Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.2566473A>CCA477884514CACNA1Cc.979A>C (n.979A>C)
c.1635A>C (p.Ala545=)
c.1560A>C (p.Ala520=)
c.52A>C
c.567A>C (p.Ala189=)
c.1650A>C (p.Ala550=)
c.1551A>C (p.Ala517=)
c.1725A>C (p.Ala575=)
c.*167A>C (n.*167A>C)
c.*1180A>C (n.*1180A>C)
n.560A>C
c.1083A>C (p.Ala361=)
c.720A>C (p.Ala240=)
c.165A>C (p.Ala55=)
c.1923A>C (p.Ala641=)
c.1728A>C (p.Ala576=)
c.1803A>C (p.Ala601=)
c.1719A>C (p.Ala573=)
 gnomAD v4
12g.2566473A>GCA477884512CACNA1Cc.979A>G (n.979A>G)
c.1635A>G (p.Ala545=)
c.1560A>G (p.Ala520=)
c.52A>G
c.567A>G (p.Ala189=)
c.1650A>G (p.Ala550=)
c.1551A>G (p.Ala517=)
c.1725A>G (p.Ala575=)
c.*167A>G (n.*167A>G)
c.*1180A>G (n.*1180A>G)
n.560A>G
c.1083A>G (p.Ala361=)
c.720A>G (p.Ala240=)
c.165A>G (p.Ala55=)
c.1923A>G (p.Ala641=)
c.1728A>G (p.Ala576=)
c.1803A>G (p.Ala601=)
c.1719A>G (p.Ala573=)
 ClinVar gnomAD v4
12g.2566473A>TCA477884510CACNA1Cc.979A>T (n.979A>T)
c.1635A>T (p.Ala545=)
c.1560A>T (p.Ala520=)
c.52A>T
c.567A>T (p.Ala189=)
c.1650A>T (p.Ala550=)
c.1551A>T (p.Ala517=)
c.1725A>T (p.Ala575=)
c.*167A>T (n.*167A>T)
c.*1180A>T (n.*1180A>T)
n.560A>T
c.1083A>T (p.Ala361=)
c.720A>T (p.Ala240=)
c.165A>T (p.Ala55=)
c.1923A>T (p.Ala641=)
c.1728A>T (p.Ala576=)
c.1803A>T (p.Ala601=)
c.1719A>T (p.Ala573=)
12g.2566474G>ACA383368491CACNA1Cc.980G>A (n.980G>A)
c.1636G>A (p.Val546Ile)
c.1561G>A (p.Val521Ile)
c.53G>A
c.568G>A (p.Val190Ile)
c.1651G>A (p.Val551Ile)
c.1552G>A (p.Val518Ile)
c.1726G>A (p.Val576Ile)
c.*168G>A (n.*168G>A)
c.*1181G>A (n.*1181G>A)
n.561G>A
c.1084G>A (p.Val362Ile)
c.721G>A (p.Val241Ile)
c.166G>A (p.Val56Ile)
c.1924G>A (p.Val642Ile)
c.1729G>A (p.Val577Ile)
c.1804G>A (p.Val602Ile)
c.1720G>A (p.Val574Ile)
 ClinVar gnomAD v4
12g.2566474G>CCA383368492CACNA1Cc.980G>C (n.980G>C)
c.1636G>C (p.Val546Leu)
c.1561G>C (p.Val521Leu)
c.53G>C
c.568G>C (p.Val190Leu)
c.1651G>C (p.Val551Leu)
c.1552G>C (p.Val518Leu)
c.1726G>C (p.Val576Leu)
c.*168G>C (n.*168G>C)
c.*1181G>C (n.*1181G>C)
n.561G>C
c.1084G>C (p.Val362Leu)
c.721G>C (p.Val241Leu)
c.166G>C (p.Val56Leu)
c.1924G>C (p.Val642Leu)
c.1729G>C (p.Val577Leu)
c.1804G>C (p.Val602Leu)
c.1720G>C (p.Val574Leu)
12g.2566474G>TCA383368493CACNA1Cc.980G>T (n.980G>T)
c.1636G>T (p.Val546Phe)
c.1561G>T (p.Val521Phe)
c.53G>T
c.568G>T (p.Val190Phe)
c.1651G>T (p.Val551Phe)
c.1552G>T (p.Val518Phe)
c.1726G>T (p.Val576Phe)
c.*168G>T (n.*168G>T)
c.*1181G>T (n.*1181G>T)
n.561G>T
c.1084G>T (p.Val362Phe)
c.721G>T (p.Val241Phe)
c.166G>T (p.Val56Phe)
c.1924G>T (p.Val642Phe)
c.1729G>T (p.Val577Phe)
c.1804G>T (p.Val602Phe)
c.1720G>T (p.Val574Phe)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2566475T>ACA383368494CACNA1Cc.981T>A (n.981T>A)
c.1637T>A (p.Val546Asp)
c.1562T>A (p.Val521Asp)
c.54T>A
c.569T>A (p.Val190Asp)
c.1652T>A (p.Val551Asp)
c.1553T>A (p.Val518Asp)
c.1727T>A (p.Val576Asp)
c.*169T>A (n.*169T>A)
c.*1182T>A (n.*1182T>A)
n.562T>A
c.1085T>A (p.Val362Asp)
c.722T>A (p.Val241Asp)
c.167T>A (p.Val56Asp)
c.1925T>A (p.Val642Asp)
c.1730T>A (p.Val577Asp)
c.1805T>A (p.Val602Asp)
c.1721T>A (p.Val574Asp)
12g.2566475T>CCA383368495CACNA1Cc.981T>C (n.981T>C)
c.1637T>C (p.Val546Ala)
c.1562T>C (p.Val521Ala)
c.54T>C
c.569T>C (p.Val190Ala)
c.1652T>C (p.Val551Ala)
c.1553T>C (p.Val518Ala)
c.1727T>C (p.Val576Ala)
c.*169T>C (n.*169T>C)
c.*1182T>C (n.*1182T>C)
n.562T>C
c.1085T>C (p.Val362Ala)
c.722T>C (p.Val241Ala)
c.167T>C (p.Val56Ala)
c.1925T>C (p.Val642Ala)
c.1730T>C (p.Val577Ala)
c.1805T>C (p.Val602Ala)
c.1721T>C (p.Val574Ala)
 dbSNP gnomAD v2
12g.2566475T>GCA383368496CACNA1Cc.981T>G (n.981T>G)
c.1637T>G (p.Val546Gly)
c.1562T>G (p.Val521Gly)
c.54T>G
c.569T>G (p.Val190Gly)
c.1652T>G (p.Val551Gly)
c.1553T>G (p.Val518Gly)
c.1727T>G (p.Val576Gly)
c.*169T>G (n.*169T>G)
c.*1182T>G (n.*1182T>G)
n.562T>G
c.1085T>G (p.Val362Gly)
c.722T>G (p.Val241Gly)
c.167T>G (p.Val56Gly)
c.1925T>G (p.Val642Gly)
c.1730T>G (p.Val577Gly)
c.1805T>G (p.Val602Gly)
c.1721T>G (p.Val574Gly)
12g.2566476C>ACA477884522CACNA1Cc.982C>A (n.982C>A)
c.1638C>A (p.Val546=)
c.1563C>A (p.Val521=)
c.55C>A
c.570C>A (p.Val190=)
c.1653C>A (p.Val551=)
c.1554C>A (p.Val518=)
c.1728C>A (p.Val576=)
c.*170C>A (n.*170C>A)
c.*1183C>A (n.*1183C>A)
n.563C>A
c.1086C>A (p.Val362=)
c.723C>A (p.Val241=)
c.168C>A (p.Val56=)
c.1926C>A (p.Val642=)
c.1731C>A (p.Val577=)
c.1806C>A (p.Val602=)
c.1722C>A (p.Val574=)
 gnomAD v4
12g.2566476C>GCA477884520CACNA1Cc.982C>G (n.982C>G)
c.1638C>G (p.Val546=)
c.1563C>G (p.Val521=)
c.55C>G
c.570C>G (p.Val190=)
c.1653C>G (p.Val551=)
c.1554C>G (p.Val518=)
c.1728C>G (p.Val576=)
c.*170C>G (n.*170C>G)
c.*1183C>G (n.*1183C>G)
n.563C>G
c.1086C>G (p.Val362=)
c.723C>G (p.Val241=)
c.168C>G (p.Val56=)
c.1926C>G (p.Val642=)
c.1731C>G (p.Val577=)
c.1806C>G (p.Val602=)
c.1722C>G (p.Val574=)
 dbSNP gnomAD v4
12g.2566476C>TCA477884521CACNA1Cc.982C>T (n.982C>T)
c.1638C>T (p.Val546=)
c.1563C>T (p.Val521=)
c.55C>T
c.570C>T (p.Val190=)
c.1653C>T (p.Val551=)
c.1554C>T (p.Val518=)
c.1728C>T (p.Val576=)
c.*170C>T (n.*170C>T)
c.*1183C>T (n.*1183C>T)
n.563C>T
c.1086C>T (p.Val362=)
c.723C>T (p.Val241=)
c.168C>T (p.Val56=)
c.1926C>T (p.Val642=)
c.1731C>T (p.Val577=)
c.1806C>T (p.Val602=)
c.1722C>T (p.Val574=)
 dbSNP gnomAD v2 gnomAD v4
12g.2566477A>CCA383368497CACNA1Cc.983A>C (n.983A>C)
c.1639A>C (p.Lys547Gln)
c.1564A>C (p.Lys522Gln)
c.56A>C
c.571A>C (p.Lys191Gln)
c.1654A>C (p.Lys552Gln)
c.1555A>C (p.Lys519Gln)
c.1729A>C (p.Lys577Gln)
c.*171A>C (n.*171A>C)
c.*1184A>C (n.*1184A>C)
n.564A>C
c.1087A>C (p.Lys363Gln)
c.724A>C (p.Lys242Gln)
c.169A>C (p.Lys57Gln)
c.1927A>C (p.Lys643Gln)
c.1732A>C (p.Lys578Gln)
c.1807A>C (p.Lys603Gln)
c.1723A>C (p.Lys575Gln)
12g.2566477A>GCA383368498CACNA1Cc.983A>G (n.983A>G)
c.1639A>G (p.Lys547Glu)
c.1564A>G (p.Lys522Glu)
c.56A>G
c.571A>G (p.Lys191Glu)
c.1654A>G (p.Lys552Glu)
c.1555A>G (p.Lys519Glu)
c.1729A>G (p.Lys577Glu)
c.*171A>G (n.*171A>G)
c.*1184A>G (n.*1184A>G)
n.564A>G
c.1087A>G (p.Lys363Glu)
c.724A>G (p.Lys242Glu)
c.169A>G (p.Lys57Glu)
c.1927A>G (p.Lys643Glu)
c.1732A>G (p.Lys578Glu)
c.1807A>G (p.Lys603Glu)
c.1723A>G (p.Lys575Glu)
12g.2566477A>TCA383368499CACNA1Cc.983A>T (n.983A>T)
c.1639A>T (p.Lys547Ter)
c.1564A>T (p.Lys522Ter)
c.56A>T
c.571A>T (p.Lys191Ter)
c.1654A>T (p.Lys552Ter)
c.1555A>T (p.Lys519Ter)
c.1729A>T (p.Lys577Ter)
c.*171A>T (n.*171A>T)
c.*1184A>T (n.*1184A>T)
n.564A>T
c.1087A>T (p.Lys363Ter)
c.724A>T (p.Lys242Ter)
c.169A>T (p.Lys57Ter)
c.1927A>T (p.Lys643Ter)
c.1732A>T (p.Lys578Ter)
c.1807A>T (p.Lys603Ter)
c.1723A>T (p.Lys575Ter)
 dbSNP gnomAD v4
12g.2566478A>CCA383368500CACNA1Cc.984A>C (n.984A>C)
c.1640A>C (p.Lys547Thr)
c.1565A>C (p.Lys522Thr)
c.57A>C
c.572A>C (p.Lys191Thr)
c.1655A>C (p.Lys552Thr)
c.1556A>C (p.Lys519Thr)
c.1730A>C (p.Lys577Thr)
c.*172A>C (n.*172A>C)
c.*1185A>C (n.*1185A>C)
n.565A>C
c.1088A>C (p.Lys363Thr)
c.725A>C (p.Lys242Thr)
c.170A>C (p.Lys57Thr)
c.1928A>C (p.Lys643Thr)
c.1733A>C (p.Lys578Thr)
c.1808A>C (p.Lys603Thr)
c.1724A>C (p.Lys575Thr)
12g.2566478A>GCA383368501CACNA1Cc.984A>G (n.984A>G)
c.1640A>G (p.Lys547Arg)
c.1565A>G (p.Lys522Arg)
c.57A>G
c.572A>G (p.Lys191Arg)
c.1655A>G (p.Lys552Arg)
c.1556A>G (p.Lys519Arg)
c.1730A>G (p.Lys577Arg)
c.*172A>G (n.*172A>G)
c.*1185A>G (n.*1185A>G)
n.565A>G
c.1088A>G (p.Lys363Arg)
c.725A>G (p.Lys242Arg)
c.170A>G (p.Lys57Arg)
c.1928A>G (p.Lys643Arg)
c.1733A>G (p.Lys578Arg)
c.1808A>G (p.Lys603Arg)
c.1724A>G (p.Lys575Arg)
 dbSNP gnomAD v2
12g.2566478A>TCA383368502CACNA1Cc.984A>T (n.984A>T)
c.1640A>T (p.Lys547Met)
c.1565A>T (p.Lys522Met)
c.57A>T
c.572A>T (p.Lys191Met)
c.1655A>T (p.Lys552Met)
c.1556A>T (p.Lys519Met)
c.1730A>T (p.Lys577Met)
c.*172A>T (n.*172A>T)
c.*1185A>T (n.*1185A>T)
n.565A>T
c.1088A>T (p.Lys363Met)
c.725A>T (p.Lys242Met)
c.170A>T (p.Lys57Met)
c.1928A>T (p.Lys643Met)
c.1733A>T (p.Lys578Met)
c.1808A>T (p.Lys603Met)
c.1724A>T (p.Lys575Met)
12g.2566479G>ACA477884527CACNA1Cc.985G>A (n.985G>A)
c.1641G>A (p.Lys547=)
c.1566G>A (p.Lys522=)
c.58G>A
c.573G>A (p.Lys191=)
c.1656G>A (p.Lys552=)
c.1557G>A (p.Lys519=)
c.1731G>A (p.Lys577=)
c.*173G>A (n.*173G>A)
c.*1186G>A (n.*1186G>A)
n.566G>A
c.1089G>A (p.Lys363=)
c.726G>A (p.Lys242=)
c.171G>A (p.Lys57=)
c.1929G>A (p.Lys643=)
c.1734G>A (p.Lys578=)
c.1809G>A (p.Lys603=)
c.1725G>A (p.Lys575=)
12g.2566479G>CCA383368504CACNA1Cc.985G>C (n.985G>C)
c.1641G>C (p.Lys547Asn)
c.1566G>C (p.Lys522Asn)
c.58G>C
c.573G>C (p.Lys191Asn)
c.1656G>C (p.Lys552Asn)
c.1557G>C (p.Lys519Asn)
c.1731G>C (p.Lys577Asn)
c.*173G>C (n.*173G>C)
c.*1186G>C (n.*1186G>C)
n.566G>C
c.1089G>C (p.Lys363Asn)
c.726G>C (p.Lys242Asn)
c.171G>C (p.Lys57Asn)
c.1929G>C (p.Lys643Asn)
c.1734G>C (p.Lys578Asn)
c.1809G>C (p.Lys603Asn)
c.1725G>C (p.Lys575Asn)
12g.2566479G>TCA383368503CACNA1Cc.985G>T (n.985G>T)
c.1641G>T (p.Lys547Asn)
c.1566G>T (p.Lys522Asn)
c.58G>T
c.573G>T (p.Lys191Asn)
c.1656G>T (p.Lys552Asn)
c.1557G>T (p.Lys519Asn)
c.1731G>T (p.Lys577Asn)
c.*173G>T (n.*173G>T)
c.*1186G>T (n.*1186G>T)
n.566G>T
c.1089G>T (p.Lys363Asn)
c.726G>T (p.Lys242Asn)
c.171G>T (p.Lys57Asn)
c.1929G>T (p.Lys643Asn)
c.1734G>T (p.Lys578Asn)
c.1809G>T (p.Lys603Asn)
c.1725G>T (p.Lys575Asn)
12g.2566480T>ACA383368505CACNA1Cc.986T>A (n.986T>A)
c.1642T>A (p.Ser548Thr)
c.1567T>A (p.Ser523Thr)
c.59T>A
c.574T>A (p.Ser192Thr)
c.1657T>A (p.Ser553Thr)
c.1558T>A (p.Ser520Thr)
c.1732T>A (p.Ser578Thr)
c.*174T>A (n.*174T>A)
c.*1187T>A (n.*1187T>A)
n.567T>A
c.1090T>A (p.Ser364Thr)
c.727T>A (p.Ser243Thr)
c.172T>A (p.Ser58Thr)
c.1930T>A (p.Ser644Thr)
c.1735T>A (p.Ser579Thr)
c.1810T>A (p.Ser604Thr)
c.1726T>A (p.Ser576Thr)
 gnomAD v4
12g.2566480T>CCA383368506CACNA1Cc.986T>C (n.986T>C)
c.1642T>C (p.Ser548Pro)
c.1567T>C (p.Ser523Pro)
c.59T>C
c.574T>C (p.Ser192Pro)
c.1657T>C (p.Ser553Pro)
c.1558T>C (p.Ser520Pro)
c.1732T>C (p.Ser578Pro)
c.*174T>C (n.*174T>C)
c.*1187T>C (n.*1187T>C)
n.567T>C
c.1090T>C (p.Ser364Pro)
c.727T>C (p.Ser243Pro)
c.172T>C (p.Ser58Pro)
c.1930T>C (p.Ser644Pro)
c.1735T>C (p.Ser579Pro)
c.1810T>C (p.Ser604Pro)
c.1726T>C (p.Ser576Pro)
12g.2566480T>GCA383368507CACNA1Cc.986T>G (n.986T>G)
c.1642T>G (p.Ser548Ala)
c.1567T>G (p.Ser523Ala)
c.59T>G
c.574T>G (p.Ser192Ala)
c.1657T>G (p.Ser553Ala)
c.1558T>G (p.Ser520Ala)
c.1732T>G (p.Ser578Ala)
c.*174T>G (n.*174T>G)
c.*1187T>G (n.*1187T>G)
n.567T>G
c.1090T>G (p.Ser364Ala)
c.727T>G (p.Ser243Ala)
c.172T>G (p.Ser58Ala)
c.1930T>G (p.Ser644Ala)
c.1735T>G (p.Ser579Ala)
c.1810T>G (p.Ser604Ala)
c.1726T>G (p.Ser576Ala)
12g.2566481C>ACA383368508CACNA1Cc.987C>A (n.987C>A)
c.1643C>A (p.Ser548Tyr)
c.1568C>A (p.Ser523Tyr)
c.60C>A
c.575C>A (p.Ser192Tyr)
c.1658C>A (p.Ser553Tyr)
c.1559C>A (p.Ser520Tyr)
c.1733C>A (p.Ser578Tyr)
c.*175C>A (n.*175C>A)
c.*1188C>A (n.*1188C>A)
n.568C>A
c.1091C>A (p.Ser364Tyr)
c.728C>A (p.Ser243Tyr)
c.173C>A (p.Ser58Tyr)
c.1931C>A (p.Ser644Tyr)
c.1736C>A (p.Ser579Tyr)
c.1811C>A (p.Ser604Tyr)
c.1727C>A (p.Ser576Tyr)
12g.2566481C>GCA383368509CACNA1Cc.987C>G (n.987C>G)
c.1643C>G (p.Ser548Cys)
c.1568C>G (p.Ser523Cys)
c.60C>G
c.575C>G (p.Ser192Cys)
c.1658C>G (p.Ser553Cys)
c.1559C>G (p.Ser520Cys)
c.1733C>G (p.Ser578Cys)
c.*175C>G (n.*175C>G)
c.*1188C>G (n.*1188C>G)
n.568C>G
c.1091C>G (p.Ser364Cys)
c.728C>G (p.Ser243Cys)
c.173C>G (p.Ser58Cys)
c.1931C>G (p.Ser644Cys)
c.1736C>G (p.Ser579Cys)
c.1811C>G (p.Ser604Cys)
c.1727C>G (p.Ser576Cys)
 gnomAD v4
12g.2566481C>TCA383368510CACNA1Cc.987C>T (n.987C>T)
c.1643C>T (p.Ser548Phe)
c.1568C>T (p.Ser523Phe)
c.60C>T
c.575C>T (p.Ser192Phe)
c.1658C>T (p.Ser553Phe)
c.1559C>T (p.Ser520Phe)
c.1733C>T (p.Ser578Phe)
c.*175C>T (n.*175C>T)
c.*1188C>T (n.*1188C>T)
n.568C>T
c.1091C>T (p.Ser364Phe)
c.728C>T (p.Ser243Phe)
c.173C>T (p.Ser58Phe)
c.1931C>T (p.Ser644Phe)
c.1736C>T (p.Ser579Phe)
c.1811C>T (p.Ser604Phe)
c.1727C>T (p.Ser576Phe)
12g.2566482T>ACA477884532CACNA1Cc.988T>A (n.988T>A)
c.1644T>A (p.Ser548=)
c.1569T>A (p.Ser523=)
c.61T>A
c.576T>A (p.Ser192=)
c.1659T>A (p.Ser553=)
c.1560T>A (p.Ser520=)
c.1734T>A (p.Ser578=)
c.*176T>A (n.*176T>A)
c.*1189T>A (n.*1189T>A)
n.569T>A
c.1092T>A (p.Ser364=)
c.729T>A (p.Ser243=)
c.174T>A (p.Ser58=)
c.1932T>A (p.Ser644=)
c.1737T>A (p.Ser579=)
c.1812T>A (p.Ser604=)
c.1728T>A (p.Ser576=)
12g.2566482T>CCA477884534CACNA1Cc.988T>C (n.988T>C)
c.1644T>C (p.Ser548=)
c.1569T>C (p.Ser523=)
c.61T>C
c.576T>C (p.Ser192=)
c.1659T>C (p.Ser553=)
c.1560T>C (p.Ser520=)
c.1734T>C (p.Ser578=)
c.*176T>C (n.*176T>C)
c.*1189T>C (n.*1189T>C)
n.569T>C
c.1092T>C (p.Ser364=)
c.729T>C (p.Ser243=)
c.174T>C (p.Ser58=)
c.1932T>C (p.Ser644=)
c.1737T>C (p.Ser579=)
c.1812T>C (p.Ser604=)
c.1728T>C (p.Ser576=)
 ClinVar dbSNP
12g.2566482T>GCA477884531CACNA1Cc.988T>G (n.988T>G)
c.1644T>G (p.Ser548=)
c.1569T>G (p.Ser523=)
c.61T>G
c.576T>G (p.Ser192=)
c.1659T>G (p.Ser553=)
c.1560T>G (p.Ser520=)
c.1734T>G (p.Ser578=)
c.*176T>G (n.*176T>G)
c.*1189T>G (n.*1189T>G)
n.569T>G
c.1092T>G (p.Ser364=)
c.729T>G (p.Ser243=)
c.174T>G (p.Ser58=)
c.1932T>G (p.Ser644=)
c.1737T>G (p.Ser579=)
c.1812T>G (p.Ser604=)
c.1728T>G (p.Ser576=)
12g.2566483A>CCA383368513CACNA1Cc.989A>C (n.989A>C)
c.1645A>C (p.Asn549His)
c.1570A>C (p.Asn524His)
c.62A>C
c.577A>C (p.Asn193His)
c.1660A>C (p.Asn554His)
c.1561A>C (p.Asn521His)
c.1735A>C (p.Asn579His)
c.*177A>C (n.*177A>C)
c.*1190A>C (n.*1190A>C)
n.570A>C
c.1093A>C (p.Asn365His)
c.730A>C (p.Asn244His)
c.175A>C (p.Asn59His)
c.1933A>C (p.Asn645His)
c.1738A>C (p.Asn580His)
c.1813A>C (p.Asn605His)
c.1729A>C (p.Asn577His)
12g.2566483A>GCA383368511CACNA1Cc.989A>G (n.989A>G)
c.1645A>G (p.Asn549Asp)
c.1570A>G (p.Asn524Asp)
c.62A>G
c.577A>G (p.Asn193Asp)
c.1660A>G (p.Asn554Asp)
c.1561A>G (p.Asn521Asp)
c.1735A>G (p.Asn579Asp)
c.*177A>G (n.*177A>G)
c.*1190A>G (n.*1190A>G)
n.570A>G
c.1093A>G (p.Asn365Asp)
c.730A>G (p.Asn244Asp)
c.175A>G (p.Asn59Asp)
c.1933A>G (p.Asn645Asp)
c.1738A>G (p.Asn580Asp)
c.1813A>G (p.Asn605Asp)
c.1729A>G (p.Asn577Asp)
 ClinVar gnomAD v4
12g.2566483A>TCA383368512CACNA1Cc.989A>T (n.989A>T)
c.1645A>T (p.Asn549Tyr)
c.1570A>T (p.Asn524Tyr)
c.62A>T
c.577A>T (p.Asn193Tyr)
c.1660A>T (p.Asn554Tyr)
c.1561A>T (p.Asn521Tyr)
c.1735A>T (p.Asn579Tyr)
c.*177A>T (n.*177A>T)
c.*1190A>T (n.*1190A>T)
n.570A>T
c.1093A>T (p.Asn365Tyr)
c.730A>T (p.Asn244Tyr)
c.175A>T (p.Asn59Tyr)
c.1933A>T (p.Asn645Tyr)
c.1738A>T (p.Asn580Tyr)
c.1813A>T (p.Asn605Tyr)
c.1729A>T (p.Asn577Tyr)
12g.2566484A>CCA383368514CACNA1Cc.990A>C (n.990A>C)
c.1646A>C (p.Asn549Thr)
c.1571A>C (p.Asn524Thr)
c.63A>C
c.578A>C (p.Asn193Thr)
c.1661A>C (p.Asn554Thr)
c.1562A>C (p.Asn521Thr)
c.1736A>C (p.Asn579Thr)
c.*178A>C (n.*178A>C)
c.*1191A>C (n.*1191A>C)
n.571A>C
c.1094A>C (p.Asn365Thr)
c.731A>C (p.Asn244Thr)
c.176A>C (p.Asn59Thr)
c.1934A>C (p.Asn645Thr)
c.1739A>C (p.Asn580Thr)
c.1814A>C (p.Asn605Thr)
c.1730A>C (p.Asn577Thr)
 dbSNP gnomAD v4
12g.2566484A>GCA383368515CACNA1Cc.990A>G (n.990A>G)
c.1646A>G (p.Asn549Ser)
c.1571A>G (p.Asn524Ser)
c.63A>G
c.578A>G (p.Asn193Ser)
c.1661A>G (p.Asn554Ser)
c.1562A>G (p.Asn521Ser)
c.1736A>G (p.Asn579Ser)
c.*178A>G (n.*178A>G)
c.*1191A>G (n.*1191A>G)
n.571A>G
c.1094A>G (p.Asn365Ser)
c.731A>G (p.Asn244Ser)
c.176A>G (p.Asn59Ser)
c.1934A>G (p.Asn645Ser)
c.1739A>G (p.Asn580Ser)
c.1814A>G (p.Asn605Ser)
c.1730A>G (p.Asn577Ser)
 ClinVar gnomAD v4
12g.2566484A>TCA383368516CACNA1Cc.990A>T (n.990A>T)
c.1646A>T (p.Asn549Ile)
c.1571A>T (p.Asn524Ile)
c.63A>T
c.578A>T (p.Asn193Ile)
c.1661A>T (p.Asn554Ile)
c.1562A>T (p.Asn521Ile)
c.1736A>T (p.Asn579Ile)
c.*178A>T (n.*178A>T)
c.*1191A>T (n.*1191A>T)
n.571A>T
c.1094A>T (p.Asn365Ile)
c.731A>T (p.Asn244Ile)
c.176A>T (p.Asn59Ile)
c.1934A>T (p.Asn645Ile)
c.1739A>T (p.Asn580Ile)
c.1814A>T (p.Asn605Ile)
c.1730A>T (p.Asn577Ile)
12g.2566485T>ACA383368517CACNA1Cc.991T>A (n.991T>A)
c.1647T>A (p.Asn549Lys)
c.1572T>A (p.Asn524Lys)
c.64T>A
c.579T>A (p.Asn193Lys)
c.1662T>A (p.Asn554Lys)
c.1563T>A (p.Asn521Lys)
c.1737T>A (p.Asn579Lys)
c.*179T>A (n.*179T>A)
c.*1192T>A (n.*1192T>A)
n.572T>A
c.1095T>A (p.Asn365Lys)
c.732T>A (p.Asn244Lys)
c.177T>A (p.Asn59Lys)
c.1935T>A (p.Asn645Lys)
c.1740T>A (p.Asn580Lys)
c.1815T>A (p.Asn605Lys)
c.1731T>A (p.Asn577Lys)
12g.2566485T>CCA477884539CACNA1Cc.991T>C (n.991T>C)
c.1647T>C (p.Asn549=)
c.1572T>C (p.Asn524=)
c.64T>C
c.579T>C (p.Asn193=)
c.1662T>C (p.Asn554=)
c.1563T>C (p.Asn521=)
c.1737T>C (p.Asn579=)
c.*179T>C (n.*179T>C)
c.*1192T>C (n.*1192T>C)
n.572T>C
c.1095T>C (p.Asn365=)
c.732T>C (p.Asn244=)
c.177T>C (p.Asn59=)
c.1935T>C (p.Asn645=)
c.1740T>C (p.Asn580=)
c.1815T>C (p.Asn605=)
c.1731T>C (p.Asn577=)
12g.2566485T>GCA383368518CACNA1Cc.991T>G (n.991T>G)
c.1647T>G (p.Asn549Lys)
c.1572T>G (p.Asn524Lys)
c.64T>G
c.579T>G (p.Asn193Lys)
c.1662T>G (p.Asn554Lys)
c.1563T>G (p.Asn521Lys)
c.1737T>G (p.Asn579Lys)
c.*179T>G (n.*179T>G)
c.*1192T>G (n.*1192T>G)
n.572T>G
c.1095T>G (p.Asn365Lys)
c.732T>G (p.Asn244Lys)
c.177T>G (p.Asn59Lys)
c.1935T>G (p.Asn645Lys)
c.1740T>G (p.Asn580Lys)
c.1815T>G (p.Asn605Lys)
c.1731T>G (p.Asn577Lys)
12g.2566486G>ACA383368519CACNA1Cc.992G>A (n.992G>A)
c.1648G>A (p.Val550Ile)
c.1573G>A (p.Val525Ile)
c.65G>A
c.580G>A (p.Val194Ile)
c.1663G>A (p.Val555Ile)
c.1564G>A (p.Val522Ile)
c.1738G>A (p.Val580Ile)
c.*180G>A (n.*180G>A)
c.*1193G>A (n.*1193G>A)
n.573G>A
c.1096G>A (p.Val366Ile)
c.733G>A (p.Val245Ile)
c.178G>A (p.Val60Ile)
c.1936G>A (p.Val646Ile)
c.1741G>A (p.Val581Ile)
c.1816G>A (p.Val606Ile)
c.1732G>A (p.Val578Ile)
12g.2566486G>CCA383368521CACNA1Cc.992G>C (n.992G>C)
c.1648G>C (p.Val550Leu)
c.1573G>C (p.Val525Leu)
c.65G>C
c.580G>C (p.Val194Leu)
c.1663G>C (p.Val555Leu)
c.1564G>C (p.Val522Leu)
c.1738G>C (p.Val580Leu)
c.*180G>C (n.*180G>C)
c.*1193G>C (n.*1193G>C)
n.573G>C
c.1096G>C (p.Val366Leu)
c.733G>C (p.Val245Leu)
c.178G>C (p.Val60Leu)
c.1936G>C (p.Val646Leu)
c.1741G>C (p.Val581Leu)
c.1816G>C (p.Val606Leu)
c.1732G>C (p.Val578Leu)
12g.2566486G>TCA383368520CACNA1Cc.992G>T (n.992G>T)
c.1648G>T (p.Val550Phe)
c.1573G>T (p.Val525Phe)
c.65G>T
c.580G>T (p.Val194Phe)
c.1663G>T (p.Val555Phe)
c.1564G>T (p.Val522Phe)
c.1738G>T (p.Val580Phe)
c.*180G>T (n.*180G>T)
c.*1193G>T (n.*1193G>T)
n.573G>T
c.1096G>T (p.Val366Phe)
c.733G>T (p.Val245Phe)
c.178G>T (p.Val60Phe)
c.1936G>T (p.Val646Phe)
c.1741G>T (p.Val581Phe)
c.1816G>T (p.Val606Phe)
c.1732G>T (p.Val578Phe)
12g.2566487T>ACA383368522CACNA1Cc.993T>A (n.993T>A)
c.1649T>A (p.Val550Asp)
c.1574T>A (p.Val525Asp)
c.66T>A
c.581T>A (p.Val194Asp)
c.1664T>A (p.Val555Asp)
c.1565T>A (p.Val522Asp)
c.1739T>A (p.Val580Asp)
c.*181T>A (n.*181T>A)
c.*1194T>A (n.*1194T>A)
n.574T>A
c.1097T>A (p.Val366Asp)
c.734T>A (p.Val245Asp)
c.179T>A (p.Val60Asp)
c.1937T>A (p.Val646Asp)
c.1742T>A (p.Val581Asp)
c.1817T>A (p.Val606Asp)
c.1733T>A (p.Val578Asp)
12g.2566487T>CCA383368523CACNA1Cc.993T>C (n.993T>C)
c.1649T>C (p.Val550Ala)
c.1574T>C (p.Val525Ala)
c.66T>C
c.581T>C (p.Val194Ala)
c.1664T>C (p.Val555Ala)
c.1565T>C (p.Val522Ala)
c.1739T>C (p.Val580Ala)
c.*181T>C (n.*181T>C)
c.*1194T>C (n.*1194T>C)
n.574T>C
c.1097T>C (p.Val366Ala)
c.734T>C (p.Val245Ala)
c.179T>C (p.Val60Ala)
c.1937T>C (p.Val646Ala)
c.1742T>C (p.Val581Ala)
c.1817T>C (p.Val606Ala)
c.1733T>C (p.Val578Ala)
12g.2566487T>GCA383368524CACNA1Cc.993T>G (n.993T>G)
c.1649T>G (p.Val550Gly)
c.1574T>G (p.Val525Gly)
c.66T>G
c.581T>G (p.Val194Gly)
c.1664T>G (p.Val555Gly)
c.1565T>G (p.Val522Gly)
c.1739T>G (p.Val580Gly)
c.*181T>G (n.*181T>G)
c.*1194T>G (n.*1194T>G)
n.574T>G
c.1097T>G (p.Val366Gly)
c.734T>G (p.Val245Gly)
c.179T>G (p.Val60Gly)
c.1937T>G (p.Val646Gly)
c.1742T>G (p.Val581Gly)
c.1817T>G (p.Val606Gly)
c.1733T>G (p.Val578Gly)
12g.2566488C>ACA477884542CACNA1Cc.994C>A (n.994C>A)
c.1650C>A (p.Val550=)
c.1575C>A (p.Val525=)
c.67C>A
c.582C>A (p.Val194=)
c.1665C>A (p.Val555=)
c.1566C>A (p.Val522=)
c.1740C>A (p.Val580=)
c.*182C>A (n.*182C>A)
c.*1195C>A (n.*1195C>A)
n.575C>A
c.1098C>A (p.Val366=)
c.735C>A (p.Val245=)
c.180C>A (p.Val60=)
c.1938C>A (p.Val646=)
c.1743C>A (p.Val581=)
c.1818C>A (p.Val606=)
c.1734C>A (p.Val578=)
12g.2566488C>GCA477884543CACNA1Cc.994C>G (n.994C>G)
c.1650C>G (p.Val550=)
c.1575C>G (p.Val525=)
c.67C>G
c.582C>G (p.Val194=)
c.1665C>G (p.Val555=)
c.1566C>G (p.Val522=)
c.1740C>G (p.Val580=)
c.*182C>G (n.*182C>G)
c.*1195C>G (n.*1195C>G)
n.575C>G
c.1098C>G (p.Val366=)
c.735C>G (p.Val245=)
c.180C>G (p.Val60=)
c.1938C>G (p.Val646=)
c.1743C>G (p.Val581=)
c.1818C>G (p.Val606=)
c.1734C>G (p.Val578=)
12g.2566488C>TCA477884541CACNA1Cc.994C>T (n.994C>T)
c.1650C>T (p.Val550=)
c.1575C>T (p.Val525=)
c.67C>T
c.582C>T (p.Val194=)
c.1665C>T (p.Val555=)
c.1566C>T (p.Val522=)
c.1740C>T (p.Val580=)
c.*182C>T (n.*182C>T)
c.*1195C>T (n.*1195C>T)
n.575C>T
c.1098C>T (p.Val366=)
c.735C>T (p.Val245=)
c.180C>T (p.Val60=)
c.1938C>T (p.Val646=)
c.1743C>T (p.Val581=)
c.1818C>T (p.Val606=)
c.1734C>T (p.Val578=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.2566489T>ACA383368525CACNA1Cc.995T>A (n.995T>A)
c.1651T>A (p.Phe551Ile)
c.1576T>A (p.Phe526Ile)
c.68T>A
c.583T>A (p.Phe195Ile)
c.1666T>A (p.Phe556Ile)
c.1567T>A (p.Phe523Ile)
c.1741T>A (p.Phe581Ile)
c.*183T>A (n.*183T>A)
c.*1196T>A (n.*1196T>A)
n.576T>A
c.1099T>A (p.Phe367Ile)
c.736T>A (p.Phe246Ile)
c.181T>A (p.Phe61Ile)
c.1939T>A (p.Phe647Ile)
c.1744T>A (p.Phe582Ile)
c.1819T>A (p.Phe607Ile)
c.1735T>A (p.Phe579Ile)
 gnomAD v4
12g.2566489T>CCA383368526CACNA1Cc.995T>C (n.995T>C)
c.1651T>C (p.Phe551Leu)
c.1576T>C (p.Phe526Leu)
c.68T>C
c.583T>C (p.Phe195Leu)
c.1666T>C (p.Phe556Leu)
c.1567T>C (p.Phe523Leu)
c.1741T>C (p.Phe581Leu)
c.*183T>C (n.*183T>C)
c.*1196T>C (n.*1196T>C)
n.576T>C
c.1099T>C (p.Phe367Leu)
c.736T>C (p.Phe246Leu)
c.181T>C (p.Phe61Leu)
c.1939T>C (p.Phe647Leu)
c.1744T>C (p.Phe582Leu)
c.1819T>C (p.Phe607Leu)
c.1735T>C (p.Phe579Leu)
 gnomAD v4

Number of alleles fetched