=
c.6378G= (p.Glu2126=)
n.1850G=
c.6450G= (p.Glu2150=)
c.5502G= (p.Glu1834=)
c.6678G= (p.Glu2226=)
c.6567G= (p.Glu2189=)
c.6489G= (p.Glu2163=)
c.6141G= (p.Glu2047=)
c.5766G= (p.Glu1922=)
c.6573G= (p.Glu2191=)
c.6675G= (p.Glu2225=)
c.6651G= (p.Glu2217=)
c.6618G= (p.Glu2206=)
c.6594G= (p.Glu2198=)
c.6549G= (p.Glu2183=)
3g.53811343G>TCA353259659CACNA1Dc.6483G>T (p.Glu2161Asp)
n.1812G>T
n.3422G>T
n.1858G>T
c.6423G>T (p.Glu2141Asp)
c.6351G>T (p.Glu2117Asp)
c.2544G>T
c.6378G>T (p.Glu2126Asp)
n.1850G>T
c.6450G>T (p.Glu2150Asp)
c.5502G>T (p.Glu1834Asp)
c.6678G>T (p.Glu2226Asp)
c.6567G>T (p.Glu2189Asp)
c.6489G>T (p.Glu2163Asp)
c.6141G>T (p.Glu2047Asp)
c.5766G>T (p.Glu1922Asp)
c.6573G>T (p.Glu2191Asp)
c.6675G>T (p.Glu2225Asp)
c.6651G>T (p.Glu2217Asp)
c.6618G>T (p.Glu2206Asp)
c.6594G>T (p.Glu2198Asp)
c.6549G>T (p.Glu2183Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.53811344C>ACA353259661CACNA1Dc.6484C>A (p.Pro2162Thr)
n.1813C>A
n.3423C>A
n.1859C>A
c.6424C>A (p.Pro2142Thr)
c.6352C>A (p.Pro2118Thr)
c.2545C>A
c.6379C>A (p.Pro2127Thr)
n.1851C>A
c.6451C>A (p.Pro2151Thr)
c.5503C>A (p.Pro1835Thr)
c.6679C>A (p.Pro2227Thr)
c.6568C>A (p.Pro2190Thr)
c.6490C>A (p.Pro2164Thr)
c.6142C>A (p.Pro2048Thr)
c.5767C>A (p.Pro1923Thr)
c.6574C>A (p.Pro2192Thr)
c.6676C>A (p.Pro2226Thr)
c.6652C>A (p.Pro2218Thr)
c.6619C>A (p.Pro2207Thr)
c.6595C>A (p.Pro2199Thr)
c.6550C>A (p.Pro2184Thr)
3g.53811344C=CA1365489046CACNA1Dc.6484C= (p.Pro2162=)
n.1813C=
n.3423C=
n.1859C=
c.6424C= (p.Pro2142=)
c.6352C= (p.Pro2118=)
c.2545C=
c.6379C= (p.Pro2127=)
n.1851C=
c.6451C= (p.Pro2151=)
c.5503C= (p.Pro1835=)
c.6679C= (p.Pro2227=)
c.6568C= (p.Pro2190=)
c.6490C= (p.Pro2164=)
c.6142C= (p.Pro2048=)
c.5767C= (p.Pro1923=)
c.6574C= (p.Pro2192=)
c.6676C= (p.Pro2226=)
c.6652C= (p.Pro2218=)
c.6619C= (p.Pro2207=)
c.6595C= (p.Pro2199=)
c.6550C= (p.Pro2184=)
3g.53811344C>GCA353259663CACNA1Dc.6484C>G (p.Pro2162Ala)
n.1813C>G
n.3423C>G
n.1859C>G
c.6424C>G (p.Pro2142Ala)
c.6352C>G (p.Pro2118Ala)
c.2545C>G
c.6379C>G (p.Pro2127Ala)
n.1851C>G
c.6451C>G (p.Pro2151Ala)
c.5503C>G (p.Pro1835Ala)
c.6679C>G (p.Pro2227Ala)
c.6568C>G (p.Pro2190Ala)
c.6490C>G (p.Pro2164Ala)
c.6142C>G (p.Pro2048Ala)
c.5767C>G (p.Pro1923Ala)
c.6574C>G (p.Pro2192Ala)
c.6676C>G (p.Pro2226Ala)
c.6652C>G (p.Pro2218Ala)
c.6619C>G (p.Pro2207Ala)
c.6595C>G (p.Pro2199Ala)
c.6550C>G (p.Pro2184Ala)
 dbSNP gnomAD v3 gnomAD v4
3g.53811344C>TCA353259662CACNA1Dc.6484C>T (p.Pro2162Ser)
n.1813C>T
n.3423C>T
n.1859C>T
c.6424C>T (p.Pro2142Ser)
c.6352C>T (p.Pro2118Ser)
c.2545C>T
c.6379C>T (p.Pro2127Ser)
n.1851C>T
c.6451C>T (p.Pro2151Ser)
c.5503C>T (p.Pro1835Ser)
c.6679C>T (p.Pro2227Ser)
c.6568C>T (p.Pro2190Ser)
c.6490C>T (p.Pro2164Ser)
c.6142C>T (p.Pro2048Ser)
c.5767C>T (p.Pro1923Ser)
c.6574C>T (p.Pro2192Ser)
c.6676C>T (p.Pro2226Ser)
c.6652C>T (p.Pro2218Ser)
c.6619C>T (p.Pro2207Ser)
c.6595C>T (p.Pro2199Ser)
c.6550C>T (p.Pro2184Ser)
3g.53811345C>ACA353259664CACNA1Dc.6485C>A (p.Pro2162Gln)
n.1814C>A
n.3424C>A
n.1860C>A
c.6425C>A (p.Pro2142Gln)
c.6353C>A (p.Pro2118Gln)
c.2546C>A
c.6380C>A (p.Pro2127Gln)
n.1852C>A
c.6452C>A (p.Pro2151Gln)
c.5504C>A (p.Pro1835Gln)
c.6680C>A (p.Pro2227Gln)
c.6569C>A (p.Pro2190Gln)
c.6491C>A (p.Pro2164Gln)
c.6143C>A (p.Pro2048Gln)
c.5768C>A (p.Pro1923Gln)
c.6575C>A (p.Pro2192Gln)
c.6677C>A (p.Pro2226Gln)
c.6653C>A (p.Pro2218Gln)
c.6620C>A (p.Pro2207Gln)
c.6596C>A (p.Pro2199Gln)
c.6551C>A (p.Pro2184Gln)
3g.53811345C>GCA353259666CACNA1Dc.6485C>G (p.Pro2162Arg)
n.1814C>G
n.3424C>G
n.1860C>G
c.6425C>G (p.Pro2142Arg)
c.6353C>G (p.Pro2118Arg)
c.2546C>G
c.6380C>G (p.Pro2127Arg)
n.1852C>G
c.6452C>G (p.Pro2151Arg)
c.5504C>G (p.Pro1835Arg)
c.6680C>G (p.Pro2227Arg)
c.6569C>G (p.Pro2190Arg)
c.6491C>G (p.Pro2164Arg)
c.6143C>G (p.Pro2048Arg)
c.5768C>G (p.Pro1923Arg)
c.6575C>G (p.Pro2192Arg)
c.6677C>G (p.Pro2226Arg)
c.6653C>G (p.Pro2218Arg)
c.6620C>G (p.Pro2207Arg)
c.6596C>G (p.Pro2199Arg)
c.6551C>G (p.Pro2184Arg)
3g.53811345C>TCA353259665CACNA1Dc.6485C>T (p.Pro2162Leu)
n.1814C>T
n.3424C>T
n.1860C>T
c.6425C>T (p.Pro2142Leu)
c.6353C>T (p.Pro2118Leu)
c.2546C>T
c.6380C>T (p.Pro2127Leu)
n.1852C>T
c.6452C>T (p.Pro2151Leu)
c.5504C>T (p.Pro1835Leu)
c.6680C>T (p.Pro2227Leu)
c.6569C>T (p.Pro2190Leu)
c.6491C>T (p.Pro2164Leu)
c.6143C>T (p.Pro2048Leu)
c.5768C>T (p.Pro1923Leu)
c.6575C>T (p.Pro2192Leu)
c.6677C>T (p.Pro2226Leu)
c.6653C>T (p.Pro2218Leu)
c.6620C>T (p.Pro2207Leu)
c.6596C>T (p.Pro2199Leu)
c.6551C>T (p.Pro2184Leu)
3g.53811346A>CCA433895833CACNA1Dc.6486A>C (p.Pro2162=)
n.1815A>C
n.3425A>C
n.1861A>C
c.6426A>C (p.Pro2142=)
c.6354A>C (p.Pro2118=)
c.2547A>C
c.6381A>C (p.Pro2127=)
n.1853A>C
c.6453A>C (p.Pro2151=)
c.5505A>C (p.Pro1835=)
c.6681A>C (p.Pro2227=)
c.6570A>C (p.Pro2190=)
c.6492A>C (p.Pro2164=)
c.6144A>C (p.Pro2048=)
c.5769A>C (p.Pro1923=)
c.6576A>C (p.Pro2192=)
c.6678A>C (p.Pro2226=)
c.6654A>C (p.Pro2218=)
c.6621A>C (p.Pro2207=)
c.6597A>C (p.Pro2199=)
c.6552A>C (p.Pro2184=)
3g.53811346A>GCA433895835CACNA1Dc.6486A>G (p.Pro2162=)
n.1815A>G
n.3425A>G
n.1861A>G
c.6426A>G (p.Pro2142=)
c.6354A>G (p.Pro2118=)
c.2547A>G
c.6381A>G (p.Pro2127=)
n.1853A>G
c.6453A>G (p.Pro2151=)
c.5505A>G (p.Pro1835=)
c.6681A>G (p.Pro2227=)
c.6570A>G (p.Pro2190=)
c.6492A>G (p.Pro2164=)
c.6144A>G (p.Pro2048=)
c.5769A>G (p.Pro1923=)
c.6576A>G (p.Pro2192=)
c.6678A>G (p.Pro2226=)
c.6654A>G (p.Pro2218=)
c.6621A>G (p.Pro2207=)
c.6597A>G (p.Pro2199=)
c.6552A>G (p.Pro2184=)
3g.53811346A>TCA433895839CACNA1Dc.6486A>T (p.Pro2162=)
n.1815A>T
n.3425A>T
n.1861A>T
c.6426A>T (p.Pro2142=)
c.6354A>T (p.Pro2118=)
c.2547A>T
c.6381A>T (p.Pro2127=)
n.1853A>T
c.6453A>T (p.Pro2151=)
c.5505A>T (p.Pro1835=)
c.6681A>T (p.Pro2227=)
c.6570A>T (p.Pro2190=)
c.6492A>T (p.Pro2164=)
c.6144A>T (p.Pro2048=)
c.5769A>T (p.Pro1923=)
c.6576A>T (p.Pro2192=)
c.6678A>T (p.Pro2226=)
c.6654A>T (p.Pro2218=)
c.6621A>T (p.Pro2207=)
c.6597A>T (p.Pro2199=)
c.6552A>T (p.Pro2184=)
3g.53811347G>ACA353259667CACNA1Dc.6487G>A (p.Asp2163Asn)
n.1816G>A
n.3426G>A
n.1862G>A
c.6427G>A (p.Asp2143Asn)
c.6355G>A (p.Asp2119Asn)
c.2548G>A
c.6382G>A (p.Asp2128Asn)
n.1854G>A
c.6454G>A (p.Asp2152Asn)
c.5506G>A (p.Asp1836Asn)
c.6682G>A (p.Asp2228Asn)
c.6571G>A (p.Asp2191Asn)
c.6493G>A (p.Asp2165Asn)
c.6145G>A (p.Asp2049Asn)
c.5770G>A (p.Asp1924Asn)
c.6577G>A (p.Asp2193Asn)
c.6679G>A (p.Asp2227Asn)
c.6655G>A (p.Asp2219Asn)
c.6622G>A (p.Asp2208Asn)
c.6598G>A (p.Asp2200Asn)
c.6553G>A (p.Asp2185Asn)
3g.53811347G>CCA353259668CACNA1Dc.6487G>C (p.Asp2163His)
n.1816G>C
n.3426G>C
n.1862G>C
c.6427G>C (p.Asp2143His)
c.6355G>C (p.Asp2119His)
c.2548G>C
c.6382G>C (p.Asp2128His)
n.1854G>C
c.6454G>C (p.Asp2152His)
c.5506G>C (p.Asp1836His)
c.6682G>C (p.Asp2228His)
c.6571G>C (p.Asp2191His)
c.6493G>C (p.Asp2165His)
c.6145G>C (p.Asp2049His)
c.5770G>C (p.Asp1924His)
c.6577G>C (p.Asp2193His)
c.6679G>C (p.Asp2227His)
c.6655G>C (p.Asp2219His)
c.6622G>C (p.Asp2208His)
c.6598G>C (p.Asp2200His)
c.6553G>C (p.Asp2185His)
3g.53811347G>TCA353259669CACNA1Dc.6487G>T (p.Asp2163Tyr)
n.1816G>T
n.3426G>T
n.1862G>T
c.6427G>T (p.Asp2143Tyr)
c.6355G>T (p.Asp2119Tyr)
c.2548G>T
c.6382G>T (p.Asp2128Tyr)
n.1854G>T
c.6454G>T (p.Asp2152Tyr)
c.5506G>T (p.Asp1836Tyr)
c.6682G>T (p.Asp2228Tyr)
c.6571G>T (p.Asp2191Tyr)
c.6493G>T (p.Asp2165Tyr)
c.6145G>T (p.Asp2049Tyr)
c.5770G>T (p.Asp1924Tyr)
c.6577G>T (p.Asp2193Tyr)
c.6679G>T (p.Asp2227Tyr)
c.6655G>T (p.Asp2219Tyr)
c.6622G>T (p.Asp2208Tyr)
c.6598G>T (p.Asp2200Tyr)
c.6553G>T (p.Asp2185Tyr)
3g.53811348A=CA1365489047CACNA1Dc.6488A= (p.Asp2163=)
n.1817A=
n.3427A=
n.1863A=
c.6428A= (p.Asp2143=)
c.6356A= (p.Asp2119=)
c.2549A=
c.6383A= (p.Asp2128=)
n.1855A=
c.6455A= (p.Asp2152=)
c.5507A= (p.Asp1836=)
c.6683A= (p.Asp2228=)
c.6572A= (p.Asp2191=)
c.6494A= (p.Asp2165=)
c.6146A= (p.Asp2049=)
c.5771A= (p.Asp1924=)
c.6578A= (p.Asp2193=)
c.6680A= (p.Asp2227=)
c.6656A= (p.Asp2219=)
c.6623A= (p.Asp2208=)
c.6599A= (p.Asp2200=)
c.6554A= (p.Asp2185=)
3g.53811348A>CCA353259670CACNA1Dc.6488A>C (p.Asp2163Ala)
n.1817A>C
n.3427A>C
n.1863A>C
c.6428A>C (p.Asp2143Ala)
c.6356A>C (p.Asp2119Ala)
c.2549A>C
c.6383A>C (p.Asp2128Ala)
n.1855A>C
c.6455A>C (p.Asp2152Ala)
c.5507A>C (p.Asp1836Ala)
c.6683A>C (p.Asp2228Ala)
c.6572A>C (p.Asp2191Ala)
c.6494A>C (p.Asp2165Ala)
c.6146A>C (p.Asp2049Ala)
c.5771A>C (p.Asp1924Ala)
c.6578A>C (p.Asp2193Ala)
c.6680A>C (p.Asp2227Ala)
c.6656A>C (p.Asp2219Ala)
c.6623A>C (p.Asp2208Ala)
c.6599A>C (p.Asp2200Ala)
c.6554A>C (p.Asp2185Ala)
3g.53811348A>GCA353259671CACNA1Dc.6488A>G (p.Asp2163Gly)
n.1817A>G
n.3427A>G
n.1863A>G
c.6428A>G (p.Asp2143Gly)
c.6356A>G (p.Asp2119Gly)
c.2549A>G
c.6383A>G (p.Asp2128Gly)
n.1855A>G
c.6455A>G (p.Asp2152Gly)
c.5507A>G (p.Asp1836Gly)
c.6683A>G (p.Asp2228Gly)
c.6572A>G (p.Asp2191Gly)
c.6494A>G (p.Asp2165Gly)
c.6146A>G (p.Asp2049Gly)
c.5771A>G (p.Asp1924Gly)
c.6578A>G (p.Asp2193Gly)
c.6680A>G (p.Asp2227Gly)
c.6656A>G (p.Asp2219Gly)
c.6623A>G (p.Asp2208Gly)
c.6599A>G (p.Asp2200Gly)
c.6554A>G (p.Asp2185Gly)
 dbSNP gnomAD v2
3g.53811348A>TCA353259672CACNA1Dc.6488A>T (p.Asp2163Val)
n.1817A>T
n.3427A>T
n.1863A>T
c.6428A>T (p.Asp2143Val)
c.6356A>T (p.Asp2119Val)
c.2549A>T
c.6383A>T (p.Asp2128Val)
n.1855A>T
c.6455A>T (p.Asp2152Val)
c.5507A>T (p.Asp1836Val)
c.6683A>T (p.Asp2228Val)
c.6572A>T (p.Asp2191Val)
c.6494A>T (p.Asp2165Val)
c.6146A>T (p.Asp2049Val)
c.5771A>T (p.Asp1924Val)
c.6578A>T (p.Asp2193Val)
c.6680A>T (p.Asp2227Val)
c.6656A>T (p.Asp2219Val)
c.6623A>T (p.Asp2208Val)
c.6599A>T (p.Asp2200Val)
c.6554A>T (p.Asp2185Val)
 gnomAD v4
3g.53811349C>ACA353259674CACNA1Dc.6489C>A (p.Asp2163Glu)
n.1818C>A
n.3428C>A
n.1864C>A
c.6429C>A (p.Asp2143Glu)
c.6357C>A (p.Asp2119Glu)
c.2550C>A
c.6384C>A (p.Asp2128Glu)
n.1856C>A
c.6456C>A (p.Asp2152Glu)
c.5508C>A (p.Asp1836Glu)
c.6684C>A (p.Asp2228Glu)
c.6573C>A (p.Asp2191Glu)
c.6495C>A (p.Asp2165Glu)
c.6147C>A (p.Asp2049Glu)
c.5772C>A (p.Asp1924Glu)
c.6579C>A (p.Asp2193Glu)
c.6681C>A (p.Asp2227Glu)
c.6657C>A (p.Asp2219Glu)
c.6624C>A (p.Asp2208Glu)
c.6600C>A (p.Asp2200Glu)
c.6555C>A (p.Asp2185Glu)
 gnomAD v4
3g.53811349C=CA1365489048CACNA1Dc.6489C= (p.Asp2163=)
n.1818C=
n.3428C=
n.1864C=
c.6429C= (p.Asp2143=)
c.6357C= (p.Asp2119=)
c.2550C=
c.6384C= (p.Asp2128=)
n.1856C=
c.6456C= (p.Asp2152=)
c.5508C= (p.Asp1836=)
c.6684C= (p.Asp2228=)
c.6573C= (p.Asp2191=)
c.6495C= (p.Asp2165=)
c.6147C= (p.Asp2049=)
c.5772C= (p.Asp1924=)
c.6579C= (p.Asp2193=)
c.6681C= (p.Asp2227=)
c.6657C= (p.Asp2219=)
c.6624C= (p.Asp2208=)
c.6600C= (p.Asp2200=)
c.6555C= (p.Asp2185=)
3g.53811349C>GCA353259673CACNA1Dc.6489C>G (p.Asp2163Glu)
n.1818C>G
n.3428C>G
n.1864C>G
c.6429C>G (p.Asp2143Glu)
c.6357C>G (p.Asp2119Glu)
c.2550C>G
c.6384C>G (p.Asp2128Glu)
n.1856C>G
c.6456C>G (p.Asp2152Glu)
c.5508C>G (p.Asp1836Glu)
c.6684C>G (p.Asp2228Glu)
c.6573C>G (p.Asp2191Glu)
c.6495C>G (p.Asp2165Glu)
c.6147C>G (p.Asp2049Glu)
c.5772C>G (p.Asp1924Glu)
c.6579C>G (p.Asp2193Glu)
c.6681C>G (p.Asp2227Glu)
c.6657C>G (p.Asp2219Glu)
c.6624C>G (p.Asp2208Glu)
c.6600C>G (p.Asp2200Glu)
c.6555C>G (p.Asp2185Glu)
3g.53811349C>TCA2455446CACNA1Dc.6489C>T (p.Asp2163=)
n.1818C>T
n.3428C>T
n.1864C>T
c.6429C>T (p.Asp2143=)
c.6357C>T (p.Asp2119=)
c.2550C>T
c.6384C>T (p.Asp2128=)
n.1856C>T
c.6456C>T (p.Asp2152=)
c.5508C>T (p.Asp1836=)
c.6684C>T (p.Asp2228=)
c.6573C>T (p.Asp2191=)
c.6495C>T (p.Asp2165=)
c.6147C>T (p.Asp2049=)
c.5772C>T (p.Asp1924=)
c.6579C>T (p.Asp2193=)
c.6681C>T (p.Asp2227=)
c.6657C>T (p.Asp2219=)
c.6624C>T (p.Asp2208=)
c.6600C>T (p.Asp2200=)
c.6555C>T (p.Asp2185=)
 ClinVar dbSNP ExAC gnomAD v2
3g.53811350C>ACA353259675CACNA1Dc.6490C>A (p.Pro2164Thr)
n.1819C>A
n.3429C>A
n.1865C>A
c.6430C>A (p.Pro2144Thr)
c.6358C>A (p.Pro2120Thr)
c.2551C>A
c.6385C>A (p.Pro2129Thr)
n.1857C>A
c.6457C>A (p.Pro2153Thr)
c.5509C>A (p.Pro1837Thr)
c.6685C>A (p.Pro2229Thr)
c.6574C>A (p.Pro2192Thr)
c.6496C>A (p.Pro2166Thr)
c.6148C>A (p.Pro2050Thr)
c.5773C>A (p.Pro1925Thr)
c.6580C>A (p.Pro2194Thr)
c.6682C>A (p.Pro2228Thr)
c.6658C>A (p.Pro2220Thr)
c.6625C>A (p.Pro2209Thr)
c.6601C>A (p.Pro2201Thr)
c.6556C>A (p.Pro2186Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.53811350C=CA1365489049CACNA1Dc.6490C= (p.Pro2164=)
n.1819C=
n.3429C=
n.1865C=
c.6430C= (p.Pro2144=)
c.6358C= (p.Pro2120=)
c.2551C=
c.6385C= (p.Pro2129=)
n.1857C=
c.6457C= (p.Pro2153=)
c.5509C= (p.Pro1837=)
c.6685C= (p.Pro2229=)
c.6574C= (p.Pro2192=)
c.6496C= (p.Pro2166=)
c.6148C= (p.Pro2050=)
c.5773C= (p.Pro1925=)
c.6580C= (p.Pro2194=)
c.6682C= (p.Pro2228=)
c.6658C= (p.Pro2220=)
c.6625C= (p.Pro2209=)
c.6601C= (p.Pro2201=)
c.6556C= (p.Pro2186=)
3g.53811350C>GCA353259676CACNA1Dc.6490C>G (p.Pro2164Ala)
n.1819C>G
n.3429C>G
n.1865C>G
c.6430C>G (p.Pro2144Ala)
c.6358C>G (p.Pro2120Ala)
c.2551C>G
c.6385C>G (p.Pro2129Ala)
n.1857C>G
c.6457C>G (p.Pro2153Ala)
c.5509C>G (p.Pro1837Ala)
c.6685C>G (p.Pro2229Ala)
c.6574C>G (p.Pro2192Ala)
c.6496C>G (p.Pro2166Ala)
c.6148C>G (p.Pro2050Ala)
c.5773C>G (p.Pro1925Ala)
c.6580C>G (p.Pro2194Ala)
c.6682C>G (p.Pro2228Ala)
c.6658C>G (p.Pro2220Ala)
c.6625C>G (p.Pro2209Ala)
c.6601C>G (p.Pro2201Ala)
c.6556C>G (p.Pro2186Ala)
3g.53811350C>TCA353259677CACNA1Dc.6490C>T (p.Pro2164Ser)
n.1819C>T
n.3429C>T
n.1865C>T
c.6430C>T (p.Pro2144Ser)
c.6358C>T (p.Pro2120Ser)
c.2551C>T
c.6385C>T (p.Pro2129Ser)
n.1857C>T
c.6457C>T (p.Pro2153Ser)
c.5509C>T (p.Pro1837Ser)
c.6685C>T (p.Pro2229Ser)
c.6574C>T (p.Pro2192Ser)
c.6496C>T (p.Pro2166Ser)
c.6148C>T (p.Pro2050Ser)
c.5773C>T (p.Pro1925Ser)
c.6580C>T (p.Pro2194Ser)
c.6682C>T (p.Pro2228Ser)
c.6658C>T (p.Pro2220Ser)
c.6625C>T (p.Pro2209Ser)
c.6601C>T (p.Pro2201Ser)
c.6556C>T (p.Pro2186Ser)
 gnomAD v4
3g.53811351C>ACA2455447CACNA1Dc.6491C>A (p.Pro2164His)
n.1820C>A
n.3430C>A
n.1866C>A
c.6431C>A (p.Pro2144His)
c.6359C>A (p.Pro2120His)
c.2552C>A
c.6386C>A (p.Pro2129His)
n.1858C>A
c.6458C>A (p.Pro2153His)
c.5510C>A (p.Pro1837His)
c.6686C>A (p.Pro2229His)
c.6575C>A (p.Pro2192His)
c.6497C>A (p.Pro2166His)
c.6149C>A (p.Pro2050His)
c.5774C>A (p.Pro1925His)
c.6581C>A (p.Pro2194His)
c.6683C>A (p.Pro2228His)
c.6659C>A (p.Pro2220His)
c.6626C>A (p.Pro2209His)
c.6602C>A (p.Pro2201His)
c.6557C>A (p.Pro2186His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811351C=CA1365489050CACNA1Dc.6491C= (p.Pro2164=)
n.1820C=
n.3430C=
n.1866C=
c.6431C= (p.Pro2144=)
c.6359C= (p.Pro2120=)
c.2552C=
c.6386C= (p.Pro2129=)
n.1858C=
c.6458C= (p.Pro2153=)
c.5510C= (p.Pro1837=)
c.6686C= (p.Pro2229=)
c.6575C= (p.Pro2192=)
c.6497C= (p.Pro2166=)
c.6149C= (p.Pro2050=)
c.5774C= (p.Pro1925=)
c.6581C= (p.Pro2194=)
c.6683C= (p.Pro2228=)
c.6659C= (p.Pro2220=)
c.6626C= (p.Pro2209=)
c.6602C= (p.Pro2201=)
c.6557C= (p.Pro2186=)
3g.53811351C>GCA353259678CACNA1Dc.6491C>G (p.Pro2164Arg)
n.1820C>G
n.3430C>G
n.1866C>G
c.6431C>G (p.Pro2144Arg)
c.6359C>G (p.Pro2120Arg)
c.2552C>G
c.6386C>G (p.Pro2129Arg)
n.1858C>G
c.6458C>G (p.Pro2153Arg)
c.5510C>G (p.Pro1837Arg)
c.6686C>G (p.Pro2229Arg)
c.6575C>G (p.Pro2192Arg)
c.6497C>G (p.Pro2166Arg)
c.6149C>G (p.Pro2050Arg)
c.5774C>G (p.Pro1925Arg)
c.6581C>G (p.Pro2194Arg)
c.6683C>G (p.Pro2228Arg)
c.6659C>G (p.Pro2220Arg)
c.6626C>G (p.Pro2209Arg)
c.6602C>G (p.Pro2201Arg)
c.6557C>G (p.Pro2186Arg)
3g.53811351C>TCA353259679CACNA1Dc.6491C>T (p.Pro2164Leu)
n.1820C>T
n.3430C>T
n.1866C>T
c.6431C>T (p.Pro2144Leu)
c.6359C>T (p.Pro2120Leu)
c.2552C>T
c.6386C>T (p.Pro2129Leu)
n.1858C>T
c.6458C>T (p.Pro2153Leu)
c.5510C>T (p.Pro1837Leu)
c.6686C>T (p.Pro2229Leu)
c.6575C>T (p.Pro2192Leu)
c.6497C>T (p.Pro2166Leu)
c.6149C>T (p.Pro2050Leu)
c.5774C>T (p.Pro1925Leu)
c.6581C>T (p.Pro2194Leu)
c.6683C>T (p.Pro2228Leu)
c.6659C>T (p.Pro2220Leu)
c.6626C>T (p.Pro2209Leu)
c.6602C>T (p.Pro2201Leu)
c.6557C>T (p.Pro2186Leu)
3g.53811352T>ACA433895847CACNA1Dc.6492T>A (p.Pro2164=)
n.1821T>A
n.3431T>A
n.1867T>A
c.6432T>A (p.Pro2144=)
c.6360T>A (p.Pro2120=)
c.2553T>A
c.6387T>A (p.Pro2129=)
n.1859T>A
c.6459T>A (p.Pro2153=)
c.5511T>A (p.Pro1837=)
c.6687T>A (p.Pro2229=)
c.6576T>A (p.Pro2192=)
c.6498T>A (p.Pro2166=)
c.6150T>A (p.Pro2050=)
c.5775T>A (p.Pro1925=)
c.6582T>A (p.Pro2194=)
c.6684T>A (p.Pro2228=)
c.6660T>A (p.Pro2220=)
c.6627T>A (p.Pro2209=)
c.6603T>A (p.Pro2201=)
c.6558T>A (p.Pro2186=)
3g.53811352T>CCA433895848CACNA1Dc.6492T>C (p.Pro2164=)
n.1821T>C
n.3431T>C
n.1867T>C
c.6432T>C (p.Pro2144=)
c.6360T>C (p.Pro2120=)
c.2553T>C
c.6387T>C (p.Pro2129=)
n.1859T>C
c.6459T>C (p.Pro2153=)
c.5511T>C (p.Pro1837=)
c.6687T>C (p.Pro2229=)
c.6576T>C (p.Pro2192=)
c.6498T>C (p.Pro2166=)
c.6150T>C (p.Pro2050=)
c.5775T>C (p.Pro1925=)
c.6582T>C (p.Pro2194=)
c.6684T>C (p.Pro2228=)
c.6660T>C (p.Pro2220=)
c.6627T>C (p.Pro2209=)
c.6603T>C (p.Pro2201=)
c.6558T>C (p.Pro2186=)
3g.53811352T>GCA433895849CACNA1Dc.6492T>G (p.Pro2164=)
n.1821T>G
n.3431T>G
n.1867T>G
c.6432T>G (p.Pro2144=)
c.6360T>G (p.Pro2120=)
c.2553T>G
c.6387T>G (p.Pro2129=)
n.1859T>G
c.6459T>G (p.Pro2153=)
c.5511T>G (p.Pro1837=)
c.6687T>G (p.Pro2229=)
c.6576T>G (p.Pro2192=)
c.6498T>G (p.Pro2166=)
c.6150T>G (p.Pro2050=)
c.5775T>G (p.Pro1925=)
c.6582T>G (p.Pro2194=)
c.6684T>G (p.Pro2228=)
c.6660T>G (p.Pro2220=)
c.6627T>G (p.Pro2209=)
c.6603T>G (p.Pro2201=)
c.6558T>G (p.Pro2186=)
3g.53811353G>ACA2455448CACNA1Dc.6493G>A (p.Gly2165Arg)
n.1822G>A
n.3432G>A
n.1868G>A
c.6433G>A (p.Gly2145Arg)
c.6361G>A (p.Gly2121Arg)
c.2554G>A
c.6388G>A (p.Gly2130Arg)
n.1860G>A
c.6460G>A (p.Gly2154Arg)
c.5512G>A (p.Gly1838Arg)
c.6688G>A (p.Gly2230Arg)
c.6577G>A (p.Gly2193Arg)
c.6499G>A (p.Gly2167Arg)
c.6151G>A (p.Gly2051Arg)
c.5776G>A (p.Gly1926Arg)
c.6583G>A (p.Gly2195Arg)
c.6685G>A (p.Gly2229Arg)
c.6661G>A (p.Gly2221Arg)
c.6628G>A (p.Gly2210Arg)
c.6604G>A (p.Gly2202Arg)
c.6559G>A (p.Gly2187Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53811353G>CCA353259681CACNA1Dc.6493G>C (p.Gly2165Arg)
n.1822G>C
n.3432G>C
n.1868G>C
c.6433G>C (p.Gly2145Arg)
c.6361G>C (p.Gly2121Arg)
c.2554G>C
c.6388G>C (p.Gly2130Arg)
n.1860G>C
c.6460G>C (p.Gly2154Arg)
c.5512G>C (p.Gly1838Arg)
c.6688G>C (p.Gly2230Arg)
c.6577G>C (p.Gly2193Arg)
c.6499G>C (p.Gly2167Arg)
c.6151G>C (p.Gly2051Arg)
c.5776G>C (p.Gly1926Arg)
c.6583G>C (p.Gly2195Arg)
c.6685G>C (p.Gly2229Arg)
c.6661G>C (p.Gly2221Arg)
c.6628G>C (p.Gly2210Arg)
c.6604G>C (p.Gly2202Arg)
c.6559G>C (p.Gly2187Arg)
3g.53811353G=CA1365489051CACNA1Dc.6493G= (p.Gly2165=)
n.1822G=
n.3432G=
n.1868G=
c.6433G= (p.Gly2145=)
c.6361G= (p.Gly2121=)
c.2554G=
c.6388G= (p.Gly2130=)
n.1860G=
c.6460G= (p.Gly2154=)
c.5512G= (p.Gly1838=)
c.6688G= (p.Gly2230=)
c.6577G= (p.Gly2193=)
c.6499G= (p.Gly2167=)
c.6151G= (p.Gly2051=)
c.5776G= (p.Gly1926=)
c.6583G= (p.Gly2195=)
c.6685G= (p.Gly2229=)
c.6661G= (p.Gly2221=)
c.6628G= (p.Gly2210=)
c.6604G= (p.Gly2202=)
c.6559G= (p.Gly2187=)
3g.53811353G>TCA353259680CACNA1Dc.6493G>T (p.Gly2165Trp)
n.1822G>T
n.3432G>T
n.1868G>T
c.6433G>T (p.Gly2145Trp)
c.6361G>T (p.Gly2121Trp)
c.2554G>T
c.6388G>T (p.Gly2130Trp)
n.1860G>T
c.6460G>T (p.Gly2154Trp)
c.5512G>T (p.Gly1838Trp)
c.6688G>T (p.Gly2230Trp)
c.6577G>T (p.Gly2193Trp)
c.6499G>T (p.Gly2167Trp)
c.6151G>T (p.Gly2051Trp)
c.5776G>T (p.Gly1926Trp)
c.6583G>T (p.Gly2195Trp)
c.6685G>T (p.Gly2229Trp)
c.6661G>T (p.Gly2221Trp)
c.6628G>T (p.Gly2210Trp)
c.6604G>T (p.Gly2202Trp)
c.6559G>T (p.Gly2187Trp)
3g.53811354G>ACA353259682CACNA1Dc.6494G>A (p.Gly2165Glu)
n.1823G>A
n.3433G>A
n.1869G>A
c.6434G>A (p.Gly2145Glu)
c.6362G>A (p.Gly2121Glu)
c.2555G>A
c.6389G>A (p.Gly2130Glu)
n.1861G>A
c.6461G>A (p.Gly2154Glu)
c.5513G>A (p.Gly1838Glu)
c.6689G>A (p.Gly2230Glu)
c.6578G>A (p.Gly2193Glu)
c.6500G>A (p.Gly2167Glu)
c.6152G>A (p.Gly2051Glu)
c.5777G>A (p.Gly1926Glu)
c.6584G>A (p.Gly2195Glu)
c.6686G>A (p.Gly2229Glu)
c.6662G>A (p.Gly2221Glu)
c.6629G>A (p.Gly2210Glu)
c.6605G>A (p.Gly2202Glu)
c.6560G>A (p.Gly2187Glu)
 gnomAD v4
3g.53811354G>CCA353259683CACNA1Dc.6494G>C (p.Gly2165Ala)
n.1823G>C
n.3433G>C
n.1869G>C
c.6434G>C (p.Gly2145Ala)
c.6362G>C (p.Gly2121Ala)
c.2555G>C
c.6389G>C (p.Gly2130Ala)
n.1861G>C
c.6461G>C (p.Gly2154Ala)
c.5513G>C (p.Gly1838Ala)
c.6689G>C (p.Gly2230Ala)
c.6578G>C (p.Gly2193Ala)
c.6500G>C (p.Gly2167Ala)
c.6152G>C (p.Gly2051Ala)
c.5777G>C (p.Gly1926Ala)
c.6584G>C (p.Gly2195Ala)
c.6686G>C (p.Gly2229Ala)
c.6662G>C (p.Gly2221Ala)
c.6629G>C (p.Gly2210Ala)
c.6605G>C (p.Gly2202Ala)
c.6560G>C (p.Gly2187Ala)
3g.53811354G>TCA353259684CACNA1Dc.6494G>T (p.Gly2165Val)
n.1823G>T
n.3433G>T
n.1869G>T
c.6434G>T (p.Gly2145Val)
c.6362G>T (p.Gly2121Val)
c.2555G>T
c.6389G>T (p.Gly2130Val)
n.1861G>T
c.6461G>T (p.Gly2154Val)
c.5513G>T (p.Gly1838Val)
c.6689G>T (p.Gly2230Val)
c.6578G>T (p.Gly2193Val)
c.6500G>T (p.Gly2167Val)
c.6152G>T (p.Gly2051Val)
c.5777G>T (p.Gly1926Val)
c.6584G>T (p.Gly2195Val)
c.6686G>T (p.Gly2229Val)
c.6662G>T (p.Gly2221Val)
c.6629G>T (p.Gly2210Val)
c.6605G>T (p.Gly2202Val)
c.6560G>T (p.Gly2187Val)
3g.53811355G>ACA433895856CACNA1Dc.6495G>A (p.Gly2165=)
n.1824G>A
n.3434G>A
n.1870G>A
c.6435G>A (p.Gly2145=)
c.6363G>A (p.Gly2121=)
c.2556G>A
c.6390G>A (p.Gly2130=)
n.1862G>A
c.6462G>A (p.Gly2154=)
c.5514G>A (p.Gly1838=)
c.6690G>A (p.Gly2230=)
c.6579G>A (p.Gly2193=)
c.6501G>A (p.Gly2167=)
c.6153G>A (p.Gly2051=)
c.5778G>A (p.Gly1926=)
c.6585G>A (p.Gly2195=)
c.6687G>A (p.Gly2229=)
c.6663G>A (p.Gly2221=)
c.6630G>A (p.Gly2210=)
c.6606G>A (p.Gly2202=)
c.6561G>A (p.Gly2187=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811355G>CCA433895857CACNA1Dc.6495G>C (p.Gly2165=)
n.1824G>C
n.3434G>C
n.1870G>C
c.6435G>C (p.Gly2145=)
c.6363G>C (p.Gly2121=)
c.2556G>C
c.6390G>C (p.Gly2130=)
n.1862G>C
c.6462G>C (p.Gly2154=)
c.5514G>C (p.Gly1838=)
c.6690G>C (p.Gly2230=)
c.6579G>C (p.Gly2193=)
c.6501G>C (p.Gly2167=)
c.6153G>C (p.Gly2051=)
c.5778G>C (p.Gly1926=)
c.6585G>C (p.Gly2195=)
c.6687G>C (p.Gly2229=)
c.6663G>C (p.Gly2221=)
c.6630G>C (p.Gly2210=)
c.6606G>C (p.Gly2202=)
c.6561G>C (p.Gly2187=)
3g.53811355G=CA1365489052CACNA1Dc.6495G= (p.Gly2165=)
n.1824G=
n.3434G=
n.1870G=
c.6435G= (p.Gly2145=)
c.6363G= (p.Gly2121=)
c.2556G=
c.6390G= (p.Gly2130=)
n.1862G=
c.6462G= (p.Gly2154=)
c.5514G= (p.Gly1838=)
c.6690G= (p.Gly2230=)
c.6579G= (p.Gly2193=)
c.6501G= (p.Gly2167=)
c.6153G= (p.Gly2051=)
c.5778G= (p.Gly1926=)
c.6585G= (p.Gly2195=)
c.6687G= (p.Gly2229=)
c.6663G= (p.Gly2221=)
c.6630G= (p.Gly2210=)
c.6606G= (p.Gly2202=)
c.6561G= (p.Gly2187=)
3g.53811355G>TCA433895858CACNA1Dc.6495G>T (p.Gly2165=)
n.1824G>T
n.3434G>T
n.1870G>T
c.6435G>T (p.Gly2145=)
c.6363G>T (p.Gly2121=)
c.2556G>T
c.6390G>T (p.Gly2130=)
n.1862G>T
c.6462G>T (p.Gly2154=)
c.5514G>T (p.Gly1838=)
c.6690G>T (p.Gly2230=)
c.6579G>T (p.Gly2193=)
c.6501G>T (p.Gly2167=)
c.6153G>T (p.Gly2051=)
c.5778G>T (p.Gly1926=)
c.6585G>T (p.Gly2195=)
c.6687G>T (p.Gly2229=)
c.6663G>T (p.Gly2221=)
c.6630G>T (p.Gly2210=)
c.6606G>T (p.Gly2202=)
c.6561G>T (p.Gly2187=)
3g.53811356A>CCA433895860CACNA1Dc.6496A>C (p.Arg2166=)
n.1825A>C
n.3435A>C
n.1871A>C
c.6436A>C (p.Arg2146=)
c.6364A>C (p.Arg2122=)
c.2557A>C
c.6391A>C (p.Arg2131=)
n.1863A>C
c.6463A>C (p.Arg2155=)
c.5515A>C (p.Arg1839=)
c.6691A>C (p.Arg2231=)
c.6580A>C (p.Arg2194=)
c.6502A>C (p.Arg2168=)
c.6154A>C (p.Arg2052=)
c.5779A>C (p.Arg1927=)
c.6586A>C (p.Arg2196=)
c.6688A>C (p.Arg2230=)
c.6664A>C (p.Arg2222=)
c.6631A>C (p.Arg2211=)
c.6607A>C (p.Arg2203=)
c.6562A>C (p.Arg2188=)
3g.53811356A>GCA353259685CACNA1Dc.6496A>G (p.Arg2166Gly)
n.1825A>G
n.3435A>G
n.1871A>G
c.6436A>G (p.Arg2146Gly)
c.6364A>G (p.Arg2122Gly)
c.2557A>G
c.6391A>G (p.Arg2131Gly)
n.1863A>G
c.6463A>G (p.Arg2155Gly)
c.5515A>G (p.Arg1839Gly)
c.6691A>G (p.Arg2231Gly)
c.6580A>G (p.Arg2194Gly)
c.6502A>G (p.Arg2168Gly)
c.6154A>G (p.Arg2052Gly)
c.5779A>G (p.Arg1927Gly)
c.6586A>G (p.Arg2196Gly)
c.6688A>G (p.Arg2230Gly)
c.6664A>G (p.Arg2222Gly)
c.6631A>G (p.Arg2211Gly)
c.6607A>G (p.Arg2203Gly)
c.6562A>G (p.Arg2188Gly)
 gnomAD v4
3g.53811356A>TCA353259686CACNA1Dc.6496A>T (p.Arg2166Trp)
n.1825A>T
n.3435A>T
n.1871A>T
c.6436A>T (p.Arg2146Trp)
c.6364A>T (p.Arg2122Trp)
c.2557A>T
c.6391A>T (p.Arg2131Trp)
n.1863A>T
c.6463A>T (p.Arg2155Trp)
c.5515A>T (p.Arg1839Trp)
c.6691A>T (p.Arg2231Trp)
c.6580A>T (p.Arg2194Trp)
c.6502A>T (p.Arg2168Trp)
c.6154A>T (p.Arg2052Trp)
c.5779A>T (p.Arg1927Trp)
c.6586A>T (p.Arg2196Trp)
c.6688A>T (p.Arg2230Trp)
c.6664A>T (p.Arg2222Trp)
c.6631A>T (p.Arg2211Trp)
c.6607A>T (p.Arg2203Trp)
c.6562A>T (p.Arg2188Trp)
3g.53811357G>ACA2455449CACNA1Dc.6497G>A (p.Arg2166Lys)
n.1826G>A
n.3436G>A
n.1872G>A
c.6437G>A (p.Arg2146Lys)
c.6365G>A (p.Arg2122Lys)
c.2558G>A
c.6392G>A (p.Arg2131Lys)
n.1864G>A
c.6464G>A (p.Arg2155Lys)
c.5516G>A (p.Arg1839Lys)
c.6692G>A (p.Arg2231Lys)
c.6581G>A (p.Arg2194Lys)
c.6503G>A (p.Arg2168Lys)
c.6155G>A (p.Arg2052Lys)
c.5780G>A (p.Arg1927Lys)
c.6587G>A (p.Arg2196Lys)
c.6689G>A (p.Arg2230Lys)
c.6665G>A (p.Arg2222Lys)
c.6632G>A (p.Arg2211Lys)
c.6608G>A (p.Arg2203Lys)
c.6563G>A (p.Arg2188Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811357G>CCA353259687CACNA1Dc.6497G>C (p.Arg2166Thr)
n.1826G>C
n.3436G>C
n.1872G>C
c.6437G>C (p.Arg2146Thr)
c.6365G>C (p.Arg2122Thr)
c.2558G>C
c.6392G>C (p.Arg2131Thr)
n.1864G>C
c.6464G>C (p.Arg2155Thr)
c.5516G>C (p.Arg1839Thr)
c.6692G>C (p.Arg2231Thr)
c.6581G>C (p.Arg2194Thr)
c.6503G>C (p.Arg2168Thr)
c.6155G>C (p.Arg2052Thr)
c.5780G>C (p.Arg1927Thr)
c.6587G>C (p.Arg2196Thr)
c.6689G>C (p.Arg2230Thr)
c.6665G>C (p.Arg2222Thr)
c.6632G>C (p.Arg2211Thr)
c.6608G>C (p.Arg2203Thr)
c.6563G>C (p.Arg2188Thr)
3g.53811357G=CA1365489053CACNA1Dc.6497G= (p.Arg2166=)
n.1826G=
n.3436G=
n.1872G=
c.6437G= (p.Arg2146=)
c.6365G= (p.Arg2122=)
c.2558G=
c.6392G= (p.Arg2131=)
n.1864G=
c.6464G= (p.Arg2155=)
c.5516G= (p.Arg1839=)
c.6692G= (p.Arg2231=)
c.6581G= (p.Arg2194=)
c.6503G= (p.Arg2168=)
c.6155G= (p.Arg2052=)
c.5780G= (p.Arg1927=)
c.6587G= (p.Arg2196=)
c.6689G= (p.Arg2230=)
c.6665G= (p.Arg2222=)
c.6632G= (p.Arg2211=)
c.6608G= (p.Arg2203=)
c.6563G= (p.Arg2188=)
3g.53811357G>TCA353259688CACNA1Dc.6497G>T (p.Arg2166Met)
n.1826G>T
n.3436G>T
n.1872G>T
c.6437G>T (p.Arg2146Met)
c.6365G>T (p.Arg2122Met)
c.2558G>T
c.6392G>T (p.Arg2131Met)
n.1864G>T
c.6464G>T (p.Arg2155Met)
c.5516G>T (p.Arg1839Met)
c.6692G>T (p.Arg2231Met)
c.6581G>T (p.Arg2194Met)
c.6503G>T (p.Arg2168Met)
c.6155G>T (p.Arg2052Met)
c.5780G>T (p.Arg1927Met)
c.6587G>T (p.Arg2196Met)
c.6689G>T (p.Arg2230Met)
c.6665G>T (p.Arg2222Met)
c.6632G>T (p.Arg2211Met)
c.6608G>T (p.Arg2203Met)
c.6563G>T (p.Arg2188Met)
3g.53811358G>ACA2455450CACNA1Dc.6498G>A (p.Arg2166=)
n.1827G>A
n.3437G>A
n.1873G>A
c.6438G>A (p.Arg2146=)
c.6366G>A (p.Arg2122=)
c.2559G>A
c.6393G>A (p.Arg2131=)
n.1865G>A
c.6465G>A (p.Arg2155=)
c.5517G>A (p.Arg1839=)
c.6693G>A (p.Arg2231=)
c.6582G>A (p.Arg2194=)
c.6504G>A (p.Arg2168=)
c.6156G>A (p.Arg2052=)
c.5781G>A (p.Arg1927=)
c.6588G>A (p.Arg2196=)
c.6690G>A (p.Arg2230=)
c.6666G>A (p.Arg2222=)
c.6633G>A (p.Arg2211=)
c.6609G>A (p.Arg2203=)
c.6564G>A (p.Arg2188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811358G>CCA353259689CACNA1Dc.6498G>C (p.Arg2166Ser)
n.1827G>C
n.3437G>C
n.1873G>C
c.6438G>C (p.Arg2146Ser)
c.6366G>C (p.Arg2122Ser)
c.2559G>C
c.6393G>C (p.Arg2131Ser)
n.1865G>C
c.6465G>C (p.Arg2155Ser)
c.5517G>C (p.Arg1839Ser)
c.6693G>C (p.Arg2231Ser)
c.6582G>C (p.Arg2194Ser)
c.6504G>C (p.Arg2168Ser)
c.6156G>C (p.Arg2052Ser)
c.5781G>C (p.Arg1927Ser)
c.6588G>C (p.Arg2196Ser)
c.6690G>C (p.Arg2230Ser)
c.6666G>C (p.Arg2222Ser)
c.6633G>C (p.Arg2211Ser)
c.6609G>C (p.Arg2203Ser)
c.6564G>C (p.Arg2188Ser)
3g.53811358G=CA1365489054CACNA1Dc.6498G= (p.Arg2166=)
n.1827G=
n.3437G=
n.1873G=
c.6438G= (p.Arg2146=)
c.6366G= (p.Arg2122=)
c.2559G=
c.6393G= (p.Arg2131=)
n.1865G=
c.6465G= (p.Arg2155=)
c.5517G= (p.Arg1839=)
c.6693G= (p.Arg2231=)
c.6582G= (p.Arg2194=)
c.6504G= (p.Arg2168=)
c.6156G= (p.Arg2052=)
c.5781G= (p.Arg1927=)
c.6588G= (p.Arg2196=)
c.6690G= (p.Arg2230=)
c.6666G= (p.Arg2222=)
c.6633G= (p.Arg2211=)
c.6609G= (p.Arg2203=)
c.6564G= (p.Arg2188=)
3g.53811358G>TCA353259691CACNA1Dc.6498G>T (p.Arg2166Ser)
n.1827G>T
n.3437G>T
n.1873G>T
c.6438G>T (p.Arg2146Ser)
c.6366G>T (p.Arg2122Ser)
c.2559G>T
c.6393G>T (p.Arg2131Ser)
n.1865G>T
c.6465G>T (p.Arg2155Ser)
c.5517G>T (p.Arg1839Ser)
c.6693G>T (p.Arg2231Ser)
c.6582G>T (p.Arg2194Ser)
c.6504G>T (p.Arg2168Ser)
c.6156G>T (p.Arg2052Ser)
c.5781G>T (p.Arg1927Ser)
c.6588G>T (p.Arg2196Ser)
c.6690G>T (p.Arg2230Ser)
c.6666G>T (p.Arg2222Ser)
c.6633G>T (p.Arg2211Ser)
c.6609G>T (p.Arg2203Ser)
c.6564G>T (p.Arg2188Ser)
 ClinVar
3g.53811359G>ACA353259694CACNA1Dc.6499G>A (p.Asp2167Asn)
n.1828G>A
n.3438G>A
n.1874G>A
c.6439G>A (p.Asp2147Asn)
c.6367G>A (p.Asp2123Asn)
c.2560G>A
c.6394G>A (p.Asp2132Asn)
n.1866G>A
c.6466G>A (p.Asp2156Asn)
c.5518G>A (p.Asp1840Asn)
c.6694G>A (p.Asp2232Asn)
c.6583G>A (p.Asp2195Asn)
c.6505G>A (p.Asp2169Asn)
c.6157G>A (p.Asp2053Asn)
c.5782G>A (p.Asp1928Asn)
c.6589G>A (p.Asp2197Asn)
c.6691G>A (p.Asp2231Asn)
c.6667G>A (p.Asp2223Asn)
c.6634G>A (p.Asp2212Asn)
c.6610G>A (p.Asp2204Asn)
c.6565G>A (p.Asp2189Asn)
 gnomAD v4
3g.53811359G>CCA353259697CACNA1Dc.6499G>C (p.Asp2167His)
n.1828G>C
n.3438G>C
n.1874G>C
c.6439G>C (p.Asp2147His)
c.6367G>C (p.Asp2123His)
c.2560G>C
c.6394G>C (p.Asp2132His)
n.1866G>C
c.6466G>C (p.Asp2156His)
c.5518G>C (p.Asp1840His)
c.6694G>C (p.Asp2232His)
c.6583G>C (p.Asp2195His)
c.6505G>C (p.Asp2169His)
c.6157G>C (p.Asp2053His)
c.5782G>C (p.Asp1928His)
c.6589G>C (p.Asp2197His)
c.6691G>C (p.Asp2231His)
c.6667G>C (p.Asp2223His)
c.6634G>C (p.Asp2212His)
c.6610G>C (p.Asp2204His)
c.6565G>C (p.Asp2189His)
3g.53811359G=CA1365489055CACNA1Dc.6499G= (p.Asp2167=)
n.1828G=
n.3438G=
n.1874G=
c.6439G= (p.Asp2147=)
c.6367G= (p.Asp2123=)
c.2560G=
c.6394G= (p.Asp2132=)
n.1866G=
c.6466G= (p.Asp2156=)
c.5518G= (p.Asp1840=)
c.6694G= (p.Asp2232=)
c.6583G= (p.Asp2195=)
c.6505G= (p.Asp2169=)
c.6157G= (p.Asp2053=)
c.5782G= (p.Asp1928=)
c.6589G= (p.Asp2197=)
c.6691G= (p.Asp2231=)
c.6667G= (p.Asp2223=)
c.6634G= (p.Asp2212=)
c.6610G= (p.Asp2204=)
c.6565G= (p.Asp2189=)
3g.53811359G>TCA353259696CACNA1Dc.6499G>T (p.Asp2167Tyr)
n.1828G>T
n.3438G>T
n.1874G>T
c.6439G>T (p.Asp2147Tyr)
c.6367G>T (p.Asp2123Tyr)
c.2560G>T
c.6394G>T (p.Asp2132Tyr)
n.1866G>T
c.6466G>T (p.Asp2156Tyr)
c.5518G>T (p.Asp1840Tyr)
c.6694G>T (p.Asp2232Tyr)
c.6583G>T (p.Asp2195Tyr)
c.6505G>T (p.Asp2169Tyr)
c.6157G>T (p.Asp2053Tyr)
c.5782G>T (p.Asp1928Tyr)
c.6589G>T (p.Asp2197Tyr)
c.6691G>T (p.Asp2231Tyr)
c.6667G>T (p.Asp2223Tyr)
c.6634G>T (p.Asp2212Tyr)
c.6610G>T (p.Asp2204Tyr)
c.6565G>T (p.Asp2189Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.53811360A>CCA353259698CACNA1Dc.6500A>C (p.Asp2167Ala)
n.1829A>C
n.3439A>C
n.1875A>C
c.6440A>C (p.Asp2147Ala)
c.6368A>C (p.Asp2123Ala)
c.2561A>C
c.6395A>C (p.Asp2132Ala)
n.1867A>C
c.6467A>C (p.Asp2156Ala)
c.5519A>C (p.Asp1840Ala)
c.6695A>C (p.Asp2232Ala)
c.6584A>C (p.Asp2195Ala)
c.6506A>C (p.Asp2169Ala)
c.6158A>C (p.Asp2053Ala)
c.5783A>C (p.Asp1928Ala)
c.6590A>C (p.Asp2197Ala)
c.6692A>C (p.Asp2231Ala)
c.6668A>C (p.Asp2223Ala)
c.6635A>C (p.Asp2212Ala)
c.6611A>C (p.Asp2204Ala)
c.6566A>C (p.Asp2189Ala)
3g.53811360A>GCA353259700CACNA1Dc.6500A>G (p.Asp2167Gly)
n.1829A>G
n.3439A>G
n.1875A>G
c.6440A>G (p.Asp2147Gly)
c.6368A>G (p.Asp2123Gly)
c.2561A>G
c.6395A>G (p.Asp2132Gly)
n.1867A>G
c.6467A>G (p.Asp2156Gly)
c.5519A>G (p.Asp1840Gly)
c.6695A>G (p.Asp2232Gly)
c.6584A>G (p.Asp2195Gly)
c.6506A>G (p.Asp2169Gly)
c.6158A>G (p.Asp2053Gly)
c.5783A>G (p.Asp1928Gly)
c.6590A>G (p.Asp2197Gly)
c.6692A>G (p.Asp2231Gly)
c.6668A>G (p.Asp2223Gly)
c.6635A>G (p.Asp2212Gly)
c.6611A>G (p.Asp2204Gly)
c.6566A>G (p.Asp2189Gly)
3g.53811360A>TCA353259701CACNA1Dc.6500A>T (p.Asp2167Val)
n.1829A>T
n.3439A>T
n.1875A>T
c.6440A>T (p.Asp2147Val)
c.6368A>T (p.Asp2123Val)
c.2561A>T
c.6395A>T (p.Asp2132Val)
n.1867A>T
c.6467A>T (p.Asp2156Val)
c.5519A>T (p.Asp1840Val)
c.6695A>T (p.Asp2232Val)
c.6584A>T (p.Asp2195Val)
c.6506A>T (p.Asp2169Val)
c.6158A>T (p.Asp2053Val)
c.5783A>T (p.Asp1928Val)
c.6590A>T (p.Asp2197Val)
c.6692A>T (p.Asp2231Val)
c.6668A>T (p.Asp2223Val)
c.6635A>T (p.Asp2212Val)
c.6611A>T (p.Asp2204Val)
c.6566A>T (p.Asp2189Val)
3g.53811361T>ACA353259703CACNA1Dc.6501T>A (p.Asp2167Glu)
n.1830T>A
n.3440T>A
n.1876T>A
c.6441T>A (p.Asp2147Glu)
c.6369T>A (p.Asp2123Glu)
c.2562T>A
c.6396T>A (p.Asp2132Glu)
n.1868T>A
c.6468T>A (p.Asp2156Glu)
c.5520T>A (p.Asp1840Glu)
c.6696T>A (p.Asp2232Glu)
c.6585T>A (p.Asp2195Glu)
c.6507T>A (p.Asp2169Glu)
c.6159T>A (p.Asp2053Glu)
c.5784T>A (p.Asp1928Glu)
c.6591T>A (p.Asp2197Glu)
c.6693T>A (p.Asp2231Glu)
c.6669T>A (p.Asp2223Glu)
c.6636T>A (p.Asp2212Glu)
c.6612T>A (p.Asp2204Glu)
c.6567T>A (p.Asp2189Glu)
 ClinVar
3g.53811361T>CCA433895871CACNA1Dc.6501T>C (p.Asp2167=)
n.1830T>C
n.3440T>C
n.1876T>C
c.6441T>C (p.Asp2147=)
c.6369T>C (p.Asp2123=)
c.2562T>C
c.6396T>C (p.Asp2132=)
n.1868T>C
c.6468T>C (p.Asp2156=)
c.5520T>C (p.Asp1840=)
c.6696T>C (p.Asp2232=)
c.6585T>C (p.Asp2195=)
c.6507T>C (p.Asp2169=)
c.6159T>C (p.Asp2053=)
c.5784T>C (p.Asp1928=)
c.6591T>C (p.Asp2197=)
c.6693T>C (p.Asp2231=)
c.6669T>C (p.Asp2223=)
c.6636T>C (p.Asp2212=)
c.6612T>C (p.Asp2204=)
c.6567T>C (p.Asp2189=)
3g.53811361T>GCA353259704CACNA1Dc.6501T>G (p.Asp2167Glu)
n.1830T>G
n.3440T>G
n.1876T>G
c.6441T>G (p.Asp2147Glu)
c.6369T>G (p.Asp2123Glu)
c.2562T>G
c.6396T>G (p.Asp2132Glu)
n.1868T>G
c.6468T>G (p.Asp2156Glu)
c.5520T>G (p.Asp1840Glu)
c.6696T>G (p.Asp2232Glu)
c.6585T>G (p.Asp2195Glu)
c.6507T>G (p.Asp2169Glu)
c.6159T>G (p.Asp2053Glu)
c.5784T>G (p.Asp1928Glu)
c.6591T>G (p.Asp2197Glu)
c.6693T>G (p.Asp2231Glu)
c.6669T>G (p.Asp2223Glu)
c.6636T>G (p.Asp2212Glu)
c.6612T>G (p.Asp2204Glu)
c.6567T>G (p.Asp2189Glu)
3g.53811361_53811364delinsTGAGCA1365489056CACNA1Dc.6501_6504delinsTGAG (p.Asp2167=)
n.1830_1833delinsTGAG
n.3440_3443delinsTGAG
n.1876_1879delinsTGAG
c.6441_6444delinsTGAG (p.Asp2147=)
c.6369_6372delinsTGAG (p.Asp2123=)
c.2562_2565delinsTGAG
c.6396_6399delinsTGAG (p.Asp2132=)
n.1868_1871delinsTGAG
c.6468_6471delinsTGAG (p.Asp2156=)
c.5520_5523delinsTGAG (p.Asp1840=)
c.6696_6699delinsTGAG (p.Asp2232=)
c.6585_6588delinsTGAG (p.Asp2195=)
c.6507_6510delinsTGAG (p.Asp2169=)
c.6159_6162delinsTGAG (p.Asp2053=)
c.5784_5787delinsTGAG (p.Asp1928=)
c.6591_6594delinsTGAG (p.Asp2197=)
c.6693_6696delinsTGAG (p.Asp2231=)
c.6669_6672delinsTGAG (p.Asp2223=)
c.6636_6639delinsTGAG (p.Asp2212=)
c.6612_6615delinsTGAG (p.Asp2204=)
c.6567_6570delinsTGAG (p.Asp2189=)
3g.53811362G>ACA353259707CACNA1Dc.6502G>A (p.Glu2168Lys)
n.1831G>A
n.3441G>A
n.1877G>A
c.6442G>A (p.Glu2148Lys)
c.6370G>A (p.Glu2124Lys)
c.2563G>A
c.6397G>A (p.Glu2133Lys)
n.1869G>A
c.6469G>A (p.Glu2157Lys)
c.5521G>A (p.Glu1841Lys)
c.6697G>A (p.Glu2233Lys)
c.6586G>A (p.Glu2196Lys)
c.6508G>A (p.Glu2170Lys)
c.6160G>A (p.Glu2054Lys)
c.5785G>A (p.Glu1929Lys)
c.6592G>A (p.Glu2198Lys)
c.6694G>A (p.Glu2232Lys)
c.6670G>A (p.Glu2224Lys)
c.6637G>A (p.Glu2213Lys)
c.6613G>A (p.Glu2205Lys)
c.6568G>A (p.Glu2190Lys)
 gnomAD v4
3g.53811362G>CCA353259710CACNA1Dc.6502G>C (p.Glu2168Gln)
n.1831G>C
n.3441G>C
n.1877G>C
c.6442G>C (p.Glu2148Gln)
c.6370G>C (p.Glu2124Gln)
c.2563G>C
c.6397G>C (p.Glu2133Gln)
n.1869G>C
c.6469G>C (p.Glu2157Gln)
c.5521G>C (p.Glu1841Gln)
c.6697G>C (p.Glu2233Gln)
c.6586G>C (p.Glu2196Gln)
c.6508G>C (p.Glu2170Gln)
c.6160G>C (p.Glu2054Gln)
c.5785G>C (p.Glu1929Gln)
c.6592G>C (p.Glu2198Gln)
c.6694G>C (p.Glu2232Gln)
c.6670G>C (p.Glu2224Gln)
c.6637G>C (p.Glu2213Gln)
c.6613G>C (p.Glu2205Gln)
c.6568G>C (p.Glu2190Gln)
3g.53811362G>TCA353259712CACNA1Dc.6502G>T (p.Glu2168Ter)
n.1831G>T
n.3441G>T
n.1877G>T
c.6442G>T (p.Glu2148Ter)
c.6370G>T (p.Glu2124Ter)
c.2563G>T
c.6397G>T (p.Glu2133Ter)
n.1869G>T
c.6469G>T (p.Glu2157Ter)
c.5521G>T (p.Glu1841Ter)
c.6697G>T (p.Glu2233Ter)
c.6586G>T (p.Glu2196Ter)
c.6508G>T (p.Glu2170Ter)
c.6160G>T (p.Glu2054Ter)
c.5785G>T (p.Glu1929Ter)
c.6592G>T (p.Glu2198Ter)
c.6694G>T (p.Glu2232Ter)
c.6670G>T (p.Glu2224Ter)
c.6637G>T (p.Glu2213Ter)
c.6613G>T (p.Glu2205Ter)
c.6568G>T (p.Glu2190Ter)
3g.53811367_53811369dupCA2666142678CACNA1Dc.6507_6509dup (p.Glu2169_Asp2170insGlu)
n.1836_1838dup
n.3446_3448dup
n.1882_1884dup
c.6447_6449dup (p.Glu2149_Asp2150insGlu)
c.6375_6377dup (p.Glu2125_Asp2126insGlu)
c.2568_2570dup
c.6402_6404dup (p.Glu2134_Asp2135insGlu)
n.1874_1876dup
c.6474_6476dup (p.Glu2158_Asp2159insGlu)
c.5526_5528dup (p.Glu1842_Asp1843insGlu)
c.6702_6704dup (p.Glu2234_Asp2235insGlu)
c.6591_6593dup (p.Glu2197_Asp2198insGlu)
c.6513_6515dup (p.Glu2171_Asp2172insGlu)
c.6165_6167dup (p.Glu2055_Asp2056insGlu)
c.5790_5792dup (p.Glu1930_Asp1931insGlu)
c.6597_6599dup (p.Glu2199_Asp2200insGlu)
c.6699_6701dup (p.Glu2233_Asp2234insGlu)
c.6675_6677dup (p.Glu2225_Asp2226insGlu)
c.6642_6644dup (p.Glu2214_Asp2215insGlu)
c.6618_6620dup (p.Glu2206_Asp2207insGlu)
c.6573_6575dup (p.Glu2191_Asp2192insGlu)
 gnomAD v4
3g.53811367_53811369delCA543530601CACNA1Dc.6507_6509del (p.Glu2169del)
n.1836_1838del
n.3446_3448del
n.1882_1884del
c.6447_6449del (p.Glu2149del)
c.6375_6377del (p.Glu2125del)
c.2568_2570del
c.6402_6404del (p.Glu2134del)
n.1874_1876del
c.6474_6476del (p.Glu2158del)
c.5526_5528del (p.Glu1842del)
c.6702_6704del (p.Glu2234del)
c.6591_6593del (p.Glu2197del)
c.6513_6515del (p.Glu2171del)
c.6165_6167del (p.Glu2055del)
c.5790_5792del (p.Glu1930del)
c.6597_6599del (p.Glu2199del)
c.6699_6701del (p.Glu2233del)
c.6675_6677del (p.Glu2225del)
c.6642_6644del (p.Glu2214del)
c.6618_6620del (p.Glu2206del)
c.6573_6575del (p.Glu2191del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53811363A>CCA353259715CACNA1Dc.6503A>C (p.Glu2168Ala)
n.1832A>C
n.3442A>C
n.1878A>C
c.6443A>C (p.Glu2148Ala)
c.6371A>C (p.Glu2124Ala)
c.2564A>C
c.6398A>C (p.Glu2133Ala)
n.1870A>C
c.6470A>C (p.Glu2157Ala)
c.5522A>C (p.Glu1841Ala)
c.6698A>C (p.Glu2233Ala)
c.6587A>C (p.Glu2196Ala)
c.6509A>C (p.Glu2170Ala)
c.6161A>C (p.Glu2054Ala)
c.5786A>C (p.Glu1929Ala)
c.6593A>C (p.Glu2198Ala)
c.6695A>C (p.Glu2232Ala)
c.6671A>C (p.Glu2224Ala)
c.6638A>C (p.Glu2213Ala)
c.6614A>C (p.Glu2205Ala)
c.6569A>C (p.Glu2190Ala)
3g.53811363A>GCA353259717CACNA1Dc.6503A>G (p.Glu2168Gly)
n.1832A>G
n.3442A>G
n.1878A>G
c.6443A>G (p.Glu2148Gly)
c.6371A>G (p.Glu2124Gly)
c.2564A>G
c.6398A>G (p.Glu2133Gly)
n.1870A>G
c.6470A>G (p.Glu2157Gly)
c.5522A>G (p.Glu1841Gly)
c.6698A>G (p.Glu2233Gly)
c.6587A>G (p.Glu2196Gly)
c.6509A>G (p.Glu2170Gly)
c.6161A>G (p.Glu2054Gly)
c.5786A>G (p.Glu1929Gly)
c.6593A>G (p.Glu2198Gly)
c.6695A>G (p.Glu2232Gly)
c.6671A>G (p.Glu2224Gly)
c.6638A>G (p.Glu2213Gly)
c.6614A>G (p.Glu2205Gly)
c.6569A>G (p.Glu2190Gly)
3g.53811363A>TCA353259720CACNA1Dc.6503A>T (p.Glu2168Val)
n.1832A>T
n.3442A>T
n.1878A>T
c.6443A>T (p.Glu2148Val)
c.6371A>T (p.Glu2124Val)
c.2564A>T
c.6398A>T (p.Glu2133Val)
n.1870A>T
c.6470A>T (p.Glu2157Val)
c.5522A>T (p.Glu1841Val)
c.6698A>T (p.Glu2233Val)
c.6587A>T (p.Glu2196Val)
c.6509A>T (p.Glu2170Val)
c.6161A>T (p.Glu2054Val)
c.5786A>T (p.Glu1929Val)
c.6593A>T (p.Glu2198Val)
c.6695A>T (p.Glu2232Val)
c.6671A>T (p.Glu2224Val)
c.6638A>T (p.Glu2213Val)
c.6614A>T (p.Glu2205Val)
c.6569A>T (p.Glu2190Val)
3g.53811364G>ACA2455451CACNA1Dc.6504G>A (p.Glu2168=)
n.1833G>A
n.3443G>A
n.1879G>A
c.6444G>A (p.Glu2148=)
c.6372G>A (p.Glu2124=)
c.2565G>A
c.6399G>A (p.Glu2133=)
n.1871G>A
c.6471G>A (p.Glu2157=)
c.5523G>A (p.Glu1841=)
c.6699G>A (p.Glu2233=)
c.6588G>A (p.Glu2196=)
c.6510G>A (p.Glu2170=)
c.6162G>A (p.Glu2054=)
c.5787G>A (p.Glu1929=)
c.6594G>A (p.Glu2198=)
c.6696G>A (p.Glu2232=)
c.6672G>A (p.Glu2224=)
c.6639G>A (p.Glu2213=)
c.6615G>A (p.Glu2205=)
c.6570G>A (p.Glu2190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811364G>CCA353259726CACNA1Dc.6504G>C (p.Glu2168Asp)
n.1833G>C
n.3443G>C
n.1879G>C
c.6444G>C (p.Glu2148Asp)
c.6372G>C (p.Glu2124Asp)
c.2565G>C
c.6399G>C (p.Glu2133Asp)
n.1871G>C
c.6471G>C (p.Glu2157Asp)
c.5523G>C (p.Glu1841Asp)
c.6699G>C (p.Glu2233Asp)
c.6588G>C (p.Glu2196Asp)
c.6510G>C (p.Glu2170Asp)
c.6162G>C (p.Glu2054Asp)
c.5787G>C (p.Glu1929Asp)
c.6594G>C (p.Glu2198Asp)
c.6696G>C (p.Glu2232Asp)
c.6672G>C (p.Glu2224Asp)
c.6639G>C (p.Glu2213Asp)
c.6615G>C (p.Glu2205Asp)
c.6570G>C (p.Glu2190Asp)
3g.53811364G=CA1365489057CACNA1Dc.6504G= (p.Glu2168=)
n.1833G=
n.3443G=
n.1879G=
c.6444G= (p.Glu2148=)
c.6372G= (p.Glu2124=)
c.2565G=
c.6399G= (p.Glu2133=)
n.1871G=
c.6471G= (p.Glu2157=)
c.5523G= (p.Glu1841=)
c.6699G= (p.Glu2233=)
c.6588G= (p.Glu2196=)
c.6510G= (p.Glu2170=)
c.6162G= (p.Glu2054=)
c.5787G= (p.Glu1929=)
c.6594G= (p.Glu2198=)
c.6696G= (p.Glu2232=)
c.6672G= (p.Glu2224=)
c.6639G= (p.Glu2213=)
c.6615G= (p.Glu2205=)
c.6570G= (p.Glu2190=)
3g.53811364G>TCA353259723CACNA1Dc.6504G>T (p.Glu2168Asp)
n.1833G>T
n.3443G>T
n.1879G>T
c.6444G>T (p.Glu2148Asp)
c.6372G>T (p.Glu2124Asp)
c.2565G>T
c.6399G>T (p.Glu2133Asp)
n.1871G>T
c.6471G>T (p.Glu2157Asp)
c.5523G>T (p.Glu1841Asp)
c.6699G>T (p.Glu2233Asp)
c.6588G>T (p.Glu2196Asp)
c.6510G>T (p.Glu2170Asp)
c.6162G>T (p.Glu2054Asp)
c.5787G>T (p.Glu1929Asp)
c.6594G>T (p.Glu2198Asp)
c.6696G>T (p.Glu2232Asp)
c.6672G>T (p.Glu2224Asp)
c.6639G>T (p.Glu2213Asp)
c.6615G>T (p.Glu2205Asp)
c.6570G>T (p.Glu2190Asp)
3g.53811365G>ACA353259731CACNA1Dc.6505G>A (p.Glu2169Lys)
n.1834G>A
n.3444G>A
n.1880G>A
c.6445G>A (p.Glu2149Lys)
c.6373G>A (p.Glu2125Lys)
c.2566G>A
c.6400G>A (p.Glu2134Lys)
n.1872G>A
c.6472G>A (p.Glu2158Lys)
c.5524G>A (p.Glu1842Lys)
c.6700G>A (p.Glu2234Lys)
c.6589G>A (p.Glu2197Lys)
c.6511G>A (p.Glu2171Lys)
c.6163G>A (p.Glu2055Lys)
c.5788G>A (p.Glu1930Lys)
c.6595G>A (p.Glu2199Lys)
c.6697G>A (p.Glu2233Lys)
c.6673G>A (p.Glu2225Lys)
c.6640G>A (p.Glu2214Lys)
c.6616G>A (p.Glu2206Lys)
c.6571G>A (p.Glu2191Lys)
 gnomAD v4
3g.53811365G>CCA353259733CACNA1Dc.6505G>C (p.Glu2169Gln)
n.1834G>C
n.3444G>C
n.1880G>C
c.6445G>C (p.Glu2149Gln)
c.6373G>C (p.Glu2125Gln)
c.2566G>C
c.6400G>C (p.Glu2134Gln)
n.1872G>C
c.6472G>C (p.Glu2158Gln)
c.5524G>C (p.Glu1842Gln)
c.6700G>C (p.Glu2234Gln)
c.6589G>C (p.Glu2197Gln)
c.6511G>C (p.Glu2171Gln)
c.6163G>C (p.Glu2055Gln)
c.5788G>C (p.Glu1930Gln)
c.6595G>C (p.Glu2199Gln)
c.6697G>C (p.Glu2233Gln)
c.6673G>C (p.Glu2225Gln)
c.6640G>C (p.Glu2214Gln)
c.6616G>C (p.Glu2206Gln)
c.6571G>C (p.Glu2191Gln)
 gnomAD v4
3g.53811365G>TCA353259735CACNA1Dc.6505G>T (p.Glu2169Ter)
n.1834G>T
n.3444G>T
n.1880G>T
c.6445G>T (p.Glu2149Ter)
c.6373G>T (p.Glu2125Ter)
c.2566G>T
c.6400G>T (p.Glu2134Ter)
n.1872G>T
c.6472G>T (p.Glu2158Ter)
c.5524G>T (p.Glu1842Ter)
c.6700G>T (p.Glu2234Ter)
c.6589G>T (p.Glu2197Ter)
c.6511G>T (p.Glu2171Ter)
c.6163G>T (p.Glu2055Ter)
c.5788G>T (p.Glu1930Ter)
c.6595G>T (p.Glu2199Ter)
c.6697G>T (p.Glu2233Ter)
c.6673G>T (p.Glu2225Ter)
c.6640G>T (p.Glu2214Ter)
c.6616G>T (p.Glu2206Ter)
c.6571G>T (p.Glu2191Ter)
3g.53811366A>CCA353259738CACNA1Dc.6506A>C (p.Glu2169Ala)
n.1835A>C
n.3445A>C
n.1881A>C
c.6446A>C (p.Glu2149Ala)
c.6374A>C (p.Glu2125Ala)
c.2567A>C
c.6401A>C (p.Glu2134Ala)
n.1873A>C
c.6473A>C (p.Glu2158Ala)
c.5525A>C (p.Glu1842Ala)
c.6701A>C (p.Glu2234Ala)
c.6590A>C (p.Glu2197Ala)
c.6512A>C (p.Glu2171Ala)
c.6164A>C (p.Glu2055Ala)
c.5789A>C (p.Glu1930Ala)
c.6596A>C (p.Glu2199Ala)
c.6698A>C (p.Glu2233Ala)
c.6674A>C (p.Glu2225Ala)
c.6641A>C (p.Glu2214Ala)
c.6617A>C (p.Glu2206Ala)
c.6572A>C (p.Glu2191Ala)
3g.53811366A>GCA353259740CACNA1Dc.6506A>G (p.Glu2169Gly)
n.1835A>G
n.3445A>G
n.1881A>G
c.6446A>G (p.Glu2149Gly)
c.6374A>G (p.Glu2125Gly)
c.2567A>G
c.6401A>G (p.Glu2134Gly)
n.1873A>G
c.6473A>G (p.Glu2158Gly)
c.5525A>G (p.Glu1842Gly)
c.6701A>G (p.Glu2234Gly)
c.6590A>G (p.Glu2197Gly)
c.6512A>G (p.Glu2171Gly)
c.6164A>G (p.Glu2055Gly)
c.5789A>G (p.Glu1930Gly)
c.6596A>G (p.Glu2199Gly)
c.6698A>G (p.Glu2233Gly)
c.6674A>G (p.Glu2225Gly)
c.6641A>G (p.Glu2214Gly)
c.6617A>G (p.Glu2206Gly)
c.6572A>G (p.Glu2191Gly)
3g.53811366A>TCA353259743CACNA1Dc.6506A>T (p.Glu2169Val)
n.1835A>T
n.3445A>T
n.1881A>T
c.6446A>T (p.Glu2149Val)
c.6374A>T (p.Glu2125Val)
c.2567A>T
c.6401A>T (p.Glu2134Val)
n.1873A>T
c.6473A>T (p.Glu2158Val)
c.5525A>T (p.Glu1842Val)
c.6701A>T (p.Glu2234Val)
c.6590A>T (p.Glu2197Val)
c.6512A>T (p.Glu2171Val)
c.6164A>T (p.Glu2055Val)
c.5789A>T (p.Glu1930Val)
c.6596A>T (p.Glu2199Val)
c.6698A>T (p.Glu2233Val)
c.6674A>T (p.Glu2225Val)
c.6641A>T (p.Glu2214Val)
c.6617A>T (p.Glu2206Val)
c.6572A>T (p.Glu2191Val)
3g.53811367G>ACA433895882CACNA1Dc.6507G>A (p.Glu2169=)
n.1836G>A
n.3446G>A
n.1882G>A
c.6447G>A (p.Glu2149=)
c.6375G>A (p.Glu2125=)
c.2568G>A
c.6402G>A (p.Glu2134=)
n.1874G>A
c.6474G>A (p.Glu2158=)
c.5526G>A (p.Glu1842=)
c.6702G>A (p.Glu2234=)
c.6591G>A (p.Glu2197=)
c.6513G>A (p.Glu2171=)
c.6165G>A (p.Glu2055=)
c.5790G>A (p.Glu1930=)
c.6597G>A (p.Glu2199=)
c.6699G>A (p.Glu2233=)
c.6675G>A (p.Glu2225=)
c.6642G>A (p.Glu2214=)
c.6618G>A (p.Glu2206=)
c.6573G>A (p.Glu2191=)
 gnomAD v4
3g.53811367G>CCA353259746CACNA1Dc.6507G>C (p.Glu2169Asp)
n.1836G>C
n.3446G>C
n.1882G>C
c.6447G>C (p.Glu2149Asp)
c.6375G>C (p.Glu2125Asp)
c.2568G>C
c.6402G>C (p.Glu2134Asp)
n.1874G>C
c.6474G>C (p.Glu2158Asp)
c.5526G>C (p.Glu1842Asp)
c.6702G>C (p.Glu2234Asp)
c.6591G>C (p.Glu2197Asp)
c.6513G>C (p.Glu2171Asp)
c.6165G>C (p.Glu2055Asp)
c.5790G>C (p.Glu1930Asp)
c.6597G>C (p.Glu2199Asp)
c.6699G>C (p.Glu2233Asp)
c.6675G>C (p.Glu2225Asp)
c.6642G>C (p.Glu2214Asp)
c.6618G>C (p.Glu2206Asp)
c.6573G>C (p.Glu2191Asp)
 COSMIC
3g.53811367G>TCA353259748CACNA1Dc.6507G>T (p.Glu2169Asp)
n.1836G>T
n.3446G>T
n.1882G>T
c.6447G>T (p.Glu2149Asp)
c.6375G>T (p.Glu2125Asp)
c.2568G>T
c.6402G>T (p.Glu2134Asp)
n.1874G>T
c.6474G>T (p.Glu2158Asp)
c.5526G>T (p.Glu1842Asp)
c.6702G>T (p.Glu2234Asp)
c.6591G>T (p.Glu2197Asp)
c.6513G>T (p.Glu2171Asp)
c.6165G>T (p.Glu2055Asp)
c.5790G>T (p.Glu1930Asp)
c.6597G>T (p.Glu2199Asp)
c.6699G>T (p.Glu2233Asp)
c.6675G>T (p.Glu2225Asp)
c.6642G>T (p.Glu2214Asp)
c.6618G>T (p.Glu2206Asp)
c.6573G>T (p.Glu2191Asp)
 COSMIC COSMIC
3g.53811368G>ACA353259751CACNA1Dc.6508G>A (p.Asp2170Asn)
n.1837G>A
n.3447G>A
n.1883G>A
c.6448G>A (p.Asp2150Asn)
c.6376G>A (p.Asp2126Asn)
c.2569G>A
c.6403G>A (p.Asp2135Asn)
n.1875G>A
c.6475G>A (p.Asp2159Asn)
c.5527G>A (p.Asp1843Asn)
c.6703G>A (p.Asp2235Asn)
c.6592G>A (p.Asp2198Asn)
c.6514G>A (p.Asp2172Asn)
c.6166G>A (p.Asp2056Asn)
c.5791G>A (p.Asp1931Asn)
c.6598G>A (p.Asp2200Asn)
c.6700G>A (p.Asp2234Asn)
c.6676G>A (p.Asp2226Asn)
c.6643G>A (p.Asp2215Asn)
c.6619G>A (p.Asp2207Asn)
c.6574G>A (p.Asp2192Asn)
 gnomAD v4
3g.53811368G>CCA353259753CACNA1Dc.6508G>C (p.Asp2170His)
n.1837G>C
n.3447G>C
n.1883G>C
c.6448G>C (p.Asp2150His)
c.6376G>C (p.Asp2126His)
c.2569G>C
c.6403G>C (p.Asp2135His)
n.1875G>C
c.6475G>C (p.Asp2159His)
c.5527G>C (p.Asp1843His)
c.6703G>C (p.Asp2235His)
c.6592G>C (p.Asp2198His)
c.6514G>C (p.Asp2172His)
c.6166G>C (p.Asp2056His)
c.5791G>C (p.Asp1931His)
c.6598G>C (p.Asp2200His)
c.6700G>C (p.Asp2234His)
c.6676G>C (p.Asp2226His)
c.6643G>C (p.Asp2215His)
c.6619G>C (p.Asp2207His)
c.6574G>C (p.Asp2192His)
3g.53811368G>TCA353259756CACNA1Dc.6508G>T (p.Asp2170Tyr)
n.1837G>T
n.3447G>T
n.1883G>T
c.6448G>T (p.Asp2150Tyr)
c.6376G>T (p.Asp2126Tyr)
c.2569G>T
c.6403G>T (p.Asp2135Tyr)
n.1875G>T
c.6475G>T (p.Asp2159Tyr)
c.5527G>T (p.Asp1843Tyr)
c.6703G>T (p.Asp2235Tyr)
c.6592G>T (p.Asp2198Tyr)
c.6514G>T (p.Asp2172Tyr)
c.6166G>T (p.Asp2056Tyr)
c.5791G>T (p.Asp1931Tyr)
c.6598G>T (p.Asp2200Tyr)
c.6700G>T (p.Asp2234Tyr)
c.6676G>T (p.Asp2226Tyr)
c.6643G>T (p.Asp2215Tyr)
c.6619G>T (p.Asp2207Tyr)
c.6574G>T (p.Asp2192Tyr)
3g.53811369A>CCA353259764CACNA1Dc.6509A>C (p.Asp2170Ala)
n.1838A>C
n.3448A>C
n.1884A>C
c.6449A>C (p.Asp2150Ala)
c.6377A>C (p.Asp2126Ala)
c.2570A>C
c.6404A>C (p.Asp2135Ala)
n.1876A>C
c.6476A>C (p.Asp2159Ala)
c.5528A>C (p.Asp1843Ala)
c.6704A>C (p.Asp2235Ala)
c.6593A>C (p.Asp2198Ala)
c.6515A>C (p.Asp2172Ala)
c.6167A>C (p.Asp2056Ala)
c.5792A>C (p.Asp1931Ala)
c.6599A>C (p.Asp2200Ala)
c.6701A>C (p.Asp2234Ala)
c.6677A>C (p.Asp2226Ala)
c.6644A>C (p.Asp2215Ala)
c.6620A>C (p.Asp2207Ala)
c.6575A>C (p.Asp2192Ala)
3g.53811369A>GCA353259762CACNA1Dc.6509A>G (p.Asp2170Gly)
n.1838A>G
n.3448A>G
n.1884A>G
c.6449A>G (p.Asp2150Gly)
c.6377A>G (p.Asp2126Gly)
c.2570A>G
c.6404A>G (p.Asp2135Gly)
n.1876A>G
c.6476A>G (p.Asp2159Gly)
c.5528A>G (p.Asp1843Gly)
c.6704A>G (p.Asp2235Gly)
c.6593A>G (p.Asp2198Gly)
c.6515A>G (p.Asp2172Gly)
c.6167A>G (p.Asp2056Gly)
c.5792A>G (p.Asp1931Gly)
c.6599A>G (p.Asp2200Gly)
c.6701A>G (p.Asp2234Gly)
c.6677A>G (p.Asp2226Gly)
c.6644A>G (p.Asp2215Gly)
c.6620A>G (p.Asp2207Gly)
c.6575A>G (p.Asp2192Gly)
3g.53811369A>TCA353259759CACNA1Dc.6509A>T (p.Asp2170Val)
n.1838A>T
n.3448A>T
n.1884A>T
c.6449A>T (p.Asp2150Val)
c.6377A>T (p.Asp2126Val)
c.2570A>T
c.6404A>T (p.Asp2135Val)
n.1876A>T
c.6476A>T (p.Asp2159Val)
c.5528A>T (p.Asp1843Val)
c.6704A>T (p.Asp2235Val)
c.6593A>T (p.Asp2198Val)
c.6515A>T (p.Asp2172Val)
c.6167A>T (p.Asp2056Val)
c.5792A>T (p.Asp1931Val)
c.6599A>T (p.Asp2200Val)
c.6701A>T (p.Asp2234Val)
c.6677A>T (p.Asp2226Val)
c.6644A>T (p.Asp2215Val)
c.6620A>T (p.Asp2207Val)
c.6575A>T (p.Asp2192Val)
3g.53811370C>ACA353259768CACNA1Dc.6510C>A (p.Asp2170Glu)
n.1839C>A
n.3449C>A
n.1885C>A
c.6450C>A (p.Asp2150Glu)
c.6378C>A (p.Asp2126Glu)
c.2571C>A
c.6405C>A (p.Asp2135Glu)
n.1877C>A
c.6477C>A (p.Asp2159Glu)
c.5529C>A (p.Asp1843Glu)
c.6705C>A (p.Asp2235Glu)
c.6594C>A (p.Asp2198Glu)
c.6516C>A (p.Asp2172Glu)
c.6168C>A (p.Asp2056Glu)
c.5793C>A (p.Asp1931Glu)
c.6600C>A (p.Asp2200Glu)
c.6702C>A (p.Asp2234Glu)
c.6678C>A (p.Asp2226Glu)
c.6645C>A (p.Asp2215Glu)
c.6621C>A (p.Asp2207Glu)
c.6576C>A (p.Asp2192Glu)
3g.53811370C>GCA353259771CACNA1Dc.6510C>G (p.Asp2170Glu)
n.1839C>G
n.3449C>G
n.1885C>G
c.6450C>G (p.Asp2150Glu)
c.6378C>G (p.Asp2126Glu)
c.2571C>G
c.6405C>G (p.Asp2135Glu)
n.1877C>G
c.6477C>G (p.Asp2159Glu)
c.5529C>G (p.Asp1843Glu)
c.6705C>G (p.Asp2235Glu)
c.6594C>G (p.Asp2198Glu)
c.6516C>G (p.Asp2172Glu)
c.6168C>G (p.Asp2056Glu)
c.5793C>G (p.Asp1931Glu)
c.6600C>G (p.Asp2200Glu)
c.6702C>G (p.Asp2234Glu)
c.6678C>G (p.Asp2226Glu)
c.6645C>G (p.Asp2215Glu)
c.6621C>G (p.Asp2207Glu)
c.6576C>G (p.Asp2192Glu)
3g.53811370C>TCA433895890CACNA1Dc.6510C>T (p.Asp2170=)
n.1839C>T
n.3449C>T
n.1885C>T
c.6450C>T (p.Asp2150=)
c.6378C>T (p.Asp2126=)
c.2571C>T
c.6405C>T (p.Asp2135=)
n.1877C>T
c.6477C>T (p.Asp2159=)
c.5529C>T (p.Asp1843=)
c.6705C>T (p.Asp2235=)
c.6594C>T (p.Asp2198=)
c.6516C>T (p.Asp2172=)
c.6168C>T (p.Asp2056=)
c.5793C>T (p.Asp1931=)
c.6600C>T (p.Asp2200=)
c.6702C>T (p.Asp2234=)
c.6678C>T (p.Asp2226=)
c.6645C>T (p.Asp2215=)
c.6621C>T (p.Asp2207=)
c.6576C>T (p.Asp2192=)
 gnomAD v4 COSMIC COSMIC
3g.53811371C>ACA353259774CACNA1Dc.6511C>A (p.Leu2171Met)
n.1840C>A
n.3450C>A
n.1886C>A
c.6451C>A (p.Leu2151Met)
c.6379C>A (p.Leu2127Met)
c.2572C>A
c.6406C>A (p.Leu2136Met)
n.1878C>A
c.6478C>A (p.Leu2160Met)
c.5530C>A (p.Leu1844Met)
c.6706C>A (p.Leu2236Met)
c.6595C>A (p.Leu2199Met)
c.6517C>A (p.Leu2173Met)
c.6169C>A (p.Leu2057Met)
c.5794C>A (p.Leu1932Met)
c.6601C>A (p.Leu2201Met)
c.6703C>A (p.Leu2235Met)
c.6679C>A (p.Leu2227Met)
c.6646C>A (p.Leu2216Met)
c.6622C>A (p.Leu2208Met)
c.6577C>A (p.Leu2193Met)
3g.53811371C>GCA353259776CACNA1Dc.6511C>G (p.Leu2171Val)
n.1840C>G
n.3450C>G
n.1886C>G
c.6451C>G (p.Leu2151Val)
c.6379C>G (p.Leu2127Val)
c.2572C>G
c.6406C>G (p.Leu2136Val)
n.1878C>G
c.6478C>G (p.Leu2160Val)
c.5530C>G (p.Leu1844Val)
c.6706C>G (p.Leu2236Val)
c.6595C>G (p.Leu2199Val)
c.6517C>G (p.Leu2173Val)
c.6169C>G (p.Leu2057Val)
c.5794C>G (p.Leu1932Val)
c.6601C>G (p.Leu2201Val)
c.6703C>G (p.Leu2235Val)
c.6679C>G (p.Leu2227Val)
c.6646C>G (p.Leu2216Val)
c.6622C>G (p.Leu2208Val)
c.6577C>G (p.Leu2193Val)
3g.53811371C>TCA433895892CACNA1Dc.6511C>T (p.Leu2171=)
n.1840C>T
n.3450C>T
n.1886C>T
c.6451C>T (p.Leu2151=)
c.6379C>T (p.Leu2127=)
c.2572C>T
c.6406C>T (p.Leu2136=)
n.1878C>T
c.6478C>T (p.Leu2160=)
c.5530C>T (p.Leu1844=)
c.6706C>T (p.Leu2236=)
c.6595C>T (p.Leu2199=)
c.6517C>T (p.Leu2173=)
c.6169C>T (p.Leu2057=)
c.5794C>T (p.Leu1932=)
c.6601C>T (p.Leu2201=)
c.6703C>T (p.Leu2235=)
c.6679C>T (p.Leu2227=)
c.6646C>T (p.Leu2216=)
c.6622C>T (p.Leu2208=)
c.6577C>T (p.Leu2193=)
 COSMIC COSMIC
3g.53811372T>ACA353259779CACNA1Dc.6512T>A (p.Leu2171Gln)
n.1841T>A
n.3451T>A
n.1887T>A
c.6452T>A (p.Leu2151Gln)
c.6380T>A (p.Leu2127Gln)
c.2573T>A
c.6407T>A (p.Leu2136Gln)
n.1879T>A
c.6479T>A (p.Leu2160Gln)
c.5531T>A (p.Leu1844Gln)
c.6707T>A (p.Leu2236Gln)
c.6596T>A (p.Leu2199Gln)
c.6518T>A (p.Leu2173Gln)
c.6170T>A (p.Leu2057Gln)
c.5795T>A (p.Leu1932Gln)
c.6602T>A (p.Leu2201Gln)
c.6704T>A (p.Leu2235Gln)
c.6680T>A (p.Leu2227Gln)
c.6647T>A (p.Leu2216Gln)
c.6623T>A (p.Leu2208Gln)
c.6578T>A (p.Leu2193Gln)
3g.53811372T>CCA353259781CACNA1Dc.6512T>C (p.Leu2171Pro)
n.1841T>C
n.3451T>C
n.1887T>C
c.6452T>C (p.Leu2151Pro)
c.6380T>C (p.Leu2127Pro)
c.2573T>C
c.6407T>C (p.Leu2136Pro)
n.1879T>C
c.6479T>C (p.Leu2160Pro)
c.5531T>C (p.Leu1844Pro)
c.6707T>C (p.Leu2236Pro)
c.6596T>C (p.Leu2199Pro)
c.6518T>C (p.Leu2173Pro)
c.6170T>C (p.Leu2057Pro)
c.5795T>C (p.Leu1932Pro)
c.6602T>C (p.Leu2201Pro)
c.6704T>C (p.Leu2235Pro)
c.6680T>C (p.Leu2227Pro)
c.6647T>C (p.Leu2216Pro)
c.6623T>C (p.Leu2208Pro)
c.6578T>C (p.Leu2193Pro)
 gnomAD v4
3g.53811372T>GCA353259783CACNA1Dc.6512T>G (p.Leu2171Arg)
n.1841T>G
n.3451T>G
n.1887T>G
c.6452T>G (p.Leu2151Arg)
c.6380T>G (p.Leu2127Arg)
c.2573T>G
c.6407T>G (p.Leu2136Arg)
n.1879T>G
c.6479T>G (p.Leu2160Arg)
c.5531T>G (p.Leu1844Arg)
c.6707T>G (p.Leu2236Arg)
c.6596T>G (p.Leu2199Arg)
c.6518T>G (p.Leu2173Arg)
c.6170T>G (p.Leu2057Arg)
c.5795T>G (p.Leu1932Arg)
c.6602T>G (p.Leu2201Arg)
c.6704T>G (p.Leu2235Arg)
c.6680T>G (p.Leu2227Arg)
c.6647T>G (p.Leu2216Arg)
c.6623T>G (p.Leu2208Arg)
c.6578T>G (p.Leu2193Arg)
3g.53811373G>ACA433895895CACNA1Dc.6513G>A (p.Leu2171=)
n.1842G>A
n.3452G>A
n.1888G>A
c.6453G>A (p.Leu2151=)
c.6381G>A (p.Leu2127=)
c.2574G>A
c.6408G>A (p.Leu2136=)
n.1880G>A
c.6480G>A (p.Leu2160=)
c.5532G>A (p.Leu1844=)
c.6708G>A (p.Leu2236=)
c.6597G>A (p.Leu2199=)
c.6519G>A (p.Leu2173=)
c.6171G>A (p.Leu2057=)
c.5796G>A (p.Leu1932=)
c.6603G>A (p.Leu2201=)
c.6705G>A (p.Leu2235=)
c.6681G>A (p.Leu2227=)
c.6648G>A (p.Leu2216=)
c.6624G>A (p.Leu2208=)
c.6579G>A (p.Leu2193=)
3g.53811373G>CCA433895896CACNA1Dc.6513G>C (p.Leu2171=)
n.1842G>C
n.3452G>C
n.1888G>C
c.6453G>C (p.Leu2151=)
c.6381G>C (p.Leu2127=)
c.2574G>C
c.6408G>C (p.Leu2136=)
n.1880G>C
c.6480G>C (p.Leu2160=)
c.5532G>C (p.Leu1844=)
c.6708G>C (p.Leu2236=)
c.6597G>C (p.Leu2199=)
c.6519G>C (p.Leu2173=)
c.6171G>C (p.Leu2057=)
c.5796G>C (p.Leu1932=)
c.6603G>C (p.Leu2201=)
c.6705G>C (p.Leu2235=)
c.6681G>C (p.Leu2227=)
c.6648G>C (p.Leu2216=)
c.6624G>C (p.Leu2208=)
c.6579G>C (p.Leu2193=)
3g.53811373G>TCA433895898CACNA1Dc.6513G>T (p.Leu2171=)
n.1842G>T
n.3452G>T
n.1888G>T
c.6453G>T (p.Leu2151=)
c.6381G>T (p.Leu2127=)
c.2574G>T
c.6408G>T (p.Leu2136=)
n.1880G>T
c.6480G>T (p.Leu2160=)
c.5532G>T (p.Leu1844=)
c.6708G>T (p.Leu2236=)
c.6597G>T (p.Leu2199=)
c.6519G>T (p.Leu2173=)
c.6171G>T (p.Leu2057=)
c.5796G>T (p.Leu1932=)
c.6603G>T (p.Leu2201=)
c.6705G>T (p.Leu2235=)
c.6681G>T (p.Leu2227=)
c.6648G>T (p.Leu2216=)
c.6624G>T (p.Leu2208=)
c.6579G>T (p.Leu2193=)
3g.53811374G>ACA353259787CACNA1Dc.6514G>A (p.Ala2172Thr)
n.1843G>A
n.3453G>A
n.1889G>A
c.6454G>A (p.Ala2152Thr)
c.6382G>A (p.Ala2128Thr)
c.2575G>A
c.6409G>A (p.Ala2137Thr)
n.1881G>A
c.6481G>A (p.Ala2161Thr)
c.5533G>A (p.Ala1845Thr)
c.6709G>A (p.Ala2237Thr)
c.6598G>A (p.Ala2200Thr)
c.6520G>A (p.Ala2174Thr)
c.6172G>A (p.Ala2058Thr)
c.5797G>A (p.Ala1933Thr)
c.6604G>A (p.Ala2202Thr)
c.6706G>A (p.Ala2236Thr)
c.6682G>A (p.Ala2228Thr)
c.6649G>A (p.Ala2217Thr)
c.6625G>A (p.Ala2209Thr)
c.6580G>A (p.Ala2194Thr)
3g.53811374G>CCA353259791CACNA1Dc.6514G>C (p.Ala2172Pro)
n.1843G>C
n.3453G>C
n.1889G>C
c.6454G>C (p.Ala2152Pro)
c.6382G>C (p.Ala2128Pro)
c.2575G>C
c.6409G>C (p.Ala2137Pro)
n.1881G>C
c.6481G>C (p.Ala2161Pro)
c.5533G>C (p.Ala1845Pro)
c.6709G>C (p.Ala2237Pro)
c.6598G>C (p.Ala2200Pro)
c.6520G>C (p.Ala2174Pro)
c.6172G>C (p.Ala2058Pro)
c.5797G>C (p.Ala1933Pro)
c.6604G>C (p.Ala2202Pro)
c.6706G>C (p.Ala2236Pro)
c.6682G>C (p.Ala2228Pro)
c.6649G>C (p.Ala2217Pro)
c.6625G>C (p.Ala2209Pro)
c.6580G>C (p.Ala2194Pro)
3g.53811374G>TCA353259789CACNA1Dc.6514G>T (p.Ala2172Ser)
n.1843G>T
n.3453G>T
n.1889G>T
c.6454G>T (p.Ala2152Ser)
c.6382G>T (p.Ala2128Ser)
c.2575G>T
c.6409G>T (p.Ala2137Ser)
n.1881G>T
c.6481G>T (p.Ala2161Ser)
c.5533G>T (p.Ala1845Ser)
c.6709G>T (p.Ala2237Ser)
c.6598G>T (p.Ala2200Ser)
c.6520G>T (p.Ala2174Ser)
c.6172G>T (p.Ala2058Ser)
c.5797G>T (p.Ala1933Ser)
c.6604G>T (p.Ala2202Ser)
c.6706G>T (p.Ala2236Ser)
c.6682G>T (p.Ala2228Ser)
c.6649G>T (p.Ala2217Ser)
c.6625G>T (p.Ala2209Ser)
c.6580G>T (p.Ala2194Ser)
 gnomAD v4
3g.53811375C>ACA353259794CACNA1Dc.6515C>A (p.Ala2172Glu)
n.1844C>A
n.3454C>A
n.1890C>A
c.6455C>A (p.Ala2152Glu)
c.6383C>A (p.Ala2128Glu)
c.2576C>A
c.6410C>A (p.Ala2137Glu)
n.1882C>A
c.6482C>A (p.Ala2161Glu)
c.5534C>A (p.Ala1845Glu)
c.6710C>A (p.Ala2237Glu)
c.6599C>A (p.Ala2200Glu)
c.6521C>A (p.Ala2174Glu)
c.6173C>A (p.Ala2058Glu)
c.5798C>A (p.Ala1933Glu)
c.6605C>A (p.Ala2202Glu)
c.6707C>A (p.Ala2236Glu)
c.6683C>A (p.Ala2228Glu)
c.6650C>A (p.Ala2217Glu)
c.6626C>A (p.Ala2209Glu)
c.6581C>A (p.Ala2194Glu)
 dbSNP gnomAD v4
3g.53811375C=CA1365489058CACNA1Dc.6515C= (p.Ala2172=)
n.1844C=
n.3454C=
n.1890C=
c.6455C= (p.Ala2152=)
c.6383C= (p.Ala2128=)
c.2576C=
c.6410C= (p.Ala2137=)
n.1882C=
c.6482C= (p.Ala2161=)
c.5534C= (p.Ala1845=)
c.6710C= (p.Ala2237=)
c.6599C= (p.Ala2200=)
c.6521C= (p.Ala2174=)
c.6173C= (p.Ala2058=)
c.5798C= (p.Ala1933=)
c.6605C= (p.Ala2202=)
c.6707C= (p.Ala2236=)
c.6683C= (p.Ala2228=)
c.6650C= (p.Ala2217=)
c.6626C= (p.Ala2209=)
c.6581C= (p.Ala2194=)
3g.53811375C>GCA353259797CACNA1Dc.6515C>G (p.Ala2172Gly)
n.1844C>G
n.3454C>G
n.1890C>G
c.6455C>G (p.Ala2152Gly)
c.6383C>G (p.Ala2128Gly)
c.2576C>G
c.6410C>G (p.Ala2137Gly)
n.1882C>G
c.6482C>G (p.Ala2161Gly)
c.5534C>G (p.Ala1845Gly)
c.6710C>G (p.Ala2237Gly)
c.6599C>G (p.Ala2200Gly)
c.6521C>G (p.Ala2174Gly)
c.6173C>G (p.Ala2058Gly)
c.5798C>G (p.Ala1933Gly)
c.6605C>G (p.Ala2202Gly)
c.6707C>G (p.Ala2236Gly)
c.6683C>G (p.Ala2228Gly)
c.6650C>G (p.Ala2217Gly)
c.6626C>G (p.Ala2209Gly)
c.6581C>G (p.Ala2194Gly)
3g.53811375C>TCA74870271CACNA1Dc.6515C>T (p.Ala2172Val)
n.1844C>T
n.3454C>T
n.1890C>T
c.6455C>T (p.Ala2152Val)
c.6383C>T (p.Ala2128Val)
c.2576C>T
c.6410C>T (p.Ala2137Val)
n.1882C>T
c.6482C>T (p.Ala2161Val)
c.5534C>T (p.Ala1845Val)
c.6710C>T (p.Ala2237Val)
c.6599C>T (p.Ala2200Val)
c.6521C>T (p.Ala2174Val)
c.6173C>T (p.Ala2058Val)
c.5798C>T (p.Ala1933Val)
c.6605C>T (p.Ala2202Val)
c.6707C>T (p.Ala2236Val)
c.6683C>T (p.Ala2228Val)
c.6650C>T (p.Ala2217Val)
c.6626C>T (p.Ala2209Val)
c.6581C>T (p.Ala2194Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53811376G>ACA2455452CACNA1Dc.6516G>A (p.Ala2172=)
n.1845G>A
n.3455G>A
n.1891G>A
c.6456G>A (p.Ala2152=)
c.6384G>A (p.Ala2128=)
c.2577G>A
c.6411G>A (p.Ala2137=)
n.1883G>A
c.6483G>A (p.Ala2161=)
c.5535G>A (p.Ala1845=)
c.6711G>A (p.Ala2237=)
c.6600G>A (p.Ala2200=)
c.6522G>A (p.Ala2174=)
c.6174G>A (p.Ala2058=)
c.5799G>A (p.Ala1933=)
c.6606G>A (p.Ala2202=)
c.6708G>A (p.Ala2236=)
c.6684G>A (p.Ala2228=)
c.6651G>A (p.Ala2217=)
c.6627G>A (p.Ala2209=)
c.6582G>A (p.Ala2194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811376G>CCA433895909CACNA1Dc.6516G>C (p.Ala2172=)
n.1845G>C
n.3455G>C
n.1891G>C
c.6456G>C (p.Ala2152=)
c.6384G>C (p.Ala2128=)
c.2577G>C
c.6411G>C (p.Ala2137=)
n.1883G>C
c.6483G>C (p.Ala2161=)
c.5535G>C (p.Ala1845=)
c.6711G>C (p.Ala2237=)
c.6600G>C (p.Ala2200=)
c.6522G>C (p.Ala2174=)
c.6174G>C (p.Ala2058=)
c.5799G>C (p.Ala1933=)
c.6606G>C (p.Ala2202=)
c.6708G>C (p.Ala2236=)
c.6684G>C (p.Ala2228=)
c.6651G>C (p.Ala2217=)
c.6627G>C (p.Ala2209=)
c.6582G>C (p.Ala2194=)
 gnomAD v4
3g.53811376G=CA1365489059CACNA1Dc.6516G= (p.Ala2172=)
n.1845G=
n.3455G=
n.1891G=
c.6456G= (p.Ala2152=)
c.6384G= (p.Ala2128=)
c.2577G=
c.6411G= (p.Ala2137=)
n.1883G=
c.6483G= (p.Ala2161=)
c.5535G= (p.Ala1845=)
c.6711G= (p.Ala2237=)
c.6600G= (p.Ala2200=)
c.6522G= (p.Ala2174=)
c.6174G= (p.Ala2058=)
c.5799G= (p.Ala1933=)
c.6606G= (p.Ala2202=)
c.6708G= (p.Ala2236=)
c.6684G= (p.Ala2228=)
c.6651G= (p.Ala2217=)
c.6627G= (p.Ala2209=)
c.6582G= (p.Ala2194=)
3g.53811376G>TCA433895905CACNA1Dc.6516G>T (p.Ala2172=)
n.1845G>T
n.3455G>T
n.1891G>T
c.6456G>T (p.Ala2152=)
c.6384G>T (p.Ala2128=)
c.2577G>T
c.6411G>T (p.Ala2137=)
n.1883G>T
c.6483G>T (p.Ala2161=)
c.5535G>T (p.Ala1845=)
c.6711G>T (p.Ala2237=)
c.6600G>T (p.Ala2200=)
c.6522G>T (p.Ala2174=)
c.6174G>T (p.Ala2058=)
c.5799G>T (p.Ala1933=)
c.6606G>T (p.Ala2202=)
c.6708G>T (p.Ala2236=)
c.6684G>T (p.Ala2228=)
c.6651G>T (p.Ala2217=)
c.6627G>T (p.Ala2209=)
c.6582G>T (p.Ala2194=)
3g.53811377G>ACA353259809CACNA1Dc.6517G>A (p.Asp2173Asn)
n.1846G>A
n.3456G>A
n.1892G>A
c.6457G>A (p.Asp2153Asn)
c.6385G>A (p.Asp2129Asn)
c.2578G>A
c.6412G>A (p.Asp2138Asn)
n.1884G>A
c.6484G>A (p.Asp2162Asn)
c.5536G>A (p.Asp1846Asn)
c.6712G>A (p.Asp2238Asn)
c.6601G>A (p.Asp2201Asn)
c.6523G>A (p.Asp2175Asn)
c.6175G>A (p.Asp2059Asn)
c.5800G>A (p.Asp1934Asn)
c.6607G>A (p.Asp2203Asn)
c.6709G>A (p.Asp2237Asn)
c.6685G>A (p.Asp2229Asn)
c.6652G>A (p.Asp2218Asn)
c.6628G>A (p.Asp2210Asn)
c.6583G>A (p.Asp2195Asn)
3g.53811377G>CCA353259805CACNA1Dc.6517G>C (p.Asp2173His)
n.1846G>C
n.3456G>C
n.1892G>C
c.6457G>C (p.Asp2153His)
c.6385G>C (p.Asp2129His)
c.2578G>C
c.6412G>C (p.Asp2138His)
n.1884G>C
c.6484G>C (p.Asp2162His)
c.5536G>C (p.Asp1846His)
c.6712G>C (p.Asp2238His)
c.6601G>C (p.Asp2201His)
c.6523G>C (p.Asp2175His)
c.6175G>C (p.Asp2059His)
c.5800G>C (p.Asp1934His)
c.6607G>C (p.Asp2203His)
c.6709G>C (p.Asp2237His)
c.6685G>C (p.Asp2229His)
c.6652G>C (p.Asp2218His)
c.6628G>C (p.Asp2210His)
c.6583G>C (p.Asp2195His)
 gnomAD v4
3g.53811377G>TCA353259808CACNA1Dc.6517G>T (p.Asp2173Tyr)
n.1846G>T
n.3456G>T
n.1892G>T
c.6457G>T (p.Asp2153Tyr)
c.6385G>T (p.Asp2129Tyr)
c.2578G>T
c.6412G>T (p.Asp2138Tyr)
n.1884G>T
c.6484G>T (p.Asp2162Tyr)
c.5536G>T (p.Asp1846Tyr)
c.6712G>T (p.Asp2238Tyr)
c.6601G>T (p.Asp2201Tyr)
c.6523G>T (p.Asp2175Tyr)
c.6175G>T (p.Asp2059Tyr)
c.5800G>T (p.Asp1934Tyr)
c.6607G>T (p.Asp2203Tyr)
c.6709G>T (p.Asp2237Tyr)
c.6685G>T (p.Asp2229Tyr)
c.6652G>T (p.Asp2218Tyr)
c.6628G>T (p.Asp2210Tyr)
c.6583G>T (p.Asp2195Tyr)
3g.53811378A>CCA353259813CACNA1Dc.6518A>C (p.Asp2173Ala)
n.1847A>C
n.3457A>C
n.1893A>C
c.6458A>C (p.Asp2153Ala)
c.6386A>C (p.Asp2129Ala)
c.2579A>C
c.6413A>C (p.Asp2138Ala)
n.1885A>C
c.6485A>C (p.Asp2162Ala)
c.5537A>C (p.Asp1846Ala)
c.6713A>C (p.Asp2238Ala)
c.6602A>C (p.Asp2201Ala)
c.6524A>C (p.Asp2175Ala)
c.6176A>C (p.Asp2059Ala)
c.5801A>C (p.Asp1934Ala)
c.6608A>C (p.Asp2203Ala)
c.6710A>C (p.Asp2237Ala)
c.6686A>C (p.Asp2229Ala)
c.6653A>C (p.Asp2218Ala)
c.6629A>C (p.Asp2210Ala)
c.6584A>C (p.Asp2195Ala)
3g.53811378A>GCA353259815CACNA1Dc.6518A>G (p.Asp2173Gly)
n.1847A>G
n.3457A>G
n.1893A>G
c.6458A>G (p.Asp2153Gly)
c.6386A>G (p.Asp2129Gly)
c.2579A>G
c.6413A>G (p.Asp2138Gly)
n.1885A>G
c.6485A>G (p.Asp2162Gly)
c.5537A>G (p.Asp1846Gly)
c.6713A>G (p.Asp2238Gly)
c.6602A>G (p.Asp2201Gly)
c.6524A>G (p.Asp2175Gly)
c.6176A>G (p.Asp2059Gly)
c.5801A>G (p.Asp1934Gly)
c.6608A>G (p.Asp2203Gly)
c.6710A>G (p.Asp2237Gly)
c.6686A>G (p.Asp2229Gly)
c.6653A>G (p.Asp2218Gly)
c.6629A>G (p.Asp2210Gly)
c.6584A>G (p.Asp2195Gly)
3g.53811378A>TCA353259817CACNA1Dc.6518A>T (p.Asp2173Val)
n.1847A>T
n.3457A>T
n.1893A>T
c.6458A>T (p.Asp2153Val)
c.6386A>T (p.Asp2129Val)
c.2579A>T
c.6413A>T (p.Asp2138Val)
n.1885A>T
c.6485A>T (p.Asp2162Val)
c.5537A>T (p.Asp1846Val)
c.6713A>T (p.Asp2238Val)
c.6602A>T (p.Asp2201Val)
c.6524A>T (p.Asp2175Val)
c.6176A>T (p.Asp2059Val)
c.5801A>T (p.Asp1934Val)
c.6608A>T (p.Asp2203Val)
c.6710A>T (p.Asp2237Val)
c.6686A>T (p.Asp2229Val)
c.6653A>T (p.Asp2218Val)
c.6629A>T (p.Asp2210Val)
c.6584A>T (p.Asp2195Val)
3g.53811379T>ACA353259819CACNA1Dc.6519T>A (p.Asp2173Glu)
n.1848T>A
n.3458T>A
n.1894T>A
c.6459T>A (p.Asp2153Glu)
c.6387T>A (p.Asp2129Glu)
c.2580T>A
c.6414T>A (p.Asp2138Glu)
n.1886T>A
c.6486T>A (p.Asp2162Glu)
c.5538T>A (p.Asp1846Glu)
c.6714T>A (p.Asp2238Glu)
c.6603T>A (p.Asp2201Glu)
c.6525T>A (p.Asp2175Glu)
c.6177T>A (p.Asp2059Glu)
c.5802T>A (p.Asp1934Glu)
c.6609T>A (p.Asp2203Glu)
c.6711T>A (p.Asp2237Glu)
c.6687T>A (p.Asp2229Glu)
c.6654T>A (p.Asp2218Glu)
c.6630T>A (p.Asp2210Glu)
c.6585T>A (p.Asp2195Glu)
3g.53811379T>CCA433895914CACNA1Dc.6519T>C (p.Asp2173=)
n.1848T>C
n.3458T>C
n.1894T>C
c.6459T>C (p.Asp2153=)
c.6387T>C (p.Asp2129=)
c.2580T>C
c.6414T>C (p.Asp2138=)
n.1886T>C
c.6486T>C (p.Asp2162=)
c.5538T>C (p.Asp1846=)
c.6714T>C (p.Asp2238=)
c.6603T>C (p.Asp2201=)
c.6525T>C (p.Asp2175=)
c.6177T>C (p.Asp2059=)
c.5802T>C (p.Asp1934=)
c.6609T>C (p.Asp2203=)
c.6711T>C (p.Asp2237=)
c.6687T>C (p.Asp2229=)
c.6654T>C (p.Asp2218=)
c.6630T>C (p.Asp2210=)
c.6585T>C (p.Asp2195=)
 gnomAD v4
3g.53811379T>GCA353259822CACNA1Dc.6519T>G (p.Asp2173Glu)
n.1848T>G
n.3458T>G
n.1894T>G
c.6459T>G (p.Asp2153Glu)
c.6387T>G (p.Asp2129Glu)
c.2580T>G
c.6414T>G (p.Asp2138Glu)
n.1886T>G
c.6486T>G (p.Asp2162Glu)
c.5538T>G (p.Asp1846Glu)
c.6714T>G (p.Asp2238Glu)
c.6603T>G (p.Asp2201Glu)
c.6525T>G (p.Asp2175Glu)
c.6177T>G (p.Asp2059Glu)
c.5802T>G (p.Asp1934Glu)
c.6609T>G (p.Asp2203Glu)
c.6711T>G (p.Asp2237Glu)
c.6687T>G (p.Asp2229Glu)
c.6654T>G (p.Asp2218Glu)
c.6630T>G (p.Asp2210Glu)
c.6585T>G (p.Asp2195Glu)
3g.53811380G>ACA353259825CACNA1Dc.6520G>A (p.Glu2174Lys)
n.1849G>A
n.3459G>A
n.1895G>A
c.6460G>A (p.Glu2154Lys)
c.6388G>A (p.Glu2130Lys)
c.2581G>A
c.6415G>A (p.Glu2139Lys)
n.1887G>A
c.6487G>A (p.Glu2163Lys)
c.5539G>A (p.Glu1847Lys)
c.6715G>A (p.Glu2239Lys)
c.6604G>A (p.Glu2202Lys)
c.6526G>A (p.Glu2176Lys)
c.6178G>A (p.Glu2060Lys)
c.5803G>A (p.Glu1935Lys)
c.6610G>A (p.Glu2204Lys)
c.6712G>A (p.Glu2238Lys)
c.6688G>A (p.Glu2230Lys)
c.6655G>A (p.Glu2219Lys)
c.6631G>A (p.Glu2211Lys)
c.6586G>A (p.Glu2196Lys)
 gnomAD v4
3g.53811380G>CCA353259827CACNA1Dc.6520G>C (p.Glu2174Gln)
n.1849G>C
n.3459G>C
n.1895G>C
c.6460G>C (p.Glu2154Gln)
c.6388G>C (p.Glu2130Gln)
c.2581G>C
c.6415G>C (p.Glu2139Gln)
n.1887G>C
c.6487G>C (p.Glu2163Gln)
c.5539G>C (p.Glu1847Gln)
c.6715G>C (p.Glu2239Gln)
c.6604G>C (p.Glu2202Gln)
c.6526G>C (p.Glu2176Gln)
c.6178G>C (p.Glu2060Gln)
c.5803G>C (p.Glu1935Gln)
c.6610G>C (p.Glu2204Gln)
c.6712G>C (p.Glu2238Gln)
c.6688G>C (p.Glu2230Gln)
c.6655G>C (p.Glu2219Gln)
c.6631G>C (p.Glu2211Gln)
c.6586G>C (p.Glu2196Gln)
3g.53811380G>TCA353259829CACNA1Dc.6520G>T (p.Glu2174Ter)
n.1849G>T
n.3459G>T
n.1895G>T
c.6460G>T (p.Glu2154Ter)
c.6388G>T (p.Glu2130Ter)
c.2581G>T
c.6415G>T (p.Glu2139Ter)
n.1887G>T
c.6487G>T (p.Glu2163Ter)
c.5539G>T (p.Glu1847Ter)
c.6715G>T (p.Glu2239Ter)
c.6604G>T (p.Glu2202Ter)
c.6526G>T (p.Glu2176Ter)
c.6178G>T (p.Glu2060Ter)
c.5803G>T (p.Glu1935Ter)
c.6610G>T (p.Glu2204Ter)
c.6712G>T (p.Glu2238Ter)
c.6688G>T (p.Glu2230Ter)
c.6655G>T (p.Glu2219Ter)
c.6631G>T (p.Glu2211Ter)
c.6586G>T (p.Glu2196Ter)
3g.53811381A>CCA353259833CACNA1Dc.6521A>C (p.Glu2174Ala)
n.1850A>C
n.3460A>C
n.1896A>C
c.6461A>C (p.Glu2154Ala)
c.6389A>C (p.Glu2130Ala)
c.2582A>C
c.6416A>C (p.Glu2139Ala)
n.1888A>C
c.6488A>C (p.Glu2163Ala)
c.5540A>C (p.Glu1847Ala)
c.6716A>C (p.Glu2239Ala)
c.6605A>C (p.Glu2202Ala)
c.6527A>C (p.Glu2176Ala)
c.6179A>C (p.Glu2060Ala)
c.5804A>C (p.Glu1935Ala)
c.6611A>C (p.Glu2204Ala)
c.6713A>C (p.Glu2238Ala)
c.6689A>C (p.Glu2230Ala)
c.6656A>C (p.Glu2219Ala)
c.6632A>C (p.Glu2211Ala)
c.6587A>C (p.Glu2196Ala)
3g.53811381A>GCA353259835CACNA1Dc.6521A>G (p.Glu2174Gly)
n.1850A>G
n.3460A>G
n.1896A>G
c.6461A>G (p.Glu2154Gly)
c.6389A>G (p.Glu2130Gly)
c.2582A>G
c.6416A>G (p.Glu2139Gly)
n.1888A>G
c.6488A>G (p.Glu2163Gly)
c.5540A>G (p.Glu1847Gly)
c.6716A>G (p.Glu2239Gly)
c.6605A>G (p.Glu2202Gly)
c.6527A>G (p.Glu2176Gly)
c.6179A>G (p.Glu2060Gly)
c.5804A>G (p.Glu1935Gly)
c.6611A>G (p.Glu2204Gly)
c.6713A>G (p.Glu2238Gly)
c.6689A>G (p.Glu2230Gly)
c.6656A>G (p.Glu2219Gly)
c.6632A>G (p.Glu2211Gly)
c.6587A>G (p.Glu2196Gly)
3g.53811381A>TCA353259837CACNA1Dc.6521A>T (p.Glu2174Val)
n.1850A>T
n.3460A>T
n.1896A>T
c.6461A>T (p.Glu2154Val)
c.6389A>T (p.Glu2130Val)
c.2582A>T
c.6416A>T (p.Glu2139Val)
n.1888A>T
c.6488A>T (p.Glu2163Val)
c.5540A>T (p.Glu1847Val)
c.6716A>T (p.Glu2239Val)
c.6605A>T (p.Glu2202Val)
c.6527A>T (p.Glu2176Val)
c.6179A>T (p.Glu2060Val)
c.5804A>T (p.Glu1935Val)
c.6611A>T (p.Glu2204Val)
c.6713A>T (p.Glu2238Val)
c.6689A>T (p.Glu2230Val)
c.6656A>T (p.Glu2219Val)
c.6632A>T (p.Glu2211Val)
c.6587A>T (p.Glu2196Val)
 gnomAD v4
3g.53811382A>CCA353259840CACNA1Dc.6522A>C (p.Glu2174Asp)
n.1851A>C
n.3461A>C
n.1897A>C
c.6462A>C (p.Glu2154Asp)
c.6390A>C (p.Glu2130Asp)
c.2583A>C
c.6417A>C (p.Glu2139Asp)
n.1889A>C
c.6489A>C (p.Glu2163Asp)
c.5541A>C (p.Glu1847Asp)
c.6717A>C (p.Glu2239Asp)
c.6606A>C (p.Glu2202Asp)
c.6528A>C (p.Glu2176Asp)
c.6180A>C (p.Glu2060Asp)
c.5805A>C (p.Glu1935Asp)
c.6612A>C (p.Glu2204Asp)
c.6714A>C (p.Glu2238Asp)
c.6690A>C (p.Glu2230Asp)
c.6657A>C (p.Glu2219Asp)
c.6633A>C (p.Glu2211Asp)
c.6588A>C (p.Glu2196Asp)
3g.53811382A>GCA433895920CACNA1Dc.6522A>G (p.Glu2174=)
n.1851A>G
n.3461A>G
n.1897A>G
c.6462A>G (p.Glu2154=)
c.6390A>G (p.Glu2130=)
c.2583A>G
c.6417A>G (p.Glu2139=)
n.1889A>G
c.6489A>G (p.Glu2163=)
c.5541A>G (p.Glu1847=)
c.6717A>G (p.Glu2239=)
c.6606A>G (p.Glu2202=)
c.6528A>G (p.Glu2176=)
c.6180A>G (p.Glu2060=)
c.5805A>G (p.Glu1935=)
c.6612A>G (p.Glu2204=)
c.6714A>G (p.Glu2238=)
c.6690A>G (p.Glu2230=)
c.6657A>G (p.Glu2219=)
c.6633A>G (p.Glu2211=)
c.6588A>G (p.Glu2196=)
 gnomAD v4
3g.53811382A>TCA353259842CACNA1Dc.6522A>T (p.Glu2174Asp)
n.1851A>T
n.3461A>T
n.1897A>T
c.6462A>T (p.Glu2154Asp)
c.6390A>T (p.Glu2130Asp)
c.2583A>T
c.6417A>T (p.Glu2139Asp)
n.1889A>T
c.6489A>T (p.Glu2163Asp)
c.5541A>T (p.Glu1847Asp)
c.6717A>T (p.Glu2239Asp)
c.6606A>T (p.Glu2202Asp)
c.6528A>T (p.Glu2176Asp)
c.6180A>T (p.Glu2060Asp)
c.5805A>T (p.Glu1935Asp)
c.6612A>T (p.Glu2204Asp)
c.6714A>T (p.Glu2238Asp)
c.6690A>T (p.Glu2230Asp)
c.6657A>T (p.Glu2219Asp)
c.6633A>T (p.Glu2211Asp)
c.6588A>T (p.Glu2196Asp)
3g.53811383A>CCA353259846CACNA1Dc.6523A>C (p.Met2175Leu)
n.1852A>C
n.3462A>C
n.1898A>C
c.6463A>C (p.Met2155Leu)
c.6391A>C (p.Met2131Leu)
c.2584A>C
c.6418A>C (p.Met2140Leu)
n.1890A>C
c.6490A>C (p.Met2164Leu)
c.5542A>C (p.Met1848Leu)
c.6718A>C (p.Met2240Leu)
c.6607A>C (p.Met2203Leu)
c.6529A>C (p.Met2177Leu)
c.6181A>C (p.Met2061Leu)
c.5806A>C (p.Met1936Leu)
c.6613A>C (p.Met2205Leu)
c.6715A>C (p.Met2239Leu)
c.6691A>C (p.Met2231Leu)
c.6658A>C (p.Met2220Leu)
c.6634A>C (p.Met2212Leu)
c.6589A>C (p.Met2197Leu)
3g.53811383A>GCA353259851CACNA1Dc.6523A>G (p.Met2175Val)
n.1852A>G
n.3462A>G
n.1898A>G
c.6463A>G (p.Met2155Val)
c.6391A>G (p.Met2131Val)
c.2584A>G
c.6418A>G (p.Met2140Val)
n.1890A>G
c.6490A>G (p.Met2164Val)
c.5542A>G (p.Met1848Val)
c.6718A>G (p.Met2240Val)
c.6607A>G (p.Met2203Val)
c.6529A>G (p.Met2177Val)
c.6181A>G (p.Met2061Val)
c.5806A>G (p.Met1936Val)
c.6613A>G (p.Met2205Val)
c.6715A>G (p.Met2239Val)
c.6691A>G (p.Met2231Val)
c.6658A>G (p.Met2220Val)
c.6634A>G (p.Met2212Val)
c.6589A>G (p.Met2197Val)
3g.53811383A>TCA353259848CACNA1Dc.6523A>T (p.Met2175Leu)
n.1852A>T
n.3462A>T
n.1898A>T
c.6463A>T (p.Met2155Leu)
c.6391A>T (p.Met2131Leu)
c.2584A>T
c.6418A>T (p.Met2140Leu)
n.1890A>T
c.6490A>T (p.Met2164Leu)
c.5542A>T (p.Met1848Leu)
c.6718A>T (p.Met2240Leu)
c.6607A>T (p.Met2203Leu)
c.6529A>T (p.Met2177Leu)
c.6181A>T (p.Met2061Leu)
c.5806A>T (p.Met1936Leu)
c.6613A>T (p.Met2205Leu)
c.6715A>T (p.Met2239Leu)
c.6691A>T (p.Met2231Leu)
c.6658A>T (p.Met2220Leu)
c.6634A>T (p.Met2212Leu)
c.6589A>T (p.Met2197Leu)
3g.53811384T>ACA353259854CACNA1Dc.6524T>A (p.Met2175Lys)
n.1853T>A
n.3463T>A
n.1899T>A
c.6464T>A (p.Met2155Lys)
c.6392T>A (p.Met2131Lys)
c.2585T>A
c.6419T>A (p.Met2140Lys)
n.1891T>A
c.6491T>A (p.Met2164Lys)
c.5543T>A (p.Met1848Lys)
c.6719T>A (p.Met2240Lys)
c.6608T>A (p.Met2203Lys)
c.6530T>A (p.Met2177Lys)
c.6182T>A (p.Met2061Lys)
c.5807T>A (p.Met1936Lys)
c.6614T>A (p.Met2205Lys)
c.6716T>A (p.Met2239Lys)
c.6692T>A (p.Met2231Lys)
c.6659T>A (p.Met2220Lys)
c.6635T>A (p.Met2212Lys)
c.6590T>A (p.Met2197Lys)
 dbSNP gnomAD v4
3g.53811384T>CCA353259856CACNA1Dc.6524T>C (p.Met2175Thr)
n.1853T>C
n.3463T>C
n.1899T>C
c.6464T>C (p.Met2155Thr)
c.6392T>C (p.Met2131Thr)
c.2585T>C
c.6419T>C (p.Met2140Thr)
n.1891T>C
c.6491T>C (p.Met2164Thr)
c.5543T>C (p.Met1848Thr)
c.6719T>C (p.Met2240Thr)
c.6608T>C (p.Met2203Thr)
c.6530T>C (p.Met2177Thr)
c.6182T>C (p.Met2061Thr)
c.5807T>C (p.Met1936Thr)
c.6614T>C (p.Met2205Thr)
c.6716T>C (p.Met2239Thr)
c.6692T>C (p.Met2231Thr)
c.6659T>C (p.Met2220Thr)
c.6635T>C (p.Met2212Thr)
c.6590T>C (p.Met2197Thr)
3g.53811384T>GCA353259858CACNA1Dc.6524T>G (p.Met2175Arg)
n.1853T>G
n.3463T>G
n.1899T>G
c.6464T>G (p.Met2155Arg)
c.6392T>G (p.Met2131Arg)
c.2585T>G
c.6419T>G (p.Met2140Arg)
n.1891T>G
c.6491T>G (p.Met2164Arg)
c.5543T>G (p.Met1848Arg)
c.6719T>G (p.Met2240Arg)
c.6608T>G (p.Met2203Arg)
c.6530T>G (p.Met2177Arg)
c.6182T>G (p.Met2061Arg)
c.5807T>G (p.Met1936Arg)
c.6614T>G (p.Met2205Arg)
c.6716T>G (p.Met2239Arg)
c.6692T>G (p.Met2231Arg)
c.6659T>G (p.Met2220Arg)
c.6635T>G (p.Met2212Arg)
c.6590T>G (p.Met2197Arg)
3g.53811384T=CA1365489060CACNA1Dc.6524T= (p.Met2175=)
n.1853T=
n.3463T=
n.1899T=
c.6464T= (p.Met2155=)
c.6392T= (p.Met2131=)
c.2585T=
c.6419T= (p.Met2140=)
n.1891T=
c.6491T= (p.Met2164=)
c.5543T= (p.Met1848=)
c.6719T= (p.Met2240=)
c.6608T= (p.Met2203=)
c.6530T= (p.Met2177=)
c.6182T= (p.Met2061=)
c.5807T= (p.Met1936=)
c.6614T= (p.Met2205=)
c.6716T= (p.Met2239=)
c.6692T= (p.Met2231=)
c.6659T= (p.Met2220=)
c.6635T= (p.Met2212=)
c.6590T= (p.Met2197=)
3g.53811385G>ACA353259862CACNA1Dc.6525G>A (p.Met2175Ile)
n.1854G>A
n.3464G>A
n.1900G>A
c.6465G>A (p.Met2155Ile)
c.6393G>A (p.Met2131Ile)
c.2586G>A
c.6420G>A (p.Met2140Ile)
n.1892G>A
c.6492G>A (p.Met2164Ile)
c.5544G>A (p.Met1848Ile)
c.6720G>A (p.Met2240Ile)
c.6609G>A (p.Met2203Ile)
c.6531G>A (p.Met2177Ile)
c.6183G>A (p.Met2061Ile)
c.5808G>A (p.Met1936Ile)
c.6615G>A (p.Met2205Ile)
c.6717G>A (p.Met2239Ile)
c.6693G>A (p.Met2231Ile)
c.6660G>A (p.Met2220Ile)
c.6636G>A (p.Met2212Ile)
c.6591G>A (p.Met2197Ile)
 dbSNP
3g.53811385G>CCA353259864CACNA1Dc.6525G>C (p.Met2175Ile)
n.1854G>C
n.3464G>C
n.1900G>C
c.6465G>C (p.Met2155Ile)
c.6393G>C (p.Met2131Ile)
c.2586G>C
c.6420G>C (p.Met2140Ile)
n.1892G>C
c.6492G>C (p.Met2164Ile)
c.5544G>C (p.Met1848Ile)
c.6720G>C (p.Met2240Ile)
c.6609G>C (p.Met2203Ile)
c.6531G>C (p.Met2177Ile)
c.6183G>C (p.Met2061Ile)
c.5808G>C (p.Met1936Ile)
c.6615G>C (p.Met2205Ile)
c.6717G>C (p.Met2239Ile)
c.6693G>C (p.Met2231Ile)
c.6660G>C (p.Met2220Ile)
c.6636G>C (p.Met2212Ile)
c.6591G>C (p.Met2197Ile)
3g.53811385G=CA1365489062CACNA1Dc.6525G= (p.Met2175=)
n.1854G=
n.3464G=
n.1900G=
c.6465G= (p.Met2155=)
c.6393G= (p.Met2131=)
c.2586G=
c.6420G= (p.Met2140=)
n.1892G=
c.6492G= (p.Met2164=)
c.5544G= (p.Met1848=)
c.6720G= (p.Met2240=)
c.6609G= (p.Met2203=)
c.6531G= (p.Met2177=)
c.6183G= (p.Met2061=)
c.5808G= (p.Met1936=)
c.6615G= (p.Met2205=)
c.6717G= (p.Met2239=)
c.6693G= (p.Met2231=)
c.6660G= (p.Met2220=)
c.6636G= (p.Met2212=)
c.6591G= (p.Met2197=)
3g.53811385G>TCA353259867CACNA1Dc.6525G>T (p.Met2175Ile)
n.1854G>T
n.3464G>T
n.1900G>T
c.6465G>T (p.Met2155Ile)
c.6393G>T (p.Met2131Ile)
c.2586G>T
c.6420G>T (p.Met2140Ile)
n.1892G>T
c.6492G>T (p.Met2164Ile)
c.5544G>T (p.Met1848Ile)
c.6720G>T (p.Met2240Ile)
c.6609G>T (p.Met2203Ile)
c.6531G>T (p.Met2177Ile)
c.6183G>T (p.Met2061Ile)
c.5808G>T (p.Met1936Ile)
c.6615G>T (p.Met2205Ile)
c.6717G>T (p.Met2239Ile)
c.6693G>T (p.Met2231Ile)
c.6660G>T (p.Met2220Ile)
c.6636G>T (p.Met2212Ile)
c.6591G>T (p.Met2197Ile)
3g.53811385_53811386delinsGACA1365489061CACNA1Dc.6525_6526delinsGA (p.Met2175=)
n.1854_1855delinsGA
n.3464_3465delinsGA
n.1900_1901delinsGA
c.6465_6466delinsGA (p.Met2155=)
c.6393_6394delinsGA (p.Met2131=)
c.2586_2587delinsGA
c.6420_6421delinsGA (p.Met2140=)
n.1892_1893delinsGA
c.6492_6493delinsGA (p.Met2164=)
c.5544_5545delinsGA (p.Met1848=)
c.6720_6721delinsGA (p.Met2240=)
c.6609_6610delinsGA (p.Met2203=)
c.6531_6532delinsGA (p.Met2177=)
c.6183_6184delinsGA (p.Met2061=)
c.5808_5809delinsGA (p.Met1936=)
c.6615_6616delinsGA (p.Met2205=)
c.6717_6718delinsGA (p.Met2239=)
c.6693_6694delinsGA (p.Met2231=)
c.6660_6661delinsGA (p.Met2220=)
c.6636_6637delinsGA (p.Met2212=)
c.6591_6592delinsGA (p.Met2197=)
3g.53811386delCA543530602CACNA1Dc.6526del (p.Ile2176TyrfsTer?)
n.1855del
n.3465del
n.1901del
c.6466del (p.Ile2156TyrfsTer?)
c.6394del (p.Ile2132TyrfsTer?)
c.2587del
c.6421del (p.Ile2141TyrfsTer?)
n.1893del
c.6493del (p.Ile2165TyrfsTer?)
c.5545del (p.Ile1849TyrfsTer?)
c.6721del (p.Ile2241TyrfsTer?)
c.6610del (p.Ile2204TyrfsTer?)
c.6532del (p.Ile2178TyrfsTer?)
c.6184del (p.Ile2062TyrfsTer?)
c.5809del (p.Ile1937TyrfsTer?)
c.6616del (p.Ile2206TyrfsTer?)
c.6718del (p.Ile2240TyrfsTer?)
c.6694del (p.Ile2232TyrfsTer?)
c.6661del (p.Ile2221TyrfsTer?)
c.6637del (p.Ile2213TyrfsTer?)
c.6592del (p.Ile2198TyrfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.53811386A>CCA353259868CACNA1Dc.6526A>C (p.Ile2176Leu)
n.1855A>C
n.3465A>C
n.1901A>C
c.6466A>C (p.Ile2156Leu)
c.6394A>C (p.Ile2132Leu)
c.2587A>C
c.6421A>C (p.Ile2141Leu)
n.1893A>C
c.6493A>C (p.Ile2165Leu)
c.5545A>C (p.Ile1849Leu)
c.6721A>C (p.Ile2241Leu)
c.6610A>C (p.Ile2204Leu)
c.6532A>C (p.Ile2178Leu)
c.6184A>C (p.Ile2062Leu)
c.5809A>C (p.Ile1937Leu)
c.6616A>C (p.Ile2206Leu)
c.6718A>C (p.Ile2240Leu)
c.6694A>C (p.Ile2232Leu)
c.6661A>C (p.Ile2221Leu)
c.6637A>C (p.Ile2213Leu)
c.6592A>C (p.Ile2198Leu)
3g.53811386A>GCA353259869CACNA1Dc.6526A>G (p.Ile2176Val)
n.1855A>G
n.3465A>G
n.1901A>G
c.6466A>G (p.Ile2156Val)
c.6394A>G (p.Ile2132Val)
c.2587A>G
c.6421A>G (p.Ile2141Val)
n.1893A>G
c.6493A>G (p.Ile2165Val)
c.5545A>G (p.Ile1849Val)
c.6721A>G (p.Ile2241Val)
c.6610A>G (p.Ile2204Val)
c.6532A>G (p.Ile2178Val)
c.6184A>G (p.Ile2062Val)
c.5809A>G (p.Ile1937Val)
c.6616A>G (p.Ile2206Val)
c.6718A>G (p.Ile2240Val)
c.6694A>G (p.Ile2232Val)
c.6661A>G (p.Ile2221Val)
c.6637A>G (p.Ile2213Val)
c.6592A>G (p.Ile2198Val)
3g.53811386A>TCA353259870CACNA1Dc.6526A>T (p.Ile2176Leu)
n.1855A>T
n.3465A>T
n.1901A>T
c.6466A>T (p.Ile2156Leu)
c.6394A>T (p.Ile2132Leu)
c.2587A>T
c.6421A>T (p.Ile2141Leu)
n.1893A>T
c.6493A>T (p.Ile2165Leu)
c.5545A>T (p.Ile1849Leu)
c.6721A>T (p.Ile2241Leu)
c.6610A>T (p.Ile2204Leu)
c.6532A>T (p.Ile2178Leu)
c.6184A>T (p.Ile2062Leu)
c.5809A>T (p.Ile1937Leu)
c.6616A>T (p.Ile2206Leu)
c.6718A>T (p.Ile2240Leu)
c.6694A>T (p.Ile2232Leu)
c.6661A>T (p.Ile2221Leu)
c.6637A>T (p.Ile2213Leu)
c.6592A>T (p.Ile2198Leu)
3g.53811387T>ACA353259873CACNA1Dc.6527T>A (p.Ile2176Lys)
n.1856T>A
n.3466T>A
n.1902T>A
c.6467T>A (p.Ile2156Lys)
c.6395T>A (p.Ile2132Lys)
c.2588T>A
c.6422T>A (p.Ile2141Lys)
n.1894T>A
c.6494T>A (p.Ile2165Lys)
c.5546T>A (p.Ile1849Lys)
c.6722T>A (p.Ile2241Lys)
c.6611T>A (p.Ile2204Lys)
c.6533T>A (p.Ile2178Lys)
c.6185T>A (p.Ile2062Lys)
c.5810T>A (p.Ile1937Lys)
c.6617T>A (p.Ile2206Lys)
c.6719T>A (p.Ile2240Lys)
c.6695T>A (p.Ile2232Lys)
c.6662T>A (p.Ile2221Lys)
c.6638T>A (p.Ile2213Lys)
c.6593T>A (p.Ile2198Lys)
 gnomAD v4
3g.53811387T>CCA353259875CACNA1Dc.6527T>C (p.Ile2176Thr)
n.1856T>C
n.3466T>C
n.1902T>C
c.6467T>C (p.Ile2156Thr)
c.6395T>C (p.Ile2132Thr)
c.2588T>C
c.6422T>C (p.Ile2141Thr)
n.1894T>C
c.6494T>C (p.Ile2165Thr)
c.5546T>C (p.Ile1849Thr)
c.6722T>C (p.Ile2241Thr)
c.6611T>C (p.Ile2204Thr)
c.6533T>C (p.Ile2178Thr)
c.6185T>C (p.Ile2062Thr)
c.5810T>C (p.Ile1937Thr)
c.6617T>C (p.Ile2206Thr)
c.6719T>C (p.Ile2240Thr)
c.6695T>C (p.Ile2232Thr)
c.6662T>C (p.Ile2221Thr)
c.6638T>C (p.Ile2213Thr)
c.6593T>C (p.Ile2198Thr)
3g.53811387T>GCA353259877CACNA1Dc.6527T>G (p.Ile2176Arg)
n.1856T>G
n.3466T>G
n.1902T>G
c.6467T>G (p.Ile2156Arg)
c.6395T>G (p.Ile2132Arg)
c.2588T>G
c.6422T>G (p.Ile2141Arg)
n.1894T>G
c.6494T>G (p.Ile2165Arg)
c.5546T>G (p.Ile1849Arg)
c.6722T>G (p.Ile2241Arg)
c.6611T>G (p.Ile2204Arg)
c.6533T>G (p.Ile2178Arg)
c.6185T>G (p.Ile2062Arg)
c.5810T>G (p.Ile1937Arg)
c.6617T>G (p.Ile2206Arg)
c.6719T>G (p.Ile2240Arg)
c.6695T>G (p.Ile2232Arg)
c.6662T>G (p.Ile2221Arg)
c.6638T>G (p.Ile2213Arg)
c.6593T>G (p.Ile2198Arg)
3g.53811388A=CA1365489063CACNA1Dc.6528A= (p.Ile2176=)
n.1857A=
n.3467A=
n.1903A=
c.6468A= (p.Ile2156=)
c.6396A= (p.Ile2132=)
c.2589A=
c.6423A= (p.Ile2141=)
n.1895A=
c.6495A= (p.Ile2165=)
c.5547A= (p.Ile1849=)
c.6723A= (p.Ile2241=)
c.6612A= (p.Ile2204=)
c.6534A= (p.Ile2178=)
c.6186A= (p.Ile2062=)
c.5811A= (p.Ile1937=)
c.6618A= (p.Ile2206=)
c.6720A= (p.Ile2240=)
c.6696A= (p.Ile2232=)
c.6663A= (p.Ile2221=)
c.6639A= (p.Ile2213=)
c.6594A= (p.Ile2198=)
3g.53811388A>CCA433895934CACNA1Dc.6528A>C (p.Ile2176=)
n.1857A>C
n.3467A>C
n.1903A>C
c.6468A>C (p.Ile2156=)
c.6396A>C (p.Ile2132=)
c.2589A>C
c.6423A>C (p.Ile2141=)
n.1895A>C
c.6495A>C (p.Ile2165=)
c.5547A>C (p.Ile1849=)
c.6723A>C (p.Ile2241=)
c.6612A>C (p.Ile2204=)
c.6534A>C (p.Ile2178=)
c.6186A>C (p.Ile2062=)
c.5811A>C (p.Ile1937=)
c.6618A>C (p.Ile2206=)
c.6720A>C (p.Ile2240=)
c.6696A>C (p.Ile2232=)
c.6663A>C (p.Ile2221=)
c.6639A>C (p.Ile2213=)
c.6594A>C (p.Ile2198=)
3g.53811388A>GCA74870281CACNA1Dc.6528A>G (p.Ile2176Met)
n.1857A>G
n.3467A>G
n.1903A>G
c.6468A>G (p.Ile2156Met)
c.6396A>G (p.Ile2132Met)
c.2589A>G
c.6423A>G (p.Ile2141Met)
n.1895A>G
c.6495A>G (p.Ile2165Met)
c.5547A>G (p.Ile1849Met)
c.6723A>G (p.Ile2241Met)
c.6612A>G (p.Ile2204Met)
c.6534A>G (p.Ile2178Met)
c.6186A>G (p.Ile2062Met)
c.5811A>G (p.Ile1937Met)
c.6618A>G (p.Ile2206Met)
c.6720A>G (p.Ile2240Met)
c.6696A>G (p.Ile2232Met)
c.6663A>G (p.Ile2221Met)
c.6639A>G (p.Ile2213Met)
c.6594A>G (p.Ile2198Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811388A>TCA433895935CACNA1Dc.6528A>T (p.Ile2176=)
n.1857A>T
n.3467A>T
n.1903A>T
c.6468A>T (p.Ile2156=)
c.6396A>T (p.Ile2132=)
c.2589A>T
c.6423A>T (p.Ile2141=)
n.1895A>T
c.6495A>T (p.Ile2165=)
c.5547A>T (p.Ile1849=)
c.6723A>T (p.Ile2241=)
c.6612A>T (p.Ile2204=)
c.6534A>T (p.Ile2178=)
c.6186A>T (p.Ile2062=)
c.5811A>T (p.Ile1937=)
c.6618A>T (p.Ile2206=)
c.6720A>T (p.Ile2240=)
c.6696A>T (p.Ile2232=)
c.6663A>T (p.Ile2221=)
c.6639A>T (p.Ile2213=)
c.6594A>T (p.Ile2198=)
3g.53811389T>ACA353259883CACNA1Dc.6529T>A (p.Cys2177Ser)
n.1858T>A
n.3468T>A
n.1904T>A
c.6469T>A (p.Cys2157Ser)
c.6397T>A (p.Cys2133Ser)
c.2590T>A
c.6424T>A (p.Cys2142Ser)
n.1896T>A
c.6496T>A (p.Cys2166Ser)
c.5548T>A (p.Cys1850Ser)
c.6724T>A (p.Cys2242Ser)
c.6613T>A (p.Cys2205Ser)
c.6535T>A (p.Cys2179Ser)
c.6187T>A (p.Cys2063Ser)
c.5812T>A (p.Cys1938Ser)
c.6619T>A (p.Cys2207Ser)
c.6721T>A (p.Cys2241Ser)
c.6697T>A (p.Cys2233Ser)
c.6664T>A (p.Cys2222Ser)
c.6640T>A (p.Cys2214Ser)
c.6595T>A (p.Cys2199Ser)
3g.53811389T>CCA353259887CACNA1Dc.6529T>C (p.Cys2177Arg)
n.1858T>C
n.3468T>C
n.1904T>C
c.6469T>C (p.Cys2157Arg)
c.6397T>C (p.Cys2133Arg)
c.2590T>C
c.6424T>C (p.Cys2142Arg)
n.1896T>C
c.6496T>C (p.Cys2166Arg)
c.5548T>C (p.Cys1850Arg)
c.6724T>C (p.Cys2242Arg)
c.6613T>C (p.Cys2205Arg)
c.6535T>C (p.Cys2179Arg)
c.6187T>C (p.Cys2063Arg)
c.5812T>C (p.Cys1938Arg)
c.6619T>C (p.Cys2207Arg)
c.6721T>C (p.Cys2241Arg)
c.6697T>C (p.Cys2233Arg)
c.6664T>C (p.Cys2222Arg)
c.6640T>C (p.Cys2214Arg)
c.6595T>C (p.Cys2199Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53811389T>GCA353259885CACNA1Dc.6529T>G (p.Cys2177Gly)
n.1858T>G
n.3468T>G
n.1904T>G
c.6469T>G (p.Cys2157Gly)
c.6397T>G (p.Cys2133Gly)
c.2590T>G
c.6424T>G (p.Cys2142Gly)
n.1896T>G
c.6496T>G (p.Cys2166Gly)
c.5548T>G (p.Cys1850Gly)
c.6724T>G (p.Cys2242Gly)
c.6613T>G (p.Cys2205Gly)
c.6535T>G (p.Cys2179Gly)
c.6187T>G (p.Cys2063Gly)
c.5812T>G (p.Cys1938Gly)
c.6619T>G (p.Cys2207Gly)
c.6721T>G (p.Cys2241Gly)
c.6697T>G (p.Cys2233Gly)
c.6664T>G (p.Cys2222Gly)
c.6640T>G (p.Cys2214Gly)
c.6595T>G (p.Cys2199Gly)
3g.53811389T=CA1365489064CACNA1Dc.6529T= (p.Cys2177=)
n.1858T=
n.3468T=
n.1904T=
c.6469T= (p.Cys2157=)
c.6397T= (p.Cys2133=)
c.2590T=
c.6424T= (p.Cys2142=)
n.1896T=
c.6496T= (p.Cys2166=)
c.5548T= (p.Cys1850=)
c.6724T= (p.Cys2242=)
c.6613T= (p.Cys2205=)
c.6535T= (p.Cys2179=)
c.6187T= (p.Cys2063=)
c.5812T= (p.Cys1938=)
c.6619T= (p.Cys2207=)
c.6721T= (p.Cys2241=)
c.6697T= (p.Cys2233=)
c.6664T= (p.Cys2222=)
c.6640T= (p.Cys2214=)
c.6595T= (p.Cys2199=)
3g.53811390G>ACA353259891CACNA1Dc.6530G>A (p.Cys2177Tyr)
n.1859G>A
n.3469G>A
n.1905G>A
c.6470G>A (p.Cys2157Tyr)
c.6398G>A (p.Cys2133Tyr)
c.2591G>A
c.6425G>A (p.Cys2142Tyr)
n.1897G>A
c.6497G>A (p.Cys2166Tyr)
c.5549G>A (p.Cys1850Tyr)
c.6725G>A (p.Cys2242Tyr)
c.6614G>A (p.Cys2205Tyr)
c.6536G>A (p.Cys2179Tyr)
c.6188G>A (p.Cys2063Tyr)
c.5813G>A (p.Cys1938Tyr)
c.6620G>A (p.Cys2207Tyr)
c.6722G>A (p.Cys2241Tyr)
c.6698G>A (p.Cys2233Tyr)
c.6665G>A (p.Cys2222Tyr)
c.6641G>A (p.Cys2214Tyr)
c.6596G>A (p.Cys2199Tyr)
 gnomAD v4
3g.53811390G>CCA353259893CACNA1Dc.6530G>C (p.Cys2177Ser)
n.1859G>C
n.3469G>C
n.1905G>C
c.6470G>C (p.Cys2157Ser)
c.6398G>C (p.Cys2133Ser)
c.2591G>C
c.6425G>C (p.Cys2142Ser)
n.1897G>C
c.6497G>C (p.Cys2166Ser)
c.5549G>C (p.Cys1850Ser)
c.6725G>C (p.Cys2242Ser)
c.6614G>C (p.Cys2205Ser)
c.6536G>C (p.Cys2179Ser)
c.6188G>C (p.Cys2063Ser)
c.5813G>C (p.Cys1938Ser)
c.6620G>C (p.Cys2207Ser)
c.6722G>C (p.Cys2241Ser)
c.6698G>C (p.Cys2233Ser)
c.6665G>C (p.Cys2222Ser)
c.6641G>C (p.Cys2214Ser)
c.6596G>C (p.Cys2199Ser)
3g.53811390G>TCA353259895CACNA1Dc.6530G>T (p.Cys2177Phe)
n.1859G>T
n.3469G>T
n.1905G>T
c.6470G>T (p.Cys2157Phe)
c.6398G>T (p.Cys2133Phe)
c.2591G>T
c.6425G>T (p.Cys2142Phe)
n.1897G>T
c.6497G>T (p.Cys2166Phe)
c.5549G>T (p.Cys1850Phe)
c.6725G>T (p.Cys2242Phe)
c.6614G>T (p.Cys2205Phe)
c.6536G>T (p.Cys2179Phe)
c.6188G>T (p.Cys2063Phe)
c.5813G>T (p.Cys1938Phe)
c.6620G>T (p.Cys2207Phe)
c.6722G>T (p.Cys2241Phe)
c.6698G>T (p.Cys2233Phe)
c.6665G>T (p.Cys2222Phe)
c.6641G>T (p.Cys2214Phe)
c.6596G>T (p.Cys2199Phe)
3g.53811391C>ACA353259899CACNA1Dc.6531C>A (p.Cys2177Ter)
n.1860C>A
n.3470C>A
n.1906C>A
c.6471C>A (p.Cys2157Ter)
c.6399C>A (p.Cys2133Ter)
c.2592C>A
c.6426C>A (p.Cys2142Ter)
n.1898C>A
c.6498C>A (p.Cys2166Ter)
c.5550C>A (p.Cys1850Ter)
c.6726C>A (p.Cys2242Ter)
c.6615C>A (p.Cys2205Ter)
c.6537C>A (p.Cys2179Ter)
c.6189C>A (p.Cys2063Ter)
c.5814C>A (p.Cys1938Ter)
c.6621C>A (p.Cys2207Ter)
c.6723C>A (p.Cys2241Ter)
c.6699C>A (p.Cys2233Ter)
c.6666C>A (p.Cys2222Ter)
c.6642C>A (p.Cys2214Ter)
c.6597C>A (p.Cys2199Ter)
 gnomAD v4
3g.53811391C>GCA353259901CACNA1Dc.6531C>G (p.Cys2177Trp)
n.1860C>G
n.3470C>G
n.1906C>G
c.6471C>G (p.Cys2157Trp)
c.6399C>G (p.Cys2133Trp)
c.2592C>G
c.6426C>G (p.Cys2142Trp)
n.1898C>G
c.6498C>G (p.Cys2166Trp)
c.5550C>G (p.Cys1850Trp)
c.6726C>G (p.Cys2242Trp)
c.6615C>G (p.Cys2205Trp)
c.6537C>G (p.Cys2179Trp)
c.6189C>G (p.Cys2063Trp)
c.5814C>G (p.Cys1938Trp)
c.6621C>G (p.Cys2207Trp)
c.6723C>G (p.Cys2241Trp)
c.6699C>G (p.Cys2233Trp)
c.6666C>G (p.Cys2222Trp)
c.6642C>G (p.Cys2214Trp)
c.6597C>G (p.Cys2199Trp)
3g.53811391C>TCA433895942CACNA1Dc.6531C>T (p.Cys2177=)
n.1860C>T
n.3470C>T
n.1906C>T
c.6471C>T (p.Cys2157=)
c.6399C>T (p.Cys2133=)
c.2592C>T
c.6426C>T (p.Cys2142=)
n.1898C>T
c.6498C>T (p.Cys2166=)
c.5550C>T (p.Cys1850=)
c.6726C>T (p.Cys2242=)
c.6615C>T (p.Cys2205=)
c.6537C>T (p.Cys2179=)
c.6189C>T (p.Cys2063=)
c.5814C>T (p.Cys1938=)
c.6621C>T (p.Cys2207=)
c.6723C>T (p.Cys2241=)
c.6699C>T (p.Cys2233=)
c.6666C>T (p.Cys2222=)
c.6642C>T (p.Cys2214=)
c.6597C>T (p.Cys2199=)
 gnomAD v4
3g.53811393_53811395dupCA2702651476CACNA1Dc.6533_6535dup (p.Ile2178_Thr2179insIle)
n.1862_1864dup
n.3472_3474dup
n.1908_1910dup
c.6473_6475dup (p.Ile2158_Thr2159insIle)
c.6401_6403dup (p.Ile2134_Thr2135insIle)
c.2594_2596dup
c.6428_6430dup (p.Ile2143_Thr2144insIle)
n.1900_1902dup
c.6500_6502dup (p.Ile2167_Thr2168insIle)
c.5552_5554dup (p.Ile1851_Thr1852insIle)
c.6728_6730dup (p.Ile2243_Thr2244insIle)
c.6617_6619dup (p.Ile2206_Thr2207insIle)
c.6539_6541dup (p.Ile2180_Thr2181insIle)
c.6191_6193dup (p.Ile2064_Thr2065insIle)
c.5816_5818dup (p.Ile1939_Thr1940insIle)
c.6623_6625dup (p.Ile2208_Thr2209insIle)
c.6725_6727dup (p.Ile2242_Thr2243insIle)
c.6701_6703dup (p.Ile2234_Thr2235insIle)
c.6668_6670dup (p.Ile2223_Thr2224insIle)
c.6644_6646dup (p.Ile2215_Thr2216insIle)
c.6599_6601dup (p.Ile2200_Thr2201insIle)
 dbSNP
3g.53811392A=CA1365489065CACNA1Dc.6532A= (p.Ile2178=)
n.1861A=
n.3471A=
n.1907A=
c.6472A= (p.Ile2158=)
c.6400A= (p.Ile2134=)
c.2593A=
c.6427A= (p.Ile2143=)
n.1899A=
c.6499A= (p.Ile2167=)
c.5551A= (p.Ile1851=)
c.6727A= (p.Ile2243=)
c.6616A= (p.Ile2206=)
c.6538A= (p.Ile2180=)
c.6190A= (p.Ile2064=)
c.5815A= (p.Ile1939=)
c.6622A= (p.Ile2208=)
c.6724A= (p.Ile2242=)
c.6700A= (p.Ile2234=)
c.6667A= (p.Ile2223=)
c.6643A= (p.Ile2215=)
c.6598A= (p.Ile2200=)
3g.53811392A>CCA353259904CACNA1Dc.6532A>C (p.Ile2178Leu)
n.1861A>C
n.3471A>C
n.1907A>C
c.6472A>C (p.Ile2158Leu)
c.6400A>C (p.Ile2134Leu)
c.2593A>C
c.6427A>C (p.Ile2143Leu)
n.1899A>C
c.6499A>C (p.Ile2167Leu)
c.5551A>C (p.Ile1851Leu)
c.6727A>C (p.Ile2243Leu)
c.6616A>C (p.Ile2206Leu)
c.6538A>C (p.Ile2180Leu)
c.6190A>C (p.Ile2064Leu)
c.5815A>C (p.Ile1939Leu)
c.6622A>C (p.Ile2208Leu)
c.6724A>C (p.Ile2242Leu)
c.6700A>C (p.Ile2234Leu)
c.6667A>C (p.Ile2223Leu)
c.6643A>C (p.Ile2215Leu)
c.6598A>C (p.Ile2200Leu)
3g.53811392A>GCA2455453CACNA1Dc.6532A>G (p.Ile2178Val)
n.1861A>G
n.3471A>G
n.1907A>G
c.6472A>G (p.Ile2158Val)
c.6400A>G (p.Ile2134Val)
c.2593A>G
c.6427A>G (p.Ile2143Val)
n.1899A>G
c.6499A>G (p.Ile2167Val)
c.5551A>G (p.Ile1851Val)
c.6727A>G (p.Ile2243Val)
c.6616A>G (p.Ile2206Val)
c.6538A>G (p.Ile2180Val)
c.6190A>G (p.Ile2064Val)
c.5815A>G (p.Ile1939Val)
c.6622A>G (p.Ile2208Val)
c.6724A>G (p.Ile2242Val)
c.6700A>G (p.Ile2234Val)
c.6667A>G (p.Ile2223Val)
c.6643A>G (p.Ile2215Val)
c.6598A>G (p.Ile2200Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53811392A>TCA353259908CACNA1Dc.6532A>T (p.Ile2178Phe)
n.1861A>T
n.3471A>T
n.1907A>T
c.6472A>T (p.Ile2158Phe)
c.6400A>T (p.Ile2134Phe)
c.2593A>T
c.6427A>T (p.Ile2143Phe)
n.1899A>T
c.6499A>T (p.Ile2167Phe)
c.5551A>T (p.Ile1851Phe)
c.6727A>T (p.Ile2243Phe)
c.6616A>T (p.Ile2206Phe)
c.6538A>T (p.Ile2180Phe)
c.6190A>T (p.Ile2064Phe)
c.5815A>T (p.Ile1939Phe)
c.6622A>T (p.Ile2208Phe)
c.6724A>T (p.Ile2242Phe)
c.6700A>T (p.Ile2234Phe)
c.6667A>T (p.Ile2223Phe)
c.6643A>T (p.Ile2215Phe)
c.6598A>T (p.Ile2200Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.53811393T>ACA353259910CACNA1Dc.6533T>A (p.Ile2178Asn)
n.1862T>A
n.3472T>A
n.1908T>A
c.6473T>A (p.Ile2158Asn)
c.6401T>A (p.Ile2134Asn)
c.2594T>A
c.6428T>A (p.Ile2143Asn)
n.1900T>A
c.6500T>A (p.Ile2167Asn)
c.5552T>A (p.Ile1851Asn)
c.6728T>A (p.Ile2243Asn)
c.6617T>A (p.Ile2206Asn)
c.6539T>A (p.Ile2180Asn)
c.6191T>A (p.Ile2064Asn)
c.5816T>A (p.Ile1939Asn)
c.6623T>A (p.Ile2208Asn)
c.6725T>A (p.Ile2242Asn)
c.6701T>A (p.Ile2234Asn)
c.6668T>A (p.Ile2223Asn)
c.6644T>A (p.Ile2215Asn)
c.6599T>A (p.Ile2200Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811393T>CCA353259912CACNA1Dc.6533T>C (p.Ile2178Thr)
n.1862T>C
n.3472T>C
n.1908T>C
c.6473T>C (p.Ile2158Thr)
c.6401T>C (p.Ile2134Thr)
c.2594T>C
c.6428T>C (p.Ile2143Thr)
n.1900T>C
c.6500T>C (p.Ile2167Thr)
c.5552T>C (p.Ile1851Thr)
c.6728T>C (p.Ile2243Thr)
c.6617T>C (p.Ile2206Thr)
c.6539T>C (p.Ile2180Thr)
c.6191T>C (p.Ile2064Thr)
c.5816T>C (p.Ile1939Thr)
c.6623T>C (p.Ile2208Thr)
c.6725T>C (p.Ile2242Thr)
c.6701T>C (p.Ile2234Thr)
c.6668T>C (p.Ile2223Thr)
c.6644T>C (p.Ile2215Thr)
c.6599T>C (p.Ile2200Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811393T>GCA353259914CACNA1Dc.6533T>G (p.Ile2178Ser)
n.1862T>G
n.3472T>G
n.1908T>G
c.6473T>G (p.Ile2158Ser)
c.6401T>G (p.Ile2134Ser)
c.2594T>G
c.6428T>G (p.Ile2143Ser)
n.1900T>G
c.6500T>G (p.Ile2167Ser)
c.5552T>G (p.Ile1851Ser)
c.6728T>G (p.Ile2243Ser)
c.6617T>G (p.Ile2206Ser)
c.6539T>G (p.Ile2180Ser)
c.6191T>G (p.Ile2064Ser)
c.5816T>G (p.Ile1939Ser)
c.6623T>G (p.Ile2208Ser)
c.6725T>G (p.Ile2242Ser)
c.6701T>G (p.Ile2234Ser)
c.6668T>G (p.Ile2223Ser)
c.6644T>G (p.Ile2215Ser)
c.6599T>G (p.Ile2200Ser)
3g.53811393T=CA1365489066CACNA1Dc.6533T= (p.Ile2178=)
n.1862T=
n.3472T=
n.1908T=
c.6473T= (p.Ile2158=)
c.6401T= (p.Ile2134=)
c.2594T=
c.6428T= (p.Ile2143=)
n.1900T=
c.6500T= (p.Ile2167=)
c.5552T= (p.Ile1851=)
c.6728T= (p.Ile2243=)
c.6617T= (p.Ile2206=)
c.6539T= (p.Ile2180=)
c.6191T= (p.Ile2064=)
c.5816T= (p.Ile1939=)
c.6623T= (p.Ile2208=)
c.6725T= (p.Ile2242=)
c.6701T= (p.Ile2234=)
c.6668T= (p.Ile2223=)
c.6644T= (p.Ile2215=)
c.6599T= (p.Ile2200=)
3g.53811394C>ACA433895948CACNA1Dc.6534C>A (p.Ile2178=)
n.1863C>A
n.3473C>A
n.1909C>A
c.6474C>A (p.Ile2158=)
c.6402C>A (p.Ile2134=)
c.2595C>A
c.6429C>A (p.Ile2143=)
n.1901C>A
c.6501C>A (p.Ile2167=)
c.5553C>A (p.Ile1851=)
c.6729C>A (p.Ile2243=)
c.6618C>A (p.Ile2206=)
c.6540C>A (p.Ile2180=)
c.6192C>A (p.Ile2064=)
c.5817C>A (p.Ile1939=)
c.6624C>A (p.Ile2208=)
c.6726C>A (p.Ile2242=)
c.6702C>A (p.Ile2234=)
c.6669C>A (p.Ile2223=)
c.6645C>A (p.Ile2215=)
c.6600C>A (p.Ile2200=)
 gnomAD v4
3g.53811394C>GCA353259917CACNA1Dc.6534C>G (p.Ile2178Met)
n.1863C>G
n.3473C>G
n.1909C>G
c.6474C>G (p.Ile2158Met)
c.6402C>G (p.Ile2134Met)
c.2595C>G
c.6429C>G (p.Ile2143Met)
n.1901C>G
c.6501C>G (p.Ile2167Met)
c.5553C>G (p.Ile1851Met)
c.6729C>G (p.Ile2243Met)
c.6618C>G (p.Ile2206Met)
c.6540C>G (p.Ile2180Met)
c.6192C>G (p.Ile2064Met)
c.5817C>G (p.Ile1939Met)
c.6624C>G (p.Ile2208Met)
c.6726C>G (p.Ile2242Met)
c.6702C>G (p.Ile2234Met)
c.6669C>G (p.Ile2223Met)
c.6645C>G (p.Ile2215Met)
c.6600C>G (p.Ile2200Met)
3g.53811394C>TCA433895949CACNA1Dc.6534C>T (p.Ile2178=)
n.1863C>T
n.3473C>T
n.1909C>T
c.6474C>T (p.Ile2158=)
c.6402C>T (p.Ile2134=)
c.2595C>T
c.6429C>T (p.Ile2143=)
n.1901C>T
c.6501C>T (p.Ile2167=)
c.5553C>T (p.Ile1851=)
c.6729C>T (p.Ile2243=)
c.6618C>T (p.Ile2206=)
c.6540C>T (p.Ile2180=)
c.6192C>T (p.Ile2064=)
c.5817C>T (p.Ile1939=)
c.6624C>T (p.Ile2208=)
c.6726C>T (p.Ile2242=)
c.6702C>T (p.Ile2234=)
c.6669C>T (p.Ile2223=)
c.6645C>T (p.Ile2215=)
c.6600C>T (p.Ile2200=)
3g.53811395A=CA1365489067CACNA1Dc.6535A= (p.Thr2179=)
n.1864A=
n.3474A=
n.1910A=
c.6475A= (p.Thr2159=)
c.6403A= (p.Thr2135=)
c.2596A=
c.6430A= (p.Thr2144=)
n.1902A=
c.6502A= (p.Thr2168=)
c.5554A= (p.Thr1852=)
c.6730A= (p.Thr2244=)
c.6619A= (p.Thr2207=)
c.6541A= (p.Thr2181=)
c.6193A= (p.Thr2065=)
c.5818A= (p.Thr1940=)
c.6625A= (p.Thr2209=)
c.6727A= (p.Thr2243=)
c.6703A= (p.Thr2235=)
c.6670A= (p.Thr2224=)
c.6646A= (p.Thr2216=)
c.6601A= (p.Thr2201=)
3g.53811395A>CCA353259923CACNA1Dc.6535A>C (p.Thr2179Pro)
n.1864A>C
n.3474A>C
n.1910A>C
c.6475A>C (p.Thr2159Pro)
c.6403A>C (p.Thr2135Pro)
c.2596A>C
c.6430A>C (p.Thr2144Pro)
n.1902A>C
c.6502A>C (p.Thr2168Pro)
c.5554A>C (p.Thr1852Pro)
c.6730A>C (p.Thr2244Pro)
c.6619A>C (p.Thr2207Pro)
c.6541A>C (p.Thr2181Pro)
c.6193A>C (p.Thr2065Pro)
c.5818A>C (p.Thr1940Pro)
c.6625A>C (p.Thr2209Pro)
c.6727A>C (p.Thr2243Pro)
c.6703A>C (p.Thr2235Pro)
c.6670A>C (p.Thr2224Pro)
c.6646A>C (p.Thr2216Pro)
c.6601A>C (p.Thr2201Pro)
3g.53811395A>GCA353259921CACNA1Dc.6535A>G (p.Thr2179Ala)
n.1864A>G
n.3474A>G
n.1910A>G
c.6475A>G (p.Thr2159Ala)
c.6403A>G (p.Thr2135Ala)
c.2596A>G
c.6430A>G (p.Thr2144Ala)
n.1902A>G
c.6502A>G (p.Thr2168Ala)
c.5554A>G (p.Thr1852Ala)
c.6730A>G (p.Thr2244Ala)
c.6619A>G (p.Thr2207Ala)
c.6541A>G (p.Thr2181Ala)
c.6193A>G (p.Thr2065Ala)
c.5818A>G (p.Thr1940Ala)
c.6625A>G (p.Thr2209Ala)
c.6727A>G (p.Thr2243Ala)
c.6703A>G (p.Thr2235Ala)
c.6670A>G (p.Thr2224Ala)
c.6646A>G (p.Thr2216Ala)
c.6601A>G (p.Thr2201Ala)
 dbSNP gnomAD v4
3g.53811395A>TCA353259925CACNA1Dc.6535A>T (p.Thr2179Ser)
n.1864A>T
n.3474A>T
n.1910A>T
c.6475A>T (p.Thr2159Ser)
c.6403A>T (p.Thr2135Ser)
c.2596A>T
c.6430A>T (p.Thr2144Ser)
n.1902A>T
c.6502A>T (p.Thr2168Ser)
c.5554A>T (p.Thr1852Ser)
c.6730A>T (p.Thr2244Ser)
c.6619A>T (p.Thr2207Ser)
c.6541A>T (p.Thr2181Ser)
c.6193A>T (p.Thr2065Ser)
c.5818A>T (p.Thr1940Ser)
c.6625A>T (p.Thr2209Ser)
c.6727A>T (p.Thr2243Ser)
c.6703A>T (p.Thr2235Ser)
c.6670A>T (p.Thr2224Ser)
c.6646A>T (p.Thr2216Ser)
c.6601A>T (p.Thr2201Ser)
 gnomAD v4 COSMIC
3g.53811396C>ACA353259928CACNA1Dc.6536C>A (p.Thr2179Asn)
n.1865C>A
n.3475C>A
n.1911C>A
c.6476C>A (p.Thr2159Asn)
c.6404C>A (p.Thr2135Asn)
c.2597C>A
c.6431C>A (p.Thr2144Asn)
n.1903C>A
c.6503C>A (p.Thr2168Asn)
c.5555C>A (p.Thr1852Asn)
c.6731C>A (p.Thr2244Asn)
c.6620C>A (p.Thr2207Asn)
c.6542C>A (p.Thr2181Asn)
c.6194C>A (p.Thr2065Asn)
c.5819C>A (p.Thr1940Asn)
c.6626C>A (p.Thr2209Asn)
c.6728C>A (p.Thr2243Asn)
c.6704C>A (p.Thr2235Asn)
c.6671C>A (p.Thr2224Asn)
c.6647C>A (p.Thr2216Asn)
c.6602C>A (p.Thr2201Asn)
 gnomAD v4
3g.53811396C>GCA353259932CACNA1Dc.6536C>G (p.Thr2179Ser)
n.1865C>G
n.3475C>G
n.1911C>G
c.6476C>G (p.Thr2159Ser)
c.6404C>G (p.Thr2135Ser)
c.2597C>G
c.6431C>G (p.Thr2144Ser)
n.1903C>G
c.6503C>G (p.Thr2168Ser)
c.5555C>G (p.Thr1852Ser)
c.6731C>G (p.Thr2244Ser)
c.6620C>G (p.Thr2207Ser)
c.6542C>G (p.Thr2181Ser)
c.6194C>G (p.Thr2065Ser)
c.5819C>G (p.Thr1940Ser)
c.6626C>G (p.Thr2209Ser)
c.6728C>G (p.Thr2243Ser)
c.6704C>G (p.Thr2235Ser)
c.6671C>G (p.Thr2224Ser)
c.6647C>G (p.Thr2216Ser)
c.6602C>G (p.Thr2201Ser)
3g.53811396C>TCA353259930CACNA1Dc.6536C>T (p.Thr2179Ile)
n.1865C>T
n.3475C>T
n.1911C>T
c.6476C>T (p.Thr2159Ile)
c.6404C>T (p.Thr2135Ile)
c.2597C>T
c.6431C>T (p.Thr2144Ile)
n.1903C>T
c.6503C>T (p.Thr2168Ile)
c.5555C>T (p.Thr1852Ile)
c.6731C>T (p.Thr2244Ile)
c.6620C>T (p.Thr2207Ile)
c.6542C>T (p.Thr2181Ile)
c.6194C>T (p.Thr2065Ile)
c.5819C>T (p.Thr1940Ile)
c.6626C>T (p.Thr2209Ile)
c.6728C>T (p.Thr2243Ile)
c.6704C>T (p.Thr2235Ile)
c.6671C>T (p.Thr2224Ile)
c.6647C>T (p.Thr2216Ile)
c.6602C>T (p.Thr2201Ile)
 gnomAD v4
3g.53811397C>ACA433895955CACNA1Dc.6537C>A (p.Thr2179=)
n.1866C>A
n.3476C>A
n.1912C>A
c.6477C>A (p.Thr2159=)
c.6405C>A (p.Thr2135=)
c.2598C>A
c.6432C>A (p.Thr2144=)
n.1904C>A
c.6504C>A (p.Thr2168=)
c.5556C>A (p.Thr1852=)
c.6732C>A (p.Thr2244=)
c.6621C>A (p.Thr2207=)
c.6543C>A (p.Thr2181=)
c.6195C>A (p.Thr2065=)
c.5820C>A (p.Thr1940=)
c.6627C>A (p.Thr2209=)
c.6729C>A (p.Thr2243=)
c.6705C>A (p.Thr2235=)
c.6672C>A (p.Thr2224=)
c.6648C>A (p.Thr2216=)
c.6603C>A (p.Thr2201=)
 gnomAD v4
3g.53811397C>GCA433895956CACNA1Dc.6537C>G (p.Thr2179=)
n.1866C>G
n.3476C>G
n.1912C>G
c.6477C>G (p.Thr2159=)
c.6405C>G (p.Thr2135=)
c.2598C>G
c.6432C>G (p.Thr2144=)
n.1904C>G
c.6504C>G (p.Thr2168=)
c.5556C>G (p.Thr1852=)
c.6732C>G (p.Thr2244=)
c.6621C>G (p.Thr2207=)
c.6543C>G (p.Thr2181=)
c.6195C>G (p.Thr2065=)
c.5820C>G (p.Thr1940=)
c.6627C>G (p.Thr2209=)
c.6729C>G (p.Thr2243=)
c.6705C>G (p.Thr2235=)
c.6672C>G (p.Thr2224=)
c.6648C>G (p.Thr2216=)
c.6603C>G (p.Thr2201=)
3g.53811397C>TCA433895954CACNA1Dc.6537C>T (p.Thr2179=)
n.1866C>T
n.3476C>T
n.1912C>T
c.6477C>T (p.Thr2159=)
c.6405C>T (p.Thr2135=)
c.2598C>T
c.6432C>T (p.Thr2144=)
n.1904C>T
c.6504C>T (p.Thr2168=)
c.5556C>T (p.Thr1852=)
c.6732C>T (p.Thr2244=)
c.6621C>T (p.Thr2207=)
c.6543C>T (p.Thr2181=)
c.6195C>T (p.Thr2065=)
c.5820C>T (p.Thr1940=)
c.6627C>T (p.Thr2209=)
c.6729C>T (p.Thr2243=)
c.6705C>T (p.Thr2235=)
c.6672C>T (p.Thr2224=)
c.6648C>T (p.Thr2216=)
c.6603C>T (p.Thr2201=)
 gnomAD v4
3g.53811398A=CA1365489068CACNA1Dc.6538A= (p.Thr2180=)
n.1867A=
n.3477A=
n.1913A=
c.6478A= (p.Thr2160=)
c.6406A= (p.Thr2136=)
c.2599A=
c.6433A= (p.Thr2145=)
n.1905A=
c.6505A= (p.Thr2169=)
c.5557A= (p.Thr1853=)
c.6733A= (p.Thr2245=)
c.6622A= (p.Thr2208=)
c.6544A= (p.Thr2182=)
c.6196A= (p.Thr2066=)
c.5821A= (p.Thr1941=)
c.6628A= (p.Thr2210=)
c.6730A= (p.Thr2244=)
c.6706A= (p.Thr2236=)
c.6673A= (p.Thr2225=)
c.6649A= (p.Thr2217=)
c.6604A= (p.Thr2202=)
3g.53811398A>CCA74870282CACNA1Dc.6538A>C (p.Thr2180Pro)
n.1867A>C
n.3477A>C
n.1913A>C
c.6478A>C (p.Thr2160Pro)
c.6406A>C (p.Thr2136Pro)
c.2599A>C
c.6433A>C (p.Thr2145Pro)
n.1905A>C
c.6505A>C (p.Thr2169Pro)
c.5557A>C (p.Thr1853Pro)
c.6733A>C (p.Thr2245Pro)
c.6622A>C (p.Thr2208Pro)
c.6544A>C (p.Thr2182Pro)
c.6196A>C (p.Thr2066Pro)
c.5821A>C (p.Thr1941Pro)
c.6628A>C (p.Thr2210Pro)
c.6730A>C (p.Thr2244Pro)
c.6706A>C (p.Thr2236Pro)
c.6673A>C (p.Thr2225Pro)
c.6649A>C (p.Thr2217Pro)
c.6604A>C (p.Thr2202Pro)
 dbSNP
3g.53811398A>GCA2455454CACNA1Dc.6538A>G (p.Thr2180Ala)
n.1867A>G
n.3477A>G
n.1913A>G
c.6478A>G (p.Thr2160Ala)
c.6406A>G (p.Thr2136Ala)
c.2599A>G
c.6433A>G (p.Thr2145Ala)
n.1905A>G
c.6505A>G (p.Thr2169Ala)
c.5557A>G (p.Thr1853Ala)
c.6733A>G (p.Thr2245Ala)
c.6622A>G (p.Thr2208Ala)
c.6544A>G (p.Thr2182Ala)
c.6196A>G (p.Thr2066Ala)
c.5821A>G (p.Thr1941Ala)
c.6628A>G (p.Thr2210Ala)
c.6730A>G (p.Thr2244Ala)
c.6706A>G (p.Thr2236Ala)
c.6673A>G (p.Thr2225Ala)
c.6649A>G (p.Thr2217Ala)
c.6604A>G (p.Thr2202Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811398A>TCA353259939CACNA1Dc.6538A>T (p.Thr2180Ser)
n.1867A>T
n.3477A>T
n.1913A>T
c.6478A>T (p.Thr2160Ser)
c.6406A>T (p.Thr2136Ser)
c.2599A>T
c.6433A>T (p.Thr2145Ser)
n.1905A>T
c.6505A>T (p.Thr2169Ser)
c.5557A>T (p.Thr1853Ser)
c.6733A>T (p.Thr2245Ser)
c.6622A>T (p.Thr2208Ser)
c.6544A>T (p.Thr2182Ser)
c.6196A>T (p.Thr2066Ser)
c.5821A>T (p.Thr1941Ser)
c.6628A>T (p.Thr2210Ser)
c.6730A>T (p.Thr2244Ser)
c.6706A>T (p.Thr2236Ser)
c.6673A>T (p.Thr2225Ser)
c.6649A>T (p.Thr2217Ser)
c.6604A>T (p.Thr2202Ser)
3g.53811399C>ACA353259944CACNA1Dc.6539C>A (p.Thr2180Asn)
n.1868C>A
n.3478C>A
n.1914C>A
c.6479C>A (p.Thr2160Asn)
c.6407C>A (p.Thr2136Asn)
c.2600C>A
c.6434C>A (p.Thr2145Asn)
n.1906C>A
c.6506C>A (p.Thr2169Asn)
c.5558C>A (p.Thr1853Asn)
c.6734C>A (p.Thr2245Asn)
c.6623C>A (p.Thr2208Asn)
c.6545C>A (p.Thr2182Asn)
c.6197C>A (p.Thr2066Asn)
c.5822C>A (p.Thr1941Asn)
c.6629C>A (p.Thr2210Asn)
c.6731C>A (p.Thr2244Asn)
c.6707C>A (p.Thr2236Asn)
c.6674C>A (p.Thr2225Asn)
c.6650C>A (p.Thr2217Asn)
c.6605C>A (p.Thr2202Asn)
 gnomAD v4
3g.53811399C=CA1365489069CACNA1Dc.6539C= (p.Thr2180=)
n.1868C=
n.3478C=
n.1914C=
c.6479C= (p.Thr2160=)
c.6407C= (p.Thr2136=)
c.2600C=
c.6434C= (p.Thr2145=)
n.1906C=
c.6506C= (p.Thr2169=)
c.5558C= (p.Thr1853=)
c.6734C= (p.Thr2245=)
c.6623C= (p.Thr2208=)
c.6545C= (p.Thr2182=)
c.6197C= (p.Thr2066=)
c.5822C= (p.Thr1941=)
c.6629C= (p.Thr2210=)
c.6731C= (p.Thr2244=)
c.6707C= (p.Thr2236=)
c.6674C= (p.Thr2225=)
c.6650C= (p.Thr2217=)
c.6605C= (p.Thr2202=)
3g.53811399C>GCA353259946CACNA1Dc.6539C>G (p.Thr2180Ser)
n.1868C>G
n.3478C>G
n.1914C>G
c.6479C>G (p.Thr2160Ser)
c.6407C>G (p.Thr2136Ser)
c.2600C>G
c.6434C>G (p.Thr2145Ser)
n.1906C>G
c.6506C>G (p.Thr2169Ser)
c.5558C>G (p.Thr1853Ser)
c.6734C>G (p.Thr2245Ser)
c.6623C>G (p.Thr2208Ser)
c.6545C>G (p.Thr2182Ser)
c.6197C>G (p.Thr2066Ser)
c.5822C>G (p.Thr1941Ser)
c.6629C>G (p.Thr2210Ser)
c.6731C>G (p.Thr2244Ser)
c.6707C>G (p.Thr2236Ser)
c.6674C>G (p.Thr2225Ser)
c.6650C>G (p.Thr2217Ser)
c.6605C>G (p.Thr2202Ser)
3g.53811399C>TCA353259947CACNA1Dc.6539C>T (p.Thr2180Ile)
n.1868C>T
n.3478C>T
n.1914C>T
c.6479C>T (p.Thr2160Ile)
c.6407C>T (p.Thr2136Ile)
c.2600C>T
c.6434C>T (p.Thr2145Ile)
n.1906C>T
c.6506C>T (p.Thr2169Ile)
c.5558C>T (p.Thr1853Ile)
c.6734C>T (p.Thr2245Ile)
c.6623C>T (p.Thr2208Ile)
c.6545C>T (p.Thr2182Ile)
c.6197C>T (p.Thr2066Ile)
c.5822C>T (p.Thr1941Ile)
c.6629C>T (p.Thr2210Ile)
c.6731C>T (p.Thr2244Ile)
c.6707C>T (p.Thr2236Ile)
c.6674C>T (p.Thr2225Ile)
c.6650C>T (p.Thr2217Ile)
c.6605C>T (p.Thr2202Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811400C>ACA433895963CACNA1Dc.6540C>A (p.Thr2180=)
n.1869C>A
n.3479C>A
n.1915C>A
c.6480C>A (p.Thr2160=)
c.6408C>A (p.Thr2136=)
c.2601C>A
c.6435C>A (p.Thr2145=)
n.1907C>A
c.6507C>A (p.Thr2169=)
c.5559C>A (p.Thr1853=)
c.6735C>A (p.Thr2245=)
c.6624C>A (p.Thr2208=)
c.6546C>A (p.Thr2182=)
c.6198C>A (p.Thr2066=)
c.5823C>A (p.Thr1941=)
c.6630C>A (p.Thr2210=)
c.6732C>A (p.Thr2244=)
c.6708C>A (p.Thr2236=)
c.6675C>A (p.Thr2225=)
c.6651C>A (p.Thr2217=)
c.6606C>A (p.Thr2202=)
 gnomAD v4
3g.53811400C>GCA433895964CACNA1Dc.6540C>G (p.Thr2180=)
n.1869C>G
n.3479C>G
n.1915C>G
c.6480C>G (p.Thr2160=)
c.6408C>G (p.Thr2136=)
c.2601C>G
c.6435C>G (p.Thr2145=)
n.1907C>G
c.6507C>G (p.Thr2169=)
c.5559C>G (p.Thr1853=)
c.6735C>G (p.Thr2245=)
c.6624C>G (p.Thr2208=)
c.6546C>G (p.Thr2182=)
c.6198C>G (p.Thr2066=)
c.5823C>G (p.Thr1941=)
c.6630C>G (p.Thr2210=)
c.6732C>G (p.Thr2244=)
c.6708C>G (p.Thr2236=)
c.6675C>G (p.Thr2225=)
c.6651C>G (p.Thr2217=)
c.6606C>G (p.Thr2202=)
3g.53811400C>TCA433895966CACNA1Dc.6540C>T (p.Thr2180=)
n.1869C>T
n.3479C>T
n.1915C>T
c.6480C>T (p.Thr2160=)
c.6408C>T (p.Thr2136=)
c.2601C>T
c.6435C>T (p.Thr2145=)
n.1907C>T
c.6507C>T (p.Thr2169=)
c.5559C>T (p.Thr1853=)
c.6735C>T (p.Thr2245=)
c.6624C>T (p.Thr2208=)
c.6546C>T (p.Thr2182=)
c.6198C>T (p.Thr2066=)
c.5823C>T (p.Thr1941=)
c.6630C>T (p.Thr2210=)
c.6732C>T (p.Thr2244=)
c.6708C>T (p.Thr2236=)
c.6675C>T (p.Thr2225=)
c.6651C>T (p.Thr2217=)
c.6606C>T (p.Thr2202=)
3g.53811401T>ACA353259951CACNA1Dc.6541T>A (p.Leu2181Met)
n.1870T>A
n.3480T>A
n.1916T>A
c.6481T>A (p.Leu2161Met)
c.6409T>A (p.Leu2137Met)
c.2602T>A
c.6436T>A (p.Leu2146Met)
n.1908T>A
c.6508T>A (p.Leu2170Met)
c.5560T>A (p.Leu1854Met)
c.6736T>A (p.Leu2246Met)
c.6625T>A (p.Leu2209Met)
c.6547T>A (p.Leu2183Met)
c.6199T>A (p.Leu2067Met)
c.5824T>A (p.Leu1942Met)
c.6631T>A (p.Leu2211Met)
c.6733T>A (p.Leu2245Met)
c.6709T>A (p.Leu2237Met)
c.6676T>A (p.Leu2226Met)
c.6652T>A (p.Leu2218Met)
c.6607T>A (p.Leu2203Met)
 gnomAD v4
3g.53811401T>CCA433895968CACNA1Dc.6541T>C (p.Leu2181=)
n.1870T>C
n.3480T>C
n.1916T>C
c.6481T>C (p.Leu2161=)
c.6409T>C (p.Leu2137=)
c.2602T>C
c.6436T>C (p.Leu2146=)
n.1908T>C
c.6508T>C (p.Leu2170=)
c.5560T>C (p.Leu1854=)
c.6736T>C (p.Leu2246=)
c.6625T>C (p.Leu2209=)
c.6547T>C (p.Leu2183=)
c.6199T>C (p.Leu2067=)
c.5824T>C (p.Leu1942=)
c.6631T>C (p.Leu2211=)
c.6733T>C (p.Leu2245=)
c.6709T>C (p.Leu2237=)
c.6676T>C (p.Leu2226=)
c.6652T>C (p.Leu2218=)
c.6607T>C (p.Leu2203=)
 gnomAD v4
3g.53811401T>GCA353259953CACNA1Dc.6541T>G (p.Leu2181Val)
n.1870T>G
n.3480T>G
n.1916T>G
c.6481T>G (p.Leu2161Val)
c.6409T>G (p.Leu2137Val)
c.2602T>G
c.6436T>G (p.Leu2146Val)
n.1908T>G
c.6508T>G (p.Leu2170Val)
c.5560T>G (p.Leu1854Val)
c.6736T>G (p.Leu2246Val)
c.6625T>G (p.Leu2209Val)
c.6547T>G (p.Leu2183Val)
c.6199T>G (p.Leu2067Val)
c.5824T>G (p.Leu1942Val)
c.6631T>G (p.Leu2211Val)
c.6733T>G (p.Leu2245Val)
c.6709T>G (p.Leu2237Val)
c.6676T>G (p.Leu2226Val)
c.6652T>G (p.Leu2218Val)
c.6607T>G (p.Leu2203Val)
3g.53811402T>ACA353259956CACNA1Dc.6542T>A (p.Leu2181Ter)
n.1871T>A
n.3481T>A
n.1917T>A
c.6482T>A (p.Leu2161Ter)
c.6410T>A (p.Leu2137Ter)
c.2603T>A
c.6437T>A (p.Leu2146Ter)
n.1909T>A
c.6509T>A (p.Leu2170Ter)
c.5561T>A (p.Leu1854Ter)
c.6737T>A (p.Leu2246Ter)
c.6626T>A (p.Leu2209Ter)
c.6548T>A (p.Leu2183Ter)
c.6200T>A (p.Leu2067Ter)
c.5825T>A (p.Leu1942Ter)
c.6632T>A (p.Leu2211Ter)
c.6734T>A (p.Leu2245Ter)
c.6710T>A (p.Leu2237Ter)
c.6677T>A (p.Leu2226Ter)
c.6653T>A (p.Leu2218Ter)
c.6608T>A (p.Leu2203Ter)
3g.53811402T>CCA353259958CACNA1Dc.6542T>C (p.Leu2181Ser)
n.1871T>C
n.3481T>C
n.1917T>C
c.6482T>C (p.Leu2161Ser)
c.6410T>C (p.Leu2137Ser)
c.2603T>C
c.6437T>C (p.Leu2146Ser)
n.1909T>C
c.6509T>C (p.Leu2170Ser)
c.5561T>C (p.Leu1854Ser)
c.6737T>C (p.Leu2246Ser)
c.6626T>C (p.Leu2209Ser)
c.6548T>C (p.Leu2183Ser)
c.6200T>C (p.Leu2067Ser)
c.5825T>C (p.Leu1942Ser)
c.6632T>C (p.Leu2211Ser)
c.6734T>C (p.Leu2245Ser)
c.6710T>C (p.Leu2237Ser)
c.6677T>C (p.Leu2226Ser)
c.6653T>C (p.Leu2218Ser)
c.6608T>C (p.Leu2203Ser)
 dbSNP
3g.53811402T>GCA353259960CACNA1Dc.6542T>G (p.Leu2181Trp)
n.1871T>G
n.3481T>G
n.1917T>G
c.6482T>G (p.Leu2161Trp)
c.6410T>G (p.Leu2137Trp)
c.2603T>G
c.6437T>G (p.Leu2146Trp)
n.1909T>G
c.6509T>G (p.Leu2170Trp)
c.5561T>G (p.Leu1854Trp)
c.6737T>G (p.Leu2246Trp)
c.6626T>G (p.Leu2209Trp)
c.6548T>G (p.Leu2183Trp)
c.6200T>G (p.Leu2067Trp)
c.5825T>G (p.Leu1942Trp)
c.6632T>G (p.Leu2211Trp)
c.6734T>G (p.Leu2245Trp)
c.6710T>G (p.Leu2237Trp)
c.6677T>G (p.Leu2226Trp)
c.6653T>G (p.Leu2218Trp)
c.6608T>G (p.Leu2203Trp)
3g.53811402T=CA1365489070CACNA1Dc.6542T= (p.Leu2181=)
n.1871T=
n.3481T=
n.1917T=
c.6482T= (p.Leu2161=)
c.6410T= (p.Leu2137=)
c.2603T=
c.6437T= (p.Leu2146=)
n.1909T=
c.6509T= (p.Leu2170=)
c.5561T= (p.Leu1854=)
c.6737T= (p.Leu2246=)
c.6626T= (p.Leu2209=)
c.6548T= (p.Leu2183=)
c.6200T= (p.Leu2067=)
c.5825T= (p.Leu1942=)
c.6632T= (p.Leu2211=)
c.6734T= (p.Leu2245=)
c.6710T= (p.Leu2237=)
c.6677T= (p.Leu2226=)
c.6653T= (p.Leu2218=)
c.6608T= (p.Leu2203=)
3g.53811403G>ACA433895974CACNA1Dc.6543G>A (p.Leu2181=)
n.1872G>A
n.3482G>A
n.1918G>A
c.6483G>A (p.Leu2161=)
c.6411G>A (p.Leu2137=)
c.2604G>A
c.6438G>A (p.Leu2146=)
n.1910G>A
c.6510G>A (p.Leu2170=)
c.5562G>A (p.Leu1854=)
c.6738G>A (p.Leu2246=)
c.6627G>A (p.Leu2209=)
c.6549G>A (p.Leu2183=)
c.6201G>A (p.Leu2067=)
c.5826G>A (p.Leu1942=)
c.6633G>A (p.Leu2211=)
c.6735G>A (p.Leu2245=)
c.6711G>A (p.Leu2237=)
c.6678G>A (p.Leu2226=)
c.6654G>A (p.Leu2218=)
c.6609G>A (p.Leu2203=)
 gnomAD v4
3g.53811403G>CCA353259964CACNA1Dc.6543G>C (p.Leu2181Phe)
n.1872G>C
n.3482G>C
n.1918G>C
c.6483G>C (p.Leu2161Phe)
c.6411G>C (p.Leu2137Phe)
c.2604G>C
c.6438G>C (p.Leu2146Phe)
n.1910G>C
c.6510G>C (p.Leu2170Phe)
c.5562G>C (p.Leu1854Phe)
c.6738G>C (p.Leu2246Phe)
c.6627G>C (p.Leu2209Phe)
c.6549G>C (p.Leu2183Phe)
c.6201G>C (p.Leu2067Phe)
c.5826G>C (p.Leu1942Phe)
c.6633G>C (p.Leu2211Phe)
c.6735G>C (p.Leu2245Phe)
c.6711G>C (p.Leu2237Phe)
c.6678G>C (p.Leu2226Phe)
c.6654G>C (p.Leu2218Phe)
c.6609G>C (p.Leu2203Phe)
3g.53811403G>TCA353259965CACNA1Dc.6543G>T (p.Leu2181Phe)
n.1872G>T
n.3482G>T
n.1918G>T
c.6483G>T (p.Leu2161Phe)
c.6411G>T (p.Leu2137Phe)
c.2604G>T
c.6438G>T (p.Leu2146Phe)
n.1910G>T
c.6510G>T (p.Leu2170Phe)
c.5562G>T (p.Leu1854Phe)
c.6738G>T (p.Leu2246Phe)
c.6627G>T (p.Leu2209Phe)
c.6549G>T (p.Leu2183Phe)
c.6201G>T (p.Leu2067Phe)
c.5826G>T (p.Leu1942Phe)
c.6633G>T (p.Leu2211Phe)
c.6735G>T (p.Leu2245Phe)
c.6711G>T (p.Leu2237Phe)
c.6678G>T (p.Leu2226Phe)
c.6654G>T (p.Leu2218Phe)
c.6609G>T (p.Leu2203Phe)
3g.53811404T>ACA353259968CACNA1Dc.6544T>A (p.Ter2182Lys)
n.1873T>A
n.3483T>A
n.1919T>A
c.6484T>A (p.Ter2162Lys)
c.6412T>A (p.Ter2138Lys)
c.2605T>A
c.6439T>A (p.Ter2147Lys)
n.1911T>A
c.6511T>A (p.Ter2171Lys)
c.5563T>A (p.Ter1855Lys)
c.6739T>A (p.Ter2247Lys)
c.6628T>A (p.Ter2210Lys)
c.6550T>A (p.Ter2184Lys)
c.6202T>A (p.Ter2068Lys)
c.5827T>A (p.Ter1943Lys)
c.6634T>A (p.Ter2212Lys)
c.6736T>A (p.Ter2246Lys)
c.6712T>A (p.Ter2238Lys)
c.6679T>A (p.Ter2227Lys)
c.6655T>A (p.Ter2219Lys)
c.6610T>A (p.Ter2204Lys)
3g.53811404T>CCA353259972CACNA1Dc.6544T>C (p.Ter2182Gln)
n.1873T>C
n.3483T>C
n.1919T>C
c.6484T>C (p.Ter2162Gln)
c.6412T>C (p.Ter2138Gln)
c.2605T>C
c.6439T>C (p.Ter2147Gln)
n.1911T>C
c.6511T>C (p.Ter2171Gln)
c.5563T>C (p.Ter1855Gln)
c.6739T>C (p.Ter2247Gln)
c.6628T>C (p.Ter2210Gln)
c.6550T>C (p.Ter2184Gln)
c.6202T>C (p.Ter2068Gln)
c.5827T>C (p.Ter1943Gln)
c.6634T>C (p.Ter2212Gln)
c.6736T>C (p.Ter2246Gln)
c.6712T>C (p.Ter2238Gln)
c.6679T>C (p.Ter2227Gln)
c.6655T>C (p.Ter2219Gln)
c.6610T>C (p.Ter2204Gln)
 ClinVar gnomAD v4
3g.53811404T>GCA353259970CACNA1Dc.6544T>G (p.Ter2182Glu)
n.1873T>G
n.3483T>G
n.1919T>G
c.6484T>G (p.Ter2162Glu)
c.6412T>G (p.Ter2138Glu)
c.2605T>G
c.6439T>G (p.Ter2147Glu)
n.1911T>G
c.6511T>G (p.Ter2171Glu)
c.5563T>G (p.Ter1855Glu)
c.6739T>G (p.Ter2247Glu)
c.6628T>G (p.Ter2210Glu)
c.6550T>G (p.Ter2184Glu)
c.6202T>G (p.Ter2068Glu)
c.5827T>G (p.Ter1943Glu)
c.6634T>G (p.Ter2212Glu)
c.6736T>G (p.Ter2246Glu)
c.6712T>G (p.Ter2238Glu)
c.6679T>G (p.Ter2227Glu)
c.6655T>G (p.Ter2219Glu)
c.6610T>G (p.Ter2204Glu)
3g.53811405A>CCA353259974CACNA1Dc.6545A>C (p.Ter2182Ser)
n.1874A>C
n.3484A>C
n.1920A>C
c.6485A>C (p.Ter2162Ser)
c.6413A>C (p.Ter2138Ser)
c.2606A>C
c.6440A>C (p.Ter2147Ser)
n.1912A>C
c.6512A>C (p.Ter2171Ser)
c.5564A>C (p.Ter1855Ser)
c.6740A>C (p.Ter2247Ser)
c.6629A>C (p.Ter2210Ser)
c.6551A>C (p.Ter2184Ser)
c.6203A>C (p.Ter2068Ser)
c.5828A>C (p.Ter1943Ser)
c.6635A>C (p.Ter2212Ser)
c.6737A>C (p.Ter2246Ser)
c.6713A>C (p.Ter2238Ser)
c.6680A>C (p.Ter2227Ser)
c.6656A>C (p.Ter2219Ser)
c.6611A>C (p.Ter2204Ser)
3g.53811405A>GCA353259977CACNA1Dc.6545A>G (p.Ter2182Trp)
n.1874A>G
n.3484A>G
n.1920A>G
c.6485A>G (p.Ter2162Trp)
c.6413A>G (p.Ter2138Trp)
c.2606A>G
c.6440A>G (p.Ter2147Trp)
n.1912A>G
c.6512A>G (p.Ter2171Trp)
c.5564A>G (p.Ter1855Trp)
c.6740A>G (p.Ter2247Trp)
c.6629A>G (p.Ter2210Trp)
c.6551A>G (p.Ter2184Trp)
c.6203A>G (p.Ter2068Trp)
c.5828A>G (p.Ter1943Trp)
c.6635A>G (p.Ter2212Trp)
c.6737A>G (p.Ter2246Trp)
c.6713A>G (p.Ter2238Trp)
c.6680A>G (p.Ter2227Trp)
c.6656A>G (p.Ter2219Trp)
c.6611A>G (p.Ter2204Trp)
3g.53811405A>TCA353259979CACNA1Dc.6545A>T (p.Ter2182Leu)
n.1874A>T
n.3484A>T
n.1920A>T
c.6485A>T (p.Ter2162Leu)
c.6413A>T (p.Ter2138Leu)
c.2606A>T
c.6440A>T (p.Ter2147Leu)
n.1912A>T
c.6512A>T (p.Ter2171Leu)
c.5564A>T (p.Ter1855Leu)
c.6740A>T (p.Ter2247Leu)
c.6629A>T (p.Ter2210Leu)
c.6551A>T (p.Ter2184Leu)
c.6203A>T (p.Ter2068Leu)
c.5828A>T (p.Ter1943Leu)
c.6635A>T (p.Ter2212Leu)
c.6737A>T (p.Ter2246Leu)
c.6713A>T (p.Ter2238Leu)
c.6680A>T (p.Ter2227Leu)
c.6656A>T (p.Ter2219Leu)
c.6611A>T (p.Ter2204Leu)
3g.53811406G>ACA433895976CACNA1Dc.6546G>A (p.Ter2182=)
n.1875G>A
n.3485G>A
n.1921G>A
c.6486G>A (p.Ter2162=)
c.6414G>A (p.Ter2138=)
c.2607G>A
c.6441G>A (p.Ter2147=)
n.1913G>A
c.6513G>A (p.Ter2171=)
c.5565G>A (p.Ter1855=)
c.6741G>A (p.Ter2247=)
c.6630G>A (p.Ter2210=)
c.6552G>A (p.Ter2184=)
c.6204G>A (p.Ter2068=)
c.5829G>A (p.Ter1943=)
c.6636G>A (p.Ter2212=)
c.6738G>A (p.Ter2246=)
c.6714G>A (p.Ter2238=)
c.6681G>A (p.Ter2227=)
c.6657G>A (p.Ter2219=)
c.6612G>A (p.Ter2204=)
 gnomAD v4
3g.53811406G>CCA353259983CACNA1Dc.6546G>C (p.Ter2182Tyr)
n.1875G>C
n.3485G>C
n.1921G>C
c.6486G>C (p.Ter2162Tyr)
c.6414G>C (p.Ter2138Tyr)
c.2607G>C
c.6441G>C (p.Ter2147Tyr)
n.1913G>C
c.6513G>C (p.Ter2171Tyr)
c.5565G>C (p.Ter1855Tyr)
c.6741G>C (p.Ter2247Tyr)
c.6630G>C (p.Ter2210Tyr)
c.6552G>C (p.Ter2184Tyr)
c.6204G>C (p.Ter2068Tyr)
c.5829G>C (p.Ter1943Tyr)
c.6636G>C (p.Ter2212Tyr)
c.6738G>C (p.Ter2246Tyr)
c.6714G>C (p.Ter2238Tyr)
c.6681G>C (p.Ter2227Tyr)
c.6657G>C (p.Ter2219Tyr)
c.6612G>C (p.Ter2204Tyr)
3g.53811406G>TCA353259985CACNA1Dc.6546G>T (p.Ter2182Tyr)
n.1875G>T
n.3485G>T
n.1921G>T
c.6486G>T (p.Ter2162Tyr)
c.6414G>T (p.Ter2138Tyr)
c.2607G>T
c.6441G>T (p.Ter2147Tyr)
n.1913G>T
c.6513G>T (p.Ter2171Tyr)
c.5565G>T (p.Ter1855Tyr)
c.6741G>T (p.Ter2247Tyr)
c.6630G>T (p.Ter2210Tyr)
c.6552G>T (p.Ter2184Tyr)
c.6204G>T (p.Ter2068Tyr)
c.5829G>T (p.Ter1943Tyr)
c.6636G>T (p.Ter2212Tyr)
c.6738G>T (p.Ter2246Tyr)
c.6714G>T (p.Ter2238Tyr)
c.6681G>T (p.Ter2227Tyr)
c.6657G>T (p.Ter2219Tyr)
c.6612G>T (p.Ter2204Tyr)
3g.53811406_53811407delinsGCCA1365489071CACNA1Dc.6546_*1delinsGC (n.[c.6546_*1delinsGC;Ter2182=])
n.1875_1876delinsGC
n.3485_3486delinsGC
n.1921_1922delinsGC
c.6486_*1delinsGC (n.[c.6486_*1delinsGC;Ter2162=])
c.6414_6415delinsGC (n.[c.6414_6415delinsGC;Ter2138=])
c.2607_2608delinsGC
n.1913_1914delinsGC
c.5565_5566delinsGC (n.[c.5565_5566delinsGC;Ter1855=])
c.6414_*1delinsGC (n.[c.6414_*1delinsGC;Ter2138=])
c.6441_*1delinsGC (n.[c.6441_*1delinsGC;Ter2147=])
c.6741_*1delinsGC (n.[c.6741_*1delinsGC;Ter2247=])
c.6630_*1delinsGC (n.[c.6630_*1delinsGC;Ter2210=])
c.6552_*1delinsGC (n.[c.6552_*1delinsGC;Ter2184=])
c.6204_*1delinsGC (n.[c.6204_*1delinsGC;Ter2068=])
c.5829_*1delinsGC (n.[c.5829_*1delinsGC;Ter1943=])
c.6636_*1delinsGC (n.[c.6636_*1delinsGC;Ter2212=])
c.6738_*1delinsGC (n.[c.6738_*1delinsGC;Ter2246=])
c.6714_*1delinsGC (n.[c.6714_*1delinsGC;Ter2238=])
c.6681_*1delinsGC (n.[c.6681_*1delinsGC;Ter2227=])
c.6657_*1delinsGC (n.[c.6657_*1delinsGC;Ter2219=])
c.6612_*1delinsGC (n.[c.6612_*1delinsGC;Ter2204=])
3g.53811407C>ACA543530604CACNA1Dc.*1C>A (n.*1C>A)
n.1876C>A
n.3486C>A
n.1922C>A
c.6415C>A (n.6415C>A)
c.2608C>A
n.1914C>A
c.5566C>A (n.5566C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.53811407C=CA1365489072CACNA1Dc.*1C= (n.*1C=)
n.1876C=
n.3486C=
n.1922C=
c.6415C= (n.6415C=)
c.2608C=
n.1914C=
c.5566C= (n.5566C=)
3g.53811407C>TCA2666142679CACNA1Dc.*1C>T (n.*1C>T)
n.1876C>T
n.3486C>T
n.1922C>T
c.6415C>T (n.6415C>T)
c.2608C>T
n.1914C>T
c.5566C>T (n.5566C>T)
 gnomAD v4
3g.53811411delCA543530603CACNA1Dc.*5del (n.*5del)
n.1880del
n.3490del
n.1926del
c.6419del (n.6419del)
c.2612del
n.1918del
c.5570del (n.5570del)
 dbSNP gnomAD v2 gnomAD v4
3g.53811408C>ACA1365489074CACNA1Dc.*2C>A (n.*2C>A)
n.1877C>A
n.3487C>A
n.1923C>A
c.6416C>A (n.6416C>A)
c.2609C>A
n.1915C>A
c.5567C>A (n.5567C>A)
 dbSNP
3g.53811408C=CA1365489073CACNA1Dc.*2C= (n.*2C=)
n.1877C=
n.3487C=
n.1923C=
c.6416C= (n.6416C=)
c.2609C=
n.1915C=
c.5567C= (n.5567C=)
3g.53811409C>ACA2577826409CACNA1Dc.*3C>A (n.*3C>A)
n.1878C>A
n.3488C>A
n.1924C>A
c.6417C>A (n.6417C>A)
c.2610C>A
n.1916C>A
c.5568C>A (n.5568C>A)
 gnomAD v4
3g.53811410C>ACA2666142680CACNA1Dc.*4C>A (n.*4C>A)
n.1879C>A
n.3489C>A
n.1925C>A
c.6418C>A (n.6418C>A)
c.2611C>A
n.1917C>A
c.5569C>A (n.5569C>A)
 gnomAD v4
3g.53811410C>GCA2577826410CACNA1Dc.*4C>G (n.*4C>G)
n.1879C>G
n.3489C>G
n.1925C>G
c.6418C>G (n.6418C>G)
c.2611C>G
n.1917C>G
c.5569C>G (n.5569C>G)
3g.53811411C>ACA2666142681CACNA1Dc.*5C>A (n.*5C>A)
n.1880C>A
n.3490C>A
n.1926C>A
c.6419C>A (n.6419C>A)
c.2612C>A
n.1918C>A
c.5570C>A (n.5570C>A)
 gnomAD v4
3g.53811412A=CA1365489075CACNA1Dc.*6A= (n.*6A=)
n.1881A=
n.3491A=
n.1927A=
c.6420A= (n.6420A=)
c.2613A=
n.1919A=
c.5571A= (n.5571A=)
3g.53811412A>CCA1365489076CACNA1Dc.*6A>C (n.*6A>C)
n.1881A>C
n.3491A>C
n.1927A>C
c.6420A>C (n.6420A>C)
c.2613A>C
n.1919A>C
c.5571A>C (n.5571A>C)
 dbSNP
3g.53811412A>GCA2666142682CACNA1Dc.*6A>G (n.*6A>G)
n.1881A>G
n.3491A>G
n.1927A>G
c.6420A>G (n.6420A>G)
c.2613A>G
n.1919A>G
c.5571A>G (n.5571A>G)
 gnomAD v4
3g.53811414C>ACA2666142683CACNA1Dc.*8C>A (n.*8C>A)
n.1883C>A
n.3493C>A
n.1929C>A
c.6422C>A (n.6422C>A)
c.2615C>A
n.1921C>A
c.5573C>A (n.5573C>A)
 gnomAD v4
3g.53811414C=CA1365489077CACNA1Dc.*8C= (n.*8C=)
n.1883C=
n.3493C=
n.1929C=
c.6422C= (n.6422C=)
c.2615C=
n.1921C=
c.5573C= (n.5573C=)
3g.53811414C>GCA2455455CACNA1Dc.*8C>G (n.*8C>G)
n.1883C>G
n.3493C>G
n.1929C>G
c.6422C>G (n.6422C>G)
c.2615C>G
n.1921C>G
c.5573C>G (n.5573C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811414C>TCA543530605CACNA1Dc.*8C>T (n.*8C>T)
n.1883C>T
n.3493C>T
n.1929C>T
c.6422C>T (n.6422C>T)
c.2615C>T
n.1921C>T
c.5573C>T (n.5573C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched