Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53811257C>ACA353259276CACNA1Dc.6397C>A (p.Pro2133Thr)
n.1726C>A
n.3336C>A
n.1772C>A
c.6337C>A (p.Pro2113Thr)
c.6265C>A (p.Pro2089Thr)
c.2458C>A
c.6292C>A (p.Pro2098Thr)
n.1709C>A
n.1764C>A
c.6364C>A (p.Pro2122Thr)
c.5416C>A (p.Pro1806Thr)
c.6592C>A (p.Pro2198Thr)
c.6481C>A (p.Pro2161Thr)
c.6403C>A (p.Pro2135Thr)
c.6055C>A (p.Pro2019Thr)
c.5680C>A (p.Pro1894Thr)
c.6487C>A (p.Pro2163Thr)
c.6589C>A (p.Pro2197Thr)
c.6565C>A (p.Pro2189Thr)
c.6532C>A (p.Pro2178Thr)
c.6508C>A (p.Pro2170Thr)
c.6463C>A (p.Pro2155Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.53811257C=CA1365489010CACNA1Dc.6397C= (p.Pro2133=)
n.1726C=
n.3336C=
n.1772C=
c.6337C= (p.Pro2113=)
c.6265C= (p.Pro2089=)
c.2458C=
c.6292C= (p.Pro2098=)
n.1709C=
n.1764C=
c.6364C= (p.Pro2122=)
c.5416C= (p.Pro1806=)
c.6592C= (p.Pro2198=)
c.6481C= (p.Pro2161=)
c.6403C= (p.Pro2135=)
c.6055C= (p.Pro2019=)
c.5680C= (p.Pro1894=)
c.6487C= (p.Pro2163=)
c.6589C= (p.Pro2197=)
c.6565C= (p.Pro2189=)
c.6532C= (p.Pro2178=)
c.6508C= (p.Pro2170=)
c.6463C= (p.Pro2155=)
3g.53811257C>GCA353259274CACNA1Dc.6397C>G (p.Pro2133Ala)
n.1726C>G
n.3336C>G
n.1772C>G
c.6337C>G (p.Pro2113Ala)
c.6265C>G (p.Pro2089Ala)
c.2458C>G
c.6292C>G (p.Pro2098Ala)
n.1709C>G
n.1764C>G
c.6364C>G (p.Pro2122Ala)
c.5416C>G (p.Pro1806Ala)
c.6592C>G (p.Pro2198Ala)
c.6481C>G (p.Pro2161Ala)
c.6403C>G (p.Pro2135Ala)
c.6055C>G (p.Pro2019Ala)
c.5680C>G (p.Pro1894Ala)
c.6487C>G (p.Pro2163Ala)
c.6589C>G (p.Pro2197Ala)
c.6565C>G (p.Pro2189Ala)
c.6532C>G (p.Pro2178Ala)
c.6508C>G (p.Pro2170Ala)
c.6463C>G (p.Pro2155Ala)
3g.53811257C>TCA353259275CACNA1Dc.6397C>T (p.Pro2133Ser)
n.1726C>T
n.3336C>T
n.1772C>T
c.6337C>T (p.Pro2113Ser)
c.6265C>T (p.Pro2089Ser)
c.2458C>T
c.6292C>T (p.Pro2098Ser)
n.1709C>T
n.1764C>T
c.6364C>T (p.Pro2122Ser)
c.5416C>T (p.Pro1806Ser)
c.6592C>T (p.Pro2198Ser)
c.6481C>T (p.Pro2161Ser)
c.6403C>T (p.Pro2135Ser)
c.6055C>T (p.Pro2019Ser)
c.5680C>T (p.Pro1894Ser)
c.6487C>T (p.Pro2163Ser)
c.6589C>T (p.Pro2197Ser)
c.6565C>T (p.Pro2189Ser)
c.6532C>T (p.Pro2178Ser)
c.6508C>T (p.Pro2170Ser)
c.6463C>T (p.Pro2155Ser)
3g.53811258C>ACA353259277CACNA1Dc.6398C>A (p.Pro2133His)
n.1727C>A
n.3337C>A
n.1773C>A
c.6338C>A (p.Pro2113His)
c.6266C>A (p.Pro2089His)
c.2459C>A
c.6293C>A (p.Pro2098His)
n.1710C>A
n.1765C>A
c.6365C>A (p.Pro2122His)
c.5417C>A (p.Pro1806His)
c.6593C>A (p.Pro2198His)
c.6482C>A (p.Pro2161His)
c.6404C>A (p.Pro2135His)
c.6056C>A (p.Pro2019His)
c.5681C>A (p.Pro1894His)
c.6488C>A (p.Pro2163His)
c.6590C>A (p.Pro2197His)
c.6566C>A (p.Pro2189His)
c.6533C>A (p.Pro2178His)
c.6509C>A (p.Pro2170His)
c.6464C>A (p.Pro2155His)
 COSMIC COSMIC
3g.53811258C>GCA353259278CACNA1Dc.6398C>G (p.Pro2133Arg)
n.1727C>G
n.3337C>G
n.1773C>G
c.6338C>G (p.Pro2113Arg)
c.6266C>G (p.Pro2089Arg)
c.2459C>G
c.6293C>G (p.Pro2098Arg)
n.1710C>G
n.1765C>G
c.6365C>G (p.Pro2122Arg)
c.5417C>G (p.Pro1806Arg)
c.6593C>G (p.Pro2198Arg)
c.6482C>G (p.Pro2161Arg)
c.6404C>G (p.Pro2135Arg)
c.6056C>G (p.Pro2019Arg)
c.5681C>G (p.Pro1894Arg)
c.6488C>G (p.Pro2163Arg)
c.6590C>G (p.Pro2197Arg)
c.6566C>G (p.Pro2189Arg)
c.6533C>G (p.Pro2178Arg)
c.6509C>G (p.Pro2170Arg)
c.6464C>G (p.Pro2155Arg)
3g.53811258C>TCA353259279CACNA1Dc.6398C>T (p.Pro2133Leu)
n.1727C>T
n.3337C>T
n.1773C>T
c.6338C>T (p.Pro2113Leu)
c.6266C>T (p.Pro2089Leu)
c.2459C>T
c.6293C>T (p.Pro2098Leu)
n.1710C>T
n.1765C>T
c.6365C>T (p.Pro2122Leu)
c.5417C>T (p.Pro1806Leu)
c.6593C>T (p.Pro2198Leu)
c.6482C>T (p.Pro2161Leu)
c.6404C>T (p.Pro2135Leu)
c.6056C>T (p.Pro2019Leu)
c.5681C>T (p.Pro1894Leu)
c.6488C>T (p.Pro2163Leu)
c.6590C>T (p.Pro2197Leu)
c.6566C>T (p.Pro2189Leu)
c.6533C>T (p.Pro2178Leu)
c.6509C>T (p.Pro2170Leu)
c.6464C>T (p.Pro2155Leu)
 COSMIC COSMIC
3g.53811259C>ACA433895987CACNA1Dc.6399C>A (p.Pro2133=)
n.1728C>A
n.3338C>A
n.1774C>A
c.6339C>A (p.Pro2113=)
c.6267C>A (p.Pro2089=)
c.2460C>A
c.6294C>A (p.Pro2098=)
n.1711C>A
n.1766C>A
c.6366C>A (p.Pro2122=)
c.5418C>A (p.Pro1806=)
c.6594C>A (p.Pro2198=)
c.6483C>A (p.Pro2161=)
c.6405C>A (p.Pro2135=)
c.6057C>A (p.Pro2019=)
c.5682C>A (p.Pro1894=)
c.6489C>A (p.Pro2163=)
c.6591C>A (p.Pro2197=)
c.6567C>A (p.Pro2189=)
c.6534C>A (p.Pro2178=)
c.6510C>A (p.Pro2170=)
c.6465C>A (p.Pro2155=)
3g.53811259C>GCA433895988CACNA1Dc.6399C>G (p.Pro2133=)
n.1728C>G
n.3338C>G
n.1774C>G
c.6339C>G (p.Pro2113=)
c.6267C>G (p.Pro2089=)
c.2460C>G
c.6294C>G (p.Pro2098=)
n.1711C>G
n.1766C>G
c.6366C>G (p.Pro2122=)
c.5418C>G (p.Pro1806=)
c.6594C>G (p.Pro2198=)
c.6483C>G (p.Pro2161=)
c.6405C>G (p.Pro2135=)
c.6057C>G (p.Pro2019=)
c.5682C>G (p.Pro1894=)
c.6489C>G (p.Pro2163=)
c.6591C>G (p.Pro2197=)
c.6567C>G (p.Pro2189=)
c.6534C>G (p.Pro2178=)
c.6510C>G (p.Pro2170=)
c.6465C>G (p.Pro2155=)
3g.53811259C>TCA433895989CACNA1Dc.6399C>T (p.Pro2133=)
n.1728C>T
n.3338C>T
n.1774C>T
c.6339C>T (p.Pro2113=)
c.6267C>T (p.Pro2089=)
c.2460C>T
c.6294C>T (p.Pro2098=)
n.1711C>T
n.1766C>T
c.6366C>T (p.Pro2122=)
c.5418C>T (p.Pro1806=)
c.6594C>T (p.Pro2198=)
c.6483C>T (p.Pro2161=)
c.6405C>T (p.Pro2135=)
c.6057C>T (p.Pro2019=)
c.5682C>T (p.Pro1894=)
c.6489C>T (p.Pro2163=)
c.6591C>T (p.Pro2197=)
c.6567C>T (p.Pro2189=)
c.6534C>T (p.Pro2178=)
c.6510C>T (p.Pro2170=)
c.6465C>T (p.Pro2155=)
 COSMIC COSMIC
3g.53811260C>ACA433895990CACNA1Dc.6400C>A (p.Arg2134=)
n.1729C>A
n.3339C>A
n.1775C>A
c.6340C>A (p.Arg2114=)
c.6268C>A (p.Arg2090=)
c.2461C>A
c.6295C>A (p.Arg2099=)
n.1712C>A
n.1767C>A
c.6367C>A (p.Arg2123=)
c.5419C>A (p.Arg1807=)
c.6595C>A (p.Arg2199=)
c.6484C>A (p.Arg2162=)
c.6406C>A (p.Arg2136=)
c.6058C>A (p.Arg2020=)
c.5683C>A (p.Arg1895=)
c.6490C>A (p.Arg2164=)
c.6592C>A (p.Arg2198=)
c.6568C>A (p.Arg2190=)
c.6535C>A (p.Arg2179=)
c.6511C>A (p.Arg2171=)
c.6466C>A (p.Arg2156=)
3g.53811260C=CA1365489011CACNA1Dc.6400C= (p.Arg2134=)
n.1729C=
n.3339C=
n.1775C=
c.6340C= (p.Arg2114=)
c.6268C= (p.Arg2090=)
c.2461C=
c.6295C= (p.Arg2099=)
n.1712C=
n.1767C=
c.6367C= (p.Arg2123=)
c.5419C= (p.Arg1807=)
c.6595C= (p.Arg2199=)
c.6484C= (p.Arg2162=)
c.6406C= (p.Arg2136=)
c.6058C= (p.Arg2020=)
c.5683C= (p.Arg1895=)
c.6490C= (p.Arg2164=)
c.6592C= (p.Arg2198=)
c.6568C= (p.Arg2190=)
c.6535C= (p.Arg2179=)
c.6511C= (p.Arg2171=)
c.6466C= (p.Arg2156=)
3g.53811260C>GCA2455428CACNA1Dc.6400C>G (p.Arg2134Gly)
n.1729C>G
n.3339C>G
n.1775C>G
c.6340C>G (p.Arg2114Gly)
c.6268C>G (p.Arg2090Gly)
c.2461C>G
c.6295C>G (p.Arg2099Gly)
n.1712C>G
n.1767C>G
c.6367C>G (p.Arg2123Gly)
c.5419C>G (p.Arg1807Gly)
c.6595C>G (p.Arg2199Gly)
c.6484C>G (p.Arg2162Gly)
c.6406C>G (p.Arg2136Gly)
c.6058C>G (p.Arg2020Gly)
c.5683C>G (p.Arg1895Gly)
c.6490C>G (p.Arg2164Gly)
c.6592C>G (p.Arg2198Gly)
c.6568C>G (p.Arg2190Gly)
c.6535C>G (p.Arg2179Gly)
c.6511C>G (p.Arg2171Gly)
c.6466C>G (p.Arg2156Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53811260C>TCA353259280CACNA1Dc.6400C>T (p.Arg2134Ter)
n.1729C>T
n.3339C>T
n.1775C>T
c.6340C>T (p.Arg2114Ter)
c.6268C>T (p.Arg2090Ter)
c.2461C>T
c.6295C>T (p.Arg2099Ter)
n.1712C>T
n.1767C>T
c.6367C>T (p.Arg2123Ter)
c.5419C>T (p.Arg1807Ter)
c.6595C>T (p.Arg2199Ter)
c.6484C>T (p.Arg2162Ter)
c.6406C>T (p.Arg2136Ter)
c.6058C>T (p.Arg2020Ter)
c.5683C>T (p.Arg1895Ter)
c.6490C>T (p.Arg2164Ter)
c.6592C>T (p.Arg2198Ter)
c.6568C>T (p.Arg2190Ter)
c.6535C>T (p.Arg2179Ter)
c.6511C>T (p.Arg2171Ter)
c.6466C>T (p.Arg2156Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811261G>ACA2455430CACNA1Dc.6401G>A (p.Arg2134Gln)
n.1730G>A
n.3340G>A
n.1776G>A
c.6341G>A (p.Arg2114Gln)
c.6269G>A (p.Arg2090Gln)
c.2462G>A
c.6296G>A (p.Arg2099Gln)
n.1713G>A
n.1768G>A
c.6368G>A (p.Arg2123Gln)
c.5420G>A (p.Arg1807Gln)
c.6596G>A (p.Arg2199Gln)
c.6485G>A (p.Arg2162Gln)
c.6407G>A (p.Arg2136Gln)
c.6059G>A (p.Arg2020Gln)
c.5684G>A (p.Arg1895Gln)
c.6491G>A (p.Arg2164Gln)
c.6593G>A (p.Arg2198Gln)
c.6569G>A (p.Arg2190Gln)
c.6536G>A (p.Arg2179Gln)
c.6512G>A (p.Arg2171Gln)
c.6467G>A (p.Arg2156Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811261G>CCA353259281CACNA1Dc.6401G>C (p.Arg2134Pro)
n.1730G>C
n.3340G>C
n.1776G>C
c.6341G>C (p.Arg2114Pro)
c.6269G>C (p.Arg2090Pro)
c.2462G>C
c.6296G>C (p.Arg2099Pro)
n.1713G>C
n.1768G>C
c.6368G>C (p.Arg2123Pro)
c.5420G>C (p.Arg1807Pro)
c.6596G>C (p.Arg2199Pro)
c.6485G>C (p.Arg2162Pro)
c.6407G>C (p.Arg2136Pro)
c.6059G>C (p.Arg2020Pro)
c.5684G>C (p.Arg1895Pro)
c.6491G>C (p.Arg2164Pro)
c.6593G>C (p.Arg2198Pro)
c.6569G>C (p.Arg2190Pro)
c.6536G>C (p.Arg2179Pro)
c.6512G>C (p.Arg2171Pro)
c.6467G>C (p.Arg2156Pro)
3g.53811261G=CA1365489012CACNA1Dc.6401G= (p.Arg2134=)
n.1730G=
n.3340G=
n.1776G=
c.6341G= (p.Arg2114=)
c.6269G= (p.Arg2090=)
c.2462G=
c.6296G= (p.Arg2099=)
n.1713G=
n.1768G=
c.6368G= (p.Arg2123=)
c.5420G= (p.Arg1807=)
c.6596G= (p.Arg2199=)
c.6485G= (p.Arg2162=)
c.6407G= (p.Arg2136=)
c.6059G= (p.Arg2020=)
c.5684G= (p.Arg1895=)
c.6491G= (p.Arg2164=)
c.6593G= (p.Arg2198=)
c.6569G= (p.Arg2190=)
c.6536G= (p.Arg2179=)
c.6512G= (p.Arg2171=)
c.6467G= (p.Arg2156=)
3g.53811261G>TCA2455429CACNA1Dc.6401G>T (p.Arg2134Leu)
n.1730G>T
n.3340G>T
n.1776G>T
c.6341G>T (p.Arg2114Leu)
c.6269G>T (p.Arg2090Leu)
c.2462G>T
c.6296G>T (p.Arg2099Leu)
n.1713G>T
n.1768G>T
c.6368G>T (p.Arg2123Leu)
c.5420G>T (p.Arg1807Leu)
c.6596G>T (p.Arg2199Leu)
c.6485G>T (p.Arg2162Leu)
c.6407G>T (p.Arg2136Leu)
c.6059G>T (p.Arg2020Leu)
c.5684G>T (p.Arg1895Leu)
c.6491G>T (p.Arg2164Leu)
c.6593G>T (p.Arg2198Leu)
c.6569G>T (p.Arg2190Leu)
c.6536G>T (p.Arg2179Leu)
c.6512G>T (p.Arg2171Leu)
c.6467G>T (p.Arg2156Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811262A>CCA433895995CACNA1Dc.6402A>C (p.Arg2134=)
n.1731A>C
n.3341A>C
n.1777A>C
c.6342A>C (p.Arg2114=)
c.6270A>C (p.Arg2090=)
c.2463A>C
c.6297A>C (p.Arg2099=)
n.1714A>C
n.1769A>C
c.6369A>C (p.Arg2123=)
c.5421A>C (p.Arg1807=)
c.6597A>C (p.Arg2199=)
c.6486A>C (p.Arg2162=)
c.6408A>C (p.Arg2136=)
c.6060A>C (p.Arg2020=)
c.5685A>C (p.Arg1895=)
c.6492A>C (p.Arg2164=)
c.6594A>C (p.Arg2198=)
c.6570A>C (p.Arg2190=)
c.6537A>C (p.Arg2179=)
c.6513A>C (p.Arg2171=)
c.6468A>C (p.Arg2156=)
3g.53811262A>GCA433895996CACNA1Dc.6402A>G (p.Arg2134=)
n.1731A>G
n.3341A>G
n.1777A>G
c.6342A>G (p.Arg2114=)
c.6270A>G (p.Arg2090=)
c.2463A>G
c.6297A>G (p.Arg2099=)
n.1714A>G
n.1769A>G
c.6369A>G (p.Arg2123=)
c.5421A>G (p.Arg1807=)
c.6597A>G (p.Arg2199=)
c.6486A>G (p.Arg2162=)
c.6408A>G (p.Arg2136=)
c.6060A>G (p.Arg2020=)
c.5685A>G (p.Arg1895=)
c.6492A>G (p.Arg2164=)
c.6594A>G (p.Arg2198=)
c.6570A>G (p.Arg2190=)
c.6537A>G (p.Arg2179=)
c.6513A>G (p.Arg2171=)
c.6468A>G (p.Arg2156=)
3g.53811262A>TCA433895997CACNA1Dc.6402A>T (p.Arg2134=)
n.1731A>T
n.3341A>T
n.1777A>T
c.6342A>T (p.Arg2114=)
c.6270A>T (p.Arg2090=)
c.2463A>T
c.6297A>T (p.Arg2099=)
n.1714A>T
n.1769A>T
c.6369A>T (p.Arg2123=)
c.5421A>T (p.Arg1807=)
c.6597A>T (p.Arg2199=)
c.6486A>T (p.Arg2162=)
c.6408A>T (p.Arg2136=)
c.6060A>T (p.Arg2020=)
c.5685A>T (p.Arg1895=)
c.6492A>T (p.Arg2164=)
c.6594A>T (p.Arg2198=)
c.6570A>T (p.Arg2190=)
c.6537A>T (p.Arg2179=)
c.6513A>T (p.Arg2171=)
c.6468A>T (p.Arg2156=)
3g.53811263G>ACA353259282CACNA1Dc.6403G>A (p.Ala2135Thr)
n.1732G>A
n.3342G>A
n.1778G>A
c.6343G>A (p.Ala2115Thr)
c.6271G>A (p.Ala2091Thr)
c.2464G>A
c.6298G>A (p.Ala2100Thr)
n.1715G>A
n.1770G>A
c.6370G>A (p.Ala2124Thr)
c.5422G>A (p.Ala1808Thr)
c.6598G>A (p.Ala2200Thr)
c.6487G>A (p.Ala2163Thr)
c.6409G>A (p.Ala2137Thr)
c.6061G>A (p.Ala2021Thr)
c.5686G>A (p.Ala1896Thr)
c.6493G>A (p.Ala2165Thr)
c.6595G>A (p.Ala2199Thr)
c.6571G>A (p.Ala2191Thr)
c.6538G>A (p.Ala2180Thr)
c.6514G>A (p.Ala2172Thr)
c.6469G>A (p.Ala2157Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.53811263G>CCA353259283CACNA1Dc.6403G>C (p.Ala2135Pro)
n.1732G>C
n.3342G>C
n.1778G>C
c.6343G>C (p.Ala2115Pro)
c.6271G>C (p.Ala2091Pro)
c.2464G>C
c.6298G>C (p.Ala2100Pro)
n.1715G>C
n.1770G>C
c.6370G>C (p.Ala2124Pro)
c.5422G>C (p.Ala1808Pro)
c.6598G>C (p.Ala2200Pro)
c.6487G>C (p.Ala2163Pro)
c.6409G>C (p.Ala2137Pro)
c.6061G>C (p.Ala2021Pro)
c.5686G>C (p.Ala1896Pro)
c.6493G>C (p.Ala2165Pro)
c.6595G>C (p.Ala2199Pro)
c.6571G>C (p.Ala2191Pro)
c.6538G>C (p.Ala2180Pro)
c.6514G>C (p.Ala2172Pro)
c.6469G>C (p.Ala2157Pro)
3g.53811263G=CA1365489013CACNA1Dc.6403G= (p.Ala2135=)
n.1732G=
n.3342G=
n.1778G=
c.6343G= (p.Ala2115=)
c.6271G= (p.Ala2091=)
c.2464G=
c.6298G= (p.Ala2100=)
n.1715G=
n.1770G=
c.6370G= (p.Ala2124=)
c.5422G= (p.Ala1808=)
c.6598G= (p.Ala2200=)
c.6487G= (p.Ala2163=)
c.6409G= (p.Ala2137=)
c.6061G= (p.Ala2021=)
c.5686G= (p.Ala1896=)
c.6493G= (p.Ala2165=)
c.6595G= (p.Ala2199=)
c.6571G= (p.Ala2191=)
c.6538G= (p.Ala2180=)
c.6514G= (p.Ala2172=)
c.6469G= (p.Ala2157=)
3g.53811263G>TCA353259284CACNA1Dc.6403G>T (p.Ala2135Ser)
n.1732G>T
n.3342G>T
n.1778G>T
c.6343G>T (p.Ala2115Ser)
c.6271G>T (p.Ala2091Ser)
c.2464G>T
c.6298G>T (p.Ala2100Ser)
n.1715G>T
n.1770G>T
c.6370G>T (p.Ala2124Ser)
c.5422G>T (p.Ala1808Ser)
c.6598G>T (p.Ala2200Ser)
c.6487G>T (p.Ala2163Ser)
c.6409G>T (p.Ala2137Ser)
c.6061G>T (p.Ala2021Ser)
c.5686G>T (p.Ala1896Ser)
c.6493G>T (p.Ala2165Ser)
c.6595G>T (p.Ala2199Ser)
c.6571G>T (p.Ala2191Ser)
c.6538G>T (p.Ala2180Ser)
c.6514G>T (p.Ala2172Ser)
c.6469G>T (p.Ala2157Ser)
3g.53811264C>ACA353259287CACNA1Dc.6404C>A (p.Ala2135Asp)
n.1733C>A
n.3343C>A
n.1779C>A
c.6344C>A (p.Ala2115Asp)
c.6272C>A (p.Ala2091Asp)
c.2465C>A
c.6299C>A (p.Ala2100Asp)
n.1716C>A
n.1771C>A
c.6371C>A (p.Ala2124Asp)
c.5423C>A (p.Ala1808Asp)
c.6599C>A (p.Ala2200Asp)
c.6488C>A (p.Ala2163Asp)
c.6410C>A (p.Ala2137Asp)
c.6062C>A (p.Ala2021Asp)
c.5687C>A (p.Ala1896Asp)
c.6494C>A (p.Ala2165Asp)
c.6596C>A (p.Ala2199Asp)
c.6572C>A (p.Ala2191Asp)
c.6539C>A (p.Ala2180Asp)
c.6515C>A (p.Ala2172Asp)
c.6470C>A (p.Ala2157Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.53811264C=CA1365489014CACNA1Dc.6404C= (p.Ala2135=)
n.1733C=
n.3343C=
n.1779C=
c.6344C= (p.Ala2115=)
c.6272C= (p.Ala2091=)
c.2465C=
c.6299C= (p.Ala2100=)
n.1716C=
n.1771C=
c.6371C= (p.Ala2124=)
c.5423C= (p.Ala1808=)
c.6599C= (p.Ala2200=)
c.6488C= (p.Ala2163=)
c.6410C= (p.Ala2137=)
c.6062C= (p.Ala2021=)
c.5687C= (p.Ala1896=)
c.6494C= (p.Ala2165=)
c.6596C= (p.Ala2199=)
c.6572C= (p.Ala2191=)
c.6539C= (p.Ala2180=)
c.6515C= (p.Ala2172=)
c.6470C= (p.Ala2157=)
3g.53811264C>GCA353259286CACNA1Dc.6404C>G (p.Ala2135Gly)
n.1733C>G
n.3343C>G
n.1779C>G
c.6344C>G (p.Ala2115Gly)
c.6272C>G (p.Ala2091Gly)
c.2465C>G
c.6299C>G (p.Ala2100Gly)
n.1716C>G
n.1771C>G
c.6371C>G (p.Ala2124Gly)
c.5423C>G (p.Ala1808Gly)
c.6599C>G (p.Ala2200Gly)
c.6488C>G (p.Ala2163Gly)
c.6410C>G (p.Ala2137Gly)
c.6062C>G (p.Ala2021Gly)
c.5687C>G (p.Ala1896Gly)
c.6494C>G (p.Ala2165Gly)
c.6596C>G (p.Ala2199Gly)
c.6572C>G (p.Ala2191Gly)
c.6539C>G (p.Ala2180Gly)
c.6515C>G (p.Ala2172Gly)
c.6470C>G (p.Ala2157Gly)
3g.53811264C>TCA353259285CACNA1Dc.6404C>T (p.Ala2135Val)
n.1733C>T
n.3343C>T
n.1779C>T
c.6344C>T (p.Ala2115Val)
c.6272C>T (p.Ala2091Val)
c.2465C>T
c.6299C>T (p.Ala2100Val)
n.1716C>T
n.1771C>T
c.6371C>T (p.Ala2124Val)
c.5423C>T (p.Ala1808Val)
c.6599C>T (p.Ala2200Val)
c.6488C>T (p.Ala2163Val)
c.6410C>T (p.Ala2137Val)
c.6062C>T (p.Ala2021Val)
c.5687C>T (p.Ala1896Val)
c.6494C>T (p.Ala2165Val)
c.6596C>T (p.Ala2199Val)
c.6572C>T (p.Ala2191Val)
c.6539C>T (p.Ala2180Val)
c.6515C>T (p.Ala2172Val)
c.6470C>T (p.Ala2157Val)
 COSMIC COSMIC
3g.53811265C>ACA433896000CACNA1Dc.6405C>A (p.Ala2135=)
n.1734C>A
n.3344C>A
n.1780C>A
c.6345C>A (p.Ala2115=)
c.6273C>A (p.Ala2091=)
c.2466C>A
c.6300C>A (p.Ala2100=)
n.1717C>A
n.1772C>A
c.6372C>A (p.Ala2124=)
c.5424C>A (p.Ala1808=)
c.6600C>A (p.Ala2200=)
c.6489C>A (p.Ala2163=)
c.6411C>A (p.Ala2137=)
c.6063C>A (p.Ala2021=)
c.5688C>A (p.Ala1896=)
c.6495C>A (p.Ala2165=)
c.6597C>A (p.Ala2199=)
c.6573C>A (p.Ala2191=)
c.6540C>A (p.Ala2180=)
c.6516C>A (p.Ala2172=)
c.6471C>A (p.Ala2157=)
3g.53811265C>GCA433896001CACNA1Dc.6405C>G (p.Ala2135=)
n.1734C>G
n.3344C>G
n.1780C>G
c.6345C>G (p.Ala2115=)
c.6273C>G (p.Ala2091=)
c.2466C>G
c.6300C>G (p.Ala2100=)
n.1717C>G
n.1772C>G
c.6372C>G (p.Ala2124=)
c.5424C>G (p.Ala1808=)
c.6600C>G (p.Ala2200=)
c.6489C>G (p.Ala2163=)
c.6411C>G (p.Ala2137=)
c.6063C>G (p.Ala2021=)
c.5688C>G (p.Ala1896=)
c.6495C>G (p.Ala2165=)
c.6597C>G (p.Ala2199=)
c.6573C>G (p.Ala2191=)
c.6540C>G (p.Ala2180=)
c.6516C>G (p.Ala2172=)
c.6471C>G (p.Ala2157=)
 gnomAD v4
3g.53811265C>TCA433896002CACNA1Dc.6405C>T (p.Ala2135=)
n.1734C>T
n.3344C>T
n.1780C>T
c.6345C>T (p.Ala2115=)
c.6273C>T (p.Ala2091=)
c.2466C>T
c.6300C>T (p.Ala2100=)
n.1717C>T
n.1772C>T
c.6372C>T (p.Ala2124=)
c.5424C>T (p.Ala1808=)
c.6600C>T (p.Ala2200=)
c.6489C>T (p.Ala2163=)
c.6411C>T (p.Ala2137=)
c.6063C>T (p.Ala2021=)
c.5688C>T (p.Ala1896=)
c.6495C>T (p.Ala2165=)
c.6597C>T (p.Ala2199=)
c.6573C>T (p.Ala2191=)
c.6540C>T (p.Ala2180=)
c.6516C>T (p.Ala2172=)
c.6471C>T (p.Ala2157=)
 gnomAD v4
3g.53811266A>CCA353259288CACNA1Dc.6406A>C (p.Asn2136His)
n.1735A>C
n.3345A>C
n.1781A>C
c.6346A>C (p.Asn2116His)
c.6274A>C (p.Asn2092His)
c.2467A>C
c.6301A>C (p.Asn2101His)
n.1718A>C
n.1773A>C
c.6373A>C (p.Asn2125His)
c.5425A>C (p.Asn1809His)
c.6601A>C (p.Asn2201His)
c.6490A>C (p.Asn2164His)
c.6412A>C (p.Asn2138His)
c.6064A>C (p.Asn2022His)
c.5689A>C (p.Asn1897His)
c.6496A>C (p.Asn2166His)
c.6598A>C (p.Asn2200His)
c.6574A>C (p.Asn2192His)
c.6541A>C (p.Asn2181His)
c.6517A>C (p.Asn2173His)
c.6472A>C (p.Asn2158His)
3g.53811266A>GCA353259290CACNA1Dc.6406A>G (p.Asn2136Asp)
n.1735A>G
n.3345A>G
n.1781A>G
c.6346A>G (p.Asn2116Asp)
c.6274A>G (p.Asn2092Asp)
c.2467A>G
c.6301A>G (p.Asn2101Asp)
n.1718A>G
n.1773A>G
c.6373A>G (p.Asn2125Asp)
c.5425A>G (p.Asn1809Asp)
c.6601A>G (p.Asn2201Asp)
c.6490A>G (p.Asn2164Asp)
c.6412A>G (p.Asn2138Asp)
c.6064A>G (p.Asn2022Asp)
c.5689A>G (p.Asn1897Asp)
c.6496A>G (p.Asn2166Asp)
c.6598A>G (p.Asn2200Asp)
c.6574A>G (p.Asn2192Asp)
c.6541A>G (p.Asn2181Asp)
c.6517A>G (p.Asn2173Asp)
c.6472A>G (p.Asn2158Asp)
3g.53811266A>TCA353259289CACNA1Dc.6406A>T (p.Asn2136Tyr)
n.1735A>T
n.3345A>T
n.1781A>T
c.6346A>T (p.Asn2116Tyr)
c.6274A>T (p.Asn2092Tyr)
c.2467A>T
c.6301A>T (p.Asn2101Tyr)
n.1718A>T
n.1773A>T
c.6373A>T (p.Asn2125Tyr)
c.5425A>T (p.Asn1809Tyr)
c.6601A>T (p.Asn2201Tyr)
c.6490A>T (p.Asn2164Tyr)
c.6412A>T (p.Asn2138Tyr)
c.6064A>T (p.Asn2022Tyr)
c.5689A>T (p.Asn1897Tyr)
c.6496A>T (p.Asn2166Tyr)
c.6598A>T (p.Asn2200Tyr)
c.6574A>T (p.Asn2192Tyr)
c.6541A>T (p.Asn2181Tyr)
c.6517A>T (p.Asn2173Tyr)
c.6472A>T (p.Asn2158Tyr)
3g.53811267A=CA1365489016CACNA1Dc.6407A= (p.Asn2136=)
n.1736A=
n.3346A=
n.1782A=
c.6347A= (p.Asn2116=)
c.6275A= (p.Asn2092=)
c.2468A=
c.6302A= (p.Asn2101=)
n.1719A=
n.1774A=
c.6374A= (p.Asn2125=)
c.5426A= (p.Asn1809=)
c.6602A= (p.Asn2201=)
c.6491A= (p.Asn2164=)
c.6413A= (p.Asn2138=)
c.6065A= (p.Asn2022=)
c.5690A= (p.Asn1897=)
c.6497A= (p.Asn2166=)
c.6599A= (p.Asn2200=)
c.6575A= (p.Asn2192=)
c.6542A= (p.Asn2181=)
c.6518A= (p.Asn2173=)
c.6473A= (p.Asn2158=)
3g.53811267A>CCA353259291CACNA1Dc.6407A>C (p.Asn2136Thr)
n.1736A>C
n.3346A>C
n.1782A>C
c.6347A>C (p.Asn2116Thr)
c.6275A>C (p.Asn2092Thr)
c.2468A>C
c.6302A>C (p.Asn2101Thr)
n.1719A>C
n.1774A>C
c.6374A>C (p.Asn2125Thr)
c.5426A>C (p.Asn1809Thr)
c.6602A>C (p.Asn2201Thr)
c.6491A>C (p.Asn2164Thr)
c.6413A>C (p.Asn2138Thr)
c.6065A>C (p.Asn2022Thr)
c.5690A>C (p.Asn1897Thr)
c.6497A>C (p.Asn2166Thr)
c.6599A>C (p.Asn2200Thr)
c.6575A>C (p.Asn2192Thr)
c.6542A>C (p.Asn2181Thr)
c.6518A>C (p.Asn2173Thr)
c.6473A>C (p.Asn2158Thr)
3g.53811267A>GCA353259292CACNA1Dc.6407A>G (p.Asn2136Ser)
n.1736A>G
n.3346A>G
n.1782A>G
c.6347A>G (p.Asn2116Ser)
c.6275A>G (p.Asn2092Ser)
c.2468A>G
c.6302A>G (p.Asn2101Ser)
n.1719A>G
n.1774A>G
c.6374A>G (p.Asn2125Ser)
c.5426A>G (p.Asn1809Ser)
c.6602A>G (p.Asn2201Ser)
c.6491A>G (p.Asn2164Ser)
c.6413A>G (p.Asn2138Ser)
c.6065A>G (p.Asn2022Ser)
c.5690A>G (p.Asn1897Ser)
c.6497A>G (p.Asn2166Ser)
c.6599A>G (p.Asn2200Ser)
c.6575A>G (p.Asn2192Ser)
c.6542A>G (p.Asn2181Ser)
c.6518A>G (p.Asn2173Ser)
c.6473A>G (p.Asn2158Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811267A>TCA353259293CACNA1Dc.6407A>T (p.Asn2136Ile)
n.1736A>T
n.3346A>T
n.1782A>T
c.6347A>T (p.Asn2116Ile)
c.6275A>T (p.Asn2092Ile)
c.2468A>T
c.6302A>T (p.Asn2101Ile)
n.1719A>T
n.1774A>T
c.6374A>T (p.Asn2125Ile)
c.5426A>T (p.Asn1809Ile)
c.6602A>T (p.Asn2201Ile)
c.6491A>T (p.Asn2164Ile)
c.6413A>T (p.Asn2138Ile)
c.6065A>T (p.Asn2022Ile)
c.5690A>T (p.Asn1897Ile)
c.6497A>T (p.Asn2166Ile)
c.6599A>T (p.Asn2200Ile)
c.6575A>T (p.Asn2192Ile)
c.6542A>T (p.Asn2181Ile)
c.6518A>T (p.Asn2173Ile)
c.6473A>T (p.Asn2158Ile)
3g.53811267_53811268delinsACCA1365489015CACNA1Dc.6407_6408delinsAC (p.Asn2136=)
n.1736_1737delinsAC
n.3346_3347delinsAC
n.1782_1783delinsAC
c.6347_6348delinsAC (p.Asn2116=)
c.6275_6276delinsAC (p.Asn2092=)
c.2468_2469delinsAC
c.6302_6303delinsAC (p.Asn2101=)
n.1719_1720delinsAC
n.1774_1775delinsAC
c.6374_6375delinsAC (p.Asn2125=)
c.5426_5427delinsAC (p.Asn1809=)
c.6602_6603delinsAC (p.Asn2201=)
c.6491_6492delinsAC (p.Asn2164=)
c.6413_6414delinsAC (p.Asn2138=)
c.6065_6066delinsAC (p.Asn2022=)
c.5690_5691delinsAC (p.Asn1897=)
c.6497_6498delinsAC (p.Asn2166=)
c.6599_6600delinsAC (p.Asn2200=)
c.6575_6576delinsAC (p.Asn2192=)
c.6542_6543delinsAC (p.Asn2181=)
c.6518_6519delinsAC (p.Asn2173=)
c.6473_6474delinsAC (p.Asn2158=)
3g.53811267_53811268delinsGTCA16618005CACNA1Dc.6407_6408delinsGT (p.Asn2136Ser)
n.1736_1737delinsGT
n.3346_3347delinsGT
n.1782_1783delinsGT
c.6347_6348delinsGT (p.Asn2116Ser)
c.6275_6276delinsGT (p.Asn2092Ser)
c.2468_2469delinsGT
c.6302_6303delinsGT (p.Asn2101Ser)
n.1719_1720delinsGT
n.1774_1775delinsGT
c.6374_6375delinsGT (p.Asn2125Ser)
c.5426_5427delinsGT (p.Asn1809Ser)
c.6602_6603delinsGT (p.Asn2201Ser)
c.6491_6492delinsGT (p.Asn2164Ser)
c.6413_6414delinsGT (p.Asn2138Ser)
c.6065_6066delinsGT (p.Asn2022Ser)
c.5690_5691delinsGT (p.Asn1897Ser)
c.6497_6498delinsGT (p.Asn2166Ser)
c.6599_6600delinsGT (p.Asn2200Ser)
c.6575_6576delinsGT (p.Asn2192Ser)
c.6542_6543delinsGT (p.Asn2181Ser)
c.6518_6519delinsGT (p.Asn2173Ser)
c.6473_6474delinsGT (p.Asn2158Ser)
 ClinVar dbSNP
3g.53811268C>ACA353259294CACNA1Dc.6408C>A (p.Asn2136Lys)
n.1737C>A
n.3347C>A
n.1783C>A
c.6348C>A (p.Asn2116Lys)
c.6276C>A (p.Asn2092Lys)
c.2469C>A
c.6303C>A (p.Asn2101Lys)
n.1720C>A
n.1775C>A
c.6375C>A (p.Asn2125Lys)
c.5427C>A (p.Asn1809Lys)
c.6603C>A (p.Asn2201Lys)
c.6492C>A (p.Asn2164Lys)
c.6414C>A (p.Asn2138Lys)
c.6066C>A (p.Asn2022Lys)
c.5691C>A (p.Asn1897Lys)
c.6498C>A (p.Asn2166Lys)
c.6600C>A (p.Asn2200Lys)
c.6576C>A (p.Asn2192Lys)
c.6543C>A (p.Asn2181Lys)
c.6519C>A (p.Asn2173Lys)
c.6474C>A (p.Asn2158Lys)
 ClinVar
3g.53811268C=CA1365489017CACNA1Dc.6408C= (p.Asn2136=)
n.1737C=
n.3347C=
n.1783C=
c.6348C= (p.Asn2116=)
c.6276C= (p.Asn2092=)
c.2469C=
c.6303C= (p.Asn2101=)
n.1720C=
n.1775C=
c.6375C= (p.Asn2125=)
c.5427C= (p.Asn1809=)
c.6603C= (p.Asn2201=)
c.6492C= (p.Asn2164=)
c.6414C= (p.Asn2138=)
c.6066C= (p.Asn2022=)
c.5691C= (p.Asn1897=)
c.6498C= (p.Asn2166=)
c.6600C= (p.Asn2200=)
c.6576C= (p.Asn2192=)
c.6543C= (p.Asn2181=)
c.6519C= (p.Asn2173=)
c.6474C= (p.Asn2158=)
3g.53811268C>GCA353259295CACNA1Dc.6408C>G (p.Asn2136Lys)
n.1737C>G
n.3347C>G
n.1783C>G
c.6348C>G (p.Asn2116Lys)
c.6276C>G (p.Asn2092Lys)
c.2469C>G
c.6303C>G (p.Asn2101Lys)
n.1720C>G
n.1775C>G
c.6375C>G (p.Asn2125Lys)
c.5427C>G (p.Asn1809Lys)
c.6603C>G (p.Asn2201Lys)
c.6492C>G (p.Asn2164Lys)
c.6414C>G (p.Asn2138Lys)
c.6066C>G (p.Asn2022Lys)
c.5691C>G (p.Asn1897Lys)
c.6498C>G (p.Asn2166Lys)
c.6600C>G (p.Asn2200Lys)
c.6576C>G (p.Asn2192Lys)
c.6543C>G (p.Asn2181Lys)
c.6519C>G (p.Asn2173Lys)
c.6474C>G (p.Asn2158Lys)
 dbSNP
3g.53811268C>TCA2455431CACNA1Dc.6408C>T (p.Asn2136=)
n.1737C>T
n.3347C>T
n.1783C>T
c.6348C>T (p.Asn2116=)
c.6276C>T (p.Asn2092=)
c.2469C>T
c.6303C>T (p.Asn2101=)
n.1720C>T
n.1775C>T
c.6375C>T (p.Asn2125=)
c.5427C>T (p.Asn1809=)
c.6603C>T (p.Asn2201=)
c.6492C>T (p.Asn2164=)
c.6414C>T (p.Asn2138=)
c.6066C>T (p.Asn2022=)
c.5691C>T (p.Asn1897=)
c.6498C>T (p.Asn2166=)
c.6600C>T (p.Asn2200=)
c.6576C>T (p.Asn2192=)
c.6543C>T (p.Asn2181=)
c.6519C>T (p.Asn2173=)
c.6474C>T (p.Asn2158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811269G>ACA2455432CACNA1Dc.6409G>A (p.Gly2137Arg)
n.1738G>A
n.3348G>A
n.1784G>A
c.6349G>A (p.Gly2117Arg)
c.6277G>A (p.Gly2093Arg)
c.2470G>A
c.6304G>A (p.Gly2102Arg)
n.1721G>A
n.1776G>A
c.6376G>A (p.Gly2126Arg)
c.5428G>A (p.Gly1810Arg)
c.6604G>A (p.Gly2202Arg)
c.6493G>A (p.Gly2165Arg)
c.6415G>A (p.Gly2139Arg)
c.6067G>A (p.Gly2023Arg)
c.5692G>A (p.Gly1898Arg)
c.6499G>A (p.Gly2167Arg)
c.6601G>A (p.Gly2201Arg)
c.6577G>A (p.Gly2193Arg)
c.6544G>A (p.Gly2182Arg)
c.6520G>A (p.Gly2174Arg)
c.6475G>A (p.Gly2159Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811269G>CCA353259296CACNA1Dc.6409G>C (p.Gly2137Arg)
n.1738G>C
n.3348G>C
n.1784G>C
c.6349G>C (p.Gly2117Arg)
c.6277G>C (p.Gly2093Arg)
c.2470G>C
c.6304G>C (p.Gly2102Arg)
n.1721G>C
n.1776G>C
c.6376G>C (p.Gly2126Arg)
c.5428G>C (p.Gly1810Arg)
c.6604G>C (p.Gly2202Arg)
c.6493G>C (p.Gly2165Arg)
c.6415G>C (p.Gly2139Arg)
c.6067G>C (p.Gly2023Arg)
c.5692G>C (p.Gly1898Arg)
c.6499G>C (p.Gly2167Arg)
c.6601G>C (p.Gly2201Arg)
c.6577G>C (p.Gly2193Arg)
c.6544G>C (p.Gly2182Arg)
c.6520G>C (p.Gly2174Arg)
c.6475G>C (p.Gly2159Arg)
3g.53811269G=CA1365489018CACNA1Dc.6409G= (p.Gly2137=)
n.1738G=
n.3348G=
n.1784G=
c.6349G= (p.Gly2117=)
c.6277G= (p.Gly2093=)
c.2470G=
c.6304G= (p.Gly2102=)
n.1721G=
n.1776G=
c.6376G= (p.Gly2126=)
c.5428G= (p.Gly1810=)
c.6604G= (p.Gly2202=)
c.6493G= (p.Gly2165=)
c.6415G= (p.Gly2139=)
c.6067G= (p.Gly2023=)
c.5692G= (p.Gly1898=)
c.6499G= (p.Gly2167=)
c.6601G= (p.Gly2201=)
c.6577G= (p.Gly2193=)
c.6544G= (p.Gly2182=)
c.6520G= (p.Gly2174=)
c.6475G= (p.Gly2159=)
3g.53811269G>TCA353259297CACNA1Dc.6409G>T (p.Gly2137Trp)
n.1738G>T
n.3348G>T
n.1784G>T
c.6349G>T (p.Gly2117Trp)
c.6277G>T (p.Gly2093Trp)
c.2470G>T
c.6304G>T (p.Gly2102Trp)
n.1721G>T
n.1776G>T
c.6376G>T (p.Gly2126Trp)
c.5428G>T (p.Gly1810Trp)
c.6604G>T (p.Gly2202Trp)
c.6493G>T (p.Gly2165Trp)
c.6415G>T (p.Gly2139Trp)
c.6067G>T (p.Gly2023Trp)
c.5692G>T (p.Gly1898Trp)
c.6499G>T (p.Gly2167Trp)
c.6601G>T (p.Gly2201Trp)
c.6577G>T (p.Gly2193Trp)
c.6544G>T (p.Gly2182Trp)
c.6520G>T (p.Gly2174Trp)
c.6475G>T (p.Gly2159Trp)
3g.53811270G>ACA353259298CACNA1Dc.6410G>A (p.Gly2137Glu)
n.1739G>A
n.3349G>A
n.1785G>A
c.6350G>A (p.Gly2117Glu)
c.6278G>A (p.Gly2093Glu)
c.2471G>A
c.6305G>A (p.Gly2102Glu)
n.1722G>A
n.1777G>A
c.6377G>A (p.Gly2126Glu)
c.5429G>A (p.Gly1810Glu)
c.6605G>A (p.Gly2202Glu)
c.6494G>A (p.Gly2165Glu)
c.6416G>A (p.Gly2139Glu)
c.6068G>A (p.Gly2023Glu)
c.5693G>A (p.Gly1898Glu)
c.6500G>A (p.Gly2167Glu)
c.6602G>A (p.Gly2201Glu)
c.6578G>A (p.Gly2193Glu)
c.6545G>A (p.Gly2182Glu)
c.6521G>A (p.Gly2174Glu)
c.6476G>A (p.Gly2159Glu)
 COSMIC COSMIC
3g.53811270G>CCA353259299CACNA1Dc.6410G>C (p.Gly2137Ala)
n.1739G>C
n.3349G>C
n.1785G>C
c.6350G>C (p.Gly2117Ala)
c.6278G>C (p.Gly2093Ala)
c.2471G>C
c.6305G>C (p.Gly2102Ala)
n.1722G>C
n.1777G>C
c.6377G>C (p.Gly2126Ala)
c.5429G>C (p.Gly1810Ala)
c.6605G>C (p.Gly2202Ala)
c.6494G>C (p.Gly2165Ala)
c.6416G>C (p.Gly2139Ala)
c.6068G>C (p.Gly2023Ala)
c.5693G>C (p.Gly1898Ala)
c.6500G>C (p.Gly2167Ala)
c.6602G>C (p.Gly2201Ala)
c.6578G>C (p.Gly2193Ala)
c.6545G>C (p.Gly2182Ala)
c.6521G>C (p.Gly2174Ala)
c.6476G>C (p.Gly2159Ala)
3g.53811270G>TCA353259300CACNA1Dc.6410G>T (p.Gly2137Val)
n.1739G>T
n.3349G>T
n.1785G>T
c.6350G>T (p.Gly2117Val)
c.6278G>T (p.Gly2093Val)
c.2471G>T
c.6305G>T (p.Gly2102Val)
n.1722G>T
n.1777G>T
c.6377G>T (p.Gly2126Val)
c.5429G>T (p.Gly1810Val)
c.6605G>T (p.Gly2202Val)
c.6494G>T (p.Gly2165Val)
c.6416G>T (p.Gly2139Val)
c.6068G>T (p.Gly2023Val)
c.5693G>T (p.Gly1898Val)
c.6500G>T (p.Gly2167Val)
c.6602G>T (p.Gly2201Val)
c.6578G>T (p.Gly2193Val)
c.6545G>T (p.Gly2182Val)
c.6521G>T (p.Gly2174Val)
c.6476G>T (p.Gly2159Val)
3g.53811271G>ACA433896014CACNA1Dc.6411G>A (p.Gly2137=)
n.1740G>A
n.3350G>A
n.1786G>A
c.6351G>A (p.Gly2117=)
c.6279G>A (p.Gly2093=)
c.2472G>A
c.6306G>A (p.Gly2102=)
n.1723G>A
n.1778G>A
c.6378G>A (p.Gly2126=)
c.5430G>A (p.Gly1810=)
c.6606G>A (p.Gly2202=)
c.6495G>A (p.Gly2165=)
c.6417G>A (p.Gly2139=)
c.6069G>A (p.Gly2023=)
c.5694G>A (p.Gly1898=)
c.6501G>A (p.Gly2167=)
c.6603G>A (p.Gly2201=)
c.6579G>A (p.Gly2193=)
c.6546G>A (p.Gly2182=)
c.6522G>A (p.Gly2174=)
c.6477G>A (p.Gly2159=)
 COSMIC COSMIC
3g.53811271G>CCA433896012CACNA1Dc.6411G>C (p.Gly2137=)
n.1740G>C
n.3350G>C
n.1786G>C
c.6351G>C (p.Gly2117=)
c.6279G>C (p.Gly2093=)
c.2472G>C
c.6306G>C (p.Gly2102=)
n.1723G>C
n.1778G>C
c.6378G>C (p.Gly2126=)
c.5430G>C (p.Gly1810=)
c.6606G>C (p.Gly2202=)
c.6495G>C (p.Gly2165=)
c.6417G>C (p.Gly2139=)
c.6069G>C (p.Gly2023=)
c.5694G>C (p.Gly1898=)
c.6501G>C (p.Gly2167=)
c.6603G>C (p.Gly2201=)
c.6579G>C (p.Gly2193=)
c.6546G>C (p.Gly2182=)
c.6522G>C (p.Gly2174=)
c.6477G>C (p.Gly2159=)
3g.53811271G>TCA433896009CACNA1Dc.6411G>T (p.Gly2137=)
n.1740G>T
n.3350G>T
n.1786G>T
c.6351G>T (p.Gly2117=)
c.6279G>T (p.Gly2093=)
c.2472G>T
c.6306G>T (p.Gly2102=)
n.1723G>T
n.1778G>T
c.6378G>T (p.Gly2126=)
c.5430G>T (p.Gly1810=)
c.6606G>T (p.Gly2202=)
c.6495G>T (p.Gly2165=)
c.6417G>T (p.Gly2139=)
c.6069G>T (p.Gly2023=)
c.5694G>T (p.Gly1898=)
c.6501G>T (p.Gly2167=)
c.6603G>T (p.Gly2201=)
c.6579G>T (p.Gly2193=)
c.6546G>T (p.Gly2182=)
c.6522G>T (p.Gly2174=)
c.6477G>T (p.Gly2159=)
3g.53811272G>ACA353259302CACNA1Dc.6412G>A (p.Asp2138Asn)
n.1741G>A
n.3351G>A
n.1787G>A
c.6352G>A (p.Asp2118Asn)
c.6280G>A (p.Asp2094Asn)
c.2473G>A
c.6307G>A (p.Asp2103Asn)
n.1724G>A
n.1779G>A
c.6379G>A (p.Asp2127Asn)
c.5431G>A (p.Asp1811Asn)
c.6607G>A (p.Asp2203Asn)
c.6496G>A (p.Asp2166Asn)
c.6418G>A (p.Asp2140Asn)
c.6070G>A (p.Asp2024Asn)
c.5695G>A (p.Asp1899Asn)
c.6502G>A (p.Asp2168Asn)
c.6604G>A (p.Asp2202Asn)
c.6580G>A (p.Asp2194Asn)
c.6547G>A (p.Asp2183Asn)
c.6523G>A (p.Asp2175Asn)
c.6478G>A (p.Asp2160Asn)
 gnomAD v4
3g.53811272G>CCA2455433CACNA1Dc.6412G>C (p.Asp2138His)
n.1741G>C
n.3351G>C
n.1787G>C
c.6352G>C (p.Asp2118His)
c.6280G>C (p.Asp2094His)
c.2473G>C
c.6307G>C (p.Asp2103His)
n.1724G>C
n.1779G>C
c.6379G>C (p.Asp2127His)
c.5431G>C (p.Asp1811His)
c.6607G>C (p.Asp2203His)
c.6496G>C (p.Asp2166His)
c.6418G>C (p.Asp2140His)
c.6070G>C (p.Asp2024His)
c.5695G>C (p.Asp1899His)
c.6502G>C (p.Asp2168His)
c.6604G>C (p.Asp2202His)
c.6580G>C (p.Asp2194His)
c.6547G>C (p.Asp2183His)
c.6523G>C (p.Asp2175His)
c.6478G>C (p.Asp2160His)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53811272G=CA1365489019CACNA1Dc.6412G= (p.Asp2138=)
n.1741G=
n.3351G=
n.1787G=
c.6352G= (p.Asp2118=)
c.6280G= (p.Asp2094=)
c.2473G=
c.6307G= (p.Asp2103=)
n.1724G=
n.1779G=
c.6379G= (p.Asp2127=)
c.5431G= (p.Asp1811=)
c.6607G= (p.Asp2203=)
c.6496G= (p.Asp2166=)
c.6418G= (p.Asp2140=)
c.6070G= (p.Asp2024=)
c.5695G= (p.Asp1899=)
c.6502G= (p.Asp2168=)
c.6604G= (p.Asp2202=)
c.6580G= (p.Asp2194=)
c.6547G= (p.Asp2183=)
c.6523G= (p.Asp2175=)
c.6478G= (p.Asp2160=)
3g.53811272G>TCA353259301CACNA1Dc.6412G>T (p.Asp2138Tyr)
n.1741G>T
n.3351G>T
n.1787G>T
c.6352G>T (p.Asp2118Tyr)
c.6280G>T (p.Asp2094Tyr)
c.2473G>T
c.6307G>T (p.Asp2103Tyr)
n.1724G>T
n.1779G>T
c.6379G>T (p.Asp2127Tyr)
c.5431G>T (p.Asp1811Tyr)
c.6607G>T (p.Asp2203Tyr)
c.6496G>T (p.Asp2166Tyr)
c.6418G>T (p.Asp2140Tyr)
c.6070G>T (p.Asp2024Tyr)
c.5695G>T (p.Asp1899Tyr)
c.6502G>T (p.Asp2168Tyr)
c.6604G>T (p.Asp2202Tyr)
c.6580G>T (p.Asp2194Tyr)
c.6547G>T (p.Asp2183Tyr)
c.6523G>T (p.Asp2175Tyr)
c.6478G>T (p.Asp2160Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811273A>CCA353259303CACNA1Dc.6413A>C (p.Asp2138Ala)
n.1742A>C
n.3352A>C
n.1788A>C
c.6353A>C (p.Asp2118Ala)
c.6281A>C (p.Asp2094Ala)
c.2474A>C
c.6308A>C (p.Asp2103Ala)
n.1725A>C
n.1780A>C
c.6380A>C (p.Asp2127Ala)
c.5432A>C (p.Asp1811Ala)
c.6608A>C (p.Asp2203Ala)
c.6497A>C (p.Asp2166Ala)
c.6419A>C (p.Asp2140Ala)
c.6071A>C (p.Asp2024Ala)
c.5696A>C (p.Asp1899Ala)
c.6503A>C (p.Asp2168Ala)
c.6605A>C (p.Asp2202Ala)
c.6581A>C (p.Asp2194Ala)
c.6548A>C (p.Asp2183Ala)
c.6524A>C (p.Asp2175Ala)
c.6479A>C (p.Asp2160Ala)
3g.53811273A>GCA353259304CACNA1Dc.6413A>G (p.Asp2138Gly)
n.1742A>G
n.3352A>G
n.1788A>G
c.6353A>G (p.Asp2118Gly)
c.6281A>G (p.Asp2094Gly)
c.2474A>G
c.6308A>G (p.Asp2103Gly)
n.1725A>G
n.1780A>G
c.6380A>G (p.Asp2127Gly)
c.5432A>G (p.Asp1811Gly)
c.6608A>G (p.Asp2203Gly)
c.6497A>G (p.Asp2166Gly)
c.6419A>G (p.Asp2140Gly)
c.6071A>G (p.Asp2024Gly)
c.5696A>G (p.Asp1899Gly)
c.6503A>G (p.Asp2168Gly)
c.6605A>G (p.Asp2202Gly)
c.6581A>G (p.Asp2194Gly)
c.6548A>G (p.Asp2183Gly)
c.6524A>G (p.Asp2175Gly)
c.6479A>G (p.Asp2160Gly)
3g.53811273A>TCA353259305CACNA1Dc.6413A>T (p.Asp2138Val)
n.1742A>T
n.3352A>T
n.1788A>T
c.6353A>T (p.Asp2118Val)
c.6281A>T (p.Asp2094Val)
c.2474A>T
c.6308A>T (p.Asp2103Val)
n.1725A>T
n.1780A>T
c.6380A>T (p.Asp2127Val)
c.5432A>T (p.Asp1811Val)
c.6608A>T (p.Asp2203Val)
c.6497A>T (p.Asp2166Val)
c.6419A>T (p.Asp2140Val)
c.6071A>T (p.Asp2024Val)
c.5696A>T (p.Asp1899Val)
c.6503A>T (p.Asp2168Val)
c.6605A>T (p.Asp2202Val)
c.6581A>T (p.Asp2194Val)
c.6548A>T (p.Asp2183Val)
c.6524A>T (p.Asp2175Val)
c.6479A>T (p.Asp2160Val)
3g.53811274T>ACA353259306CACNA1Dc.6414T>A (p.Asp2138Glu)
n.1743T>A
n.3353T>A
n.1789T>A
c.6354T>A (p.Asp2118Glu)
c.6282T>A (p.Asp2094Glu)
c.2475T>A
c.6309T>A (p.Asp2103Glu)
n.1726T>A
n.1781T>A
c.6381T>A (p.Asp2127Glu)
c.5433T>A (p.Asp1811Glu)
c.6609T>A (p.Asp2203Glu)
c.6498T>A (p.Asp2166Glu)
c.6420T>A (p.Asp2140Glu)
c.6072T>A (p.Asp2024Glu)
c.5697T>A (p.Asp1899Glu)
c.6504T>A (p.Asp2168Glu)
c.6606T>A (p.Asp2202Glu)
c.6582T>A (p.Asp2194Glu)
c.6549T>A (p.Asp2183Glu)
c.6525T>A (p.Asp2175Glu)
c.6480T>A (p.Asp2160Glu)
3g.53811274T>CCA433896024CACNA1Dc.6414T>C (p.Asp2138=)
n.1743T>C
n.3353T>C
n.1789T>C
c.6354T>C (p.Asp2118=)
c.6282T>C (p.Asp2094=)
c.2475T>C
c.6309T>C (p.Asp2103=)
n.1726T>C
n.1781T>C
c.6381T>C (p.Asp2127=)
c.5433T>C (p.Asp1811=)
c.6609T>C (p.Asp2203=)
c.6498T>C (p.Asp2166=)
c.6420T>C (p.Asp2140=)
c.6072T>C (p.Asp2024=)
c.5697T>C (p.Asp1899=)
c.6504T>C (p.Asp2168=)
c.6606T>C (p.Asp2202=)
c.6582T>C (p.Asp2194=)
c.6549T>C (p.Asp2183=)
c.6525T>C (p.Asp2175=)
c.6480T>C (p.Asp2160=)
 ClinVar dbSNP
3g.53811274T>GCA353259307CACNA1Dc.6414T>G (p.Asp2138Glu)
n.1743T>G
n.3353T>G
n.1789T>G
c.6354T>G (p.Asp2118Glu)
c.6282T>G (p.Asp2094Glu)
c.2475T>G
c.6309T>G (p.Asp2103Glu)
n.1726T>G
n.1781T>G
c.6381T>G (p.Asp2127Glu)
c.5433T>G (p.Asp1811Glu)
c.6609T>G (p.Asp2203Glu)
c.6498T>G (p.Asp2166Glu)
c.6420T>G (p.Asp2140Glu)
c.6072T>G (p.Asp2024Glu)
c.5697T>G (p.Asp1899Glu)
c.6504T>G (p.Asp2168Glu)
c.6606T>G (p.Asp2202Glu)
c.6582T>G (p.Asp2194Glu)
c.6549T>G (p.Asp2183Glu)
c.6525T>G (p.Asp2175Glu)
c.6480T>G (p.Asp2160Glu)
3g.53811274T=CA1365489020CACNA1Dc.6414T= (p.Asp2138=)
n.1743T=
n.3353T=
n.1789T=
c.6354T= (p.Asp2118=)
c.6282T= (p.Asp2094=)
c.2475T=
c.6309T= (p.Asp2103=)
n.1726T=
n.1781T=
c.6381T= (p.Asp2127=)
c.5433T= (p.Asp1811=)
c.6609T= (p.Asp2203=)
c.6498T= (p.Asp2166=)
c.6420T= (p.Asp2140=)
c.6072T= (p.Asp2024=)
c.5697T= (p.Asp1899=)
c.6504T= (p.Asp2168=)
c.6606T= (p.Asp2202=)
c.6582T= (p.Asp2194=)
c.6549T= (p.Asp2183=)
c.6525T= (p.Asp2175=)
c.6480T= (p.Asp2160=)
3g.53811275G>ACA353259308CACNA1Dc.6415G>A (p.Val2139Met)
n.1744G>A
n.3354G>A
n.1790G>A
c.6355G>A (p.Val2119Met)
c.6283G>A (p.Val2095Met)
c.2476G>A
c.6310G>A (p.Val2104Met)
n.1727G>A
n.1782G>A
c.6382G>A (p.Val2128Met)
c.5434G>A (p.Val1812Met)
c.6610G>A (p.Val2204Met)
c.6499G>A (p.Val2167Met)
c.6421G>A (p.Val2141Met)
c.6073G>A (p.Val2025Met)
c.5698G>A (p.Val1900Met)
c.6505G>A (p.Val2169Met)
c.6607G>A (p.Val2203Met)
c.6583G>A (p.Val2195Met)
c.6550G>A (p.Val2184Met)
c.6526G>A (p.Val2176Met)
c.6481G>A (p.Val2161Met)
 gnomAD v4
3g.53811275G>CCA353259309CACNA1Dc.6415G>C (p.Val2139Leu)
n.1744G>C
n.3354G>C
n.1790G>C
c.6355G>C (p.Val2119Leu)
c.6283G>C (p.Val2095Leu)
c.2476G>C
c.6310G>C (p.Val2104Leu)
n.1727G>C
n.1782G>C
c.6382G>C (p.Val2128Leu)
c.5434G>C (p.Val1812Leu)
c.6610G>C (p.Val2204Leu)
c.6499G>C (p.Val2167Leu)
c.6421G>C (p.Val2141Leu)
c.6073G>C (p.Val2025Leu)
c.5698G>C (p.Val1900Leu)
c.6505G>C (p.Val2169Leu)
c.6607G>C (p.Val2203Leu)
c.6583G>C (p.Val2195Leu)
c.6550G>C (p.Val2184Leu)
c.6526G>C (p.Val2176Leu)
c.6481G>C (p.Val2161Leu)
3g.53811275G>TCA353259310CACNA1Dc.6415G>T (p.Val2139Leu)
n.1744G>T
n.3354G>T
n.1790G>T
c.6355G>T (p.Val2119Leu)
c.6283G>T (p.Val2095Leu)
c.2476G>T
c.6310G>T (p.Val2104Leu)
n.1727G>T
n.1782G>T
c.6382G>T (p.Val2128Leu)
c.5434G>T (p.Val1812Leu)
c.6610G>T (p.Val2204Leu)
c.6499G>T (p.Val2167Leu)
c.6421G>T (p.Val2141Leu)
c.6073G>T (p.Val2025Leu)
c.5698G>T (p.Val1900Leu)
c.6505G>T (p.Val2169Leu)
c.6607G>T (p.Val2203Leu)
c.6583G>T (p.Val2195Leu)
c.6550G>T (p.Val2184Leu)
c.6526G>T (p.Val2176Leu)
c.6481G>T (p.Val2161Leu)
3g.53811276T>ACA353259311CACNA1Dc.6416T>A (p.Val2139Glu)
n.1745T>A
n.3355T>A
n.1791T>A
c.6356T>A (p.Val2119Glu)
c.6284T>A (p.Val2095Glu)
c.2477T>A
c.6311T>A (p.Val2104Glu)
n.1728T>A
n.1783T>A
c.6383T>A (p.Val2128Glu)
c.5435T>A (p.Val1812Glu)
c.6611T>A (p.Val2204Glu)
c.6500T>A (p.Val2167Glu)
c.6422T>A (p.Val2141Glu)
c.6074T>A (p.Val2025Glu)
c.5699T>A (p.Val1900Glu)
c.6506T>A (p.Val2169Glu)
c.6608T>A (p.Val2203Glu)
c.6584T>A (p.Val2195Glu)
c.6551T>A (p.Val2184Glu)
c.6527T>A (p.Val2176Glu)
c.6482T>A (p.Val2161Glu)
3g.53811276T>CCA353259312CACNA1Dc.6416T>C (p.Val2139Ala)
n.1745T>C
n.3355T>C
n.1791T>C
c.6356T>C (p.Val2119Ala)
c.6284T>C (p.Val2095Ala)
c.2477T>C
c.6311T>C (p.Val2104Ala)
n.1728T>C
n.1783T>C
c.6383T>C (p.Val2128Ala)
c.5435T>C (p.Val1812Ala)
c.6611T>C (p.Val2204Ala)
c.6500T>C (p.Val2167Ala)
c.6422T>C (p.Val2141Ala)
c.6074T>C (p.Val2025Ala)
c.5699T>C (p.Val1900Ala)
c.6506T>C (p.Val2169Ala)
c.6608T>C (p.Val2203Ala)
c.6584T>C (p.Val2195Ala)
c.6551T>C (p.Val2184Ala)
c.6527T>C (p.Val2176Ala)
c.6482T>C (p.Val2161Ala)
3g.53811276T>GCA353259313CACNA1Dc.6416T>G (p.Val2139Gly)
n.1745T>G
n.3355T>G
n.1791T>G
c.6356T>G (p.Val2119Gly)
c.6284T>G (p.Val2095Gly)
c.2477T>G
c.6311T>G (p.Val2104Gly)
n.1728T>G
n.1783T>G
c.6383T>G (p.Val2128Gly)
c.5435T>G (p.Val1812Gly)
c.6611T>G (p.Val2204Gly)
c.6500T>G (p.Val2167Gly)
c.6422T>G (p.Val2141Gly)
c.6074T>G (p.Val2025Gly)
c.5699T>G (p.Val1900Gly)
c.6506T>G (p.Val2169Gly)
c.6608T>G (p.Val2203Gly)
c.6584T>G (p.Val2195Gly)
c.6551T>G (p.Val2184Gly)
c.6527T>G (p.Val2176Gly)
c.6482T>G (p.Val2161Gly)
3g.53811277G>ACA433896026CACNA1Dc.6417G>A (p.Val2139=)
n.1746G>A
n.3356G>A
n.1792G>A
c.6357G>A (p.Val2119=)
c.6285G>A (p.Val2095=)
c.2478G>A
c.6312G>A (p.Val2104=)
n.1729G>A
n.1784G>A
c.6384G>A (p.Val2128=)
c.5436G>A (p.Val1812=)
c.6612G>A (p.Val2204=)
c.6501G>A (p.Val2167=)
c.6423G>A (p.Val2141=)
c.6075G>A (p.Val2025=)
c.5700G>A (p.Val1900=)
c.6507G>A (p.Val2169=)
c.6609G>A (p.Val2203=)
c.6585G>A (p.Val2195=)
c.6552G>A (p.Val2184=)
c.6528G>A (p.Val2176=)
c.6483G>A (p.Val2161=)
 gnomAD v4
3g.53811277G>CCA433896027CACNA1Dc.6417G>C (p.Val2139=)
n.1746G>C
n.3356G>C
n.1792G>C
c.6357G>C (p.Val2119=)
c.6285G>C (p.Val2095=)
c.2478G>C
c.6312G>C (p.Val2104=)
n.1729G>C
n.1784G>C
c.6384G>C (p.Val2128=)
c.5436G>C (p.Val1812=)
c.6612G>C (p.Val2204=)
c.6501G>C (p.Val2167=)
c.6423G>C (p.Val2141=)
c.6075G>C (p.Val2025=)
c.5700G>C (p.Val1900=)
c.6507G>C (p.Val2169=)
c.6609G>C (p.Val2203=)
c.6585G>C (p.Val2195=)
c.6552G>C (p.Val2184=)
c.6528G>C (p.Val2176=)
c.6483G>C (p.Val2161=)
 ClinVar
3g.53811277G>TCA433896029CACNA1Dc.6417G>T (p.Val2139=)
n.1746G>T
n.3356G>T
n.1792G>T
c.6357G>T (p.Val2119=)
c.6285G>T (p.Val2095=)
c.2478G>T
c.6312G>T (p.Val2104=)
n.1729G>T
n.1784G>T
c.6384G>T (p.Val2128=)
c.5436G>T (p.Val1812=)
c.6612G>T (p.Val2204=)
c.6501G>T (p.Val2167=)
c.6423G>T (p.Val2141=)
c.6075G>T (p.Val2025=)
c.5700G>T (p.Val1900=)
c.6507G>T (p.Val2169=)
c.6609G>T (p.Val2203=)
c.6585G>T (p.Val2195=)
c.6552G>T (p.Val2184=)
c.6528G>T (p.Val2176=)
c.6483G>T (p.Val2161=)
3g.53811278G>ACA353259316CACNA1Dc.6418G>A (p.Gly2140Ser)
n.1747G>A
n.3357G>A
n.1793G>A
c.6358G>A (p.Gly2120Ser)
c.6286G>A (p.Gly2096Ser)
c.2479G>A
c.6313G>A (p.Gly2105Ser)
n.1730G>A
n.1785G>A
c.6385G>A (p.Gly2129Ser)
c.5437G>A (p.Gly1813Ser)
c.6613G>A (p.Gly2205Ser)
c.6502G>A (p.Gly2168Ser)
c.6424G>A (p.Gly2142Ser)
c.6076G>A (p.Gly2026Ser)
c.5701G>A (p.Gly1901Ser)
c.6508G>A (p.Gly2170Ser)
c.6610G>A (p.Gly2204Ser)
c.6586G>A (p.Gly2196Ser)
c.6553G>A (p.Gly2185Ser)
c.6529G>A (p.Gly2177Ser)
c.6484G>A (p.Gly2162Ser)
3g.53811278G>CCA353259315CACNA1Dc.6418G>C (p.Gly2140Arg)
n.1747G>C
n.3357G>C
n.1793G>C
c.6358G>C (p.Gly2120Arg)
c.6286G>C (p.Gly2096Arg)
c.2479G>C
c.6313G>C (p.Gly2105Arg)
n.1730G>C
n.1785G>C
c.6385G>C (p.Gly2129Arg)
c.5437G>C (p.Gly1813Arg)
c.6613G>C (p.Gly2205Arg)
c.6502G>C (p.Gly2168Arg)
c.6424G>C (p.Gly2142Arg)
c.6076G>C (p.Gly2026Arg)
c.5701G>C (p.Gly1901Arg)
c.6508G>C (p.Gly2170Arg)
c.6610G>C (p.Gly2204Arg)
c.6586G>C (p.Gly2196Arg)
c.6553G>C (p.Gly2185Arg)
c.6529G>C (p.Gly2177Arg)
c.6484G>C (p.Gly2162Arg)
3g.53811278G>TCA353259314CACNA1Dc.6418G>T (p.Gly2140Cys)
n.1747G>T
n.3357G>T
n.1793G>T
c.6358G>T (p.Gly2120Cys)
c.6286G>T (p.Gly2096Cys)
c.2479G>T
c.6313G>T (p.Gly2105Cys)
n.1730G>T
n.1785G>T
c.6385G>T (p.Gly2129Cys)
c.5437G>T (p.Gly1813Cys)
c.6613G>T (p.Gly2205Cys)
c.6502G>T (p.Gly2168Cys)
c.6424G>T (p.Gly2142Cys)
c.6076G>T (p.Gly2026Cys)
c.5701G>T (p.Gly1901Cys)
c.6508G>T (p.Gly2170Cys)
c.6610G>T (p.Gly2204Cys)
c.6586G>T (p.Gly2196Cys)
c.6553G>T (p.Gly2185Cys)
c.6529G>T (p.Gly2177Cys)
c.6484G>T (p.Gly2162Cys)
3g.53811279G>ACA353259317CACNA1Dc.6419G>A (p.Gly2140Asp)
n.1748G>A
n.3358G>A
n.1794G>A
c.6359G>A (p.Gly2120Asp)
c.6287G>A (p.Gly2096Asp)
c.2480G>A
c.6314G>A (p.Gly2105Asp)
n.1731G>A
n.1786G>A
c.6386G>A (p.Gly2129Asp)
c.5438G>A (p.Gly1813Asp)
c.6614G>A (p.Gly2205Asp)
c.6503G>A (p.Gly2168Asp)
c.6425G>A (p.Gly2142Asp)
c.6077G>A (p.Gly2026Asp)
c.5702G>A (p.Gly1901Asp)
c.6509G>A (p.Gly2170Asp)
c.6611G>A (p.Gly2204Asp)
c.6587G>A (p.Gly2196Asp)
c.6554G>A (p.Gly2185Asp)
c.6530G>A (p.Gly2177Asp)
c.6485G>A (p.Gly2162Asp)
 dbSNP
3g.53811279G>CCA353259318CACNA1Dc.6419G>C (p.Gly2140Ala)
n.1748G>C
n.3358G>C
n.1794G>C
c.6359G>C (p.Gly2120Ala)
c.6287G>C (p.Gly2096Ala)
c.2480G>C
c.6314G>C (p.Gly2105Ala)
n.1731G>C
n.1786G>C
c.6386G>C (p.Gly2129Ala)
c.5438G>C (p.Gly1813Ala)
c.6614G>C (p.Gly2205Ala)
c.6503G>C (p.Gly2168Ala)
c.6425G>C (p.Gly2142Ala)
c.6077G>C (p.Gly2026Ala)
c.5702G>C (p.Gly1901Ala)
c.6509G>C (p.Gly2170Ala)
c.6611G>C (p.Gly2204Ala)
c.6587G>C (p.Gly2196Ala)
c.6554G>C (p.Gly2185Ala)
c.6530G>C (p.Gly2177Ala)
c.6485G>C (p.Gly2162Ala)
3g.53811279G=CA1365489021CACNA1Dc.6419G= (p.Gly2140=)
n.1748G=
n.3358G=
n.1794G=
c.6359G= (p.Gly2120=)
c.6287G= (p.Gly2096=)
c.2480G=
c.6314G= (p.Gly2105=)
n.1731G=
n.1786G=
c.6386G= (p.Gly2129=)
c.5438G= (p.Gly1813=)
c.6614G= (p.Gly2205=)
c.6503G= (p.Gly2168=)
c.6425G= (p.Gly2142=)
c.6077G= (p.Gly2026=)
c.5702G= (p.Gly1901=)
c.6509G= (p.Gly2170=)
c.6611G= (p.Gly2204=)
c.6587G= (p.Gly2196=)
c.6554G= (p.Gly2185=)
c.6530G= (p.Gly2177=)
c.6485G= (p.Gly2162=)
3g.53811279G>TCA353259319CACNA1Dc.6419G>T (p.Gly2140Val)
n.1748G>T
n.3358G>T
n.1794G>T
c.6359G>T (p.Gly2120Val)
c.6287G>T (p.Gly2096Val)
c.2480G>T
c.6314G>T (p.Gly2105Val)
n.1731G>T
n.1786G>T
c.6386G>T (p.Gly2129Val)
c.5438G>T (p.Gly1813Val)
c.6614G>T (p.Gly2205Val)
c.6503G>T (p.Gly2168Val)
c.6425G>T (p.Gly2142Val)
c.6077G>T (p.Gly2026Val)
c.5702G>T (p.Gly1901Val)
c.6509G>T (p.Gly2170Val)
c.6611G>T (p.Gly2204Val)
c.6587G>T (p.Gly2196Val)
c.6554G>T (p.Gly2185Val)
c.6530G>T (p.Gly2177Val)
c.6485G>T (p.Gly2162Val)
3g.53811280C>ACA433896034CACNA1Dc.6420C>A (p.Gly2140=)
n.1749C>A
n.3359C>A
n.1795C>A
c.6360C>A (p.Gly2120=)
c.6288C>A (p.Gly2096=)
c.2481C>A
c.6315C>A (p.Gly2105=)
n.1732C>A
n.1787C>A
c.6387C>A (p.Gly2129=)
c.5439C>A (p.Gly1813=)
c.6615C>A (p.Gly2205=)
c.6504C>A (p.Gly2168=)
c.6426C>A (p.Gly2142=)
c.6078C>A (p.Gly2026=)
c.5703C>A (p.Gly1901=)
c.6510C>A (p.Gly2170=)
c.6612C>A (p.Gly2204=)
c.6588C>A (p.Gly2196=)
c.6555C>A (p.Gly2185=)
c.6531C>A (p.Gly2177=)
c.6486C>A (p.Gly2162=)
3g.53811280C=CA1365489022CACNA1Dc.6420C= (p.Gly2140=)
n.1749C=
n.3359C=
n.1795C=
c.6360C= (p.Gly2120=)
c.6288C= (p.Gly2096=)
c.2481C=
c.6315C= (p.Gly2105=)
n.1732C=
n.1787C=
c.6387C= (p.Gly2129=)
c.5439C= (p.Gly1813=)
c.6615C= (p.Gly2205=)
c.6504C= (p.Gly2168=)
c.6426C= (p.Gly2142=)
c.6078C= (p.Gly2026=)
c.5703C= (p.Gly1901=)
c.6510C= (p.Gly2170=)
c.6612C= (p.Gly2204=)
c.6588C= (p.Gly2196=)
c.6555C= (p.Gly2185=)
c.6531C= (p.Gly2177=)
c.6486C= (p.Gly2162=)
3g.53811280C>GCA433896036CACNA1Dc.6420C>G (p.Gly2140=)
n.1749C>G
n.3359C>G
n.1795C>G
c.6360C>G (p.Gly2120=)
c.6288C>G (p.Gly2096=)
c.2481C>G
c.6315C>G (p.Gly2105=)
n.1732C>G
n.1787C>G
c.6387C>G (p.Gly2129=)
c.5439C>G (p.Gly1813=)
c.6615C>G (p.Gly2205=)
c.6504C>G (p.Gly2168=)
c.6426C>G (p.Gly2142=)
c.6078C>G (p.Gly2026=)
c.5703C>G (p.Gly1901=)
c.6510C>G (p.Gly2170=)
c.6612C>G (p.Gly2204=)
c.6588C>G (p.Gly2196=)
c.6555C>G (p.Gly2185=)
c.6531C>G (p.Gly2177=)
c.6486C>G (p.Gly2162=)
3g.53811280C>TCA2455434CACNA1Dc.6420C>T (p.Gly2140=)
n.1749C>T
n.3359C>T
n.1795C>T
c.6360C>T (p.Gly2120=)
c.6288C>T (p.Gly2096=)
c.2481C>T
c.6315C>T (p.Gly2105=)
n.1732C>T
n.1787C>T
c.6387C>T (p.Gly2129=)
c.5439C>T (p.Gly1813=)
c.6615C>T (p.Gly2205=)
c.6504C>T (p.Gly2168=)
c.6426C>T (p.Gly2142=)
c.6078C>T (p.Gly2026=)
c.5703C>T (p.Gly1901=)
c.6510C>T (p.Gly2170=)
c.6612C>T (p.Gly2204=)
c.6588C>T (p.Gly2196=)
c.6555C>T (p.Gly2185=)
c.6531C>T (p.Gly2177=)
c.6486C>T (p.Gly2162=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.53811284dupCA908253639CACNA1Dc.6424dup (p.Leu2142ProfsTer8)
n.1753dup
n.3363dup
n.1799dup
c.6364dup (p.Leu2122ProfsTer8)
c.6292dup (p.Leu2098ProfsTer8)
c.2485dup
c.6319dup (p.Leu2107ProfsTer8)
n.1736dup
n.1791dup
c.6391dup (p.Leu2131ProfsTer8)
c.5443dup (p.Leu1815ProfsTer8)
c.6619dup (p.Leu2207ProfsTer8)
c.6508dup (p.Leu2170ProfsTer8)
c.6430dup (p.Leu2144ProfsTer8)
c.6082dup (p.Leu2028ProfsTer8)
c.5707dup (p.Leu1903ProfsTer8)
c.6514dup (p.Leu2172ProfsTer8)
c.6616dup (p.Leu2206ProfsTer8)
c.6592dup (p.Leu2198ProfsTer8)
c.6559dup (p.Leu2187ProfsTer8)
c.6535dup (p.Leu2179ProfsTer8)
c.6490dup (p.Leu2164ProfsTer8)
 dbSNP
3g.53811281C>ACA353259320CACNA1Dc.6421C>A (p.Pro2141Thr)
n.1750C>A
n.3360C>A
n.1796C>A
c.6361C>A (p.Pro2121Thr)
c.6289C>A (p.Pro2097Thr)
c.2482C>A
c.6316C>A (p.Pro2106Thr)
n.1733C>A
n.1788C>A
c.6388C>A (p.Pro2130Thr)
c.5440C>A (p.Pro1814Thr)
c.6616C>A (p.Pro2206Thr)
c.6505C>A (p.Pro2169Thr)
c.6427C>A (p.Pro2143Thr)
c.6079C>A (p.Pro2027Thr)
c.5704C>A (p.Pro1902Thr)
c.6511C>A (p.Pro2171Thr)
c.6613C>A (p.Pro2205Thr)
c.6589C>A (p.Pro2197Thr)
c.6556C>A (p.Pro2186Thr)
c.6532C>A (p.Pro2178Thr)
c.6487C>A (p.Pro2163Thr)
3g.53811281C=CA1365489023CACNA1Dc.6421C= (p.Pro2141=)
n.1750C=
n.3360C=
n.1796C=
c.6361C= (p.Pro2121=)
c.6289C= (p.Pro2097=)
c.2482C=
c.6316C= (p.Pro2106=)
n.1733C=
n.1788C=
c.6388C= (p.Pro2130=)
c.5440C= (p.Pro1814=)
c.6616C= (p.Pro2206=)
c.6505C= (p.Pro2169=)
c.6427C= (p.Pro2143=)
c.6079C= (p.Pro2027=)
c.5704C= (p.Pro1902=)
c.6511C= (p.Pro2171=)
c.6613C= (p.Pro2205=)
c.6589C= (p.Pro2197=)
c.6556C= (p.Pro2186=)
c.6532C= (p.Pro2178=)
c.6487C= (p.Pro2163=)
3g.53811281C>GCA353259321CACNA1Dc.6421C>G (p.Pro2141Ala)
n.1750C>G
n.3360C>G
n.1796C>G
c.6361C>G (p.Pro2121Ala)
c.6289C>G (p.Pro2097Ala)
c.2482C>G
c.6316C>G (p.Pro2106Ala)
n.1733C>G
n.1788C>G
c.6388C>G (p.Pro2130Ala)
c.5440C>G (p.Pro1814Ala)
c.6616C>G (p.Pro2206Ala)
c.6505C>G (p.Pro2169Ala)
c.6427C>G (p.Pro2143Ala)
c.6079C>G (p.Pro2027Ala)
c.5704C>G (p.Pro1902Ala)
c.6511C>G (p.Pro2171Ala)
c.6613C>G (p.Pro2205Ala)
c.6589C>G (p.Pro2197Ala)
c.6556C>G (p.Pro2186Ala)
c.6532C>G (p.Pro2178Ala)
c.6487C>G (p.Pro2163Ala)
3g.53811281C>TCA2455435CACNA1Dc.6421C>T (p.Pro2141Ser)
n.1750C>T
n.3360C>T
n.1796C>T
c.6361C>T (p.Pro2121Ser)
c.6289C>T (p.Pro2097Ser)
c.2482C>T
c.6316C>T (p.Pro2106Ser)
n.1733C>T
n.1788C>T
c.6388C>T (p.Pro2130Ser)
c.5440C>T (p.Pro1814Ser)
c.6616C>T (p.Pro2206Ser)
c.6505C>T (p.Pro2169Ser)
c.6427C>T (p.Pro2143Ser)
c.6079C>T (p.Pro2027Ser)
c.5704C>T (p.Pro1902Ser)
c.6511C>T (p.Pro2171Ser)
c.6613C>T (p.Pro2205Ser)
c.6589C>T (p.Pro2197Ser)
c.6556C>T (p.Pro2186Ser)
c.6532C>T (p.Pro2178Ser)
c.6487C>T (p.Pro2163Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811281_53811282delinsATCA645530360CACNA1Dc.6421_6422delinsAT (p.Pro2141Ile)
n.1750_1751delinsAT
n.3360_3361delinsAT
n.1796_1797delinsAT
c.6361_6362delinsAT (p.Pro2121Ile)
c.6289_6290delinsAT (p.Pro2097Ile)
c.2482_2483delinsAT
c.6316_6317delinsAT (p.Pro2106Ile)
n.1733_1734delinsAT
n.1788_1789delinsAT
c.6388_6389delinsAT (p.Pro2130Ile)
c.5440_5441delinsAT (p.Pro1814Ile)
c.6616_6617delinsAT (p.Pro2206Ile)
c.6505_6506delinsAT (p.Pro2169Ile)
c.6427_6428delinsAT (p.Pro2143Ile)
c.6079_6080delinsAT (p.Pro2027Ile)
c.5704_5705delinsAT (p.Pro1902Ile)
c.6511_6512delinsAT (p.Pro2171Ile)
c.6613_6614delinsAT (p.Pro2205Ile)
c.6589_6590delinsAT (p.Pro2197Ile)
c.6556_6557delinsAT (p.Pro2186Ile)
c.6532_6533delinsAT (p.Pro2178Ile)
c.6487_6488delinsAT (p.Pro2163Ile)
 COSMIC COSMIC
3g.53811282C>ACA353259322CACNA1Dc.6422C>A (p.Pro2141His)
n.1751C>A
n.3361C>A
n.1797C>A
c.6362C>A (p.Pro2121His)
c.6290C>A (p.Pro2097His)
c.2483C>A
c.6317C>A (p.Pro2106His)
n.1734C>A
n.1789C>A
c.6389C>A (p.Pro2130His)
c.5441C>A (p.Pro1814His)
c.6617C>A (p.Pro2206His)
c.6506C>A (p.Pro2169His)
c.6428C>A (p.Pro2143His)
c.6080C>A (p.Pro2027His)
c.5705C>A (p.Pro1902His)
c.6512C>A (p.Pro2171His)
c.6614C>A (p.Pro2205His)
c.6590C>A (p.Pro2197His)
c.6557C>A (p.Pro2186His)
c.6533C>A (p.Pro2178His)
c.6488C>A (p.Pro2163His)
 gnomAD v4
3g.53811282C>GCA353259323CACNA1Dc.6422C>G (p.Pro2141Arg)
n.1751C>G
n.3361C>G
n.1797C>G
c.6362C>G (p.Pro2121Arg)
c.6290C>G (p.Pro2097Arg)
c.2483C>G
c.6317C>G (p.Pro2106Arg)
n.1734C>G
n.1789C>G
c.6389C>G (p.Pro2130Arg)
c.5441C>G (p.Pro1814Arg)
c.6617C>G (p.Pro2206Arg)
c.6506C>G (p.Pro2169Arg)
c.6428C>G (p.Pro2143Arg)
c.6080C>G (p.Pro2027Arg)
c.5705C>G (p.Pro1902Arg)
c.6512C>G (p.Pro2171Arg)
c.6614C>G (p.Pro2205Arg)
c.6590C>G (p.Pro2197Arg)
c.6557C>G (p.Pro2186Arg)
c.6533C>G (p.Pro2178Arg)
c.6488C>G (p.Pro2163Arg)
3g.53811282C>TCA353259325CACNA1Dc.6422C>T (p.Pro2141Leu)
n.1751C>T
n.3361C>T
n.1797C>T
c.6362C>T (p.Pro2121Leu)
c.6290C>T (p.Pro2097Leu)
c.2483C>T
c.6317C>T (p.Pro2106Leu)
n.1734C>T
n.1789C>T
c.6389C>T (p.Pro2130Leu)
c.5441C>T (p.Pro1814Leu)
c.6617C>T (p.Pro2206Leu)
c.6506C>T (p.Pro2169Leu)
c.6428C>T (p.Pro2143Leu)
c.6080C>T (p.Pro2027Leu)
c.5705C>T (p.Pro1902Leu)
c.6512C>T (p.Pro2171Leu)
c.6614C>T (p.Pro2205Leu)
c.6590C>T (p.Pro2197Leu)
c.6557C>T (p.Pro2186Leu)
c.6533C>T (p.Pro2178Leu)
c.6488C>T (p.Pro2163Leu)
 gnomAD v4
3g.53811283C>ACA433896043CACNA1Dc.6423C>A (p.Pro2141=)
n.1752C>A
n.3362C>A
n.1798C>A
c.6363C>A (p.Pro2121=)
c.6291C>A (p.Pro2097=)
c.2484C>A
c.6318C>A (p.Pro2106=)
n.1735C>A
n.1790C>A
c.6390C>A (p.Pro2130=)
c.5442C>A (p.Pro1814=)
c.6618C>A (p.Pro2206=)
c.6507C>A (p.Pro2169=)
c.6429C>A (p.Pro2143=)
c.6081C>A (p.Pro2027=)
c.5706C>A (p.Pro1902=)
c.6513C>A (p.Pro2171=)
c.6615C>A (p.Pro2205=)
c.6591C>A (p.Pro2197=)
c.6558C>A (p.Pro2186=)
c.6534C>A (p.Pro2178=)
c.6489C>A (p.Pro2163=)
3g.53811283C>GCA433896044CACNA1Dc.6423C>G (p.Pro2141=)
n.1752C>G
n.3362C>G
n.1798C>G
c.6363C>G (p.Pro2121=)
c.6291C>G (p.Pro2097=)
c.2484C>G
c.6318C>G (p.Pro2106=)
n.1735C>G
n.1790C>G
c.6390C>G (p.Pro2130=)
c.5442C>G (p.Pro1814=)
c.6618C>G (p.Pro2206=)
c.6507C>G (p.Pro2169=)
c.6429C>G (p.Pro2143=)
c.6081C>G (p.Pro2027=)
c.5706C>G (p.Pro1902=)
c.6513C>G (p.Pro2171=)
c.6615C>G (p.Pro2205=)
c.6591C>G (p.Pro2197=)
c.6558C>G (p.Pro2186=)
c.6534C>G (p.Pro2178=)
c.6489C>G (p.Pro2163=)
3g.53811283C>TCA433896045CACNA1Dc.6423C>T (p.Pro2141=)
n.1752C>T
n.3362C>T
n.1798C>T
c.6363C>T (p.Pro2121=)
c.6291C>T (p.Pro2097=)
c.2484C>T
c.6318C>T (p.Pro2106=)
n.1735C>T
n.1790C>T
c.6390C>T (p.Pro2130=)
c.5442C>T (p.Pro1814=)
c.6618C>T (p.Pro2206=)
c.6507C>T (p.Pro2169=)
c.6429C>T (p.Pro2143=)
c.6081C>T (p.Pro2027=)
c.5706C>T (p.Pro1902=)
c.6513C>T (p.Pro2171=)
c.6615C>T (p.Pro2205=)
c.6591C>T (p.Pro2197=)
c.6558C>T (p.Pro2186=)
c.6534C>T (p.Pro2178=)
c.6489C>T (p.Pro2163=)
 gnomAD v4 COSMIC COSMIC
3g.53811284C>ACA353259328CACNA1Dc.6424C>A (p.Leu2142Ile)
n.1753C>A
n.3363C>A
n.1799C>A
c.6364C>A (p.Leu2122Ile)
c.6292C>A (p.Leu2098Ile)
c.2485C>A
c.6319C>A (p.Leu2107Ile)
n.1736C>A
n.1791C>A
c.6391C>A (p.Leu2131Ile)
c.5443C>A (p.Leu1815Ile)
c.6619C>A (p.Leu2207Ile)
c.6508C>A (p.Leu2170Ile)
c.6430C>A (p.Leu2144Ile)
c.6082C>A (p.Leu2028Ile)
c.5707C>A (p.Leu1903Ile)
c.6514C>A (p.Leu2172Ile)
c.6616C>A (p.Leu2206Ile)
c.6592C>A (p.Leu2198Ile)
c.6559C>A (p.Leu2187Ile)
c.6535C>A (p.Leu2179Ile)
c.6490C>A (p.Leu2164Ile)
3g.53811284C>GCA353259330CACNA1Dc.6424C>G (p.Leu2142Val)
n.1753C>G
n.3363C>G
n.1799C>G
c.6364C>G (p.Leu2122Val)
c.6292C>G (p.Leu2098Val)
c.2485C>G
c.6319C>G (p.Leu2107Val)
n.1736C>G
n.1791C>G
c.6391C>G (p.Leu2131Val)
c.5443C>G (p.Leu1815Val)
c.6619C>G (p.Leu2207Val)
c.6508C>G (p.Leu2170Val)
c.6430C>G (p.Leu2144Val)
c.6082C>G (p.Leu2028Val)
c.5707C>G (p.Leu1903Val)
c.6514C>G (p.Leu2172Val)
c.6616C>G (p.Leu2206Val)
c.6592C>G (p.Leu2198Val)
c.6559C>G (p.Leu2187Val)
c.6535C>G (p.Leu2179Val)
c.6490C>G (p.Leu2164Val)
 gnomAD v4
3g.53811284C>TCA353259332CACNA1Dc.6424C>T (p.Leu2142Phe)
n.1753C>T
n.3363C>T
n.1799C>T
c.6364C>T (p.Leu2122Phe)
c.6292C>T (p.Leu2098Phe)
c.2485C>T
c.6319C>T (p.Leu2107Phe)
n.1736C>T
n.1791C>T
c.6391C>T (p.Leu2131Phe)
c.5443C>T (p.Leu1815Phe)
c.6619C>T (p.Leu2207Phe)
c.6508C>T (p.Leu2170Phe)
c.6430C>T (p.Leu2144Phe)
c.6082C>T (p.Leu2028Phe)
c.5707C>T (p.Leu1903Phe)
c.6514C>T (p.Leu2172Phe)
c.6616C>T (p.Leu2206Phe)
c.6592C>T (p.Leu2198Phe)
c.6559C>T (p.Leu2187Phe)
c.6535C>T (p.Leu2179Phe)
c.6490C>T (p.Leu2164Phe)
 gnomAD v4
3g.53811285T>ACA2455436CACNA1Dc.6425T>A (p.Leu2142His)
n.1754T>A
n.3364T>A
n.1800T>A
c.6365T>A (p.Leu2122His)
c.6293T>A (p.Leu2098His)
c.2486T>A
c.6320T>A (p.Leu2107His)
n.1737T>A
n.1792T>A
c.6392T>A (p.Leu2131His)
c.5444T>A (p.Leu1815His)
c.6620T>A (p.Leu2207His)
c.6509T>A (p.Leu2170His)
c.6431T>A (p.Leu2144His)
c.6083T>A (p.Leu2028His)
c.5708T>A (p.Leu1903His)
c.6515T>A (p.Leu2172His)
c.6617T>A (p.Leu2206His)
c.6593T>A (p.Leu2198His)
c.6560T>A (p.Leu2187His)
c.6536T>A (p.Leu2179His)
c.6491T>A (p.Leu2164His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.53811285T>CCA353259336CACNA1Dc.6425T>C (p.Leu2142Pro)
n.1754T>C
n.3364T>C
n.1800T>C
c.6365T>C (p.Leu2122Pro)
c.6293T>C (p.Leu2098Pro)
c.2486T>C
c.6320T>C (p.Leu2107Pro)
n.1737T>C
n.1792T>C
c.6392T>C (p.Leu2131Pro)
c.5444T>C (p.Leu1815Pro)
c.6620T>C (p.Leu2207Pro)
c.6509T>C (p.Leu2170Pro)
c.6431T>C (p.Leu2144Pro)
c.6083T>C (p.Leu2028Pro)
c.5708T>C (p.Leu1903Pro)
c.6515T>C (p.Leu2172Pro)
c.6617T>C (p.Leu2206Pro)
c.6593T>C (p.Leu2198Pro)
c.6560T>C (p.Leu2187Pro)
c.6536T>C (p.Leu2179Pro)
c.6491T>C (p.Leu2164Pro)
3g.53811285T>GCA353259338CACNA1Dc.6425T>G (p.Leu2142Arg)
n.1754T>G
n.3364T>G
n.1800T>G
c.6365T>G (p.Leu2122Arg)
c.6293T>G (p.Leu2098Arg)
c.2486T>G
c.6320T>G (p.Leu2107Arg)
n.1737T>G
n.1792T>G
c.6392T>G (p.Leu2131Arg)
c.5444T>G (p.Leu1815Arg)
c.6620T>G (p.Leu2207Arg)
c.6509T>G (p.Leu2170Arg)
c.6431T>G (p.Leu2144Arg)
c.6083T>G (p.Leu2028Arg)
c.5708T>G (p.Leu1903Arg)
c.6515T>G (p.Leu2172Arg)
c.6617T>G (p.Leu2206Arg)
c.6593T>G (p.Leu2198Arg)
c.6560T>G (p.Leu2187Arg)
c.6536T>G (p.Leu2179Arg)
c.6491T>G (p.Leu2164Arg)
3g.53811285T=CA1365489024CACNA1Dc.6425T= (p.Leu2142=)
n.1754T=
n.3364T=
n.1800T=
c.6365T= (p.Leu2122=)
c.6293T= (p.Leu2098=)
c.2486T=
c.6320T= (p.Leu2107=)
n.1737T=
n.1792T=
c.6392T= (p.Leu2131=)
c.5444T= (p.Leu1815=)
c.6620T= (p.Leu2207=)
c.6509T= (p.Leu2170=)
c.6431T= (p.Leu2144=)
c.6083T= (p.Leu2028=)
c.5708T= (p.Leu1903=)
c.6515T= (p.Leu2172=)
c.6617T= (p.Leu2206=)
c.6593T= (p.Leu2198=)
c.6560T= (p.Leu2187=)
c.6536T= (p.Leu2179=)
c.6491T= (p.Leu2164=)
3g.53811286C>ACA433896050CACNA1Dc.6426C>A (p.Leu2142=)
n.1755C>A
n.3365C>A
n.1801C>A
c.6366C>A (p.Leu2122=)
c.6294C>A (p.Leu2098=)
c.2487C>A
c.6321C>A (p.Leu2107=)
n.1738C>A
n.1793C>A
c.6393C>A (p.Leu2131=)
c.5445C>A (p.Leu1815=)
c.6621C>A (p.Leu2207=)
c.6510C>A (p.Leu2170=)
c.6432C>A (p.Leu2144=)
c.6084C>A (p.Leu2028=)
c.5709C>A (p.Leu1903=)
c.6516C>A (p.Leu2172=)
c.6618C>A (p.Leu2206=)
c.6594C>A (p.Leu2198=)
c.6561C>A (p.Leu2187=)
c.6537C>A (p.Leu2179=)
c.6492C>A (p.Leu2164=)
3g.53811286C=CA1365489025CACNA1Dc.6426C= (p.Leu2142=)
n.1755C=
n.3365C=
n.1801C=
c.6366C= (p.Leu2122=)
c.6294C= (p.Leu2098=)
c.2487C=
c.6321C= (p.Leu2107=)
n.1738C=
n.1793C=
c.6393C= (p.Leu2131=)
c.5445C= (p.Leu1815=)
c.6621C= (p.Leu2207=)
c.6510C= (p.Leu2170=)
c.6432C= (p.Leu2144=)
c.6084C= (p.Leu2028=)
c.5709C= (p.Leu1903=)
c.6516C= (p.Leu2172=)
c.6618C= (p.Leu2206=)
c.6594C= (p.Leu2198=)
c.6561C= (p.Leu2187=)
c.6537C= (p.Leu2179=)
c.6492C= (p.Leu2164=)
3g.53811286C>GCA433896052CACNA1Dc.6426C>G (p.Leu2142=)
n.1755C>G
n.3365C>G
n.1801C>G
c.6366C>G (p.Leu2122=)
c.6294C>G (p.Leu2098=)
c.2487C>G
c.6321C>G (p.Leu2107=)
n.1738C>G
n.1793C>G
c.6393C>G (p.Leu2131=)
c.5445C>G (p.Leu1815=)
c.6621C>G (p.Leu2207=)
c.6510C>G (p.Leu2170=)
c.6432C>G (p.Leu2144=)
c.6084C>G (p.Leu2028=)
c.5709C>G (p.Leu1903=)
c.6516C>G (p.Leu2172=)
c.6618C>G (p.Leu2206=)
c.6594C>G (p.Leu2198=)
c.6561C>G (p.Leu2187=)
c.6537C>G (p.Leu2179=)
c.6492C>G (p.Leu2164=)
3g.53811286C>TCA74870201CACNA1Dc.6426C>T (p.Leu2142=)
n.1755C>T
n.3365C>T
n.1801C>T
c.6366C>T (p.Leu2122=)
c.6294C>T (p.Leu2098=)
c.2487C>T
c.6321C>T (p.Leu2107=)
n.1738C>T
n.1793C>T
c.6393C>T (p.Leu2131=)
c.5445C>T (p.Leu1815=)
c.6621C>T (p.Leu2207=)
c.6510C>T (p.Leu2170=)
c.6432C>T (p.Leu2144=)
c.6084C>T (p.Leu2028=)
c.5709C>T (p.Leu1903=)
c.6516C>T (p.Leu2172=)
c.6618C>T (p.Leu2206=)
c.6594C>T (p.Leu2198=)
c.6561C>T (p.Leu2187=)
c.6537C>T (p.Leu2179=)
c.6492C>T (p.Leu2164=)
 dbSNP gnomAD v2 gnomAD v4
3g.53811287T>ACA353259342CACNA1Dc.6427T>A (p.Ser2143Thr)
n.1756T>A
n.3366T>A
n.1802T>A
c.6367T>A (p.Ser2123Thr)
c.6295T>A (p.Ser2099Thr)
c.2488T>A
c.6322T>A (p.Ser2108Thr)
n.1739T>A
n.1794T>A
c.6394T>A (p.Ser2132Thr)
c.5446T>A (p.Ser1816Thr)
c.6622T>A (p.Ser2208Thr)
c.6511T>A (p.Ser2171Thr)
c.6433T>A (p.Ser2145Thr)
c.6085T>A (p.Ser2029Thr)
c.5710T>A (p.Ser1904Thr)
c.6517T>A (p.Ser2173Thr)
c.6619T>A (p.Ser2207Thr)
c.6595T>A (p.Ser2199Thr)
c.6562T>A (p.Ser2188Thr)
c.6538T>A (p.Ser2180Thr)
c.6493T>A (p.Ser2165Thr)
3g.53811287T>CCA353259344CACNA1Dc.6427T>C (p.Ser2143Pro)
n.1756T>C
n.3366T>C
n.1802T>C
c.6367T>C (p.Ser2123Pro)
c.6295T>C (p.Ser2099Pro)
c.2488T>C
c.6322T>C (p.Ser2108Pro)
n.1739T>C
n.1794T>C
c.6394T>C (p.Ser2132Pro)
c.5446T>C (p.Ser1816Pro)
c.6622T>C (p.Ser2208Pro)
c.6511T>C (p.Ser2171Pro)
c.6433T>C (p.Ser2145Pro)
c.6085T>C (p.Ser2029Pro)
c.5710T>C (p.Ser1904Pro)
c.6517T>C (p.Ser2173Pro)
c.6619T>C (p.Ser2207Pro)
c.6595T>C (p.Ser2199Pro)
c.6562T>C (p.Ser2188Pro)
c.6538T>C (p.Ser2180Pro)
c.6493T>C (p.Ser2165Pro)
3g.53811287T>GCA353259346CACNA1Dc.6427T>G (p.Ser2143Ala)
n.1756T>G
n.3366T>G
n.1802T>G
c.6367T>G (p.Ser2123Ala)
c.6295T>G (p.Ser2099Ala)
c.2488T>G
c.6322T>G (p.Ser2108Ala)
n.1739T>G
n.1794T>G
c.6394T>G (p.Ser2132Ala)
c.5446T>G (p.Ser1816Ala)
c.6622T>G (p.Ser2208Ala)
c.6511T>G (p.Ser2171Ala)
c.6433T>G (p.Ser2145Ala)
c.6085T>G (p.Ser2029Ala)
c.5710T>G (p.Ser1904Ala)
c.6517T>G (p.Ser2173Ala)
c.6619T>G (p.Ser2207Ala)
c.6595T>G (p.Ser2199Ala)
c.6562T>G (p.Ser2188Ala)
c.6538T>G (p.Ser2180Ala)
c.6493T>G (p.Ser2165Ala)
3g.53811288C>ACA353259347CACNA1Dc.6428C>A (p.Ser2143Ter)
n.1757C>A
n.3367C>A
n.1803C>A
c.6368C>A (p.Ser2123Ter)
c.6296C>A (p.Ser2099Ter)
c.2489C>A
c.6323C>A (p.Ser2108Ter)
n.1740C>A
n.1795C>A
c.6395C>A (p.Ser2132Ter)
c.5447C>A (p.Ser1816Ter)
c.6623C>A (p.Ser2208Ter)
c.6512C>A (p.Ser2171Ter)
c.6434C>A (p.Ser2145Ter)
c.6086C>A (p.Ser2029Ter)
c.5711C>A (p.Ser1904Ter)
c.6518C>A (p.Ser2173Ter)
c.6620C>A (p.Ser2207Ter)
c.6596C>A (p.Ser2199Ter)
c.6563C>A (p.Ser2188Ter)
c.6539C>A (p.Ser2180Ter)
c.6494C>A (p.Ser2165Ter)
3g.53811288C>GCA353259348CACNA1Dc.6428C>G (p.Ser2143Ter)
n.1757C>G
n.3367C>G
n.1803C>G
c.6368C>G (p.Ser2123Ter)
c.6296C>G (p.Ser2099Ter)
c.2489C>G
c.6323C>G (p.Ser2108Ter)
n.1740C>G
n.1795C>G
c.6395C>G (p.Ser2132Ter)
c.5447C>G (p.Ser1816Ter)
c.6623C>G (p.Ser2208Ter)
c.6512C>G (p.Ser2171Ter)
c.6434C>G (p.Ser2145Ter)
c.6086C>G (p.Ser2029Ter)
c.5711C>G (p.Ser1904Ter)
c.6518C>G (p.Ser2173Ter)
c.6620C>G (p.Ser2207Ter)
c.6596C>G (p.Ser2199Ter)
c.6563C>G (p.Ser2188Ter)
c.6539C>G (p.Ser2180Ter)
c.6494C>G (p.Ser2165Ter)
3g.53811288C>TCA353259349CACNA1Dc.6428C>T (p.Ser2143Leu)
n.1757C>T
n.3367C>T
n.1803C>T
c.6368C>T (p.Ser2123Leu)
c.6296C>T (p.Ser2099Leu)
c.2489C>T
c.6323C>T (p.Ser2108Leu)
n.1740C>T
n.1795C>T
c.6395C>T (p.Ser2132Leu)
c.5447C>T (p.Ser1816Leu)
c.6623C>T (p.Ser2208Leu)
c.6512C>T (p.Ser2171Leu)
c.6434C>T (p.Ser2145Leu)
c.6086C>T (p.Ser2029Leu)
c.5711C>T (p.Ser1904Leu)
c.6518C>T (p.Ser2173Leu)
c.6620C>T (p.Ser2207Leu)
c.6596C>T (p.Ser2199Leu)
c.6563C>T (p.Ser2188Leu)
c.6539C>T (p.Ser2180Leu)
c.6494C>T (p.Ser2165Leu)
 COSMIC COSMIC
3g.53811289A>CCA433896056CACNA1Dc.6429A>C (p.Ser2143=)
n.1758A>C
n.3368A>C
n.1804A>C
c.6369A>C (p.Ser2123=)
c.6297A>C (p.Ser2099=)
c.2490A>C
c.6324A>C (p.Ser2108=)
n.1741A>C
n.1796A>C
c.6396A>C (p.Ser2132=)
c.5448A>C (p.Ser1816=)
c.6624A>C (p.Ser2208=)
c.6513A>C (p.Ser2171=)
c.6435A>C (p.Ser2145=)
c.6087A>C (p.Ser2029=)
c.5712A>C (p.Ser1904=)
c.6519A>C (p.Ser2173=)
c.6621A>C (p.Ser2207=)
c.6597A>C (p.Ser2199=)
c.6564A>C (p.Ser2188=)
c.6540A>C (p.Ser2180=)
c.6495A>C (p.Ser2165=)
3g.53811289A>GCA433896058CACNA1Dc.6429A>G (p.Ser2143=)
n.1758A>G
n.3368A>G
n.1804A>G
c.6369A>G (p.Ser2123=)
c.6297A>G (p.Ser2099=)
c.2490A>G
c.6324A>G (p.Ser2108=)
n.1741A>G
n.1796A>G
c.6396A>G (p.Ser2132=)
c.5448A>G (p.Ser1816=)
c.6624A>G (p.Ser2208=)
c.6513A>G (p.Ser2171=)
c.6435A>G (p.Ser2145=)
c.6087A>G (p.Ser2029=)
c.5712A>G (p.Ser1904=)
c.6519A>G (p.Ser2173=)
c.6621A>G (p.Ser2207=)
c.6597A>G (p.Ser2199=)
c.6564A>G (p.Ser2188=)
c.6540A>G (p.Ser2180=)
c.6495A>G (p.Ser2165=)
3g.53811289A>TCA433896061CACNA1Dc.6429A>T (p.Ser2143=)
n.1758A>T
n.3368A>T
n.1804A>T
c.6369A>T (p.Ser2123=)
c.6297A>T (p.Ser2099=)
c.2490A>T
c.6324A>T (p.Ser2108=)
n.1741A>T
n.1796A>T
c.6396A>T (p.Ser2132=)
c.5448A>T (p.Ser1816=)
c.6624A>T (p.Ser2208=)
c.6513A>T (p.Ser2171=)
c.6435A>T (p.Ser2145=)
c.6087A>T (p.Ser2029=)
c.5712A>T (p.Ser1904=)
c.6519A>T (p.Ser2173=)
c.6621A>T (p.Ser2207=)
c.6597A>T (p.Ser2199=)
c.6564A>T (p.Ser2188=)
c.6540A>T (p.Ser2180=)
c.6495A>T (p.Ser2165=)
3g.53811290C>ACA353259350CACNA1Dc.6430C>A (p.His2144Asn)
n.1759C>A
n.3369C>A
n.1805C>A
c.6370C>A (p.His2124Asn)
c.6298C>A (p.His2100Asn)
c.2491C>A
c.6325C>A (p.His2109Asn)
n.1742C>A
n.1797C>A
c.6397C>A (p.His2133Asn)
c.5449C>A (p.His1817Asn)
c.6625C>A (p.His2209Asn)
c.6514C>A (p.His2172Asn)
c.6436C>A (p.His2146Asn)
c.6088C>A (p.His2030Asn)
c.5713C>A (p.His1905Asn)
c.6520C>A (p.His2174Asn)
c.6622C>A (p.His2208Asn)
c.6598C>A (p.His2200Asn)
c.6565C>A (p.His2189Asn)
c.6541C>A (p.His2181Asn)
c.6496C>A (p.His2166Asn)
 dbSNP
3g.53811290C>GCA353259351CACNA1Dc.6430C>G (p.His2144Asp)
n.1759C>G
n.3369C>G
n.1805C>G
c.6370C>G (p.His2124Asp)
c.6298C>G (p.His2100Asp)
c.2491C>G
c.6325C>G (p.His2109Asp)
n.1742C>G
n.1797C>G
c.6397C>G (p.His2133Asp)
c.5449C>G (p.His1817Asp)
c.6625C>G (p.His2209Asp)
c.6514C>G (p.His2172Asp)
c.6436C>G (p.His2146Asp)
c.6088C>G (p.His2030Asp)
c.5713C>G (p.His1905Asp)
c.6520C>G (p.His2174Asp)
c.6622C>G (p.His2208Asp)
c.6598C>G (p.His2200Asp)
c.6565C>G (p.His2189Asp)
c.6541C>G (p.His2181Asp)
c.6496C>G (p.His2166Asp)
3g.53811290C>TCA353259352CACNA1Dc.6430C>T (p.His2144Tyr)
n.1759C>T
n.3369C>T
n.1805C>T
c.6370C>T (p.His2124Tyr)
c.6298C>T (p.His2100Tyr)
c.2491C>T
c.6325C>T (p.His2109Tyr)
n.1742C>T
n.1797C>T
c.6397C>T (p.His2133Tyr)
c.5449C>T (p.His1817Tyr)
c.6625C>T (p.His2209Tyr)
c.6514C>T (p.His2172Tyr)
c.6436C>T (p.His2146Tyr)
c.6088C>T (p.His2030Tyr)
c.5713C>T (p.His1905Tyr)
c.6520C>T (p.His2174Tyr)
c.6622C>T (p.His2208Tyr)
c.6598C>T (p.His2200Tyr)
c.6565C>T (p.His2189Tyr)
c.6541C>T (p.His2181Tyr)
c.6496C>T (p.His2166Tyr)
3g.53811291A>CCA353259353CACNA1Dc.6431A>C (p.His2144Pro)
n.1760A>C
n.3370A>C
n.1806A>C
c.6371A>C (p.His2124Pro)
c.6299A>C (p.His2100Pro)
c.2492A>C
c.6326A>C (p.His2109Pro)
n.1743A>C
n.1798A>C
c.6398A>C (p.His2133Pro)
c.5450A>C (p.His1817Pro)
c.6626A>C (p.His2209Pro)
c.6515A>C (p.His2172Pro)
c.6437A>C (p.His2146Pro)
c.6089A>C (p.His2030Pro)
c.5714A>C (p.His1905Pro)
c.6521A>C (p.His2174Pro)
c.6623A>C (p.His2208Pro)
c.6599A>C (p.His2200Pro)
c.6566A>C (p.His2189Pro)
c.6542A>C (p.His2181Pro)
c.6497A>C (p.His2166Pro)
3g.53811291A>GCA353259354CACNA1Dc.6431A>G (p.His2144Arg)
n.1760A>G
n.3370A>G
n.1806A>G
c.6371A>G (p.His2124Arg)
c.6299A>G (p.His2100Arg)
c.2492A>G
c.6326A>G (p.His2109Arg)
n.1743A>G
n.1798A>G
c.6398A>G (p.His2133Arg)
c.5450A>G (p.His1817Arg)
c.6626A>G (p.His2209Arg)
c.6515A>G (p.His2172Arg)
c.6437A>G (p.His2146Arg)
c.6089A>G (p.His2030Arg)
c.5714A>G (p.His1905Arg)
c.6521A>G (p.His2174Arg)
c.6623A>G (p.His2208Arg)
c.6599A>G (p.His2200Arg)
c.6566A>G (p.His2189Arg)
c.6542A>G (p.His2181Arg)
c.6497A>G (p.His2166Arg)
 ClinVar gnomAD v4
3g.53811291A>TCA353259355CACNA1Dc.6431A>T (p.His2144Leu)
n.1760A>T
n.3370A>T
n.1806A>T
c.6371A>T (p.His2124Leu)
c.6299A>T (p.His2100Leu)
c.2492A>T
c.6326A>T (p.His2109Leu)
n.1743A>T
n.1798A>T
c.6398A>T (p.His2133Leu)
c.5450A>T (p.His1817Leu)
c.6626A>T (p.His2209Leu)
c.6515A>T (p.His2172Leu)
c.6437A>T (p.His2146Leu)
c.6089A>T (p.His2030Leu)
c.5714A>T (p.His1905Leu)
c.6521A>T (p.His2174Leu)
c.6623A>T (p.His2208Leu)
c.6599A>T (p.His2200Leu)
c.6566A>T (p.His2189Leu)
c.6542A>T (p.His2181Leu)
c.6497A>T (p.His2166Leu)
3g.53811292C>ACA353259356CACNA1Dc.6432C>A (p.His2144Gln)
n.1761C>A
n.3371C>A
n.1807C>A
c.6372C>A (p.His2124Gln)
c.6300C>A (p.His2100Gln)
c.2493C>A
c.6327C>A (p.His2109Gln)
n.1744C>A
n.1799C>A
c.6399C>A (p.His2133Gln)
c.5451C>A (p.His1817Gln)
c.6627C>A (p.His2209Gln)
c.6516C>A (p.His2172Gln)
c.6438C>A (p.His2146Gln)
c.6090C>A (p.His2030Gln)
c.5715C>A (p.His1905Gln)
c.6522C>A (p.His2174Gln)
c.6624C>A (p.His2208Gln)
c.6600C>A (p.His2200Gln)
c.6567C>A (p.His2189Gln)
c.6543C>A (p.His2181Gln)
c.6498C>A (p.His2166Gln)
3g.53811292C=CA1365489026CACNA1Dc.6432C= (p.His2144=)
n.1761C=
n.3371C=
n.1807C=
c.6372C= (p.His2124=)
c.6300C= (p.His2100=)
c.2493C=
c.6327C= (p.His2109=)
n.1744C=
n.1799C=
c.6399C= (p.His2133=)
c.5451C= (p.His1817=)
c.6627C= (p.His2209=)
c.6516C= (p.His2172=)
c.6438C= (p.His2146=)
c.6090C= (p.His2030=)
c.5715C= (p.His1905=)
c.6522C= (p.His2174=)
c.6624C= (p.His2208=)
c.6600C= (p.His2200=)
c.6567C= (p.His2189=)
c.6543C= (p.His2181=)
c.6498C= (p.His2166=)
3g.53811292C>GCA353259357CACNA1Dc.6432C>G (p.His2144Gln)
n.1761C>G
n.3371C>G
n.1807C>G
c.6372C>G (p.His2124Gln)
c.6300C>G (p.His2100Gln)
c.2493C>G
c.6327C>G (p.His2109Gln)
n.1744C>G
n.1799C>G
c.6399C>G (p.His2133Gln)
c.5451C>G (p.His1817Gln)
c.6627C>G (p.His2209Gln)
c.6516C>G (p.His2172Gln)
c.6438C>G (p.His2146Gln)
c.6090C>G (p.His2030Gln)
c.5715C>G (p.His1905Gln)
c.6522C>G (p.His2174Gln)
c.6624C>G (p.His2208Gln)
c.6600C>G (p.His2200Gln)
c.6567C>G (p.His2189Gln)
c.6543C>G (p.His2181Gln)
c.6498C>G (p.His2166Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53811292C>TCA433896066CACNA1Dc.6432C>T (p.His2144=)
n.1761C>T
n.3371C>T
n.1807C>T
c.6372C>T (p.His2124=)
c.6300C>T (p.His2100=)
c.2493C>T
c.6327C>T (p.His2109=)
n.1744C>T
n.1799C>T
c.6399C>T (p.His2133=)
c.5451C>T (p.His1817=)
c.6627C>T (p.His2209=)
c.6516C>T (p.His2172=)
c.6438C>T (p.His2146=)
c.6090C>T (p.His2030=)
c.5715C>T (p.His1905=)
c.6522C>T (p.His2174=)
c.6624C>T (p.His2208=)
c.6600C>T (p.His2200=)
c.6567C>T (p.His2189=)
c.6543C>T (p.His2181=)
c.6498C>T (p.His2166=)
3g.53811293C>ACA433896067CACNA1Dc.6433C>A (p.Arg2145=)
n.1762C>A
n.3372C>A
n.1808C>A
c.6373C>A (p.Arg2125=)
c.6301C>A (p.Arg2101=)
c.2494C>A
c.6328C>A (p.Arg2110=)
n.1745C>A
n.1800C>A
c.6400C>A (p.Arg2134=)
c.5452C>A (p.Arg1818=)
c.6628C>A (p.Arg2210=)
c.6517C>A (p.Arg2173=)
c.6439C>A (p.Arg2147=)
c.6091C>A (p.Arg2031=)
c.5716C>A (p.Arg1906=)
c.6523C>A (p.Arg2175=)
c.6625C>A (p.Arg2209=)
c.6601C>A (p.Arg2201=)
c.6568C>A (p.Arg2190=)
c.6544C>A (p.Arg2182=)
c.6499C>A (p.Arg2167=)
3g.53811293C=CA1365489027CACNA1Dc.6433C= (p.Arg2145=)
n.1762C=
n.3372C=
n.1808C=
c.6373C= (p.Arg2125=)
c.6301C= (p.Arg2101=)
c.2494C=
c.6328C= (p.Arg2110=)
n.1745C=
n.1800C=
c.6400C= (p.Arg2134=)
c.5452C= (p.Arg1818=)
c.6628C= (p.Arg2210=)
c.6517C= (p.Arg2173=)
c.6439C= (p.Arg2147=)
c.6091C= (p.Arg2031=)
c.5716C= (p.Arg1906=)
c.6523C= (p.Arg2175=)
c.6625C= (p.Arg2209=)
c.6601C= (p.Arg2201=)
c.6568C= (p.Arg2190=)
c.6544C= (p.Arg2182=)
c.6499C= (p.Arg2167=)
3g.53811293C>GCA353259358CACNA1Dc.6433C>G (p.Arg2145Gly)
n.1762C>G
n.3372C>G
n.1808C>G
c.6373C>G (p.Arg2125Gly)
c.6301C>G (p.Arg2101Gly)
c.2494C>G
c.6328C>G (p.Arg2110Gly)
n.1745C>G
n.1800C>G
c.6400C>G (p.Arg2134Gly)
c.5452C>G (p.Arg1818Gly)
c.6628C>G (p.Arg2210Gly)
c.6517C>G (p.Arg2173Gly)
c.6439C>G (p.Arg2147Gly)
c.6091C>G (p.Arg2031Gly)
c.5716C>G (p.Arg1906Gly)
c.6523C>G (p.Arg2175Gly)
c.6625C>G (p.Arg2209Gly)
c.6601C>G (p.Arg2201Gly)
c.6568C>G (p.Arg2190Gly)
c.6544C>G (p.Arg2182Gly)
c.6499C>G (p.Arg2167Gly)
3g.53811293C>TCA2455437CACNA1Dc.6433C>T (p.Arg2145Trp)
n.1762C>T
n.3372C>T
n.1808C>T
c.6373C>T (p.Arg2125Trp)
c.6301C>T (p.Arg2101Trp)
c.2494C>T
c.6328C>T (p.Arg2110Trp)
n.1745C>T
n.1800C>T
c.6400C>T (p.Arg2134Trp)
c.5452C>T (p.Arg1818Trp)
c.6628C>T (p.Arg2210Trp)
c.6517C>T (p.Arg2173Trp)
c.6439C>T (p.Arg2147Trp)
c.6091C>T (p.Arg2031Trp)
c.5716C>T (p.Arg1906Trp)
c.6523C>T (p.Arg2175Trp)
c.6625C>T (p.Arg2209Trp)
c.6601C>T (p.Arg2201Trp)
c.6568C>T (p.Arg2190Trp)
c.6544C>T (p.Arg2182Trp)
c.6499C>T (p.Arg2167Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811294G>ACA2455438CACNA1Dc.6434G>A (p.Arg2145Gln)
n.1763G>A
n.3373G>A
n.1809G>A
c.6374G>A (p.Arg2125Gln)
c.6302G>A (p.Arg2101Gln)
c.2495G>A
c.6329G>A (p.Arg2110Gln)
n.1746G>A
n.1801G>A
c.6401G>A (p.Arg2134Gln)
c.5453G>A (p.Arg1818Gln)
c.6629G>A (p.Arg2210Gln)
c.6518G>A (p.Arg2173Gln)
c.6440G>A (p.Arg2147Gln)
c.6092G>A (p.Arg2031Gln)
c.5717G>A (p.Arg1906Gln)
c.6524G>A (p.Arg2175Gln)
c.6626G>A (p.Arg2209Gln)
c.6602G>A (p.Arg2201Gln)
c.6569G>A (p.Arg2190Gln)
c.6545G>A (p.Arg2182Gln)
c.6500G>A (p.Arg2167Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811294G>CCA353259359CACNA1Dc.6434G>C (p.Arg2145Pro)
n.1763G>C
n.3373G>C
n.1809G>C
c.6374G>C (p.Arg2125Pro)
c.6302G>C (p.Arg2101Pro)
c.2495G>C
c.6329G>C (p.Arg2110Pro)
n.1746G>C
n.1801G>C
c.6401G>C (p.Arg2134Pro)
c.5453G>C (p.Arg1818Pro)
c.6629G>C (p.Arg2210Pro)
c.6518G>C (p.Arg2173Pro)
c.6440G>C (p.Arg2147Pro)
c.6092G>C (p.Arg2031Pro)
c.5717G>C (p.Arg1906Pro)
c.6524G>C (p.Arg2175Pro)
c.6626G>C (p.Arg2209Pro)
c.6602G>C (p.Arg2201Pro)
c.6569G>C (p.Arg2190Pro)
c.6545G>C (p.Arg2182Pro)
c.6500G>C (p.Arg2167Pro)
3g.53811294G=CA1365489028CACNA1Dc.6434G= (p.Arg2145=)
n.1763G=
n.3373G=
n.1809G=
c.6374G= (p.Arg2125=)
c.6302G= (p.Arg2101=)
c.2495G=
c.6329G= (p.Arg2110=)
n.1746G=
n.1801G=
c.6401G= (p.Arg2134=)
c.5453G= (p.Arg1818=)
c.6629G= (p.Arg2210=)
c.6518G= (p.Arg2173=)
c.6440G= (p.Arg2147=)
c.6092G= (p.Arg2031=)
c.5717G= (p.Arg1906=)
c.6524G= (p.Arg2175=)
c.6626G= (p.Arg2209=)
c.6602G= (p.Arg2201=)
c.6569G= (p.Arg2190=)
c.6545G= (p.Arg2182=)
c.6500G= (p.Arg2167=)
3g.53811294G>TCA2455439CACNA1Dc.6434G>T (p.Arg2145Leu)
n.1763G>T
n.3373G>T
n.1809G>T
c.6374G>T (p.Arg2125Leu)
c.6302G>T (p.Arg2101Leu)
c.2495G>T
c.6329G>T (p.Arg2110Leu)
n.1746G>T
n.1801G>T
c.6401G>T (p.Arg2134Leu)
c.5453G>T (p.Arg1818Leu)
c.6629G>T (p.Arg2210Leu)
c.6518G>T (p.Arg2173Leu)
c.6440G>T (p.Arg2147Leu)
c.6092G>T (p.Arg2031Leu)
c.5717G>T (p.Arg1906Leu)
c.6524G>T (p.Arg2175Leu)
c.6626G>T (p.Arg2209Leu)
c.6602G>T (p.Arg2201Leu)
c.6569G>T (p.Arg2190Leu)
c.6545G>T (p.Arg2182Leu)
c.6500G>T (p.Arg2167Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.53811295G>ACA433896076CACNA1Dc.6435G>A (p.Arg2145=)
n.1764G>A
n.3374G>A
n.1810G>A
c.6375G>A (p.Arg2125=)
c.6303G>A (p.Arg2101=)
c.2496G>A
c.6330G>A (p.Arg2110=)
n.1747G>A
n.1802G>A
c.6402G>A (p.Arg2134=)
c.5454G>A (p.Arg1818=)
c.6630G>A (p.Arg2210=)
c.6519G>A (p.Arg2173=)
c.6441G>A (p.Arg2147=)
c.6093G>A (p.Arg2031=)
c.5718G>A (p.Arg1906=)
c.6525G>A (p.Arg2175=)
c.6627G>A (p.Arg2209=)
c.6603G>A (p.Arg2201=)
c.6570G>A (p.Arg2190=)
c.6546G>A (p.Arg2182=)
c.6501G>A (p.Arg2167=)
3g.53811295G>CCA433896074CACNA1Dc.6435G>C (p.Arg2145=)
n.1764G>C
n.3374G>C
n.1810G>C
c.6375G>C (p.Arg2125=)
c.6303G>C (p.Arg2101=)
c.2496G>C
c.6330G>C (p.Arg2110=)
n.1747G>C
n.1802G>C
c.6402G>C (p.Arg2134=)
c.5454G>C (p.Arg1818=)
c.6630G>C (p.Arg2210=)
c.6519G>C (p.Arg2173=)
c.6441G>C (p.Arg2147=)
c.6093G>C (p.Arg2031=)
c.5718G>C (p.Arg1906=)
c.6525G>C (p.Arg2175=)
c.6627G>C (p.Arg2209=)
c.6603G>C (p.Arg2201=)
c.6570G>C (p.Arg2190=)
c.6546G>C (p.Arg2182=)
c.6501G>C (p.Arg2167=)
3g.53811295G>TCA433896072CACNA1Dc.6435G>T (p.Arg2145=)
n.1764G>T
n.3374G>T
n.1810G>T
c.6375G>T (p.Arg2125=)
c.6303G>T (p.Arg2101=)
c.2496G>T
c.6330G>T (p.Arg2110=)
n.1747G>T
n.1802G>T
c.6402G>T (p.Arg2134=)
c.5454G>T (p.Arg1818=)
c.6630G>T (p.Arg2210=)
c.6519G>T (p.Arg2173=)
c.6441G>T (p.Arg2147=)
c.6093G>T (p.Arg2031=)
c.5718G>T (p.Arg1906=)
c.6525G>T (p.Arg2175=)
c.6627G>T (p.Arg2209=)
c.6603G>T (p.Arg2201=)
c.6570G>T (p.Arg2190=)
c.6546G>T (p.Arg2182=)
c.6501G>T (p.Arg2167=)
3g.53811296C>ACA353259360CACNA1Dc.6436C>A (p.Gln2146Lys)
n.1765C>A
n.3375C>A
n.1811C>A
c.6376C>A (p.Gln2126Lys)
c.6304C>A (p.Gln2102Lys)
c.2497C>A
c.6331C>A (p.Gln2111Lys)
n.1748C>A
n.1803C>A
c.6403C>A (p.Gln2135Lys)
c.5455C>A (p.Gln1819Lys)
c.6631C>A (p.Gln2211Lys)
c.6520C>A (p.Gln2174Lys)
c.6442C>A (p.Gln2148Lys)
c.6094C>A (p.Gln2032Lys)
c.5719C>A (p.Gln1907Lys)
c.6526C>A (p.Gln2176Lys)
c.6628C>A (p.Gln2210Lys)
c.6604C>A (p.Gln2202Lys)
c.6571C>A (p.Gln2191Lys)
c.6547C>A (p.Gln2183Lys)
c.6502C>A (p.Gln2168Lys)
3g.53811296C>GCA353259361CACNA1Dc.6436C>G (p.Gln2146Glu)
n.1765C>G
n.3375C>G
n.1811C>G
c.6376C>G (p.Gln2126Glu)
c.6304C>G (p.Gln2102Glu)
c.2497C>G
c.6331C>G (p.Gln2111Glu)
n.1748C>G
n.1803C>G
c.6403C>G (p.Gln2135Glu)
c.5455C>G (p.Gln1819Glu)
c.6631C>G (p.Gln2211Glu)
c.6520C>G (p.Gln2174Glu)
c.6442C>G (p.Gln2148Glu)
c.6094C>G (p.Gln2032Glu)
c.5719C>G (p.Gln1907Glu)
c.6526C>G (p.Gln2176Glu)
c.6628C>G (p.Gln2210Glu)
c.6604C>G (p.Gln2202Glu)
c.6571C>G (p.Gln2191Glu)
c.6547C>G (p.Gln2183Glu)
c.6502C>G (p.Gln2168Glu)
3g.53811296C>TCA353259362CACNA1Dc.6436C>T (p.Gln2146Ter)
n.1765C>T
n.3375C>T
n.1811C>T
c.6376C>T (p.Gln2126Ter)
c.6304C>T (p.Gln2102Ter)
c.2497C>T
c.6331C>T (p.Gln2111Ter)
n.1748C>T
n.1803C>T
c.6403C>T (p.Gln2135Ter)
c.5455C>T (p.Gln1819Ter)
c.6631C>T (p.Gln2211Ter)
c.6520C>T (p.Gln2174Ter)
c.6442C>T (p.Gln2148Ter)
c.6094C>T (p.Gln2032Ter)
c.5719C>T (p.Gln1907Ter)
c.6526C>T (p.Gln2176Ter)
c.6628C>T (p.Gln2210Ter)
c.6604C>T (p.Gln2202Ter)
c.6571C>T (p.Gln2191Ter)
c.6547C>T (p.Gln2183Ter)
c.6502C>T (p.Gln2168Ter)
3g.53811297A=CA1365489029CACNA1Dc.6437A= (p.Gln2146=)
n.1766A=
n.3376A=
n.1812A=
c.6377A= (p.Gln2126=)
c.6305A= (p.Gln2102=)
c.2498A=
c.6332A= (p.Gln2111=)
n.1749A=
n.1804A=
c.6404A= (p.Gln2135=)
c.5456A= (p.Gln1819=)
c.6632A= (p.Gln2211=)
c.6521A= (p.Gln2174=)
c.6443A= (p.Gln2148=)
c.6095A= (p.Gln2032=)
c.5720A= (p.Gln1907=)
c.6527A= (p.Gln2176=)
c.6629A= (p.Gln2210=)
c.6605A= (p.Gln2202=)
c.6572A= (p.Gln2191=)
c.6548A= (p.Gln2183=)
c.6503A= (p.Gln2168=)
3g.53811297A>CCA353259364CACNA1Dc.6437A>C (p.Gln2146Pro)
n.1766A>C
n.3376A>C
n.1812A>C
c.6377A>C (p.Gln2126Pro)
c.6305A>C (p.Gln2102Pro)
c.2498A>C
c.6332A>C (p.Gln2111Pro)
n.1749A>C
n.1804A>C
c.6404A>C (p.Gln2135Pro)
c.5456A>C (p.Gln1819Pro)
c.6632A>C (p.Gln2211Pro)
c.6521A>C (p.Gln2174Pro)
c.6443A>C (p.Gln2148Pro)
c.6095A>C (p.Gln2032Pro)
c.5720A>C (p.Gln1907Pro)
c.6527A>C (p.Gln2176Pro)
c.6629A>C (p.Gln2210Pro)
c.6605A>C (p.Gln2202Pro)
c.6572A>C (p.Gln2191Pro)
c.6548A>C (p.Gln2183Pro)
c.6503A>C (p.Gln2168Pro)
3g.53811297A>GCA353259366CACNA1Dc.6437A>G (p.Gln2146Arg)
n.1766A>G
n.3376A>G
n.1812A>G
c.6377A>G (p.Gln2126Arg)
c.6305A>G (p.Gln2102Arg)
c.2498A>G
c.6332A>G (p.Gln2111Arg)
n.1749A>G
n.1804A>G
c.6404A>G (p.Gln2135Arg)
c.5456A>G (p.Gln1819Arg)
c.6632A>G (p.Gln2211Arg)
c.6521A>G (p.Gln2174Arg)
c.6443A>G (p.Gln2148Arg)
c.6095A>G (p.Gln2032Arg)
c.5720A>G (p.Gln1907Arg)
c.6527A>G (p.Gln2176Arg)
c.6629A>G (p.Gln2210Arg)
c.6605A>G (p.Gln2202Arg)
c.6572A>G (p.Gln2191Arg)
c.6548A>G (p.Gln2183Arg)
c.6503A>G (p.Gln2168Arg)
 gnomAD v4
3g.53811297A>TCA353259369CACNA1Dc.6437A>T (p.Gln2146Leu)
n.1766A>T
n.3376A>T
n.1812A>T
c.6377A>T (p.Gln2126Leu)
c.6305A>T (p.Gln2102Leu)
c.2498A>T
c.6332A>T (p.Gln2111Leu)
n.1749A>T
n.1804A>T
c.6404A>T (p.Gln2135Leu)
c.5456A>T (p.Gln1819Leu)
c.6632A>T (p.Gln2211Leu)
c.6521A>T (p.Gln2174Leu)
c.6443A>T (p.Gln2148Leu)
c.6095A>T (p.Gln2032Leu)
c.5720A>T (p.Gln1907Leu)
c.6527A>T (p.Gln2176Leu)
c.6629A>T (p.Gln2210Leu)
c.6605A>T (p.Gln2202Leu)
c.6572A>T (p.Gln2191Leu)
c.6548A>T (p.Gln2183Leu)
c.6503A>T (p.Gln2168Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.53811298G>ACA433896080CACNA1Dc.6438G>A (p.Gln2146=)
n.1767G>A
n.3377G>A
n.1813G>A
c.6378G>A (p.Gln2126=)
c.6306G>A (p.Gln2102=)
c.2499G>A
c.6333G>A (p.Gln2111=)
n.1805G>A
c.6405G>A (p.Gln2135=)
c.5457G>A (p.Gln1819=)
c.6633G>A (p.Gln2211=)
c.6522G>A (p.Gln2174=)
c.6444G>A (p.Gln2148=)
c.6096G>A (p.Gln2032=)
c.5721G>A (p.Gln1907=)
c.6528G>A (p.Gln2176=)
c.6630G>A (p.Gln2210=)
c.6606G>A (p.Gln2202=)
c.6573G>A (p.Gln2191=)
c.6549G>A (p.Gln2183=)
c.6504G>A (p.Gln2168=)
3g.53811298G>CCA353259372CACNA1Dc.6438G>C (p.Gln2146His)
n.1767G>C
n.3377G>C
n.1813G>C
c.6378G>C (p.Gln2126His)
c.6306G>C (p.Gln2102His)
c.2499G>C
c.6333G>C (p.Gln2111His)
n.1805G>C
c.6405G>C (p.Gln2135His)
c.5457G>C (p.Gln1819His)
c.6633G>C (p.Gln2211His)
c.6522G>C (p.Gln2174His)
c.6444G>C (p.Gln2148His)
c.6096G>C (p.Gln2032His)
c.5721G>C (p.Gln1907His)
c.6528G>C (p.Gln2176His)
c.6630G>C (p.Gln2210His)
c.6606G>C (p.Gln2202His)
c.6573G>C (p.Gln2191His)
c.6549G>C (p.Gln2183His)
c.6504G>C (p.Gln2168His)
3g.53811298G>TCA353259374CACNA1Dc.6438G>T (p.Gln2146His)
n.1767G>T
n.3377G>T
n.1813G>T
c.6378G>T (p.Gln2126His)
c.6306G>T (p.Gln2102His)
c.2499G>T
c.6333G>T (p.Gln2111His)
n.1805G>T
c.6405G>T (p.Gln2135His)
c.5457G>T (p.Gln1819His)
c.6633G>T (p.Gln2211His)
c.6522G>T (p.Gln2174His)
c.6444G>T (p.Gln2148His)
c.6096G>T (p.Gln2032His)
c.5721G>T (p.Gln1907His)
c.6528G>T (p.Gln2176His)
c.6630G>T (p.Gln2210His)
c.6606G>T (p.Gln2202His)
c.6573G>T (p.Gln2191His)
c.6549G>T (p.Gln2183His)
c.6504G>T (p.Gln2168His)
3g.53811299dupCA74870208CACNA1Dc.6439dup (p.Asp2147GlyfsTer3)
n.1768dup
n.3378dup
n.1814dup
c.6379dup (p.Asp2127GlyfsTer3)
c.6307dup (p.Asp2103GlyfsTer3)
c.2500dup
c.6334dup (p.Asp2112GlyfsTer3)
n.1806dup
c.6406dup (p.Asp2136GlyfsTer3)
c.5458dup (p.Asp1820GlyfsTer3)
c.6634dup (p.Asp2212GlyfsTer3)
c.6523dup (p.Asp2175GlyfsTer3)
c.6445dup (p.Asp2149GlyfsTer3)
c.6097dup (p.Asp2033GlyfsTer3)
c.5722dup (p.Asp1908GlyfsTer3)
c.6529dup (p.Asp2177GlyfsTer3)
c.6631dup (p.Asp2211GlyfsTer3)
c.6607dup (p.Asp2203GlyfsTer3)
c.6574dup (p.Asp2192GlyfsTer3)
c.6550dup (p.Asp2184GlyfsTer3)
c.6505dup (p.Asp2169GlyfsTer3)
 dbSNP
3g.53811299G>ACA353259384CACNA1Dc.6439G>A (p.Asp2147Asn)
n.1768G>A
n.3378G>A
n.1814G>A
c.6379G>A (p.Asp2127Asn)
c.6307G>A (p.Asp2103Asn)
c.2500G>A
c.6334G>A (p.Asp2112Asn)
n.1806G>A
c.6406G>A (p.Asp2136Asn)
c.5458G>A (p.Asp1820Asn)
c.6634G>A (p.Asp2212Asn)
c.6523G>A (p.Asp2175Asn)
c.6445G>A (p.Asp2149Asn)
c.6097G>A (p.Asp2033Asn)
c.5722G>A (p.Asp1908Asn)
c.6529G>A (p.Asp2177Asn)
c.6631G>A (p.Asp2211Asn)
c.6607G>A (p.Asp2203Asn)
c.6574G>A (p.Asp2192Asn)
c.6550G>A (p.Asp2184Asn)
c.6505G>A (p.Asp2169Asn)
3g.53811299G>CCA353259382CACNA1Dc.6439G>C (p.Asp2147His)
n.1768G>C
n.3378G>C
n.1814G>C
c.6379G>C (p.Asp2127His)
c.6307G>C (p.Asp2103His)
c.2500G>C
c.6334G>C (p.Asp2112His)
n.1806G>C
c.6406G>C (p.Asp2136His)
c.5458G>C (p.Asp1820His)
c.6634G>C (p.Asp2212His)
c.6523G>C (p.Asp2175His)
c.6445G>C (p.Asp2149His)
c.6097G>C (p.Asp2033His)
c.5722G>C (p.Asp1908His)
c.6529G>C (p.Asp2177His)
c.6631G>C (p.Asp2211His)
c.6607G>C (p.Asp2203His)
c.6574G>C (p.Asp2192His)
c.6550G>C (p.Asp2184His)
c.6505G>C (p.Asp2169His)
3g.53811299G>TCA353259379CACNA1Dc.6439G>T (p.Asp2147Tyr)
n.1768G>T
n.3378G>T
n.1814G>T
c.6379G>T (p.Asp2127Tyr)
c.6307G>T (p.Asp2103Tyr)
c.2500G>T
c.6334G>T (p.Asp2112Tyr)
n.1806G>T
c.6406G>T (p.Asp2136Tyr)
c.5458G>T (p.Asp1820Tyr)
c.6634G>T (p.Asp2212Tyr)
c.6523G>T (p.Asp2175Tyr)
c.6445G>T (p.Asp2149Tyr)
c.6097G>T (p.Asp2033Tyr)
c.5722G>T (p.Asp1908Tyr)
c.6529G>T (p.Asp2177Tyr)
c.6631G>T (p.Asp2211Tyr)
c.6607G>T (p.Asp2203Tyr)
c.6574G>T (p.Asp2192Tyr)
c.6550G>T (p.Asp2184Tyr)
c.6505G>T (p.Asp2169Tyr)
3g.53811300A=CA1365489030CACNA1Dc.6440A= (p.Asp2147=)
n.1769A=
n.3379A=
n.1815A=
c.6380A= (p.Asp2127=)
c.6308A= (p.Asp2103=)
c.2501A=
c.6335A= (p.Asp2112=)
n.1807A=
c.6407A= (p.Asp2136=)
c.5459A= (p.Asp1820=)
c.6635A= (p.Asp2212=)
c.6524A= (p.Asp2175=)
c.6446A= (p.Asp2149=)
c.6098A= (p.Asp2033=)
c.5723A= (p.Asp1908=)
c.6530A= (p.Asp2177=)
c.6632A= (p.Asp2211=)
c.6608A= (p.Asp2203=)
c.6575A= (p.Asp2192=)
c.6551A= (p.Asp2184=)
c.6506A= (p.Asp2169=)
3g.53811300A>CCA353259387CACNA1Dc.6440A>C (p.Asp2147Ala)
n.1769A>C
n.3379A>C
n.1815A>C
c.6380A>C (p.Asp2127Ala)
c.6308A>C (p.Asp2103Ala)
c.2501A>C
c.6335A>C (p.Asp2112Ala)
n.1807A>C
c.6407A>C (p.Asp2136Ala)
c.5459A>C (p.Asp1820Ala)
c.6635A>C (p.Asp2212Ala)
c.6524A>C (p.Asp2175Ala)
c.6446A>C (p.Asp2149Ala)
c.6098A>C (p.Asp2033Ala)
c.5723A>C (p.Asp1908Ala)
c.6530A>C (p.Asp2177Ala)
c.6632A>C (p.Asp2211Ala)
c.6608A>C (p.Asp2203Ala)
c.6575A>C (p.Asp2192Ala)
c.6551A>C (p.Asp2184Ala)
c.6506A>C (p.Asp2169Ala)
3g.53811300A>GCA353259389CACNA1Dc.6440A>G (p.Asp2147Gly)
n.1769A>G
n.3379A>G
n.1815A>G
c.6380A>G (p.Asp2127Gly)
c.6308A>G (p.Asp2103Gly)
c.2501A>G
c.6335A>G (p.Asp2112Gly)
n.1807A>G
c.6407A>G (p.Asp2136Gly)
c.5459A>G (p.Asp1820Gly)
c.6635A>G (p.Asp2212Gly)
c.6524A>G (p.Asp2175Gly)
c.6446A>G (p.Asp2149Gly)
c.6098A>G (p.Asp2033Gly)
c.5723A>G (p.Asp1908Gly)
c.6530A>G (p.Asp2177Gly)
c.6632A>G (p.Asp2211Gly)
c.6608A>G (p.Asp2203Gly)
c.6575A>G (p.Asp2192Gly)
c.6551A>G (p.Asp2184Gly)
c.6506A>G (p.Asp2169Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.53811300A>TCA353259391CACNA1Dc.6440A>T (p.Asp2147Val)
n.1769A>T
n.3379A>T
n.1815A>T
c.6380A>T (p.Asp2127Val)
c.6308A>T (p.Asp2103Val)
c.2501A>T
c.6335A>T (p.Asp2112Val)
n.1807A>T
c.6407A>T (p.Asp2136Val)
c.5459A>T (p.Asp1820Val)
c.6635A>T (p.Asp2212Val)
c.6524A>T (p.Asp2175Val)
c.6446A>T (p.Asp2149Val)
c.6098A>T (p.Asp2033Val)
c.5723A>T (p.Asp1908Val)
c.6530A>T (p.Asp2177Val)
c.6632A>T (p.Asp2211Val)
c.6608A>T (p.Asp2203Val)
c.6575A>T (p.Asp2192Val)
c.6551A>T (p.Asp2184Val)
c.6506A>T (p.Asp2169Val)
 dbSNP gnomAD v2 gnomAD v4
3g.53811301C>ACA353259394CACNA1Dc.6441C>A (p.Asp2147Glu)
n.1770C>A
n.3380C>A
n.1816C>A
c.6381C>A (p.Asp2127Glu)
c.6309C>A (p.Asp2103Glu)
c.2502C>A
c.6336C>A (p.Asp2112Glu)
n.1808C>A
c.6408C>A (p.Asp2136Glu)
c.5460C>A (p.Asp1820Glu)
c.6636C>A (p.Asp2212Glu)
c.6525C>A (p.Asp2175Glu)
c.6447C>A (p.Asp2149Glu)
c.6099C>A (p.Asp2033Glu)
c.5724C>A (p.Asp1908Glu)
c.6531C>A (p.Asp2177Glu)
c.6633C>A (p.Asp2211Glu)
c.6609C>A (p.Asp2203Glu)
c.6576C>A (p.Asp2192Glu)
c.6552C>A (p.Asp2184Glu)
c.6507C>A (p.Asp2169Glu)
3g.53811301C>GCA353259396CACNA1Dc.6441C>G (p.Asp2147Glu)
n.1770C>G
n.3380C>G
n.1816C>G
c.6381C>G (p.Asp2127Glu)
c.6309C>G (p.Asp2103Glu)
c.2502C>G
c.6336C>G (p.Asp2112Glu)
n.1808C>G
c.6408C>G (p.Asp2136Glu)
c.5460C>G (p.Asp1820Glu)
c.6636C>G (p.Asp2212Glu)
c.6525C>G (p.Asp2175Glu)
c.6447C>G (p.Asp2149Glu)
c.6099C>G (p.Asp2033Glu)
c.5724C>G (p.Asp1908Glu)
c.6531C>G (p.Asp2177Glu)
c.6633C>G (p.Asp2211Glu)
c.6609C>G (p.Asp2203Glu)
c.6576C>G (p.Asp2192Glu)
c.6552C>G (p.Asp2184Glu)
c.6507C>G (p.Asp2169Glu)
3g.53811301C>TCA433896088CACNA1Dc.6441C>T (p.Asp2147=)
n.1770C>T
n.3380C>T
n.1816C>T
c.6381C>T (p.Asp2127=)
c.6309C>T (p.Asp2103=)
c.2502C>T
c.6336C>T (p.Asp2112=)
n.1808C>T
c.6408C>T (p.Asp2136=)
c.5460C>T (p.Asp1820=)
c.6636C>T (p.Asp2212=)
c.6525C>T (p.Asp2175=)
c.6447C>T (p.Asp2149=)
c.6099C>T (p.Asp2033=)
c.5724C>T (p.Asp1908=)
c.6531C>T (p.Asp2177=)
c.6633C>T (p.Asp2211=)
c.6609C>T (p.Asp2203=)
c.6576C>T (p.Asp2192=)
c.6552C>T (p.Asp2184=)
c.6507C>T (p.Asp2169=)
3g.53811302T>ACA353259400CACNA1Dc.6442T>A (p.Tyr2148Asn)
n.1771T>A
n.3381T>A
n.1817T>A
c.6382T>A (p.Tyr2128Asn)
c.6310T>A (p.Tyr2104Asn)
c.2503T>A
c.6337T>A (p.Tyr2113Asn)
n.1809T>A
c.6409T>A (p.Tyr2137Asn)
c.5461T>A (p.Tyr1821Asn)
c.6637T>A (p.Tyr2213Asn)
c.6526T>A (p.Tyr2176Asn)
c.6448T>A (p.Tyr2150Asn)
c.6100T>A (p.Tyr2034Asn)
c.5725T>A (p.Tyr1909Asn)
c.6532T>A (p.Tyr2178Asn)
c.6634T>A (p.Tyr2212Asn)
c.6610T>A (p.Tyr2204Asn)
c.6577T>A (p.Tyr2193Asn)
c.6553T>A (p.Tyr2185Asn)
c.6508T>A (p.Tyr2170Asn)
3g.53811302T>CCA74870213CACNA1Dc.6442T>C (p.Tyr2148His)
n.1771T>C
n.3381T>C
n.1817T>C
c.6382T>C (p.Tyr2128His)
c.6310T>C (p.Tyr2104His)
c.2503T>C
c.6337T>C (p.Tyr2113His)
n.1809T>C
c.6409T>C (p.Tyr2137His)
c.5461T>C (p.Tyr1821His)
c.6637T>C (p.Tyr2213His)
c.6526T>C (p.Tyr2176His)
c.6448T>C (p.Tyr2150His)
c.6100T>C (p.Tyr2034His)
c.5725T>C (p.Tyr1909His)
c.6532T>C (p.Tyr2178His)
c.6634T>C (p.Tyr2212His)
c.6610T>C (p.Tyr2204His)
c.6577T>C (p.Tyr2193His)
c.6553T>C (p.Tyr2185His)
c.6508T>C (p.Tyr2170His)
 dbSNP gnomAD v4
3g.53811302T>GCA353259405CACNA1Dc.6442T>G (p.Tyr2148Asp)
n.1771T>G
n.3381T>G
n.1817T>G
c.6382T>G (p.Tyr2128Asp)
c.6310T>G (p.Tyr2104Asp)
c.2503T>G
c.6337T>G (p.Tyr2113Asp)
n.1809T>G
c.6409T>G (p.Tyr2137Asp)
c.5461T>G (p.Tyr1821Asp)
c.6637T>G (p.Tyr2213Asp)
c.6526T>G (p.Tyr2176Asp)
c.6448T>G (p.Tyr2150Asp)
c.6100T>G (p.Tyr2034Asp)
c.5725T>G (p.Tyr1909Asp)
c.6532T>G (p.Tyr2178Asp)
c.6634T>G (p.Tyr2212Asp)
c.6610T>G (p.Tyr2204Asp)
c.6577T>G (p.Tyr2193Asp)
c.6553T>G (p.Tyr2185Asp)
c.6508T>G (p.Tyr2170Asp)
3g.53811302T=CA1365489031CACNA1Dc.6442T= (p.Tyr2148=)
n.1771T=
n.3381T=
n.1817T=
c.6382T= (p.Tyr2128=)
c.6310T= (p.Tyr2104=)
c.2503T=
c.6337T= (p.Tyr2113=)
n.1809T=
c.6409T= (p.Tyr2137=)
c.5461T= (p.Tyr1821=)
c.6637T= (p.Tyr2213=)
c.6526T= (p.Tyr2176=)
c.6448T= (p.Tyr2150=)
c.6100T= (p.Tyr2034=)
c.5725T= (p.Tyr1909=)
c.6532T= (p.Tyr2178=)
c.6634T= (p.Tyr2212=)
c.6610T= (p.Tyr2204=)
c.6577T= (p.Tyr2193=)
c.6553T= (p.Tyr2185=)
c.6508T= (p.Tyr2170=)
3g.53811303_53811304delCA2756306198CACNA1Dc.6443_6444del (p.Tyr2148Ter)
n.1772_1773del
n.3382_3383del
n.1818_1819del
c.6383_6384del (p.Tyr2128Ter)
c.6311_6312del (p.Tyr2104Ter)
c.2504_2505del
c.6338_6339del (p.Tyr2113Ter)
n.1810_1811del
c.6410_6411del (p.Tyr2137Ter)
c.5462_5463del (p.Tyr1821Ter)
c.6638_6639del (p.Tyr2213Ter)
c.6527_6528del (p.Tyr2176Ter)
c.6449_6450del (p.Tyr2150Ter)
c.6101_6102del (p.Tyr2034Ter)
c.5726_5727del (p.Tyr1909Ter)
c.6533_6534del (p.Tyr2178Ter)
c.6635_6636del (p.Tyr2212Ter)
c.6611_6612del (p.Tyr2204Ter)
c.6578_6579del (p.Tyr2193Ter)
c.6554_6555del (p.Tyr2185Ter)
c.6509_6510del (p.Tyr2170Ter)
3g.53811303A=CA1365489032CACNA1Dc.6443A= (p.Tyr2148=)
n.1772A=
n.3382A=
n.1818A=
c.6383A= (p.Tyr2128=)
c.6311A= (p.Tyr2104=)
c.2504A=
c.6338A= (p.Tyr2113=)
n.1810A=
c.6410A= (p.Tyr2137=)
c.5462A= (p.Tyr1821=)
c.6638A= (p.Tyr2213=)
c.6527A= (p.Tyr2176=)
c.6449A= (p.Tyr2150=)
c.6101A= (p.Tyr2034=)
c.5726A= (p.Tyr1909=)
c.6533A= (p.Tyr2178=)
c.6635A= (p.Tyr2212=)
c.6611A= (p.Tyr2204=)
c.6578A= (p.Tyr2193=)
c.6554A= (p.Tyr2185=)
c.6509A= (p.Tyr2170=)
3g.53811303A>CCA353259407CACNA1Dc.6443A>C (p.Tyr2148Ser)
n.1772A>C
n.3382A>C
n.1818A>C
c.6383A>C (p.Tyr2128Ser)
c.6311A>C (p.Tyr2104Ser)
c.2504A>C
c.6338A>C (p.Tyr2113Ser)
n.1810A>C
c.6410A>C (p.Tyr2137Ser)
c.5462A>C (p.Tyr1821Ser)
c.6638A>C (p.Tyr2213Ser)
c.6527A>C (p.Tyr2176Ser)
c.6449A>C (p.Tyr2150Ser)
c.6101A>C (p.Tyr2034Ser)
c.5726A>C (p.Tyr1909Ser)
c.6533A>C (p.Tyr2178Ser)
c.6635A>C (p.Tyr2212Ser)
c.6611A>C (p.Tyr2204Ser)
c.6578A>C (p.Tyr2193Ser)
c.6554A>C (p.Tyr2185Ser)
c.6509A>C (p.Tyr2170Ser)
3g.53811303A>GCA2455440CACNA1Dc.6443A>G (p.Tyr2148Cys)
n.1772A>G
n.3382A>G
n.1818A>G
c.6383A>G (p.Tyr2128Cys)
c.6311A>G (p.Tyr2104Cys)
c.2504A>G
c.6338A>G (p.Tyr2113Cys)
n.1810A>G
c.6410A>G (p.Tyr2137Cys)
c.5462A>G (p.Tyr1821Cys)
c.6638A>G (p.Tyr2213Cys)
c.6527A>G (p.Tyr2176Cys)
c.6449A>G (p.Tyr2150Cys)
c.6101A>G (p.Tyr2034Cys)
c.5726A>G (p.Tyr1909Cys)
c.6533A>G (p.Tyr2178Cys)
c.6635A>G (p.Tyr2212Cys)
c.6611A>G (p.Tyr2204Cys)
c.6578A>G (p.Tyr2193Cys)
c.6554A>G (p.Tyr2185Cys)
c.6509A>G (p.Tyr2170Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811303A>TCA353259411CACNA1Dc.6443A>T (p.Tyr2148Phe)
n.1772A>T
n.3382A>T
n.1818A>T
c.6383A>T (p.Tyr2128Phe)
c.6311A>T (p.Tyr2104Phe)
c.2504A>T
c.6338A>T (p.Tyr2113Phe)
n.1810A>T
c.6410A>T (p.Tyr2137Phe)
c.5462A>T (p.Tyr1821Phe)
c.6638A>T (p.Tyr2213Phe)
c.6527A>T (p.Tyr2176Phe)
c.6449A>T (p.Tyr2150Phe)
c.6101A>T (p.Tyr2034Phe)
c.5726A>T (p.Tyr1909Phe)
c.6533A>T (p.Tyr2178Phe)
c.6635A>T (p.Tyr2212Phe)
c.6611A>T (p.Tyr2204Phe)
c.6578A>T (p.Tyr2193Phe)
c.6554A>T (p.Tyr2185Phe)
c.6509A>T (p.Tyr2170Phe)
3g.53811304T>ACA353259414CACNA1Dc.6444T>A (p.Tyr2148Ter)
n.1773T>A
n.3383T>A
n.1819T>A
c.6384T>A (p.Tyr2128Ter)
c.6312T>A (p.Tyr2104Ter)
c.2505T>A
c.6339T>A (p.Tyr2113Ter)
n.1811T>A
c.6411T>A (p.Tyr2137Ter)
c.5463T>A (p.Tyr1821Ter)
c.6639T>A (p.Tyr2213Ter)
c.6528T>A (p.Tyr2176Ter)
c.6450T>A (p.Tyr2150Ter)
c.6102T>A (p.Tyr2034Ter)
c.5727T>A (p.Tyr1909Ter)
c.6534T>A (p.Tyr2178Ter)
c.6636T>A (p.Tyr2212Ter)
c.6612T>A (p.Tyr2204Ter)
c.6579T>A (p.Tyr2193Ter)
c.6555T>A (p.Tyr2185Ter)
c.6510T>A (p.Tyr2170Ter)
3g.53811304T>CCA433896091CACNA1Dc.6444T>C (p.Tyr2148=)
n.1773T>C
n.3383T>C
n.1819T>C
c.6384T>C (p.Tyr2128=)
c.6312T>C (p.Tyr2104=)
c.2505T>C
c.6339T>C (p.Tyr2113=)
n.1811T>C
c.6411T>C (p.Tyr2137=)
c.5463T>C (p.Tyr1821=)
c.6639T>C (p.Tyr2213=)
c.6528T>C (p.Tyr2176=)
c.6450T>C (p.Tyr2150=)
c.6102T>C (p.Tyr2034=)
c.5727T>C (p.Tyr1909=)
c.6534T>C (p.Tyr2178=)
c.6636T>C (p.Tyr2212=)
c.6612T>C (p.Tyr2204=)
c.6579T>C (p.Tyr2193=)
c.6555T>C (p.Tyr2185=)
c.6510T>C (p.Tyr2170=)
 dbSNP
3g.53811304T>GCA353259415CACNA1Dc.6444T>G (p.Tyr2148Ter)
n.1773T>G
n.3383T>G
n.1819T>G
c.6384T>G (p.Tyr2128Ter)
c.6312T>G (p.Tyr2104Ter)
c.2505T>G
c.6339T>G (p.Tyr2113Ter)
n.1811T>G
c.6411T>G (p.Tyr2137Ter)
c.5463T>G (p.Tyr1821Ter)
c.6639T>G (p.Tyr2213Ter)
c.6528T>G (p.Tyr2176Ter)
c.6450T>G (p.Tyr2150Ter)
c.6102T>G (p.Tyr2034Ter)
c.5727T>G (p.Tyr1909Ter)
c.6534T>G (p.Tyr2178Ter)
c.6636T>G (p.Tyr2212Ter)
c.6612T>G (p.Tyr2204Ter)
c.6579T>G (p.Tyr2193Ter)
c.6555T>G (p.Tyr2185Ter)
c.6510T>G (p.Tyr2170Ter)
3g.53811304T=CA1365489033CACNA1Dc.6444T= (p.Tyr2148=)
n.1773T=
n.3383T=
n.1819T=
c.6384T= (p.Tyr2128=)
c.6312T= (p.Tyr2104=)
c.2505T=
c.6339T= (p.Tyr2113=)
n.1811T=
c.6411T= (p.Tyr2137=)
c.5463T= (p.Tyr1821=)
c.6639T= (p.Tyr2213=)
c.6528T= (p.Tyr2176=)
c.6450T= (p.Tyr2150=)
c.6102T= (p.Tyr2034=)
c.5727T= (p.Tyr1909=)
c.6534T= (p.Tyr2178=)
c.6636T= (p.Tyr2212=)
c.6612T= (p.Tyr2204=)
c.6579T= (p.Tyr2193=)
c.6555T= (p.Tyr2185=)
c.6510T= (p.Tyr2170=)
3g.53811305G>ACA353259420CACNA1Dc.6445G>A (p.Glu2149Lys)
n.1774G>A
n.3384G>A
n.1820G>A
c.6385G>A (p.Glu2129Lys)
c.6313G>A (p.Glu2105Lys)
c.2506G>A
c.6340G>A (p.Glu2114Lys)
n.1812G>A
c.6412G>A (p.Glu2138Lys)
c.5464G>A (p.Glu1822Lys)
c.6640G>A (p.Glu2214Lys)
c.6529G>A (p.Glu2177Lys)
c.6451G>A (p.Glu2151Lys)
c.6103G>A (p.Glu2035Lys)
c.5728G>A (p.Glu1910Lys)
c.6535G>A (p.Glu2179Lys)
c.6637G>A (p.Glu2213Lys)
c.6613G>A (p.Glu2205Lys)
c.6580G>A (p.Glu2194Lys)
c.6556G>A (p.Glu2186Lys)
c.6511G>A (p.Glu2171Lys)
3g.53811305G>CCA353259419CACNA1Dc.6445G>C (p.Glu2149Gln)
n.1774G>C
n.3384G>C
n.1820G>C
c.6385G>C (p.Glu2129Gln)
c.6313G>C (p.Glu2105Gln)
c.2506G>C
c.6340G>C (p.Glu2114Gln)
n.1812G>C
c.6412G>C (p.Glu2138Gln)
c.5464G>C (p.Glu1822Gln)
c.6640G>C (p.Glu2214Gln)
c.6529G>C (p.Glu2177Gln)
c.6451G>C (p.Glu2151Gln)
c.6103G>C (p.Glu2035Gln)
c.5728G>C (p.Glu1910Gln)
c.6535G>C (p.Glu2179Gln)
c.6637G>C (p.Glu2213Gln)
c.6613G>C (p.Glu2205Gln)
c.6580G>C (p.Glu2194Gln)
c.6556G>C (p.Glu2186Gln)
c.6511G>C (p.Glu2171Gln)
3g.53811305G>TCA353259417CACNA1Dc.6445G>T (p.Glu2149Ter)
n.1774G>T
n.3384G>T
n.1820G>T
c.6385G>T (p.Glu2129Ter)
c.6313G>T (p.Glu2105Ter)
c.2506G>T
c.6340G>T (p.Glu2114Ter)
n.1812G>T
c.6412G>T (p.Glu2138Ter)
c.5464G>T (p.Glu1822Ter)
c.6640G>T (p.Glu2214Ter)
c.6529G>T (p.Glu2177Ter)
c.6451G>T (p.Glu2151Ter)
c.6103G>T (p.Glu2035Ter)
c.5728G>T (p.Glu1910Ter)
c.6535G>T (p.Glu2179Ter)
c.6637G>T (p.Glu2213Ter)
c.6613G>T (p.Glu2205Ter)
c.6580G>T (p.Glu2194Ter)
c.6556G>T (p.Glu2186Ter)
c.6511G>T (p.Glu2171Ter)
3g.53811306A>CCA353259428CACNA1Dc.6446A>C (p.Glu2149Ala)
n.1775A>C
n.3385A>C
n.1821A>C
c.6386A>C (p.Glu2129Ala)
c.6314A>C (p.Glu2105Ala)
c.2507A>C
c.6341A>C (p.Glu2114Ala)
n.1813A>C
c.6413A>C (p.Glu2138Ala)
c.5465A>C (p.Glu1822Ala)
c.6641A>C (p.Glu2214Ala)
c.6530A>C (p.Glu2177Ala)
c.6452A>C (p.Glu2151Ala)
c.6104A>C (p.Glu2035Ala)
c.5729A>C (p.Glu1910Ala)
c.6536A>C (p.Glu2179Ala)
c.6638A>C (p.Glu2213Ala)
c.6614A>C (p.Glu2205Ala)
c.6581A>C (p.Glu2194Ala)
c.6557A>C (p.Glu2186Ala)
c.6512A>C (p.Glu2171Ala)
3g.53811306A>GCA353259423CACNA1Dc.6446A>G (p.Glu2149Gly)
n.1775A>G
n.3385A>G
n.1821A>G
c.6386A>G (p.Glu2129Gly)
c.6314A>G (p.Glu2105Gly)
c.2507A>G
c.6341A>G (p.Glu2114Gly)
n.1813A>G
c.6413A>G (p.Glu2138Gly)
c.5465A>G (p.Glu1822Gly)
c.6641A>G (p.Glu2214Gly)
c.6530A>G (p.Glu2177Gly)
c.6452A>G (p.Glu2151Gly)
c.6104A>G (p.Glu2035Gly)
c.5729A>G (p.Glu1910Gly)
c.6536A>G (p.Glu2179Gly)
c.6638A>G (p.Glu2213Gly)
c.6614A>G (p.Glu2205Gly)
c.6581A>G (p.Glu2194Gly)
c.6557A>G (p.Glu2186Gly)
c.6512A>G (p.Glu2171Gly)
3g.53811306A>TCA353259426CACNA1Dc.6446A>T (p.Glu2149Val)
n.1775A>T
n.3385A>T
n.1821A>T
c.6386A>T (p.Glu2129Val)
c.6314A>T (p.Glu2105Val)
c.2507A>T
c.6341A>T (p.Glu2114Val)
n.1813A>T
c.6413A>T (p.Glu2138Val)
c.5465A>T (p.Glu1822Val)
c.6641A>T (p.Glu2214Val)
c.6530A>T (p.Glu2177Val)
c.6452A>T (p.Glu2151Val)
c.6104A>T (p.Glu2035Val)
c.5729A>T (p.Glu1910Val)
c.6536A>T (p.Glu2179Val)
c.6638A>T (p.Glu2213Val)
c.6614A>T (p.Glu2205Val)
c.6581A>T (p.Glu2194Val)
c.6557A>T (p.Glu2186Val)
c.6512A>T (p.Glu2171Val)
3g.53811307G>ACA433896093CACNA1Dc.6447G>A (p.Glu2149=)
n.1776G>A
n.3386G>A
n.1822G>A
c.6387G>A (p.Glu2129=)
c.6315G>A (p.Glu2105=)
c.2508G>A
c.6342G>A (p.Glu2114=)
n.1814G>A
c.6414G>A (p.Glu2138=)
c.5466G>A (p.Glu1822=)
c.6642G>A (p.Glu2214=)
c.6531G>A (p.Glu2177=)
c.6453G>A (p.Glu2151=)
c.6105G>A (p.Glu2035=)
c.5730G>A (p.Glu1910=)
c.6537G>A (p.Glu2179=)
c.6639G>A (p.Glu2213=)
c.6615G>A (p.Glu2205=)
c.6582G>A (p.Glu2194=)
c.6558G>A (p.Glu2186=)
c.6513G>A (p.Glu2171=)
3g.53811307G>CCA353259431CACNA1Dc.6447G>C (p.Glu2149Asp)
n.1776G>C
n.3386G>C
n.1822G>C
c.6387G>C (p.Glu2129Asp)
c.6315G>C (p.Glu2105Asp)
c.2508G>C
c.6342G>C (p.Glu2114Asp)
n.1814G>C
c.6414G>C (p.Glu2138Asp)
c.5466G>C (p.Glu1822Asp)
c.6642G>C (p.Glu2214Asp)
c.6531G>C (p.Glu2177Asp)
c.6453G>C (p.Glu2151Asp)
c.6105G>C (p.Glu2035Asp)
c.5730G>C (p.Glu1910Asp)
c.6537G>C (p.Glu2179Asp)
c.6639G>C (p.Glu2213Asp)
c.6615G>C (p.Glu2205Asp)
c.6582G>C (p.Glu2194Asp)
c.6558G>C (p.Glu2186Asp)
c.6513G>C (p.Glu2171Asp)
3g.53811307G>TCA353259433CACNA1Dc.6447G>T (p.Glu2149Asp)
n.1776G>T
n.3386G>T
n.1822G>T
c.6387G>T (p.Glu2129Asp)
c.6315G>T (p.Glu2105Asp)
c.2508G>T
c.6342G>T (p.Glu2114Asp)
n.1814G>T
c.6414G>T (p.Glu2138Asp)
c.5466G>T (p.Glu1822Asp)
c.6642G>T (p.Glu2214Asp)
c.6531G>T (p.Glu2177Asp)
c.6453G>T (p.Glu2151Asp)
c.6105G>T (p.Glu2035Asp)
c.5730G>T (p.Glu1910Asp)
c.6537G>T (p.Glu2179Asp)
c.6639G>T (p.Glu2213Asp)
c.6615G>T (p.Glu2205Asp)
c.6582G>T (p.Glu2194Asp)
c.6558G>T (p.Glu2186Asp)
c.6513G>T (p.Glu2171Asp)
 gnomAD v4
3g.53811308C>ACA2455441CACNA1Dc.6448C>A (p.Leu2150Ile)
n.1777C>A
n.3387C>A
n.1823C>A
c.6388C>A (p.Leu2130Ile)
c.6316C>A (p.Leu2106Ile)
c.2509C>A
c.6343C>A (p.Leu2115Ile)
n.1815C>A
c.6415C>A (p.Leu2139Ile)
c.5467C>A (p.Leu1823Ile)
c.6643C>A (p.Leu2215Ile)
c.6532C>A (p.Leu2178Ile)
c.6454C>A (p.Leu2152Ile)
c.6106C>A (p.Leu2036Ile)
c.5731C>A (p.Leu1911Ile)
c.6538C>A (p.Leu2180Ile)
c.6640C>A (p.Leu2214Ile)
c.6616C>A (p.Leu2206Ile)
c.6583C>A (p.Leu2195Ile)
c.6559C>A (p.Leu2187Ile)
c.6514C>A (p.Leu2172Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811308C=CA1365489034CACNA1Dc.6448C= (p.Leu2150=)
n.1777C=
n.3387C=
n.1823C=
c.6388C= (p.Leu2130=)
c.6316C= (p.Leu2106=)
c.2509C=
c.6343C= (p.Leu2115=)
n.1815C=
c.6415C= (p.Leu2139=)
c.5467C= (p.Leu1823=)
c.6643C= (p.Leu2215=)
c.6532C= (p.Leu2178=)
c.6454C= (p.Leu2152=)
c.6106C= (p.Leu2036=)
c.5731C= (p.Leu1911=)
c.6538C= (p.Leu2180=)
c.6640C= (p.Leu2214=)
c.6616C= (p.Leu2206=)
c.6583C= (p.Leu2195=)
c.6559C= (p.Leu2187=)
c.6514C= (p.Leu2172=)
3g.53811308C>GCA353259437CACNA1Dc.6448C>G (p.Leu2150Val)
n.1777C>G
n.3387C>G
n.1823C>G
c.6388C>G (p.Leu2130Val)
c.6316C>G (p.Leu2106Val)
c.2509C>G
c.6343C>G (p.Leu2115Val)
n.1815C>G
c.6415C>G (p.Leu2139Val)
c.5467C>G (p.Leu1823Val)
c.6643C>G (p.Leu2215Val)
c.6532C>G (p.Leu2178Val)
c.6454C>G (p.Leu2152Val)
c.6106C>G (p.Leu2036Val)
c.5731C>G (p.Leu1911Val)
c.6538C>G (p.Leu2180Val)
c.6640C>G (p.Leu2214Val)
c.6616C>G (p.Leu2206Val)
c.6583C>G (p.Leu2195Val)
c.6559C>G (p.Leu2187Val)
c.6514C>G (p.Leu2172Val)
3g.53811308C>TCA433896096CACNA1Dc.6448C>T (p.Leu2150=)
n.1777C>T
n.3387C>T
n.1823C>T
c.6388C>T (p.Leu2130=)
c.6316C>T (p.Leu2106=)
c.2509C>T
c.6343C>T (p.Leu2115=)
n.1815C>T
c.6415C>T (p.Leu2139=)
c.5467C>T (p.Leu1823=)
c.6643C>T (p.Leu2215=)
c.6532C>T (p.Leu2178=)
c.6454C>T (p.Leu2152=)
c.6106C>T (p.Leu2036=)
c.5731C>T (p.Leu1911=)
c.6538C>T (p.Leu2180=)
c.6640C>T (p.Leu2214=)
c.6616C>T (p.Leu2206=)
c.6583C>T (p.Leu2195=)
c.6559C>T (p.Leu2187=)
c.6514C>T (p.Leu2172=)
 gnomAD v4
3g.53811309T>ACA353259440CACNA1Dc.6449T>A (p.Leu2150Gln)
n.1778T>A
n.3388T>A
n.1824T>A
c.6389T>A (p.Leu2130Gln)
c.6317T>A (p.Leu2106Gln)
c.2510T>A
c.6344T>A (p.Leu2115Gln)
n.1816T>A
c.6416T>A (p.Leu2139Gln)
c.5468T>A (p.Leu1823Gln)
c.6644T>A (p.Leu2215Gln)
c.6533T>A (p.Leu2178Gln)
c.6455T>A (p.Leu2152Gln)
c.6107T>A (p.Leu2036Gln)
c.5732T>A (p.Leu1911Gln)
c.6539T>A (p.Leu2180Gln)
c.6641T>A (p.Leu2214Gln)
c.6617T>A (p.Leu2206Gln)
c.6584T>A (p.Leu2195Gln)
c.6560T>A (p.Leu2187Gln)
c.6515T>A (p.Leu2172Gln)
3g.53811309T>CCA353259442CACNA1Dc.6449T>C (p.Leu2150Pro)
n.1778T>C
n.3388T>C
n.1824T>C
c.6389T>C (p.Leu2130Pro)
c.6317T>C (p.Leu2106Pro)
c.2510T>C
c.6344T>C (p.Leu2115Pro)
n.1816T>C
c.6416T>C (p.Leu2139Pro)
c.5468T>C (p.Leu1823Pro)
c.6644T>C (p.Leu2215Pro)
c.6533T>C (p.Leu2178Pro)
c.6455T>C (p.Leu2152Pro)
c.6107T>C (p.Leu2036Pro)
c.5732T>C (p.Leu1911Pro)
c.6539T>C (p.Leu2180Pro)
c.6641T>C (p.Leu2214Pro)
c.6617T>C (p.Leu2206Pro)
c.6584T>C (p.Leu2195Pro)
c.6560T>C (p.Leu2187Pro)
c.6515T>C (p.Leu2172Pro)
3g.53811309T>GCA353259445CACNA1Dc.6449T>G (p.Leu2150Arg)
n.1778T>G
n.3388T>G
n.1824T>G
c.6389T>G (p.Leu2130Arg)
c.6317T>G (p.Leu2106Arg)
c.2510T>G
c.6344T>G (p.Leu2115Arg)
n.1816T>G
c.6416T>G (p.Leu2139Arg)
c.5468T>G (p.Leu1823Arg)
c.6644T>G (p.Leu2215Arg)
c.6533T>G (p.Leu2178Arg)
c.6455T>G (p.Leu2152Arg)
c.6107T>G (p.Leu2036Arg)
c.5732T>G (p.Leu1911Arg)
c.6539T>G (p.Leu2180Arg)
c.6641T>G (p.Leu2214Arg)
c.6617T>G (p.Leu2206Arg)
c.6584T>G (p.Leu2195Arg)
c.6560T>G (p.Leu2187Arg)
c.6515T>G (p.Leu2172Arg)
3g.53811310A>CCA433896098CACNA1Dc.6450A>C (p.Leu2150=)
n.1779A>C
n.3389A>C
n.1825A>C
c.6390A>C (p.Leu2130=)
c.6318A>C (p.Leu2106=)
c.2511A>C
c.6345A>C (p.Leu2115=)
n.1817A>C
c.6417A>C (p.Leu2139=)
c.5469A>C (p.Leu1823=)
c.6645A>C (p.Leu2215=)
c.6534A>C (p.Leu2178=)
c.6456A>C (p.Leu2152=)
c.6108A>C (p.Leu2036=)
c.5733A>C (p.Leu1911=)
c.6540A>C (p.Leu2180=)
c.6642A>C (p.Leu2214=)
c.6618A>C (p.Leu2206=)
c.6585A>C (p.Leu2195=)
c.6561A>C (p.Leu2187=)
c.6516A>C (p.Leu2172=)
3g.53811310A>GCA433896099CACNA1Dc.6450A>G (p.Leu2150=)
n.1779A>G
n.3389A>G
n.1825A>G
c.6390A>G (p.Leu2130=)
c.6318A>G (p.Leu2106=)
c.2511A>G
c.6345A>G (p.Leu2115=)
n.1817A>G
c.6417A>G (p.Leu2139=)
c.5469A>G (p.Leu1823=)
c.6645A>G (p.Leu2215=)
c.6534A>G (p.Leu2178=)
c.6456A>G (p.Leu2152=)
c.6108A>G (p.Leu2036=)
c.5733A>G (p.Leu1911=)
c.6540A>G (p.Leu2180=)
c.6642A>G (p.Leu2214=)
c.6618A>G (p.Leu2206=)
c.6585A>G (p.Leu2195=)
c.6561A>G (p.Leu2187=)
c.6516A>G (p.Leu2172=)
3g.53811310A>TCA433896100CACNA1Dc.6450A>T (p.Leu2150=)
n.1779A>T
n.3389A>T
n.1825A>T
c.6390A>T (p.Leu2130=)
c.6318A>T (p.Leu2106=)
c.2511A>T
c.6345A>T (p.Leu2115=)
n.1817A>T
c.6417A>T (p.Leu2139=)
c.5469A>T (p.Leu1823=)
c.6645A>T (p.Leu2215=)
c.6534A>T (p.Leu2178=)
c.6456A>T (p.Leu2152=)
c.6108A>T (p.Leu2036=)
c.5733A>T (p.Leu1911=)
c.6540A>T (p.Leu2180=)
c.6642A>T (p.Leu2214=)
c.6618A>T (p.Leu2206=)
c.6585A>T (p.Leu2195=)
c.6561A>T (p.Leu2187=)
c.6516A>T (p.Leu2172=)
3g.53811311C>ACA353259448CACNA1Dc.6451C>A (p.Gln2151Lys)
n.1780C>A
n.3390C>A
n.1826C>A
c.6391C>A (p.Gln2131Lys)
c.6319C>A (p.Gln2107Lys)
c.2512C>A
c.6346C>A (p.Gln2116Lys)
n.1818C>A
c.6418C>A (p.Gln2140Lys)
c.5470C>A (p.Gln1824Lys)
c.6646C>A (p.Gln2216Lys)
c.6535C>A (p.Gln2179Lys)
c.6457C>A (p.Gln2153Lys)
c.6109C>A (p.Gln2037Lys)
c.5734C>A (p.Gln1912Lys)
c.6541C>A (p.Gln2181Lys)
c.6643C>A (p.Gln2215Lys)
c.6619C>A (p.Gln2207Lys)
c.6586C>A (p.Gln2196Lys)
c.6562C>A (p.Gln2188Lys)
c.6517C>A (p.Gln2173Lys)
3g.53811311C>GCA353259450CACNA1Dc.6451C>G (p.Gln2151Glu)
n.1780C>G
n.3390C>G
n.1826C>G
c.6391C>G (p.Gln2131Glu)
c.6319C>G (p.Gln2107Glu)
c.2512C>G
c.6346C>G (p.Gln2116Glu)
n.1818C>G
c.6418C>G (p.Gln2140Glu)
c.5470C>G (p.Gln1824Glu)
c.6646C>G (p.Gln2216Glu)
c.6535C>G (p.Gln2179Glu)
c.6457C>G (p.Gln2153Glu)
c.6109C>G (p.Gln2037Glu)
c.5734C>G (p.Gln1912Glu)
c.6541C>G (p.Gln2181Glu)
c.6643C>G (p.Gln2215Glu)
c.6619C>G (p.Gln2207Glu)
c.6586C>G (p.Gln2196Glu)
c.6562C>G (p.Gln2188Glu)
c.6517C>G (p.Gln2173Glu)
3g.53811311C>TCA353259453CACNA1Dc.6451C>T (p.Gln2151Ter)
n.1780C>T
n.3390C>T
n.1826C>T
c.6391C>T (p.Gln2131Ter)
c.6319C>T (p.Gln2107Ter)
c.2512C>T
c.6346C>T (p.Gln2116Ter)
n.1818C>T
c.6418C>T (p.Gln2140Ter)
c.5470C>T (p.Gln1824Ter)
c.6646C>T (p.Gln2216Ter)
c.6535C>T (p.Gln2179Ter)
c.6457C>T (p.Gln2153Ter)
c.6109C>T (p.Gln2037Ter)
c.5734C>T (p.Gln1912Ter)
c.6541C>T (p.Gln2181Ter)
c.6643C>T (p.Gln2215Ter)
c.6619C>T (p.Gln2207Ter)
c.6586C>T (p.Gln2196Ter)
c.6562C>T (p.Gln2188Ter)
c.6517C>T (p.Gln2173Ter)
3g.53811312A>CCA353259457CACNA1Dc.6452A>C (p.Gln2151Pro)
n.1781A>C
n.3391A>C
n.1827A>C
c.6392A>C (p.Gln2131Pro)
c.6320A>C (p.Gln2107Pro)
c.2513A>C
c.6347A>C (p.Gln2116Pro)
n.1819A>C
c.6419A>C (p.Gln2140Pro)
c.5471A>C (p.Gln1824Pro)
c.6647A>C (p.Gln2216Pro)
c.6536A>C (p.Gln2179Pro)
c.6458A>C (p.Gln2153Pro)
c.6110A>C (p.Gln2037Pro)
c.5735A>C (p.Gln1912Pro)
c.6542A>C (p.Gln2181Pro)
c.6644A>C (p.Gln2215Pro)
c.6620A>C (p.Gln2207Pro)
c.6587A>C (p.Gln2196Pro)
c.6563A>C (p.Gln2188Pro)
c.6518A>C (p.Gln2173Pro)
3g.53811312A>GCA353259459CACNA1Dc.6452A>G (p.Gln2151Arg)
n.1781A>G
n.3391A>G
n.1827A>G
c.6392A>G (p.Gln2131Arg)
c.6320A>G (p.Gln2107Arg)
c.2513A>G
c.6347A>G (p.Gln2116Arg)
n.1819A>G
c.6419A>G (p.Gln2140Arg)
c.5471A>G (p.Gln1824Arg)
c.6647A>G (p.Gln2216Arg)
c.6536A>G (p.Gln2179Arg)
c.6458A>G (p.Gln2153Arg)
c.6110A>G (p.Gln2037Arg)
c.5735A>G (p.Gln1912Arg)
c.6542A>G (p.Gln2181Arg)
c.6644A>G (p.Gln2215Arg)
c.6620A>G (p.Gln2207Arg)
c.6587A>G (p.Gln2196Arg)
c.6563A>G (p.Gln2188Arg)
c.6518A>G (p.Gln2173Arg)
3g.53811312A>TCA353259455CACNA1Dc.6452A>T (p.Gln2151Leu)
n.1781A>T
n.3391A>T
n.1827A>T
c.6392A>T (p.Gln2131Leu)
c.6320A>T (p.Gln2107Leu)
c.2513A>T
c.6347A>T (p.Gln2116Leu)
n.1819A>T
c.6419A>T (p.Gln2140Leu)
c.5471A>T (p.Gln1824Leu)
c.6647A>T (p.Gln2216Leu)
c.6536A>T (p.Gln2179Leu)
c.6458A>T (p.Gln2153Leu)
c.6110A>T (p.Gln2037Leu)
c.5735A>T (p.Gln1912Leu)
c.6542A>T (p.Gln2181Leu)
c.6644A>T (p.Gln2215Leu)
c.6620A>T (p.Gln2207Leu)
c.6587A>T (p.Gln2196Leu)
c.6563A>T (p.Gln2188Leu)
c.6518A>T (p.Gln2173Leu)
3g.53811313G>ACA2455442CACNA1Dc.6453G>A (p.Gln2151=)
n.1782G>A
n.3392G>A
n.1828G>A
c.6393G>A (p.Gln2131=)
c.6321G>A (p.Gln2107=)
c.2514G>A
c.6348G>A (p.Gln2116=)
n.1820G>A
c.6420G>A (p.Gln2140=)
c.5472G>A (p.Gln1824=)
c.6648G>A (p.Gln2216=)
c.6537G>A (p.Gln2179=)
c.6459G>A (p.Gln2153=)
c.6111G>A (p.Gln2037=)
c.5736G>A (p.Gln1912=)
c.6543G>A (p.Gln2181=)
c.6645G>A (p.Gln2215=)
c.6621G>A (p.Gln2207=)
c.6588G>A (p.Gln2196=)
c.6564G>A (p.Gln2188=)
c.6519G>A (p.Gln2173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.53811313G>CCA353259462CACNA1Dc.6453G>C (p.Gln2151His)
n.1782G>C
n.3392G>C
n.1828G>C
c.6393G>C (p.Gln2131His)
c.6321G>C (p.Gln2107His)
c.2514G>C
c.6348G>C (p.Gln2116His)
n.1820G>C
c.6420G>C (p.Gln2140His)
c.5472G>C (p.Gln1824His)
c.6648G>C (p.Gln2216His)
c.6537G>C (p.Gln2179His)
c.6459G>C (p.Gln2153His)
c.6111G>C (p.Gln2037His)
c.5736G>C (p.Gln1912His)
c.6543G>C (p.Gln2181His)
c.6645G>C (p.Gln2215His)
c.6621G>C (p.Gln2207His)
c.6588G>C (p.Gln2196His)
c.6564G>C (p.Gln2188His)
c.6519G>C (p.Gln2173His)
3g.53811313G=CA1365489035CACNA1Dc.6453G= (p.Gln2151=)
n.1782G=
n.3392G=
n.1828G=
c.6393G= (p.Gln2131=)
c.6321G= (p.Gln2107=)
c.2514G=
c.6348G= (p.Gln2116=)
n.1820G=
c.6420G= (p.Gln2140=)
c.5472G= (p.Gln1824=)
c.6648G= (p.Gln2216=)
c.6537G= (p.Gln2179=)
c.6459G= (p.Gln2153=)
c.6111G= (p.Gln2037=)
c.5736G= (p.Gln1912=)
c.6543G= (p.Gln2181=)
c.6645G= (p.Gln2215=)
c.6621G= (p.Gln2207=)
c.6588G= (p.Gln2196=)
c.6564G= (p.Gln2188=)
c.6519G= (p.Gln2173=)
3g.53811313G>TCA353259464CACNA1Dc.6453G>T (p.Gln2151His)
n.1782G>T
n.3392G>T
n.1828G>T
c.6393G>T (p.Gln2131His)
c.6321G>T (p.Gln2107His)
c.2514G>T
c.6348G>T (p.Gln2116His)
n.1820G>T
c.6420G>T (p.Gln2140His)
c.5472G>T (p.Gln1824His)
c.6648G>T (p.Gln2216His)
c.6537G>T (p.Gln2179His)
c.6459G>T (p.Gln2153His)
c.6111G>T (p.Gln2037His)
c.5736G>T (p.Gln1912His)
c.6543G>T (p.Gln2181His)
c.6645G>T (p.Gln2215His)
c.6621G>T (p.Gln2207His)
c.6588G>T (p.Gln2196His)
c.6564G>T (p.Gln2188His)
c.6519G>T (p.Gln2173His)
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)

Number of alleles fetched